00	0.0699	L	0.40543	1.245	0.38266	D	0.942011	B;B	0.18166	0.0;0.026	B;B	0.26864	0.006;0.074	T	0.05099	-1.0906	10	0.32370	T	0.25	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	476;494	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	494;476	ENSP00000339245:P494H;ENSP00000347888:P476H	ENSP00000339245:P494H	P	-	2	0	YTHDC1	68871182	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.704000	0.68347	2.880000	0.98712	0.650000	0.86243	CCC	YTHDC1	-	NULL		0.418	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	G	NM_133370		69188587	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	0.994	T	T	69188587	G	T	69188587	3	4	161	1	0	0	0	0	1	0	0	0	17527	1232	43	4	730	4	YTHDC1	4	69188587	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	21307987	69188587	121965689	29	30548										
SLC7A11	23657	genome.wustl.edu	37	chr4	139153538	139153539	+	Splice_Site	INS	-	-	A													0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	acagcagtagctgcagggctINSaaaaaaaaatgtatatattt					rs113451557|rs544180499|rs142339109	byFrequency	TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:139153538_139153539insA	ENST00000280612.5	-	3	684		c.e3-2			NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GCTGCAGGGCTAAAAAAAAATG	0.351																																																	0																																										SO:0001630	splice_region_variant	23657			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.405-2->T	4.37:g.139153547_139153547dupA			A8K2U4	Splice_Site	INS	-	e3-2	ENST00000280612.5	37	c.405-3_405-2	CCDS3742.1	4																																																																																			SLC7A11	-	-		0.351	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2	-		Intron	139153539	-1	no_errors	ENST00000280612	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.006	A	A	139153539	-	A	139153538	8	5	161	1	0	1	1	0	0	0	1	0	14724	1536	53	0	1142	0	SLC7A11	4	139153538	Splice_Site	INS	-	TCGA-JW-A69B-01A-11D-A32I-09	69964951	139153538	52000738	30	30549										
RAB33B	83452	genome.wustl.edu	37	chr4	140393933	140393933	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	atgctgttgtcttcgtgtatGatatgaccaacatggctagt	10	7	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:140393933G>A	ENST00000305626.5	+	2	732	c.343G>A	c.(343-345)Gat>Aat	p.D115N		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	115					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					CTTCGTGTATGATATGACCAA	0.403																																																	0													132	110	117					4																	140393933		2203	4300	6503	SO:0001583	missense	83452			AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"RAB, member RAS oncogene"	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.343G>A	4.37:g.140393933G>A	ENSP00000306496:p.Asp115Asn		B2R987|Q4W5B0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D115N	ENST00000305626.5	37	c.343	CCDS3747.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.509368	0.96386	.	.	ENSG00000172007	ENST00000305626	D	0.86769	-2.17	5.65	5.65	0.86999	Small GTP-binding protein domain (1);	0.042903	0.85682	D	0.000000	D	0.95404	0.8508	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95940	0.8946	10	0.87932	D	0	.	19.7209	0.96143	0.0:0.0:1.0:0.0	.	115	Q9H082	RB33B_HUMAN	N	115	ENSP00000306496:D115N	ENSP00000306496:D115N	D	+	1	0	RAB33B	140613383	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.869000	0.99810	2.669000	0.90835	0.484000	0.47621	GAT	RAB33B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.403	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33B	HGNC	protein_coding	OTTHUMT00000257235.2	G	NM_031296		140393933	1	no_errors	ENST00000305626	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140393933	G	A	140393933	3	1	161	1	0	0	0	0	1	0	0	0	12953	1290	45	1	349	1	RAB33B	4	140393933	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	1240395	140393933	50760343	31	30550										
GLRA3	8001	genome.wustl.edu	37	chr4	175598419	175598419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tttgtcgctccagatggaatCgcacttctatacacgtaaac	7	11	1	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:175598419C>T	ENST00000274093.3	-	7	1239	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	GLRA3_ENST00000340217.5_Missense_Mutation_p.R246Q	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	246					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CAGATGGAATCGCACTTCTAT	0.383																																																	0													107	102	104					4																	175598419		2203	4300	6503	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.737G>A	4.37:g.175598419C>T	ENSP00000274093:p.Arg246Gln		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.R246Q	ENST00000274093.3	37	c.737	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198361	0.38806	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.78707	-1.2;-1.2	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	N	0.17474	0.49	0.49582	D	0.999801	B;B	0.23735	0.09;0.05	B;B	0.18561	0.013;0.022	T	0.60234	-0.7303	10	0.27785	T	0.31	.	19.5178	0.95171	0.0:1.0:0.0:0.0	.	246;246	O75311-2;O75311	.;GLRA3_HUMAN	Q	246	ENSP00000274093:R246Q;ENSP00000345284:R246Q	ENSP00000274093:R246Q	R	-	2	0	GLRA3	175834994	0.970000	0.33590	1.000000	0.80357	0.979000	0.70002	2.561000	0.45905	2.611000	0.88343	0.655000	0.94253	CGA	GLRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.383	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	C			175598419	-1	no_errors	ENST00000274093	ensembl	human	known	70_37	missense	SNP	0.998	T	T	175598419	C	T	175598419	3	4	161	1	0	0	0	0	1	0	0	0	6475	884	31	1	673	1	GLRA3	4	175598419	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	35204486	175598419	15555857	32	30551										
WDR17	116966	genome.wustl.edu	37	chr4	177058704	177058704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tattgctgggggaacttcccGaaatggtgcttttatttgga	12	6	0	0	rs200199041		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:177058704G>A	ENST00000280190.4	+	10	1529	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	WDR17_ENST00000393643.2_Missense_Mutation_p.R434Q|WDR17_ENST00000508596.1_Missense_Mutation_p.R434Q|WDR17_ENST00000507824.2_Missense_Mutation_p.R441Q			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	458										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGAACTTCCCGAAATGGTGCT	0.279																																																	0								G	GLN/ARG,GLN/ARG	0,4404		0,0,2202	76	80	79		1301,1373	2.2	1	4		79	1,8593	1.2+/-3.3	0,1,4296	yes	missense,missense	WDR17	NM_181265.3,NM_170710.4	43,43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	434/1284,458/1323	177058704	1,12997	2202	4297	6499	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1373G>A	4.37:g.177058704G>A	ENSP00000280190:p.Arg458Gln		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R458Q	ENST00000280190.4	37	c.1373	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448909	0.43531	0.0	1.16E-4	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.04758	3.57;3.56;3.57	5.08	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.216830	0.36268	N	0.002682	T	0.03434	0.0099	N	0.24115	0.695	0.39331	D	0.96541	B;B	0.20368	0.011;0.044	B;B	0.12156	0.007;0.007	T	0.49679	-0.8914	10	0.32370	T	0.25	-3.5877	8.1747	0.31275	0.3317:0.0:0.6683:0.0	.	434;458	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Q	434;434;458;441	ENSP00000422763:R434Q;ENSP00000377258:R434Q;ENSP00000280190:R458Q	ENSP00000280190:R458Q	R	+	2	0	WDR17	177295698	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	1.545000	0.36169	0.193000	0.20303	-0.140000	0.14226	CGA	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.279	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	G			177058704	1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	A	A	177058704	G	A	177058704	3	1	161	1	0	0	0	0	1	0	0	0	17308	1058	37	1	1407	1	WDR17	4	177058704	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	1460285	177058704	14095572	33	30552										
VEGFC	7424	genome.wustl.edu	37	chr4	177648970	177648970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cgtgctggtgttcatgcactGcagcccctcactattgcagc	10	14	2	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr4:177648970G>T	ENST00000280193.2	-	3	929	c.514C>A	c.(514-516)Cag>Aag	p.Q172K	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	172					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCATGCACTGCAGCCCCTCA	0.527																																																	0													112	115	114					4																	177648970		2021	4187	6208	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.514C>A	4.37:g.177648970G>T	ENSP00000280193:p.Gln172Lys		B2R9Q8	Missense_Mutation	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.Q172K	ENST00000280193.2	37	c.514	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526996	0.85706	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.72	5.72	0.89469	Platelet-derived growth factor (PDGF) (3);	0.056068	0.64402	D	0.000001	T	0.61527	0.2354	L	0.52266	1.64	0.80722	D	1	D	0.60160	0.987	P	0.48840	0.592	T	0.55302	-0.8162	9	0.25751	T	0.34	-8.1246	20.2406	0.98372	0.0:0.0:1.0:0.0	.	172	P49767	VEGFC_HUMAN	K	172	.	ENSP00000280193:Q172K	Q	-	1	0	VEGFC	177885964	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	9.420000	0.97426	2.857000	0.98124	0.650000	0.86243	CAG	VEGFC	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor		0.527	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	G	NM_005429		177648970	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	missense	SNP	1.000	T	T	177648970	G	T	177648970	3	4	161	1	0	0	0	0	1	0	0	0	17183	1328	46	4	768	4	VEGFC	4	177648970	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	590266	177648970	13505306	34	30553										
WDR70	55100	genome.wustl.edu	37	chr5	37392223	37392223	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tgctccaaatcatcttccagGtgcctgattttcagaaagac	7	11	3	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:37392223G>T	ENST00000265107.4	+	4	452		c.e4+1		WDR70_ENST00000504564.1_Splice_Site	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70								enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATCTTCCAGGTGCCTGATTT	0.318																																																	0													132	137	135					5																	37392223		2203	4300	6503	SO:0001630	splice_region_variant	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.296+1G>T	5.37:g.37392223G>T			Q9H053	Splice_Site	SNP	-	e4+1	ENST00000265107.4	37	c.296+1	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332404	0.60853	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0276	0.53380	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR70	37427980	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	4.244000	0.58728	2.286000	0.76751	0.563000	0.77884	.	WDR70	-	-		0.318	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	G	NM_018034	Intron	37392223	1	no_errors	ENST00000265107	ensembl	human	known	70_37	splice_site	SNP	0.997	T	T	37392223	G	T	37392223	5	4	161	1	0	0	0	0	0	0	1	0	17352	1275	44	4	311	4	WDR70	5	37392223	Splice_Site	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		37392223	143523037	35	30554										
MAP3K1	4214	genome.wustl.edu	37	chr5	56174810	56174810	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cagatttttttccttagaaaAcattgagagccatgctggta	8	7	0	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:56174810A>G	ENST00000399503.3	+	11	1969	c.1969A>G	c.(1969-1971)Aca>Gca	p.T657A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	657					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCCTTAGAAAACATTGAGAGC	0.378																																																	0													81	74	76					5																	56174810		1837	4087	5924	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1969A>G	5.37:g.56174810A>G	ENSP00000382423:p.Thr657Ala			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.T657A	ENST00000399503.3	37	c.1969	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705281	0.48412	.	.	ENSG00000095015	ENST00000399503	T	0.61980	0.06	5.46	4.28	0.50868	.	0.054916	0.64402	D	0.000001	T	0.58481	0.2125	L	0.56769	1.78	0.58432	D	0.999997	P	0.34546	0.456	B	0.35931	0.214	T	0.57957	-0.7721	10	0.45353	T	0.12	.	12.0332	0.53410	0.8705:0.0:0.0:0.1295	.	657	Q13233	M3K1_HUMAN	A	657	ENSP00000382423:T657A	ENSP00000382423:T657A	T	+	1	0	MAP3K1	56210567	1.000000	0.71417	0.990000	0.47175	0.172000	0.22775	7.672000	0.83956	0.992000	0.38840	-0.336000	0.08194	ACA	MAP3K1	-	superfamily_ARM-type_fold		0.378	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	A	XM_042066		56174810	1	no_errors	ENST00000399503	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	56174810	A	G	56174810	3	3	161	1	0	0	0	0	1	0	0	0	9266	43	2	5	2011	5	MAP3K1	5	56174810	Missense_Mutation	SNP	A	TCGA-JW-A69B-01A-11D-A32I-09	18782587	56174810	124740450	36	30555										
HEXB	3074	genome.wustl.edu	37	chr5	74011394	74011394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	acaagttggactcttttggaCctataaaccctactctgaat	6	10	2	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:74011394C>T	ENST00000261416.7	+	8	1078	c.961C>T	c.(961-963)Cct>Tct	p.P321S	HEXB_ENST00000511181.1_Missense_Mutation_p.P96S	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	321					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CTCTTTTGGACCTATAAACCC	0.348																																					Melanoma(66;841 1270 13391 18706 27225)												0													116	127	123					5																	74011394		2203	4300	6503	SO:0001583	missense	3074			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.961C>T	5.37:g.74011394C>T	ENSP00000261416:p.Pro321Ser			Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.P321S	ENST00000261416.7	37	c.961	CCDS4022.1	5	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587961	0.86851	.	.	ENSG00000049860	ENST00000511181;ENST00000261416	D;D	0.89810	-2.57;-2.57	5.78	4.91	0.64330	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.85373	2.75	0.80722	D	1	D	0.62365	0.991	D	0.73380	0.98	D	0.95631	0.8689	10	0.87932	D	0	-24.7201	16.9528	0.86250	0.0:0.8723:0.1277:0.0	.	321	P07686	HEXB_HUMAN	S	96;321	ENSP00000426285:P96S;ENSP00000261416:P321S	ENSP00000261416:P321S	P	+	1	0	HEXB	74047150	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.814000	0.86154	1.443000	0.47586	0.555000	0.69702	CCT	HEXB	-	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF		0.348	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXB	HGNC	protein_coding	OTTHUMT00000219859.6	C	NM_000521		74011394	1	no_errors	ENST00000261416	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74011394	C	T	74011394	3	4	161	1	0	0	0	0	1	0	0	0	7094	507	18	4	991	4	HEXB	5	74011394	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	17836584	74011394	106903866	37	30556										
THBS4	7060	genome.wustl.edu	37	chr5	79372793	79372793	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gtgatgatgatgatgacaatGatggtatcccagacctggtg	13	6	0	7			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:79372793G>T	ENST00000350881.2	+	16	2198	c.2008G>T	c.(2008-2010)Gat>Tat	p.D670Y	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.D579Y	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	670					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGATGACAATGATGGTATCCC	0.572																																																	0													191	187	189					5																	79372793		2203	4300	6503	SO:0001583	missense	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2008G>T	5.37:g.79372793G>T	ENSP00000339730:p.Asp670Tyr		B2R909|Q86TG2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D670Y	ENST00000350881.2	37	c.2008	CCDS4049.1	5	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933254	0.92458	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.99923	-8.01;-8.01	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99947	0.9977	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96264	0.9193	10	0.87932	D	0	-25.16	19.3435	0.94355	0.0:0.0:1.0:0.0	.	670	P35443	TSP4_HUMAN	Y	670;579	ENSP00000339730:D670Y;ENSP00000422298:D579Y	ENSP00000339730:D670Y	D	+	1	0	THBS4	79408549	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.561000	0.98142	2.866000	0.98385	0.650000	0.86243	GAT	THBS4	-	NULL		0.572	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	G			79372793	1	no_errors	ENST00000350881	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79372793	G	T	79372793	3	4	161	1	0	0	0	0	1	0	0	0	15886	1290	45	3	2070	3	THBS4	5	79372793	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	5361399	79372793	101542467	38	30557										
VCAN	1462	genome.wustl.edu	37	chr5	82833083	82833083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	agcatctcgttaccactgtgCccaaggacccagaagctgca	9	14	1	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:82833083C>T	ENST00000265077.3	+	8	4826	c.4261C>T	c.(4261-4263)Ccc>Tcc	p.P1421S	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P434S|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1421	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TACCACTGTGCCCAAGGACCC	0.463																																																	0													51	54	53					5																	82833083		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4261C>T	5.37:g.82833083C>T	ENSP00000265077:p.Pro1421Ser		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.P1421S	ENST00000265077.3	37	c.4261	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.257386	0.95368	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.97791	-4.54;-2.98;2.06	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000009	D	0.98651	0.9548	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98824	1.0748	10	0.49607	T	0.09	.	20.2284	0.98346	0.0:1.0:0.0:0.0	.	434;1421	P13611-2;P13611	.;CSPG2_HUMAN	S	1421;434;434	ENSP00000265077:P1421S;ENSP00000340062:P434S;ENSP00000426251:P434S	ENSP00000265077:P1421S	P	+	1	0	VCAN	82868839	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.705000	0.54823	2.785000	0.95823	0.650000	0.86243	CCC	VCAN	-	NULL		0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82833083	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82833083	C	T	82833083	3	4	161	1	0	0	0	0	1	0	0	0	17169	739	26	4	4287	4	VCAN	5	82833083	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	3460290	82833083	98082177	39	30558										
PJA2	9867	genome.wustl.edu	37	chr5	108714347	108714347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ggctgcatcttcaggtgaatGttctgtctgtctttcctggc	11	10	5	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:108714347G>T	ENST00000361189.2	-	4	1080	c.841C>A	c.(841-843)Cat>Aat	p.H281N	PJA2_ENST00000361557.3_Missense_Mutation_p.H281N|PJA2_ENST00000511624.1_5'Flank	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	281					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCAGGTGAATGTTCTGTCTGT	0.408																																																	0													133	148	143					5																	108714347		2202	4300	6502	SO:0001583	missense	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.841C>A	5.37:g.108714347G>T	ENSP00000354775:p.His281Asn		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H281N	ENST00000361189.2	37	c.841	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.817665	0.00595	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05025	3.51;3.51	5.61	1.88	0.25563	.	0.611971	0.17017	N	0.190244	T	0.01254	0.0041	N	0.00210	-1.845	0.19575	N	0.999967	B	0.02656	0.0	B	0.01281	0.0	T	0.46091	-0.9216	10	0.02654	T	1	-11.9213	9.2755	0.37696	0.0:0.0699:0.4965:0.4336	.	281	O43164	PJA2_HUMAN	N	281	ENSP00000354775:H281N;ENSP00000355284:H281N	ENSP00000354775:H281N	H	-	1	0	PJA2	108742246	0.209000	0.23505	0.936000	0.37596	0.436000	0.31835	0.414000	0.21164	0.470000	0.27294	-0.256000	0.11100	CAT	PJA2	-	NULL		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	G	NM_014819		108714347	-1	no_errors	ENST00000361189	ensembl	human	known	70_37	missense	SNP	0.645	T	T	108714347	G	T	108714347	3	4	161	1	0	0	0	0	1	0	0	0	11986	1377	48	4	1313	4	PJA2	5	108714347	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	25881264	108714347	72200913	40	30559										
DMXL1	1657	genome.wustl.edu	37	chr5	118483070	118483070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ttgcagagcaaatctccagaGtaccagcaggttgactctgt	10	10	2	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:118483070G>T	ENST00000311085.8	+	17	2896	c.2816G>T	c.(2815-2817)aGt>aTt	p.S939I	DMXL1_ENST00000539542.1_Missense_Mutation_p.S939I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	939										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATCTCCAGAGTACCAGCAGG	0.408																																																	0													61	64	63					5																	118483070		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2816G>T	5.37:g.118483070G>T	ENSP00000309690:p.Ser939Ile			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S939I	ENST00000311085.8	37	c.2816	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630863	0.87660	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.37752	1.18;1.18	5.82	5.82	0.92795	.	0.035107	0.85682	D	0.000000	T	0.58409	0.2120	M	0.72894	2.215	0.54753	D	0.999988	D;P	0.56968	0.978;0.894	P;P	0.58520	0.84;0.473	T	0.59123	-0.7513	10	0.66056	D	0.02	-17.1302	20.0984	0.97858	0.0:0.0:1.0:0.0	.	939;939	F5H269;Q9Y485	.;DMXL1_HUMAN	I	939	ENSP00000309690:S939I;ENSP00000439479:S939I	ENSP00000309690:S939I	S	+	2	0	DMXL1	118510969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.915000	0.63355	2.743000	0.94032	0.591000	0.81541	AGT	DMXL1	-	superfamily_WD40_repeat_dom		0.408	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	G	NM_005509		118483070	1	no_errors	ENST00000539542	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118483070	G	T	118483070	3	4	161	1	0	0	0	0	1	0	0	0	4604	1029	36	4	2882	4	DMXL1	5	118483070	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	9768723	118483070	62432190	41	30560										
ADAMTS2	9509	genome.wustl.edu	37	chr5	178559250	178559250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cccagatggtggctggtggcGtctacctcctgaatgagcag	14	11	1	3	rs137875904	byFrequency	TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr5:178559250G>A	ENST00000251582.7	-	15	2372	c.2271C>T	c.(2269-2271)gaC>gaT	p.D757D		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	757	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGCTGGTGGCGTCTACCTCCT	0.542																																																	0								G		5,4401	9.9+/-24.2	0,5,2198	114	105	108		2271	2.1	0	5	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	ADAMTS2	NM_014244.4		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		757/1212	178559250	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2271C>T	5.37:g.178559250G>A				Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.D757	ENST00000251582.7	37	c.2271	CCDS4444.1	5																																																																																			ADAMTS2	-	pfam_ADAM_spacer1		0.542	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	G	NM_014244		178559250	-1	no_errors	ENST00000251582	ensembl	human	known	70_37	silent	SNP	0.377	A	A	178559250	G	A	178559250	2	1	161	1	0	0	0	0	0	0	0	1	265	1136	40	2		2	ADAMTS2	5	178559250	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	60076180	178559250	2356010	42	30561										
KLC4	89953	genome.wustl.edu	37	chr6	43040984	43040984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ggcagtgggaccctgcagagGagtggctctcttggcaagat	16	9	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:43040984G>T	ENST00000394056.2	+	15	2148	c.1653G>T	c.(1651-1653)agG>agT	p.R551S	KLC4_ENST00000453940.2_Missense_Mutation_p.R474S|KLC4_ENST00000479388.1_Missense_Mutation_p.R551S|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000347162.5_Missense_Mutation_p.R551S|KLC4_ENST00000394058.1_Missense_Mutation_p.R551S|KLC4_ENST00000259708.3_Missense_Mutation_p.R569S			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	551						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CCCTGCAGAGGAGTGGCTCTC	0.542																																																	0													53	49	51					6																	43040984		2203	4300	6503	SO:0001583	missense	89953			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1653G>T	6.37:g.43040984G>T	ENSP00000377620:p.Arg551Ser		B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.R569S	ENST00000394056.2	37	c.1707	CCDS4883.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171902	0.78452	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.91686	-2.74;-2.89;-2.76;-2.74;-2.74;-2.74	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	D	0.93481	0.7920	M	0.74647	2.275	0.53005	D	0.999961	D;D;D	0.76494	0.999;0.989;0.981	D;D;D	0.78314	0.991;0.985;0.966	D	0.90986	0.4831	10	0.13470	T	0.59	-14.9044	13.1567	0.59522	0.0:0.1601:0.8399:0.0	.	474;569;551	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	S	551;474;569;551;551;551	ENSP00000340221:R551S;ENSP00000395806:R474S;ENSP00000259708:R569S;ENSP00000418031:R551S;ENSP00000377620:R551S;ENSP00000377622:R551S	ENSP00000259708:R569S	R	+	3	2	KLC4	43148962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.928000	0.28831	2.733000	0.93635	0.561000	0.74099	AGG	KLC4	-	NULL		0.542	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLC4	HGNC	protein_coding	OTTHUMT00000040579.2	G	NM_138343		43040984	1	no_errors	ENST00000259708	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43040984	G	T	43040984	3	4	161	1	0	0	0	0	1	0	0	0	8356	1165	41	3	1830	3	KLC4	6	43040984	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		43040984	128074083	43	30562										
COL12A1	1303	genome.wustl.edu	37	chr6	75816178	75816178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tgtctctactggtccacactGgactgcagacaatgtcaaaa	8	11	2	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:75816178G>A	ENST00000322507.8	-	53	8444	c.8135C>T	c.(8134-8136)cCa>cTa	p.P2712L	COL12A1_ENST00000483888.2_Missense_Mutation_p.P2712L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1548L|COL12A1_ENST00000416123.2_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2712	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGTCCACACTGGACTGCAGAC	0.413																																																	0													100	93	95					6																	75816178		1923	4138	6061	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8135C>T	6.37:g.75816178G>A	ENSP00000325146:p.Pro2712Leu		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P2712L	ENST00000322507.8	37	c.8135	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794943	0.31777	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000345356;ENST00000483888	T;T;T;T	0.02345	4.33;4.33;4.33;4.33	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.136231	0.50627	D	0.000105	T	0.00967	0.0032	N	0.17345	0.48	0.52099	D	0.999949	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.57849	-0.7740	10	0.25106	T	0.35	.	12.8587	0.57901	0.0745:0.0:0.9255:0.0	.	1548;2712	Q99715-2;Q99715	.;COCA1_HUMAN	L	2712;350;1548;2712	ENSP00000325146:P2712L;ENSP00000399812:P350L;ENSP00000305147:P1548L;ENSP00000421216:P2712L	ENSP00000325146:P2712L	P	-	2	0	COL12A1	75872898	1.000000	0.71417	0.934000	0.37439	0.992000	0.81027	6.702000	0.74628	2.632000	0.89209	0.591000	0.81541	CCA	COL12A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75816178	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	0.972	A	A	75816178	G	A	75816178	3	1	161	1	0	0	0	0	1	0	0	0	3674	1348	47	4	1112	4	COL12A1	6	75816178	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	32775194	75816178	95298889	44	30563										
SFRS18	25957	genome.wustl.edu	37	chr6	99857071	99857071	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	atttgtggaggctcctgcttCacaggaagtgcaataggtga	13	7	1	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:99857071C>A	ENST00000369239.5	-	6	855	c.651G>T	c.(649-651)gtG>gtT	p.V217V	PNISR_ENST00000438806.1_Silent_p.V217V|PNISR_ENST00000466057.1_5'Flank	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	217	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GCTCCTGCTTCACAGGAAGTG	0.448																																																	0													82	78	80					6																	99857071		2203	4300	6503	SO:0001819	synonymous_variant	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.651G>T	6.37:g.99857071C>A			A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Silent	SNP	NULL	p.V217	ENST00000369239.5	37	c.651	CCDS5043.1	6																																																																																			PNISR	-	NULL		0.448	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	C	NM_032870		99857071	-1	no_errors	ENST00000369239	ensembl	human	known	70_37	silent	SNP	1.000	A	A	99857071	C	A	99857071	2	1	161	1	0	0	0	0	0	0	0	1	14204	813	29	3		3	SFRS18	6	99857071	Silent	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	24040893	99857071	71257996	45	30564										
NKAIN2	154215	genome.wustl.edu	37	chr6	124604274	124604274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gaactattcaatatagacctCgttacataacaggagtaagt	7	7	1	1	rs142309299		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:124604274C>T	ENST00000368417.1	+	2	238	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	NKAIN2_ENST00000368416.1_Missense_Mutation_p.R60C|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000546092.1_Missense_Mutation_p.R60C|NKAIN2_ENST00000545433.1_Missense_Mutation_p.R45C	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATATAGACCTCGTTACATAAC	0.333																																																	0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	131	126	128		178,178	4.8	1	6	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NKAIN2	NM_001040214.1,NM_153355.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	60/209,60/142	124604274	1,13005	2203	4300	6503	SO:0001583	missense	154215			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.178C>T	6.37:g.124604274C>T	ENSP00000357402:p.Arg60Cys		Q8IYR4|Q8TF67	Missense_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.R60C	ENST00000368417.1	37	c.178	CCDS34526.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014293	0.75161	0.0	1.16E-4	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000546092;ENST00000539866;ENST00000545433	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.7	4.82	0.62117	.	0.060749	0.64402	D	0.000009	T	0.43765	0.1262	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.992;0.993;0.99	T	0.57213	-0.7850	10	0.87932	D	0	-11.0366	15.9302	0.79654	0.1363:0.8637:0.0:0.0	.	60;59;60;60	F5GY48;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	C	60;60;60;59;45	ENSP00000357401:R60C;ENSP00000357402:R60C;ENSP00000440287:R60C;ENSP00000437798:R45C	ENSP00000357401:R60C	R	+	1	0	NKAIN2	124645973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.121000	0.50438	1.376000	0.46267	0.655000	0.94253	CGT	NKAIN2	-	pfam_Na/K-Atpase_Interacting		0.333	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	C	NM_001040214		124604274	1	no_errors	ENST00000368417	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124604274	C	T	124604274	3	4	161	1	0	0	0	0	1	0	0	0	10460	884	31	1	184	1	NKAIN2	6	124604274	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	24747203	124604274	46510793	46	30565										
STX11	8676	genome.wustl.edu	37	chr6	144508077	144508077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	aggtcatccactgcaagctgCgcgccatgaaggagctgagc	13	12	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr6:144508077C>T	ENST00000367568.4	+	2	496	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	105					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CTGCAAGCTGCGCGCCATGAA	0.677									Familial Hemophagocytic Lymphohistiocytosis																																								0													20	21	20					6																	144508077		2203	4299	6502	SO:0001583	missense	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.313C>T	6.37:g.144508077C>T	ENSP00000356540:p.Arg105Cys		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R105C	ENST00000367568.4	37	c.313	CCDS5205.1	6	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471628	0.43942	.	.	ENSG00000135604	ENST00000367568	T	0.18502	2.21	5.99	1.19	0.21007	t-SNARE (1);Syntaxin, N-terminal (2);	0.369447	0.30732	N	0.008983	T	0.04182	0.0116	L	0.29908	0.895	0.35769	D	0.820759	B	0.24426	0.103	B	0.21546	0.035	T	0.26155	-1.0111	10	0.56958	D	0.05	-2.5987	6.768	0.23579	0.108:0.7201:0.0973:0.0746	.	105	O75558	STX11_HUMAN	C	105	ENSP00000356540:R105C	ENSP00000356540:R105C	R	+	1	0	STX11	144549770	0.995000	0.38212	0.093000	0.20910	0.986000	0.74619	2.189000	0.42621	-0.072000	0.12864	0.655000	0.94253	CGC	STX11	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N		0.677	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1	C			144508077	1	no_errors	ENST00000367568	ensembl	human	known	70_37	missense	SNP	0.654	T	T	144508077	C	T	144508077	3	4	161	1	0	0	0	0	1	0	0	0	15367	768	27	2	315	2	STX11	6	144508077	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	19903803	144508077	26606990	47	30566										
RABL5	64792	genome.wustl.edu	37	chr7	100959676	100959676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ggtttgtggtgtgcaattagCatacactgtgtgtcctgtaa	12	6	0	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:100959676C>T	ENST00000315322.4	-	4	447	c.354G>A	c.(352-354)atG>atA	p.M118I	RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000498704.2_Missense_Mutation_p.M41I|RABL5_ENST00000437644.2_Missense_Mutation_p.M88I|RABL5_ENST00000517481.1_Missense_Mutation_p.M41I	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		118					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GTGCAATTAGCATACACTGTG	0.448																																																	0													201	169	180					7																	100959676		2203	4300	6503	SO:0001583	missense	64792																														ENST00000315322.4:c.354G>A	7.37:g.100959676C>T	ENSP00000320359:p.Met118Ile		Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su	p.M118I	ENST00000315322.4	37	c.354	CCDS5719.1	7	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454477	0.26161	.	.	ENSG00000128581	ENST00000517481;ENST00000315322;ENST00000498704;ENST00000437644	T;T	0.76186	-0.51;-1.0	6.08	-2.13	0.07144	.	0.129591	0.51477	D	0.000090	T	0.49712	0.1573	N	0.16656	0.425	0.22684	N	0.998859	B;B;B	0.15719	0.014;0.011;0.003	B;B;B	0.15870	0.014;0.004;0.01	T	0.33979	-0.9847	10	0.16420	T	0.52	-15.4211	8.4954	0.33125	0.1737:0.1741:0.5827:0.0695	.	118;88;118	B7Z2E8;Q9H7X7-2;Q9H7X7	.;.;RABL5_HUMAN	I	41;118;41;88	ENSP00000320359:M118I;ENSP00000390770:M88I	ENSP00000320359:M118I	M	-	3	0	RABL5	100746396	0.817000	0.29147	0.020000	0.16555	0.607000	0.37147	-0.049000	0.11924	-0.075000	0.12798	-0.175000	0.13238	ATG	RABL5	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su		0.448	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABL5	HGNC	protein_coding	OTTHUMT00000347565.1	C			100959676	-1	no_errors	ENST00000315322	ensembl	human	known	70_37	missense	SNP	0.132	T	T	100959676	C	T	100959676	3	4	161	1	0	0	0	0	1	0	0	0	13003	710	25	4	211	4	RABL5	7	100959676	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09		100959676	58178987	48	30567										
WNT16	51384	genome.wustl.edu	37	chr7	120979235	120979235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cacaaggcagagaatgcaacCgtacatcagagggtgcagat	12	9	1	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:120979235C>A	ENST00000222462.2	+	4	1224	c.934C>A	c.(934-936)Cgt>Agt	p.R312S	WNT16_ENST00000361301.2_Missense_Mutation_p.R302S	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	312					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGAATGCAACCGTACATCAGA	0.488																																																	0													131	113	119					7																	120979235		2203	4300	6503	SO:0001583	missense	51384			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.934C>A	7.37:g.120979235C>A	ENSP00000222462:p.Arg312Ser		Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.R312S	ENST00000222462.2	37	c.934	CCDS5781.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534437	0.85812	.	.	ENSG00000002745	ENST00000361301;ENST00000222462	T;T	0.75821	-0.97;-0.97	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.69479	0.933;0.964	T	0.83123	-0.0117	10	0.51188	T	0.08	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	312;302	Q9UBV4;E9PH60	WNT16_HUMAN;.	S	302;312	ENSP00000355065:R302S;ENSP00000222462:R312S	ENSP00000222462:R312S	R	+	1	0	WNT16	120766471	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.664000	0.61540	2.756000	0.94617	0.655000	0.94253	CGT	WNT16	-	pfam_Wnt,smart_Wnt		0.488	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	C	NM_057168		120979235	1	no_errors	ENST00000222462	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120979235	C	A	120979235	3	1	161	1	0	0	0	0	1	0	0	0	17416	652	23	2	1017	2	WNT16	7	120979235	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	20019559	120979235	38159428	49	30568										
FLNC	2318	genome.wustl.edu	37	chr7	128480702	128480702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	aagtatgtggtgaccatcacGtggggcggctacgccatccc	13	12	1	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:128480702G>A	ENST00000325888.8	+	10	1911	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	FLNC_ENST00000346177.6_Silent_p.T550T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	550					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.T550T(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACCATCACGTGGGGCGGCT	0.647																																																	1	Substitution - coding silent(1)	lung(1)											159	179	172					7																	128480702		2141	4237	6378	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1650G>A	7.37:g.128480702G>A			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.T550	ENST00000325888.8	37	c.1650	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128480702	1	no_errors	ENST00000325888	ensembl	human	known	70_37	silent	SNP	0.001	A	A	128480702	G	A	128480702	2	1	161	1	0	0	0	0	0	0	0	1	5953	1132	40	2		2	FLNC	7	128480702	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	7501467	128480702	30657961	50	30569										
TAS2R60	338398	genome.wustl.edu	37	chr7	143141000	143141000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cttcagctctgtagggctctCcagcttcaccaccattctat	6	15	5	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:143141000C>A	ENST00000332690.1	+	1	455	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	152					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GTAGGGCTCTCCAGCTTCACC	0.453																																																	0													154	150	151					7																	143141000		2203	4300	6503	SO:0001583	missense	338398			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.455C>A	7.37:g.143141000C>A	ENSP00000327724:p.Ser152Tyr		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S152Y	ENST00000332690.1	37	c.455	CCDS5885.1	7	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577476	0.65878	.	.	ENSG00000185899	ENST00000332690	T	0.45668	0.89	5.62	0.446	0.16602	.	0.368790	0.22578	U	0.058247	T	0.56187	0.1968	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45011	-0.9290	10	0.72032	D	0.01	.	1.9687	0.03401	0.141:0.4764:0.1373:0.2452	.	152	P59551	T2R60_HUMAN	Y	152	ENSP00000327724:S152Y	ENSP00000327724:S152Y	S	+	2	0	TAS2R60	142851122	0.002000	0.14202	0.003000	0.11579	0.581000	0.36288	0.482000	0.22276	0.320000	0.23234	0.591000	0.81541	TCC	TAS2R60	-	pfam_TAS2_rcpt		0.453	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R60	HGNC	protein_coding	OTTHUMT00000337541.1	C			143141000	1	no_errors	ENST00000332690	ensembl	human	known	70_37	missense	SNP	0.000	A	A	143141000	C	A	143141000	3	1	161	1	0	0	0	0	1	0	0	0	15615	855	30	3	457	3	TAS2R60	7	143141000	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	14660298	143141000	15997663	51	30570										
GIMAP1	170575	genome.wustl.edu	37	chr7	150417617	150417617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	acagagaaccgggccttgcgCgagctggtggccgagtgcgg	18	11	0	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr7:150417617C>T	ENST00000307194.5	+	3	665	c.525C>T	c.(523-525)cgC>cgT	p.R175R		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	175	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCCTTGCGCGAGCTGGTGG	0.652																																																	0													42	47	45					7																	150417617		2203	4300	6503	SO:0001819	synonymous_variant	170575			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.525C>T	7.37:g.150417617C>T			B2RCI3|Q8NAZ0	Silent	SNP	pfam_AIG1	p.R175	ENST00000307194.5	37	c.525	CCDS5906.1	7																																																																																			GIMAP1	-	pfam_AIG1		0.652	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP1	HGNC	protein_coding	OTTHUMT00000348951.2	C	NM_130759		150417617	1	no_errors	ENST00000307194	ensembl	human	known	70_37	silent	SNP	0.000	T	T	150417617	C	T	150417617	2	4	161	1	0	0	0	0	0	0	0	1	6398	755	27	2		2	GIMAP1	7	150417617	Silent	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	7276617	150417617	8721046	52	30571										
SDCBP	6386	genome.wustl.edu	37	chr8	59484844	59484844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	aagaaatacgtgcaaatgtgGccgtggtttctggtgcacca	12	8	1	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr8:59484844G>T	ENST00000260130.4	+	4	361	c.211G>T	c.(211-213)Gcc>Tcc	p.A71S	SDCBP_ENST00000424270.2_Missense_Mutation_p.A65S|SDCBP_ENST00000522243.1_3'UTR|SDCBP_ENST00000413219.2_Missense_Mutation_p.A71S|SDCBP_ENST00000447267.2_Missense_Mutation_p.A71S|SDCBP_ENST00000520168.1_Missense_Mutation_p.A71S|SDCBP_ENST00000422546.2_Missense_Mutation_p.A71S|SDCBP_ENST00000523483.1_Missense_Mutation_p.A92S|SDCBP_ENST00000447182.2_Missense_Mutation_p.A71S	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	71					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGCAAATGTGGCCGTGGTTTC	0.348																																																	0													136	147	143					8																	59484844		2203	4300	6503	SO:0001583	missense	6386			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.211G>T	8.37:g.59484844G>T	ENSP00000260130:p.Ala71Ser		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A71S	ENST00000260130.4	37	c.211	CCDS6172.1	8	.	.	.	.	.	.	.	.	.	.	G	2.464	-0.323542	0.05350	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.12361	2.71;2.72;2.72;2.71;2.77;2.7;2.69;2.7	5.21	3.38	0.38709	.	0.380247	0.26776	N	0.022554	T	0.07999	0.0200	L	0.28344	0.845	0.23282	N	0.997986	B;B;B;B	0.17667	0.002;0.023;0.004;0.003	B;B;B;B	0.22880	0.014;0.042;0.019;0.008	T	0.33214	-0.9877	9	.	.	.	-0.9593	3.2567	0.06834	0.1453:0.261:0.4667:0.1271	.	71;92;65;71	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	S	71;71;71;71;65;92;71;71	ENSP00000260130:A71S;ENSP00000391687:A71S;ENSP00000409288:A71S;ENSP00000411771:A71S;ENSP00000395351:A65S;ENSP00000428184:A92S;ENSP00000430730:A71S;ENSP00000397820:A71S	.	A	+	1	0	SDCBP	59647398	0.961000	0.32948	0.747000	0.31113	0.012000	0.07955	1.255000	0.32909	0.667000	0.31107	-0.136000	0.14681	GCC	SDCBP	-	NULL		0.348	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	HGNC	protein_coding	OTTHUMT00000378193.1	G	NM_005625		59484844	1	no_errors	ENST00000260130	ensembl	human	known	70_37	missense	SNP	0.888	T	T	59484844	G	T	59484844	3	4	161	1	0	0	0	0	1	0	0	0	13985	1203	42	4	221	4	SDCBP	8	59484844	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		59484844	86879178	53	30572										
IL7	3574	genome.wustl.edu	37	chr8	79648739	79648739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gttggttgggcttcacccagGgcagctggttttcttccttt	12	10	2	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr8:79648739G>A	ENST00000263851.4	-	5	984	c.384C>T	c.(382-384)gcC>gcT	p.A128A	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Intron|IL7_ENST00000520269.1_Silent_p.A84A	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	128					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						CTTCACCCAGGGCAGCTGGTT	0.318																																																	0													51	50	50					8																	79648739		2203	4299	6502	SO:0001819	synonymous_variant	3574			J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"Interleukins and interleukin receptors"	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.384C>T	8.37:g.79648739G>A			A0N0L3|Q5FBY5|Q5FBY9	Silent	SNP	pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7,prints_Interleukin-7	p.A128	ENST00000263851.4	37	c.384	CCDS6224.1	8																																																																																			IL7	-	pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7		0.318	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7	HGNC	protein_coding	OTTHUMT00000379429.1	G			79648739	-1	no_errors	ENST00000263851	ensembl	human	known	70_37	silent	SNP	0.001	A	A	79648739	G	A	79648739	2	1	161	1	0	0	0	0	0	0	0	1	7724	1219	43	4		4	IL7	8	79648739	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	20163895	79648739	66715283	54	30573										
ATAD2	29028	genome.wustl.edu	37	chr8	124382158	124382159	+	In_Frame_Ins	INS	-	-	TCA													0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cttcttcatcttcatcatctINStcatcatcatcatcatcatc					rs373904648|rs374184884|rs145137934|rs112640031|rs371096883|rs373069275|rs113064839	byFrequency	TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr8:124382158_124382159insTCA	ENST00000287394.5	-	7	940_941	c.833_834insTGA	c.(832-834)gaa>gaTGAa	p.277_278insD	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_De_novo_Start_InFrame	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	277	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcttcatcatcatc	0.376																																																	0																																										SO:0001652	inframe_insertion	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.831_833dupTGA	8.37:g.124382165_124382167dupTCA	ENSP00000287394:p.Asp279_Asp280dup		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	In_Frame_Ins	INS	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.278in_frame_insD	ENST00000287394.5	37	c.834_833	CCDS6343.1	8																																																																																			ATAD2	-	NULL		0.376	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	-	NM_014109		124382159	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	in_frame_ins	INS	0.866:0.899	TCA	TCA	124382159	-	TCA	124382158	7	5	161	1	0	1	1	0	0	0	0	0	1072	1606	56	0	3426	0	ATAD2	8	124382158	In_Frame_Ins	INS	-	TCGA-JW-A69B-01A-11D-A32I-09	44733419	124382158	21981864	55	30574										
MPDZ	8777	genome.wustl.edu	37	chr9	13193262	13193262	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tgatgtcccactgtcgcttcCaggcttatccccaatccact	6	16	0	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr9:13193262C>A	ENST00000319217.7	-	14	1954	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L	MPDZ_ENST00000541718.1_Silent_p.L569L|MPDZ_ENST00000536827.1_Silent_p.L569L|MPDZ_ENST00000381015.4_Silent_p.L569L|MPDZ_ENST00000447879.1_Silent_p.L569L|MPDZ_ENST00000381022.2_Silent_p.L569L|MPDZ_ENST00000546205.1_Silent_p.L569L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	569	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTGTCGCTTCCAGGCTTATCC	0.423																																																	0													90	89	90					9																	13193262		1920	4120	6040	SO:0001819	synonymous_variant	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1707G>T	9.37:g.13193262C>A			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.L569	ENST00000319217.7	37	c.1707		9																																																																																			MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.423	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13193262	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13193262	C	A	13193262	2	1	161	1	0	0	0	0	0	0	0	1	9745	581	21	4		4	MPDZ	9	13193262	Silent	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09		13193262	128020169	56	30575										
PTCH1	5727	genome.wustl.edu	37	chr9	98209303	98209303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ggacgtggaaaggcacgtggGggtcctcaaacaggccgtgg	18	9	1	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr9:98209303G>T	ENST00000331920.6	-	23	4534	c.4235C>A	c.(4234-4236)cCc>cAc	p.P1412H	PTCH1_ENST00000418258.1_Missense_Mutation_p.P1261H|PTCH1_ENST00000430669.2_Missense_Mutation_p.P1346H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1261H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1346H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1261H|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1411H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1412					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCACGTGGGGGTCCTCAAA	0.672																																																	0													80	81	81					9																	98209303		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4235C>A	9.37:g.98209303G>T	ENSP00000332353:p.Pro1412His		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.P1412H	ENST00000331920.6	37	c.4235	CCDS6714.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.3|25.3|25.3	4.622104|4.622104|4.622104	0.87460|0.87460|0.87460	.|.|.	.|.|.	ENSG00000185920|ENSG00000185920|ENSG00000185920	ENST00000375284|ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274|ENST00000375284	.|D;D;D;D;D;D;D|.	.|0.91740|.	.|-2.89;-2.86;-2.85;-2.85;-2.86;-2.85;-2.9|.	5.06|5.06|5.06	5.06|5.06|5.06	0.68205|0.68205|0.68205	.|.|.	.|0.000000|0.000000	.|0.85682|0.85682	.|D|D	.|0.000000|0.000000	.|T|T	.|0.62600|0.62600	.|0.2441|0.2441	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0|.	.|D;D;D|.	.|0.91635|.	.|0.999;0.999;0.998|.	.|T|T	.|0.66143|0.66143	.|-0.5997|-0.5997	.|10|7	.|0.87932|0.87932	.|D|D	.|0|0	.|-26.4617|-26.4617	18.6101|18.6101|18.6101	0.91281|0.91281|0.91281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|1346;1411;1412|.	.|Q13635-3;Q13635-2;Q13635|.	.|.;.;PTC1_HUMAN|.	.|H|T	-1|1412;1346;1261;1261;1346;1261;1411|204	.|ENSP00000332353:P1412H;ENSP00000389744:P1346H;ENSP00000399981:P1261H;ENSP00000396135:P1261H;ENSP00000410287:P1346H;ENSP00000414823:P1261H;ENSP00000364423:P1411H|.	.|ENSP00000332353:P1412H|ENSP00000364433:P204T	.|P|P	-|-|-	.|2|1	.|0|0	PTCH1|PTCH1|PTCH1	97249124|97249124|97249124	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.615000|9.615000|9.615000	0.98356|0.98356|0.98356	2.623000|2.623000|2.623000	0.88846|0.88846|0.88846	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|CCC|CCC	PTCH1	-	NULL		0.672	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	G	NM_000264		98209303	-1	no_errors	ENST00000331920	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98209303	G	T	98209303	3	4	161	1	0	0	0	0	1	0	0	0	12757	1232	43	4	112	4	PTCH1	9	98209303	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	85016041	98209303	43004128	57	30576										
GAPVD1	26130	genome.wustl.edu	37	chr9	128064910	128064910	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	aacacatattgttttccacaTagtttaaggtggatcgtgtc	8	7	0	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr9:128064910T>G	ENST00000495955.1	+	5	1124	c.834T>G	c.(832-834)caT>caG	p.H278Q	GAPVD1_ENST00000265956.4_Missense_Mutation_p.H278Q|GAPVD1_ENST00000394084.1_Missense_Mutation_p.H278Q|GAPVD1_ENST00000394083.2_Missense_Mutation_p.H278Q|GAPVD1_ENST00000394104.2_Missense_Mutation_p.H278Q|GAPVD1_ENST00000312123.9_Missense_Mutation_p.H278Q|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000297933.6_Missense_Mutation_p.H278Q|GAPVD1_ENST00000394105.2_Missense_Mutation_p.H278Q|GAPVD1_ENST00000470056.1_Missense_Mutation_p.H278Q			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	278	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTTTCCACATAGTTTAAGGT	0.418																																																	0													166	145	152					9																	128064910		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.834T>G	9.37:g.128064910T>G	ENSP00000419063:p.His278Gln		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.H278Q	ENST00000495955.1	37	c.834		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	7.361|7.361|7.361	0.624820|0.624820|0.624820	0.14193|0.14193|0.14193	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329|ENST00000436712	D;D;D;D;D;D;D;D;D;D|.|.	0.81579|.|.	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51|.|.	6.17|6.17|6.17	1.36|1.36|1.36	0.22044|0.22044|0.22044	Rho GTPase activation protein (1);Ras GTPase-activating protein (3);|.|.	0.044097|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.19846|0.19846|.	0.0477|0.0477|.	N|N|N	0.01705|0.01705|0.01705	-0.755|-0.755|-0.755	0.47065|0.47065|0.47065	D|D|D	0.999301|0.999301|0.999301	B;B;B;B;B;B;B|.|.	0.17465|.|.	0.018;0.022;0.007;0.007;0.007;0.018;0.0|.|.	B;B;B;B;B;B;B|.|.	0.17433|.|.	0.011;0.018;0.005;0.007;0.007;0.011;0.0|.|.	T|T|.	0.05084|0.05084|.	-1.0907|-1.0907|.	10|5|.	0.21540|.|.	T|.|.	0.41|.|.	.|.|.	9.9052|9.9052|9.9052	0.41372|0.41372|0.41372	0.0:0.4532:0.0:0.5468|0.0:0.4532:0.0:0.5468|0.0:0.4532:0.0:0.5468	.|.|.	278;278;278;278;278;278;278|.|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65|.|.	.;GAPD1_HUMAN;.;.;.;.;.|.|.	Q|R|E	278|141|109	ENSP00000377646:H278Q;ENSP00000419767:H278Q;ENSP00000377665:H278Q;ENSP00000377664:H278Q;ENSP00000265956:H278Q;ENSP00000377645:H278Q;ENSP00000419063:H278Q;ENSP00000418747:H278Q;ENSP00000297933:H278Q;ENSP00000309582:H278Q|.|.	ENSP00000265956:H278Q|.|.	H|I|X	+|+|+	3|2|1	2|0|0	GAPVD1|GAPVD1|GAPVD1	127104731|127104731|127104731	0.832000|0.832000|0.832000	0.29368|0.29368|0.29368	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	-0.098000|-0.098000|-0.098000	0.11024|0.11024|0.11024	0.210000|0.210000|0.210000	0.20664|0.20664|0.20664	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	CAT|ATA|TAG	GAPVD1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,pfscan_RasGAP		0.418	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	T			128064910	1	no_errors	ENST00000394105	ensembl	human	known	70_37	missense	SNP	0.999	G	G	128064910	T	G	128064910	3	3	161	1	0	0	0	0	1	0	0	0	6258	1403	49	5	840	5	GAPVD1	9	128064910	Missense_Mutation	SNP	T	TCGA-JW-A69B-01A-11D-A32I-09	29855607	128064910	13148521	58	30577										
MAN1B1	11253	genome.wustl.edu	37	chr9	139994205	139994205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cttcctgcatgcatggaaagGataccgcaagtttgcatggg	12	9	0	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr9:139994205G>A	ENST00000371589.4	+	6	861	c.788G>A	c.(787-789)gGa>gAa	p.G263E	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	263					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GCATGGAAAGGATACCGCAAG	0.577																																																	0													267	197	221					9																	139994205		2203	4300	6503	SO:0001583	missense	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.788G>A	9.37:g.139994205G>A	ENSP00000360645:p.Gly263Glu		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.G263E	ENST00000371589.4	37	c.788	CCDS7029.1	9	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610284	0.46527	.	.	ENSG00000177239	ENST00000371589	D	0.83250	-1.7	4.69	3.76	0.43208	.	0.000000	0.64402	U	0.000001	D	0.92512	0.7622	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93527	0.6866	9	.	.	.	-7.9476	13.468	0.61266	0.0:0.1586:0.8414:0.0	.	164;227;263;164	B4DPS9;B4DR05;Q9UKM7;Q68D80	.;.;MA1B1_HUMAN;.	E	263	ENSP00000360645:G263E	.	G	+	2	0	MAN1B1	139114026	1.000000	0.71417	0.022000	0.16811	0.028000	0.11728	7.600000	0.82769	0.912000	0.36772	0.491000	0.48974	GGA	MAN1B1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.577	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	G	NM_016219		139994205	1	no_errors	ENST00000371589	ensembl	human	known	70_37	missense	SNP	0.997	A	A	139994205	G	A	139994205	3	1	161	1	0	0	0	0	1	0	0	0	9235	1174	41	1	810	1	MAN1B1	9	139994205	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	11929295	139994205	1219226	59	30578										
CTNNA3	29119	genome.wustl.edu	37	chr10	68940115	68940115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gcagatcctgaagagcctggCgaatggcgttgcattctgcg	14	10	1	3	rs372482202		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:68940115C>T	ENST00000433211.2	-	7	1181	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R336H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R336H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAGAGCCTGGCGAATGGCGTT	0.517																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	121	105	110		1007,1007	5.7	1	10		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	336/896,336/896	68940115	1,13005	2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1007G>A	10.37:g.68940115C>T	ENSP00000389714:p.Arg336His			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R336H	ENST00000433211.2	37	c.1007	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.416657	0.96092	0.0	1.16E-4	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.40225	1.04;1.04;1.13	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000086	T	0.71753	0.3377	M	0.89214	3.015	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.999;0.93;0.997	T	0.76639	-0.2885	10	0.72032	D	0.01	-5.6623	18.6302	0.91357	0.0:1.0:0.0:0.0	.	336;336;336;336	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	H	336	ENSP00000389714:R336H;ENSP00000362849:R336H;ENSP00000441444:R336H	ENSP00000362849:R336H	R	-	2	0	CTNNA3	68610121	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.682000	0.91365	0.585000	0.79938	CGC	CTNNA3	-	pfam_Vinculin/catenin		0.517	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	C	NM_013266		68940115	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68940115	C	T	68940115	3	4	161	1	0	0	0	0	1	0	0	0	4019	768	27	2	1728	2	CTNNA3	10	68940115	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09		68940115	66594632	60	30579										
KIAA1279	26128	genome.wustl.edu	37	chr10	70775886	70775886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cttagactccctgagagaccCaaataaagtattccctgagc	7	12	0	4			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:70775886C>T	ENST00000361983.4	+	7	1682	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	527					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTGAGAGACCCAAATAAAGTA	0.408																																																	0													83	81	82					10																	70775886		2203	4300	6503	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1580C>T	10.37:g.70775886C>T	ENSP00000354848:p.Pro527Leu		A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.P527L	ENST00000361983.4	37	c.1580	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000406	0.54147	.	.	ENSG00000198954	ENST00000361983	T	0.49720	0.77	5.45	5.45	0.79879	.	0.047800	0.85682	D	0.000000	T	0.41743	0.1172	L	0.41236	1.265	0.80722	D	1	B	0.33637	0.42	B	0.31547	0.132	T	0.18241	-1.0343	10	0.24483	T	0.36	-29.8093	19.6556	0.95837	0.0:1.0:0.0:0.0	.	527	Q96EK5	KBP_HUMAN	L	527	ENSP00000354848:P527L	ENSP00000354848:P527L	P	+	2	0	KIAA1279	70445892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.940000	0.70187	2.725000	0.93324	0.655000	0.94253	CCA	KIAA1279	-	pfam_KBP		0.408	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	C	NM_015634		70775886	1	no_errors	ENST00000361983	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70775886	C	T	70775886	3	4	161	1	0	0	0	0	1	0	0	0	8241	594	21	4	1606	4	KIAA1279	10	70775886	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	1835771	70775886	64758861	61	30580										
SGPL1	8879	genome.wustl.edu	37	chr10	72614556	72614556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gtatgtgaaagctttaccctCccagggtctgagctcatctg	10	11	3	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:72614556C>A	ENST00000373202.3	+	5	553	c.353C>A	c.(352-354)tCc>tAc	p.S118Y		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	118					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GCTTTACCCTCCCAGGGTCTG	0.418																																					Colon(151;1054 2458 6676 40971)												0													236	224	228					10																	72614556		2203	4300	6503	SO:0001583	missense	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.353C>A	10.37:g.72614556C>A	ENSP00000362298:p.Ser118Tyr		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S118Y	ENST00000373202.3	37	c.353	CCDS31216.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.19|17.19	3.325928|3.325928	0.60743|0.60743	.|.	.|.	ENSG00000166224|ENSG00000166224	ENST00000409118|ENST00000373202;ENST00000299297	.|T;T	.|0.45276	.|0.9;0.96	5.83|5.83	2.9|2.9	0.33743|0.33743	.|Pyridoxal phosphate-dependent transferase, major domain (1);	.|1.291520	.|0.04571	.|N	.|0.393212	T|T	0.41143|0.41143	0.1146|0.1146	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B	.|0.30526	.|0.283	.|B	.|0.33392	.|0.163	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.72032	.|D	.|0.01	-2.3768|-2.3768	7.4128|7.4128	0.27027|0.27027	0.0:0.7127:0.1363:0.151|0.0:0.7127:0.1363:0.151	.|.	.|118	.|O95470	.|SGPL1_HUMAN	T|Y	32|118;101	.|ENSP00000362298:S118Y;ENSP00000299297:S101Y	.|ENSP00000299297:S101Y	P|S	+|+	1|2	0|0	SGPL1|SGPL1	72284562|72284562	0.010000|0.010000	0.17322|0.17322	0.439000|0.439000	0.26833|0.26833	0.765000|0.765000	0.43378|0.43378	2.340000|2.340000	0.43974|0.43974	0.825000|0.825000	0.34637|0.34637	0.491000|0.491000	0.48974|0.48974	CCC|TCC	SGPL1	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.418	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	C	NM_003901		72614556	1	no_errors	ENST00000373202	ensembl	human	known	70_37	missense	SNP	0.354	A	A	72614556	C	A	72614556	3	1	161	1	0	0	0	0	1	0	0	0	14248	855	30	3	367	3	SGPL1	10	72614556	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	1838670	72614556	62920191	62	30581										
VCL	7414	genome.wustl.edu	37	chr10	75857001	75857001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	aggaggccatgactcaggaaGtgtcagatgttttcagcgat	13	7	3	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:75857001G>T	ENST00000211998.4	+	13	1877	c.1783G>T	c.(1783-1785)Gtg>Ttg	p.V595L	VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.V595L|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	595	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GACTCAGGAAGTGTCAGATGT	0.468																																																	0													148	138	141					10																	75857001		2203	4300	6503	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1783G>T	10.37:g.75857001G>T	ENSP00000211998:p.Val595Leu		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.V595L	ENST00000211998.4	37	c.1783	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.499326	0.96355	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.53640	0.61;0.61;0.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.61703	1.905	0.80722	D	1	P;D;P	0.59357	0.855;0.985;0.92	P;D;D	0.71184	0.897;0.972;0.956	T	0.68827	-0.5306	10	0.72032	D	0.01	.	19.8192	0.96586	0.0:0.0:1.0:0.0	.	522;595;595	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	L	595;595;502;522;267	ENSP00000361841:V595L;ENSP00000211998:V595L;ENSP00000415489:V267L	ENSP00000211998:V595L	V	+	1	0	VCL	75527007	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.420000	0.97426	2.751000	0.94390	0.644000	0.83932	GTG	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.468	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		G	NM_003373, NM_014000		75857001	1	no_errors	ENST00000211998	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75857001	G	T	75857001	3	4	161	1	0	0	0	0	1	0	0	0	17170	1029	36	4	1833	4	VCL	10	75857001	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	3242445	75857001	59677746	63	30582										
LRIT2	340745	genome.wustl.edu	37	chr10	85985198	85985198	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ctcctctgagcaagtgcatcCtggcagacagaaaggctgag	12	11	1	4			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:85985198C>A	ENST00000372113.4	-	1	84	c.79G>T	c.(79-81)Gga>Tga	p.G27*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.G27*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	27	LRRNT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CAAGTGCATCCTGGCAGACAG	0.473																																																	0													69	65	67					10																	85985198		2203	4300	6503	SO:0001587	stop_gained	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.79G>T	10.37:g.85985198C>A	ENSP00000361185:p.Gly27*		B7ZME6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G27*	ENST00000372113.4	37	c.79	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.166469	0.94768	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	.	.	.	5.87	5.87	0.94306	.	0.159775	0.37955	N	0.001864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	18.9802	0.92752	0.0:1.0:0.0:0.0	.	.	.	.	X	27	.	ENSP00000361185:G27X	G	-	1	0	LRIT2	85975178	1.000000	0.71417	0.230000	0.23976	0.732000	0.41865	5.175000	0.65021	2.791000	0.96007	0.655000	0.94253	GGA	LRIT2	-	NULL		0.473	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	C	XM_291697		85985198	-1	no_errors	ENST00000538192	ensembl	human	known	70_37	nonsense	SNP	0.601	A	A	85985198	C	A	85985198	4	1	161	1	0	0	0	0	0	1	0	0	8971	690	24	4	1585	4	LRIT2	10	85985198	Nonsense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	10128197	85985198	49549549	64	30583										
STAMBPL1	57559	genome.wustl.edu	37	chr10	90673020	90673020	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	agttagcccgaggtcaaatgCgaagtcagcaaacctcaggg	12	10	3	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:90673020C>T	ENST00000371926.3	+	6	1541	c.583C>T	c.(583-585)Cga>Tga	p.R195*	STAMBPL1_ENST00000371922.1_Nonsense_Mutation_p.R29*|STAMBPL1_ENST00000371924.1_Nonsense_Mutation_p.R195*|STAMBPL1_ENST00000371927.3_Nonsense_Mutation_p.R195*	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	195						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGGTCAAATGCGAAGTCAGCA	0.488																																																	0													119	109	112					10																	90673020		2203	4300	6503	SO:0001587	stop_gained	57559			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.583C>T	10.37:g.90673020C>T	ENSP00000360994:p.Arg195*		B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Nonsense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.R195*	ENST00000371926.3	37	c.583	CCDS7391.1	10	.	.	.	.	.	.	.	.	.	.	C	46	12.630000	0.99684	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	.	.	.	5.97	5.02	0.67125	.	0.632453	0.13823	N	0.360237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-0.133	11.6643	0.51364	0.1766:0.8234:0.0:0.0	.	.	.	.	X	195;195;195;29	.	ENSP00000360990:R29X	R	+	1	2	STAMBPL1	90663000	0.289000	0.24334	0.811000	0.32455	0.840000	0.47671	1.505000	0.35736	2.829000	0.97493	0.650000	0.86243	CGA	STAMBPL1	-	NULL		0.488	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBPL1	HGNC	protein_coding	OTTHUMT00000049283.1	C	NM_020799		90673020	1	no_errors	ENST00000371927	ensembl	human	known	70_37	nonsense	SNP	0.765	T	T	90673020	C	T	90673020	4	4	161	1	0	0	0	0	0	1	0	0	15281	760	27	2	601	2	STAMBPL1	10	90673020	Nonsense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	4687822	90673020	44861727	65	30584										
PLCE1	51196	genome.wustl.edu	37	chr10	96081752	96081752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ccaagtgcatgatgtttctcCagagcaacctcgaacagtca	8	12	2	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:96081752C>A	ENST00000371380.3	+	29	6672	c.6437C>A	c.(6436-6438)cCa>cAa	p.P2146Q	PLCE1_ENST00000260766.3_Missense_Mutation_p.P2146Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.P1838Q|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1838Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2146	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATGTTTCTCCAGAGCAACCT	0.473																																																	0													119	121	120					10																	96081752		2044	4193	6237	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6437C>A	10.37:g.96081752C>A	ENSP00000360431:p.Pro2146Gln		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P2146Q	ENST00000371380.3	37	c.6437	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981979	0.93044	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.83	5.83	0.93111	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.02333	-1.1175	10	0.45353	T	0.12	.	19.7299	0.96177	0.0:1.0:0.0:0.0	.	2130;1838;2146	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	2146;2146;1838;1838	ENSP00000260766:P2146Q;ENSP00000360431:P2146Q;ENSP00000360438:P1838Q;ENSP00000360426:P1838Q	ENSP00000260766:P2146Q	P	+	2	0	PLCE1	96071742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.385000	0.79763	2.759000	0.94783	0.650000	0.86243	CCA	PLCE1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		96081752	1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96081752	C	A	96081752	3	1	161	1	0	0	0	0	1	0	0	0	12058	594	21	4	6837	4	PLCE1	10	96081752	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	5408732	96081752	39452995	66	30585										
SEC31B	25956	genome.wustl.edu	37	chr10	102247514	102247514	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cttcctgcatccacacatcgGgcaacctcatggagcccagc	8	17	1	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:102247514G>T	ENST00000370345.3	-	26	3496	c.3399C>A	c.(3397-3399)gcC>gcA	p.A1133A		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1133					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCACACATCGGGCAACCTCAT	0.597																																																	0													42	40	41					10																	102247514		2203	4300	6503	SO:0001819	synonymous_variant	25956			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3399C>A	10.37:g.102247514G>T			B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1133	ENST00000370345.3	37	c.3399	CCDS7495.1	10																																																																																			SEC31B	-	NULL		0.597	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	G	NM_015490		102247514	-1	no_errors	ENST00000370345	ensembl	human	known	70_37	silent	SNP	1.000	T	T	102247514	G	T	102247514	2	4	161	1	0	0	0	0	0	0	0	1	14029	1219	43	4		4	SEC31B	10	102247514	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	6165762	102247514	33287233	67	30586										
SLK	9748	genome.wustl.edu	37	chr10	105763175	105763175	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ctgagaatccaaaggaaaatGataatgattcaggcactggt	10	6	1	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:105763175G>T	ENST00000369755.3	+	9	2784	c.2239G>T	c.(2239-2241)Gat>Tat	p.D747Y	SLK_ENST00000335753.4_Missense_Mutation_p.D747Y	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	747					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAGGAAAATGATAATGATTC	0.348																																					NSCLC(111;540 1651 1927 4474 17706)												0													51	55	54					10																	105763175		2182	4290	6472	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2239G>T	10.37:g.105763175G>T	ENSP00000358770:p.Asp747Tyr		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom	p.D747Y	ENST00000369755.3	37	c.2239	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846218	0.71603	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.70749	-0.51;-0.51	5.41	5.41	0.78517	Protein kinase-like domain (1);	0.160002	0.56097	D	0.000038	D	0.84593	0.5506	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84909	0.0847	10	0.59425	D	0.04	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	747;747	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Y	747	ENSP00000336824:D747Y;ENSP00000358770:D747Y	ENSP00000336824:D747Y	D	+	1	0	SLK	105753165	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.263000	0.95617	2.821000	0.97095	0.555000	0.69702	GAT	SLK	-	superfamily_Kinase-like_dom		0.348	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	G	NM_014720		105763175	1	no_errors	ENST00000369755	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105763175	G	T	105763175	3	4	161	1	0	0	0	0	1	0	0	0	14778	1290	45	3	2273	3	SLK	10	105763175	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	3515661	105763175	29771572	68	30587										
COL17A1	1308	genome.wustl.edu	37	chr10	105797434	105797434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tggcttgccagctctgagtaGtcgaaagtctcgcctgtgat	12	10	2	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr10:105797434G>T	ENST00000353479.5	-	46	3458	c.3168C>A	c.(3166-3168)gaC>gaA	p.D1056E	COL17A1_ENST00000369733.3_Missense_Mutation_p.D1011E	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1056	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTCTGAGTAGTCGAAAGTCT	0.587																																																	0													107	100	102					10																	105797434		2203	4300	6503	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3168C>A	10.37:g.105797434G>T	ENSP00000340937:p.Asp1056Glu		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.D1056E	ENST00000353479.5	37	c.3168	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232764	0.39498	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.92965	-3.14;-2.98	5.27	4.36	0.52297	.	0.582419	0.15073	N	0.282065	D	0.88112	0.6349	M	0.73217	2.22	0.80722	D	1	B	0.26400	0.148	B	0.24701	0.055	T	0.78026	-0.2365	10	0.02654	T	1	-7.6502	7.6883	0.28552	0.2292:0.0:0.7708:0.0	.	1056	Q9UMD9	COHA1_HUMAN	E	1056;1011	ENSP00000340937:D1056E;ENSP00000358748:D1011E	ENSP00000340937:D1056E	D	-	3	2	COL17A1	105787424	1.000000	0.71417	0.762000	0.31397	0.112000	0.19704	1.844000	0.39269	1.197000	0.43143	0.561000	0.74099	GAC	COL17A1	-	NULL		0.587	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	G	NM_130778, NM_000494		105797434	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	missense	SNP	0.996	T	T	105797434	G	T	105797434	3	4	161	1	0	0	0	0	1	0	0	0	3679	1020	36	4	1369	4	COL17A1	10	105797434	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	34259	105797434	29737313	69	30588										
TRPM5	29850	genome.wustl.edu	37	chr11	2436530	2436530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ccgggcctcctcctgcttccGctgcagcaggtcgaagagca	12	16	0	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr11:2436530G>A	ENST00000155858.6	-	9	1308	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	TRPM5_ENST00000528453.1_Missense_Mutation_p.R434W|TRPM5_ENST00000452833.1_Missense_Mutation_p.R436W|TRPM5_ENST00000533060.1_Missense_Mutation_p.R434W	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCTGCTTCCGCTGCAGCAGG	0.711																																					NSCLC(1;49 61 17205 18850 43201)												0													8	9	9					11																	2436530		2172	4261	6433	SO:0001583	missense	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1300C>T	11.37:g.2436530G>A	ENSP00000155858:p.Arg434Trp			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.R436W	ENST00000155858.6	37	c.1306	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812984	0.70912	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	3.17	2.13	0.27403	.	0.571174	0.16728	N	0.201975	T	0.48572	0.1507	L	0.61218	1.895	0.32884	D	0.510938	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.61397	0.857;0.857;0.888	T	0.60244	-0.7301	10	0.87932	D	0	-8.809	8.0378	0.30504	0.0:0.0:0.5487:0.4513	.	434;436;434	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	W	428;434;436;434;434;434	ENSP00000434383:R428W;ENSP00000155858:R434W;ENSP00000387965:R436W;ENSP00000434121:R434W;ENSP00000436809:R434W	ENSP00000155858:R434W	R	-	1	2	TRPM5	2393106	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.284000	0.51708	1.810000	0.52873	0.485000	0.47835	CGG	TRPM5	-	NULL		0.711	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	G	NM_014555		2436530	-1	no_errors	ENST00000452833	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2436530	G	A	2436530	3	1	161	1	0	0	0	0	1	0	0	0	16620	1086	38	2	2261	2	TRPM5	11	2436530	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		2436530	132569986	70	30589										
CEP57	9702	genome.wustl.edu	37	chr11	95532468	95532468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	catctccatatgtagtatatCcttcggataagcctttcctt	5	11	1	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr11:95532468C>A	ENST00000325542.5	+	2	356	c.118C>A	c.(118-120)Cct>Act	p.P40T	CEP57_ENST00000541150.1_Missense_Mutation_p.P31T|CEP57_ENST00000538658.1_Missense_Mutation_p.P40T|CEP57_ENST00000325486.5_Missense_Mutation_p.P40T|CEP57_ENST00000537677.1_Missense_Mutation_p.P13T	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	40					fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTAGTATATCCTTCGGATAA	0.423									Mosaic Variegated Aneuploidy Syndrome																																								0													157	141	146					11																	95532468		2201	4298	6499	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.118C>A	11.37:g.95532468C>A	ENSP00000317902:p.Pro40Thr		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.P40T	ENST00000325542.5	37	c.118	CCDS8304.1	11	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053995	0.55218	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	T;T;T;T;T;T	0.74526	0.02;0.65;0.66;-0.43;-0.85;-0.18	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000005	D	0.83968	0.5369	L	0.54323	1.7	0.51233	D	0.999914	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.998	D	0.85757	0.1347	10	0.87932	D	0	-5.8466	18.114	0.89545	0.0:1.0:0.0:0.0	.	31;40;40;40	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	T	13;40;40;31;13;40;31	ENSP00000441392:P13T;ENSP00000317902:P40T;ENSP00000317487:P40T;ENSP00000445821:P13T;ENSP00000445706:P40T;ENSP00000443436:P31T	ENSP00000317487:P40T	P	+	1	0	CEP57	95172116	1.000000	0.71417	0.985000	0.45067	0.213000	0.24496	4.579000	0.60936	2.424000	0.82194	0.655000	0.94253	CCT	CEP57	-	NULL		0.423	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	C	NM_014679		95532468	1	no_errors	ENST00000325542	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95532468	C	A	95532468	3	1	161	1	0	0	0	0	1	0	0	0	3261	855	30	3	124	3	CEP57	11	95532468	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	93095938	95532468	39474048	71	30590										
FEZ1	9638	genome.wustl.edu	37	chr11	125351442	125351442	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	agaggtacctcagtgtcagaGcagttgccattcagagcctc	11	11	3	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr11:125351442G>T	ENST00000278919.3	-	3	633	c.399C>A	c.(397-399)tgC>tgA	p.C133*	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	133					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CAGTGTCAGAGCAGTTGCCAT	0.478																																					Melanoma(180;509 2033 10762 15939 24711)												0													166	170	169					11																	125351442		2201	4299	6500	SO:0001587	stop_gained	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.399C>A	11.37:g.125351442G>T	ENSP00000278919:p.Cys133*		O00679|O00728|Q6IBI7	Nonsense_Mutation	SNP	pfam_FEZ	p.C133*	ENST00000278919.3	37	c.399	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.849098	0.98522	.	.	ENSG00000149557	ENST00000278919	.	.	.	5.89	4.04	0.47022	.	0.390699	0.33938	N	0.004409	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-2.0068	7.3915	0.26913	0.1487:0.1379:0.7134:0.0	.	.	.	.	X	133	.	ENSP00000278919:C133X	C	-	3	2	FEZ1	124856652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.013000	0.29937	0.838000	0.34948	0.655000	0.94253	TGC	FEZ1	-	pfam_FEZ		0.478	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	G	NM_005103		125351442	-1	no_errors	ENST00000278919	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	125351442	G	T	125351442	4	4	161	1	0	0	0	0	0	1	0	0	5841	963	34	4	811	4	FEZ1	11	125351442	Nonsense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	29818974	125351442	9655074	72	30591										
CACNA1C	775	genome.wustl.edu	37	chr12	2794937	2794937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tgacgaaaatcggcaactgaCgctcccagaggaggacaaga	12	10	0	4	rs201777030		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr12:2794937C>T	ENST00000347598.4	+	46	5753	c.5753C>T	c.(5752-5754)aCg>aTg	p.T1918M	CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1890M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1876M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1887M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1889M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1911M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1898M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1895M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1941M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1870M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1953					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1911M(1)|p.T1983M(1)|p.T1405M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCAACTGACGCTCCCAGAG	0.582																																																	3	Substitution - Missense(3)	skin(3)											49	49	49					12																	2794937		2012	4159	6171	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5753C>T	12.37:g.2794937C>T	ENSP00000266376:p.Thr1918Met		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.T1941M	ENST00000347598.4	37	c.5822	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802724	0.50315	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.26	4.26	0.50523	.	29.029300	0.00550	N	0.000258	T	0.70133	0.3189	L	0.56769	1.78	0.34775	D	0.734153	P;P;D;P;P;D;D;P;P;D;P;D;P;P;D;P;P;B;P;P;D;P;P;D;D	0.65815	0.863;0.922;0.995;0.664;0.934;0.988;0.992;0.869;0.638;0.966;0.922;0.989;0.927;0.783;0.992;0.677;0.927;0.317;0.922;0.485;0.985;0.869;0.869;0.981;0.995	B;P;P;B;P;P;P;P;B;P;P;P;P;P;P;B;P;B;P;B;P;P;P;P;P	0.56916	0.238;0.595;0.809;0.146;0.756;0.647;0.795;0.595;0.282;0.553;0.595;0.736;0.521;0.595;0.65;0.391;0.521;0.299;0.595;0.229;0.542;0.595;0.595;0.46;0.809	T	0.60281	-0.7294	10	0.38643	T	0.18	.	16.9179	0.86156	0.0:1.0:0.0:0.0	.	561;1911;1867;1953;1905;1889;1870;1887;1898;1870;1890;1870;1901;1918;1870;1905;1941;1878;1876;1878;1859;1889;1889;1870;1870	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1895;1870;1870;1898;1870;1889;1889;1878;1870;1918;1890;1870;1911;1887;1905;1876;1889;1870;1941;1905;1941;1878;1771	ENSP00000336982:T1895M;ENSP00000382563:T1870M;ENSP00000382552:T1870M;ENSP00000382547:T1898M;ENSP00000382506:T1870M;ENSP00000382530:T1889M;ENSP00000382546:T1889M;ENSP00000382500:T1878M;ENSP00000382549:T1870M;ENSP00000266376:T1918M;ENSP00000382515:T1890M;ENSP00000382510:T1870M;ENSP00000341092:T1911M;ENSP00000382537:T1887M;ENSP00000329877:T1905M;ENSP00000382557:T1876M;ENSP00000385724:T1889M;ENSP00000382512:T1870M;ENSP00000382542:T1941M;ENSP00000382526:T1905M;ENSP00000385896:T1941M;ENSP00000382504:T1878M	ENSP00000323129:T1771M	T	+	2	0	CACNA1C	2665198	1.000000	0.71417	0.106000	0.21319	0.488000	0.33401	5.733000	0.68571	2.202000	0.70862	0.449000	0.29647	ACG	CACNA1C	-	NULL		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2794937	1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	0.939	T	T	2794937	C	T	2794937	3	4	161	1	0	0	0	0	1	0	0	0	2545	536	19	2	6492	2	CACNA1C	12	2794937	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09		2794937	131056958	73	30592										
IFLTD1	160492	genome.wustl.edu	37	chr12	25679784	25679784	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tgtccattcacattttgctgGagaatatgatctccaattgc	7	9	2	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr12:25679784G>T	ENST00000282881.6	-	4	683	c.534C>A	c.(532-534)ctC>ctA	p.L178L	IFLTD1_ENST00000413632.2_Silent_p.L199L|IFLTD1_ENST00000539744.1_Silent_p.L81L|IFLTD1_ENST00000458174.2_Silent_p.L199L|IFLTD1_ENST00000445693.1_Silent_p.L115L	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		178	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CATTTTGCTGGAGAATATGAT	0.378																																																	0													146	141	143					12																	25679784		2203	4300	6503	SO:0001819	synonymous_variant	160492																														ENST00000282881.6:c.534C>A	12.37:g.25679784G>T			B4DL27|B4DY70|Q8IY38	Silent	SNP	pfam_Lamin_tail_dom	p.L199	ENST00000282881.6	37	c.597	CCDS8704.1	12																																																																																			IFLTD1	-	pfam_Lamin_tail_dom		0.378	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFLTD1	HGNC	protein_coding	OTTHUMT00000402279.1	G			25679784	-1	no_errors	ENST00000458174	ensembl	human	known	70_37	silent	SNP	0.986	T	T	25679784	G	T	25679784	2	4	161	1	0	0	0	0	0	0	0	1	7550	1161	41	3		3	IFLTD1	12	25679784	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	22884847	25679784	108172111	74	30593										
RSRC2	65117	genome.wustl.edu	37	chr12	122995725	122995725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ctgttcttgtaatttctttgCcctttccaacctgcaaaatt	4	11	2	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr12:122995725C>A	ENST00000331738.7	-	7	881	c.736G>T	c.(736-738)Gca>Tca	p.A246S	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.A198S	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	246							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		AATTTCTTTGCCCTTTCCAAC	0.299																																																	0													88	81	83					12																	122995725		2202	4299	6501	SO:0001583	missense	65117			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.736G>T	12.37:g.122995725C>A	ENSP00000330188:p.Ala246Ser		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.A246S	ENST00000331738.7	37	c.736	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424358	0.83667	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.21543	2.0;2.0;2.0	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D;D	0.61697	0.99;0.972;0.99;0.972;0.972	D;D;D;D;P	0.70935	0.971;0.971;0.971;0.971;0.866	T	0.02179	-1.1200	10	0.14656	T	0.56	.	17.9941	0.89177	0.0:1.0:0.0:0.0	.	246;198;246;187;14	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4;B3KMH4	.;.;RSRC2_HUMAN;.;.	S	246;198;246;187	ENSP00000330188:A246S;ENSP00000346678:A198S;ENSP00000343315:A187S	ENSP00000330188:A246S	A	-	1	0	RSRC2	121561678	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.920000	0.70017	2.656000	0.90262	0.591000	0.81541	GCA	RSRC2	-	NULL		0.299	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	C	NM_023012		122995725	-1	no_errors	ENST00000331738	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122995725	C	A	122995725	3	1	161	1	0	0	0	0	1	0	0	0	13745	739	26	4	584	4	RSRC2	12	122995725	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	97315941	122995725	10856170	75	30594										
GOLGA3	2802	genome.wustl.edu	37	chr12	133372557	133372557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ctccttgccactcttggccgCctgcaaagccgcctccaaga	8	18	1	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr12:133372557C>T	ENST00000450791.2	-	10	2533	c.2350G>A	c.(2350-2352)Gcg>Acg	p.A784T	GOLGA3_ENST00000545875.1_Missense_Mutation_p.A784T|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A784T|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A784T|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A784T			Q08378	GOGA3_HUMAN	golgin A3	784					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCTTGGCCGCCTGCAAAGCC	0.577																																																	0													63	65	65					12																	133372557		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2350G>A	12.37:g.133372557C>T	ENSP00000410378:p.Ala784Thr		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.A784T	ENST00000450791.2	37	c.2350	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762936	0.31228	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.47528	1.4;1.4;1.4;0.84;0.84	5.54	3.68	0.42216	.	0.144128	0.64402	N	0.000008	T	0.31796	0.0808	L	0.35414	1.06	0.80722	D	1	B;B;B	0.16603	0.015;0.008;0.018	B;B;B	0.17722	0.012;0.012;0.019	T	0.06481	-1.0824	10	0.13470	T	0.59	.	8.2714	0.31846	0.1311:0.73:0.0:0.1389	.	784;784;784	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	T	784	ENSP00000204726:A784T;ENSP00000410378:A784T;ENSP00000409303:A784T;ENSP00000442143:A784T;ENSP00000442603:A784T	ENSP00000204726:A784T	A	-	1	0	GOLGA3	131882630	1.000000	0.71417	0.233000	0.24025	0.257000	0.26127	2.693000	0.47027	0.675000	0.31264	0.655000	0.94253	GCG	GOLGA3	-	NULL		0.577	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133372557	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133372557	C	T	133372557	3	4	161	1	0	0	0	0	1	0	0	0	6573	739	26	4	2340	4	GOLGA3	12	133372557	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	10376832	133372557	479338	76	30595										
KLHL1	57626	genome.wustl.edu	37	chr13	70281894	70281894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tctgggcatactcaaaggagCcaccatggtccaagtgtctg	11	11	3	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr13:70281894C>A	ENST00000377844.4	-	10	2809	c.2050G>T	c.(2050-2052)Gct>Tct	p.A684S	KLHL1_ENST00000545028.1_Missense_Mutation_p.A491S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	684					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCAAAGGAGCCACCATGGTC	0.378																																																	0													118	99	106					13																	70281894		2203	4299	6502	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2050G>T	13.37:g.70281894C>A	ENSP00000367075:p.Ala684Ser		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A684S	ENST00000377844.4	37	c.2050	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030299	0.54790	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.78816	-1.21;-1.21	5.43	4.53	0.55603	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000008	T	0.71031	0.3292	L	0.31120	0.905	0.39767	D	0.972102	B;B	0.18013	0.025;0.01	B;B	0.31245	0.126;0.126	T	0.70026	-0.4985	10	0.51188	T	0.08	.	15.303	0.73969	0.1405:0.8595:0.0:0.0	.	684;684	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	S	684;491	ENSP00000367075:A684S;ENSP00000439602:A491S	ENSP00000367075:A684S	A	-	1	0	KLHL1	69179895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.765000	0.55272	2.710000	0.92621	0.650000	0.86243	GCT	KLHL1	-	pfam_Kelch_1,smart_Kelch_1		0.378	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	C	NM_020866		70281894	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70281894	C	A	70281894	3	1	161	1	0	0	0	0	1	0	0	0	8385	739	26	4	204	4	KLHL1	13	70281894	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09		70281894	44887984	77	30596										
MYO16	23026	genome.wustl.edu	37	chr13	109831945	109831945	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ataagtggcacagggacttcGacatttcaaagacacaggga	11	8	1	1	rs371399500		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr13:109831945G>T	ENST00000357550.2	+	33	5354	c.5313G>T	c.(5311-5313)tcG>tcT	p.S1771S	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Silent_p.S1771S	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGGGACTTCGACATTTCAAA	0.433																																																	0													188	157	168					13																	109831945		2203	4300	6503	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5313G>T	13.37:g.109831945G>T				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1771	ENST00000357550.2	37	c.5313	CCDS32008.1	13																																																																																			MYO16	-	NULL		0.433	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	G	NM_015011		109831945	1	no_errors	ENST00000356711	ensembl	human	known	70_37	silent	SNP	0.000	T	T	109831945	G	T	109831945	2	4	161	1	0	0	0	0	0	0	0	1	10087	1045	37	3		3	MYO16	13	109831945	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	39550051	109831945	5337933	78	30597										
FOXG1	2290	genome.wustl.edu	37	chr14	29236510	29236510	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tggacatgggagataggaaaGaggtgaaaatgatccccaag	14	5	0	4			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr14:29236510G>C	ENST00000313071.4	+	1	224	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.E9Q	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	9					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGATAGGAAAGAGGTGAAAAT	0.677																																																	0													44	38	40					14																	29236510		2201	4293	6494	SO:0001583	missense	2290				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.25G>C	14.37:g.29236510G>C	ENSP00000339004:p.Glu9Gln		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E9Q	ENST00000313071.4	37	c.25	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273323	0.59649	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	T;T	0.42900	0.96;0.96	1.99	1.99	0.26369	.	0.852762	0.09466	U	0.798306	T	0.30634	0.0771	L	0.36672	1.1	0.37081	D	0.899003	P	0.35700	0.516	B	0.23018	0.043	T	0.40365	-0.9567	10	0.87932	D	0	.	11.8435	0.52368	0.0:0.0:1.0:0.0	.	9	P55316	FOXG1_HUMAN	Q	9	ENSP00000371975:E9Q;ENSP00000339004:E9Q	ENSP00000339004:E9Q	E	+	1	0	FOXG1	28306261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.319000	0.59197	1.078000	0.41014	0.450000	0.29827	GAG	FOXG1	-	NULL		0.677	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	G			29236510	1	no_errors	ENST00000313071	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29236510	G	C	29236510	3	2	161	1	0	0	0	0	1	0	0	0	6025	943	33	1	27	1	FOXG1	14	29236510	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		29236510	78113030	79	30598										
TUBGCP5	114791	genome.wustl.edu	37	chr15	22867457	22867457	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tgctcttccaatgttttataGaactggttagtactgcagaa	8	7	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr15:22867457G>C	ENST00000283645.4	+	19	2663		c.e19-1		TUBGCP5_ENST00000453949.2_Splice_Site	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATGTTTTATAGAACTGGTTAG	0.453																																																	0													95	88	90					15																	22867457		2203	4300	6503	SO:0001630	splice_region_variant	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2534-1G>C	15.37:g.22867457G>C			E9PB12|Q6IQ52|Q96PY8	Splice_Site	SNP	-	e19-1	ENST00000283645.4	37	c.2534-1	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513055	0.44660	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8338	0.92153	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TUBGCP5	20418898	1.000000	0.71417	0.863000	0.33907	0.480000	0.33159	6.831000	0.75324	2.752000	0.94435	0.655000	0.94253	.	TUBGCP5	-	-		0.453	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	G	NM_052903	Intron	22867457	1	no_errors	ENST00000283645	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	22867457	G	C	22867457	5	2	161	1	0	0	0	0	0	0	1	0	16800	956	33	1	2607	1	TUBGCP5	15	22867457	Splice_Site	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		22867457	79663935	80	30599										
HCN4	10021	genome.wustl.edu	37	chr15	73659973	73659973	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gccccgaactggcgctgcatGaagccggcctggcccaggcg	15	16	0	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr15:73659973G>A	ENST00000261917.3	-	1	1632	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	213	Involved in subunit assembly. {ECO:0000250}.				blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGCGCTGCATGAAGCCGGCCT	0.667																																																	0													35	39	37					15																	73659973		2198	4297	6495	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.639C>T	15.37:g.73659973G>A			Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.F213	ENST00000261917.3	37	c.639	CCDS10248.1	15																																																																																			HCN4	-	NULL		0.667	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	G	NM_005477		73659973	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73659973	G	A	73659973	2	1	161	1	0	0	0	0	0	0	0	1	7019	1281	45	1		1	HCN4	15	73659973	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	50792516	73659973	28871419	81	30600										
ZP2	7783	genome.wustl.edu	37	chr16	21210183	21210183	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ctgcttcagtggcccctgtgGctggagacagatgatcaagt	13	10	2	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr16:21210183G>A	ENST00000574002.1	-	18	2410	c.1928C>T	c.(1927-1929)gCc>gTc	p.A643V	ZP2_ENST00000219593.4_Splice_Site_p.A643V|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Splice_Site_p.A634V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	643					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GGCCCCTGTGGCTGGAGACAG	0.483																																																	0													99	88	91					16																	21210183		2200	4300	6500	SO:0001630	splice_region_variant	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1928-1C>T	16.37:g.21210183G>A			B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.A643V	ENST00000574002.1	37	c.1928	CCDS10596.1	16	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457873	0.63401	.	.	ENSG00000103310	ENST00000219593	T	0.77750	-1.12	4.2	3.23	0.37069	.	0.542144	0.17570	N	0.169493	T	0.75466	0.3853	L	0.57536	1.79	0.21740	N	0.999568	P;P	0.41910	0.764;0.764	P;P	0.45794	0.493;0.493	T	0.64132	-0.6479	10	0.30854	T	0.27	.	9.5024	0.39026	0.0:0.0:0.7893:0.2107	.	634;643	Q4VAP1;Q05996	.;ZP2_HUMAN	V	643	ENSP00000219593:A643V	ENSP00000219593:A643V	A	-	2	0	ZP2	21117684	0.036000	0.19791	0.648000	0.29521	0.502000	0.33828	1.483000	0.35497	1.344000	0.45657	0.637000	0.83480	GCC	ZP2	-	NULL		0.483	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	G		Missense_Mutation	21210183	-1	no_errors	ENST00000219593	ensembl	human	known	70_37	missense	SNP	0.695	A	A	21210183	G	A	21210183	5	1	161	1	0	0	0	0	0	0	1	0	18246	1217	42	4	321	4	ZP2	16	21210183	Splice_Site	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		21210183	69144570	82	30601										
ADAMTS18	170692	genome.wustl.edu	37	chr16	77331190	77331190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cttccaaatgacttactaagCcgggcaggagaaagcgttgc	11	10	0	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr16:77331190C>A	ENST00000282849.5	-	18	3215	c.2797G>T	c.(2797-2799)Gct>Tct	p.A933S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	933	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTTACTAAGCCGGGCAGGAG	0.398																																																	0													170	164	166					16																	77331190		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2797G>T	16.37:g.77331190C>A	ENSP00000282849:p.Ala933Ser		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A933S	ENST00000282849.5	37	c.2797	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998230	0.74818	.	.	ENSG00000140873	ENST00000282849	T	0.58797	0.31	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.52759	1.655	0.80722	D	1	P;B	0.45044	0.849;0.124	P;B	0.45794	0.493;0.027	T	0.56854	-0.7910	10	0.37606	T	0.19	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	933;933	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	S	933	ENSP00000282849:A933S	ENSP00000282849:A933S	A	-	1	0	ADAMTS18	75888691	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.292000	0.65673	2.882000	0.98803	0.655000	0.94253	GCT	ADAMTS18	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	C			77331190	-1	no_errors	ENST00000282849	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77331190	C	A	77331190	3	1	161	1	0	0	0	0	1	0	0	0	263	739	26	4	892	4	ADAMTS18	16	77331190	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	56121007	77331190	13023563	83	30602										
GAN	8139	genome.wustl.edu	37	chr16	81411053	81411053	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ctacgtgcgtgagtttaaaaGaagcacaggaacctggcacc	11	10	0	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr16:81411053G>T	ENST00000568107.2	+	11	1808	c.1646G>T	c.(1645-1647)aGa>aTa	p.R549I		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	549					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAGTTTAAAAGAAGCACAGGA	0.478																																					GBM(106;1239 1507 7582 9741 33976)												0													196	173	181					16																	81411053		2201	4300	6501	SO:0001583	missense	8139			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1646G>T	16.37:g.81411053G>T	ENSP00000476795:p.Arg549Ile			Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R549I	ENST00000568107.2	37	c.1646	CCDS10935.1	16	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670785	0.67814	.	.	ENSG00000127688	ENST00000248272	T	0.62788	-0.0	5.67	5.67	0.87782	Galactose oxidase, beta-propeller (1);	0.145255	0.56097	D	0.000022	T	0.65565	0.2703	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.73949	-0.3821	10	0.87932	D	0	.	19.7682	0.96350	0.0:0.0:1.0:0.0	.	549	Q9H2C0	GAN_HUMAN	I	549	ENSP00000248272:R549I	ENSP00000248272:R549I	R	+	2	0	GAN	79968554	1.000000	0.71417	0.835000	0.33067	0.875000	0.50365	9.790000	0.99075	2.673000	0.90976	0.467000	0.42956	AGA	GAN	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.478	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAN	HGNC	protein_coding	OTTHUMT00000269050.3	G			81411053	1	no_errors	ENST00000248272	ensembl	human	known	70_37	missense	SNP	0.999	T	T	81411053	G	T	81411053	3	4	161	1	0	0	0	0	1	0	0	0	6251	942	33	3	1688	3	GAN	16	81411053	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	4079863	81411053	8943700	84	30603										
SCARF1	8578	genome.wustl.edu	37	chr17	1538767	1538767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gtgcaaacttggtaccttccGcgaaggagaccgatggccgc	13	12	0	1	rs371673485		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr17:1538767G>A	ENST00000263071.4	-	11	1827	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.A507V	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	593	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTACCTTCCGCGAAGGAGAC	0.682																																																	0								G	VAL/ALA,,VAL/ALA	0,4406		0,0,2203	62	65	64		1778,,1520	5.2	1	17		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	64,,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	593/831,,507/745	1538767	1,13005	2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1778C>T	17.37:g.1538767G>A	ENSP00000263071:p.Ala593Val		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.A593V	ENST00000263071.4	37	c.1778	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132343	0.77662	0.0	1.16E-4	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.38401	1.14;1.14	5.21	5.21	0.72293	.	0.000000	0.43110	D	0.000619	T	0.61825	0.2378	M	0.71581	2.175	0.49389	D	0.999789	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.65368	-0.6185	10	0.72032	D	0.01	-11.6789	18.7945	0.91988	0.0:0.0:1.0:0.0	.	507;593	Q14162-2;Q14162	.;SREC_HUMAN	V	593;507	ENSP00000263071:A593V;ENSP00000323964:A507V	ENSP00000263071:A593V	A	-	2	0	SCARF1	1485517	1.000000	0.71417	0.979000	0.43373	0.113000	0.19764	9.112000	0.94314	2.428000	0.82296	0.555000	0.69702	GCG	SCARF1	-	NULL		0.682	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	G	NM_003693		1538767	-1	no_errors	ENST00000263071	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1538767	G	A	1538767	3	1	161	1	0	0	0	0	1	0	0	0	13913	1087	38	2	718	2	SCARF1	17	1538767	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		1538767	79656443	85	30604										
MYH4	4622	genome.wustl.edu	37	chr17	10353794	10353794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cctcctccagctcctctgtgCgctggatggcgtccgtctcg	11	17	2	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr17:10353794C>T	ENST00000255381.2	-	30	4267	c.4157G>A	c.(4156-4158)cGc>cAc	p.R1386H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1386					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1386H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCTCTGTGCGCTGGATGGC	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											150	137	141					17																	10353794		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4157G>A	17.37:g.10353794C>T	ENSP00000255381:p.Arg1386His			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1386H	ENST00000255381.2	37	c.4157	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.075236	0.94000	.	.	ENSG00000141048	ENST00000255381	T	0.80480	-1.38	5.67	5.67	0.87782	Myosin tail (1);	0.000000	0.38272	U	0.001748	D	0.90940	0.7152	M	0.82823	2.61	0.49798	D	0.999821	D	0.89917	1.0	D	0.81914	0.995	D	0.91303	0.5068	10	0.87932	D	0	.	20.1979	0.98245	0.0:1.0:0.0:0.0	.	1386	Q9Y623	MYH4_HUMAN	H	1386	ENSP00000255381:R1386H	ENSP00000255381:R1386H	R	-	2	0	MYH4	10294519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.846000	0.97976	0.650000	0.86243	CGC	MYH4	-	pfam_Myosin_tail		0.522	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10353794	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10353794	C	T	10353794	3	4	161	1	0	0	0	0	1	0	0	0	10060	768	27	2	1706	2	MYH4	17	10353794	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	8815027	10353794	70841416	86	30605										
DNAH9	1770	genome.wustl.edu	37	chr17	11835466	11835466	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gctcatacccctttaacactGgagacctcactatctctgtg	6	14	3	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr17:11835466G>T	ENST00000262442.4	+	64	12309	c.12241G>T	c.(12241-12243)Gga>Tga	p.G4081*	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.G4005*|DNAH9_ENST00000608377.1_Nonsense_Mutation_p.G393*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4081	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTTAACACTGGAGACCTCAC	0.512																																																	0													154	134	141					17																	11835466		2203	4300	6503	SO:0001587	stop_gained	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12241G>T	17.37:g.11835466G>T	ENSP00000262442:p.Gly4081*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G4081*	ENST00000262442.4	37	c.12241	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	52	19.823577	0.99924	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	.	.	.	5.09	5.09	0.68999	.	0.214056	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6962	0.91601	0.0:0.0:1.0:0.0	.	.	.	.	X	4081;4005;2587;393	.	ENSP00000262442:G4081X	G	+	1	0	DNAH9	11776191	1.000000	0.71417	0.963000	0.40424	0.099000	0.18886	7.732000	0.84908	2.633000	0.89246	0.655000	0.94253	GGA	DNAH9	-	pfam_Dynein_heavy_dom		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11835466	1	no_errors	ENST00000262442	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	11835466	G	T	11835466	4	4	161	1	0	0	0	0	0	1	0	0	4618	1349	47	4	12495	4	DNAH9	17	11835466	Nonsense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	1481672	11835466	69359744	87	30606										
RNF213	57674	genome.wustl.edu	37	chr17	78360193	78360193	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ttcgcctacacaatgaaattGtctacgccgtggaaaaactc	7	11	1	1	rs534338467	byFrequency	TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr17:78360193G>T	ENST00000582970.1	+	62	14826	c.14683G>T	c.(14683-14685)Gtc>Ttc	p.V4895F	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.V2968F|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V4944F|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4895					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAATGAAATTGTCTACGCCGT	0.562																																																	0													96	88	91					17																	78360193		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14683G>T	17.37:g.78360193G>T	ENSP00000464087:p.Val4895Phe		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.V4895F	ENST00000582970.1	37	c.14683	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425505	0.43020	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.30182	1.54	5.18	-0.478	0.12093	.	0.561167	0.17558	N	0.169935	T	0.45236	0.1332	M	0.74881	2.28	0.19775	N	0.999953	D	0.71674	0.998	D	0.63283	0.913	T	0.30679	-0.9970	10	0.72032	D	0.01	.	6.308	0.21149	0.2626:0.2202:0.5172:0.0	.	2968	Q63HN8	RN213_HUMAN	F	4895;4944;2968;245	ENSP00000338218:V2968F	ENSP00000338218:V2968F	V	+	1	0	RNF213	75974788	0.074000	0.21230	0.000000	0.03702	0.331000	0.28603	0.375000	0.20518	-0.284000	0.09102	0.555000	0.69702	GTC	RNF213	-	NULL		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78360193	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.055	T	T	78360193	G	T	78360193	3	4	161	1	0	0	0	0	1	0	0	0	13507	1377	48	4	15244	4	RNF213	17	78360193	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	66524727	78360193	2835017	88	30607										
SHC2	25759	genome.wustl.edu	37	chr19	434715	434715	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gggcagaggctgacctggtcGagggccgtgagggcgcaggg	22	9	0	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:434715G>T	ENST00000264554.6	-	8	1103	c.1104C>A	c.(1102-1104)ctC>ctA	p.L368L		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	368	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCTGGTCGAGGGCCGTGA	0.657																																																	0													21	28	25					19																	434715		2003	4159	6162	SO:0001819	synonymous_variant	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1104C>A	19.37:g.434715G>T			O60230|Q9NPL5|Q9UCX4	Silent	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.L368	ENST00000264554.6	37	c.1104	CCDS45891.1	19																																																																																			SHC2	-	NULL		0.657	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	G			434715	-1	no_errors	ENST00000264554	ensembl	human	known	70_37	silent	SNP	0.988	T	T	434715	G	T	434715	2	4	161	1	0	0	0	0	0	0	0	1	14301	1045	37	3		3	SHC2	19	434715	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		434715	58694268	89	30608										
HMHA1	23526	genome.wustl.edu	37	chr19	1073273	1073273	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cgctcaccgcagccggcaccCtcattgccaaggtcaaaggt	10	16	3	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:1073273C>G	ENST00000313093.2	+	3	778	c.547C>G	c.(547-549)Ctc>Gtc	p.L183V	HMHA1_ENST00000543365.1_Missense_Mutation_p.L66V|HMHA1_ENST00000539243.2_Missense_Mutation_p.L199V|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000536472.1_Missense_Mutation_p.L23V|HMHA1_ENST00000586866.1_Missense_Mutation_p.L187V|HMHA1_ENST00000590214.1_Missense_Mutation_p.L210V	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	183					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGGCACCCTCATTGCCAA	0.602																																																	0													56	53	54					19																	1073273		2202	4300	6502	SO:0001583	missense	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.547C>G	19.37:g.1073273C>G	ENSP00000316772:p.Leu183Val		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L183V	ENST00000313093.2	37	c.547	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371504	0.61624	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.35421	1.57;1.56;1.51;1.31	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000001	T	0.50480	0.1618	L	0.42245	1.32	0.53688	D	0.999973	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.959;0.996;0.972	T	0.44267	-0.9339	10	0.32370	T	0.25	-27.5358	15.0034	0.71492	0.0:1.0:0.0:0.0	.	23;199;66;183	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	V	199;183;183;23;177;66	ENSP00000439601:L199V;ENSP00000316772:L183V;ENSP00000445109:L23V;ENSP00000438979:L66V	ENSP00000316772:L183V	L	+	1	0	HMHA1	1024273	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.543000	0.67225	1.855000	0.53841	0.491000	0.48974	CTC	HMHA1	-	NULL		0.602	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	C			1073273	1	no_errors	ENST00000313093	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1073273	C	G	1073273	3	3	161	1	0	0	0	0	1	0	0	0	7260	681	24	4	557	4	HMHA1	19	1073273	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	638558	1073273	58055710	90	30609										
DOT1L	84444	genome.wustl.edu	37	chr19	2217769	2217769	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ggggtcgggccttcgtctgcAgggcctgagagagcgcgcct	18	12	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:2217769A>G	ENST00000398665.3	+	22	2580		c.e22-1		AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase						histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCGTCTGCAGGGCCTGAGA	0.672																																																	0													11	15	14					19																	2217769		2085	4215	6300	SO:0001630	splice_region_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2545-1A>G	19.37:g.2217769A>G			O60379|Q96JL1	Splice_Site	SNP	-	e22-2	ENST00000398665.3	37	c.2545-2	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	A	10.94	1.491581	0.26774	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000440640	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8186	0.57679	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOT1L	2168769	1.000000	0.71417	0.933000	0.37362	0.018000	0.09664	6.416000	0.73332	1.964000	0.57103	0.334000	0.21626	.	DOT1L	-	-		0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	A	NM_032482	Intron	2217769	1	no_errors	ENST00000398665	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	2217769	A	G	2217769	5	3	161	1	0	0	0	0	0	0	1	0	4719	202	7	5	2629	5	DOT1L	19	2217769	Splice_Site	SNP	A	TCGA-JW-A69B-01A-11D-A32I-09	1144496	2217769	56911214	91	30610										
C3	718	genome.wustl.edu	37	chr19	6696657	6696657	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cagccacagttttgttcattCtgattccttccggctacgca	7	13	2	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:6696657C>A	ENST00000245907.6	-	22	2902	c.2810G>T	c.(2809-2811)aGa>aTa	p.R937I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	937					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TTTGTTCATTCTGATTCCTTC	0.582																																																	0													161	153	156					19																	6696657		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2810G>T	19.37:g.6696657C>A	ENSP00000245907:p.Arg937Ile		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.R937I	ENST00000245907.6	37	c.2810	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167143	0.21621	.	.	ENSG00000125730	ENST00000245907	T	0.35421	1.31	5.76	0.579	0.17397	.	0.351090	0.29080	N	0.013206	T	0.28566	0.0707	M	0.74881	2.28	0.09310	N	1	P	0.38504	0.634	B	0.34779	0.189	T	0.11891	-1.0569	10	0.33141	T	0.24	.	2.7367	0.05242	0.1414:0.5192:0.1586:0.1808	.	937	P01024	CO3_HUMAN	I	937	ENSP00000245907:R937I	ENSP00000245907:R937I	R	-	2	0	C3	6647657	0.016000	0.18221	0.005000	0.12908	0.157000	0.22087	0.971000	0.29396	0.349000	0.23975	-0.236000	0.12185	AGA	C3	-	NULL		0.582	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6696657	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.000	A	A	6696657	C	A	6696657	3	1	161	1	0	0	0	0	1	0	0	0	2209	913	32	3	2261	3	C3	19	6696657	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	4478888	6696657	52432326	92	30611										
RASAL3	64926	genome.wustl.edu	37	chr19	15575085	15575085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	agccgccttctccccaccgcCccctgtgtgccagcggtagg	11	19	1	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:15575085C>T	ENST00000343625.7	-	2	170	c.85G>A	c.(85-87)Ggc>Agc	p.G29S		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	29	Poly-Gly.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TCCCCACCGCCCCCTGTGTGC	0.711																																																	0													25	30	28					19																	15575085		1938	4150	6088	SO:0001583	missense	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.85G>A	19.37:g.15575085C>T	ENSP00000341905:p.Gly29Ser		Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.G29S	ENST00000343625.7	37	c.85	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	C	5.297	0.240126	0.10023	.	.	ENSG00000105122	ENST00000343625	T	0.23552	1.9	4.11	0.389	0.16269	.	.	.	.	.	T	0.20861	0.0502	L	0.57536	1.79	0.09310	N	1	B	0.26081	0.141	B	0.22152	0.038	T	0.23762	-1.0179	9	0.37606	T	0.19	.	4.0874	0.09953	0.156:0.5774:0.1561:0.1105	.	29	Q86YV0	RASL3_HUMAN	S	29	ENSP00000341905:G29S	ENSP00000341905:G29S	G	-	1	0	RASAL3	15436085	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.429000	0.06982	-0.167000	0.10871	-1.943000	0.00494	GGC	RASAL3	-	NULL		0.711	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	C	NM_022904		15575085	-1	no_errors	ENST00000343625	ensembl	human	known	70_37	missense	SNP	0.000	T	T	15575085	C	T	15575085	3	4	161	1	0	0	0	0	1	0	0	0	13095	623	22	4	3018	4	RASAL3	19	15575085	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	8878428	15575085	43553898	93	30612										
MYO9B	4650	genome.wustl.edu	37	chr19	17323012	17323012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	cagacctgccagtgcagggcGccctggagcccctagaagag	14	14	0	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:17323012G>A	ENST00000594824.1	+	40	6514	c.6367G>A	c.(6367-6369)Gcc>Acc	p.A2123T	MYO9B_ENST00000595618.1_3'UTR|MYO9B_ENST00000397274.2_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2123	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGTGCAGGGCGCCCTGGAGCC	0.716																																																	0													6	8	7					19																	17323012		1856	4020	5876	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.6367G>A	19.37:g.17323012G>A	ENSP00000471367:p.Ala2123Thr		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.A2123T	ENST00000594824.1	37	c.6367		19	.	.	.	.	.	.	.	.	.	.	G	2.308	-0.358588	0.05138	.	.	ENSG00000099331	ENST00000319396	.	.	.	3.55	-5.18	0.02840	.	1.261840	0.05889	N	0.627985	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15235	-1.0444	9	0.21540	T	0.41	.	0.9937	0.01462	0.3261:0.2682:0.2676:0.1381	.	2123	Q13459	MYO9B_HUMAN	T	468	.	ENSP00000314032:A468T	A	+	1	0	MYO9B	17184012	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.149000	0.16243	-0.915000	0.03823	-0.320000	0.08662	GCC	MYO9B	-	NULL		0.716	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	G			17323012	1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	0.000	A	A	17323012	G	A	17323012	3	1	161	1	0	0	0	0	1	0	0	0	10108	1087	38	2	6532	2	MYO9B	19	17323012	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	1747927	17323012	41805971	94	30613										
IGFL3	388555	genome.wustl.edu	37	chr19	46627378	46627378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gttcccacacctgggtgtcgGctggcacagccacagtcctg	12	15	0	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:46627378G>A	ENST00000341415.2	-	3	139	c.115C>T	c.(115-117)Ccg>Tcg	p.P39S	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	39						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CTGGGTGTCGGCTGGCACAGC	0.527																																																	0													68	72	70					19																	46627378		2186	4300	6486	SO:0001583	missense	388555			AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.115C>T	19.37:g.46627378G>A	ENSP00000344860:p.Pro39Ser			Missense_Mutation	SNP	NULL	p.P39S	ENST00000341415.2	37	c.115	CCDS33058.1	19	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251435	0.22880	.	.	ENSG00000188624	ENST00000341415	T	0.21031	2.03	0.983	-0.14	0.13456	.	.	.	.	.	T	0.22820	0.0551	L	0.38175	1.15	0.09310	N	1	D	0.56287	0.975	P	0.56343	0.796	T	0.12041	-1.0563	9	0.42905	T	0.14	-11.7063	3.2627	0.06854	0.3137:0.0:0.6863:0.0	.	39	Q6UXB1	IGFL3_HUMAN	S	39	ENSP00000344860:P39S	ENSP00000344860:P39S	P	-	1	0	IGFL3	51319218	0.034000	0.19679	0.196000	0.23383	0.083000	0.17756	0.096000	0.15147	-0.018000	0.14079	0.411000	0.27672	CCG	IGFL3	-	NULL		0.527	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFL3	HGNC	protein_coding	OTTHUMT00000421323.1	G	NM_207393		46627378	-1	no_errors	ENST00000341415	ensembl	human	known	70_37	missense	SNP	0.231	A	A	46627378	G	A	46627378	3	1	161	1	0	0	0	0	1	0	0	0	7608	1203	42	4	270	4	IGFL3	19	46627378	Missense_Mutation	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	29304366	46627378	12501605	95	30614										
KCNC3	3748	genome.wustl.edu	37	chr19	50832047	50832047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tcgagcggtacgtctcatggCgcacgccgcccacgttgatc	12	15	1	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr19:50832047C>T	ENST00000477616.1	-	1	587	c.293G>A	c.(292-294)cGc>cAc	p.R98H	NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.R98H	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	98					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CGTCTCATGGCGCACGCCGCC	0.776																																					Melanoma(91;1496 2324 50908)												0													5	6	6					19																	50832047		2011	4000	6011	SO:0001583	missense	3748			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.293G>A	19.37:g.50832047C>T	ENSP00000434241:p.Arg98His			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.R98H	ENST00000477616.1	37	c.293	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	c	27.7	4.852888	0.91355	.	.	ENSG00000131398	ENST00000376959;ENST00000477616	T;T	0.78816	-1.21;-1.21	2.31	2.31	0.28768	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.56097	U	0.000040	D	0.86272	0.5893	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87120	0.2190	10	0.87932	D	0	.	10.3868	0.44145	0.0:1.0:0.0:0.0	.	98	Q14003	KCNC3_HUMAN	H	98	ENSP00000366158:R98H;ENSP00000434241:R98H	ENSP00000366158:R98H	R	-	2	0	KCNC3	55523859	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.538000	0.73852	1.327000	0.45338	0.177000	0.17058	CGC	KCNC3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.776	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	C	NM_004977		50832047	-1	no_errors	ENST00000477616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50832047	C	T	50832047	3	4	161	1	0	0	0	0	1	0	0	0	8036	768	27	2	1996	2	KCNC3	19	50832047	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	4204669	50832047	8296936	96	30615										
B3GALT5	10317	genome.wustl.edu	37	chr21	41032526	41032526	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gattgatgtatatttgccttCtggttctgggggctctttgt	12	6	3	1			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr21:41032526C>A	ENST00000380620.4	+	5	632	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	B3GALT5_ENST00000343118.4_Missense_Mutation_p.L14M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.L14M|B3GALT5_ENST00000380618.1_Missense_Mutation_p.L14M|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	14					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TATTTGCCTTCTGGTTCTGGG	0.383																																																	0													174	171	172					21																	41032526		2203	4300	6503	SO:0001583	missense	10317			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.40C>A	21.37:g.41032526C>A	ENSP00000369994:p.Leu14Met		A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.L14M	ENST00000380620.4	37	c.40	CCDS13667.1	21	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609427	0.28623	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.75	-0.981	0.10269	.	0.585786	0.16078	N	0.230648	T	0.48223	0.1488	L	0.47716	1.5	0.09310	N	1	B	0.26195	0.144	B	0.15870	0.014	T	0.37865	-0.9687	10	0.51188	T	0.08	.	1.1995	0.01882	0.4102:0.1691:0.252:0.1687	.	14	Q9Y2C3	B3GT5_HUMAN	M	14	ENSP00000369994:L14M;ENSP00000369992:L14M;ENSP00000343318:L14M;ENSP00000381699:L14M	ENSP00000343318:L14M	L	+	1	2	B3GALT5	39954396	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.149000	0.10204	0.082000	0.17018	0.655000	0.94253	CTG	B3GALT5	-	NULL		0.383	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT5	HGNC	protein_coding	OTTHUMT00000195008.2	C	NM_033170		41032526	1	no_errors	ENST00000343118	ensembl	human	known	70_37	missense	SNP	0.000	A	A	41032526	C	A	41032526	3	1	161	1	0	0	0	0	1	0	0	0	1251	912	32	3	42	3	B3GALT5	21	41032526	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09		41032526	7097369	97	30616										
COL18A1	80781	genome.wustl.edu	37	chr21	46888226	46888226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ccccagcaggtcacccagacGgatgaccccgacgtcgggct	12	17	1	2			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr21:46888226G>A	ENST00000359759.4	+	2	1443	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	COL18A1_ENST00000400337.2_Silent_p.T59T|COL18A1_ENST00000355480.5_Silent_p.T239T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	474	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCACCCAGACGGATGACCCCG	0.637																																																	0													44	53	50					21																	46888226		1990	4157	6147	SO:0001819	synonymous_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1422G>A	21.37:g.46888226G>A			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.T474	ENST00000359759.4	37	c.1422		21																																																																																			COL18A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.637	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46888226	1	no_errors	ENST00000359759	ensembl	human	known	70_37	silent	SNP	0.000	A	A	46888226	G	A	46888226	2	1	161	1	0	0	0	0	0	0	0	1	3680	1103	39	2		2	COL18A1	21	46888226	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09	5855700	46888226	1241669	98	30617										
TOP3B	8940	genome.wustl.edu	37	chr22	22324757	22324757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	accatgggccttgttcatgaCgggcagaacagcatcaagaa	11	10	2	3			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr22:22324757C>T	ENST00000398793.2	-	6	840	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.V136I	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	136	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTGTTCATGACGGGCAGAACA	0.607																																																	0													67	57	60					22																	22324757		2203	4300	6503	SO:0001583	missense	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.406G>A	22.37:g.22324757C>T	ENSP00000381773:p.Val136Ile		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.V136I	ENST00000398793.2	37	c.406	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229377	0.39399	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.22743	1.94;1.94;1.94	4.87	3.85	0.44370	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);	0.129763	0.52532	N	0.000074	T	0.22627	0.0546	M	0.74467	2.265	0.80722	D	1	B	0.19200	0.034	B	0.16289	0.015	T	0.04767	-1.0928	10	0.16420	T	0.52	.	10.6385	0.45579	0.0:0.845:0.0:0.155	.	136	O95985	TOP3B_HUMAN	I	136	ENSP00000349705:V136I;ENSP00000381773:V136I;ENSP00000390977:V136I	ENSP00000349705:V136I	V	-	1	0	TOP3B	20654757	1.000000	0.71417	0.900000	0.35374	0.684000	0.39900	4.799000	0.62517	1.290000	0.44636	0.561000	0.74099	GTC	TOP3B	-	pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain		0.607	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	C	NM_003935		22324757	-1	no_errors	ENST00000357179	ensembl	human	known	70_37	missense	SNP	0.997	T	T	22324757	C	T	22324757	3	4	161	1	0	0	0	0	1	0	0	0	16399	536	19	2	2234	2	TOP3B	22	22324757	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09		22324757	28979809	99	30618										
L3MBTL2	83746	genome.wustl.edu	37	chr22	41621884	41621884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	ttctgctaccatgcctcttcCcacgccatcttcccggccac	5	20	3	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chr22:41621884C>T	ENST00000216237.5	+	12	1601	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	481					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGCCTCTTCCCACGCCATCT	0.582																																																	0													118	83	95					22																	41621884		2203	4300	6503	SO:0001819	synonymous_variant	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1443C>T	22.37:g.41621884C>T			Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.S481	ENST00000216237.5	37	c.1443	CCDS14011.1	22																																																																																			L3MBTL2	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.582	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	C	NM_031488		41621884	1	no_errors	ENST00000216237	ensembl	human	known	70_37	silent	SNP	0.998	T	T	41621884	C	T	41621884	2	4	161	1	0	0	0	0	0	0	0	1	8612	610	22	4		4	L3MBTL2	22	41621884	Silent	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	19297127	41621884	9682682	100	30619										
CCNB3	85417	genome.wustl.edu	37	chrX	50051745	50051745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	gaggtgtccttactggaaaaGctacagcccctgcaggagga	13	10	0	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chrX:50051745G>A	ENST00000376042.1	+	6	874	c.576G>A	c.(574-576)aaG>aaA	p.K192K	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.K192K|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	192					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TACTGGAAAAGCTACAGCCCC	0.413																																																	0													69	63	65					X																	50051745		2203	4300	6503	SO:0001819	synonymous_variant	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.576G>A	X.37:g.50051745G>A			B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.K192	ENST00000376042.1	37	c.576	CCDS14331.1	X																																																																																			CCNB3	-	NULL		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	G			50051745	1	no_errors	ENST00000276014	ensembl	human	known	70_37	silent	SNP	0.002	A	A	50051745	G	A	50051745	2	1	161	1	0	0	0	0	0	0	0	1	2919	962	34	4		4	CCNB3	23	50051745	Silent	SNP	G	TCGA-JW-A69B-01A-11D-A32I-09		50051745	105218815	101	30620										
MUM1L1	139221	genome.wustl.edu	37	chrX	105450199	105450199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	aaagctttgaaagaagagagCgaggatacctgcctagagac	12	7	0	4	rs376673069		TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chrX:105450199C>T	ENST00000357175.2	+	4	1423	c.774C>T	c.(772-774)agC>agT	p.S258S	MUM1L1_ENST00000372552.1_Silent_p.S258S|MUM1L1_ENST00000337685.2_Silent_p.S258S	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	258						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGAAGAGAGCGAGGATACCT	0.453																																																	0								C	,	1,3251		0,0,1,1341,569	61	53	55		774,774	-1.2	0	X		55	0,6438		0,0,0,2327,1784	no	coding-synonymous,coding-synonymous	MUM1L1	NM_001171020.1,NM_152423.4	,	0,0,1,3668,2353	TT,TC,T,CC,C		0.0,0.0308,0.0103	,	258/697,258/697	105450199	1,9689	1911	4111	6022	SO:0001819	synonymous_variant	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.774C>T	X.37:g.105450199C>T			D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.S258	ENST00000357175.2	37	c.774	CCDS55469.1	X																																																																																			MUM1L1	-	NULL		0.453	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	C	NM_152423		105450199	1	no_errors	ENST00000337685	ensembl	human	known	70_37	silent	SNP	0.000	T	T	105450199	C	T	105450199	2	4	161	1	0	0	0	0	0	0	0	1	10009	767	27	2		2	MUM1L1	23	105450199	Silent	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	55398454	105450199	49820361	102	30621										
PNMA3	29944	genome.wustl.edu	37	chrX	152226470	152226470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0679611650485437	7	0.614278273150946	1.0287631831256	4.80089485458613	0.782754595856434	0.39438882709183	0.637595270465125	0	tctggaggggctggaagtagCcccaaggccacctgccagga	15	12	1	0			TCGA-JW-A69B-01A-11D-A32I-09	TCGA-JW-A69B-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8f6180ec-2423-415c-ab25-7a8ee6ac5176	3ff4c312-9503-4618-ad53-f68e8241be5c	g.chrX:152226470C>T	ENST00000370264.4	+	1	1084	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	PNMA3_ENST00000370265.4_Missense_Mutation_p.A353V|PNMA3_ENST00000447306.1_Missense_Mutation_p.A353V			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	353					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAAGTAGCCCCAAGGCCA	0.627																																																	0													26	29	28					X																	152226470		2203	4300	6503	SO:0001583	missense	29944			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1058C>T	X.37:g.152226470C>T	ENSP00000359286:p.Ala353Val		D3DWT7|Q9H0A4	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.A353V	ENST00000370264.4	37	c.1058	CCDS35435.2	X	.	.	.	.	.	.	.	.	.	.	c	4.127	0.021769	0.08006	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.16073	2.37;2.41;2.41	1.86	-1.24	0.09435	.	.	.	.	.	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.14023	0.01	T	0.35425	-0.9789	9	0.29301	T	0.29	.	2.8778	0.05638	0.3772:0.2628:0.36:0.0	.	353	Q9UL41	PNMA3_HUMAN	V	353	ENSP00000359288:A353V;ENSP00000407642:A353V;ENSP00000359286:A353V	ENSP00000359286:A353V	A	+	2	0	PNMA3	151977126	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.147000	0.10234	-0.532000	0.06332	-0.554000	0.04202	GCC	PNMA3	-	NULL		0.627	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	HGNC	protein_coding	OTTHUMT00000060946.2	C	NM_013364		152226470	1	no_errors	ENST00000370264	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152226470	C	T	152226470	3	4	161	1	0	0	0	0	1	0	0	0	12179	739	26	4	1060	4	PNMA3	23	152226470	Missense_Mutation	SNP	C	TCGA-JW-A69B-01A-11D-A32I-09	46776271	152226470	3044090	103	30622										
ZC3H12A	80149	genome.wustl.edu	37	chr1	37947261	37947261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tggtgttcacaccatcacgaCgcgtgggtggcaagcgggtg	16	10	2	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:37947261C>T	ENST00000373087.6	+	4	759	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCATCACGACGCGTGGGTGG	0.582																																																	0													255	226	236					1																	37947261		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.643C>T	1.37:g.37947261C>T	ENSP00000362179:p.Arg215Cys			Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.R215C	ENST00000373087.6	37	c.643	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471375	0.84533	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44083	0.93	5.65	4.74	0.60224	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74222	-0.3735	10	0.72032	D	0.01	-19.3379	16.0235	0.80516	0.1354:0.8646:0.0:0.0	.	215	Q5D1E8	ZC12A_HUMAN	C	215	ENSP00000362179:R215C	ENSP00000362174:R215C	R	+	1	0	ZC3H12A	37719848	1.000000	0.71417	0.503000	0.27626	0.825000	0.46686	2.645000	0.46621	1.358000	0.45922	0.655000	0.94253	CGC	ZC3H12A	-	pfam_RNase_Zc3h12		0.582	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	C	NM_025079		37947261	1	no_errors	ENST00000373082	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37947261	C	T	37947261	3	4	162	1	0	0	0	0	1	0	0	0	17591	536	19	2	653	2	ZC3H12A	1	37947261	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09		37947261	211303360	1	30623										
BARHL2	343472	genome.wustl.edu	37	chr1	91182608	91182608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aatctccgaacagggagatgGggtggcctgactcctaaaat	12	9	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:91182608G>C	ENST00000370445.4	-	1	186	c.145C>G	c.(145-147)Cca>Gca	p.P49A		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	49					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAGGGAGATGGGGTGGCCTGA	0.597																																					GBM(199;3561 4100 22440)												0													82	90	87					1																	91182608		2203	4300	6503	SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.145C>G	1.37:g.91182608G>C	ENSP00000359474:p.Pro49Ala		A0AVP2|Q7Z4N7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.P49A	ENST00000370445.4	37	c.145	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989478	0.74589	.	.	ENSG00000143032	ENST00000370445	D	0.91295	-2.82	5.92	5.92	0.95590	.	0.159498	0.56097	D	0.000026	T	0.70780	0.3263	N	0.04508	-0.205	0.39819	D	0.972805	B	0.25667	0.131	B	0.19148	0.024	T	0.69335	-0.5172	10	0.21014	T	0.42	.	17.8151	0.88630	0.0:0.0:1.0:0.0	.	49	Q9NY43	BARH2_HUMAN	A	49	ENSP00000359474:P49A	ENSP00000359474:P49A	P	-	1	0	BARHL2	90955196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.647000	0.74354	2.810000	0.96702	0.650000	0.86243	CCA	BARHL2	-	NULL		0.597	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	G			91182608	-1	no_errors	ENST00000370445	ensembl	human	known	70_37	missense	SNP	1.000	C	C	91182608	G	C	91182608	3	2	162	1	0	0	0	0	1	0	0	0	1315	1232	43	4	1030	4	BARHL2	1	91182608	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	53235347	91182608	158068013	2	30624										
AMY2B	280	genome.wustl.edu	37	chr1	104115771	104115771	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	agtacctgtggaagttacttCaaccctggaagtagggactt	11	8	1	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:104115771C>T	ENST00000361355.4	+	5	1018	c.402C>T	c.(400-402)ttC>ttT	p.F134F	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	134					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAAGTTACTTCAACCCTGGAA	0.403																																																	0													251	267	261					1																	104115771		2202	4284	6486	SO:0001819	synonymous_variant	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.402C>T	1.37:g.104115771C>T			B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.F134	ENST00000361355.4	37	c.402	CCDS782.1	1																																																																																			AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.403	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	C	NM_020978		104115771	1	no_errors	ENST00000361355	ensembl	human	known	70_37	silent	SNP	1.000	T	T	104115771	C	T	104115771	2	4	162	1	0	0	0	0	0	0	0	1	595	825	29	1		1	AMY2B	1	104115771	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	12933163	104115771	145134850	3	30625										
SNX27	81609	genome.wustl.edu	37	chr1	151611373	151611373	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tttccccttaggaaccacgtGaatgttgagggggcgacaca	12	10	0	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:151611373G>C	ENST00000458013.2	+	2	441	c.321G>C	c.(319-321)gtG>gtC	p.V107V	SNX27_ENST00000368843.3_Silent_p.V107V|SNX27_ENST00000368838.1_Silent_p.V14V			Q96L92	SNX27_HUMAN	sorting nexin family member 27	107	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAACCACGTGAATGTTGAGG	0.507																																					Colon(46;291 966 40145 41237 41888)												0													104	90	95					1																	151611373		2203	4300	6503	SO:0001819	synonymous_variant	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.321G>C	1.37:g.151611373G>C			Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	NULL	p.E64Q	ENST00000458013.2	37	c.190		1																																																																																			SNX27	-	NULL		0.507	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	G	NM_030918		151611373	1	no_errors	ENST00000368841	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151611373	G	C	151611373	2	2	162	1	0	0	0	0	0	0	0	1	14927	1277	45	1		1	SNX27	1	151611373	Silent	SNP	G	TCGA-JW-A852-01A-11D-A351-09	47495602	151611373	97639248	4	30626										
SNX27	81609	genome.wustl.edu	37	chr1	151611518	151611518	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	cgttgggacaatcattttatGattacacagaaaagcaagca	8	7	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:151611518G>A	ENST00000458013.2	+	2	586	c.466G>A	c.(466-468)Gat>Aat	p.D156N	SNX27_ENST00000368843.3_Missense_Mutation_p.D156N|SNX27_ENST00000368838.1_Missense_Mutation_p.D63N			Q96L92	SNX27_HUMAN	sorting nexin family member 27	156					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCATTTTATGATTACACAGA	0.468																																					Colon(46;291 966 40145 41237 41888)												0													114	104	107					1																	151611518		2203	4300	6503	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.466G>A	1.37:g.151611518G>A	ENSP00000400333:p.Asp156Asn		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.D156N	ENST00000458013.2	37	c.466		1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900398	0.92035	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.28895	1.59;1.59;1.59	4.66	4.66	0.58398	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.76838	2.35	0.80722	D	1	P;D	0.69078	0.952;0.997	P;P	0.61874	0.614;0.895	T	0.48758	-0.9007	10	0.52906	T	0.07	.	16.2632	0.82562	0.0:0.0:1.0:0.0	.	156;156	Q96L92;Q96L92-3	SNX27_HUMAN;.	N	156;156;63	ENSP00000400333:D156N;ENSP00000357836:D156N;ENSP00000357831:D63N	ENSP00000357831:D63N	D	+	1	0	SNX27	149878142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.235000	0.95353	2.414000	0.81942	0.591000	0.81541	GAT	SNX27	-	superfamily_Phox,smart_Phox		0.468	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	G	NM_030918		151611518	1	no_errors	ENST00000368843	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151611518	G	A	151611518	3	1	162	1	0	0	0	0	1	0	0	0	14927	1290	45	1	472	1	SNX27	1	151611518	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	145	151611518	97639103	5	30627										
RNPEP	6051	genome.wustl.edu	37	chr1	201966484	201966484	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tgccaccgtcctttccatttGgaggaatggagaacccttgt	10	11	0	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr1:201966484G>C	ENST00000295640.4	+	5	935	c.892G>C	c.(892-894)Gga>Cga	p.G298R	RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.G259R|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	298	Substrate binding. {ECO:0000250}.				leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTTTCCATTTGGAGGAATGGA	0.582																																					GBM(19;39 479 7473 13131 19462)												0													120	115	117					1																	201966484		2203	4300	6503	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.892G>C	1.37:g.201966484G>C	ENSP00000295640:p.Gly298Arg		Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.G298R	ENST00000295640.4	37	c.892	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828826	0.90955	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312;ENST00000449524	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	5.1	5.1	0.69264	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.42765	0.1217	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60581	-0.7235	10	0.72032	D	0.01	-11.5689	17.2948	0.87168	0.0:0.0:1.0:0.0	.	306;298	Q7RU04;Q9H4A4	.;AMPB_HUMAN	R	298;259;167;44	ENSP00000295640:G298R;ENSP00000356255:G259R;ENSP00000389602:G167R;ENSP00000407614:G44R	ENSP00000295640:G298R	G	+	1	0	RNPEP	200233107	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	7.546000	0.82137	2.361000	0.80049	0.643000	0.83706	GGA	RNPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N		0.582	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1	G	NM_020216		201966484	1	no_errors	ENST00000295640	ensembl	human	known	70_37	missense	SNP	1.000	C	C	201966484	G	C	201966484	3	2	162	1	0	0	0	0	1	0	0	0	13539	1349	47	4	910	4	RNPEP	1	201966484	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	50354966	201966484	47284137	6	30628										
COLEC11	78989	genome.wustl.edu	37	chr2	3691678	3691678	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tgccacaccaccatgtacttCatgtgtgagtttgacaagga	9	10	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:3691678C>T	ENST00000349077.4	+	7	889	c.786C>T	c.(784-786)ttC>ttT	p.F262F	COLEC11_ENST00000236693.7_Silent_p.F259F|COLEC11_ENST00000404205.1_Silent_p.F188F|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.F276F|COLEC11_ENST00000403096.3_Silent_p.F236F|COLEC11_ENST00000382062.2_Silent_p.F238F|COLEC11_ENST00000402922.1_Silent_p.F212F|COLEC11_ENST00000402794.1_Silent_p.F212F	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	262	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCATGTACTTCATGTGTGAGT	0.627																																																	0													55	56	56					2																	3691678		2203	4300	6503	SO:0001819	synonymous_variant	78989			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"Collectins"	17213	protein-coding gene	gene with protein product	"Collectin K1"	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.786C>T	2.37:g.3691678C>T			A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.F276	ENST00000349077.4	37	c.828	CCDS1649.1	2																																																																																			COLEC11	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.627	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC11	HGNC	protein_coding	OTTHUMT00000206666.1	C	NM_024027		3691678	1	no_errors	ENST00000418971	ensembl	human	known	70_37	silent	SNP	0.997	T	T	3691678	C	T	3691678	2	4	162	1	0	0	0	0	0	0	0	1	3716	825	29	1		1	COLEC11	2	3691678	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09		3691678	239507695	7	30629										
REL	5966	genome.wustl.edu	37	chr2	61147541	61147541	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aaacagggtttcgccatgttGaccaggatggtcttgaactc	11	9	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:61147541G>A	ENST00000295025.8	+	9	1266	c.946G>A	c.(946-948)Gac>Aac	p.D316N	REL_ENST00000394479.3_Intron	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	316					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			tcgccatgttgaccaggatgg	0.537			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													2	2	2					2																	61147541		335	456	791	SO:0001583	missense	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.946G>A	2.37:g.61147541G>A	ENSP00000295025:p.Asp316Asn		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.D316N	ENST00000295025.8	37	c.946	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	0.701	-0.790881	0.02884	.	.	ENSG00000162924	ENST00000295025	T	0.02158	4.42	0.654	-1.1	0.09872	Immunoglobulin E-set (1);	0.675969	0.10034	U	0.724344	T	0.02012	0.0063	L	0.43152	1.355	0.09310	N	1	B	0.15473	0.013	B	0.04013	0.001	T	0.49214	-0.8963	9	0.16420	T	0.52	.	.	.	.	.	316	Q04864	REL_HUMAN	N	316	ENSP00000295025:D316N	ENSP00000295025:D316N	D	+	1	0	REL	61001045	0.007000	0.16637	0.005000	0.12908	0.021000	0.10359	-0.281000	0.08456	-0.423000	0.07394	0.305000	0.20034	GAC	REL	-	superfamily_Ig_E-set		0.537	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	G	NM_002908		61147541	1	no_errors	ENST00000295025	ensembl	human	known	70_37	missense	SNP	0.006	A	A	61147541	G	A	61147541	3	1	162	1	0	0	0	0	1	0	0	0	13245	1290	45	1	980	1	REL	2	61147541	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	57455863	61147541	182051832	8	30630										
ZNF638	27332	genome.wustl.edu	37	chr2	71653849	71653849	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	agctgcacatctagcacaagCtctagtcactgtggatgaag	10	10	3	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:71653849C>G	ENST00000409544.1	+	24	5480	c.4850C>G	c.(4849-4851)gCt>gGt	p.A1617G	ZNF638_ENST00000409407.1_Missense_Mutation_p.A557G|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1617G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1617					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTAGCACAAGCTCTAGTCACT	0.378																																																	0													89	85	86					2																	71653849		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4850C>G	2.37:g.71653849C>G	ENSP00000386433:p.Ala1617Gly		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.A1617G	ENST00000409544.1	37	c.4850	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711163	0.68730	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.38560	1.13;1.13;1.5	5.69	4.79	0.61399	.	0.258207	0.27572	N	0.018775	T	0.31918	0.0812	N	0.19112	0.55	0.80722	D	1	P;P	0.38827	0.649;0.518	B;B	0.41510	0.359;0.197	T	0.06023	-1.0850	10	0.26408	T	0.33	-3.1361	13.5644	0.61807	0.1567:0.8433:0.0:0.0	.	1617;1617	Q14966-3;Q14966	.;ZN638_HUMAN	G	1617;1617;557;557	ENSP00000264447:A1617G;ENSP00000386433:A1617G;ENSP00000386813:A557G	ENSP00000264447:A1617G	A	+	2	0	ZNF638	71507357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.251000	0.51453	1.345000	0.45676	0.650000	0.86243	GCT	ZNF638	-	NULL		0.378	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	C	NM_014497		71653849	1	no_errors	ENST00000264447	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71653849	C	G	71653849	3	3	162	1	0	0	0	0	1	0	0	0	18085	797	28	4	4940	4	ZNF638	2	71653849	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	10506308	71653849	171545524	9	30631										
ZAP70	7535	genome.wustl.edu	37	chr2	98351725	98351725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tcgggcaggaagcagatcgaCgtggccatcaaggtgctgaa	15	9	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:98351725C>T	ENST00000264972.5	+	10	1310	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	ZAP70_ENST00000442208.1_Silent_p.D239D|ZAP70_ENST00000451498.2_Silent_p.D58D|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	365	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGCAGATCGACGTGGCCATCA	0.667																																																	0													104	80	88					2																	98351725		2203	4300	6503	SO:0001819	synonymous_variant	7535			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1095C>T	2.37:g.98351725C>T			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.D365	ENST00000264972.5	37	c.1095	CCDS33254.1	2																																																																																			ZAP70	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_cat_dom		0.667	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	C			98351725	1	no_errors	ENST00000264972	ensembl	human	known	70_37	silent	SNP	0.720	T	T	98351725	C	T	98351725	2	4	162	1	0	0	0	0	0	0	0	1	17545	535	19	2		2	ZAP70	2	98351725	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	26697876	98351725	144847648	10	30632										
DPP10	57628	genome.wustl.edu	37	chr2	116257125	116257125	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aagcgagaatggacatgtcaTtaaactgaatatagaaacaa	8	5	1	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:116257125T>A	ENST00000410059.1	+	4	791	c.311T>A	c.(310-312)aTt>aAt	p.I104N	DPP10_ENST00000310323.8_Missense_Mutation_p.I97N|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.I108N|DPP10_ENST00000409163.1_Missense_Mutation_p.I54N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	104						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGACATGTCATTAAACTGAAT	0.284																																																	0													136	133	134					2																	116257125		2203	4299	6502	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.311T>A	2.37:g.116257125T>A	ENSP00000386565:p.Ile104Asn		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.I108N	ENST00000410059.1	37	c.323	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602975	0.66445	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.2	5.2	0.72013	.	0.242512	0.41001	D	0.000962	T	0.51261	0.1664	L	0.55481	1.735	0.31979	N	0.606154	P;P;P;P	0.44281	0.831;0.612;0.74;0.529	P;B;P;P	0.52267	0.694;0.259;0.498;0.498	T	0.63585	-0.6604	10	0.72032	D	0.01	-42.2693	12.9237	0.58247	0.0:0.0:0.0:1.0	.	97;108;100;104	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	54;104;54;100;108;97;54;54	ENSP00000391092:I54N;ENSP00000386565:I104N;ENSP00000387038:I54N;ENSP00000376854:I100N;ENSP00000376855:I108N;ENSP00000309066:I97N;ENSP00000402499:I54N	ENSP00000309066:I97N	I	+	2	0	DPP10	115973595	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.132000	0.64758	2.184000	0.69523	0.459000	0.35465	ATT	DPP10	-	NULL		0.284	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	T	NM_020868		116257125	1	no_errors	ENST00000393147	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116257125	T	A	116257125	3	1	162	1	0	0	0	0	1	0	0	0	4737	1493	52	5	496	5	DPP10	2	116257125	Missense_Mutation	SNP	T	TCGA-JW-A852-01A-11D-A351-09	17905400	116257125	126942248	11	30633										
NFE2L2	4780	genome.wustl.edu	37	chr2	178098944	178098944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gactgaagtcaaatacttctCgacttactccaagatctata	5	10	3	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:178098944C>T	ENST00000397062.3	-	2	655	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	12	Substitution - Missense(12)	lung(12)											77	70	72					2																	178098944		1847	4100	5947	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.101G>A	2.37:g.178098944C>T	ENSP00000380252:p.Arg34Gln		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.R34Q	ENST00000397062.3	37	c.101	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869837	0.91587	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.992;0.997;0.998	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	18;34;18;18;18;18;18	ENSP00000380253:R18Q;ENSP00000380252:R34Q;ENSP00000411575:R18Q;ENSP00000391590:R18Q;ENSP00000400073:R18Q;ENSP00000412191:R18Q;ENSP00000410015:R18Q	ENSP00000380252:R34Q	R	-	2	0	NFE2L2	177807190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CGA	NFE2L2	-	NULL		0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098944	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178098944	C	T	178098944	3	4	162	1	0	0	0	0	1	0	0	0	10392	884	31	1	1732	1	NFE2L2	2	178098944	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	61841819	178098944	65100429	12	30634										
TTN	7273	genome.wustl.edu	37	chr2	179594472	179594472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ataagtcccactattttctaCcctggcaccagaaatctgga	6	12	2	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:179594472C>T	ENST00000591111.1	-	61	17781	c.17557G>A	c.(17557-17559)Gta>Ata	p.V5853I	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V6170I|TTN_ENST00000342992.6_Missense_Mutation_p.V4926I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12652	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATTTTCTACCCTGGCACCA	0.443																																																	0													123	118	120					2																	179594472		1908	4136	6044	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17557G>A	2.37:g.179594472C>T	ENSP00000465570:p.Val5853Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V4926I	ENST00000591111.1	37	c.14776		2	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480787	0.26598	.	.	ENSG00000155657	ENST00000342992	T	0.70045	-0.45	6.17	2.89	0.33648	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50718	0.1632	N	0.25094	0.71	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49781	-0.8903	9	0.87932	D	0	.	9.9041	0.41366	0.0:0.636:0.0:0.364	.	5853	Q8WZ42	TITIN_HUMAN	I	4926	ENSP00000343764:V4926I	ENSP00000343764:V4926I	V	-	1	0	TTN	179302717	0.029000	0.19370	1.000000	0.80357	0.850000	0.48378	0.158000	0.16422	0.872000	0.35775	-0.345000	0.07892	GTA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179594472	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.992	T	T	179594472	C	T	179594472	3	4	162	1	0	0	0	0	1	0	0	0	16766	507	18	4	86221	4	TTN	2	179594472	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	1495528	179594472	63604901	13	30635										
UGT1A5	54579	genome.wustl.edu	37	chr2	234622208	234622208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gcacacagtgtccaaaccctTcctcctatattcctagatta	4	14	0	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr2:234622208T>C	ENST00000373414.3	+	1	571	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.S191P			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	191						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TCCAAACCCTTCCTCCTATAT	0.478																																																	0													192	182	185					2																	234622208		2203	4300	6503	SO:0001583	missense	54579			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.571T>C	2.37:g.234622208T>C	ENSP00000362513:p.Ser191Pro		B8K294	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S191P	ENST00000373414.3	37	c.571	CCDS33404.1	2	.	.	.	.	.	.	.	.	.	.	T	1.613	-0.523524	0.04141	.	.	ENSG00000240224	ENST00000373414	T	0.59224	0.28	4.88	1.09	0.20402	.	0.602426	0.18029	N	0.153961	T	0.17746	0.0426	N	0.00783	-1.19	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.007	T	0.33777	-0.9855	10	0.02654	T	1	.	4.6696	0.12682	0.0:0.3647:0.1672:0.468	.	191;191	Q5DSZ9;P35504	.;UD15_HUMAN	P	191	ENSP00000362513:S191P	ENSP00000362513:S191P	S	+	1	0	UGT1A5	234286947	0.000000	0.05858	0.002000	0.10522	0.271000	0.26615	-0.355000	0.07671	0.238000	0.21222	0.459000	0.35465	TCC	UGT1A5	-	pfam_UDP_glucos_trans		0.478	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	HGNC	protein_coding	OTTHUMT00000130985.1	T	NM_019078		234622208	1	no_errors	ENST00000373414	ensembl	human	known	70_37	missense	SNP	0.001	C	C	234622208	T	C	234622208	3	2	162	1	0	0	0	0	1	0	0	0	16979	1783	62	5	573	5	UGT1A5	2	234622208	Missense_Mutation	SNP	T	TCGA-JW-A852-01A-11D-A351-09	55027736	234622208	8577165	14	30636										
FANCD2	2177	genome.wustl.edu	37	chr3	10107104	10107104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gtctccgctgtgcctggctcCgtatttccggttactgagac	11	13	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:10107104C>T	ENST00000419585.1	+	24	2356	c.2195C>T	c.(2194-2196)cCg>cTg	p.P732L	FANCD2_ENST00000287647.3_Missense_Mutation_p.P732L|FANCD2_ENST00000383806.1_Missense_Mutation_p.P732L|FANCD2_ENST00000383807.1_Missense_Mutation_p.P732L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	732					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCCTGGCTCCGTATTTCCGG	0.443			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0													167	164	165					3																	10107104		2203	4300	6503	SO:0001583	missense	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2195C>T	3.37:g.10107104C>T	ENSP00000398754:p.Pro732Leu		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P732L	ENST00000419585.1	37	c.2195	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023383	0.93462	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.53	5.53	0.82687	.	0.151447	0.64402	D	0.000010	T	0.70307	0.3209	M	0.79805	2.47	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.74343	-0.3696	10	0.87932	D	0	.	17.0107	0.86405	0.0:1.0:0.0:0.0	.	732;732	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	732	ENSP00000287647:P732L;ENSP00000373318:P732L;ENSP00000373317:P732L;ENSP00000398754:P732L	ENSP00000287647:P732L	P	+	2	0	FANCD2	10082104	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	7.263000	0.78421	2.618000	0.88619	0.585000	0.79938	CCG	FANCD2	-	NULL		0.443	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	C			10107104	1	no_errors	ENST00000287647	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10107104	C	T	10107104	3	4	162	1	0	0	0	0	1	0	0	0	5683	652	23	2	2285	2	FANCD2	3	10107104	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09		10107104	187915326	15	30637										
DNAH1	25981	genome.wustl.edu	37	chr3	52417483	52417483	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	atctgtatactgcggacgagCaggaccagatcgtcagcacc	11	12	2	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:52417483C>T	ENST00000420323.2	+	51	8284	c.8023C>T	c.(8023-8025)Cag>Tag	p.Q2675*		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2675	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCGGACGAGCAGGACCAGAT	0.557																																																	0													78	79	78					3																	52417483		2036	4193	6229	SO:0001587	stop_gained	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8023C>T	3.37:g.52417483C>T	ENSP00000401514:p.Gln2675*		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.Q2675*	ENST00000420323.2	37	c.8023	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	C	48	14.307458	0.99789	.	.	ENSG00000114841	ENST00000420323	.	.	.	4.87	4.87	0.63330	.	0.133715	0.33959	N	0.004381	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	9.0323	0.36267	0.0:0.7721:0.149:0.0789	.	.	.	.	X	2675	.	ENSP00000401514:Q2675X	Q	+	1	0	DNAH1	52392523	0.998000	0.40836	1.000000	0.80357	0.203000	0.24098	1.394000	0.34509	2.524000	0.85096	0.655000	0.94253	CAG	DNAH1	-	NULL		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52417483	1	no_errors	ENST00000420323	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	52417483	C	T	52417483	4	4	162	1	0	0	0	0	0	1	0	0	4607	711	25	4	8221	4	DNAH1	3	52417483	Nonsense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	42310379	52417483	145604947	16	30638										
DRD3	1814	genome.wustl.edu	37	chr3	113866346	113866346	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gatcatgagggccacgcgccGacaggagctctgtcccgtgc	14	14	2	1	rs141573183		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:113866346G>T	ENST00000460779.1	-	5	731	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	DRD3_ENST00000295881.7_Silent_p.R148R|DRD3_ENST00000383673.2_Silent_p.R148R|DRD3_ENST00000467632.1_Silent_p.R148R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	148					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCACGCGCCGACAGGAGCTC	0.562																																																	0													118	101	107					3																	113866346		2203	4300	6503	SO:0001819	synonymous_variant	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.442C>A	3.37:g.113866346G>T			A1A4V5|Q4VBM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.R148	ENST00000460779.1	37	c.442	CCDS2978.1	3																																																																																			DRD3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt		0.562	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	HGNC	protein_coding	OTTHUMT00000354699.1	G	NM_000796.3		113866346	-1	no_errors	ENST00000383673	ensembl	human	known	70_37	silent	SNP	0.870	T	T	113866346	G	T	113866346	2	4	162	1	0	0	0	0	0	0	0	1	4768	1057	37	3		3	DRD3	3	113866346	Silent	SNP	G	TCGA-JW-A852-01A-11D-A351-09	61448863	113866346	84156084	17	30639										
SRPRB	58477	genome.wustl.edu	37	chr3	133525541	133525541	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tccgggaaaacgttgctcttTgtcagggtaaatgatttcat	10	7	3	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:133525541T>A	ENST00000466490.2	+	3	528	c.243T>A	c.(241-243)ttT>ttA	p.F81L		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	81					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CGTTGCTCTTTGTCAGGGTAA	0.403																																																	0													167	155	159					3																	133525541		2203	4300	6503	SO:0001583	missense	58477			AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.243T>A	3.37:g.133525541T>A	ENSP00000418401:p.Phe81Leu		Q6P595|Q8N2D8	Missense_Mutation	SNP	pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA	p.F81L	ENST00000466490.2	37	c.243	CCDS3081.1	3	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647232	0.87958	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.69806	2.51;-0.43	5.33	0.159	0.14968	.	0.071085	0.53938	N	0.000052	T	0.68081	0.2962	L	0.42581	1.335	0.58432	D	0.999991	D	0.71674	0.998	P	0.60012	0.867	T	0.64118	-0.6482	10	0.45353	T	0.12	-12.8606	10.4583	0.44563	0.0:0.4505:0.0:0.5495	.	81	Q9Y5M8	SRPRB_HUMAN	L	81	ENSP00000418401:F81L;ENSP00000417096:F81L	ENSP00000418401:F81L	F	+	3	2	SRPRB	135008231	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	0.522000	0.22909	-0.196000	0.10366	-0.256000	0.11100	TTT	SRPRB	-	pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA		0.403	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPRB	HGNC	protein_coding	OTTHUMT00000357170.2	T			133525541	1	no_errors	ENST00000466490	ensembl	human	known	70_37	missense	SNP	0.999	A	A	133525541	T	A	133525541	3	1	162	1	0	0	0	0	1	0	0	0	15193	1809	63	5	249	5	SRPRB	3	133525541	Missense_Mutation	SNP	T	TCGA-JW-A852-01A-11D-A351-09	19659195	133525541	64496889	18	30640										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	162	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	45410550	178936091	19086339	19	30641										
LPHN3	23284	genome.wustl.edu	37	chr4	62598964	62598964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	attgaacccttacaccctacGgatcgaaggaacatgggata	9	10	0	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:62598964G>A	ENST00000514591.1	+	7	1216	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	LPHN3_ENST00000508946.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.R296Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R296Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R364Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R364Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	296	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACACCCTACGGATCGAAGGA	0.388																																																	0													105	92	96					4																	62598964		1900	4130	6030	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.887G>A	4.37:g.62598964G>A	ENSP00000422533:p.Arg296Gln		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.R364Q	ENST00000514591.1	37	c.1091	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992061	0.74703	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	L	0.37750	1.13	0.54753	D	0.999987	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.80764	0.994;0.994;0.964	D	0.92891	0.6331	10	0.87932	D	0	.	17.9471	0.89042	0.0:0.0:1.0:0.0	.	296;364;296	E9PE04;E7EN28;Q9HAR2-2	.;.;.	Q	296;296;364;364;296;296;296;296;296;364;364;364;296;296;296;364;364;296	ENSP00000423388:R296Q;ENSP00000422533:R296Q;ENSP00000423787:R364Q;ENSP00000425033:R364Q;ENSP00000424120:R296Q;ENSP00000439831:R296Q;ENSP00000421476:R364Q;ENSP00000424030:R364Q;ENSP00000421372:R364Q;ENSP00000425201:R296Q;ENSP00000423434:R296Q;ENSP00000421627:R296Q;ENSP00000420931:R364Q;ENSP00000425884:R364Q;ENSP00000424258:R296Q	ENSP00000280009:R296Q	R	+	2	0	LPHN3	62281559	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	8.062000	0.89475	2.471000	0.83476	0.557000	0.71058	CGG	LPHN3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62598964	1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62598964	G	A	62598964	3	1	162	1	0	0	0	0	1	0	0	0	8940	1116	39	2	905	2	LPHN3	4	62598964	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09		62598964	128555312	20	30642										
ENPEP	2028	genome.wustl.edu	37	chr4	111397808	111397808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aggaccaggacatctgcccgGccagtgaggatgagagcgga	16	10	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:111397808G>A	ENST00000265162.5	+	1	580	c.238G>A	c.(238-240)Gcc>Acc	p.A80T		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	80					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CATCTGCCCGGCCAGTGAGGA	0.652																																																	0													60	64	63					4																	111397808		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.238G>A	4.37:g.111397808G>A	ENSP00000265162:p.Ala80Thr		Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A80T	ENST00000265162.5	37	c.238	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	G	9.217	1.032474	0.19590	.	.	ENSG00000138792	ENST00000265162	T	0.01347	4.99	5.73	4.87	0.63330	.	0.519385	0.21410	N	0.074987	T	0.01870	0.0059	L	0.56769	1.78	0.09310	N	1	B	0.22414	0.069	B	0.19148	0.024	T	0.44847	-0.9301	10	0.23302	T	0.38	.	6.406	0.21664	0.07:0.1327:0.6594:0.1378	.	80	Q07075	AMPE_HUMAN	T	80	ENSP00000265162:A80T	ENSP00000265162:A80T	A	+	1	0	ENPEP	111617257	0.039000	0.19947	0.611000	0.29010	0.065000	0.16274	0.674000	0.25218	1.368000	0.46115	0.491000	0.48974	GCC	ENPEP	-	NULL		0.652	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	G			111397808	1	no_errors	ENST00000265162	ensembl	human	known	70_37	missense	SNP	0.083	A	A	111397808	G	A	111397808	3	1	162	1	0	0	0	0	1	0	0	0	5140	1203	42	4	240	4	ENPEP	4	111397808	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	48798844	111397808	79756468	21	30643										
FSTL5	56884	genome.wustl.edu	37	chr4	162376269	162376269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tgaggcacattcccactggcCagggtaattacctaaagaga	10	10	0	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:162376269C>T	ENST00000306100.5	-	15	2164	c.1728G>A	c.(1726-1728)ctG>ctA	p.L576L	FSTL5_ENST00000379164.4_Silent_p.L575L|FSTL5_ENST00000427802.2_Silent_p.L566L|FSTL5_ENST00000536695.1_Silent_p.L575L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	576						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCCACTGGCCAGGGTAATTA	0.398																																																	0													128	101	110					4																	162376269		2203	4300	6503	SO:0001819	synonymous_variant	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1728G>A	4.37:g.162376269C>T			E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.L576	ENST00000306100.5	37	c.1728	CCDS3802.1	4																																																																																			FSTL5	-	NULL		0.398	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162376269	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	silent	SNP	1.000	T	T	162376269	C	T	162376269	2	4	162	1	0	0	0	0	0	0	0	1	6098	581	21	4		4	FSTL5	4	162376269	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	50978461	162376269	28778007	22	30644										
SPOCK3	50859	genome.wustl.edu	37	chr4	167656176	167656176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	cataatatcgtcttcatcatCctcatcatcagtccattcat	2	13	7	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:167656176C>T	ENST00000357154.3	-	12	1344	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	SPOCK3_ENST00000502330.1_Missense_Mutation_p.D403N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D352N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D305N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D307N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D305N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D271N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D400N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D400N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D283N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D403N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D360N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D403N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D400N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	403	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcatcatcctcatcatca	0.348																																																	0													188	174	179					4																	167656176		2203	4300	6503	SO:0001583	missense	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1207G>A	4.37:g.167656176C>T	ENSP00000349677:p.Asp403Asn		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.D403N	ENST00000357154.3	37	c.1207	CCDS54817.1	4	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345463	0.24426	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.14	4.3	0.51218	.	0.308092	0.32935	N	0.005462	T	0.68412	0.2998	L	0.27053	0.805	0.41061	D	0.985372	B;B;B;B;B;B;B	0.29301	0.048;0.241;0.079;0.023;0.155;0.241;0.155	B;B;B;B;B;B;B	0.32583	0.043;0.148;0.032;0.023;0.071;0.148;0.071	T	0.69379	-0.5161	10	0.62326	D	0.03	-21.0779	13.5363	0.61648	0.0:0.923:0.0:0.077	.	305;307;352;412;360;400;403	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	N	403;400;400;403;403;403;360;283;305;400;271;352;305;307	ENSP00000349677:D403N;ENSP00000350153:D400N;ENSP00000425570:D400N;ENSP00000420920:D403N;ENSP00000423421:D403N;ENSP00000423606:D403N;ENSP00000426716:D360N;ENSP00000444789:D283N;ENSP00000426318:D305N;ENSP00000425502:D400N;ENSP00000441396:D271N;ENSP00000411344:D352N;ENSP00000445430:D305N;ENSP00000438142:D307N	ENSP00000349677:D403N	D	-	1	0	SPOCK3	167892751	1.000000	0.71417	0.110000	0.21437	0.025000	0.11179	5.206000	0.65192	1.297000	0.44761	0.637000	0.83480	GAT	SPOCK3	-	NULL		0.348	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	C			167656176	-1	no_errors	ENST00000357154	ensembl	human	known	70_37	missense	SNP	0.999	T	T	167656176	C	T	167656176	3	4	162	1	0	0	0	0	1	0	0	0	15111	855	30	1	107	1	SPOCK3	4	167656176	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	5279907	167656176	23498100	23	30645										
FAT1	2195	genome.wustl.edu	37	chr4	187527264	187527264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ttcccctggagaagacgggcGcgttgtcattgacatcggac	13	11	1	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr4:187527264G>A	ENST00000441802.2	-	17	10519	c.10310C>T	c.(10309-10311)gCg>gTg	p.A3437V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3437	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAAGACGGGCGCGTTGTCATT	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													142	139	140					4																	187527264		1995	4180	6175	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10310C>T	4.37:g.187527264G>A	ENSP00000406229:p.Ala3437Val			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A3437V	ENST00000441802.2	37	c.10310	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174078	0.57692	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03181	4.02	5.56	5.56	0.83823	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.231220	0.44285	D	0.000476	T	0.06416	0.0165	M	0.64676	1.99	0.48632	D	0.999687	P	0.40875	0.731	B	0.32289	0.143	T	0.19811	-1.0294	10	0.52906	T	0.07	.	19.5318	0.95232	0.0:0.0:1.0:0.0	.	3437	Q14517	FAT1_HUMAN	V	3437;3439	ENSP00000406229:A3437V	ENSP00000260147:A3439V	A	-	2	0	FAT1	187764258	1.000000	0.71417	0.007000	0.13788	0.012000	0.07955	9.624000	0.98398	2.620000	0.88729	0.462000	0.41574	GCG	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187527264	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	missense	SNP	0.891	A	A	187527264	G	A	187527264	3	1	162	1	0	0	0	0	1	0	0	0	5707	1087	38	2	3500	2	FAT1	4	187527264	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	19871088	187527264	3627012	24	30646										
ZDHHC11	79844	genome.wustl.edu	37	chr5	825288	825288	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ctgcaacttacccgtgccgtCgaatccccatcctggtttac	7	16	0	0	rs267600724		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:825288C>T	ENST00000283441.8	-	8	1397	c.1014G>A	c.(1012-1014)tcG>tcA	p.S338S	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.S338S	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	338						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCGTGCCGTCGAATCCCCAT	0.552																																																	0													175	127	143					5																	825288		2203	4296	6499	SO:0001819	synonymous_variant	79844			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1014G>A	5.37:g.825288C>T			Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S338	ENST00000283441.8	37	c.1014	CCDS3857.1	5																																																																																			ZDHHC11	-	NULL		0.552	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	C	NM_024786		825288	-1	no_errors	ENST00000283441	ensembl	human	known	70_37	silent	SNP	0.001	T	T	825288	C	T	825288	2	4	162	1	0	0	0	0	0	0	0	1	17631	871	31	1		1	ZDHHC11	5	825288	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09		825288	180089972	25	30647										
ZNF366	167465	genome.wustl.edu	37	chr5	71756680	71756680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tctcctggggctcggctttcCggggcagcagaggttccggg	17	12	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:71756680C>T	ENST00000318442.5	-	2	1134	c.644G>A	c.(643-645)cGg>cAg	p.R215Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	215					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTCGGCTTTCCGGGGCAGCAG	0.657																																																	0													64	68	66					5																	71756680		2203	4300	6503	SO:0001583	missense	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.644G>A	5.37:g.71756680C>T	ENSP00000313158:p.Arg215Gln		Q5HYI9|Q7RTV4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R215Q	ENST00000318442.5	37	c.644	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433196	0.25813	.	.	ENSG00000178175	ENST00000318442	T	0.08370	3.1	5.64	3.77	0.43336	.	0.099798	0.41001	D	0.000980	T	0.05227	0.0139	N	0.22421	0.69	0.09310	N	1	B	0.25312	0.123	B	0.11329	0.006	T	0.31586	-0.9938	10	0.40728	T	0.16	-49.2794	6.7037	0.23238	0.0:0.6573:0.1322:0.2105	.	215	Q8N895	ZN366_HUMAN	Q	215	ENSP00000313158:R215Q	ENSP00000313158:R215Q	R	-	2	0	ZNF366	71792436	0.000000	0.05858	0.069000	0.20011	0.971000	0.66376	0.236000	0.17967	1.534000	0.49203	0.561000	0.74099	CGG	ZNF366	-	NULL		0.657	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	C			71756680	-1	no_errors	ENST00000318442	ensembl	human	known	70_37	missense	SNP	0.007	T	T	71756680	C	T	71756680	3	4	162	1	0	0	0	0	1	0	0	0	17900	652	23	2	1606	2	ZNF366	5	71756680	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	70931392	71756680	109158580	26	30648										
PCDHA1	56147	genome.wustl.edu	37	chr5	140166014	140166014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aacacggcaccttcgttggcCgcgttgctcaggacctggga	13	13	1	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:140166014C>T	ENST00000504120.2	+	1	139	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R47C|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R47C	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTTGGCCGCGTTGCTCA	0.627																																																	0													50	56	54					5																	140166014		2203	4300	6503	SO:0001583	missense	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.139C>T	5.37:g.140166014C>T	ENSP00000420840:p.Arg47Cys		O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R47C	ENST00000504120.2	37	c.139	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	15.37	2.812274	0.50527	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.28069	1.63;1.63;1.63	4.53	4.53	0.55603	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.43110	U	0.000605	T	0.59851	0.2224	M	0.88979	2.995	0.37954	D	0.932752	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.982	T	0.70988	-0.4722	10	0.87932	D	0	.	12.0541	0.53524	0.2913:0.7087:0.0:0.0	.	47;47;47	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	C	47	ENSP00000420840:R47C;ENSP00000378129:R47C;ENSP00000367373:R47C	ENSP00000367373:R47C	R	+	1	0	PCDHA1	140146198	0.005000	0.15991	1.000000	0.80357	0.500000	0.33767	1.061000	0.30542	2.246000	0.74042	0.650000	0.86243	CGC	PCDHA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	C	NM_018900		140166014	1	no_errors	ENST00000504120	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140166014	C	T	140166014	3	4	162	1	0	0	0	0	1	0	0	0	11543	652	23	2	141	2	PCDHA1	5	140166014	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	68409334	140166014	40749246	27	30649										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720771	140720771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	cgcactttgtgggcgtggacGgggttcgggctttcctgcag	17	10	0	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:140720771G>A	ENST00000394576.2	+	1	2233	c.2233G>A	c.(2233-2235)Ggg>Agg	p.G745R	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	745					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGTGGACGGGGTTCGGGC	0.637																																																	0													73	77	75					5																	140720771		2203	4300	6503	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2233G>A	5.37:g.140720771G>A	ENSP00000378077:p.Gly745Arg		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G745R	ENST00000394576.2	37	c.2233	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	16.26	3.072478	0.55646	.	.	ENSG00000081853	ENST00000394576	T	0.54675	0.56	5.39	5.39	0.77823	.	0.000000	0.41712	U	0.000830	T	0.71929	0.3398	M	0.94063	3.49	0.33089	D	0.537739	D;P	0.54601	0.967;0.875	P;B	0.52793	0.709;0.308	D	0.84699	0.0727	10	0.72032	D	0.01	.	12.1649	0.54125	0.0792:0.0:0.9208:0.0	.	745;745	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	R	745	ENSP00000378077:G745R	ENSP00000378077:G745R	G	+	1	0	PCDHGA2	140700955	1.000000	0.71417	0.959000	0.39883	0.009000	0.06853	3.229000	0.51278	2.536000	0.85505	0.491000	0.48974	GGG	PCDHGA2	-	NULL		0.637	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140720771	1	no_errors	ENST00000394576	ensembl	human	known	70_37	missense	SNP	0.987	A	A	140720771	G	A	140720771	3	1	162	1	0	0	0	0	1	0	0	0	11578	1116	39	2	2235	2	PCDHGA2	5	140720771	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	554757	140720771	40194489	28	30650										
PCDHGB7	56099	genome.wustl.edu	37	chr5	140797447	140797447	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	atgggagggagctgcgcgcaGaggcgccgggccggcccgcg	21	13	0	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:140797447G>A	ENST00000398594.2	+	1	21	c.21G>A	c.(19-21)caG>caA	p.Q7Q	PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	7					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCGCGCAGAggcgccggg	0.627											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													12	14	14					5																	140797447		1791	3974	5765	SO:0001819	synonymous_variant	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.21G>A	5.37:g.140797447G>A		1659	Q9UN63	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q7	ENST00000398594.2	37	c.21	CCDS47293.1	5																																																																																			PCDHGB7	-	NULL		0.627	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	G	NM_018927		140797447	1	no_errors	ENST00000398594	ensembl	human	known	70_37	silent	SNP	0.735	A	A	140797447	G	A	140797447	2	1	162	1	0	0	0	0	0	0	0	1	11592	933	33	1		1	PCDHGB7	5	140797447	Silent	SNP	G	TCGA-JW-A852-01A-11D-A351-09	76676	140797447	40117813	29	30651										
LARP1	23367	genome.wustl.edu	37	chr5	154181657	154181657	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ccaaggatcaggatgagcaaGaggaactggattttctgttt	12	6	2	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:154181657G>C	ENST00000336314.4	+	11	1600	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	603					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGATGAGCAAGAGGAACTGGA	0.502																																																	0													133	127	129					5																	154181657		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1576G>C	5.37:g.154181657G>C	ENSP00000336721:p.Glu526Gln		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.E526Q	ENST00000336314.4	37	c.1576	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.162140	0.94727	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.41400	1.56;1.0;1.04	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71852	-0.4467	10	0.54805	T	0.06	-19.996	20.5211	0.99222	0.0:0.0:1.0:0.0	.	603;526	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	526;603;398	ENSP00000336721:E526Q;ENSP00000428589:E603Q;ENSP00000429904:E398Q	ENSP00000336721:E526Q	E	+	1	0	LARP1	154161850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.787000	0.99055	2.861000	0.98227	0.650000	0.86243	GAG	LARP1	-	NULL		0.502	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	G	NM_033551		154181657	1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	C	C	154181657	G	C	154181657	3	2	162	1	0	0	0	0	1	0	0	0	8648	943	33	1	1618	1	LARP1	5	154181657	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	13384210	154181657	26733603	30	30652										
CDHR2	54825	genome.wustl.edu	37	chr5	176002413	176002413	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tttactcggcctctgtggctGaggatgcagccaaggtgcac	13	11	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:176002413G>A	ENST00000510636.1	+	9	1028	c.754G>A	c.(754-756)Gag>Aag	p.E252K	CDHR2_ENST00000261944.5_Missense_Mutation_p.E252K|CDHR2_ENST00000506348.1_Missense_Mutation_p.E252K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCTGTGGCTGAGGATGCAGC	0.627																																																	0													77	78	78					5																	176002413		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.754G>A	5.37:g.176002413G>A	ENSP00000424565:p.Glu252Lys		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E252K	ENST00000510636.1	37	c.754	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165823	0.78339	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.76316	-1.01;-1.01;-1.01	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92224	0.7534	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94895	0.8051	9	0.87932	D	0	-23.3848	14.7731	0.69693	0.0:0.0:1.0:0.0	.	252	Q9BYE9	CDHR2_HUMAN	K	252	ENSP00000424565:E252K;ENSP00000261944:E252K;ENSP00000421078:E252K	ENSP00000261944:E252K	E	+	1	0	CDHR2	175935019	1.000000	0.71417	0.710000	0.30468	0.684000	0.39900	6.503000	0.73699	2.238000	0.73509	0.478000	0.44815	GAG	CDHR2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	G	NM_017675		176002413	1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	0.880	A	A	176002413	G	A	176002413	3	1	162	1	0	0	0	0	1	0	0	0	3124	1291	45	1	784	1	CDHR2	5	176002413	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	21820756	176002413	4912847	31	30653										
ZFP2	80108	genome.wustl.edu	37	chr5	178358817	178358817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tgaatgtgggaaagcctttaGtcagagcatgaatcttactg	11	6	2	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr5:178358817G>T	ENST00000361362.2	+	5	1033	c.503G>T	c.(502-504)aGt>aTt	p.S168I	ZFP2_ENST00000503510.2_Missense_Mutation_p.S168I|ZFP2_ENST00000523286.1_Missense_Mutation_p.S168I|ZFP2_ENST00000520301.1_Missense_Mutation_p.S168I	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AAAGCCTTTAGTCAGAGCATG	0.408																																																	0													53	53	53					5																	178358817		2203	4300	6503	SO:0001583	missense	80108			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.503G>T	5.37:g.178358817G>T	ENSP00000354453:p.Ser168Ile		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S168I	ENST00000361362.2	37	c.503	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	g	14.03	2.413277	0.42817	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.7	3.8	0.43715	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37623	N	0.002010	T	0.06917	0.0176	L	0.33624	1.015	0.29608	N	0.847181	B	0.29481	0.245	B	0.23150	0.044	T	0.10132	-1.0643	10	0.44086	T	0.13	-14.6318	11.0802	0.48055	0.0:0.365:0.635:0.0	.	168	Q6ZN57	ZFP2_HUMAN	I	168	ENSP00000354453:S168I;ENSP00000430980:S168I;ENSP00000430531:S168I;ENSP00000438114:S168I	ENSP00000354453:S168I	S	+	2	0	ZFP2	178291423	0.000000	0.05858	1.000000	0.80357	0.875000	0.50365	-0.084000	0.11268	1.132000	0.42129	0.585000	0.79938	AGT	ZFP2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	G	NM_030613		178358817	1	no_errors	ENST00000361362	ensembl	human	known	70_37	missense	SNP	0.958	T	T	178358817	G	T	178358817	3	4	162	1	0	0	0	0	1	0	0	0	17671	1029	36	4	505	4	ZFP2	5	178358817	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	2356404	178358817	2556443	32	30654										
SPDEF	25803	genome.wustl.edu	37	chr6	34512080	34512080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aaggcggacaggccctgctcGggcgtggcgggtggactggg	21	10	0	0	rs576498823		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr6:34512080G>A	ENST00000374037.3	-	2	567	c.153C>T	c.(151-153)ccC>ccT	p.P51P	SPDEF_ENST00000544425.1_Silent_p.P51P	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	51					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GGCCCTGCTCGGGCGTGGCGG	0.687													G|||	1	0.000199681	8e-04	0	5008	,	,		14756	0		0	False		,,,				2504	0																0													34	39	37					6																	34512080		2203	4300	6503	SO:0001819	synonymous_variant	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.153C>T	6.37:g.34512080G>A			B4DWH8|F5H778	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.P51	ENST00000374037.3	37	c.153	CCDS4794.1	6																																																																																			SPDEF	-	NULL		0.687	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDEF	HGNC	protein_coding	OTTHUMT00000040246.1	G	NM_012391		34512080	-1	no_errors	ENST00000374037	ensembl	human	known	70_37	silent	SNP	0.916	A	A	34512080	G	A	34512080	2	1	162	1	0	0	0	0	0	0	0	1	15056	1103	39	2		2	SPDEF	6	34512080	Silent	SNP	G	TCGA-JW-A852-01A-11D-A351-09		34512080	136602987	33	30655										
EEF1A1	1915	genome.wustl.edu	37	chr6	74228875	74228875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aagccagaagggcatgctctCgggtctgcccattcttggag	13	11	3	1	rs267601114		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr6:74228875C>T	ENST00000316292.9	-	3	1392	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R134Q|EEF1A1_ENST00000331523.2_Missense_Mutation_p.R134Q	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	134	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GGCATGCTCTCGGGTCTGCCC	0.463											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													17	18	18					6																	74228875		1985	4168	6153	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.401G>A	6.37:g.74228875C>T	ENSP00000339063:p.Arg134Gln	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.R134Q	ENST00000316292.9	37	c.401	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608057	0.66558	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000356303	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	4.43	4.43	0.53597	Protein synthesis factor, GTP-binding (2);	0.063149	0.64402	U	0.000009	T	0.76630	0.4014	M	0.91818	3.245	0.80722	D	1	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.46479	0.518;0.518;0.518;0.518	D	0.84542	0.0639	10	0.87932	D	0	.	17.4834	0.87680	0.0:1.0:0.0:0.0	.	134;134;134;134	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	Q	134	ENSP00000339063:R134Q;ENSP00000339053:R134Q;ENSP00000330054:R134Q;ENSP00000348651:R134Q	ENSP00000339053:R134Q	R	-	2	0	EEF1A1	74285596	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.784000	0.68990	2.176000	0.68965	0.549000	0.68633	CGA	EEF1A1	-	pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.463	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	C	NM_001402		74228875	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74228875	C	T	74228875	3	4	162	1	0	0	0	0	1	0	0	0	4933	884	31	1	1007	1	EEF1A1	6	74228875	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	39716795	74228875	96886192	34	30656										
LAMA4	3910	genome.wustl.edu	37	chr6	112575244	112575244	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gccaaccgctgagctcccttCaatgtcaaaaggaaaagcgt	9	12	2	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr6:112575244C>T	ENST00000230538.7	-	2	506	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	LAMA4_ENST00000453937.2_Missense_Mutation_p.E37K|LAMA4_ENST00000431543.2_Missense_Mutation_p.E37K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E37K|LAMA4_ENST00000368638.4_Missense_Mutation_p.E37K|RP11-506B6.6_ENST00000590804.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.E37K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E37K|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	37					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGCTCCCTTCAATGTCAAAA	0.677																																																	0													15	15	15					6																	112575244		2198	4296	6494	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.109G>A	6.37:g.112575244C>T	ENSP00000230538:p.Glu37Lys		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.E37K	ENST00000230538.7	37	c.109	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186310	0.78789	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639;ENST00000519932;ENST00000431543;ENST00000243219;ENST00000521690;ENST00000368638;ENST00000453937;ENST00000455073	T;T;T;T;T;T;T	0.57907	2.59;2.57;2.57;2.57;1.61;0.76;0.37	4.43	4.43	0.53597	.	0.000000	0.38897	N	0.001521	T	0.47395	0.1443	N	0.19112	0.55	0.33262	D	0.559867	D;D;D;D	0.89917	1.0;1.0;0.993;0.996	D;D;D;D	0.91635	0.999;0.996;0.956;0.981	T	0.51849	-0.8653	10	0.40728	T	0.16	.	15.6098	0.76707	0.0:1.0:0.0:0.0	.	37;37;37;37	Q16363-3;Q6LET9;Q16363;Q16363-2	.;.;LAMA4_HUMAN;.	K	37	ENSP00000230538:E37K;ENSP00000429488:E37K;ENSP00000374114:E37K;ENSP00000416470:E37K;ENSP00000430336:E37K;ENSP00000428583:E37K;ENSP00000412136:E37K	ENSP00000230538:E37K	E	-	1	0	LAMA4	112681937	1.000000	0.71417	0.969000	0.41365	0.396000	0.30629	4.549000	0.60726	2.192000	0.70111	0.313000	0.20887	GAA	LAMA4	-	NULL		0.677	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	C	NM_001105206		112575244	-1	no_errors	ENST00000230538	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112575244	C	T	112575244	3	4	162	1	0	0	0	0	1	0	0	0	8628	835	29	1	5682	1	LAMA4	6	112575244	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	38346369	112575244	58539823	35	30657										
LAMA2	3908	genome.wustl.edu	37	chr6	129762061	129762061	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	acagagctccaccagaacctCgatggcctgaagaagaatta	9	11	0	5			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr6:129762061C>G	ENST00000421865.2	+	43	6235	c.6186C>G	c.(6184-6186)ctC>ctG	p.L2062L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2062	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.L2062L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCAGAACCTCGATGGCCTGA	0.443																																																	1	Substitution - coding silent(1)	lung(1)											115	102	106					6																	129762061		2203	4300	6503	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6186C>G	6.37:g.129762061C>G			Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2062	ENST00000421865.2	37	c.6186	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_II		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	C			129762061	1	no_errors	ENST00000421865	ensembl	human	known	70_37	silent	SNP	0.000	G	G	129762061	C	G	129762061	2	3	162	1	0	0	0	0	0	0	0	1	8626	871	31	1		1	LAMA2	6	129762061	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	17186817	129762061	41353006	36	30658										
POM121L12	285877	genome.wustl.edu	37	chr7	53103693	53103693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	cggggagaccgctctggggcGagacctctcctgtgcctggg	17	13	2	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr7:53103693G>A	ENST00000408890.4	+	1	345	c.329G>A	c.(328-330)cGa>cAa	p.R110Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	110										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCTCTGGGGCGAGACCTCTCC	0.716																																																	0													24	28	27					7																	53103693		1976	4131	6107	SO:0001583	missense	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.329G>A	7.37:g.53103693G>A	ENSP00000386133:p.Arg110Gln		Q8NDI9	Missense_Mutation	SNP	NULL	p.R110Q	ENST00000408890.4	37	c.329	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	G	5.758	0.324188	0.10900	.	.	ENSG00000221900	ENST00000408890	T	0.22539	1.95	1.55	-2.22	0.06952	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	B	0.37943	0.261	T	0.29852	-0.9998	9	0.18710	T	0.47	.	4.0799	0.09921	0.0:0.2747:0.5148:0.2105	.	110	Q8N7R1	P1L12_HUMAN	Q	110	ENSP00000386133:R110Q	ENSP00000386133:R110Q	R	+	2	0	POM121L12	53071187	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.729000	0.04920	-0.722000	0.04922	-0.502000	0.04539	CGA	POM121L12	-	NULL		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	G	NM_182595		53103693	1	no_errors	ENST00000408890	ensembl	human	known	70_37	missense	SNP	0.000	A	A	53103693	G	A	53103693	3	1	162	1	0	0	0	0	1	0	0	0	12265	1058	37	1	331	1	POM121L12	7	53103693	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09		53103693	106034970	37	30659										
PTCD1	26024	genome.wustl.edu	37	chr7	99032527	99032527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tcatctctccgttccccaaaCcgcaggttatggaactgggc	9	14	2	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr7:99032527C>T	ENST00000292478.4	-	2	589	c.339G>A	c.(337-339)cgG>cgA	p.R113R	ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000555673.1_Silent_p.R162R|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.R162R|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	113					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GTTCCCCAAACCGCAGGTTAT	0.537																																																	0													144	153	150					7																	99032527		2203	4300	6503	SO:0001819	synonymous_variant	26024			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.339G>A	7.37:g.99032527C>T			Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.R162	ENST00000292478.4	37	c.486	CCDS34691.1	7																																																																																			PTCD1	-	NULL		0.537	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	C	NM_015545		99032527	-1	no_errors	ENST00000555673	ensembl	human	known	70_37	silent	SNP	0.003	T	T	99032527	C	T	99032527	2	4	162	1	0	0	0	0	0	0	0	1	12754	494	18	4		4	PTCD1	7	99032527	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	45928834	99032527	60106136	38	30660										
DPYSL2	1808	genome.wustl.edu	37	chr8	26441409	26441409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gaggaattgacgtccacactCgtttccagatgcctgatcag	10	11	1	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr8:26441409C>T	ENST00000311151.5	+	3	635	c.223C>T	c.(223-225)Cgt>Tgt	p.R75C	DPYSL2_ENST00000521913.1_Missense_Mutation_p.R39C|DPYSL2_ENST00000523027.1_Missense_Mutation_p.R39C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	75					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CGTCCACACTCGTTTCCAGAT	0.522																																																	0													122	115	117					8																	26441409		2203	4300	6503	SO:0001583	missense	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.223C>T	8.37:g.26441409C>T	ENSP00000309539:p.Arg75Cys		A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R75C	ENST00000311151.5	37	c.223	CCDS6051.1	8	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596862	0.66332	.	.	ENSG00000092964	ENST00000521913;ENST00000493789;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D;D	0.90261	-2.64;-2.14;-2.64;-2.64;-2.64	5.48	5.48	0.80851	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	N	0.11106	0.095	0.80722	D	1	B;B;P	0.36495	0.033;0.33;0.556	B;B;B	0.28305	0.069;0.088;0.088	T	0.81284	-0.1002	10	0.52906	T	0.07	-14.2971	12.8147	0.57658	0.0:0.9261:0.0:0.0739	.	75;75;131	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	C	39;147;75;75;39	ENSP00000427985:R39C;ENSP00000427954:R147C;ENSP00000309539:R75C;ENSP00000428909:R75C;ENSP00000431117:R39C	ENSP00000309539:R75C	R	+	1	0	DPYSL2	26497326	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	5.933000	0.70130	2.861000	0.98227	0.650000	0.86243	CGT	DPYSL2	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.522	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL2	HGNC	protein_coding	OTTHUMT00000216904.3	C	NM_001386		26441409	1	no_errors	ENST00000311151	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26441409	C	T	26441409	3	4	162	1	0	0	0	0	1	0	0	0	4757	884	31	1	233	1	DPYSL2	8	26441409	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09		26441409	119922613	39	30661										
RC3H2	54542	genome.wustl.edu	37	chr9	125616293	125616293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ggtaaggtgacggccttcatCcagggaattccacttctgtt	11	10	2	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr9:125616293C>A	ENST00000373670.1	-	17	3655	c.3055G>T	c.(3055-3057)Gat>Tat	p.D1019Y	RC3H2_ENST00000357244.2_Missense_Mutation_p.D1019Y|RC3H2_ENST00000423239.2_Missense_Mutation_p.D1019Y			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1019					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGGCCTTCATCCAGGGAATTC	0.413																																																	0													108	98	101					9																	125616293		1876	4111	5987	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3055G>T	9.37:g.125616293C>A	ENSP00000362774:p.Asp1019Tyr		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.D1019Y	ENST00000373670.1	37	c.3055	CCDS43874.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.673109|3.673109	0.67928|0.67928	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239|ENST00000454740	T;T;T|.	0.46819|.	0.86;0.86;0.88|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.243530|.	0.42294|.	D|.	0.000737|.	T|T	0.46268|0.46268	0.1384|0.1384	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.99;0.996|.	T|T	0.38950|0.38950	-0.9637|-0.9637	10|5	0.59425|.	D|.	0.04|.	-22.8885|-22.8885	17.7375|17.7375	0.88397|0.88397	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1019;1019|.	Q9HBD1;Q9HBD1-4|.	RC3H2_HUMAN;.|.	Y|C	1019;1019;890;1019|77	ENSP00000362774:D1019Y;ENSP00000349783:D1019Y;ENSP00000411767:D1019Y|.	ENSP00000349783:D1019Y|.	D|W	-|-	1|3	0|0	RC3H2|RC3H2	124656114|124656114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.692000|4.692000	0.61746|0.61746	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|TGG	RC3H2	-	NULL		0.413	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	C	NM_018835		125616293	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	A	A	125616293	C	A	125616293	3	1	162	1	0	0	0	0	1	0	0	0	13197	855	30	3	614	3	RC3H2	9	125616293	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09		125616293	15597138	40	30662										
RAPGEF1	2889	genome.wustl.edu	37	chr9	134465279	134465279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ggtgaagcactcaccagagcTcatccaccacccgtaccagc	8	17	2	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr9:134465279T>C	ENST00000372189.3	-	16	2426	c.2303A>G	c.(2302-2304)gAg>gGg	p.E768G	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E785G|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E786G	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	768	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCACCAGAGCTCATCCACCAC	0.582																																																	0													94	103	100					9																	134465279		2069	4202	6271	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2303A>G	9.37:g.134465279T>C	ENSP00000361263:p.Glu768Gly		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E786G	ENST00000372189.3	37	c.2357	CCDS48047.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.9|26.9	4.783934|4.783934	0.90282|0.90282	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686|ENST00000414781	T;T;T|.	0.35236|.	1.32;1.32;1.32|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71074|.	0.3297|.	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|.	0.70303|.	-0.4909|.	10|.	0.72032|.	D|.	0.01|.	.|.	14.8975|14.8975	0.70654|0.70654	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	768;786|.	Q13905;Q13905-3|.	RPGF1_HUMAN;.|.	G|W	768;785;714;768;786;748;746;213;785|195	ENSP00000361269:E785G;ENSP00000361263:E768G;ENSP00000361264:E786G|.	ENSP00000266110:E768G|.	E|X	-|-	2|3	0|0	RAPGEF1|RAPGEF1	133455100|133455100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.810000|0.810000	0.45777|0.45777	7.694000|7.694000	0.84235|0.84235	2.102000|2.102000	0.63906|0.63906	0.459000|0.459000	0.35465|0.35465	GAG|TGA	RAPGEF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.582	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	T	NM_005312		134465279	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134465279	T	C	134465279	3	2	162	1	0	0	0	0	1	0	0	0	13073	1551	54	5	966	5	RAPGEF1	9	134465279	Missense_Mutation	SNP	T	TCGA-JW-A852-01A-11D-A351-09	8848986	134465279	6748152	41	30663										
EHMT1	79813	genome.wustl.edu	37	chr9	140672487	140672487	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gaaaccttggagagcgctctCatcgccctcgactcggaaaa	10	13	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr9:140672487C>T	ENST00000460843.1	+	13	2199	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.L724L|EHMT1_ENST00000334856.6_Silent_p.L693L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	724					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGAGCGCTCTCATCGCCCTCG	0.567																																																	0													56	61	60					9																	140672487		2203	4300	6503	SO:0001819	synonymous_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2172C>T	9.37:g.140672487C>T			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.L724	ENST00000460843.1	37	c.2172	CCDS7050.2	9																																																																																			EHMT1	-	NULL		0.567	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	C	NM_024757		140672487	1	no_errors	ENST00000460843	ensembl	human	known	70_37	silent	SNP	0.986	T	T	140672487	C	T	140672487	2	4	162	1	0	0	0	0	0	0	0	1	4993	813	29	1		1	EHMT1	9	140672487	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	6207208	140672487	540944	42	30664										
KIAA1462	57608	genome.wustl.edu	37	chr10	30316447	30316447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ttccgcggaagcccacatccTcctgtctgcagtgagcacgg	11	15	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr10:30316447T>C	ENST00000375377.1	-	3	2731	c.2630A>G	c.(2629-2631)gAg>gGg	p.E877G		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	877					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCCCACATCCTCCTGTCTGCA	0.617																																																	0													65	70	68					10																	30316447		2130	4257	6387	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2630A>G	10.37:g.30316447T>C	ENSP00000364526:p.Glu877Gly		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.E877G	ENST00000375377.1	37	c.2630	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676296	0.29783	.	.	ENSG00000165757	ENST00000375377	T	0.12465	2.68	5.44	-4.2	0.03823	.	2.144660	0.01841	N	0.035352	T	0.04679	0.0127	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.36286	-0.9754	10	0.27785	T	0.31	-8.0E-4	9.0066	0.36115	0.0:0.5093:0.2511:0.2397	.	877	Q9P266	K1462_HUMAN	G	877	ENSP00000364526:E877G	ENSP00000364526:E877G	E	-	2	0	KIAA1462	30356453	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.143000	0.10296	-0.828000	0.04273	-0.363000	0.07495	GAG	KIAA1462	-	NULL		0.617	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	T	NM_020848		30316447	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.000	C	C	30316447	T	C	30316447	3	2	162	1	0	0	0	0	1	0	0	0	8254	1551	54	5	1457	5	KIAA1462	10	30316447	Missense_Mutation	SNP	T	TCGA-JW-A852-01A-11D-A351-09		30316447	105218300	43	30665										
SEMA4G	57715	genome.wustl.edu	37	chr10	102740026	102740026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tgctgctcaagcgcaacataCgctacacacaccttacaggg	8	14	1	0	rs150071842		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr10:102740026C>A	ENST00000370250.4	+	10	1649	c.1276C>A	c.(1276-1278)Cgc>Agc	p.R426S	MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R426S|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.R426S|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	426	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCGCAACATACGCTACACACA	0.582																																																	0													115	98	103					10																	102740026		2203	4300	6503	SO:0001583	missense	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1276C>A	10.37:g.102740026C>A	ENSP00000359270:p.Arg426Ser		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.R426S	ENST00000370250.4	37	c.1276		10	.	.	.	.	.	.	.	.	.	.	C	4.834	0.155046	0.09236	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.09	4.14	0.48551	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.230650	0.42548	D	0.000686	T	0.09905	0.0243	L	0.41356	1.27	0.27819	N	0.941855	B;B;B	0.33964	0.168;0.434;0.016	B;B;B	0.34038	0.139;0.174;0.047	T	0.15723	-1.0427	10	0.11794	T	0.64	.	8.5267	0.33309	0.286:0.5719:0.1421:0.0	.	426;426;426	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	S	426	ENSP00000428896:R426S;ENSP00000359270:R426S;ENSP00000430175:R426S;ENSP00000210633:R426S	ENSP00000210633:R426S	R	+	1	0	SEMA4G	102730016	0.914000	0.31030	1.000000	0.80357	0.232000	0.25224	1.437000	0.34991	2.370000	0.80446	0.484000	0.47621	CGC	SEMA4G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.582	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	C			102740026	1	no_errors	ENST00000210633	ensembl	human	known	70_37	missense	SNP	0.959	A	A	102740026	C	A	102740026	3	1	162	1	0	0	0	0	1	0	0	0	14066	536	19	2	1314	2	SEMA4G	10	102740026	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	72423579	102740026	32794721	44	30666										
HTRA1	5654	genome.wustl.edu	37	chr10	124266386	124266386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gacatggactacatccagacCgacgccatcatcaacgtgag	9	13	2	2	rs373287445		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr10:124266386C>T	ENST00000368984.3	+	4	1085	c.957C>T	c.(955-957)acC>acT	p.T319T		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	319	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACATCCAGACCGACGCCATCA	0.592																																																	0								C		0,4406		0,0,2203	77	54	62		957	-10.5	0.1	10		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HTRA1	NM_002775.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		319/481	124266386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5654			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.957C>T	10.37:g.124266386C>T			D3DRE4|Q9UNS5	Silent	SNP	pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,prints_Peptidase_S1C,pfscan_PDZ	p.T319	ENST00000368984.3	37	c.957	CCDS7630.1	10																																																																																			HTRA1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,prints_Peptidase_S1C		0.592	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	C	NM_002775		124266386	1	no_errors	ENST00000368984	ensembl	human	known	70_37	silent	SNP	0.003	T	T	124266386	C	T	124266386	2	4	162	1	0	0	0	0	0	0	0	1	7473	639	23	2		2	HTRA1	10	124266386	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	21526360	124266386	11268361	45	30667										
MUC2	4583	genome.wustl.edu	37	chr11	1092219	1092219	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tcggtcaaggatccccacctCagcttggagcagctaggcca	11	14	2	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:1092219C>G	ENST00000441003.2	+	30	4065	c.4038C>G	c.(4036-4038)ctC>ctG	p.L1346L	MUC2_ENST00000359061.5_Silent_p.L1347L|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Silent_p.L12L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1346					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ATCCCCACCTCAGCTTGGAGC	0.552																																																	0													123	132	129					11																	1092219		2151	4242	6393	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4038C>G	11.37:g.1092219C>G			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L1346	ENST00000441003.2	37	c.4038		11																																																																																			MUC2	-	NULL		0.552	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	C	NM_002457		1092219	1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.000	G	G	1092219	C	G	1092219	2	3	162	1	0	0	0	0	0	0	0	1	9998	813	29	1		1	MUC2	11	1092219	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09		1092219	133914297	46	30668										
ALKBH3	221120	genome.wustl.edu	37	chr11	43941472	43941472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gtgtatttccatttagcatcGagtgcccaaagaataccact	7	10	0	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:43941472G>A	ENST00000302708.4	+	10	1184	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000499194.1_RNA|RP11-613D13.4_ENST00000526408.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	258	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	ATTTAGCATCGAGTGCCCAAA	0.423								Direct reversal of damage																																									0													155	148	150					11																	43941472		2203	4300	6503	SO:0001583	missense	221120			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"Alkylation repair homologs"	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.773G>A	11.37:g.43941472G>A	ENSP00000302232:p.Arg258Gln		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.R258Q	ENST00000302708.4	37	c.773	CCDS7906.1	11	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890842	0.33348	.	.	ENSG00000166199	ENST00000302708	T	0.13901	2.55	5.67	5.67	0.87782	Oxoglutarate/iron-dependent oxygenase (2);	0.202809	0.44688	D	0.000427	T	0.06600	0.0169	N	0.16016	0.355	0.80722	D	1	P	0.45011	0.848	B	0.30105	0.111	T	0.45745	-0.9240	10	0.15066	T	0.55	-7.6255	15.2731	0.73720	0.0:0.0:1.0:0.0	.	258	Q96Q83	ALKB3_HUMAN	Q	258	ENSP00000302232:R258Q	ENSP00000302232:R258Q	R	+	2	0	ALKBH3	43898048	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	3.280000	0.51677	2.677000	0.91161	0.655000	0.94253	CGA	ALKBH3	-	pfam_Oxoglu/Fe-dep_dioxygenase		0.423	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	G	NM_139178		43941472	1	no_errors	ENST00000302708	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43941472	G	A	43941472	3	1	162	1	0	0	0	0	1	0	0	0	528	1058	37	1	807	1	ALKBH3	11	43941472	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	42849253	43941472	91065044	47	30669										
OR8K3	219473	genome.wustl.edu	37	chr11	56086680	56086681	+	Frame_Shift_Ins	INS	-	-	A													0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	caaagatgtaaaatatgcccINStacgaaggacatggaataac							TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:56086680_56086681insA	ENST00000312711.1	+	1	898_899	c.898_899insA	c.(898-900)ctafs	p.L300fs		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AAAATATGCCCTACGAAGGACA	0.327																																																	0																																										SO:0001589	frameshift_variant	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	Exception_encountered	11.37:g.56086680_56086681insA	ENSP00000323555:p.Leu300fs		Q6IFC4	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L300fs	ENST00000312711.1	37	c.898_899	CCDS31527.1	11																																																																																			OR8K3	-	NULL		0.327	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	-	NM_001005202		56086681	1	no_errors	ENST00000312711	ensembl	human	known	70_37	frame_shift_ins	INS	0.004:0.022	A	A	56086681	-	A	56086680	7	5	162	1	0	1	1	0	0	0	0	0	11268	680	24	0	900	0	OR8K3	11	56086680	Frame_Shift_Ins	INS	-	TCGA-JW-A852-01A-11D-A351-09	12145208	56086680	78919836	48	30670										
CTNND1	1500	genome.wustl.edu	37	chr11	57576858	57576858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ttgaacactatcaacgaggtTatcgctgagaacttggaggc	11	8	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:57576858T>C	ENST00000399050.4	+	15	2891	c.2355T>C	c.(2353-2355)gtT>gtC	p.V785V	CTNND1_ENST00000399039.4_Silent_p.V785V|CTNND1_ENST00000531014.1_Silent_p.V456V|CTNND1_ENST00000526357.1_Silent_p.V725V|CTNND1_ENST00000526772.1_Silent_p.V456V|CTNND1_ENST00000361796.4_Silent_p.V779V|CTNND1_ENST00000529526.1_Silent_p.V725V|CTNND1_ENST00000358694.6_Silent_p.V779V|CTNND1_ENST00000532787.1_Silent_p.V678V|CTNND1_ENST00000528621.1_Silent_p.V725V|CTNND1_ENST00000532649.1_Silent_p.V725V|CTNND1_ENST00000530094.1_Silent_p.V678V|CTNND1_ENST00000415361.2_Silent_p.V684V|CTNND1_ENST00000360682.6_Silent_p.V785V|CTNND1_ENST00000530748.1_Silent_p.V731V|CTNND1_ENST00000428599.2_Silent_p.V779V|CTNND1_ENST00000529986.1_Silent_p.V678V|CTNND1_ENST00000533667.1_Silent_p.V456V|CTNND1_ENST00000361391.6_Silent_p.V779V|CTNND1_ENST00000532844.1_Silent_p.V731V|CTNND1_ENST00000526938.1_Silent_p.V785V|CTNND1_ENST00000361332.4_Silent_p.V779V|CTNND1_ENST00000534579.1_Silent_p.V725V|CTNND1_ENST00000529873.1_Silent_p.V725V|CTNND1_ENST00000532463.1_Silent_p.V678V|CTNND1_ENST00000529919.1_Silent_p.V785V|CTNND1_ENST00000525902.1_Silent_p.V462V|CTNND1_ENST00000527467.1_Silent_p.V462V|CTNND1_ENST00000524630.1_Silent_p.V779V|CTNND1_ENST00000532245.1_Silent_p.V678V|CTNND1_ENST00000528232.1_Silent_p.V684V|CTNND1_ENST00000426142.2_Silent_p.V678V	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	785					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCAACGAGGTTATCGCTGAGA	0.443																																																	0													87	87	87					11																	57576858		1884	4100	5984	SO:0001819	synonymous_variant	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2355T>C	11.37:g.57576858T>C			A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V785	ENST00000399050.4	37	c.2355	CCDS44604.1	11																																																																																			CTNND1	-	superfamily_ARM-type_fold		0.443	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	T	NM_001331		57576858	1	no_errors	ENST00000399050	ensembl	human	known	70_37	silent	SNP	0.994	C	C	57576858	T	C	57576858	2	2	162	1	0	0	0	0	0	0	0	1	4024	1741	61	5		5	CTNND1	11	57576858	Silent	SNP	T	TCGA-JW-A852-01A-11D-A351-09	1490178	57576858	77429658	49	30671										
OR10W1	81341	genome.wustl.edu	37	chr11	58034737	58034737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	atgaggaagaaaggcacagcAatggctagtatggctgccac	13	8	0	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:58034737A>G	ENST00000395079.2	-	1	995	c.594T>C	c.(592-594)atT>atC	p.I198I		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAGGCACAGCAATGGCTAGTA	0.537																																																	0													104	86	92					11																	58034737		2201	4295	6496	SO:0001819	synonymous_variant	81341			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.594T>C	11.37:g.58034737A>G			A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I198	ENST00000395079.2	37	c.594	CCDS7968.1	11																																																																																			OR10W1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	HGNC	protein_coding	OTTHUMT00000394704.1	A	NM_207374		58034737	-1	no_errors	ENST00000395079	ensembl	human	known	70_37	silent	SNP	0.001	G	G	58034737	A	G	58034737	2	3	162	1	0	0	0	0	0	0	0	1	10945	126	5	5		5	OR10W1	11	58034737	Silent	SNP	A	TCGA-JW-A852-01A-11D-A351-09	457879	58034737	76971779	50	30672										
TCN1	6947	genome.wustl.edu	37	chr11	59626606	59626606	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gagaccattttcttttttctCagacagaatcttttctacca	4	10	4	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:59626606C>G	ENST00000257264.3	-	5	795	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	231	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTTTTTCTCAGACAGAATC	0.403																																																	0													170	161	164					11																	59626606		2201	4295	6496	SO:0001583	missense	6947			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.691G>C	11.37:g.59626606C>G	ENSP00000257264:p.Glu231Gln		A8KAC5|Q8WV77	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.E231Q	ENST00000257264.3	37	c.691	CCDS7978.1	11	.	.	.	.	.	.	.	.	.	.	C	3.543	-0.093303	0.07053	.	.	ENSG00000134827	ENST00000257264	T	0.36340	1.26	4.92	-0.931	0.10438	.	0.577881	0.14636	N	0.307534	T	0.18841	0.0452	L	0.32530	0.975	0.09310	N	1	B	0.17852	0.024	B	0.24394	0.053	T	0.23511	-1.0186	10	0.11794	T	0.64	.	1.6198	0.02711	0.1517:0.3304:0.3263:0.1916	.	231	P20061	TCO1_HUMAN	Q	231	ENSP00000257264:E231Q	ENSP00000257264:E231Q	E	-	1	0	TCN1	59383182	0.000000	0.05858	0.022000	0.16811	0.039000	0.13416	-0.260000	0.08708	-0.049000	0.13379	-0.143000	0.13931	GAG	TCN1	-	pfam_Cbl-bd_transpt_euk		0.403	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCN1	HGNC	protein_coding	OTTHUMT00000394503.1	C	NM_001062		59626606	-1	no_errors	ENST00000257264	ensembl	human	known	70_37	missense	SNP	0.003	G	G	59626606	C	G	59626606	3	3	162	1	0	0	0	0	1	0	0	0	15736	835	29	1	630	1	TCN1	11	59626606	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	1591869	59626606	75379910	51	30673										
CCDC88B	283234	genome.wustl.edu	37	chr11	64108934	64108934	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	atccgccacatccagggcctCagtctcgaggtccagagcga	11	15	2	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:64108934C>T	ENST00000356786.5	+	6	533	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	163						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCAGGGCCTCAGTCTCGAGG	0.637																																																	0													52	51	51					11																	64108934		2201	4297	6498	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.489C>T	11.37:g.64108934C>T			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_HOOK	p.L163	ENST00000356786.5	37	c.489	CCDS8072.2	11																																																																																			CCDC88B	-	pfam_HOOK		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	C	NM_032251		64108934	1	no_errors	ENST00000356786	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64108934	C	T	64108934	2	4	162	1	0	0	0	0	0	0	0	1	2869	813	29	1		1	CCDC88B	11	64108934	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	4482328	64108934	70897582	52	30674										
EHD1	10938	genome.wustl.edu	37	chr11	64645608	64645608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ccaccacgagcgcgttgcccGgcaccacgccctcagtgggg	13	18	1	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:64645608G>A	ENST00000320631.3	-	1	583	c.329C>T	c.(328-330)cCg>cTg	p.P110L	EHD1_ENST00000359393.2_Missense_Mutation_p.P110L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	110	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGCGTTGCCCGGCACCACGCC	0.682																																																	0													50	43	46					11																	64645608		2199	4295	6494	SO:0001583	missense	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.329C>T	11.37:g.64645608G>A	ENSP00000320516:p.Pro110Leu		O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.P110L	ENST00000320631.3	37	c.329	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775509	0.90195	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000433803;ENST00000457202;ENST00000411683	D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78	3.75	2.8	0.32819	Dynamin, GTPase domain (1);	0.059969	0.64402	D	0.000002	D	0.98356	0.9454	H	0.97829	4.085	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	D	0.98350	1.0543	10	0.87932	D	0	-42.1454	11.2972	0.49284	0.0:0.1866:0.8133:0.0	.	110;110	B2R5U3;Q9H4M9	.;EHD1_HUMAN	L	110;110;86;124;124;110;110	ENSP00000320516:P110L;ENSP00000352354:P110L;ENSP00000404944:P124L;ENSP00000399022:P110L;ENSP00000403830:P110L	ENSP00000320516:P110L	P	-	2	0	EHD1	64402184	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.424000	0.97464	1.129000	0.42072	0.561000	0.74099	CCG	EHD1	-	pfam_Dynamin_GTPase		0.682	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	G	NM_006795		64645608	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64645608	G	A	64645608	3	1	162	1	0	0	0	0	1	0	0	0	4987	1116	39	2	1295	2	EHD1	11	64645608	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	536674	64645608	70360908	53	30675										
MLL	4297	genome.wustl.edu	37	chr11	118342900	118342900	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ggaacacctccacttacaaaAgaagataagacagttgtcag	8	9	1	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:118342900A>G	ENST00000389506.5	+	3	1026	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	KMT2A_ENST00000534358.1_Silent_p.K342K|KMT2A_ENST00000354520.4_Silent_p.K342K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	342					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CACTTACAAAAGAAGATAAGA	0.433																																																	0													67	72	71					11																	118342900		2198	4296	6494	SO:0001819	synonymous_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1026A>G	11.37:g.118342900A>G			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.K342	ENST00000389506.5	37	c.1026	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	A	NM_005933		118342900	1	no_errors	ENST00000389506	ensembl	human	known	70_37	silent	SNP	0.912	G	G	118342900	A	G	118342900	2	3	162	1	0	0	0	0	0	0	0	1	9643	69	3	5		5	MLL	11	118342900	Silent	SNP	A	TCGA-JW-A852-01A-11D-A351-09	53697292	118342900	16663616	54	30676										
MLL	4297	genome.wustl.edu	37	chr11	118376933	118376933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	cagactacgggcataacagcCgcttcaccttctggggaagc	11	13	2	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr11:118376933C>T	ENST00000389506.5	+	27	10317	c.10317C>T	c.(10315-10317)gcC>gcT	p.A3439A	KMT2A_ENST00000534358.1_Silent_p.A3442A|KMT2A_ENST00000354520.4_Silent_p.A3401A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3439					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCATAACAGCCGCTTCACCTT	0.532																																																	0													96	84	88					11																	118376933		2200	4295	6495	SO:0001819	synonymous_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10317C>T	11.37:g.118376933C>T			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.A3439	ENST00000389506.5	37	c.10317	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax		0.532	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	C	NM_005933		118376933	1	no_errors	ENST00000389506	ensembl	human	known	70_37	silent	SNP	0.029	T	T	118376933	C	T	118376933	2	4	162	1	0	0	0	0	0	0	0	1	9643	639	23	2		2	MLL	11	118376933	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	34033	118376933	16629583	55	30677										
WNK1	65125	genome.wustl.edu	37	chr12	970493	970493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	caactacagtaccagcaaccCagtatatctgtgttatgtac	6	11	1	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr12:970493C>T	ENST00000315939.6	+	7	2578	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	WNK1_ENST00000340908.4_Silent_p.P238P|WNK1_ENST00000535572.1_Silent_p.P645P|WNK1_ENST00000537687.1_Silent_p.P645P|WNK1_ENST00000530271.2_Silent_p.P645P	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	645					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCAGCAACCCAGTATATCTG	0.403																																					Colon(19;451 567 6672 12618 28860)												0													105	97	99					12																	970493		2203	4300	6503	SO:0001819	synonymous_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1935C>T	12.37:g.970493C>T			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P645	ENST00000315939.6	37	c.1935	CCDS8506.1	12																																																																																			WNK1	-	NULL		0.403	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		970493	1	no_errors	ENST00000530271	ensembl	human	known	70_37	silent	SNP	0.896	T	T	970493	C	T	970493	2	4	162	1	0	0	0	0	0	0	0	1	17408	581	21	4		4	WNK1	12	970493	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09		970493	132881402	56	30678										
PRH2	5555	genome.wustl.edu	37	chr12	11083355	11083355	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tctgctggtgatgggaaccaGaatgatggccctcagcaggg	15	9	2	3	rs112809344		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr12:11083355G>C	ENST00000396400.3	+	3	233	c.195G>C	c.(193-195)caG>caC	p.Q65H	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.Q65H	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	65						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						ATGGGAACCAGAATGATGGCC	0.577																																																	0													133	129	130					12																	11083355		2189	4282	6471	SO:0001583	missense	5555				CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"parotid proline-rich protein", "acidic salivary proline-rich protein, HaeIII type, 2"	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.195G>C	12.37:g.11083355G>C	ENSP00000379682:p.Gln65His		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	NULL	p.Q65H	ENST00000396400.3	37	c.195	CCDS8636.1	12	.	.	.	.	.	.	.	.	.	.	G	4.942	0.175013	0.09391	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.17370	2.28;2.28	0.736	-0.897	0.10553	.	.	.	.	.	T	0.12689	0.0308	L	0.39898	1.24	0.09310	N	1	D	0.58268	0.982	P	0.44518	0.452	T	0.15549	-1.0433	9	0.49607	T	0.09	.	2.8941	0.05685	0.6245:0.0:0.3755:0.0	.	65	P02810	PRPC_HUMAN	H	65	ENSP00000371271:Q65H;ENSP00000379682:Q65H	ENSP00000371271:Q65H	Q	+	3	2	PRH2	10974622	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.313000	0.08103	-0.234000	0.09782	-0.498000	0.04607	CAG	PRH2	-	NULL		0.577	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRH2	HGNC	protein_coding	OTTHUMT00000400231.1	G	NM_001110213		11083355	1	no_errors	ENST00000381847	ensembl	human	known	70_37	missense	SNP	0.000	C	C	11083355	G	C	11083355	3	2	162	1	0	0	0	0	1	0	0	0	12510	933	33	1	205	1	PRH2	12	11083355	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	10112862	11083355	122768540	57	30679										
BTBD11	121551	genome.wustl.edu	37	chr12	108013935	108013935	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	atgtttgagatcctgaaagcGagcaaggtatgtggggtttg	15	4	0	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr12:108013935G>A	ENST00000280758.5	+	11	3153	c.2625G>A	c.(2623-2625)gcG>gcA	p.A875A	BTBD11_ENST00000420571.2_Silent_p.A756A|BTBD11_ENST00000490090.2_Silent_p.A875A|BTBD11_ENST00000357167.4_Silent_p.A412A|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	875						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGAAAGCGAGCAAGGTAT	0.507																																																	0													114	111	112					12																	108013935		2203	4300	6503	SO:0001819	synonymous_variant	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2625G>A	12.37:g.108013935G>A			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.A875	ENST00000280758.5	37	c.2625	CCDS31893.1	12																																																																																			BTBD11	-	NULL		0.507	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	G	NM_152322		108013935	1	no_errors	ENST00000280758	ensembl	human	known	70_37	silent	SNP	0.768	A	A	108013935	G	A	108013935	2	1	162	1	0	0	0	0	0	0	0	1	1542	1045	37	1		1	BTBD11	12	108013935	Silent	SNP	G	TCGA-JW-A852-01A-11D-A351-09	96930580	108013935	25837960	58	30680										
TMEM132D	121256	genome.wustl.edu	37	chr12	130015619	130015619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ctcacctgttttctgagccaGctgctttcttctgacaaacg	7	13	4	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr12:130015619G>A	ENST00000422113.2	-	3	1426	c.1100C>T	c.(1099-1101)gCt>gTt	p.A367V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	367					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCTGAGCCAGCTGCTTTCTT	0.473																																																	0													82	76	78					12																	130015619		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1100C>T	12.37:g.130015619G>A	ENSP00000408581:p.Ala367Val		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.A367V	ENST00000422113.2	37	c.1100	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596419	0.28445	.	.	ENSG00000151952	ENST00000422113	T	0.13901	2.55	4.97	4.08	0.47627	.	0.800527	0.10944	N	0.616953	T	0.16342	0.0393	L	0.59436	1.845	0.09310	N	1	B	0.26809	0.16	B	0.24701	0.055	T	0.17018	-1.0383	9	.	.	.	-1.3602	11.7171	0.51659	0.0823:0.0:0.9177:0.0	.	367	Q14C87	T132D_HUMAN	V	367	ENSP00000408581:A367V	.	A	-	2	0	TMEM132D	128581572	0.050000	0.20438	0.001000	0.08648	0.666000	0.39218	2.560000	0.45896	1.093000	0.41377	0.655000	0.94253	GCT	TMEM132D	-	NULL		0.473	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	G	NM_133448		130015619	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	missense	SNP	0.006	A	A	130015619	G	A	130015619	3	1	162	1	0	0	0	0	1	0	0	0	16077	971	34	4	2227	4	TMEM132D	12	130015619	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	22001684	130015619	3836276	59	30681										
RB1	5925	genome.wustl.edu	37	chr13	48942685	48942685	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ttgaaacacagagaacaccaCgaaaaagtaaccttgatgaa	7	8	0	4	rs121913301		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr13:48942685C>T	ENST00000267163.4	+	11	1210	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	358			R -> G (in RB). {ECO:0000269|PubMed:8776589}.|R -> Q (in RB).		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)|p.R358*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GAGAACACCACGAAAAAGTAA	0.289		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	27	Whole gene deletion(15)|Unknown(7)|Substitution - Nonsense(5)	bone(11)|eye(6)|breast(5)|adrenal_gland(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM951105|CM961226	RB1	M	rs121913301						103	97	99					13																	48942685		2203	4299	6502	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1072C>T	13.37:g.48942685C>T	ENSP00000267163:p.Arg358*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.R358*	ENST00000267163.4	37	c.1072	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484616	0.84854	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	4.0	0.46444	.	0.191868	0.43416	D	0.000572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8601	0.70376	0.2717:0.7283:0.0:0.0	.	.	.	.	X	337;358	.	ENSP00000267163:R358X	R	+	1	2	RB1	47840686	0.042000	0.20092	0.842000	0.33263	0.141000	0.21300	0.255000	0.18333	1.485000	0.48380	0.655000	0.94253	CGA	RB1	-	NULL		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			48942685	1	no_errors	ENST00000267163	ensembl	human	known	70_37	nonsense	SNP	0.738	T	T	48942685	C	T	48942685	4	4	162	1	0	0	0	0	0	1	0	0	13128	528	19	2	1114	2	RB1	13	48942685	Nonsense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09		48942685	66227193	60	30682										
TRPM1	4308	genome.wustl.edu	37	chr15	31295133	31295133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ggtcagacctgtcgattcccGcaagattttcaagagcattc	9	11	2	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr15:31295133G>A	ENST00000256552.6	-	28	3917	c.3770C>T	c.(3769-3771)gCg>gTg	p.A1257V	TRPM1_ENST00000397795.2_Missense_Mutation_p.A1235V|TRPM1_ENST00000542188.1_Missense_Mutation_p.A1274V|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTCGATTCCCGCAAGATTTTC	0.468																																																	0													106	103	104					15																	31295133		1980	4160	6140	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3770C>T	15.37:g.31295133G>A	ENSP00000256552:p.Ala1257Val			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.A1274V	ENST00000256552.6	37	c.3821	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336285	0.24253	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.58506	0.33;0.33;0.33	5.2	2.29	0.28610	.	0.215502	0.47852	N	0.000217	T	0.47948	0.1473	L	0.43701	1.375	0.35049	D	0.760494	B;B	0.20671	0.047;0.012	B;B	0.15870	0.014;0.004	T	0.54873	-0.8228	10	0.42905	T	0.14	-9.8125	13.2333	0.59955	0.1475:0.0:0.8525:0.0	.	1229;1235	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	V	1235;1274;1257;1235	ENSP00000380897:A1235V;ENSP00000437849:A1274V;ENSP00000256552:A1257V	ENSP00000256552:A1257V	A	-	2	0	TRPM1	29082425	1.000000	0.71417	0.007000	0.13788	0.238000	0.25445	3.846000	0.55888	0.575000	0.29434	-1.069000	0.02264	GCG	TRPM1	-	NULL		0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31295133	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	0.772	A	A	31295133	G	A	31295133	3	1	162	1	0	0	0	0	1	0	0	0	16616	1087	38	2	1111	2	TRPM1	15	31295133	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09		31295133	71236259	61	30683										
MGA	23269	genome.wustl.edu	37	chr15	42058491	42058491	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gttgacgtttccaatatgcaGaaagcacaagagttcttacc	8	9	1	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr15:42058491G>C	ENST00000570161.1	+	23	8211	c.8211G>C	c.(8209-8211)caG>caC	p.Q2737H	MGA_ENST00000545763.1_Missense_Mutation_p.Q2528H|MGA_ENST00000389936.4_Missense_Mutation_p.Q2698H|MGA_ENST00000566586.1_Missense_Mutation_p.Q2528H|MGA_ENST00000219905.7_Missense_Mutation_p.Q2737H			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAATATGCAGAAAGCACAAG	0.413																																																	0													48	45	46					15																	42058491		1840	4094	5934	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8211G>C	15.37:g.42058491G>C	ENSP00000457035:p.Gln2737His		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.Q2737H	ENST00000570161.1	37	c.8211	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231066	0.58777	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85629	-1.98;-2.01;-2.01	5.37	1.16	0.20824	.	2.116450	0.02186	N	0.060899	D	0.82701	0.5094	N	0.19112	0.55	0.22675	N	0.998865	P;P	0.48016	0.904;0.845	P;P	0.51135	0.66;0.459	T	0.70270	-0.4918	10	0.87932	D	0	.	7.2958	0.26393	0.3888:0.0:0.6112:0.0	.	2528;2737	F5H7K2;E7ENI0	.;.	H	2737;2698;2528	ENSP00000219905:Q2737H;ENSP00000374586:Q2698H;ENSP00000442467:Q2528H	ENSP00000219905:Q2737H	Q	+	3	2	MGA	39845783	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	1.162000	0.31786	0.037000	0.15575	0.650000	0.86243	CAG	MGA	-	NULL		0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		42058491	1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.985	C	C	42058491	G	C	42058491	3	2	162	1	0	0	0	0	1	0	0	0	9563	933	33	1	8301	1	MGA	15	42058491	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	10763358	42058491	60472901	62	30684										
PSTPIP1	9051	genome.wustl.edu	37	chr15	77317846	77317846	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gctctgcccccagaaatggaGaatgtgggcagctcacacat	11	12	2	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr15:77317846G>C	ENST00000558012.1	+	5	744	c.255G>C	c.(253-255)gaG>gaC	p.E85D	PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E84D|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E85D|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E85D	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	85					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CAGAAATGGAGAATGTGGGCA	0.617																																																	0													26	29	28					15																	77317846		2045	4148	6193	SO:0001583	missense	9051			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.255G>C	15.37:g.77317846G>C	ENSP00000452746:p.Glu85Asp		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH	p.E150D	ENST00000558012.1	37	c.450	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884188	0.51908	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.20598	2.06;2.06	5.11	4.2	0.49525	Fps/Fes/Fer/CIP4 homology (2);Prismane-like (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.53561	1.675	0.48185	D	0.999605	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.97110	0.992;1.0;0.994;0.988	T	0.08932	-1.0698	10	0.25106	T	0.35	-15.1282	7.1557	0.25637	0.264:0.0:0.736:0.0	.	85;84;85;85	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	D	85;84	ENSP00000368914:E85D;ENSP00000267939:E84D	ENSP00000267939:E84D	E	+	3	2	PSTPIP1	75104901	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.158000	0.50723	1.158000	0.42547	0.561000	0.74099	GAG	PSTPIP1	-	pfam_FCH,superfamily_Prismane-like,smart_FCH		0.617	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	G	NM_003978		77317846	1	no_errors	ENST00000559785	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77317846	G	C	77317846	3	2	162	1	0	0	0	0	1	0	0	0	12748	933	33	1	273	1	PSTPIP1	15	77317846	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	35259355	77317846	25213546	63	30685										
C15orf42	90381	genome.wustl.edu	37	chr15	90164700	90164700	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ggggcaatgtctgagatgatCagcccctcagaaaagggttc	13	9	3	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr15:90164700C>A	ENST00000268138.7	+	19	3336	c.3231C>A	c.(3229-3231)atC>atA	p.I1077I	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.I1076I			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1077					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CTGAGATGATCAGCCCCTCAG	0.428																																																	0													70	66	67					15																	90164700		1822	4085	5907	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3231C>A	15.37:g.90164700C>A			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.I1077	ENST00000268138.7	37	c.3231	CCDS10352.2	15																																																																																			TICRR	-	NULL		0.428	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90164700	1	no_errors	ENST00000268138	ensembl	human	known	70_37	silent	SNP	0.118	A	A	90164700	C	A	90164700	2	1	162	1	0	0	0	0	0	0	0	1	1800	816	29	3		3	C15orf42	15	90164700	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	12846854	90164700	12366692	64	30686										
MGRN1	23295	genome.wustl.edu	37	chr16	4700414	4700414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gggaggagagaaattcgacaCcccccaccctgaaggttacc	11	13	0	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:4700414C>A	ENST00000399577.5	+	2	230	c.137C>A	c.(136-138)aCc>aAc	p.T46N	MGRN1_ENST00000415496.1_Missense_Mutation_p.T46N|MGRN1_ENST00000588994.1_Missense_Mutation_p.T46N|MGRN1_ENST00000586183.1_Missense_Mutation_p.T46N|MGRN1_ENST00000262370.7_Missense_Mutation_p.T46N	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	46					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AAATTCGACACCCCCCACCCT	0.468																																																	0													91	96	94					16																	4700414		1877	4115	5992	SO:0001583	missense	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.137C>A	16.37:g.4700414C>A	ENSP00000382487:p.Thr46Asn		A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.T46N	ENST00000399577.5	37	c.137	CCDS45402.1	16	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694347	0.88830	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.01	5.01	0.66863	.	0.047511	0.85682	D	0.000000	T	0.56187	0.1968	M	0.73598	2.24	0.80722	D	1	D;D;P;P;D;D	0.76494	0.999;0.968;0.615;0.945;0.991;0.999	D;P;B;P;D;D	0.91635	0.999;0.889;0.266;0.778;0.948;0.997	T	0.59150	-0.7508	10	0.54805	T	0.06	-45.1821	15.8117	0.78571	0.0:1.0:0.0:0.0	.	46;46;46;46;46;46	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	N	46	ENSP00000262370:T46N;ENSP00000382487:T46N;ENSP00000393311:T46N;ENSP00000443810:T46N	ENSP00000262370:T46N	T	+	2	0	MGRN1	4640415	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.754000	0.85163	2.323000	0.78572	0.555000	0.69702	ACC	MGRN1	-	NULL		0.468	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	C			4700414	1	no_errors	ENST00000262370	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4700414	C	A	4700414	3	1	162	1	0	0	0	0	1	0	0	0	9582	507	18	4	143	4	MGRN1	16	4700414	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09		4700414	85654339	65	30687										
ZNF19	7567	genome.wustl.edu	37	chr16	71509103	71509103	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aagggggtaaaaaattctggGaggccaaaacgacaaatgtc	12	6	1	0	rs143589546	byFrequency	TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:71509103G>T	ENST00000288177.5	-	6	1602	c.1347C>A	c.(1345-1347)ctC>ctA	p.L449L	AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Silent_p.L449L|ZNF19_ENST00000565100.2_Silent_p.L379L|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565637.1_Silent_p.L407L	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		aaaattctgggaggccaaaac	0.473																																																	0																																										SO:0001819	synonymous_variant	7567			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.1347C>A	16.37:g.71509103G>T			A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L449	ENST00000288177.5	37	c.1347	CCDS10901.1	16																																																																																			ZNF19	-	NULL		0.473	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF19	HGNC	protein_coding	OTTHUMT00000268993.2	G	NM_006961		71509103	-1	no_errors	ENST00000288177	ensembl	human	known	70_37	silent	SNP	0.140	T	T	71509103	G	T	71509103	2	4	162	1	0	0	0	0	0	0	0	1	17785	1161	41	3		3	ZNF19	16	71509103	Silent	SNP	G	TCGA-JW-A852-01A-11D-A351-09	66808689	71509103	18845650	66	30688										
FBXO31	79791	genome.wustl.edu	37	chr16	87376497	87376497	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gctcacctcctgcctcccgcCggacatcctgtggtggtccg	11	18	1	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:87376497C>A	ENST00000311635.7	-	5	730	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	240					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGCCTCCCGCCGGACATCCTG	0.557																																																	0													85	66	72					16																	87376497		2198	4298	6496	SO:0001583	missense	79791			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.718G>T	16.37:g.87376497C>A	ENSP00000310841:p.Gly240Cys		Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.G240C	ENST00000311635.7	37	c.718	CCDS32501.1	16	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419143	0.83559	.	.	ENSG00000103264	ENST00000311635	T	0.68765	-0.35	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76737	-0.2849	10	0.59425	D	0.04	-29.2314	18.518	0.90942	0.0:1.0:0.0:0.0	.	240;132	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	C	240	ENSP00000310841:G240C	ENSP00000310841:G240C	G	-	1	0	FBXO31	85933998	1.000000	0.71417	0.371000	0.25978	0.985000	0.73830	7.617000	0.83032	2.379000	0.81126	0.655000	0.94253	GGC	FBXO31	-	NULL		0.557	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	C	NM_024735		87376497	-1	no_errors	ENST00000311635	ensembl	human	known	70_37	missense	SNP	1.000	A	A	87376497	C	A	87376497	3	1	162	1	0	0	0	0	1	0	0	0	5759	652	23	2	921	2	FBXO31	16	87376497	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	15867394	87376497	2978256	67	30689										
TRAPPC2L	51693	genome.wustl.edu	37	chr16	88923573	88923573	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	cccaagatggcggtgtgcatCgcggtgattgccaaggaggt	16	9	0	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr16:88923573C>G	ENST00000301021.3	+	1	80	c.15C>G	c.(13-15)atC>atG	p.I5M	TRAPPC2L_ENST00000561840.1_5'Flank|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.I5M|TRAPPC2L_ENST00000564365.1_Intron|GALNS_ENST00000565364.1_5'Flank|TRAPPC2L_ENST00000565504.1_Missense_Mutation_p.I5M|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.I5M|GALNS_ENST00000569433.1_5'Flank|GALNS_ENST00000568311.1_5'Flank|GALNS_ENST00000268695.5_5'Flank|TRAPPC2L_ENST00000567895.1_5'UTR|GALNS_ENST00000542788.1_5'Flank			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	5					ER to Golgi vesicle-mediated transport (GO:0006888)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.I5I(1)		lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGGTGTGCATCGCGGTGATTG	0.682																																																	1	Substitution - coding silent(1)	lung(1)											18	23	21					16																	88923573		2188	4290	6478	SO:0001583	missense	51693			BC011369	CCDS10971.1	16q24.3	2008-02-05			ENSG00000167515	ENSG00000167515			30887	protein-coding gene	gene with protein product		610970				11042152	Standard	NM_016209		Approved	HSPC176	uc002fmc.3	Q9UL33	OTTHUMG00000137861	ENST00000301021.3:c.15C>G	16.37:g.88923573C>G	ENSP00000301021:p.Ile5Met		B2R4M9|Q6ZTA7|Q9NZZ4	Missense_Mutation	SNP	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	p.I5M	ENST00000301021.3	37	c.15	CCDS10971.1	16	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803227	0.50315	.	.	ENSG00000167515	ENST00000301021	D	0.84070	-1.8	3.79	-0.512	0.11966	Longin-like (1);	0.185171	0.44688	D	0.000426	T	0.80869	0.4706	M	0.72118	2.19	0.80722	D	1	P;P	0.40107	0.703;0.466	P;B	0.48524	0.58;0.443	T	0.74393	-0.3680	10	0.62326	D	0.03	-38.6589	0.5426	0.00648	0.223:0.1865:0.1731:0.4174	.	5;5	Q9UL33-2;Q9UL33	.;TPC2L_HUMAN	M	5	ENSP00000301021:I5M	ENSP00000301021:I5M	I	+	3	3	TRAPPC2L	87451074	0.894000	0.30519	0.997000	0.53966	0.557000	0.35523	-0.098000	0.11024	0.064000	0.16427	0.313000	0.20887	ATC	TRAPPC2L	-	superfamily_Longin-like_dom		0.682	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC2L	HGNC	protein_coding	OTTHUMT00000269542.1	C	NM_016209		88923573	1	no_errors	ENST00000301021	ensembl	human	known	70_37	missense	SNP	0.996	G	G	88923573	C	G	88923573	3	3	162	1	0	0	0	0	1	0	0	0	16490	874	31	1	17	1	TRAPPC2L	16	88923573	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	1547076	88923573	1431180	68	30690										
RNMTL1	55178	genome.wustl.edu	37	chr17	695084	695084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	cagagttacgactcggactgGacagaggcgccggcagctgt	15	11	0	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:695084G>T	ENST00000304478.4	+	4	1144	c.1038G>T	c.(1036-1038)tgG>tgT	p.W346C	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ACTCGGACTGGACAGAGGCGC	0.572																																																	0													59	62	61					17																	695084		2203	4300	6503	SO:0001583	missense	55178			AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.1038G>T	17.37:g.695084G>T	ENSP00000306080:p.Trp346Cys			Missense_Mutation	SNP	pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd	p.W346C	ENST00000304478.4	37	c.1038	CCDS10997.1	17	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802922	0.70682	.	.	ENSG00000171861	ENST00000304478	T	0.22945	1.93	5.81	5.81	0.92471	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.91920	3.255	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.67829	-0.5569	10	0.54805	T	0.06	-17.5	19.0439	0.93012	0.0:0.0:1.0:0.0	.	346	Q9HC36	RMTL1_HUMAN	C	346	ENSP00000306080:W346C	ENSP00000306080:W346C	W	+	3	0	RNMTL1	641834	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	9.230000	0.95299	2.741000	0.93983	0.591000	0.81541	TGG	RNMTL1	-	pfam_SpoU_MeTrfase		0.572	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMTL1	HGNC	protein_coding	OTTHUMT00000206611.1	G	NM_018146		695084	1	no_errors	ENST00000304478	ensembl	human	known	70_37	missense	SNP	1.000	T	T	695084	G	T	695084	3	4	162	1	0	0	0	0	1	0	0	0	13537	1183	41	3	1052	3	RNMTL1	17	695084	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09		695084	80500126	69	30691										
USP6	9098	genome.wustl.edu	37	chr17	5037191	5037191	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ctgccctacagatcatgaagGagaggggcaagaggtcatct	13	9	3	4			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:5037191G>T	ENST00000574788.1	+	15	2624	c.394G>T	c.(394-396)Gag>Tag	p.E132*	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Nonsense_Mutation_p.E132*|USP6_ENST00000332776.4_Nonsense_Mutation_p.E132*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	132	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GATCATGAAGGAGAGGGGCAA	0.552			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													174	158	164					17																	5037191		2203	4300	6503	SO:0001587	stop_gained	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.394G>T	17.37:g.5037191G>T	ENSP00000460380:p.Glu132*		Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.E132*	ENST00000574788.1	37	c.394	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	48	13.986997	0.99774	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	.	.	.	0.862	0.862	0.19056	.	0.050717	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4	0.16291	0.0:0.0:1.0:0.0	.	.	.	.	X	132	.	ENSP00000250066:E132X	E	+	1	0	USP6	4977915	0.798000	0.28890	0.100000	0.21137	0.101000	0.19017	0.546000	0.23284	0.132000	0.18615	0.134000	0.15878	GAG	USP6	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.552	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	G	NM_004505		5037191	1	no_errors	ENST00000250066	ensembl	human	known	70_37	nonsense	SNP	0.941	T	T	5037191	G	T	5037191	4	4	162	1	0	0	0	0	0	1	0	0	17117	1175	41	3	416	3	USP6	17	5037191	Nonsense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	4342107	5037191	76158019	70	30692										
SPACA3	124912	genome.wustl.edu	37	chr17	31322636	31322636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tctgtctgctcagctgcctgCtaccctccagtgaggccaag	10	15	3	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:31322636C>A	ENST00000269053.3	+	2	314	c.244C>A	c.(244-246)Cta>Ata	p.L82I	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.L13I	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	82					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CAGCTGCCTGCTACCCTCCAG	0.617																																																	0													105	71	83					17																	31322636		2203	4300	6503	SO:0001583	missense	124912			AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.244C>A	17.37:g.31322636C>A	ENSP00000269053:p.Leu82Ile		Q7Z4Y5	Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.L82I	ENST00000269053.3	37	c.244	CCDS11275.1	17	.	.	.	.	.	.	.	.	.	.	c	7.360	0.624581	0.14193	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.68903	-0.36	3.67	1.67	0.24075	.	0.391273	0.22581	N	0.058220	T	0.46112	0.1376	L	0.29908	0.895	0.09310	N	1	P	0.40970	0.734	B	0.35114	0.196	T	0.33240	-0.9876	10	0.42905	T	0.14	-8.199	5.9335	0.19152	0.0:0.7595:0.0:0.2405	.	82	Q8IXA5	SACA3_HUMAN	I	82;83	ENSP00000269053:L82I	ENSP00000269053:L82I	L	+	1	2	SPACA3	28346749	0.648000	0.27313	0.041000	0.18516	0.431000	0.31685	0.880000	0.28159	0.258000	0.21686	0.364000	0.22116	CTA	SPACA3	-	NULL		0.617	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA3	HGNC	protein_coding	OTTHUMT00000256380.1	C	NM_173847		31322636	1	no_errors	ENST00000269053	ensembl	human	known	70_37	missense	SNP	0.042	A	A	31322636	C	A	31322636	3	1	162	1	0	0	0	0	1	0	0	0	15003	796	28	4	250	4	SPACA3	17	31322636	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	26285445	31322636	49872574	71	30693										
C17orf102	400591	genome.wustl.edu	37	chr17	32906120	32906120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gcgcctctggaagagcggctGcaaaacacctccggcgcccg	13	16	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:32906120G>A	ENST00000357754.1	-	1	268	c.180C>T	c.(178-180)tgC>tgT	p.C60C	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	60										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						AAGAGCGGCTGCAAAACACCT	0.657																																																	0													42	50	48					17																	32906120		1869	4080	5949	SO:0001819	synonymous_variant	400591				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.180C>T	17.37:g.32906120G>A			A5PKX0|Q6ZTB3	Silent	SNP	NULL	p.C60	ENST00000357754.1	37	c.180	CCDS42297.1	17																																																																																			C17orf102	-	NULL		0.657	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf102	HGNC	protein_coding	OTTHUMT00000346435.1	G	NM_207454		32906120	-1	no_errors	ENST00000357754	ensembl	human	known	70_37	silent	SNP	0.952	A	A	32906120	G	A	32906120	2	1	162	1	0	0	0	0	0	0	0	1	1853	1311	46	4		4	C17orf102	17	32906120	Silent	SNP	G	TCGA-JW-A852-01A-11D-A351-09	1583484	32906120	48289090	72	30694										
ERBB2	2064	genome.wustl.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	cctttctacggacgtgggatCctgcaccctcgtctgccccc	9	18	2	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251	204	220					17																	37868208		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	C			37868208	1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37868208	C	T	37868208	3	4	162	1	0	0	0	0	1	0	0	0	5218	855	30	1	959	1	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	4962088	37868208	43327002	73	30695										
SKAP1	8631	genome.wustl.edu	37	chr17	46262164	46262164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ttcgcaggtggggggccatcCgtacaccgtagcccttaatg	13	12	0	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:46262164C>T	ENST00000336915.6	-	7	557	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	RP11-456D7.1_ENST00000582246.1_RNA|SKAP1_ENST00000584924.1_Missense_Mutation_p.R163Q	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	163	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGGGGCCATCCGTACACCGTA	0.542																																																	0													128	109	116					17																	46262164		2203	4300	6503	SO:0001583	missense	8631			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.488G>A	17.37:g.46262164C>T	ENSP00000338171:p.Arg163Gln		D3DTV1|O15268	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.R163Q	ENST00000336915.6	37	c.488	CCDS32674.1	17	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814469	0.32053	.	.	ENSG00000141293	ENST00000336915	T	0.75938	-0.98	5.37	4.19	0.49359	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.211232	0.41194	D	0.000939	T	0.49389	0.1554	N	0.11064	0.09	0.37059	D	0.897995	B;B	0.28208	0.078;0.203	B;B	0.12156	0.007;0.007	T	0.52830	-0.8523	10	0.18710	T	0.47	-53.9291	9.4124	0.38500	0.0:0.7783:0.0:0.2217	.	163;163	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	Q	163	ENSP00000338171:R163Q	ENSP00000338171:R163Q	R	-	2	0	SKAP1	43617163	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	1.573000	0.36472	2.509000	0.84616	0.557000	0.71058	CGG	SKAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP1	HGNC	protein_coding	OTTHUMT00000443432.1	C	NM_003726		46262164	-1	no_errors	ENST00000336915	ensembl	human	known	70_37	missense	SNP	0.998	T	T	46262164	C	T	46262164	3	4	162	1	0	0	0	0	1	0	0	0	14385	652	23	2	615	2	SKAP1	17	46262164	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	8393956	46262164	34933046	74	30696										
CLTC	1213	genome.wustl.edu	37	chr17	57741230	57741230	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gttctgaagaactgggtgatCttgtgaaatctgtggaccct	12	7	3	4			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:57741230C>G	ENST00000269122.3	+	9	1670	c.1396C>G	c.(1396-1398)Ctt>Gtt	p.L466V	CLTC_ENST00000393043.1_Missense_Mutation_p.L466V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	466	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACTGGGTGATCTTGTGAAATC	0.418			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													143	133	137					17																	57741230		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1396C>G	17.37:g.57741230C>G	ENSP00000269122:p.Leu466Val		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.L466V	ENST00000269122.3	37	c.1396	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971650	0.53614	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.22945	1.93;1.93	5.38	5.38	0.77491	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.74546	2.27	0.80722	D	1	D;B	0.64830	0.994;0.014	D;B	0.76575	0.988;0.149	T	0.52480	-0.8570	10	0.51188	T	0.08	.	19.4922	0.95054	0.0:1.0:0.0:0.0	.	466;466	Q00610;Q00610-2	CLH1_HUMAN;.	V	466	ENSP00000269122:L466V;ENSP00000376763:L466V	ENSP00000269122:L466V	L	+	1	0	CLTC	55096012	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.011000	0.57124	2.676000	0.91093	0.563000	0.77884	CTT	CLTC	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain		0.418	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	C	NM_004859		57741230	1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57741230	C	G	57741230	3	3	162	1	0	0	0	0	1	0	0	0	3571	913	32	1	1430	1	CLTC	17	57741230	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	11479066	57741230	23453980	75	30697										
USP32	84669	genome.wustl.edu	37	chr17	58303537	58303537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gatgggctgcagttccaaatGagtattttcctccattcaaa	8	9	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:58303537G>A	ENST00000300896.4	-	13	1489	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	USP32_ENST00000592339.1_Missense_Mutation_p.S102L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	432	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTTCCAAATGAGTATTTTCC	0.393																																																	0													112	104	107					17																	58303537		2203	4300	6503	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1295C>T	17.37:g.58303537G>A	ENSP00000300896:p.Ser432Leu		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.S432L	ENST00000300896.4	37	c.1295	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023756	0.19433	.	.	ENSG00000170832	ENST00000300896	T	0.48522	0.81	5.43	3.42	0.39159	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.455403	0.23380	N	0.048809	T	0.24160	0.0585	N	0.08118	0	0.19300	N	0.999975	B	0.06786	0.001	B	0.08055	0.003	T	0.13522	-1.0506	10	0.31617	T	0.26	.	7.0909	0.25283	0.1512:0.1412:0.7076:0.0	.	432	Q8NFA0	UBP32_HUMAN	L	432	ENSP00000300896:S432L	ENSP00000300896:S432L	S	-	2	0	USP32	55658319	0.587000	0.26791	0.616000	0.29078	0.079000	0.17450	3.369000	0.52365	0.650000	0.30769	0.561000	0.74099	TCA	USP32	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.393	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	G	NM_032582		58303537	-1	no_errors	ENST00000300896	ensembl	human	known	70_37	missense	SNP	0.016	A	A	58303537	G	A	58303537	3	1	162	1	0	0	0	0	1	0	0	0	17094	1294	45	1	3607	1	USP32	17	58303537	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	562307	58303537	22891673	76	30698										
HELZ	9931	genome.wustl.edu	37	chr17	65132235	65132235	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tcttccagaagttgctctttCtttttaattggtgtctgttt	7	7	4	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:65132235C>G	ENST00000358691.5	-	23	3199	c.3033G>C	c.(3031-3033)aaG>aaC	p.K1011N	HELZ_ENST00000580168.1_Missense_Mutation_p.K1012N	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1011						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTTGCTCTTTCTTTTTAATTG	0.348																																																	0													100	100	100					17																	65132235		1828	4081	5909	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3033G>C	17.37:g.65132235C>G	ENSP00000351524:p.Lys1011Asn		I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K1011N	ENST00000358691.5	37	c.3033	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468057	0.26335	.	.	ENSG00000198265	ENST00000358691	D	0.83163	-1.69	4.94	4.94	0.65067	.	0.047589	0.85682	D	0.000000	T	0.75398	0.3844	N	0.20986	0.625	0.41002	D	0.984933	P;B	0.48589	0.912;0.022	B;B	0.41135	0.348;0.018	T	0.79191	-0.1905	10	0.46703	T	0.11	-17.7335	18.5448	0.91042	0.0:1.0:0.0:0.0	.	1012;1011	B7ZLW2;P42694	.;HELZ_HUMAN	N	1011	ENSP00000351524:K1011N	ENSP00000351524:K1011N	K	-	3	2	HELZ	62562697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.828000	0.39111	2.447000	0.82792	0.591000	0.81541	AAG	HELZ	-	NULL		0.348	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	C	NM_014877		65132235	-1	no_errors	ENST00000358691	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65132235	C	G	65132235	3	3	162	1	0	0	0	0	1	0	0	0	7069	912	32	1	2839	1	HELZ	17	65132235	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	6828698	65132235	16062975	77	30699										
UBE2O	63893	genome.wustl.edu	37	chr17	74394636	74394636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gtccccagactgtaccacacCgtagacagcagggtctggac	11	14	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:74394636C>T	ENST00000319380.7	-	11	1877	c.1813G>A	c.(1813-1815)Ggt>Agt	p.G605S	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	605					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGTACCACACCGTAGACAGCA	0.592											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													102	85	91					17																	74394636		2203	4300	6503	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1813G>A	17.37:g.74394636C>T	ENSP00000323687:p.Gly605Ser	1152	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G605S	ENST00000319380.7	37	c.1813	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417965	0.83449	.	.	ENSG00000175931	ENST00000319380	D	0.92647	-3.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96169	0.8751	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96359	0.9264	10	0.72032	D	0.01	-22.4308	19.2162	0.93780	0.0:1.0:0.0:0.0	.	605	Q9C0C9	UBE2O_HUMAN	S	605	ENSP00000323687:G605S	ENSP00000323687:G605S	G	-	1	0	UBE2O	71906231	1.000000	0.71417	0.528000	0.27938	0.185000	0.23345	7.763000	0.85283	2.551000	0.86045	0.563000	0.77884	GGT	UBE2O	-	NULL		0.592	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	C	NM_022066		74394636	-1	no_errors	ENST00000319380	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74394636	C	T	74394636	3	4	162	1	0	0	0	0	1	0	0	0	16899	652	23	2	2097	2	UBE2O	17	74394636	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	9262401	74394636	6800574	78	30700										
HEXDC	284004	genome.wustl.edu	37	chr17	80393586	80393586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tctattacctcggagaggggGaggcctcgcgccggtggcta	16	11	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:80393586G>A	ENST00000327949.9	+	5	480	c.469G>A	c.(469-471)Gag>Aag	p.E157K	HEXDC_ENST00000577944.1_Missense_Mutation_p.E157K|HEXDC_ENST00000337014.6_Missense_Mutation_p.E157K			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	157					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGGAGAGGGGGAGGCCTCGCG	0.687																																																	0													45	54	51					17																	80393586		1981	4151	6132	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.469G>A	17.37:g.80393586G>A	ENSP00000332634:p.Glu157Lys		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.E157K	ENST00000327949.9	37	c.469		17	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597613	0.28445	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.95656	-3.77;-3.77	5.72	5.72	0.89469	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.160994	0.56097	D	0.000030	D	0.91606	0.7348	L	0.41573	1.285	0.38931	D	0.957942	P;B	0.45240	0.854;0.113	B;B	0.42112	0.376;0.113	D	0.89566	0.3810	10	0.10111	T	0.7	-43.3631	12.2155	0.54404	0.0772:0.0:0.9228:0.0	.	157;157	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	K	157	ENSP00000337854:E157K;ENSP00000332634:E157K	ENSP00000332634:E157K	E	+	1	0	HEXDC	77986875	1.000000	0.71417	0.841000	0.33234	0.118000	0.20060	3.692000	0.54727	2.684000	0.91462	0.563000	0.77884	GAG	HEXDC	-	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF		0.687	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	G	NM_173620		80393586	1	no_errors	ENST00000337014	ensembl	human	known	70_37	missense	SNP	0.918	A	A	80393586	G	A	80393586	3	1	162	1	0	0	0	0	1	0	0	0	7095	1175	41	1	487	1	HEXDC	17	80393586	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	5998950	80393586	801624	79	30701										
FOXK2	3607	genome.wustl.edu	37	chr17	80543821	80543821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	cagtcttaatcaccgtccagCggcagctaccacaggccatc	8	16	2	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr17:80543821C>T	ENST00000335255.5	+	7	1495	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	RP13-638C3.3_ENST00000575085.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	441					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CACCGTCCAGCGGCAGCTACC	0.562																																																	0													69	58	62					17																	80543821		2197	4288	6485	SO:0001583	missense	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1321C>T	17.37:g.80543821C>T	ENSP00000335677:p.Arg441Trp		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.R441W	ENST00000335255.5	37	c.1321	CCDS11813.1	17	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903977	0.72754	.	.	ENSG00000141568	ENST00000535184;ENST00000335255	D	0.94046	-3.34	5.19	4.21	0.49690	.	0.057254	0.64402	D	0.000001	D	0.94447	0.8213	L	0.46157	1.445	0.44531	D	0.997487	D;D	0.89917	1.0;0.999	D;D	0.67548	0.952;0.944	D	0.94059	0.7325	10	0.49607	T	0.09	.	12.8223	0.57700	0.417:0.583:0.0:0.0	.	441;441	Q01167;Q01167-2	FOXK2_HUMAN;.	W	437;441	ENSP00000335677:R441W	ENSP00000335677:R441W	R	+	1	2	FOXK2	78137110	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.265000	0.51561	1.402000	0.46780	0.655000	0.94253	CGG	FOXK2	-	NULL		0.562	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK2	HGNC	protein_coding	OTTHUMT00000277099.2	C	NM_181430		80543821	1	no_errors	ENST00000335255	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80543821	C	T	80543821	3	4	162	1	0	0	0	0	1	0	0	0	6033	759	27	2	1347	2	FOXK2	17	80543821	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	150235	80543821	651389	80	30702										
RIOK3	8780	genome.wustl.edu	37	chr18	21046196	21046196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aacatgcctactcagaagaaCgtcgaagtgcccgcctacat	8	13	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr18:21046196C>T	ENST00000339486.3	+	6	1260	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	RIOK3_ENST00000581585.1_Missense_Mutation_p.R199C|RIOK3_ENST00000577501.1_Missense_Mutation_p.R215C	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	215					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTCAGAAGAACGTCGAAGTGC	0.343																																																	0													83	81	82					18																	21046196		2203	4300	6503	SO:0001583	missense	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.643C>T	18.37:g.21046196C>T	ENSP00000341874:p.Arg215Cys		Q8IXN9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3	p.R215C	ENST00000339486.3	37	c.643	CCDS11877.1	18	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792640	0.50102	.	.	ENSG00000101782	ENST00000339486	T	0.08720	3.06	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.964;0.978;0.925	T	0.00247	-1.1881	10	0.87932	D	0	-0.0033	20.2508	0.98407	0.0:1.0:0.0:0.0	.	199;215;215	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	C	215	ENSP00000341874:R215C	ENSP00000341874:R215C	R	+	1	0	RIOK3	19300194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.698000	0.61789	2.788000	0.95919	0.585000	0.79938	CGT	RIOK3	-	pirsf_Ser/Thr_kinase_Rio3		0.343	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK3	HGNC	protein_coding	OTTHUMT00000254756.1	C	NM_003831		21046196	1	no_errors	ENST00000339486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21046196	C	T	21046196	3	4	162	1	0	0	0	0	1	0	0	0	13409	536	19	2	665	2	RIOK3	18	21046196	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09		21046196	57031052	81	30703										
C18orf34	374864	genome.wustl.edu	37	chr18	30846981	30846981	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gaaatagctgaaaaatctttTgcaacatcagaaagctcaat	6	7	3	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr18:30846981T>C	ENST00000383096.3	-	14	1490	c.1308A>G	c.(1306-1308)gcA>gcG	p.A436A	CCDC178_ENST00000402325.1_Silent_p.A436A|CCDC178_ENST00000406524.2_Silent_p.A436A|CCDC178_ENST00000583930.1_Silent_p.A436A|CCDC178_ENST00000579947.1_Silent_p.A436A|CCDC178_ENST00000403303.1_Silent_p.A436A|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Silent_p.A436A			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	436																	AAAAATCTTTTGCAACATCAG	0.269																																																	0													47	48	48					18																	30846981		2203	4287	6490	SO:0001819	synonymous_variant	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1308A>G	18.37:g.30846981T>C			A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	NULL	p.A436	ENST00000383096.3	37	c.1308	CCDS42424.1	18																																																																																			CCDC178	-	NULL		0.269	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	T	NM_198995		30846981	-1	no_errors	ENST00000406524	ensembl	human	known	70_37	silent	SNP	0.652	C	C	30846981	T	C	30846981	2	2	162	1	0	0	0	0	0	0	0	1	1907	1799	63	5		5	C18orf34	18	30846981	Silent	SNP	T	TCGA-JW-A852-01A-11D-A351-09	9800785	30846981	47230267	82	30704										
WDR7	23335	genome.wustl.edu	37	chr18	54694411	54694411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gtcatcctcatggcccatgaCgggaaggagcaccgcttcat	11	13	3	1	rs142769689	byFrequency	TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr18:54694411C>T	ENST00000254442.3	+	28	4657	c.4446C>T	c.(4444-4446)gaC>gaT	p.D1482D	WDR7_ENST00000589935.1_Silent_p.D59D|WDR7-UT1_ENST00000592032.1_RNA|WDR7_ENST00000357574.3_Silent_p.D1449D	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1482					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGGCCCATGACGGGAAGGAGC	0.597																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	34	28	30		4446,4347	-1.3	1	18	dbSNP_134	30	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous	WDR7	NM_015285.2,NM_052834.2	,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,	1482/1491,1449/1458	54694411	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4446C>T	18.37:g.54694411C>T			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1482	ENST00000254442.3	37	c.4446	CCDS11962.1	18																																																																																			WDR7	-	NULL		0.597	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	C			54694411	1	no_errors	ENST00000254442	ensembl	human	known	70_37	silent	SNP	0.987	T	T	54694411	C	T	54694411	2	4	162	1	0	0	0	0	0	0	0	1	17351	535	19	2		2	WDR7	18	54694411	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	23847430	54694411	23382837	83	30705										
NETO1	81832	genome.wustl.edu	37	chr18	70461384	70461384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aggtgctcggatgtaccactTgcaatcaacagcctcgctag	10	12	1	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr18:70461384T>C	ENST00000327305.6	-	6	1264	c.607A>G	c.(607-609)Aag>Gag	p.K203E	NETO1_ENST00000299430.2_Missense_Mutation_p.K202E|NETO1_ENST00000583169.1_Missense_Mutation_p.K203E	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	203	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGTACCACTTGCAATCAACA	0.463																																																	0													211	180	190					18																	70461384		2203	4300	6503	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.607A>G	18.37:g.70461384T>C	ENSP00000313088:p.Lys203Glu		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.K203E	ENST00000327305.6	37	c.607	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685801	0.68157	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.30714	1.52;1.52	5.29	5.29	0.74685	CUB (5);	0.000000	0.64402	D	0.000006	T	0.47002	0.1422	L	0.40543	1.245	0.80722	D	1	D;B	0.67145	0.996;0.272	D;B	0.76071	0.987;0.143	T	0.44081	-0.9351	10	0.56958	D	0.05	-12.2207	15.2261	0.73352	0.0:0.0:0.0:1.0	.	202;203	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	E	203;202	ENSP00000313088:K203E;ENSP00000299430:K202E	ENSP00000299430:K202E	K	-	1	0	NETO1	68612364	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.698000	0.84413	1.993000	0.58246	0.533000	0.62120	AAG	NETO1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	T	NM_138999		70461384	-1	no_errors	ENST00000327305	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70461384	T	C	70461384	3	2	162	1	0	0	0	0	1	0	0	0	10363	1821	63	5	1014	5	NETO1	18	70461384	Missense_Mutation	SNP	T	TCGA-JW-A852-01A-11D-A351-09	15766973	70461384	7615864	84	30706										
ZFR2	23217	genome.wustl.edu	37	chr19	3822092	3822092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gacgcacccggtactgcagcCggtgccgccgccccctcacg	12	20	1	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:3822092C>T	ENST00000262961.4	-	9	1488	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	493							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTACTGCAGCCGGTGCCGCCG	0.692																																																	0													19	22	21					19																	3822092		1971	4135	6106	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1478G>A	19.37:g.3822092C>T	ENSP00000262961:p.Arg493Gln			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.R493Q	ENST00000262961.4	37	c.1478	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.150783	0.94645	.	.	ENSG00000105278	ENST00000262961	T	0.44881	0.91	3.54	3.54	0.40534	Zinc finger, U1-type (1);	0.000000	0.64402	U	0.000017	T	0.66896	0.2836	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74169	-0.3752	10	0.87932	D	0	-33.0285	12.6452	0.56731	0.0:1.0:0.0:0.0	.	493	Q9UPR6	ZFR2_HUMAN	Q	493	ENSP00000262961:R493Q	ENSP00000262961:R493Q	R	-	2	0	ZFR2	3773092	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.234000	0.65343	1.809000	0.52856	0.462000	0.41574	CGG	ZFR2	-	smart_Znf_U1		0.692	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	C	NM_015174		3822092	-1	no_errors	ENST00000262961	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3822092	C	T	3822092	3	4	162	1	0	0	0	0	1	0	0	0	17690	652	23	2	1385	2	ZFR2	19	3822092	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09		3822092	55306891	85	30707										
MUC16	94025	genome.wustl.edu	37	chr19	9043453	9043453	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ggtggagatccaggaccgatGgttataacctgcagagagag	15	7	0	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:9043453G>T	ENST00000397910.4	-	6	36279	c.36076C>A	c.(36076-36078)Cat>Aat	p.H12026N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12028	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGACCGATGGTTATAACCT	0.512																																																	0													65	66	66					19																	9043453		1948	4122	6070	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36076C>A	19.37:g.9043453G>T	ENSP00000381008:p.His12026Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.H12026N	ENST00000397910.4	37	c.36076	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.825	-0.747423	0.03065	.	.	ENSG00000181143	ENST00000397910	T	0.01963	4.53	2.98	0.743	0.18347	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	.	.	.	D	0.54964	0.969	P	0.52758	0.708	T	0.48822	-0.9001	8	0.87932	D	0	.	5.4881	0.16761	0.2714:0.0:0.7286:0.0	.	12026	B5ME49	.	N	12026	ENSP00000381008:H12026N	ENSP00000381008:H12026N	H	-	1	0	MUC16	8904453	0.491000	0.26019	0.752000	0.31206	0.068000	0.16541	0.236000	0.17967	0.317000	0.23160	0.389000	0.25775	CAT	MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9043453	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.782	T	T	9043453	G	T	9043453	3	4	162	1	0	0	0	0	1	0	0	0	9996	1348	47	4	7763	4	MUC16	19	9043453	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	5221361	9043453	50085530	86	30708										
DNMT1	1786	genome.wustl.edu	37	chr19	10273368	10273368	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	catcctcgtctttttcatcaGaaatctgtggatttactttt	5	9	4	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:10273368G>A	ENST00000340748.4	-	12	1170	c.935C>T	c.(934-936)tCt>tTt	p.S312F	DNMT1_ENST00000540357.1_Missense_Mutation_p.S312F|DNMT1_ENST00000359526.4_Missense_Mutation_p.S328F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	312	Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTTTTCATCAGAAATCTGTGG	0.413																																																	0													134	133	134					19																	10273368		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.935C>T	19.37:g.10273368G>A	ENSP00000345739:p.Ser312Phe		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.S328F	ENST00000340748.4	37	c.983	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	g	12.90	2.076515	0.36662	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.80909	-1.43;-1.43;-1.43	4.22	4.22	0.49857	.	0.551255	0.18081	N	0.152281	T	0.73481	0.3592	L	0.38175	1.15	0.09310	N	1	P;B;B	0.36315	0.547;0.178;0.412	B;B;B	0.37888	0.26;0.074;0.259	T	0.69217	-0.5203	10	0.59425	D	0.04	.	12.3897	0.55352	0.0:0.0:1.0:0.0	.	312;328;312	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	F	328;312;312;180	ENSP00000352516:S328F;ENSP00000440457:S312F;ENSP00000345739:S312F	ENSP00000345739:S312F	S	-	2	0	DNMT1	10134368	0.367000	0.25023	0.055000	0.19348	0.057000	0.15508	3.543000	0.53633	2.644000	0.89710	0.542000	0.68232	TCT	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk		0.413	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	G	NM_001379		10273368	-1	no_errors	ENST00000359526	ensembl	human	known	70_37	missense	SNP	0.064	A	A	10273368	G	A	10273368	3	1	162	1	0	0	0	0	1	0	0	0	4685	942	33	1	4031	1	DNMT1	19	10273368	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	1229915	10273368	48855615	87	30709										
ZNF799	90576	genome.wustl.edu	37	chr19	12502496	12502496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ttctttcatgtcttagatagGaactgtaaaaagaaaaggct	8	5	3	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:12502496G>T	ENST00000430385.3	-	4	916	c.716C>A	c.(715-717)tCc>tAc	p.S239Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.S207Y	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCTTAGATAGGAACTGTAAAA	0.368																																																	0													70	80	76					19																	12502496		2201	4295	6496	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.716C>A	19.37:g.12502496G>T	ENSP00000411084:p.Ser239Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S239Y	ENST00000430385.3	37	c.716	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517340	0.27123	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.16073	2.37;2.37	1.14	-0.03	0.13916	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.39397	1.21	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.16988	-1.0384	9	0.29301	T	0.29	.	5.0043	0.14280	0.0:0.3856:0.6144:0.0	.	239	Q96GE5	ZN799_HUMAN	Y	207;239	ENSP00000415278:S207Y;ENSP00000411084:S239Y	ENSP00000415278:S207Y	S	-	2	0	ZNF799	12363496	0.000000	0.05858	0.001000	0.08648	0.268000	0.26511	-3.035000	0.00635	0.036000	0.15547	0.195000	0.17529	TCC	ZNF799	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	G	NM_001080821		12502496	-1	no_errors	ENST00000430385	ensembl	human	known	70_37	missense	SNP	0.001	T	T	12502496	G	T	12502496	3	4	162	1	0	0	0	0	1	0	0	0	18196	1174	41	3	1219	3	ZNF799	19	12502496	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	2229128	12502496	46626487	88	30710										
AP1M1	8907	genome.wustl.edu	37	chr19	16317185	16317185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	caagaagaacgcgtgcgtgtCgctggtcttttctttcctct	10	11	3	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:16317185C>T	ENST00000291439.3	+	3	682	c.233C>T	c.(232-234)tCg>tTg	p.S78L	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.S78L|AP1M1_ENST00000444449.2_Missense_Mutation_p.S78L|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	78					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GCGTGCGTGTCGCTGGTCTTT	0.582																																																	0													290	259	270					19																	16317185		2203	4300	6503	SO:0001583	missense	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.233C>T	19.37:g.16317185C>T	ENSP00000291439:p.Ser78Leu		Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.S78L	ENST00000291439.3	37	c.233	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443875	0.25987	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.61859	0.69;0.67;0.07	4.1	4.1	0.47936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.38733	1.17	0.80722	D	1	B;B;B	0.29805	0.006;0.257;0.257	B;B;B	0.31751	0.009;0.094;0.135	T	0.54840	-0.8233	10	0.54805	T	0.06	-15.886	14.9163	0.70801	0.0:1.0:0.0:0.0	.	78;78;78	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	L	78	ENSP00000388996:S78L;ENSP00000291439:S78L;ENSP00000411498:S78L	ENSP00000291439:S78L	S	+	2	0	AP1M1	16178185	0.998000	0.40836	0.254000	0.24359	0.003000	0.03518	4.515000	0.60489	1.852000	0.53769	0.655000	0.94253	TCG	AP1M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu		0.582	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	C	NM_032493		16317185	1	no_errors	ENST00000444449	ensembl	human	known	70_37	missense	SNP	0.999	T	T	16317185	C	T	16317185	3	4	162	1	0	0	0	0	1	0	0	0	734	893	31	1	243	1	AP1M1	19	16317185	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	3814689	16317185	42811798	89	30711										
ZNF91	7644	genome.wustl.edu	37	chr19	23544220	23544220	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aaaagctttgccacattcttCaaatttgtagggtttctctc	6	9	3	0	rs12976753		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:23544220C>T	ENST00000300619.7	-	4	1766	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	ZNF91_ENST00000397082.2_Missense_Mutation_p.E489K|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	521			E -> K (in dbSNP:rs12976753).		transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTCAAATTTGTAG	0.353																																																	0													40	43	42					19																	23544220		2067	4235	6302	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1561G>A	19.37:g.23544220C>T	ENSP00000300619:p.Glu521Lys		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E521K	ENST00000300619.7	37	c.1561	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.141096	0.00332	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16597	2.33;2.33	1.71	-3.43	0.04810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.03930	-0.32	0.09310	N	1	P;B	0.36048	0.534;0.011	B;B	0.29353	0.101;0.004	T	0.25847	-1.0120	9	0.02654	T	1	.	1.0515	0.01581	0.1555:0.1481:0.3116:0.3848	rs12976753;rs12976753	489;521	Q05481-2;Q05481	.;ZNF91_HUMAN	K	521;489	ENSP00000300619:E521K;ENSP00000380272:E489K	ENSP00000300619:E521K	E	-	1	0	ZNF91	23336060	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.330000	0.01110	-1.684000	0.01443	-1.088000	0.02184	GAA	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	C	NM_003430		23544220	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.004	T	T	23544220	C	T	23544220	3	4	162	1	0	0	0	0	1	0	0	0	18230	835	29	1	2018	1	ZNF91	19	23544220	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	7227035	23544220	35584763	90	30712										
LMTK3	114783	genome.wustl.edu	37	chr19	49000803	49000803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tggggccccgggctctccctCgggggccacctccggcctgg	16	18	1	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:49000803C>T	ENST00000600059.1	-	11	3750	c.3523G>A	c.(3523-3525)Gag>Aag	p.E1175K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1204K			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1175	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCTCTCCCTCGGGGGCCACC	0.776																																																	0													7	9	8					19																	49000803		1794	3963	5757	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3523G>A	19.37:g.49000803C>T	ENSP00000472020:p.Glu1175Lys		Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1204K	ENST00000600059.1	37	c.3610		19	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755032	0.31046	.	.	ENSG00000142235	ENST00000270238	T	0.78481	-1.18	3.67	3.67	0.42095	.	0.200508	0.30060	N	0.010520	T	0.53626	0.1808	N	0.19112	0.55	0.25218	N	0.989925	P	0.44195	0.828	B	0.25140	0.058	T	0.54248	-0.8322	10	0.40728	T	0.16	.	9.345	0.38102	0.0:0.7799:0.22:0.0	.	1175	Q96Q04	LMTK3_HUMAN	K	1204	ENSP00000270238:E1204K	ENSP00000270238:E1204K	E	-	1	0	LMTK3	53692615	0.903000	0.30736	0.982000	0.44146	0.065000	0.16274	0.769000	0.26604	2.063000	0.61619	0.462000	0.41574	GAG	LMTK3	-	smart_Ser/Thr_dual-sp_kinase_dom		0.776	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	C	NM_052895		49000803	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	0.993	T	T	49000803	C	T	49000803	3	4	162	1	0	0	0	0	1	0	0	0	8881	893	31	1	879	1	LMTK3	19	49000803	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	25456583	49000803	10128180	91	30713										
SIGLEC8	27181	genome.wustl.edu	37	chr19	51961226	51961226	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gctgcttagttttgtaattcAactgtgatttgtaactccat	7	7	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:51961226A>T	ENST00000321424.3	-	1	482	c.416T>A	c.(415-417)tTg>tAg	p.L139*	SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.L139*|SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.L139*|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	139					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTGTAATTCAACTGTGATTT	0.512																																																	0													116	119	118					19																	51961226		2203	4300	6503	SO:0001587	stop_gained	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.416T>A	19.37:g.51961226A>T	ENSP00000321077:p.Leu139*		Q7Z728	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L139*	ENST00000321424.3	37	c.416	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	14.07	2.425027	0.43020	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	.	.	.	1.22	-2.44	0.06502	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	2.1209	0.03725	0.3741:0.3372:0.2887:0.0	.	.	.	.	X	139	.	ENSP00000321077:L139X	L	-	2	0	SIGLEC8	56653038	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.867000	0.04241	-0.287000	0.09064	0.327000	0.21459	TTG	SIGLEC8	-	smart_Ig_sub		0.512	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	A	NM_014442		51961226	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	51961226	A	T	51961226	4	4	162	1	0	0	0	0	0	1	0	0	14344	131	5	5	1111	5	SIGLEC8	19	51961226	Nonsense_Mutation	SNP	A	TCGA-JW-A852-01A-11D-A351-09	2960423	51961226	7167757	92	30714										
ZNF415	55786	genome.wustl.edu	37	chr19	53612316	53612316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gccacactctttacatgtgtAaggtttctctccaatatgag	7	10	2	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:53612316A>G	ENST00000500065.4	-	4	1315	c.982T>C	c.(982-984)Tac>Cac	p.Y328H	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.Y98H|ZNF415_ENST00000455735.2_Missense_Mutation_p.Y376H|ZNF415_ENST00000448501.1_Missense_Mutation_p.Y376H|ZNF415_ENST00000243643.4_Missense_Mutation_p.Y328H|ZNF415_ENST00000440291.1_Missense_Mutation_p.Y315H|ZNF415_ENST00000421033.1_Missense_Mutation_p.Y340H	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TTACATGTGTAAGGTTTCTCT	0.398																																																	0													83	76	78					19																	53612316		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.982T>C	19.37:g.53612316A>G	ENSP00000439435:p.Tyr328His		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.Y376H	ENST00000500065.4	37	c.1126	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544100	0.45280	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	2.78	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28962	0.0719	N	0.25957	0.775	0.09310	N	1	B;D;B;D;B;D	0.71674	0.115;0.998;0.084;0.989;0.115;0.993	B;D;B;D;B;D	0.85130	0.119;0.997;0.095;0.935;0.119;0.993	T	0.09378	-1.0677	9	0.87932	D	0	.	6.9546	0.24563	0.879:0.0:0.121:0.0	.	328;376;376;328;315;340	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	H	328;328;376;340;376;315	ENSP00000243643:Y328H;ENSP00000439435:Y328H;ENSP00000396492:Y376H;ENSP00000395055:Y340H;ENSP00000388787:Y376H;ENSP00000414601:Y315H	ENSP00000243643:Y328H	Y	-	1	0	ZNF415	58304128	0.001000	0.12720	0.004000	0.12327	0.317000	0.28152	1.600000	0.36762	0.309000	0.22966	0.402000	0.26972	TAC	ZNF415	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	A	NM_018355		53612316	-1	no_errors	ENST00000448501	ensembl	human	known	70_37	missense	SNP	0.008	G	G	53612316	A	G	53612316	3	3	162	1	0	0	0	0	1	0	0	0	17922	362	13	5	689	5	ZNF415	19	53612316	Missense_Mutation	SNP	A	TCGA-JW-A852-01A-11D-A351-09	1651090	53612316	5516667	93	30715										
SLC27A5	10998	genome.wustl.edu	37	chr19	59021339	59021339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	tcttgctcatctgcagtaccCgctcatgcgtgaggatggct	11	12	4	1	rs371102258		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr19:59021339C>T	ENST00000263093.2	-	3	1041	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R227Q	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	311					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTGCAGTACCCGCTCATGCGT	0.582																																																	0													156	106	123					19																	59021339		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.932G>A	19.37:g.59021339C>T	ENSP00000263093:p.Arg311Gln		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R311Q	ENST00000263093.2	37	c.932	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	5.681	0.310176	0.10733	.	.	ENSG00000083807	ENST00000263093	T	0.48522	0.81	4.71	-2.58	0.06228	AMP-dependent synthetase/ligase (1);	1.147830	0.06728	N	0.776179	T	0.50837	0.1639	M	0.68952	2.095	0.09310	N	1	D	0.54397	0.966	P	0.49953	0.627	T	0.52660	-0.8546	10	0.32370	T	0.25	-8.8258	8.7394	0.34547	0.0:0.3454:0.0:0.6546	.	311	Q9Y2P5	S27A5_HUMAN	Q	311	ENSP00000263093:R311Q	ENSP00000263093:R311Q	R	-	2	0	SLC27A5	63713151	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	0.044000	0.13992	-0.218000	0.10018	-0.350000	0.07774	CGG	SLC27A5	-	pfam_AMP-dep_Synth/Lig		0.582	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59021339	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	0.000	T	T	59021339	C	T	59021339	3	4	162	1	0	0	0	0	1	0	0	0	14559	652	23	2	1172	2	SLC27A5	19	59021339	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	5409023	59021339	107644	94	30716										
VPS16	64601	genome.wustl.edu	37	chr20	2845015	2845015	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ccttactctcctgcagtgttCacggtgttgctgcacctgaa	9	13	2	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr20:2845015C>T	ENST00000380445.3	+	18	1797	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	VPS16_ENST00000380469.3_Silent_p.F431F|VPS16_ENST00000380443.3_Silent_p.F261F|PTPRA_ENST00000380393.3_5'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	575					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTGCAGTGTTCACGGTGTTGC	0.587																																																	0													78	73	75					20																	2845015		2203	4300	6503	SO:0001819	synonymous_variant	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1725C>T	20.37:g.2845015C>T			Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.F575	ENST00000380445.3	37	c.1725	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_C,pirsf_VPS16		0.587	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	C	NM_022575		2845015	1	no_errors	ENST00000380445	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2845015	C	T	2845015	2	4	162	1	0	0	0	0	0	0	0	1	17224	825	29	1		1	VPS16	20	2845015	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09		2845015	60180505	95	30717										
PFDN4	5203	genome.wustl.edu	37	chr20	52835609	52835609	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	aatccagagtggaatcaattCagcgagtgttagcagatttg	11	6	2	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr20:52835609C>T	ENST00000371419.2	+	4	579	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	109					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GGAATCAATTCAGCGAGTGTT	0.299																																																	0													42	42	42					20																	52835609		2199	4299	6498	SO:0001587	stop_gained	5203			U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"prefoldin 4"			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.325C>T	20.37:g.52835609C>T	ENSP00000360473:p.Gln109*		Q5TD11|Q92779	Nonsense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_Prefoldin_su-4	p.Q109*	ENST00000371419.2	37	c.325	CCDS13445.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018430	0.75275	.	.	ENSG00000101132	ENST00000371419	.	.	.	5.58	5.58	0.84498	.	0.054000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-6.7836	18.9044	0.92454	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000360473:Q109X	Q	+	1	0	PFDN4	52269016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.328000	0.59253	2.786000	0.95864	0.655000	0.94253	CAG	PFDN4	-	pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_Prefoldin_su-4		0.299	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN4	HGNC	protein_coding	OTTHUMT00000079771.2	C	NM_002623		52835609	1	no_errors	ENST00000441080	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	52835609	C	T	52835609	4	4	162	1	0	0	0	0	0	1	0	0	11781	827	29	1	339	1	PFDN4	20	52835609	Nonsense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	49990594	52835609	10189911	96	30718										
GART	2618	genome.wustl.edu	37	chr21	34878376	34878376	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ttgtgcagagctatttggttCccgagtactgtctataagtg	11	7	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr21:34878376C>G	ENST00000381831.3	-	19	2751	c.2488G>C	c.(2488-2490)Gaa>Caa	p.E830Q	GART_ENST00000543717.1_Missense_Mutation_p.E382Q|GART_ENST00000381839.3_Missense_Mutation_p.E830Q|GART_ENST00000381815.4_Missense_Mutation_p.E830Q	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	830	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CTATTTGGTTCCCGAGTACTG	0.423																																																	0													118	108	111					21																	34878376		2203	4300	6503	SO:0001583	missense	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2488G>C	21.37:g.34878376C>G	ENSP00000371253:p.Glu830Gln		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.E830Q	ENST00000381831.3	37	c.2488	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	C	8.251	0.809015	0.16537	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	6.17	5.28	0.74379	Formyl transferase, N-terminal (3);	0.615715	0.18920	N	0.127519	T	0.58595	0.2133	L	0.28458	0.855	0.19300	N	0.99998	B	0.10296	0.003	B	0.12837	0.008	T	0.46693	-0.9173	10	0.37606	T	0.19	-9.7432	3.988	0.09524	0.1642:0.5796:0.1587:0.0976	.	830	P22102	PUR2_HUMAN	Q	94;830;830;830;382	ENSP00000371236:E830Q;ENSP00000371253:E830Q;ENSP00000371261:E830Q;ENSP00000443579:E382Q	ENSP00000371236:E830Q	E	-	1	0	GART	33800246	0.048000	0.20356	0.012000	0.15200	0.089000	0.18198	0.965000	0.29319	1.586000	0.49944	0.655000	0.94253	GAA	GART	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans		0.423	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	C	NM_000819		34878376	-1	no_errors	ENST00000381815	ensembl	human	known	70_37	missense	SNP	0.004	G	G	34878376	C	G	34878376	3	3	162	1	0	0	0	0	1	0	0	0	6262	864	30	1	560	1	GART	21	34878376	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09		34878376	13251519	97	30719										
COL6A2	1292	genome.wustl.edu	37	chr21	47552113	47552113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	acaacctcacggccatccacGaggcgctggagaccacacaa	9	16	1	1	rs373611722		TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr21:47552113G>A	ENST00000300527.4	+	28	2811	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	903	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCCATCCACGAGGCGCTGGA	0.682																																																	0								G	LYS/GLU	1,4361		0,1,2180	16	15	16		2707	1.9	1	21		16	1,8573		0,1,4286	no	missense	COL6A2	NM_001849.3	56	0,2,6466	AA,AG,GG		0.0117,0.0229,0.0155	benign	903/1020	47552113	2,12934	2181	4287	6468	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2707G>A	21.37:g.47552113G>A	ENSP00000300527:p.Glu903Lys		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E903K	ENST00000300527.4	37	c.2707	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	8.613	0.889669	0.17540	2.29E-4	1.17E-4	ENSG00000142173	ENST00000300527	T	0.77620	-1.11	4.18	1.92	0.25849	von Willebrand factor, type A (3);	0.523072	0.20834	U	0.084828	T	0.56717	0.2004	L	0.33485	1.01	0.58432	D	0.999991	P	0.40660	0.726	B	0.35470	0.203	T	0.54689	-0.8256	10	0.07175	T	0.84	-20.549	6.4858	0.22087	0.1654:0.3132:0.5214:0.0	.	903	P12110	CO6A2_HUMAN	K	903	ENSP00000300527:E903K	ENSP00000300527:E903K	E	+	1	0	COL6A2	46376541	0.723000	0.28027	0.998000	0.56505	0.318000	0.28184	1.030000	0.30153	0.734000	0.32515	0.313000	0.20887	GAG	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	G			47552113	1	no_errors	ENST00000300527	ensembl	human	known	70_37	missense	SNP	0.713	A	A	47552113	G	A	47552113	3	1	162	1	0	0	0	0	1	0	0	0	3705	1059	37	1	3143	1	COL6A2	21	47552113	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	12673737	47552113	577782	98	30720										
CECR2	27443	genome.wustl.edu	37	chr22	18020198	18020198	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gacacagatgaagaattttgGattcgagaggatgaaaagcg	13	4	0	5			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:18020198G>A	ENST00000400585.2	+	14	1542	c.1104G>A	c.(1102-1104)tgG>tgA	p.W368*	CECR2_ENST00000400573.5_Nonsense_Mutation_p.W509*|CECR2_ENST00000262608.8_Nonsense_Mutation_p.W510*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	551					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AAGAATTTTGGATTCGAGAGG	0.493																																																	0													33	37	36					22																	18020198		1899	4119	6018	SO:0001587	stop_gained	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1104G>A	22.37:g.18020198G>A	ENSP00000383428:p.Trp368*		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.W509*	ENST00000400585.2	37	c.1527		22	.	.	.	.	.	.	.	.	.	.	G	37	6.476378	0.97598	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.95	5.95	0.96441	.	0.000000	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-14.7427	20.3719	0.98893	0.0:0.0:1.0:0.0	.	.	.	.	X	368;509;510	.	ENSP00000262608:W510X	W	+	3	0	CECR2	16400198	1.000000	0.71417	0.987000	0.45799	0.877000	0.50540	4.613000	0.61176	2.826000	0.97356	0.491000	0.48974	TGG	CECR2	-	NULL		0.493	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		18020198	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	nonsense	SNP	1.000	A	A	18020198	G	A	18020198	4	1	162	1	0	0	0	0	0	1	0	0	3211	1183	41	1	1579	1	CECR2	22	18020198	Nonsense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09		18020198	33284368	99	30721										
FOXRED2	80020	genome.wustl.edu	37	chr22	36886250	36886250	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ctcacgagtccctgcatcctCaggtacccctgctggcaaaa	8	16	2	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:36886250C>G	ENST00000397224.4	-	9	1953	c.1860G>C	c.(1858-1860)ctG>ctC	p.L620L	FOXRED2_ENST00000397223.4_Silent_p.L620L|FOXRED2_ENST00000216187.6_Silent_p.L620L|FOXRED2_ENST00000366463.3_Silent_p.L172L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	620					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTGCATCCTCAGGTACCCCT	0.597																																																	0													113	116	115					22																	36886250		2203	4300	6503	SO:0001819	synonymous_variant	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1860G>C	22.37:g.36886250C>G			B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.L620	ENST00000397224.4	37	c.1860	CCDS13929.1	22																																																																																			FOXRED2	-	NULL		0.597	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	C	NM_024955		36886250	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	silent	SNP	0.642	G	G	36886250	C	G	36886250	2	3	162	1	0	0	0	0	0	0	0	1	6052	813	29	1		1	FOXRED2	22	36886250	Silent	SNP	C	TCGA-JW-A852-01A-11D-A351-09	18866052	36886250	14418316	100	30722										
NPTXR	23467	genome.wustl.edu	37	chr22	39219171	39219171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	accggagccctgcagctcccCgtcctggtaggcagaccata	11	16	0	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:39219171C>T	ENST00000333039.2	-	4	1318	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	399	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGCTCCCCGTCCTGGTAG	0.627																																					Pancreas(139;2521 3281 36965)												0													90	75	80					22																	39219171		2203	4300	6503	SO:0001583	missense	23467			AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1195G>A	22.37:g.39219171C>T	ENSP00000327545:p.Gly399Arg			Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.G399R	ENST00000333039.2	37	c.1195	CCDS33647.1	22	.	.	.	.	.	.	.	.	.	.	c	26.8	4.773699	0.90108	.	.	ENSG00000221890	ENST00000333039	T	0.79845	-1.31	4.16	4.16	0.48862	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.059834	0.64402	D	0.000003	D	0.90752	0.7097	M	0.86420	2.815	0.36941	D	0.892371	D	0.89917	1.0	D	0.97110	1.0	D	0.92748	0.6213	9	0.87932	D	0	-38.0557	17.0244	0.86441	0.0:1.0:0.0:0.0	.	399	O95502	NPTXR_HUMAN	R	399	ENSP00000327545:G399R	ENSP00000327545:G399R	G	-	1	0	NPTXR	37549117	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.642000	0.83385	2.307000	0.77673	0.558000	0.71614	GGG	NPTXR	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.627	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	HGNC	protein_coding	OTTHUMT00000318194.2	C	NM_014293		39219171	-1	no_errors	ENST00000333039	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39219171	C	T	39219171	3	4	162	1	0	0	0	0	1	0	0	0	10628	652	23	2	315	2	NPTXR	22	39219171	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	2332921	39219171	12085395	101	30723										
EP300	2033	genome.wustl.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	gagtatacatatcttacctcGatagtgttcatttcttccgt	6	9	3	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	7	Substitution - Missense(7)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)											98	93	95					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1399N	ENST00000263253.7	37	c.4195	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41565529	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41565529	G	A	41565529	3	1	162	1	0	0	0	0	1	0	0	0	5160	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	2346358	41565529	9739037	102	30724										
USP9X	8239	genome.wustl.edu	37	chrX	41043695	41043695	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ctggtgcacctctggctgatGattcctctgattttcagttt	9	10	3	3			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:41043695G>A	ENST00000324545.8	+	23	3958	c.3325G>A	c.(3325-3327)Gat>Aat	p.D1109N	USP9X_ENST00000378308.2_Missense_Mutation_p.D1109N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1109					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCTGGCTGATGATTCCTCTGA	0.413																																					Ovarian(172;1807 2695 35459 49286)												0													134	120	125					X																	41043695		2125	4255	6380	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3325G>A	X.37:g.41043695G>A	ENSP00000316357:p.Asp1109Asn		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.D1109N	ENST00000324545.8	37	c.3325	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959109	0.74016	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.15718	2.4;2.4	5.8	5.8	0.92144	.	0.088669	0.85682	D	0.000000	T	0.15003	0.0362	N	0.22421	0.69	0.80722	D	1	B;B	0.20988	0.05;0.029	B;B	0.20384	0.029;0.021	T	0.05852	-1.0860	10	0.32370	T	0.25	.	18.9822	0.92758	0.0:0.0:1.0:0.0	.	1109;1109	Q93008-1;Q93008	.;USP9X_HUMAN	N	1109	ENSP00000367558:D1109N;ENSP00000316357:D1109N	ENSP00000316357:D1109N	D	+	1	0	USP9X	40928639	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.750000	0.98875	2.431000	0.82371	0.513000	0.50165	GAT	USP9X	-	NULL		0.413	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		41043695	1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41043695	G	A	41043695	3	1	162	1	0	0	0	0	1	0	0	0	17121	1290	45	1	3411	1	USP9X	23	41043695	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09		41043695	114226865	103	30725										
ZXDB	158586	genome.wustl.edu	37	chrX	57619632	57619632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	caaactcagcgcccaccagcGcagccacttcgaaccggaga	9	17	1	1			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:57619632G>A	ENST00000374888.1	+	1	1364	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	384	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCCCACCAGCGCAGCCACTTC	0.567																																																	0													92	81	85					X																	57619632		2203	4300	6503	SO:0001583	missense	158586			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1151G>A	X.37:g.57619632G>A	ENSP00000364023:p.Arg384His		A8K151|Q9UBB3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R384H	ENST00000374888.1	37	c.1151	CCDS35313.1	X	.	.	.	.	.	.	.	.	.	.	.	20.9	4.064798	0.76187	.	.	ENSG00000198455	ENST00000374888	T	0.58506	0.33	3.44	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.77040	-0.2735	10	0.87932	D	0	.	11.9171	0.52771	0.0:0.0:1.0:0.0	.	384	P98169	ZXDB_HUMAN	H	384	ENSP00000364023:R384H	ENSP00000364023:R384H	R	+	2	0	ZXDB	57636357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.114000	0.77103	1.737000	0.51674	0.483000	0.47432	CGC	ZXDB	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.567	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	G	NM_007157		57619632	1	no_errors	ENST00000374888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57619632	G	A	57619632	3	1	162	1	0	0	0	0	1	0	0	0	18281	1087	38	2	1153	2	ZXDB	23	57619632	Missense_Mutation	SNP	G	TCGA-JW-A852-01A-11D-A351-09	16575937	57619632	97650928	104	30726										
ODZ1	10178	genome.wustl.edu	37	chrX	123699264	123699264	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ctcccatccagggctacactCacattttccatctttgcatt	4	15	2	0			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:123699264C>G	ENST00000371130.3	-	12	2287	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q	TENM1_ENST00000422452.2_Missense_Mutation_p.E742Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	742	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGCTACACTCACATTTTCCA	0.458																																																	0													172	120	137					X																	123699264		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2224G>C	X.37:g.123699264C>G	ENSP00000360171:p.Glu742Gln		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.E742Q	ENST00000371130.3	37	c.2224	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181403	0.57800	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03242	4.0;4.0	5.75	5.75	0.90469	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.135581	0.51477	D	0.000087	T	0.09949	0.0244	L	0.46885	1.475	0.47341	D	0.999398	D;D;B	0.54964	0.969;0.969;0.129	P;P;B	0.55545	0.666;0.778;0.24	T	0.42716	-0.9435	10	0.13470	T	0.59	.	19.1633	0.93543	0.0:1.0:0.0:0.0	.	741;742;742	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	742	ENSP00000360171:E742Q;ENSP00000403954:E742Q	ENSP00000360171:E742Q	E	-	1	0	ODZ1	123526945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.821000	0.62679	2.562000	0.86427	0.600000	0.82982	GAG	TENM1	-	pfam_EGF_extracell,smart_EG-like_dom		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	C	NM_014253		123699264	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123699264	C	G	123699264	3	3	162	1	0	0	0	0	1	0	0	0	10858	835	29	1	6058	1	ODZ1	23	123699264	Missense_Mutation	SNP	C	TCGA-JW-A852-01A-11D-A351-09	66079632	123699264	31571296	105	30727										
L1CAM	3897	genome.wustl.edu	37	chrX	153132162	153132162	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.254716981132075	27	1.23772935535273e-05	2.46162473962506	4.66046165301564	1.85871784401797	0.292371903340307	0.557967193781023	16	ggtcccttgccctggctgttGacggcctggactttgatctc	12	13	1	2			TCGA-JW-A852-01A-11D-A351-09	TCGA-JW-A852-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d99b5656-9672-42a8-8902-6ee10c559373	0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc	g.chrX:153132162G>T	ENST00000370060.1	-	19	2562	c.2373C>A	c.(2371-2373)gtC>gtA	p.V791V	L1CAM_ENST00000361981.3_Silent_p.V786V|L1CAM_ENST00000370055.1_Silent_p.V786V|L1CAM_ENST00000361699.4_Silent_p.V791V|L1CAM_ENST00000370057.3_Silent_p.V791V|L1CAM_ENST00000538883.1_Silent_p.V793V|L1CAM_ENST00000543994.1_Silent_p.V793V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	791	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCTGTTGACGGCCTGGA	0.632																																																	0													121	96	104					X																	153132162		2203	4300	6503	SO:0001819	synonymous_variant	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2373C>A	X.37:g.153132162G>T			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V793	ENST00000370060.1	37	c.2379	CCDS14733.1	X																																																																																			L1CAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153132162	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	silent	SNP	1.000	T	T	153132162	G	T	153132162	2	4	162	1	0	0	0	0	0	0	0	1	8608	1277	45	3		3	L1CAM	23	153132162	Silent	SNP	G	TCGA-JW-A852-01A-11D-A351-09	29432898	153132162	2138398	106	30728										
DFFA	1676	genome.wustl.edu	37	chr1	10532464	10532464	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	gcgcagcagacacggctttaGagtccggatctcgccagatt	12	12	1	3			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr1:10532464G>T	ENST00000377038.3	-	1	119	c.52C>A	c.(52-54)Cta>Ata	p.L18I	PEX14_ENST00000538836.1_5'Flank|DFFA_ENST00000377036.2_Missense_Mutation_p.L18I|PEX14_ENST00000356607.4_5'Flank	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	18	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CACGGCTTTAGAGTCCGGATC	0.672																																																	0													43	48	46					1																	10532464		2203	4300	6503	SO:0001583	missense	1676			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"DNA fragmentation factor, 45 kD, alpha subunit"	601882	"DNA fragmentation factor, 45 kD, alpha polypeptide"			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.52C>A	1.37:g.10532464G>T	ENSP00000366237:p.Leu18Ile		Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	pfam_DNA_fragmentation_C,pfam_CAD,smart_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD	p.L18I	ENST00000377038.3	37	c.52	CCDS118.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877975	0.91664	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.18	3.27	0.37495	Caspase-activated nuclease CIDE-N (2);	0.572368	0.17837	N	0.160321	T	0.57021	0.2025	L	0.55834	1.745	0.28771	N	0.900343	B;P	0.37158	0.228;0.585	B;P	0.53912	0.385;0.737	T	0.54057	-0.8350	9	0.52906	T	0.07	-1.1065	9.3513	0.38140	0.2304:0.0:0.7696:0.0	.	18;18	O00273-2;O00273	.;DFFA_HUMAN	I	18	.	ENSP00000366235:L18I	L	-	1	2	DFFA	10455051	0.025000	0.19082	0.178000	0.23040	0.883000	0.51084	0.887000	0.28254	1.307000	0.44944	0.655000	0.94253	CTA	DFFA	-	pfam_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD		0.672	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFA	HGNC	protein_coding	OTTHUMT00000005418.1	G	NM_004401		10532464	-1	no_errors	ENST00000377038	ensembl	human	known	70_37	missense	SNP	0.339	T	T	10532464	G	T	10532464	3	4	163	1	0	0	0	0	1	0	0	0	4462	933	33	3	991	3	DFFA	1	10532464	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09		10532464	238718157	1	30729										
HSPG2	3339	genome.wustl.edu	37	chr1	22170683	22170683	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cctccacgcttgtgccacgtGacctgggcgtgggcctgccc	13	17	0	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr1:22170683G>A	ENST00000374695.3	-	65	8653	c.8574C>T	c.(8572-8574)gtC>gtT	p.V2858V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2858	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGTGCCACGTGACCTGGGCGT	0.652																																																	0													66	62	63					1																	22170683		2203	4300	6503	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8574C>T	1.37:g.22170683G>A			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.V2858	ENST00000374695.3	37	c.8574	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22170683	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22170683	G	A	22170683	2	1	163	1	0	0	0	0	0	0	0	1	7450	1277	45	1		1	HSPG2	1	22170683	Silent	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	11638219	22170683	227079938	2	30730										
USP1	7398	genome.wustl.edu	37	chr1	62907935	62907935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	atattatttcaaggaagaaaGaagctctaaaggatgaagcc	9	5	2	3			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr1:62907935G>A	ENST00000339950.4	+	4	1176	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	USP1_ENST00000371146.1_Missense_Mutation_p.E121K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	121	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AAGGAAGAAAGAAGCTCTAAA	0.269																																					Ovarian(122;1846 2315 3982 19504)												0													39	40	40					1																	62907935		2197	4289	6486	SO:0001583	missense	7398				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.361G>A	1.37:g.62907935G>A	ENSP00000343526:p.Glu121Lys		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E121K	ENST00000339950.4	37	c.361	CCDS621.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939488	0.73557	.	.	ENSG00000162607	ENST00000452143;ENST00000371146;ENST00000339950	T;T;T	0.61040	0.14;0.14;0.14	6.17	6.17	0.99709	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.321081	0.36703	N	0.002452	T	0.68100	0.2964	L	0.40543	1.245	0.50813	D	0.999895	D	0.64830	0.994	D	0.66716	0.946	T	0.56932	-0.7897	10	0.15499	T	0.54	-8.8687	20.8794	0.99867	0.0:0.0:1.0:0.0	.	121	O94782	UBP1_HUMAN	K	121	ENSP00000403662:E121K;ENSP00000360188:E121K;ENSP00000343526:E121K	ENSP00000343526:E121K	E	+	1	0	USP1	62680523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.232000	0.78116	2.941000	0.99782	0.655000	0.94253	GAA	USP1	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.269	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	G	NM_001017415		62907935	1	no_errors	ENST00000339950	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62907935	G	A	62907935	3	1	163	1	0	0	0	0	1	0	0	0	17071	943	33	1	371	1	USP1	1	62907935	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	40737252	62907935	186342686	3	30731										
RASAL2	9462	genome.wustl.edu	37	chr1	178411962	178411962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	aaagcagacaatattttctgGggcgaacattttgaattctt	8	6	2	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr1:178411962G>T	ENST00000462775.1	+	6	761	c.636G>T	c.(634-636)tgG>tgT	p.W212C	RASAL2_ENST00000367649.3_Missense_Mutation_p.W360C|RASAL2_ENST00000448150.3_Missense_Mutation_p.W342C	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	212	C2.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATATTTTCTGGGGCGAACATT	0.388																																																	0													87	90	89					1																	178411962		2203	4300	6503	SO:0001583	missense	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.636G>T	1.37:g.178411962G>T	ENSP00000420558:p.Trp212Cys		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.W360C	ENST00000462775.1	37	c.1080	CCDS1322.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213233	0.79352	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;D;D	0.85773	-2.03;-2.03;-2.03	5.75	5.75	0.90469	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94417	0.8204	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94935	0.8086	10	0.87932	D	0	.	19.9405	0.97159	0.0:0.0:1.0:0.0	.	212;360	Q9UJF2;F8W755	NGAP_HUMAN;.	C	342;360;212	ENSP00000407768:W342C;ENSP00000356621:W360C;ENSP00000420558:W212C	ENSP00000356621:W360C	W	+	3	0	RASAL2	176678585	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.716000	0.92895	0.650000	0.86243	TGG	RASAL2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.388	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	G	NM_170692		178411962	1	no_errors	ENST00000367649	ensembl	human	known	70_37	missense	SNP	1.000	T	T	178411962	G	T	178411962	3	4	163	1	0	0	0	0	1	0	0	0	13094	1241	43	4	1127	4	RASAL2	1	178411962	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	115504027	178411962	70838659	4	30732										
CFHR5	81494	genome.wustl.edu	37	chr1	196977674	196977674	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	taacatacagttaaaatggaGaaacgatggaaaactctatg	8	5	1	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr1:196977674G>A	ENST00000256785.4	+	10	1680	c.1571G>A	c.(1570-1572)aGa>aAa	p.R524K	CFHR5_ENST00000367414.5_Missense_Mutation_p.R548K			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	524	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTAAAATGGAGAAACGATGGA	0.323																																																	0													77	72	74					1																	196977674		2203	4300	6503	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1571G>A	1.37:g.196977674G>A	ENSP00000256785:p.Arg524Lys		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R548K	ENST00000256785.4	37	c.1643	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	0.443	-0.897702	0.02472	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.82711	-1.64;-1.64	4.45	-8.91	0.00778	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.58637	0.2136	N	0.20357	0.565	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50389	-0.8834	9	0.05833	T	0.94	.	4.7964	0.13274	0.1468:0.1053:0.4954:0.2525	.	524	Q9BXR6	FHR5_HUMAN	K	548;524	ENSP00000356384:R548K;ENSP00000256785:R524K	ENSP00000256785:R524K	R	+	2	0	CFHR5	195244297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.224000	0.00140	-2.992000	0.00279	-1.263000	0.01449	AGA	CFHR5	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.323	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	G	NM_030787		196977674	1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.000	A	A	196977674	G	A	196977674	3	1	163	1	0	0	0	0	1	0	0	0	3293	942	33	1	1609	1	CFHR5	1	196977674	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	18565712	196977674	52272947	5	30733										
CNTN2	6900	genome.wustl.edu	37	chr1	205039053	205039053	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cagaccgcccgggtgcctggCgccgatgcccagtactttgt	13	15	0	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr1:205039053C>A	ENST00000331830.4	+	18	2579	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	765	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGGTGCCTGGCGCCGATGCCC	0.657																																					Melanoma(183;2548 2817 37099 41192)												0													86	89	88					1																	205039053		2203	4300	6503	SO:0001819	synonymous_variant	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2295C>A	1.37:g.205039053C>A			P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G765	ENST00000331830.4	37	c.2295	CCDS1449.1	1																																																																																			CNTN2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.657	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	C	NM_005076		205039053	1	no_errors	ENST00000331830	ensembl	human	known	70_37	silent	SNP	0.847	A	A	205039053	C	A	205039053	2	1	163	1	0	0	0	0	0	0	0	1	3646	755	27	2		2	CNTN2	1	205039053	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	8061379	205039053	44211568	6	30734										
HEATR1	55127	genome.wustl.edu	37	chr1	236734921	236734921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tttggcagatgttgagcagaCaactaagaattaattgtttg	10	4	0	4			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr1:236734921C>T	ENST00000366582.3	-	27	3887	c.3773G>A	c.(3772-3774)tGt>tAt	p.C1258Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.C1177Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1258					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTTGAGCAGACAACTAAGAAT	0.383																																																	0													162	159	160					1																	236734921		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3773G>A	1.37:g.236734921C>T	ENSP00000355541:p.Cys1258Tyr		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.C1258Y	ENST00000366582.3	37	c.3773	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406008	0.83230	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66460	-0.21;-0.18	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82226	0.4991	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.66847	0.76;0.947	D	0.84314	0.0512	10	0.72032	D	0.01	.	19.0871	0.93209	0.0:1.0:0.0:0.0	.	1177;1258	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	Y	1258;1177	ENSP00000355541:C1258Y;ENSP00000355540:C1177Y	ENSP00000355540:C1177Y	C	-	2	0	HEATR1	234801544	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.465000	0.60141	2.504000	0.84457	0.585000	0.79938	TGT	HEATR1	-	superfamily_ARM-type_fold		0.383	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236734921	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	1.000	T	T	236734921	C	T	236734921	3	4	163	1	0	0	0	0	1	0	0	0	7047	478	17	4	2737	4	HEATR1	1	236734921	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	31695868	236734921	12515700	7	30735										
RGPD3	653489	genome.wustl.edu	37	chr2	107049624	107049624	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tggtgtagaatgttttatttCtgaatccgcatttcgcaaag	9	6	1	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr2:107049624C>G	ENST00000409886.3	-	16	2410	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.E775Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	775					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGTTTTATTTCTGAATCCGCA	0.353																																																	0													45	42	43					2																	107049624		692	1590	2282	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2323G>C	2.37:g.107049624C>G	ENSP00000386588:p.Glu775Gln		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E775Q	ENST00000409886.3	37	c.2323	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	4.568	0.105581	0.08780	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.20332	2.08;2.08	2.34	2.34	0.29019	.	.	.	.	.	T	0.17534	0.0421	L	0.60455	1.87	0.23972	N	0.996307	P	0.37233	0.588	B	0.21708	0.036	T	0.11494	-1.0585	9	0.49607	T	0.09	-20.4736	10.3857	0.44138	0.0:1.0:0.0:0.0	.	775	A6NKT7	RGPD3_HUMAN	Q	775;533;775	ENSP00000386588:E775Q;ENSP00000303659:E775Q	ENSP00000303659:E775Q	E	-	1	0	RGPD3	106416056	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	4.229000	0.58625	1.308000	0.44962	0.173000	0.16961	GAA	RGPD3	-	NULL		0.353	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	C	XM_929931		107049624	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	missense	SNP	1.000	G	G	107049624	C	G	107049624	3	3	163	1	0	0	0	0	1	0	0	0	13317	922	32	1	2985	1	RGPD3	2	107049624	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		107049624	136149749	8	30736										
RGPD4	285190	genome.wustl.edu	37	chr2	108479255	108479255	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ctttgcgaaatgcggattcaGaaataaaacattctacacca	6	9	2	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr2:108479255G>C	ENST00000408999.3	+	16	2400	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q	RGPD4_ENST00000354986.4_Missense_Mutation_p.E775Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	775					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGCGGATTCAGAAATAAAACA	0.348																																																	0													19	19	19					2																	108479255		376	922	1298	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2323G>C	2.37:g.108479255G>C	ENSP00000386810:p.Glu775Gln		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E775Q	ENST00000408999.3	37	c.2323	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	5.599	0.295237	0.10622	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.20332	2.08;2.08	2.3	2.3	0.28687	.	.	.	.	.	T	0.19927	0.0479	L	0.60455	1.87	0.24575	N	0.99391	P	0.37233	0.588	B	0.33295	0.161	T	0.08868	-1.0701	9	0.32370	T	0.25	-20.4736	11.5619	0.50782	0.0:0.0:1.0:0.0	.	775	Q7Z3J3	RGPD4_HUMAN	Q	775;775;533	ENSP00000347081:E775Q;ENSP00000386810:E775Q	ENSP00000347081:E775Q	E	+	1	0	RGPD4	107845687	1.000000	0.71417	0.998000	0.56505	0.152000	0.21847	5.390000	0.66261	1.299000	0.44798	0.152000	0.16155	GAA	RGPD4	-	NULL		0.348	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108479255	1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.997	C	C	108479255	G	C	108479255	3	2	163	1	0	0	0	0	1	0	0	0	13318	943	33	1	2385	1	RGPD4	2	108479255	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	1429631	108479255	134720118	9	30737										
STRADB	55437	genome.wustl.edu	37	chr2	202344886	202344886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cctgatgaaaaagactcataCtgggaattctagggctgcca	10	9	2	3	rs146098224		TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr2:202344886C>T	ENST00000194530.3	+	12	1610	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	415					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AAGACTCATACTGGGAATTCT	0.393																																																	0													134	136	135					2																	202344886		2203	4300	6503	SO:0001819	synonymous_variant	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1245C>T	2.37:g.202344886C>T			Q5BKY7|Q9P1L0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y415	ENST00000194530.3	37	c.1245	CCDS2348.1	2																																																																																			STRADB	-	NULL		0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	C	NM_018571		202344886	1	no_errors	ENST00000194530	ensembl	human	known	70_37	silent	SNP	0.437	T	T	202344886	C	T	202344886	2	4	163	1	0	0	0	0	0	0	0	1	15355	576	20	4		4	STRADB	2	202344886	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	93865631	202344886	40854487	10	30738										
CAMK1	8536	genome.wustl.edu	37	chr3	9802348	9802348	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	agccccaaataccagagtcaGagatgtcgtcccagtaagga	10	11	1	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr3:9802348G>C	ENST00000256460.3	-	8	914	c.737C>G	c.(736-738)tCt>tGt	p.S246C	OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		ACCAGAGTCAGAGATGTCGTC	0.532																																																	0													139	129	133					3																	9802348		2203	4300	6503	SO:0001583	missense	8536			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.737C>G	3.37:g.9802348G>C	ENSP00000256460:p.Ser246Cys		Q3KPF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S246C	ENST00000256460.3	37	c.737	CCDS2582.1	3	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671919	0.88348	.	.	ENSG00000134072	ENST00000256460	T	0.52754	0.65	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85909	0.1439	10	0.87932	D	0	-9.4414	18.4238	0.90602	0.0:0.0:1.0:0.0	.	246	Q14012	KCC1A_HUMAN	C	246	ENSP00000256460:S246C	ENSP00000256460:S246C	S	-	2	0	CAMK1	9777348	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.689000	0.98673	2.431000	0.82371	0.655000	0.94253	TCT	CAMK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.532	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1	HGNC	protein_coding	OTTHUMT00000250206.1	G	NM_003656		9802348	-1	no_errors	ENST00000256460	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9802348	G	C	9802348	3	2	163	1	0	0	0	0	1	0	0	0	2601	942	33	1	395	1	CAMK1	3	9802348	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09		9802348	188220082	11	30739										
SLC34A2	10568	genome.wustl.edu	37	chr4	25665907	25665907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tcggatttctctactttttcGtgtgctccctggatattctt	7	10	2	0	rs78448446		TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr4:25665907G>A	ENST00000382051.3	+	4	384	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	SLC34A2_ENST00000504570.1_Missense_Mutation_p.V111M|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V111M	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	112					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTACTTTTTCGTGTGCTCCCT	0.483			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													140	138	139					4																	25665907		2203	4300	6503	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.334G>A	4.37:g.25665907G>A	ENSP00000371483:p.Val112Met		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.V112M	ENST00000382051.3	37	c.334	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800296	0.70567	.	.	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.35	5.35	0.76521	.	0.056527	0.64402	D	0.000001	D	0.91841	0.7418	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.981	D	0.91893	0.5525	10	0.59425	D	0.04	-27.9342	19.4396	0.94813	0.0:0.0:1.0:0.0	.	111;112	O95436-2;O95436	.;NPT2B_HUMAN	M	111;111;112;111;112	ENSP00000423038:V111M;ENSP00000425501:V111M;ENSP00000371483:V112M;ENSP00000423021:V111M;ENSP00000424266:V112M	ENSP00000371483:V112M	V	+	1	0	SLC34A2	25275005	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	3.764000	0.55264	2.678000	0.91216	0.655000	0.94253	GTG	SLC34A2	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.483	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	G	NM_006424		25665907	1	no_errors	ENST00000382051	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25665907	G	A	25665907	3	1	163	1	0	0	0	0	1	0	0	0	14598	1145	40	2	344	2	SLC34A2	4	25665907	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09		25665907	165488369	12	30740										
TMEM184C	55751	genome.wustl.edu	37	chr4	148555364	148555364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ggaaaaaattgtttcccgagGatcaagatcaaaatgaacat	8	6	2	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr4:148555364G>T	ENST00000296582.3	+	10	1670	c.1096G>T	c.(1096-1098)Gat>Tat	p.D366Y	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	366						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GTTTCCCGAGGATCAAGATCA	0.363																																																	0													66	63	64					4																	148555364		2203	4300	6503	SO:0001583	missense	55751			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1096G>T	4.37:g.148555364G>T	ENSP00000296582:p.Asp366Tyr		D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	pfam_Ost-alpha	p.D366Y	ENST00000296582.3	37	c.1096	CCDS3770.1	4	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401523	0.83120	.	.	ENSG00000164168	ENST00000296582	.	.	.	5.74	5.74	0.90152	.	0.266511	0.42294	D	0.000729	T	0.71400	0.3335	M	0.63428	1.95	0.80722	D	1	D	0.61080	0.989	P	0.55667	0.781	T	0.63800	-0.6555	9	0.12103	T	0.63	-21.3928	20.2825	0.98528	0.0:0.0:1.0:0.0	.	366	Q9NVA4	T184C_HUMAN	Y	366	.	ENSP00000296582:D366Y	D	+	1	0	TMEM184C	148774814	1.000000	0.71417	0.980000	0.43619	0.870000	0.49936	6.766000	0.74970	2.873000	0.98535	0.561000	0.74099	GAT	TMEM184C	-	NULL		0.363	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1	G	NM_018241		148555364	1	no_errors	ENST00000296582	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148555364	G	T	148555364	3	4	163	1	0	0	0	0	1	0	0	0	16136	1174	41	3	1134	3	TMEM184C	4	148555364	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	122889457	148555364	42598912	13	30741										
SFRP2	6423	genome.wustl.edu	37	chr4	154709955	154709956	+	In_Frame_Ins	INS	-	-	AGC													0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	agcagtgcgaggcgaggaagINSagcagcagcagcgagccagg					rs559360607	byFrequency	TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr4:154709955_154709956insAGC	ENST00000274063.4	-	1	316_317	c.32_33insGCT	c.(31-33)ctc>ctGCTc	p.11_11L>LL		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	11					bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGGCGAGGAAGAGCAGCAGCAG	0.708														3	0.000599042	0	0	5008	,	,		13542	0		0.003	False		,,,				2504	0																0										6,3904		0,6,1949						-7.4	0.3			11	34,7600		5,24,3788	no	coding	SFRP2	NM_003013.2		5,30,5737	A1A1,A1R,RR		0.4454,0.1535,0.3465				40,11504				SO:0001652	inframe_insertion	6423			AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.30_32dupGCT	4.37:g.154709962_154709964dupAGC	ENSP00000274063:p.Leu11dup		B3KQR2|O14778|Q9HAP5	In_Frame_Ins	INS	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.12in_frame_insL	ENST00000274063.4	37	c.33_32	CCDS34082.1	4																																																																																			SFRP2	-	NULL		0.708	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP2	HGNC	protein_coding	OTTHUMT00000365296.1	-			154709956	-1	no_errors	ENST00000274063	ensembl	human	known	70_37	in_frame_ins	INS	0.009:0.677	AGC	AGC	154709956	-	AGC	154709955	7	5	163	1	0	1	1	0	0	0	0	0	14192	929	33	0	866	0	SFRP2	4	154709955	In_Frame_Ins	INS	-	TCGA-JX-A3PZ-01A-11D-A21Q-09	6154591	154709955	36444321	14	30742										
NSD1	64324	genome.wustl.edu	37	chr5	176562700	176562700	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ctgcaattatgagactaaatCagagaatggtgtaaaagtgg	11	4	1	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr5:176562700C>T	ENST00000439151.2	+	2	641	c.596C>T	c.(595-597)tCa>tTa	p.S199L	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.S199L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	199					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAGACTAAATCAGAGAATGGT	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													129	125	127					5																	176562700		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.596C>T	5.37:g.176562700C>T	ENSP00000395929:p.Ser199Leu		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S199L	ENST00000439151.2	37	c.596	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253908	0.59212	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.94457	-3.29;-3.43	4.66	4.66	0.58398	.	0.000000	0.38381	N	0.001715	D	0.90386	0.6991	N	0.08118	0	0.80722	D	1	D;P;D	0.61697	0.99;0.948;0.99	P;P;P	0.58721	0.844;0.614;0.842	D	0.86950	0.2085	10	0.02654	T	1	.	14.5812	0.68292	0.0:1.0:0.0:0.0	.	199;199;199	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	L	199	ENSP00000395929:S199L;ENSP00000354310:S199L	ENSP00000354310:S199L	S	+	2	0	NSD1	176495306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.332000	0.43903	2.423000	0.82170	0.462000	0.41574	TCA	NSD1	-	NULL		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176562700	1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176562700	C	T	176562700	3	4	163	1	0	0	0	0	1	0	0	0	10693	838	29	1	598	1	NSD1	5	176562700	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		176562700	4352560	15	30743										
WRNIP1	56897	genome.wustl.edu	37	chr6	2779557	2779557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	gcttacctcagtgacggtgaCgcccgagctgggttgaacgg	15	11	1	3			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr6:2779557C>T	ENST00000380773.4	+	4	1526	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	WRNIP1_ENST00000380769.4_Silent_p.D219D|WRNIP1_ENST00000380771.4_Silent_p.D414D|WRNIP1_ENST00000380764.1_Silent_p.D55D	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GTGACGGTGACGCCCGAGCTG	0.532																																																	0													114	97	103					6																	2779557		2203	4300	6503	SO:0001819	synonymous_variant	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1317C>T	6.37:g.2779557C>T				Silent	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.D439	ENST00000380773.4	37	c.1317	CCDS4475.1	6																																																																																			WRNIP1	-	NULL		0.532	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	C	NM_130395		2779557	1	no_errors	ENST00000380773	ensembl	human	known	70_37	silent	SNP	0.997	T	T	2779557	C	T	2779557	2	4	163	1	0	0	0	0	0	0	0	1	17434	535	19	2		2	WRNIP1	6	2779557	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		2779557	168335510	16	30744										
MDC1	9656	genome.wustl.edu	37	chr6	30671436	30671436	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ctctgcagtatcttcttcctCttccttgataatcactgtct	4	13	6	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr6:30671436C>T	ENST00000376406.3	-	10	6171	c.5524G>A	c.(5524-5526)Gag>Aag	p.E1842K	MDC1_ENST00000376405.2_Missense_Mutation_p.E1578K|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1842	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTTCTTCCTCTTCCTTGATA	0.498								Other conserved DNA damage response genes																																									0													159	164	162					6																	30671436		2203	4300	6503	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5524G>A	6.37:g.30671436C>T	ENSP00000365588:p.Glu1842Lys		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.E1842K	ENST00000376406.3	37	c.5524	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749620	0.69533	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05319	3.46;3.46	4.81	2.97	0.34412	.	0.192578	0.25490	N	0.030304	T	0.08268	0.0206	M	0.75777	2.31	0.24006	N	0.996193	D;D;B	0.71674	0.998;0.997;0.019	D;D;B	0.78314	0.991;0.98;0.031	T	0.18116	-1.0347	10	0.20046	T	0.44	-8.67	6.6655	0.23039	0.0:0.7229:0.1801:0.0971	.	1578;1842;819	Q14676-2;Q14676;Q14676-4	.;MDC1_HUMAN;.	K	1842;1578;1555;1408	ENSP00000365588:E1842K;ENSP00000365587:E1578K	ENSP00000365587:E1578K	E	-	1	0	MDC1	30779415	0.391000	0.25221	0.149000	0.22428	0.149000	0.21700	1.044000	0.30329	0.713000	0.32060	0.555000	0.69702	GAG	MDC1	-	NULL		0.498	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	C	NM_014641		30671436	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	missense	SNP	0.649	T	T	30671436	C	T	30671436	3	4	163	1	0	0	0	0	1	0	0	0	9426	922	32	1	769	1	MDC1	6	30671436	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	27891879	30671436	140443631	17	30745										
TMEM63B	55362	genome.wustl.edu	37	chr6	44102397	44102397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ccaaggactactgctacagcGcccgcatccgcagcactgtc	9	17	0	0			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr6:44102397G>T	ENST00000259746.9	+	2	259	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	TMEM63B_ENST00000323267.6_Missense_Mutation_p.A26S			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	26					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGCTACAGCGCCCGCATCCG	0.632																																																	0													107	77	87					6																	44102397		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.76G>T	6.37:g.44102397G>T	ENSP00000259746:p.Ala26Ser		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.A26S	ENST00000259746.9	37	c.76	CCDS34461.1	6	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417271	0.25552	.	.	ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267	T;T;T	0.34472	1.36;1.36;1.36	4.11	4.11	0.48088	.	0.061042	0.64402	D	0.000004	T	0.18759	0.0450	L	0.28608	0.87	0.49130	D	0.999758	B;D	0.54964	0.029;0.969	B;P	0.51974	0.02;0.686	T	0.03933	-1.0991	10	0.02654	T	1	.	15.0514	0.71872	0.0:0.0:1.0:0.0	.	26;26	Q5T3F8;Q5T3F8-2	TM63B_HUMAN;.	S	26	ENSP00000259746:A26S;ENSP00000437163:A26S;ENSP00000327154:A26S	ENSP00000259746:A26S	A	+	1	0	TMEM63B	44210375	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.223000	0.95203	2.124000	0.65301	0.313000	0.20887	GCC	TMEM63B	-	NULL		0.632	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	G	XM_166410		44102397	1	no_errors	ENST00000259746	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44102397	G	T	44102397	3	4	163	1	0	0	0	0	1	0	0	0	16221	1087	38	2	78	2	TMEM63B	6	44102397	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	13430961	44102397	127012670	18	30746										
BEND6	221336	genome.wustl.edu	37	chr6	56846694	56846694	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	aagaacagagacaatggactCagaaaatgcaaatagtgaca	9	6	1	4			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr6:56846694C>G	ENST00000370746.3	+	2	355	c.86C>G	c.(85-87)tCa>tGa	p.S29*	BEND6_ENST00000370748.3_Nonsense_Mutation_p.S29*|BEND6_ENST00000370745.1_Nonsense_Mutation_p.S29*|BEND6_ENST00000370750.2_Nonsense_Mutation_p.S29*	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	29					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ACAATGGACTCAGAAAATGCA	0.343																																																	0													177	183	181					6																	56846694		1865	4095	5960	SO:0001587	stop_gained	221336			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.86C>G	6.37:g.56846694C>G	ENSP00000359782:p.Ser29*		Q4G0W8|Q8N662|Q96NS6	Nonsense_Mutation	SNP	pfam_BEN_domain	p.S29*	ENST00000370746.3	37	c.86	CCDS43476.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.564405	0.96527	.	.	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	4.82	4.82	0.62117	.	0.000000	0.46758	D	0.000278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.9391	15.4322	0.75108	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000322773:S29X	S	+	2	0	BEND6	56954653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.421000	0.59848	2.379000	0.81126	0.650000	0.86243	TCA	BEND6	-	NULL		0.343	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND6	HGNC	protein_coding	OTTHUMT00000041032.4	C	NM_152731		56846694	1	no_errors	ENST00000370746	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	56846694	C	G	56846694	4	3	163	1	0	0	0	0	0	1	0	0	1403	838	29	1	88	1	BEND6	6	56846694	Nonsense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	12744297	56846694	114268373	19	30747										
BVES	11149	genome.wustl.edu	37	chr6	105577278	105577278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ctcttcttgtataaaagataCgacagatgcaaaatgttgac	7	7	2	3	rs139347341	byFrequency	TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr6:105577278C>T	ENST00000314641.5	-	3	543	c.327G>A	c.(325-327)tcG>tcA	p.S109S	BVES_ENST00000336775.5_Silent_p.S109S|BVES_ENST00000446408.2_Silent_p.S109S	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	109					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATAAAAGATACGACAGATGCA	0.353																																																	0								T	,,	2,4404	4.2+/-10.8	0,2,2201	61	57	58		327,327,327	-11	0.6	6	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	BVES	NM_001199563.1,NM_007073.4,NM_147147.3	,,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,,	109/361,109/361,109/361	105577278	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	11149			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.327G>A	6.37:g.105577278C>T			A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.S109	ENST00000314641.5	37	c.327	CCDS5051.1	6																																																																																			BVES	-	NULL		0.353	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	HGNC	protein_coding	OTTHUMT00000406075.1	C	NM_147147		105577278	-1	no_errors	ENST00000314641	ensembl	human	known	70_37	silent	SNP	0.094	T	T	105577278	C	T	105577278	2	4	163	1	0	0	0	0	0	0	0	1	1578	523	19	2		2	BVES	6	105577278	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	48730584	105577278	65537789	20	30748										
CHN2	1124	genome.wustl.edu	37	chr7	29552182	29552182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tatatgtttgttttgcagggTtactatgaatgaaaaagaca	9	3	0	3			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr7:29552182T>G	ENST00000222792.6	+	13	1768	c.1238T>G	c.(1237-1239)gTt>gGt	p.V413G	CHN2_ENST00000409041.4_Missense_Mutation_p.V277G|CHN2_ENST00000424025.2_Missense_Mutation_p.V232G|CHN2_ENST00000539389.1_Missense_Mutation_p.V269G|CHN2_ENST00000435288.2_Missense_Mutation_p.V137G|CHN2_ENST00000410098.1_3'UTR|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000495789.2_Missense_Mutation_p.V426G|CHN2_ENST00000539406.1_Missense_Mutation_p.V488G|CHN2_ENST00000421775.2_Missense_Mutation_p.V219G|CHN2_ENST00000439711.2_Missense_Mutation_p.V231G|CHN2_ENST00000546235.1_Missense_Mutation_p.V398G|AC007255.8_ENST00000450540.2_RNA	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	413	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TTTTGCAGGGTTACTATGAAT	0.418																																					Ovarian(1;44 48 13232 18918 31480)												0													72	75	74					7																	29552182		2203	4300	6503	SO:0001583	missense	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1238T>G	7.37:g.29552182T>G	ENSP00000222792:p.Val413Gly		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.V488G	ENST00000222792.6	37	c.1463	CCDS5420.1	7	.	.	.	.	.	.	.	.	.	.	T	19.40	3.821048	0.71028	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.41	5.41	0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.108340	0.64402	D	0.000007	T	0.75503	0.3858	H	0.99042	4.41	0.80722	D	1	D;D;P;D;D;D;D;D;D;D;D;P;D;P	0.76494	0.991;0.984;0.906;0.962;0.995;0.958;0.975;0.979;0.996;0.999;0.999;0.79;0.995;0.79	D;D;B;B;P;P;P;D;D;D;D;B;D;B	0.75020	0.957;0.93;0.333;0.412;0.889;0.71;0.794;0.962;0.958;0.985;0.982;0.26;0.922;0.26	D	0.86146	0.1584	10	0.87932	D	0	.	15.4009	0.74841	0.0:0.0:0.0:1.0	.	206;398;426;488;232;186;205;173;231;219;269;413;277;413	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	G	488;413;137;426;269;398;277;232;231;219	ENSP00000444063:V488G;ENSP00000222792:V413G;ENSP00000400282:V137G;ENSP00000438587:V426G;ENSP00000440526:V269G;ENSP00000442812:V398G;ENSP00000386849:V277G;ENSP00000406337:V232G;ENSP00000387425:V231G;ENSP00000394284:V219G	ENSP00000222792:V413G	V	+	2	0	CHN2	29518707	1.000000	0.71417	0.983000	0.44433	0.926000	0.56050	7.997000	0.88414	2.179000	0.69175	0.528000	0.53228	GTT	CHN2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.418	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	HGNC	protein_coding	OTTHUMT00000214228.2	T	NM_004067		29552182	1	no_errors	ENST00000539406	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29552182	T	G	29552182	3	3	163	1	0	0	0	0	1	0	0	0	3368	1725	60	5	1456	5	CHN2	7	29552182	Missense_Mutation	SNP	T	TCGA-JX-A3PZ-01A-11D-A21Q-09		29552182	129586481	21	30749										
ZAN	7455	genome.wustl.edu	37	chr7	100371474	100371474	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ggccctggatgggctgctccGtttcgggcctcaggtaggag	17	11	1	0	rs78193191	byFrequency	TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr7:100371474G>A	ENST00000348028.3	+	0	5930				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGCTGCTCCGTTTCGGGCCT	0.622													G|||	2231	0.445487	0.2141	0.5418	5008	,	,		18070	0.7867		0.3419	False		,,,				2504	0.4448																0													32	34	33					7																	100371474		2009	4154	6163			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100371474G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.R1922H	ENST00000348028.3	37	c.5765		7	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459247	0.63401	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.80994	2.44;2.44;2.41;-1.44	4.56	2.73	0.32206	von Willebrand factor, type C (1);von Willebrand factor, type D domain (1);	0.756330	0.11382	N	0.569707	T	0.73845	0.3639	M	0.76574	2.34	0.21064	N	0.999795	P;P	0.42908	0.754;0.793	B;B	0.33750	0.105;0.169	T	0.64106	-0.6485	10	0.34782	T	0.22	.	6.1384	0.20247	0.226:0.0:0.774:0.0	.	1922;1922	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	1922;1922;1922;433	ENSP00000445943:R1922H;ENSP00000445091:R1922H;ENSP00000444427:R1922H;ENSP00000441117:R433H	ENSP00000423579:R1922H	R	+	2	0	ZAN	100209410	0.922000	0.31269	0.754000	0.31244	0.137000	0.21094	1.873000	0.39558	1.222000	0.43521	0.448000	0.29417	CGT	ZAN	-	smart_VWF_type-D		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	G	NM_003386		100371474	1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	0.705	A	A	100371474	G	A	100371474	1	1	163	0	1	0	0	0	0	0	0	0	17544	1145	40	2		2	ZAN	7	100371474	RNA	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	70819292	100371474	58767189	22	30750										
SGK223	157285	genome.wustl.edu	37	chr8	8185835	8185835	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ggtgaagaggctgcccggctCactatctttttctgggggag	15	9	3	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr8:8185835C>T	ENST00000520004.1	-	5	2721	c.2457G>A	c.(2455-2457)gtG>gtA	p.V819V	SGK223_ENST00000330777.4_Silent_p.V819V			Q86YV5	SG223_HUMAN		821							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTGCCCGGCTCACTATCTTTT	0.612																																					GBM(34;731 755 10259 33573 33867)												0													57	64	62					8																	8185835		1867	4089	5956	SO:0001819	synonymous_variant	157285																														ENST00000520004.1:c.2457G>A	8.37:g.8185835C>T			Q8N3N5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.V819	ENST00000520004.1	37	c.2457	CCDS43706.1	8																																																																																			SGK223	-	NULL		0.612	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_genename	protein_coding	OTTHUMT00000374864.1	C			8185835	-1	no_errors	ENST00000330777	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8185835	C	T	8185835	2	4	163	1	0	0	0	0	0	0	0	1	14240	813	29	1		1	SGK223	8	8185835	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		8185835	138178187	23	30751										
CNBD1	168975	genome.wustl.edu	37	chr8	88249229	88249229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tataaaaatctgattgaaggAagtgattcaccagactcgtt	8	6	2	4			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr8:88249229A>G	ENST00000518476.1	+	6	711	c.660A>G	c.(658-660)ggA>ggG	p.G220G	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	220										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGATTGAAGGAAGTGATTCAC	0.378																																																	0													142	128	133					8																	88249229		1856	4093	5949	SO:0001819	synonymous_variant	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.660A>G	8.37:g.88249229A>G				Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.G220	ENST00000518476.1	37	c.660	CCDS55259.1	8																																																																																			CNBD1	-	superfamily_cNMP-bd-like		0.378	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	A	NM_173538		88249229	1	no_errors	ENST00000518476	ensembl	human	known	70_37	silent	SNP	0.000	G	G	88249229	A	G	88249229	2	3	163	1	0	0	0	0	0	0	0	1	3596	233	9	5		5	CNBD1	8	88249229	Silent	SNP	A	TCGA-JX-A3PZ-01A-11D-A21Q-09	80063394	88249229	58114793	24	30752										
MUC5B	727897	genome.wustl.edu	37	chr11	1265856	1265856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	acctccacagtgcttaccacCacggccaccacaaccggggc	8	19	0	0	rs533882258	byFrequency	TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr11:1265856C>T	ENST00000529681.1	+	31	7804	c.7746C>T	c.(7744-7746)acC>acT	p.T2582T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2585T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2582	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|T -> A (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCTTACCACCACGGCCACCA	0.637													C|||	2	0.000399361	0.0015	0	5008	,	,		19614	0		0	False		,,,				2504	0																0													143	169	160					11																	1265856		2092	4200	6292	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7746C>T	11.37:g.1265856C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T2585	ENST00000529681.1	37	c.7755	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	2.262	-0.369115	0.05069	.	.	ENSG00000117983	ENST00000537836	.	.	.	2.56	-4.54	0.03452	.	.	.	.	.	T	0.19087	0.0458	.	.	.	0.27423	N	0.954248	.	.	.	.	.	.	T	0.28170	-1.0052	5	0.33141	T	0.24	.	0.6167	0.00771	0.423:0.2122:0.1325:0.2323	.	.	.	.	L	126	.	ENSP00000440615:P126L	P	+	2	0	MUC5B	1222432	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.969000	0.00088	-0.789000	0.04498	-1.043000	0.02367	CCA	MUC5B	-	NULL		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1265856	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.000	T	T	1265856	C	T	1265856	2	4	163	1	0	0	0	0	0	0	0	1	10002	581	21	4		4	MUC5B	11	1265856	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		1265856	133740660	25	30753										
MUC5B	727897	genome.wustl.edu	37	chr11	1265936	1265936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	agctcacactaccaaagtgcTgactaccacaaccacgggct	7	15	1	1	rs2943496	byFrequency	TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr11:1265936T>C	ENST00000529681.1	+	31	7884	c.7826T>C	c.(7825-7827)cTg>cCg	p.L2609P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.L2612P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2609	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			L -> P (in Ref. 4; CAA96577). {ECO:0000305}.|Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAAAGTGCTGACTACCACA	0.642													T|||	67	0.0133786	0.0151	0.0101	5008	,	,		19126	0.001		0.0318	False		,,,				2504	0.0072																0								T	PRO/LEU	17,4159		0,17,2071	155	184	174		7826	-1.6	0	11	dbSNP_101	174	87,8309		6,75,4117	no	missense	MUC5B	NM_002458.2	98	6,92,6188	CC,CT,TT		1.0362,0.4071,0.8272	benign	2609/5763	1265936	104,12468	2088	4198	6286	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7826T>C	11.37:g.1265936T>C	ENSP00000436812:p.Leu2609Pro		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L2612P	ENST00000529681.1	37	c.7835	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	T	0.373	-0.932845	0.02359	0.004071	0.010362	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.24350	1.86;2.05	0.801	-1.6	0.08426	.	.	.	.	.	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23048	-1.0199	9	0.87932	D	0	.	2.808	0.05433	0.3291:0.2918:0.0:0.3791	rs2943496	3247;2612	A7Y9J9;E9PBJ0	.;.	P	2609;2612;2581;2624	ENSP00000436812:L2609P;ENSP00000415793:L2612P	ENSP00000343037:L2581P	L	+	2	0	MUC5B	1222512	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-12.573000	0.00001	-0.800000	0.04433	0.155000	0.16302	CTG	MUC5B	-	NULL		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	T	XM_001126093		1265936	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	C	C	1265936	T	C	1265936	3	2	163	1	0	0	0	0	1	0	0	0	10002	1580	55	5	7957	5	MUC5B	11	1265936	Missense_Mutation	SNP	T	TCGA-JX-A3PZ-01A-11D-A21Q-09	80	1265936	133740580	26	30754										
KCNQ1	3784	genome.wustl.edu	37	chr11	2609969	2609969	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	aaaaaaaagttcaagctggaCaaagacaatggggtgactcc	10	7	1	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr11:2609969C>G	ENST00000155840.5	+	10	1386	c.1278C>G	c.(1276-1278)gaC>gaG	p.D426E	KCNQ1_ENST00000335475.5_Missense_Mutation_p.D299E	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	426					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCAAGCTGGACAAAGACAATG	0.542																																																	0													59	60	59					11																	2609969		2202	4299	6501	SO:0001583	missense	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1278C>G	11.37:g.2609969C>G	ENSP00000155840:p.Asp426Glu		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.D426E	ENST00000155840.5	37	c.1278	CCDS7736.1	11	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573326	0.28092	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99207	-5.56;-5.47	5.02	-2.99	0.05497	.	0.469806	0.23416	N	0.048418	D	0.94739	0.8302	N	0.19112	0.55	0.38309	D	0.943199	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.13407	0.009;0.004;0.005	D	0.87158	0.2213	10	0.08179	T	0.78	-29.3041	5.1273	0.14892	0.0:0.2716:0.3412:0.3872	.	299;299;426	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	E	426;299	ENSP00000155840:D426E;ENSP00000334497:D299E	ENSP00000155840:D426E	D	+	3	2	KCNQ1	2566545	0.882000	0.30256	0.904000	0.35570	0.866000	0.49608	-0.448000	0.06820	-0.247000	0.09597	0.484000	0.47621	GAC	KCNQ1	-	prints_K_chnl_volt-dep_KCQN1		0.542	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	C	NM_000218		2609969	1	no_errors	ENST00000155840	ensembl	human	known	70_37	missense	SNP	0.982	G	G	2609969	C	G	2609969	3	3	163	1	0	0	0	0	1	0	0	0	8102	477	17	4	1325	4	KCNQ1	11	2609969	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	1344033	2609969	132396547	27	30755										
C12orf59	120939	genome.wustl.edu	37	chr12	10342532	10342532	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ggccctgcagctcggaggatCctggctgtggctcactccca	13	15	1	0			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr12:10342532C>A	ENST00000381923.2	+	6	749	c.345C>A	c.(343-345)atC>atA	p.I115I	TMEM52B_ENST00000536952.1_Silent_p.I115I|TMEM52B_ENST00000298530.3_Silent_p.I95I			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	115						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTCGGAGGATCCTGGCTGTGG	0.562																																																	0													93	81	85					12																	10342532		2203	4300	6503	SO:0001819	synonymous_variant	120939			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.345C>A	12.37:g.10342532C>A			Q96NA7	Silent	SNP	NULL	p.I115	ENST00000381923.2	37	c.345		12																																																																																			TMEM52B	-	NULL		0.562	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	HGNC	protein_coding	OTTHUMT00000399645.1	C	NM_153022		10342532	1	no_errors	ENST00000381923	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10342532	C	A	10342532	2	1	163	1	0	0	0	0	0	0	0	1	1706	845	30	3		3	C12orf59	12	10342532	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		10342532	123509363	28	30756										
RERGL	79785	genome.wustl.edu	37	chr12	18238556	18238556	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	gtgttttgttttacttacttGagaacaagggtcatatattt	8	4	1	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr12:18238556G>A	ENST00000229002.2	-	4	390	c.184C>T	c.(184-186)Caa>Taa	p.Q62*	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Nonsense_Mutation_p.Q61*|RERGL_ENST00000538724.1_Nonsense_Mutation_p.Q61*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	62	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTACTTACTTGAGAACAAGGG	0.284																																																	0													106	107	106					12																	18238556		2202	4296	6498	SO:0001587	stop_gained	79785			AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.184C>T	12.37:g.18238556G>A	ENSP00000229002:p.Gln62*			Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	p.Q62*	ENST00000229002.2	37	c.184	CCDS8679.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.247266	0.95305	.	.	ENSG00000111404	ENST00000229002;ENST00000538724;ENST00000536890	.	.	.	4.1	4.1	0.47936	.	0.125962	0.56097	D	0.000033	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.7719	0.78176	0.0:0.0:1.0:0.0	.	.	.	.	X	62;61;61	.	ENSP00000229002:Q62X	Q	-	1	0	RERGL	18129823	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	5.659000	0.68010	2.561000	0.86390	0.557000	0.71058	CAA	RERGL	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.284	RERGL-001	KNOWN	basic|CCDS	protein_coding	RERGL	HGNC	protein_coding	OTTHUMT00000401198.1	G	NM_024730		18238556	-1	no_errors	ENST00000229002	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	18238556	G	A	18238556	4	1	163	1	0	0	0	0	0	1	0	0	13263	1299	45	1	445	1	RERGL	12	18238556	Nonsense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	7896024	18238556	115613339	29	30757										
LRRK2	120892	genome.wustl.edu	37	chr12	40645343	40645343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	gaagattggagatgaagatgGccagttagtagttttgattt	13	2	0	5			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr12:40645343G>T	ENST00000298910.7	+	10	1236	c.1178G>T	c.(1177-1179)gGc>gTc	p.G393V	LRRK2_ENST00000343742.2_Missense_Mutation_p.G393V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	393					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATGAAGATGGCCAGTTAGTA	0.313											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													45	44	44					12																	40645343		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1178G>T	12.37:g.40645343G>T	ENSP00000298910:p.Gly393Val	895	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.G393V	ENST00000298910.7	37	c.1178	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205442	0.39003	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.44482	0.92;0.92	5.65	2.41	0.29592	Armadillo-like helical (1);Armadillo-type fold (1);	0.356343	0.29480	N	0.012038	T	0.30541	0.0768	L	0.34521	1.04	0.49130	D	0.999755	P;P	0.48162	0.906;0.498	B;B	0.44224	0.444;0.155	T	0.07046	-1.0793	10	0.72032	D	0.01	.	5.2259	0.15393	0.3187:0.1514:0.5299:0.0	.	393;393	E9PC85;Q5S007	.;LRRK2_HUMAN	V	393	ENSP00000341930:G393V;ENSP00000298910:G393V	ENSP00000298910:G393V	G	+	2	0	LRRK2	38931610	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.209000	0.42806	0.755000	0.32990	-0.142000	0.14014	GGC	LRRK2	-	superfamily_ARM-type_fold		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	G	XM_058513		40645343	1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	0.989	T	T	40645343	G	T	40645343	3	4	163	1	0	0	0	0	1	0	0	0	9056	1203	42	4	1216	4	LRRK2	12	40645343	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	22406787	40645343	93206552	30	30758										
TMEM117	84216	genome.wustl.edu	37	chr12	44693454	44693454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tgaatcggggatttttgcccAgtgatgaagtttccagagca	12	7	0	4			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr12:44693454A>G	ENST00000266534.3	+	6	827	c.700A>G	c.(700-702)Agt>Ggt	p.S234G	TMEM117_ENST00000536799.1_Missense_Mutation_p.S130G|TMEM117_ENST00000551577.1_Missense_Mutation_p.S234G	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	234						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATTTTTGCCCAGTGATGAAGT	0.448																																																	0													299	275	283					12																	44693454		2203	4300	6503	SO:0001583	missense	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.700A>G	12.37:g.44693454A>G	ENSP00000266534:p.Ser234Gly			Missense_Mutation	SNP	NULL	p.S234G	ENST00000266534.3	37	c.700	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850677	0.71719	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.48836	0.8;0.8;0.8	5.21	5.21	0.72293	.	0.109289	0.85682	D	0.000000	T	0.64011	0.2560	L	0.53249	1.67	0.51482	D	0.999926	D;D;D	0.67145	0.974;0.996;0.974	D;D;D	0.73380	0.953;0.98;0.953	T	0.67122	-0.5750	10	0.72032	D	0.01	-14.3756	15.3725	0.74577	1.0:0.0:0.0:0.0	.	234;130;234	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	G	234;234;130	ENSP00000448595:S234G;ENSP00000266534:S234G;ENSP00000445243:S130G	ENSP00000266534:S234G	S	+	1	0	TMEM117	42979721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.027000	0.93706	2.092000	0.63282	0.482000	0.46254	AGT	TMEM117	-	NULL		0.448	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	A	NM_032256		44693454	1	no_errors	ENST00000266534	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44693454	A	G	44693454	3	3	163	1	0	0	0	0	1	0	0	0	16061	188	7	5	718	5	TMEM117	12	44693454	Missense_Mutation	SNP	A	TCGA-JX-A3PZ-01A-11D-A21Q-09	4048111	44693454	89158441	31	30759										
RAD9B	144715	genome.wustl.edu	37	chr12	110957694	110957694	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tagagcatcttcaccacagtCactgtgtctttcacagaaac	6	12	5	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr12:110957694C>T	ENST00000409778.3	+	7	680	c.656C>T	c.(655-657)tCa>tTa	p.S219L	RAD9B_ENST00000392672.4_Missense_Mutation_p.S288L|RAD9B_ENST00000409425.1_Missense_Mutation_p.S216L|RAD9B_ENST00000409300.1_Missense_Mutation_p.S288L|RAD9B_ENST00000409246.1_Missense_Mutation_p.S216L			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	285					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCACCACAGTCACTGTGTCTT	0.353																																																	0													155	134	141					12																	110957694		2202	4300	6502	SO:0001583	missense	144715				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.656C>T	12.37:g.110957694C>T	ENSP00000386697:p.Ser219Leu		Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	pfam_Rad9/Ddc1,pirsf_Rad9	p.S288L	ENST00000409778.3	37	c.863		12	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463262	0.26248	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.26223	1.75;2.07;2.08;1.75;2.0	5.41	3.56	0.40772	.	0.322426	0.26373	N	0.024755	T	0.24122	0.0584	L	0.51422	1.61	0.09310	N	1	B;B;B	0.17465	0.022;0.001;0.003	B;B;B	0.17433	0.018;0.0;0.004	T	0.16867	-1.0388	10	0.48119	T	0.1	-2.6925	11.0655	0.47972	0.0:0.8496:0.0:0.1504	.	219;288;285	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	L	216;288;288;216;219	ENSP00000387329:S216L;ENSP00000376440:S288L;ENSP00000386434:S288L;ENSP00000386629:S216L;ENSP00000386697:S219L	ENSP00000376440:S288L	S	+	2	0	RAD9B	109442077	0.022000	0.18835	0.197000	0.23402	0.650000	0.38633	2.102000	0.41796	0.635000	0.30488	0.655000	0.94253	TCA	RAD9B	-	pirsf_Rad9		0.353	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	RAD9B	HGNC	protein_coding	OTTHUMT00000404634.1	C	NM_152442		110957694	1	no_errors	ENST00000392672	ensembl	human	known	70_37	missense	SNP	0.101	T	T	110957694	C	T	110957694	3	4	163	1	0	0	0	0	1	0	0	0	13026	838	29	1	897	1	RAD9B	12	110957694	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	66264240	110957694	22894201	32	30760										
CABP1	9478	genome.wustl.edu	37	chr12	121094061	121094061	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tcctgcgcaagggcttcgctGagaacaggcagcctgtacgt	13	12	0	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr12:121094061G>A	ENST00000316803.3	+	2	788				CABP1_ENST00000288616.3_Missense_Mutation_p.E71K|CABP1_ENST00000453000.1_Missense_Mutation_p.E150K|CABP1_ENST00000351200.2_Intron	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGCTTCGCTGAGAACAGGCA	0.617																																																	0													20	18	19					12																	121094061		2203	4300	6503	SO:0001627	intron_variant	9478			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3620G>A	12.37:g.121094061G>A			O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E71K	ENST00000316803.3	37	c.211	CCDS31913.1	12	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244758	0.59103	.	.	ENSG00000157782	ENST00000288616;ENST00000453000	T;T	0.72282	-0.59;-0.64	5.98	5.98	0.97165	.	.	.	.	.	T	0.60090	0.2242	N	0.17082	0.46	0.40321	D	0.978821	B;B	0.22003	0.063;0.035	B;B	0.22386	0.039;0.026	T	0.53711	-0.8400	9	0.34782	T	0.22	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	150;71	C9J8G2;Q9NZU7-1	.;.	K	71;150	ENSP00000288616:E71K;ENSP00000398959:E150K	ENSP00000288616:E71K	E	+	1	0	CABP1	119578444	1.000000	0.71417	0.950000	0.38849	0.988000	0.76386	4.118000	0.57884	2.847000	0.97988	0.591000	0.81541	GAG	CABP1	-	NULL		0.617	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	G	NM_001033677		121094061	1	no_errors	ENST00000288616	ensembl	human	known	70_37	missense	SNP	0.999	A	A	121094061	G	A	121094061	1	1	163	0	1	0	0	0	0	0	0	0	2536	1291	45	1		1	CABP1	12	121094061	Intron	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	10136367	121094061	12757834	33	30761										
SLITRK1	114798	genome.wustl.edu	37	chr13	84454243	84454243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tcagtttgggcatggcattgAaagtgcccgggaggatgagc	16	7	1	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr13:84454243A>G	ENST00000377084.2	-	1	2285	c.1400T>C	c.(1399-1401)tTc>tCc	p.F467S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	467					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CATGGCATTGAAAGTGCCCGG	0.557																																																	0													78	71	73					13																	84454243		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1400T>C	13.37:g.84454243A>G	ENSP00000366288:p.Phe467Ser		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F467S	ENST00000377084.2	37	c.1400	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	A	17.13	3.312023	0.60414	.	.	ENSG00000178235	ENST00000377084	T	0.70749	-0.51	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.89111	0.6622	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92533	0.6035	10	0.87932	D	0	-16.6297	14.208	0.65746	1.0:0.0:0.0:0.0	.	467	Q96PX8	SLIK1_HUMAN	S	467	ENSP00000366288:F467S	ENSP00000366288:F467S	F	-	2	0	SLITRK1	83352244	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.287000	0.95975	2.104000	0.64026	0.533000	0.62120	TTC	SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.557	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	A	NM_052910		84454243	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	missense	SNP	1.000	G	G	84454243	A	G	84454243	3	3	163	1	0	0	0	0	1	0	0	0	14772	246	9	5	694	5	SLITRK1	13	84454243	Missense_Mutation	SNP	A	TCGA-JX-A3PZ-01A-11D-A21Q-09		84454243	30715635	34	30762										
KTN1	3895	genome.wustl.edu	37	chr14	56103991	56103991	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	gcttacagataccttggtatCaaaacaacagttggagcaaa	8	8	1	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr14:56103991C>G	ENST00000395314.3	+	11	1693	c.1625C>G	c.(1624-1626)tCa>tGa	p.S542*	KTN1_ENST00000395308.1_Nonsense_Mutation_p.S542*|KTN1_ENST00000416613.1_Nonsense_Mutation_p.S542*|KTN1_ENST00000395309.3_Nonsense_Mutation_p.S542*|KTN1_ENST00000413890.2_Nonsense_Mutation_p.S542*|KTN1_ENST00000438792.2_Nonsense_Mutation_p.S542*|KTN1_ENST00000395311.1_Nonsense_Mutation_p.S542*	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	542					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACCTTGGTATCAAAACAACAG	0.343			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													104	106	105					14																	56103991		2202	4300	6502	SO:0001587	stop_gained	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1625C>G	14.37:g.56103991C>G	ENSP00000378725:p.Ser542*		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Nonsense_Mutation	SNP	NULL	p.S542*	ENST00000395314.3	37	c.1625	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.389882	0.97529	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	.	.	.	5.22	5.22	0.72569	.	0.186510	0.26193	N	0.025785	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.0216	19.1377	0.93435	0.0:1.0:0.0:0.0	.	.	.	.	X	542	.	ENSP00000378719:S542X	S	+	2	0	KTN1	55173744	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.188000	0.72045	2.586000	0.87340	0.514000	0.50259	TCA	KTN1	-	NULL		0.343	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	C			56103991	1	no_errors	ENST00000395309	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	56103991	C	G	56103991	4	3	163	1	0	0	0	0	0	1	0	0	8605	838	29	1	1663	1	KTN1	14	56103991	Nonsense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		56103991	51245549	35	30763										
ATP10A	57194	genome.wustl.edu	37	chr15	25958932	25958932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cactgacatcctcttgcggaCggaatcgaaacccagtgtgt	10	12	1	1	rs372138642		TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr15:25958932C>T	ENST00000356865.6	-	10	2344	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	745					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCTTGCGGACGGAATCGAAA	0.612																																																	0								C	ILE/VAL	0,4406		0,0,2203	86	80	82		2233	0.7	1	15		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP10A	NM_024490.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	745/1500	25958932	1,13005	2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2233G>A	15.37:g.25958932C>T	ENSP00000349325:p.Val745Ile		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.V745I	ENST00000356865.6	37	c.2233	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	5.807	0.333105	0.11013	0.0	1.16E-4	ENSG00000206190	ENST00000356865	D	0.82526	-1.62	4.49	0.664	0.17890	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.392893	0.31031	N	0.008388	T	0.63379	0.2506	N	0.11927	0.2	0.09310	N	0.999997	B	0.13145	0.007	B	0.13407	0.009	T	0.47394	-0.9121	10	0.17832	T	0.49	-9.6666	8.7896	0.34843	0.0:0.4518:0.0:0.5482	.	745	O60312	AT10A_HUMAN	I	745	ENSP00000349325:V745I	ENSP00000349325:V745I	V	-	1	0	ATP10A	23510025	1.000000	0.71417	0.962000	0.40283	0.666000	0.39218	0.722000	0.25925	0.169000	0.19679	-0.417000	0.06048	GTC	ATP10A	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.612	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	C	NM_024490		25958932	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	0.997	T	T	25958932	C	T	25958932	3	4	163	1	0	0	0	0	1	0	0	0	1117	536	19	2	2314	2	ATP10A	15	25958932	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		25958932	76572460	36	30764										
FBN1	2200	genome.wustl.edu	37	chr15	48888524	48888524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	atccgtaagtgcatgcacatCgatttggggccacacacctt	9	12	0	0			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr15:48888524C>T	ENST00000316623.5	-	6	949	c.494G>A	c.(493-495)cGa>cAa	p.R165Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	165	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R165Q(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCATGCACATCGATTTGGGGC	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											131	117	122					15																	48888524		2197	4296	6493	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.494G>A	15.37:g.48888524C>T	ENSP00000325527:p.Arg165Gln		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.R165Q	ENST00000316623.5	37	c.494	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879179	0.91740	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;T	0.91631	-2.88;0.14	5.87	5.87	0.94306	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	L	0.35487	1.065	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.93644	0.6967	10	0.51188	T	0.08	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	165	P35555	FBN1_HUMAN	Q	165	ENSP00000325527:R165Q;ENSP00000440294:R165Q	ENSP00000325527:R165Q	R	-	2	0	FBN1	46675816	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.246000	0.78247	2.785000	0.95823	0.655000	0.94253	CGA	FBN1	-	smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	C			48888524	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48888524	C	T	48888524	3	4	163	1	0	0	0	0	1	0	0	0	5720	884	31	1	8365	1	FBN1	15	48888524	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	22929592	48888524	53642868	37	30765										
ITGA11	22801	genome.wustl.edu	37	chr15	68624760	68624760	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cccaccagcaggacatcagtCacgccgtcgccgtcgatgtc	10	17	2	0			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr15:68624760C>G	ENST00000315757.7	-	13	1568	c.1482G>C	c.(1480-1482)gtG>gtC	p.V494V	ITGA11_ENST00000423218.2_Silent_p.V494V	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	494					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.V494V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGACATCAGTCACGCCGTCGC	0.607																																																	1	Substitution - coding silent(1)	lung(1)											46	49	48					15																	68624760		2124	4233	6357	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1482G>C	15.37:g.68624760C>G			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.V494	ENST00000315757.7	37	c.1482	CCDS45291.1	15																																																																																			ITGA11	-	pfam_FG-GAP,smart_Int_alpha_beta-p		0.607	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		C	NM_012211		68624760	-1	no_errors	ENST00000315757	ensembl	human	known	70_37	silent	SNP	0.030	G	G	68624760	C	G	68624760	2	3	163	1	0	0	0	0	0	0	0	1	7894	813	29	1		1	ITGA11	15	68624760	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	19736236	68624760	33906632	38	30766										
GOLGA6C	653641	genome.wustl.edu	37	chr15	75557739	75557739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	gagagagggcccggtggcagGagaggatgtggaaaatgtcg	20	5	0	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr15:75557739G>A	ENST00000300576.5	+	9	733	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	245						Golgi apparatus (GO:0005794)				ovary(1)	1						CCGGTGGCAGGAGAGGATGTG	0.502																																																	0																																										SO:0001583	missense	653641				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.733G>A	15.37:g.75557739G>A	ENSP00000300576:p.Glu245Lys			Missense_Mutation	SNP	NULL	p.E245K	ENST00000300576.5	37	c.733	CCDS58388.1	15	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730468	0.30684	.	.	ENSG00000167195	ENST00000300576	T	0.23147	1.92	0.167	-0.334	0.12666	.	.	.	.	.	T	0.39306	0.1073	M	0.73962	2.25	0.21184	N	0.999763	P	0.49696	0.927	P	0.56563	0.801	T	0.29274	-1.0017	9	0.72032	D	0.01	.	5.5572	0.17123	0.0:0.3457:0.6542:0.0	.	245	A6NDK9	GOG6C_HUMAN	K	245	ENSP00000300576:E245K	ENSP00000300576:E245K	E	+	1	0	GOLGA6C	73344792	0.941000	0.31946	0.007000	0.13788	0.007000	0.05969	0.175000	0.16762	-0.972000	0.03559	-0.971000	0.02607	GAG	GOLGA6C	-	NULL		0.502	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	HGNC	protein_coding	OTTHUMT00000419797.1	G	NM_001164404		75557739	1	no_errors	ENST00000300576	ensembl	human	known	70_37	missense	SNP	0.902	A	A	75557739	G	A	75557739	3	1	163	1	0	0	0	0	1	0	0	0	6578	1175	41	1	767	1	GOLGA6C	15	75557739	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	6932979	75557739	26973653	39	30767										
ZNF174	7727	genome.wustl.edu	37	chr16	3452170	3452170	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tcagacgcttttgttatcaaGaggtgtctggaccccaagag	11	9	3	3			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr16:3452170G>C	ENST00000268655.4	+	1	751	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	ZSCAN32_ENST00000396852.4_5'Flank|ZNF174_ENST00000572544.1_Missense_Mutation_p.E56Q|ZNF174_ENST00000575752.1_Missense_Mutation_p.E56Q|ZSCAN32_ENST00000304926.3_5'Flank|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Missense_Mutation_p.E56Q|ZSCAN32_ENST00000439568.2_5'Flank|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000344823.5_Missense_Mutation_p.E56Q	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	56					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TTGTTATCAAGAGGTGTCTGG	0.542																																																	0													111	125	120					16																	3452170		2197	4300	6497	SO:0001583	missense	7727			U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.166G>C	16.37:g.3452170G>C	ENSP00000268655:p.Glu56Gln		Q53Y68|Q9BQ34	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E56Q	ENST00000268655.4	37	c.166	CCDS10504.1	16	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040375	0.75732	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.08008	3.14;3.14	4.5	4.5	0.54988	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.49305	D	0.000160	T	0.29355	0.0731	M	0.85777	2.775	0.28530	N	0.912649	D;D;P	0.89917	1.0;0.999;0.728	D;D;P	0.76575	0.986;0.988;0.558	T	0.07046	-1.0793	10	0.72032	D	0.01	.	10.2594	0.43416	0.0:0.0:0.803:0.197	.	56;56;56	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	Q	56	ENSP00000339781:E56Q;ENSP00000268655:E56Q	ENSP00000268655:E56Q	E	+	1	0	ZNF174	3392171	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	5.751000	0.68720	2.790000	0.95986	0.655000	0.94253	GAG	ZNF174	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.542	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	HGNC	protein_coding	OTTHUMT00000251510.1	G	NM_003450		3452170	1	no_errors	ENST00000268655	ensembl	human	known	70_37	missense	SNP	0.996	C	C	3452170	G	C	3452170	3	2	163	1	0	0	0	0	1	0	0	0	17774	943	33	1	168	1	ZNF174	16	3452170	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09		3452170	86902583	40	30768										
TMC7	79905	genome.wustl.edu	37	chr16	19051725	19051725	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ttgccaagatcatccgctatGaggattattctccaggcttt	8	10	2	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr16:19051725G>A	ENST00000304381.5	+	9	1424	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	TMC7_ENST00000569532.1_Missense_Mutation_p.E432K|TMC7_ENST00000421369.3_Missense_Mutation_p.E322K	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	432					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CATCCGCTATGAGGATTATTC	0.453																																																	0													128	113	118					16																	19051725		2197	4300	6497	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1294G>A	16.37:g.19051725G>A	ENSP00000304710:p.Glu432Lys		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.E432K	ENST00000304381.5	37	c.1294	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928740	0.92389	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.64085	-0.08;-0.08	4.46	4.46	0.54185	.	0.125119	0.52532	D	0.000073	T	0.80539	0.4642	M	0.87547	2.89	0.58432	D	0.999997	P;D	0.56287	0.939;0.975	P;P	0.62382	0.847;0.901	D	0.85370	0.1113	10	0.87932	D	0	.	17.1093	0.86671	0.0:0.0:1.0:0.0	.	432;432	Q7Z402;B3KSZ3	TMC7_HUMAN;.	K	432;322	ENSP00000304710:E432K;ENSP00000397081:E322K	ENSP00000304710:E432K	E	+	1	0	TMC7	18959226	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.765000	0.98953	2.024000	0.59613	0.416000	0.27883	GAG	TMC7	-	NULL		0.453	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	G	NM_024847		19051725	1	no_errors	ENST00000304381	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19051725	G	A	19051725	3	1	163	1	0	0	0	0	1	0	0	0	16020	1291	45	1	1328	1	TMC7	16	19051725	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	15599555	19051725	71303028	41	30769										
C16orf62	57020	genome.wustl.edu	37	chr16	19584549	19584549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ttgcccggtacaccactaccGaaaagctgtctattgtgagt	9	11	1	1	rs144556424		TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr16:19584549G>A	ENST00000251143.5	+	4	406	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	C16orf62_ENST00000538853.1_Missense_Mutation_p.E221K|C16orf62_ENST00000438132.3_Missense_Mutation_p.E221K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E221K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E132K			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	132						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CACCACTACCGAAAAGCTGTC	0.458																																																	0								G	LYS/GLU	2,4392	2.1+/-5.4	0,2,2195	110	112	111		661	5.3	0.3	16	dbSNP_134	111	0,8600		0,0,4300	no	missense	C16orf62	NM_020314.5	56	0,2,6495	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	221/1053	19584549	2,12992	2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.394G>A	16.37:g.19584549G>A	ENSP00000251143:p.Glu132Lys		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	NULL	p.E221K	ENST00000251143.5	37	c.661		16	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698145	0.88830	4.55E-4	0.0	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.62232	1.55;0.04;1.55;1.55;1.55	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.988;0.992;0.998	T	0.77627	-0.2517	10	0.40728	T	0.16	-23.9504	17.9978	0.89189	0.0:0.0:1.0:0.0	.	221;132;221	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	K	221;221;221;132;132	ENSP00000400815:E221K;ENSP00000444363:E221K;ENSP00000442468:E221K;ENSP00000251143:E132K;ENSP00000395973:E132K	ENSP00000251143:E132K	E	+	1	0	C16orf62	19492050	1.000000	0.71417	0.253000	0.24343	0.461000	0.32589	9.491000	0.97954	2.488000	0.83962	0.557000	0.71058	GAA	C16orf62	-	NULL		0.458	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		G	NM_020314		19584549	1	no_errors	ENST00000438132	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19584549	G	A	19584549	3	1	163	1	0	0	0	0	1	0	0	0	1829	1059	37	1	408	1	C16orf62	16	19584549	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	532824	19584549	70770204	42	30770										
CEP192	55125	genome.wustl.edu	37	chr18	13100368	13100368	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	acttttaactcgtttgacctCcaaaccatttggaattcttt	4	10	1	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr18:13100368C>G	ENST00000325971.8	+	36	6533	c.4940C>G	c.(4939-4941)tCc>tGc	p.S1647C	CEP192_ENST00000506447.1_Missense_Mutation_p.S2243C|CEP192_ENST00000430049.2_Missense_Mutation_p.S1768C|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1647					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGTTTGACCTCCAAACCATTT	0.368																																																	0													80	79	79					18																	13100368		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4940C>G	18.37:g.13100368C>G	ENSP00000317156:p.Ser1647Cys		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.S2243C	ENST00000325971.8	37	c.6728		18	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623190	0.28889	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06768	3.26;3.26;3.26	5.52	4.63	0.57726	.	0.216274	0.45361	D	0.000377	T	0.22513	0.0543	M	0.63843	1.955	0.31734	N	0.636616	D;P;B;D	0.76494	0.999;0.621;0.102;0.998	D;B;B;P	0.63113	0.911;0.363;0.051;0.891	T	0.01496	-1.1340	10	0.44086	T	0.13	-10.5982	14.242	0.65963	0.0:0.9226:0.0:0.0774	.	1768;2243;247;845	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	C	2243;1647;1647;1768;247	ENSP00000427550:S2243C;ENSP00000317156:S1647C;ENSP00000389190:S1768C	ENSP00000317156:S1647C	S	+	2	0	CEP192	13090368	0.071000	0.21146	0.530000	0.27963	0.245000	0.25701	2.243000	0.43115	2.756000	0.94617	0.655000	0.94253	TCC	CEP192	-	NULL		0.368	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13100368	1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	0.775	G	G	13100368	C	G	13100368	3	3	163	1	0	0	0	0	1	0	0	0	3256	855	30	1	6874	1	CEP192	18	13100368	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		13100368	64976880	43	30771										
ABHD3	171586	genome.wustl.edu	37	chr18	19239206	19239206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tcagtggtttttccaatgacTctgagcaagcgaaggtgttc	11	8	2	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr18:19239206T>C	ENST00000289119.2	-	6	906	c.767A>G	c.(766-768)gAg>gGg	p.E256G	RP11-13N13.5_ENST00000584148.1_RNA|ABHD3_ENST00000580981.1_Missense_Mutation_p.E203G|ABHD3_ENST00000578270.1_Missense_Mutation_p.E61G	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	256						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TTCCAATGACTCTGAGCAAGC	0.398																																																	0													86	89	88					18																	19239206		2203	4300	6503	SO:0001583	missense	171586			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"Abhydrolase domain containing"	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.767A>G	18.37:g.19239206T>C	ENSP00000289119:p.Glu256Gly		B0YIV0|B7Z5C2|O43411	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.E256G	ENST00000289119.2	37	c.767	CCDS32802.1	18	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136600	0.37728	.	.	ENSG00000158201	ENST00000289119	T	0.10288	2.89	5.5	5.5	0.81552	.	0.147316	0.64402	D	0.000010	T	0.13030	0.0316	L	0.55103	1.725	0.39488	D	0.968006	B	0.19935	0.04	B	0.29440	0.102	T	0.08973	-1.0696	10	0.26408	T	0.33	-0.4332	10.7985	0.46474	0.1413:0.0:0.0:0.8587	.	256	Q8WU67	ABHD3_HUMAN	G	256	ENSP00000289119:E256G	ENSP00000289119:E256G	E	-	2	0	ABHD3	17493204	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	2.377000	0.44300	2.093000	0.63338	0.528000	0.53228	GAG	ABHD3	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT		0.398	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD3	HGNC	protein_coding	OTTHUMT00000444757.1	T			19239206	-1	no_errors	ENST00000289119	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19239206	T	C	19239206	3	2	163	1	0	0	0	0	1	0	0	0	83	1551	54	5	478	5	ABHD3	18	19239206	Missense_Mutation	SNP	T	TCGA-JX-A3PZ-01A-11D-A21Q-09	6138838	19239206	58838042	44	30772										
ABCA7	10347	genome.wustl.edu	37	chr19	1050958	1050958	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cttcccacccagtggtggctCtgccttcatcctgggccacg	10	17	2	0			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr19:1050958C>G	ENST00000263094.6	+	19	2822	c.2591C>G	c.(2590-2592)tCt>tGt	p.S864C	ABCA7_ENST00000433129.1_Missense_Mutation_p.S864C|ABCA7_ENST00000435683.2_Missense_Mutation_p.S726C	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	864	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGGTGGCTCTGCCTTCATC	0.607																																																	0													62	63	63					19																	1050958		2197	4286	6483	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2591C>G	19.37:g.1050958C>G	ENSP00000263094:p.Ser864Cys		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S864C	ENST00000263094.6	37	c.2591	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765187	0.49574	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.94280	-3.39;-3.39	3.66	3.66	0.41972	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.97025	0.9028	M	0.91561	3.22	0.42057	D	0.991147	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.984	D	0.97925	1.0317	9	0.87932	D	0	.	13.6496	0.62304	0.0:1.0:0.0:0.0	.	726;864	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	C	864	ENSP00000263094:S864C;ENSP00000414062:S864C	ENSP00000263094:S864C	S	+	2	0	ABCA7	1001958	0.996000	0.38824	0.857000	0.33713	0.070000	0.16714	7.583000	0.82559	1.996000	0.58369	0.462000	0.41574	TCT	ABCA7	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.607	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	C	NM_019112		1050958	1	no_errors	ENST00000263094	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1050958	C	G	1050958	3	3	163	1	0	0	0	0	1	0	0	0	37	913	32	1	2661	1	ABCA7	19	1050958	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09		1050958	58078025	45	30773										
ZNF492	57615	genome.wustl.edu	37	chr19	22847093	22847093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	agtgtggaaaagcctttaacCggctctcacaccttactaca	7	12	1	0			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr19:22847093C>T	ENST00000456783.2	+	4	866	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGCCTTTAACCGGCTCTCACA	0.393																																																	0													10	13	12					19																	22847093		1785	4063	5848	SO:0001583	missense	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.622C>T	19.37:g.22847093C>T	ENSP00000413660:p.Arg208Trp		Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R208W	ENST00000456783.2	37	c.622	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	2.429	-0.331310	0.05314	.	.	ENSG00000229676	ENST00000456783	T	0.07444	3.19	1.3	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04770	0.0129	N	0.25485	0.75	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41680	-0.9495	9	0.31617	T	0.26	.	3.6498	0.08199	0.4255:0.3608:0.2137:0.0	.	208	Q9P255	ZN492_HUMAN	W	208	ENSP00000413660:R208W	ENSP00000413660:R208W	R	+	1	2	ZNF492	22638933	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-5.618000	0.00109	-0.540000	0.06265	0.274000	0.19336	CGG	ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	C	NM_020855		22847093	1	no_errors	ENST00000456783	ensembl	human	known	70_37	missense	SNP	0.000	T	T	22847093	C	T	22847093	3	4	163	1	0	0	0	0	1	0	0	0	17973	643	23	2	632	2	ZNF492	19	22847093	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	21796135	22847093	36281890	46	30774										
KLK14	43847	genome.wustl.edu	37	chr19	51584836	51584836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	acccactggcctgaaagcagGgcgcctccgcagaggaagcg	14	14	0	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr19:51584836G>A	ENST00000156499.2	-	4	431	c.213C>T	c.(211-213)gcC>gcT	p.A71A	KLK14_ENST00000391802.1_Silent_p.A71A			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	71	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CTGAAAGCAGGGCGCCTCCGC	0.642																																					GBM(117;2161 2172 2448 22911)												0													14	14	14					19																	51584836		1821	3933	5754	SO:0001819	synonymous_variant	43847			AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"Kallikreins"	6362	protein-coding gene	gene with protein product		606135	"kallikrein 14"			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.213C>T	19.37:g.51584836G>A			A7UNK5|Q1RMZ2|Q6B089	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A71	ENST00000156499.2	37	c.213	CCDS12823.2	19																																																																																			KLK14	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.642	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK14	HGNC	protein_coding	OTTHUMT00000289774.2	G	NM_022046		51584836	-1	no_errors	ENST00000156499	ensembl	human	known	70_37	silent	SNP	0.927	A	A	51584836	G	A	51584836	2	1	163	1	0	0	0	0	0	0	0	1	8422	1219	43	4		4	KLK14	19	51584836	Silent	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	28737743	51584836	7544147	47	30775										
NLRP8	126205	genome.wustl.edu	37	chr19	56463942	56463942	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	aaccagaggacttgaatgtgGgagaaacacaggtgaatctg	13	6	1	4	rs534631410	byFrequency	TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr19:56463942G>T	ENST00000291971.3	+	2	477	c.406G>T	c.(406-408)Gga>Tga	p.G136*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.G136*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	136					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTGAATGTGGGAGAAACACA	0.488																																																	0													175	160	165					19																	56463942		2203	4300	6503	SO:0001587	stop_gained	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.406G>T	19.37:g.56463942G>T	ENSP00000291971:p.Gly136*		Q7RTR4	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G136*	ENST00000291971.3	37	c.406	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613873	0.46631	.	.	ENSG00000179709	ENST00000291971	.	.	.	1.54	-0.742	0.11108	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	4.2801	0.10829	0.5522:0.0:0.4478:0.0	.	.	.	.	X	136	.	ENSP00000291971:G136X	G	+	1	0	NLRP8	61155754	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.617000	0.05584	-0.281000	0.09141	-0.507000	0.04495	GGA	NLRP8	-	NULL		0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	G	NM_176811		56463942	1	no_errors	ENST00000291971	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	56463942	G	T	56463942	4	4	163	1	0	0	0	0	0	1	0	0	10507	1233	43	4	412	4	NLRP8	19	56463942	Nonsense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	4879106	56463942	2665041	48	30776										
NOP56	10528	genome.wustl.edu	37	chr20	2635525	2635525	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	gtgaaccgggtggacaatatGatcatccagtccattagcct	10	10	1	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr20:2635525G>A	ENST00000329276.5	+	5	1017	c.501G>A	c.(499-501)atG>atA	p.M167I	SNORD110_ENST00000408189.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORA51_ENST00000606420.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	167					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGGACAATATGATCATCCAGT	0.502																																																	0													167	163	164					20																	2635525		2203	4300	6503	SO:0001583	missense	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.501G>A	20.37:g.2635525G>A	ENSP00000370589:p.Met167Ile		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.M167I	ENST00000329276.5	37	c.501	CCDS13030.1	20	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360143	0.82353	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	D;D	0.84442	-1.85;-1.85	5.89	4.94	0.65067	NOSIC (2);	0.000000	0.85682	D	0.000000	D	0.92338	0.7569	M	0.93197	3.39	0.80722	D	1	P	0.49696	0.927	P	0.54706	0.759	D	0.93662	0.6982	10	0.72032	D	0.01	-34.2421	12.8657	0.57937	0.0786:0.0:0.9214:0.0	.	167	O00567	NOP56_HUMAN	I	167	ENSP00000370589:M167I;ENSP00000388497:M167I	ENSP00000370589:M167I	M	+	3	0	NOP56	2583525	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.603000	0.98315	1.494000	0.48533	-0.266000	0.10368	ATG	NOP56	-	pfam_NOSIC,smart_NOSIC		0.502	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2	G	NM_006392		2635525	1	no_errors	ENST00000329276	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2635525	G	A	2635525	3	1	163	1	0	0	0	0	1	0	0	0	10563	1290	45	1	519	1	NOP56	20	2635525	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09		2635525	60389995	49	30777										
VPS16	64601	genome.wustl.edu	37	chr20	2845875	2845875	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	gccagttcctagacctgtctCtacatgacacagttaccacc	6	15	1	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr20:2845875C>T	ENST00000380445.3	+	21	2158	c.2086C>T	c.(2086-2088)Cta>Tta	p.L696L	PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Silent_p.L382L|VPS16_ENST00000380469.3_Silent_p.L552L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	696					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGACCTGTCTCTACATGACAC	0.587																																																	0													83	76	78					20																	2845875		2203	4300	6503	SO:0001819	synonymous_variant	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2086C>T	20.37:g.2845875C>T			Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.L696	ENST00000380445.3	37	c.2086	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_C,pirsf_VPS16		0.587	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	C	NM_022575		2845875	1	no_errors	ENST00000380445	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2845875	C	T	2845875	2	4	163	1	0	0	0	0	0	0	0	1	17224	912	32	1		1	VPS16	20	2845875	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	210350	2845875	60179645	50	30778										
PAK7	57144	genome.wustl.edu	37	chr20	9561269	9561269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	ccgtgcttcattttcattacGtgcccattttgcttggctgc	8	12	2	0			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr20:9561269G>A	ENST00000378429.3	-	5	1059	c.513C>T	c.(511-513)caC>caT	p.H171H	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Silent_p.H171H|PAK7_ENST00000353224.5_Silent_p.H171H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	171	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTTCATTACGTGCCCATTTT	0.468																																																	0													157	151	153					20																	9561269		2203	4300	6503	SO:0001819	synonymous_variant	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.513C>T	20.37:g.9561269G>A			A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.H171	ENST00000378429.3	37	c.513	CCDS13107.1	20																																																																																			PAK7	-	NULL		0.468	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	G			9561269	-1	no_errors	ENST00000353224	ensembl	human	known	70_37	silent	SNP	0.021	A	A	9561269	G	A	9561269	2	1	163	1	0	0	0	0	0	0	0	1	11429	1136	40	2		2	PAK7	20	9561269	Silent	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	6715394	9561269	53464251	51	30779										
MAP1LC3A	84557	genome.wustl.edu	37	chr20	33147555	33147555	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	tgcaggcgccgcctgcagctGaaccccacgcaggccttctt	11	17	1	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr20:33147555G>C	ENST00000360668.3	+	4	980	c.219G>C	c.(217-219)ctG>ctC	p.L73L	MAP1LC3A_ENST00000397709.1_Silent_p.L73L|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Silent_p.L77L			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	73					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						GCCTGCAGCTGAACCCCACGC	0.637																																																	0													37	45	43					20																	33147555		2201	4295	6496	SO:0001819	synonymous_variant	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.219G>C	20.37:g.33147555G>C			E1P5P4|E1P5P5|Q9BXW5	Silent	SNP	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.L73	ENST00000360668.3	37	c.219	CCDS13238.1	20																																																																																			MAP1LC3A	-	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12		0.637	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3A	HGNC	protein_coding	OTTHUMT00000078801.2	G	NM_181509		33147555	1	no_errors	ENST00000360668	ensembl	human	known	70_37	silent	SNP	1.000	C	C	33147555	G	C	33147555	2	2	163	1	0	0	0	0	0	0	0	1	9253	1277	45	1		1	MAP1LC3A	20	33147555	Silent	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	23586286	33147555	29877965	52	30780										
RBM12	10137	genome.wustl.edu	37	chr20	34242510	34242510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	acaggtggcggattcaagggCggcatgcccgacatgggtgg	18	9	1	0			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr20:34242510C>T	ENST00000374114.3	-	3	998	c.735G>A	c.(733-735)ccG>ccA	p.P245P	CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Silent_p.P245P|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Silent_p.P245P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	245	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GATTCAAGGGCGGCATGCCCG	0.552																																																	0													73	72	72					20																	34242510		2203	4300	6503	SO:0001819	synonymous_variant	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.735G>A	20.37:g.34242510C>T			B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P245	ENST00000374114.3	37	c.735	CCDS13261.1	20																																																																																			RBM12	-	NULL		0.552	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	C	NM_006047		34242510	-1	no_errors	ENST00000359646	ensembl	human	known	70_37	silent	SNP	0.836	T	T	34242510	C	T	34242510	2	4	163	1	0	0	0	0	0	0	0	1	13143	755	27	2		2	RBM12	20	34242510	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	1094955	34242510	28783010	53	30781										
MYL9	10398	genome.wustl.edu	37	chr20	35173466	35173466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cctgcacgacatgctggcctCgctgggtgagctgggacagg	16	12	0	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr20:35173466C>T	ENST00000279022.2	+	2	283	c.179C>T	c.(178-180)tCg>tTg	p.S60L	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.S60L	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	60	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGCTGGCCTCGCTGGGTGAG	0.567																																																	0													74	68	70					20																	35173466		2203	4300	6503	SO:0001583	missense	10398			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"Myosins / Light chain", "EF-hand domain containing"	15754	protein-coding gene	gene with protein product	"myosin regulatory light chain 2, smooth muscle isoform", "myosin regulatory light chain 1"	609905	"myosin, light polypeptide 9, regulatory"			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.179C>T	20.37:g.35173466C>T	ENSP00000279022:p.Ser60Leu		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S60L	ENST00000279022.2	37	c.179	CCDS13276.1	20	.	.	.	.	.	.	.	.	.	.	C	31	5.091342	0.94149	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.70869	-0.52;-0.08	4.67	4.67	0.58626	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	M	0.87038	2.855	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.983	D	0.88813	0.3293	10	0.87932	D	0	.	16.5061	0.84272	0.0:1.0:0.0:0.0	.	60;60	Q9BUF9;P24844	.;MYL9_HUMAN	L	60	ENSP00000279022:S60L;ENSP00000217313:S60L	ENSP00000279022:S60L	S	+	2	0	MYL9	34606880	1.000000	0.71417	0.937000	0.37676	0.967000	0.64934	7.818000	0.86416	2.299000	0.77371	0.655000	0.94253	TCG	MYL9	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.567	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL9	HGNC	protein_coding	OTTHUMT00000079015.2	C	NM_006097		35173466	1	no_errors	ENST00000279022	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35173466	C	T	35173466	3	4	163	1	0	0	0	0	1	0	0	0	10077	893	31	1	181	1	MYL9	20	35173466	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	930956	35173466	27852054	54	30782										
PRIC285	85441	genome.wustl.edu	37	chr20	62196447	62196447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cacgctgcagccggcccttcCggaggctgtagatggggacc	15	14	0	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr20:62196447C>T	ENST00000467148.1	-	8	3797	c.3728G>A	c.(3727-3729)cGg>cAg	p.R1243Q	HELZ2_ENST00000427522.2_Missense_Mutation_p.R674Q	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1243					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCGGCCCTTCCGGAGGCTGTA	0.652																																																	0													14	14	14					20																	62196447		2151	4264	6415	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3728G>A	20.37:g.62196447C>T	ENSP00000417401:p.Arg1243Gln		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.R1243Q	ENST00000467148.1	37	c.3728	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	2.036	-0.421107	0.04734	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79141	-1.24;-1.14	4.78	-8.29	0.01009	.	2.929330	0.01109	N	0.005534	T	0.43634	0.1256	N	0.01352	-0.895	0.09310	N	1	B;B	0.22414	0.041;0.069	B;B	0.09377	0.004;0.004	T	0.46345	-0.9198	10	0.13108	T	0.6	-1.0859	7.6981	0.28606	0.267:0.41:0.0:0.3231	.	1243;674	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	Q	674;1243	ENSP00000393257:R674Q;ENSP00000417401:R1243Q	ENSP00000393257:R674Q	R	-	2	0	RP4-697K14.7	61666891	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.351000	0.07711	-0.937000	0.03719	-0.448000	0.05591	CGG	HELZ2	-	NULL		0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62196447	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.000	T	T	62196447	C	T	62196447	3	4	163	1	0	0	0	0	1	0	0	0	12512	652	23	2	4269	2	PRIC285	20	62196447	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	27022981	62196447	829073	55	30783										
SNRPD3	6634	genome.wustl.edu	37	chr22	24964112	24964112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	aaaccaaggctcaggggctgGccgaggaaaagctgctattc	13	10	1	0			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr22:24964112G>T	ENST00000215829.3	+	3	874	c.287G>T	c.(286-288)gGc>gTc	p.G96V	SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96V	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	96	Arg/Lys-rich (basic).				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						TCAGGGGCTGGCCGAGGAAAA	0.453																																																	0													56	52	54					22																	24964112		2203	4300	6503	SO:0001583	missense	6634			U15009	CCDS13828.1	22q11.23	2011-10-11	2002-08-29		ENSG00000100028	ENSG00000100028			11160	protein-coding gene	gene with protein product		601062	"small nuclear ribonucleoprotein D3 polypeptide (18kD)"			1701240, 7527560	Standard	NM_004175		Approved	SMD3, Sm-D3	uc003aam.1	P62318	OTTHUMG00000150727	ENST00000215829.3:c.287G>T	22.37:g.24964112G>T	ENSP00000215829:p.Gly96Val		B4DJP7|B5BU13|P43331	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.G96V	ENST00000215829.3	37	c.287	CCDS13828.1	22	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443719	0.83993	.	.	ENSG00000100028	ENST00000215829;ENST00000402849	T;T	0.49139	0.79;0.79	6.08	6.08	0.98989	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.80422	2.495	0.80722	D	1	P;B	0.52316	0.952;0.065	P;B	0.55667	0.781;0.094	T	0.67102	-0.5755	10	0.51188	T	0.08	.	17.8207	0.88649	0.0:0.0:1.0:0.0	.	96;96	B4DJP7;P62318	.;SMD3_HUMAN	V	96	ENSP00000215829:G96V;ENSP00000385266:G96V	ENSP00000385994:G96V	G	+	2	0	SNRPD3	23294112	1.000000	0.71417	0.964000	0.40570	0.990000	0.78478	7.386000	0.79775	2.890000	0.99128	0.655000	0.94253	GGC	SNRPD3	-	superfamily_LSM_dom		0.453	SNRPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD3	HGNC	protein_coding	OTTHUMT00000319813.1	G	NM_004175		24964112	1	no_errors	ENST00000215829	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24964112	G	T	24964112	3	4	163	1	0	0	0	0	1	0	0	0	14896	1203	42	4	293	4	SNRPD3	22	24964112	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09		24964112	26340454	56	30784										
SH3BP1	23616	genome.wustl.edu	37	chr22	38041472	38041472	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cgggagattgccctgcccatCgaggcctgcgtcatgatgct	13	13	1	2			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr22:38041472C>T	ENST00000357436.4	+	10	1192	c.879C>T	c.(877-879)atC>atT	p.I293I	SH3BP1_ENST00000336738.5_Silent_p.I293I|SH3BP1_ENST00000442465.2_Silent_p.I293I|SH3BP1_ENST00000599616.1_Silent_p.I229I|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	293	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCCTGCCCATCGAGGCCTGCG	0.637																																																	0													85	82	83					22																	38041472		2203	4300	6503	SO:0001819	synonymous_variant	23616				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.879C>T	22.37:g.38041472C>T			Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.I293	ENST00000357436.4	37	c.879	CCDS13952.2	22																																																																																			SH3BP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.637	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4	C	NM_018957		38041472	1	no_errors	ENST00000357436	ensembl	human	known	70_37	silent	SNP	0.494	T	T	38041472	C	T	38041472	2	4	163	1	0	0	0	0	0	0	0	1	14274	874	31	1		1	SH3BP1	22	38041472	Silent	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	13077360	38041472	13263094	57	30785										
APOBEC3G	60489	genome.wustl.edu	37	chr22	39477172	39477172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	cagattaccaggaggcgcttCgcagcctgtgtcagaaaaga	12	10	1	3	rs142694979	byFrequency	TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chr22:39477172C>T	ENST00000407997.3	+	3	763	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R136C	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	136					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GGAGGCGCTTCGCAGCCTGTG	0.562																																																	0								C	CYS/ARG	4,4402		0,4,2199	82	81	82		406	-3.5	0	22	dbSNP_134	82	0,8600		0,0,4300	no	missense	APOBEC3G	NM_021822.3	180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	136/385	39477172	4,13002	2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.406C>T	22.37:g.39477172C>T	ENSP00000385057:p.Arg136Cys		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R136C	ENST00000407997.3	37	c.406	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	7.721	0.697190	0.15106	9.08E-4	0.0	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.71698	-0.59;-0.59	2.02	-3.49	0.04724	APOBEC-like, C-terminal (1);	.	.	.	.	T	0.68760	0.3036	L	0.37850	1.14	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.58255	-0.7668	9	0.46703	T	0.11	.	2.7885	0.05380	0.2155:0.2918:0.0:0.4926	.	136	Q9HC16	ABC3G_HUMAN	C	136	ENSP00000413376:R136C;ENSP00000385057:R136C	ENSP00000385057:R136C	R	+	1	0	APOBEC3G	37807118	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.065000	0.11617	-0.872000	0.04037	0.462000	0.41574	CGC	APOBEC3G	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like		0.562	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	C	NM_021822		39477172	1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.000	T	T	39477172	C	T	39477172	3	4	163	1	0	0	0	0	1	0	0	0	794	884	31	1	416	1	APOBEC3G	22	39477172	Missense_Mutation	SNP	C	TCGA-JX-A3PZ-01A-11D-A21Q-09	1435700	39477172	11827394	58	30786										
FOXR2	139628	genome.wustl.edu	37	chrX	55650327	55650327	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	aagcccccagaaatgcctcaGaagaggagacccagtcctga	10	13	1	5			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chrX:55650327G>A	ENST00000339140.3	+	1	495	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	61					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAATGCCTCAGAAGAGGAGAC	0.527																																																	0													88	81	83					X																	55650327		2203	4300	6503	SO:0001819	synonymous_variant	139628			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.183G>A	X.37:g.55650327G>A				Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.Q61	ENST00000339140.3	37	c.183	CCDS35308.1	X																																																																																			FOXR2	-	NULL		0.527	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR2	HGNC	protein_coding	OTTHUMT00000056877.2	G	NM_198451		55650327	1	no_errors	ENST00000339140	ensembl	human	known	70_37	silent	SNP	0.015	A	A	55650327	G	A	55650327	2	1	163	1	0	0	0	0	0	0	0	1	6050	933	33	1		1	FOXR2	23	55650327	Silent	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09		55650327	99620233	59	30787										
AR	367	genome.wustl.edu	37	chrX	66937348	66937348	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.383333333333333	23	1.84170686413296e-08	3.65608672936259	5.82854406130268	2.84141522988506	0.563923490719105	0.772585272678265	17	aacttacacgtggacgaccaGatggctgtcattcagtactc	9	11	2	1			TCGA-JX-A3PZ-01A-11D-A21Q-09	TCGA-JX-A3PZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780c38c5-f1fa-4885-a0f9-ced48cf123c9	a37dd07d-ef81-4183-904e-1cdb09139d9b	g.chrX:66937348G>C	ENST00000374690.3	+	5	2726	c.2202G>C	c.(2200-2202)caG>caC	p.Q734H	AR_ENST00000396043.2_Missense_Mutation_p.Q202H|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	733	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGGACGACCAGATGGCTGTCA	0.557									Androgen Insensitivity Syndrome																																								0			GRCh37	CM983649	AR	M							133	89	104					X																	66937348		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2202G>C	X.37:g.66937348G>C	ENSP00000363822:p.Gln734His		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q734H	ENST00000374690.3	37	c.2202	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	g	18.19	3.569864	0.65765	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	D;D	0.99901	-7.65;-7.65	4.99	4.99	0.66335	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.96886	0.9649	10	0.87932	D	0	.	8.1717	0.31258	0.1073:0.0:0.8927:0.0	.	202;733	F1D8N5;P10275	.;ANDR_HUMAN	H	544;734;202	ENSP00000363822:Q734H;ENSP00000379358:Q202H	ENSP00000363822:Q734H	Q	+	3	2	AR	66854073	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.941000	0.40233	2.306000	0.77630	0.597000	0.82753	CAG	AR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.557	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66937348	1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66937348	G	C	66937348	3	2	163	1	0	0	0	0	1	0	0	0	836	933	33	1	2244	1	AR	23	66937348	Missense_Mutation	SNP	G	TCGA-JX-A3PZ-01A-11D-A21Q-09	11287021	66937348	88333212	60	30788										
ACAP3	116983	genome.wustl.edu	37	chr1	1238334	1238334	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caccacctcctgtaggctgtCagcgaacctctgcagacatt	8	15	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:1238334C>T	ENST00000354700.5	-	4	449	c.247G>A	c.(247-249)Gac>Aac	p.D83N	ACAP3_ENST00000353662.3_Missense_Mutation_p.D41N	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	83					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TGTAGGCTGTCAGCGAACCTC	0.652																																																	0													66	51	56					1																	1238334		2197	4294	6491	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.247G>A	1.37:g.1238334C>T	ENSP00000346733:p.Asp83Asn		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.D41N	ENST00000354700.5	37	c.121	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307373	0.40795	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.00502	6.95;6.95	3.92	3.92	0.45320	IRSp53/MIM homology domain (IMD) (1);	0.060855	0.64402	D	0.000004	T	0.00637	0.0021	L	0.56769	1.78	0.41592	D	0.988804	B;P;P	0.41848	0.198;0.704;0.763	B;B;B	0.42282	0.108;0.197;0.382	D	0.83999	0.0342	10	0.18276	T	0.48	.	15.4793	0.75511	0.0:1.0:0.0:0.0	.	123;83;41	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	N	83;41	ENSP00000346733:D83N;ENSP00000321139:D41N	ENSP00000321139:D41N	D	-	1	0	ACAP3	1228197	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	4.370000	0.59517	2.197000	0.70478	0.561000	0.74099	GAC	ACAP3	-	NULL		0.652	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2	C	NM_030649		1238334	-1	no_errors	ENST00000353662	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1238334	C	T	1238334	3	4	164	1	0	0	0	0	1	0	0	0	120	826	29	1	2341	1	ACAP3	1	1238334	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09		1238334	248012287	1	30789										
PUSL1	126789	genome.wustl.edu	37	chr1	1246426	1246426	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccagcccacggcttattcctCaagtcagtgctgtacgggaa	10	13	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:1246426C>G	ENST00000379031.5	+	7	914	c.837C>G	c.(835-837)ctC>ctG	p.L279L	CPSF3L_ENST00000462432.1_5'Flank	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	279					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTTATTCCTCAAGTCAGTGC	0.602																																																	0													61	66	65					1																	1246426		2203	4295	6498	SO:0001819	synonymous_variant	126789			AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.837C>G	1.37:g.1246426C>G			B4DP76|Q5TA41	Silent	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA	p.L279	ENST00000379031.5	37	c.837	CCDS20.1	1																																																																																			PUSL1	-	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA		0.602	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUSL1	HGNC	protein_coding	OTTHUMT00000009438.1	C	NM_153339		1246426	1	no_errors	ENST00000379031	ensembl	human	known	70_37	silent	SNP	0.037	G	G	1246426	C	G	1246426	2	3	164	1	0	0	0	0	0	0	0	1	12865	813	29	1		1	PUSL1	1	1246426	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8092	1246426	248004195	2	30790										
SKI	6497	genome.wustl.edu	37	chr1	2235502	2235502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgccccagaggaggacaagGactcggaggcggaggtggaa	18	9	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:2235502G>A	ENST00000378536.4	+	4	1507	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	479					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGAGGACAAGGACTCGGAGGC	0.647																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0													38	29	32					1																	2235502		2201	4299	6500	SO:0001583	missense	6497			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1435G>A	1.37:g.2235502G>A	ENSP00000367797:p.Asp479Asn		Q5SYT7	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.D479N	ENST00000378536.4	37	c.1435	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011464	0.35511	.	.	ENSG00000157933	ENST00000378536	D	0.95821	-3.82	4.08	4.08	0.47627	.	0.188681	0.44902	D	0.000412	D	0.92107	0.7498	L	0.39898	1.24	0.28055	N	0.933221	B	0.18461	0.028	B	0.14578	0.011	D	0.84405	0.0562	10	0.30854	T	0.27	-26.1515	15.8102	0.78557	0.0:0.0:1.0:0.0	.	479	P12755	SKI_HUMAN	N	479	ENSP00000367797:D479N	ENSP00000367797:D479N	D	+	1	0	SKI	2225362	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	6.805000	0.75191	2.264000	0.75181	0.561000	0.74099	GAC	SKI	-	NULL		0.647	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	G	NM_003036		2235502	1	no_errors	ENST00000378536	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2235502	G	A	2235502	3	1	164	1	0	0	0	0	1	0	0	0	14387	1174	41	1	1449	1	SKI	1	2235502	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	989076	2235502	247015119	3	30791										
CHD5	26038	genome.wustl.edu	37	chr1	6211203	6211203	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gaagtccgactcctccctctCatcttcttcactctgcaggg	7	16	5	0	rs267598681		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:6211203C>T	ENST00000262450.3	-	7	982	c.883G>A	c.(883-885)Gag>Aag	p.E295K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E295K(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCCCTCTCATCTTCTTCA	0.622																																																	1	Substitution - Missense(1)	breast(1)											86	74	78					1																	6211203		2203	4300	6503	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.883G>A	1.37:g.6211203C>T	ENSP00000262450:p.Glu295Lys		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E295K	ENST00000262450.3	37	c.883	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	c	6.588	0.476777	0.12521	.	.	ENSG00000116254	ENST00000262450	D	0.90676	-2.71	4.0	3.07	0.35406	.	0.222920	0.31821	U	0.007001	D	0.85919	0.5809	L	0.47716	1.5	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.79310	-0.1856	10	0.19590	T	0.45	-14.5078	13.9665	0.64211	0.0:0.847:0.153:0.0	.	295	Q8TDI0	CHD5_HUMAN	K	295	ENSP00000262450:E295K	ENSP00000262450:E295K	E	-	1	0	CHD5	6133790	0.987000	0.35691	0.657000	0.29651	0.177000	0.22998	2.849000	0.48286	0.810000	0.34279	0.457000	0.33378	GAG	CHD5	-	NULL		0.622	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	C	NM_015557		6211203	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	missense	SNP	0.959	T	T	6211203	C	T	6211203	3	4	164	1	0	0	0	0	1	0	0	0	3333	835	29	1	5121	1	CHD5	1	6211203	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3975701	6211203	243039418	4	30792										
PIK3CD	5293	genome.wustl.edu	37	chr1	9784991	9784991	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tccaaagacatccagtatctCaaggtatgtgccgggcagga	11	10	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:9784991C>T	ENST00000377346.4	+	23	3189	c.2994C>T	c.(2992-2994)ctC>ctT	p.L998L	PIK3CD_ENST00000361110.2_Silent_p.L1022L|PIK3CD_ENST00000536656.1_Silent_p.L1022L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	998	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCCAGTATCTCAAGGTATGTG	0.627											OREG0013083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44	42	42					1																	9784991		2203	4300	6503	SO:0001819	synonymous_variant	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2994C>T	1.37:g.9784991C>T		659	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L1022	ENST00000377346.4	37	c.3066	CCDS104.1	1																																																																																			PIK3CD	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.627	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	C	NM_005026		9784991	1	no_errors	ENST00000536656	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9784991	C	T	9784991	2	4	164	1	0	0	0	0	0	0	0	1	11939	813	29	1		1	PIK3CD	1	9784991	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3573788	9784991	239465630	5	30793										
KIF1B	23095	genome.wustl.edu	37	chr1	10328298	10328298	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccagaagaaacacgataatGagaccaacctttccactgag	7	12	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:10328298G>A	ENST00000377086.1	+	7	899	c.697G>A	c.(697-699)Gag>Aag	p.E233K	KIF1B_ENST00000377081.1_Missense_Mutation_p.E233K|KIF1B_ENST00000377083.1_Missense_Mutation_p.E233K|KIF1B_ENST00000263934.6_Missense_Mutation_p.E233K|KIF1B_ENST00000377093.4_Missense_Mutation_p.E233K			O60333	KIF1B_HUMAN	kinesin family member 1B	233	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACACGATAATGAGACCAACCT	0.433																																																	0													92	79	84					1																	10328298		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.697G>A	1.37:g.10328298G>A	ENSP00000366290:p.Glu233Lys		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E233K	ENST00000377086.1	37	c.697		1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926631	0.73327	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.94	5.94	0.96194	Kinesin, motor domain (4);	0.052117	0.85682	D	0.000000	D	0.84234	0.5427	L	0.35414	1.06	0.58432	D	0.999998	B;B;B;B;B;B;B	0.29646	0.002;0.003;0.003;0.041;0.002;0.253;0.02	B;B;B;B;B;B;B	0.24155	0.002;0.005;0.002;0.014;0.003;0.051;0.009	T	0.79458	-0.1795	10	0.25106	T	0.35	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	233;233;233;233;233;233;233	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	K	233	ENSP00000263934:E233K;ENSP00000366297:E233K;ENSP00000366290:E233K;ENSP00000366287:E233K;ENSP00000366284:E233K	ENSP00000263934:E233K	E	+	1	0	KIF1B	10250885	1.000000	0.71417	0.970000	0.41538	0.981000	0.71138	7.935000	0.87658	2.820000	0.97059	0.650000	0.86243	GAG	KIF1B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.433	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10328298	1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10328298	G	A	10328298	3	1	164	1	0	0	0	0	1	0	0	0	8304	1291	45	1	719	1	KIF1B	1	10328298	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	543307	10328298	238922323	6	30794										
CLCN6	1185	genome.wustl.edu	37	chr1	11894623	11894623	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggcgtgccgcttctggaatGggagacagaggtggaaatgg	18	6	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:11894623G>A	ENST00000346436.6	+	17	1821	c.1769G>A	c.(1768-1770)tGg>tAg	p.W590*	CLCN6_ENST00000376487.3_Nonsense_Mutation_p.W568*|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Nonsense_Mutation_p.W590*	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	590					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTGGAATGGGAGACAGAG	0.468																																																	0													123	125	124					1																	11894623		2203	4300	6503	SO:0001587	stop_gained	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1769G>A	1.37:g.11894623G>A	ENSP00000234488:p.Trp590*		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Nonsense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.W590*	ENST00000346436.6	37	c.1769	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.227299	0.95173	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.5281	17.9387	0.89020	0.0:0.0:1.0:0.0	.	.	.	.	X	590;568;590	.	ENSP00000234488:W590X	W	+	2	0	CLCN6	11817210	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.434000	0.97515	2.468000	0.83385	0.462000	0.41574	TGG	CLCN6	-	superfamily_Cl-channel_core		0.468	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	G	NM_001286		11894623	1	no_errors	ENST00000346436	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	11894623	G	A	11894623	4	1	164	1	0	0	0	0	0	1	0	0	3472	1357	47	4	1845	4	CLCN6	1	11894623	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1566325	11894623	237355998	7	30795										
PRDM2	7799	genome.wustl.edu	37	chr1	14105433	14105434	+	Missense_Mutation	DNP	CC	CC	TT													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cttgagcgtcacatgcatatCcatatatccaccgtcaatca							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:14105433_14105434CC>TT	ENST00000235372.7	+	8	1999_2000	c.1143_1144CC>TT	c.(1141-1146)atCCat>atTTat	p.H382Y	PRDM2_ENST00000343137.4_Missense_Mutation_p.H181Y|PRDM2_ENST00000311066.5_Missense_Mutation_p.H382Y|PRDM2_ENST00000413440.1_Missense_Mutation_p.H181Y|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACATGCATATCCATATATCCAC	0.465																																																	0																																										SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	Exception_encountered	1.37:g.14105433_14105434delinsTT	ENSP00000235372:p.His382Tyr		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent|Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.I381|p.H382Y	ENST00000235372.7	37	c.1143|c.1144	CCDS150.1	1																																																																																			PRDM2	-	smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2		0.465	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	C	NM_012231		14105433|14105434	1	no_errors	ENST00000235372	ensembl	human	known	70_37	silent|missense	SNP	1.000	T	TT	14105434	CC	TT	14105433	3	4	164	1	0	0	0	0	1	0	0	0	12485	845	30	1	1169	1	PRDM2	1	14105433	Missense_Mutation	DNP	CC	TCGA-JX-A3Q0-01A-11D-A21Q-09	2210810	14105433	235145188	8	30796										
SPEN	23013	genome.wustl.edu	37	chr1	16259513	16259513	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacaggcgctgcagccttctGaggaaggaatggagacagat	14	9	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:16259513G>A	ENST00000375759.3	+	11	6982	c.6778G>A	c.(6778-6780)Gag>Aag	p.E2260K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2260	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCAGCCTTCTGAGGAAGGAAT	0.562																																																	0													86	93	90					1																	16259513		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6778G>A	1.37:g.16259513G>A	ENSP00000364912:p.Glu2260Lys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E2260K	ENST00000375759.3	37	c.6778	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	2.639	-0.284689	0.05605	.	.	ENSG00000065526	ENST00000375759	T	0.09911	2.93	4.68	2.56	0.30785	.	.	.	.	.	T	0.07369	0.0186	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.26121	-1.0112	9	0.08599	T	0.76	-5.3821	13.3673	0.60692	0.0:0.4039:0.5961:0.0	.	2260	Q96T58	MINT_HUMAN	K	2260	ENSP00000364912:E2260K	ENSP00000364912:E2260K	E	+	1	0	SPEN	16132100	0.294000	0.24380	0.479000	0.27329	0.118000	0.20060	1.410000	0.34691	2.139000	0.66308	0.462000	0.41574	GAG	SPEN	-	NULL		0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16259513	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.147	A	A	16259513	G	A	16259513	3	1	164	1	0	0	0	0	1	0	0	0	15068	1291	45	1	6820	1	SPEN	1	16259513	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2154080	16259513	232991108	9	30797										
EPHA2	1969	genome.wustl.edu	37	chr1	16475146	16475146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgccacacaggcaccgatatCctggaaggccaggtagaagc	12	13	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:16475146C>T	ENST00000358432.5	-	3	704	c.550G>A	c.(550-552)Gat>Aat	p.D184N	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	184	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCACCGATATCCTGGAAGGCC	0.652																																																	0													62	59	60					1																	16475146		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.550G>A	1.37:g.16475146C>T	ENSP00000351209:p.Asp184Asn		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D184N	ENST00000358432.5	37	c.550	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565959	0.86439	.	.	ENSG00000142627	ENST00000358432	T	0.12147	2.71	5.14	5.14	0.70334	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000019	T	0.38931	0.1059	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.23440	-1.0188	10	0.87932	D	0	.	16.0881	0.81073	0.0:1.0:0.0:0.0	.	184;184	B5A968;P29317	.;EPHA2_HUMAN	N	184	ENSP00000351209:D184N	ENSP00000351209:D184N	D	-	1	0	EPHA2	16347733	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	6.070000	0.71220	2.393000	0.81446	0.561000	0.74099	GAT	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16475146	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16475146	C	T	16475146	3	4	164	1	0	0	0	0	1	0	0	0	5179	855	30	1	2440	1	EPHA2	1	16475146	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	215633	16475146	232775475	10	30798										
ARHGEF10L	55160	genome.wustl.edu	37	chr1	17975110	17975110	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagaagagcaaagccccattCtggtgcccgatcctggcctg	11	13	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:17975110C>G	ENST00000361221.3	+	22	2493	c.2334C>G	c.(2332-2334)ttC>ttG	p.F778L	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.F739L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.F773L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.F481L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.F739L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.F551L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	778						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGCCCCATTCTGGTGCCCGA	0.622																																																	0													80	73	75					1																	17975110		2203	4300	6503	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2334C>G	1.37:g.17975110C>G	ENSP00000355060:p.Phe778Leu		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.F778L	ENST00000361221.3	37	c.2334	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	C	9.972	1.225742	0.22542	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.59364	0.52;0.55;0.35;0.55;0.27;2.55	4.95	4.02	0.46733	.	0.235946	0.42548	D	0.000681	T	0.43255	0.1239	L	0.42245	1.32	0.45554	D	0.998505	B;B;B;B;B;B;B	0.26081	0.006;0.01;0.141;0.003;0.01;0.017;0.049	B;B;B;B;B;B;B	0.26517	0.005;0.023;0.07;0.002;0.018;0.07;0.032	T	0.20174	-1.0283	10	0.11182	T	0.66	-20.5594	8.3718	0.32419	0.0:0.8216:0.0:0.1784	.	551;773;481;539;734;739;778	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	L	778;739;773;739;551;551;481	ENSP00000355060:F778L;ENSP00000399401:F739L;ENSP00000394621:F773L;ENSP00000364564:F739L;ENSP00000364557:F551L;ENSP00000167825:F481L	ENSP00000167825:F481L	F	+	3	2	ARHGEF10L	17847697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.099000	0.31013	2.443000	0.82685	0.591000	0.81541	TTC	ARHGEF10L	-	NULL		0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	C	NM_018125		17975110	1	no_errors	ENST00000361221	ensembl	human	known	70_37	missense	SNP	1.000	G	G	17975110	C	G	17975110	3	3	164	1	0	0	0	0	1	0	0	0	895	912	32	1	2416	1	ARHGEF10L	1	17975110	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1499964	17975110	231275511	11	30799										
AKR7A2	8574	genome.wustl.edu	37	chr1	19633836	19633836	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggttgtaggcatagaacctCagtccaaagtgcctgaggca	13	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:19633836C>T	ENST00000235835.3	-	4	681	c.660G>A	c.(658-660)ctG>ctA	p.L220L	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	220					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CATAGAACCTCAGTCCAAAGT	0.597																																																	0													97	91	93					1																	19633836		2203	4297	6500	SO:0001819	synonymous_variant	8574			AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"Aldo-keto reductases"	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.660G>A	1.37:g.19633836C>T			O75749|Q5TG63	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.L220	ENST00000235835.3	37	c.660	CCDS194.1	1																																																																																			AKR7A2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.597	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR7A2	HGNC	protein_coding	OTTHUMT00000007165.2	C	NM_003689		19633836	-1	no_errors	ENST00000235835	ensembl	human	known	70_37	silent	SNP	0.998	T	T	19633836	C	T	19633836	2	4	164	1	0	0	0	0	0	0	0	1	475	813	29	1		1	AKR7A2	1	19633836	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1658726	19633836	229616785	12	30800										
HTR6	3362	genome.wustl.edu	37	chr1	20005617	20005617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcgcacctctcacagcggccCccggcccggccttagcctac	10	21	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:20005617C>T	ENST00000289753.1	+	3	1546	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	360					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CACAGCGGCCCCCGGCCCGGC	0.721																																					Esophageal Squamous(168;1879 2619 6848 21062)												0													16	19	18					1																	20005617		2197	4289	6486	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1079C>T	1.37:g.20005617C>T	ENSP00000289753:p.Pro360Leu		Q13640|Q5TGZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn	p.P360L	ENST00000289753.1	37	c.1079	CCDS197.1	1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683454	0.47991	.	.	ENSG00000158748	ENST00000289753	T	0.54071	0.59	5.39	5.39	0.77823	.	1.081540	0.07325	N	0.878191	T	0.46132	0.1377	L	0.27053	0.805	0.43326	D	0.995354	B	0.27853	0.191	B	0.26770	0.073	T	0.11867	-1.0570	9	.	.	.	.	18.0883	0.89464	0.0:1.0:0.0:0.0	.	360	P50406	5HT6R_HUMAN	L	360	ENSP00000289753:P360L	.	P	+	2	0	HTR6	19878204	0.018000	0.18449	0.716000	0.30569	0.088000	0.18126	2.611000	0.46334	2.698000	0.92095	0.561000	0.74099	CCC	HTR6	-	NULL		0.721	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR6	HGNC	protein_coding	OTTHUMT00000007704.1	C	NM_000871		20005617	1	no_errors	ENST00000289753	ensembl	human	known	70_37	missense	SNP	0.968	T	T	20005617	C	T	20005617	3	4	164	1	0	0	0	0	1	0	0	0	7471	623	22	4	1089	4	HTR6	1	20005617	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	371781	20005617	229245004	13	30801										
DDOST	1650	genome.wustl.edu	37	chr1	20987829	20987829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agggcccaagcccgggccgcGgtgctgggctccatcttcct	14	16	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:20987829G>A	ENST00000375048.3	-	1	171	c.66C>T	c.(64-66)acC>acT	p.T22T	DDOST_ENST00000415136.2_Silent_p.T22T|DDOST_ENST00000602624.2_Silent_p.T5T|DDOST_ENST00000477229.1_5'UTR|KIF17_ENST00000490034.1_5'Flank	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	22					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCGGGCCGCGGTGCTGGGCT	0.662											OREG0013196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16	21	19					1																	20987829		2198	4293	6491	SO:0001819	synonymous_variant	1650			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"oligosaccharyltransferase subunit 48"	602202	"dolichyl-diphosphooligosaccharide-protein glycosyltransferase", "dolichyl-diphosphooligosaccharide--protein glycosyltransferase"			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.66C>T	1.37:g.20987829G>A		745	B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Silent	SNP	pfam_OligosaccharylTrfase_su_Wbp1	p.T22	ENST00000375048.3	37	c.66	CCDS212.1	1																																																																																			DDOST	-	NULL		0.662	DDOST-001	KNOWN	basic|CCDS	protein_coding	DDOST	HGNC	protein_coding	OTTHUMT00000007961.2	G	NM_005216		20987829	-1	no_errors	ENST00000375048	ensembl	human	known	70_37	silent	SNP	0.000	A	A	20987829	G	A	20987829	2	1	164	1	0	0	0	0	0	0	0	1	4340	1103	39	2		2	DDOST	1	20987829	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	982212	20987829	228262792	14	30802										
USP48	84196	genome.wustl.edu	37	chr1	22055156	22055156	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cttacgcatctcagccatttCaatacaccactcctcaaatt	2	15	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:22055156C>G	ENST00000308271.9	-	11	2005	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	USP48_ENST00000400301.1_Missense_Mutation_p.E453Q|USP48_ENST00000529637.1_Missense_Mutation_p.E452Q|USP48_ENST00000421625.2_Missense_Mutation_p.E453Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	453					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCAGCCATTTCAATACACCAC	0.398																																																	0													175	157	163					1																	22055156		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1357G>C	1.37:g.22055156C>G	ENSP00000309262:p.Glu453Gln		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.E453Q	ENST00000308271.9	37	c.1357	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814365	0.90790	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.05855	3.4;3.41;3.38;3.55	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	M	0.62723	1.935	0.80722	D	1	D;B;P;D;D;D	0.89917	1.0;0.404;0.824;0.999;0.999;0.997	D;B;B;D;D;P	0.73708	0.981;0.205;0.372;0.961;0.929;0.889	T	0.00022	-1.2338	10	0.66056	D	0.02	.	19.132	0.93412	0.0:1.0:0.0:0.0	.	452;453;453;453;453;453	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	Q	453;453;452;39;75;453	ENSP00000383157:E453Q;ENSP00000309262:E453Q;ENSP00000431949:E452Q;ENSP00000406256:E453Q	ENSP00000309262:E453Q	E	-	1	0	USP48	21927743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GAA	USP48	-	NULL		0.398	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	C	NM_032236		22055156	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22055156	C	G	22055156	3	3	164	1	0	0	0	0	1	0	0	0	17110	835	29	1	1826	1	USP48	1	22055156	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1067327	22055156	227195465	15	30803										
ZNF593	51042	genome.wustl.edu	37	chr1	26496564	26496564	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cggcggccggacttggatgaGattcaccgcgagctgcggcc	16	13	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:26496564G>C	ENST00000374266.5	+	1	203	c.90G>C	c.(88-90)gaG>gaC	p.E30D	RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000270812.5_Missense_Mutation_p.E30D|RP11-96L14.7_ENST00000448923.1_RNA	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593	30					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTGGATGAGATTCACCGCG	0.701											OREG0013262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													7	9	9					1																	26496564		2121	4174	6295	SO:0001583	missense	51042			D45213	CCDS275.2	1p35.3	2012-10-05			ENSG00000142684	ENSG00000142684			30943	protein-coding gene	gene with protein product						9115366	Standard	NM_015871		Approved	ZT86	uc001bll.4	O00488	OTTHUMG00000007538	ENST00000374266.5:c.90G>C	1.37:g.26496564G>C	ENSP00000363384:p.Glu30Asp	787	B2R4S0|Q5T2H7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,pfscan_Znf_C2H2	p.E30D	ENST00000374266.5	37	c.90	CCDS275.2	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689479	0.88735	.	.	ENSG00000142684	ENST00000374266;ENST00000270812	T;T	0.47177	0.89;0.85	5.63	2.74	0.32292	.	0.050457	0.85682	D	0.000000	T	0.53594	0.1806	M	0.76328	2.33	0.23260	N	0.99803	D	0.61080	0.989	P	0.49752	0.621	T	0.51276	-0.8726	10	0.72032	D	0.01	-6.4354	10.0859	0.42417	0.2115:0.0:0.7885:0.0	.	30	O00488	ZN593_HUMAN	D	30	ENSP00000363384:E30D;ENSP00000270812:E30D	ENSP00000270812:E30D	E	+	3	2	ZNF593	26369151	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.337000	0.43947	0.751000	0.32900	-0.122000	0.15005	GAG	ZNF593	-	NULL		0.701	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF593	HGNC	protein_coding	OTTHUMT00000019842.2	G	NM_015871		26496564	1	no_errors	ENST00000374266	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26496564	G	C	26496564	3	2	164	1	0	0	0	0	1	0	0	0	18053	933	33	1	92	1	ZNF593	1	26496564	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4441408	26496564	222754057	16	30804										
ARID1A	8289	genome.wustl.edu	37	chr1	27089730	27089730	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcatgaaccggaaaacccaaGaaactgctgtcgccatgcat	9	12	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:27089730G>C	ENST00000324856.7	+	8	3057	c.2686G>C	c.(2686-2688)Gaa>Caa	p.E896Q	ARID1A_ENST00000374152.2_Missense_Mutation_p.E513Q|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Missense_Mutation_p.E896Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	896					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAAAACCCAAGAAACTGCTGT	0.537			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													48	45	46					1																	27089730		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2686G>C	1.37:g.27089730G>C	ENSP00000320485:p.Glu896Gln		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E896Q	ENST00000324856.7	37	c.2686	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457618	0.63401	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03124	4.13;4.05;4.04	5.65	5.65	0.86999	.	0.153130	0.64402	D	0.000019	T	0.07143	0.0181	L	0.54323	1.7	0.80722	D	1	P;P;P	0.45827	0.791;0.867;0.791	B;B;B	0.41510	0.196;0.359;0.196	T	0.34775	-0.9815	10	0.32370	T	0.25	-9.3683	19.9142	0.97043	0.0:0.0:1.0:0.0	.	896;896;550	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	Q	896;896;513	ENSP00000320485:E896Q;ENSP00000387636:E896Q;ENSP00000363267:E513Q	ENSP00000320485:E896Q	E	+	1	0	ARID1A	26962317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.170000	0.94795	2.941000	0.99782	0.655000	0.94253	GAA	ARID1A	-	NULL		0.537	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27089730	1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27089730	G	C	27089730	3	2	164	1	0	0	0	0	1	0	0	0	913	943	33	1	2716	1	ARID1A	1	27089730	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	593166	27089730	222160891	17	30805										
GMEB1	10691	genome.wustl.edu	37	chr1	29040885	29040885	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gactgtccacacactgccttCtggccctcagctcttccgct	7	18	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:29040885C>T	ENST00000294409.2	+	10	1412	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	GMEB1_ENST00000361872.4_Missense_Mutation_p.S431F|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000373816.1_Missense_Mutation_p.S431F	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	441					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACACTGCCTTCTGGCCCTCAG	0.577																																																	0													113	88	96					1																	29040885		2203	4300	6503	SO:0001583	missense	10691			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1322C>T	1.37:g.29040885C>T	ENSP00000294409:p.Ser441Phe		B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.S441F	ENST00000294409.2	37	c.1322	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091723	0.76756	.	.	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.60424	0.19;0.19;0.19	5.75	5.75	0.90469	.	0.071837	0.64402	D	0.000019	T	0.65698	0.2716	L	0.50333	1.59	0.34245	D	0.678133	D;D	0.61080	0.989;0.989	P;P	0.53912	0.737;0.737	T	0.75838	-0.3176	10	0.87932	D	0	-4.1599	16.8601	0.86016	0.0:1.0:0.0:0.0	.	441;431	Q9Y692;B1AT47	GMEB1_HUMAN;.	F	431;431;441	ENSP00000362922:S431F;ENSP00000355186:S431F;ENSP00000294409:S441F	ENSP00000294409:S441F	S	+	2	0	GMEB1	28913472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.182000	0.71995	2.716000	0.92895	0.655000	0.94253	TCT	GMEB1	-	NULL		0.577	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	C	NM_006582		29040885	1	no_errors	ENST00000294409	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29040885	C	T	29040885	3	4	164	1	0	0	0	0	1	0	0	0	6506	913	32	1	1356	1	GMEB1	1	29040885	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1951155	29040885	220209736	18	30806										
CCDC28B	79140	genome.wustl.edu	37	chr1	32669565	32669565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgcagcactccttcctgaccGaggtgactgatgtctatgag	11	11	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:32669565G>A	ENST00000373602.5	+	3	597	c.250G>A	c.(250-252)Gag>Aag	p.E84K	RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000483009.1_3'UTR|IQCC_ENST00000291358.6_5'Flank|CCDC28B_ENST00000421922.2_Missense_Mutation_p.E84K|IQCC_ENST00000537469.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	84					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTTCCTGACCGAGGTGACTGA	0.627																																																	0													56	53	54					1																	32669565		2203	4300	6503	SO:0001583	missense	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.250G>A	1.37:g.32669565G>A	ENSP00000362704:p.Glu84Lys		A8K789|Q8TBV8	Missense_Mutation	SNP	NULL	p.E84K	ENST00000373602.5	37	c.250	CCDS354.2	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459955	0.84317	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.50548	0.79;0.74	5.33	5.33	0.75918	.	0.143294	0.64402	D	0.000007	T	0.38214	0.1032	L	0.29908	0.895	0.58432	D	0.999999	B;D	0.63046	0.029;0.992	B;B	0.38880	0.004;0.284	T	0.45145	-0.9281	10	0.72032	D	0.01	0.1043	18.9901	0.92788	0.0:0.0:1.0:0.0	.	84;84	Q9BUN5;E9PM81	CC28B_HUMAN;.	K	84	ENSP00000362704:E84K;ENSP00000413017:E84K	ENSP00000362704:E84K	E	+	1	0	CCDC28B	32442152	1.000000	0.71417	0.957000	0.39632	0.929000	0.56500	9.566000	0.98157	2.662000	0.90505	0.561000	0.74099	GAG	CCDC28B	-	NULL		0.627	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28B	HGNC	protein_coding	OTTHUMT00000015723.4	G	NM_024296		32669565	1	no_errors	ENST00000373602	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32669565	G	A	32669565	3	1	164	1	0	0	0	0	1	0	0	0	2808	1059	37	1	256	1	CCDC28B	1	32669565	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3628680	32669565	216581056	19	30807										
AK2	204	genome.wustl.edu	37	chr1	33490087	33490087	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cttcagcttttttcctagctCtgagccagaagccaccatgg	8	13	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:33490087C>T	ENST00000487289.1	-	2	190	c.175G>A	c.(175-177)Gag>Aag	p.E59K	AK2_ENST00000354858.6_Missense_Mutation_p.E59K|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Intron|AK2_ENST00000480134.1_Missense_Mutation_p.E59K|AK2_ENST00000467905.1_Missense_Mutation_p.E59K|AK2_ENST00000373449.2_Missense_Mutation_p.E59K					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTTCCTAGCTCTGAGCCAGAA	0.483																																																	0													91	83	85					1																	33490087		2203	4298	6501	SO:0001583	missense	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.175G>A	1.37:g.33490087C>T	ENSP00000446849:p.Glu59Lys			Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.E59K	ENST00000487289.1	37	c.175		1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062064	0.76187	.	.	ENSG00000004455	ENST00000373449;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.26	5.26	0.73747	.	0.089222	0.85682	D	0.000000	T	0.75525	0.3861	L	0.52364	1.645	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.15052	0.007;0.012;0.007	T	0.70011	-0.4989	10	0.48119	T	0.1	-23.9467	19.7728	0.96373	0.0:1.0:0.0:0.0	.	59;59;59	P54819-5;P54819;P54819-2	.;KAD2_HUMAN;.	K	59	ENSP00000362548:E59K;ENSP00000447082:E59K;ENSP00000450109:E59K;ENSP00000346921:E59K;ENSP00000446849:E59K	ENSP00000346921:E59K	E	-	1	0	AK2	33262674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.201000	0.77847	2.840000	0.97914	0.655000	0.94253	GAG	AK2	-	pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub		0.483	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	AK2	HGNC	protein_coding	OTTHUMT00000011889.4	C	NM_001625		33490087	-1	no_errors	ENST00000354858	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33490087	C	T	33490087	3	4	164	1	0	0	0	0	1	0	0	0	440	922	32	1	573	1	AK2	1	33490087	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	820522	33490087	215760534	20	30808										
AK2	204	genome.wustl.edu	37	chr1	33490112	33490112	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccagaagccaccatggccctCagcatgtccccagtagctaa	8	16	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:33490112C>G	ENST00000487289.1	-	2	165	c.150G>C	c.(148-150)ctG>ctC	p.L50L	AK2_ENST00000354858.6_Silent_p.L50L|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Intron|AK2_ENST00000480134.1_Silent_p.L50L|AK2_ENST00000467905.1_Silent_p.L50L|AK2_ENST00000373449.2_Silent_p.L50L					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCATGGCCCTCAGCATGTCCC	0.468																																																	0													77	71	73					1																	33490112		2203	4296	6499	SO:0001819	synonymous_variant	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.150G>C	1.37:g.33490112C>G				Silent	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.L50	ENST00000487289.1	37	c.150		1																																																																																			AK2	-	pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub		0.468	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	AK2	HGNC	protein_coding	OTTHUMT00000011889.4	C	NM_001625		33490112	-1	no_errors	ENST00000354858	ensembl	human	known	70_37	silent	SNP	1.000	G	G	33490112	C	G	33490112	2	3	164	1	0	0	0	0	0	0	0	1	440	813	29	1		1	AK2	1	33490112	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	25	33490112	215760509	21	30809										
NCDN	23154	genome.wustl.edu	37	chr1	36028072	36028072	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctggctggccgaggagacctCatccttgcgtaaggaggtgt	15	10	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:36028072C>T	ENST00000373243.2	+	4	1606	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L	NCDN_ENST00000373253.3_Missense_Mutation_p.S391L|NCDN_ENST00000356090.4_Missense_Mutation_p.S408L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	408					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGGAGACCTCATCCTTGCGT	0.622																																																	0													156	133	141					1																	36028072		2203	4300	6503	SO:0001583	missense	23154			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1223C>T	1.37:g.36028072C>T	ENSP00000362340:p.Ser408Leu		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.S408L	ENST00000373243.2	37	c.1223	CCDS392.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.535795|4.535795	0.85812|0.85812	.|.	.|.	ENSG00000020129|ENSG00000020129	ENST00000423723|ENST00000373253;ENST00000356090;ENST00000373243	.|T;T;T	.|0.69561	.|-0.41;-0.41;-0.41	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	.|0.215569	.|0.40728	.|N	.|0.001021	T|T	0.71074|0.71074	0.3297|0.3297	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999995|0.999995	.|P	.|0.52170	.|0.951	.|P	.|0.55112	.|0.769	T|T	0.74362|0.74362	-0.3690|-0.3690	5|10	.|0.72032	.|D	.|0.01	-0.4759|-0.4759	15.1754|15.1754	0.72907|0.72907	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|408	.|Q9UBB6	.|NCDN_HUMAN	Y|L	2|391;408;408	.|ENSP00000362350:S391L;ENSP00000348394:S408L;ENSP00000362340:S408L	.|ENSP00000348394:S408L	H|S	+|+	1|2	0|0	NCDN|NCDN	35800659|35800659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.042000|5.042000	0.64202|0.64202	2.503000|2.503000	0.84419|0.84419	0.561000|0.561000	0.74099|0.74099	CAT|TCA	NCDN	-	NULL		0.622	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	C	NM_014284		36028072	1	no_errors	ENST00000356090	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36028072	C	T	36028072	3	4	164	1	0	0	0	0	1	0	0	0	10238	838	29	1	1237	1	NCDN	1	36028072	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2537960	36028072	213222549	22	30810										
CLSPN	63967	genome.wustl.edu	37	chr1	36226099	36226099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgatgatttattttgctgctCaggctcttccactttctcat	6	10	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:36226099C>T	ENST00000318121.3	-	8	1480	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	CLSPN_ENST00000251195.5_Missense_Mutation_p.E475K|CLSPN_ENST00000520551.1_Missense_Mutation_p.E475K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E475K	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	475					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTGCTGCTCAGGCTCTTCC	0.468																																																	0													200	190	193					1																	36226099		2203	4300	6503	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1423G>A	1.37:g.36226099C>T	ENSP00000312995:p.Glu475Lys		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	NULL	p.E475K	ENST00000318121.3	37	c.1423	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.905789	0.00512	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.22945	1.93;1.93;1.97;1.94	5.32	-0.176	0.13311	.	1.152280	0.05984	N	0.644933	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.0;0.009	B;B	0.08055	0.001;0.003	T	0.32824	-0.9892	10	0.15066	T	0.55	2.9514	8.6327	0.33928	0.0:0.4615:0.0:0.5385	.	475;475	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	K	475	ENSP00000251195:E475K;ENSP00000312995:E475K;ENSP00000362317:E475K;ENSP00000428848:E475K	ENSP00000251195:E475K	E	-	1	0	CLSPN	35998686	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.360000	0.07622	-0.066000	0.12998	-0.469000	0.05056	GAG	CLSPN	-	NULL		0.468	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	C	NM_022111		36226099	-1	no_errors	ENST00000318121	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36226099	C	T	36226099	3	4	164	1	0	0	0	0	1	0	0	0	3565	835	29	1	2668	1	CLSPN	1	36226099	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	198027	36226099	213024522	23	30811										
SF3A3	10946	genome.wustl.edu	37	chr1	38444671	38444671	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attccttacccgccacatttCaagcctaaagctaagagagc	6	13	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:38444671C>G	ENST00000373019.4	-	10	1771	c.816G>C	c.(814-816)ttG>ttC	p.L272F	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.L219F	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	272					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGCCACATTTCAAGCCTAAAG	0.348																																																	0													58	65	63					1																	38444671		2203	4300	6503	SO:0001583	missense	10946			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.816G>C	1.37:g.38444671C>G	ENSP00000362110:p.Leu272Phe		D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin	p.L272F	ENST00000373019.4	37	c.816	CCDS428.1	1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876023	0.72180	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.38	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	M	0.92169	3.28	0.80722	D	1	P;D	0.56968	0.911;0.978	P;P	0.55871	0.786;0.783	T	0.73254	-0.4041	9	0.18276	T	0.48	-7.0692	6.5412	0.22380	0.1455:0.7049:0.0:0.1496	.	219;272	E7EUT8;Q12874	.;SF3A3_HUMAN	F	272;219	.	ENSP00000362110:L272F	L	-	3	2	SF3A3	38217258	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.527000	0.22987	0.658000	0.30925	0.591000	0.81541	TTG	SF3A3	-	NULL		0.348	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A3	HGNC	protein_coding	OTTHUMT00000012976.1	C	NM_006802		38444671	-1	no_errors	ENST00000373019	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38444671	C	G	38444671	3	3	164	1	0	0	0	0	1	0	0	0	14178	825	29	1	721	1	SF3A3	1	38444671	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2218572	38444671	210805950	24	30812										
MACF1	23499	genome.wustl.edu	37	chr1	39893651	39893651	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggctctggaagaagacataGaaaaccatgcaacagatgtg	11	7	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:39893651G>A	ENST00000372915.3	+	61	16578				MACF1_ENST00000361689.2_Missense_Mutation_p.E3437K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.E5499K|MACF1_ENST00000317713.7_Missense_Mutation_p.E3437K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3437K|MACF1_ENST00000567887.1_Missense_Mutation_p.E5536K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3939K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGACATAGAAAACCATGC	0.398																																																	0													57	55	55					1																	39893651		2203	4300	6503	SO:0001627	intron_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16491+365G>A	1.37:g.39893651G>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E3437K	ENST00000372915.3	37	c.10309		1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743803	0.69418	.	.	ENSG00000127603	ENST00000545844;ENST00000361689;ENST00000317713;ENST00000289893;ENST00000482035	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.94	5.94	0.96194	.	0.000000	0.56097	D	0.000030	T	0.50956	0.1646	L	0.59436	1.845	0.80722	D	1	P;P	0.48911	0.917;0.605	P;P	0.48598	0.583;0.503	T	0.39251	-0.9623	10	0.23891	T	0.37	.	13.5417	0.61679	0.0709:0.0:0.9291:0.0	.	3437;3381	F8W8Q1;Q9UPN3-3	.;.	K	3437;3437;3437;3939;253	ENSP00000439537:E3437K;ENSP00000354573:E3437K;ENSP00000313438:E3437K;ENSP00000289893:E3939K;ENSP00000433104:E253K	ENSP00000289893:E3939K	E	+	1	0	MACF1	39666238	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.986000	0.40677	2.812000	0.96745	0.557000	0.71058	GAA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39893651	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39893651	G	A	39893651	1	1	164	0	1	0	0	0	0	0	0	0	9167	943	33	1		1	MACF1	1	39893651	Intron	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1448980	39893651	209356970	25	30813										
OXCT2	64064	genome.wustl.edu	37	chr1	40235401	40235401	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccacctgctgcatgggcctGaggttcggggacacagcaaa	14	12	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:40235401G>C	ENST00000327582.5	-	1	1619	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	509					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GCATGGGCCTGAGGTTCGGGG	0.642																																																	0													40	38	39					1																	40235401		2203	4300	6503	SO:0001819	synonymous_variant	64064			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1527C>G	1.37:g.40235401G>C			B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Silent	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.L509	ENST00000327582.5	37	c.1527	CCDS445.1	1																																																																																			OXCT2	-	pirsf_3-oxoacid_CoA-transferase		0.642	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	HGNC	protein_coding	OTTHUMT00000025656.1	G	NM_022120		40235401	-1	no_errors	ENST00000327582	ensembl	human	known	70_37	silent	SNP	0.001	C	C	40235401	G	C	40235401	2	2	164	1	0	0	0	0	0	0	0	1	11354	1277	45	1		1	OXCT2	1	40235401	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	341750	40235401	209015220	26	30814										
TIE1	7075	genome.wustl.edu	37	chr1	43782884	43782884	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtgaagggcgaggagaccatCctgcagttcagctcagggac	15	10	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:43782884C>A	ENST00000372476.3	+	15	2503	c.2424C>A	c.(2422-2424)atC>atA	p.I808I	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.I453I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	808					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGAGACCATCCTGCAGTTCA	0.602																																																	0													65	62	63					1																	43782884		2203	4300	6503	SO:0001819	synonymous_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2424C>A	1.37:g.43782884C>A			B5A949|B5A950	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I808	ENST00000372476.3	37	c.2424	CCDS482.1	1																																																																																			TIE1	-	NULL		0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43782884	1	no_errors	ENST00000372476	ensembl	human	known	70_37	silent	SNP	0.999	A	A	43782884	C	A	43782884	2	1	164	1	0	0	0	0	0	0	0	1	15923	845	30	3		3	TIE1	1	43782884	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3547483	43782884	205467737	27	30815			1	125		3	3	361	C		3.933229e-05
TIE1	7075	genome.wustl.edu	37	chr1	43783067	43783067	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgaagatgaacgcagccatCaaaatgctgaaaggtccact	9	10	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:43783067C>T	ENST00000372476.3	+	15	2686	c.2607C>T	c.(2605-2607)atC>atT	p.I869I	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.I514I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	869	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGCAGCCATCAAAATGCTGA	0.592																																																	0													63	62	62					1																	43783067		2203	4300	6503	SO:0001819	synonymous_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2607C>T	1.37:g.43783067C>T			B5A949|B5A950	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I869	ENST00000372476.3	37	c.2607	CCDS482.1	1																																																																																			TIE1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.592	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43783067	1	no_errors	ENST00000372476	ensembl	human	known	70_37	silent	SNP	1.000	T	T	43783067	C	T	43783067	2	4	164	1	0	0	0	0	0	0	0	1	15923	816	29	1		1	TIE1	1	43783067	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	183	43783067	205467554	28	30816			1	125		3	3	361	C		3.933229e-05
TIE1	7075	genome.wustl.edu	37	chr1	43783244	43783244	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctttacacagagtatgcctCtgaaaatgaccatcgtgact	7	10	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:43783244C>G	ENST00000372476.3	+	16	2709	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.S522C	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	877	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGTATGCCTCTGAAAATGAC	0.493																																																	0													155	170	165					1																	43783244		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2630C>G	1.37:g.43783244C>G	ENSP00000361554:p.Ser877Cys		B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S877C	ENST00000372476.3	37	c.2630	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162717	0.78226	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.83673	-1.75;-1.75	5.11	5.11	0.69529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39834	N	0.001250	D	0.91676	0.7369	M	0.83483	2.645	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71414	0.973;0.946;0.973	D	0.92920	0.6354	10	0.87932	D	0	.	18.5685	0.91126	0.0:1.0:0.0:0.0	.	832;522;877	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	C	877;280;160;522	ENSP00000361554:S877C;ENSP00000411728:S522C	ENSP00000361553:S280C	S	+	2	0	TIE1	43555831	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.384000	0.81235	0.655000	0.94253	TCT	TIE1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.493	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43783244	1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43783244	C	G	43783244	3	3	164	1	0	0	0	0	1	0	0	0	15923	913	32	1	2692	1	TIE1	1	43783244	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	177	43783244	205467377	29	30817			1	125		3	3	361	C		3.933229e-05
ERI3	79033	genome.wustl.edu	37	chr1	44818566	44818566	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gaccggcagctggggatgctGaaggttctgtgagagctgga	18	7	1	2	rs201922019		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:44818566G>A	ENST00000372257.2	-	2	348	c.167C>T	c.(166-168)tCa>tTa	p.S56L	ERI3_ENST00000495828.1_Intron|ERI3_ENST00000537474.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	56							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGGGATGCTGAAGGTTCTGT	0.458																																																	0													134	144	140					1																	44818566		2203	4300	6503	SO:0001583	missense	79033			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"Enhanced RNAi three prime mRNA exonucleases"	17276	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)", "exoribonuclease 3"	609917	"prion protein interacting protein"	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.167C>T	1.37:g.44818566G>A	ENSP00000361331:p.Ser56Leu		B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S56L	ENST00000372257.2	37	c.167	CCDS30696.1	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599157	0.46318	.	.	ENSG00000117419	ENST00000372257;ENST00000457571	.	.	.	3.7	2.79	0.32731	.	0.372476	0.21184	N	0.078769	T	0.29126	0.0724	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12091	-1.0561	9	0.87932	D	0	.	6.7973	0.23732	0.1249:0.0:0.875:0.0	.	56;56	F6UGJ8;O43414	.;ERI3_HUMAN	L	56	.	ENSP00000361331:S56L	S	-	2	0	ERI3	44591153	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	3.817000	0.55668	1.136000	0.42199	0.655000	0.94253	TCA	ERI3	-	NULL		0.458	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI3	HGNC	protein_coding	OTTHUMT00000020243.1	G	NM_024066		44818566	-1	no_errors	ENST00000372257	ensembl	human	known	70_37	missense	SNP	0.997	A	A	44818566	G	A	44818566	3	1	164	1	0	0	0	0	1	0	0	0	5241	1294	45	1	878	1	ERI3	1	44818566	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1035322	44818566	204432055	30	30818										
IPP	3652	genome.wustl.edu	37	chr1	46211870	46211870	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tacaacatcttttgaggactCtttcattcctccagtgaaca	5	11	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:46211870C>T	ENST00000396478.3	-	2	316	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTTGAGGACTCTTTCATTCCT	0.423																																																	0													89	86	87					1																	46211870		2203	4300	6503	SO:0001583	missense	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.214G>A	1.37:g.46211870C>T	ENSP00000379739:p.Glu72Lys		A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E72K	ENST00000396478.3	37	c.214	CCDS30702.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.508370	0.96386	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.75154	-0.91;-0.91	5.57	5.57	0.84162	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	D	0.91051	0.4878	10	0.87932	D	0	.	19.5508	0.95319	0.0:1.0:0.0:0.0	.	72;72	Q9Y573;A2A6V3	IPP_HUMAN;.	K	72	ENSP00000353024:E72K;ENSP00000379739:E72K	ENSP00000353024:E72K	E	-	1	0	IPP	45984457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.268000	0.78473	2.617000	0.88574	0.655000	0.94253	GAG	IPP	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.423	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3	C	NM_005897		46211870	-1	no_errors	ENST00000396478	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46211870	C	T	46211870	3	4	164	1	0	0	0	0	1	0	0	0	7820	922	32	1	1674	1	IPP	1	46211870	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1393304	46211870	203038751	31	30819										
ELAVL4	1996	genome.wustl.edu	37	chr1	50659540	50659540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggaactggagcaacttttctCgcaatacggccgtatcatca	9	11	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:50659540C>T	ENST00000371823.4	+	4	682	c.458C>T	c.(457-459)tCg>tTg	p.S153L	ELAVL4_ENST00000448907.2_Missense_Mutation_p.S156L|ELAVL4_ENST00000371821.1_Missense_Mutation_p.S158L|ELAVL4_ENST00000357083.4_Missense_Mutation_p.S170L|ELAVL4_ENST00000371819.1_Missense_Mutation_p.S158L|ELAVL4_ENST00000371827.1_Missense_Mutation_p.S153L|ELAVL4_ENST00000371824.1_Missense_Mutation_p.S153L	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	153	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAACTTTTCTCGCAATACGGC	0.463																																																	0													190	166	174					1																	50659540		2203	4300	6503	SO:0001583	missense	1996			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.458C>T	1.37:g.50659540C>T	ENSP00000360888:p.Ser153Leu		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.S158L	ENST00000371823.4	37	c.473	CCDS553.1	1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901780	0.72754	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.73753	2.245	0.80722	D	1	P;P;P;P;P;P;P	0.52061	0.871;0.95;0.938;0.751;0.707;0.844;0.871	B;B;B;B;B;B;B	0.42188	0.235;0.379;0.261;0.235;0.151;0.151;0.235	T	0.17107	-1.0380	10	0.72032	D	0.01	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	158;158;153;153;170;153;156	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	L	156;153;170;153;153;158;158	ENSP00000399939:S156L;ENSP00000360892:S153L;ENSP00000349594:S170L;ENSP00000360889:S153L;ENSP00000360888:S153L;ENSP00000360886:S158L;ENSP00000360884:S158L	ENSP00000349594:S170L	S	+	2	0	ELAVL4	50432127	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.906000	0.99361	0.655000	0.94253	TCG	ELAVL4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF		0.463	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	C	NM_021952		50659540	1	no_errors	ENST00000371821	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50659540	C	T	50659540	3	4	164	1	0	0	0	0	1	0	0	0	5064	893	31	1	571	1	ELAVL4	1	50659540	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4447670	50659540	198591081	32	30820										
KTI12	112970	genome.wustl.edu	37	chr1	52499064	52499064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gacgttccggccagggttctCgttcgcgcccgccacctgag	13	16	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:52499064C>T	ENST00000371614.1	-	1	424	c.370G>A	c.(370-372)Gag>Aag	p.E124K	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	124							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CCAGGGTTCTCGTTCGCGCCC	0.721																																																	0													32	38	36					1																	52499064		2202	4295	6497	SO:0001583	missense	112970				CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.370G>A	1.37:g.52499064C>T	ENSP00000360676:p.Glu124Lys			Missense_Mutation	SNP	pfam_Chromatin_KTI12	p.E124K	ENST00000371614.1	37	c.370	CCDS562.1	1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208763	0.39003	.	.	ENSG00000198841	ENST00000371614	T	0.51071	0.72	3.83	0.912	0.19349	.	.	.	.	.	T	0.30759	0.0775	L	0.36672	1.1	0.09310	N	1	B	0.18610	0.029	B	0.15052	0.012	T	0.22800	-1.0206	9	0.16896	T	0.51	.	4.7749	0.13175	0.1707:0.639:0.0:0.1903	.	124	Q96EK9	KTI12_HUMAN	K	124	ENSP00000360676:E124K	ENSP00000360676:E124K	E	-	1	0	KTI12	52271652	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.383000	0.20651	0.216000	0.20781	-0.841000	0.03054	GAG	KTI12	-	pfam_Chromatin_KTI12		0.721	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KTI12	HGNC	protein_coding	OTTHUMT00000023821.1	C	NM_138417		52499064	-1	no_errors	ENST00000371614	ensembl	human	known	70_37	missense	SNP	0.001	T	T	52499064	C	T	52499064	3	4	164	1	0	0	0	0	1	0	0	0	8604	893	31	1	698	1	KTI12	1	52499064	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1839524	52499064	196751557	33	30821										
ZYG11B	79699	genome.wustl.edu	37	chr1	53222190	53222190	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atttcttgactactcaccttGagaagttctgttcagccaga	7	10	4	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:53222190G>C	ENST00000294353.6	+	2	236	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	RNU2-30P_ENST00000516209.1_RNA|ZYG11B_ENST00000545132.1_Missense_Mutation_p.E31Q|ZYG11B_ENST00000443756.2_Missense_Mutation_p.E31Q	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	31										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TACTCACCTTGAGAAGTTCTG	0.463																																																	0													130	125	127					1																	53222190		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.91G>C	1.37:g.53222190G>C	ENSP00000294353:p.Glu31Gln		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E31Q	ENST00000294353.6	37	c.91	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275187	0.80580	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T	0.46819	0.87;0.86	4.89	4.89	0.63831	.	0.053279	0.85682	D	0.000000	T	0.61173	0.2326	L	0.52364	1.645	0.42816	D	0.993971	P;D	0.71674	0.867;0.998	P;D	0.66351	0.553;0.943	T	0.55263	-0.8168	10	0.23891	T	0.37	.	18.253	0.90011	0.0:0.0:1.0:0.0	.	31;31	B4DK95;Q9C0D3	.;ZY11B_HUMAN	Q	31	ENSP00000441315:E31Q;ENSP00000294353:E31Q	ENSP00000294353:E31Q	E	+	1	0	ZYG11B	52994778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.709000	0.74665	2.549000	0.85964	0.650000	0.86243	GAG	ZYG11B	-	NULL		0.463	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	G	NM_024646		53222190	1	no_errors	ENST00000294353	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53222190	G	C	53222190	3	2	164	1	0	0	0	0	1	0	0	0	18283	1291	45	1	97	1	ZYG11B	1	53222190	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	723126	53222190	196028431	34	30822										
ZYG11B	79699	genome.wustl.edu	37	chr1	53279239	53279239	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgaagtacaagaattacattCtgaattaatgtggaaagatt	8	3	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:53279239C>T	ENST00000294353.6	+	11	1872	c.1727C>T	c.(1726-1728)tCt>tTt	p.S576F	ZYG11B_ENST00000545132.1_3'UTR|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S506F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	576										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GAATTACATTCTGAATTAATG	0.294																																																	0													49	47	47					1																	53279239		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1727C>T	1.37:g.53279239C>T	ENSP00000294353:p.Ser576Phe		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S576F	ENST00000294353.6	37	c.1727	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583622	0.65992	.	.	ENSG00000162378	ENST00000443756;ENST00000294353	T;T	0.50001	0.76;0.76	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.166845	0.53938	D	0.000058	T	0.61899	0.2384	L	0.49350	1.555	0.80722	D	1	D;P	0.61080	0.989;0.938	P;P	0.60789	0.879;0.672	T	0.62153	-0.6914	10	0.51188	T	0.08	.	18.8811	0.92356	0.0:1.0:0.0:0.0	.	506;576	B4DK95;Q9C0D3	.;ZY11B_HUMAN	F	506;576	ENSP00000400522:S506F;ENSP00000294353:S576F	ENSP00000294353:S576F	S	+	2	0	ZYG11B	53051827	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.527000	0.45615	2.447000	0.82792	0.655000	0.94253	TCT	ZYG11B	-	superfamily_ARM-type_fold		0.294	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	C	NM_024646		53279239	1	no_errors	ENST00000294353	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53279239	C	T	53279239	3	4	164	1	0	0	0	0	1	0	0	0	18283	913	32	1	1769	1	ZYG11B	1	53279239	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	57049	53279239	195971382	35	30823										
PPAP2B	8613	genome.wustl.edu	37	chr1	56989993	56989993	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcacctctgcatctgtagttCtgaatgtagccttcagagca	8	11	5	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:56989993C>G	ENST00000371250.3	-	3	1082	c.531G>C	c.(529-531)caG>caC	p.Q177H		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	177					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATCTGTAGTTCTGAATGTAGC	0.532																																																	0													138	135	136					1																	56989993		2203	4300	6503	SO:0001583	missense	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.531G>C	1.37:g.56989993C>G	ENSP00000360296:p.Gln177His		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.Q177H	ENST00000371250.3	37	c.531	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633454	0.67015	.	.	ENSG00000162407	ENST00000371250	T	0.32023	1.47	5.56	0.967	0.19674	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.301431	0.35838	N	0.002942	T	0.36826	0.0981	L	0.52759	1.655	0.40665	D	0.982162	P	0.45126	0.851	P	0.56343	0.796	T	0.13229	-1.0517	10	0.59425	D	0.04	.	4.7874	0.13232	0.0:0.4789:0.1471:0.374	.	177	O14495	LPP3_HUMAN	H	177	ENSP00000360296:Q177H	ENSP00000360296:Q177H	Q	-	3	2	PPAP2B	56762581	0.197000	0.23362	0.995000	0.50966	0.924000	0.55760	-0.335000	0.07873	-0.095000	0.12351	-0.140000	0.14226	CAG	PPAP2B	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.532	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	C	NM_003713		56989993	-1	no_errors	ENST00000371250	ensembl	human	known	70_37	missense	SNP	0.995	G	G	56989993	C	G	56989993	3	3	164	1	0	0	0	0	1	0	0	0	12315	912	32	1	420	1	PPAP2B	1	56989993	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3710754	56989993	192260628	36	30824										
ATG4C	84938	genome.wustl.edu	37	chr1	63329772	63329772	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caatgaagaagaccttttttCagaggatgaaaagaaacaat	8	5	1	6			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:63329772C>T	ENST00000317868.4	+	11	1526	c.1319C>T	c.(1318-1320)tCa>tTa	p.S440L	ATG4C_ENST00000371120.3_Missense_Mutation_p.S440L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	440					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						GACCTTTTTTCAGAGGATGAA	0.308																																																	0													61	64	63					1																	63329772		2201	4294	6495	SO:0001583	missense	84938			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1319C>T	1.37:g.63329772C>T	ENSP00000322159:p.Ser440Leu		A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	pfam_Peptidase_C54	p.S440L	ENST00000317868.4	37	c.1319	CCDS623.1	1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946762	0.34377	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025	T;T	0.63255	-0.03;-0.03	5.37	3.47	0.39725	.	0.275476	0.34200	N	0.004166	T	0.34600	0.0903	L	0.51422	1.61	0.33544	D	0.595227	B	0.06786	0.001	B	0.06405	0.002	T	0.12116	-1.0560	10	0.21014	T	0.42	-2.4406	12.3871	0.55338	0.0:0.8597:0.0:0.1403	.	440	Q96DT6	ATG4C_HUMAN	L	440	ENSP00000322159:S440L;ENSP00000360161:S440L	ENSP00000322159:S440L	S	+	2	0	ATG4C	63102360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.590000	0.36654	0.611000	0.30052	0.585000	0.79938	TCA	ATG4C	-	NULL		0.308	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4C	HGNC	protein_coding	OTTHUMT00000025332.2	C	NM_032852		63329772	1	no_errors	ENST00000317868	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63329772	C	T	63329772	3	4	164	1	0	0	0	0	1	0	0	0	1099	838	29	1	1357	1	ATG4C	1	63329772	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	6339779	63329772	185920849	37	30825										
CACHD1	57685	genome.wustl.edu	37	chr1	65142651	65142651	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctggcctgcaagatgctcttCaccagtgtgtcaacagcagg	11	12	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:65142651C>T	ENST00000371073.2	+	22	3049	c.3049C>T	c.(3049-3051)Cac>Tac	p.H1017Y	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.H966Y			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1017					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGATGCTCTTCACCAGTGTGT	0.488																																																	0													102	92	95					1																	65142651		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3049C>T	1.37:g.65142651C>T	ENSP00000360113:p.His1017Tyr		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.H1017Y	ENST00000371073.2	37	c.3049		1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235029	0.58886	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22134	1.97;1.97	5.78	5.78	0.91487	.	0.293369	0.43747	D	0.000526	T	0.04861	0.0131	N	0.08118	0	0.29867	N	0.827123	B	0.06786	0.001	B	0.09377	0.004	T	0.21245	-1.0251	10	0.39692	T	0.17	-12.5337	13.2416	0.59999	0.0:0.9279:0.0:0.0721	.	1017	Q5VU97	CAHD1_HUMAN	Y	1017;966	ENSP00000360113:H1017Y;ENSP00000290039:H966Y	ENSP00000290039:H966Y	H	+	1	0	CACHD1	64915239	1.000000	0.71417	0.990000	0.47175	0.973000	0.67179	5.748000	0.68697	2.730000	0.93505	0.655000	0.94253	CAC	CACHD1	-	NULL		0.488	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65142651	1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	0.996	T	T	65142651	C	T	65142651	3	4	164	1	0	0	0	0	1	0	0	0	2542	826	29	1	2982	1	CACHD1	1	65142651	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1812879	65142651	184107970	38	30826										
COL24A1	255631	genome.wustl.edu	37	chr1	86313364	86313364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgaccacagcacctctagttCctctggcacccttaggacca	7	16	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:86313364C>T	ENST00000370571.2	-	39	3812	c.3446G>A	c.(3445-3447)gGa>gAa	p.G1149E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1149E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1149	Collagen-like 11.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACCTCTAGTTCCTCTGGCACC	0.468																																																	0													139	134	136					1																	86313364		1923	4121	6044	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3446G>A	1.37:g.86313364C>T	ENSP00000359603:p.Gly1149Glu		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G1149E	ENST00000370571.2	37	c.3446	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840715	0.51057	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99619	-6.28;-6.28	5.53	5.53	0.82687	.	0.000000	0.39544	N	0.001335	D	0.99843	0.9928	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96747	0.9551	10	0.87932	D	0	.	18.2192	0.89896	0.0:1.0:0.0:0.0	.	1149;1149	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	E	1149	ENSP00000359603:G1149E;ENSP00000392531:G1149E	ENSP00000359603:G1149E	G	-	2	0	COL24A1	86085952	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.974000	0.70465	2.602000	0.87976	0.585000	0.79938	GGA	COL24A1	-	pfam_Collagen		0.468	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86313364	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86313364	C	T	86313364	3	4	164	1	0	0	0	0	1	0	0	0	3688	855	30	1	1786	1	COL24A1	1	86313364	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	21170713	86313364	162937257	39	30827										
DPYD	1806	genome.wustl.edu	37	chr1	97544576	97544576	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggtacgcctctctttggttCataaggtgttgtcctggaaa	12	8	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:97544576C>A	ENST00000370192.3	-	23	3134	c.3034G>T	c.(3034-3036)Gaa>Taa	p.E1012*		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	1012					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CTCTTTGGTTCATAAGGTGTT	0.453																																																	0													237	219	225					1																	97544576		2203	4300	6503	SO:0001587	stop_gained	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.3034G>T	1.37:g.97544576C>A	ENSP00000359211:p.Glu1012*		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Nonsense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.E1012*	ENST00000370192.3	37	c.3034	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.001705	0.98605	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.46	4.54	0.55810	.	0.256123	0.38663	N	0.001617	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-12.7604	16.8148	0.85730	0.0:0.8715:0.1285:0.0	.	.	.	.	X	1012	.	ENSP00000359211:E1012X	E	-	1	0	DPYD	97317164	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.177000	0.42509	1.425000	0.47237	0.561000	0.74099	GAA	DPYD	-	NULL		0.453	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	C	NM_000110		97544576	-1	no_errors	ENST00000370192	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	97544576	C	A	97544576	4	1	164	1	0	0	0	0	0	1	0	0	4755	835	29	3	47	3	DPYD	1	97544576	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	11231212	97544576	151706045	40	30828										
PRMT6	55170	genome.wustl.edu	37	chr1	107599582	107599582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcggaactgggcagcactgcGaggcaagacggtactggacg	16	10	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:107599582G>A	ENST00000370078.1	+	1	282	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	PRMT6_ENST00000361318.5_Missense_Mutation_p.R23Q			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	82	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GCAGCACTGCGAGGCAAGACG	0.677																																																	0													34	41	39					1																	107599582		2049	4181	6230	SO:0001583	missense	55170			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"Protein arginine methyltransferases"	18241	protein-coding gene	gene with protein product		608274	"HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.245G>A	1.37:g.107599582G>A	ENSP00000359095:p.Arg82Gln		A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_mo5U34_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.R82Q	ENST00000370078.1	37	c.245	CCDS41360.2	1	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898178	0.17686	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.22134	1.97;1.97	5.11	3.26	0.37387	.	0.240017	0.35870	N	0.002936	T	0.04815	0.0130	L	0.37630	1.12	0.29177	N	0.876735	P	0.38535	0.635	B	0.30855	0.121	T	0.25676	-1.0125	10	0.41790	T	0.15	-8.2462	6.9127	0.24344	0.2729:0.0:0.7271:0.0	.	82	Q96LA8	ANM6_HUMAN	Q	23;82	ENSP00000355145:R23Q;ENSP00000359095:R82Q	ENSP00000355145:R23Q	R	+	2	0	PRMT6	107401105	1.000000	0.71417	0.345000	0.25642	0.002000	0.02628	2.857000	0.48349	0.745000	0.32763	-0.277000	0.10078	CGA	PRMT6	-	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_tRNA_mo5U34_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2		0.677	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT6	HGNC	protein_coding	OTTHUMT00000030185.1	G	NM_018137		107599582	1	no_errors	ENST00000370078	ensembl	human	known	70_37	missense	SNP	0.993	A	A	107599582	G	A	107599582	3	1	164	1	0	0	0	0	1	0	0	0	12567	1058	37	1	247	1	PRMT6	1	107599582	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	10055006	107599582	141651039	41	30829										
WDR47	22911	genome.wustl.edu	37	chr1	109517212	109517212	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agagcctgttagcaagtagtGagctccaggggagaatcgaa	14	7	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:109517212G>A	ENST00000369962.3	-	14	2785	c.2563C>T	c.(2563-2565)Cac>Tac	p.H855Y	WDR47_ENST00000400794.3_Missense_Mutation_p.H863Y|WDR47_ENST00000369965.4_Missense_Mutation_p.H856Y|WDR47_ENST00000357672.3_Missense_Mutation_p.H827Y|WDR47_ENST00000361054.3_Missense_Mutation_p.H827Y			O94967	WDR47_HUMAN	WD repeat domain 47	855					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGCAAGTAGTGAGCTCCAGGG	0.403																																																	0													118	105	110					1																	109517212		2203	4300	6503	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2563C>T	1.37:g.109517212G>A	ENSP00000358979:p.His855Tyr		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H863Y	ENST00000369962.3	37	c.2587	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944982	0.34283	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	N	0.11427	0.14	0.80722	D	1	B;B;B;B	0.34329	0.022;0.136;0.449;0.022	B;B;B;B	0.41988	0.078;0.151;0.372;0.025	T	0.29882	-0.9997	10	0.06099	T	0.92	-1.4644	18.9158	0.92505	0.0:0.0:1.0:0.0	.	827;863;855;856	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	Y	863;855;827;856;827	ENSP00000383599:H863Y;ENSP00000358979:H855Y;ENSP00000354339:H827Y;ENSP00000358982:H856Y;ENSP00000350301:H827Y	ENSP00000350301:H827Y	H	-	1	0	WDR47	109318735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.450000	0.97607	2.444000	0.82710	0.655000	0.94253	CAC	WDR47	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	G	NM_014969		109517212	-1	no_errors	ENST00000400794	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109517212	G	A	109517212	3	1	164	1	0	0	0	0	1	0	0	0	17331	1290	45	1	204	1	WDR47	1	109517212	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1917630	109517212	139733409	42	30830										
GNAT2	2780	genome.wustl.edu	37	chr1	110149024	110149024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgctcactagggaggtactCagggtctgtaattcgttcta	11	8	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:110149024C>G	ENST00000351050.3	-	5	682	c.496G>C	c.(496-498)Gag>Cag	p.E166Q		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	166					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGGAGGTACTCAGGGTCTGTA	0.423																																																	0													138	127	131					1																	110149024		2203	4300	6503	SO:0001583	missense	2780			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.496G>C	1.37:g.110149024C>G	ENSP00000251337:p.Glu166Gln			Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.E166Q	ENST00000351050.3	37	c.496	CCDS803.1	1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257190	0.22965	.	.	ENSG00000134183	ENST00000351050	T	0.44881	0.91	5.19	-0.618	0.11576	G protein alpha subunit, helical insertion (2);	0.384560	0.30658	N	0.009155	T	0.13628	0.0330	N	0.25789	0.76	0.09310	N	0.999995	B	0.20164	0.042	B	0.28305	0.088	T	0.34428	-0.9829	10	0.72032	D	0.01	.	10.9764	0.47469	0.0:0.4772:0.0:0.5228	.	166	P19087	GNAT2_HUMAN	Q	166	ENSP00000251337:E166Q	ENSP00000251337:E166Q	E	-	1	0	GNAT2	109950547	0.004000	0.15560	0.577000	0.28562	0.216000	0.24613	0.306000	0.19279	-0.172000	0.10779	-0.140000	0.14226	GAG	GNAT2	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su		0.423	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	C	NM_005272		110149024	-1	no_errors	ENST00000351050	ensembl	human	known	70_37	missense	SNP	0.215	G	G	110149024	C	G	110149024	3	3	164	1	0	0	0	0	1	0	0	0	6531	835	29	1	584	1	GNAT2	1	110149024	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	631812	110149024	139101597	43	30831										
KCNA2	3737	genome.wustl.edu	37	chr1	111147002	111147002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggcagaggacgctcttcctCcttgatgtagccttcatctt	9	12	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:111147002C>T	ENST00000485317.1	-	3	1076	c.403G>A	c.(403-405)Gag>Aag	p.E135K	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.E135K|KCNA2_ENST00000369770.3_Missense_Mutation_p.E135K|KCNA2_ENST00000440270.1_Missense_Mutation_p.E135K			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	135					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CGCTCTTCCTCCTTGATGTAG	0.453																																					Pancreas(18;568 735 10587 23710 36357)												0													55	55	55					1																	111147002		2203	4300	6503	SO:0001583	missense	3737			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.403G>A	1.37:g.111147002C>T	ENSP00000433109:p.Glu135Lys		Q86XG6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1	p.E135K	ENST00000485317.1	37	c.403	CCDS827.1	1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744707	0.69418	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96830	-1.45;-4.14;-4.14;-4.14	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	M	0.82823	2.61	0.80722	D	1	P;P	0.50617	0.935;0.937	P;P	0.50049	0.629;0.546	D	0.96988	0.9720	10	0.62326	D	0.03	.	20.3923	0.98948	0.0:1.0:0.0:0.0	.	135;135	Q86XG6;P16389	.;KCNA2_HUMAN	K	135	ENSP00000358785:E135K;ENSP00000433109:E135K;ENSP00000415257:E135K;ENSP00000314520:E135K	ENSP00000314520:E135K	E	-	1	0	KCNA2	110948525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.027000	0.70881	2.831000	0.97527	0.609000	0.83330	GAG	KCNA2	-	NULL		0.453	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA2	HGNC	protein_coding	OTTHUMT00000128001.2	C	NM_004974		111147002	-1	no_errors	ENST00000316361	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111147002	C	T	111147002	3	4	164	1	0	0	0	0	1	0	0	0	8023	864	30	1	1100	1	KCNA2	1	111147002	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	997978	111147002	138103619	44	30832										
NHLH2	4808	genome.wustl.edu	37	chr1	116380715	116380715	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agctcggcgaaggccaagttGaaggcttccacgcggatgcg	15	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:116380715G>T	ENST00000369506.1	-	1	5823	c.279C>A	c.(277-279)ttC>ttA	p.F93L	NHLH2_ENST00000320238.3_Missense_Mutation_p.F93L			Q02577	HEN2_HUMAN	nescient helix loop helix 2	93	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGCCAAGTTGAAGGCTTCCA	0.682																																																	0													21	25	23					1																	116380715		2202	4300	6502	SO:0001583	missense	4808				CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"Basic helix-loop-helix proteins"	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.279C>A	1.37:g.116380715G>T	ENSP00000358519:p.Phe93Leu		Q5T1P6	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.F93L	ENST00000369506.1	37	c.279	CCDS885.1	1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865160	0.71949	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D;D	0.97186	-4.28;-4.28;-4.28	4.48	3.57	0.40892	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	N	0.02412	-0.56	0.58432	D	0.999998	D	0.59357	0.985	D	0.72338	0.977	D	0.87526	0.2449	10	0.02654	T	1	-19.922	11.9065	0.52715	0.0864:0.0:0.9136:0.0	.	93	Q02577	HEN2_HUMAN	L	93	ENSP00000322087:F93L;ENSP00000358519:F93L;ENSP00000405062:F93L	ENSP00000322087:F93L	F	-	3	2	NHLH2	116182238	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.789000	0.55454	0.886000	0.36113	0.555000	0.69702	TTC	NHLH2	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.682	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NHLH2	HGNC	protein_coding	OTTHUMT00000033090.1	G	NM_005599		116380715	-1	no_errors	ENST00000320238	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116380715	G	T	116380715	3	4	164	1	0	0	0	0	1	0	0	0	10428	1281	45	3	132	3	NHLH2	1	116380715	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5233713	116380715	132869906	45	30833										
HIST2H2AB	317772	genome.wustl.edu	37	chr1	149859407	149859407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggaactggagaccagcgcgGgacgagcgcgacttggcctt	17	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:149859407G>A	ENST00000331128.3	-	1	59	c.60C>T	c.(58-60)tcC>tcT	p.S20S	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	20						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GACCAGCGCGGGACGAGCGCG	0.637																																																	0													55	63	60					1																	149859407		2202	4297	6499	SO:0001819	synonymous_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.60C>T	1.37:g.149859407G>A				Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.S20	ENST00000331128.3	37	c.60	CCDS938.1	1																																																																																			HIST2H2AB	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.637	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AB	HGNC	protein_coding	OTTHUMT00000033440.1	G	NM_175065		149859407	-1	no_errors	ENST00000331128	ensembl	human	known	70_37	silent	SNP	0.975	A	A	149859407	G	A	149859407	2	1	164	1	0	0	0	0	0	0	0	1	7197	1219	43	4		4	HIST2H2AB	1	149859407	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	33478692	149859407	99391214	46	30834										
ARNT	405	genome.wustl.edu	37	chr1	150789274	150789274	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cggggctcacctgaaattctCtgccggccggggggtaggag	17	11	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:150789274C>A	ENST00000358595.5	-	18	1992	c.1792G>T	c.(1792-1794)Gag>Tag	p.E598*	ARNT_ENST00000515192.1_Nonsense_Mutation_p.E584*|ARNT_ENST00000354396.2_Nonsense_Mutation_p.E598*|ARNT_ENST00000505755.1_Nonsense_Mutation_p.E583*	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	598					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGAAATTCTCTGCCGGCCGG	0.527			T	ETV6	AML																																			Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													72	74	73					1																	150789274		2203	4300	6503	SO:0001587	stop_gained	405			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1792G>T	1.37:g.150789274C>A	ENSP00000351407:p.Glu598*		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Nonsense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.E598*	ENST00000358595.5	37	c.1792	CCDS970.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.529018	0.98339	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	.	.	.	5.82	5.82	0.92795	.	1.087730	0.06908	N	0.807109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	.	.	.	X	598;598;584;550;583	.	ENSP00000346372:E598X	E	-	1	0	ARNT	149055898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.258000	0.65479	2.767000	0.95098	0.655000	0.94253	GAG	ARNT	-	NULL		0.527	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARNT	HGNC	protein_coding	OTTHUMT00000084741.2	C			150789274	-1	no_errors	ENST00000358595	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	150789274	C	A	150789274	4	1	164	1	0	0	0	0	0	1	0	0	966	922	32	3	597	3	ARNT	1	150789274	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	929867	150789274	98461347	47	30835										
ARNT	405	genome.wustl.edu	37	chr1	150807072	150807072	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cattctcatggaagactgctGaccttcctttttcactgttc	6	12	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:150807072G>C	ENST00000358595.5	-	8	945	c.745C>G	c.(745-747)Cag>Gag	p.Q249E	ARNT_ENST00000515192.1_Missense_Mutation_p.Q240E|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.Q249E|ARNT_ENST00000505755.1_Missense_Mutation_p.Q234E	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	249					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAGACTGCTGACCTTCCTTT	0.463			T	ETV6	AML																																			Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													198	170	180					1																	150807072		2203	4300	6503	SO:0001583	missense	405			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.745C>G	1.37:g.150807072G>C	ENSP00000351407:p.Gln249Glu		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.Q249E	ENST00000358595.5	37	c.745	CCDS970.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837165	0.91117	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.05139	3.59;3.59;3.61;3.49	5.61	5.61	0.85477	PAS fold (1);	0.370808	0.31909	N	0.006874	T	0.08758	0.0217	L	0.33668	1.02	0.58432	D	0.999991	D;P;D;P;P;P;D	0.54772	0.968;0.904;0.968;0.73;0.758;0.936;0.968	P;P;P;P;P;P;P	0.60286	0.872;0.578;0.872;0.57;0.57;0.669;0.872	T	0.42632	-0.9440	10	0.26408	T	0.33	.	19.6376	0.95740	0.0:0.0:1.0:0.0	.	233;249;234;249;240;234;249	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	E	249;249;249;240;233;234	ENSP00000351407:Q249E;ENSP00000346372:Q249E;ENSP00000423851:Q240E;ENSP00000427571:Q234E	ENSP00000346372:Q249E	Q	-	1	0	ARNT	149073696	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.149000	0.71795	2.643000	0.89663	0.467000	0.42956	CAG	ARNT	-	pfam_PAS_fold		0.463	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARNT	HGNC	protein_coding	OTTHUMT00000084741.2	G			150807072	-1	no_errors	ENST00000358595	ensembl	human	known	70_37	missense	SNP	1.000	C	C	150807072	G	C	150807072	3	2	164	1	0	0	0	0	1	0	0	0	966	1299	45	1	1684	1	ARNT	1	150807072	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	17798	150807072	98443549	48	30836										
CGN	57530	genome.wustl.edu	37	chr1	151508255	151508255	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gaggcttcctgtccctctcaGaacaaggacctgaagacccg	10	14	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:151508255G>A	ENST00000271636.7	+	18	3211		c.e18-1			NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin						transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCCCTCTCAGAACAAGGACC	0.567																																																	0													64	68	67					1																	151508255		2203	4300	6503	SO:0001630	splice_region_variant	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3079-1G>A	1.37:g.151508255G>A			A6H8L3|A7MD22|Q5T386|Q9NR25	Splice_Site	SNP	-	e17-1	ENST00000271636.7	37	c.3079-1	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818774	0.32145	.	.	ENSG00000143375	ENST00000271636	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CGN	149774879	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	5.304000	0.65744	2.756000	0.94617	0.563000	0.77884	.	CGN	-	-		0.567	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	G	NM_020770	Intron	151508255	1	no_errors	ENST00000271636	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	151508255	G	A	151508255	5	1	164	1	0	0	0	0	0	0	1	0	3308	956	33	1	3144	1	CGN	1	151508255	Splice_Site	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	701183	151508255	97742366	49	30837										
CGN	7286	genome.wustl.edu	37	chr1	151509793	151509793	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccattgcatcactgcttacgGagagcaacctacagaccagc	8	14	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:151509793G>A	ENST00000368849.3	+	0	0				CGN_ENST00000271636.7_Missense_Mutation_p.E1195K|TUFT1_ENST00000353024.3_5'Flank|TUFT1_ENST00000368848.2_5'Flank|TUFT1_ENST00000392712.3_5'Flank|TUFT1_ENST00000538902.1_5'Flank	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1						bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGCTTACGGAGAGCAACCT	0.557																																																	0													125	94	105					1																	151509793		2203	4300	6503	SO:0001631	upstream_gene_variant	57530			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536		1.37:g.151509793G>A	Exception_encountered		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	pfam_Myosin_tail	p.E1195K	ENST00000368849.3	37	c.3583	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925557	0.92319	.	.	ENSG00000143375	ENST00000271636	T	0.71579	-0.58	4.64	4.64	0.57946	.	0.048728	0.85682	D	0.000000	T	0.69682	0.3138	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.75059	-0.3451	10	0.87932	D	0	-29.1298	16.5878	0.84732	0.0:0.0:1.0:0.0	.	1189	Q9P2M7	CING_HUMAN	K	1195	ENSP00000271636:E1195K	ENSP00000271636:E1195K	E	+	1	0	CGN	149776417	1.000000	0.71417	0.990000	0.47175	0.903000	0.53119	8.704000	0.91351	2.566000	0.86566	0.557000	0.71058	GAG	CGN	-	NULL		0.557	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000035022.1	G	NM_020127		151509793	1	no_errors	ENST00000271636	ensembl	human	known	70_37	missense	SNP	0.999	A	A	151509793	G	A	151509793	1	1	164	0	1	0	0	0	0	0	0	0	3308	1175	41	1		1	CGN	1	151509793	5'Flank	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1538	151509793	97740828	50	30838										
FLG	2312	genome.wustl.edu	37	chr1	152281157	152281157	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggactctttgtggctctgctGatggggcccagcttttccct	12	12	2	1	rs141923137	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:152281157G>A	ENST00000368799.1	-	3	6240	c.6205C>T	c.(6205-6207)Cag>Tag	p.Q2069*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2069	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			TGGCTCTGCTGATGGGGCCCA	0.557									Ichthyosis																																								0													355	289	311					1																	152281157		2203	4300	6503	SO:0001587	stop_gained	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6205C>T	1.37:g.152281157G>A	ENSP00000357789:p.Gln2069*		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q2069*	ENST00000368799.1	37	c.6205	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	42	9.420636	0.99166	.	.	ENSG00000143631	ENST00000368799	.	.	.	1.82	-0.174	0.13319	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	4.0865	0.09950	0.4031:0.0:0.5969:0.0	.	.	.	.	X	2069	.	ENSP00000357789:Q2069X	Q	-	1	0	FLG	150547781	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.013000	0.01450	-0.031000	0.13781	0.485000	0.47835	CAG	FLG	-	NULL		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152281157	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	152281157	G	A	152281157	4	1	164	1	0	0	0	0	0	1	0	0	5940	1299	45	1	5984	1	FLG	1	152281157	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	771364	152281157	96969464	51	30839										
FLG2	388698	genome.wustl.edu	37	chr1	152327647	152327647	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgagcttgacctgtgttgtCcaaagccagatgtctgtccc	10	12	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:152327647C>G	ENST00000388718.5	-	3	2687	c.2615G>C	c.(2614-2616)gGa>gCa	p.G872A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	872	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGTGTTGTCCAAAGCCAGA	0.507																																																	0													363	313	330					1																	152327647		2200	4264	6464	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2615G>C	1.37:g.152327647C>G	ENSP00000373370:p.Gly872Ala		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.G872A	ENST00000388718.5	37	c.2615	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752252	0.15778	.	.	ENSG00000143520	ENST00000388718	T	0.06294	3.32	3.3	3.3	0.37823	.	.	.	.	.	T	0.05868	0.0153	M	0.72894	2.215	0.09310	N	1	D	0.67145	0.996	P	0.51701	0.677	T	0.29150	-1.0021	9	0.40728	T	0.16	1.529	6.3272	0.21251	0.0:0.8609:0.0:0.1391	.	872	Q5D862	FILA2_HUMAN	A	872	ENSP00000373370:G872A	ENSP00000373370:G872A	G	-	2	0	FLG2	150594271	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	0.269000	0.18589	1.676000	0.50930	0.650000	0.86243	GGA	FLG2	-	NULL		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152327647	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.024	G	G	152327647	C	G	152327647	3	3	164	1	0	0	0	0	1	0	0	0	5941	855	30	1	4564	1	FLG2	1	152327647	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	46490	152327647	96922974	52	30840										
DCST1	149095	genome.wustl.edu	37	chr1	155007000	155007000	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agtttcctgtcactgctctcCtgctgggggcaggcgctggg	15	12	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155007000C>G	ENST00000295542.1	+	3	247	c.151C>G	c.(151-153)Ctg>Gtg	p.L51V	DCST1_ENST00000392480.1_Missense_Mutation_p.L51V|DCST1_ENST00000423025.2_Missense_Mutation_p.L51V|DCST2_ENST00000368424.3_5'Flank|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000368419.2_Missense_Mutation_p.L51V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	51						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CACTGCTCTCCTGCTGGGGGC	0.652																																																	0													64	76	72					1																	155007000		2203	4300	6503	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.151C>G	1.37:g.155007000C>G	ENSP00000295542:p.Leu51Val		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.L51V	ENST00000295542.1	37	c.151	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990242	0.74589	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.32023	1.58;1.52;1.47;1.52	5.18	4.26	0.50523	.	1.402390	0.04878	N	0.447136	T	0.39963	0.1098	M	0.67953	2.075	0.36108	D	0.844594	D;D;D	0.76494	0.983;0.999;0.983	P;D;P	0.65874	0.556;0.939;0.556	T	0.21999	-1.0229	10	0.33940	T	0.23	-13.6262	8.6614	0.34095	0.0:0.8979:0.0:0.1021	.	51;76;51	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	V	51	ENSP00000295542:L51V;ENSP00000376271:L51V;ENSP00000387369:L51V;ENSP00000357404:L51V	ENSP00000295542:L51V	L	+	1	2	DCST1	153273624	0.990000	0.36364	1.000000	0.80357	0.984000	0.73092	0.037000	0.13840	2.421000	0.82119	0.655000	0.94253	CTG	DCST1	-	NULL		0.652	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	C	NM_152494		155007000	1	no_errors	ENST00000295542	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155007000	C	G	155007000	3	3	164	1	0	0	0	0	1	0	0	0	4307	680	24	4	157	4	DCST1	1	155007000	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2679353	155007000	94243621	53	30841										
MSTO1	55154	genome.wustl.edu	37	chr1	155581080	155581080	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tccaagactttctgagtgcaGaggtgagggcctctgtcctg	13	10	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155581080G>C	ENST00000245564.2	+	4	388	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Missense_Mutation_p.E122Q|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	122					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TCTGAGTGCAGAGGTGAGGGC	0.478																																																	0													30	27	28					1																	155581080		2202	4295	6497	SO:0001583	missense	55154			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"misato homolog 1 (Drosophila)"			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.364G>C	1.37:g.155581080G>C	ENSP00000245564:p.Glu122Gln		Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	pfam_Misato_II_myosin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	p.E122Q	ENST00000245564.2	37	c.364	CCDS1114.1	1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026890	0.35797	.	.	ENSG00000125459	ENST00000452804;ENST00000245564	T	0.52057	0.68	3.07	3.07	0.35406	Tubulin/FtsZ, GTPase domain (1);	0.276318	0.34460	U	0.003947	T	0.13372	0.0324	N	0.19112	0.55	0.80722	D	1	B;B;B	0.27229	0.172;0.11;0.13	B;B;B	0.24974	0.041;0.038;0.057	T	0.05225	-1.0898	10	0.20519	T	0.43	.	7.6187	0.28173	0.1271:0.0:0.8729:0.0	.	122;122;122	Q9BUK6;Q9BUK6-2;Q9BUK6-3	MSTO1_HUMAN;.;.	Q	122	ENSP00000245564:E122Q	ENSP00000245564:E122Q	E	+	1	0	MSTO1	153847704	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.063000	0.41423	1.694000	0.51137	0.313000	0.20887	GAG	MSTO1	-	superfamily_Tubulin_FtsZ_GTPase		0.478	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	G	NM_018116		155581080	1	no_errors	ENST00000245564	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155581080	G	C	155581080	3	2	164	1	0	0	0	0	1	0	0	0	9917	943	33	1	378	1	MSTO1	1	155581080	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	574080	155581080	93669541	54	30842										
GON4L	54856	genome.wustl.edu	37	chr1	155735213	155735213	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtccaattccacagcatgttCcactttgatgtcatcacaaa	5	12	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155735213C>G	ENST00000368331.1	-	21	4099	c.4051G>C	c.(4051-4053)Gaa>Caa	p.E1351Q	GON4L_ENST00000271883.5_Missense_Mutation_p.E1351Q|GON4L_ENST00000437809.1_Missense_Mutation_p.E1351Q|GON4L_ENST00000361040.5_Missense_Mutation_p.E1351Q|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1351					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACAGCATGTTCCACTTTGATG	0.483																																																	0													130	125	127					1																	155735213		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4051G>C	1.37:g.155735213C>G	ENSP00000357315:p.Glu1351Gln		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1351Q	ENST00000368331.1	37	c.4051		1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917180	0.73098	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.24723	2.61;2.61;2.61;1.84	5.23	5.23	0.72850	.	0.277048	0.30752	N	0.008951	T	0.32585	0.0834	L	0.54323	1.7	0.26018	N	0.981906	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	D;D;D;D	0.87578	0.957;0.995;0.996;0.998	T	0.07065	-1.0792	10	0.52906	T	0.07	.	11.9828	0.53129	0.0:0.9204:0.0:0.0796	.	1351;547;1351;1351	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	Q	1351	ENSP00000396117:E1351Q;ENSP00000357315:E1351Q;ENSP00000271883:E1351Q;ENSP00000354322:E1351Q	ENSP00000271883:E1351Q	E	-	1	0	GON4L	154001837	0.943000	0.32029	0.086000	0.20670	0.003000	0.03518	3.076000	0.50081	2.719000	0.93026	0.655000	0.94253	GAA	GON4L	-	NULL		0.483	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155735213	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.879	G	G	155735213	C	G	155735213	3	3	164	1	0	0	0	0	1	0	0	0	6591	864	30	1	2836	1	GON4L	1	155735213	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	154133	155735213	93515408	55	30843			2	126	111951969	3	3	61	N	C_A	1.082689e-06
GON4L	54856	genome.wustl.edu	37	chr1	155735229	155735229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgttccactttgatgtcatcAcaaatatcacgctcagggga	8	10	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155735229A>G	ENST00000368331.1	-	21	4083	c.4035T>C	c.(4033-4035)tgT>tgC	p.C1345C	GON4L_ENST00000271883.5_Silent_p.C1345C|GON4L_ENST00000437809.1_Silent_p.C1345C|GON4L_ENST00000361040.5_Silent_p.C1345C|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1345					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGATGTCATCACAAATATCAC	0.473																																																	0													121	117	118					1																	155735229		2203	4300	6503	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4035T>C	1.37:g.155735229A>G			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.C1345	ENST00000368331.1	37	c.4035		1																																																																																			GON4L	-	NULL		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		A	NM_032292		155735229	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	silent	SNP	0.005	G	G	155735229	A	G	155735229	2	3	164	1	0	0	0	0	0	0	0	1	6591	157	6	5		5	GON4L	1	155735229	Silent	SNP	A	TCGA-JX-A3Q0-01A-11D-A21Q-09	16	155735229	93515392	56	30844			2	126	111951969	3	3	61	N	C_A	1.082689e-06
GON4L	54856	genome.wustl.edu	37	chr1	155735273	155735273	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	actgatttcctctctagcttCttcaggttccatcttgacaa	5	12	4	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155735273C>G	ENST00000368331.1	-	21	4039	c.3991G>C	c.(3991-3993)Gaa>Caa	p.E1331Q	GON4L_ENST00000271883.5_Missense_Mutation_p.E1331Q|GON4L_ENST00000437809.1_Missense_Mutation_p.E1331Q|GON4L_ENST00000361040.5_Missense_Mutation_p.E1331Q|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1331					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCTAGCTTCTTCAGGTTCC	0.522																																																	0													100	95	97					1																	155735273		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3991G>C	1.37:g.155735273C>G	ENSP00000357315:p.Glu1331Gln		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1331Q	ENST00000368331.1	37	c.3991		1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815463	0.32145	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.13538	2.85;2.85;2.85;2.58	5.03	5.03	0.67393	.	0.323372	0.29892	N	0.010937	T	0.04497	0.0123	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.23540	0.076;0.087;0.041;0.068	B;B;B;B	0.29267	0.054;0.085;0.046;0.1	T	0.28396	-1.0045	10	0.72032	D	0.01	.	14.6554	0.68828	0.0:0.8539:0.1461:0.0	.	1331;527;1331;1331	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	Q	1331	ENSP00000396117:E1331Q;ENSP00000357315:E1331Q;ENSP00000271883:E1331Q;ENSP00000354322:E1331Q	ENSP00000271883:E1331Q	E	-	1	0	GON4L	154001897	0.950000	0.32346	0.266000	0.24541	0.286000	0.27126	4.877000	0.63086	2.613000	0.88420	0.650000	0.86243	GAA	GON4L	-	NULL		0.522	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155735273	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.372	G	G	155735273	C	G	155735273	3	3	164	1	0	0	0	0	1	0	0	0	6591	922	32	1	2896	1	GON4L	1	155735273	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	44	155735273	93515348	57	30845			2	126	111951969	3	3	61	N	C_A	1.082689e-06
RIT1	6016	genome.wustl.edu	37	chr1	155870325	155870325	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagggcatggaaaacatcatCaatatagtagcggtatgcag	11	6	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155870325C>T	ENST00000368323.3	-	6	718	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RIT1_ENST00000539040.1_Missense_Mutation_p.D136N|RIT1_ENST00000368322.3_Missense_Mutation_p.D189N	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	172					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			AAAACATCATCAATATAGTAG	0.448																																																	0													207	202	204					1																	155870325		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.514G>A	1.37:g.155870325C>T	ENSP00000357306:p.Asp172Asn		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D172N	ENST00000368323.3	37	c.514	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964486	0.92791	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.76448	-1.02;-1.02;-1.02	5.8	5.8	0.92144	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	N	0.20530	0.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75769	-0.3201	10	0.33141	T	0.24	.	19.6495	0.95795	0.0:1.0:0.0:0.0	.	172	Q92963	RIT1_HUMAN	N	172;136;189	ENSP00000357306:D172N;ENSP00000441950:D136N;ENSP00000357305:D189N	ENSP00000357305:D189N	D	-	1	0	RIT1	154136949	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.557000	0.73937	2.746000	0.94184	0.591000	0.81541	GAT	RIT1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.448	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	C	NM_006912		155870325	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155870325	C	T	155870325	3	4	164	1	0	0	0	0	1	0	0	0	13416	826	29	1	149	1	RIT1	1	155870325	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	135052	155870325	93380296	58	30846										
KIAA0907	22889	genome.wustl.edu	37	chr1	155899505	155899505	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtctcaatgcctcctcacctCgtcttgagtctgtcctcgag	8	15	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155899505C>A	ENST00000368321.3	-	3	405	c.382G>T	c.(382-384)Gag>Tag	p.E128*	KIAA0907_ENST00000368319.3_Nonsense_Mutation_p.E128*|KIAA0907_ENST00000368320.3_Nonsense_Mutation_p.E128*|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	128							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTCCTCACCTCGTCTTGAGTC	0.453																																																	0													139	122	128					1																	155899505		2203	4300	6503	SO:0001587	stop_gained	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.382G>T	1.37:g.155899505C>A	ENSP00000357304:p.Glu128*		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Nonsense_Mutation	SNP	NULL	p.E128*	ENST00000368321.3	37	c.382	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406573	0.83230	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-15.3765	18.0796	0.89438	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000357302:E128X	E	-	1	0	KIAA0907	154166129	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.298000	0.78815	2.666000	0.90696	0.563000	0.77884	GAG	KIAA0907	-	NULL		0.453	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	C	NM_014949		155899505	-1	no_errors	ENST00000368321	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	155899505	C	A	155899505	4	1	164	1	0	0	0	0	0	1	0	0	8219	893	31	3	1510	3	KIAA0907	1	155899505	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	29180	155899505	93351116	59	30847										
KIAA0907	22889	genome.wustl.edu	37	chr1	155899522	155899522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctcgtcttgagtctgtcctCgagtcagcaagttcctacat	8	13	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155899522C>A	ENST00000368321.3	-	3	388	c.365G>T	c.(364-366)cGa>cTa	p.R122L	KIAA0907_ENST00000368319.3_Missense_Mutation_p.R122L|KIAA0907_ENST00000368320.3_Missense_Mutation_p.R122L|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	122							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AGTCTGTCCTCGAGTCAGCAA	0.478																																																	0													145	129	134					1																	155899522		2203	4300	6503	SO:0001583	missense	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.365G>T	1.37:g.155899522C>A	ENSP00000357304:p.Arg122Leu		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	NULL	p.R122L	ENST00000368321.3	37	c.365	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.210283	0.95069	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.47528	0.84;0.84;0.84	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.996;0.997;0.996;0.991	D;D;P;P;D;P	0.66196	0.909;0.942;0.908;0.834;0.937;0.885	T	0.65829	-0.6073	10	0.66056	D	0.02	-8.9897	18.7817	0.91934	0.0:1.0:0.0:0.0	.	122;122;122;122;122;122	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	L	122	ENSP00000357304:R122L;ENSP00000357303:R122L;ENSP00000357302:R122L	ENSP00000357302:R122L	R	-	2	0	KIAA0907	154166146	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.298000	0.78815	2.767000	0.95098	0.563000	0.77884	CGA	KIAA0907	-	NULL		0.478	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	C	NM_014949		155899522	-1	no_errors	ENST00000368321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	155899522	C	A	155899522	3	1	164	1	0	0	0	0	1	0	0	0	8219	884	31	3	1527	3	KIAA0907	1	155899522	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	17	155899522	93351099	60	30848										
ARHGEF11	9826	genome.wustl.edu	37	chr1	156916478	156916478	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgaagagctggaatcgactCtccttgcgttgcttggtctt	11	9	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:156916478C>T	ENST00000361409.2	-	27	3292	c.2550G>A	c.(2548-2550)gaG>gaA	p.E850E	ARHGEF11_ENST00000368194.3_Silent_p.E890E|ARHGEF11_ENST00000315174.8_Silent_p.E266E|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	850	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAATCGACTCTCCTTGCGTT	0.527																																																	0													188	196	193					1																	156916478		2203	4300	6503	SO:0001819	synonymous_variant	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2550G>A	1.37:g.156916478C>T			D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.E890	ENST00000361409.2	37	c.2670	CCDS1162.1	1																																																																																			ARHGEF11	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.527	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156916478	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	silent	SNP	1.000	T	T	156916478	C	T	156916478	2	4	164	1	0	0	0	0	0	0	0	1	896	912	32	1		1	ARHGEF11	1	156916478	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1016956	156916478	92334143	61	30849										
ARHGEF11	9826	genome.wustl.edu	37	chr1	156927597	156927597	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgcttacctcctgtcttcctCatacttggacctggaatgga	8	12	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:156927597C>G	ENST00000361409.2	-	17	2135	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.E505Q	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	465	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGTCTTCCTCATACTTGGAC	0.463																																																	0													251	197	215					1																	156927597		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1393G>C	1.37:g.156927597C>G	ENSP00000354644:p.Glu465Gln		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.E505Q	ENST00000361409.2	37	c.1513	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886736	0.51908	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.85013	-1.93;-1.93	4.93	4.93	0.64822	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.332879	0.25386	N	0.031053	D	0.85583	0.5730	M	0.78456	2.415	0.80722	D	1	P;P	0.49559	0.925;0.848	P;B	0.46718	0.525;0.39	D	0.88140	0.2844	10	0.72032	D	0.01	-23.2706	16.892	0.86090	0.0:1.0:0.0:0.0	.	465;505	O15085;O15085-2	ARHGB_HUMAN;.	Q	505;465	ENSP00000357177:E505Q;ENSP00000354644:E465Q	ENSP00000354644:E465Q	E	-	1	0	ARHGEF11	155194221	1.000000	0.71417	0.974000	0.42286	0.066000	0.16364	4.873000	0.63057	2.567000	0.86603	0.655000	0.94253	GAG	ARHGEF11	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam		0.463	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156927597	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	0.999	G	G	156927597	C	G	156927597	3	3	164	1	0	0	0	0	1	0	0	0	896	835	29	1	3271	1	ARHGEF11	1	156927597	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	11119	156927597	92323024	62	30850										
FCRL4	83417	genome.wustl.edu	37	chr1	157551335	157551335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acaaacctgacttcctccgaCgccagcagtgaaacagcagg	9	14	0	2	rs557777677		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:157551335C>T	ENST00000271532.1	-	7	1370	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	412					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTTCCTCCGACGCCAGCAGTG	0.602													C|||	1	0.000199681	8e-04	0	5008	,	,		19439	0		0	False		,,,				2504	0																0													73	63	66					1																	157551335		2203	4300	6503	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1235G>A	1.37:g.157551335C>T	ENSP00000271532:p.Arg412His		Q96PJ3|Q96RE0	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R412H	ENST00000271532.1	37	c.1235	CCDS1166.1	1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501567	0.26861	.	.	ENSG00000163518	ENST00000271532	T	0.21734	1.99	4.63	-7.77	0.01227	.	1.080580	0.07301	N	0.874166	T	0.01695	0.0054	N	0.04880	-0.145	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.42172	-0.9467	10	0.15499	T	0.54	.	4.1549	0.10256	0.4271:0.209:0.0:0.3639	.	412	Q96PJ5	FCRL4_HUMAN	H	412	ENSP00000271532:R412H	ENSP00000271532:R412H	R	-	2	0	FCRL4	155817959	0.000000	0.05858	0.000000	0.03702	0.571000	0.35966	-2.755000	0.00789	-0.960000	0.03613	0.467000	0.42956	CGT	FCRL4	-	NULL		0.602	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	C	NM_031282		157551335	-1	no_errors	ENST00000271532	ensembl	human	known	70_37	missense	SNP	0.000	T	T	157551335	C	T	157551335	3	4	164	1	0	0	0	0	1	0	0	0	5815	536	19	2	336	2	FCRL4	1	157551335	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	623738	157551335	91699286	63	30851										
OR10J5	127385	genome.wustl.edu	37	chr1	159505066	159505066	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagtggacaataaccacagtGaggtgggagacacaggtggc	15	8	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:159505066G>A	ENST00000334857.2	-	1	776	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TAACCACAGTGAGGTGGGAGA	0.483																																																	0													93	90	91					1																	159505066		2203	4300	6503	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.732C>T	1.37:g.159505066G>A			B9EH35|Q6IFH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L244	ENST00000334857.2	37	c.732	CCDS30910.1	1																																																																																			OR10J5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.483	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	G	NM_001004469		159505066	-1	no_errors	ENST00000334857	ensembl	human	known	70_37	silent	SNP	0.807	A	A	159505066	G	A	159505066	2	1	164	1	0	0	0	0	0	0	0	1	10936	1277	45	1		1	OR10J5	1	159505066	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1953731	159505066	89745555	64	30852										
OR10J5	127385	genome.wustl.edu	37	chr1	159505654	159505654	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agatgatggtcaatgcagatGatagtcacaatgatgatgtt	11	4	2	6			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:159505654G>A	ENST00000334857.2	-	1	188	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAATGCAGATGATAGTCACAA	0.428																																																	0													172	144	154					1																	159505654		2203	4300	6503	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.144C>T	1.37:g.159505654G>A			B9EH35|Q6IFH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I48	ENST00000334857.2	37	c.144	CCDS30910.1	1																																																																																			OR10J5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	G	NM_001004469		159505654	-1	no_errors	ENST00000334857	ensembl	human	known	70_37	silent	SNP	0.000	A	A	159505654	G	A	159505654	2	1	164	1	0	0	0	0	0	0	0	1	10936	1280	45	1		1	OR10J5	1	159505654	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	588	159505654	89744967	65	30853										
DDR2	4921	genome.wustl.edu	37	chr1	162749934	162749934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caaccagccatttgtcctgaCtctgtgtataagctgatgct	8	11	1	2	rs143080882		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:162749934C>T	ENST00000367922.3	+	19	2904	c.2466C>T	c.(2464-2466)gaC>gaT	p.D822D	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Silent_p.D822D	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TTTGTCCTGACTCTGTGTATA	0.453																																					NSCLC(161;314 2006 8283 19651 23192)												0													210	204	206					1																	162749934		2203	4300	6503	SO:0001819	synonymous_variant	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2466C>T	1.37:g.162749934C>T			Q7Z730	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D822	ENST00000367922.3	37	c.2466	CCDS1241.1	1																																																																																			DDR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.453	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	C	NM_006182		162749934	1	no_errors	ENST00000367921	ensembl	human	known	70_37	silent	SNP	1.000	T	T	162749934	C	T	162749934	2	4	164	1	0	0	0	0	0	0	0	1	4342	564	20	4		4	DDR2	1	162749934	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3244280	162749934	86500687	66	30854										
C1orf112	55732	genome.wustl.edu	37	chr1	169770059	169770059	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgtagaaatgtttttacctCatatgaaccacctgacattg	6	8	1	3	rs150100828		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:169770059C>T	ENST00000286031.6	+	3	713	c.13C>T	c.(13-15)Cat>Tat	p.H5Y	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000456684.1_Missense_Mutation_p.H63Y|C1orf112_ENST00000359326.4_Missense_Mutation_p.H5Y|C1orf112_ENST00000413811.2_Intron	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	5										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTTTTACCTCATATGAACCA	0.308																																																	0								C	TYR/HIS	0,4388		0,0,2194	37	39	38		13	5.2	1	1	dbSNP_134	38	3,8543	2.2+/-6.3	0,3,4270	yes	missense	C1orf112	NM_018186.2	83	0,3,6464	TT,TC,CC		0.0351,0.0,0.0232	probably-damaging	5/854	169770059	3,12931	2194	4273	6467	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.13C>T	1.37:g.169770059C>T	ENSP00000286031:p.His5Tyr		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.H5Y	ENST00000286031.6	37	c.13	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408489	0.83340	0.0	3.51E-4	ENSG00000000460	ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.66280	0.54;-0.2;0.54	5.15	5.15	0.70609	.	0.098018	0.64402	D	0.000001	T	0.74749	0.3757	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.71870	0.975;0.909	T	0.78513	-0.2175	10	0.87932	D	0	-7.2848	17.2224	0.86961	0.0:1.0:0.0:0.0	.	5;63	Q9NSG2;B4DRP7	CA112_HUMAN;.	Y	5;63;5	ENSP00000352276:H5Y;ENSP00000415583:H63Y;ENSP00000286031:H5Y	ENSP00000286031:H5Y	H	+	1	0	C1orf112	168036683	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.679000	0.74513	2.410000	0.81850	0.467000	0.42956	CAT	C1orf112	-	NULL		0.308	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	C	NM_018186		169770059	1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	1.000	T	T	169770059	C	T	169770059	3	4	164	1	0	0	0	0	1	0	0	0	1990	826	29	1	15	1	C1orf112	1	169770059	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	7020125	169770059	79480562	67	30855										
ZBTB37	84614	genome.wustl.edu	37	chr1	173839814	173839814	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcatcaagagagacctccaGagtctcacagggttacacca	9	12	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:173839814G>A	ENST00000367701.5	+	2	642	c.451G>A	c.(451-453)Gag>Aag	p.E151K	ZBTB37_ENST00000367702.1_Missense_Mutation_p.E151K|ZBTB37_ENST00000427304.1_Missense_Mutation_p.E151K|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367704.1_Missense_Mutation_p.E151K|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E151K			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GAGACCTCCAGAGTCTCACAG	0.468																																																	0													54	55	54					1																	173839814		2203	4300	6503	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.451G>A	1.37:g.173839814G>A	ENSP00000356674:p.Glu151Lys		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E151K	ENST00000367701.5	37	c.451	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574014	0.65765	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;T;T;T;T	0.75704	-0.95;2.61;-0.96;-0.96;2.61	5.7	5.7	0.88788	.	0.271361	0.42420	D	0.000720	T	0.45994	0.1370	N	0.24115	0.695	0.58432	D	0.99999	B;B	0.16166	0.016;0.016	B;B	0.15484	0.011;0.013	T	0.52881	-0.8516	10	0.07030	T	0.85	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	151;151	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	K	151;151;151;151;59;151	ENSP00000356677:E151K;ENSP00000415293:E151K;ENSP00000409408:E151K;ENSP00000356675:E151K;ENSP00000356674:E151K	ENSP00000356674:E151K	E	+	1	0	ZBTB37	172106437	0.995000	0.38212	0.996000	0.52242	0.997000	0.91878	5.079000	0.64431	2.687000	0.91594	0.563000	0.77884	GAG	ZBTB37	-	NULL		0.468	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	G	NM_032522		173839814	1	no_errors	ENST00000367701	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173839814	G	A	173839814	3	1	164	1	0	0	0	0	1	0	0	0	17568	943	33	1	453	1	ZBTB37	1	173839814	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4069755	173839814	75410807	68	30856										
PAPPA2	60676	genome.wustl.edu	37	chr1	176525551	176525551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagctgggctggacacgcaaGaaatccttggttgagaggga	16	7	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:176525551G>A	ENST00000367662.3	+	2	1257	c.93G>A	c.(91-93)aaG>aaA	p.K31K	PAPPA2_ENST00000367661.3_Silent_p.K31K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	31					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K31N(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGACACGCAAGAAATCCTTGG	0.537																																																	2	Substitution - Missense(2)	lung(2)											95	95	95					1																	176525551		2015	4201	6216	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.93G>A	1.37:g.176525551G>A			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.K31	ENST00000367662.3	37	c.93	CCDS41438.1	1																																																																																			PAPPA2	-	NULL		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176525551	1	no_errors	ENST00000367662	ensembl	human	known	70_37	silent	SNP	0.463	A	A	176525551	G	A	176525551	2	1	164	1	0	0	0	0	0	0	0	1	11457	933	33	1		1	PAPPA2	1	176525551	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2685737	176525551	72725070	69	30857										
FAM20B	9917	genome.wustl.edu	37	chr1	179033476	179033476	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agctactgtgatgctgtgaaGaaaacgtccccttatgactc	9	10	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:179033476G>A	ENST00000263733.4	+	6	1119	c.783G>A	c.(781-783)aaG>aaA	p.K261K		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	261						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						ATGCTGTGAAGAAAACGTCCC	0.498																																																	0													234	189	204					1																	179033476		2203	4300	6503	SO:0001819	synonymous_variant	9917			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.783G>A	1.37:g.179033476G>A			Q5W0C3|Q5W0C4	Silent	SNP	pfam_DUF1193	p.K261	ENST00000263733.4	37	c.783	CCDS1328.1	1																																																																																			FAM20B	-	pfam_DUF1193		0.498	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20B	HGNC	protein_coding	OTTHUMT00000084922.1	G	NM_014864		179033476	1	no_errors	ENST00000263733	ensembl	human	known	70_37	silent	SNP	1.000	A	A	179033476	G	A	179033476	2	1	164	1	0	0	0	0	0	0	0	1	5553	933	33	1		1	FAM20B	1	179033476	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2507925	179033476	70217145	70	30858										
LAMC2	3918	genome.wustl.edu	37	chr1	183206490	183206490	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttctttgggctcataggtgGaagaagcaaagaggatcaaa	12	5	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:183206490G>T	ENST00000264144.4	+	18	2670	c.2605G>T	c.(2605-2607)Gaa>Taa	p.E869*	LAMC2_ENST00000493293.1_Nonsense_Mutation_p.E869*	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	869	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTCATAGGTGGAAGAAGCAAA	0.463																																																	0													74	73	74					1																	183206490		2203	4300	6503	SO:0001587	stop_gained	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2605G>T	1.37:g.183206490G>T	ENSP00000264144:p.Glu869*		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.E869*	ENST00000264144.4	37	c.2605	CCDS1352.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.149701	0.98096	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	.	.	.	5.36	5.36	0.76844	.	0.141693	0.47852	D	0.000202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	16.1604	0.81700	0.0:0.0:1.0:0.0	.	.	.	.	X	869	.	ENSP00000264144:E869X	E	+	1	0	LAMC2	181473113	0.340000	0.24792	0.493000	0.27502	0.284000	0.27059	0.364000	0.20325	2.665000	0.90641	0.561000	0.74099	GAA	LAMC2	-	NULL		0.463	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	G	NM_005562		183206490	1	no_errors	ENST00000264144	ensembl	human	known	70_37	nonsense	SNP	0.617	T	T	183206490	G	T	183206490	4	4	164	1	0	0	0	0	0	1	0	0	8635	1175	41	3	2675	3	LAMC2	1	183206490	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4173014	183206490	66044131	71	30859										
LAMC2	3918	genome.wustl.edu	37	chr1	183206632	183206633	+	Missense_Mutation	DNP	GG	GG	AA													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cttacagaatggaaaaagtgGgagagaggtattcttttgtt							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:183206632_183206633GG>AA	ENST00000264144.4	+	18	2812_2813	c.2747_2748GG>AA	c.(2746-2748)gGG>gAA	p.G916E	LAMC2_ENST00000493293.1_Missense_Mutation_p.G916E	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	916	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGAAAAAGTGGGAGAGAGGTAT	0.386																																																	0																																										SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	Exception_encountered	1.37:g.183206632_183206633delinsAA	ENSP00000264144:p.Gly916Glu		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation|Silent	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.G916E|p.G916	ENST00000264144.4	37	c.2747|c.2748	CCDS1352.1	1																																																																																			LAMC2	-	NULL		0.386	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	G	NM_005562		183206632|183206633	1	no_errors	ENST00000264144	ensembl	human	known	70_37	missense|silent	SNP	0.036|0.332	A	AA	183206633	GG	AA	183206632	3	1	164	1	0	0	0	0	1	0	0	0	8635	1232	43	4	2817	4	LAMC2	1	183206632	Missense_Mutation	DNP	GG	TCGA-JX-A3Q0-01A-11D-A21Q-09	142	183206632	66043989	72	30860										
C1orf26	54823	genome.wustl.edu	37	chr1	185135765	185135765	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcttctataagatcagtttCatcagaaaagagaaaactgg	7	6	5	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:185135765C>T	ENST00000367500.4	+	3	311	c.146C>T	c.(145-147)tCa>tTa	p.S49L	SWT1_ENST00000367501.3_Missense_Mutation_p.S49L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	49										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGATCAGTTTCATCAGAAAAG	0.303																																																	0													54	59	58					1																	185135765		2203	4293	6496	SO:0001583	missense	54823			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.146C>T	1.37:g.185135765C>T	ENSP00000356470:p.Ser49Leu		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PINc_nuc-bd	p.S49L	ENST00000367500.4	37	c.146	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410561	0.25465	.	.	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.52526	0.66;0.66;0.66	4.26	3.35	0.38373	.	0.404996	0.18143	N	0.150359	T	0.42810	0.1219	L	0.59436	1.845	0.09310	N	0.999999	B	0.33694	0.421	B	0.34991	0.193	T	0.42682	-0.9437	10	0.72032	D	0.01	.	7.7867	0.29095	0.0:0.8861:0.0:0.1139	.	49	Q5T5J6	SWT1_HUMAN	L	49	ENSP00000356471:S49L;ENSP00000356470:S49L;ENSP00000401413:S49L	ENSP00000356470:S49L	S	+	2	0	SWT1	183402388	0.970000	0.33590	0.213000	0.23690	0.549000	0.35272	2.989000	0.49393	1.115000	0.41800	0.557000	0.71058	TCA	SWT1	-	NULL		0.303	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	C	NM_017673		185135765	1	no_errors	ENST00000367500	ensembl	human	known	70_37	missense	SNP	0.162	T	T	185135765	C	T	185135765	3	4	164	1	0	0	0	0	1	0	0	0	2040	838	29	1	152	1	C1orf26	1	185135765	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1929133	185135765	64114856	73	30861										
ASPM	259266	genome.wustl.edu	37	chr1	197094291	197094291	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgagtttctttgagaggtcCcagttctgtgtgagaagttc	12	7	2	3	rs199422152		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:197094291C>T	ENST00000367409.4	-	11	3223	c.2967G>A	c.(2965-2967)tgG>tgA	p.W989*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.W239*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.W989*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	989	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGAGAGGTCCCAGTTCTGTG	0.363																																																	0													101	99	100					1																	197094291		2203	4300	6503	SO:0001587	stop_gained	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2967G>A	1.37:g.197094291C>T	ENSP00000356379:p.Trp989*		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.W989*	ENST00000367409.4	37	c.2967	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.245195	0.99367	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	.	.	.	5.59	5.59	0.84812	.	0.166059	0.44097	D	0.000483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	.	.	.	X	989;989;239	.	ENSP00000294732:W989X	W	-	3	0	ASPM	195360914	1.000000	0.71417	0.975000	0.42487	0.672000	0.39443	7.304000	0.78882	2.797000	0.96272	0.563000	0.77884	TGG	ASPM	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197094291	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	197094291	C	T	197094291	4	4	164	1	0	0	0	0	0	1	0	0	1057	624	22	4	7538	4	ASPM	1	197094291	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	11958526	197094291	52156330	74	30862										
ZBTB41	360023	genome.wustl.edu	37	chr1	197128956	197128956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcctcagaagtactgagagGatcatcaggagattttattt	9	6	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:197128956G>A	ENST00000367405.4	-	10	2331	c.2263C>T	c.(2263-2265)Cct>Tct	p.P755S	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	755					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTACTGAGAGGATCATCAGGA	0.388																																																	0													189	182	184					1																	197128956		2203	4299	6502	SO:0001583	missense	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2263C>T	1.37:g.197128956G>A	ENSP00000356375:p.Pro755Ser		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P755S	ENST00000367405.4	37	c.2263	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432206	0.25813	.	.	ENSG00000177888	ENST00000367405	T	0.06142	3.34	5.97	-0.762	0.11034	.	0.605816	0.13452	N	0.386833	T	0.02848	0.0085	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41088	-0.9528	10	0.42905	T	0.14	.	1.6276	0.02726	0.359:0.2431:0.2846:0.1132	.	755	Q5SVQ8	ZBT41_HUMAN	S	755	ENSP00000356375:P755S	ENSP00000356375:P755S	P	-	1	0	ZBTB41	195395579	0.388000	0.25197	0.951000	0.38953	0.993000	0.82548	0.286000	0.18902	0.118000	0.18165	-0.137000	0.14449	CCT	ZBTB41	-	NULL		0.388	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	G	NM_194314		197128956	-1	no_errors	ENST00000367405	ensembl	human	known	70_37	missense	SNP	0.082	A	A	197128956	G	A	197128956	3	1	164	1	0	0	0	0	1	0	0	0	17573	1174	41	1	470	1	ZBTB41	1	197128956	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	34665	197128956	52121665	75	30863										
TMEM183A	92703	genome.wustl.edu	37	chr1	202985216	202985216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccatttgctgctcgaatctCcaagaatccagccattccag	7	14	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:202985216C>T	ENST00000367242.3	+	5	736	c.656C>T	c.(655-657)tCc>tTc	p.S219F	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	219						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			GCTCGAATCTCCAAGAATCCA	0.468																																																	0													109	110	110					1																	202985216		2203	4297	6500	SO:0001583	missense	92703			BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 37"	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.656C>T	1.37:g.202985216C>T	ENSP00000356211:p.Ser219Phe		A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.S219F	ENST00000367242.3	37	c.656	CCDS1432.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.301056	0.95601	.	.	ENSG00000163444	ENST00000367242	T	0.24538	1.85	5.4	5.4	0.78164	.	0.105510	0.64402	D	0.000002	T	0.48768	0.1518	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.986;0.999;0.986;0.986	P;D;P;P	0.67548	0.814;0.952;0.742;0.814	T	0.44967	-0.9293	10	0.72032	D	0.01	-15.8787	19.1413	0.93446	0.0:1.0:0.0:0.0	.	219;219;219;219	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	F	219	ENSP00000356211:S219F	ENSP00000356211:S219F	S	+	2	0	TMEM183A	201251839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.757000	0.68766	2.679000	0.91253	0.655000	0.94253	TCC	TMEM183A	-	NULL		0.468	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM183A	HGNC	protein_coding	OTTHUMT00000100129.1	C	NM_138391		202985216	1	no_errors	ENST00000367242	ensembl	human	known	70_37	missense	SNP	1.000	T	T	202985216	C	T	202985216	3	4	164	1	0	0	0	0	1	0	0	0	16132	855	30	1	674	1	TMEM183A	1	202985216	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5856260	202985216	46265405	76	30864										
C1orf116	79098	genome.wustl.edu	37	chr1	207195713	207195713	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggggtgttgctctcctggaGagtcagccctgactctggct	14	11	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:207195713G>A	ENST00000359470.5	-	4	1645	c.1396C>T	c.(1396-1398)Ctc>Ttc	p.L466F	C1orf116_ENST00000461135.2_Missense_Mutation_p.L220F	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	466						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CTCTCCTGGAGAGTCAGCCCT	0.542																																																	0													39	41	41					1																	207195713		2203	4300	6503	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1396C>T	1.37:g.207195713G>A	ENSP00000352447:p.Leu466Phe		C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.L466F	ENST00000359470.5	37	c.1396	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616331	0.66672	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.29917	2.52;1.55	5.7	4.79	0.61399	.	0.159402	0.43416	D	0.000562	T	0.34629	0.0904	M	0.63843	1.955	0.26533	N	0.97422	P	0.38078	0.617	B	0.38712	0.28	T	0.32587	-0.9901	10	0.66056	D	0.02	-21.006	13.7636	0.62981	0.0735:0.0:0.9265:0.0	.	466	Q9BW04	SARG_HUMAN	F	466;220	ENSP00000352447:L466F;ENSP00000436862:L220F	ENSP00000352447:L466F	L	-	1	0	C1orf116	205262336	0.997000	0.39634	0.497000	0.27552	0.770000	0.43624	2.970000	0.49240	1.416000	0.47057	0.655000	0.94253	CTC	C1orf116	-	NULL		0.542	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	G	NM_024115		207195713	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	missense	SNP	0.280	A	A	207195713	G	A	207195713	3	1	164	1	0	0	0	0	1	0	0	0	1994	942	33	1	413	1	C1orf116	1	207195713	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4210497	207195713	42054908	77	30865										
C1orf116	79098	genome.wustl.edu	37	chr1	207196772	207196772	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agggtgggatgagctggactCagttactgtccttggcgttc	15	8	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:207196772C>A	ENST00000359470.5	-	4	586	c.337G>T	c.(337-339)Gag>Tag	p.E113*	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	113						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GAGCTGGACTCAGTTACTGTC	0.542																																																	0													42	43	43					1																	207196772		2203	4297	6500	SO:0001587	stop_gained	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.337G>T	1.37:g.207196772C>A	ENSP00000352447:p.Glu113*		C9JV41|Q658X3	Nonsense_Mutation	SNP	NULL	p.E113*	ENST00000359470.5	37	c.337	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837397	0.71373	.	.	ENSG00000182795	ENST00000359470	.	.	.	4.49	-0.974	0.10293	.	1.976400	0.01851	N	0.035933	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	1.9499	4.4701	0.11708	0.0898:0.4478:0.315:0.1473	.	.	.	.	X	113	.	ENSP00000352447:E113X	E	-	1	0	C1orf116	205263395	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.051000	0.14141	-0.264000	0.09365	-0.823000	0.03104	GAG	C1orf116	-	NULL		0.542	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	C	NM_024115		207196772	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	207196772	C	A	207196772	4	1	164	1	0	0	0	0	0	1	0	0	1994	835	29	3	1472	3	C1orf116	1	207196772	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1059	207196772	42053849	78	30866										
PLXNA2	5362	genome.wustl.edu	37	chr1	208390910	208390910	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caggcggttctcagagtagtCaatgatgagcagcttgttga	13	7	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:208390910C>T	ENST00000367033.3	-	2	1115	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	120	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCAGAGTAGTCAATGATGAGC	0.582																																																	0													104	106	106					1																	208390910		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.358G>A	1.37:g.208390910C>T	ENSP00000356000:p.Asp120Asn		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D120N	ENST00000367033.3	37	c.358	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.175912	0.94807	.	.	ENSG00000076356	ENST00000367033	T	0.05382	3.45	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00349	-1.1798	10	0.72032	D	0.01	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	174;120	O75051-2;O75051	.;PLXA2_HUMAN	N	120	ENSP00000356000:D120N	ENSP00000356000:D120N	D	-	1	0	PLXNA2	206457533	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	7.538000	0.82048	2.697000	0.92050	0.563000	0.77884	GAC	PLXNA2	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	C	NM_025179		208390910	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	208390910	C	T	208390910	3	4	164	1	0	0	0	0	1	0	0	0	12144	826	29	1	5450	1	PLXNA2	1	208390910	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1194138	208390910	40859711	79	30867										
LAMB3	3914	genome.wustl.edu	37	chr1	209799070	209799070	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgctgagaactgctcggatCtgctcaatcttactctttgc	8	12	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:209799070C>T	ENST00000356082.4	-	14	2033	c.1899G>A	c.(1897-1899)caG>caA	p.Q633Q	LAMB3_ENST00000391911.1_Silent_p.Q633Q|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Silent_p.Q633Q	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	633	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGCTCGGATCTGCTCAATCT	0.617																																																	0													78	74	76					1																	209799070		2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1899G>A	1.37:g.209799070C>T			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.Q633	ENST00000356082.4	37	c.1899	CCDS1487.1	1																																																																																			LAMB3	-	NULL		0.617	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209799070	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	silent	SNP	0.855	T	T	209799070	C	T	209799070	2	4	164	1	0	0	0	0	0	0	0	1	8632	912	32	1		1	LAMB3	1	209799070	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1408160	209799070	39451551	80	30868										
TRAF3IP3	80342	genome.wustl.edu	37	chr1	209949007	209949007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccagtatgaggctctgaagGaggactggaggacccttggg	17	8	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:209949007G>C	ENST00000367024.1	+	11	1495	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E307Q|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.E63Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E307Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E327Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E307Q|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.E63Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	327						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GGCTCTGAAGGAGGACTGGAG	0.617																																																	0													56	56	56					1																	209949007		2203	4300	6503	SO:0001583	missense	80342				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.979G>C	1.37:g.209949007G>C	ENSP00000355991:p.Glu327Gln		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	NULL	p.E327Q	ENST00000367024.1	37	c.979	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930397	0.34096	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431	T;T;T;T;T;T;T;T	0.78246	-1.11;-1.16;-1.16;-1.16;-1.16;-1.11;-1.11;-1.16	4.78	4.78	0.61160	.	0.328943	0.27802	N	0.017799	T	0.69931	0.3166	L	0.58101	1.795	0.32646	N	0.520056	B;B;P;P	0.39576	0.205;0.205;0.679;0.624	B;B;B;B	0.36464	0.05;0.05;0.225;0.173	T	0.78630	-0.2129	10	0.62326	D	0.03	-16.5073	6.2502	0.20842	0.0946:0.0:0.72:0.1854	.	327;307;327;307	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	Q	307;327;307;327;307;63;63;63	ENSP00000383743:E307Q;ENSP00000355992:E327Q;ENSP00000355993:E307Q;ENSP00000355991:E327Q;ENSP00000010338:E307Q;ENSP00000355990:E63Q;ENSP00000418906:E63Q;ENSP00000417417:E63Q	ENSP00000010338:E307Q	E	+	1	0	TRAF3IP3	208015630	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.681000	0.37618	2.196000	0.70406	0.563000	0.77884	GAG	TRAF3IP3	-	NULL		0.617	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	G			209949007	1	no_errors	ENST00000367024	ensembl	human	known	70_37	missense	SNP	1.000	C	C	209949007	G	C	209949007	3	2	164	1	0	0	0	0	1	0	0	0	16473	1175	41	1	1013	1	TRAF3IP3	1	209949007	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	149937	209949007	39301614	81	30869										
FAM71A	149647	genome.wustl.edu	37	chr1	212799758	212799758	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaatctgggaggagcttatgGaccaccagttccggttccag	12	10	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:212799758G>A	ENST00000294829.3	+	1	1970	c.1539G>A	c.(1537-1539)tgG>tgA	p.W513*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	513						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGAGCTTATGGACCACCAGTT	0.562																																																	0													76	63	67					1																	212799758		2203	4300	6503	SO:0001587	stop_gained	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1539G>A	1.37:g.212799758G>A	ENSP00000294829:p.Trp513*		Q5VTZ1	Nonsense_Mutation	SNP	pfam_DUF3699	p.W513*	ENST00000294829.3	37	c.1539	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.796538	0.96952	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	.	.	.	4.04	-8.09	0.01090	.	1.503790	0.05058	N	0.479388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.9567	0.3514	0.00349	0.212:0.2145:0.2236:0.3499	.	.	.	.	X	513;288	.	ENSP00000294829:W513X	W	+	3	0	FAM71A	210866381	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.123000	0.00594	-1.850000	0.01169	-1.080000	0.02220	TGG	FAM71A	-	NULL		0.562	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	G	NM_153606		212799758	1	no_errors	ENST00000294829	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	212799758	G	A	212799758	4	1	164	1	0	0	0	0	0	1	0	0	5625	1183	41	1	1541	1	FAM71A	1	212799758	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2850751	212799758	36450863	82	30870										
CENPF	1063	genome.wustl.edu	37	chr1	214819778	214819778	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgaaggccacagaacagagtCtagacccaccaatagaggaa	10	10	1	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:214819778C>G	ENST00000366955.3	+	13	7033	c.6865C>G	c.(6865-6867)Cta>Gta	p.L2289V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2385	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAACAGAGTCTAGACCCACC	0.458																																					Colon(80;575 1284 11000 14801 43496)												0													68	74	72					1																	214819778		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6865C>G	1.37:g.214819778C>G	ENSP00000355922:p.Leu2289Val		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.L2289V	ENST00000366955.3	37	c.6865	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398551	0.42512	.	.	ENSG00000117724	ENST00000366955	T	0.04360	3.64	5.02	2.09	0.27110	.	0.634440	0.12078	N	0.501556	T	0.03178	0.0093	N	0.19112	0.55	0.09310	N	1	P	0.45044	0.849	B	0.39771	0.309	T	0.44483	-0.9325	10	0.33141	T	0.24	.	5.1499	0.15004	0.1425:0.6279:0.0:0.2295	.	2385	P49454	CENPF_HUMAN	V	2289	ENSP00000355922:L2289V	ENSP00000355922:L2289V	L	+	1	2	CENPF	212886401	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	0.026000	0.13599	0.700000	0.31782	0.514000	0.50259	CTA	CENPF	-	NULL		0.458	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214819778	1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.000	G	G	214819778	C	G	214819778	3	3	164	1	0	0	0	0	1	0	0	0	3236	912	32	1	6911	1	CENPF	1	214819778	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2020020	214819778	34430843	83	30871										
EPRS	2058	genome.wustl.edu	37	chr1	220184323	220184323	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tacttctttcatctcctcctGagcttcaggtacattcactg	5	13	5	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:220184323G>A	ENST00000366923.3	-	13	1839	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	524	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATCTCCTCCTGAGCTTCAGGT	0.413																																																	0													238	232	234					1																	220184323		2203	4300	6503	SO:0001587	stop_gained	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1570C>T	1.37:g.220184323G>A	ENSP00000355890:p.Gln524*		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Nonsense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.Q524*	ENST00000366923.3	37	c.1570	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.510430	0.98843	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	.	.	.	5.37	5.37	0.77165	.	0.160535	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2236	14.3454	0.66658	0.0:0.0:0.8519:0.1481	.	.	.	.	X	524;531;548	.	ENSP00000355890:Q524X	Q	-	1	0	EPRS	218250946	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	4.540000	0.60664	2.665000	0.90641	0.655000	0.94253	CAG	EPRS	-	pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Glu-tRNA-synth_Ib_arc/euk		0.413	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220184323	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	220184323	G	A	220184323	4	1	164	1	0	0	0	0	0	1	0	0	5203	1299	45	1	3048	1	EPRS	1	220184323	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5364545	220184323	29066298	84	30872										
HLX	3142	genome.wustl.edu	37	chr1	221057537	221057537	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccggtgtggcgcggcgcagGtgaaggtgtggttccagaac	18	10	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:221057537G>A	ENST00000366903.6	+	4	2459	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	HLX_ENST00000549319.1_Splice_Site_p.V106M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	320					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CGCGGCGCAGGTGAAGGTGTG	0.622																																																	0													37	42	40					1																	221057537		2203	4300	6503	SO:0001630	splice_region_variant	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.958-1G>A	1.37:g.221057537G>A			B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.V320M	ENST00000366903.6	37	c.958	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800267	0.90538	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.99023	-5.34;-4.99;-5.34	4.8	4.8	0.61643	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.49305	D	0.000153	D	0.99629	0.9864	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97362	0.9970	9	.	.	.	-26.0772	16.9979	0.86373	0.0:0.0:1.0:0.0	.	320	Q14774	HLX_HUMAN	M	320;53;106	ENSP00000355870:V320M;ENSP00000408248:V53M;ENSP00000449882:V106M	.	V	+	1	0	HLX	219124160	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	9.313000	0.96297	2.386000	0.81285	0.561000	0.74099	GTG	HLX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa		0.622	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	G	NM_021958	Missense_Mutation	221057537	1	no_errors	ENST00000366903	ensembl	human	known	70_37	missense	SNP	1.000	A	A	221057537	G	A	221057537	5	1	164	1	0	0	0	0	0	0	1	0	7236	1275	44	4	972	4	HLX	1	221057537	Splice_Site	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	873214	221057537	28193084	85	30873										
LEFTY2	7044	genome.wustl.edu	37	chr1	226125178	226125178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttggcacgagcgccccatccGaggcacagctgcacttctgc	11	16	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:226125178G>A	ENST00000366820.5	-	4	1412	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	LEFTY2_ENST00000420304.2_Missense_Mutation_p.S321L|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	355					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CGCCCCATCCGAGGCACAGCT	0.607																																					Colon(172;116 2643 9098 43333)												0													58	59	58					1																	226125178		2203	4300	6503	SO:0001583	missense	7044			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.1064C>T	1.37:g.226125178G>A	ENSP00000355785:p.Ser355Leu		B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF	p.S355L	ENST00000366820.5	37	c.1064	CCDS1549.1	1	.	.	.	.	.	.	.	.	.	.	g	15.26	2.779573	0.49891	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.66099	-0.0;-0.19	5.21	2.17	0.27698	.	0.474097	0.25154	N	0.032721	T	0.39655	0.1086	L	0.29908	0.895	0.27322	N	0.957022	P;P	0.45428	0.858;0.772	B;B	0.35114	0.196;0.196	T	0.25047	-1.0143	10	0.29301	T	0.29	.	6.4289	0.21786	0.1449:0.3046:0.5505:0.0	.	321;355	E9PDM4;O00292	.;LFTY2_HUMAN	L	321;355	ENSP00000388009:S321L;ENSP00000355785:S355L	ENSP00000355785:S355L	S	-	2	0	LEFTY2	224191801	0.264000	0.24093	0.804000	0.32291	0.938000	0.57974	1.239000	0.32719	0.643000	0.30638	0.561000	0.74099	TCG	LEFTY2	-	pirsf_LRDF		0.607	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEFTY2	HGNC	protein_coding	OTTHUMT00000091152.1	G	NM_003240		226125178	-1	no_errors	ENST00000366820	ensembl	human	known	70_37	missense	SNP	0.994	A	A	226125178	G	A	226125178	3	1	164	1	0	0	0	0	1	0	0	0	8736	1059	37	1	40	1	LEFTY2	1	226125178	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5067641	226125178	23125443	86	30874										
COG2	22796	genome.wustl.edu	37	chr1	230825835	230825835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcttcagagcggacacaagGataagctcaaacaagcaata	9	9	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:230825835G>A	ENST00000366669.4	+	16	1985	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N	COG2_ENST00000490900.1_3'UTR|COG2_ENST00000546013.1_Missense_Mutation_p.D313N|COG2_ENST00000535166.1_Missense_Mutation_p.D508N|COG2_ENST00000534989.1_Missense_Mutation_p.D565N|COG2_ENST00000366668.3_Missense_Mutation_p.D623N	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	624					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGGACACAAGGATAAGCTCAA	0.463																																																	0													116	118	118					1																	230825835		2203	4300	6503	SO:0001583	missense	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1870G>A	1.37:g.230825835G>A	ENSP00000355629:p.Asp624Asn		Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.D624N	ENST00000366669.4	37	c.1870	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972209	0.18736	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.91	4.05	0.47172	COG complex component, COG2, C-terminal (1);	0.373223	0.35615	N	0.003088	T	0.23054	0.0557	N	0.16233	0.39	0.09310	N	0.999994	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.21759	-1.0236	10	0.09843	T	0.71	-9.5267	9.3294	0.38012	0.277:0.0:0.723:0.0	.	623;624	Q86U99;Q14746	.;COG2_HUMAN	N	624;508;623;565;313	ENSP00000355629:D624N;ENSP00000445724:D508N;ENSP00000355628:D623N;ENSP00000440349:D565N;ENSP00000442147:D313N	ENSP00000355628:D623N	D	+	1	0	COG2	228892458	0.775000	0.28604	0.105000	0.21289	0.765000	0.43378	1.639000	0.37176	0.844000	0.35094	0.655000	0.94253	GAT	COG2	-	pfam_COG_complex_COG2_C		0.463	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	G	NM_007357		230825835	1	no_errors	ENST00000366669	ensembl	human	known	70_37	missense	SNP	0.136	A	A	230825835	G	A	230825835	3	1	164	1	0	0	0	0	1	0	0	0	3663	1174	41	1	1932	1	COG2	1	230825835	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4700657	230825835	18424786	87	30875										
CAPN9	10753	genome.wustl.edu	37	chr1	230903363	230903363	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acttcactgggggtgtggcaGagaccttccaaactaaagag	12	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:230903363G>A	ENST00000271971.2	+	5	726	c.613G>A	c.(613-615)Gag>Aag	p.E205K	CAPN9_ENST00000366666.2_Missense_Mutation_p.E142K|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.E205K	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	205	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGGTGTGGCAGAGACCTTCCA	0.532																																																	0													94	99	97					1																	230903363		2203	4300	6503	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.613G>A	1.37:g.230903363G>A	ENSP00000271971:p.Glu205Lys		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E205K	ENST00000271971.2	37	c.613	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.128333	0.94473	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.89617	-2.54;-2.54;-2.54	5.32	5.32	0.75619	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.96015	0.8702	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96850	0.9624	10	0.87932	D	0	.	19.0007	0.92832	0.0:0.0:1.0:0.0	.	142;205;205	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	K	205;205;142	ENSP00000271971:E205K;ENSP00000346538:E205K;ENSP00000355626:E142K	ENSP00000271971:E205K	E	+	1	0	CAPN9	228969986	1.000000	0.71417	0.996000	0.52242	0.651000	0.38670	9.550000	0.98110	2.474000	0.83562	0.655000	0.94253	GAG	CAPN9	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.532	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	G	NM_006615		230903363	1	no_errors	ENST00000271971	ensembl	human	known	70_37	missense	SNP	1.000	A	A	230903363	G	A	230903363	3	1	164	1	0	0	0	0	1	0	0	0	2637	943	33	1	631	1	CAPN9	1	230903363	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	77528	230903363	18347258	88	30876										
GNPAT	8443	genome.wustl.edu	37	chr1	231408083	231408083	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtctacagttgctttcgcttCctacgtgatgtttttgcaga	9	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:231408083C>T	ENST00000366647.4	+	11	1717	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	GNPAT_ENST00000366646.3_Silent_p.F455F	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	516					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTTTCGCTTCCTACGTGATG	0.388																																																	0													304	287	293					1																	231408083		2203	4300	6503	SO:0001819	synonymous_variant	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1548C>T	1.37:g.231408083C>T			B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.F516	ENST00000366647.4	37	c.1548	CCDS1592.1	1																																																																																			GNPAT	-	NULL		0.388	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	C			231408083	1	no_errors	ENST00000366647	ensembl	human	known	70_37	silent	SNP	1.000	T	T	231408083	C	T	231408083	2	4	164	1	0	0	0	0	0	0	0	1	6560	854	30	1		1	GNPAT	1	231408083	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	504720	231408083	17842538	89	30877										
C1orf124	83932	genome.wustl.edu	37	chr1	231474190	231474190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agtggaacttgcaggaggcgGagcgcgatcatgcccaggag	17	9	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:231474190G>A	ENST00000295050.7	+	1	397	c.61G>A	c.(61-63)Gag>Aag	p.E21K	SPRTN_ENST00000008440.9_Missense_Mutation_p.E21K|EXOC8_ENST00000360394.2_5'Flank|SPRTN_ENST00000391858.4_Missense_Mutation_p.E21K|EXOC8_ENST00000366645.1_5'Flank	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	21					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										GCAGGAGGCGGAGCGCGATCA	0.607																																																	0													115	105	108					1																	231474190		2203	4300	6503	SO:0001583	missense	83932			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"SprT-like domain at the N terminus", "DNA damage-targeting VCP (p97) adaptor"		"chromosome 1 open reading frame 124"	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.61G>A	1.37:g.231474190G>A	ENSP00000295050:p.Glu21Lys		B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put	p.E21K	ENST00000295050.7	37	c.61	CCDS1594.1	1	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131752	0.06753	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269	T	0.43294	0.95	4.67	-0.827	0.10802	.	1.221410	0.05412	N	0.542674	T	0.30230	0.0758	L	0.47716	1.5	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.22800	-1.0206	10	0.05959	T	0.93	-0.0876	6.4768	0.22041	0.2258:0.2766:0.4976:0.0	.	21;21;21	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	K	21	ENSP00000295050:E21K	ENSP00000008440:E21K	E	+	1	0	C1orf124	229540813	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.634000	0.24614	-0.053000	0.13289	0.462000	0.41574	GAG	SPRTN	-	NULL		0.607	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRTN	HGNC	protein_coding	OTTHUMT00000092858.1	G	NM_032018		231474190	1	no_errors	ENST00000295050	ensembl	human	known	70_37	missense	SNP	0.000	A	A	231474190	G	A	231474190	3	1	164	1	0	0	0	0	1	0	0	0	1997	1175	41	1	63	1	C1orf124	1	231474190	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	66107	231474190	17776431	90	30878										
ACTN2	88	genome.wustl.edu	37	chr1	236925802	236925802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgcgtcgggagctgcccccGgatcaggcccagtactgcat	13	15	1	0	rs149554430		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:236925802G>A	ENST00000366578.4	+	21	2734	c.2568G>A	c.(2566-2568)ccG>ccA	p.P856P	ACTN2_ENST00000546208.1_Silent_p.P350P|ACTN2_ENST00000542672.1_Silent_p.P856P	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	856					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGCTGCCCCCGGATCAGGCCC	0.572																																																	0								G		0,4406		0,0,2203	51	52	52		2568	-10.9	0.4	1	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ACTN2	NM_001103.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		856/895	236925802	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2568G>A	1.37:g.236925802G>A			B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.P856	ENST00000366578.4	37	c.2568	CCDS1613.1	1																																																																																			ACTN2	-	pfam_EF-hand_Ca_insen		0.572	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	G	NM_001103		236925802	1	no_errors	ENST00000366578	ensembl	human	known	70_37	silent	SNP	0.035	A	A	236925802	G	A	236925802	2	1	164	1	0	0	0	0	0	0	0	1	205	1103	39	2		2	ACTN2	1	236925802	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5451612	236925802	12324819	91	30879										
FMN2	56776	genome.wustl.edu	37	chr1	240256841	240256841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccgacggcggccttgcggccGgcctgagccgctcggctgac	16	17	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:240256841G>A	ENST00000319653.9	+	1	1662	c.1432G>A	c.(1432-1434)Ggc>Agc	p.G478S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	478					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTTGCGGCCGGCCTGAGCCG	0.761																																																	0													7	10	9					1																	240256841		2091	4059	6150	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1432G>A	1.37:g.240256841G>A	ENSP00000318884:p.Gly478Ser		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.G478S	ENST00000319653.9	37	c.1432	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928885	0.52759	.	.	ENSG00000155816	ENST00000319653	T	0.80033	-1.33	4.04	4.04	0.47022	.	0.509560	0.18286	N	0.145875	T	0.80171	0.4574	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.76358	-0.2988	10	0.30078	T	0.28	.	10.1216	0.42623	0.0926:0.0:0.9074:0.0	.	478	Q9NZ56	FMN2_HUMAN	S	478	ENSP00000318884:G478S	ENSP00000318884:G478S	G	+	1	0	FMN2	238323464	0.994000	0.37717	0.912000	0.35992	0.916000	0.54674	2.489000	0.45285	2.080000	0.62538	0.563000	0.77884	GGC	FMN2	-	NULL		0.761	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	G	XM_371352		240256841	1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.996	A	A	240256841	G	A	240256841	3	1	164	1	0	0	0	0	1	0	0	0	5968	1116	39	2	1434	2	FMN2	1	240256841	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3331039	240256841	8993780	92	30880										
CEP170	9859	genome.wustl.edu	37	chr1	243303301	243303301	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcgggaggctctgctgcttGaggtcttggatcaccagatc	13	10	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:243303301G>A	ENST00000366542.1	-	16	4219	c.4168C>T	c.(4168-4170)Caa>Taa	p.Q1390*	CEP170_ENST00000468254.1_5'UTR|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000366544.1_Nonsense_Mutation_p.Q1292*|CEP170_ENST00000481987.1_Nonsense_Mutation_p.Q126*|CEP170_ENST00000490813.1_Nonsense_Mutation_p.Q99*|CEP170_ENST00000366543.1_Nonsense_Mutation_p.Q1266*	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1390	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCTGCTGCTTGAGGTCTTGGA	0.438																																																	0													60	52	55					1																	243303301		1816	4057	5873	SO:0001587	stop_gained	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4168C>T	1.37:g.243303301G>A	ENSP00000355500:p.Gln1390*		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.Q1390*	ENST00000366542.1	37	c.4168	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.484725	0.99184	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936;ENST00000492145	.	.	.	5.27	5.27	0.74061	.	0.164826	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-6.7811	18.2502	0.90000	0.0:0.0:1.0:0.0	.	.	.	.	X	1390;1292;1266;126;325;99;182;99;99	.	ENSP00000355500:Q1390X	Q	-	1	0	CEP170	241369924	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	7.066000	0.76734	2.626000	0.88956	0.557000	0.71058	CAA	CEP170	-	NULL		0.438	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	G	NM_014812		243303301	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	243303301	G	A	243303301	4	1	164	1	0	0	0	0	0	1	0	0	3255	1299	45	1	606	1	CEP170	1	243303301	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3046460	243303301	5947320	93	30881										
OR2M3	127062	genome.wustl.edu	37	chr1	248366381	248366381	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atacacatcatggcaagggaGaattcgaccttcaactccga	8	11	2	1	rs373873423		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:248366381G>A	ENST00000456743.1	+	1	50	c.12G>A	c.(10-12)gaG>gaA	p.E4E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGCAAGGGAGAATTCGACCT	0.443																																																	0													188	188	188					1																	248366381		2203	4300	6503	SO:0001819	synonymous_variant	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.12G>A	1.37:g.248366381G>A			B9EH06|Q6IEY0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E4	ENST00000456743.1	37	c.12	CCDS31107.1	1																																																																																			OR2M3	-	NULL		0.443	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	HGNC	protein_coding	OTTHUMT00000097355.1	G	NM_001004689		248366381	1	no_errors	ENST00000456743	ensembl	human	known	70_37	silent	SNP	0.095	A	A	248366381	G	A	248366381	2	1	164	1	0	0	0	0	0	0	0	1	11035	933	33	1		1	OR2M3	1	248366381	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5063080	248366381	884240	94	30882										
OR2M7	391196	genome.wustl.edu	37	chr1	248487754	248487754	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	accatgatggagtttcccatGaaggccactgaaaagatggc	11	9	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:248487754G>C	ENST00000317965.2	-	1	145	c.117C>G	c.(115-117)ttC>ttG	p.F39L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTTTCCCATGAAGGCCACTG	0.527																																																	0													263	257	259					1																	248487754		2203	4300	6503	SO:0001583	missense	391196			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.117C>G	1.37:g.248487754G>C	ENSP00000324557:p.Phe39Leu		B2RNL0|Q6IEX6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F39L	ENST00000317965.2	37	c.117	CCDS31111.1	1	.	.	.	.	.	.	.	.	.	.	G	0	-2.835594	0.00069	.	.	ENSG00000177186	ENST00000317965	T	0.00293	8.26	1.55	-1.3	0.09259	.	1.307360	0.05938	N	0.636514	T	0.00039	0.0001	N	0.00055	-2.375	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34775	-0.9815	10	0.02654	T	1	.	6.0455	0.19758	0.0:0.3473:0.4719:0.1807	.	39	Q8NG81	OR2M7_HUMAN	L	39	ENSP00000324557:F39L	ENSP00000324557:F39L	F	-	3	2	OR2M7	246554377	0.000000	0.05858	0.053000	0.19242	0.342000	0.28953	-2.627000	0.00874	-0.026000	0.13895	0.194000	0.17425	TTC	OR2M7	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.527	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1	G	NM_001004691		248487754	-1	no_errors	ENST00000317965	ensembl	human	known	70_37	missense	SNP	0.001	C	C	248487754	G	C	248487754	3	2	164	1	0	0	0	0	1	0	0	0	11038	1281	45	1	824	1	OR2M7	1	248487754	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	121373	248487754	762867	95	30883										
TPO	7173	genome.wustl.edu	37	chr2	1440117	1440117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgcccaaacacttgcctggCgaacaaatacaggcccatca	7	14	1	0	rs138509145		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:1440117C>T	ENST00000345913.4	+	5	534	c.443C>T	c.(442-444)gCg>gTg	p.A148V	TPO_ENST00000539820.1_Missense_Mutation_p.A148V|TPO_ENST00000349624.3_Missense_Mutation_p.A148V|TPO_ENST00000346956.3_Missense_Mutation_p.A148V|TPO_ENST00000382269.3_Missense_Mutation_p.A148V|TPO_ENST00000329066.4_Missense_Mutation_p.A148V|TPO_ENST00000382201.3_Missense_Mutation_p.A148V|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A148V|TPO_ENST00000382198.1_Missense_Mutation_p.A148V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	148					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.A148E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTTGCCTGGCGAACAAATAC	0.443																																																	1	Substitution - Missense(1)	kidney(1)						C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	132	127	129		443,443,443,443,443,443	3.3	0.5	2	dbSNP_134	129	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	64,64,64,64,64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	148/934,148/934,148/877,148/877,148/890,148/761	1440117	2,13004	2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.443C>T	2.37:g.1440117C>T	ENSP00000318820:p.Ala148Val		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A148V	ENST00000345913.4	37	c.443	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192264	0.38707	0.0	2.33E-4	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.14	3.33	0.38152	.	0.506549	0.22588	N	0.058121	T	0.67906	0.2943	M	0.75447	2.3	0.25261	N	0.989598	D;P;D;D;D	0.89917	1.0;0.828;1.0;1.0;0.998	D;B;D;D;P	0.79784	0.978;0.236;0.993;0.978;0.741	T	0.58278	-0.7664	10	0.48119	T	0.1	-13.8607	9.033	0.36271	0.0:0.8241:0.0:0.1759	.	148;148;148;148;148	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	V	148;148;148;148;148;148;148;148;148;148;77	ENSP00000371704:A148V;ENSP00000337263:A148V;ENSP00000318820:A148V;ENSP00000263886:A148V;ENSP00000332044:A148V;ENSP00000444840:A148V;ENSP00000329869:A148V;ENSP00000371636:A148V;ENSP00000390994:A148V;ENSP00000371633:A148V;ENSP00000405788:A77V	ENSP00000329869:A148V	A	+	2	0	TPO	1419124	0.870000	0.30015	0.536000	0.28039	0.033000	0.12548	1.478000	0.35442	0.560000	0.29169	0.313000	0.20887	GCG	TPO	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.443	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	C	NM_000547		1440117	1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.825	T	T	1440117	C	T	1440117	3	4	164	1	0	0	0	0	1	0	0	0	16441	768	27	2	457	2	TPO	2	1440117	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09		1440117	241759256	96	30884										
TPO	7173	genome.wustl.edu	37	chr2	1491622	1491622	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acccactaatacgaggccttCttgcaagaccagccaaactg	7	14	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:1491622C>T	ENST00000345913.4	+	10	1718	c.1627C>T	c.(1627-1629)Ctt>Ttt	p.L543F	TPO_ENST00000349624.3_Missense_Mutation_p.L370F|TPO_ENST00000346956.3_Missense_Mutation_p.L543F|TPO_ENST00000329066.4_Missense_Mutation_p.L543F|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.L543F|TPO_ENST00000382198.1_Missense_Mutation_p.L370F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	543					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGAGGCCTTCTTGCAAGACC	0.493																																																	0													109	89	96					2																	1491622		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1627C>T	2.37:g.1491622C>T	ENSP00000318820:p.Leu543Phe		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L543F	ENST00000345913.4	37	c.1627	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648293	0.29336	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.88	4.0	0.46444	.	0.201989	0.42964	D	0.000627	T	0.64159	0.2573	L	0.43646	1.37	0.51767	D	0.999937	P;D;P	0.54964	0.815;0.969;0.847	P;P;P	0.49085	0.45;0.6;0.586	T	0.62374	-0.6868	10	0.36615	T	0.2	-21.4084	12.4045	0.55432	0.306:0.694:0.0:0.0	.	543;370;543	P07202-4;P07202-5;P07202	.;.;PERT_HUMAN	F	543;543;543;370;543;370;472	ENSP00000337263:L543F;ENSP00000318820:L543F;ENSP00000263886:L543F;ENSP00000332044:L370F;ENSP00000329869:L543F;ENSP00000371633:L370F;ENSP00000405788:L472F	ENSP00000329869:L543F	L	+	1	0	TPO	1470629	0.061000	0.20836	0.033000	0.17914	0.338000	0.28826	0.467000	0.22035	1.032000	0.39892	0.591000	0.81541	CTT	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.493	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	C	NM_000547		1491622	1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.162	T	T	1491622	C	T	1491622	3	4	164	1	0	0	0	0	1	0	0	0	16441	913	32	1	1661	1	TPO	2	1491622	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	51505	1491622	241707751	97	30885										
KCNF1	3754	genome.wustl.edu	37	chr2	11053024	11053024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acctgggcgtggacgcagccGagggccgctggcgccgctgc	18	15	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:11053024G>A	ENST00000295082.1	+	1	962	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	158					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGACGCAGCCGAGGGCCGCTG	0.692																																																	0													27	37	33					2																	11053024		2194	4282	6476	SO:0001583	missense	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.472G>A	2.37:g.11053024G>A	ENSP00000295082:p.Glu158Lys		O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.E158K	ENST00000295082.1	37	c.472	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735422	0.49045	.	.	ENSG00000162975	ENST00000295082	D	0.98090	-4.71	5.19	4.29	0.51040	.	0.304686	0.35407	N	0.003234	D	0.94298	0.8168	L	0.39898	1.24	0.47994	D	0.999568	B	0.33857	0.429	B	0.24269	0.052	D	0.92909	0.6346	10	0.18276	T	0.48	.	15.8865	0.79255	0.0:0.1359:0.8641:0.0	.	158	Q9H3M0	KCNF1_HUMAN	K	158	ENSP00000295082:E158K	ENSP00000295082:E158K	E	+	1	0	KCNF1	10970475	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	7.603000	0.82811	1.267000	0.44247	0.563000	0.77884	GAG	KCNF1	-	NULL		0.692	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	G	NM_002236		11053024	1	no_errors	ENST00000295082	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11053024	G	A	11053024	3	1	164	1	0	0	0	0	1	0	0	0	8046	1059	37	1	474	1	KCNF1	2	11053024	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	9561402	11053024	232146349	98	30886										
OSR1	130497	genome.wustl.edu	37	chr2	19553095	19553095	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccttgtgggcttcttttctgGagacagcttggtcacgtcga	12	10	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:19553095G>C	ENST00000272223.2	-	2	816	c.472C>G	c.(472-474)Cca>Gca	p.P158A	OSR1_ENST00000536433.1_Missense_Mutation_p.P158A	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	158					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TTCTTTTCTGGAGACAGCTTG	0.607																																																	0													79	80	80					2																	19553095		2203	4300	6503	SO:0001583	missense	130497			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.472C>G	2.37:g.19553095G>C	ENSP00000272223:p.Pro158Ala		B3KV97|D6W521	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P158A	ENST00000272223.2	37	c.472	CCDS1694.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044173	0.75732	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.08370	3.1;3.1	5.94	5.94	0.96194	.	0.048724	0.85682	D	0.000000	T	0.15435	0.0372	L	0.58428	1.81	0.80722	D	1	P	0.35124	0.485	B	0.39904	0.313	T	0.01635	-1.1307	9	.	.	.	-8.7799	20.0187	0.97487	0.0:0.0:1.0:0.0	.	158	Q8TAX0	OSR1_HUMAN	A	158	ENSP00000272223:P158A;ENSP00000441801:P158A	.	P	-	1	0	OSR1	19416576	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	6.770000	0.74990	2.834000	0.97654	0.650000	0.86243	CCA	OSR1	-	NULL		0.607	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2	G	NM_145260		19553095	-1	no_errors	ENST00000272223	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19553095	G	C	19553095	3	2	164	1	0	0	0	0	1	0	0	0	11317	1174	41	1	336	1	OSR1	2	19553095	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8500071	19553095	223646278	99	30887										
OSR1	130497	genome.wustl.edu	37	chr2	19553114	19553114	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggagacagcttggtcacgtcGaggagggcacccagcccacc	14	14	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:19553114G>C	ENST00000272223.2	-	2	797	c.453C>G	c.(451-453)ctC>ctG	p.L151L	OSR1_ENST00000536433.1_Silent_p.L151L	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	151					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGGTCACGTCGAGGAGGGCAC	0.607																																																	0													63	67	66					2																	19553114		2203	4300	6503	SO:0001819	synonymous_variant	130497			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.453C>G	2.37:g.19553114G>C			B3KV97|D6W521	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L151	ENST00000272223.2	37	c.453	CCDS1694.1	2																																																																																			OSR1	-	NULL		0.607	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2	G	NM_145260		19553114	-1	no_errors	ENST00000272223	ensembl	human	known	70_37	silent	SNP	0.994	C	C	19553114	G	C	19553114	2	2	164	1	0	0	0	0	0	0	0	1	11317	1045	37	1		1	OSR1	2	19553114	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	19	19553114	223646259	100	30888										
C2orf43	60526	genome.wustl.edu	37	chr2	21001202	21001202	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcctcatgcacaggaatttCttccttgagttctgagtcca	7	11	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:21001202C>T	ENST00000237822.3	-	2	101	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.E8K|C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000435420.2_Missense_Mutation_p.E8K|C2orf43_ENST00000419825.2_Missense_Mutation_p.E8K|C2orf43_ENST00000440866.2_Missense_Mutation_p.E8K	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	8										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGAATTTCTTCCTTGAGT	0.393																																																	0													78	79	79					2																	21001202		2203	4300	6503	SO:0001583	missense	60526			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.22G>A	2.37:g.21001202C>T	ENSP00000237822:p.Glu8Lys		B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	pfam_DUF2305	p.E8K	ENST00000237822.3	37	c.22	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919623	0.33908	.	.	ENSG00000118961	ENST00000381090;ENST00000237822;ENST00000435420;ENST00000440866;ENST00000412261;ENST00000402479;ENST00000419825	.	.	.	5.94	5.06	0.68205	.	0.924076	0.09367	N	0.811876	T	0.34861	0.0912	L	0.47716	1.5	0.21984	N	0.999431	B;B;B;P;B;P	0.39282	0.294;0.346;0.335;0.666;0.346;0.602	B;B;B;B;B;B	0.33339	0.057;0.084;0.058;0.162;0.057;0.138	T	0.12319	-1.0552	9	0.08599	T	0.76	-5.5952	14.7402	0.69448	0.0:0.6109:0.3891:0.0	.	8;8;8;8;8;8	B4DS38;B4DRG3;B7ZAJ5;B4DWE2;Q9H6V9;B5MDU6	.;.;.;.;CB043_HUMAN;.	K	8	.	ENSP00000237822:E8K	E	-	1	0	C2orf43	20864683	0.996000	0.38824	0.896000	0.35187	0.322000	0.28314	2.382000	0.44345	1.502000	0.48669	0.561000	0.74099	GAA	C2orf43	-	NULL		0.393	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	HGNC	protein_coding	OTTHUMT00000242861.1	C	NM_021925		21001202	-1	no_errors	ENST00000237822	ensembl	human	known	70_37	missense	SNP	0.889	T	T	21001202	C	T	21001202	3	4	164	1	0	0	0	0	1	0	0	0	2172	922	32	1	979	1	C2orf43	2	21001202	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1448088	21001202	222198171	101	30889										
APOB	338	genome.wustl.edu	37	chr2	21260896	21260896	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agggcagaaatgatgcccctCttgatgttcaggatgtaagt	12	7	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:21260896C>T	ENST00000233242.1	-	5	598	c.471G>A	c.(469-471)aaG>aaA	p.K157K	APOB_ENST00000399256.4_Silent_p.K157K	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	157	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCCCTCTTGATGTTCA	0.498																																																	0													123	121	122					2																	21260896		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.471G>A	2.37:g.21260896C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.K157	ENST00000233242.1	37	c.471	CCDS1703.1	2																																																																																			APOB	-	pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21260896	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	silent	SNP	1.000	T	T	21260896	C	T	21260896	2	4	164	1	0	0	0	0	0	0	0	1	785	912	32	1		1	APOB	2	21260896	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	259694	21260896	221938477	102	30890										
ASXL2	55252	genome.wustl.edu	37	chr2	25966982	25966982	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggaccacagggtaaaagctCtctcgtacctcccctgcttc	8	15	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:25966982C>T	ENST00000435504.4	-	13	2517	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	ASXL2_ENST00000336112.4_Missense_Mutation_p.E714K|ASXL2_ENST00000404843.1_Missense_Mutation_p.E482K|ASXL2_ENST00000272341.4_Missense_Mutation_p.E482K			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	742					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAAAAGCTCTCTCGTACCT	0.572																																																	0													103	106	105					2																	25966982		2022	4179	6201	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2224G>A	2.37:g.25966982C>T	ENSP00000391447:p.Glu742Lys		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E742K	ENST00000435504.4	37	c.2224		2	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566448	0.27915	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18016	2.24;2.24;2.25;2.25	5.94	5.94	0.96194	.	0.640407	0.15175	N	0.276424	T	0.28167	0.0695	L	0.51422	1.61	0.33147	D	0.545139	P;D	0.60575	0.617;0.988	B;P	0.54759	0.242;0.76	T	0.10109	-1.0644	10	0.27082	T	0.32	-22.3937	13.2099	0.59819	0.0:0.9235:0.0:0.0765	.	482;742	Q76L83-2;Q76L83	.;ASXL2_HUMAN	K	742;714;482;482	ENSP00000391447:E742K;ENSP00000337250:E714K;ENSP00000383920:E482K;ENSP00000272341:E482K	ENSP00000272341:E482K	E	-	1	0	ASXL2	25820486	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.835000	0.55805	2.816000	0.96949	0.563000	0.77884	GAG	ASXL2	-	NULL		0.572	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	C	NM_018263		25966982	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25966982	C	T	25966982	3	4	164	1	0	0	0	0	1	0	0	0	1068	922	32	1	2087	1	ASXL2	2	25966982	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4706086	25966982	217232391	103	30891										
IFT172	26160	genome.wustl.edu	37	chr2	27684268	27684268	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccagctttgaggtagaggctGatggctgctagcccatcccc	12	13	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:27684268G>A	ENST00000260570.3	-	22	2413	c.2310C>T	c.(2308-2310)atC>atT	p.I770I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	770					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGTAGAGGCTGATGGCTGCTA	0.567																																																	0													105	99	101					2																	27684268		2203	4300	6503	SO:0001819	synonymous_variant	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2310C>T	2.37:g.27684268G>A			A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.I770	ENST00000260570.3	37	c.2310	CCDS1755.1	2																																																																																			IFT172	-	superfamily_ARM-type_fold		0.567	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	G	NM_015662		27684268	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27684268	G	A	27684268	2	1	164	1	0	0	0	0	0	0	0	1	7577	1280	45	1		1	IFT172	2	27684268	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1717286	27684268	215515105	104	30892										
BIRC6	57448	genome.wustl.edu	37	chr2	32693008	32693008	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttacgggagtacaaatgccaGagccaaaatcccattaggat	9	9	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:32693008G>A	ENST00000421745.2	+	28	5743	c.5609G>A	c.(5608-5610)aGa>aAa	p.R1870K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1870					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAAATGCCAGAGCCAAAATC	0.368																																					Pancreas(94;175 1509 16028 18060 45422)												0													65	66	65					2																	32693008		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5609G>A	2.37:g.32693008G>A	ENSP00000393596:p.Arg1870Lys		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.R1870K	ENST00000421745.2	37	c.5609	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377128	0.82682	.	.	ENSG00000115760	ENST00000421745	T	0.75704	-0.96	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	L	0.28649	0.875	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.80986	-0.1137	10	0.62326	D	0.03	.	20.3342	0.98733	0.0:0.0:1.0:0.0	.	1870	Q9NR09	BIRC6_HUMAN	K	1870	ENSP00000393596:R1870K	ENSP00000393596:R1870K	R	+	2	0	BIRC6	32546512	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.623000	0.98386	2.822000	0.97130	0.650000	0.86243	AGA	BIRC6	-	superfamily_Galactose-bd-like		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	G	NM_016252		32693008	1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32693008	G	A	32693008	3	1	164	1	0	0	0	0	1	0	0	0	1439	942	33	1	5719	1	BIRC6	2	32693008	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5008740	32693008	210506365	105	30893										
VIT	5212	genome.wustl.edu	37	chr2	37035659	37035659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tactcgctccacgtgcagagCtggtttggcctccacaagac	10	14	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:37035659C>T	ENST00000389975.3	+	14	1691	c.1389C>T	c.(1387-1389)agC>agT	p.S463S	VIT_ENST00000497382.1_Silent_p.S132S|VIT_ENST00000379242.3_Silent_p.S478S|VIT_ENST00000404084.1_Silent_p.S415S|VIT_ENST00000401530.1_Silent_p.S442S|VIT_ENST00000379241.3_Silent_p.S441S	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	463	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACGTGCAGAGCTGGTTTGGCC	0.602																																																	0													41	37	38					2																	37035659		2203	4300	6503	SO:0001819	synonymous_variant	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1389C>T	2.37:g.37035659C>T			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.S478	ENST00000389975.3	37	c.1434	CCDS54347.1	2																																																																																			VIT	-	smart_VWF_A,pfscan_VWF_A		0.602	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		C			37035659	1	no_errors	ENST00000379242	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37035659	C	T	37035659	2	4	164	1	0	0	0	0	0	0	0	1	17202	796	28	4		4	VIT	2	37035659	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4342651	37035659	206163714	106	30894										
C2orf34	79823	genome.wustl.edu	37	chr2	44981214	44981214	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctgtttctggaccagtacaGagccagccttgttgatgcaa	10	11	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:44981214G>A	ENST00000378494.3	+	9	763	c.719G>A	c.(718-720)aGa>aAa	p.R240K		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	240						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GACCAGTACAGAGCCAGCCTT	0.413																																																	0													276	278	277					2																	44981214		2203	4300	6503	SO:0001583	missense	79823				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.719G>A	2.37:g.44981214G>A	ENSP00000367755:p.Arg240Lys		Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.R240K	ENST00000378494.3	37	c.719	CCDS1820.1	2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597611	0.87055	.	.	ENSG00000143919	ENST00000378494	T	0.06294	3.32	5.79	5.79	0.91817	.	0.085529	0.85682	D	0.000000	T	0.26557	0.0649	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00329	-1.1813	10	0.28530	T	0.3	-11.8208	20.04	0.97581	0.0:0.0:1.0:0.0	.	240	Q7Z624	CMKMT_HUMAN	K	240	ENSP00000367755:R240K	ENSP00000367755:R240K	R	+	2	0	CAMKMT	44834718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	AGA	CAMKMT	-	pfam_Nicotinamide_N-MeTfrase-like		0.413	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	HGNC	protein_coding	OTTHUMT00000250678.2	G	NM_024766		44981214	1	no_errors	ENST00000378494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44981214	G	A	44981214	3	1	164	1	0	0	0	0	1	0	0	0	2168	942	33	1	753	1	C2orf34	2	44981214	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7945555	44981214	198218159	107	30895										
SIX3	6496	genome.wustl.edu	37	chr2	45169636	45169636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcaacaaacacgagtcgatCctgcgcgcgcgcgccgtggt	12	14	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:45169636C>T	ENST00000260653.3	+	1	735	c.393C>T	c.(391-393)atC>atT	p.I131I	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	131					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGAGTCGATCCTGCGCGCGC	0.667																																																	0													12	15	14					2																	45169636		2080	4123	6203	SO:0001819	synonymous_variant	6496			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.393C>T	2.37:g.45169636C>T			D6W5A5|Q53T42	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.I131	ENST00000260653.3	37	c.393	CCDS1821.1	2																																																																																			SIX3	-	NULL		0.667	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1	C	NM_005413		45169636	1	no_errors	ENST00000260653	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45169636	C	T	45169636	2	4	164	1	0	0	0	0	0	0	0	1	14378	845	30	1		1	SIX3	2	45169636	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	188422	45169636	198029737	108	30896										
SMEK2	57223	genome.wustl.edu	37	chr2	55842596	55842596	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caactacttgcctgttgtttCtgatatgcagtatttggatt	8	7	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:55842596C>T	ENST00000345102.5	-	2	490	c.189G>A	c.(187-189)caG>caA	p.Q63Q	RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000407823.3_Silent_p.Q63Q|SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000272313.5_Silent_p.Q63Q	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	63	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCTGTTGTTTCTGATATGCAG	0.318																																																	0													93	97	95					2																	55842596		2201	4299	6500	SO:0001819	synonymous_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.189G>A	2.37:g.55842596C>T			Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.Q63	ENST00000345102.5	37	c.189	CCDS46289.1	2																																																																																			SMEK2	-	NULL		0.318	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	C	NM_020463		55842596	-1	no_errors	ENST00000272313	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55842596	C	T	55842596	2	4	164	1	0	0	0	0	0	0	0	1	14824	912	32	1		1	SMEK2	2	55842596	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10672960	55842596	187356777	109	30897										
MEIS1	4211	genome.wustl.edu	37	chr2	66664989	66664989	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acctgaaccacgggcctcctCtgcactcgcatcagtacccg	8	18	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:66664989C>T	ENST00000272369.9	+	2	590	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	MEIS1_ENST00000488550.1_Silent_p.L45L|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000407092.2_Silent_p.L45L|MEIS1_ENST00000560281.2_Silent_p.L45L|MEIS1_ENST00000398506.2_Silent_p.L43L|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000444274.2_Silent_p.L13L|MEIS1_ENST00000495021.2_5'Flank	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	45					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CGGGCCTCCTCTGCACTCGCA	0.597																																																	0													41	44	43					2																	66664989		2103	4235	6338	SO:0001819	synonymous_variant	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.133C>T	2.37:g.66664989C>T			A8MV50	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L45	ENST00000272369.9	37	c.133	CCDS46309.1	2																																																																																			MEIS1	-	NULL		0.597	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	C	NM_002398		66664989	1	no_errors	ENST00000407092	ensembl	human	known	70_37	silent	SNP	1.000	T	T	66664989	C	T	66664989	2	4	164	1	0	0	0	0	0	0	0	1	9490	912	32	1		1	MEIS1	2	66664989	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10822393	66664989	176534384	110	30898										
AAK1	22848	genome.wustl.edu	37	chr2	69757802	69757802	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attttgccactgtacaggttGaccatttctggtgctcgata	9	9	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:69757802G>A	ENST00000409085.4	-	7	1069	c.693C>T	c.(691-693)gtC>gtT	p.V231V	AAK1_ENST00000406297.3_Silent_p.V231V|AAK1_ENST00000409068.1_Silent_p.V231V|AAK1_ENST00000470281.1_5'Flank	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGTACAGGTTGACCATTTCTG	0.398																																																	0													167	149	155					2																	69757802		1970	4166	6136	SO:0001819	synonymous_variant	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.693C>T	2.37:g.69757802G>A			Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V231	ENST00000409085.4	37	c.693	CCDS1893.2	2																																																																																			AAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.398	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	G	NM_014911		69757802	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	silent	SNP	1.000	A	A	69757802	G	A	69757802	2	1	164	1	0	0	0	0	0	0	0	1	16	1277	45	1		1	AAK1	2	69757802	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3092813	69757802	173441571	111	30899										
PCYOX1	51449	genome.wustl.edu	37	chr2	70485306	70485306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgtggaggccatggggcgcGtcgtcgcggagctcgtctcc	17	12	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:70485306G>A	ENST00000433351.2	+	1	38	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	PCYOX1_ENST00000545138.1_5'Flank|PCYOX1_ENST00000264441.5_Missense_Mutation_p.V4I|PCYOX1_ENST00000505044.2_Intron	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	4					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CATGGGGCGCGTCGTCGCGGA	0.716																																																	0													37	38	38					2																	70485306		2202	4300	6502	SO:0001583	missense	51449			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.10G>A	2.37:g.70485306G>A	ENSP00000387654:p.Val4Ile		B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.V4I	ENST00000433351.2	37	c.10	CCDS1902.1	2	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502944	0.26949	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.43294	2.55;0.95	4.54	-9.08	0.00720	.	3.212120	0.01097	N	0.005291	T	0.17492	0.0420	N	0.08118	0	0.09310	N	0.999995	B;B	0.20261	0.043;0.043	B;B	0.10450	0.005;0.005	T	0.09058	-1.0692	10	0.20046	T	0.44	0.9988	4.8785	0.13668	0.1247:0.1016:0.5163:0.2575	.	4;4	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	I	4	ENSP00000387654:V4I;ENSP00000264441:V4I	ENSP00000264441:V4I	V	+	1	0	PCYOX1	70338810	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.781000	0.00773	-1.795000	0.01255	-0.389000	0.06534	GTC	PCYOX1	-	pirsf_Prenylcysteine_Oxase		0.716	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	G	NM_016297		70485306	1	no_errors	ENST00000433351	ensembl	human	known	70_37	missense	SNP	0.000	A	A	70485306	G	A	70485306	3	1	164	1	0	0	0	0	1	0	0	0	11632	1145	40	2	12	2	PCYOX1	2	70485306	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	727504	70485306	172714067	112	30900										
PCYOX1	51449	genome.wustl.edu	37	chr2	70485372	70485372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtgcagctgcggatgccccGagggcgccgagctgcgtgct	17	13	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:70485372G>A	ENST00000433351.2	+	1	104	c.76G>A	c.(76-78)Gag>Aag	p.E26K	PCYOX1_ENST00000545138.1_5'Flank|PCYOX1_ENST00000264441.5_Missense_Mutation_p.E26K|PCYOX1_ENST00000505044.2_Intron	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	26					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CGGATGCCCCGAGGGCGCCGA	0.726																																																	0													28	31	30					2																	70485372		2201	4295	6496	SO:0001583	missense	51449			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.76G>A	2.37:g.70485372G>A	ENSP00000387654:p.Glu26Lys		B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.E26K	ENST00000433351.2	37	c.76	CCDS1902.1	2	.	.	.	.	.	.	.	.	.	.	G	7.273	0.607506	0.14002	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.42131	2.57;0.98	4.62	4.62	0.57501	.	0.482899	0.21116	N	0.079894	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.07616	-1.0763	10	0.18710	T	0.47	-7.2546	12.871	0.57965	0.0:0.0:1.0:0.0	.	26;26	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	K	26	ENSP00000387654:E26K;ENSP00000264441:E26K	ENSP00000264441:E26K	E	+	1	0	PCYOX1	70338876	0.993000	0.37304	0.913000	0.36048	0.011000	0.07611	2.863000	0.48396	2.401000	0.81631	0.499000	0.49734	GAG	PCYOX1	-	pirsf_Prenylcysteine_Oxase		0.726	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	G	NM_016297		70485372	1	no_errors	ENST00000433351	ensembl	human	known	70_37	missense	SNP	0.710	A	A	70485372	G	A	70485372	3	1	164	1	0	0	0	0	1	0	0	0	11632	1059	37	1	78	1	PCYOX1	2	70485372	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	66	70485372	172714001	113	30901										
AUP1	27429	genome.wustl.edu	37	chr2	74756717	74756717	+	5'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggtctcttaccggtgcgagtCaaagagccgctccggccccg	13	15	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:74756717C>G	ENST00000258080.3	+	0	214				HTRA2_ENST00000352222.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.D14H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CGGTGCGAGTCAAAGAGCCGC	0.716																																																	0													12	19	17					2																	74756717		1823	4041	5864	SO:0001623	5_prime_UTR_variant	550				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.-417C>G	2.37:g.74756717C>G			Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	pfam_CUE,smart_CUE,pfscan_CUE	p.D14H	ENST00000258080.3	37	c.40	CCDS1951.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983817	0.74474	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.84	5.84	0.93424	.	0.112930	0.64402	D	0.000020	T	0.62889	0.2465	N	0.16903	0.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.971	T	0.66578	-0.5888	9	0.62326	D	0.03	-11.2155	15.6279	0.76878	0.0:1.0:0.0:0.0	.	14;14	B4DW71;Q9Y679-2	.;.	H	14	.	ENSP00000258081:D14H	D	-	1	0	AUP1	74610225	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.643000	0.54374	2.768000	0.95171	0.561000	0.74099	GAC	AUP1	-	NULL		0.716	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUP1	HGNC	protein_coding	OTTHUMT00000252219.2	C	NM_013247		74756717	-1	no_errors	ENST00000377526	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74756717	C	G	74756717	1	3	164	0	1	0	0	0	0	0	0	0	1221	826	29	1		1	AUP1	2	74756717	5'UTR	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4271345	74756717	168442656	114	30902										
C2orf3	6936	genome.wustl.edu	37	chr2	75891851	75891851	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgctctcctatgaaggattCtgcttgattcaaagctttta	7	8	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:75891851C>T	ENST00000321027.3	-	17	2420	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	GCFC2_ENST00000409857.3_Missense_Mutation_p.E725K|RP11-342K6.1_ENST00000604845.1_RNA|GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	763					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										ATGAAGGATTCTGCTTGATTC	0.279																																																	0													80	83	82					2																	75891851		2203	4300	6503	SO:0001583	missense	6936			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.2287G>A	2.37:g.75891851C>T	ENSP00000318690:p.Glu763Lys		A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	pfam_GCFC_dom	p.E763K	ENST00000321027.3	37	c.2287	CCDS1961.1	2	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428205	0.43122	.	.	ENSG00000005436	ENST00000321027;ENST00000409857;ENST00000427862	T;T;T	0.48522	2.38;2.4;0.81	4.71	2.91	0.33838	.	0.490245	0.20109	N	0.099047	T	0.37972	0.1023	M	0.63843	1.955	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.12400	-1.0549	10	0.07644	T	0.81	-14.5822	7.8933	0.29691	0.0:0.8022:0.0:0.1978	.	763	P16383	GCF_HUMAN	K	763;725;181	ENSP00000318690:E763K;ENSP00000386552:E725K;ENSP00000409340:E181K	ENSP00000318690:E763K	E	-	1	0	C2orf3	75745359	0.647000	0.27304	1.000000	0.80357	0.963000	0.63663	0.566000	0.23593	0.678000	0.31325	-0.444000	0.05651	GAA	GCFC2	-	NULL		0.279	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC2	HGNC	protein_coding	OTTHUMT00000252255.2	C	NM_003203		75891851	-1	no_errors	ENST00000321027	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75891851	C	T	75891851	3	4	164	1	0	0	0	0	1	0	0	0	2167	922	32	1	62	1	C2orf3	2	75891851	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1135134	75891851	167307522	115	30903										
MAT2A	4144	genome.wustl.edu	37	chr2	85770819	85770819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggatctgaagaagccaatttAtcagaggactgcagcctatg	11	8	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:85770819A>C	ENST00000306434.3	+	9	1235	c.1112A>C	c.(1111-1113)tAt>tCt	p.Y371S		NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	371					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAGCCAATTTATCAGAGGACT	0.393																																																	0													33	33	33					2																	85770819		2203	4300	6503	SO:0001583	missense	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.1112A>C	2.37:g.85770819A>C	ENSP00000303147:p.Tyr371Ser		A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.Y371S	ENST00000306434.3	37	c.1112	CCDS1977.1	2	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824757	0.50739	.	.	ENSG00000168906	ENST00000306434;ENST00000424323	D	0.98747	-5.11	5.5	5.5	0.81552	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97804	1.0246	10	0.87932	D	0	-8.8807	13.5734	0.61860	1.0:0.0:0.0:0.0	.	371	P31153	METK2_HUMAN	S	371;152	ENSP00000303147:Y371S	ENSP00000303147:Y371S	Y	+	2	0	MAT2A	85624330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	2.086000	0.62901	0.383000	0.25322	TAT	MAT2A	-	pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase		0.393	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2A	HGNC	protein_coding	OTTHUMT00000252491.2	A	NM_005911		85770819	1	no_errors	ENST00000306434	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85770819	A	C	85770819	3	2	164	1	0	0	0	0	1	0	0	0	9353	449	16	5	1146	5	MAT2A	2	85770819	Missense_Mutation	SNP	A	TCGA-JX-A3Q0-01A-11D-A21Q-09	9878968	85770819	157428554	116	30904										
PLGLB1	5342	genome.wustl.edu	37	chr2	88047697	88047697	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aacataaggaagtggttcttCtacttcttttatttctgaaa	6	6	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:88047697C>T	ENST00000359481.4	+	1	92	c.25C>T	c.(25-27)Cta>Tta	p.L9L		NM_002665.4	NP_002656.1	Q02325	PLGB_HUMAN	plasminogen-like B2	9						extracellular region (GO:0005576)											AGTGGTTCTTCTACTTCTTTT	0.368																																																	0													2	1	1					2																	88047697		784	1608	2392	SO:0001819	synonymous_variant	5342			M86871, M93143	CCDS1999.1	2p11.2	2013-09-24	2005-03-31	2005-03-31	ENSG00000125551	ENSG00000125551			9073	protein-coding gene	gene with protein product			"plasminogen pseudogene 1"	PLGP1		1986355	Standard	NM_002665		Approved		uc002ssd.3	Q02325	OTTHUMG00000153273	ENST00000359481.4:c.25C>T	2.37:g.88047697C>T			Q580R1	Silent	SNP	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app	p.L9	ENST00000359481.4	37	c.25	CCDS1999.1	2																																																																																			PLGLB2	-	NULL		0.368	PLGLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLGLB2	HGNC	protein_coding	OTTHUMT00000252605.2	C	NM_002665		88047697	1	no_errors	ENST00000359481	ensembl	human	known	70_37	silent	SNP	0.982	T	T	88047697	C	T	88047697	2	4	164	1	0	0	0	0	0	0	0	1	12111	912	32	1		1	PLGLB1	2	88047697	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2276878	88047697	155151676	117	30905										
ASTL	431705	genome.wustl.edu	37	chr2	96803369	96803369	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcctgggttccctcaggggtGaggccatctgggaagctggt	17	10	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:96803369G>C	ENST00000342380.2	-	2	125	c.126C>G	c.(124-126)ctC>ctG	p.L42L		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCAGGGGTGAGGCCATCTG	0.612																																																	0													122	108	113					2																	96803369		2203	4300	6503	SO:0001819	synonymous_variant	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.126C>G	2.37:g.96803369G>C				Silent	SNP	pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.L42	ENST00000342380.2	37	c.126	CCDS33249.1	2																																																																																			ASTL	-	NULL		0.612	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	HGNC	protein_coding	OTTHUMT00000338801.1	G			96803369	-1	no_errors	ENST00000342380	ensembl	human	known	70_37	silent	SNP	0.000	C	C	96803369	G	C	96803369	2	2	164	1	0	0	0	0	0	0	0	1	1064	1277	45	1		1	ASTL	2	96803369	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8755672	96803369	146396004	118	30906										
REV1	51455	genome.wustl.edu	37	chr2	100040681	100040681	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaaatcgtatggaacagcttGaagattaggacatagttgtt	10	4	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:100040681G>A	ENST00000258428.3	-	10	1837	c.1609C>T	c.(1609-1611)Caa>Taa	p.Q537*	REV1_ENST00000393445.3_Nonsense_Mutation_p.Q536*|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	537	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAACAGCTTGAAGATTAGGA	0.383								Direct reversal of damage																																									0													163	144	151					2																	100040681		2203	4300	6503	SO:0001587	stop_gained	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1609C>T	2.37:g.100040681G>A	ENSP00000258428:p.Gln537*		O95941|Q53SI7|Q9C0J4|Q9NUP2	Nonsense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.Q537*	ENST00000258428.3	37	c.1609	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.041047	0.98624	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	.	.	.	5.67	5.67	0.87782	.	0.180201	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9546	0.89064	0.0:0.0:1.0:0.0	.	.	.	.	X	536;537	.	ENSP00000258428:Q537X	Q	-	1	0	REV1	99407113	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.864000	0.87037	2.673000	0.90976	0.557000	0.71058	CAA	REV1	-	pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N		0.383	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	G	NM_016316		100040681	-1	no_errors	ENST00000258428	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	100040681	G	A	100040681	4	1	164	1	0	0	0	0	0	1	0	0	13269	1299	45	1	2202	1	REV1	2	100040681	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3237312	100040681	143158692	119	30907										
GCC2	9648	genome.wustl.edu	37	chr2	109109062	109109062	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagtcagagaacatgatgatGaaatctgaacatacacagac	8	8	2	6			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:109109062G>A	ENST00000309863.6	+	19	4977	c.4263G>A	c.(4261-4263)atG>atA	p.M1421I		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1421					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACATGATGATGAAATCTGAAC	0.398																																																	0													95	79	84					2																	109109062		2203	4300	6503	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4263G>A	2.37:g.109109062G>A	ENSP00000307939:p.Met1421Ile		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.M1421I	ENST00000309863.6	37	c.4263	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386980	0.42308	.	.	ENSG00000135968	ENST00000309863	T	0.31769	1.48	5.41	4.53	0.55603	.	0.675409	0.15934	N	0.237512	T	0.16938	0.0407	N	0.19112	0.55	0.36233	D	0.852788	B	0.17465	0.022	B	0.11329	0.006	T	0.14811	-1.0459	10	0.14656	T	0.56	.	6.6021	0.22707	0.0701:0.128:0.6694:0.1324	.	1421	Q8IWJ2	GCC2_HUMAN	I	1421	ENSP00000307939:M1421I	ENSP00000307939:M1421I	M	+	3	0	GCC2	108475494	1.000000	0.71417	0.990000	0.47175	0.940000	0.58332	2.832000	0.48152	1.415000	0.47037	0.655000	0.94253	ATG	GCC2	-	NULL		0.398	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	G	NM_014635		109109062	1	no_errors	ENST00000309863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109109062	G	A	109109062	3	1	164	1	0	0	0	0	1	0	0	0	6305	1290	45	1	4337	1	GCC2	2	109109062	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	9068381	109109062	134090311	120	30908										
IL1F6	27179	genome.wustl.edu	37	chr2	113763630	113763630	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gttcttcaggaccagacgctCatagcagtcccgaggaagga	12	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:113763630C>T	ENST00000259211.6	+	2	501	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	30					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						ACCAGACGCTCATAGCAGTCC	0.507																																																	0													74	78	77					2																	113763630		1997	4176	6173	SO:0001819	synonymous_variant	27179			AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"Interleukins and interleukin receptors"	15562	protein-coding gene	gene with protein product		605509	"interleukin 1 family, member 6 (epsilon)"	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.90C>T	2.37:g.113763630C>T			B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Silent	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_InterleukinIL1AB,prints_InterleukinIL1B	p.L30	ENST00000259211.6	37	c.90	CCDS42734.1	2																																																																																			IL36A	-	superfamily_Cytokine_IL1-like,smart_Interleukin_1		0.507	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL36A	HGNC	protein_coding	OTTHUMT00000330711.1	C	NM_014440		113763630	1	no_errors	ENST00000259211	ensembl	human	known	70_37	silent	SNP	0.004	T	T	113763630	C	T	113763630	2	4	164	1	0	0	0	0	0	0	0	1	7674	813	29	1		1	IL1F6	2	113763630	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4654568	113763630	129435743	121	30909										
THSD7B	80731	genome.wustl.edu	37	chr2	138414429	138414429	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attaacctgcattgatggaaGaagctttgagactgtgggcc	12	7	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:138414429G>A	ENST00000409968.1	+	23	4347	c.4169G>A	c.(4168-4170)aGa>aAa	p.R1390K	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1362K|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1393K|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1392	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTGATGGAAGAAGCTTTGAG	0.468																																																	0													68	70	69					2																	138414429		1930	4120	6050	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4169G>A	2.37:g.138414429G>A	ENSP00000387145:p.Arg1390Lys			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R1393K	ENST00000409968.1	37	c.4178		2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847938	0.91277	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.21932	2.5;2.39;1.98	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.04781	-1.0927	10	0.09084	T	0.74	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1362	C9JKN6	.	K	1390;1393;1362	ENSP00000387145:R1390K;ENSP00000272643:R1393K;ENSP00000413841:R1362K	ENSP00000272643:R1393K	R	+	2	0	THSD7B	138130899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.573000	0.82421	2.941000	0.99782	0.655000	0.94253	AGA	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9		138414429	1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138414429	G	A	138414429	3	1	164	1	0	0	0	0	1	0	0	0	15910	942	33	1	4167	1	THSD7B	2	138414429	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	24650799	138414429	104784944	122	30910										
RIF1	55183	genome.wustl.edu	37	chr2	152273185	152273185	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctaagcagacatttccctctGaagtggttggcaaaatggtg	11	8	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:152273185G>A	ENST00000243326.5	+	4	874	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	RIF1_ENST00000453091.2_Missense_Mutation_p.E131K|RIF1_ENST00000444746.2_Missense_Mutation_p.E131K|RIF1_ENST00000433166.2_Missense_Mutation_p.E131K|RIF1_ENST00000430328.2_Missense_Mutation_p.E131K|RIF1_ENST00000428287.2_Missense_Mutation_p.E131K			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTTCCCTCTGAAGTGGTTGG	0.338																																																	0													233	248	243					2																	152273185		2203	4300	6503	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.391G>A	2.37:g.152273185G>A	ENSP00000243326:p.Glu131Lys		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.E131K	ENST00000243326.5	37	c.391	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411718	0.62399	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;0.75;-0.38;-0.38	5.76	5.76	0.90799	Armadillo-type fold (1);	0.323056	0.38272	N	0.001755	T	0.80491	0.4633	M	0.71581	2.175	0.43355	D	0.995423	B;D	0.71674	0.145;0.998	B;D	0.65323	0.069;0.934	T	0.80039	-0.1549	10	0.52906	T	0.07	-9.8156	18.1155	0.89553	0.0:0.0:1.0:0.0	.	131;131	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	K	131	ENSP00000390181:E131K;ENSP00000414615:E131K;ENSP00000415691:E131K;ENSP00000396865:E131K;ENSP00000243326:E131K;ENSP00000416123:E131K	ENSP00000243326:E131K	E	+	1	0	RIF1	151981431	1.000000	0.71417	0.451000	0.26982	0.358000	0.29455	7.064000	0.76721	2.880000	0.98712	0.650000	0.86243	GAA	RIF1	-	superfamily_ARM-type_fold		0.338	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152273185	1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	0.998	A	A	152273185	G	A	152273185	3	1	164	1	0	0	0	0	1	0	0	0	13389	1291	45	1	405	1	RIF1	2	152273185	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	13858756	152273185	90926188	123	30911										
FIGN	55137	genome.wustl.edu	37	chr2	164468163	164468163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggttggatgcagtcagagcaGatatgtcatcattcgcccag	12	9	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:164468163G>A	ENST00000333129.3	-	3	493	c.179C>T	c.(178-180)tCt>tTt	p.S60F	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	60					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGTCAGAGCAGATATGTCATC	0.502																																																	0													142	138	139					2																	164468163		1988	4177	6165	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.179C>T	2.37:g.164468163G>A	ENSP00000333836:p.Ser60Phe		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.S60F	ENST00000333129.3	37	c.179	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122503	0.77436	.	.	ENSG00000182263	ENST00000333129	T	0.36520	1.25	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	T	0.64994	0.2649	M	0.77313	2.365	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.64846	-0.6311	10	0.87932	D	0	-29.6263	20.8794	0.99867	0.0:0.0:1.0:0.0	.	60	Q5HY92	FIGN_HUMAN	F	60	ENSP00000333836:S60F	ENSP00000333836:S60F	S	-	2	0	FIGN	164176409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCT	FIGN	-	NULL		0.502	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	G	NM_018086		164468163	-1	no_errors	ENST00000333129	ensembl	human	known	70_37	missense	SNP	1.000	A	A	164468163	G	A	164468163	3	1	164	1	0	0	0	0	1	0	0	0	5909	942	33	1	2104	1	FIGN	2	164468163	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	12194978	164468163	78731210	124	30912										
COBLL1	22837	genome.wustl.edu	37	chr2	165586569	165586569	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acagatcgattgtgtaacttGatggatttaagtgatactgt	10	4	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:165586569G>C	ENST00000392717.2	-	4	405	c.401C>G	c.(400-402)tCa>tGa	p.S134*	COBLL1_ENST00000194871.6_Nonsense_Mutation_p.S149*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.S96*|COBLL1_ENST00000375458.2_Nonsense_Mutation_p.S96*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.S134*|COBLL1_ENST00000491126.2_Intron			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	134						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGTGTAACTTGATGGATTTAA	0.348																																																	0													144	130	135					2																	165586569		2203	4300	6503	SO:0001587	stop_gained	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.401C>G	2.37:g.165586569G>C	ENSP00000376478:p.Ser134*		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Nonsense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.S149*	ENST00000392717.2	37	c.446		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.262517|5.262517	0.95399|0.95399	.|.	.|.	ENSG00000082438|ENSG00000082438	ENST00000452626|ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871;ENST00000456693;ENST00000448708;ENST00000439313;ENST00000444537;ENST00000414843	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.193996	.|0.46758	.|D	.|0.000266	T|.	0.82029|.	0.4948|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83606|.	0.0131|.	3|.	.|0.87932	.|D	.|0	-13.9508|-13.9508	19.8056|19.8056	0.96531|0.96531	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	98|96;96;134;134;149;71;96;103;118;96	.|.	.|ENSP00000194871:S149X	I|S	-|-	3|2	3|0	COBLL1|COBLL1	165294815|165294815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.756000|9.756000	0.98918|0.98918	2.688000|2.688000	0.91661|0.91661	0.650000|0.650000	0.86243|0.86243	ATC|TCA	COBLL1	-	pfam_Cordon-bleu_domain		0.348	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		G	NM_014900		165586569	-1	no_errors	ENST00000194871	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	165586569	G	C	165586569	4	2	164	1	0	0	0	0	0	1	0	0	3659	1294	45	1	3261	1	COBLL1	2	165586569	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1118406	165586569	77612804	125	30913										
SCN3A	6328	genome.wustl.edu	37	chr2	166027044	166027044	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaaattgcctttcctttattCattactataaaagtctgaaa	3	7	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:166027044C>T	ENST00000360093.3	-	4	770	c.279G>A	c.(277-279)atG>atA	p.M93I	SCN3A_ENST00000409101.3_Missense_Mutation_p.M93I|SCN3A_ENST00000283254.7_Missense_Mutation_p.M93I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	93					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCCTTTATTCATTACTATAA	0.303																																																	0													39	41	40					2																	166027044		2203	4292	6495	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.279G>A	2.37:g.166027044C>T	ENSP00000353206:p.Met93Ile		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.M93I	ENST00000360093.3	37	c.279		2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269242	0.40095	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;D	0.95377	-3.69;-3.69;-3.64;-3.52;-3.31	4.97	4.97	0.65823	.	0.289294	0.24907	N	0.034657	D	0.84593	0.5506	N	0.00325	-1.645	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.80074	-0.1534	10	0.51188	T	0.08	.	18.5973	0.91234	0.0:1.0:0.0:0.0	.	93;93;93	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	I	93	ENSP00000353206:M93I;ENSP00000283254:M93I;ENSP00000386726:M93I;ENSP00000403348:M93I;ENSP00000391569:M93I	ENSP00000283254:M93I	M	-	3	0	SCN3A	165735290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.019000	0.41001	2.443000	0.82685	0.650000	0.86243	ATG	SCN3A	-	NULL		0.303	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		C	NM_006922		166027044	-1	no_errors	ENST00000283254	ensembl	human	known	70_37	missense	SNP	1.000	T	T	166027044	C	T	166027044	3	4	164	1	0	0	0	0	1	0	0	0	13948	826	29	1	5919	1	SCN3A	2	166027044	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	440475	166027044	77172329	126	30914										
SCN1A	6323	genome.wustl.edu	37	chr2	166848682	166848682	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcaaagttgaacatgtcatcGatcccaacttccctcttaac	4	13	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:166848682G>C	ENST00000303395.4	-	26	5102	c.5103C>G	c.(5101-5103)atC>atG	p.I1701M	SCN1A_ENST00000375405.3_Missense_Mutation_p.I1690M|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1673M|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.I1701M			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1701					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			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					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATGTCATCGATCCCAACTT	0.463																																																	0													213	202	205					2																	166848682		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5103C>G	2.37:g.166848682G>C	ENSP00000303540:p.Ile1701Met		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.I1701M	ENST00000303395.4	37	c.5103	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835128	0.50951	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.52	-0.0874	0.13677	.	0.000000	0.64402	D	0.000006	D	0.98441	0.9481	M	0.75615	2.305	0.43218	D	0.995097	D	0.89917	1.0	D	0.85130	0.997	D	0.97007	0.9733	10	0.87932	D	0	.	5.3896	0.16237	0.5428:0.0:0.3291:0.1281	.	1690	P35498-2	.	M	1701;1701;1690;1673	ENSP00000407030:I1701M;ENSP00000303540:I1701M;ENSP00000364554:I1690M;ENSP00000386312:I1673M	ENSP00000303540:I1701M	I	-	3	3	SCN1A	166556928	0.975000	0.34042	1.000000	0.80357	0.989000	0.77384	0.280000	0.18790	0.404000	0.25506	-0.312000	0.09012	ATC	SCN1A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.463	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	G	NM_006920		166848682	-1	no_errors	ENST00000303395	ensembl	human	known	70_37	missense	SNP	1.000	C	C	166848682	G	C	166848682	3	2	164	1	0	0	0	0	1	0	0	0	13944	1048	37	1	930	1	SCN1A	2	166848682	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	821638	166848682	76350691	127	30915										
XIRP2	129446	genome.wustl.edu	37	chr2	168098385	168098385	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggaaaagatcctttattctGacaaagagatgacaacccca	7	9	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:168098385G>A	ENST00000409728.1	+	9	1329	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	XIRP2_ENST00000409605.1_Missense_Mutation_p.D159N|XIRP2_ENST00000409756.2_Missense_Mutation_p.D381N|XIRP2_ENST00000420519.1_Missense_Mutation_p.D414N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D159N|XIRP2_ENST00000409043.1_Missense_Mutation_p.D381N|XIRP2_ENST00000409195.1_Missense_Mutation_p.D381N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D381N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	206					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTTTATTCTGACAAAGAGAT	0.368																																																	0													122	116	118					2																	168098385		1833	4078	5911	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1240G>A	2.37:g.168098385G>A	ENSP00000386619:p.Asp414Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.D381N	ENST00000409728.1	37	c.1141	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943917	0.73672	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;4.03;-1.19;-1.19;4.03;4.07;-1.19	5.27	4.37	0.52481	.	0.292782	0.36815	N	0.002394	D	0.85039	0.5606	M	0.62723	1.935	0.30272	N	0.792178	P;D;D;P;P	0.71674	0.917;0.998;0.998;0.897;0.873	P;D;D;P;P	0.70487	0.529;0.957;0.969;0.675;0.599	T	0.83043	-0.0156	10	0.41790	T	0.15	-6.5178	14.4005	0.67041	0.0:0.1476:0.8524:0.0	.	206;381;414;206;159	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	N	381;414;381;381;414;381;159;159	ENSP00000386454:D381N;ENSP00000386619:D414N;ENSP00000386840:D381N;ENSP00000386724:D381N;ENSP00000415541:D414N;ENSP00000295237:D381N;ENSP00000387255:D159N;ENSP00000386981:D159N	ENSP00000295237:D381N	D	+	1	0	XIRP2	167806631	1.000000	0.71417	0.996000	0.52242	0.754000	0.42855	2.723000	0.47277	1.314000	0.45095	0.591000	0.81541	GAC	XIRP2	-	NULL		0.368	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168098385	1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	1.000	A	A	168098385	G	A	168098385	3	1	164	1	0	0	0	0	1	0	0	0	17461	1290	45	1	1167	1	XIRP2	2	168098385	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1249703	168098385	75100988	128	30916										
LRP2	4036	genome.wustl.edu	37	chr2	170127601	170127601	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcaacttgggatgaaaaaatGaggaaattctgaacagctgt	11	5	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:170127601G>A	ENST00000263816.3	-	16	2418	c.2133C>T	c.(2131-2133)ctC>ctT	p.L711L	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	711					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATGAAAAAATGAGGAAATTCT	0.448																																																	0													64	53	57					2																	170127601		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2133C>T	2.37:g.170127601G>A			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L711	ENST00000263816.3	37	c.2133	CCDS2232.1	2																																																																																			LRP2	-	NULL		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170127601	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	0.997	A	A	170127601	G	A	170127601	2	1	164	1	0	0	0	0	0	0	0	1	8979	1277	45	1		1	LRP2	2	170127601	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2029216	170127601	73071772	129	30917										
UBR3	130507	genome.wustl.edu	37	chr2	170863551	170863551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acaaaggagaattcacgtgtCcactctgtaggcagtttgct	10	9	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:170863551C>T	ENST00000272793.5	+	28	4131	c.4081C>T	c.(4081-4083)Cca>Tca	p.P1361S	UBR3_ENST00000392631.1_Missense_Mutation_p.P182S|UBR3_ENST00000418381.1_Missense_Mutation_p.P1361S			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1361					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTCACGTGTCCACTCTGTAG	0.418																																																	0													158	142	147					2																	170863551		2203	4300	6503	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4081C>T	2.37:g.170863551C>T	ENSP00000272793:p.Pro1361Ser		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.P1361S	ENST00000272793.5	37	c.4081		2	.	.	.	.	.	.	.	.	.	.	c	26.7	4.759634	0.89932	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	D;D;D;T	0.94576	-3.46;-3.46;-3.46;-1.33	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	M	0.88906	2.99	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.87578	0.994;0.998;0.979	D	0.98483	1.0606	10	0.87932	D	0	.	19.0814	0.93185	0.0:1.0:0.0:0.0	.	1361;182;1361	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	S	1361;1361;1361;182;32	ENSP00000272793:P1361S;ENSP00000396068:P1361S;ENSP00000376408:P182S;ENSP00000389097:P32S	ENSP00000272793:P1361S	P	+	1	0	UBR3	170571797	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.478000	0.81082	2.511000	0.84671	0.454000	0.30748	CCA	UBR3	-	NULL		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	C	NM_172070		170863551	1	no_errors	ENST00000272793	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170863551	C	T	170863551	3	4	164	1	0	0	0	0	1	0	0	0	16934	855	30	1	4191	1	UBR3	2	170863551	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	735950	170863551	72335822	130	30918										
RAPGEF4	11069	genome.wustl.edu	37	chr2	173881101	173881101	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttatgtatctgtatcagatGatgcccggatgattgctgcc	10	8	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:173881101G>A	ENST00000397081.3	+	19	1977	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D459N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D468N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.D611N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D612N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D392N|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D459N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D441N	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	612	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGTATCAGATGATGCCCGGAT	0.438																																																	0													116	115	116					2																	173881101		1889	4108	5997	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1834G>A	2.37:g.173881101G>A	ENSP00000380271:p.Asp612Asn		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.D612N	ENST00000397081.3	37	c.1834	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305989	0.81247	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	6.04	6.04	0.98038	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.092702	0.64402	D	0.000001	T	0.46171	0.1379	M	0.75615	2.305	0.80722	D	1	P;B	0.50528	0.936;0.002	P;B	0.48425	0.577;0.007	T	0.34054	-0.9844	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:0.0:1.0:0.0	.	468;612	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	N	611;612;612;468;441;459;459;392	ENSP00000264111:D611N;ENSP00000380271:D612N;ENSP00000387104:D612N;ENSP00000380276:D468N;ENSP00000440135:D441N;ENSP00000440250:D459N;ENSP00000437384:D459N;ENSP00000438011:D392N	ENSP00000264111:D611N	D	+	1	0	RAPGEF4	173589347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.873000	0.98535	0.561000	0.74099	GAT	RAPGEF4	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.438	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	G	NM_007023		173881101	1	no_errors	ENST00000397081	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173881101	G	A	173881101	3	1	164	1	0	0	0	0	1	0	0	0	13076	1290	45	1	1924	1	RAPGEF4	2	173881101	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3017550	173881101	69318272	131	30919										
HOXD3	3232	genome.wustl.edu	37	chr2	177033965	177033965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcaaaactacggacacttaCggctacagcaccccccacca	6	17	0	0	rs201012462		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:177033965C>T	ENST00000468418.3	+	3	2213	c.123C>T	c.(121-123)taC>taT	p.Y41Y	HOXD3_ENST00000249440.3_Silent_p.Y41Y|HOXD3_ENST00000410016.1_Silent_p.Y41Y			P31249	HXD3_HUMAN	homeobox D3	41					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGACACTTACGGCTACAGCA	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		14413	0		0	False		,,,				2504	0																0													113	111	112					2																	177033965		2203	4300	6503	SO:0001819	synonymous_variant	3232				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.123C>T	2.37:g.177033965C>T			Q99955|Q9BSC5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Y41	ENST00000468418.3	37	c.123	CCDS2270.1	2																																																																																			HOXD3	-	NULL		0.582	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD3	HGNC	protein_coding	OTTHUMT00000334246.4	C			177033965	1	no_errors	ENST00000249440	ensembl	human	known	70_37	silent	SNP	1.000	T	T	177033965	C	T	177033965	2	4	164	1	0	0	0	0	0	0	0	1	7343	547	19	2		2	HOXD3	2	177033965	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3152864	177033965	66165408	132	30920										
NFE2L2	4780	genome.wustl.edu	37	chr2	178098960	178098960	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttctcgacttactccaagatCtatatcttgcctccaaagta	4	12	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:178098960C>A	ENST00000397062.3	-	2	639	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)											66	59	61					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>T	2.37:g.178098960C>A	ENSP00000380252:p.Asp29Tyr		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D29Y	ENST00000397062.3	37	c.85	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014623	0.75161	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.72623	-0.4237	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Y	13;29;13;13;13;13;13	ENSP00000380253:D13Y;ENSP00000380252:D29Y;ENSP00000411575:D13Y;ENSP00000391590:D13Y;ENSP00000400073:D13Y;ENSP00000412191:D13Y;ENSP00000410015:D13Y	ENSP00000380252:D29Y	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT	NFE2L2	-	NULL		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098960	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178098960	C	A	178098960	3	1	164	1	0	0	0	0	1	0	0	0	10392	913	32	3	1748	3	NFE2L2	2	178098960	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1064995	178098960	65100413	133	30921										
TTN	7273	genome.wustl.edu	37	chr2	179507006	179507006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctttggttcaggtttacgttCcggaagtaatttgcgaactt	10	7	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:179507006C>T	ENST00000591111.1	-	169	35817	c.35593G>A	c.(35593-35595)Gaa>Aaa	p.E11865K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4441K|TTN_ENST00000359218.5_Missense_Mutation_p.E4566K|TTN_ENST00000589042.1_Missense_Mutation_p.E13506K|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10938K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4633K|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11865	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTACGTTCCGGAAGTAAT	0.313																																																	0													57	52	54					2																	179507006		1807	4068	5875	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35593G>A	2.37:g.179507006C>T	ENSP00000465570:p.Glu11865Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E10938K	ENST00000591111.1	37	c.32812		2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404712	0.62288	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.64438	-0.1;0.14;0.09;0.12	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64972	0.2647	L	0.46157	1.445	0.36550	D	0.871829	P;P;P;P;D	0.55385	0.598;0.598;0.598;0.598;0.971	B;B;B;B;P	0.47162	0.19;0.19;0.19;0.19;0.54	T	0.73805	-0.3867	9	0.87932	D	0	.	19.494	0.95064	0.0:1.0:0.0:0.0	.	4441;4566;4633;11865;10632	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	K	10938;4441;4633;4566;4441;827;165	ENSP00000343764:E10938K;ENSP00000434586:E4441K;ENSP00000340554:E4633K;ENSP00000352154:E4566K	ENSP00000340554:E4633K	E	-	1	0	TTN	179215251	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.066000	0.64351	2.610000	0.88304	0.591000	0.81541	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.313	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179507006	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179507006	C	T	179507006	3	4	164	1	0	0	0	0	1	0	0	0	16766	864	30	1	67753	1	TTN	2	179507006	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1408046	179507006	63692367	134	30922										
TTN	7273	genome.wustl.edu	37	chr2	179542513	179542513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcttcttcaggtagaacttCctcttcctcaggtagaactt	6	12	5	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:179542513C>T	ENST00000591111.1	-	144	33399	c.33175G>A	c.(33175-33177)Gaa>Aaa	p.E11059K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11376K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10132K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10194	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGAACTTCCTCTTCCTCA	0.438																																																	0													132	131	131					2																	179542513		1860	4087	5947	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33175G>A	2.37:g.179542513C>T	ENSP00000465570:p.Glu11059Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E10132K	ENST00000591111.1	37	c.30394		2	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080852	0.36758	.	.	ENSG00000155657	ENST00000342992	T	0.70045	-0.45	6.06	6.06	0.98353	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63674	0.2531	.	.	.	0.80722	D	1	P	0.44816	0.844	B	0.36666	0.23	T	0.68914	-0.5283	8	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	11059	Q8WZ42	TITIN_HUMAN	K	10132	ENSP00000343764:E10132K	ENSP00000343764:E10132K	E	-	1	0	TTN	179250758	0.939000	0.31865	0.411000	0.26484	0.289000	0.27227	3.450000	0.52957	2.882000	0.98803	0.655000	0.94253	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179542513	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.923	T	T	179542513	C	T	179542513	3	4	164	1	0	0	0	0	1	0	0	0	16766	864	30	1	70271	1	TTN	2	179542513	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	35507	179542513	63656860	135	30923										
COL3A1	1281	genome.wustl.edu	37	chr2	189862095	189862095	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agaatggtgaaactggacctCagggacccccagggcctact	12	12	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:189862095C>T	ENST00000304636.3	+	26	2019	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q617*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	617	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AACTGGACCTCAGGGACCCCC	0.423																																																	0													77	81	80					2																	189862095		2203	4300	6503	SO:0001587	stop_gained	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1849C>T	2.37:g.189862095C>T	ENSP00000304408:p.Gln617*		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q617*	ENST00000304636.3	37	c.1849	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.067971	0.98040	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	6.03	6.03	0.97812	.	0.149363	0.30850	N	0.008755	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	17.4456	0.87577	0.0:0.8761:0.1239:0.0	.	.	.	.	X	617	.	ENSP00000304408:Q617X	Q	+	1	0	COL3A1	189570340	0.001000	0.12720	1.000000	0.80357	0.882000	0.50991	0.723000	0.25939	2.868000	0.98415	0.555000	0.69702	CAG	COL3A1	-	NULL		0.423	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	C	NM_000090		189862095	1	no_errors	ENST00000304636	ensembl	human	known	70_37	nonsense	SNP	0.225	T	T	189862095	C	T	189862095	4	4	164	1	0	0	0	0	0	1	0	0	3693	827	29	1	1951	1	COL3A1	2	189862095	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10319582	189862095	53337278	136	30924										
MYO1B	4430	genome.wustl.edu	37	chr2	192246290	192246290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcaggaggagtatatacggGaggtaatgttgaaatgctat	14	3	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:192246290G>A	ENST00000392318.3	+	14	1535	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	MYO1B_ENST00000392316.1_Missense_Mutation_p.E430K|MYO1B_ENST00000339514.4_Missense_Mutation_p.E430K|MYO1B_ENST00000304164.4_Missense_Mutation_p.E430K|MYO1B_ENST00000496992.1_3'UTR	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	430	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTATATACGGGAGGTAATGTT	0.318																																																	0													65	65	65					2																	192246290		2203	4300	6503	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1288G>A	2.37:g.192246290G>A	ENSP00000376132:p.Glu430Lys		O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E430K	ENST00000392318.3	37	c.1288	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.734473	0.96865	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.89	5.89	0.94794	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.99;0.982	D	0.96336	0.9247	10	0.87932	D	0	.	20.2449	0.98397	0.0:0.0:1.0:0.0	.	430;430;430	B0I1S9;O43795;O43795-2	.;MYO1B_HUMAN;.	K	430	ENSP00000341903:E430K;ENSP00000376132:E430K;ENSP00000306382:E430K;ENSP00000376130:E430K	ENSP00000306382:E430K	E	+	1	0	MYO1B	191954535	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.794000	0.96219	0.637000	0.83480	GAG	MYO1B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.318	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	G	NM_012223		192246290	1	no_errors	ENST00000304164	ensembl	human	known	70_37	missense	SNP	1.000	A	A	192246290	G	A	192246290	3	1	164	1	0	0	0	0	1	0	0	0	10092	1175	41	1	1338	1	MYO1B	2	192246290	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2384195	192246290	50953083	137	30925										
CASP8	841	genome.wustl.edu	37	chr2	202150039	202150039	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcctgagagagcgatgtcctCggtaagttttgcctactcag	12	10	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:202150039C>T	ENST00000432109.2	+	9	1492	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Splice_Site_p.R452*|CASP8_ENST00000358485.4_Splice_Site_p.R494*|CASP8_ENST00000323492.7_Splice_Site_p.R420*|CASP8_ENST00000264274.9_Splice_Site_p.R351*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												3	Substitution - Nonsense(3)	endometrium(3)											86	77	80					2																	202150039		2203	4300	6503	SO:0001630	splice_region_variant	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1304+1C>T	2.37:g.202150039C>T			O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.R494*	ENST00000432109.2	37	c.1480	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.402692	0.96030	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	3.47	0.39725	.	0.583046	0.18288	N	0.145809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6272	0.28218	0.5048:0.4125:0.0:0.0826	.	.	.	.	X	420;351;435;452;494;420;214	.	ENSP00000264274:R351X	R	+	1	2	CASP8	201858284	0.102000	0.21896	0.991000	0.47740	0.792000	0.44763	0.396000	0.20867	0.538000	0.28769	0.561000	0.74099	CGA	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10		0.502	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228	Nonsense_Mutation	202150039	1	no_errors	ENST00000358485	ensembl	human	known	70_37	nonsense	SNP	0.956	T	T	202150039	C	T	202150039	5	4	164	1	0	0	0	0	0	0	1	0	2682	898	31	1	1610	1	CASP8	2	202150039	Splice_Site	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	9903749	202150039	41049334	138	30926										
ALS2	57679	genome.wustl.edu	37	chr2	202622381	202622381	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcataagtagcagccactctCacaccaacagcagatgcaca	6	14	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:202622381C>T	ENST00000264276.6	-	5	1587	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	405					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CAGCCACTCTCACACCAACAG	0.483																																																	0													67	68	68					2																	202622381		1990	4187	6177	SO:0001819	synonymous_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1215G>A	2.37:g.202622381C>T			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.V405	ENST00000264276.6	37	c.1215	CCDS42800.1	2																																																																																			ALS2	-	NULL		0.483	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	C	NM_020919		202622381	-1	no_errors	ENST00000264276	ensembl	human	known	70_37	silent	SNP	1.000	T	T	202622381	C	T	202622381	2	4	164	1	0	0	0	0	0	0	0	1	550	813	29	1		1	ALS2	2	202622381	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	472342	202622381	40576992	139	30927										
ADAM23	8745	genome.wustl.edu	37	chr2	207413014	207413014	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctttctgcagctatggaaaGaggtgaccagtggccctttc	11	11	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:207413014G>T	ENST00000264377.3	+	8	1131	c.803G>T	c.(802-804)aGa>aTa	p.R268I	ADAM23_ENST00000374416.1_Missense_Mutation_p.R268I|ADAM23_ENST00000374415.3_Missense_Mutation_p.R268I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	268					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GCTATGGAAAGAGGTGACCAG	0.388																																					Melanoma(194;1127 2130 19620 24042 27855)												0													123	122	123					2																	207413014		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.803G>T	2.37:g.207413014G>T	ENSP00000264377:p.Arg268Ile		A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R268I	ENST00000264377.3	37	c.803	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948390	0.18356	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.01902	4.58;4.58;4.57	4.92	1.67	0.24075	.	2.080000	0.02380	N	0.078699	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44097	-0.9350	10	0.37606	T	0.19	.	0.8262	0.01121	0.2216:0.1846:0.4029:0.1909	.	268	O75077	ADA23_HUMAN	I	268;268;162;268	ENSP00000264377:R268I;ENSP00000363537:R268I;ENSP00000363536:R268I	ENSP00000264377:R268I	R	+	2	0	ADAM23	207121259	0.001000	0.12720	0.048000	0.18961	0.032000	0.12392	0.376000	0.20535	1.048000	0.40298	0.563000	0.77884	AGA	ADAM23	-	NULL		0.388	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	G	NM_003812		207413014	1	no_errors	ENST00000264377	ensembl	human	known	70_37	missense	SNP	0.000	T	T	207413014	G	T	207413014	3	4	164	1	0	0	0	0	1	0	0	0	245	942	33	3	833	3	ADAM23	2	207413014	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4790633	207413014	35786359	140	30928										
ABCA12	26154	genome.wustl.edu	37	chr2	215802306	215802306	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atggtcactttgttattcttCaagtgaactttgacagtaaa	7	6	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:215802306C>T	ENST00000272895.7	-	51	7689	c.7470G>A	c.(7468-7470)ttG>ttA	p.L2490L	ABCA12_ENST00000389661.4_Silent_p.L2172L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2490					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTATTCTTCAAGTGAACTT	0.383																																					Ovarian(66;664 1488 5121 34295)												0													149	135	140					2																	215802306		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7470G>A	2.37:g.215802306C>T			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2490	ENST00000272895.7	37	c.7470	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215802306	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	1.000	T	T	215802306	C	T	215802306	2	4	164	1	0	0	0	0	0	0	0	1	30	825	29	1		1	ABCA12	2	215802306	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8389292	215802306	27397067	141	30929										
PTPRN	5798	genome.wustl.edu	37	chr2	220172265	220172265	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccccactcccacctggcactGcccaaacaagccatctaagg	6	19	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:220172265G>A	ENST00000295718.2	-	3	421	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q61*	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	61					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ACCTGGCACTGCCCAAACAAG	0.557																																																	0													53	54	53					2																	220172265		2203	4300	6503	SO:0001587	stop_gained	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.181C>T	2.37:g.220172265G>A	ENSP00000295718:p.Gln61*		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Q61*	ENST00000295718.2	37	c.181	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.068072	0.93950	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552	.	.	.	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	15.3985	0.74816	0.0:0.0:1.0:0.0	.	.	.	.	X	61;61;61;61;28	.	ENSP00000295718:Q61X	Q	-	1	0	PTPRN	219880509	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.229000	0.72294	2.359000	0.80004	0.460000	0.39030	CAG	PTPRN	-	NULL		0.557	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	G			220172265	-1	no_errors	ENST00000295718	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	220172265	G	A	220172265	4	1	164	1	0	0	0	0	0	1	0	0	12837	1328	46	4	2842	4	PTPRN	2	220172265	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4369959	220172265	23027108	142	30930										
KIAA1486	57624	genome.wustl.edu	37	chr2	226378118	226378118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagtagggcgaggccacgaaGgaagttacgtgggcaaacat	15	7	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:226378118G>A	ENST00000272907.6	+	3	666	c.253G>A	c.(253-255)Gga>Aga	p.G85R	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	85					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.G85*(1)									AGGCCACGAAGGAAGTTACGT	0.478																																																	1	Substitution - Nonsense(1)	large_intestine(1)											74	76	75					2																	226378118		2010	4172	6182	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.253G>A	2.37:g.226378118G>A	ENSP00000272907:p.Gly85Arg		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.G85R	ENST00000272907.6	37	c.253	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740035	0.89573	.	.	ENSG00000144460	ENST00000272907	T	0.32515	1.45	5.41	5.41	0.78517	.	0.332930	0.27773	N	0.017914	T	0.46112	0.1376	L	0.56769	1.78	0.80722	D	1	P	0.50369	0.934	P	0.51999	0.687	T	0.38585	-0.9654	10	0.54805	T	0.06	-6.6425	19.1985	0.93699	0.0:0.0:1.0:0.0	.	85	Q9P242	K1486_HUMAN	R	85	ENSP00000272907:G85R	ENSP00000272907:G85R	G	+	1	0	KIAA1486	226086362	1.000000	0.71417	0.476000	0.27291	0.953000	0.61014	3.508000	0.53378	2.532000	0.85374	0.563000	0.77884	GGA	NYAP2	-	NULL		0.478	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	G	NM_020864		226378118	1	no_errors	ENST00000272907	ensembl	human	known	70_37	missense	SNP	1.000	A	A	226378118	G	A	226378118	3	1	164	1	0	0	0	0	1	0	0	0	8257	1001	35	4	259	4	KIAA1486	2	226378118	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6205853	226378118	16821255	143	30931										
MLPH	79083	genome.wustl.edu	37	chr2	238434401	238434401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgccctggctgagctctgccCgcctggaggctcccacagga	13	17	1	1	rs139390935	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:238434401C>T	ENST00000264605.3	+	7	1127	c.833C>T	c.(832-834)cCg>cTg	p.P278L	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.P278L|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000409373.1_Missense_Mutation_p.P238L|MLPH_ENST00000445024.2_Missense_Mutation_p.P278L	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	278					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GAGCTCTGCCCGCCTGGAGGC	0.672													C|||	4	0.000798722	0	0	5008	,	,		17247	0		0	False		,,,				2504	0.0041																0								C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	37	39	38		833,833	-3.7	0	2	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MLPH	NM_001042467.1,NM_024101.5	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	278/573,278/601	238434401	1,13005	2203	4300	6503	SO:0001583	missense	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.833C>T	2.37:g.238434401C>T	ENSP00000264605:p.Pro278Leu		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.P278L	ENST00000264605.3	37	c.833	CCDS2518.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.366|3.366	-0.129388|-0.129388	0.06753|0.06753	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115648|ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373|ENST00000437893;ENST00000436965	T;T;T;T|T	0.21932|0.31247	2.31;2.29;2.21;1.98|1.5	3.35|3.35	-3.74|-3.74	0.04385|0.04385	.|.	2.107420|.	0.02170|.	N|.	0.059562|.	T|T	0.09024|0.09024	0.0223|0.0223	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.09022|.	0.002;0.002;0.001;0.002;0.002;0.001|.	B;B;B;B;B;B|.	0.06405|.	0.001;0.001;0.0;0.002;0.001;0.0|.	T|T	0.37776|0.37776	-0.9691|-0.9691	10|6	0.06891|.	T|.	0.86|.	-0.4526|-0.4526	9.5081|9.5081	0.39060|0.39060	0.0:0.6203:0.0:0.3797|0.0:0.6203:0.0:0.3797	.|.	278;162;278;238;278;278|.	B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36|.	.;.;.;.;.;MELPH_HUMAN|.	L|C	278;278;278;238|85;11	ENSP00000264605:P278L;ENSP00000414849:P278L;ENSP00000341845:P278L;ENSP00000386780:P238L|ENSP00000412438:R85C	ENSP00000264605:P278L|.	P|R	+|+	2|1	0|0	MLPH|MLPH	238099140|238099140	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.083000|0.083000	0.17756|0.17756	-2.080000|-2.080000	0.01368|0.01368	-0.855000|-0.855000	0.04125|0.04125	-1.423000|-1.423000	0.01107|0.01107	CCG|CGC	MLPH	-	NULL		0.672	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	C	NM_024101		238434401	1	no_errors	ENST00000264605	ensembl	human	known	70_37	missense	SNP	0.000	T	T	238434401	C	T	238434401	3	4	164	1	0	0	0	0	1	0	0	0	9656	652	23	2	855	2	MLPH	2	238434401	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	12056283	238434401	4764972	144	30932										
PER2	8864	genome.wustl.edu	37	chr2	239161691	239161691	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcctccagctgcagcaggttGagctgcaggggcgagctgct	15	12	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:239161691G>A	ENST00000254657.3	-	19	3252	c.2973C>T	c.(2971-2973)ctC>ctT	p.L991L	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	991	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCAGCAGGTTGAGCTGCAGGG	0.672																																																	0													34	38	37					2																	239161691		2203	4300	6503	SO:0001819	synonymous_variant	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2973C>T	2.37:g.239161691G>A			A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.L991	ENST00000254657.3	37	c.2973	CCDS2528.1	2																																																																																			PER2	-	NULL		0.672	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	G	NM_022817		239161691	-1	no_errors	ENST00000254657	ensembl	human	known	70_37	silent	SNP	1.000	A	A	239161691	G	A	239161691	2	1	164	1	0	0	0	0	0	0	0	1	11754	1277	45	1		1	PER2	2	239161691	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	727290	239161691	4037682	145	30933										
SNED1	25992	genome.wustl.edu	37	chr2	242007304	242007304	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtgtgtccatccgccaccctGaggccctcagggaccaggcc	12	17	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:242007304G>A	ENST00000310397.8	+	22	3136	c.3136G>A	c.(3136-3138)Gag>Aag	p.E1046K	SNED1_ENST00000401884.1_Missense_Mutation_p.E1046K|SNED1_ENST00000342631.6_Missense_Mutation_p.E1046K|SNED1_ENST00000405547.3_Missense_Mutation_p.E1046K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1046	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCGCCACCCTGAGGCCCTCAG	0.627																																																	0													38	43	42					2																	242007304		2080	4203	6283	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.3136G>A	2.37:g.242007304G>A	ENSP00000308893:p.Glu1046Lys		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.E1046K	ENST00000310397.8	37	c.3136	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467439	0.63625	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.92	3.1	0.35709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.117011	0.37483	N	0.002072	T	0.39937	0.1097	L	0.27053	0.805	0.28185	N	0.92801	P;B;P	0.45428	0.828;0.006;0.858	B;B;B	0.42882	0.371;0.017;0.401	T	0.29336	-1.0015	10	0.59425	D	0.04	.	9.6345	0.39800	0.1639:0.0:0.8361:0.0	.	1046;1046;1046	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	K	1046	ENSP00000384871:E1046K;ENSP00000386007:E1046K;ENSP00000308893:E1046K;ENSP00000342992:E1046K	ENSP00000308893:E1046K	E	+	1	0	SNED1	241655977	1.000000	0.71417	0.106000	0.21319	0.796000	0.44982	3.477000	0.53151	0.484000	0.27630	0.491000	0.48974	GAG	SNED1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.627	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	G	XM_059482		242007304	1	no_errors	ENST00000310397	ensembl	human	known	70_37	missense	SNP	0.882	A	A	242007304	G	A	242007304	3	1	164	1	0	0	0	0	1	0	0	0	14875	1291	45	1	3222	1	SNED1	2	242007304	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2845613	242007304	1192069	146	30934										
ITPR1	3708	genome.wustl.edu	37	chr3	4776957	4776957	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctagttatcgacctcatcatGaacgcatccagtgaccgagt	8	12	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:4776957G>A	ENST00000443694.2	+	41	5418	c.5418G>A	c.(5416-5418)atG>atA	p.M1806I	ITPR1_ENST00000302640.8_Missense_Mutation_p.M1806I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M1773I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.M1758I|ITPR1_ENST00000423119.2_Missense_Mutation_p.M1773I|ITPR1_ENST00000354582.6_Missense_Mutation_p.M1806I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1821					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACCTCATCATGAACGCATCCA	0.547																																																	0													130	129	129					3																	4776957		2058	4211	6269	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5418G>A	3.37:g.4776957G>A	ENSP00000401671:p.Met1806Ile		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M1806I	ENST00000443694.2	37	c.5418	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872465	0.33069	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.09	5.09	0.68999	.	0.078087	0.85682	D	0.000000	D	0.82421	0.5033	L	0.33245	0.995	0.80722	D	1	B;B	0.24823	0.001;0.112	B;B	0.28232	0.001;0.087	T	0.77164	-0.2688	10	0.19147	T	0.46	.	18.9273	0.92550	0.0:0.0:1.0:0.0	.	1821;1773	Q14643;G5E9P1	ITPR1_HUMAN;.	I	1821;1806;1806;1773;267;1773;1758;1806	ENSP00000306253:M1806I;ENSP00000346595:M1806I;ENSP00000405934:M1773I;ENSP00000349597:M1773I;ENSP00000397885:M1758I;ENSP00000401671:M1806I	ENSP00000306253:M1806I	M	+	3	0	ITPR1	4751957	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.334000	0.96470	2.541000	0.85698	0.585000	0.79938	ATG	ITPR1	-	NULL		0.547	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4776957	1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4776957	G	A	4776957	3	1	164	1	0	0	0	0	1	0	0	0	7940	1290	45	1	5629	1	ITPR1	3	4776957	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		4776957	193245473	147	30935										
ITPR1	3708	genome.wustl.edu	37	chr3	4887837	4887837	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttccagatgacagaacaaagGaagcagaaacaaagaattgg	10	6	0	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:4887837G>C	ENST00000443694.2	+	59	8160	c.8160G>C	c.(8158-8160)agG>agC	p.R2720S	AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R2720S|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2687S|ITPR1_ENST00000544951.1_Missense_Mutation_p.R698S|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2672S|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2687S|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2720S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2735					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CAGAACAAAGGAAGCAGAAAC	0.383																																																	0													83	79	80					3																	4887837		1883	4091	5974	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.8160G>C	3.37:g.4887837G>C	ENSP00000401671:p.Arg2720Ser		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2720S	ENST00000443694.2	37	c.8160	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878017	0.72294	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.94330	-3.38;-3.39;-3.4;-3.4;-3.39;-1.66;-3.38	6.05	6.05	0.98169	.	0.046498	0.85682	D	0.000000	D	0.96288	0.8789	L	0.61218	1.895	0.50313	D	0.999867	D;P;D	0.71674	0.998;0.856;0.99	D;B;P	0.70935	0.971;0.219;0.856	D	0.95971	0.8970	10	0.87932	D	0	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	698;2735;2687	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	S	2735;2720;2720;2687;1181;2687;2672;698;2720	ENSP00000306253:R2720S;ENSP00000346595:R2720S;ENSP00000405934:R2687S;ENSP00000349597:R2687S;ENSP00000397885:R2672S;ENSP00000440564:R698S;ENSP00000401671:R2720S	ENSP00000306253:R2720S	R	+	3	2	ITPR1	4862837	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.033000	0.64146	2.878000	0.98634	0.650000	0.86243	AGG	ITPR1	-	NULL		0.383	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4887837	1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4887837	G	C	4887837	3	2	164	1	0	0	0	0	1	0	0	0	7940	1165	41	1	8443	1	ITPR1	3	4887837	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	110880	4887837	193134593	148	30936										
SETD5	55209	genome.wustl.edu	37	chr3	9515167	9515167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcggtaagcccatcagattCcagaggcacttcttcatctc	9	13	4	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:9515167C>T	ENST00000406341.1	+	19	3633	c.3443C>T	c.(3442-3444)tCc>tTc	p.S1148F	SETD5_ENST00000302463.6_Missense_Mutation_p.S1050F|SETD5_ENST00000402466.1_Missense_Mutation_p.S1050F|SETD5_ENST00000407969.1_Missense_Mutation_p.S1167F|SETD5_ENST00000402198.1_Missense_Mutation_p.S1148F			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1148	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCATCAGATTCCAGAGGCACT	0.473																																																	0													66	63	64					3																	9515167		1894	4127	6021	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3443C>T	3.37:g.9515167C>T	ENSP00000383939:p.Ser1148Phe		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.S1148F	ENST00000406341.1	37	c.3443	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666746	0.67814	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92348	-2.69;-3.02;-2.69;-2.69;-3.02	6.07	5.19	0.71726	.	0.325285	0.31092	N	0.008266	D	0.86581	0.5967	N	0.14661	0.345	0.34115	D	0.663429	P;P;P	0.49783	0.928;0.846;0.553	P;B;B	0.44860	0.462;0.295;0.11	D	0.90678	0.4603	10	0.56958	D	0.05	-11.2614	14.8137	0.70013	0.0:0.9317:0.0:0.0683	.	817;1050;1148	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	F	1148;1050;1148;1167;1050	ENSP00000385852:S1148F;ENSP00000384429:S1050F;ENSP00000383939:S1148F;ENSP00000384114:S1167F;ENSP00000302028:S1050F	ENSP00000302028:S1050F	S	+	2	0	SETD5	9490167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.501000	0.53325	2.890000	0.99128	0.585000	0.79938	TCC	SETD5	-	NULL		0.473	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	C	XM_371614		9515167	1	no_errors	ENST00000402198	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9515167	C	T	9515167	3	4	164	1	0	0	0	0	1	0	0	0	14164	855	30	1	3513	1	SETD5	3	9515167	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4627330	9515167	188507263	149	30937										
TADA3	10474	genome.wustl.edu	37	chr3	9825714	9825714	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	catcctgctaacgctcacctCagcaggtcgtgcttcttggt	9	14	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:9825714C>T	ENST00000301964.2	-	8	1662	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	TADA3_ENST00000343450.2_Silent_p.L368L|TADA3_ENST00000440161.1_Silent_p.L368L	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	368					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						ACGCTCACCTCAGCAGGTCGT	0.587																																																	0													68	50	56					3																	9825714		2203	4300	6503	SO:0001819	synonymous_variant	10474			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1104G>A	3.37:g.9825714C>T			Q6FI83|Q9UFS2	Silent	SNP	pfam_Histone_AcTrfase_su3	p.L368	ENST00000301964.2	37	c.1104	CCDS2583.1	3																																																																																			TADA3	-	pfam_Histone_AcTrfase_su3		0.587	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	HGNC	protein_coding	OTTHUMT00000250236.1	C			9825714	-1	no_errors	ENST00000301964	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9825714	C	T	9825714	2	4	164	1	0	0	0	0	0	0	0	1	15542	813	29	1		1	TADA3	3	9825714	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	310547	9825714	188196716	150	30938										
SATB1	6304	genome.wustl.edu	37	chr3	18427918	18427918	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggacggctgggtggtgtgctGatgaggggggcaggacccat	21	7	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:18427918G>C	ENST00000338745.6	-	8	3126	c.1392C>G	c.(1390-1392)atC>atG	p.I464M	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.I464M|SATB1_ENST00000454909.2_Missense_Mutation_p.I464M	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	464					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTGGTGTGCTGATGAGGGGGG	0.507																																																	0													158	169	165					3																	18427918		2203	4300	6503	SO:0001583	missense	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1392C>G	3.37:g.18427918G>C	ENSP00000341024:p.Ile464Met		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.I464M	ENST00000338745.6	37	c.1392	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	T	4.624	0.116072	0.08831	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.48201	0.82;0.82;0.82	6.17	0.897	0.19258	.	0.129075	0.64402	D	0.000001	T	0.44644	0.1303	N	0.19112	0.55	0.80722	D	1	D;P	0.64830	0.994;0.894	D;P	0.64877	0.93;0.454	T	0.28332	-1.0047	10	0.45353	T	0.12	-10.4875	7.1104	0.25386	0.0:0.125:0.3518:0.5232	.	464;464	Q01826-2;Q01826	.;SATB1_HUMAN	M	464	ENSP00000341024:I464M;ENSP00000399708:I464M;ENSP00000399518:I464M	ENSP00000341024:I464M	I	-	3	3	SATB1	18402922	1.000000	0.71417	0.998000	0.56505	0.355000	0.29361	0.508000	0.22692	-0.024000	0.13941	-1.131000	0.01979	ATC	SATB1	-	NULL		0.507	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	G	NM_001131010		18427918	-1	no_errors	ENST00000338745	ensembl	human	known	70_37	missense	SNP	0.993	C	C	18427918	G	C	18427918	3	2	164	1	0	0	0	0	1	0	0	0	13883	1280	45	1	915	1	SATB1	3	18427918	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8602204	18427918	179594512	151	30939										
ITGA9	3680	genome.wustl.edu	37	chr3	37785523	37785523	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcccatcaatatcacccttCaggtacccactcctggagac	6	16	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:37785523C>T	ENST00000264741.5	+	22	2687	c.2431C>T	c.(2431-2433)Cag>Tag	p.Q811*	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	811					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TATCACCCTTCAGGTACCCAC	0.547																																																	0													126	102	110					3																	37785523		2203	4300	6503	SO:0001587	stop_gained	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2431C>T	3.37:g.37785523C>T	ENSP00000264741:p.Gln811*		Q14638	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q811*	ENST00000264741.5	37	c.2431	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	C	43	9.837838	0.99276	.	.	ENSG00000144668	ENST00000264741	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	18.5829	0.91178	0.0:1.0:0.0:0.0	.	.	.	.	X	811	.	ENSP00000264741:Q811X	Q	+	1	0	ITGA9	37760527	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	5.900000	0.69853	2.745000	0.94114	0.655000	0.94253	CAG	ITGA9	-	pfam_Integrin_alpha-2		0.547	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	C	NM_002207		37785523	1	no_errors	ENST00000264741	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	37785523	C	T	37785523	4	4	164	1	0	0	0	0	0	1	0	0	7903	827	29	1	2517	1	ITGA9	3	37785523	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	19357605	37785523	160236907	152	30940										
SCN5A	6331	genome.wustl.edu	37	chr3	38645227	38645227	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctggcgggtgctctagcatCacagggcggaggaggtggct	18	9	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:38645227C>T	ENST00000333535.4	-	12	2015	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	SCN5A_ENST00000413689.1_Silent_p.V622V|SCN5A_ENST00000443581.1_Silent_p.V622V|SCN5A_ENST00000449557.2_Silent_p.V622V|SCN5A_ENST00000451551.2_Silent_p.V622V|SCN5A_ENST00000450102.2_Silent_p.V622V|SCN5A_ENST00000423572.2_Silent_p.V622V|SCN5A_ENST00000414099.2_Silent_p.V622V|SCN5A_ENST00000455624.2_Silent_p.V622V|SCN5A_ENST00000425664.1_Silent_p.V622V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	622					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCTAGCATCACAGGGCGGA	0.597																																																	0													27	30	29					3																	38645227		2050	4207	6257	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1866G>A	3.37:g.38645227C>T			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.V622	ENST00000333535.4	37	c.1866	CCDS46796.1	3																																																																																			SCN5A	-	pfam_DUF3451		0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38645227	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	silent	SNP	0.811	T	T	38645227	C	T	38645227	2	4	164	1	0	0	0	0	0	0	0	1	13952	813	29	1		1	SCN5A	3	38645227	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	859704	38645227	159377203	153	30941										
CCR8	1237	genome.wustl.edu	37	chr3	39374122	39374122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tatctgctggaccagtgggtGtttgggactgtaatgtgcaa	14	6	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:39374122G>A	ENST00000326306.4	+	2	438	c.300G>A	c.(298-300)gtG>gtA	p.V100V	CCR8_ENST00000414803.1_Missense_Mutation_p.V43I|CCR8_ENST00000545843.1_Silent_p.V17V	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	100					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ACCAGTGGGTGTTTGGGACTG	0.483																																																	0													257	231	240					3																	39374122		2203	4300	6503	SO:0001819	synonymous_variant	1237			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.300G>A	3.37:g.39374122G>A			B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	NULL	p.V43I	ENST00000326306.4	37	c.127	CCDS2684.1	3	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365904	0.24684	.	.	ENSG00000179934	ENST00000414803	T	0.17370	2.28	4.82	0.819	0.18785	.	0.451624	0.21746	N	0.069759	T	0.15652	0.0377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11991	-1.0565	7	0.40728	T	0.16	.	1.0947	0.01671	0.3682:0.1567:0.3306:0.1445	.	.	.	.	I	43	ENSP00000390104:V43I	ENSP00000390104:V43I	V	+	1	0	CCR8	39349126	0.979000	0.34478	1.000000	0.80357	0.978000	0.69477	0.293000	0.19029	0.259000	0.21709	0.563000	0.77884	GTT	CCR8	-	NULL		0.483	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR8	HGNC	protein_coding	OTTHUMT00000254058.2	G	NM_005201		39374122	1	no_errors	ENST00000414803	ensembl	human	putative	70_37	missense	SNP	0.969	A	A	39374122	G	A	39374122	2	1	164	1	0	0	0	0	0	0	0	1	2952	1364	48	4		4	CCR8	3	39374122	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	728895	39374122	158648308	154	30942										
RPL14	9045	genome.wustl.edu	37	chr3	40503459	40503459	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ataatcaagaatgaagttaaGaagcttcaaaaggcagctct	8	6	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:40503459G>A	ENST00000396203.2	+	6	516	c.384G>A	c.(382-384)aaG>aaA	p.K128K	RPL14_ENST00000416518.1_3'UTR|RPL14_ENST00000338970.6_Silent_p.K128K	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	128					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATGAAGTTAAGAAGCTTCAAA	0.388																																																	0													24	27	26					3																	40503459		2176	4234	6410	SO:0001819	synonymous_variant	9045			D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"L ribosomal proteins"	10305	protein-coding gene	gene with protein product	"CAG-ISL 7", "60S ribosomal protein L14"					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.384G>A	3.37:g.40503459G>A			Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	Silent	SNP	pfam_Ribosomal_L14	p.K128	ENST00000396203.2	37	c.384	CCDS43070.1	3																																																																																			RPL14	-	NULL		0.388	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL14	HGNC	protein_coding	OTTHUMT00000342889.2	G	NM_003973		40503459	1	no_errors	ENST00000338970	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40503459	G	A	40503459	2	1	164	1	0	0	0	0	0	0	0	1	13591	933	33	1		1	RPL14	3	40503459	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1129337	40503459	157518971	155	30943										
NKTR	4820	genome.wustl.edu	37	chr3	42662975	42662975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccttttatcaatggcaaatcGagggaaacataccaatggtt	8	8	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:42662975G>A	ENST00000232978.8	+	6	529	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	114	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATGGCAAATCGAGGGAAACAT	0.363																																																	0													76	73	74					3																	42662975		2203	4299	6502	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.341G>A	3.37:g.42662975G>A	ENSP00000232978:p.Arg114Gln			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R114Q	ENST00000232978.8	37	c.341	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448436	0.84101	.	.	ENSG00000114857	ENST00000232978	T	0.21932	1.98	5.11	5.11	0.69529	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.48007	-0.9072	10	0.87932	D	0	-5.4631	18.8785	0.92347	0.0:0.0:1.0:0.0	.	114	P30414	NKTR_HUMAN	Q	114	ENSP00000232978:R114Q	ENSP00000232978:R114Q	R	+	2	0	NKTR	42637979	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.535000	0.85469	0.557000	0.71058	CGA	NKTR	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.363	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42662975	1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42662975	G	A	42662975	3	1	164	1	0	0	0	0	1	0	0	0	10472	1058	37	1	359	1	NKTR	3	42662975	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2159516	42662975	155359455	156	30944										
ZNF197	10168	genome.wustl.edu	37	chr3	44685487	44685487	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagagaattcacacaggggaGaaaccctatgggtgtaatga	12	7	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:44685487G>A	ENST00000396058.1	+	5	3032	c.2865G>A	c.(2863-2865)gaG>gaA	p.E955E	ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Silent_p.E955E			O14709	ZN197_HUMAN	zinc finger protein 197	955					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ACACAGGGGAGAAACCCTATG	0.388																																																	0													64	70	68					3																	44685487		2203	4300	6503	SO:0001819	synonymous_variant	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2865G>A	3.37:g.44685487G>A			B2RAH8|Q86VG0	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E955	ENST00000396058.1	37	c.2865	CCDS2717.1	3																																																																																			ZNF197	-	pfscan_Znf_C2H2		0.388	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	G	NM_006991		44685487	1	no_errors	ENST00000344387	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44685487	G	A	44685487	2	1	164	1	0	0	0	0	0	0	0	1	17789	933	33	1		1	ZNF197	3	44685487	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2022512	44685487	153336943	157	30945										
LIMD1	8994	genome.wustl.edu	37	chr3	45637450	45637450	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccagctggtctggacggttCacagcagggtgcggtccctg	16	12	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:45637450C>T	ENST00000273317.4	+	1	1100	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.S360L	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	360					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CTGGACGGTTCACAGCAGGGT	0.617																																																	0													67	65	66					3																	45637450		2203	4300	6503	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1079C>T	3.37:g.45637450C>T	ENSP00000273317:p.Ser360Leu		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S360L	ENST00000273317.4	37	c.1079	CCDS2729.1	3	.	.	.	.	.	.	.	.	.	.	C	3.434	-0.115551	0.06881	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.57107	0.42;0.61	4.51	1.02	0.19986	.	6.654290	0.00424	N	0.000073	T	0.24470	0.0593	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15093	-1.0449	10	0.19590	T	0.45	.	0.9679	0.01410	0.4166:0.2879:0.1437:0.1518	.	360	Q9UGP4	LIMD1_HUMAN	L	360	ENSP00000394537:S360L;ENSP00000273317:S360L	ENSP00000273317:S360L	S	+	2	0	LIMD1	45612454	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.783000	0.26802	0.280000	0.22209	0.655000	0.94253	TCA	LIMD1	-	NULL		0.617	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	C	NM_014240		45637450	1	no_errors	ENST00000273317	ensembl	human	known	70_37	missense	SNP	0.001	T	T	45637450	C	T	45637450	3	4	164	1	0	0	0	0	1	0	0	0	8818	838	29	1	1081	1	LIMD1	3	45637450	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	951963	45637450	152384980	158	30946										
SACM1L	22908	genome.wustl.edu	37	chr3	45751043	45751043	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaccatgtcttgaatgtggaTggattttacttttcaacaac	7	7	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:45751043T>C	ENST00000389061.5	+	5	591	c.387T>C	c.(385-387)gaT>gaC	p.D129D	SACM1L_ENST00000541314.1_Silent_p.D68D|SACM1L_ENST00000418611.1_Silent_p.D26D|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	129	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TGAATGTGGATGGATTTTACT	0.348																																																	0													126	121	122					3																	45751043		2203	4300	6503	SO:0001819	synonymous_variant	22908			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.387T>C	3.37:g.45751043T>C			A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	pfam_Syja_N,pfscan_Syja_N	p.D129	ENST00000389061.5	37	c.387	CCDS33745.1	3																																																																																			SACM1L	-	pfam_Syja_N,pfscan_Syja_N		0.348	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACM1L	HGNC	protein_coding	OTTHUMT00000345065.2	T	NM_014016		45751043	1	no_errors	ENST00000389061	ensembl	human	known	70_37	silent	SNP	1.000	C	C	45751043	T	C	45751043	2	2	164	1	0	0	0	0	0	0	0	1	13833	1461	51	5		5	SACM1L	3	45751043	Silent	SNP	T	TCGA-JX-A3Q0-01A-11D-A21Q-09	113593	45751043	152271387	159	30947										
CDC25A	993	genome.wustl.edu	37	chr3	48224493	48224493	+	Missense_Mutation	SNP	G	G	C													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcagaatggctcctcttcaGagctggactacatcccaaca							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48224493G>C	ENST00000302506.3	-	5	763	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	RNU7-128P_ENST00000517247.1_RNA|CDC25A_ENST00000351231.3_Missense_Mutation_p.L119V	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	119					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTCCTCTTCAGAGCTGGACTA	0.383																																																	0													103	94	97					3																	48224493		2203	4300	6503	SO:0001583	missense	993			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.355C>G	3.37:g.48224493G>C	ENSP00000303706:p.Leu119Val		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.L119V	ENST00000302506.3	37	c.355	CCDS2760.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009679	0.75046	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342;ENST00000437972	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	6.17	5.3	0.74995	.	0.132775	0.52532	D	0.000078	T	0.53834	0.1821	M	0.80422	2.495	0.41717	D	0.989484	D;D	0.65815	0.995;0.993	D;D	0.67382	0.919;0.951	T	0.56774	-0.7923	10	0.40728	T	0.16	.	11.3845	0.49776	0.0821:0.0:0.9179:0.0	.	119;119	P30304-2;P30304	.;MPIP1_HUMAN	V	119;119;118;119	ENSP00000303706:L119V;ENSP00000343166:L119V;ENSP00000416483:L118V;ENSP00000404285:L119V	ENSP00000303706:L119V	L	-	1	2	CDC25A	48199497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.764000	0.55264	1.627000	0.50400	0.655000	0.94253	CTG	CDC25A	-	pfam_MPI_Phosphatase		0.383	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2	G	NM_001789		48224493	-1	no_errors	ENST00000302506	ensembl	human	known	70_37	missense	SNP	0.999	C	C	48224493	G	C	48224493	3	2	164	1	0	0	0	0	1	0	0	0	3067	933	33	1	1263	1	CDC25A	3	48224493	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2473450	48224493	149797937	160	30948	195	2								
CDC25A	993	genome.wustl.edu	37	chr3	48224499	48224499	+	Missense_Mutation	SNP	G	G	A													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atggctcctcttcagagctgGactacatcccaacagcttct							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48224499G>A	ENST00000302506.3	-	5	757	c.349C>T	c.(349-351)Cca>Tca	p.P117S	RNU7-128P_ENST00000517247.1_RNA|CDC25A_ENST00000351231.3_Missense_Mutation_p.P117S	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	117					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTCAGAGCTGGACTACATCCC	0.368																																																	0													100	91	94					3																	48224499		2203	4300	6503	SO:0001583	missense	993			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.349C>T	3.37:g.48224499G>A	ENSP00000303706:p.Pro117Ser		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.P117S	ENST00000302506.3	37	c.349	CCDS2760.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527904	0.85706	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342;ENST00000437972	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79736	0.4497	M	0.82323	2.585	0.58432	D	0.999997	P;P	0.45986	0.87;0.825	P;P	0.53401	0.453;0.725	T	0.81362	-0.0967	10	0.72032	D	0.01	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	117;117	P30304-2;P30304	.;MPIP1_HUMAN	S	117;117;116;117	ENSP00000303706:P117S;ENSP00000343166:P117S;ENSP00000416483:P116S;ENSP00000404285:P117S	ENSP00000303706:P117S	P	-	1	0	CDC25A	48199503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.318000	0.65829	2.941000	0.99782	0.655000	0.94253	CCA	CDC25A	-	pfam_MPI_Phosphatase		0.368	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2	G	NM_001789		48224499	-1	no_errors	ENST00000302506	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48224499	G	A	48224499	3	1	164	1	0	0	0	0	1	0	0	0	3067	1174	41	1	1269	1	CDC25A	3	48224499	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6	48224499	149797931	161	30949	195	2								
PLXNB1	5364	genome.wustl.edu	37	chr3	48459641	48459641	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcactgggtggccacagcctCagcctcaccacaggcctccc	10	19	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48459641C>T	ENST00000358536.4	-	15	3450	c.3181G>A	c.(3181-3183)Gag>Aag	p.E1061K	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1061K|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E878K|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E878K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1061					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACAGCCTCAGCCTCACCA	0.642																																																	0													67	47	54					3																	48459641		2202	4300	6502	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3181G>A	3.37:g.48459641C>T	ENSP00000351338:p.Glu1061Lys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1061K	ENST00000358536.4	37	c.3181	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682948	0.68157	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03181	4.02;4.03;4.02;4.03	5.59	5.59	0.84812	.	0.113114	0.39909	N	0.001230	T	0.04907	0.0132	L	0.43152	1.355	0.80722	D	1	P;B	0.51351	0.944;0.087	P;B	0.45310	0.476;0.084	T	0.53330	-0.8454	10	0.10902	T	0.67	.	11.9702	0.53060	0.0:0.9213:0.0:0.0787	.	1061;878	O43157;O43157-2	PLXB1_HUMAN;.	K	1061;878;1061;878	ENSP00000296440:E1061K;ENSP00000351242:E878K;ENSP00000351338:E1061K;ENSP00000414199:E878K	ENSP00000296440:E1061K	E	-	1	0	PLXNB1	48434645	0.510000	0.26171	0.995000	0.50966	0.987000	0.75469	2.833000	0.48159	2.642000	0.89623	0.561000	0.74099	GAG	PLXNB1	-	superfamily_Plexin-like_fold,smart_Plexin-like		0.642	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	C	NM_002673		48459641	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	0.994	T	T	48459641	C	T	48459641	3	4	164	1	0	0	0	0	1	0	0	0	12147	835	29	1	3322	1	PLXNB1	3	48459641	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	235142	48459641	149562789	162	30950										
ATRIP	84126	genome.wustl.edu	37	chr3	48506952	48506952	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccccgaggtggagtgtggctGaggccctgagtgtccagcca	16	12	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48506952G>A	ENST00000320211.3	+	13	2488	c.2375G>A	c.(2374-2376)tGa>tAa	p.*792*	TREX1_ENST00000436480.2_5'Flank|ATRIP_ENST00000346691.4_Silent_p.*765*|TREX1_ENST00000296443.9_5'UTR|ATRIP_ENST00000357105.6_Silent_p.*665*|ATRIP_ENST00000412052.1_Silent_p.*699*|TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000422277.2_5'Flank|SHISA5_ENST00000465449.1_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	0					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGTGTGGCTGAGGCCCTGAG	0.577								Other conserved DNA damage response genes			OREG0015557	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													84	72	76					3																	48506952		2203	4300	6503	SO:0001819	synonymous_variant	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2375G>A	3.37:g.48506952G>A		955	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Silent	SNP	NULL	p.*792	ENST00000320211.3	37	c.2375	CCDS2768.1	3																																																																																			ATRIP	-	NULL		0.577	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	G	NM_130384		48506952	1	no_errors	ENST00000320211	ensembl	human	known	70_37	silent	SNP	0.997	A	A	48506952	G	A	48506952	2	1	164	1	0	0	0	0	0	0	0	1	1206	1285	45	1		1	ATRIP	3	48506952	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	47311	48506952	149515478	163	30951										
COL7A1	1294	genome.wustl.edu	37	chr3	48602852	48602852	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctgtcctcaccttcctcctCtgcatgagagacgcggagca	10	15	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48602852C>G	ENST00000328333.8	-	115	8625	c.8518G>C	c.(8518-8520)Gag>Cag	p.E2840Q	COL7A1_ENST00000470076.1_5'Flank|UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000454817.1_Missense_Mutation_p.E2808Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2840	Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTCCTCCTCTGCATGAGAG	0.632																																																	0													27	29	29					3																	48602852		2203	4299	6502	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8518G>C	3.37:g.48602852C>G	ENSP00000332371:p.Glu2840Gln		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E2840Q	ENST00000328333.8	37	c.8518	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341904	0.24339	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.85556	-1.99;-2.0	4.5	4.5	0.54988	.	0.000000	0.44285	D	0.000468	T	0.77631	0.4159	L	0.27053	0.805	0.32529	N	0.535227	P	0.38395	0.629	B	0.39771	0.309	T	0.82220	-0.0565	10	0.40728	T	0.16	.	12.5829	0.56399	0.0:1.0:0.0:0.0	.	2840	Q02388	CO7A1_HUMAN	Q	2840;2808	ENSP00000332371:E2840Q;ENSP00000412569:E2808Q	ENSP00000332371:E2840Q	E	-	1	0	COL7A1	48577856	0.026000	0.19158	0.881000	0.34555	0.473000	0.32948	1.139000	0.31504	2.357000	0.79964	0.467000	0.42956	GAG	COL7A1	-	NULL		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	C	NM_000094		48602852	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.912	G	G	48602852	C	G	48602852	3	3	164	1	0	0	0	0	1	0	0	0	3709	922	32	1	332	1	COL7A1	3	48602852	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	95900	48602852	149419578	164	30952										
WDR6	11180	genome.wustl.edu	37	chr3	49050363	49050363	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcggggtagtagcttgcctaGagatctcagccgcaccctct	12	13	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49050363G>C	ENST00000608424.1	+	2	1435	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	WDR6_ENST00000448293.1_Missense_Mutation_p.E415Q|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.E496Q|WDR6_ENST00000489684.1_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	466					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGCTTGCCTAGAGATCTCAGC	0.597																																																	0													61	53	56					3																	49050363		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1396G>C	3.37:g.49050363G>C	ENSP00000477389:p.Glu466Gln		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E496Q	ENST00000608424.1	37	c.1486		3	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382060	0.61845	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.60920	0.15;2.26	5.49	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.173875	0.51477	D	0.000082	T	0.52597	0.1744	N	0.14661	0.345	0.32276	N	0.568203	D;D	0.67145	0.996;0.967	P;P	0.56788	0.806;0.522	T	0.56553	-0.7960	10	0.14252	T	0.57	-29.5106	15.753	0.78001	0.0:0.0:0.8626:0.1374	.	466;415	Q9NNW5;E9PDU5	WDR6_HUMAN;.	Q	496;415	ENSP00000378857:E496Q;ENSP00000413432:E415Q	ENSP00000378857:E496Q	E	+	1	0	WDR6	49025367	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.107000	0.57811	1.319000	0.45190	0.561000	0.74099	GAG	WDR6	-	superfamily_Quino_amine_DH_bsu		0.597	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49050363	1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49050363	G	C	49050363	3	2	164	1	0	0	0	0	1	0	0	0	17341	943	33	1	1492	1	WDR6	3	49050363	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	447511	49050363	148972067	165	30953										
LAMB2	3913	genome.wustl.edu	37	chr3	49161197	49161197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctccacaagctgtgcagtgGaggcggctgaggtgttgcgg	17	10	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49161197G>A	ENST00000418109.1	-	25	3925	c.3761C>T	c.(3760-3762)tCc>tTc	p.S1254F	USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.S1254F|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1254	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGTGCAGTGGAGGCGGCTGA	0.627																																																	0													34	37	36					3																	49161197		2202	4298	6500	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3761C>T	3.37:g.49161197G>A	ENSP00000388325:p.Ser1254Phe		Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S1254F	ENST00000418109.1	37	c.3761	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940314	0.52972	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.36520	1.25;1.25	5.69	5.69	0.88448	.	0.240489	0.41712	D	0.000824	T	0.35682	0.0940	L	0.40543	1.245	0.53005	D	0.999961	B	0.10296	0.003	B	0.08055	0.003	T	0.07770	-1.0755	10	0.56958	D	0.05	.	19.815	0.96564	0.0:0.0:1.0:0.0	.	1254	P55268	LAMB2_HUMAN	F	1254;1254;21	ENSP00000388325:S1254F;ENSP00000307156:S1254F	ENSP00000307156:S1254F	S	-	2	0	LAMB2	49136201	0.998000	0.40836	0.324000	0.25361	0.995000	0.86356	6.579000	0.74036	2.681000	0.91329	0.561000	0.74099	TCC	LAMB2	-	NULL		0.627	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49161197	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	missense	SNP	0.935	A	A	49161197	G	A	49161197	3	1	164	1	0	0	0	0	1	0	0	0	8631	1174	41	1	1671	1	LAMB2	3	49161197	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	110834	49161197	148861233	166	30954			3	127		5	5	5009	N	GG_G	8.889706e-06
LAMB2	3913	genome.wustl.edu	37	chr3	49162313	49162313	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcaccggccacctggccttGatgggtccccaaagtgccca	12	16	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49162313G>C	ENST00000418109.1	-	22	3094	c.2930C>G	c.(2929-2931)tCa>tGa	p.S977*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.S977*|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	977	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTGGCCTTGATGGGTCCCC	0.607																																																	0													82	74	76					3																	49162313		2203	4300	6503	SO:0001587	stop_gained	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2930C>G	3.37:g.49162313G>C	ENSP00000388325:p.Ser977*		Q16321	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S977*	ENST00000418109.1	37	c.2930	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.126191	0.98081	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	.	.	.	5.7	2.8	0.32819	.	0.303789	0.32884	N	0.005539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	1.6749	0.02820	0.2567:0.1476:0.4448:0.151	.	.	.	.	X	977	.	ENSP00000307156:S977X	S	-	2	0	LAMB2	49137317	0.000000	0.05858	0.974000	0.42286	0.972000	0.66771	0.632000	0.24583	1.430000	0.47334	0.561000	0.74099	TCA	LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49162313	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	nonsense	SNP	0.003	C	C	49162313	G	C	49162313	4	2	164	1	0	0	0	0	0	1	0	0	8631	1294	45	1	2514	1	LAMB2	3	49162313	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1116	49162313	148860117	167	30955			3	127		5	5	5009	N	GG_G	8.889706e-06
LAMB2	3913	genome.wustl.edu	37	chr3	49162772	49162772	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcatctgcatgcccattgcaGacacatggccggcagctagg	11	13	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49162772G>A	ENST00000418109.1	-	20	2798	c.2634C>T	c.(2632-2634)gtC>gtT	p.V878V	LAMB2_ENST00000305544.4_Silent_p.V878V|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	878	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCCATTGCAGACACATGGCC	0.607																																																	0													107	103	105					3																	49162772		2203	4300	6503	SO:0001819	synonymous_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2634C>T	3.37:g.49162772G>A			Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.V878	ENST00000418109.1	37	c.2634	CCDS2789.1	3																																																																																			LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49162772	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49162772	G	A	49162772	2	1	164	1	0	0	0	0	0	0	0	1	8631	929	33	1		1	LAMB2	3	49162772	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	459	49162772	148859658	168	30956			3	127		5	5	5009	N	GG_G	8.889706e-06
LAMB2	3913	genome.wustl.edu	37	chr3	49163434	49163434	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tagatgagggtggacaggctGatgaggaggggtgcgcaggc	21	5	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49163434G>A	ENST00000418109.1	-	18	2474	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	LAMB2_ENST00000305544.4_Silent_p.I770I|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	770	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACAGGCTGATGAGGAGGG	0.622																																																	0													78	75	76					3																	49163434		2203	4300	6503	SO:0001819	synonymous_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2310C>T	3.37:g.49163434G>A			Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.I770	ENST00000418109.1	37	c.2310	CCDS2789.1	3																																																																																			LAMB2	-	pfscan_Laminin_IV		0.622	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49163434	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	silent	SNP	0.998	A	A	49163434	G	A	49163434	2	1	164	1	0	0	0	0	0	0	0	1	8631	1280	45	1		1	LAMB2	3	49163434	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	662	49163434	148858996	169	30957			3	127		5	5	5009	N	GG_G	8.889706e-06
LAMB2	3913	genome.wustl.edu	37	chr3	49166205	49166206	+	Missense_Mutation	DNP	GG	GG	AT													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acgaagcctgagccagtccaGgatggagtttccccgggggt							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49166205_49166206GG>AT	ENST00000418109.1	-	15	1942_1943	c.1778_1779CC>AT	c.(1777-1779)tCC>tAT	p.S593Y	LAMB2_ENST00000305544.4_Missense_Mutation_p.S593Y	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	593	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCAGTCCAGGATGGAGTTTC	0.614																																																	0																																										SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1778_1779delinsAT	3.37:g.49166205_49166206delinsAT	ENSP00000388325:p.Ser593Tyr		Q16321	Silent|Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S593|p.S593Y	ENST00000418109.1	37	c.1779|c.1778	CCDS2789.1	3																																																																																			LAMB2	-	pfscan_Laminin_IV		0.614	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49166205|49166206	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	silent|missense	SNP	0.418|0.513	A|T	AT	49166206	GG	AT	49166205	3	1	164	1	0	0	0	0	1	0	0	0	8631	987	35	4	3693	4	LAMB2	3	49166205	Missense_Mutation	DNP	GG	TCGA-JX-A3Q0-01A-11D-A21Q-09	2771	49166205	148856225	170	30958			3	127		5	5	5009	N	GG_G	8.889706e-06
BSN	8927	genome.wustl.edu	37	chr3	49689000	49689000	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggtgggcaagccttactctCaggatgcgtctcggagccca	13	12	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49689000C>T	ENST00000296452.4	+	5	2125	c.2011C>T	c.(2011-2013)Cag>Tag	p.Q671*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	671					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCTTACTCTCAGGATGCGTC	0.577																																																	0													83	78	79					3																	49689000		2203	4300	6503	SO:0001587	stop_gained	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2011C>T	3.37:g.49689000C>T	ENSP00000296452:p.Gln671*		O43161|Q7LGH3	Nonsense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.Q671*	ENST00000296452.4	37	c.2011	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	c	27.3	4.820084	0.90873	.	.	ENSG00000164061	ENST00000296452	.	.	.	5.16	5.16	0.70880	.	0.279735	0.35407	N	0.003224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.0145	0.58749	0.0:0.922:0.0:0.0779	.	.	.	.	X	671	.	ENSP00000296452:Q671X	Q	+	1	0	BSN	49664004	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	3.594000	0.54008	2.395000	0.81488	0.556000	0.70494	CAG	BSN	-	NULL		0.577	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49689000	1	no_errors	ENST00000296452	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	49689000	C	T	49689000	4	4	164	1	0	0	0	0	0	1	0	0	1533	827	29	1	2029	1	BSN	3	49689000	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	522795	49689000	148333430	171	30959										
TMEM115	11070	genome.wustl.edu	37	chr3	50396484	50396484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctggcgggcgcctggcaggGcacgttgcatcttcctggcg	17	13	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:50396484G>A	ENST00000266025.3	-	1	557	c.11C>T	c.(10-12)gCc>gTc	p.A4V	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	4					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCTGGCAGGGCACGTTGCAT	0.687																																																	0													10	9	9					3																	50396484		2102	4147	6249	SO:0001583	missense	11070			BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"placental protein 6"	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.11C>T	3.37:g.50396484G>A	ENSP00000266025:p.Ala4Val		A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	pfam_DUF1751_Mem_euk	p.A4V	ENST00000266025.3	37	c.11	CCDS2828.1	3	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695205	0.48202	.	.	ENSG00000126062	ENST00000266025	.	.	.	4.95	4.95	0.65309	.	0.195815	0.44902	D	0.000410	T	0.32823	0.0842	N	0.22421	0.69	0.32365	N	0.556679	B	0.25105	0.118	B	0.17098	0.017	T	0.34601	-0.9822	9	0.29301	T	0.29	-1.4517	13.4811	0.61336	0.0:0.0:0.8426:0.1574	.	4	Q12893	TM115_HUMAN	V	4	.	ENSP00000266025:A4V	A	-	2	0	TMEM115	50371488	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.370000	0.52372	2.679000	0.91253	0.655000	0.94253	GCC	TMEM115	-	NULL		0.687	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM115	HGNC	protein_coding	OTTHUMT00000102784.3	G	NM_007024		50396484	-1	no_errors	ENST00000266025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50396484	G	A	50396484	3	1	164	1	0	0	0	0	1	0	0	0	16059	1203	42	4	1052	4	TMEM115	3	50396484	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	707484	50396484	147625946	172	30960										
STAB1	23166	genome.wustl.edu	37	chr3	52549479	52549479	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtctaccgatctggcttctCcttctcccggggctgctctt	9	15	5	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:52549479C>G	ENST00000321725.6	+	37	3981	c.3905C>G	c.(3904-3906)tCc>tGc	p.S1302C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1302					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGGCTTCTCCTTCTCCCGG	0.617																																																	0													82	75	78					3																	52549479		2202	4300	6502	SO:0001583	missense	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3905C>G	3.37:g.52549479C>G	ENSP00000312946:p.Ser1302Cys		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S1302C	ENST00000321725.6	37	c.3905	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856210	0.51376	.	.	ENSG00000010327	ENST00000321725	T	0.03094	4.05	4.55	3.67	0.42095	.	0.598474	0.16909	N	0.194560	T	0.03915	0.0110	L	0.29908	0.895	0.23616	N	0.997282	P	0.43287	0.802	B	0.43301	0.415	T	0.39014	-0.9634	10	0.51188	T	0.08	-30.8785	7.8209	0.29286	0.0:0.8897:0.0:0.1103	.	1302	Q9NY15	STAB1_HUMAN	C	1302	ENSP00000312946:S1302C	ENSP00000312946:S1302C	S	+	2	0	STAB1	52524519	0.027000	0.19231	0.850000	0.33497	0.907000	0.53573	1.690000	0.37711	2.520000	0.84964	0.563000	0.77884	TCC	STAB1	-	NULL		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	C	NM_015136		52549479	1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.465	G	G	52549479	C	G	52549479	3	3	164	1	0	0	0	0	1	0	0	0	15267	855	30	1	4051	1	STAB1	3	52549479	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2152995	52549479	145472951	173	30961										
FLNB	2317	genome.wustl.edu	37	chr3	58135868	58135868	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gaagatcagtggggagggaaGagtcaaagagagcatcaccc	15	7	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:58135868G>A	ENST00000295956.4	+	38	6446	c.6281G>A	c.(6280-6282)aGa>aAa	p.R2094K	FLNB_ENST00000490882.1_Missense_Mutation_p.R2125K|FLNB_ENST00000493452.1_Missense_Mutation_p.R1901K|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000358537.3_Missense_Mutation_p.R2070K|FLNB_ENST00000429972.2_Missense_Mutation_p.R2083K|FLNB_ENST00000357272.4_Missense_Mutation_p.R2094K|FLNB_ENST00000419752.2_Missense_Mutation_p.R1914K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2094	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGGAGGGAAGAGTCAAAGAG	0.587																																																	0													124	127	126					3																	58135868		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6281G>A	3.37:g.58135868G>A	ENSP00000295956:p.Arg2094Lys		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2094K	ENST00000295956.4	37	c.6281	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.749089	0.96882	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.86769	-2.1;-2.13;-2.1;-2.1;-2.17;-1.85;-1.86	6.17	6.17	0.99709	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	M	0.68593	2.085	0.80722	D	1	P;B;D;B;P;P	0.55605	0.941;0.32;0.972;0.173;0.95;0.95	P;P;D;B;D;D	0.79108	0.893;0.631;0.992;0.128;0.992;0.992	D	0.91164	0.4963	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2070;2125;1901;1914;2083;2094	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	2094;2125;2070;2083;2094;1901;1914	ENSP00000295956:R2094K;ENSP00000420213:R2125K;ENSP00000351339:R2070K;ENSP00000415599:R2083K;ENSP00000349819:R2094K;ENSP00000418510:R1901K;ENSP00000414532:R1914K	ENSP00000295956:R2094K	R	+	2	0	FLNB	58110908	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.756000	0.98918	2.941000	0.99782	0.655000	0.94253	AGA	FLNB	-	superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like		0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	G	NM_001457		58135868	1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58135868	G	A	58135868	3	1	164	1	0	0	0	0	1	0	0	0	5952	942	33	1	6528	1	FLNB	3	58135868	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5586389	58135868	139886562	174	30962										
CNTN3	5067	genome.wustl.edu	37	chr3	74315737	74315737	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttaatgggcagcacaagttCagctgaagttttatttgtgt	10	5	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:74315737C>T	ENST00000263665.6	-	21	2908	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	961	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGCACAAGTTCAGCTGAAGTT	0.383																																																	0													246	223	231					3																	74315737		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2881G>A	3.37:g.74315737C>T	ENSP00000263665:p.Glu961Lys		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E961K	ENST00000263665.6	37	c.2881	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965815	0.92855	.	.	ENSG00000113805	ENST00000263665	T	0.56941	0.43	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.75615	2.305	0.80722	D	1	P	0.44478	0.836	P	0.60541	0.876	T	0.67193	-0.5732	10	0.30078	T	0.28	.	18.8375	0.92168	0.0:1.0:0.0:0.0	.	961	Q9P232	CNTN3_HUMAN	K	961	ENSP00000263665:E961K	ENSP00000263665:E961K	E	-	1	0	CNTN3	74398427	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.949000	0.75971	2.534000	0.85438	0.655000	0.94253	GAA	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	C	NM_020872		74315737	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74315737	C	T	74315737	3	4	164	1	0	0	0	0	1	0	0	0	3647	835	29	1	213	1	CNTN3	3	74315737	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	16179869	74315737	123706693	175	30963										
CNTN3	5067	genome.wustl.edu	37	chr3	74316501	74316503	+	In_Frame_Del	DEL	AAC	AAC	-													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttagtgtctgtggcattccaAacaacatttcctggtggctg							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	AAC	AAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:74316501_74316503delAAC	ENST00000263665.6	-	20	2758_2760	c.2731_2733delGTT	c.(2731-2733)gttdel	p.V911del	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	911	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGGCATTCCAAACAACATTTCCT	0.384																																																	0																																										SO:0001651	inframe_deletion	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2731_2733delGTT	3.37:g.74316504_74316506delAAC	ENSP00000263665:p.Val911del		B9EK50|Q9H039	In_Frame_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V911in_frame_del	ENST00000263665.6	37	c.2733_2731	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.384	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	AAC	NM_020872		74316503	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	in_frame_del	DEL	0.971:0.997:0.998	-	-	74316503	AAC	-	74316501	7	5	164	1	0	1	0	1	0	0	0	0	3647	1	1	0	365	0	CNTN3	3	74316501	In_Frame_Del	DEL	AAC	TCGA-JX-A3Q0-01A-11D-A21Q-09	764	74316501	123705929	176	30964										
POU1F1	5449	genome.wustl.edu	37	chr3	87313556	87313556	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttccgcctgagttcctgcttGaaatcagcagctgtggggtc	12	11	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:87313556G>C	ENST00000350375.2	-	3	445	c.321C>G	c.(319-321)ttC>ttG	p.F107L	POU1F1_ENST00000560656.1_Missense_Mutation_p.F107L|POU1F1_ENST00000344265.3_Missense_Mutation_p.F133L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	107					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GTTCCTGCTTGAAATCAGCAG	0.433																																																	0													96	100	99					3																	87313556		2203	4300	6503	SO:0001583	missense	5449			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"Homeoboxes / POU class"	9210	protein-coding gene	gene with protein product	"growth hormone factor 1"	173110	"POU domain class 1, transcription factor 1"	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.321C>G	3.37:g.87313556G>C	ENSP00000263781:p.Phe107Leu		O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.F133L	ENST00000350375.2	37	c.399	CCDS2919.1	3	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712450	0.68730	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.87966	-2.32;-2.3	5.79	2.55	0.30701	.	0.354898	0.36002	N	0.002847	D	0.89705	0.6792	M	0.62723	1.935	0.43924	D	0.99657	D;D	0.63880	0.993;0.969	D;D	0.77557	0.99;0.914	D	0.86011	0.1501	10	0.10111	T	0.7	.	10.9782	0.47478	0.2965:0.0:0.7035:0.0	.	133;107	P28069-2;P28069	.;PIT1_HUMAN	L	107;133	ENSP00000263781:F107L;ENSP00000342931:F133L	ENSP00000342931:F133L	F	-	3	2	POU1F1	87396246	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.614000	0.36911	0.765000	0.33221	0.655000	0.94253	TTC	POU1F1	-	NULL		0.433	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU1F1	HGNC	protein_coding	OTTHUMT00000352827.1	G	NM_000306		87313556	-1	no_errors	ENST00000344265	ensembl	human	known	70_37	missense	SNP	0.998	C	C	87313556	G	C	87313556	3	2	164	1	0	0	0	0	1	0	0	0	12293	1281	45	1	570	1	POU1F1	3	87313556	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	12997055	87313556	110708874	177	30965										
ST3GAL6	10402	genome.wustl.edu	37	chr3	98512551	98512551	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aatgtgactgcagagcagctCtttttgaaggacattataga	10	6	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:98512551C>T	ENST00000483910.1	+	10	1231	c.942C>T	c.(940-942)ctC>ctT	p.L314L	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Silent_p.L314L|ST3GAL6_ENST00000265261.6_Silent_p.L196L	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	314					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CAGAGCAGCTCTTTTTGAAGG	0.353																																																	0													111	116	114					3																	98512551		2203	4300	6503	SO:0001819	synonymous_variant	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.942C>T	3.37:g.98512551C>T			B2RCH2|B3KMI1|D3DN39|F8W6U0	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L314	ENST00000483910.1	37	c.942	CCDS2933.1	3																																																																																			ST3GAL6	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.353	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	C	NM_006100		98512551	1	no_errors	ENST00000394162	ensembl	human	known	70_37	silent	SNP	0.978	T	T	98512551	C	T	98512551	2	4	164	1	0	0	0	0	0	0	0	1	15249	900	32	1		1	ST3GAL6	3	98512551	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	11198995	98512551	99509879	178	30966										
TRAT1	50852	genome.wustl.edu	37	chr3	108572683	108572683	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcatgatgatcccatcagaCtgtttggattgatccgtgct	9	9	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:108572683C>G	ENST00000295756.6	+	6	750	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	TRAT1_ENST00000426646.1_Missense_Mutation_p.L137V	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	174					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TCCCATCAGACTGTTTGGATT	0.423																																																	0													108	111	110					3																	108572683		2203	4300	6503	SO:0001583	missense	50852			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.520C>G	3.37:g.108572683C>G	ENSP00000295756:p.Leu174Val		Q9NZX5	Missense_Mutation	SNP	NULL	p.L174V	ENST00000295756.6	37	c.520	CCDS33813.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041864	0.75732	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.53423	0.67;0.62	5.85	4.98	0.66077	.	0.000000	0.49305	D	0.000157	T	0.65719	0.2718	M	0.69823	2.125	0.35445	D	0.795234	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76146	-0.3066	10	0.87932	D	0	-23.8213	10.914	0.47124	0.0:0.9141:0.0:0.0859	.	137;174	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	V	174;137	ENSP00000295756:L174V;ENSP00000410097:L137V	ENSP00000295756:L174V	L	+	1	2	TRAT1	110055373	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	1.104000	0.31074	1.483000	0.48342	0.655000	0.94253	CTG	TRAT1	-	NULL		0.423	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAT1	HGNC	protein_coding	OTTHUMT00000353794.1	C	NM_016388		108572683	1	no_errors	ENST00000295756	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108572683	C	G	108572683	3	3	164	1	0	0	0	0	1	0	0	0	16497	564	20	4	542	4	TRAT1	3	108572683	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10060132	108572683	89449747	179	30967										
ABHD10	55347	genome.wustl.edu	37	chr3	111700728	111700728	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaaagtccaggaattatcttCatccctggctatctttctta	5	10	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:111700728C>T	ENST00000273359.3	+	2	267	c.240C>T	c.(238-240)ttC>ttT	p.F80F	ABHD10_ENST00000534857.1_Intron|ABHD10_ENST00000494817.1_Silent_p.F80F	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	80					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GAATTATCTTCATCCCTGGCT	0.418																																																	0													117	111	113					3																	111700728		2203	4300	6503	SO:0001819	synonymous_variant	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.240C>T	3.37:g.111700728C>T			B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Silent	SNP	pfam_AB_hydrolase_1,pfam_Peptidase_S9	p.F80	ENST00000273359.3	37	c.240	CCDS2963.1	3																																																																																			ABHD10	-	NULL		0.418	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD10	HGNC	protein_coding	OTTHUMT00000354326.1	C	NM_018394		111700728	1	no_errors	ENST00000273359	ensembl	human	known	70_37	silent	SNP	1.000	T	T	111700728	C	T	111700728	2	4	164	1	0	0	0	0	0	0	0	1	74	825	29	1		1	ABHD10	3	111700728	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3128045	111700728	86321702	180	30968										
CCDC52	152185	genome.wustl.edu	37	chr3	113176079	113176079	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgctggaaaattcttggccaGattcatgttatctggagggt	12	6	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:113176079G>C	ENST00000295872.4	-	13	1820	c.1561C>G	c.(1561-1563)Ctg>Gtg	p.L521V		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	521					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTCTTGGCCAGATTCATGTTA	0.468																																																	0													98	96	97					3																	113176079		2203	4300	6503	SO:0001583	missense	152185			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1561C>G	3.37:g.113176079G>C	ENSP00000295872:p.Leu521Val		D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.L521V	ENST00000295872.4	37	c.1561	CCDS2973.1	3	.	.	.	.	.	.	.	.	.	.	G	3.133	-0.178095	0.06380	.	.	ENSG00000163611	ENST00000295872	T	0.33438	1.41	5.42	2.61	0.31194	.	0.969175	0.08529	N	0.932359	T	0.36468	0.0968	M	0.62723	1.935	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.38824	-0.9643	10	0.41790	T	0.15	0.1248	15.7104	0.77623	0.0:0.5812:0.4188:0.0	.	417;521	B3KX77;Q8N0Z3	.;SPICE_HUMAN	V	521	ENSP00000295872:L521V	ENSP00000295872:L521V	L	-	1	2	SPICE1	114658769	0.003000	0.15002	0.058000	0.19502	0.004000	0.04260	0.690000	0.25451	0.249000	0.21456	-0.304000	0.09214	CTG	SPICE1	-	NULL		0.468	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	G	NM_144718		113176079	-1	no_errors	ENST00000295872	ensembl	human	known	70_37	missense	SNP	0.011	C	C	113176079	G	C	113176079	3	2	164	1	0	0	0	0	1	0	0	0	2827	933	33	1	1030	1	CCDC52	3	113176079	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1475351	113176079	84846351	181	30969										
CCDC52	152185	genome.wustl.edu	37	chr3	113187197	113187197	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgcagaggttgtgctacctGatgatatgtttttcttcggc	11	8	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:113187197G>A	ENST00000295872.4	-	10	1203	c.944C>T	c.(943-945)tCa>tTa	p.S315L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	315					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TGTGCTACCTGATGATATGTT	0.368																																																	0													122	123	123					3																	113187197		2203	4300	6503	SO:0001583	missense	152185			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.944C>T	3.37:g.113187197G>A	ENSP00000295872:p.Ser315Leu		D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.S315L	ENST00000295872.4	37	c.944	CCDS2973.1	3	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660418	0.47572	.	.	ENSG00000163611	ENST00000295872	T	0.32753	1.44	5.31	4.24	0.50183	.	0.533581	0.19865	N	0.104337	T	0.27731	0.0682	L	0.51422	1.61	0.09310	N	1	B;B	0.29646	0.253;0.253	B;B	0.28232	0.087;0.087	T	0.18241	-1.0343	10	0.52906	T	0.07	-7.826	10.5585	0.45131	0.0809:0.0:0.7832:0.1359	.	211;315	B3KX77;Q8N0Z3	.;SPICE_HUMAN	L	315	ENSP00000295872:S315L	ENSP00000295872:S315L	S	-	2	0	SPICE1	114669887	0.140000	0.22579	0.026000	0.17262	0.292000	0.27327	1.598000	0.36740	2.498000	0.84270	0.455000	0.32223	TCA	SPICE1	-	NULL		0.368	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	G	NM_144718		113187197	-1	no_errors	ENST00000295872	ensembl	human	known	70_37	missense	SNP	0.001	A	A	113187197	G	A	113187197	3	1	164	1	0	0	0	0	1	0	0	0	2827	1294	45	1	1659	1	CCDC52	3	113187197	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	11118	113187197	84835233	182	30970										
ZNF80	7634	genome.wustl.edu	37	chr3	113955149	113955149	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tactctgttgggcaaaagcaGagtggtagccaaagtccttt	11	8	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:113955149G>A	ENST00000482457.2	-	1	1276	c.773C>T	c.(772-774)tCt>tTt	p.S258F	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GGCAAAAGCAGAGTGGTAGCC	0.403																																					GBM(23;986 1114 21716)												0													84	86	85					3																	113955149		2203	4300	6503	SO:0001583	missense	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.773C>T	3.37:g.113955149G>A	ENSP00000417192:p.Ser258Phe		Q6NSW4|Q6NT14	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S258F	ENST00000482457.2	37	c.773	CCDS2979.1	3	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456280	0.43634	.	.	ENSG00000174255	ENST00000482457	T	0.06449	3.3	2.72	0.799	0.18667	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	M	0.80982	2.52	0.09310	N	1	P	0.48911	0.917	P	0.46479	0.518	T	0.13308	-1.0514	9	0.72032	D	0.01	.	5.4737	0.16684	0.1283:0.2074:0.6643:0.0	.	258	P51504	ZNF80_HUMAN	F	258	ENSP00000417192:S258F	ENSP00000309812:S258F	S	-	2	0	ZNF80	115437839	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	-0.496000	0.06436	0.188000	0.20168	0.561000	0.74099	TCT	ZNF80	-	NULL		0.403	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	HGNC	protein_coding	OTTHUMT00000354696.2	G	NM_007136		113955149	-1	no_errors	ENST00000308095	ensembl	human	known	70_37	missense	SNP	0.005	A	A	113955149	G	A	113955149	3	1	164	1	0	0	0	0	1	0	0	0	18198	942	33	1	52	1	ZNF80	3	113955149	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	767952	113955149	84067281	183	30971										
IGSF11	152404	genome.wustl.edu	37	chr3	118621521	118621521	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcctggacatcacctgtggtGatgaccctctgttggctgtc	11	12	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:118621521G>A	ENST00000393775.2	-	7	1447	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	IGSF11_ENST00000489689.1_Missense_Mutation_p.S357L|IGSF11_ENST00000491903.1_Missense_Mutation_p.S353L|IGSF11_ENST00000441144.2_Missense_Mutation_p.S356L|IGSF11_ENST00000354673.2_Missense_Mutation_p.S380L|IGSF11_ENST00000425327.2_Missense_Mutation_p.S380L	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	381					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CACCTGTGGTGATGACCCTCT	0.522																																																	0													127	99	108					3																	118621521		2203	4300	6503	SO:0001583	missense	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1142C>T	3.37:g.118621521G>A	ENSP00000377370:p.Ser381Leu		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S381L	ENST00000393775.2	37	c.1142	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624832	0.66901	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.86164	-1.17;-1.39;-2.08;-1.17;-2.02;-1.93	5.28	5.28	0.74379	.	1.599030	0.03474	N	0.214123	D	0.90403	0.6996	N	0.14661	0.345	0.52501	D	0.999956	D;P;P;P;P	0.76494	0.999;0.836;0.928;0.747;0.883	D;B;P;B;P	0.78314	0.991;0.399;0.714;0.327;0.522	T	0.80863	-0.1192	10	0.51188	T	0.08	.	18.0656	0.89389	0.0:0.0:1.0:0.0	.	353;356;380;357;381	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	L	380;381;357;380;356;353	ENSP00000406092:S380L;ENSP00000377370:S381L;ENSP00000420486:S357L;ENSP00000346700:S380L;ENSP00000401240:S356L;ENSP00000417413:S353L	ENSP00000346700:S380L	S	-	2	0	IGSF11	120104211	1.000000	0.71417	0.013000	0.15412	0.389000	0.30415	7.038000	0.76537	2.757000	0.94681	0.655000	0.94253	TCA	IGSF11	-	NULL		0.522	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	G			118621521	-1	no_errors	ENST00000393775	ensembl	human	known	70_37	missense	SNP	0.515	A	A	118621521	G	A	118621521	3	1	164	1	0	0	0	0	1	0	0	0	7618	1294	45	1	157	1	IGSF11	3	118621521	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4666372	118621521	79400909	184	30972										
C3orf37	56941	genome.wustl.edu	37	chr3	129007710	129007710	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtggcaggatgcagactcatCtgagcgtatcattgctccca							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:129007710C>T	ENST00000383463.4	+	3	286	c.197C>T	c.(196-198)tCt>tTt	p.S66F	HMCES_ENST00000389735.3_Missense_Mutation_p.S66F|HMCES_ENST00000417226.2_Missense_Mutation_p.S66F|HMCES_ENST00000502878.2_Missense_Mutation_p.S66F	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	66							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										GCAGACTCATCTGAGCGTATC	0.413																																																	0													114	101	106					3																	129007710		2203	4300	6503	SO:0001583	missense	56941			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.197C>T	3.37:g.129007710C>T	ENSP00000372955:p.Ser66Phe		A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	pfam_DUF159	p.S66F	ENST00000383463.4	37	c.197	CCDS33852.1	3	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664139	0.67700	.	.	ENSG00000183624	ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735;ENST00000509551	.	.	.	5.12	4.21	0.49690	.	0.114969	0.64402	D	0.000009	T	0.79125	0.4393	M	0.82923	2.615	0.44201	D	0.997029	D;D	0.89917	0.999;1.0	D;D	0.76071	0.949;0.987	T	0.81994	-0.0677	9	0.62326	D	0.03	-20.5612	13.4892	0.61384	0.0:0.8431:0.1569:0.0	.	66;66	E7EMP6;Q96FZ2	.;CC037_HUMAN	F	66	.	ENSP00000372955:S66F	S	+	2	0	C3orf37	130490400	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	2.988000	0.49386	2.392000	0.81423	0.591000	0.81541	TCT	C3orf37	-	pfam_DUF159		0.413	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf37	HGNC	protein_coding	OTTHUMT00000355470.2	C	NM_020187		129007710	1	no_errors	ENST00000383463	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129007710	C	T	129007710	3	4	164	1	0	0	0	0	1	0	0	0	2232	913	32	1	203	1	C3orf37	3	129007710	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10386189	129007710	69014720	185	30973	196	2								
C3orf37	56941	genome.wustl.edu	37	chr3	129007720	129007720	+	Silent	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcagactcatctgagcgtatCattgctcccatgcgctgggg							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:129007720C>T	ENST00000383463.4	+	3	296	c.207C>T	c.(205-207)atC>atT	p.I69I	HMCES_ENST00000389735.3_Silent_p.I69I|HMCES_ENST00000417226.2_Silent_p.I69I|HMCES_ENST00000502878.2_Silent_p.I69I	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	69							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CTGAGCGTATCATTGCTCCCA	0.418																																																	0													118	103	108					3																	129007720		2203	4300	6503	SO:0001819	synonymous_variant	56941			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.207C>T	3.37:g.129007720C>T			A6NJR9|Q96G34|Q9NRP3	Silent	SNP	pfam_DUF159	p.I69	ENST00000383463.4	37	c.207	CCDS33852.1	3																																																																																			C3orf37	-	pfam_DUF159		0.418	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf37	HGNC	protein_coding	OTTHUMT00000355470.2	C	NM_020187		129007720	1	no_errors	ENST00000383463	ensembl	human	known	70_37	silent	SNP	0.705	T	T	129007720	C	T	129007720	2	4	164	1	0	0	0	0	0	0	0	1	2232	816	29	1		1	C3orf37	3	129007720	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10	129007720	69014710	186	30974	196	2								
IFT122	55764	genome.wustl.edu	37	chr3	129200465	129200465	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gacatgagtgcctcccgtaaGaagctggccgtggtagatga	14	9	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:129200465G>C	ENST00000348417.2	+	14	1658	c.1581G>C	c.(1579-1581)aaG>aaC	p.K527N	IFT122_ENST00000504021.1_Missense_Mutation_p.K421N|IFT122_ENST00000347300.2_Missense_Mutation_p.K468N|IFT122_ENST00000296266.3_Missense_Mutation_p.K578N|IFT122_ENST00000431818.2_Missense_Mutation_p.K377N|IFT122_ENST00000349441.2_Missense_Mutation_p.K416N|IFT122_ENST00000507564.1_Missense_Mutation_p.K519N|IFT122_ENST00000440957.2_Missense_Mutation_p.K318N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	527					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCTCCCGTAAGAAGCTGGCCG	0.537																																																	0													36	36	36					3																	129200465		2202	4280	6482	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1581G>C	3.37:g.129200465G>C	ENSP00000324005:p.Lys527Asn		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K578N	ENST00000348417.2	37	c.1734	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	G	4.201	0.036037	0.08148	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522	T;T;T;D;T;T;T;D;T	0.90324	3.34;0.74;0.74;-2.65;1.58;1.58;0.74;-2.65;0.75	5.5	0.701	0.18104	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.212986	0.47852	N	0.000220	T	0.72269	0.3439	N	0.05259	-0.085	0.28083	N	0.932114	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.001;0.001;0.0;0.001	T	0.58869	-0.7560	10	0.08599	T	0.76	-22.1842	4.9112	0.13823	0.1237:0.6254:0.13:0.1209	.	318;519;421;367;416;468;527;578	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;IF122_HUMAN;.	N	468;578;519;468;377;421;416;527;367;318;42	ENSP00000323973:K468N;ENSP00000296266:K578N;ENSP00000425536:K519N;ENSP00000410946:K377N;ENSP00000422179:K421N;ENSP00000324165:K416N;ENSP00000324005:K527N;ENSP00000401569:K318N;ENSP00000424727:K42N	ENSP00000296266:K578N	K	+	3	2	IFT122	130683155	0.937000	0.31787	0.998000	0.56505	0.980000	0.70556	0.045000	0.14013	0.188000	0.20168	-0.353000	0.07706	AAG	IFT122	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.537	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	G	NM_018262		129200465	1	no_errors	ENST00000296266	ensembl	human	known	70_37	missense	SNP	1.000	C	C	129200465	G	C	129200465	3	2	164	1	0	0	0	0	1	0	0	0	7575	933	33	1	1792	1	IFT122	3	129200465	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	192745	129200465	68821965	187	30975										
EPHB1	2047	genome.wustl.edu	37	chr3	134670464	134670464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctgtcattgccaccaagaaGtcagccttctggtctgaggc	10	12	5	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:134670464G>T	ENST00000398015.3	+	3	745	c.375G>T	c.(373-375)aaG>aaT	p.K125N	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	125	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCACCAAGAAGTCAGCCTTCT	0.517																																																	0													99	100	99					3																	134670464		2027	4226	6253	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.375G>T	3.37:g.134670464G>T	ENSP00000381097:p.Lys125Asn		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K125N	ENST00000398015.3	37	c.375	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	6.373	0.436877	0.12104	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000474732	T;T;T	0.03689	3.84;3.84;3.84	5.49	3.69	0.42338	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.172796	0.53938	D	0.000056	T	0.01695	0.0054	N	0.03608	-0.345	0.80722	D	1	B;B	0.21821	0.018;0.061	B;B	0.24394	0.018;0.053	T	0.52094	-0.8621	10	0.12103	T	0.63	.	6.8014	0.23754	0.1439:0.0:0.7123:0.1438	.	125;125	B5A969;P54762	.;EPHB1_HUMAN	N	103;125;103	ENSP00000417435:K103N;ENSP00000381097:K125N;ENSP00000418352:K103N	ENSP00000381097:K125N	K	+	3	2	EPHB1	136153154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.588000	0.36633	0.671000	0.31185	0.650000	0.86243	AAG	EPHB1	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.517	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	G	NM_004441		134670464	1	no_errors	ENST00000398015	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134670464	G	T	134670464	3	4	164	1	0	0	0	0	1	0	0	0	5186	1020	36	4	385	4	EPHB1	3	134670464	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5469999	134670464	63351966	188	30976										
PIK3CB	5291	genome.wustl.edu	37	chr3	138383904	138383904	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgtattctttaagccagttCagaagggcatctttgttgaa	9	6	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:138383904C>T	ENST00000477593.1	-	19	2719	c.2646G>A	c.(2644-2646)ctG>ctA	p.L882L	PIK3CB_ENST00000289153.2_Silent_p.L882L|PIK3CB_ENST00000544716.1_Silent_p.L333L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	882	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TAAGCCAGTTCAGAAGGGCAT	0.403																																																	0													82	78	79					3																	138383904		2203	4300	6503	SO:0001819	synonymous_variant	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2646G>A	3.37:g.138383904C>T			D3DNF0|Q24JU2	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L882	ENST00000477593.1	37	c.2646	CCDS3104.1	3																																																																																			PIK3CB	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.403	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	C			138383904	-1	no_errors	ENST00000289153	ensembl	human	known	70_37	silent	SNP	0.941	T	T	138383904	C	T	138383904	2	4	164	1	0	0	0	0	0	0	0	1	11938	813	29	1		1	PIK3CB	3	138383904	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3713440	138383904	59638526	189	30977										
ATR	545	genome.wustl.edu	37	chr3	142178163	142178163	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcggaatactttgagtttttCagataaagctgctgactttg	9	6	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:142178163C>T	ENST00000350721.4	-	43	7376	c.7255G>A	c.(7255-7257)Gaa>Aaa	p.E2419K	ATR_ENST00000383101.3_Missense_Mutation_p.E2355K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2419	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E2419K(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTGAGTTTTTCAGATAAAGCT	0.418								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	lung(1)											68	66	67					3																	142178163		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7255G>A	3.37:g.142178163C>T	ENSP00000343741:p.Glu2419Lys		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.E2419K	ENST00000350721.4	37	c.7255	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454718	0.43634	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03607	3.87;3.9	4.58	4.58	0.56647	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.03390	0.0098	N	0.11845	0.185	0.80722	D	1	B	0.31256	0.316	B	0.34489	0.184	T	0.61068	-0.7137	10	0.25751	T	0.34	-6.5998	17.7085	0.88315	0.0:1.0:0.0:0.0	.	2419	Q13535	ATR_HUMAN	K	2419;2355	ENSP00000343741:E2419K;ENSP00000372581:E2355K	ENSP00000343741:E2419K	E	-	1	0	ATR	143660853	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.957000	0.70323	2.265000	0.75225	0.491000	0.48974	GAA	ATR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.418	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	C	NM_001184		142178163	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142178163	C	T	142178163	3	4	164	1	0	0	0	0	1	0	0	0	1205	835	29	1	699	1	ATR	3	142178163	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3794259	142178163	55844267	190	30978										
ATR	545	genome.wustl.edu	37	chr3	142184050	142184050	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagccttttaaagaaatcttCtttggtttctgaagagaagc	9	6	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:142184050C>G	ENST00000350721.4	-	41	7051	c.6930G>C	c.(6928-6930)aaG>aaC	p.K2310N	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.K2246N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2310					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K2310N(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAGAAATCTTCTTTGGTTTCT	0.318								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	urinary_tract(1)											69	65	66					3																	142184050		2202	4296	6498	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6930G>C	3.37:g.142184050C>G	ENSP00000343741:p.Lys2310Asn		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.K2310N	ENST00000350721.4	37	c.6930	CCDS3124.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696274|3.696274	0.68386|0.68386	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|D;D	.|0.89343	.|-2.5;-2.5	5.22|5.22	4.14|4.14	0.48551|0.48551	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95245|0.95245	0.8458|0.8458	H|H	0.94423|0.94423	3.535|3.535	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.66602	.|0.945	D|D	0.95895|0.95895	0.8910|0.8910	5|10	.|0.87932	.|D	.|0	-2.2188|-2.2188	12.4896|12.4896	0.55893|0.55893	0.0:0.8668:0.0:0.1332|0.0:0.8668:0.0:0.1332	.|.	.|2310	.|Q13535	.|ATR_HUMAN	Q|N	157|2310;2246	.|ENSP00000343741:K2310N;ENSP00000372581:K2246N	.|ENSP00000343741:K2310N	E|K	-|-	1|3	0|2	ATR|ATR	143666740|143666740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.179000|3.179000	0.50887|0.50887	2.418000|2.418000	0.82041|0.82041	0.585000|0.585000	0.79938|0.79938	GAA|AAG	ATR	-	superfamily_Kinase-like_dom		0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	C	NM_001184		142184050	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	1.000	G	G	142184050	C	G	142184050	3	3	164	1	0	0	0	0	1	0	0	0	1205	912	32	1	1032	1	ATR	3	142184050	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5887	142184050	55838380	191	30979										
P2RY14	9934	genome.wustl.edu	37	chr3	150931786	150931786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccaaagaacacaatgctgaCgtacatgttgacgtagaaga	9	9	0	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:150931786C>T	ENST00000309170.3	-	3	631	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	107					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAATGCTGACGTACATGTTG	0.453																																																	0													74	64	67					3																	150931786		2203	4300	6503	SO:0001583	missense	9934			D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.319G>A	3.37:g.150931786C>T	ENSP00000308361:p.Val107Ile		Q8IYT7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_UDPG_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor	p.V107I	ENST00000309170.3	37	c.319	CCDS3156.1	3	.	.	.	.	.	.	.	.	.	.	C	5.579	0.291672	0.10567	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.72725	-0.68;-0.68	5.8	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.093881	0.42821	D	0.000657	T	0.41926	0.1180	N	0.03224	-0.385	0.31518	N	0.662732	B	0.27068	0.167	B	0.17722	0.019	T	0.43442	-0.9391	10	0.48119	T	0.1	-40.3576	5.5463	0.17065	0.0:0.7385:0.0:0.2615	.	107	Q15391	P2Y14_HUMAN	I	107	ENSP00000308361:V107I;ENSP00000408733:V107I	ENSP00000308361:V107I	V	-	1	0	P2RY14	152414476	0.171000	0.23029	0.984000	0.44739	0.976000	0.68499	1.005000	0.29834	2.732000	0.93576	0.650000	0.86243	GTC	P2RY14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor		0.453	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY14	HGNC	protein_coding	OTTHUMT00000357789.1	C	NM_014879		150931786	-1	no_errors	ENST00000309170	ensembl	human	known	70_37	missense	SNP	0.989	T	T	150931786	C	T	150931786	3	4	164	1	0	0	0	0	1	0	0	0	11375	536	19	2	701	2	P2RY14	3	150931786	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8747736	150931786	47090644	192	30980										
DHX36	170506	genome.wustl.edu	37	chr3	154006737	154006737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tactcagaaaataagcaattCcacctagccttaaaatctaa	3	10	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:154006737C>T	ENST00000496811.1	-	17	2029	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	DHX36_ENST00000544526.1_Missense_Mutation_p.G636E|DHX36_ENST00000329463.5_Missense_Mutation_p.G636E|DHX36_ENST00000308361.6_Missense_Mutation_p.G650E	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	650					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATAAGCAATTCCACCTAGCCT	0.353																																																	0													52	51	51					3																	154006737		2203	4300	6503	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1949G>A	3.37:g.154006737C>T	ENSP00000417078:p.Gly650Glu		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G650E	ENST00000496811.1	37	c.1949	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	C	7.951	0.744891	0.15710	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73	5.87	5.87	0.94306	.	0.152844	0.64402	D	0.000013	T	0.03053	0.0090	N	0.05306	-0.075	0.45005	D	0.998021	B;B;B	0.18968	0.032;0.006;0.019	B;B;B	0.17433	0.018;0.007;0.008	T	0.42599	-0.9442	10	0.06365	T	0.9	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	636;650;650	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	E	650;650;636;636;564	ENSP00000417078:G650E;ENSP00000309296:G650E;ENSP00000444247:G636E;ENSP00000330113:G636E;ENSP00000419862:G564E	ENSP00000309296:G650E	G	-	2	0	DHX36	155489431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.721000	0.61951	2.785000	0.95823	0.655000	0.94253	GGA	DHX36	-	NULL		0.353	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	C	NM_020865		154006737	-1	no_errors	ENST00000496811	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154006737	C	T	154006737	3	4	164	1	0	0	0	0	1	0	0	0	4519	855	30	1	1113	1	DHX36	3	154006737	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3074951	154006737	44015693	193	30981										
PLCH1	23007	genome.wustl.edu	37	chr3	155200421	155200421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcggcccttacccctattacCttccaggttcttaatttcta	4	14	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:155200421C>T	ENST00000340059.7	-	23	3417	c.3418G>A	c.(3418-3420)Ggt>Agt	p.G1140S	PLCH1_ENST00000460012.1_Missense_Mutation_p.G1102S|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1102S|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1102S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1140					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCCCTATTACCTTCCAGGTTC	0.448																																																	0													73	66	68					3																	155200421		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3418G>A	3.37:g.155200421C>T	ENSP00000345988:p.Gly1140Ser		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G1140S	ENST00000340059.7	37	c.3418	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384754	0.42308	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.57	4.7	0.59300	.	1.350270	0.04190	N	0.328118	T	0.40247	0.1109	L	0.32530	0.975	0.09310	N	1	P;P	0.42296	0.775;0.666	B;B	0.39660	0.306;0.252	T	0.30090	-0.9990	10	0.49607	T	0.09	.	5.5818	0.17254	0.1696:0.6676:0.0:0.1628	.	1102;1140	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	S	1102;1140;1102;1102	ENSP00000417502:G1102S;ENSP00000345988:G1140S;ENSP00000335469:G1102S;ENSP00000412977:G1102S	ENSP00000335469:G1102S	G	-	1	0	PLCH1	156683115	0.000000	0.05858	0.002000	0.10522	0.055000	0.15305	0.326000	0.19646	1.356000	0.45884	0.591000	0.81541	GGT	PLCH1	-	NULL		0.448	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155200421	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.001	T	T	155200421	C	T	155200421	3	4	164	1	0	0	0	0	1	0	0	0	12061	681	24	4	1667	4	PLCH1	3	155200421	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1193684	155200421	42822009	194	30982										
PLCH1	23007	genome.wustl.edu	37	chr3	155203219	155203219	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acaaagctcccagaaggtttCtgtcaacaggcatagagaca	9	10	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:155203219C>T	ENST00000340059.7	-	22	2923	c.2924G>A	c.(2923-2925)aGa>aAa	p.R975K	PLCH1_ENST00000460012.1_Missense_Mutation_p.R937K|PLCH1_ENST00000414191.1_Missense_Mutation_p.R937K|PLCH1_ENST00000494598.1_Missense_Mutation_p.R955K|PLCH1_ENST00000447496.2_Missense_Mutation_p.R975K|PLCH1_ENST00000334686.6_Missense_Mutation_p.R937K|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	975					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAAGGTTTCTGTCAACAGG	0.468																																																	0													126	123	124					3																	155203219		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2924G>A	3.37:g.155203219C>T	ENSP00000345988:p.Arg975Lys		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R975K	ENST00000340059.7	37	c.2924	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	2.875	-0.233048	0.05983	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.27104	2.24;2.38;1.69;2.38;2.38;2.38	5.88	-5.06	0.02946	.	1.635140	0.03042	N	0.153471	T	0.08133	0.0203	N	0.00823	-1.155	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.47142	-0.9140	10	0.02654	T	1	.	15.4002	0.74834	0.0:0.5627:0.0:0.4373	.	937;975;975	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	K	955;937;975;975;937;937	ENSP00000419100:R955K;ENSP00000417502:R937K;ENSP00000402759:R975K;ENSP00000345988:R975K;ENSP00000335469:R937K;ENSP00000412977:R937K	ENSP00000335469:R937K	R	-	2	0	PLCH1	156685913	0.007000	0.16637	0.001000	0.08648	0.781000	0.44180	0.017000	0.13399	-1.243000	0.02519	-0.345000	0.07892	AGA	PLCH1	-	NULL		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155203219	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.007	T	T	155203219	C	T	155203219	3	4	164	1	0	0	0	0	1	0	0	0	12061	913	32	1	2180	1	PLCH1	3	155203219	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2798	155203219	42819211	195	30983										
TNFSF10	8743	genome.wustl.edu	37	chr3	172229441	172229441	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atggtttcctcagaggttctCaaaatcatctgcaaatatta	6	8	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:172229441C>G	ENST00000241261.2	-	3	401	c.279G>C	c.(277-279)ttG>ttC	p.L93F	TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	93					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGAGGTTCTCAAAATCATCT	0.313																																																	0													63	66	65					3																	172229441		2203	4299	6502	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.279G>C	3.37:g.172229441C>G	ENSP00000241261:p.Leu93Phe		A1Y9B3	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF	p.L93F	ENST00000241261.2	37	c.279	CCDS3219.1	3	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501518	0.44455	.	.	ENSG00000121858	ENST00000241261	D	0.87729	-2.29	5.03	5.03	0.67393	.	0.289149	0.34484	N	0.003928	D	0.90345	0.6979	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.89982	0.4101	10	0.56958	D	0.05	-18.1307	9.27	0.37666	0.0:0.8956:0.0:0.1044	.	93	P50591	TNF10_HUMAN	F	93	ENSP00000241261:L93F	ENSP00000241261:L93F	L	-	3	2	TNFSF10	173712135	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	0.848000	0.27710	2.487000	0.83934	0.563000	0.77884	TTG	TNFSF10	-	pirsf_TNF_ligand_10/11		0.313	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF10	HGNC	protein_coding	OTTHUMT00000346601.1	C			172229441	-1	no_errors	ENST00000241261	ensembl	human	known	70_37	missense	SNP	1.000	G	G	172229441	C	G	172229441	3	3	164	1	0	0	0	0	1	0	0	0	16331	825	29	1	578	1	TNFSF10	3	172229441	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	17026222	172229441	25792989	196	30984										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	164	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6706650	178936091	19086339	197	30985										
DGKG	1608	genome.wustl.edu	37	chr3	186006655	186006655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcagctggtgcttgcttctCagccatatttgattctgcga	9	10	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:186006655C>T	ENST00000265022.3	-	6	927	c.388G>A	c.(388-390)Gag>Aag	p.E130K	DGKG_ENST00000344484.4_Missense_Mutation_p.E130K|DGKG_ENST00000382164.4_Missense_Mutation_p.E130K|DGKG_ENST00000544847.1_Missense_Mutation_p.E130K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	130					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCTTGCTTCTCAGCCATATTT	0.483																																																	0													125	132	129					3																	186006655		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.388G>A	3.37:g.186006655C>T	ENSP00000265022:p.Glu130Lys		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E130K	ENST00000265022.3	37	c.388	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	9.169	1.020765	0.19433	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.74	-2.38	0.06622	.	2.212010	0.01588	N	0.021415	T	0.17323	0.0416	N	0.02916	-0.46	0.24595	N	0.993802	B;B;B;B	0.11235	0.0;0.001;0.004;0.0	B;B;B;B	0.09377	0.001;0.004;0.004;0.002	T	0.08066	-1.0740	10	0.26408	T	0.33	.	2.3154	0.04197	0.116:0.3926:0.1137:0.3778	.	130;130;130;130	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	K	130;130;130;130;133	ENSP00000265022:E130K;ENSP00000339777:E130K;ENSP00000371599:E130K;ENSP00000440507:E130K	ENSP00000265022:E130K	E	-	1	0	DGKG	187489349	0.027000	0.19231	0.009000	0.14445	0.000000	0.00434	0.089000	0.15002	-0.322000	0.08615	-0.997000	0.02515	GAG	DGKG	-	NULL		0.483	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	C			186006655	-1	no_errors	ENST00000265022	ensembl	human	known	70_37	missense	SNP	0.026	T	T	186006655	C	T	186006655	3	4	164	1	0	0	0	0	1	0	0	0	4479	835	29	1	2067	1	DGKG	3	186006655	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	7070564	186006655	12015775	198	30986										
KNG1	3827	genome.wustl.edu	37	chr3	186456902	186456902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttcaggtggtggctggcaaGaaatattttattgacttcgt	11	5	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:186456902G>A	ENST00000265023.4	+	8	1157	c.945G>A	c.(943-945)aaG>aaA	p.K315K	KNG1_ENST00000287611.2_Silent_p.K315K|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Silent_p.K279K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	315	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGGCTGGCAAGAAATATTTTA	0.348																																																	0													61	64	63					3																	186456902		2203	4300	6503	SO:0001819	synonymous_variant	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.945G>A	3.37:g.186456902G>A			A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.K315	ENST00000265023.4	37	c.945	CCDS43183.1	3																																																																																			KNG1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.348	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	HGNC	protein_coding	OTTHUMT00000317738.1	G	NM_001102416		186456902	1	no_errors	ENST00000265023	ensembl	human	known	70_37	silent	SNP	0.000	A	A	186456902	G	A	186456902	2	1	164	1	0	0	0	0	0	0	0	1	8447	933	33	1		1	KNG1	3	186456902	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	450247	186456902	11565528	199	30987										
C3orf59	151963	genome.wustl.edu	37	chr3	192516720	192516720	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gatgatggctttgcaggcctGataggcctgcatgaggctgc	15	9	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:192516720G>A	ENST00000392452.2	-	2	1251	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																																	2	Substitution - Missense(2)	lung(2)											34	35	34					3																	192516720		2203	4300	6503	SO:0001587	stop_gained	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>T	3.37:g.192516720G>A	ENSP00000376246:p.Gln311*		Q86VD8	Nonsense_Mutation	SNP	pfam_Mab-21_dom	p.Q311*	ENST00000392452.2	37	c.931	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	38	6.850684	0.97885	.	.	ENSG00000180611	ENST00000392452	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	.	.	.	X	311	.	ENSP00000376246:Q311X	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	G	NM_178496		192516720	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	192516720	G	A	192516720	4	1	164	1	0	0	0	0	0	1	0	0	2242	1299	45	1	548	1	C3orf59	3	192516720	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6059818	192516720	5505710	200	30988										
ATP13A5	344905	genome.wustl.edu	37	chr3	193081033	193081033	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caagtaacttacttttaattCtggctttattaaggcttggt	7	6	1	0	rs139502900		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:193081033C>G	ENST00000342358.4	-	3	493	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	126						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACTTTTAATTCTGGCTTTATT	0.378																																																	0													106	103	104					3																	193081033		2203	4300	6503	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.376G>C	3.37:g.193081033C>G	ENSP00000341942:p.Glu126Gln		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E126Q	ENST00000342358.4	37	c.376	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644462	0.29246	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.34667	1.35;1.35	5.12	5.12	0.69794	.	0.166824	0.42294	D	0.000731	T	0.29556	0.0737	L	0.34521	1.04	0.38137	D	0.938339	B	0.32382	0.368	B	0.38327	0.271	T	0.08411	-1.0723	10	0.13470	T	0.59	-20.1453	12.61	0.56546	0.0:0.8325:0.1675:0.0	.	126	Q4VNC0	AT135_HUMAN	Q	126;148	ENSP00000341942:E126Q;ENSP00000389416:E148Q	ENSP00000341942:E126Q	E	-	1	0	ATP13A5	194563727	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	1.776000	0.38594	2.770000	0.95276	0.650000	0.86243	GAA	ATP13A5	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.378	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	C	NM_198505		193081033	-1	no_errors	ENST00000342358	ensembl	human	known	70_37	missense	SNP	1.000	G	G	193081033	C	G	193081033	3	3	164	1	0	0	0	0	1	0	0	0	1128	922	32	1	3390	1	ATP13A5	3	193081033	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	564313	193081033	4941397	201	30989										
CPN2	1370	genome.wustl.edu	37	chr3	194062052	194062052	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgccccctgccttgctttcGtccggccacgtgacctggaa	10	17	0	1	rs369348669		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:194062052G>C	ENST00000323830.3	-	2	1469	c.1380C>G	c.(1378-1380)gaC>gaG	p.D460E	CPN2_ENST00000429275.1_Missense_Mutation_p.D460E	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	460					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCTTGCTTTCGTCCGGCCACG	0.657																																																	0													65	68	67					3																	194062052		2203	4300	6503	SO:0001583	missense	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1380C>G	3.37:g.194062052G>C	ENSP00000319464:p.Asp460Glu		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D460E	ENST00000323830.3	37	c.1380	CCDS33920.1	3	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.227018	0.01518	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.51325	0.71;0.71	5.0	-8.44	0.00950	.	0.474665	0.15651	N	0.251396	T	0.14830	0.0358	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34650	-0.9820	10	0.02654	T	1	.	9.9226	0.41472	0.614:0.2448:0.1412:0.0	.	460	P22792	CPN2_HUMAN	E	460	ENSP00000319464:D460E;ENSP00000402232:D460E	ENSP00000319464:D460E	D	-	3	2	CPN2	195543747	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.316000	0.00515	-1.499000	0.01821	-1.608000	0.00805	GAC	CPN2	-	NULL		0.657	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN2	HGNC	protein_coding	OTTHUMT00000342856.2	G	NM_001080513		194062052	-1	no_errors	ENST00000323830	ensembl	human	known	70_37	missense	SNP	0.000	C	C	194062052	G	C	194062052	3	2	164	1	0	0	0	0	1	0	0	0	3815	1136	40	2	261	2	CPN2	3	194062052	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	981019	194062052	3960378	202	30990										
TCTEX1D2	255758	genome.wustl.edu	37	chr3	196044975	196044975	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccctgcgttcttctcagcctCaggcaccccgtcgcccaccg	8	21	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:196044975C>T	ENST00000325318.5	-	1	184	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.E17K|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Intron	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	17										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTCTCAGCCTCAGGCACCCCG	0.662																																																	0													42	40	40					3																	196044975		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.49G>A	3.37:g.196044975C>T	ENSP00000324323:p.Glu17Lys		A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.E17K	ENST00000325318.5	37	c.49	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858032	0.71834	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.24538	1.85	4.84	4.84	0.62591	.	1.253610	0.06809	U	0.789988	T	0.21267	0.0512	L	0.29908	0.895	0.80722	D	1	B	0.30482	0.281	B	0.27608	0.081	T	0.03148	-1.1067	10	0.16420	T	0.52	-10.8398	13.2904	0.60269	0.0:1.0:0.0:0.0	.	17	Q8WW35	TC1D2_HUMAN	K	17	ENSP00000324323:E17K	ENSP00000324323:E17K	E	-	1	0	TCTEX1D2	197529372	0.189000	0.23263	0.019000	0.16419	0.008000	0.06430	3.497000	0.53295	2.495000	0.84180	0.561000	0.74099	GAG	TCTEX1D2	-	NULL		0.662	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	C	NM_152773		196044975	-1	no_errors	ENST00000325318	ensembl	human	known	70_37	missense	SNP	0.043	T	T	196044975	C	T	196044975	3	4	164	1	0	0	0	0	1	0	0	0	15750	835	29	1	399	1	TCTEX1D2	3	196044975	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1982923	196044975	1977455	203	30991										
DLG1	1739	genome.wustl.edu	37	chr3	197023292	197023292	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acttctgagctgtctgtcttCagtttggcttagttttgaac	9	8	4	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:197023292C>T	ENST00000419354.1	-	3	362	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	DLG1_ENST00000422288.1_Missense_Mutation_p.E26K|DLG1_ENST00000314062.3_Missense_Mutation_p.E26K|MIR4797_ENST00000577559.1_RNA|DLG1_ENST00000450955.1_Missense_Mutation_p.E26K|DLG1-AS1_ENST00000414529.1_RNA|DLG1_ENST00000346964.2_Missense_Mutation_p.E26K|DLG1-AS1_ENST00000430666.1_RNA|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000392382.2_Missense_Mutation_p.E26K|DLG1_ENST00000357674.4_Missense_Mutation_p.E26K|DLG1_ENST00000448528.2_Missense_Mutation_p.E26K			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	26	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGTCTGTCTTCAGTTTGGCTT	0.378																																																	0													172	171	171					3																	197023292		2203	4300	6503	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.76G>A	3.37:g.197023292C>T	ENSP00000407531:p.Glu26Lys		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E26K	ENST00000419354.1	37	c.76	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578252	0.86645	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000456699;ENST00000392380;ENST00000419553;ENST00000436682;ENST00000412364;ENST00000434148	T;T;T;T;T;T;T;T;T;T;T	0.44482	2.65;2.6;2.57;2.65;2.57;2.65;2.61;2.6;0.92;0.92;0.92	5.09	5.09	0.68999	L27 (2);L27-1 (1);	0.139195	0.45361	D	0.000370	T	0.38081	0.1027	L	0.48362	1.52	0.58432	D	0.999999	B;B;B;P	0.35272	0.449;0.027;0.183;0.493	B;B;B;B	0.32864	0.154;0.037;0.089;0.116	T	0.21759	-1.0236	10	0.40728	T	0.16	.	16.8014	0.85615	0.0:1.0:0.0:0.0	.	26;26;26;26	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	K	26	ENSP00000345731:E26K;ENSP00000350303:E26K;ENSP00000321087:E26K;ENSP00000407531:E26K;ENSP00000413238:E26K;ENSP00000391732:E26K;ENSP00000376187:E26K;ENSP00000411278:E26K;ENSP00000396474:E26K;ENSP00000376185:E26K;ENSP00000414189:E26K	ENSP00000321087:E26K	E	-	1	0	DLG1	198507689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.894000	0.56250	2.741000	0.93983	0.650000	0.86243	GAA	DLG1	-	pfam_L27_1,smart_L27,pirsf_M-assoc_guanylate_kinase,pfscan_L27		0.378	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	C	NM_004087		197023292	-1	no_errors	ENST00000346964	ensembl	human	known	70_37	missense	SNP	1.000	T	T	197023292	C	T	197023292	3	4	164	1	0	0	0	0	1	0	0	0	4564	835	29	1	2838	1	DLG1	3	197023292	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	978317	197023292	999138	204	30992										
KIAA0226	9711	genome.wustl.edu	37	chr3	197426070	197426070	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcccaaacctgcaatgggatCttcaactataatggtgatat	7	9	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:197426070C>T	ENST00000296343.5	-	7	1261				KIAA0226_ENST00000389665.5_Intron|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000273582.5_Missense_Mutation_p.D372N	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCAATGGGATCTTCAACTATA	0.468																																					Esophageal Squamous(3;167 355 3763 15924)												0													154	140	144					3																	197426070		692	1591	2283	SO:0001627	intron_variant	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1261+1413G>A	3.37:g.197426070C>T			Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.D372N	ENST00000296343.5	37	c.1114	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.72|17.72	3.458525|3.458525	0.63401|0.63401	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582|ENST00000413360	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	T|T	0.59155|0.59155	0.2173|0.2173	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.52283|0.52283	-0.8596|-0.8596	8|5	0.32370|.	T|.	0.25|.	.|.	19.5998|19.5998	0.95557|0.95557	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	265;372|.	Q5HYI6;Q92622-2|.	.;.|.	N|K	372|410	.|.	ENSP00000273582:D372N|.	D|R	-|-	1|2	0|0	KIAA0226|KIAA0226	198910467|198910467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.567000|7.567000	0.82357|0.82357	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	GAT|AGA	KIAA0226	-	NULL		0.468	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	C	XM_032901		197426070	-1	no_errors	ENST00000273582	ensembl	human	putative	70_37	missense	SNP	1.000	T	T	197426070	C	T	197426070	1	4	164	0	1	0	0	0	0	0	0	0	8182	913	32	1		1	KIAA0226	3	197426070	Intron	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	402778	197426070	596360	205	30993										
LMLN	89782	genome.wustl.edu	37	chr3	197701344	197701344	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctatgataaaagtgttgaaGagtaagtacaccattgtatt	8	4	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:197701344G>C	ENST00000330198.4	+	2	338	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	LMLN_ENST00000482695.1_Splice_Site_p.E54Q|LMLN_ENST00000332636.5_Splice_Site_p.E54Q|LMLN_ENST00000420910.2_Splice_Site_p.E106Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	106			E -> D (in dbSNP:rs7373165).		cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AAGTGTTGAAGAGTAAGTACA	0.299																																																	0													126	126	126					3																	197701344		2203	4298	6501	SO:0001630	splice_region_variant	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.317+1G>C	3.37:g.197701344G>C			B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.E106Q	ENST00000330198.4	37	c.316	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482818	0.26598	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.67	3.79	0.43588	.	0.259681	0.31233	N	0.008017	T	0.23572	0.0570	N	0.14661	0.345	0.25243	N	0.989731	B;B;B;B	0.18610	0.007;0.021;0.029;0.005	B;B;B;B	0.22152	0.038;0.017;0.02;0.022	T	0.17684	-1.0361	10	0.14252	T	0.57	-14.1482	10.1454	0.42760	0.0:0.0:0.8012:0.1988	.	106;54;106;54	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	Q	54;106;34;106;54	ENSP00000418324:E54Q;ENSP00000328829:E106Q;ENSP00000390872:E34Q;ENSP00000410926:E106Q;ENSP00000328611:E54Q	ENSP00000328829:E106Q	E	+	1	0	LMLN	199185741	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	4.618000	0.61211	1.183000	0.42943	0.585000	0.79938	GAG	LMLN	-	pfam_Peptidase_M8		0.299	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	G	NM_033029	Missense_Mutation	197701344	1	no_errors	ENST00000330198	ensembl	human	known	70_37	missense	SNP	0.997	C	C	197701344	G	C	197701344	5	2	164	1	0	0	0	0	0	0	1	0	8868	956	33	1	322	1	LMLN	3	197701344	Splice_Site	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	275274	197701344	321086	206	30994										
WHSC1	7468	genome.wustl.edu	37	chr4	1961446	1961446	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcaaagggtggggcctggtCgccaagagggacatcagaaa	17	8	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:1961446C>G	ENST00000382895.3	+	19	3665	c.3234C>G	c.(3232-3234)gtC>gtG	p.V1078V	WHSC1_ENST00000382891.5_Silent_p.V1078V|WHSC1_ENST00000382892.2_Silent_p.V1078V|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.V426V|WHSC1_ENST00000508803.1_Silent_p.V1078V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1078	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGCCTGGTCGCCAAGAGGG	0.542			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													84	80	81					4																	1961446		2203	4300	6503	SO:0001819	synonymous_variant	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3234C>G	4.37:g.1961446C>G			A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.V1078	ENST00000382895.3	37	c.3234	CCDS33940.1	4																																																																																			WHSC1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.542	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	C	NM_133330		1961446	1	no_errors	ENST00000382891	ensembl	human	known	70_37	silent	SNP	0.122	G	G	1961446	C	G	1961446	2	3	164	1	0	0	0	0	0	0	0	1	17393	871	31	1		1	WHSC1	4	1961446	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09		1961446	189192830	207	30995										
SH3TC1	54436	genome.wustl.edu	37	chr4	8211480	8211480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctgctgtgttgcagacgagGctcctcctgcccgcgtggct	13	15	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:8211480G>T	ENST00000245105.3	+	3	245	c.178G>T	c.(178-180)Gct>Tct	p.A60S	SH3TC1_ENST00000539824.1_5'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	60										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGCAGACGAGGCTCCTCCTGC	0.612																																					NSCLC(145;2298 2623 35616 37297)												0													41	40	40					4																	8211480		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.178G>T	4.37:g.8211480G>T	ENSP00000245105:p.Ala60Ser		Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.A60S	ENST00000245105.3	37	c.178	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	g	5.873	0.345141	0.11126	.	.	ENSG00000125089	ENST00000245105;ENST00000457650	T	0.79352	-1.26	2.32	0.567	0.17325	.	1.015500	0.07949	U	0.980628	T	0.62502	0.2433	L	0.36672	1.1	0.09310	N	0.999999	B	0.14012	0.009	B	0.16289	0.015	T	0.41016	-0.9532	10	0.13108	T	0.6	-0.0035	3.5896	0.07983	0.1576:0.2646:0.5779:0.0	.	60	Q8TE82	S3TC1_HUMAN	S	60	ENSP00000245105:A60S	ENSP00000245105:A60S	A	+	1	0	SH3TC1	8262380	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.190000	0.17057	0.119000	0.18210	-0.231000	0.12243	GCT	SH3TC1	-	NULL		0.612	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	G	NM_018986		8211480	1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	0.000	T	T	8211480	G	T	8211480	3	4	164	1	0	0	0	0	1	0	0	0	14291	1203	42	4	184	4	SH3TC1	4	8211480	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6250034	8211480	182942796	208	30996										
CPZ	8532	genome.wustl.edu	37	chr4	8603131	8603131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctgccagcccgccttcgacGccattgacatggcctggccc	10	18	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:8603131G>A	ENST00000360986.4	+	3	577	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	CPZ_ENST00000315782.6_Missense_Mutation_p.A124T|CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	135	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGCCTTCGACGCCATTGACAT	0.672																																																	0													27	30	29					4																	8603131		2200	4293	6493	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.403G>A	4.37:g.8603131G>A	ENSP00000354255:p.Ala135Thr		O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.A135T	ENST00000360986.4	37	c.403	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379017	0.82682	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.75260	-0.92;-0.92	3.41	3.41	0.39046	Frizzled domain (5);	0.138682	0.46758	D	0.000269	T	0.81206	0.4774	L	0.52206	1.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65773	0.924;0.938	D	0.84119	0.0405	10	0.87932	D	0	-29.003	14.9966	0.71436	0.0:0.0:1.0:0.0	.	124;135	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	135;124	ENSP00000354255:A135T;ENSP00000315074:A124T	ENSP00000315074:A124T	A	+	1	0	CPZ	8654031	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.590000	0.53979	1.714000	0.51371	0.561000	0.74099	GCC	CPZ	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.672	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	G	NM_003652		8603131	1	no_errors	ENST00000360986	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8603131	G	A	8603131	3	1	164	1	0	0	0	0	1	0	0	0	3844	1087	38	2	413	2	CPZ	4	8603131	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	391651	8603131	182551145	209	30997										
SLC34A2	10568	genome.wustl.edu	37	chr4	25677795	25677795	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcttcaacatctccggcatCttgctgtggtacccgatccc	7	15	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:25677795C>T	ENST00000382051.3	+	13	1547	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	SLC34A2_ENST00000504570.1_Silent_p.I498I|SLC34A2_ENST00000503434.1_Silent_p.I498I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	499					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTCCGGCATCTTGCTGTGGT	0.592			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													118	95	103					4																	25677795		2203	4300	6503	SO:0001819	synonymous_variant	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1497C>T	4.37:g.25677795C>T			A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.I499	ENST00000382051.3	37	c.1497	CCDS3435.1	4																																																																																			SLC34A2	-	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt		0.592	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	C	NM_006424		25677795	1	no_errors	ENST00000382051	ensembl	human	known	70_37	silent	SNP	0.403	T	T	25677795	C	T	25677795	2	4	164	1	0	0	0	0	0	0	0	1	14598	903	32	1		1	SLC34A2	4	25677795	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	17074664	25677795	165476481	210	30998										
ARAP2	116984	genome.wustl.edu	37	chr4	36230329	36230329	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggtgctaggattggtgatgaTggaacatacaagtcatttac	12	5	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:36230329T>C	ENST00000303965.4	-	2	1269	c.780A>G	c.(778-780)ccA>ccG	p.P260P		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	260					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTGGTGATGATGGAACATACA	0.403																																																	0													142	137	139					4																	36230329		2203	4300	6503	SO:0001819	synonymous_variant	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.780A>G	4.37:g.36230329T>C			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.P260	ENST00000303965.4	37	c.780	CCDS3441.1	4																																																																																			ARAP2	-	NULL		0.403	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	T	NM_015230		36230329	-1	no_errors	ENST00000303965	ensembl	human	known	70_37	silent	SNP	0.004	C	C	36230329	T	C	36230329	2	2	164	1	0	0	0	0	0	0	0	1	839	1451	51	5		5	ARAP2	4	36230329	Silent	SNP	T	TCGA-JX-A3Q0-01A-11D-A21Q-09	10552534	36230329	154923947	211	30999										
KLHL5	51088	genome.wustl.edu	37	chr4	39077739	39077739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtgtgatgtaattttagtcGctggtgatcgcagaattcca	11	6	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:39077739G>A	ENST00000504108.1	+	2	959	c.676G>A	c.(676-678)Gct>Act	p.A226T	KLHL5_ENST00000381930.3_Missense_Mutation_p.A226T|KLHL5_ENST00000359687.2_Missense_Mutation_p.A226T|KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000261425.3_Missense_Mutation_p.A180T|KLHL5_ENST00000508137.2_Missense_Mutation_p.A39T	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	226	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AATTTTAGTCGCTGGTGATCG	0.338																																																	0													70	69	70					4																	39077739		2203	4300	6503	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.676G>A	4.37:g.39077739G>A	ENSP00000423897:p.Ala226Thr		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A226T	ENST00000504108.1	37	c.676	CCDS33974.1	4	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979791	0.92982	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.13	5.13	0.70059	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.097896	0.64402	D	0.000001	D	0.82733	0.5101	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.935	D	0.84054	0.0371	10	0.62326	D	0.03	.	18.9314	0.92568	0.0:0.0:1.0:0.0	.	226;226	Q96PQ7;Q96PQ7-2	KLHL5_HUMAN;.	T	260;180;39;226;226;226	ENSP00000261425:A180T;ENSP00000423080:A39T;ENSP00000423897:A226T;ENSP00000352716:A226T;ENSP00000371355:A226T	ENSP00000261425:A180T	A	+	1	0	KLHL5	38754134	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.813000	0.99286	2.560000	0.86352	0.467000	0.42956	GCT	KLHL5	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.338	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	HGNC	protein_coding	OTTHUMT00000360604.1	G			39077739	1	no_errors	ENST00000359687	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39077739	G	A	39077739	3	1	164	1	0	0	0	0	1	0	0	0	8412	1087	38	2	682	2	KLHL5	4	39077739	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2847410	39077739	152076537	212	31000										
KLHL5	51088	genome.wustl.edu	37	chr4	39104955	39104955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccgtacaaatatgtggactcCagtagcaaatatgaatggga	10	7	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:39104955C>T	ENST00000504108.1	+	7	1770	c.1487C>T	c.(1486-1488)cCa>cTa	p.P496L	KLHL5_ENST00000381930.3_Missense_Mutation_p.P496L|KLHL5_ENST00000359687.2_Missense_Mutation_p.P496L|KLHL5_ENST00000261426.5_Missense_Mutation_p.P435L|KLHL5_ENST00000261425.3_Missense_Mutation_p.P450L|KLHL5_ENST00000508137.2_Missense_Mutation_p.P309L	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	496						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGTGGACTCCAGTAGCAAAT	0.378																																																	0													98	94	95					4																	39104955		2203	4300	6503	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1487C>T	4.37:g.39104955C>T	ENSP00000423897:p.Pro496Leu		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.P496L	ENST00000504108.1	37	c.1487	CCDS33974.1	4	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649169	0.29336	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.66	4.8	0.61643	Galactose oxidase, beta-propeller (1);	0.101210	0.64402	D	0.000001	T	0.63034	0.2477	N	0.11927	0.2	0.80722	D	1	B;P;B	0.34684	0.01;0.463;0.248	B;B;B	0.37422	0.01;0.247;0.249	T	0.60393	-0.7272	10	0.10111	T	0.7	.	16.7435	0.85466	0.0:0.8707:0.1293:0.0	.	435;496;496	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	L	530;450;309;496;496;496;435;90	ENSP00000261425:P450L;ENSP00000423080:P309L;ENSP00000423897:P496L;ENSP00000352716:P496L;ENSP00000371355:P496L;ENSP00000261426:P435L	ENSP00000261425:P450L	P	+	2	0	KLHL5	38781350	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	5.142000	0.64820	1.492000	0.48499	0.655000	0.94253	CCA	KLHL5	-	pfam_Kelch_1,smart_Kelch_1		0.378	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	HGNC	protein_coding	OTTHUMT00000360604.1	C			39104955	1	no_errors	ENST00000359687	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39104955	C	T	39104955	3	4	164	1	0	0	0	0	1	0	0	0	8412	594	21	4	1513	4	KLHL5	4	39104955	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	27216	39104955	152049321	213	31001										
RHOH	399	genome.wustl.edu	37	chr4	40245542	40245542	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccaggccaggagacgaaacaGaaggaggctcttctccatca	11	12	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:40245542G>C	ENST00000381799.5	+	3	1260	c.536G>C	c.(535-537)aGa>aCa	p.R179T	RHOH_ENST00000505618.1_Missense_Mutation_p.R179T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	179					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						AGACGAAACAGAAGGAGGCTC	0.527																																																	0													32	32	32					4																	40245542		2203	4300	6503	SO:0001583	missense	399			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"ras homolog gene family, member H"	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.536G>C	4.37:g.40245542G>C	ENSP00000371219:p.Arg179Thr			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R179T	ENST00000381799.5	37	c.536	CCDS3458.1	4	.	.	.	.	.	.	.	.	.	.	g	17.33	3.363437	0.61513	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.64991	-0.13;-0.13	6.03	6.03	0.97812	.	1.318270	0.05064	N	0.480348	T	0.72708	0.3494	N	0.17082	0.46	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.65084	-0.6254	10	0.46703	T	0.11	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	179	Q15669	RHOH_HUMAN	T	179	ENSP00000425010:R179T;ENSP00000371219:R179T	ENSP00000371219:R179T	R	+	2	0	RHOH	39921937	1.000000	0.71417	0.992000	0.48379	0.080000	0.17528	9.434000	0.97515	2.861000	0.98227	0.655000	0.94253	AGA	RHOH	-	NULL		0.527	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOH	HGNC	protein_coding	OTTHUMT00000216820.3	G	NM_004310		40245542	1	no_errors	ENST00000381799	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40245542	G	C	40245542	3	2	164	1	0	0	0	0	1	0	0	0	13370	942	33	1	538	1	RHOH	4	40245542	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1140587	40245542	150908734	214	31002										
SULT1B1	27284	genome.wustl.edu	37	chr4	70596298	70596298	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttaccaaaggattgtccttCatcacttcaaatgaggtgtg	8	8	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:70596298C>T	ENST00000310613.3	-	7	996	c.699G>A	c.(697-699)atG>atA	p.M233I		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	233					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATTGTCCTTCATCACTTCAA	0.368																																																	0													170	156	161					4																	70596298		2203	4299	6502	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.699G>A	4.37:g.70596298C>T	ENSP00000308770:p.Met233Ile		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.M233I	ENST00000310613.3	37	c.699	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054595	0.75960	.	.	ENSG00000173597	ENST00000310613	T	0.02525	4.26	4.09	4.09	0.47781	Sulfotransferase domain (1);	0.000000	0.56097	D	0.000037	T	0.23846	0.0577	H	0.96111	3.77	0.54753	D	0.999982	D	0.76494	0.999	D	0.91635	0.999	T	0.36553	-0.9743	10	0.87932	D	0	.	14.1779	0.65555	0.0:1.0:0.0:0.0	.	233	O43704	ST1B1_HUMAN	I	233	ENSP00000308770:M233I	ENSP00000308770:M233I	M	-	3	0	SULT1B1	70630887	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.749000	0.68704	2.006000	0.58801	0.467000	0.42956	ATG	SULT1B1	-	pfam_Sulfotransferase_dom		0.368	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	HGNC	protein_coding	OTTHUMT00000251563.2	C	NM_014465		70596298	-1	no_errors	ENST00000310613	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70596298	C	T	70596298	3	4	164	1	0	0	0	0	1	0	0	0	15406	826	29	1	199	1	SULT1B1	4	70596298	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	30350756	70596298	120557978	215	31003										
SCD5	79966	genome.wustl.edu	37	chr4	83719652	83719652	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atttcttccttggcgtcgcaGaaagggatcttccccgcgtc	10	13	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:83719652G>A	ENST00000319540.4	-	1	358	c.39C>T	c.(37-39)ttC>ttT	p.F13F	SCD5_ENST00000273908.4_Silent_p.F13F|SCD5_ENST00000282709.4_Silent_p.F13F	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	13					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGGCGTCGCAGAAAGGGATCT	0.736																																																	0													16	17	17					4																	83719652		2201	4291	6492	SO:0001819	synonymous_variant	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.39C>T	4.37:g.83719652G>A			B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.F13	ENST00000319540.4	37	c.39	CCDS34024.1	4																																																																																			SCD5	-	NULL		0.736	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	G	NM_024906		83719652	-1	no_errors	ENST00000319540	ensembl	human	known	70_37	silent	SNP	0.018	A	A	83719652	G	A	83719652	2	1	164	1	0	0	0	0	0	0	0	1	13917	933	33	1		1	SCD5	4	83719652	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	13123354	83719652	107434624	216	31004										
SEC31A	22872	genome.wustl.edu	37	chr4	83788337	83788337	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgtttctgtcttaaaccatCtgtgctacctcccatgatag	6	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:83788337C>G	ENST00000395310.2	-	9	1197	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	SEC31A_ENST00000432794.1_Missense_Mutation_p.D339H|SEC31A_ENST00000448323.1_Missense_Mutation_p.D339H|SEC31A_ENST00000264405.5_Missense_Mutation_p.D111H|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000326950.5_Missense_Mutation_p.D339H|SEC31A_ENST00000355196.2_Missense_Mutation_p.D339H|SEC31A_ENST00000505472.1_Missense_Mutation_p.D339H|SEC31A_ENST00000311785.7_Missense_Mutation_p.D339H|SEC31A_ENST00000500777.2_Missense_Mutation_p.D339H|SEC31A_ENST00000513858.1_Missense_Mutation_p.D339H|SEC31A_ENST00000508502.1_Missense_Mutation_p.D339H|SEC31A_ENST00000508479.1_Missense_Mutation_p.D339H|SEC31A_ENST00000348405.4_Missense_Mutation_p.D339H|SEC31A_ENST00000505984.1_Missense_Mutation_p.D339H|SEC31A_ENST00000509142.1_Missense_Mutation_p.D339H|SEC31A_ENST00000443462.2_Missense_Mutation_p.D334H	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	339	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTTAAACCATCTGTGCTACCT	0.378																																																	0													137	125	129					4																	83788337		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1015G>C	4.37:g.83788337C>G	ENSP00000378721:p.Asp339His		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D339H	ENST00000395310.2	37	c.1015	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166666	0.78339	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39406	1.33;1.2;2.34;2.34;1.21;2.23;2.34;1.33;1.21;1.08;1.2;2.35;2.34;3.21;2.34;2.25	5.54	5.54	0.83059	WD40-repeat-containing domain (1);	0.102150	0.64402	D	0.000003	T	0.62527	0.2435	M	0.65975	2.015	0.80722	D	1	P;P;D;D;P;B;D;D;P;D	0.69078	0.804;0.856;0.958;0.965;0.94;0.352;0.98;0.997;0.529;0.971	P;P;P;P;P;P;P;D;B;D	0.65010	0.664;0.526;0.799;0.681;0.77;0.482;0.891;0.931;0.396;0.919	T	0.56559	-0.7959	10	0.33141	T	0.24	-21.0709	19.8364	0.96659	0.0:1.0:0.0:0.0	.	334;339;339;339;339;339;339;339;339;111	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;.;SC31A_HUMAN;.	H	339;339;339;334;339;339;339;339;339;339;339;339;339;111;339;339	ENSP00000337602:D339H;ENSP00000426886:D339H;ENSP00000378721:D339H;ENSP00000408027:D334H;ENSP00000426569:D339H;ENSP00000407944:D339H;ENSP00000400926:D339H;ENSP00000325087:D339H;ENSP00000309070:D339H;ENSP00000421633:D339H;ENSP00000421464:D339H;ENSP00000424635:D339H;ENSP00000347329:D339H;ENSP00000264405:D111H;ENSP00000424451:D339H;ENSP00000425999:D339H	ENSP00000264405:D111H	D	-	1	0	SEC31A	84007361	1.000000	0.71417	0.998000	0.56505	0.767000	0.43475	5.069000	0.64370	2.765000	0.95021	0.573000	0.79308	GAT	SEC31A	-	pfscan_WD40_repeat_dom		0.378	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	C	NM_016211		83788337	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	G	G	83788337	C	G	83788337	3	3	164	1	0	0	0	0	1	0	0	0	14028	913	32	1	2723	1	SEC31A	4	83788337	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	68685	83788337	107365939	217	31005										
DDIT4L	115265	genome.wustl.edu	37	chr4	101108882	101108882	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcagtgagtaaagttttttCttaacaagtcgaaatcctga	7	6	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:101108882C>T	ENST00000273990.2	-	3	748	c.534G>A	c.(532-534)aaG>aaA	p.K178K	RP11-15B17.1_ENST00000515026.1_RNA|RP11-588P8.1_ENST00000515782.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	178					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AAAGTTTTTTCTTAACAAGTC	0.383																																																	0													60	66	64					4																	101108882		2203	4300	6503	SO:0001819	synonymous_variant	115265			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"regulated in development and DNA damage response 2", " similar to Smhs1 protein"	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.534G>A	4.37:g.101108882C>T			B2R7C3	Silent	SNP	pfam_RTP801-like	p.K178	ENST00000273990.2	37	c.534	CCDS34036.1	4																																																																																			DDIT4L	-	pfam_RTP801-like		0.383	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4L	HGNC	protein_coding	OTTHUMT00000363423.1	C	NM_145244		101108882	-1	no_errors	ENST00000273990	ensembl	human	known	70_37	silent	SNP	1.000	T	T	101108882	C	T	101108882	2	4	164	1	0	0	0	0	0	0	0	1	4337	912	32	1		1	DDIT4L	4	101108882	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	17320545	101108882	90045394	218	31006										
AGXT2L1	64850	genome.wustl.edu	37	chr4	109669261	109669261	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tccttgaaggtcttcattttCaattatatccaggacagcca	6	10	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:109669261C>G	ENST00000296486.3	-	9	1136	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	ETNPPL_ENST00000411864.2_Missense_Mutation_p.E322Q|ETNPPL_ENST00000512646.1_Missense_Mutation_p.E270Q|ETNPPL_ENST00000510706.1_Missense_Mutation_p.E288Q	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	328						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCTTCATTTTCAATTATATCC	0.348																																																	0													121	117	118					4																	109669261		2203	4300	6503	SO:0001583	missense	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.982G>C	4.37:g.109669261C>G	ENSP00000296486:p.Glu328Gln		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E328Q	ENST00000296486.3	37	c.982	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018815	0.75275	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.54	2.86	0.33363	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.270144	0.41605	D	0.000855	D	0.90445	0.7008	M	0.80028	2.48	0.44899	D	0.997912	B;B;P	0.41188	0.07;0.128;0.741	B;B;P	0.54590	0.141;0.197;0.756	D	0.87291	0.2299	9	.	.	.	-10.9782	7.1541	0.25626	0.0:0.691:0.1266:0.1823	.	270;322;328	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	Q	328;322;270;288	ENSP00000296486:E328Q;ENSP00000392269:E322Q;ENSP00000427065:E270Q;ENSP00000423240:E288Q	.	E	-	1	0	AGXT2L1	109888710	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	4.904000	0.63279	0.381000	0.24851	0.655000	0.94253	GAA	AGXT2L1	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom		0.348	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGXT2L1	HGNC	protein_coding	OTTHUMT00000363508.1	C	NM_031279		109669261	-1	no_errors	ENST00000296486	ensembl	human	known	70_37	missense	SNP	0.998	G	G	109669261	C	G	109669261	3	3	164	1	0	0	0	0	1	0	0	0	406	835	29	1	537	1	AGXT2L1	4	109669261	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8560379	109669261	81485015	219	31007										
COL25A1	84570	genome.wustl.edu	37	chr4	109783676	109783676	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctttgacccctttgggcctCtagttcctgattcaccttgt	7	14	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:109783676C>T	ENST00000399132.1	-	22	1708	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	COL25A1_ENST00000399126.1_Missense_Mutation_p.R393K|COL25A1_ENST00000399127.1_Intron	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTGGGCCTCTAGTTCCTGA	0.373																																																	0													254	237	242					4																	109783676		1816	4088	5904	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1178G>A	4.37:g.109783676C>T	ENSP00000382083:p.Arg393Lys			Missense_Mutation	SNP	pfam_Collagen	p.R393K	ENST00000399132.1	37	c.1178	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553530	0.65425	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399126;ENST00000443653	D;D	0.93189	-3.18;-3.18	5.62	5.62	0.85841	.	0.067052	0.64402	D	0.000018	D	0.91422	0.7293	N	0.02973	-0.45	0.39803	D	0.972596	D;D	0.57257	0.959;0.979	D;D	0.74023	0.937;0.982	D	0.91569	0.5270	9	.	.	.	-18.4858	19.6626	0.95878	0.0:1.0:0.0:0.0	.	393;393	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	K	393;395;374;393;323	ENSP00000382083:R393K;ENSP00000382077:R393K	.	R	-	2	0	COL25A1	110003125	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.643000	0.54374	2.635000	0.89317	0.650000	0.86243	AGA	COL25A1	-	pfam_Collagen		0.373	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	C	NM_032518		109783676	-1	no_errors	ENST00000399132	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109783676	C	T	109783676	3	4	164	1	0	0	0	0	1	0	0	0	3689	913	32	1	938	1	COL25A1	4	109783676	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	114415	109783676	81370600	220	31008										
FAT4	79633	genome.wustl.edu	37	chr4	126241223	126241223	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gacttttaccaagctacaatAtcagaatcagcagccaatct	5	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:126241223A>T	ENST00000394329.3	+	1	3670	c.3657A>T	c.(3655-3657)atA>atT	p.I1219I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1219	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGCTACAATATCAGAATCAG	0.358																																																	0													43	42	42					4																	126241223		1841	4089	5930	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3657A>T	4.37:g.126241223A>T			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I1219	ENST00000394329.3	37	c.3657	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.358	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	A	NM_024582		126241223	1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.995	T	T	126241223	A	T	126241223	2	4	164	1	0	0	0	0	0	0	0	1	5710	439	16	5		5	FAT4	4	126241223	Silent	SNP	A	TCGA-JX-A3Q0-01A-11D-A21Q-09	16457547	126241223	64913053	221	31009										
INPP4B	8821	genome.wustl.edu	37	chr4	143181669	143181669	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attcaaaaaaggtaagttatCttttccgctcacactttccg	5	10	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:143181669C>G	ENST00000513000.1	-	12	1097	c.664G>C	c.(664-666)Gat>Cat	p.D222H	INPP4B_ENST00000262992.4_Missense_Mutation_p.D222H|INPP4B_ENST00000508116.1_Missense_Mutation_p.D222H|INPP4B_ENST00000308502.4_Missense_Mutation_p.D222H|INPP4B_ENST00000509777.1_Missense_Mutation_p.D222H	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	222					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GGTAAGTTATCTTTTCCGCTC	0.294																																																	0													52	54	53					4																	143181669		2203	4300	6503	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.664G>C	4.37:g.143181669C>G	ENSP00000425487:p.Asp222His		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D222H	ENST00000513000.1	37	c.664	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075586	0.76415	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.52	5.52	0.82312	.	0.334050	0.29558	N	0.011815	T	0.44222	0.1283	L	0.38175	1.15	0.44309	D	0.997187	P;P	0.45212	0.853;0.776	P;P	0.52309	0.694;0.695	T	0.24870	-1.0148	10	0.51188	T	0.08	.	17.2219	0.86960	0.0:1.0:0.0:0.0	.	93;222	B7Z6T2;O15327	.;INP4B_HUMAN	H	222;222;222;93;222;222;37;37;222;93	ENSP00000425487:D222H;ENSP00000262992:D222H;ENSP00000308441:D222H;ENSP00000423954:D222H;ENSP00000422793:D222H;ENSP00000426207:D37H;ENSP00000427250:D222H;ENSP00000421065:D93H	ENSP00000262992:D222H	D	-	1	0	INPP4B	143401119	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	4.746000	0.62133	2.586000	0.87340	0.655000	0.94253	GAT	INPP4B	-	NULL		0.294	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	C	NM_003866		143181669	-1	no_errors	ENST00000509777	ensembl	human	known	70_37	missense	SNP	0.996	G	G	143181669	C	G	143181669	3	3	164	1	0	0	0	0	1	0	0	0	7773	913	32	1	2174	1	INPP4B	4	143181669	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	16940446	143181669	47972607	222	31010										
FHDC1	85462	genome.wustl.edu	37	chr4	153893649	153893649	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgaaactggatgaatgctttCagatatttagagatttctgt	9	4	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:153893649C>G	ENST00000511601.1	+	11	1527	c.1339C>G	c.(1339-1341)Cag>Gag	p.Q447E	FHDC1_ENST00000260008.3_Missense_Mutation_p.Q447E			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	447	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGAATGCTTTCAGATATTTAG	0.388																																																	0													108	111	110					4																	153893649		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1339C>G	4.37:g.153893649C>G	ENSP00000427567:p.Gln447Glu			Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.Q447E	ENST00000511601.1	37	c.1339	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327186	0.81690	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.15834	2.39;2.39	5.42	5.42	0.78866	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.463089	0.25851	N	0.027888	T	0.36799	0.0980	M	0.70275	2.135	0.44337	D	0.997229	D	0.58268	0.982	P	0.57283	0.817	T	0.03807	-1.1002	10	0.21540	T	0.41	.	19.2263	0.93819	0.0:1.0:0.0:0.0	.	447	Q9C0D6	FHDC1_HUMAN	E	447	ENSP00000427567:Q447E;ENSP00000260008:Q447E	ENSP00000260008:Q447E	Q	+	1	0	FHDC1	154113099	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.400000	0.59709	2.546000	0.85860	0.650000	0.86243	CAG	FHDC1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.388	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	C	NM_033393		153893649	1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153893649	C	G	153893649	3	3	164	1	0	0	0	0	1	0	0	0	5894	827	29	1	1377	1	FHDC1	4	153893649	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10711980	153893649	37260627	223	31011										
FHDC1	85462	genome.wustl.edu	37	chr4	153893681	153893681	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gatttctgtaccaaattcaaCaaagcagttaaggtacatct	6	8	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:153893681C>G	ENST00000511601.1	+	11	1559	c.1371C>G	c.(1369-1371)aaC>aaG	p.N457K	FHDC1_ENST00000260008.3_Missense_Mutation_p.N457K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	457	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCAAATTCAACAAAGCAGTTA	0.388																																																	0													114	116	115					4																	153893681		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1371C>G	4.37:g.153893681C>G	ENSP00000427567:p.Asn457Lys			Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.N457K	ENST00000511601.1	37	c.1371	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	C	3.732	-0.055298	0.07362	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.13538	2.58;2.58	5.42	4.46	0.54185	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.539042	0.21362	N	0.075793	T	0.09113	0.0225	N	0.25825	0.765	0.47862	D	0.999538	B	0.22800	0.075	B	0.26310	0.068	T	0.04307	-1.0961	10	0.02654	T	1	.	12.6777	0.56903	0.0:0.8899:0.0:0.1101	.	457	Q9C0D6	FHDC1_HUMAN	K	457	ENSP00000427567:N457K;ENSP00000260008:N457K	ENSP00000260008:N457K	N	+	3	2	FHDC1	154113131	0.998000	0.40836	1.000000	0.80357	0.920000	0.55202	0.590000	0.23954	2.546000	0.85860	0.650000	0.86243	AAC	FHDC1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.388	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	C	NM_033393		153893681	1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153893681	C	G	153893681	3	3	164	1	0	0	0	0	1	0	0	0	5894	477	17	4	1409	4	FHDC1	4	153893681	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	32	153893681	37260595	224	31012										
GUCY1B3	2983	genome.wustl.edu	37	chr4	156724850	156724850	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attcaccatgcacgatccatCtgccacctggccttggacat	7	15	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:156724850C>T	ENST00000264424.8	+	11	1570	c.1488C>T	c.(1486-1488)atC>atT	p.I496I	GUCY1B3_ENST00000502959.1_Silent_p.I518I|GUCY1B3_ENST00000503520.1_Silent_p.I463I|GUCY1B3_ENST00000505764.1_Silent_p.I476I|GUCY1B3_ENST00000505154.1_Silent_p.I428I|GUCY1B3_ENST00000507146.1_Silent_p.I471I|GUCY1B3_ENST00000513437.1_Silent_p.I428I	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	496	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CACGATCCATCTGCCACCTGG	0.418																																																	0													75	78	77					4																	156724850		1973	4173	6146	SO:0001819	synonymous_variant	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1488C>T	4.37:g.156724850C>T			B7Z426|Q86WY5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I496	ENST00000264424.8	37	c.1488	CCDS47154.1	4																																																																																			GUCY1B3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.418	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	C			156724850	1	no_errors	ENST00000264424	ensembl	human	known	70_37	silent	SNP	0.986	T	T	156724850	C	T	156724850	2	4	164	1	0	0	0	0	0	0	0	1	6915	903	32	1		1	GUCY1B3	4	156724850	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2831169	156724850	34429426	225	31013										
GRIA2	2891	genome.wustl.edu	37	chr4	158257849	158257849	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttgggatttttaatagtctCtggttttccttgggtgcctt	10	6	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:158257849C>T	ENST00000264426.9	+	11	2073	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	GRIA2_ENST00000393815.2_Silent_p.L551L|GRIA2_ENST00000507898.1_Silent_p.L551L|GRIA2_ENST00000449365.1_Silent_p.L551L|GRIA2_ENST00000296526.7_Silent_p.L598L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	598					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTAATAGTCTCTGGTTTTCCT	0.433																																																	0													133	136	135					4																	158257849		2203	4300	6503	SO:0001819	synonymous_variant	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1794C>T	4.37:g.158257849C>T			A8MT92|I6L997|Q96FP6	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L598	ENST00000264426.9	37	c.1794	CCDS43274.1	4																																																																																			GRIA2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.433	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	C			158257849	1	no_errors	ENST00000264426	ensembl	human	known	70_37	silent	SNP	1.000	T	T	158257849	C	T	158257849	2	4	164	1	0	0	0	0	0	0	0	1	6788	900	32	1		1	GRIA2	4	158257849	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1532999	158257849	32896427	226	31014										
TRIM61	391712	genome.wustl.edu	37	chr4	165890861	165890861	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtcaaaacctgattatgcttCttacacacatgcttctcttc	4	12	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:165890861C>G	ENST00000329314.5	-	3	906	c.294G>C	c.(292-294)aaG>aaC	p.K98N		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	98						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		GATTATGCTTCTTACACACAT	0.433																																																	0													6	7	7					4																	165890861		1681	3301	4982	SO:0001583	missense	391712				CCDS34093.1	4q32.3	2013-01-09	2011-01-25			ENSG00000183439		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24339	protein-coding gene	gene with protein product			"ring finger protein 35", "tripartite motif-containing 61"	RNF35			Standard	NM_001012414		Approved		uc003iqw.3	Q5EBN2		ENST00000329314.5:c.294G>C	4.37:g.165890861C>G	ENSP00000332288:p.Lys98Asn			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.K98N	ENST00000329314.5	37	c.294	CCDS34093.1	4	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422795	0.43020	.	.	ENSG00000183439	ENST00000329314	T	0.41400	1.0	3.22	-2.38	0.06622	Zinc finger, B-box (2);	.	.	.	.	T	0.44767	0.1309	L	0.61036	1.89	0.20638	N	0.999876	B	0.34255	0.445	P	0.44422	0.449	T	0.49744	-0.8907	9	0.39692	T	0.17	.	9.0083	0.36127	0.0:0.3578:0.0:0.6422	.	98	Q5EBN2	TRI61_HUMAN	N	98	ENSP00000332288:K98N	ENSP00000332288:K98N	K	-	3	2	TRIM61	166110311	0.000000	0.05858	0.010000	0.14722	0.329000	0.28539	-1.100000	0.03339	-0.762000	0.04664	0.580000	0.79431	AAG	TRIM61	-	pfam_Znf_B-box,pfscan_Znf_B-box		0.433	TRIM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM61	HGNC	protein_coding	OTTHUMT00000364331.1	C	XM_373038		165890861	-1	no_errors	ENST00000329314	ensembl	human	known	70_37	missense	SNP	0.833	G	G	165890861	C	G	165890861	3	3	164	1	0	0	0	0	1	0	0	0	16567	912	32	1	343	1	TRIM61	4	165890861	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	7633012	165890861	25263415	227	31015										
HPGD	3248	genome.wustl.edu	37	chr4	175413139	175413139	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgcttgaaatggagttgtatCatagtcttgaaaatgaattc	9	4	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:175413139C>G	ENST00000296522.6	-	7	1215	c.769G>C	c.(769-771)Gat>Cat	p.D257H	HPGD_ENST00000422112.2_Missense_Mutation_p.D189H|HPGD_ENST00000296521.7_3'UTR|HPGD_ENST00000541923.1_Missense_Mutation_p.D136H|HPGD_ENST00000542498.1_3'UTR|HPGD_ENST00000510901.1_Missense_Mutation_p.D136H	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	257					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		GGAGTTGTATCATAGTCTTGA	0.328																																																	0													165	165	165					4																	175413139		2202	4298	6500	SO:0001583	missense	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	5154	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 36C, member 1"	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.769G>C	4.37:g.175413139C>G	ENSP00000296522:p.Asp257His		B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.D257H	ENST00000296522.6	37	c.769	CCDS3821.1	4	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451254	0.43531	.	.	ENSG00000164120	ENST00000296522;ENST00000510901;ENST00000422112;ENST00000541923	D;D;T;D	0.87334	-2.24;-1.53;-1.45;-1.53	5.84	5.84	0.93424	.	0.640684	0.16644	N	0.205497	T	0.81847	0.4909	N	0.22421	0.69	0.80722	D	1	B;B;B	0.28026	0.198;0.198;0.162	B;B;B	0.33960	0.173;0.121;0.09	T	0.78605	-0.2139	10	0.49607	T	0.09	.	14.0108	0.64495	0.0:0.9269:0.0:0.0731	.	189;257;136	E7EV11;P15428;B4DU74	.;PGDH_HUMAN;.	H	257;136;189;136	ENSP00000296522:D257H;ENSP00000422418:D136H;ENSP00000398720:D189H;ENSP00000438017:D136H	ENSP00000296522:D257H	D	-	1	0	HPGD	175649714	0.966000	0.33281	0.996000	0.52242	0.652000	0.38707	3.348000	0.52209	2.763000	0.94921	0.655000	0.94253	GAT	HPGD	-	NULL		0.328	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	HGNC	protein_coding	OTTHUMT00000362228.3	C			175413139	-1	no_errors	ENST00000296522	ensembl	human	known	70_37	missense	SNP	0.998	G	G	175413139	C	G	175413139	3	3	164	1	0	0	0	0	1	0	0	0	7354	826	29	1	35	1	HPGD	4	175413139	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	9522278	175413139	15741137	228	31016										
FAT1	2195	genome.wustl.edu	37	chr4	187516863	187516863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cattgtcatcgcacgattcgGactggaaggagctcagagac	12	10	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:187516863G>A	ENST00000441802.2	-	26	13327	c.13118C>T	c.(13117-13119)tCc>tTc	p.S4373F	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4373					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCACGATTCGGACTGGAAGGA	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													120	123	122					4																	187516863		2052	4207	6259	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13118C>T	4.37:g.187516863G>A	ENSP00000406229:p.Ser4373Phe			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S4373F	ENST00000441802.2	37	c.13118	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	18.12	3.551986	0.65311	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509927	T	0.77098	-1.07	5.34	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90355	0.4369	10	0.87932	D	0	.	16.2588	0.82530	0.0:0.1326:0.8674:0.0	.	4373	Q14517	FAT1_HUMAN	F	4373;4375;31	ENSP00000406229:S4373F	ENSP00000260147:S4375F	S	-	2	0	FAT1	187753857	1.000000	0.71417	0.868000	0.34077	0.370000	0.29829	9.601000	0.98297	1.470000	0.48102	0.650000	0.86243	TCC	FAT1	-	NULL		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187516863	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	missense	SNP	1.000	A	A	187516863	G	A	187516863	3	1	164	1	0	0	0	0	1	0	0	0	5707	1174	41	1	656	1	FAT1	4	187516863	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	12103724	187516863	3637413	229	31017										
KIAA0947	23379	genome.wustl.edu	37	chr5	5464406	5464406	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcacagccactgtctccactGatatcgagttctagtccttc	6	14	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:5464406G>A	ENST00000296564.7	+	13	5181	c.4959G>A	c.(4957-4959)ctG>ctA	p.L1653L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1653	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGTCTCCACTGATATCGAGTT	0.562																																																	0													180	189	186					5																	5464406		2057	4204	6261	SO:0001819	synonymous_variant	23379																														ENST00000296564.7:c.4959G>A	5.37:g.5464406G>A			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	superfamily_Vitellinogen_superhlx	p.L1653	ENST00000296564.7	37	c.4959	CCDS47187.1	5																																																																																			KIAA0947	-	NULL		0.562	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5464406	1	no_errors	ENST00000296564	ensembl	human	known	70_37	silent	SNP	0.000	A	A	5464406	G	A	5464406	2	1	164	1	0	0	0	0	0	0	0	1	8222	1277	45	1		1	KIAA0947	5	5464406	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		5464406	175450854	230	31018										
TRIO	7204	genome.wustl.edu	37	chr5	14290885	14290885	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atccttctcagctaactcctGagtttgatggctgcctggaa	9	11	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:14290885G>A	ENST00000344204.4	+	5	625	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TRIO_ENST00000509967.2_Missense_Mutation_p.E152K|TRIO_ENST00000537187.1_Missense_Mutation_p.E201K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	201	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTAACTCCTGAGTTTGATGG	0.413																																																	0													78	75	76					5																	14290885		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.601G>A	5.37:g.14290885G>A	ENSP00000339299:p.Glu201Lys		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E201K	ENST00000344204.4	37	c.601	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375178	0.82682	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.63255	-0.03;-0.03;-0.03	5.32	5.32	0.75619	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.052239	0.85682	D	0.000000	T	0.74688	0.3749	M	0.85630	2.765	0.80722	D	1	P;P	0.40032	0.699;0.643	P;B	0.45753	0.492;0.245	T	0.79366	-0.1833	10	0.72032	D	0.01	.	19.0061	0.92851	0.0:0.0:1.0:0.0	.	152;201	F5H228;O75962	.;TRIO_HUMAN	K	201;201;152	ENSP00000339299:E201K;ENSP00000446348:E201K;ENSP00000445592:E152K	ENSP00000339299:E201K	E	+	1	0	TRIO	14343885	1.000000	0.71417	0.967000	0.41034	0.987000	0.75469	9.869000	0.99810	2.506000	0.84524	0.563000	0.77884	GAG	TRIO	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.413	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	G	NM_007118		14290885	1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14290885	G	A	14290885	3	1	164	1	0	0	0	0	1	0	0	0	16583	1291	45	1	619	1	TRIO	5	14290885	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8826479	14290885	166624375	231	31019										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33527310	33527310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcttagagttcttttgactTttggagcaaccgttgccttc	10	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:33527310T>C	ENST00000504830.1	-	24	5103	c.4768A>G	c.(4768-4770)Aag>Gag	p.K1590E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K1505E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1590					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTTGACTTTTGGAGCAAC	0.537										HNSCC(64;0.19)																																							0													258	235	243					5																	33527310		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4768A>G	5.37:g.33527310T>C	ENSP00000422554:p.Lys1590Glu		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K1590E	ENST00000504830.1	37	c.4768	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145579	0.37923	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59772	0.25;0.24	5.69	4.5	0.54988	.	0.963369	0.08562	N	0.927350	T	0.44371	0.1290	N	0.22421	0.69	0.20307	N	0.999918	B;B	0.22146	0.065;0.039	B;B	0.22601	0.04;0.011	T	0.32745	-0.9895	10	0.25751	T	0.34	.	9.7422	0.40424	0.0:0.0:0.1742:0.8258	.	1505;1590	P58397-3;P58397	.;ATS12_HUMAN	E	1590;1505	ENSP00000422554:K1590E;ENSP00000344847:K1505E	ENSP00000344847:K1505E	K	-	1	0	ADAMTS12	33563067	0.960000	0.32886	0.001000	0.08648	0.003000	0.03518	1.314000	0.33597	0.960000	0.38005	0.533000	0.62120	AAG	ADAMTS12	-	NULL		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	T	NM_030955		33527310	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.002	C	C	33527310	T	C	33527310	3	2	164	1	0	0	0	0	1	0	0	0	257	1850	64	5	20	5	ADAMTS12	5	33527310	Missense_Mutation	SNP	T	TCGA-JX-A3Q0-01A-11D-A21Q-09	19236425	33527310	147387950	232	31020										
UGT3A2	167127	genome.wustl.edu	37	chr5	36039690	36039690	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tatcaccccttggggtaggtGagcaaaggcattgttcatct	11	9	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:36039690G>A	ENST00000282507.3	-	5	1065	c.964C>T	c.(964-966)Cac>Tac	p.H322Y	UGT3A2_ENST00000513300.1_Missense_Mutation_p.H288Y|UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Missense_Mutation_p.H20Y	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	322					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGGTAGGTGAGCAAAGGCA	0.493																																																	0													144	131	135					5																	36039690		2203	4300	6503	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.964C>T	5.37:g.36039690G>A	ENSP00000282507:p.His322Tyr		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H322Y	ENST00000282507.3	37	c.964	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141475	0.37825	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.59502	0.26;0.26;0.26	3.18	0.284	0.15701	.	0.957017	0.08606	N	0.920780	T	0.62563	0.2438	M	0.64997	1.995	0.09310	N	1	P;D	0.54964	0.829;0.969	P;P	0.54026	0.625;0.74	T	0.51880	-0.8649	10	0.72032	D	0.01	.	5.6121	0.17410	0.1797:0.0:0.5524:0.2679	.	288;322	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Y	322;288;20	ENSP00000282507:H322Y;ENSP00000427404:H288Y;ENSP00000445367:H20Y	ENSP00000282507:H322Y	H	-	1	0	UGT3A2	36075447	0.000000	0.05858	0.001000	0.08648	0.174000	0.22865	-0.455000	0.06762	-0.193000	0.10415	-1.094000	0.02160	CAC	UGT3A2	-	pfam_UDP_glucos_trans		0.493	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	G	NM_174914		36039690	-1	no_errors	ENST00000282507	ensembl	human	known	70_37	missense	SNP	0.012	A	A	36039690	G	A	36039690	3	1	164	1	0	0	0	0	1	0	0	0	16995	1290	45	1	619	1	UGT3A2	5	36039690	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2512380	36039690	144875570	233	31021										
CARD6	84674	genome.wustl.edu	37	chr5	40853884	40853884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcgaatggaacatttgggaGactgccaagacccatttgtc	10	10	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:40853884G>A	ENST00000254691.5	+	3	2649	c.2450G>A	c.(2449-2451)aGa>aAa	p.R817K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	817					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACATTTGGGAGACTGCCAAGA	0.463																																																	0													247	259	255					5																	40853884		2203	4300	6503	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2450G>A	5.37:g.40853884G>A	ENSP00000254691:p.Arg817Lys		Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.R817K	ENST00000254691.5	37	c.2450	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510697	0.44660	.	.	ENSG00000132357	ENST00000254691	T	0.20200	2.09	5.03	3.22	0.36961	.	0.614342	0.15595	N	0.254188	T	0.15003	0.0362	L	0.32530	0.975	0.21220	N	0.999754	B	0.25235	0.121	B	0.17098	0.017	T	0.17077	-1.0381	10	0.42905	T	0.14	-3.1588	8.3091	0.32060	0.0868:0.1584:0.7548:0.0	.	817	Q9BX69	CARD6_HUMAN	K	817	ENSP00000254691:R817K	ENSP00000254691:R817K	R	+	2	0	CARD6	40889641	0.389000	0.25205	0.418000	0.26571	0.028000	0.11728	1.183000	0.32041	0.696000	0.31696	-0.502000	0.04539	AGA	CARD6	-	NULL		0.463	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	G			40853884	1	no_errors	ENST00000254691	ensembl	human	known	70_37	missense	SNP	0.053	A	A	40853884	G	A	40853884	3	1	164	1	0	0	0	0	1	0	0	0	2655	942	33	1	2460	1	CARD6	5	40853884	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4814194	40853884	140061376	234	31022										
C6	729	genome.wustl.edu	37	chr5	41201697	41201697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggtcacagtctgaccatggtCcaaaatctcccaggaggcag	11	12	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:41201697C>T	ENST00000263413.3	-	3	527	c.263G>A	c.(262-264)gGa>gAa	p.G88E	C6_ENST00000337836.5_Missense_Mutation_p.G88E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	88	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGACCATGGTCCAAAATCTCC	0.453																																																	0													95	91	92					5																	41201697		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.263G>A	5.37:g.41201697C>T	ENSP00000263413:p.Gly88Glu			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G88E	ENST00000263413.3	37	c.263	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370805	0.82573	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.21191	2.02;2.02;2.02	5.92	5.05	0.67936	.	0.201994	0.52532	D	0.000074	T	0.40448	0.1117	M	0.79926	2.475	0.47905	D	0.99954	P	0.41673	0.759	P	0.50659	0.647	T	0.19877	-1.0292	10	0.54805	T	0.06	-19.3551	14.371	0.66840	0.0:0.9267:0.0:0.0733	.	88	P13671	CO6_HUMAN	E	88	ENSP00000338861:G88E;ENSP00000263413:G88E;ENSP00000396565:G88E	ENSP00000263413:G88E	G	-	2	0	C6	41237454	0.999000	0.42202	0.987000	0.45799	0.843000	0.47879	4.488000	0.60300	2.809000	0.96659	0.655000	0.94253	GGA	C6	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.453	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	C			41201697	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41201697	C	T	41201697	3	4	164	1	0	0	0	0	1	0	0	0	2320	855	30	1	2605	1	C6	5	41201697	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	347813	41201697	139713563	235	31023										
GHR	2690	genome.wustl.edu	37	chr5	42718806	42718806	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gacattctggagactgatttCaatgccaatgacatacatga	8	8	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:42718806C>T	ENST00000230882.4	+	10	1387	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	GHR_ENST00000537449.1_Silent_p.F212F|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Silent_p.F377F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	399					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGACTGATTTCAATGCCAATG	0.458																																																	0													131	104	114					5																	42718806		2203	4300	6503	SO:0001819	synonymous_variant	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1197C>T	5.37:g.42718806C>T			Q9HCX2	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.F399	ENST00000230882.4	37	c.1197	CCDS3940.1	5																																																																																			GHR	-	NULL		0.458	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	C	NM_000163		42718806	1	no_errors	ENST00000230882	ensembl	human	known	70_37	silent	SNP	0.995	T	T	42718806	C	T	42718806	2	4	164	1	0	0	0	0	0	0	0	1	6390	825	29	1		1	GHR	5	42718806	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1517109	42718806	138196454	236	31024										
GHR	2690	genome.wustl.edu	37	chr5	42719029	42719029	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcaccaagctgcccatattCagctaagcaatccaagttca	5	14	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:42719029C>T	ENST00000230882.4	+	10	1610	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	GHR_ENST00000537449.1_Nonsense_Mutation_p.Q287*|GHR_ENST00000357703.3_Nonsense_Mutation_p.Q452*	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	474					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGCCCATATTCAGCTAAGCAA	0.493																																																	0													68	64	65					5																	42719029		2203	4300	6503	SO:0001587	stop_gained	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1420C>T	5.37:g.42719029C>T	ENSP00000230882:p.Gln474*		Q9HCX2	Nonsense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q474*	ENST00000230882.4	37	c.1420	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.763698	0.96906	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	.	.	.	5.98	5.98	0.97165	.	0.334797	0.36854	N	0.002375	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.2564	15.2005	0.73132	0.1408:0.8592:0.0:0.0	.	.	.	.	X	474;452;287	.	ENSP00000230882:Q474X	Q	+	1	0	GHR	42754786	1.000000	0.71417	0.849000	0.33467	0.987000	0.75469	4.713000	0.61895	2.838000	0.97847	0.591000	0.81541	CAG	GHR	-	NULL		0.493	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	C	NM_000163		42719029	1	no_errors	ENST00000230882	ensembl	human	known	70_37	nonsense	SNP	0.988	T	T	42719029	C	T	42719029	4	4	164	1	0	0	0	0	0	1	0	0	6390	827	29	1	1454	1	GHR	5	42719029	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	223	42719029	138196231	237	31025										
SLC38A9	153129	genome.wustl.edu	37	chr5	54948506	54948506	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cattggcatagaaaatcataGagctgttgtcaggatggcct	11	7	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:54948506G>C	ENST00000396865.2	-	10	1394	c.803C>G	c.(802-804)tCt>tGt	p.S268C	SLC38A9_ENST00000515629.1_Missense_Mutation_p.S205C|SLC38A9_ENST00000512595.1_Missense_Mutation_p.S241C|SLC38A9_ENST00000416547.2_Missense_Mutation_p.S144C|SLC38A9_ENST00000318672.3_Missense_Mutation_p.S268C|SLC38A9_ENST00000539768.1_Missense_Mutation_p.S268C	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	268					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GAAAATCATAGAGCTGTTGTC	0.448																																																	0													84	80	81					5																	54948506		2203	4300	6503	SO:0001583	missense	153129				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"Solute carriers"	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.803C>G	5.37:g.54948506G>C	ENSP00000380074:p.Ser268Cys		B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.S268C	ENST00000396865.2	37	c.803	CCDS3968.1	5	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905201	0.52333	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595	T;T;T;T;T;T	0.48836	1.83;1.83;0.8;1.85;1.85;1.36	5.4	5.4	0.78164	.	0.665589	0.15860	N	0.241092	T	0.56775	0.2008	L	0.60455	1.87	0.09310	N	1	D;D	0.65815	0.995;0.985	P;B	0.52758	0.708;0.43	T	0.53711	-0.8400	10	0.59425	D	0.04	-10.2749	13.8326	0.63391	0.0759:0.0:0.9241:0.0	.	241;268	B3KXV1;Q8NBW4	.;S38A9_HUMAN	C	268;268;268;205;144;241	ENSP00000380074:S268C;ENSP00000316596:S268C;ENSP00000437771:S268C;ENSP00000420934:S205C;ENSP00000397429:S144C;ENSP00000427335:S241C	ENSP00000316596:S268C	S	-	2	0	SLC38A9	54984263	0.487000	0.25988	0.577000	0.28562	0.760000	0.43138	1.816000	0.38992	2.687000	0.91594	0.563000	0.77884	TCT	SLC38A9	-	NULL		0.448	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	G	NM_173514		54948506	-1	no_errors	ENST00000318672	ensembl	human	known	70_37	missense	SNP	0.011	C	C	54948506	G	C	54948506	3	2	164	1	0	0	0	0	1	0	0	0	14641	942	33	1	910	1	SLC38A9	5	54948506	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	12229477	54948506	125966754	238	31026										
RAD17	5884	genome.wustl.edu	37	chr5	68680719	68680719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ataacaagttacaaatgcttGgagatgatctgagaactgat	9	5	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:68680719G>A	ENST00000509734.1	+	7	1315	c.637G>A	c.(637-639)Gga>Aga	p.G213R	RAD17_ENST00000354312.3_Missense_Mutation_p.G202R|RAD17_ENST00000282891.6_Missense_Mutation_p.G116R|RAD17_ENST00000358030.2_Missense_Mutation_p.G37R|RAD17_ENST00000345306.6_Missense_Mutation_p.G202R|RAD17_ENST00000380774.3_Missense_Mutation_p.G213R|RAD17_ENST00000361732.2_Missense_Mutation_p.G202R|RAD17_ENST00000305138.4_Missense_Mutation_p.G202R|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.G37R|RAD17_ENST00000354868.5_Missense_Mutation_p.G202R			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	213					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		ACAAATGCTTGGAGATGATCT	0.328								Other conserved DNA damage response genes																																									0													62	63	63					5																	68680719		2203	4299	6502	SO:0001583	missense	5884			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.637G>A	5.37:g.68680719G>A	ENSP00000426191:p.Gly213Arg		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	tigrfam_Checkpoint_prot_Rad24_fun/met	p.G213R	ENST00000509734.1	37	c.637	CCDS4003.1	5	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673161	0.88445	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000512785;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.05	5.05	0.67936	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.78165	-0.2310	10	0.66056	D	0.02	-20.5606	17.5415	0.87849	0.0:0.0:1.0:0.0	.	213;116;202	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	R	202;213;202;37;202;202;37;202;116;37;213	ENSP00000355226:G202R;ENSP00000426191:G213R;ENSP00000346938:G202R;ENSP00000427743:G37R;ENSP00000346271:G202R;ENSP00000311227:G202R;ENSP00000427673:G37R;ENSP00000303134:G202R;ENSP00000282891:G116R;ENSP00000350725:G37R;ENSP00000370151:G213R	ENSP00000282891:G116R	G	+	1	0	RAD17	68716475	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.953000	0.87836	2.512000	0.84698	0.305000	0.20034	GGA	RAD17	-	tigrfam_Checkpoint_prot_Rad24_fun/met		0.328	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	HGNC	protein_coding	OTTHUMT00000369171.1	G	NM_133344		68680719	1	no_errors	ENST00000380774	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68680719	G	A	68680719	3	1	164	1	0	0	0	0	1	0	0	0	13009	1349	47	4	668	4	RAD17	5	68680719	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	13732213	68680719	112234541	239	31027										
IQGAP2	10788	genome.wustl.edu	37	chr5	75757463	75757463	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcggcagaacattgcttatGaatatctgtgccacttagag	11	8	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:75757463G>A	ENST00000274364.6	+	2	412	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	39					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CATTGCTTATGAATATCTGTG	0.438																																																	0													143	116	125					5																	75757463		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.115G>A	5.37:g.75757463G>A	ENSP00000274364:p.Glu39Lys		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.E39K	ENST00000274364.6	37	c.115	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908957	0.92107	.	.	ENSG00000145703	ENST00000274364;ENST00000514350	T;T	0.45668	0.89;0.89	4.05	4.05	0.47172	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	P	0.54856	0.762	T	0.50931	-0.8769	10	0.87932	D	0	-17.7416	15.5184	0.75842	0.0:0.0:1.0:0.0	.	39	Q13576	IQGA2_HUMAN	K	39;12	ENSP00000274364:E39K;ENSP00000423672:E12K	ENSP00000274364:E39K	E	+	1	0	IQGAP2	75793219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.062000	0.93920	2.267000	0.75376	0.491000	0.48974	GAA	IQGAP2	-	superfamily_CH-domain		0.438	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	G	NM_006633		75757463	1	no_errors	ENST00000274364	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75757463	G	A	75757463	3	1	164	1	0	0	0	0	1	0	0	0	7835	1291	45	1	121	1	IQGAP2	5	75757463	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7076744	75757463	105157797	240	31028										
WDR41	55255	genome.wustl.edu	37	chr5	76736643	76736643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtatacattttttacctcttCatcacatgtgaaatgatgaa	5	7	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:76736643C>T	ENST00000296679.4	-	9	1252	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	WDR41_ENST00000414719.2_Missense_Mutation_p.E39K|WDR41_ENST00000507029.1_Missense_Mutation_p.E238K	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	293						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TTTACCTCTTCATCACATGTG	0.323																																																	0													91	91	91					5																	76736643		2203	4300	6503	SO:0001583	missense	55255			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.877G>A	5.37:g.76736643C>T	ENSP00000296679:p.Glu293Lys		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E293K	ENST00000296679.4	37	c.877	CCDS4038.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.089529|5.089529	0.94149|0.94149	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791|ENST00000511630	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.04;1.34|.	5.8|5.8	5.8|5.8	0.92144|0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.047473|.	0.85682|.	D|.	0.000000|.	T|T	0.74726|0.74726	0.3754|0.3754	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999984|0.999984	D;D;P|.	0.67145|.	0.996;0.996;0.799|.	P;P;B|.	0.60415|.	0.874;0.874;0.214|.	T|T	0.70967|0.70967	-0.4728|-0.4728	10|5	0.72032|.	D|.	0.01|.	-14.6222|-14.6222	20.0549|20.0549	0.97648|0.97648	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	238;39;293|.	B4DT55;B4E2L4;Q9HAD4|.	.;.;WDR41_HUMAN|.	K|I	293;39;228;238;64;85|118	ENSP00000296679:E293K;ENSP00000392931:E39K;ENSP00000426499:E228K;ENSP00000424287:E238K;ENSP00000427291:E64K;ENSP00000423540:E85K|.	ENSP00000296679:E293K|.	E|M	-|-	1|3	0|0	WDR41|WDR41	76772399|76772399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.185000|3.185000	0.50934|0.50934	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	GAA|ATG	WDR41	-	superfamily_WD40_repeat_dom		0.323	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	HGNC	protein_coding	OTTHUMT00000220014.2	C	NM_018268		76736643	-1	no_errors	ENST00000296679	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76736643	C	T	76736643	3	4	164	1	0	0	0	0	1	0	0	0	17325	835	29	1	522	1	WDR41	5	76736643	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	979180	76736643	104178617	241	31029										
JMY	133746	genome.wustl.edu	37	chr5	78586979	78586979	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgatcgaatgcgagctgatCagaagaaatttggtaaagca	11	5	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:78586979C>T	ENST00000396137.4	+	4	1846	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	462					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GCGAGCTGATCAGAAGAAATT	0.353																																																	0													73	69	70					5																	78586979		1849	4088	5937	SO:0001587	stop_gained	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1384C>T	5.37:g.78586979C>T	ENSP00000379441:p.Gln462*		A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	pfscan_WH2_dom	p.Q462*	ENST00000396137.4	37	c.1384	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	C	42	9.805208	0.99268	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.31	4.45	0.53987	.	0.143577	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	13.675	0.62449	0.0:0.9252:0.0:0.0748	.	.	.	.	X	462	.	ENSP00000282259:Q462X	Q	+	1	0	JMY	78622735	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.030000	0.76484	1.230000	0.43646	0.555000	0.69702	CAG	JMY	-	NULL		0.353	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	C	NM_152405		78586979	1	no_errors	ENST00000396137	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	78586979	C	T	78586979	4	4	164	1	0	0	0	0	0	1	0	0	7977	827	29	1	1398	1	JMY	5	78586979	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1850336	78586979	102328281	242	31030										
PAPD4	167153	genome.wustl.edu	37	chr5	78975427	78975427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atagtcaaatgatttcagttCgtgaagccaaagccattcca	7	9	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:78975427C>T	ENST00000296783.3	+	14	1533	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	PAPD4_ENST00000453514.1_Missense_Mutation_p.R412C|PAPD4_ENST00000423041.2_Missense_Mutation_p.R408C|PAPD4_ENST00000504233.1_Missense_Mutation_p.R369C|PAPD4_ENST00000428308.2_Missense_Mutation_p.R412C			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	412	PAP-associated.				hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GATTTCAGTTCGTGAAGCCAA	0.313																																																	0													111	102	105					5																	78975427		2203	4300	6503	SO:0001583	missense	167153			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1234C>T	5.37:g.78975427C>T	ENSP00000296783:p.Arg412Cys		Q86WZ2|Q8N927	Missense_Mutation	SNP	pfam_PAP_assoc	p.R412C	ENST00000296783.3	37	c.1234	CCDS4048.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804361	0.90623	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	6.06	6.06	0.98353	PAP/25A-associated (1);	0.181768	0.48286	D	0.000193	D	0.94175	0.8131	H	0.94620	3.56	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.992	D;D;P	0.78314	0.991;0.979;0.786	D	0.94718	0.7898	10	0.87932	D	0	-3.9091	20.6282	0.99521	0.0:1.0:0.0:0.0	.	412;408;369	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	C	412;408;369;412;412	ENSP00000397563:R412C;ENSP00000393412:R408C;ENSP00000421966:R369C;ENSP00000396861:R412C;ENSP00000296783:R412C	ENSP00000296783:R412C	R	+	1	0	PAPD4	79011183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.130000	0.71663	2.871000	0.98454	0.655000	0.94253	CGT	PAPD4	-	pfam_PAP_assoc		0.313	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD4	HGNC	protein_coding	OTTHUMT00000226967.1	C	NM_173797		78975427	1	no_errors	ENST00000296783	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78975427	C	T	78975427	3	4	164	1	0	0	0	0	1	0	0	0	11448	884	31	1	1280	1	PAPD4	5	78975427	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	388448	78975427	101939833	243	31031										
RASGRF2	5924	genome.wustl.edu	37	chr5	80256695	80256695	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacgagaagtggttcgccctCtaccagaatgtgctcttcta	9	12	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:80256695C>T	ENST00000265080.4	+	1	205	c.138C>T	c.(136-138)ctC>ctT	p.L46L	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	46	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GGTTCGCCCTCTACCAGAATG	0.657																																																	0													33	35	34					5																	80256695		2202	4300	6502	SO:0001819	synonymous_variant	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.138C>T	5.37:g.80256695C>T			B9EG89|Q9UK56	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L46	ENST00000265080.4	37	c.138	CCDS4052.1	5																																																																																			RASGRF2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.657	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	C	NM_006909		80256695	1	no_errors	ENST00000265080	ensembl	human	known	70_37	silent	SNP	1.000	T	T	80256695	C	T	80256695	2	4	164	1	0	0	0	0	0	0	0	1	13103	900	32	1		1	RASGRF2	5	80256695	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1281268	80256695	100658565	244	31032										
ERAP1	51752	genome.wustl.edu	37	chr5	96127859	96127859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggaatttaaagcatctacctCcattgcgtcaaaacatttgc	6	10	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:96127859C>T	ENST00000443439.2	-	8	1291	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	ERAP1_ENST00000296754.3_Missense_Mutation_p.E409K	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	409					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GCATCTACCTCCATTGCGTCA	0.353																																																	0													129	126	127					5																	96127859		2203	4300	6503	SO:0001583	missense	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1225G>A	5.37:g.96127859C>T	ENSP00000406304:p.Glu409Lys		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E409K	ENST00000443439.2	37	c.1225	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277250	0.40294	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.02579	4.24;4.24	5.86	5.86	0.93980	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.047729	0.85682	D	0.000000	T	0.03477	0.0100	N	0.25992	0.78	0.80722	D	1	B;B;B	0.19445	0.026;0.015;0.036	B;B;B	0.25987	0.065;0.048;0.028	T	0.52953	-0.8506	10	0.09843	T	0.71	.	19.797	0.96490	0.0:1.0:0.0:0.0	.	409;409;409	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	K	409	ENSP00000296754:E409K;ENSP00000406304:E409K	ENSP00000296754:E409K	E	-	1	0	ERAP1	96153615	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.556000	0.67307	2.776000	0.95493	0.655000	0.94253	GAG	ERAP1	-	pfam_Peptidase_M1_N		0.353	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	C	NM_016442		96127859	-1	no_errors	ENST00000296754	ensembl	human	known	70_37	missense	SNP	1.000	T	T	96127859	C	T	96127859	3	4	164	1	0	0	0	0	1	0	0	0	5215	864	30	1	1681	1	ERAP1	5	96127859	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	15871164	96127859	84787401	245	31033										
SLCO6A1	133482	genome.wustl.edu	37	chr5	101813540	101813540	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccactgctctggcaaccactGacaacctttatttcttcgca	5	15	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:101813540G>A	ENST00000506729.1	-	3	813	c.642C>T	c.(640-642)gtC>gtT	p.V214V	SLCO6A1_ENST00000379807.3_Silent_p.V214V|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCAACCACTGACAACCTTTA	0.338																																																	0													148	145	146					5																	101813540		2203	4300	6503	SO:0001819	synonymous_variant	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.642C>T	5.37:g.101813540G>A			A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.V214	ENST00000506729.1	37	c.642	CCDS34206.1	5																																																																																			SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.338	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	G	NM_173488		101813540	-1	no_errors	ENST00000379807	ensembl	human	known	70_37	silent	SNP	0.001	A	A	101813540	G	A	101813540	2	1	164	1	0	0	0	0	0	0	0	1	14762	1277	45	1		1	SLCO6A1	5	101813540	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5685681	101813540	79101720	246	31034										
P4HA2	8974	genome.wustl.edu	37	chr5	131553006	131553006	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agccctcagcatcagcagctGacttgctagtcaaggcttcc	9	14	3	1	rs200158840		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:131553006G>A	ENST00000401867.1	-	5	783	c.215C>T	c.(214-216)tCa>tTa	p.S72L	P4HA2_ENST00000379100.2_Missense_Mutation_p.S72L|P4HA2_ENST00000360568.3_Missense_Mutation_p.S72L|P4HA2_ENST00000379104.2_Missense_Mutation_p.S72L|P4HA2_ENST00000166534.4_Missense_Mutation_p.S72L|P4HA2_ENST00000379086.1_Missense_Mutation_p.S72L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	72					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATCAGCAGCTGACTTGCTAGT	0.532																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0													124	105	112					5																	131553006		2203	4300	6503	SO:0001583	missense	8974			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.215C>T	5.37:g.131553006G>A	ENSP00000384999:p.Ser72Leu		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S72L	ENST00000401867.1	37	c.215	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941548	0.92526	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698;ENST00000395164;ENST00000453286;ENST00000428369;ENST00000418055;ENST00000416053	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	6.03	5.16	0.70880	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.111700	0.64402	N	0.000006	T	0.58250	0.2109	M	0.82517	2.595	0.80722	D	1	P;P	0.51933	0.949;0.753	P;B	0.50537	0.643;0.406	T	0.67122	-0.5750	10	0.87932	D	0	-13.1633	15.343	0.74311	0.0666:0.0:0.9334:0.0	.	72;72	O15460;O15460-2	P4HA2_HUMAN;.	L	72;72;72;72;72;72;72;104;72;72;72;72;72;72	ENSP00000384999:S72L;ENSP00000368379:S72L;ENSP00000166534:S72L;ENSP00000353772:S72L;ENSP00000368398:S72L;ENSP00000368394:S72L	ENSP00000166534:S72L	S	-	2	0	P4HA2	131580905	1.000000	0.71417	0.958000	0.39756	0.910000	0.53928	9.476000	0.97823	1.563000	0.49615	-0.140000	0.14226	TCA	P4HA2	-	pfam_Pro_4_hyd_alph_N		0.532	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	G	NM_004199		131553006	-1	no_errors	ENST00000166534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131553006	G	A	131553006	3	1	164	1	0	0	0	0	1	0	0	0	11381	1294	45	1	1504	1	P4HA2	5	131553006	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	29739466	131553006	49362254	247	31035										
ANKHD1	54882	genome.wustl.edu	37	chr5	139884800	139884800	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgcacgggatgccaaaattGaacacagagacaaaaaaggt	10	7	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:139884800G>C	ENST00000360839.2	+	17	3398	c.3244G>C	c.(3244-3246)Gaa>Caa	p.E1082Q	ANKHD1_ENST00000297183.6_Missense_Mutation_p.E1082Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1082Q	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1082						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAAAATTGAACACAGAGA	0.348																																																	0													58	58	58					5																	139884800		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3244G>C	5.37:g.139884800G>C	ENSP00000354085:p.Glu1082Gln		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.E1082Q	ENST00000360839.2	37	c.3244	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762260|4.762260	0.89932|0.89932	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219|ENST00000246149	T;T;T;T;T|.	0.64618|.	-0.11;-0.11;-0.11;-0.11;-0.11|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70657|0.70657	0.3249|0.3249	L|L	0.51914|0.51914	1.62|1.62	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;0.999|.	D;D;D;D;D|.	0.91635|.	0.999;0.998;0.998;0.996;0.996|.	T|T	0.66732|0.66732	-0.5849|-0.5849	10|5	0.72032|.	D|.	0.01|.	.|.	19.3807|19.3807	0.94532|0.94532	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	293;1082;1101;1082;1082|.	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	Q|F	1082;1115;1082;1082;616;293;1101;235;1082|307	ENSP00000354085:E1082Q;ENSP00000297183:E1082Q;ENSP00000394489:E1101Q;ENSP00000405602:E235Q;ENSP00000432016:E1082Q|.	ENSP00000432016:E1082Q|.	E|L	+|+	1|3	0|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139864984|139864984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.813000|9.813000	0.99286|0.99286	2.575000|2.575000	0.86900|0.86900	0.561000|0.561000	0.74099|0.74099	GAA|TTG	ANKHD1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.348	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	G	NM_017747		139884800	1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139884800	G	C	139884800	3	2	164	1	0	0	0	0	1	0	0	0	628	1291	45	1	3416	1	ANKHD1	5	139884800	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8331794	139884800	41030460	248	31036										
PCDHA6	56142	genome.wustl.edu	37	chr5	140208714	140208714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attttggataaaaatgataaCgtccctgagatagcactgac	8	7	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:140208714C>A	ENST00000529310.1	+	1	1152	c.1038C>A	c.(1036-1038)aaC>aaA	p.N346K	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.N346K|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATGATAACGTCCCTGAGA	0.453																																																	0													63	65	65					5																	140208714		2202	4280	6482	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1038C>A	5.37:g.140208714C>A	ENSP00000433378:p.Asn346Lys		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N346K	ENST00000529310.1	37	c.1038	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	8.784	0.929009	0.18131	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01745	4.66;4.66	3.7	-2.85	0.05734	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.39544	U	0.001323	T	0.15176	0.0366	H	0.98407	4.225	0.19775	N	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.98;0.999	T	0.02037	-1.1225	10	0.87932	D	0	.	11.228	0.48895	0.0:0.5223:0.0:0.4777	.	346;346;346	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	K	346	ENSP00000433378:N346K;ENSP00000434113:N346K	ENSP00000434113:N346K	N	+	3	2	PCDHA6	140188898	0.000000	0.05858	0.140000	0.22221	0.240000	0.25518	-3.253000	0.00539	-0.414000	0.07495	0.313000	0.20887	AAC	PCDHA6	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.453	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140208714	1	no_errors	ENST00000529310	ensembl	human	known	70_37	missense	SNP	0.039	A	A	140208714	C	A	140208714	3	1	164	1	0	0	0	0	1	0	0	0	11552	535	19	2	1040	2	PCDHA6	5	140208714	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	323914	140208714	40706546	249	31037										
PCDHAC2	56134	genome.wustl.edu	37	chr5	140348363	140348363	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	taatggagagccatcactatCagcctctgtggccattacag	9	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:140348363C>T	ENST00000289269.5	+	1	2544	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	671	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCACTATCAGCCTCTGTG	0.493																																					Melanoma(190;638 2083 3390 11909 52360)												0													76	69	71					5																	140348363		2203	4300	6503	SO:0001583	missense	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2012C>T	5.37:g.140348363C>T	ENSP00000289269:p.Ser671Leu		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S671L	ENST00000289269.5	37	c.2012	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904327	0.52333	.	.	ENSG00000243232	ENST00000289269	T	0.55588	0.51	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.000000	0.35407	N	0.003238	T	0.81465	0.4828	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.84920	0.0853	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	671;671	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	L	671	ENSP00000289269:S671L	ENSP00000289269:S671L	S	+	2	0	PCDHAC2	140328547	1.000000	0.71417	0.985000	0.45067	0.073000	0.16967	7.800000	0.85949	2.865000	0.98341	0.655000	0.94253	TCA	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.493	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	C	NM_018899		140348363	1	no_errors	ENST00000289269	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140348363	C	T	140348363	3	4	164	1	0	0	0	0	1	0	0	0	11557	838	29	1	2014	1	PCDHAC2	5	140348363	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	139649	140348363	40566897	250	31038										
PCDHGA9	56107	genome.wustl.edu	37	chr5	140783915	140783915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctacctcccggaaaacaacGccagaggtacttccatcttc	6	15	2	1	rs370966293		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:140783915G>A	ENST00000573521.1	+	1	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAAACAACGCCAGAGGTAC	0.468																																																	0													82	81	82					5																	140783915		1945	4165	6110	SO:0001583	missense	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1396G>A	5.37:g.140783915G>A	ENSP00000460274:p.Ala466Thr		A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A466T	ENST00000573521.1	37	c.1396	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.468	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	G	NM_018921		140783915	1	no_errors	ENST00000573521	ensembl	human	known	70_37	missense	SNP	0.001	A	A	140783915	G	A	140783915	3	1	164	1	0	0	0	0	1	0	0	0	11585	1087	38	2	1398	2	PCDHGA9	5	140783915	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	435552	140783915	40131345	251	31039										
PCDH1	5097	genome.wustl.edu	37	chr5	141233619	141233619	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tagggggctcacaggtagatCtcgcgcttggccgtctgggc	16	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:141233619C>G	ENST00000287008.3	-	5	3849	c.3702G>C	c.(3700-3702)gaG>gaC	p.E1234D	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACAGGTAGATCTCGCGCTTGG	0.687																																					Ovarian(132;1609 1739 4190 14731 45037)												0													19	24	23					5																	141233619		2201	4300	6501	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3702G>C	5.37:g.141233619C>G	ENSP00000287008:p.Glu1234Asp		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1234D	ENST00000287008.3	37	c.3702	CCDS4267.1	5	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187672	0.57909	.	.	ENSG00000156453	ENST00000287008	T	0.59772	0.24	4.97	3.85	0.44370	.	0.000000	0.35936	U	0.002890	T	0.43144	0.1234	L	0.32530	0.975	0.80722	D	1	B	0.23990	0.095	B	0.28465	0.09	T	0.48736	-0.9009	10	0.87932	D	0	.	5.1179	0.14845	0.0:0.7449:0.0:0.2551	.	1234	Q08174-2	.	D	1234	ENSP00000287008:E1234D	ENSP00000287008:E1234D	E	-	3	2	PCDH1	141213803	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.629000	0.37071	2.457000	0.83068	0.462000	0.41574	GAG	PCDH1	-	NULL		0.687	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000320587.2	C	NM_032420		141233619	-1	no_errors	ENST00000287008	ensembl	human	known	70_37	missense	SNP	1.000	G	G	141233619	C	G	141233619	3	3	164	1	0	0	0	0	1	0	0	0	11530	912	32	1	15	1	PCDH1	5	141233619	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	449704	141233619	39681641	252	31040										
PDE6A	5145	genome.wustl.edu	37	chr5	149276280	149276280	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccggttcagctcaccaggatCtcagccagctcctcttcctc	7	18	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:149276280C>G	ENST00000255266.5	-	11	1586	c.1467G>C	c.(1465-1467)gaG>gaC	p.E489D		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	489					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TCACCAGGATCTCAGCCAGCT	0.537																																																	0													159	153	155					5																	149276280		2203	4300	6503	SO:0001583	missense	5145				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1467G>C	5.37:g.149276280C>G	ENSP00000255266:p.Glu489Asp		Q0P638	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E489D	ENST00000255266.5	37	c.1467	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292376	0.23564	.	.	ENSG00000132915	ENST00000255266	T	0.62788	0.0	5.9	2.69	0.31865	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.274170	0.34046	N	0.004313	T	0.41351	0.1155	L	0.33093	0.98	0.38838	D	0.956007	B	0.02656	0.0	B	0.06405	0.002	T	0.15464	-1.0436	10	0.15499	T	0.54	.	3.2766	0.06901	0.1605:0.5429:0.1567:0.1399	.	489	P16499	PDE6A_HUMAN	D	489	ENSP00000255266:E489D	ENSP00000255266:E489D	E	-	3	2	PDE6A	149256473	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.832000	0.27490	0.820000	0.34516	-0.181000	0.13052	GAG	PDE6A	-	NULL		0.537	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	C			149276280	-1	no_errors	ENST00000255266	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149276280	C	G	149276280	3	3	164	1	0	0	0	0	1	0	0	0	11669	912	32	1	1163	1	PDE6A	5	149276280	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8042661	149276280	31638980	253	31041										
TIGD6	81789	genome.wustl.edu	37	chr5	149375086	149375086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagcaagaggatccggcgttCcgccctcttcatcctggcat	11	14	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:149375086C>T	ENST00000296736.3	-	2	1600	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	TIGD6_ENST00000515406.2_Missense_Mutation_p.E276K	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	276	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATCCGGCGTTCCGCCCTCTTC	0.517																																																	0													89	80	83					5																	149375086		2203	4300	6503	SO:0001583	missense	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.826G>A	5.37:g.149375086C>T	ENSP00000296736:p.Glu276Lys		B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E276K	ENST00000296736.3	37	c.826	CCDS4301.1	5	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.522193	0.00967	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.39997	1.05;1.05	5.14	4.21	0.49690	.	0.000000	0.34676	U	0.003771	T	0.16557	0.0398	N	0.03608	-0.345	0.09310	N	1	P	0.47484	0.896	P	0.44394	0.448	T	0.34850	-0.9812	10	0.02654	T	1	.	6.0645	0.19856	0.1884:0.7163:0.0:0.0953	.	276	Q17RP2	TIGD6_HUMAN	K	276	ENSP00000296736:E276K;ENSP00000425318:E276K	ENSP00000296736:E276K	E	-	1	0	TIGD6	149355279	0.033000	0.19621	0.181000	0.23098	0.319000	0.28217	0.651000	0.24873	2.544000	0.85801	0.563000	0.77884	GAA	TIGD6	-	pfam_DDE_SF_endonuclease_CENPB-like		0.517	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1	C	NM_030953		149375086	-1	no_errors	ENST00000296736	ensembl	human	known	70_37	missense	SNP	0.059	T	T	149375086	C	T	149375086	3	4	164	1	0	0	0	0	1	0	0	0	15930	864	30	1	743	1	TIGD6	5	149375086	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	98806	149375086	31540174	254	31042										
FAT2	2196	genome.wustl.edu	37	chr5	150928860	150928860	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggccaggcctctcacctttCaggagggagtagtggacctc	13	12	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:150928860C>T	ENST00000261800.5	-	8	4797	c.4785G>A	c.(4783-4785)ctG>ctA	p.L1595L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1595	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCACCTTTCAGGAGGGAGT	0.527																																																	0													36	33	34					5																	150928860		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4785G>A	5.37:g.150928860C>T			O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L1595	ENST00000261800.5	37	c.4785	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	C	NM_001447		150928860	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	silent	SNP	0.995	T	T	150928860	C	T	150928860	2	4	164	1	0	0	0	0	0	0	0	1	5708	813	29	1		1	FAT2	5	150928860	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1553774	150928860	29986400	255	31043										
KIF4B	285643	genome.wustl.edu	37	chr5	154396407	154396407	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcaagcagaaactgatcctCctccaggtagccagcagaca	8	13	1	3	rs372105918		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:154396407C>T	ENST00000435029.4	+	1	3148	c.2988C>T	c.(2986-2988)ctC>ctT	p.L996L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	996	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACTGATCCTCCTCCAGGTAG	0.438																																																	0								C		0,4406		0,0,2203	157	160	159		2988	-0.4	0.6	5		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF4B	NM_001099293.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		996/1235	154396407	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2988C>T	5.37:g.154396407C>T				Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L996	ENST00000435029.4	37	c.2988	CCDS47324.1	5																																																																																			KIF4B	-	NULL		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	C			154396407	1	no_errors	ENST00000435029	ensembl	human	known	70_37	silent	SNP	0.997	T	T	154396407	C	T	154396407	2	4	164	1	0	0	0	0	0	0	0	1	8324	842	30	1		1	KIF4B	5	154396407	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3467547	154396407	26518853	256	31044										
ODZ2	57451	genome.wustl.edu	37	chr5	167687383	167687383	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atttcgtgcctcctccctatGaattgtcagagagtcaagca	8	11	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:167687383G>A	ENST00000518659.1	+	28	7567	c.7528G>A	c.(7528-7530)Gaa>Aaa	p.E2510K	TENM2_ENST00000519204.1_Missense_Mutation_p.E2389K|TENM2_ENST00000520394.1_Missense_Mutation_p.E2271K|TENM2_ENST00000545108.1_Missense_Mutation_p.E2509K|TENM2_ENST00000403607.2_Missense_Mutation_p.E2334K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2510					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TCCTCCCTATGAATTGTCAGA	0.443																																																	0													122	113	116					5																	167687383		1976	4163	6139	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7528G>A	5.37:g.167687383G>A	ENSP00000429430:p.Glu2510Lys		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E2510K	ENST00000518659.1	37	c.7528		5	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746507	0.89663	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89746	-2.09;-2.08;-2.2;-2.53;-2.56	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.94624	0.8267	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.974	D;D;D	0.91635	0.999;0.998;0.969	D	0.93432	0.6786	10	0.30078	T	0.28	.	18.5769	0.91158	0.0:0.0:1.0:0.0	.	2509;2510;2271	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	2510;2509;2389;2271;2334	ENSP00000429430:E2510K;ENSP00000438635:E2509K;ENSP00000428964:E2389K;ENSP00000427874:E2271K;ENSP00000384905:E2334K	ENSP00000384905:E2334K	E	+	1	0	ODZ2	167619961	1.000000	0.71417	0.995000	0.50966	0.754000	0.42855	9.793000	0.99091	2.386000	0.81285	0.563000	0.77884	GAA	TENM2	-	NULL		0.443	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167687383	1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	A	A	167687383	G	A	167687383	3	1	164	1	0	0	0	0	1	0	0	0	10859	1291	45	1	7611	1	ODZ2	5	167687383	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	13290976	167687383	13227877	257	31045										
WWC1	23286	genome.wustl.edu	37	chr5	167850938	167850938	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgaccccctcctggctggtGatgccttcctcaactccttg	8	17	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:167850938G>A	ENST00000265293.4	+	11	2177	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	WWC1_ENST00000521089.1_Missense_Mutation_p.D559N	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	559					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCTGGCTGGTGATGCCTTCCT	0.592																																																	0													73	64	67					5																	167850938		2203	4300	6503	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1675G>A	5.37:g.167850938G>A	ENSP00000265293:p.Asp559Asn		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.D559N	ENST00000265293.4	37	c.1675	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	G	17.79	3.477057	0.63849	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.28895	1.59;1.59	4.98	4.98	0.66077	.	0.343107	0.30365	N	0.009796	T	0.51770	0.1694	L	0.60455	1.87	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;P	0.81914	0.995;0.957;0.957;0.864	T	0.41945	-0.9480	10	0.27082	T	0.32	.	18.2752	0.90080	0.0:0.0:1.0:0.0	.	559;465;465;559	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	N	559	ENSP00000265293:D559N;ENSP00000427772:D559N	ENSP00000265293:D559N	D	+	1	0	WWC1	167783516	1.000000	0.71417	0.953000	0.39169	0.072000	0.16883	9.230000	0.95299	2.320000	0.78422	0.655000	0.94253	GAT	WWC1	-	NULL		0.592	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	G	NM_015238		167850938	1	no_errors	ENST00000265293	ensembl	human	known	70_37	missense	SNP	1.000	A	A	167850938	G	A	167850938	3	1	164	1	0	0	0	0	1	0	0	0	17442	1290	45	1	1717	1	WWC1	5	167850938	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	163555	167850938	13064322	258	31046										
NSD1	64324	genome.wustl.edu	37	chr5	176721266	176721266	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttagataaggtcagagacctCgctgggtcagggaccaaatc	12	9	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:176721266C>T	ENST00000439151.2	+	23	6942	c.6897C>T	c.(6895-6897)ctC>ctT	p.L2299L	NSD1_ENST00000347982.4_Silent_p.L2030L|NSD1_ENST00000354179.4_Silent_p.L2030L|NSD1_ENST00000361032.4_Silent_p.L2196L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2299	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGAGACCTCGCTGGGTCAG	0.557			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													59	62	61					5																	176721266		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6897C>T	5.37:g.176721266C>T			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L2299	ENST00000439151.2	37	c.6897	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.557	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176721266	1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.959	T	T	176721266	C	T	176721266	2	4	164	1	0	0	0	0	0	0	0	1	10693	871	31	1		1	NSD1	5	176721266	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8870328	176721266	4193994	259	31047										
GCNT2	2651	genome.wustl.edu	37	chr6	10556959	10556959	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttggcatatataatggtcatCcatcatcactttgacacctt	5	10	3	1	rs569056707		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:10556959C>G	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.I101M			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TAATGGTCATCCATCATCACT	0.413																																																	0													105	98	101					6																	10556959		2203	4300	6503	SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26890C>G	6.37:g.10556959C>G				Missense_Mutation	SNP	pfam_Glyco_trans_14	p.I101M	ENST00000379597.3	37	c.303	CCDS34338.1	6	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520954	0.44866	.	.	ENSG00000111846	ENST00000316170	T	0.12569	2.67	4.89	3.96	0.45880	.	.	.	.	.	T	0.10465	0.0256	M	0.67625	2.065	0.80722	D	1	P	0.41848	0.763	B	0.42163	0.378	T	0.01697	-1.1293	9	0.51188	T	0.08	.	10.6483	0.45634	0.1258:0.6487:0.2256:0.0	.	101	Q06430	GNT2B_HUMAN	M	101	ENSP00000314844:I101M	ENSP00000314844:I101M	I	+	3	3	GCNT2	10664945	0.056000	0.20664	1.000000	0.80357	0.983000	0.72400	-0.771000	0.04699	2.408000	0.81797	0.655000	0.94253	ATC	GCNT2	-	pfam_Glyco_trans_14		0.413	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	C	NM_145649		10556959	1	no_errors	ENST00000316170	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10556959	C	G	10556959	1	3	164	0	1	0	0	0	0	0	0	0	6320	845	30	1		1	GCNT2	6	10556959	Intron	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09		10556959	160558108	260	31048										
JARID2	3720	genome.wustl.edu	37	chr6	15496858	15496858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaggggcggctggccccgccGaaggccctggcaagaaggcc	17	14	0	1	rs200762091		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:15496858G>A	ENST00000341776.2	+	7	1646	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	JARID2_ENST00000397311.3_Missense_Mutation_p.E296K|JARID2_ENST00000541660.1_Missense_Mutation_p.E430K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	468					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGCCCCGCCGAAGGCCCTGG	0.662													G|||	1	0.000199681	8e-04	0	5008	,	,		14536	0		0	False		,,,				2504	0																0								G	LYS/GLU	15,4333		0,15,2159	13	17	15		1402	3.3	0.3	6		15	0,8526		0,0,4263	yes	missense	JARID2	NM_004973.2	56	0,15,6422	AA,AG,GG		0.0,0.345,0.1165	probably-damaging	468/1247	15496858	15,12859	2174	4263	6437	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1402G>A	6.37:g.15496858G>A	ENSP00000341280:p.Glu468Lys		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.E468K	ENST00000341776.2	37	c.1402	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036144	0.54896	0.00345	0.0	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89617	-1.89;-1.89;-2.54	5.13	3.29	0.37713	.	0.244689	0.38663	N	0.001605	T	0.81978	0.4937	L	0.29908	0.895	0.43613	D	0.995987	B;D;B	0.71674	0.007;0.998;0.002	B;P;B	0.55222	0.005;0.771;0.001	T	0.80703	-0.1264	10	0.33141	T	0.24	-4.5435	10.3482	0.43918	0.0741:0.1367:0.7893:0.0	.	430;332;468	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	K	332;468;296;430	ENSP00000341280:E468K;ENSP00000380478:E296K;ENSP00000444623:E430K	ENSP00000341280:E468K	E	+	1	0	JARID2	15604837	1.000000	0.71417	0.350000	0.25708	0.038000	0.13279	5.063000	0.64332	1.258000	0.44101	0.655000	0.94253	GAA	JARID2	-	NULL		0.662	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	G	NM_004973		15496858	1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	0.891	A	A	15496858	G	A	15496858	3	1	164	1	0	0	0	0	1	0	0	0	7965	1059	37	1	1428	1	JARID2	6	15496858	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4939899	15496858	155618209	261	31049										
GMNN	51053	genome.wustl.edu	37	chr6	24781754	24781754	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcggaatgaccacttaacatCtacaacttccagccctgggg	8	13	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:24781754C>G	ENST00000230056.3	+	4	511	c.179C>G	c.(178-180)tCt>tGt	p.S60C	GMNN_ENST00000356509.3_Missense_Mutation_p.S60C	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	60			S -> P (in dbSNP:rs2307302).		mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						CACTTAACATCTACAACTTCC	0.373																																																	0													55	59	58					6																	24781754		2203	4300	6503	SO:0001583	missense	51053			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.179C>G	6.37:g.24781754C>G	ENSP00000230056:p.Ser60Cys		B3KMM8|Q9H1Z1	Missense_Mutation	SNP	pfam_Geminin_fam	p.S60C	ENST00000230056.3	37	c.179	CCDS4560.1	6	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797044	0.70567	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000476555;ENST00000378059	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.49	4.63	0.57726	.	0.400098	0.30501	N	0.009483	T	0.25975	0.0633	M	0.79475	2.455	0.23320	N	0.997918	D	0.55172	0.97	P	0.59948	0.866	T	0.08806	-1.0704	10	0.72032	D	0.01	-24.2853	13.4935	0.61411	0.0:0.9248:0.0:0.0752	.	60	O75496	GEMI_HUMAN	C	60	ENSP00000348902:S60C;ENSP00000230056:S60C;ENSP00000367293:S60C;ENSP00000419584:S60C;ENSP00000367298:S60C	ENSP00000230056:S60C	S	+	2	0	GMNN	24889733	0.119000	0.22226	0.520000	0.27837	0.890000	0.51754	3.074000	0.50065	1.456000	0.47831	0.655000	0.94253	TCT	GMNN	-	pfam_Geminin_fam		0.373	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNN	HGNC	protein_coding	OTTHUMT00000040021.2	C	NM_015895		24781754	1	no_errors	ENST00000230056	ensembl	human	known	70_37	missense	SNP	0.397	G	G	24781754	C	G	24781754	3	3	164	1	0	0	0	0	1	0	0	0	6512	913	32	1	189	1	GMNN	6	24781754	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	9284896	24781754	146333313	262	31050										
SLC17A2	10246	genome.wustl.edu	37	chr6	25916994	25916995	+	Frame_Shift_Ins	INS	-	-	A													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgcacaaccagaaatggctgINSaaaaaacccaggaaaatggc							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:25916994_25916995insA	ENST00000265425.3	-	7	868_869	c.848_849insT	c.(847-849)ttcfs	p.F283fs	SLC17A2_ENST00000377850.3_Frame_Shift_Ins_p.F283fs|SLC17A2_ENST00000360488.3_Frame_Shift_Ins_p.F283fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	283					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGAAATGGCTGAAAAAACCCAG	0.446																																																	0																																										SO:0001589	frameshift_variant	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.849dupT	6.37:g.25917000_25917000dupA	ENSP00000265425:p.Phe283fs		A6NK81|A6NLD6|Q5TB84|Q76P85	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S284fs	ENST00000265425.3	37	c.849_848		6																																																																																			SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.446	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	-			25916995	-1	no_errors	ENST00000377850	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	25916995	-	A	25916994	7	5	164	1	0	1	1	0	0	0	0	0	14447	1281	45	0	477	0	SLC17A2	6	25916994	Frame_Shift_Ins	INS	-	TCGA-JX-A3Q0-01A-11D-A21Q-09	1135240	25916994	145198073	263	31051										
HIST1H2BM	8342	genome.wustl.edu	37	chr6	27783096	27783096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caagcgctcgaccatcacttCgagggagatccagacggccg	12	14	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:27783096C>T	ENST00000359465.4	+	1	275	c.275C>T	c.(274-276)tCg>tTg	p.S92L	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	92					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						ACCATCACTTCGAGGGAGATC	0.592																																																	0													79	77	78					6																	27783096		2203	4300	6503	SO:0001583	missense	8342			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.275C>T	6.37:g.27783096C>T	ENSP00000352442:p.Ser92Leu		Q6NWQ3	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S92L	ENST00000359465.4	37	c.275	CCDS4629.1	6	.	.	.	.	.	.	.	.	.	.	.	18.38	3.610555	0.66558	.	.	ENSG00000196374	ENST00000359465	T	0.45668	0.89	4.34	4.34	0.51931	Histone-fold (2);Histone core (1);	0.000000	0.53938	U	0.000051	T	0.67297	0.2878	H	0.99347	4.525	0.58432	D	0.999996	D	0.57899	0.981	P	0.51016	0.656	T	0.83255	-0.0051	10	0.87932	D	0	.	16.3606	0.83263	0.0:1.0:0.0:0.0	.	92	Q99879	H2B1M_HUMAN	L	92	ENSP00000352442:S92L	ENSP00000352442:S92L	S	+	2	0	HIST1H2BM	27891075	1.000000	0.71417	0.320000	0.25306	0.984000	0.73092	7.286000	0.78671	2.391000	0.81399	0.563000	0.77884	TCG	HIST1H2BM	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.592	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BM	HGNC	protein_coding	OTTHUMT00000040157.1	C	NM_003521		27783096	1	no_errors	ENST00000359465	ensembl	human	known	70_37	missense	SNP	0.989	T	T	27783096	C	T	27783096	3	4	164	1	0	0	0	0	1	0	0	0	7172	893	31	1	277	1	HIST1H2BM	6	27783096	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1866102	27783096	143331971	264	31052										
HLA-A	3105	genome.wustl.edu	37	chr6	29912276	29912276	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caccttcccctcttttcccaGagctgtcttcccagcccacc	4	21	2	1	rs45540334		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:29912276G>C	ENST00000396634.1	+	7	1236		c.e7-1		HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTTTTCCCAGAGCTGTCTTC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							1	Unknown(1)	lung(1)											77	73	74					6																	29912276		1511	2709	4220	SO:0001630	splice_region_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.896-1G>C	6.37:g.29912276G>C			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	-	e5-1	ENST00000396634.1	37	c.896-1	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	g	12.53	1.964858	0.34659	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1517	0.48462	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30020255	0.610000	0.26983	0.642000	0.29436	0.168000	0.22595	1.352000	0.34033	2.070000	0.61991	0.485000	0.47835	.	HLA-A	-	-		0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116	Intron	29912276	1	no_errors	ENST00000376806	ensembl	human	known	70_37	splice_site	SNP	0.908	C	C	29912276	G	C	29912276	5	2	164	1	0	0	0	0	0	0	1	0	7215	956	33	1	913	1	HLA-A	6	29912276	Splice_Site	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2129180	29912276	141202791	265	31053										
HLA-B	3106	genome.wustl.edu	37	chr6	31324681	31324681	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cactgagatgaagcggggctCcccgcggccgggccgggaca	17	14	0	2	rs137854653		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:31324681C>A	ENST00000412585.2	-	2	155	c.127G>T	c.(127-129)Gag>Tag	p.E43*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AAGCGGGGCTCCCCGCGGCCG	0.701									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													21	17	18					6																	31324681		2112	4128	6240	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.127G>T	6.37:g.31324681C>A	ENSP00000399168:p.Glu43*		Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E43*	ENST00000412585.2	37	c.127	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	16.09	3.023355	0.54683	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	.	.	.	3.2	1.4	0.22301	.	2.106960	0.03535	U	0.223072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.7509	0.08566	0.0:0.5542:0.2044:0.2414	.	.	.	.	X	43;54	.	ENSP00000399168:E43X	E	-	1	0	HLA-B	31432660	0.000000	0.05858	0.445000	0.26908	0.006000	0.05464	-0.958000	0.03857	0.216000	0.20781	-0.480000	0.04831	GAG	HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.701	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514		31324681	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	0.989	A	A	31324681	C	A	31324681	4	1	164	1	0	0	0	0	0	1	0	0	7216	864	30	3	985	3	HLA-B	6	31324681	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1412405	31324681	139790386	266	31054										
HLA-DQA1	3117	genome.wustl.edu	37	chr6	32609155	32609155	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctctggccagtacacccatGaatttgatggagatgagcag	11	10	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:32609155G>C	ENST00000343139.5	+	2	253	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.E51Q|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.E51Q	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	51	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTACACCCATGAATTTGATGG	0.532																																																	0													128	108	115					6																	32609155		2202	4285	6487	SO:0001583	missense	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.151G>C	6.37:g.32609155G>C	ENSP00000339398:p.Glu51Gln		O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.E51Q	ENST00000343139.5	37	c.151	CCDS4752.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.87|13.87	2.365677|2.365677	0.41902|0.41902	.|.	.|.	ENSG00000196735|ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949|ENST00000486548	T;T;T;T|.	0.00856|.	5.61;5.61;5.61;5.61|.	3.84|3.84	3.84|3.84	0.44239|0.44239	.|.	0.142348|.	0.46442|.	U|.	0.000284|.	T|T	0.72203|0.72203	0.3431|0.3431	M|M	0.92880|0.92880	3.355|3.355	0.31410|0.31410	N|N	0.675646|0.675646	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.91635|.	0.999;0.883|.	T|T	0.73739|0.73739	-0.3888|-0.3888	10|5	0.66056|.	D|.	0.02|.	.|.	13.6421|13.6421	0.62257|0.62257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	57;51|.	Q59F33;G4XQK2|.	.;.|.	Q|I	51|23	ENSP00000339398:E51Q;ENSP00000378767:E51Q;ENSP00000437302:E51Q;ENSP00000364087:E51Q|.	ENSP00000339398:E51Q|.	E|M	+|+	1|3	0|0	HLA-DQA1|HLA-DQA1	32717133|32717133	0.999000|0.999000	0.42202|0.42202	0.953000|0.953000	0.39169|0.39169	0.058000|0.058000	0.15608|0.15608	5.124000|5.124000	0.64709|0.64709	2.151000|2.151000	0.67156|0.67156	0.462000|0.462000	0.41574|0.41574	GAA|ATG	HLA-DQA1	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N		0.532	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DQA1	HGNC	protein_coding	OTTHUMT00000076176.3	G	NM_002122		32609155	1	no_errors	ENST00000343139	ensembl	human	known	70_37	missense	SNP	0.980	C	C	32609155	G	C	32609155	3	2	164	1	0	0	0	0	1	0	0	0	7224	1291	45	1	157	1	HLA-DQA1	6	32609155	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1284474	32609155	138505912	267	31055										
PSMB8	5696	genome.wustl.edu	37	chr6	32810552	32810552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcaatcaccttgttcacccGtaaggcacctggaagaagat	8	12	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:32810552G>A	ENST00000374882.3	-	3	354	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	PSMB8_ENST00000374881.2_Missense_Mutation_p.R98W|PSMB8_ENST00000395339.3_Intron|PSMB9_ENST00000395330.1_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TTGTTCACCCGTAAGGCACCT	0.517																																					NSCLC(48;53 1172 10859 13624 22883)												0													72	69	70					6																	32810552		2203	4300	6503	SO:0001583	missense	5696				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.304C>T	6.37:g.32810552G>A	ENSP00000364016:p.Arg102Trp		B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.R102W	ENST00000374882.3	37	c.304	CCDS4757.1	6	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395673	0.83011	.	.	ENSG00000204264	ENST00000374882;ENST00000374881	T;T	0.23950	1.88;1.88	5.72	-5.04	0.02964	Proteasome, beta-type subunit, conserved site (1);	0.903747	0.09536	N	0.788939	T	0.13713	0.0332	L	0.48362	1.52	0.09310	N	1	D;D	0.65815	0.995;0.969	P;P	0.46940	0.532;0.447	T	0.16748	-1.0392	9	.	.	.	-3.6884	17.9296	0.88992	0.0:0.0:0.3107:0.6893	.	98;102	P28062-2;P28062	.;PSB8_HUMAN	W	102;98	ENSP00000364016:R102W;ENSP00000364015:R98W	.	R	-	1	2	PSMB8	32918530	0.000000	0.05858	0.000000	0.03702	0.706000	0.40770	-0.240000	0.08952	-0.922000	0.03789	0.551000	0.68910	CGG	PSMB8	-	pfam_Proteasome_sua/b		0.517	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB8	HGNC	protein_coding	OTTHUMT00000076617.3	G	NM_148919		32810552	-1	no_errors	ENST00000374882	ensembl	human	known	70_37	missense	SNP	0.000	A	A	32810552	G	A	32810552	3	1	164	1	0	0	0	0	1	0	0	0	12710	1144	40	2	542	2	PSMB8	6	32810552	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	201397	32810552	138304515	268	31056										
TAP1	6890	genome.wustl.edu	37	chr6	32816891	32816891	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccactttcagcagcatacctGaaatctataaagagaccaca	5	12	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:32816891G>C	ENST00000354258.4	-	6	1594	c.1433C>G	c.(1432-1434)tCa>tGa	p.S478*	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Nonsense_Mutation_p.S217*|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	478	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CAGCATACCTGAAATCTATAA	0.468																																																	0													36	26	30					6																	32816891		1510	2709	4219	SO:0001587	stop_gained	6890				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1433C>G	6.37:g.32816891G>C	ENSP00000346206:p.Ser478*		Q16149|Q96CP4	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.S478*	ENST00000354258.4	37	c.1433	CCDS4758.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.225603	0.98146	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	4.78	3.82	0.43975	.	0.221852	0.23202	N	0.050778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.1246	9.7796	0.40640	0.1101:0.0:0.8899:0.0	.	.	.	.	X	478;217	.	ENSP00000346206:S478X	S	-	2	0	TAP1	32924869	1.000000	0.71417	0.995000	0.50966	0.767000	0.43475	4.009000	0.57110	2.481000	0.83766	0.579000	0.79373	TCA	TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2		0.468	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	G	NM_000593		32816891	-1	no_errors	ENST00000354258	ensembl	human	known	70_37	nonsense	SNP	0.994	C	C	32816891	G	C	32816891	4	2	164	1	0	0	0	0	0	1	0	0	15580	1294	45	1	1017	1	TAP1	6	32816891	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6339	32816891	138298176	269	31057										
HMGA1	3159	genome.wustl.edu	37	chr6	34208659	34208659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggccgcgcaagcagcctccGgtgagtcccgggacagcgct	15	15	0	1	rs143690346		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:34208659G>A	ENST00000447654.1	+	2	591	c.102G>A	c.(100-102)ccG>ccA	p.P34P	HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000347617.6_Splice_Site_p.P34P|HMGA1_ENST00000395004.3_Silent_p.P34P|HMGA1_ENST00000401473.3_Splice_Site_p.P34P|HMGA1_ENST00000374116.3_Splice_Site_p.P34P|HMGA1_ENST00000311487.5_Silent_p.P34P	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	34					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA unwinding involved in DNA replication (GO:0006268)|establishment of integrated proviral latency (GO:0075713)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chromatin silencing (GO:0031936)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|oncogene-induced cell senescence (GO:0090402)|positive regulation of cellular senescence (GO:2000774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			lung(1)	1						AGCAGCCTCCGGTGAGTCCCG	0.622			T	?	"microfollicular thyroid adenoma,  various benign mesenchymal tumors,"								g|||	1	0.000199681	0	0	5008	,	,		15322	0		0	False		,,,				2504	0.001							Dom	yes		6	6p21	3159	high mobility group AT-hook 1		"E, M"	0								G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	35	43	40		102,102,102,102,102,102	4.9	1	6	dbSNP_134	40	2,8594	2.2+/-6.3	0,2,4296	yes	coding-synonymous-near-splice,coding-synonymous,coding-synonymous,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	HMGA1	NM_002131.3,NM_145899.2,NM_145901.2,NM_145902.2,NM_145903.2,NM_145905.2	,,,,,	0,3,6498	AA,AG,GG		0.0233,0.0227,0.0231	,,,,,	34/97,34/108,34/108,34/97,34/97,34/97	34208659	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	3159			AF176039	CCDS4788.1, CCDS4789.1	6p21	2011-07-01	2002-07-25	2002-07-26	ENSG00000137309	ENSG00000137309		"High-mobility group / Canonical"	5010	protein-coding gene	gene with protein product		600701	"high-mobility group (nonhistone chromosomal) protein isoforms I and Y"	HMGIY		8414980, 11406267	Standard	NM_145903		Approved		uc011dso.2	P17096	OTTHUMG00000014539	ENST00000447654.1:c.102G>A	6.37:g.34208659G>A			P10910|Q5T6U9|Q9UKB0	Silent	SNP	prints_HMGI/HMGY,prints_AT_hook-like	p.P34	ENST00000447654.1	37	c.102	CCDS4789.1	6																																																																																			HMGA1	-	NULL		0.622	HMGA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGA1	HGNC	protein_coding	OTTHUMT00000040214.2	G	NM_145899		34208659	1	no_errors	ENST00000395004	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34208659	G	A	34208659	2	1	164	1	0	0	0	0	0	0	0	1	7243	1130	39	2		2	HMGA1	6	34208659	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1391768	34208659	136906408	270	31058										
RPL7L1	285855	genome.wustl.edu	37	chr6	42853756	42853756	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agaactcattttgaaacgtgGacaagccaaggtcaagaata	9	7	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:42853756G>C	ENST00000493763.1	+	5	770	c.467G>C	c.(466-468)gGa>gCa	p.G156A	RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Missense_Mutation_p.G156A|RPL7L1_ENST00000602561.1_Missense_Mutation_p.G156A|RPL7L1_ENST00000424341.2_Intron	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	156						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TTGAAACGTGGACAAGCCAAG	0.468																																																	0													72	75	74					6																	42853756		2203	4298	6501	SO:0001583	missense	285855				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"L ribosomal proteins"	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.467G>C	6.37:g.42853756G>C	ENSP00000418221:p.Gly156Ala		A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.G156A	ENST00000493763.1	37	c.467	CCDS4873.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.388526	0.95988	.	.	ENSG00000146223	ENST00000493763;ENST00000304734	.	.	.	5.87	5.87	0.94306	Ribosomal protein L30, ferredoxin-like fold domain (1);	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	M	0.82823	2.61	0.80722	D	1	D	0.67145	0.996	P	0.60415	0.874	T	0.78006	-0.2373	9	0.72032	D	0.01	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	156	Q6DKI1	RL7L_HUMAN	A	156	.	ENSP00000346063:G156A	G	+	2	0	RPL7L1	42961734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.304000	0.96190	2.941000	0.99782	0.655000	0.94253	GGA	RPL7L1	-	superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk		0.468	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7L1	HGNC	protein_coding	OTTHUMT00000314417.1	G	XM_209769		42853756	1	no_errors	ENST00000304734	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42853756	G	C	42853756	3	2	164	1	0	0	0	0	1	0	0	0	13631	1174	41	1	485	1	RPL7L1	6	42853756	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8645097	42853756	128261311	271	31059										
CNPY3	10695	genome.wustl.edu	37	chr6	42897393	42897393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgctgctgctgccggccccgGagctgggcccgagccaggcc	16	17	0	0	rs548586566		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:42897393G>A	ENST00000372836.4	+	1	456	c.85G>A	c.(85-87)Gag>Aag	p.E29K	CNPY3_ENST00000394142.3_Missense_Mutation_p.E29K	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	29					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			gcCGGCCCCGGAGCTGGGCCC	0.701																																																	0													4	6	5					6																	42897393		1967	3922	5889	SO:0001583	missense	10695			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"Trinucleotide (CAG) repeat containing"	11968	protein-coding gene	gene with protein product		610774	"trinucleotide repeat containing 5", "canopy 3 homolog (zebrafish)"	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.85G>A	6.37:g.42897393G>A	ENSP00000361926:p.Glu29Lys		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	pfam_DUF3456	p.E29K	ENST00000372836.4	37	c.85	CCDS4875.1	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948208	0.73787	.	.	ENSG00000137161	ENST00000372836;ENST00000394142	T	0.21543	2.0	4.65	3.77	0.43336	.	0.746140	0.12754	N	0.441954	T	0.03695	0.0105	N	0.12182	0.205	0.22719	N	0.998813	B	0.02656	0.0	B	0.01281	0.0	T	0.42120	-0.9470	10	0.20519	T	0.43	-10.3883	9.9807	0.41811	0.0975:0.0:0.9025:0.0	.	29	Q9BT09	CNPY3_HUMAN	K	29	ENSP00000361926:E29K	ENSP00000361926:E29K	E	+	1	0	CNPY3	43005371	0.992000	0.36948	0.990000	0.47175	0.749000	0.42624	2.509000	0.45459	1.157000	0.42530	0.563000	0.77884	GAG	CNPY3	-	NULL		0.701	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1	G	NM_006586		42897393	1	no_errors	ENST00000372836	ensembl	human	known	70_37	missense	SNP	0.977	A	A	42897393	G	A	42897393	3	1	164	1	0	0	0	0	1	0	0	0	3634	1175	41	1	87	1	CNPY3	6	42897393	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	43637	42897393	128217674	272	31060										
MEP1A	4224	genome.wustl.edu	37	chr6	46793026	46793026	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caggttaccagcacaactttGacacctatgatgatagctta	7	10	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:46793026G>C	ENST00000230588.4	+	8	583	c.574G>C	c.(574-576)Gac>Cac	p.D192H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	192	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCACAACTTTGACACCTATGA	0.423																																																	0													140	120	127					6																	46793026		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.574G>C	6.37:g.46793026G>C	ENSP00000230588:p.Asp192His		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.D192H	ENST00000230588.4	37	c.574	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748328	0.30955	.	.	ENSG00000112818	ENST00000230588	T	0.64085	-0.08	6.16	0.997	0.19851	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.203416	0.64402	D	0.000015	T	0.37073	0.0990	L	0.41356	1.27	0.27439	N	0.953763	P;B	0.38535	0.635;0.063	B;B	0.41894	0.369;0.026	T	0.28650	-1.0037	10	0.72032	D	0.01	-23.5203	10.5573	0.45125	0.685:0.0:0.315:0.0	.	220;192	B7ZL91;Q16819	.;MEP1A_HUMAN	H	192	ENSP00000230588:D192H	ENSP00000230588:D192H	D	+	1	0	MEP1A	46900985	0.014000	0.17966	0.976000	0.42696	0.618000	0.37518	0.446000	0.21694	0.197000	0.20387	-0.300000	0.09419	GAC	MEP1A	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_Pept_M12A_Meprin		0.423	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	G	NM_005588		46793026	1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.979	C	C	46793026	G	C	46793026	3	2	164	1	0	0	0	0	1	0	0	0	9498	1290	45	1	604	1	MEP1A	6	46793026	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3895633	46793026	124322041	273	31061										
EYS	346007	genome.wustl.edu	37	chr6	64431370	64431370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgtaattcttgattatttaTgataacttgtcggatacagc	7	5	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:64431370T>G	ENST00000370621.3	-	44	9146	c.8620A>C	c.(8620-8622)Ata>Cta	p.I2874L	EYS_ENST00000370616.2_Missense_Mutation_p.I2874L|EYS_ENST00000503581.1_Missense_Mutation_p.I2853L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2874	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGATTATTTATGATAACTTGT	0.373																																																	0													101	75	83					6																	64431370		692	1590	2282	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8620A>C	6.37:g.64431370T>G	ENSP00000359655:p.Ile2874Leu		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.I2874L	ENST00000370621.3	37	c.8620		6	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871524	0.33069	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.76316	-1.01;-1.01;-1.01	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.149792	0.44097	U	0.000492	T	0.67144	0.2862	L	0.35542	1.07	0.80722	D	1	P;D	0.57899	0.94;0.981	P;P	0.58077	0.66;0.832	T	0.67452	-0.5667	10	0.27785	T	0.31	.	8.3681	0.32399	0.0:0.0898:0.0:0.9102	.	2853;2874	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	L	2853;2874;2874	ENSP00000424243:I2853L;ENSP00000359655:I2874L;ENSP00000359650:I2874L	ENSP00000359650:I2874L	I	-	1	0	EYS	64489329	0.997000	0.39634	0.996000	0.52242	0.603000	0.37013	0.940000	0.28992	1.780000	0.52325	0.473000	0.43528	ATA	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.373	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	T	XM_294050		64431370	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.993	G	G	64431370	T	G	64431370	3	3	164	1	0	0	0	0	1	0	0	0	5344	1464	51	5	881	5	EYS	6	64431370	Missense_Mutation	SNP	T	TCGA-JX-A3Q0-01A-11D-A21Q-09	17638344	64431370	106683697	274	31062										
EYS	346007	genome.wustl.edu	37	chr6	64940607	64940607	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atacatcctgctggcacacaGagggtgctgcaacagagggg	14	10	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:64940607G>A	ENST00000370621.3	-	31	6828	c.6302C>T	c.(6301-6303)tCt>tTt	p.S2101F	EYS_ENST00000370616.2_Missense_Mutation_p.S2101F|EYS_ENST00000503581.1_Missense_Mutation_p.S2101F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2101	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGGCACACAGAGGGTGCTGC	0.502																																																	0													105	97	100					6																	64940607		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6302C>T	6.37:g.64940607G>A	ENSP00000359655:p.Ser2101Phe		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S2101F	ENST00000370621.3	37	c.6302		6	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874946	0.51695	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.83250	-1.7;-1.68;-1.68	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.82181	0.4981	L	0.39898	1.24	0.80722	D	1	D;D	0.61697	0.99;0.984	D;P	0.63192	0.912;0.819	T	0.81516	-0.0897	9	0.35671	T	0.21	.	14.9559	0.71113	0.0:0.0:1.0:0.0	.	2101;2101	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	F	2101	ENSP00000424243:S2101F;ENSP00000359655:S2101F;ENSP00000359650:S2101F	ENSP00000359650:S2101F	S	-	2	0	EYS	64998566	0.158000	0.22850	0.004000	0.12327	0.090000	0.18270	3.324000	0.52022	2.307000	0.77673	0.650000	0.86243	TCT	EYS	-	pfscan_EG-like_dom		0.502	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	G	XM_294050		64940607	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.029	A	A	64940607	G	A	64940607	3	1	164	1	0	0	0	0	1	0	0	0	5344	942	33	1	3184	1	EYS	6	64940607	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	509237	64940607	106174460	275	31063										
COL19A1	1310	genome.wustl.edu	37	chr6	70875853	70875853	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcagcgacggaccccctggGaaacccggaccacctggacc	13	17	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:70875853G>A	ENST00000322773.4	+	37	2523	c.2421G>A	c.(2419-2421)ggG>ggA	p.G807G	COL19A1_ENST00000393344.1_Silent_p.G429G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	807	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GACCCCCTGGGAAACCCGGAC	0.428																																																	0													88	97	94					6																	70875853		2203	4300	6503	SO:0001819	synonymous_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2421G>A	6.37:g.70875853G>A			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G807	ENST00000322773.4	37	c.2421	CCDS4970.1	6																																																																																			COL19A1	-	pfam_Collagen		0.428	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G			70875853	1	no_errors	ENST00000322773	ensembl	human	known	70_37	silent	SNP	0.992	A	A	70875853	G	A	70875853	2	1	164	1	0	0	0	0	0	0	0	1	3681	1161	41	1		1	COL19A1	6	70875853	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5935246	70875853	100239214	276	31064										
ZNF292	23036	genome.wustl.edu	37	chr6	87964650	87964650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tacgctgtgagctgttacttGtattgaaaactcaatggccc	9	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:87964650G>A	ENST00000369577.3	+	8	1346	c.1303G>A	c.(1303-1305)Gta>Ata	p.V435I	ZNF292_ENST00000339907.4_Missense_Mutation_p.V430I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	435						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTGTTACTTGTATTGAAAAC	0.388																																																	0													71	66	68					6																	87964650		1845	4087	5932	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1303G>A	6.37:g.87964650G>A	ENSP00000358590:p.Val435Ile		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V435I	ENST00000369577.3	37	c.1303	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006015	0.74932	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.41400	1.0;1.0	6.06	6.06	0.98353	.	0.055189	0.64402	D	0.000001	T	0.46014	0.1371	N	0.24115	0.695	0.49798	D	0.999825	D	0.76494	0.999	D	0.68765	0.96	T	0.47837	-0.9086	10	0.66056	D	0.02	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	435	O60281	ZN292_HUMAN	I	435;430	ENSP00000358590:V435I;ENSP00000342847:V430I	ENSP00000342847:V430I	V	+	1	0	ZNF292	88021369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.876000	0.87215	2.880000	0.98712	0.650000	0.86243	GTA	ZNF292	-	NULL		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	G	NM_015021		87964650	1	no_errors	ENST00000369577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	87964650	G	A	87964650	3	1	164	1	0	0	0	0	1	0	0	0	17856	1377	48	4	1333	4	ZNF292	6	87964650	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	17088797	87964650	83150417	277	31065										
PNRC1	10957	genome.wustl.edu	37	chr6	89790830	89790830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgtgtctgaccccccagcctCgcgctccagcagctctgccc	9	21	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:89790830C>T	ENST00000336032.3	+	1	334	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	PNRC1_ENST00000369472.1_Intron|PNRC1_ENST00000354922.3_5'Flank|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CCCCCAGCCTCGCGCTCCAGC	0.706										Multiple Myeloma(7;0.094)																																							0													12	14	13					6																	89790830		2200	4290	6490	SO:0001583	missense	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.217C>T	6.37:g.89790830C>T	ENSP00000336931:p.Arg73Cys		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	NULL	p.R73C	ENST00000336032.3	37	c.217	CCDS5018.1	6	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080339	0.36662	.	.	ENSG00000146278	ENST00000336032	T	0.47528	0.84	4.93	4.05	0.47172	.	0.279283	0.29861	N	0.011018	T	0.38054	0.1026	L	0.44542	1.39	0.24876	N	0.992257	D;D	0.71674	0.998;0.998	P;P	0.59288	0.736;0.855	T	0.18178	-1.0345	10	0.59425	D	0.04	-2.6705	8.4979	0.33138	0.1526:0.7678:0.0:0.0796	.	73;73	Q12796;Q7Z5N0	PNRC1_HUMAN;.	C	73	ENSP00000336931:R73C	ENSP00000336931:R73C	R	+	1	0	PNRC1	89847549	0.978000	0.34361	0.056000	0.19401	0.028000	0.11728	3.073000	0.50057	1.276000	0.44395	0.555000	0.69702	CGC	PNRC1	-	NULL		0.706	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNRC1	HGNC	protein_coding	OTTHUMT00000041471.1	C	NM_006813		89790830	1	no_errors	ENST00000336032	ensembl	human	known	70_37	missense	SNP	0.115	T	T	89790830	C	T	89790830	3	4	164	1	0	0	0	0	1	0	0	0	12198	884	31	1	219	1	PNRC1	6	89790830	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1826180	89790830	81324237	278	31066										
MDN1	23195	genome.wustl.edu	37	chr6	90383048	90383048	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcttacatattccagactttCaactagtgccatttgtgagt	6	9	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:90383048C>T	ENST00000369393.3	-	80	13496	c.13381G>A	c.(13381-13383)Gaa>Aaa	p.E4461K	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.E4461K|MDN1_ENST00000468568.1_5'Flank			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4461					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCAGACTTTCAACTAGTGCC	0.453																																																	0													106	100	102					6																	90383048		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13381G>A	6.37:g.90383048C>T	ENSP00000358400:p.Glu4461Lys		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E4461K	ENST00000369393.3	37	c.13381	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237850	0.22711	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02890	4.12;4.12	5.95	1.55	0.23275	.	0.266963	0.37483	N	0.002071	T	0.00552	0.0018	N	0.16368	0.405	0.24564	N	0.993955	B	0.02656	0.0	B	0.04013	0.001	T	0.48479	-0.9032	10	0.28530	T	0.3	.	3.5242	0.07753	0.0:0.335:0.2017:0.4633	.	4461	Q9NU22	MDN1_HUMAN	K	4461	ENSP00000358400:E4461K;ENSP00000413970:E4461K	ENSP00000358400:E4461K	E	-	1	0	MDN1	90439769	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	1.264000	0.33015	0.383000	0.24910	-0.140000	0.14226	GAA	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90383048	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90383048	C	T	90383048	3	4	164	1	0	0	0	0	1	0	0	0	9438	835	29	1	3501	1	MDN1	6	90383048	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	592218	90383048	80732019	279	31067										
MDN1	23195	genome.wustl.edu	37	chr6	90466072	90466072	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aataagaacctgtaagtcttCtttgctttctaattcttcta	4	8	5	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:90466072C>T	ENST00000369393.3	-	20	2855	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	MDN1_ENST00000428876.1_Missense_Mutation_p.E914K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	914					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTAAGTCTTCTTTGCTTTCT	0.299																																																	0													174	173	174					6																	90466072		2203	4296	6499	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2740G>A	6.37:g.90466072C>T	ENSP00000358400:p.Glu914Lys		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E914K	ENST00000369393.3	37	c.2740	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473069	0.43942	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.48522	0.81;0.81;0.81	5.95	5.95	0.96441	.	0.184288	0.48767	D	0.000180	T	0.18467	0.0443	L	0.29908	0.895	0.31067	N	0.713506	B;B	0.20887	0.049;0.017	B;B	0.15484	0.011;0.013	T	0.03728	-1.1009	10	0.10902	T	0.67	.	15.9279	0.79635	0.1357:0.8643:0.0:0.0	.	841;914	Q5T795;Q9NU22	.;MDN1_HUMAN	K	914;914;841	ENSP00000358400:E914K;ENSP00000413970:E914K;ENSP00000409664:E841K	ENSP00000358400:E914K	E	-	1	0	MDN1	90522793	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.207000	0.51106	2.826000	0.97356	0.563000	0.77884	GAA	MDN1	-	pirsf_Midasin		0.299	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90466072	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90466072	C	T	90466072	3	4	164	1	0	0	0	0	1	0	0	0	9438	922	32	1	14382	1	MDN1	6	90466072	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	83024	90466072	80648995	280	31068										
ARMC2	84071	genome.wustl.edu	37	chr6	109232115	109232115	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctgcagcttaaagtgagtaGaaagaatcttcttaatgtct	8	6	4	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:109232115G>C	ENST00000392644.4	+	9	1205	c.1037G>C	c.(1036-1038)aGa>aCa	p.R346T	ARMC2_ENST00000368972.3_Missense_Mutation_p.R181T	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	346										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAGTGAGTAGAAAGAATCTT	0.303																																																	0													36	37	37					6																	109232115		2200	4293	6493	SO:0001583	missense	84071			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1037G>C	6.37:g.109232115G>C	ENSP00000376417:p.Arg346Thr		A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.R346T	ENST00000392644.4	37	c.1037	CCDS5069.2	6	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757521	0.49468	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.32753	1.44;1.45	5.19	5.19	0.71726	.	0.096535	0.64402	D	0.000001	T	0.14570	0.0352	L	0.36672	1.1	0.29822	N	0.830758	B	0.27625	0.183	B	0.19666	0.026	T	0.05903	-1.0857	10	0.45353	T	0.12	.	18.7136	0.91667	0.0:0.0:1.0:0.0	.	346	Q8NEN0	ARMC2_HUMAN	T	181;346	ENSP00000357968:R181T;ENSP00000376417:R346T	ENSP00000357968:R181T	R	+	2	0	ARMC2	109338808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.324000	0.65863	2.394000	0.81467	0.591000	0.81541	AGA	ARMC2	-	NULL		0.303	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2	G	NM_032131		109232115	1	no_errors	ENST00000392644	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109232115	G	C	109232115	3	2	164	1	0	0	0	0	1	0	0	0	952	942	33	1	1067	1	ARMC2	6	109232115	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	18766043	109232115	61882952	281	31069										
AMD1	262	genome.wustl.edu	37	chr6	111214813	111214813	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagaagcagcaacaacagcaGagttgattaagaaaaatgaa	9	5	0	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:111214813G>C	ENST00000368885.3	+	9	1335	c.999G>C	c.(997-999)caG>caC	p.Q333H	AMD1_ENST00000368876.1_Missense_Mutation_p.Q264H|AMD1_ENST00000368882.3_Missense_Mutation_p.Q185H|AMD1_ENST00000451850.2_Missense_Mutation_p.Q213H|AMD1_ENST00000368877.5_Missense_Mutation_p.Q304H	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	333					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AACAACAGCAGAGTTGATTAA	0.383																																																	0													61	55	57					6																	111214813		2203	4300	6503	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.999G>C	6.37:g.111214813G>C	ENSP00000357880:p.Gln333His		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.Q333H	ENST00000368885.3	37	c.999	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339441	0.24339	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	5.88	5.88	0.94601	.	0.347014	0.33309	N	0.005054	T	0.23410	0.0566	N	0.04508	-0.205	0.50813	D	0.999896	B;B;B	0.13145	0.0;0.001;0.007	B;B;B	0.12156	0.001;0.002;0.007	T	0.07009	-1.0795	9	0.35671	T	0.21	.	16.6737	0.85273	0.0:0.138:0.862:0.0	.	213;304;333	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	H	333;185;213;304;264	.	ENSP00000357870:Q264H	Q	+	3	2	AMD1	111321506	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.488000	0.53229	2.781000	0.95711	0.591000	0.81541	CAG	AMD1	-	pirsf_S-AdoMet_decarboxylase_subgr		0.383	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G			111214813	1	no_errors	ENST00000368885	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111214813	G	C	111214813	3	2	164	1	0	0	0	0	1	0	0	0	566	933	33	1	1033	1	AMD1	6	111214813	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1982698	111214813	59900254	282	31070										
C6orf174	387104	genome.wustl.edu	37	chr6	127834155	127834155	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctcttttcttccacattttCtaattcatggtgaagtctca	4	10	5	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:127834155C>T	ENST00000525778.1	-	4	2111	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	SOGA3_ENST00000368268.2_Missense_Mutation_p.E456K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E456K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E456K|SOGA3_ENST00000556132.1_Missense_Mutation_p.E456K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	456					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCCACATTTTCTAATTCATGG	0.318																																																	0													138	117	123					6																	127834155		1824	4101	5925	SO:0001583	missense	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1366G>A	6.37:g.127834155C>T	ENSP00000434570:p.Glu456Lys			Missense_Mutation	SNP	pfam_DUF3166	p.E456K	ENST00000525778.1	37	c.1366	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.839779	0.97009	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.37210	0.0995	M	0.82323	2.585	0.80722	D	1	P	0.47545	0.897	P	0.48873	0.593	T	0.32534	-0.9903	10	0.54805	T	0.06	-15.3566	19.7987	0.96497	0.0:1.0:0.0:0.0	.	456	Q5TF21	CF174_HUMAN	K	456	ENSP00000451768:E456K;ENSP00000357251:E456K;ENSP00000434570:E456K;ENSP00000435559:E456K	ENSP00000435559:E456K	E	-	1	0	C6orf174	127875848	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.767000	0.95098	0.655000	0.94253	GAA	SOGA3	-	NULL		0.318	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	C	NM_001012279		127834155	-1	no_errors	ENST00000368268	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127834155	C	T	127834155	3	4	164	1	0	0	0	0	1	0	0	0	2350	922	32	1	1493	1	C6orf174	6	127834155	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	16619342	127834155	43280912	283	31071										
ECT2L	345930	genome.wustl.edu	37	chr6	139203879	139203879	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggcagtttctagataacctGagagacagactgcaggaatg	12	7	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:139203879G>A	ENST00000423192.1	+	15	2060	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	ECT2L_ENST00000367682.2_Silent_p.L633L|ECT2L_ENST00000541398.1_Silent_p.L564L			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	633	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAGATAACCTGAGAGACAGAC	0.413			"N, Splice, Mis"		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													91	88	89					6																	139203879		1905	4128	6033	SO:0001819	synonymous_variant	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1899G>A	6.37:g.139203879G>A			B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain	p.L633	ENST00000423192.1	37	c.1899	CCDS43508.1	6																																																																																			ECT2L	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.413	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	G	NM_001077706		139203879	1	no_errors	ENST00000367682	ensembl	human	known	70_37	silent	SNP	0.983	A	A	139203879	G	A	139203879	2	1	164	1	0	0	0	0	0	0	0	1	4912	1277	45	1		1	ECT2L	6	139203879	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	11369724	139203879	31911188	284	31072										
LTV1	84946	genome.wustl.edu	37	chr6	144184640	144184640	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagctgctgaacttgaagaaGaatgttgagggtctaaagct	13	5	1	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:144184640G>A	ENST00000367576.5	+	11	1538	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	ZC2HC1B_ENST00000237275.6_5'Flank|ZC2HC1B_ENST00000539295.1_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	468						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ACTTGAAGAAGAATGTTGAGG	0.393																																																	0													92	90	91					6																	144184640		2203	4300	6503	SO:0001819	synonymous_variant	84946			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 93", "LTV1 homolog (S. cerevisiae)"	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.1404G>A	6.37:g.144184640G>A			Q96JX8	Silent	SNP	pfam_LTV	p.K468	ENST00000367576.5	37	c.1404	CCDS5201.1	6																																																																																			LTV1	-	NULL		0.393	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTV1	HGNC	protein_coding	OTTHUMT00000042532.1	G	NM_032860		144184640	1	no_errors	ENST00000367576	ensembl	human	known	70_37	silent	SNP	0.732	A	A	144184640	G	A	144184640	2	1	164	1	0	0	0	0	0	0	0	1	9104	933	33	1		1	LTV1	6	144184640	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4980761	144184640	26930427	285	31073										
UTRN	7402	genome.wustl.edu	37	chr6	145079123	145079123	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aataaagtgccctattacatCaagtaagttgattttaattc	5	6	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:145079123C>T	ENST00000367545.3	+	57	8493	c.8493C>T	c.(8491-8493)atC>atT	p.I2831I	UTRN_ENST00000367526.4_Silent_p.I386I|UTRN_ENST00000480333.1_3'UTR	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2831	Interaction with SYNM.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTATTACATCAAGTAAGTTG	0.353																																																	0													155	145	148					6																	145079123		2203	4299	6502	SO:0001819	synonymous_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8493C>T	6.37:g.145079123C>T			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.I2831	ENST00000367545.3	37	c.8493	CCDS34547.1	6																																																																																			UTRN	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pirsf_Dystrophin/utrophin,pfscan_WW_Rsp5_WWP		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	C			145079123	1	no_errors	ENST00000367545	ensembl	human	known	70_37	silent	SNP	1.000	T	T	145079123	C	T	145079123	2	4	164	1	0	0	0	0	0	0	0	1	17134	816	29	1		1	UTRN	6	145079123	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	894483	145079123	26035944	286	31074										
SYNE1	23345	genome.wustl.edu	37	chr6	152754964	152754964	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttgcatgtccatggcagatGacgaagtttccaaggcattg	11	8	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:152754964G>A	ENST00000367255.5	-	34	5028	c.4427C>T	c.(4426-4428)tCa>tTa	p.S1476L	SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1476L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1546L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1483L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1483L|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1476L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1476					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		CATGGCAGATGACGAAGTTTC	0.378										HNSCC(10;0.0054)																																							0													168	155	160					6																	152754964		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4427C>T	6.37:g.152754964G>A	ENSP00000356224:p.Ser1476Leu		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1476L	ENST00000367255.5	37	c.4427	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533348	0.45073	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.54071	1.75;1.75;1.75;1.75;0.59;1.75	5.83	5.83	0.93111	.	0.138538	0.33382	N	0.004972	T	0.45094	0.1325	M	0.66939	2.045	0.80722	D	1	B;B;B;B;B	0.32573	0.376;0.046;0.328;0.046;0.046	B;B;B;B;B	0.34242	0.154;0.031;0.178;0.031;0.02	T	0.41360	-0.9513	10	0.33940	T	0.23	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1459;1476;1476;1476;1483	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	L	1476;1483;1476;1483;1546;1476	ENSP00000356224:S1476L;ENSP00000396024:S1483L;ENSP00000265368:S1476L;ENSP00000390975:S1483L;ENSP00000341887:S1546L;ENSP00000356222:S1476L	ENSP00000265368:S1476L	S	-	2	0	SYNE1	152796657	0.998000	0.40836	0.934000	0.37439	0.992000	0.81027	3.545000	0.53648	2.753000	0.94483	0.585000	0.79938	TCA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152754964	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.992	A	A	152754964	G	A	152754964	3	1	164	1	0	0	0	0	1	0	0	0	15475	1294	45	1	22491	1	SYNE1	6	152754964	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7675841	152754964	18360103	287	31075										
UNCX	340260	genome.wustl.edu	37	chr7	1273250	1273250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctggaggagctggagaaggcGttcaacgagagccactatcc	14	10	1	2	rs559130948		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:1273250G>A	ENST00000316333.8	+	2	480	c.369G>A	c.(367-369)gcG>gcA	p.A123A		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	123					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGGAGAAGGCGTTCAACGAGA	0.677													G|||	1	0.000199681	0	0	5008	,	,		8913	0.001		0	False		,,,				2504	0																0													44	44	44					7																	1273250		2203	4300	6503	SO:0001819	synonymous_variant	340260				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"Homeoboxes / PRD class"	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.369G>A	7.37:g.1273250G>A			A4D221	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A123	ENST00000316333.8	37	c.369	CCDS34583.1	7																																																																																			UNCX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.677	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	G	NM_001080461		1273250	1	no_errors	ENST00000316333	ensembl	human	known	70_37	silent	SNP	0.994	A	A	1273250	G	A	1273250	2	1	164	1	0	0	0	0	0	0	0	1	17029	1132	40	2		2	UNCX	7	1273250	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		1273250	157865413	288	31076										
RSPH10B	222967	genome.wustl.edu	37	chr7	5967906	5967906	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctgtctgcccttattttctCcttgatagcttcttcacgtt	5	13	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:5967906C>G	ENST00000405415.1	-	19	2739	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q	RSPH10B_ENST00000441023.2_Missense_Mutation_p.E785Q|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E785Q|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.E785Q|RSPH10B_ENST00000535104.1_5'UTR			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	785										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		CTTATTTTCTCCTTGATAGCT	0.473																																																	0													156	141	146					7																	5967906		2200	4297	6497	SO:0001583	missense	222967				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.2353G>C	7.37:g.5967906C>G	ENSP00000385443:p.Glu785Gln		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E785Q	ENST00000405415.1	37	c.2353	CCDS34598.1	7	.	.	.	.	.	.	.	.	.	.	C	6.273	0.418506	0.11870	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	4.79	2.97	0.34412	.	0.633514	0.13589	N	0.376749	T	0.47563	0.1452	L	0.41961	1.31	0.80722	D	1	B	0.14805	0.011	B	0.12837	0.008	T	0.38001	-0.9681	10	0.51188	T	0.08	.	8.0291	0.30454	0.0:0.7529:0.1595:0.0876	.	785	P0C881	R10B1_HUMAN	Q	785	ENSP00000385443:E785Q;ENSP00000384097:E785Q;ENSP00000338556:E785Q;ENSP00000400988:E785Q	ENSP00000338556:E785Q	E	-	1	0	RSPH10B	5934432	1.000000	0.71417	0.980000	0.43619	0.002000	0.02628	1.041000	0.30291	0.579000	0.29504	-0.926000	0.02714	GAG	RSPH10B	-	NULL		0.473	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B	HGNC	protein_coding	OTTHUMT00000325465.2	C	NM_173565		5967906	-1	no_errors	ENST00000337579	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5967906	C	G	5967906	3	3	164	1	0	0	0	0	1	0	0	0	13733	864	30	1	267	1	RSPH10B	7	5967906	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4694656	5967906	153170757	289	31077										
USP42	84132	genome.wustl.edu	37	chr7	6154999	6154999	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acagaaagttcttttcccatCtgagaagatttgtcttaagt	7	7	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:6154999C>G	ENST00000306177.5	+	3	445	c.287C>G	c.(286-288)tCt>tGt	p.S96C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	96					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CTTTTCCCATCTGAGAAGATT	0.428																																																	0													124	115	118					7																	6154999		1874	4101	5975	SO:0001583	missense	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.287C>G	7.37:g.6154999C>G	ENSP00000301962:p.Ser96Cys		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S96C	ENST00000306177.5	37	c.287	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111326	0.77210	.	.	ENSG00000106346	ENST00000306177	T	0.16073	2.37	5.61	4.73	0.59995	.	0.204155	0.35207	N	0.003374	T	0.25269	0.0614	N	0.24115	0.695	0.32728	N	0.509417	D;D	0.63880	0.993;0.988	P;P	0.61328	0.887;0.775	T	0.28038	-1.0056	10	0.51188	T	0.08	.	14.6911	0.69087	0.0:0.9301:0.0:0.0699	.	96;96	Q9H9J4-2;Q9H9J4	.;UBP42_HUMAN	C	96	ENSP00000301962:S96C	ENSP00000301962:S96C	S	+	2	0	USP42	6121525	0.997000	0.39634	0.980000	0.43619	0.974000	0.67602	4.918000	0.63376	1.368000	0.46115	0.655000	0.94253	TCT	USP42	-	NULL		0.428	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	C	XM_166526		6154999	1	no_errors	ENST00000306177	ensembl	human	known	70_37	missense	SNP	0.979	G	G	6154999	C	G	6154999	3	3	164	1	0	0	0	0	1	0	0	0	17104	913	32	1	293	1	USP42	7	6154999	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	187093	6154999	152983664	290	31078										
RSPH10B	728194	genome.wustl.edu	37	chr7	6836318	6836318	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aacgtgaagaagctatcaagGagaaaataagggcagacagg	13	5	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:6836318G>C	ENST00000403107.1	+	19	2740	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q	CCZ1B_ENST00000597208.1_Intron|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E785Q|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E785Q|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E785Q|RSPH10B2_ENST00000463354.2_3'UTR|RSPH10B2_ENST00000359718.3_3'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	785										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						AGCTATCAAGGAGAAAATAAG	0.478																																																	0													74	73	73					7																	6836318		1815	3801	5616	SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.2353G>C	7.37:g.6836318G>C	ENSP00000384766:p.Glu785Gln		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E785Q	ENST00000403107.1	37	c.2353	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830716	0.32329	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	2.94	2.94	0.34122	.	0.633514	0.13589	N	0.376749	T	0.48040	0.1478	L	0.41961	1.31	0.80722	D	1	B	0.14805	0.011	B	0.12837	0.008	T	0.49943	-0.8885	10	0.51188	T	0.08	.	9.5156	0.39104	0.0:0.0:1.0:0.0	.	785	B2RC85	R10B2_HUMAN	Q	785	ENSP00000384766:E785Q;ENSP00000386102:E785Q;ENSP00000297186:E785Q;ENSP00000416710:E785Q	ENSP00000297186:E785Q	E	+	1	0	RSPH10B2	6802843	1.000000	0.71417	0.750000	0.31169	0.221000	0.24807	1.449000	0.35123	1.627000	0.50400	0.187000	0.17357	GAG	RSPH10B2	-	NULL		0.478	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	G	NM_001099697		6836318	1	no_errors	ENST00000297186	ensembl	human	known	70_37	missense	SNP	0.943	C	C	6836318	G	C	6836318	3	2	164	1	0	0	0	0	1	0	0	0	13733	1175	41	1	5112	1	RSPH10B	7	6836318	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	681319	6836318	152302345	291	31079										
HOXA7	3204	genome.wustl.edu	37	chr7	27196076	27196076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctgtgagttgggagcaaagGagcaagaagtcggctcggca	16	7	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:27196076G>A	ENST00000242159.3	-	1	222	c.89C>T	c.(88-90)tCc>tTc	p.S30F	HOXA7_ENST00000523796.2_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.21_ENST00000602610.1_lincRNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	30					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GGGAGCAAAGGAGCAAGAAGT	0.537																																																	0													54	69	64					7																	27196076		2200	4297	6497	SO:0001583	missense	3204				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"Homeoboxes / ANTP class : HOXL subclass"	5108	protein-coding gene	gene with protein product		142950	"homeo box A7"	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.89C>T	7.37:g.27196076G>A	ENSP00000242159:p.Ser30Phe		A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S30F	ENST00000242159.3	37	c.89	CCDS5408.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357746	0.82243	.	.	ENSG00000122592	ENST00000242159;ENST00000519842	T;T	0.71222	1.48;-0.55	5.32	5.32	0.75619	.	0.203927	0.42294	D	0.000722	T	0.76499	0.3996	M	0.66939	2.045	0.51233	D	0.999917	D	0.57899	0.981	P	0.48840	0.592	T	0.79332	-0.1847	10	0.59425	D	0.04	.	18.9741	0.92728	0.0:0.0:1.0:0.0	.	30	P31268	HXA7_HUMAN	F	30	ENSP00000242159:S30F;ENSP00000428563:S30F	ENSP00000242159:S30F	S	-	2	0	HOXA7	27162601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.893000	0.63199	2.656000	0.90262	0.561000	0.74099	TCC	HOXA7	-	NULL		0.537	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA7	HGNC	protein_coding	OTTHUMT00000358695.1	G			27196076	-1	no_errors	ENST00000242159	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27196076	G	A	27196076	3	1	164	1	0	0	0	0	1	0	0	0	7317	1174	41	1	611	1	HOXA7	7	27196076	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	20359758	27196076	131942587	292	31080										
CPVL	54504	genome.wustl.edu	37	chr7	29126135	29126135	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaagtcattatttttatattCaggaaatatctggaaaaact	5	4	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:29126135C>T	ENST00000409850.1	-	11	1220	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	CPVL_ENST00000396276.3_Missense_Mutation_p.E192K|AC007096.1_ENST00000411120.1_RNA|CPVL_ENST00000265394.5_Missense_Mutation_p.E192K			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	192						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTTTTATATTCAGGAAATATC	0.343																																																	0													71	77	75					7																	29126135		2203	4298	6501	SO:0001583	missense	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.574G>A	7.37:g.29126135C>T	ENSP00000387164:p.Glu192Lys		A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.E192K	ENST00000409850.1	37	c.574	CCDS5419.1	7	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119314	0.37436	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.8	5.8	0.92144	.	0.045148	0.85682	D	0.000000	D	0.88819	0.6540	M	0.80332	2.49	0.58432	D	0.999996	P	0.35192	0.489	B	0.38755	0.281	D	0.88028	0.2773	10	0.45353	T	0.12	-0.0058	15.5495	0.76137	0.1386:0.8614:0.0:0.0	.	192	Q9H3G5	CPVL_HUMAN	K	192;192;192;76;122;76;122	ENSP00000265394:E192K;ENSP00000379572:E192K;ENSP00000387164:E192K;ENSP00000409036:E122K;ENSP00000417015:E76K;ENSP00000395690:E122K	ENSP00000265394:E192K	E	-	1	0	CPVL	29092660	1.000000	0.71417	0.994000	0.49952	0.028000	0.11728	4.838000	0.62803	2.748000	0.94277	0.655000	0.94253	GAA	CPVL	-	pfam_Peptidase_S10,prints_Peptidase_S10		0.343	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	C	NM_019029		29126135	-1	no_errors	ENST00000265394	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29126135	C	T	29126135	3	4	164	1	0	0	0	0	1	0	0	0	3840	835	29	1	884	1	CPVL	7	29126135	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1930059	29126135	130012528	293	31081										
PLEKHA8	84725	genome.wustl.edu	37	chr7	30101579	30101579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tccagaagatagtgctgcacGaagtggaggcggatgtagcc	15	8	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:30101579G>A	ENST00000449726.1	+	11	1515	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.E389K|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.E389K|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.E389K	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	389	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGTGCTGCACGAAGTGGAGGC	0.473											OREG0017934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													64	60	62					7																	30101579		2203	4297	6500	SO:0001583	missense	84725			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1165G>A	7.37:g.30101579G>A	ENSP00000397947:p.Glu389Lys	814	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E389K	ENST00000449726.1	37	c.1165	CCDS56473.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055487	0.75960	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.57	5.57	0.84162	Glycolipid transfer protein domain (3);	0.048785	0.85682	D	0.000000	D	0.84061	0.5389	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	0.993;0.994;0.999;1.0	P;P;D;D	0.76575	0.702;0.803;0.988;0.954	D	0.86300	0.1679	9	0.87932	D	0	-39.8026	18.1181	0.89563	0.0:0.0:1.0:0.0	.	389;389;389;389	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	K	389;389;389;389;415	.	ENSP00000258679:E389K	E	+	1	0	PLEKHA8	30068104	1.000000	0.71417	0.956000	0.39512	0.332000	0.28634	8.068000	0.89490	2.634000	0.89283	0.563000	0.77884	GAA	PLEKHA8	-	pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom		0.473	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA8	HGNC	protein_coding		G	NM_032639		30101579	1	no_errors	ENST00000449726	ensembl	human	known	70_37	missense	SNP	0.997	A	A	30101579	G	A	30101579	3	1	164	1	0	0	0	0	1	0	0	0	12086	1059	37	1	1207	1	PLEKHA8	7	30101579	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	975444	30101579	129037084	294	31082										
BMPER	168667	genome.wustl.edu	37	chr7	34118526	34118526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caacacttttgacggtcggaCatttaactttcaggggacgt	10	9	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:34118526C>T	ENST00000297161.2	+	13	1510	c.1136C>T	c.(1135-1137)aCa>aTa	p.T379I	BMPER_ENST00000426693.1_Missense_Mutation_p.T379I	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	379	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GACGGTCGGACATTTAACTTT	0.567																																																	0													94	101	99					7																	34118526		2203	4300	6503	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1136C>T	7.37:g.34118526C>T	ENSP00000297161:p.Thr379Ile		A8K1P8|Q8TF36	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.T379I	ENST00000297161.2	37	c.1136	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007577	0.75046	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.61040	0.14;0.14	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	N	0.25144	0.715	0.80722	D	1	P	0.40398	0.716	B	0.43052	0.406	T	0.38134	-0.9675	10	0.21014	T	0.42	.	20.2079	0.98282	0.0:1.0:0.0:0.0	.	379	Q8N8U9	BMPER_HUMAN	I	379	ENSP00000297161:T379I;ENSP00000393950:T379I	ENSP00000297161:T379I	T	+	2	0	BMPER	34085051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.781000	0.95711	0.655000	0.94253	ACA	BMPER	-	pfam_VWF_type-D,smart_VWF_type-D		0.567	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	C	NM_133468		34118526	1	no_errors	ENST00000297161	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34118526	C	T	34118526	3	4	164	1	0	0	0	0	1	0	0	0	1469	478	17	4	1182	4	BMPER	7	34118526	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4016947	34118526	125020137	295	31083										
TXNDC3	51314	genome.wustl.edu	37	chr7	37936490	37936490	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggggtccatctatggtcatGattctgaccaagtggaatgc	12	8	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:37936490G>A	ENST00000199447.4	+	17	1935	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	NME8_ENST00000440017.1_Missense_Mutation_p.M521I|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	521	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CTATGGTCATGATTCTGACCA	0.488																																																	0													118	113	115					7																	37936490		2203	4300	6503	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1563G>A	7.37:g.37936490G>A	ENSP00000199447:p.Met521Ile		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.M521I	ENST00000199447.4	37	c.1563	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926980	0.34002	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.47528	0.84;0.84	5.54	5.54	0.83059	.	0.192784	0.37012	N	0.002281	T	0.70124	0.3188	M	0.86343	2.81	0.51233	D	0.999915	P	0.40834	0.73	P	0.53518	0.728	T	0.72527	-0.4266	10	0.56958	D	0.05	-17.6426	18.6116	0.91286	0.0:0.0:1.0:0.0	.	521	Q8N427	TXND3_HUMAN	I	521	ENSP00000199447:M521I;ENSP00000397063:M521I	ENSP00000199447:M521I	M	+	3	0	TXNDC3	37903015	1.000000	0.71417	0.183000	0.23137	0.202000	0.24057	4.665000	0.61547	2.779000	0.95612	0.655000	0.94253	ATG	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.488	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	G	NM_016616		37936490	1	no_errors	ENST00000199447	ensembl	human	known	70_37	missense	SNP	0.839	A	A	37936490	G	A	37936490	3	1	164	1	0	0	0	0	1	0	0	0	16829	1290	45	1	1621	1	TXNDC3	7	37936490	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3817964	37936490	121202173	296	31084										
HECW1	23072	genome.wustl.edu	37	chr7	43484406	43484406	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtgtccgagctggagacggtGatcgcgtcagcctgcgggga	18	10	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:43484406G>A	ENST00000395891.2	+	11	2240	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V	HECW1_ENST00000453890.1_Silent_p.V545V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	545					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGAGACGGTGATCGCGTCAG	0.682																																																	0													42	51	48					7																	43484406		2109	4222	6331	SO:0001819	synonymous_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1635G>A	7.37:g.43484406G>A			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.V545	ENST00000395891.2	37	c.1635	CCDS5469.2	7																																																																																			HECW1	-	NULL		0.682	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43484406	1	no_errors	ENST00000395891	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43484406	G	A	43484406	2	1	164	1	0	0	0	0	0	0	0	1	7062	1277	45	1		1	HECW1	7	43484406	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5547916	43484406	115654257	297	31085										
DBNL	28988	genome.wustl.edu	37	chr7	44097863	44097863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctatcaggagcagggtggcGaggccagcccccagaggtga	17	11	1	2	rs541074419		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:44097863G>A	ENST00000448521.1	+	7	786	c.688G>A	c.(688-690)Gag>Aag	p.E230K	DBNL_ENST00000468694.1_Missense_Mutation_p.E230K|DBNL_ENST00000494774.1_Missense_Mutation_p.E230K|DBNL_ENST00000440166.1_Missense_Mutation_p.E127K|DBNL_ENST00000490734.2_Missense_Mutation_p.E135K|DBNL_ENST00000452943.1_Missense_Mutation_p.E205K|DBNL_ENST00000456905.1_Missense_Mutation_p.E181K|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	230					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GCAGGGTGGCGAGGCCAGCCC	0.716													G|||	1	0.000199681	0	0	5008	,	,		17458	0		0	False		,,,				2504	0.001				NSCLC(68;573 1327 18604 34760 37992)												0													10	13	12					7																	44097863		2186	4280	6466	SO:0001583	missense	28988			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.688G>A	7.37:g.44097863G>A	ENSP00000411701:p.Glu230Lys		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain	p.E230K	ENST00000448521.1	37	c.688	CCDS34623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.43|15.43	2.831121|2.831121	0.50845|0.50845	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475|ENST00000432854	T;T;T;T;T;T;T|.	0.33216|.	1.92;2.2;2.21;2.2;1.42;1.86;2.14|.	4.51|4.51	0.841|0.841	0.18918|0.18918	.|.	53.483800|.	0.00166|.	U|.	0.000000|.	T|T	0.25121|0.25121	0.0610|0.0610	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P;B;B;B;B;B;B;B;B|.	0.43750|.	0.816;0.003;0.027;0.011;0.177;0.027;0.005;0.001;0.001|.	B;B;B;B;B;B;B;B;B|.	0.28011|.	0.085;0.002;0.004;0.002;0.019;0.003;0.006;0.001;0.003|.	T|T	0.25606|0.25606	-1.0127|-1.0127	10|5	0.37606|.	T|.	0.19|.	9.0813|9.0813	5.7406|5.7406	0.18092|0.18092	0.1633:0.0:0.6166:0.2201|0.1633:0.0:0.6166:0.2201	.|.	127;178;160;181;135;205;230;230;230|.	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2|.	.;.;.;.;.;.;.;DBNL_HUMAN;.|.	K|Q	230;181;127;205;230;230;135;160|158	ENSP00000411701:E230K;ENSP00000416421:E181K;ENSP00000415173:E127K;ENSP00000405343:E205K;ENSP00000417653:E230K;ENSP00000419992:E230K;ENSP00000417749:E135K|.	ENSP00000415173:E127K|.	E|R	+|+	1|2	0|0	DBNL|DBNL	44064388|44064388	0.216000|0.216000	0.23585|0.23585	0.000000|0.000000	0.03702|0.03702	0.789000|0.789000	0.44602|0.44602	0.610000|0.610000	0.24253|0.24253	-0.077000|-0.077000	0.12752|0.12752	0.306000|0.306000	0.20318|0.20318	GAG|CGA	DBNL	-	NULL		0.716	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2	G	NM_014063		44097863	1	no_errors	ENST00000468694	ensembl	human	known	70_37	missense	SNP	0.001	A	A	44097863	G	A	44097863	3	1	164	1	0	0	0	0	1	0	0	0	4260	1059	37	1	714	1	DBNL	7	44097863	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	613457	44097863	115040800	298	31086										
ABCA13	154664	genome.wustl.edu	37	chr7	48318457	48318457	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggacagtgtgaaattctttGacactctgtattccatcatg	8	8	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:48318457G>A	ENST00000435803.1	+	18	7690	c.7666G>A	c.(7666-7668)Gac>Aac	p.D2556N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2556					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAATTCTTTGACACTCTGTA	0.318																																																	0													97	102	100					7																	48318457		1828	4075	5903	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7666G>A	7.37:g.48318457G>A	ENSP00000411096:p.Asp2556Asn		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D2556N	ENST00000435803.1	37	c.7666	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	8.676	0.904072	0.17760	.	.	ENSG00000179869	ENST00000435803	T	0.61274	0.12	4.87	3.96	0.45880	.	0.252542	0.27739	N	0.018060	T	0.45994	0.1370	L	0.34521	1.04	0.20307	N	0.999912	P	0.36065	0.535	B	0.35813	0.211	T	0.44574	-0.9319	10	0.87932	D	0	.	10.9796	0.47486	0.0:0.1894:0.8106:0.0	.	2556	Q86UQ4	ABCAD_HUMAN	N	2556	ENSP00000411096:D2556N	ENSP00000411096:D2556N	D	+	1	0	ABCA13	48289003	0.019000	0.18553	0.003000	0.11579	0.023000	0.10783	1.342000	0.33919	1.017000	0.39495	0.655000	0.94253	GAC	ABCA13	-	NULL		0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48318457	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.012	A	A	48318457	G	A	48318457	3	1	164	1	0	0	0	0	1	0	0	0	31	1290	45	1	7565	1	ABCA13	7	48318457	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4220594	48318457	110820206	299	31087										
ZPBP	11055	genome.wustl.edu	37	chr7	50097646	50097646	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tccacagtaggtttatattcGaggaaacatgtataaattcc	7	7	0	0	rs199712637		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:50097646G>A	ENST00000046087.2	-	4	495	c.426C>T	c.(424-426)ctC>ctT	p.L142L	ZPBP_ENST00000419417.1_Silent_p.L141L|ZPBP_ENST00000491129.1_5'Flank	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	142					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GTTTATATTCGAGGAAACATG	0.323													g|||	1	0.000199681	0	0	5008	,	,		19399	0		0.001	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)											102	102	102					7																	50097646		2203	4300	6503	SO:0001819	synonymous_variant	11055			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.426C>T	7.37:g.50097646G>A			A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	pfam_Sp38-bd,pfscan_Ig-like	p.L142	ENST00000046087.2	37	c.426	CCDS5509.1	7																																																																																			ZPBP	-	pfam_Sp38-bd,pfscan_Ig-like		0.323	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	HGNC	protein_coding	OTTHUMT00000251374.1	G	NM_007009		50097646	-1	no_errors	ENST00000046087	ensembl	human	known	70_37	silent	SNP	0.151	A	A	50097646	G	A	50097646	2	1	164	1	0	0	0	0	0	0	0	1	18249	1045	37	1		1	ZPBP	7	50097646	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1779189	50097646	109041017	300	31088										
EGFR	1956	genome.wustl.edu	37	chr7	55249087	55249087	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcacgcagctcatgcccttCggctgcctcctggactatgt	9	15	2	0	rs375332959		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:55249087C>T	ENST00000275493.2	+	20	2562	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.F742F|EGFR_ENST00000455089.1_Silent_p.F750F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	795	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCATGCCCTTCGGCTGCCTCC	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0								C		1,4405	2.1+/-5.4	0,1,2202	95	82	86		2385	-5.8	0.5	7		86	0,8600		0,0,4300	no	coding-synonymous	EGFR	NM_005228.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		795/1211	55249087	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2385C>T	7.37:g.55249087C>T			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F795	ENST00000275493.2	37	c.2385	CCDS5514.1	7																																																																																			EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55249087	1	no_errors	ENST00000275493	ensembl	human	known	70_37	silent	SNP	0.896	T	T	55249087	C	T	55249087	2	4	164	1	0	0	0	0	0	0	0	1	4977	883	31	1		1	EGFR	7	55249087	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5151441	55249087	103889576	301	31089										
SEPT14	346288	genome.wustl.edu	37	chr7	55929647	55929647	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atacttaactgtatctccatCagcaggtatttgtgtgggca	9	8	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:55929647C>T	ENST00000388975.3	-	2	159	c.43G>A	c.(43-45)Gat>Aat	p.D15N	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	15					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTATCTCCATCAGCAGGTATT	0.294																																																	0													53	48	50					7																	55929647		1809	4071	5880	SO:0001583	missense	346288			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.43G>A	7.37:g.55929647C>T	ENSP00000373627:p.Asp15Asn		A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.D15N	ENST00000388975.3	37	c.43	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	c	6.149	0.395630	0.11638	.	.	ENSG00000154997	ENST00000388975	T	0.51817	0.69	2.3	0.453	0.16639	.	.	.	.	.	T	0.33498	0.0865	L	0.39898	1.24	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.24190	-1.0167	9	0.42905	T	0.14	.	4.317	0.10998	0.0:0.6516:0.0:0.3484	.	15	Q6ZU15	SEP14_HUMAN	N	15	ENSP00000373627:D15N	ENSP00000373627:D15N	D	-	1	0	SEPT14	55897141	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.326000	0.19646	0.092000	0.17331	-0.373000	0.07131	GAT	SEPT14	-	NULL		0.294	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	C	NM_207366		55929647	-1	no_errors	ENST00000388975	ensembl	human	known	70_37	missense	SNP	0.001	T	T	55929647	C	T	55929647	3	4	164	1	0	0	0	0	1	0	0	0	14093	826	29	1	1291	1	SEPT14	7	55929647	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	680560	55929647	103209016	302	31090										
ZNF92	168374	genome.wustl.edu	37	chr7	64863368	64863368	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acatgagaatttacagctaaGaaaagaccataaaagtgtgg	9	5	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:64863368G>A	ENST00000328747.7	+	4	540	c.341G>A	c.(340-342)aGa>aAa	p.R114K	ZNF92_ENST00000450302.2_Missense_Mutation_p.R45K|ZNF92_ENST00000431504.1_Missense_Mutation_p.R38K|ZNF92_ENST00000357512.2_Missense_Mutation_p.R82K	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	114					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTACAGCTAAGAAAAGACCAT	0.368																																																	0													90	92	91					7																	64863368		2203	4299	6502	SO:0001583	missense	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.341G>A	7.37:g.64863368G>A	ENSP00000332595:p.Arg114Lys		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R114K	ENST00000328747.7	37	c.341	CCDS34646.1	7	.	.	.	.	.	.	.	.	.	.	G	6.157	0.397139	0.11638	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.04917	3.62;3.53;3.57;3.55	0.418	0.418	0.16429	.	.	.	.	.	T	0.04588	0.0125	L	0.31371	0.925	0.19775	N	0.99996	B;B	0.18461	0.028;0.009	B;B	0.20577	0.03;0.013	T	0.45963	-0.9225	9	0.19147	T	0.46	.	6.6212	0.22804	1.0E-4:0.0:0.9999:0.0	.	82;114	Q03936-3;Q03936	.;ZNF92_HUMAN	K	114;38;82;45	ENSP00000332595:R114K;ENSP00000400495:R38K;ENSP00000350113:R82K;ENSP00000396126:R45K	ENSP00000332595:R114K	R	+	2	0	ZNF92	64500803	0.000000	0.05858	0.022000	0.16811	0.022000	0.10575	0.111000	0.15458	0.452000	0.26830	0.460000	0.39030	AGA	ZNF92	-	NULL		0.368	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF92	HGNC	protein_coding	OTTHUMT00000344589.2	G	NM_152626		64863368	1	no_errors	ENST00000328747	ensembl	human	known	70_37	missense	SNP	0.618	A	A	64863368	G	A	64863368	3	1	164	1	0	0	0	0	1	0	0	0	18231	942	33	1	355	1	ZNF92	7	64863368	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8933721	64863368	94275295	303	31091										
AUTS2	26053	genome.wustl.edu	37	chr7	70254876	70254876	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggagaaggacaaacccaaaGagagggagagagaccactcg	15	8	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:70254876G>C	ENST00000342771.4	+	19	2995	c.2674G>C	c.(2674-2676)Gag>Cag	p.E892Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.E868Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	892										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAAACCCAAAGAGAGGGAGAG	0.627																																																	0													49	49	49					7																	70254876		2203	4300	6503	SO:0001583	missense	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2674G>C	7.37:g.70254876G>C	ENSP00000344087:p.Glu892Gln		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.E892Q	ENST00000342771.4	37	c.2674	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468011	0.63625	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000418686	T;T	0.37411	1.25;1.2	5.07	5.07	0.68467	.	0.116692	0.56097	D	0.000026	T	0.42944	0.1225	L	0.52905	1.665	0.80722	D	1	B;D;D	0.56521	0.286;0.976;0.976	B;P;P	0.47251	0.221;0.542;0.542	T	0.32161	-0.9917	9	.	.	.	-15.1539	18.4886	0.90838	0.0:0.0:1.0:0.0	.	344;868;892	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	Q	868;892;172	ENSP00000385263:E868Q;ENSP00000344087:E892Q	.	E	+	1	0	AUTS2	69892812	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.166000	0.94766	2.355000	0.79922	0.655000	0.94253	GAG	AUTS2	-	NULL		0.627	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	G			70254876	1	no_errors	ENST00000342771	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70254876	G	C	70254876	3	2	164	1	0	0	0	0	1	0	0	0	1226	943	33	1	2893	1	AUTS2	7	70254876	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5391508	70254876	88883787	304	31092										
NSUN5	55695	genome.wustl.edu	37	chr7	72717964	72717964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggctcgctgctggaaccctGccagggcatgcagacgcacc	14	15	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:72717964G>A	ENST00000252594.6	-	8	1019	c.1004C>T	c.(1003-1005)gCa>gTa	p.A335V	NSUN5_ENST00000438747.2_Missense_Mutation_p.A335V|NSUN5_ENST00000310326.8_Missense_Mutation_p.A335V|NSUN5_ENST00000428206.1_Missense_Mutation_p.A297V			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	335					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTGGAACCCTGCCAGGGCATG	0.617																																																	0													41	44	43					7																	72717964		2203	4300	6503	SO:0001583	missense	55695			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.1004C>T	7.37:g.72717964G>A	ENSP00000252594:p.Ala335Val		B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.A335V	ENST00000252594.6	37	c.1004	CCDS5547.1	7	.	.	.	.	.	.	.	.	.	.	.	18.90	3.721731	0.68959	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.25	4.25	0.50352	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.208574	0.50627	D	0.000119	T	0.41236	0.1150	M	0.65320	2	0.44711	D	0.997705	D;D;D;D	0.67145	0.974;0.993;0.99;0.996	P;P;P;D	0.63192	0.722;0.888;0.897;0.912	T	0.35943	-0.9768	10	0.59425	D	0.04	.	15.8779	0.79180	0.0:0.0:1.0:0.0	.	335;297;335;335	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	V	297;335;335;335	ENSP00000393081:A297V;ENSP00000252594:A335V;ENSP00000388464:A335V;ENSP00000309126:A335V	ENSP00000252594:A335V	A	-	2	0	NSUN5	72355900	1.000000	0.71417	0.305000	0.25099	0.434000	0.31775	7.609000	0.82925	2.206000	0.71126	0.485000	0.47835	GCA	NSUN5	-	pfam_Fmu/NOL1/Nop2p		0.617	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	G	NM_148956		72717964	-1	no_errors	ENST00000438747	ensembl	human	known	70_37	missense	SNP	0.996	A	A	72717964	G	A	72717964	3	1	164	1	0	0	0	0	1	0	0	0	10705	1319	46	4	429	4	NSUN5	7	72717964	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2463088	72717964	86420699	305	31093										
ELN	2006	genome.wustl.edu	37	chr7	73483018	73483018	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctggggaaagcttgtggccgGaagagaaaatgagcttccta	14	7	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:73483018G>A	ENST00000252034.7	+	33	2562	c.2163G>A	c.(2161-2163)cgG>cgA	p.R721R	ELN_ENST00000380576.5_Silent_p.R702R|ELN_ENST00000429192.1_Silent_p.R689R|ELN_ENST00000320399.6_Silent_p.R754R|ELN_ENST00000414324.1_Silent_p.R697R|ELN_ENST00000445912.1_Silent_p.R703R|ELN_ENST00000320492.7_Silent_p.R640R|ELN_ENST00000358929.4_Silent_p.R789R|ELN_ENST00000380553.4_Silent_p.R567R|ELN_ENST00000380575.4_Silent_p.R674R|ELN_ENST00000380562.4_Silent_p.R727R|ELN_ENST00000458204.1_Silent_p.R711R|ELN_ENST00000357036.5_Silent_p.R708R|ELN_ENST00000380584.4_Silent_p.R655R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTTGTGGCCGGAAGAGAAAAT	0.577			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													135	119	125					7																	73483018		2203	4300	6503	SO:0001819	synonymous_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.2163G>A	7.37:g.73483018G>A			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	prints_Tropoelastin	p.R789	ENST00000252034.7	37	c.2367	CCDS5562.2	7																																																																																			ELN	-	prints_Tropoelastin		0.577	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	G	NM_000501		73483018	1	no_errors	ENST00000358929	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73483018	G	A	73483018	2	1	164	1	0	0	0	0	0	0	0	1	5083	1161	41	1		1	ELN	7	73483018	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	765054	73483018	85655645	306	31094										
PCLO	27445	genome.wustl.edu	37	chr7	82390753	82390753	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aactattagttgttcaccatCtgtcttcatttccttcttca	3	11	6	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:82390753C>T	ENST00000333891.9	-	23	15401	c.15064G>A	c.(15064-15066)Gat>Aat	p.D5022N		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTCACCATCTGTCTTCATT	0.313																																																	0													143	128	132					7																	82390753		1805	4059	5864	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15064G>A	7.37:g.82390753C>T	ENSP00000334319:p.Asp5022Asn			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.D5022N	ENST00000333891.9	37	c.15064	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428156	0.62844	.	.	ENSG00000186472	ENST00000333891	T	0.07908	3.15	5.33	5.33	0.75918	.	0.119123	0.30771	U	0.008908	T	0.15696	0.0378	N	0.12746	0.255	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.21552	-1.0242	10	0.87932	D	0	.	19.0274	0.92937	0.0:1.0:0.0:0.0	.	5022	Q9Y6V0-5	.	N	5022	ENSP00000334319:D5022N	ENSP00000334319:D5022N	D	-	1	0	PCLO	82228689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.470000	0.83445	0.650000	0.86243	GAT	PCLO	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.313	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82390753	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82390753	C	T	82390753	3	4	164	1	0	0	0	0	1	0	0	0	11607	913	32	1	376	1	PCLO	7	82390753	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8907735	82390753	76747910	307	31095										
SEMA3E	9723	genome.wustl.edu	37	chr7	83014705	83014705	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagcaaagtactgttgttctCtatgccataagccagatgtt	8	9	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:83014705C>T	ENST00000307792.3	-	16	2247	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E534K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	594	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTGTTGTTCTCTATGCCATAA	0.383																																																	0													202	177	185					7																	83014705		2203	4300	6503	SO:0001583	missense	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1780G>A	7.37:g.83014705C>T	ENSP00000303212:p.Glu594Lys		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.E594K	ENST00000307792.3	37	c.1780	CCDS34674.1	7	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045615	0.93685	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.01838	4.61;4.61	5.54	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	M	0.63208	1.945	0.80722	D	1	D	0.63046	0.992	P	0.60415	0.874	T	0.21655	-1.0239	10	0.33940	T	0.23	.	15.8514	0.78934	0.1368:0.8632:0.0:0.0	.	594	O15041	SEM3E_HUMAN	K	594;534;594	ENSP00000303212:E594K;ENSP00000405052:E534K	ENSP00000303212:E594K	E	-	1	0	SEMA3E	82852641	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.346000	0.79347	1.320000	0.45209	0.650000	0.86243	GAG	SEMA3E	-	pfam_Ig_V-set,pfscan_Ig-like		0.383	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3E	HGNC	protein_coding	OTTHUMT00000336606.1	C	NM_012431		83014705	-1	no_errors	ENST00000307792	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83014705	C	T	83014705	3	4	164	1	0	0	0	0	1	0	0	0	14058	922	32	1	555	1	SEMA3E	7	83014705	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	623952	83014705	76123958	308	31096										
ZNF804B	219578	genome.wustl.edu	37	chr7	88965996	88965996	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcagtcacctccctattgctCatctacatcctctttcacag	4	16	5	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:88965996C>T	ENST00000333190.4	+	4	4309	c.3700C>T	c.(3700-3702)Cat>Tat	p.H1234Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1234							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCTATTGCTCATCTACATCC	0.468										HNSCC(36;0.09)																																							0													211	181	192					7																	88965996		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3700C>T	7.37:g.88965996C>T	ENSP00000329638:p.His1234Tyr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.H1234Y	ENST00000333190.4	37	c.3700	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539626	0.45176	.	.	ENSG00000182348	ENST00000333190	T	0.07327	3.2	4.84	4.84	0.62591	.	0.086926	0.49916	D	0.000125	T	0.26846	0.0657	M	0.65975	2.015	0.42070	D	0.991202	D	0.89917	1.0	D	0.63488	0.915	T	0.00849	-1.1541	10	0.62326	D	0.03	-16.9241	18.5005	0.90879	0.0:1.0:0.0:0.0	.	1234	A4D1E1	Z804B_HUMAN	Y	1234	ENSP00000329638:H1234Y	ENSP00000329638:H1234Y	H	+	1	0	ZNF804B	88803932	1.000000	0.71417	0.996000	0.52242	0.017000	0.09413	4.841000	0.62824	2.649000	0.89929	0.655000	0.94253	CAT	ZNF804B	-	NULL		0.468	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88965996	1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88965996	C	T	88965996	3	4	164	1	0	0	0	0	1	0	0	0	18201	826	29	1	3714	1	ZNF804B	7	88965996	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5951291	88965996	70172667	309	31097										
ZNF804B	219578	genome.wustl.edu	37	chr7	88966146	88966146	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acccatctcacataacacttCagcctctgccccctacagca	3	19	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:88966146C>T	ENST00000333190.4	+	4	4459	c.3850C>T	c.(3850-3852)Cag>Tag	p.Q1284*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1284							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATAACACTTCAGCCTCTGCC	0.468										HNSCC(36;0.09)																																							0													225	198	207					7																	88966146		2203	4300	6503	SO:0001587	stop_gained	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3850C>T	7.37:g.88966146C>T	ENSP00000329638:p.Gln1284*		B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.Q1284*	ENST00000333190.4	37	c.3850	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	45	12.051032	0.99631	.	.	ENSG00000182348	ENST00000333190	.	.	.	5.29	5.29	0.74685	.	0.242001	0.30269	N	0.010016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-6.5563	19.1228	0.93371	0.0:1.0:0.0:0.0	.	.	.	.	X	1284	.	ENSP00000329638:Q1284X	Q	+	1	0	ZNF804B	88804082	1.000000	0.71417	0.972000	0.41901	0.941000	0.58515	5.269000	0.65542	2.739000	0.93911	0.655000	0.94253	CAG	ZNF804B	-	NULL		0.468	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88966146	1	no_errors	ENST00000333190	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	88966146	C	T	88966146	4	4	164	1	0	0	0	0	0	1	0	0	18201	827	29	1	3864	1	ZNF804B	7	88966146	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	150	88966146	70172517	310	31098										
LMTK2	22853	genome.wustl.edu	37	chr7	97820151	97820151	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agagagagagacacaaaactCccgaagccccagctggagca	11	12	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:97820151C>T	ENST00000297293.5	+	10	1403	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACACAAAACTCCCGAAGCCCC	0.493																																																	0													168	184	178					7																	97820151		2203	4300	6503	SO:0001819	synonymous_variant	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1110C>T	7.37:g.97820151C>T			A4D272|Q75MG7|Q9UPS3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L370	ENST00000297293.5	37	c.1110	CCDS5654.1	7																																																																																			LMTK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.493	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	C	NM_014916		97820151	1	no_errors	ENST00000297293	ensembl	human	known	70_37	silent	SNP	0.998	T	T	97820151	C	T	97820151	2	4	164	1	0	0	0	0	0	0	0	1	8880	842	30	1		1	LMTK2	7	97820151	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8854005	97820151	61318512	311	31099										
TMEM130	222865	genome.wustl.edu	37	chr7	98460788	98460788	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagtcagcggcagtgacccaGacagagaccgggaattcccc	12	14	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:98460788G>A	ENST00000416379.2	-	2	325	c.321C>T	c.(319-321)gtC>gtT	p.V107V	TMEM130_ENST00000339375.4_Silent_p.V107V|TMEM130_ENST00000450876.1_Silent_p.V23V|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000546258.1_Silent_p.V88V			Q8N3G9	TM130_HUMAN	transmembrane protein 130	107						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V107V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGACCCAGACAGAGACCG	0.627																																																	1	Substitution - coding silent(1)	large_intestine(1)											61	61	61					7																	98460788		2203	4300	6503	SO:0001819	synonymous_variant	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.321C>T	7.37:g.98460788G>A			A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	superfamily_PKD_dom,pfscan_PKD_dom	p.V107	ENST00000416379.2	37	c.321	CCDS47650.1	7																																																																																			TMEM130	-	NULL		0.627	TMEM130-008	KNOWN	basic|CCDS	protein_coding	TMEM130	HGNC	protein_coding	OTTHUMT00000380713.1	G	NM_152913		98460788	-1	no_errors	ENST00000416379	ensembl	human	known	70_37	silent	SNP	1.000	A	A	98460788	G	A	98460788	2	1	164	1	0	0	0	0	0	0	0	1	16073	929	33	1		1	TMEM130	7	98460788	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	640637	98460788	60677875	312	31100										
TMEM168	64418	genome.wustl.edu	37	chr7	112407779	112407779	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccaccattctataagtgtgtCaaggcgtagtgtatctccac	8	11	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:112407779C>T	ENST00000312814.6	-	5	2127	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	TMEM168_ENST00000454074.1_Missense_Mutation_p.D523N	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	523						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATAAGTGTGTCAAGGCGTAGT	0.388																																																	0													50	49	49					7																	112407779		2200	4281	6481	SO:0001583	missense	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1567G>A	7.37:g.112407779C>T	ENSP00000323068:p.Asp523Asn		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.D523N	ENST00000312814.6	37	c.1567	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921762	0.73213	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.8	5.8	0.92144	.	0.188509	0.53938	D	0.000042	T	0.60932	0.2307	L	0.48642	1.525	0.58432	D	0.999999	B	0.30281	0.275	B	0.30855	0.121	T	0.61113	-0.7128	9	0.72032	D	0.01	-21.6671	20.0589	0.97667	0.0:1.0:0.0:0.0	.	523	Q9H0V1	TM168_HUMAN	N	523;523;139;84	.	ENSP00000323068:D523N	D	-	1	0	TMEM168	112195015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.668000	0.61568	2.732000	0.93576	0.650000	0.86243	GAC	TMEM168	-	NULL		0.388	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	C	NM_022484		112407779	-1	no_errors	ENST00000312814	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112407779	C	T	112407779	3	4	164	1	0	0	0	0	1	0	0	0	16113	826	29	1	530	1	TMEM168	7	112407779	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	13946991	112407779	46730884	313	31101										
RNF148	378925	genome.wustl.edu	37	chr7	122342331	122342331	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgcaaaatttccatgcctttCaggttgcttatcatcaccgc	6	12	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:122342331C>G	ENST00000434824.1	-	1	690	c.474G>C	c.(472-474)ctG>ctC	p.L158L	CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Silent_p.L60L|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	158	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CCATGCCTTTCAGGTTGCTTA	0.453																																																	0													269	267	268					7																	122342331		2041	4182	6223	SO:0001819	synonymous_variant	378925			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.474G>C	7.37:g.122342331C>G			A4D0X4|Q8N308	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L158	ENST00000434824.1	37	c.474	CCDS47692.1	7																																																																																			RNF148	-	pfam_Protease-assoc_domain		0.453	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF148	HGNC	protein_coding	OTTHUMT00000347424.1	C	NM_198085		122342331	-1	no_errors	ENST00000434824	ensembl	human	known	70_37	silent	SNP	0.996	G	G	122342331	C	G	122342331	2	3	164	1	0	0	0	0	0	0	0	1	13479	813	29	1		1	RNF148	7	122342331	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	9934552	122342331	36796332	314	31102										
WASL	8976	genome.wustl.edu	37	chr7	123332690	123332690	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtggaggccctgaaggtgctGaggagggaagggctggaggt	22	5	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:123332690G>C	ENST00000223023.4	-	9	1390	c.1058C>G	c.(1057-1059)tCa>tGa	p.S353*		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	353	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGGTGCTGAGGAGGGAAG	0.662																																																	0													92	95	94					7																	123332690		2203	4300	6503	SO:0001587	stop_gained	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1058C>G	7.37:g.123332690G>C	ENSP00000223023:p.Ser353*		A1JUI9|Q7Z746	Nonsense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.S353*	ENST00000223023.4	37	c.1058	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.542858	0.98348	.	.	ENSG00000106299	ENST00000223023	.	.	.	5.43	5.43	0.79202	.	0.378779	0.26967	N	0.021598	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.947	19.2285	0.93827	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000223023:S353X	S	-	2	0	WASL	123119926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.730000	0.62015	2.532000	0.85374	0.650000	0.86243	TCA	WASL	-	NULL		0.662	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	G	NM_003941		123332690	-1	no_errors	ENST00000223023	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	123332690	G	C	123332690	4	2	164	1	0	0	0	0	0	1	0	0	17287	1294	45	1	471	1	WASL	7	123332690	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	990359	123332690	35805973	315	31103										
HYAL4	23553	genome.wustl.edu	37	chr7	123514826	123514826	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcaatctagcaagatctagtCagcaccataggagaaagtgc	9	9	4	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:123514826C>T	ENST00000223026.4	+	4	1604	c.966C>T	c.(964-966)gtC>gtT	p.V322V	HYAL4_ENST00000476325.1_Silent_p.V322V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	322					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAGATCTAGTCAGCACCATAG	0.453																																																	0													95	88	91					7																	123514826		2203	4300	6503	SO:0001819	synonymous_variant	23553			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.966C>T	7.37:g.123514826C>T			D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20	p.V322	ENST00000223026.4	37	c.966	CCDS5789.1	7																																																																																			HYAL4	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase		0.453	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	HGNC	protein_coding	OTTHUMT00000348545.1	C	NM_012269		123514826	1	no_errors	ENST00000223026	ensembl	human	known	70_37	silent	SNP	1.000	T	T	123514826	C	T	123514826	2	4	164	1	0	0	0	0	0	0	0	1	7486	813	29	1		1	HYAL4	7	123514826	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	182136	123514826	35623837	316	31104										
ZNF746	155061	genome.wustl.edu	37	chr7	149172453	149172453	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcctgggcaggactagggaaGaaccgtgtggcttggcctgg	17	9	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:149172453G>A	ENST00000340622.3	-	7	1237	c.957C>T	c.(955-957)ttC>ttT	p.F319F	ZNF746_ENST00000458143.2_Silent_p.F320F			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	319					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GACTAGGGAAGAACCGTGTGG	0.637																																																	0													49	52	51					7																	149172453		2203	4300	6503	SO:0001819	synonymous_variant	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.957C>T	7.37:g.149172453G>A			A8K6Z9|Q6ZRF9	Silent	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F320	ENST00000340622.3	37	c.960	CCDS5897.1	7																																																																																			ZNF746	-	NULL		0.637	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	G	NM_152557		149172453	-1	no_errors	ENST00000458143	ensembl	human	known	70_37	silent	SNP	0.018	A	A	149172453	G	A	149172453	2	1	164	1	0	0	0	0	0	0	0	1	18159	933	33	1		1	ZNF746	7	149172453	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	25657627	149172453	9966210	317	31105										
NOS3	4846	genome.wustl.edu	37	chr7	150690919	150690919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acttgaagagcgtggcccagGagcctgggccaccctgcggc	15	14	0	2	rs547845670		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:150690919G>A	ENST00000484524.1	+	1	28	c.28G>A	c.(28-30)Gag>Aag	p.E10K	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000467517.1_Missense_Mutation_p.E10K|NOS3_ENST00000297494.3_Missense_Mutation_p.E10K	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGGCCCAGGAGCCTGGGCC	0.706													G|||	1	0.000199681	0	0	5008	,	,		13835	0.001		0	False		,,,				2504	0																0													13	18	16					7																	150690919		2177	4251	6428	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.28G>A	7.37:g.150690919G>A	ENSP00000420215:p.Glu10Lys		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E10K	ENST00000484524.1	37	c.28	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	g	16.75	3.210333	0.58343	.	.	ENSG00000164867	ENST00000297494;ENST00000484576;ENST00000484524;ENST00000467517	T;T;T	0.15256	4.64;2.86;2.44	5.17	5.17	0.71159	.	0.150994	0.30686	N	0.009099	T	0.09024	0.0223	N	0.08118	0	0.40149	D	0.976921	P;B;B;B	0.47762	0.9;0.155;0.155;0.155	B;B;B;B	0.36464	0.225;0.034;0.034;0.023	T	0.15636	-1.0430	10	0.66056	D	0.02	-6.4922	14.2007	0.65703	0.0:0.0:1.0:0.0	.	10;10;10;10	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	K	10	ENSP00000297494:E10K;ENSP00000420215:E10K;ENSP00000420551:E10K	ENSP00000297494:E10K	E	+	1	0	NOS3	150321852	1.000000	0.71417	0.999000	0.59377	0.363000	0.29612	5.347000	0.65998	2.422000	0.82143	0.579000	0.79373	GAG	NOS3	-	pirsf_NOS_met		0.706	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	G	NM_000603		150690919	1	no_errors	ENST00000297494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150690919	G	A	150690919	3	1	164	1	0	0	0	0	1	0	0	0	10568	1175	41	1	30	1	NOS3	7	150690919	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1518466	150690919	8447744	318	31106										
ABCB8	11194	genome.wustl.edu	37	chr7	150739122	150739122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gaagcttccgatgaagaggtGtacacagccgcccgggaagc	14	11	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:150739122G>A	ENST00000297504.6	+	15	1809	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	ABCB8_ENST00000542328.1_Silent_p.V476V|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Silent_p.V564V|ABCB8_ENST00000358849.4_Silent_p.V564V			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	581	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	ATGAAGAGGTGTACACAGCCG	0.597																																																	0													65	66	66					7																	150739122		2203	4300	6503	SO:0001819	synonymous_variant	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1743G>A	7.37:g.150739122G>A			A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V581	ENST00000297504.6	37	c.1743		7																																																																																			ABCB8	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.597	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	G	NM_007188		150739122	1	no_errors	ENST00000297504	ensembl	human	known	70_37	silent	SNP	0.019	A	A	150739122	G	A	150739122	2	1	164	1	0	0	0	0	0	0	0	1	47	1364	48	4		4	ABCB8	7	150739122	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	48203	150739122	8399541	319	31107										
MLL3	58508	genome.wustl.edu	37	chr7	151878287	151878287	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccttggtgttgctggtggctGagagtaagggacagaaattc	15	6	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:151878287G>A	ENST00000262189.6	-	36	6876	c.6658C>T	c.(6658-6660)Cag>Tag	p.Q2220*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2220*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2220	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTGGTGGCTGAGAGTAAGGG	0.468																																																	0													84	80	81					7																	151878287		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6658C>T	7.37:g.151878287G>A	ENSP00000262189:p.Gln2220*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2220*	ENST00000262189.6	37	c.6658	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.064666	0.99821	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.37	5.37	0.77165	.	0.154508	0.29980	N	0.010707	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.4763	0.94991	0.0:0.0:1.0:0.0	.	.	.	.	X	2220	.	ENSP00000262189:Q2220X	Q	-	1	0	MLL3	151509220	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	7.531000	0.81973	2.677000	0.91161	0.655000	0.94253	CAG	MLL3	-	NULL		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151878287	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151878287	G	A	151878287	4	1	164	1	0	0	0	0	0	1	0	0	9645	1299	45	1	8173	1	MLL3	7	151878287	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1139165	151878287	7260376	320	31108										
MLL3	58508	genome.wustl.edu	37	chr7	151878464	151878464	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccggggagttccaggaggttGagagtaagggtctgtattgg	18	5	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:151878464G>A	ENST00000262189.6	-	36	6699	c.6481C>T	c.(6481-6483)Caa>Taa	p.Q2161*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2161*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2161	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAGGAGGTTGAGAGTAAGGG	0.498																																																	0													124	130	128					7																	151878464		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6481C>T	7.37:g.151878464G>A	ENSP00000262189:p.Gln2161*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2161*	ENST00000262189.6	37	c.6481	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.768445	0.99809	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.51	5.51	0.81932	.	0.000000	0.45126	D	0.000399	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.203	0.89844	0.0:0.0:1.0:0.0	.	.	.	.	X	2161	.	ENSP00000262189:Q2161X	Q	-	1	0	MLL3	151509397	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	5.360000	0.66086	2.600000	0.87896	0.655000	0.94253	CAA	MLL3	-	NULL		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151878464	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151878464	G	A	151878464	4	1	164	1	0	0	0	0	0	1	0	0	9645	1299	45	1	8350	1	MLL3	7	151878464	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	177	151878464	7260199	321	31109										
MLL3	58508	genome.wustl.edu	37	chr7	151947007	151947007	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agactttctgagggatgactCttctgttgctcttcagtgtg	11	8	5	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:151947007C>G	ENST00000262189.6	-	13	1985	c.1767G>C	c.(1765-1767)aaG>aaC	p.K589N	KMT2C_ENST00000355193.2_Missense_Mutation_p.K589N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	589					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGGATGACTCTTCTGTTGCT	0.363																																																	0													156	125	136					7																	151947007		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1767G>C	7.37:g.151947007C>G	ENSP00000262189:p.Lys589Asn		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K589N	ENST00000262189.6	37	c.1767	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402209	0.25291	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83591	-1.74;-1.74	5.45	-0.367	0.12541	.	0.767112	0.11277	N	0.580739	T	0.64811	0.2632	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45234	-0.9275	10	0.16420	T	0.52	.	3.0599	0.06196	0.4131:0.2481:0.0:0.3388	.	589	Q8NEZ4	MLL3_HUMAN	N	589	ENSP00000262189:K589N;ENSP00000347325:K589N	ENSP00000262189:K589N	K	-	3	2	MLL3	151577940	0.000000	0.05858	0.001000	0.08648	0.284000	0.27059	0.066000	0.14489	0.017000	0.15025	0.650000	0.86243	AAG	MLL3	-	NULL		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151947007	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.000	G	G	151947007	C	G	151947007	3	3	164	1	0	0	0	0	1	0	0	0	9645	912	32	1	13156	1	MLL3	7	151947007	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	68543	151947007	7191656	322	31110										
DPP6	1804	genome.wustl.edu	37	chr7	154237635	154237635	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agatacagaattcatctacaGagaacagaaaggaacagtga	9	6	2	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:154237635G>A	ENST00000377770.3	+	4	617	c.476G>A	c.(475-477)aGa>aAa	p.R159K	DPP6_ENST00000406326.1_Missense_Mutation_p.R159K|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Missense_Mutation_p.R97K|DPP6_ENST00000404039.1_Missense_Mutation_p.R95K|DPP6_ENST00000332007.3_Missense_Mutation_p.R97K			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	159					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTCATCTACAGAGAACAGAAA	0.348																																					NSCLC(125;1384 1783 2490 7422 34254)												0													66	62	63					7																	154237635		1836	4083	5919	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.476G>A	7.37:g.154237635G>A	ENSP00000367001:p.Arg159Lys			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.R159K	ENST00000377770.3	37	c.476		7	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554861	0.45487	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.2	5.2	0.72013	.	0.049690	0.85682	D	0.000000	T	0.40522	0.1120	.	.	.	0.47441	D	0.999426	P;D;D;D;D	0.57899	0.685;0.981;0.968;0.961;0.968	P;P;P;P;P	0.56434	0.531;0.754;0.573;0.798;0.573	T	0.05194	-1.0900	9	0.13108	T	0.6	-23.146	16.2831	0.82707	0.0:0.0:1.0:0.0	.	97;97;159;159;95	E9PDL2;P42658-2;P42658;Q8IYG9;E9PF59	.;.;DPP6_HUMAN;.;.	K	95;159;159;97;97	ENSP00000385578:R95K;ENSP00000384393:R159K;ENSP00000367001:R159K;ENSP00000328226:R97K;ENSP00000397303:R97K	ENSP00000328226:R97K	R	+	2	0	DPP6	153868568	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.354000	0.66040	2.584000	0.87258	0.563000	0.77884	AGA	DPP6	-	NULL		0.348	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	G	NM_130797		154237635	1	no_errors	ENST00000377770	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154237635	G	A	154237635	3	1	164	1	0	0	0	0	1	0	0	0	4740	942	33	1	606	1	DPP6	7	154237635	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2290628	154237635	4901028	323	31111										
ESYT2	57488	genome.wustl.edu	37	chr7	158560457	158560457	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tatccaaaatgatagtatctGataaaccactgttagttggg	8	6	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:158560457G>A	ENST00000251527.5	-	8	1021	c.956C>T	c.(955-957)tCa>tTa	p.S319L		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	347	Glycerophospholipid-binding barrel-like domain.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GATAGTATCTGATAAACCACT	0.393																																																	0													74	70	71					7																	158560457		2203	4300	6503	SO:0001583	missense	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.956C>T	7.37:g.158560457G>A	ENSP00000251527:p.Ser319Leu		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S319L	ENST00000251527.5	37	c.956	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601773	0.87055	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.17370	2.28;2.28	4.75	4.75	0.60458	.	0.182652	0.49305	D	0.000150	T	0.21962	0.0529	N	0.25890	0.77	0.80722	D	1	D;D	0.58268	0.982;0.965	P;P	0.54629	0.757;0.625	T	0.02698	-1.1122	10	0.20519	T	0.43	-30.2454	17.1263	0.86715	0.0:0.0:1.0:0.0	.	347;319	A0FGR8-6;A0FGR8-2	.;.	L	319;347;289;143	ENSP00000251527:S319L;ENSP00000275418:S289L	ENSP00000251527:S319L	S	-	2	0	ESYT2	158253218	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.141000	0.64814	2.343000	0.79666	0.655000	0.94253	TCA	ESYT2	-	NULL		0.393	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	G	NM_020728		158560457	-1	no_errors	ENST00000251527	ensembl	human	known	70_37	missense	SNP	1.000	A	A	158560457	G	A	158560457	3	1	164	1	0	0	0	0	1	0	0	0	5277	1294	45	1	1785	1	ESYT2	7	158560457	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4322822	158560457	578206	324	31112										
FBXO25	26260	genome.wustl.edu	37	chr8	363141	363141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttggattaagacagaagatgGctggaagagatgtgaatctt	13	3	1	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:363141G>T	ENST00000276326.5	+	2	181	c.62G>T	c.(61-63)gGc>gTc	p.G21V	FBXO25_ENST00000352684.2_5'UTR|FBXO25_ENST00000350302.3_Missense_Mutation_p.G21V|FBXO25_ENST00000382824.1_5'UTR	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	21	Interaction with beta-actin.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		ACAGAAGATGGCTGGAAGAGA	0.393																																																	0													135	144	141					8																	363141		2203	4300	6503	SO:0001583	missense	26260			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"F-boxes /  "other""	13596	protein-coding gene	gene with protein product		609098	"F-box only protein 25"			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.62G>T	8.37:g.363141G>T	ENSP00000276326:p.Gly21Val		Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.G21V	ENST00000276326.5	37	c.62	CCDS5953.1	8	.	.	.	.	.	.	.	.	.	.	.	17.22	3.334056	0.60853	.	.	ENSG00000147364	ENST00000518240;ENST00000350302;ENST00000276326;ENST00000447233	T;T;T	0.24908	1.83;1.83;1.83	3.6	3.6	0.41247	.	0.055902	0.64402	D	0.000001	T	0.53190	0.1781	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61292	-0.7092	10	0.87932	D	0	-25.4566	11.0969	0.48150	0.0:0.0:1.0:0.0	.	21;21	Q8TCJ0-2;Q8TCJ0	.;FBX25_HUMAN	V	21	ENSP00000428872:G21V;ENSP00000342077:G21V;ENSP00000276326:G21V	ENSP00000276326:G21V	G	+	2	0	FBXO25	353141	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.898000	0.75676	1.745000	0.51790	0.298000	0.19748	GGC	FBXO25	-	NULL		0.393	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2	G	NM_012173		363141	1	no_errors	ENST00000276326	ensembl	human	known	70_37	missense	SNP	1.000	T	T	363141	G	T	363141	3	4	164	1	0	0	0	0	1	0	0	0	5754	1203	42	4	64	4	FBXO25	8	363141	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		363141	146000881	325	31113										
CSMD1	64478	genome.wustl.edu	37	chr8	3351249	3351249	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcaaaggcaagcttgatgacCtaaatacaaggtacgaaaca	8	8	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:3351249C>T	ENST00000520002.1	-	12	1903		c.e12-1		CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTGATGACCTAAATACAAG	0.433																																																	0													64	67	66					8																	3351249		2171	4293	6464	SO:0001630	splice_region_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1348-1G>A	8.37:g.3351249C>T			Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	-	e12-1	ENST00000520002.1	37	c.1348-1		8	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760086	0.69763	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1305	0.89599	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	3338657	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	7.285000	0.78660	2.552000	0.86080	0.557000	0.71058	.	CSMD1	-	-		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225	Intron	3351249	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	3351249	C	T	3351249	5	4	164	1	0	0	0	0	0	0	1	0	3949	695	24	4	9403	4	CSMD1	8	3351249	Splice_Site	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2988108	3351249	143012773	326	31114										
DEFB130	245940	genome.wustl.edu	37	chr8	11929234	11929234	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcacaaagaggaggagaacaGaaataagggaatggagtttc	13	4	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:11929234G>A	ENST00000437818.1	-	1	22	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_001195257.1	NP_001182186.1	Q30KQ2	DB130_HUMAN	defensin, beta 130	8					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)								STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GAGGAGAACAGAAATAAGGGA	0.453																																																	0													1	1	1					8																	11929234		52	220	272	SO:0001583	missense	100133267			DQ012022	CCDS43714.1	8p23.1	2011-03-30			ENSG00000232948	ENSG00000232948		"Defensins, beta"	18107	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037804		Approved	DEFB-30	uc003wuz.1	Q30KQ2	OTTHUMG00000158742	ENST00000437818.1:c.23C>T	8.37:g.11929234G>A	ENSP00000392568:p.Ser8Phe			Missense_Mutation	SNP	pfam_Defensin_beta-typ	p.S8F	ENST00000437818.1	37	c.23	CCDS56524.1	8	.	.	.	.	.	.	.	.	.	.	g	11.41	1.629789	0.28978	.	.	ENSG00000233050	ENST00000437818	.	.	.	1.52	0.557	0.17260	.	.	.	.	.	T	0.14787	0.0357	.	.	.	0.09310	N	0.999994	P	0.44734	0.842	B	0.29176	0.099	T	0.13176	-1.0519	7	0.42905	T	0.14	-0.5435	5.5791	0.17241	0.0:0.3507:0.6493:0.0	.	8	Q30KQ2	DB130_HUMAN	F	8	.	ENSP00000392568:S8F	S	-	2	0	RP11-1236K1.1	11966643	0.673000	0.27539	0.419000	0.26584	0.923000	0.55619	2.696000	0.47052	0.189000	0.20188	0.298000	0.19748	TCT	DEFB130	-	NULL		0.453	DEFB130-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	LOC100133267	Uniprot_genename	protein_coding	OTTHUMT00000351890.1	G	NM_001037804		11929234	-1	no_errors	ENST00000437818	ensembl	human	putative	70_37	missense	SNP	0.559	A	A	11929234	G	A	11929234	3	1	164	1	0	0	0	0	1	0	0	0	4425	942	33	1	224	1	DEFB130	8	11929234	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8577985	11929234	134434788	327	31115										
CSGALNACT1	55790	genome.wustl.edu	37	chr8	19316060	19316060	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcatgatggggccgaatggtCgaaataagatgagccgtttg	14	6	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:19316060C>G	ENST00000454498.2	-	5	1741	c.728G>C	c.(727-729)cGa>cCa	p.R243P	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R243P|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R243P|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R243P|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R243P	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	243					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GCCGAATGGTCGAAATAAGAT	0.443																																																	0													313	287	296					8																	19316060		2203	4300	6503	SO:0001583	missense	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.728G>C	8.37:g.19316060C>G	ENSP00000411816:p.Arg243Pro		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.R243P	ENST00000454498.2	37	c.728	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761689	0.89932	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.61	5.61	0.85477	.	0.055184	0.64402	D	0.000001	T	0.60907	0.2305	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67264	-0.5714	10	0.66056	D	0.02	-12.9217	18.5627	0.91107	0.0:1.0:0.0:0.0	.	243	Q8TDX6	CGAT1_HUMAN	P	243	ENSP00000411816:R243P;ENSP00000330805:R243P;ENSP00000310891:R243P;ENSP00000429809:R243P;ENSP00000442155:R243P	ENSP00000310891:R243P	R	-	2	0	CSGALNACT1	19360340	1.000000	0.71417	0.981000	0.43875	0.884000	0.51177	7.414000	0.80117	2.813000	0.96785	0.655000	0.94253	CGA	CSGALNACT1	-	pfam_Chond_GalNAc		0.443	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	C	NM_018371		19316060	-1	no_errors	ENST00000311540	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19316060	C	G	19316060	3	3	164	1	0	0	0	0	1	0	0	0	3943	884	31	1	894	1	CSGALNACT1	8	19316060	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	7386826	19316060	127047962	328	31116										
TNFRSF10A	8797	genome.wustl.edu	37	chr8	23082497	23082497	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtggccgcggctgcctctgtCccactcgctgcgctcccggg	14	18	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:23082497C>T	ENST00000221132.3	-	1	142	c.78G>A	c.(76-78)ggG>ggA	p.G26G	RP11-1149O23.3_ENST00000517774.1_RNA|RP11-1149O23.3_ENST00000500853.1_RNA|RP11-1149O23.4_ENST00000511929.2_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	26					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTGCCTCTGTCCCACTCGCTG	0.652																																																	0													13	14	14					8																	23082497		2203	4295	6498	SO:0001819	synonymous_variant	8797			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.78G>A	8.37:g.23082497C>T			A8K5I4|Q53Y72|Q96E62	Silent	SNP	pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.G26	ENST00000221132.3	37	c.78	CCDS6039.1	8																																																																																			TNFRSF10A	-	pirsf_TNFR_10		0.652	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10A	HGNC	protein_coding	OTTHUMT00000215133.2	C	NM_003844		23082497	-1	no_errors	ENST00000221132	ensembl	human	known	70_37	silent	SNP	0.000	T	T	23082497	C	T	23082497	2	4	164	1	0	0	0	0	0	0	0	1	16310	842	30	1		1	TNFRSF10A	8	23082497	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3766437	23082497	123281525	329	31117										
C8orf80	389643	genome.wustl.edu	37	chr8	27888822	27888822	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccacttcttatcccaatttCtgtcattttctcctgcaggg	6	13	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:27888822C>G	ENST00000413272.2	-	15	1988	c.1846G>C	c.(1846-1848)Gaa>Caa	p.E616Q	NUGGC_ENST00000341513.6_Missense_Mutation_p.E616Q	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	616					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										ATCCCAATTTCTGTCATTTTC	0.448																																																	0													133	135	134					8																	27888822		1861	4107	5968	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1846G>C	8.37:g.27888822C>G	ENSP00000408697:p.Glu616Gln		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.E616Q	ENST00000413272.2	37	c.1846	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648561	0.47258	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.35789	1.29;1.29	5.23	4.35	0.52113	.	0.336949	0.32147	N	0.006517	T	0.21347	0.0514	L	0.29908	0.895	0.28032	N	0.934107	P	0.42827	0.791	B	0.35240	0.198	T	0.10965	-1.0607	10	0.29301	T	0.29	-22.6263	8.7616	0.34678	0.0:0.8997:0.0:0.1003	.	616	Q68CJ6	SLIP_HUMAN	Q	616	ENSP00000408697:E616Q;ENSP00000345031:E616Q	ENSP00000345031:E616Q	E	-	1	0	C8orf80	27944741	0.322000	0.24634	0.905000	0.35620	0.730000	0.41778	1.512000	0.35812	2.441000	0.82636	0.655000	0.94253	GAA	NUGGC	-	NULL		0.448	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27888822	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	0.674	G	G	27888822	C	G	27888822	3	3	164	1	0	0	0	0	1	0	0	0	2444	922	32	1	564	1	C8orf80	8	27888822	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4806325	27888822	118475200	330	31118										
PROSC	11212	genome.wustl.edu	37	chr8	37620216	37620216	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgtcggccgagctgggagtCgggtgcgcattgcgggcggt	20	9	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:37620216C>T	ENST00000328195.3	+	1	106	c.39C>T	c.(37-39)gtC>gtT	p.V13V		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	13					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	AGCTGGGAGTCGGGTGCGCAT	0.751																																																	0													15	16	15					8																	37620216		2181	4263	6444	SO:0001819	synonymous_variant	11212			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"proline synthetase co-transcribed (bacterial homolog)"				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.39C>T	8.37:g.37620216C>T			Q6FI94	Silent	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.V13	ENST00000328195.3	37	c.39	CCDS6096.1	8																																																																																			PROSC	-	pirsf_UPF0001		0.751	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	C	NM_007198		37620216	1	no_errors	ENST00000328195	ensembl	human	known	70_37	silent	SNP	0.917	T	T	37620216	C	T	37620216	2	4	164	1	0	0	0	0	0	0	0	1	12586	871	31	1		1	PROSC	8	37620216	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	9731394	37620216	108743806	331	31119										
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37730596	37730596	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtcccaattcagaggggacaGatgcctggccagagctagaa	13	10	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:37730596G>C	ENST00000330843.4	-	4	1736	c.1724C>G	c.(1723-1725)tCt>tGt	p.S575C	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	575	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGAGGGGACAGATGCCTGGCC	0.557																																																	0													69	61	64					8																	37730596		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1724C>G	8.37:g.37730596G>C	ENSP00000331342:p.Ser575Cys		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S575C	ENST00000330843.4	37	c.1724	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683112	0.47991	.	.	ENSG00000156675	ENST00000330843	T	0.15372	2.43	6.07	1.25	0.21368	.	0.392356	0.21894	N	0.067548	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	0.999999	B	0.29805	0.257	B	0.30179	0.112	T	0.24476	-1.0159	10	0.87932	D	0	-2.8007	2.6791	0.05088	0.204:0.1254:0.5407:0.1299	.	575	Q6WKZ4	RFIP1_HUMAN	C	575	ENSP00000331342:S575C	ENSP00000331342:S575C	S	-	2	0	RAB11FIP1	37849754	0.627000	0.27129	0.000000	0.03702	0.606000	0.37113	1.765000	0.38481	-0.046000	0.13446	0.655000	0.94253	TCT	RAB11FIP1	-	NULL		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	G	NM_025151		37730596	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	missense	SNP	0.001	C	C	37730596	G	C	37730596	3	2	164	1	0	0	0	0	1	0	0	0	12923	942	33	1	2139	1	RAB11FIP1	8	37730596	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	110380	37730596	108633426	332	31120										
PRKDC	5591	genome.wustl.edu	37	chr8	48694968	48694968	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgggcacaacgctataggtCctcagctgcagggccctctg	12	13	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:48694968C>T	ENST00000314191.2	-	80	11420	c.11364G>A	c.(11362-11364)agG>agA	p.R3788R	PRKDC_ENST00000338368.3_Silent_p.R3788R|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3789	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CGCTATAGGTCCTCAGCTGCA	0.612								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													20	23	22					8																	48694968		2084	4205	6289	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11364G>A	8.37:g.48694968C>T			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R3788	ENST00000314191.2	37	c.11364		8																																																																																			PRKDC	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.612	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48694968	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	0.095	T	T	48694968	C	T	48694968	2	4	164	1	0	0	0	0	0	0	0	1	12548	854	30	1		1	PRKDC	8	48694968	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10964372	48694968	97669054	333	31121										
PRKDC	5591	genome.wustl.edu	37	chr8	48792189	48792189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	actgcctccagtgaggctggTgaagaatggaagaagagtga	15	6	0	6			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:48792189T>C	ENST00000314191.2	-	40	5151	c.5095A>G	c.(5095-5097)Acc>Gcc	p.T1699A	PRKDC_ENST00000338368.3_Missense_Mutation_p.T1699A|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1700					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTGAGGCTGGTGAAGAATGGA	0.468								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													30	32	31					8																	48792189		1987	4160	6147	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5095A>G	8.37:g.48792189T>C	ENSP00000313420:p.Thr1699Ala		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T1699A	ENST00000314191.2	37	c.5095		8	.	.	.	.	.	.	.	.	.	.	T	14.76	2.630724	0.46944	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.61274	0.12;0.12	5.87	4.7	0.59300	Armadillo-type fold (1);	0.056634	0.64402	D	0.000001	T	0.56615	0.1997	M	0.74881	2.28	0.53688	D	0.999973	P;P	0.41624	0.563;0.757	B;B	0.37601	0.254;0.254	T	0.60073	-0.7334	10	0.52906	T	0.07	.	12.4206	0.55518	0.126:0.0:0.0:0.874	.	1699;1700	E7EUY0;P78527	.;PRKDC_HUMAN	A	1699	ENSP00000313420:T1699A;ENSP00000345182:T1699A	ENSP00000313420:T1699A	T	-	1	0	PRKDC	48954742	1.000000	0.71417	0.984000	0.44739	0.554000	0.35429	4.773000	0.62331	1.021000	0.39600	0.477000	0.44152	ACC	PRKDC	-	superfamily_ARM-type_fold		0.468	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		T	NM_001081640		48792189	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48792189	T	C	48792189	3	2	164	1	0	0	0	0	1	0	0	0	12548	1696	59	5	7480	5	PRKDC	8	48792189	Missense_Mutation	SNP	T	TCGA-JX-A3Q0-01A-11D-A21Q-09	97221	48792189	97571833	334	31122										
ST18	9705	genome.wustl.edu	37	chr8	53092782	53092782	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggctgtagtgtcggggcttCattagcagggatttcctttt	14	7	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:53092782C>T	ENST00000276480.7	-	9	860	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	59					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTCGGGGCTTCATTAGCAGGG	0.512																																																	0													242	206	218					8																	53092782		2203	4300	6503	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.177G>A	8.37:g.53092782C>T	ENSP00000276480:p.Met59Ile		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.M59I	ENST00000276480.7	37	c.177	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.130073	0.94473	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.51071	0.83;0.72	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.69672	-0.5082	10	0.62326	D	0.03	-22.5124	19.4582	0.94904	0.0:1.0:0.0:0.0	.	59	O60284	ST18_HUMAN	I	59	ENSP00000276480:M59I;ENSP00000428521:M59I	ENSP00000276480:M59I	M	-	3	0	ST18	53255335	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.575000	0.67430	2.607000	0.88179	0.655000	0.94253	ATG	ST18	-	NULL		0.512	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	C			53092782	-1	no_errors	ENST00000276480	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53092782	C	T	53092782	3	4	164	1	0	0	0	0	1	0	0	0	15242	826	29	1	3038	1	ST18	8	53092782	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4300593	53092782	93271240	335	31123										
RB1CC1	9821	genome.wustl.edu	37	chr8	53570327	53570327	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	actatctggagataattcttCtaagggacaaactgcaggac	9	8	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:53570327C>T	ENST00000025008.5	-	15	2585	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E688K|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E688K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	688					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GATAATTCTTCTAAGGGACAA	0.403																																					GBM(180;1701 2102 13475 42023 52570)												0													99	101	100					8																	53570327		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2062G>A	8.37:g.53570327C>T	ENSP00000025008:p.Glu688Lys		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.E688K	ENST00000025008.5	37	c.2062	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669068	0.88348	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.27720	1.66;1.65;1.65	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.34675	-0.9819	10	0.46703	T	0.11	-20.7941	19.6708	0.95911	0.0:1.0:0.0:0.0	.	688;688	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	K	688	ENSP00000025008:E688K;ENSP00000396067:E688K;ENSP00000445960:E688K	ENSP00000025008:E688K	E	-	1	0	RB1CC1	53732880	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.442000	0.80503	2.709000	0.92574	0.655000	0.94253	GAA	RB1CC1	-	NULL		0.403	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	C	NM_014781		53570327	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53570327	C	T	53570327	3	4	164	1	0	0	0	0	1	0	0	0	13129	922	32	1	2762	1	RB1CC1	8	53570327	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	477545	53570327	92793695	336	31124										
RP1	6101	genome.wustl.edu	37	chr8	55542413	55542413	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccattggtgatatatttgatCagttttatttcagtaacaca	6	6	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:55542413C>T	ENST00000220676.1	+	4	6119	c.5971C>T	c.(5971-5973)Cag>Tag	p.Q1991*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1991					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATATTTGATCAGTTTTATTT	0.294																																					Colon(91;1014 1389 7634 14542 40420)												0													52	57	56					8																	55542413		2194	4297	6491	SO:0001587	stop_gained	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5971C>T	8.37:g.55542413C>T	ENSP00000220676:p.Gln1991*			Nonsense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1991*	ENST00000220676.1	37	c.5971	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	39	7.868085	0.98534	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.81	-3.0	0.05480	.	1.124050	0.07067	N	0.834783	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	1.5176	0.02509	0.3846:0.2921:0.2025:0.1208	.	.	.	.	X	1991	.	ENSP00000220676:Q1991X	Q	+	1	0	RP1	55704966	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.055000	0.11807	-0.292000	0.08999	-0.967000	0.02615	CAG	RP1	-	NULL		0.294	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	C	NM_006269		55542413	1	no_errors	ENST00000220676	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	55542413	C	T	55542413	4	4	164	1	0	0	0	0	0	1	0	0	13562	827	29	1	5981	1	RP1	8	55542413	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1972086	55542413	90821609	337	31125										
ARFGEF1	10565	genome.wustl.edu	37	chr8	68140257	68140257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccactgtaatcttattcttcCcatgttgtaatatgatattt	4	8	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:68140257C>T	ENST00000262215.3	-	25	3921	c.3532G>A	c.(3532-3534)Gga>Aga	p.G1178R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.G632R|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.G16R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1178					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTTATTCTTCCCATGTTGTAA	0.333																																																	0													104	101	102					8																	68140257		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3532G>A	8.37:g.68140257C>T	ENSP00000262215:p.Gly1178Arg		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.G1178R	ENST00000262215.3	37	c.3532	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038185	0.54896	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.06	4.17	0.49024	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	L	0.46157	1.445	0.58432	D	0.999991	D;P;P	0.52996	0.957;0.955;0.955	P;P;P	0.55345	0.771;0.774;0.774	T	0.59231	-0.7493	10	0.66056	D	0.02	.	14.8025	0.69926	0.1454:0.8546:0.0:0.0	.	1178;656;632	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	R	632;1178;16;27	ENSP00000428429:G632R;ENSP00000262215:G1178R;ENSP00000430891:G16R;ENSP00000429138:G27R	ENSP00000262215:G1178R	G	-	1	0	ARFGEF1	68302811	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.070000	0.71220	1.093000	0.41377	-0.188000	0.12872	GGA	ARFGEF1	-	superfamily_ARM-type_fold		0.333	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	C	NM_006421		68140257	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68140257	C	T	68140257	3	4	164	1	0	0	0	0	1	0	0	0	852	632	22	4	2077	4	ARFGEF1	8	68140257	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	12597844	68140257	78223765	338	31126										
MSC	9242	genome.wustl.edu	37	chr8	72756051	72756051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagaaggctttgctcagcacGcgcatccgggcacgctcacg	13	14	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:72756051G>A	ENST00000325509.4	-	1	652	c.363C>T	c.(361-363)cgC>cgT	p.R121R	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	121	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCTCAGCACGCGCATCCGGG	0.677											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28	29	28					8																	72756051		2203	4300	6503	SO:0001819	synonymous_variant	9242				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"Basic helix-loop-helix proteins"	7321	protein-coding gene	gene with protein product	"activated B-cell factor-1"	603628	"musculin (activated B-cell factor-1)"			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.363C>T	8.37:g.72756051G>A		1140	O75946|Q53XZ2|Q9BRE7	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R121	ENST00000325509.4	37	c.363	CCDS43746.1	8																																																																																			MSC	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.677	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSC	HGNC	protein_coding	OTTHUMT00000378974.1	G	NM_005098		72756051	-1	no_errors	ENST00000325509	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72756051	G	A	72756051	2	1	164	1	0	0	0	0	0	0	0	1	9891	1074	38	2		2	MSC	8	72756051	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4615794	72756051	73607971	339	31127										
TERF1	7013	genome.wustl.edu	37	chr8	73939209	73939210	+	Missense_Mutation	DNP	GA	GA	AT													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agtagaaagcaaaaggacaaGaacaataacttctcaagata							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:73939209_73939210GA>AT	ENST00000276603.5	+	6	832_833	c.809_810GA>AT	c.(808-810)aGA>aAT	p.R270N	TERF1_ENST00000276602.6_Missense_Mutation_p.R270N	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	270	Interaction with RLIM.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AAAAGGACAAGAACAATAACTT	0.337																																																	0																																										SO:0001583	missense	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	Exception_encountered	8.37:g.73939209_73939210delinsAT	ENSP00000276603:p.Arg270Asn		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.R270K|p.R270S	ENST00000276603.5	37	c.809|c.810	CCDS6211.1	8																																																																																			TERF1	-	pirsf_Telomere_repeat-bd-1/2		0.337	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1	G|A	NM_017489		73939209|73939210	1	no_errors	ENST00000276603	ensembl	human	known	70_37	missense	SNP	0.143|0.111	A|T	AT	73939210	GA	AT	73939209	3	1	164	1	0	0	0	0	1	0	0	0	15791	942	33	1	831	1	TERF1	8	73939209	Missense_Mutation	DNP	GA	TCGA-JX-A3Q0-01A-11D-A21Q-09	1183158	73939209	72424813	340	31128										
NBN	4683	genome.wustl.edu	37	chr8	90990479	90990479	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggaggctgcttcttggactCaactgctttcaggaattcag	11	9	4	0	rs1805794	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:90990479C>T	ENST00000265433.3	-	5	707	c.553G>A	c.(553-555)Gag>Aag	p.E185K	NBN_ENST00000409330.1_Missense_Mutation_p.E103K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	185	Mediates interaction with SP100. {ECO:0000250}.		E -> Q (in dbSNP:rs1805794). {ECO:0000269|PubMed:14684699, ECO:0000269|PubMed:14688016, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9590180, ECO:0000269|PubMed:9590181, ECO:0000269|Ref.7}.		blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCTTGGACTCAACTGCTTTC	0.299								Homologous recombination																																									0			GRCh37	CM034886	NBN	M	rs1805794						87	86	87					8																	90990479		2203	4300	6503	SO:0001583	missense	4683			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.553G>A	8.37:g.90990479C>T	ENSP00000265433:p.Glu185Lys		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.E185K	ENST00000265433.3	37	c.553	CCDS6249.1	8	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733709	0.89482	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000517772	T;T;T	0.71341	0.32;0.36;-0.56	5.96	3.08	0.35506	.	0.222293	0.47093	N	0.000243	T	0.57080	0.2029	N	0.22421	0.69	0.20638	N	0.999879	B	0.09022	0.002	B	0.04013	0.001	T	0.47058	-0.9146	10	0.51188	T	0.08	-2.2013	13.9393	0.64046	0.0:0.4497:0.4384:0.1119	.	185	O60934	NBN_HUMAN	K	185;103;185;103	ENSP00000265433:E185K;ENSP00000386924:E103K;ENSP00000428717:E103K	ENSP00000265433:E185K	E	-	1	0	NBN	91059655	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.133000	0.42093	0.091000	0.17302	-0.120000	0.15030	GAG	NBN	-	pirsf_Nibrin_met		0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3	C	NM_001024688		90990479	-1	no_errors	ENST00000265433	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90990479	C	T	90990479	3	4	164	1	0	0	0	0	1	0	0	0	10214	835	29	1	1759	1	NBN	8	90990479	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	17051270	90990479	55373543	341	31129										
MTDH	92140	genome.wustl.edu	37	chr8	98735262	98735262	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aatagtgtgcctccttcacaGagtaagtaatcctcattttt	6	9	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:98735262G>C	ENST00000336273.3	+	11	2005	c.1677G>C	c.(1675-1677)caG>caC	p.Q559H	MTDH_ENST00000519934.1_Splice_Site_p.Q503H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	559					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CTCCTTCACAGAGTAAGTAAT	0.403																																																	0													141	139	140					8																	98735262		2203	4300	6503	SO:0001630	splice_region_variant	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1678+1G>C	8.37:g.98735262G>C			Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	NULL	p.Q559H	ENST00000336273.3	37	c.1677	CCDS6274.1	8	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872610	0.72180	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.64085	-0.03;-0.08	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	L	0.44542	1.39	0.53688	D	0.999974	D	0.76494	0.999	D	0.85130	0.997	T	0.71185	-0.4667	10	0.40728	T	0.16	-9.4615	13.6819	0.62491	0.071:0.0:0.929:0.0	.	559	Q86UE4	LYRIC_HUMAN	H	559;503;182	ENSP00000338235:Q559H;ENSP00000428168:Q503H	ENSP00000338235:Q559H	Q	+	3	2	MTDH	98804438	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.196000	0.51020	1.576000	0.49790	0.655000	0.94253	CAG	MTDH	-	NULL		0.403	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTDH	HGNC	protein_coding	OTTHUMT00000379772.2	G		Missense_Mutation	98735262	1	no_errors	ENST00000336273	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98735262	G	C	98735262	5	2	164	1	0	0	0	0	0	0	1	0	9940	956	33	1	1719	1	MTDH	8	98735262	Splice_Site	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7744783	98735262	47628760	342	31130										
GRHL2	79977	genome.wustl.edu	37	chr8	102570802	102570802	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	catcagcttccccgagagctCtgccatcatcccggtgtcgg	10	16	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:102570802C>T	ENST00000251808.3	+	4	778	c.440C>T	c.(439-441)tCt>tTt	p.S147F	GRHL2_ENST00000395927.1_Missense_Mutation_p.S131F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	147					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CCCGAGAGCTCTGCCATCATC	0.527																																																	0													119	115	117					8																	102570802		2203	4300	6503	SO:0001583	missense	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.440C>T	8.37:g.102570802C>T	ENSP00000251808:p.Ser147Phe		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.S147F	ENST00000251808.3	37	c.440	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131912	0.37630	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12361	2.69;2.7	5.1	5.1	0.69264	.	0.491341	0.22165	N	0.063727	T	0.17662	0.0424	L	0.29908	0.895	0.41607	D	0.988883	B;P	0.35944	0.412;0.529	B;B	0.42738	0.188;0.396	T	0.04537	-1.0944	10	0.56958	D	0.05	-2.2035	18.5219	0.90956	0.0:1.0:0.0:0.0	.	147;147	B4DL28;Q6ISB3	.;GRHL2_HUMAN	F	147;131;147	ENSP00000251808:S147F;ENSP00000379260:S131F	ENSP00000251808:S147F	S	+	2	0	GRHL2	102639978	0.994000	0.37717	0.786000	0.31890	0.142000	0.21351	6.648000	0.74359	2.366000	0.80165	0.637000	0.83480	TCT	GRHL2	-	NULL		0.527	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	C	NM_024915		102570802	1	no_errors	ENST00000251808	ensembl	human	known	70_37	missense	SNP	0.803	T	T	102570802	C	T	102570802	3	4	164	1	0	0	0	0	1	0	0	0	6784	913	32	1	454	1	GRHL2	8	102570802	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3835540	102570802	43793220	343	31131										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110461662	110461662	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtggctcagaatgtgcaattGacaggcttagatctgattac	11	7	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:110461662G>A	ENST00000378402.5	+	40	6225	c.6121G>A	c.(6121-6123)Gac>Aac	p.D2041N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2041	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTGCAATTGACAGGCTTAG	0.373										HNSCC(38;0.096)																																							0													66	64	64					8																	110461662		1831	4078	5909	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6121G>A	8.37:g.110461662G>A	ENSP00000367655:p.Asp2041Asn		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.D2041N	ENST00000378402.5	37	c.6121	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	0.919	-0.716606	0.03206	.	.	ENSG00000205038	ENST00000378402	T	0.75821	-0.97	5.28	1.45	0.22620	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.140641	0.32314	N	0.006270	T	0.56187	0.1968	L	0.35288	1.05	0.09310	N	0.999999	B	0.06786	0.001	B	0.11329	0.006	T	0.32981	-0.9886	10	0.20046	T	0.44	.	5.5907	0.17299	0.2494:0.1459:0.6047:0.0	.	2041	Q86WI1	PKHL1_HUMAN	N	2041	ENSP00000367655:D2041N	ENSP00000367655:D2041N	D	+	1	0	PKHD1L1	110530838	0.719000	0.27986	0.024000	0.17045	0.125000	0.20455	0.943000	0.29030	0.229000	0.21039	-0.274000	0.10170	GAC	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110461662	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	0.133	A	A	110461662	G	A	110461662	3	1	164	1	0	0	0	0	1	0	0	0	11996	1290	45	1	6279	1	PKHD1L1	8	110461662	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7890860	110461662	35902360	344	31132										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110530692	110530692	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgggattcataattgaaataGagattggagaccctcctatt	9	6	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:110530692G>C	ENST00000378402.5	+	73	12090	c.11986G>C	c.(11986-11988)Gag>Cag	p.E3996Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3996					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTGAAATAGAGATTGGAGA	0.403										HNSCC(38;0.096)																																							0													55	53	53					8																	110530692		1858	4086	5944	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11986G>C	8.37:g.110530692G>C	ENSP00000367655:p.Glu3996Gln		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.E3996Q	ENST00000378402.5	37	c.11986	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513630	0.44763	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.87966	-2.32;-2.11	5.93	5.01	0.66863	.	0.053759	0.64402	D	0.000001	T	0.79131	0.4394	L	0.35644	1.08	0.30683	N	0.752099	P	0.36086	0.536	B	0.30029	0.11	T	0.78306	-0.2255	10	0.33940	T	0.23	.	12.6732	0.56878	0.0:0.2765:0.7234:0.0	.	3996	Q86WI1	PKHL1_HUMAN	Q	3996;924	ENSP00000367655:E3996Q;ENSP00000437376:E924Q	ENSP00000367655:E3996Q	E	+	1	0	PKHD1L1	110599868	1.000000	0.71417	0.968000	0.41197	0.291000	0.27294	4.240000	0.58701	2.798000	0.96311	0.655000	0.94253	GAG	PKHD1L1	-	NULL		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110530692	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	0.998	C	C	110530692	G	C	110530692	3	2	164	1	0	0	0	0	1	0	0	0	11996	943	33	1	12276	1	PKHD1L1	8	110530692	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	69030	110530692	35833330	345	31133										
SYBU	55638	genome.wustl.edu	37	chr8	110587800	110587800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggtggctgtcactatctcatCgaacaaatctgtgctgttgg	11	9	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:110587800C>T	ENST00000422135.1	-	8	1842	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	SYBU_ENST00000533171.1_Missense_Mutation_p.D443N|SYBU_ENST00000529175.1_Missense_Mutation_p.D237N|SYBU_ENST00000399066.3_Missense_Mutation_p.D440N|SYBU_ENST00000408889.3_Missense_Mutation_p.D324N|SYBU_ENST00000533895.1_Missense_Mutation_p.D442N|SYBU_ENST00000440310.1_Missense_Mutation_p.D443N|SYBU_ENST00000276646.9_Missense_Mutation_p.D443N|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000528331.1_Missense_Mutation_p.D324N|SYBU_ENST00000408908.2_Missense_Mutation_p.D443N|SYBU_ENST00000528647.1_Missense_Mutation_p.D442N|SYBU_ENST00000433638.1_Missense_Mutation_p.D443N|SYBU_ENST00000446070.2_Missense_Mutation_p.D442N|SYBU_ENST00000532779.1_Missense_Mutation_p.D375N|SYBU_ENST00000419099.1_Missense_Mutation_p.D442N|SYBU_ENST00000424158.2_Missense_Mutation_p.D448N|SYBU_ENST00000533065.1_Missense_Mutation_p.D324N|SYBU_ENST00000529690.1_Missense_Mutation_p.D313N	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	443					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ACTATCTCATCGAACAAATCT	0.552																																																	0													149	151	150					8																	110587800		2072	4213	6285	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1327G>A	8.37:g.110587800C>T	ENSP00000407118:p.Asp443Asn		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.D443N	ENST00000422135.1	37	c.1327	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401216	0.25291	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.98	5.1	0.69264	.	0.375243	0.31936	N	0.006826	T	0.46444	0.1393	L	0.58101	1.795	0.39830	D	0.972965	P;B;P;P;P	0.48230	0.907;0.335;0.51;0.519;0.733	B;B;B;B;B	0.33521	0.131;0.038;0.165;0.084;0.084	T	0.56571	-0.7957	9	0.54805	T	0.06	-8.2349	15.8962	0.79336	0.0:0.7256:0.2744:0.0	.	313;375;442;443;440	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	N	442;448;375;440;442;324;237;443;442;443;442;443;443;443;324;324;313;443	.	ENSP00000276646:D443N	D	-	1	0	SYBU	110656976	0.998000	0.40836	0.164000	0.22755	0.012000	0.07955	3.836000	0.55813	1.513000	0.48852	0.591000	0.81541	GAT	SYBU	-	NULL		0.552	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	C	NM_017786		110587800	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	missense	SNP	0.989	T	T	110587800	C	T	110587800	3	4	164	1	0	0	0	0	1	0	0	0	15457	884	31	1	668	1	SYBU	8	110587800	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	57108	110587800	35776222	346	31134										
CSMD3	114788	genome.wustl.edu	37	chr8	113649101	113649101	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cggccaccaccaagacagatGatctctgatgttccttccag	8	14	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:113649101G>A	ENST00000297405.5	-	22	3904	c.3660C>T	c.(3658-3660)atC>atT	p.I1220I	CSMD3_ENST00000343508.3_Silent_p.I1180I|CSMD3_ENST00000455883.2_Silent_p.I1116I|CSMD3_ENST00000352409.3_Silent_p.I1220I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1220	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGACAGATGATCTCTGATG	0.498										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													231	161	185					8																	113649101		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3660C>T	8.37:g.113649101G>A			Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.I1220	ENST00000297405.5	37	c.3660	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.498	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113649101	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	silent	SNP	1.000	A	A	113649101	G	A	113649101	2	1	164	1	0	0	0	0	0	0	0	1	3951	1280	45	1		1	CSMD3	8	113649101	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3061301	113649101	32714921	347	31135										
CSMD3	114788	genome.wustl.edu	37	chr8	113668533	113668533	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagaagatttggcccatcatGaacttccagaacatcataat	6	10	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:113668533G>A	ENST00000297405.5	-	18	3098	c.2854C>T	c.(2854-2856)Cat>Tat	p.H952Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H912Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H848Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H952Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	952	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCCCATCATGAACTTCCAGA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													68	74	72					8																	113668533		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2854C>T	8.37:g.113668533G>A	ENSP00000297405:p.His952Tyr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.H952Y	ENST00000297405.5	37	c.2854	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131272	0.21041	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.12	5.12	0.69794	CUB (5);	0.000000	0.64402	D	0.000001	T	0.38268	0.1034	N	0.00510	-1.415	0.44728	D	0.997727	D;D;D	0.71674	0.997;0.998;0.975	D;D;P	0.85130	0.995;0.997;0.836	T	0.50783	-0.8787	10	0.02654	T	1	.	18.9148	0.92501	0.0:0.0:1.0:0.0	.	848;952;912	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	912;952;292;848;952	ENSP00000345799:H912Y;ENSP00000297405:H952Y;ENSP00000341558:H292Y;ENSP00000412263:H848Y;ENSP00000343124:H952Y	ENSP00000297405:H952Y	H	-	1	0	CSMD3	113737709	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	7.924000	0.87555	2.537000	0.85549	0.585000	0.79938	CAT	CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113668533	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113668533	G	A	113668533	3	1	164	1	0	0	0	0	1	0	0	0	3951	1290	45	1	8485	1	CSMD3	8	113668533	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	19432	113668533	32695489	348	31136										
KLHL38	340359	genome.wustl.edu	37	chr8	124664078	124664078	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcatgggctcccccagcctCcactgattgagtttcaggga	11	13	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:124664078C>G	ENST00000325995.7	-	1	1112	c.1089G>C	c.(1087-1089)tgG>tgC	p.W363C	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	363										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCCCCAGCCTCCACTGATTGA	0.577																																																	0													62	64	63					8																	124664078		2018	4190	6208	SO:0001583	missense	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1089G>C	8.37:g.124664078C>G	ENSP00000321475:p.Trp363Cys		A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.W363C	ENST00000325995.7	37	c.1089	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496168	0.64186	.	.	ENSG00000175946	ENST00000325995	T	0.79352	-1.26	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.107851	0.64402	D	0.000002	D	0.90601	0.7053	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92323	0.5867	10	0.87932	D	0	.	19.0609	0.93093	0.0:1.0:0.0:0.0	.	363	Q2WGJ6	KLH38_HUMAN	C	363	ENSP00000321475:W363C	ENSP00000321475:W363C	W	-	3	0	KLHL38	124733259	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.729000	0.84864	2.571000	0.86741	0.561000	0.74099	TGG	KLHL38	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.577	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	C			124664078	-1	no_errors	ENST00000325995	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124664078	C	G	124664078	3	3	164	1	0	0	0	0	1	0	0	0	8410	856	30	1	668	1	KLHL38	8	124664078	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10995545	124664078	21699944	349	31137										
ASAP1	50807	genome.wustl.edu	37	chr8	131088615	131088615	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttctgaggtagtttaggaaGaactcttgggccaagggcag	14	6	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:131088615G>A	ENST00000518721.1	-	27	2907	c.2680C>T	c.(2680-2682)Ctt>Ttt	p.L894F	ASAP1_ENST00000357668.1_Missense_Mutation_p.L894F	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	894	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGTTTAGGAAGAACTCTTGGG	0.373																																																	0													85	84	84					8																	131088615		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2680C>T	8.37:g.131088615G>A	ENSP00000429900:p.Leu894Phe		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.L894F	ENST00000518721.1	37	c.2680	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.34|18.34	3.601708|3.601708	0.66445|0.66445	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.07567|.	3.18;3.18|.	5.49|5.49	4.61|4.61	0.57282|0.57282	.|.	0.447010|.	0.19932|.	N|.	0.102829|.	T|T	0.60702|0.60702	0.2289|0.2289	L|L	0.53249|0.53249	1.67|1.67	0.51482|0.51482	D|D	0.999922|0.999922	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.85130|.	0.994;0.994;0.997|.	T|T	0.58645|0.58645	-0.7600|-0.7600	10|5	0.27082|.	T|.	0.32|.	.|.	10.7327|10.7327	0.46107|0.46107	0.0885:0.0:0.9115:0.0|0.0885:0.0:0.9115:0.0	.|.	894;894;897|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	F|F	897;894;894|714;250	ENSP00000350297:L894F;ENSP00000429900:L894F|.	ENSP00000344591:L897F|.	L|S	-|-	1|2	0|0	ASAP1|ASAP1	131157797|131157797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.731000|6.731000	0.74785|0.74785	1.452000|1.452000	0.47756|0.47756	-0.163000|-0.163000	0.13421|0.13421	CTT|TCT	ASAP1	-	NULL		0.373	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	G	NM_018482		131088615	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131088615	G	A	131088615	3	1	164	1	0	0	0	0	1	0	0	0	1011	942	33	1	725	1	ASAP1	8	131088615	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6424537	131088615	15275407	350	31138										
ADCY8	114	genome.wustl.edu	37	chr8	131848627	131848627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcagcagcactgccagcttCaggacggagttcagccggag	13	12	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:131848627C>T	ENST00000286355.5	-	12	4663	c.2571G>A	c.(2569-2571)ctG>ctA	p.L857L	ADCY8_ENST00000377928.3_Silent_p.L726L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	857					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCCAGCTTCAGGACGGAGT	0.532										HNSCC(32;0.087)																																							0													147	114	125					8																	131848627		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2571G>A	8.37:g.131848627C>T				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L857	ENST00000286355.5	37	c.2571	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.532	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131848627	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	T	T	131848627	C	T	131848627	2	4	164	1	0	0	0	0	0	0	0	1	300	813	29	1		1	ADCY8	8	131848627	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	760012	131848627	14515395	351	31139										
SLA	6503	genome.wustl.edu	37	chr8	134072369	134072369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgggttgggcaggggcctctCggcaggcgcaggggtggatt	21	9	1	0	rs376259266		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:134072369C>T	ENST00000338087.5	-	3	856	c.37G>A	c.(37-39)Gag>Aag	p.E13K	TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.E30K|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000524345.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.E30K|TG_ENST00000542445.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.E53K	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	13					positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AGGGGCCTCTCGGCAGGCGCA	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		15793	0		0	False		,,,				2504	0																0								C	LYS/GLU,LYS/GLU,LYS/GLU,	0,4406		0,0,2203	145	157	153		37,88,157,	5.5	1	8		153	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron	SLA,TG	NM_001045556.2,NM_001045557.2,NM_006748.3,NM_003235.4	56,56,56,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,	13/277,30/294,53/317,	134072369	1,13005	2203	4300	6503	SO:0001583	missense	6503				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.37G>A	8.37:g.134072369C>T	ENSP00000337548:p.Glu13Lys		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.E53K	ENST00000338087.5	37	c.157	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706920	0.48412	0.0	1.16E-4	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119;ENST00000519341;ENST00000521302;ENST00000523610;ENST00000519747;ENST00000519558	T;T;T;T;T;T;T;T;T	0.79454	-1.13;-1.1;-1.08;2.4;-0.75;1.27;0.51;0.45;-1.27	5.54	5.54	0.83059	Src homology-3 domain (1);	0.341197	0.34932	N	0.003574	T	0.67581	0.2908	L	0.44542	1.39	0.42236	D	0.991914	P;P;P;P;B;P	0.49358	0.923;0.727;0.727;0.76;0.327;0.727	B;B;B;B;B;B	0.33521	0.165;0.078;0.078;0.062;0.017;0.078	T	0.73369	-0.4004	10	0.51188	T	0.08	-43.6053	15.3214	0.74124	0.0:1.0:0.0:0.0	.	30;13;13;13;13;13	B7Z4J2;Q6FI01;Q5TZW1;E5RHT2;E5RJ69;Q13239	.;.;.;.;.;SLAP1_HUMAN	K	13;53;30;30;13;13;13;13;13;13	ENSP00000337548:E13K;ENSP00000394049:E53K;ENSP00000378759:E30K;ENSP00000428559:E30K;ENSP00000430596:E13K;ENSP00000429681:E13K;ENSP00000430184:E13K;ENSP00000428087:E13K;ENSP00000428971:E13K	ENSP00000337548:E13K	E	-	1	0	SLA	134141551	0.994000	0.37717	0.965000	0.40720	0.252000	0.25951	4.086000	0.57664	2.755000	0.94549	0.563000	0.77884	GAG	SLA	-	superfamily_SH3_domain		0.582	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	HGNC	protein_coding	OTTHUMT00000378771.1	C			134072369	-1	no_errors	ENST00000427060	ensembl	human	known	70_37	missense	SNP	0.983	T	T	134072369	C	T	134072369	3	4	164	1	0	0	0	0	1	0	0	0	14393	893	31	1	821	1	SLA	8	134072369	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2223742	134072369	12291653	352	31140										
PLEC	5339	genome.wustl.edu	37	chr8	145007171	145007171	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcggggcgcctctgcacactCtgcagagtcacctgggccac	12	16	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:145007171C>G	ENST00000322810.4	-	14	2107	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	PLEC_ENST00000357649.2_Missense_Mutation_p.Q513H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q509H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q509H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q536H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q477H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q487H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q532H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q495H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	646	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTGCACACTCTGCAGAGTCA	0.672																																																	0													16	20	19					8																	145007171		2000	4167	6167	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1938G>C	8.37:g.145007171C>G	ENSP00000323856:p.Gln646His		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q646H	ENST00000322810.4	37	c.1938	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834638	0.32421	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;D	0.90504	-1.12;-1.11;-1.15;-1.15;-1.13;-1.12;-1.12;-1.12;-1.12;-2.68	5.12	4.22	0.49857	.	1.033120	0.07732	U	0.945446	D	0.86447	0.5935	L	0.36672	1.1	0.39188	D	0.962902	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.72027	-0.4414	10	0.18276	T	0.48	.	13.0453	0.58922	0.0:0.6907:0.3093:0.0	.	536;495;487;646;477;509;513;509	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	509;513;509;477;646;487;495;536;532;553	ENSP00000344848:Q509H;ENSP00000350277:Q513H;ENSP00000346602:Q509H;ENSP00000381756:Q477H;ENSP00000323856:Q646H;ENSP00000347044:Q487H;ENSP00000348702:Q495H;ENSP00000388180:Q536H;ENSP00000434583:Q532H;ENSP00000437303:Q553H	ENSP00000323856:Q646H	Q	-	3	2	PLEC	145079159	0.016000	0.18221	0.018000	0.16275	0.891000	0.51852	1.145000	0.31577	1.111000	0.41721	0.643000	0.83706	CAG	PLEC	-	NULL		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145007171	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.839	G	G	145007171	C	G	145007171	3	3	164	1	0	0	0	0	1	0	0	0	12076	912	32	1	12192	1	PLEC	8	145007171	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10934802	145007171	1356851	353	31141										
OPLAH	26873	genome.wustl.edu	37	chr8	145111904	145111904	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cactgctcctccaggcggctCagcctctggtccagctgcac	10	18	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:145111904C>T	ENST00000426825.1	-	12	1734	c.1653G>A	c.(1651-1653)ctG>ctA	p.L551L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	551					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGCGGCTCAGCCTCTGGT	0.677																																																	0													22	29	26					8																	145111904		2127	4233	6360	SO:0001819	synonymous_variant	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1653G>A	8.37:g.145111904C>T			A5PKY8|Q75W65|Q9Y4Q0	RNA	SNP	-	NULL	ENST00000426825.1	37	NULL		8																																																																																			OPLAH	-	-		0.677	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		C	NM_017570		145111904	-1	no_errors	ENST00000426825	ensembl	human	known	70_37	rna	SNP	0.996	T	T	145111904	C	T	145111904	2	4	164	1	0	0	0	0	0	0	0	1	10900	813	29	1		1	OPLAH	8	145111904	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	104733	145111904	1252118	354	31142										
FREM1	158326	genome.wustl.edu	37	chr9	14859349	14859349	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gaatctgagcagatttttatCaatcgcttgggacaagccat	9	8	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:14859349C>T	ENST00000380880.3	-	4	1246	c.463G>A	c.(463-465)Gat>Aat	p.D155N	FREM1_ENST00000380881.4_Missense_Mutation_p.D155N|FREM1_ENST00000422223.2_Missense_Mutation_p.D155N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	155					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGATTTTTATCAATCGCTTGG	0.488																																																	0													132	130	131					9																	14859349		1904	4125	6029	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.463G>A	9.37:g.14859349C>T	ENSP00000370262:p.Asp155Asn		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.D155N	ENST00000380880.3	37	c.463	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807546	0.50421	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.18502	2.22;2.21;2.21	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.69248	2.105	0.51767	D	0.999932	B	0.32893	0.389	B	0.31442	0.13	T	0.01159	-1.1433	10	0.39692	T	0.17	-20.3095	14.2654	0.66113	0.0:0.9291:0.0:0.0709	.	155	Q5H8C1	FREM1_HUMAN	N	155	ENSP00000370263:D155N;ENSP00000412940:D155N;ENSP00000370262:D155N	ENSP00000370257:D155N	D	-	1	0	FREM1	14849349	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	5.460000	0.66691	2.756000	0.94617	0.561000	0.74099	GAT	FREM1	-	NULL		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	C	NM_144966		14859349	-1	no_errors	ENST00000380881	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14859349	C	T	14859349	3	4	164	1	0	0	0	0	1	0	0	0	6062	826	29	1	6262	1	FREM1	9	14859349	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09		14859349	126354082	355	31143										
KIAA1797	54914	genome.wustl.edu	37	chr9	20929372	20929372	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctagaagtcctattctggtGaaaacacagctagtgccatt	8	10	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:20929372G>A	ENST00000380249.1	+	29	3458	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	FOCAD_ENST00000605086.1_Missense_Mutation_p.E468K|FOCAD_ENST00000338382.6_Missense_Mutation_p.E1032K	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1032						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CTATTCTGGTGAAAACACAGC	0.438																																																	0													88	84	86					9																	20929372		2203	4300	6503	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3094G>A	9.37:g.20929372G>A	ENSP00000369599:p.Glu1032Lys		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.E1032K	ENST00000380249.1	37	c.3094	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.421162	0.96111	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08282	3.11;3.11	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00119	-1.2032	10	0.59425	D	0.04	-11.1249	20.3736	0.98901	0.0:0.0:1.0:0.0	.	1032	Q5VW36	K1797_HUMAN	K	1032	ENSP00000369599:E1032K;ENSP00000344307:E1032K	ENSP00000344307:E1032K	E	+	1	0	KIAA1797	20919372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.339000	0.79282	2.820000	0.97059	0.650000	0.86243	GAA	FOCAD	-	superfamily_ARM-type_fold		0.438	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	G	NM_017794		20929372	1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20929372	G	A	20929372	3	1	164	1	0	0	0	0	1	0	0	0	8278	1291	45	1	3196	1	KIAA1797	9	20929372	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6070023	20929372	120284059	356	31144										
CDKN2A	1029	genome.wustl.edu	37	chr9	21974735	21974735	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcagcgcccccgcctccagcAgcgcccgcacctcctctacc	8	24	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:21974735A>C	ENST00000304494.5	-	1	362	c.92T>G	c.(91-93)cTg>cGg	p.L31R	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L31R|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L31R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L31R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	31					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.R29_A34del(2)|p.0(1)|p.V28_V51del(1)|p.R29fs*9(1)|p.L31P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCCTCCAGCAGCGCCCGCAC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1346	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(5)|Substitution - Missense(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(278)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(52)|upper_aerodigestive_tract(48)|ovary(34)|pancreas(32)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											27	35	32					9																	21974735		1969	3960	5929	SO:0001583	missense	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.92T>G	9.37:g.21974735A>C	ENSP00000307101:p.Leu31Arg		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.L31R	ENST00000304494.5	37	c.92	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	A	25.2	4.613930	0.87359	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.90197	-2.63;-2.63	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.97021	0.9027	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.938	D	0.97289	0.9923	9	0.87932	D	0	.	10.101	0.42504	0.8316:0.1684:0.0:0.0	.	31;31	P42771;G3XAG3	CD2A1_HUMAN;.	R	31	ENSP00000307101:L31R;ENSP00000394932:L31R	ENSP00000307101:L31R	L	-	2	0	CDKN2A	21964735	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.546000	0.73887	2.165000	0.68154	0.533000	0.62120	CTG	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	A	NM_000077		21974735	-1	no_errors	ENST00000446177	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21974735	A	C	21974735	3	2	164	1	0	0	0	0	1	0	0	0	3166	188	7	5	591	5	CDKN2A	9	21974735	Missense_Mutation	SNP	A	TCGA-JX-A3Q0-01A-11D-A21Q-09	1045363	21974735	119238696	357	31145										
NOL6	65083	genome.wustl.edu	37	chr9	33465793	33465793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctctcaaggcggagggaggCagctgtgtccctcagcgaga	15	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:33465793C>T	ENST00000379471.2	-	19	2554	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.A771T			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	823					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CGGAGGGAGGCAGCTGTGTCC	0.602																																																	0													76	60	65					9																	33465793		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2467G>A	9.37:g.33465793C>T	ENSP00000368784:p.Ala823Thr		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.A823T	ENST00000379471.2	37	c.2467		9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087332	0.76642	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.43688	0.94;0.94;0.94	5.94	5.94	0.96194	.	0.101987	0.64402	D	0.000003	T	0.50480	0.1618	M	0.71036	2.16	0.53005	D	0.999964	P;P;P;P	0.49961	0.93;0.914;0.914;0.93	P;P;B;B	0.46172	0.506;0.497;0.372;0.425	T	0.41980	-0.9478	10	0.15499	T	0.54	.	20.3594	0.98849	0.0:1.0:0.0:0.0	.	771;820;823;823	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	T	823;823;379;823;771	ENSP00000297990:A823T;ENSP00000368784:A823T;ENSP00000395915:A771T	ENSP00000297990:A823T	A	-	1	0	NOL6	33455793	1.000000	0.71417	0.952000	0.39060	0.291000	0.27294	7.487000	0.81328	2.816000	0.96949	0.563000	0.77884	GCC	NOL6	-	pfam_Nrap		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	C	NM_022917		33465793	-1	no_errors	ENST00000297990	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33465793	C	T	33465793	3	4	164	1	0	0	0	0	1	0	0	0	10549	710	25	4	1005	4	NOL6	9	33465793	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	11491058	33465793	107747638	358	31146										
TMEM8B	51754	genome.wustl.edu	37	chr9	35846020	35846020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtttggatgcttgactcacGaggtgcccttgagcctgggg	15	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:35846020G>A	ENST00000377991.4	+	8	1343	c.328G>A	c.(328-330)Gag>Aag	p.E110K	TMEM8B_ENST00000473947.1_3'UTR|TMEM8B_ENST00000377988.2_Missense_Mutation_p.E110K|TMEM8B_ENST00000439587.2_Missense_Mutation_p.E110K|TMEM8B_ENST00000377996.1_Missense_Mutation_p.E110K	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	110					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CTTGACTCACGAGGTGCCCTT	0.617																																																	0													105	87	93					9																	35846020		2203	4300	6503	SO:0001583	missense	51754			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.328G>A	9.37:g.35846020G>A	ENSP00000367230:p.Glu110Lys		B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	pfam_DUF3522	p.E110K	ENST00000377991.4	37	c.328	CCDS43800.1	9	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570726	0.45798	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.43688	0.94;0.94;0.95;0.95	5.19	5.19	0.71726	.	0.276343	0.35970	N	0.002876	T	0.32882	0.0844	N	0.19112	0.55	0.38240	D	0.941298	B;D	0.63046	0.102;0.992	B;P	0.48063	0.012;0.565	T	0.11108	-1.0601	10	0.06099	T	0.92	-8.5919	17.7363	0.88394	0.0:0.0:1.0:0.0	.	110;474	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	K	110	ENSP00000367235:E110K;ENSP00000395810:E110K;ENSP00000367230:E110K;ENSP00000367227:E110K	ENSP00000367227:E110K	E	+	1	0	TMEM8B	35836020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.572000	0.90756	2.426000	0.82243	0.561000	0.74099	GAG	TMEM8B	-	NULL		0.617	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8B	HGNC	protein_coding	OTTHUMT00000052388.2	G	NM_016446		35846020	1	no_errors	ENST00000377988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35846020	G	A	35846020	3	1	164	1	0	0	0	0	1	0	0	0	16245	1059	37	1	334	1	TMEM8B	9	35846020	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2380227	35846020	105367411	359	31147										
FAM75A1	642265	genome.wustl.edu	37	chr9	39887980	39887980	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcctgtttttgctcagctctGatggccagaatgccgtgggg	14	10	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:39887980G>A	ENST00000456183.2	+	4	996	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	323					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCTCAGCTCTGATGGCCAGAA	0.488																																																	0													1	1	1					9																	39887980		34	62	96	SO:0001583	missense	647060					9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A2"	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.967G>A	9.37:g.39887980G>A	ENSP00000406957:p.Asp323Asn			Missense_Mutation	SNP	NULL	p.D323N	ENST00000456183.2	37	c.967	CCDS43809.1	9	.	.	.	.	.	.	.	.	.	.	G	8.823	0.937999	0.18206	.	.	ENSG00000204848	ENST00000456183	T	0.06933	3.24	1.27	0.25	0.15535	.	1.396580	0.04621	N	0.402076	T	0.20210	0.0486	L	0.58510	1.815	0.09310	N	1	D	0.64830	0.994	P	0.61477	0.889	T	0.14035	-1.0487	10	0.62326	D	0.03	-1.7154	5.1979	0.15249	0.0:0.3746:0.6254:0.0	.	323	Q5RGS2	F75A2_HUMAN	N	323	ENSP00000406957:D323N	ENSP00000406957:D323N	D	+	1	0	FAM75A2	39877980	0.002000	0.14202	0.037000	0.18230	0.090000	0.18270	0.074000	0.14662	0.125000	0.18397	0.121000	0.15741	GAT	SPATA31A2	-	NULL		0.488	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A2	HGNC	protein_coding	OTTHUMT00000037739.1	G	NM_001040065		39887980	1	no_errors	ENST00000456183	ensembl	human	known	70_37	missense	SNP	0.040	A	A	39887980	G	A	39887980	3	1	164	1	0	0	0	0	1	0	0	0	5637	1290	45	1	5041	1	FAM75A1	9	39887980	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4041960	39887980	101325451	360	31148										
UBQLN1	29979	genome.wustl.edu	37	chr9	86292833	86292833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaggttgactaccttcaccaGaggatgtattgctcaccaag	9	10	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:86292833G>A	ENST00000376395.4	-	6	1437	c.914C>T	c.(913-915)tCt>tTt	p.S305F	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S305F	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	305					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						ACCTTCACCAGAGGATGTATT	0.403																																					Melanoma(186;1284 2073 12755 14558 18426)												0													77	75	75					9																	86292833		2203	4300	6503	SO:0001583	missense	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.914C>T	9.37:g.86292833G>A	ENSP00000365576:p.Ser305Phe		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.S305F	ENST00000376395.4	37	c.914	CCDS6663.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.114900	0.94339	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	D;D;D	0.81579	-1.51;-1.51;-1.51	5.82	5.82	0.92795	.	0.190144	0.37761	N	0.001957	D	0.84220	0.5424	L	0.39898	1.24	0.80722	D	1	D;D	0.58970	0.96;0.984	P;P	0.55824	0.785;0.736	D	0.85043	0.0924	10	0.72032	D	0.01	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	305;305	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	F	305;305;102	ENSP00000365576:S305F;ENSP00000257468:S305F;ENSP00000434194:S102F	ENSP00000257468:S305F	S	-	2	0	UBQLN1	85482653	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	6.311000	0.72835	2.756000	0.94617	0.561000	0.74099	TCT	UBQLN1	-	NULL		0.403	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	G	NM_013438		86292833	-1	no_errors	ENST00000376395	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86292833	G	A	86292833	3	1	164	1	0	0	0	0	1	0	0	0	16927	942	33	1	879	1	UBQLN1	9	86292833	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	46404853	86292833	54920598	361	31149										
SHC3	53358	genome.wustl.edu	37	chr9	91661881	91661881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgagccatctccctcctcttCcgtccatggctcatccagac	6	18	3	2	rs138519014		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:91661881C>T	ENST00000375835.4	-	8	1297	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	331	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCCTCCTCTTCCGTCCATGGC	0.473																																																	0								C	LYS/GLU	0,4406		0,0,2203	135	117	123		991	3.6	0.5	9	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	missense	SHC3	NM_016848.5	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	331/595	91661881	2,13004	2203	4300	6503	SO:0001583	missense	53358			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.991G>A	9.37:g.91661881C>T	ENSP00000364995:p.Glu331Lys		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.E331K	ENST00000375835.4	37	c.991	CCDS6681.1	9	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814173	0.32053	0.0	2.33E-4	ENSG00000148082	ENST00000375835	T	0.32272	1.46	5.44	3.61	0.41365	.	0.052621	0.85682	N	0.000000	T	0.32406	0.0828	M	0.63843	1.955	0.80722	D	1	B	0.13145	0.007	B	0.19946	0.027	T	0.12192	-1.0557	10	0.49607	T	0.09	-14.0458	12.612	0.56556	0.0:0.8708:0.0:0.1292	.	331	Q92529	SHC3_HUMAN	K	331	ENSP00000364995:E331K	ENSP00000364995:E331K	E	-	1	0	SHC3	90851701	1.000000	0.71417	0.545000	0.28153	0.024000	0.10985	5.387000	0.66243	0.854000	0.35336	0.655000	0.94253	GAA	SHC3	-	NULL		0.473	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC3	HGNC	protein_coding	OTTHUMT00000052986.1	C	NM_016848		91661881	-1	no_errors	ENST00000375835	ensembl	human	known	70_37	missense	SNP	0.993	T	T	91661881	C	T	91661881	3	4	164	1	0	0	0	0	1	0	0	0	14302	864	30	1	813	1	SHC3	9	91661881	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5369048	91661881	49551550	362	31150										
C9orf89	84270	genome.wustl.edu	37	chr9	95870053	95870053	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gacaggatcatcctccagctGaaccgttactacccacagat	7	14	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:95870053G>C	ENST00000375464.2	+	2	233	c.105G>C	c.(103-105)ctG>ctC	p.L35L		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	35	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TCCTCCAGCTGAACCGTTACT	0.562																																																	0													100	76	84					9																	95870053		2203	4300	6503	SO:0001819	synonymous_variant	84270			AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"Bcl10-interacting protein with CARD"					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.105G>C	9.37:g.95870053G>C			Q5BJH8|Q9BSY2	Silent	SNP	superfamily_DEATH-like	p.L35	ENST00000375464.2	37	c.105	CCDS6702.2	9																																																																																			C9orf89	-	NULL		0.562	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf89	HGNC	protein_coding	OTTHUMT00000053128.1	G	NM_032310		95870053	1	no_errors	ENST00000466409	ensembl	human	known	70_37	silent	SNP	0.999	C	C	95870053	G	C	95870053	2	2	164	1	0	0	0	0	0	0	0	1	2508	1277	45	1		1	C9orf89	9	95870053	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4208172	95870053	45343378	363	31151										
CDC14B	8555	genome.wustl.edu	37	chr9	99266066	99266066	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgttttagtccttgaaatgGagagactacagggggaaaaa	12	5	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:99266066G>C	ENST00000375241.1	-	14	1917	c.1466C>G	c.(1465-1467)tCc>tGc	p.S489C	CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000375242.3_Missense_Mutation_p.S452C|CDC14B_ENST00000375240.3_Missense_Mutation_p.S450C	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	489					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCTTGAAATGGAGAGACTACA	0.393																																																	0													77	74	75					9																	99266066		2203	4300	6503	SO:0001583	missense	8555			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1719	protein-coding gene	gene with protein product		603505	"CDC14 (cell division cycle 14, S. cerevisiae) homolog B", "CDC14 cell division cycle 14 homolog B (S. cerevisiae)"			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1466C>G	9.37:g.99266066G>C	ENSP00000364389:p.Ser489Cys		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S489C	ENST00000375241.1	37	c.1466	CCDS6722.1	9	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473725	0.43942	.	.	ENSG00000081377	ENST00000375241;ENST00000375240;ENST00000375242	D;D;D	0.92595	-3.07;-2.96;-3.04	4.88	4.88	0.63580	.	1.304180	0.04887	N	0.448739	D	0.89230	0.6656	N	0.14661	0.345	0.80722	D	1	P;P;P	0.45396	0.857;0.855;0.698	P;B;B	0.44623	0.455;0.326;0.326	T	0.80348	-0.1420	10	0.54805	T	0.06	-14.3136	15.3465	0.74343	0.0:0.0:1.0:0.0	.	450;489;452	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	C	489;450;452	ENSP00000364389:S489C;ENSP00000364388:S450C;ENSP00000364390:S452C	ENSP00000364388:S450C	S	-	2	0	CDC14B	98305887	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	5.977000	0.70492	2.537000	0.85549	0.557000	0.71058	TCC	CDC14B	-	NULL		0.393	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC14B	HGNC	protein_coding	OTTHUMT00000053278.2	G	NM_033331		99266066	-1	no_errors	ENST00000375241	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99266066	G	C	99266066	3	2	164	1	0	0	0	0	1	0	0	0	3062	1174	41	1	34	1	CDC14B	9	99266066	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3396013	99266066	41947365	364	31152										
ZNF510	22869	genome.wustl.edu	37	chr9	99522049	99522049	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcttctatgacagctgtttGaggatcagtgaggtgtgcct	12	8	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:99522049G>A	ENST00000375231.1	-	6	1713	c.1063C>T	c.(1063-1065)Caa>Taa	p.Q355*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.Q355*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ACAGCTGTTTGAGGATCAGTG	0.343																																																	0													147	137	141					9																	99522049		2203	4300	6503	SO:0001587	stop_gained	22869			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1063C>T	9.37:g.99522049G>A	ENSP00000364379:p.Gln355*		Q5SZP5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q355*	ENST00000375231.1	37	c.1063	CCDS35074.1	9	.	.	.	.	.	.	.	.	.	.	g	39	7.356794	0.98235	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	.	.	.	2.97	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.6785	0.40056	0.0:0.0:1.0:0.0	.	.	.	.	X	355	.	ENSP00000223428:Q355X	Q	-	1	0	ZNF510	98561870	0.000000	0.05858	0.057000	0.19452	0.016000	0.09150	-0.154000	0.10130	1.974000	0.57490	0.561000	0.74099	CAA	ZNF510	-	NULL		0.343	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF510	HGNC	protein_coding	OTTHUMT00000053287.1	G	NM_014930		99522049	-1	no_errors	ENST00000223428	ensembl	human	known	70_37	nonsense	SNP	0.091	A	A	99522049	G	A	99522049	4	1	164	1	0	0	0	0	0	1	0	0	17984	1299	45	1	992	1	ZNF510	9	99522049	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	255983	99522049	41691382	365	31153										
SVEP1	79987	genome.wustl.edu	37	chr9	113141679	113141679	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttttctaaacaaacactcctCaggaaaccctccaacatgta	3	13	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:113141679C>G	ENST00000401783.2	-	44	10692	c.10356G>C	c.(10354-10356)ctG>ctC	p.L3452L	SVEP1_ENST00000374469.1_Silent_p.L3429L|SVEP1_ENST00000297826.5_Silent_p.L1378L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3452	Sushi 34. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAACACTCCTCAGGAAACCCT	0.398																																																	0													116	106	109					9																	113141679		1888	4130	6018	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10356G>C	9.37:g.113141679C>G			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.L3452	ENST00000401783.2	37	c.10356	CCDS48004.1	9																																																																																			SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113141679	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	silent	SNP	0.190	G	G	113141679	C	G	113141679	2	3	164	1	0	0	0	0	0	0	0	1	15450	813	29	1		1	SVEP1	9	113141679	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	13619630	113141679	28071752	366	31154										
SVEP1	79987	genome.wustl.edu	37	chr9	113208160	113208160	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggtattgtcgctgccgttatCaactgcataggagattggtg	13	7	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:113208160C>T	ENST00000401783.2	-	26	4756	c.4420G>A	c.(4420-4422)Gat>Aat	p.D1474N	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1451N|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1474N|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1474	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCCGTTATCAACTGCATAG	0.458																																																	0													174	167	170					9																	113208160		1962	4162	6124	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4420G>A	9.37:g.113208160C>T	ENSP00000384917:p.Asp1474Asn		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.D1474N	ENST00000401783.2	37	c.4420	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461081	0.63513	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.73152	0.15;0.15;-0.72	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.190460	0.56097	D	0.000038	T	0.59445	0.2194	N	0.14661	0.345	0.43179	D	0.994998	P;B	0.40578	0.722;0.324	B;B	0.39738	0.308;0.243	T	0.63143	-0.6703	10	0.44086	T	0.13	.	19.75	0.96263	0.0:1.0:0.0:0.0	.	1474;1474	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	N	1474;1451;1474	ENSP00000384917:D1474N;ENSP00000363593:D1451N;ENSP00000304118:D1474N	ENSP00000304118:D1474N	D	-	1	0	SVEP1	112247981	1.000000	0.71417	0.792000	0.32020	0.077000	0.17291	7.383000	0.79741	2.749000	0.94314	0.655000	0.94253	GAT	SVEP1	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113208160	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113208160	C	T	113208160	3	4	164	1	0	0	0	0	1	0	0	0	15450	826	29	1	6387	1	SVEP1	9	113208160	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	66481	113208160	28005271	367	31155										
AKNA	80709	genome.wustl.edu	37	chr9	117130767	117130767	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggccgggcccggccaccactCtgcagagcggggctgtggga	18	14	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:117130767C>G	ENST00000307564.4	-	5	1686	c.1525G>C	c.(1525-1527)Gag>Cag	p.E509Q	AKNA_ENST00000374088.3_Missense_Mutation_p.E509Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E509Q|AKNA_ENST00000374075.5_Missense_Mutation_p.E428Q|AKNA_ENST00000223791.3_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	509					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCCACCACTCTGCAGAGCGG	0.667																																																	0													48	41	43					9																	117130767		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1525G>C	9.37:g.117130767C>G	ENSP00000303769:p.Glu509Gln		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.E509Q	ENST00000307564.4	37	c.1525	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559828	0.27827	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.34859	2.55;2.55;2.55;1.34	4.87	-0.553	0.11815	.	0.518379	0.16885	N	0.195541	T	0.26629	0.0651	L	0.46157	1.445	0.09310	N	0.999999	B;B	0.19331	0.02;0.035	B;B	0.16289	0.007;0.015	T	0.24119	-1.0169	10	0.20519	T	0.43	-2.628	10.184	0.42986	0.0:0.3027:0.6101:0.0873	.	509;428	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Q	509;350;509;428;509	ENSP00000303769:E509Q;ENSP00000363201:E509Q;ENSP00000363188:E428Q;ENSP00000309222:E509Q	ENSP00000303769:E509Q	E	-	1	0	AKNA	116170588	0.001000	0.12720	0.002000	0.10522	0.046000	0.14306	-0.004000	0.12878	-0.275000	0.09219	-0.951000	0.02657	GAG	AKNA	-	NULL		0.667	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117130767	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.011	G	G	117130767	C	G	117130767	3	3	164	1	0	0	0	0	1	0	0	0	463	922	32	1	2866	1	AKNA	9	117130767	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3922607	117130767	24082664	368	31156										
C9orf119	375757	genome.wustl.edu	37	chr9	131038452	131038452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcgtggccagagggacctgTggcgtcacaacaaaagctgc	15	11	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:131038452T>C	ENST00000320188.5	+	1	28	c.28T>C	c.(28-30)Tgg>Cgg	p.W10R	SWI5_ENST00000608796.1_5'Flank|SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000419867.2_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|GOLGA2_ENST00000421699.2_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	10					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GAGGGACCTGTGGCGTCACAA	0.637																																																	0													41	49	46					9																	131038452		2036	4138	6174	SO:0001583	missense	375757			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 119"	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.28T>C	9.37:g.131038452T>C	ENSP00000316609:p.Trp10Arg		Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	pfam_DNA-repair_Swi5	p.W10R	ENST00000320188.5	37	c.28	CCDS43883.1	9	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131333	0.56828	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.0	-7.49	0.01355	.	.	.	.	.	T	0.20618	0.0496	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30060	-0.9991	8	0.87932	D	0	.	3.5492	0.07840	0.1219:0.4354:0.2797:0.1631	.	10	Q1ZZU3	SWI5_HUMAN	R	10	.	ENSP00000316609:W10R	W	+	1	0	SWI5	130078273	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.501000	0.02281	-1.231000	0.02557	0.455000	0.32223	TGG	SWI5	-	NULL		0.637	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SWI5	HGNC	protein_coding		T	NM_001040011		131038452	1	no_errors	ENST00000320188	ensembl	human	known	70_37	missense	SNP	0.000	C	C	131038452	T	C	131038452	3	2	164	1	0	0	0	0	1	0	0	0	2457	1696	59	5	30	5	C9orf119	9	131038452	Missense_Mutation	SNP	T	TCGA-JX-A3Q0-01A-11D-A21Q-09	13907685	131038452	10174979	369	31157										
USP20	10868	genome.wustl.edu	37	chr9	132637226	132637226	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aacgccgagggctacgtactCttctacaggtgggcgctggg	15	11	2	0	rs565548709		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:132637226C>G	ENST00000315480.4	+	19	2198	c.2040C>G	c.(2038-2040)ctC>ctG	p.L680L	USP20_ENST00000358355.1_Silent_p.L680L|USP20_ENST00000372429.3_Silent_p.L680L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	680	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCTACGTACTCTTCTACAGGT	0.612																																																	0													54	55	55					9																	132637226		2085	4193	6278	SO:0001819	synonymous_variant	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2040C>G	9.37:g.132637226C>G			Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L680	ENST00000315480.4	37	c.2040	CCDS43892.1	9																																																																																			USP20	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.612	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	C			132637226	1	no_errors	ENST00000315480	ensembl	human	known	70_37	silent	SNP	0.990	G	G	132637226	C	G	132637226	2	3	164	1	0	0	0	0	0	0	0	1	17083	900	32	1		1	USP20	9	132637226	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1598774	132637226	8576205	370	31158										
SURF4	6836	genome.wustl.edu	37	chr9	136230621	136230621	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcatcagagctgtgcccacGatgttctggacaatctgcat	9	11	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:136230621G>A	ENST00000371989.3	-	6	687	c.558C>T	c.(556-558)atC>atT	p.I186I	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Missense_Mutation_p.S124L|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	186					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CTGTGCCCACGATGTTCTGGA	0.403																																																	0													62	61	62					9																	136230621		2203	4300	6503	SO:0001819	synonymous_variant	6836				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.558C>T	9.37:g.136230621G>A			B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	pfam_Surf4	p.S124L	ENST00000371989.3	37	c.371	CCDS6968.1	9	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835344	0.32421	.	.	ENSG00000148248	ENST00000545297	.	.	.	5.44	-2.87	0.05700	.	.	.	.	.	T	0.28632	0.0709	.	.	.	0.23095	N	0.998302	B	0.02656	0.0	B	0.01281	0.0	T	0.24440	-1.0160	7	0.87932	D	0	-0.0408	6.1476	0.20294	0.3583:0.3345:0.3072:0.0	.	124	B7Z6A4	.	L	124	.	ENSP00000446061:S124L	S	-	2	0	SURF4	135220442	0.004000	0.15560	0.953000	0.39169	0.990000	0.78478	-1.101000	0.03336	-0.954000	0.03640	0.467000	0.42956	TCG	SURF4	-	NULL		0.403	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF4	HGNC	protein_coding	OTTHUMT00000054886.1	G	NM_033161		136230621	-1	no_errors	ENST00000545297	ensembl	human	known	70_37	missense	SNP	0.862	A	A	136230621	G	A	136230621	2	1	164	1	0	0	0	0	0	0	0	1	15435	1048	37	1		1	SURF4	9	136230621	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3593395	136230621	4982810	371	31159										
EHMT1	79813	genome.wustl.edu	37	chr9	140605430	140605430	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctctaacaggcagttccggcGaggggggagcctcagcagga	16	11	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:140605430G>A	ENST00000460843.1	+	2	60	c.33G>A	c.(31-33)gcG>gcA	p.A11A	EHMT1_ENST00000462484.1_Silent_p.A11A|EHMT1_ENST00000371394.2_Intron|EHMT1_ENST00000334856.6_5'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	11					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGTTCCGGCGAGGGGGGAGC	0.572																																																	0													17	19	18					9																	140605430		1566	3577	5143	SO:0001819	synonymous_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.33G>A	9.37:g.140605430G>A			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A11	ENST00000460843.1	37	c.33	CCDS7050.2	9																																																																																			EHMT1	-	NULL		0.572	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	G	NM_024757		140605430	1	no_errors	ENST00000460843	ensembl	human	known	70_37	silent	SNP	0.062	A	A	140605430	G	A	140605430	2	1	164	1	0	0	0	0	0	0	0	1	4993	1045	37	1		1	EHMT1	9	140605430	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4374809	140605430	608001	372	31160										
USP6NL	9712	genome.wustl.edu	37	chr10	11505563	11505563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggaactgtcctgtggacccGatgggagttttctttgaaaa	12	7	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:11505563G>A	ENST00000609104.1	-	15	1758	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L	USP6NL_ENST00000379237.2_Missense_Mutation_p.S478L|USP6NL_ENST00000277575.5_Missense_Mutation_p.S472L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	455					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTGTGGACCCGATGGGAGTTT	0.498																																																	0													130	129	129					10																	11505563		1927	4127	6054	SO:0001583	missense	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1364C>T	10.37:g.11505563G>A	ENSP00000476462:p.Ser455Leu		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S472L	ENST00000609104.1	37	c.1415	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402438	0.25291	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03982	3.74;3.75	5.53	3.64	0.41730	.	0.680494	0.13865	N	0.357409	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.06405	0.002;0.001	T	0.47018	-0.9149	10	0.09843	T	0.71	.	6.0388	0.19722	0.2138:0.0:0.6478:0.1384	.	455;472	Q92738;Q92738-2	US6NL_HUMAN;.	L	455;472;455	ENSP00000277575:S472L;ENSP00000368539:S455L	ENSP00000277575:S472L	S	-	2	0	USP6NL	11545569	0.017000	0.18338	0.009000	0.14445	0.152000	0.21847	1.841000	0.39240	1.467000	0.48044	0.561000	0.74099	TCG	USP6NL	-	NULL		0.498	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	G	NM_014688		11505563	-1	no_errors	ENST00000277575	ensembl	human	known	70_37	missense	SNP	0.003	A	A	11505563	G	A	11505563	3	1	164	1	0	0	0	0	1	0	0	0	17118	1059	37	1	1126	1	USP6NL	10	11505563	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		11505563	124029184	373	31161										
FAM171A1	221061	genome.wustl.edu	37	chr10	15290720	15290720	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccaggggcacagtgacataGatgggaccatccaccagcac	12	13	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:15290720G>T	ENST00000378116.4	-	5	678	c.672C>A	c.(670-672)atC>atA	p.I224I	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	224						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CAGTGACATAGATGGGACCAT	0.587																																																	0													97	86	90					10																	15290720		2203	4300	6503	SO:0001819	synonymous_variant	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.672C>A	10.37:g.15290720G>T			D3DRT9|Q32M49|Q8N4I0	Silent	SNP	pfam_Uncharacterised_FAM171	p.I224	ENST00000378116.4	37	c.672	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171		0.587	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	G	XM_167709		15290720	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	silent	SNP	0.996	T	T	15290720	G	T	15290720	2	4	164	1	0	0	0	0	0	0	0	1	5505	932	33	3		3	FAM171A1	10	15290720	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3785157	15290720	120244027	374	31162										
PDSS1	23590	genome.wustl.edu	37	chr10	27009280	27009280	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagttaataagatctggggtGaaaagaaggtatggtttttt	12	2	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:27009280G>A	ENST00000376215.5	+	6	654	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	PDSS1_ENST00000376203.5_Missense_Mutation_p.E201K|RP13-16H11.5_ENST00000458171.1_RNA	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	201					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GATCTGGGGTGAAAAGAAGGT	0.363																																																	0													107	107	107					10																	27009280		2203	4300	6503	SO:0001583	missense	23590			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.601G>A	10.37:g.27009280G>A	ENSP00000365388:p.Glu201Lys		Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.E201K	ENST00000376215.5	37	c.601	CCDS31168.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520553	0.85495	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	T;T	0.66815	-0.23;-0.23	5.59	5.59	0.84812	Terpenoid synthase (2);	0.043610	0.85682	N	0.000000	T	0.72684	0.3491	L	0.51914	1.62	0.80722	D	1	P;P	0.41313	0.745;0.647	P;P	0.48873	0.545;0.593	T	0.72161	-0.4374	10	0.52906	T	0.07	-17.678	19.9448	0.97177	0.0:0.0:1.0:0.0	.	201;201	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	K	201;201;162	ENSP00000365388:E201K;ENSP00000365376:E201K	ENSP00000365376:E201K	E	+	1	0	PDSS1	27049286	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.568000	0.98166	2.796000	0.96246	0.591000	0.81541	GAA	PDSS1	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.363	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS1	HGNC	protein_coding	OTTHUMT00000047276.1	G			27009280	1	no_errors	ENST00000376215	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27009280	G	A	27009280	3	1	164	1	0	0	0	0	1	0	0	0	11717	1291	45	1	623	1	PDSS1	10	27009280	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	11718560	27009280	108525467	375	31163										
ARMC4	55130	genome.wustl.edu	37	chr10	28233243	28233243	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcggctgccaaacattttaGactcttgtgtggagaatcaa	9	9	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:28233243G>C	ENST00000305242.5	-	12	1743	c.1651C>G	c.(1651-1653)Cta>Gta	p.L551V	ARMC4_ENST00000545014.1_Missense_Mutation_p.L76V|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Missense_Mutation_p.L243V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	551					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAACATTTTAGACTCTTGTGT	0.453																																																	0													74	69	71					10																	28233243		2203	4300	6503	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1651C>G	10.37:g.28233243G>C	ENSP00000306410:p.Leu551Val		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.L551V	ENST00000305242.5	37	c.1651	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	5.524	0.281613	0.10458	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.39997	1.05;1.05;1.05	5.34	4.44	0.53790	Armadillo-like helical (1);Armadillo-type fold (1);	0.137915	0.49916	D	0.000134	T	0.33731	0.0873	L	0.58428	1.81	0.80722	D	1	B;P	0.36577	0.209;0.558	B;B	0.32393	0.145;0.145	T	0.10019	-1.0648	10	0.12430	T	0.62	-12.9223	11.3669	0.49677	0.1466:0.0:0.8534:0.0	.	76;551	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	V	243;551;76	ENSP00000443208:L243V;ENSP00000306410:L551V;ENSP00000441076:L76V	ENSP00000306410:L551V	L	-	1	2	ARMC4	28273249	1.000000	0.71417	0.986000	0.45419	0.212000	0.24457	3.730000	0.55006	1.401000	0.46761	0.585000	0.79938	CTA	ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.453	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	G	NM_018076		28233243	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	missense	SNP	0.997	C	C	28233243	G	C	28233243	3	2	164	1	0	0	0	0	1	0	0	0	954	933	33	1	1519	1	ARMC4	10	28233243	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1223963	28233243	107301504	376	31164										
MPP7	143098	genome.wustl.edu	37	chr10	28408627	28408627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctgaaccaatatttctggtCgtctcaaagccaatctcctg	7	12	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:28408627C>T	ENST00000375732.1	-	11	1164	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	MPP7_ENST00000375719.3_Missense_Mutation_p.R302Q|MPP7_ENST00000337532.5_Missense_Mutation_p.R302Q|MPP7_ENST00000445954.2_Missense_Mutation_p.R177Q|MPP7_ENST00000540098.1_Missense_Mutation_p.R302Q			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	302					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TATTTCTGGTCGTCTCAAAGC	0.368																																																	0													108	111	110					10																	28408627		2203	4300	6503	SO:0001583	missense	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.905G>A	10.37:g.28408627C>T	ENSP00000364884:p.Arg302Gln		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_SH3_domain	p.R302Q	ENST00000375732.1	37	c.905	CCDS7158.1	10	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882535	0.51908	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	D;D;D;D;T;D	0.82526	-1.62;-1.62;-1.62;-1.62;1.51;-1.62	5.78	4.87	0.63330	Src homology-3 domain (1);	0.177277	0.46758	D	0.000263	T	0.68732	0.3033	L	0.28115	0.83	0.45528	D	0.99848	B	0.22746	0.074	B	0.17433	0.018	T	0.61123	-0.7126	10	0.10111	T	0.7	.	9.6834	0.40082	0.0:0.7956:0.0:0.2044	.	302	Q5T2T1	MPP7_HUMAN	Q	302;302;302;302;63;177	ENSP00000364884:R302Q;ENSP00000337907:R302Q;ENSP00000438693:R302Q;ENSP00000364871:R302Q;ENSP00000398319:R63Q;ENSP00000405397:R177Q	ENSP00000337907:R302Q	R	-	2	0	MPP7	28448633	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.853000	0.39358	2.742000	0.94016	0.650000	0.86243	CGA	MPP7	-	superfamily_SH3_domain		0.368	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	C	NM_173496		28408627	-1	no_errors	ENST00000337532	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28408627	C	T	28408627	3	4	164	1	0	0	0	0	1	0	0	0	9762	884	31	1	853	1	MPP7	10	28408627	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	175384	28408627	107126120	377	31165										
KIAA1462	57608	genome.wustl.edu	37	chr10	30315291	30315291	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gacactgagctcacctctttCattctcatcaggcggtcagg	9	13	6	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:30315291C>T	ENST00000375377.1	-	3	3887	c.3786G>A	c.(3784-3786)atG>atA	p.M1262I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1262					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCACCTCTTTCATTCTCATCA	0.542																																																	0													56	54	55					10																	30315291		1958	4148	6106	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3786G>A	10.37:g.30315291C>T	ENSP00000364526:p.Met1262Ile		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.M1262I	ENST00000375377.1	37	c.3786	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684101	0.88639	.	.	ENSG00000165757	ENST00000375377	T	0.20463	2.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	M	0.70275	2.135	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.49643	-0.8918	10	0.87932	D	0	-31.6339	19.2521	0.93929	0.0:1.0:0.0:0.0	.	1262	Q9P266	K1462_HUMAN	I	1262	ENSP00000364526:M1262I	ENSP00000364526:M1262I	M	-	3	0	KIAA1462	30355297	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	6.938000	0.75904	2.557000	0.86248	0.655000	0.94253	ATG	KIAA1462	-	NULL		0.542	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30315291	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30315291	C	T	30315291	3	4	164	1	0	0	0	0	1	0	0	0	8254	826	29	1	301	1	KIAA1462	10	30315291	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1906664	30315291	105219456	378	31166										
KIAA1462	57608	genome.wustl.edu	37	chr10	30316406	30316406	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccacatcctcggctgtggctCaaccctcatttccgggctgt	9	16	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:30316406C>T	ENST00000375377.1	-	3	2772	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	891					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGCTGTGGCTCAACCCTCATT	0.622																																																	0													62	68	66					10																	30316406		2112	4220	6332	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2671G>A	10.37:g.30316406C>T	ENSP00000364526:p.Glu891Lys		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.E891K	ENST00000375377.1	37	c.2671	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	8.589	0.884117	0.17467	.	.	ENSG00000165757	ENST00000375377	T	0.12255	2.7	5.26	3.4	0.38934	.	0.868989	0.10389	N	0.680624	T	0.12774	0.0310	L	0.43152	1.355	0.09310	N	1	B	0.20550	0.046	B	0.20955	0.032	T	0.33523	-0.9865	10	0.26408	T	0.33	-4.2652	8.9483	0.35773	0.0:0.7724:0.0:0.2276	.	891	Q9P266	K1462_HUMAN	K	891	ENSP00000364526:E891K	ENSP00000364526:E891K	E	-	1	0	KIAA1462	30356412	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.466000	0.06672	0.615000	0.30124	0.655000	0.94253	GAG	KIAA1462	-	NULL		0.622	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30316406	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.001	T	T	30316406	C	T	30316406	3	4	164	1	0	0	0	0	1	0	0	0	8254	835	29	1	1416	1	KIAA1462	10	30316406	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1115	30316406	105218341	379	31167										
KIAA1462	57608	genome.wustl.edu	37	chr10	30316418	30316418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgtggctcaaccctcatttCcgggctgtttccgcggaagc	11	14	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:30316418C>T	ENST00000375377.1	-	3	2760	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	887					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCCTCATTTCCGGGCTGTTT	0.617																																																	0													63	69	67					10																	30316418		2117	4232	6349	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2659G>A	10.37:g.30316418C>T	ENSP00000364526:p.Glu887Lys		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.E887K	ENST00000375377.1	37	c.2659	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962583	0.34659	.	.	ENSG00000165757	ENST00000375377	T	0.13778	2.56	5.26	4.32	0.51571	.	0.492142	0.20907	N	0.083522	T	0.21841	0.0526	L	0.46157	1.445	0.09310	N	1	D	0.53462	0.96	P	0.52217	0.693	T	0.06588	-1.0818	10	0.30078	T	0.28	-6.3512	15.4681	0.75419	0.0:0.8607:0.1393:0.0	.	887	Q9P266	K1462_HUMAN	K	887	ENSP00000364526:E887K	ENSP00000364526:E887K	E	-	1	0	KIAA1462	30356424	0.952000	0.32445	0.001000	0.08648	0.002000	0.02628	3.855000	0.55957	1.164000	0.42652	0.655000	0.94253	GAA	KIAA1462	-	NULL		0.617	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30316418	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.006	T	T	30316418	C	T	30316418	3	4	164	1	0	0	0	0	1	0	0	0	8254	864	30	1	1428	1	KIAA1462	10	30316418	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	12	30316418	105218329	380	31168										
NCOA4	8031	genome.wustl.edu	37	chr10	51585289	51585289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctgaatatgtggctctgtcCtagaaaagaagtaatagaac	9	7	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:51585289C>T	ENST00000443446.1	+	8	1617	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	NCOA4_ENST00000344348.6_Missense_Mutation_p.P463L|NCOA4_ENST00000414907.2_Missense_Mutation_p.P297L|NCOA4_ENST00000374082.1_Missense_Mutation_p.P463L|NCOA4_ENST00000452682.1_Missense_Mutation_p.P479L|NCOA4_ENST00000430396.2_Missense_Mutation_p.P363L|NCOA4_ENST00000438493.1_Missense_Mutation_p.P479L|NCOA4_ENST00000374087.4_Missense_Mutation_p.P463L	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	463					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGGCTCTGTCCTAGAAAAGAA	0.428			T	RET	papillary thyroid																																			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													124	137	133					10																	51585289		2203	4300	6503	SO:0001583	missense	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1388C>T	10.37:g.51585289C>T	ENSP00000390713:p.Pro463Leu		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	pfam_ARA70	p.P479L	ENST00000443446.1	37	c.1436	CCDS7237.1	10	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389103	0.61956	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.6	5.6	0.85130	.	0.053283	0.85682	D	0.000000	T	0.43456	0.1248	M	0.66939	2.045	0.40622	D	0.981771	D;P;D;B	0.56035	0.974;0.954;0.974;0.307	P;P;P;B	0.50860	0.652;0.476;0.476;0.097	T	0.33727	-0.9857	9	.	.	.	-8.194	15.1301	0.72517	0.0:0.8591:0.1409:0.0	.	363;479;479;463	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	L	479;479;363;463;297;463;463;463	ENSP00000405146:P479L;ENSP00000395465:P479L;ENSP00000393053:P363L;ENSP00000363200:P463L;ENSP00000411018:P297L;ENSP00000344552:P463L;ENSP00000363195:P463L;ENSP00000390713:P463L	.	P	+	2	0	NCOA4	51255295	0.704000	0.27836	1.000000	0.80357	0.799000	0.45148	1.849000	0.39318	2.647000	0.89833	0.650000	0.86243	CCT	NCOA4	-	NULL		0.428	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA4	HGNC	protein_coding	OTTHUMT00000048052.1	C	NM_005437		51585289	1	no_errors	ENST00000452682	ensembl	human	known	70_37	missense	SNP	0.847	T	T	51585289	C	T	51585289	3	4	164	1	0	0	0	0	1	0	0	0	10255	681	24	4	1466	4	NCOA4	10	51585289	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	21268871	51585289	83949458	381	31169										
MYPN	84665	genome.wustl.edu	37	chr10	69970178	69970178	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacgatggtgtattcatgctCttctcggagtgtagtggaga	13	7	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:69970178C>G	ENST00000358913.5	+	20	4417	c.3929C>G	c.(3928-3930)tCt>tGt	p.S1310C	MYPN_ENST00000540630.1_Missense_Mutation_p.S1310C|MYPN_ENST00000354393.2_Missense_Mutation_p.S1035C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1310	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TATTCATGCTCTTCTCGGAGT	0.493																																																	0													194	169	177					10																	69970178		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3929C>G	10.37:g.69970178C>G	ENSP00000351790:p.Ser1310Cys		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S1310C	ENST00000358913.5	37	c.3929	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320888	0.60634	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59502	0.26;0.34;0.32	6.16	6.16	0.99307	.	0.221058	0.39909	N	0.001234	T	0.56891	0.2016	L	0.29908	0.895	0.40658	D	0.982106	D;D;P	0.53885	0.963;0.963;0.771	P;P;B	0.49752	0.621;0.621;0.302	T	0.51679	-0.8675	9	.	.	.	.	19.0404	0.92997	0.0:1.0:0.0:0.0	.	1310;1035;1310	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	1035;1035;1310;1310	ENSP00000346369:S1035C;ENSP00000351790:S1310C;ENSP00000441668:S1310C	.	S	+	2	0	MYPN	69640184	1.000000	0.71417	0.995000	0.50966	0.588000	0.36517	6.918000	0.75788	2.937000	0.99478	0.650000	0.86243	TCT	MYPN	-	NULL		0.493	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	C	NM_032578		69970178	1	no_errors	ENST00000358913	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69970178	C	G	69970178	3	3	164	1	0	0	0	0	1	0	0	0	10121	913	32	1	4003	1	MYPN	10	69970178	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	18384889	69970178	65564569	382	31170										
SUPV3L1	6832	genome.wustl.edu	37	chr10	70945777	70945777	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtcttagacaaattttacaaGaggaaagaaattcagaaact	7	5	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:70945777G>A	ENST00000359655.4	+	2	366	c.306G>A	c.(304-306)aaG>aaA	p.K102K	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	102					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATTTTACAAGAGGAAAGAAA	0.343																																																	0													126	136	133					10																	70945777		2203	4300	6503	SO:0001819	synonymous_variant	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.306G>A	10.37:g.70945777G>A			A8K301|O43630	Silent	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.K102	ENST00000359655.4	37	c.306	CCDS7287.1	10																																																																																			SUPV3L1	-	NULL		0.343	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	G	NM_003171		70945777	1	no_errors	ENST00000359655	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70945777	G	A	70945777	2	1	164	1	0	0	0	0	0	0	0	1	15432	933	33	1		1	SUPV3L1	10	70945777	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	975599	70945777	64588970	383	31171										
TACR2	6865	genome.wustl.edu	37	chr10	71168822	71168822	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tagatgagggcgatcaccacGaggtggtacctgcagggaga	16	8	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:71168822G>A	ENST00000373306.4	-	3	1140	c.597C>T	c.(595-597)ctC>ctT	p.L199L	TACR2_ENST00000373307.1_5'UTR	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	199					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)	p.L199L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						CGATCACCACGAGGTGGTACC	0.687																																																	1	Substitution - coding silent(1)	lung(1)											39	36	37					10																	71168822		2203	4299	6502	SO:0001819	synonymous_variant	6865				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"GPCR / Class A : Tachykinin receptors"	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.597C>T	10.37:g.71168822G>A			A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L199	ENST00000373306.4	37	c.597	CCDS7293.1	10																																																																																			TACR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn		0.687	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR2	HGNC	protein_coding	OTTHUMT00000048411.1	G			71168822	-1	no_errors	ENST00000373306	ensembl	human	known	70_37	silent	SNP	0.006	A	A	71168822	G	A	71168822	2	1	164	1	0	0	0	0	0	0	0	1	15536	1045	37	1		1	TACR2	10	71168822	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	223045	71168822	64365925	384	31172										
COL13A1	1305	genome.wustl.edu	37	chr10	71582155	71582155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tccactcaaggaggcgccggGaggccccaaagacatctcca	11	15	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:71582155G>A	ENST00000398978.3	+	2	817	c.325G>A	c.(325-327)Gag>Aag	p.E109K	COL13A1_ENST00000522165.1_Missense_Mutation_p.E109K|COL13A1_ENST00000398974.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398973.3_Missense_Mutation_p.E109K|COL13A1_ENST00000356340.3_Missense_Mutation_p.E109K|COL13A1_ENST00000520267.1_Missense_Mutation_p.E109K|COL13A1_ENST00000398964.3_Missense_Mutation_p.E109K|COL13A1_ENST00000517713.1_Missense_Mutation_p.E109K|COL13A1_ENST00000520133.1_Missense_Mutation_p.E109K|COL13A1_ENST00000398971.3_Missense_Mutation_p.E109K|COL13A1_ENST00000357811.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398968.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398966.3_Missense_Mutation_p.E109K|COL13A1_ENST00000354547.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398972.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398969.3_Missense_Mutation_p.E109K	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GAGGCGCCGGGAGGCCCCAAA	0.562																																																	0													28	30	30					10																	71582155		1906	4133	6039	SO:0001583	missense	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.325G>A	10.37:g.71582155G>A	ENSP00000381949:p.Glu109Lys			Missense_Mutation	SNP	pfam_Collagen	p.E109K	ENST00000398978.3	37	c.325	CCDS44419.1	10	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781784	0.70222	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92495	-2.98;-2.76;-2.85;-2.87;-3.05;-2.83;-2.9;-2.72;-2.79;-2.84;-2.82;-2.82;-2.79;-2.7;-2.76;-2.74	5.56	5.56	0.83823	.	0.000000	0.43919	D	0.000514	D	0.92021	0.7472	N	0.25789	0.76	0.33514	D	0.591525	B;D;B;B;B;B;B;B;B;B;B;B;D;B;B;B;B;B	0.61697	0.247;0.99;0.361;0.247;0.247;0.247;0.247;0.247;0.247;0.415;0.361;0.361;0.986;0.361;0.361;0.361;0.247;0.361	B;D;B;B;B;B;B;B;B;B;B;B;D;B;B;B;B;B	0.72982	0.057;0.979;0.121;0.057;0.057;0.057;0.057;0.057;0.057;0.285;0.121;0.121;0.968;0.121;0.121;0.121;0.057;0.121	D	0.90122	0.4200	10	0.13853	T	0.58	-9.4551	15.0251	0.71663	0.0:0.0:1.0:0.0	.	109;109;109;109;109;109;109;109;109;109;109;109;109;109;109;109;109;109	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	109	ENSP00000381946:E109K;ENSP00000381943:E109K;ENSP00000381940:E109K;ENSP00000381938:E109K;ENSP00000381936:E109K;ENSP00000381941:E109K;ENSP00000348695:E109K;ENSP00000381944:E109K;ENSP00000381945:E109K;ENSP00000381949:E109K;ENSP00000346553:E109K;ENSP00000350463:E109K;ENSP00000428057:E109K;ENSP00000430061:E109K;ENSP00000428342:E109K;ENSP00000430173:E109K	ENSP00000346553:E109K	E	+	1	0	COL13A1	71252161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.701000	0.61810	2.623000	0.88846	0.561000	0.74099	GAG	COL13A1	-	NULL		0.562	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	G	NM_005203		71582155	1	no_errors	ENST00000356340	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71582155	G	A	71582155	3	1	164	1	0	0	0	0	1	0	0	0	3675	1175	41	1	331	1	COL13A1	10	71582155	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	413333	71582155	63952592	385	31173										
KIAA0913	23053	genome.wustl.edu	37	chr10	75545731	75545731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcactctgttccttcatctCcgaggccgagagcctctgcc	8	16	5	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:75545731C>T	ENST00000605216.1	+	1	312	c.95C>T	c.(94-96)tCc>tTc	p.S32F	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S32F|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S32F|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S32F|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S32F	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	32							zinc ion binding (GO:0008270)										TCCTTCATCTCCGAGGCCGAG	0.627																																																	0													27	36	33					10																	75545731		2009	4155	6164	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.95C>T	10.37:g.75545731C>T	ENSP00000474748:p.Ser32Phe		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.S32F	ENST00000605216.1	37	c.95		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.670914|4.670914	0.88348|0.88348	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000446546|ENST00000398706	.|T	.|0.54675	.|0.56	4.62|4.62	3.71|3.71	0.42584|0.42584	.|.	.|.	.|.	.|.	.|.	T|T	0.64148|0.64148	0.2572|0.2572	M|M	0.75264|0.75264	2.295|2.295	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.62365	.|0.982;0.991;0.982	.|P;P;P	.|0.53266	.|0.722;0.722;0.722	T|T	0.70930|0.70930	-0.4738|-0.4738	5|9	.|0.87932	.|D	.|0	.|.	14.0652|14.0652	0.64824|0.64824	0.152:0.848:0.0:0.0|0.152:0.848:0.0:0.0	.|.	.|32;32;32	.|A7E2V4;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.	S|F	117|32	.|ENSP00000381693:S32F	.|ENSP00000381693:S32F	P|S	+|+	1|2	0|0	KIAA0913|KIAA0913	75215737|75215737	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.994000|0.994000	0.84299|0.84299	7.107000|7.107000	0.77047|0.77047	1.145000|1.145000	0.42336|0.42336	0.555000|0.555000	0.69702|0.69702	CCG|TCC	ZSWIM8	-	NULL		0.627	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	C	NM_001242487		75545731	1	no_errors	ENST00000398706	ensembl	human	known	70_37	missense	SNP	0.998	T	T	75545731	C	T	75545731	3	4	164	1	0	0	0	0	1	0	0	0	8220	855	30	1	97	1	KIAA0913	10	75545731	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3963576	75545731	59989016	386	31174										
C10orf11	83938	genome.wustl.edu	37	chr10	77795880	77795880	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agactgcataccttaaccctCaacaagaaccgaatatcctt	4	13	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:77795880C>T	ENST00000372499.1	+	2	377	c.162C>T	c.(160-162)ctC>ctT	p.L54L	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	54					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CCTTAACCCTCAACAAGAACC	0.567											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													163	138	146					10																	77795880		2203	4300	6503	SO:0001819	synonymous_variant	83938			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"oculocutaneous albinism 7, autosomal recessive"	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.162C>T	10.37:g.77795880C>T		1178	B1AVW6	Silent	SNP	NULL	p.L54	ENST00000372499.1	37	c.162	CCDS7351.1	10																																																																																			C10orf11	-	NULL		0.567	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf11	HGNC	protein_coding	OTTHUMT00000048839.1	C	NM_032024		77795880	1	no_errors	ENST00000372499	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77795880	C	T	77795880	2	4	164	1	0	0	0	0	0	0	0	1	1586	813	29	1		1	C10orf11	10	77795880	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2250149	77795880	57738867	387	31175										
LRIT2	340745	genome.wustl.edu	37	chr10	85984450	85984450	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcaggctgccggcatttctgGtaggctggccagttcaggaa	14	10	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:85984450G>T	ENST00000372113.4	-	2	536	c.531C>A	c.(529-531)taC>taA	p.Y177*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.Y177*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	177						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGCATTTCTGGTAGGCTGGCC	0.557																																																	0													61	57	58					10																	85984450		2203	4300	6503	SO:0001587	stop_gained	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.531C>A	10.37:g.85984450G>T	ENSP00000361185:p.Tyr177*		B7ZME6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y177*	ENST00000372113.4	37	c.531	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509678	0.44660	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	.	.	.	5.82	0.85	0.18980	.	0.057079	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1784	0.37127	0.377:0.0:0.623:0.0	.	.	.	.	X	177	.	ENSP00000361185:Y177X	Y	-	3	2	LRIT2	85974430	1.000000	0.71417	0.726000	0.30738	0.115000	0.19883	1.081000	0.30791	0.106000	0.17784	-0.136000	0.14681	TAC	LRIT2	-	NULL		0.557	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	G	XM_291697		85984450	-1	no_errors	ENST00000538192	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	85984450	G	T	85984450	4	4	164	1	0	0	0	0	0	1	0	0	8971	1256	44	4	1129	4	LRIT2	10	85984450	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8188570	85984450	49550297	388	31176										
GRID1	2894	genome.wustl.edu	37	chr10	87898609	87898609	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagtgggctccctgtgggctGagcagcaggatggcgcggcg	20	10	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:87898609G>A	ENST00000327946.7	-	4	778	c.693C>T	c.(691-693)ctC>ctT	p.L231L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	231					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCTGTGGGCTGAGCAGCAGGA	0.602										Multiple Myeloma(13;0.14)																																							0													127	112	117					10																	87898609		2203	4300	6503	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.693C>T	10.37:g.87898609G>A			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L231	ENST00000327946.7	37	c.693	CCDS31236.1	10																																																																																			GRID1	-	pfam_ANF_lig-bd_rcpt		0.602	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	G	XM_043613		87898609	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	silent	SNP	0.928	A	A	87898609	G	A	87898609	2	1	164	1	0	0	0	0	0	0	0	1	6791	1277	45	1		1	GRID1	10	87898609	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1914159	87898609	47636138	389	31177										
MARCH5	54708	genome.wustl.edu	37	chr10	94070946	94070946	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gatagaacagctgaatgggtGagaccatgcaggtgcagagg	16	6	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:94070946G>A	ENST00000358935.2	+	2	422	c.90G>A	c.(88-90)gtG>gtA	p.V30V	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	30					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CTGAATGGGTGAGACCATGCA	0.433																																																	0													112	103	106					10																	94070946		2203	4300	6503	SO:0001819	synonymous_variant	54708			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.90G>A	10.37:g.94070946G>A				Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.V30	ENST00000358935.2	37	c.90	CCDS7420.1	10																																																																																			MARCH5	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH		0.433	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH5	HGNC	protein_coding	OTTHUMT00000049388.1	G	NM_017824		94070946	1	no_errors	ENST00000358935	ensembl	human	known	70_37	silent	SNP	1.000	A	A	94070946	G	A	94070946	2	1	164	1	0	0	0	0	0	0	0	1	9327	1277	45	1		1	MARCH5	10	94070946	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6172337	94070946	41463801	390	31178										
KIF11	3832	genome.wustl.edu	37	chr10	94368777	94368777	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agtccttattataatttcagGatcccttggctggtataatt	7	7	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:94368777G>C	ENST00000260731.3	+	5	478	c.388G>C	c.(388-390)Gat>Cat	p.D130H		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	130	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATAATTTCAGGATCCCTTGGC	0.333																																					Colon(47;212 1003 2764 4062 8431)												0													41	44	43					10																	94368777		2201	4299	6500	SO:0001630	splice_region_variant	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.388-1G>C	10.37:g.94368777G>C			A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D130H	ENST00000260731.3	37	c.388	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629011	0.87560	.	.	ENSG00000138160	ENST00000260731	T	0.75704	-0.96	5.54	5.54	0.83059	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84648	0.0699	9	.	.	.	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	130	P52732	KIF11_HUMAN	H	130	ENSP00000260731:D130H	.	D	+	1	0	KIF11	94358757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.401000	0.97294	2.880000	0.98712	0.650000	0.86243	GAT	KIF11	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.333	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	G	NM_004523	Missense_Mutation	94368777	1	no_errors	ENST00000260731	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94368777	G	C	94368777	5	2	164	1	0	0	0	0	0	0	1	0	8292	1188	41	1	406	1	KIF11	10	94368777	Splice_Site	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	297831	94368777	41165970	391	31179										
CYP2C18	1562	genome.wustl.edu	37	chr10	96443712	96443712	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttggaaatatcctgcagttaGatgttaaggacatgagcaaa	10	5	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:96443712G>A	ENST00000285979.6	+	1	335	c.136G>A	c.(136-138)Gat>Aat	p.D46N	CYP2C18_ENST00000339022.5_Missense_Mutation_p.D46N	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	46					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CCTGCAGTTAGATGTTAAGGA	0.428																																																	0													68	63	64					10																	96443712		2203	4300	6503	SO:0001583	missense	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.136G>A	10.37:g.96443712G>A	ENSP00000285979:p.Asp46Asn		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.D46N	ENST00000285979.6	37	c.136	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296295	0.23650	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.68479	-0.33;-0.33	4.17	1.19	0.21007	.	0.417764	0.25490	N	0.030319	T	0.42314	0.1197	N	0.25060	0.705	0.09310	N	1	B;B	0.20988	0.05;0.006	B;B	0.24269	0.052;0.011	T	0.17319	-1.0373	10	0.10636	T	0.68	.	3.5563	0.07865	0.2964:0.0:0.5286:0.175	.	46;46	Q4VAT5;P33260	.;CP2CI_HUMAN	N	46	ENSP00000341293:D46N;ENSP00000285979:D46N	ENSP00000285979:D46N	D	+	1	0	CYP2C18	96433702	0.050000	0.20438	0.033000	0.17914	0.855000	0.48748	0.274000	0.18680	0.013000	0.14918	0.455000	0.32223	GAT	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.428	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	G	NM_000772		96443712	1	no_errors	ENST00000285979	ensembl	human	known	70_37	missense	SNP	0.058	A	A	96443712	G	A	96443712	3	1	164	1	0	0	0	0	1	0	0	0	4170	942	33	1	138	1	CYP2C18	10	96443712	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2074935	96443712	39091035	392	31180										
TAF5	6877	genome.wustl.edu	37	chr10	105139503	105139503	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gatccaaaagcaaaaaacaaGatcccaatgctccacctcag	5	13	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:105139503G>T	ENST00000369839.3	+	4	1275	c.1252G>T	c.(1252-1254)Gat>Tat	p.D418Y	TAF5_ENST00000351396.4_Missense_Mutation_p.D418Y	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	418					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CAAAAAACAAGATCCCAATGC	0.368																																																	0													73	65	67					10																	105139503		2203	4300	6503	SO:0001583	missense	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1252G>T	10.37:g.105139503G>T	ENSP00000358854:p.Asp418Tyr		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D418Y	ENST00000369839.3	37	c.1252	CCDS7547.1	10	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608777	0.87258	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.60672	0.46;0.17	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79408	-0.1816	10	0.87932	D	0	-17.1101	19.6899	0.95996	0.0:0.0:1.0:0.0	.	418;418	Q15542-2;Q15542	.;TAF5_HUMAN	Y	418	ENSP00000358854:D418Y;ENSP00000311024:D418Y	ENSP00000311024:D418Y	D	+	1	0	TAF5	105129493	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.645000	0.89757	0.655000	0.94253	GAT	TAF5	-	NULL		0.368	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	G			105139503	1	no_errors	ENST00000369839	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105139503	G	T	105139503	3	4	164	1	0	0	0	0	1	0	0	0	15558	942	33	3	1266	3	TAF5	10	105139503	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8695791	105139503	30395244	393	31181										
COL17A1	1308	genome.wustl.edu	37	chr10	105793763	105793763	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atccagatctccagcaaagtCagctcccaatagtccgccat	6	15	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:105793763C>G	ENST00000353479.5	-	52	4386	c.4096G>C	c.(4096-4098)Gac>Cac	p.D1366H	COL17A1_ENST00000369733.3_Missense_Mutation_p.D1284H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1366	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCAGCAAAGTCAGCTCCCAAT	0.582																																																	0													111	107	109					10																	105793763		2203	4300	6503	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4096G>C	10.37:g.105793763C>G	ENSP00000340937:p.Asp1366His		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.D1366H	ENST00000353479.5	37	c.4096	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	6.110	0.388504	0.11581	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91180	-2.8;-2.77	4.87	1.89	0.25635	.	0.435447	0.19230	N	0.119435	T	0.79811	0.4510	N	0.14661	0.345	0.27550	N	0.950512	P	0.38642	0.641	B	0.38500	0.275	T	0.72808	-0.4181	10	0.87932	D	0	-1.4997	4.1945	0.10437	0.1999:0.527:0.0:0.2731	.	1366	Q9UMD9	COHA1_HUMAN	H	1366;1284	ENSP00000340937:D1366H;ENSP00000358748:D1284H	ENSP00000340937:D1366H	D	-	1	0	COL17A1	105783753	0.785000	0.28726	0.139000	0.22197	0.120000	0.20174	1.441000	0.35035	0.089000	0.17243	0.561000	0.74099	GAC	COL17A1	-	NULL		0.582	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494		105793763	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	missense	SNP	0.267	G	G	105793763	C	G	105793763	3	3	164	1	0	0	0	0	1	0	0	0	3679	826	29	1	417	1	COL17A1	10	105793763	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	654260	105793763	29740984	394	31182										
MXI1	4601	genome.wustl.edu	37	chr10	111967748	111967748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttcaacaccagcgagaactCgatggagaagcacatcaaca	8	11	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:111967748C>T	ENST00000332674.5	+	1	386	c.182C>T	c.(181-183)tCg>tTg	p.S61L	MXI1_ENST00000361248.4_5'Flank|RP11-549L6.3_ENST00000451656.1_RNA	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	74				S -> T (in Ref. 1; AAA75508). {ECO:0000305}.	cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGCGAGAACTCGATGGAGAAG	0.597																																																	0													40	39	39					10																	111967748		2203	4300	6503	SO:0001583	missense	4601			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7534	protein-coding gene	gene with protein product		600020	"MAX interacting protein 1", "MAX interactor 1"			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000332674.5:c.182C>T	10.37:g.111967748C>T	ENSP00000331152:p.Ser61Leu		B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S61L	ENST00000332674.5	37	c.182	CCDS7563.1	10	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051726	0.55218	.	.	ENSG00000119950	ENST00000332674;ENST00000453116	T;T	0.48201	0.82;0.84	4.86	3.95	0.45737	.	0.456144	0.21006	N	0.081779	T	0.29288	0.0729	N	0.19112	0.55	0.80722	D	1	B	0.33022	0.394	B	0.22880	0.042	T	0.14504	-1.0470	10	0.87932	D	0	-9.8944	9.9816	0.41817	0.0:0.9031:0.0:0.0969	.	61	P50539-3	.	L	61	ENSP00000331152:S61L;ENSP00000398981:S61L	ENSP00000331152:S61L	S	+	2	0	MXI1	111957738	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.943000	0.56621	1.033000	0.39918	0.448000	0.29417	TCG	MXI1	-	NULL		0.597	MXI1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050314.1	C	NM_130439		111967748	1	no_errors	ENST00000332674	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111967748	C	T	111967748	3	4	164	1	0	0	0	0	1	0	0	0	10025	893	31	1	184	1	MXI1	10	111967748	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	6173985	111967748	23566999	395	31183										
TRUB1	142940	genome.wustl.edu	37	chr10	116698257	116698257	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caagcccaaagggcccacttCagccgagctgctgaatcggt	11	14	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:116698257C>T	ENST00000298746.3	+	1	306	c.245C>T	c.(244-246)tCa>tTa	p.S82L	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	82					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GGGCCCACTTCAGCCGAGCTG	0.637																																																	0													12	13	12					10																	116698257		2201	4291	6492	SO:0001583	missense	142940			AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"TruB pseudouridine (psi) synthase homolog 1 (E. coli)"			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.245C>T	10.37:g.116698257C>T	ENSP00000298746:p.Ser82Leu		B2R716|Q53ES2	Missense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB	p.S82L	ENST00000298746.3	37	c.245	CCDS7591.1	10	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011210	0.93346	.	.	ENSG00000165832	ENST00000298746	T	0.22336	1.96	6.17	5.26	0.73747	Pseudouridine synthase, catalytic domain (1);	0.064498	0.64402	D	0.000005	T	0.43853	0.1266	M	0.63843	1.955	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	T	0.40403	-0.9565	10	0.87932	D	0	-11.7998	14.0986	0.65039	0.1509:0.8491:0.0:0.0	.	82	Q8WWH5	TRUB1_HUMAN	L	82	ENSP00000298746:S82L	ENSP00000298746:S82L	S	+	2	0	TRUB1	116688247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.859000	0.62954	1.590000	0.49995	0.655000	0.94253	TCA	TRUB1	-	superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB		0.637	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB1	HGNC	protein_coding	OTTHUMT00000050504.1	C	NM_139169		116698257	1	no_errors	ENST00000298746	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116698257	C	T	116698257	3	4	164	1	0	0	0	0	1	0	0	0	16633	838	29	1	247	1	TRUB1	10	116698257	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4730509	116698257	18836490	396	31184										
ATRNL1	26033	genome.wustl.edu	37	chr10	117059712	117059712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggcaggcttaaaagctaatCcttgtacatctatggcaaat	8	8	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:117059712C>T	ENST00000355044.3	+	16	2710	c.2584C>T	c.(2584-2586)Cct>Tct	p.P862S	ATRNL1_ENST00000423111.2_5'Flank|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	862	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAAAGCTAATCCTTGTACATC	0.423																																																	0													80	79	79					10																	117059712		2203	4300	6503	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2584C>T	10.37:g.117059712C>T	ENSP00000347152:p.Pro862Ser		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.P862S	ENST00000355044.3	37	c.2584	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067755	0.55539	.	.	ENSG00000107518	ENST00000355044	T	0.17370	2.28	5.45	5.45	0.79879	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01956	-1.1240	10	0.12430	T	0.62	-13.0213	19.653	0.95825	0.0:1.0:0.0:0.0	.	862	Q5VV63	ATRN1_HUMAN	S	862	ENSP00000347152:P862S	ENSP00000347152:P862S	P	+	1	0	ATRNL1	117049702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.730000	0.84881	2.721000	0.93114	0.585000	0.79938	CCT	ATRNL1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.423	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	C	XM_049349		117059712	1	no_errors	ENST00000355044	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117059712	C	T	117059712	3	4	164	1	0	0	0	0	1	0	0	0	1208	855	30	1	2646	1	ATRNL1	10	117059712	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	361455	117059712	18475035	397	31185										
HSPA12A	259217	genome.wustl.edu	37	chr10	118434523	118434523	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcagagctgtagatgttgatGacaatgaccagctgggaggg	15	6	1	5	rs367596673	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:118434523G>T	ENST00000369209.3	-	12	1901	c.1797C>A	c.(1795-1797)gtC>gtA	p.V599V	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	599						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.V1220V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGATGTTGATGACAATGACCA	0.572																																																	1	Substitution - coding silent(1)	large_intestine(1)											84	89	88					10																	118434523		2095	4212	6307	SO:0001819	synonymous_variant	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1797C>A	10.37:g.118434523G>T				Silent	SNP	NULL	p.V599	ENST00000369209.3	37	c.1797	CCDS41569.1	10																																																																																			HSPA12A	-	NULL		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	G	NM_025015		118434523	-1	no_errors	ENST00000369209	ensembl	human	known	70_37	silent	SNP	1.000	T	T	118434523	G	T	118434523	2	4	164	1	0	0	0	0	0	0	0	1	7424	1277	45	3		3	HSPA12A	10	118434523	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1374811	118434523	17100224	398	31186										
HSPA12A	259217	genome.wustl.edu	37	chr10	118434551	118434551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccagctgggagggcttggccGgggtgtagctacgcttgacc	17	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:118434551G>A	ENST00000369209.3	-	12	1873	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	590						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGCTTGGCCGGGGTGTAGCT	0.572																																																	0													70	76	74					10																	118434551		2080	4208	6288	SO:0001583	missense	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1769C>T	10.37:g.118434551G>A	ENSP00000358211:p.Pro590Leu			Missense_Mutation	SNP	NULL	p.P590L	ENST00000369209.3	37	c.1769	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430235	0.62844	.	.	ENSG00000165868	ENST00000369209	T	0.54675	0.56	5.93	5.02	0.67125	.	0.049194	0.85682	D	0.000000	T	0.73768	0.3629	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	P	0.60012	0.867	T	0.80207	-0.1478	10	0.72032	D	0.01	.	16.5733	0.84630	0.0:0.0:0.8686:0.1314	.	590	O43301	HS12A_HUMAN	L	590	ENSP00000358211:P590L	ENSP00000358211:P590L	P	-	2	0	HSPA12A	118424541	1.000000	0.71417	0.982000	0.44146	0.930000	0.56654	7.652000	0.83633	1.504000	0.48704	0.655000	0.94253	CCG	HSPA12A	-	NULL		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	G	NM_025015		118434551	-1	no_errors	ENST00000369209	ensembl	human	known	70_37	missense	SNP	0.996	A	A	118434551	G	A	118434551	3	1	164	1	0	0	0	0	1	0	0	0	7424	1116	39	2	262	2	HSPA12A	10	118434551	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	28	118434551	17100196	399	31187										
TACC2	10579	genome.wustl.edu	37	chr10	123969978	123969978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcggtggaaggaagtccctTccgtcccccgtcacactcct	9	17	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:123969978T>C	ENST00000369005.1	+	9	6378	c.6038T>C	c.(6037-6039)tTc>tCc	p.F2013S	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.F91S|TACC2_ENST00000453444.2_Missense_Mutation_p.F2017S|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000360561.3_Missense_Mutation_p.F91S|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.F159S|TACC2_ENST00000515273.1_Missense_Mutation_p.F2017S|TACC2_ENST00000368999.1_Missense_Mutation_p.F91S|TACC2_ENST00000515603.1_Missense_Mutation_p.F1968S|TACC2_ENST00000369004.3_Missense_Mutation_p.F91S|TACC2_ENST00000334433.3_Missense_Mutation_p.F2013S|TACC2_ENST00000513429.1_Missense_Mutation_p.F159S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2013	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAAGTCCCTTCCGTCCCCCG	0.542																																																	0													142	115	124					10																	123969978		2203	4300	6503	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6038T>C	10.37:g.123969978T>C	ENSP00000358001:p.Phe2013Ser		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.F2013S	ENST00000369005.1	37	c.6038	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799233	0.50208	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.08282	3.96;3.59;4.04;4.02;3.96;3.59;4.04;3.46;3.51;3.5;3.51;3.11	5.64	4.49	0.54785	.	0.000000	0.38605	N	0.001640	T	0.20007	0.0481	M	0.65975	2.015	0.37708	D	0.924486	P;D;P;D;D;P;P;P;D	0.59767	0.818;0.972;0.594;0.986;0.972;0.9;0.9;0.9;0.973	B;P;B;P;P;P;P;P;P	0.58780	0.407;0.738;0.231;0.845;0.738;0.576;0.576;0.576;0.845	T	0.10965	-1.0607	10	0.20519	T	0.43	-4.9327	12.9212	0.58232	0.0:0.0:0.1356:0.8644	.	108;2017;91;1968;2017;91;91;159;2013	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	S	2013;159;2017;1968;2013;159;2017;2003;91;91;91;91;108	ENSP00000358001:F2013S;ENSP00000425062:F159S;ENSP00000424467:F2017S;ENSP00000427618:F1968S;ENSP00000334280:F2013S;ENSP00000350701:F159S;ENSP00000395048:F2017S;ENSP00000353763:F91S;ENSP00000357995:F91S;ENSP00000422815:F91S;ENSP00000260733:F91S;ENSP00000420967:F108S	ENSP00000260733:F91S	F	+	2	0	TACC2	123959968	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	3.217000	0.51184	0.948000	0.37687	0.533000	0.62120	TTC	TACC2	-	NULL		0.542	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	T			123969978	1	no_errors	ENST00000334433	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123969978	T	C	123969978	3	2	164	1	0	0	0	0	1	0	0	0	15532	1783	62	5	6140	5	TACC2	10	123969978	Missense_Mutation	SNP	T	TCGA-JX-A3Q0-01A-11D-A21Q-09	5535427	123969978	11564769	400	31188										
ZRANB1	54764	genome.wustl.edu	37	chr10	126673446	126673446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcagaagagttctcggcggcGaaatcaccccctggtcactc	11	14	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:126673446G>A	ENST00000359653.4	+	9	2383	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	671					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TCTCGGCGGCGAAATCACCCC	0.547																																																	0													73	66	69					10																	126673446		2203	4300	6503	SO:0001583	missense	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.2012G>A	10.37:g.126673446G>A	ENSP00000352676:p.Arg671Gln		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.R671Q	ENST00000359653.4	37	c.2012	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277892	0.80692	.	.	ENSG00000019995	ENST00000359653	T	0.18174	2.23	5.27	5.27	0.74061	.	0.056759	0.64402	D	0.000001	T	0.16685	0.0401	L	0.44542	1.39	0.80722	D	1	D	0.57257	0.979	B	0.37346	0.247	T	0.02417	-1.1162	10	0.51188	T	0.08	-20.7387	19.0693	0.93126	0.0:0.0:1.0:0.0	.	671	Q9UGI0	ZRAN1_HUMAN	Q	671	ENSP00000352676:R671Q	ENSP00000352676:R671Q	R	+	2	0	ZRANB1	126663436	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	9.259000	0.95561	2.733000	0.93635	0.650000	0.86243	CGA	ZRANB1	-	NULL		0.547	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	G	NM_017580		126673446	1	no_errors	ENST00000359653	ensembl	human	known	70_37	missense	SNP	1.000	A	A	126673446	G	A	126673446	3	1	164	1	0	0	0	0	1	0	0	0	18252	1058	37	1	2046	1	ZRANB1	10	126673446	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2703468	126673446	8861301	401	31189										
LRDD	79751	genome.wustl.edu	37	chr11	799341	799341	+	5'Flank	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctctgggggctgtggagccGaggagccaggcagagcgggg	22	9	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:799341G>C	ENST00000320230.5	-	0	0				PIDD_ENST00000411829.2_Missense_Mutation_p.S883W|PIDD_ENST00000347755.5_Missense_Mutation_p.S900W|SLC25A22_ENST00000531214.1_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGAGCCGAGGAGCCAGG	0.662																																					Colon(93;848 1468 3270 23355 49636)												0													35	39	37					11																	799341		2199	4296	6495	SO:0001631	upstream_gene_variant	55367			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799341G>C	Exception_encountered		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5	p.S900W	ENST00000320230.5	37	c.2699	CCDS7715.1	11	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772526	0.31411	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.46819	0.94;0.86	4.72	2.75	0.32379	.	1.157660	0.06720	N	0.774621	T	0.41396	0.1157	N	0.24115	0.695	0.09310	N	0.999998	D;D;D	0.58970	0.973;0.972;0.984	B;P;P	0.48815	0.387;0.591;0.591	T	0.29941	-0.9995	10	0.66056	D	0.02	.	6.6339	0.22872	0.101:0.1795:0.7195:0.0	.	900;743;883	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	W	883;900	ENSP00000416801:S883W;ENSP00000337797:S900W	ENSP00000337797:S900W	S	-	2	0	PIDD	789341	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.073000	0.11468	0.979000	0.38497	0.448000	0.29417	TCG	PIDD	-	NULL		0.662	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000257107.2	G			799341	-1	no_errors	ENST00000347755	ensembl	human	known	70_37	missense	SNP	0.000	C	C	799341	G	C	799341	1	2	164	0	1	0	0	0	0	0	0	0	8959	1059	37	1		1	LRDD	11	799341	5'Flank	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		799341	134207175	402	31190										
MUC5B	727897	genome.wustl.edu	37	chr11	1269088	1269088	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcaagatgtgcttcaactatGaaatccgtgtgttctgctgc	9	9	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:1269088G>A	ENST00000529681.1	+	31	11036	c.10978G>A	c.(10978-10980)Gaa>Aaa	p.E3660K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.E3663K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3660	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTCAACTATGAAATCCGTGT	0.617																																																	0													34	41	39					11																	1269088		1876	4042	5918	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10978G>A	11.37:g.1269088G>A	ENSP00000436812:p.Glu3660Lys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.E3663K	ENST00000529681.1	37	c.10987	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762316	0.31228	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21543	2.0;2.0	4.05	-8.1	0.01086	.	.	.	.	.	T	0.31389	0.0795	M	0.68728	2.09	0.09310	N	1	P;B	0.47841	0.901;0.062	P;B	0.61533	0.89;0.048	T	0.35500	-0.9786	9	0.87932	D	0	.	4.7991	0.13287	0.3216:0.4239:0.1784:0.0762	.	4188;3663	A7Y9J9;E9PBJ0	.;.	K	3660;3663;3632;3565	ENSP00000436812:E3660K;ENSP00000415793:E3663K	ENSP00000343037:E3632K	E	+	1	0	MUC5B	1225664	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-7.232000	0.00041	-2.342000	0.00624	0.478000	0.44815	GAA	MUC5B	-	NULL		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1269088	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1269088	G	A	1269088	3	1	164	1	0	0	0	0	1	0	0	0	10002	1291	45	1	11109	1	MUC5B	11	1269088	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	469747	1269088	133737428	403	31191										
MUC5B	727897	genome.wustl.edu	37	chr11	1269198	1269198	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acctggatcctcacaaagctGaccacaacagccactacgac	6	16	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:1269198G>C	ENST00000529681.1	+	31	11146	c.11088G>C	c.(11086-11088)ctG>ctC	p.L3696L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.L3699L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3696	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCACAAAGCTGACCACAACAG	0.642																																																	0													114	146	135					11																	1269198		2070	4178	6248	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11088G>C	11.37:g.1269198G>C			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L3699	ENST00000529681.1	37	c.11097	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1269198	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.001	C	C	1269198	G	C	1269198	2	2	164	1	0	0	0	0	0	0	0	1	10002	1277	45	1		1	MUC5B	11	1269198	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	110	1269198	133737318	404	31192										
MUC5B	727897	genome.wustl.edu	37	chr11	1272287	1272287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagctccaaagccacttcctCctccagtccaaggactgcaa	6	17	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:1272287C>T	ENST00000529681.1	+	31	14235	c.14177C>T	c.(14176-14178)tCc>tTc	p.S4726F	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S4729F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4726	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccacttcctcctccaGTCCA	0.602																																																	0													146	171	163					11																	1272287		2156	4244	6400	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14177C>T	11.37:g.1272287C>T	ENSP00000436812:p.Ser4726Phe		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S4729F	ENST00000529681.1	37	c.14186	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	3.430	-0.116301	0.06881	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	T;T	0.22743	1.94;2.12	1.37	1.37	0.22104	.	.	.	.	.	T	0.19725	0.0474	L	0.43152	1.355	0.09310	N	1	P	0.50156	0.932	P	0.44359	0.447	T	0.12016	-1.0564	9	0.87932	D	0	.	7.7881	0.29103	0.0:1.0:0.0:0.0	.	4729	E9PBJ0	.	F	4726;4729;4670;499	ENSP00000436812:S4726F;ENSP00000415793:S4729F	ENSP00000343037:S4670F	S	+	2	0	MUC5B	1228863	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.206000	0.09398	0.733000	0.32492	0.194000	0.17425	TCC	MUC5B	-	NULL		0.602	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1272287	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.003	T	T	1272287	C	T	1272287	3	4	164	1	0	0	0	0	1	0	0	0	10002	855	30	1	14308	1	MUC5B	11	1272287	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3089	1272287	133734229	405	31193										
TSSC4	10078	genome.wustl.edu	37	chr11	2424570	2424570	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagggtcctggggaaggtggGagagccaggcaggggcggcc	23	8	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:2424570G>C	ENST00000333256.6	+	3	1150	c.707G>C	c.(706-708)gGa>gCa	p.G236A	TSSC4_ENST00000451491.2_Missense_Mutation_p.G236A|TSSC4_ENST00000380996.5_Missense_Mutation_p.G172A|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380992.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	236										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGGTGGGAGAGCCAGGC	0.682																																																	0													33	41	38					11																	2424570		2200	4299	6499	SO:0001583	missense	10078			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.707G>C	11.37:g.2424570G>C	ENSP00000331087:p.Gly236Ala		C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	NULL	p.G236A	ENST00000333256.6	37	c.707	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.887332	0.00060	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000440813;ENST00000451491	T;T;T;T	0.23348	2.3;2.56;1.91;2.56	2.68	0.649	0.17806	.	1.319570	0.05293	U	0.521542	T	0.15565	0.0375	L	0.36672	1.1	0.09310	N	1	B;B	0.32101	0.356;0.356	B;B	0.30401	0.115;0.115	T	0.16867	-1.0388	10	0.07644	T	0.81	-2.5086	2.3273	0.04226	0.1209:0.1792:0.5016:0.1983	.	236;172	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	A	172;236;172;236	ENSP00000370384:G172A;ENSP00000331087:G236A;ENSP00000416937:G172A;ENSP00000411224:G236A	ENSP00000331087:G236A	G	+	2	0	TSSC4	2381146	0.937000	0.31787	0.000000	0.03702	0.015000	0.08874	0.497000	0.22514	0.182000	0.20032	0.462000	0.41574	GGA	TSSC4	-	NULL		0.682	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	G	NM_005706		2424570	1	no_errors	ENST00000333256	ensembl	human	known	70_37	missense	SNP	0.000	C	C	2424570	G	C	2424570	3	2	164	1	0	0	0	0	1	0	0	0	16698	1174	41	1	709	1	TSSC4	11	2424570	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1152283	2424570	132581946	406	31194										
TRIM68	55128	genome.wustl.edu	37	chr11	4623468	4623468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctggctctgctggatgagctCgctatggttcaactccagtt	11	11	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:4623468C>T	ENST00000300747.5	-	4	986	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	233					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGATGAGCTCGCTATGGTTC	0.592																																																	0													112	109	110					11																	4623468		2201	4298	6499	SO:0001583	missense	55128			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.697G>A	11.37:g.4623468C>T	ENSP00000300747:p.Glu233Lys		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E233K	ENST00000300747.5	37	c.697	CCDS31356.1	11	.	.	.	.	.	.	.	.	.	.	C	0.106	-1.145338	0.01714	.	.	ENSG00000167333	ENST00000300747;ENST00000526337	T;T	0.04234	3.67;3.67	4.17	-3.25	0.05079	.	1.513550	0.04269	N	0.341708	T	0.03695	0.0105	L	0.40543	1.245	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.43048	-0.9415	10	0.06099	T	0.92	.	4.6361	0.12525	0.0:0.3545:0.2959:0.3496	.	233	Q6AZZ1	TRI68_HUMAN	K	233;10	ENSP00000300747:E233K;ENSP00000434681:E10K	ENSP00000300747:E233K	E	-	1	0	TRIM68	4580044	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-1.043000	0.03535	-0.613000	0.05694	0.491000	0.48974	GAG	TRIM68	-	NULL		0.592	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM68	HGNC	protein_coding	OTTHUMT00000385948.1	C	NM_018073		4623468	-1	no_errors	ENST00000300747	ensembl	human	known	70_37	missense	SNP	0.000	T	T	4623468	C	T	4623468	3	4	164	1	0	0	0	0	1	0	0	0	16572	893	31	1	776	1	TRIM68	11	4623468	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2198898	4623468	130383048	407	31195										
OR51M1	390059	genome.wustl.edu	37	chr11	5411548	5411548	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccaatcatatacagcattaAgaccaaggagatccaccgtg	7	12	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:5411548A>C	ENST00000328611.3	+	1	942	c.920A>C	c.(919-921)aAg>aCg	p.K307T	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	307					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACAGCATTAAGACCAAGGAG	0.463																																																	0													32	28	29					11																	5411548		1926	4140	6066	SO:0001583	missense	390059			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.920A>C	11.37:g.5411548A>C	ENSP00000333196:p.Lys307Thr		Q6IF80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K307T	ENST00000328611.3	37	c.920	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540012	0.65085	.	.	ENSG00000184698	ENST00000328611	T	0.36699	1.24	5.12	5.12	0.69794	.	0.000000	0.35708	U	0.003038	T	0.74092	0.3671	H	0.98507	4.25	0.34543	D	0.710432	D	0.89917	1.0	D	0.79108	0.992	D	0.88437	0.3039	10	0.87932	D	0	.	13.8844	0.63699	1.0:0.0:0.0:0.0	.	296	Q9H341	O51M1_HUMAN	T	307	ENSP00000333196:K307T	ENSP00000333196:K307T	K	+	2	0	OR51M1	5368124	0.000000	0.05858	1.000000	0.80357	0.963000	0.63663	0.108000	0.15396	2.160000	0.67779	0.533000	0.62120	AAG	OR51M1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.463	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	A	NM_001004756		5411548	1	no_errors	ENST00000328611	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5411548	A	C	5411548	3	2	164	1	0	0	0	0	1	0	0	0	11127	72	3	5	922	5	OR51M1	11	5411548	Missense_Mutation	SNP	A	TCGA-JX-A3Q0-01A-11D-A21Q-09	788080	5411548	129594968	408	31196										
UBQLN3	50613	genome.wustl.edu	37	chr11	5529679	5529679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	actgatggtggtggttcctgGctttggctgagggcagatgc	17	7	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:5529679G>A	ENST00000311659.4	-	2	1257	c.1110C>T	c.(1108-1110)agC>agT	p.S370S	HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	370										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTTCCTGGCTTTGGCTGA	0.537																																					Ovarian(72;684 1260 12332 41642 52180)												0													154	158	157					11																	5529679		2201	4297	6498	SO:0001819	synonymous_variant	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1110C>T	11.37:g.5529679G>A			Q9NRE0	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.S370	ENST00000311659.4	37	c.1110	CCDS7758.1	11																																																																																			UBQLN3	-	NULL		0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	G	NM_017481		5529679	-1	no_errors	ENST00000311659	ensembl	human	known	70_37	silent	SNP	0.066	A	A	5529679	G	A	5529679	2	1	164	1	0	0	0	0	0	0	0	1	16929	1194	42	4		4	UBQLN3	11	5529679	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	118131	5529679	129476837	409	31197										
OR52N5	390075	genome.wustl.edu	37	chr11	5799592	5799592	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agactgaaccagaagatgcaGagtgcattgggtagagtggt	15	5	0	6			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:5799592G>A	ENST00000317093.2	-	1	305	c.273C>T	c.(271-273)ctC>ctT	p.L91L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAAGATGCAGAGTGCATTGG	0.458																																																	0													97	93	94					11																	5799592		2120	4092	6212	SO:0001819	synonymous_variant	390075			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.273C>T	11.37:g.5799592G>A			B9EH12|Q6IFG2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.L91	ENST00000317093.2	37	c.273	CCDS31397.1	11																																																																																			OR52N5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.458	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1	G	NM_001001922		5799592	-1	no_errors	ENST00000317093	ensembl	human	known	70_37	silent	SNP	0.028	A	A	5799592	G	A	5799592	2	1	164	1	0	0	0	0	0	0	0	1	11154	929	33	1		1	OR52N5	11	5799592	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	269913	5799592	129206924	410	31198										
DCHS1	8642	genome.wustl.edu	37	chr11	6650693	6650693	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caacatgtacctgtcaggttGatctcctcctgttcctctcg	7	14	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:6650693G>A	ENST00000299441.3	-	12	5562	c.5151C>T	c.(5149-5151)atC>atT	p.I1717I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1717	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCAGGTTGATCTCCTCCT	0.493																																																	0													89	83	85					11																	6650693		2201	4296	6497	SO:0001819	synonymous_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5151C>T	11.37:g.6650693G>A			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I1717	ENST00000299441.3	37	c.5151	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.493	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6650693	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	silent	SNP	0.999	A	A	6650693	G	A	6650693	2	1	164	1	0	0	0	0	0	0	0	1	4292	1280	45	1		1	DCHS1	11	6650693	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	851101	6650693	128355823	411	31199										
LMO1	4004	genome.wustl.edu	37	chr11	8251899	8251899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtagagggtggagcccacctCgcccaggcggcagtcacagc	15	14	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:8251899C>T	ENST00000335790.3	-	2	673	c.178G>A	c.(178-180)Gag>Aag	p.E60K	LMO1_ENST00000534484.1_Missense_Mutation_p.E49K|LMO1_ENST00000428101.2_Missense_Mutation_p.E59K	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	60	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		GAGCCCACCTCGCCCAGGCGG	0.607			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma																																	yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	0													121	119	119					11																	8251899		2201	4296	6497	SO:0001583	missense	4004			M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.178G>A	11.37:g.8251899C>T	ENSP00000338207:p.Glu60Lys		E9PSF5|Q4VBC5|Q8IXR0	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E60K	ENST00000335790.3	37	c.178	CCDS44534.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.658394	0.96734	.	.	ENSG00000166407	ENST00000335790;ENST00000428101;ENST00000534484	D;D;D	0.87412	-2.25;-2.25;-2.25	5.33	5.33	0.75918	Zinc finger, LIM-type (4);	0.350509	0.30714	N	0.009021	D	0.90676	0.7075	M	0.84326	2.69	0.80722	D	1	D;D	0.57899	0.981;0.981	B;P	0.47251	0.382;0.542	D	0.92391	0.5921	10	0.87932	D	0	.	19.0112	0.92874	0.0:1.0:0.0:0.0	.	59;60	E9PSF5;P25800	.;RBTN1_HUMAN	K	60;59;49	ENSP00000338207:E60K;ENSP00000404538:E59K;ENSP00000435456:E49K	ENSP00000338207:E60K	E	-	1	0	LMO1	8208475	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.500000	0.84329	0.591000	0.81541	GAG	LMO1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.607	LMO1-001	KNOWN	basic|CCDS	protein_coding	LMO1	HGNC	protein_coding	OTTHUMT00000386503.2	C	NM_002315		8251899	-1	no_errors	ENST00000335790	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8251899	C	T	8251899	3	4	164	1	0	0	0	0	1	0	0	0	8872	893	31	1	304	1	LMO1	11	8251899	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1601206	8251899	126754617	412	31200										
PIK3C2A	5286	genome.wustl.edu	37	chr11	17191131	17191131	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgcttgacaactcaaagcctCtctgattgtcagtcacttgt	7	11	4	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:17191131C>T	ENST00000265970.7	-	1	157	c.158G>A	c.(157-159)aGa>aAa	p.R53K	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	53	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTCAAAGCCTCTCTGATTGTC	0.403																																																	0													269	259	263					11																	17191131		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.158G>A	11.37:g.17191131C>T	ENSP00000265970:p.Arg53Lys		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.R53K	ENST00000265970.7	37	c.158	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	C	8.445	0.851664	0.17034	.	.	ENSG00000011405	ENST00000265970;ENST00000544896;ENST00000532035	T	0.61627	0.09	5.52	2.43	0.29744	.	0.567543	0.19563	N	0.111299	T	0.33089	0.0851	N	0.24115	0.695	0.20307	N	0.999917	B;B	0.28933	0.228;0.022	B;B	0.27796	0.083;0.01	T	0.24799	-1.0150	10	0.05833	T	0.94	-9.6168	6.153	0.20322	0.0:0.5282:0.282:0.1898	.	53;53	F5H5W9;O00443	.;P3C2A_HUMAN	K	53	ENSP00000265970:R53K	ENSP00000265970:R53K	R	-	2	0	PIK3C2A	17147707	0.033000	0.19621	0.993000	0.49108	0.978000	0.69477	0.854000	0.27791	0.649000	0.30751	0.585000	0.79938	AGA	PIK3C2A	-	NULL		0.403	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	C	NM_002645		17191131	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	missense	SNP	0.311	T	T	17191131	C	T	17191131	3	4	164	1	0	0	0	0	1	0	0	0	11933	913	32	1	5030	1	PIK3C2A	11	17191131	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8939232	17191131	117815385	413	31201										
C11orf41	25758	genome.wustl.edu	37	chr11	33583270	33583270	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agaaacaaccagagactattGggtaattacaggtaatctct	8	7	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:33583270G>A	ENST00000321505.4	+	7	3356	c.3176G>A	c.(3175-3177)tGg>tAg	p.W1059*	KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.W1065*|KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.W1065*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1059						integral component of membrane (GO:0016021)											AGAGACTATTGGGTAATTACA	0.318																																																	0													110	111	111					11																	33583270		1809	4077	5886	SO:0001587	stop_gained	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3176G>A	11.37:g.33583270G>A	ENSP00000315295:p.Trp1059*		B0QYU0	Nonsense_Mutation	SNP	NULL	p.W1065*	ENST00000321505.4	37	c.3194	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.396336|10.396336	0.99397|0.99397	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.49677|.	0.1571|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38585|.	-0.9654|.	3|.	.|0.02654	.|T	.|1	-9.9885|-9.9885	20.2985|20.2985	0.98592|0.98592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	457|1059;1065;1065;898	.|.	.|ENSP00000265654:W1065X	G|W	+|+	1|2	0|0	C11orf41|C11orf41	33539846|33539846	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.704000|0.704000	0.40688|0.40688	8.921000|8.921000	0.92784|0.92784	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGG|TGG	KIAA1549L	-	NULL		0.318	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	G	NM_012194		33583270	1	no_errors	ENST00000389726	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	33583270	G	A	33583270	4	1	164	1	0	0	0	0	0	1	0	0	1644	1357	47	4	3220	4	C11orf41	11	33583270	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	16392139	33583270	101423246	414	31202										
ACCSL	390110	genome.wustl.edu	37	chr11	44079866	44079866	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtttttcctctacccatccaGaatggattgacaaagtatac	6	10	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:44079866G>C	ENST00000378832.1	+	12	1383		c.e12-1			NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TACCCATCCAGAATGGATTGA	0.463																																																	0													81	78	79					11																	44079866		1892	4113	6005	SO:0001630	splice_region_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1328-1G>C	11.37:g.44079866G>C				Splice_Site	SNP	-	e12-1	ENST00000378832.1	37	c.1328-1	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397205	0.42512	.	.	ENSG00000205126	ENST00000378832	.	.	.	4.71	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0464	0.47861	0.0914:0.0:0.9086:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCSL	44036442	1.000000	0.71417	0.822000	0.32727	0.096000	0.18686	6.098000	0.71458	1.329000	0.45376	0.655000	0.94253	.	ACCSL	-	-		0.463	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	G	NM_001031854	Intron	44079866	1	no_errors	ENST00000378832	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	44079866	G	C	44079866	5	2	164	1	0	0	0	0	0	0	1	0	134	956	33	1	1373	1	ACCSL	11	44079866	Splice_Site	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	10496596	44079866	90926650	415	31203										
CRY2	1408	genome.wustl.edu	37	chr11	45869177	45869177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgttgctggcggccgtgcgcGgggcgcgctgcgtgcgctgc	20	14	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:45869177G>A	ENST00000443527.2	+	1	221	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	46	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GGCCGTGCGCGGGGCGCGCTG	0.716																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												0													9	10	10					11																	45869177		2161	4232	6393	SO:0001583	missense	1408			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.199G>A	11.37:g.45869177G>A	ENSP00000406751:p.Gly67Arg		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.G67R	ENST00000443527.2	37	c.199	CCDS7915.2	11	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854903	0.91355	.	.	ENSG00000121671	ENST00000443527	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.54863	1.705	0.58432	D	0.999999	P	0.44044	0.825	B	0.34093	0.175	T	0.55412	-0.8145	9	0.41790	T	0.15	-34.1552	16.9381	0.86208	0.0:0.0:1.0:0.0	.	67	B4DZD6	.	R	67	.	ENSP00000406751:G67R	G	+	1	0	CRY2	45825753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.062000	0.57492	2.813000	0.96785	0.561000	0.74099	GGG	CRY2	-	pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N		0.716	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	G	NM_021117		45869177	1	no_errors	ENST00000443527	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45869177	G	A	45869177	3	1	164	1	0	0	0	0	1	0	0	0	3909	1116	39	2	237	2	CRY2	11	45869177	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1789311	45869177	89137339	416	31204										
HARBI1	283254	genome.wustl.edu	37	chr11	46637691	46637691	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atacatggacatcaagtattCatcagtcacatcatccagct							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:46637691C>T	ENST00000326737.3	-	2	344	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000528494.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	33						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATCAAGTATTCATCAGTCACA	0.483																																																	0													90	81	84					11																	46637691		2201	4299	6500	SO:0001583	missense	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.97G>A	11.37:g.46637691C>T	ENSP00000317743:p.Glu33Lys		D3DQP9	Missense_Mutation	SNP	pfam_Harbinger_derived_prot_plant	p.E33K	ENST00000326737.3	37	c.97	CCDS7920.1	11	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764787	0.49574	.	.	ENSG00000180423	ENST00000326737;ENST00000529192;ENST00000532281	.	.	.	5.37	5.37	0.77165	.	0.442058	0.28533	N	0.015006	T	0.52980	0.1768	L	0.27053	0.805	0.39017	D	0.959664	B	0.33512	0.415	B	0.40741	0.339	T	0.51340	-0.8718	9	0.27082	T	0.32	-6.2151	19.1143	0.93331	0.0:1.0:0.0:0.0	.	33	Q96MB7	HARB1_HUMAN	K	33	.	ENSP00000317743:E33K	E	-	1	0	HARBI1	46594267	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.960000	0.49161	2.534000	0.85438	0.655000	0.94253	GAA	HARBI1	-	NULL		0.483	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARBI1	HGNC	protein_coding	OTTHUMT00000390291.1	C	NM_173811		46637691	-1	no_errors	ENST00000326737	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46637691	C	T	46637691	3	4	164	1	0	0	0	0	1	0	0	0	6978	835	29	1	960	1	HARBI1	11	46637691	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	768514	46637691	88368825	417	31205	197	3								
HARBI1	283254	genome.wustl.edu	37	chr11	46637694	46637694	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	catggacatcaagtattcatCagtcacatcatccagcttaa							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:46637694C>T	ENST00000326737.3	-	2	341	c.94G>A	c.(94-96)Gat>Aat	p.D32N	ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000528494.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	32						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						AAGTATTCATCAGTCACATCA	0.468																																																	0													91	82	85					11																	46637694		2201	4299	6500	SO:0001583	missense	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.94G>A	11.37:g.46637694C>T	ENSP00000317743:p.Asp32Asn		D3DQP9	Missense_Mutation	SNP	pfam_Harbinger_derived_prot_plant	p.D32N	ENST00000326737.3	37	c.94	CCDS7920.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290152	0.80914	.	.	ENSG00000180423	ENST00000326737;ENST00000529192;ENST00000532281	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.32530	0.975	0.80722	D	1	P	0.52316	0.952	P	0.51701	0.677	T	0.62358	-0.6871	9	0.52906	T	0.07	-21.1694	19.1143	0.93331	0.0:1.0:0.0:0.0	.	32	Q96MB7	HARB1_HUMAN	N	32	.	ENSP00000317743:D32N	D	-	1	0	HARBI1	46594270	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	5.693000	0.68264	2.534000	0.85438	0.655000	0.94253	GAT	HARBI1	-	NULL		0.468	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARBI1	HGNC	protein_coding	OTTHUMT00000390291.1	C	NM_173811		46637694	-1	no_errors	ENST00000326737	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46637694	C	T	46637694	3	4	164	1	0	0	0	0	1	0	0	0	6978	826	29	1	963	1	HARBI1	11	46637694	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3	46637694	88368822	418	31206	197	3								
HARBI1	283254	genome.wustl.edu	37	chr11	46637703	46637703	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caagtattcatcagtcacatCatccagcttaaaacggtcca							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:46637703C>T	ENST00000326737.3	-	2	332	c.85G>A	c.(85-87)Gat>Aat	p.D29N	ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000528494.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	29						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TCAGTCACATCATCCAGCTTA	0.453																																																	0													97	86	89					11																	46637703		2201	4299	6500	SO:0001583	missense	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.85G>A	11.37:g.46637703C>T	ENSP00000317743:p.Asp29Asn		D3DQP9	Missense_Mutation	SNP	pfam_Harbinger_derived_prot_plant	p.D29N	ENST00000326737.3	37	c.85	CCDS7920.1	11	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127452	0.37533	.	.	ENSG00000180423	ENST00000326737;ENST00000529192;ENST00000532281	.	.	.	5.37	5.37	0.77165	.	0.199761	0.52532	D	0.000073	T	0.45418	0.1341	L	0.27053	0.805	0.41231	D	0.986576	B	0.26635	0.155	B	0.21546	0.035	T	0.36915	-0.9728	9	0.13853	T	0.58	-21.4114	19.1143	0.93331	0.0:1.0:0.0:0.0	.	29	Q96MB7	HARB1_HUMAN	N	29	.	ENSP00000317743:D29N	D	-	1	0	HARBI1	46594279	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.996000	0.40776	2.534000	0.85438	0.655000	0.94253	GAT	HARBI1	-	NULL		0.453	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARBI1	HGNC	protein_coding	OTTHUMT00000390291.1	C	NM_173811		46637703	-1	no_errors	ENST00000326737	ensembl	human	known	70_37	missense	SNP	0.998	T	T	46637703	C	T	46637703	3	4	164	1	0	0	0	0	1	0	0	0	6978	826	29	1	972	1	HARBI1	11	46637703	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	9	46637703	88368813	419	31207	197	3								
KIAA0652	9776	genome.wustl.edu	37	chr11	46690371	46690371	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctccagattccccagagactGaatctcctctccagggcagc	8	16	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:46690371G>C	ENST00000434074.1	+	15	1947	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	ATG13_ENST00000526508.1_Missense_Mutation_p.E420Q|ATG13_ENST00000524625.1_Missense_Mutation_p.E383Q|ATG13_ENST00000359513.4_Missense_Mutation_p.E420Q|ATG13_ENST00000529655.1_Missense_Mutation_p.E383Q|ATG13_ENST00000312040.4_Missense_Mutation_p.E420Q|ATG13_ENST00000530500.1_Missense_Mutation_p.E304Q|ATG13_ENST00000451945.1_Missense_Mutation_p.E383Q|ATG13_ENST00000528494.1_Missense_Mutation_p.E453Q	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	420					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CCCAGAGACTGAATCTCCTCT	0.493																																																	0													121	109	113					11																	46690371		2201	4299	6500	SO:0001583	missense	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1258G>C	11.37:g.46690371G>C	ENSP00000400642:p.Glu420Gln		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	pfam_Autophagy-rel_p13	p.E420Q	ENST00000434074.1	37	c.1258	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	G	5.643	0.303357	0.10678	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.95	4.04	0.47022	.	0.925683	0.09395	N	0.808015	T	0.32133	0.0819	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.26635	0.001;0.082;0.155;0.066	B;B;B;B	0.21917	0.001;0.037;0.037;0.028	T	0.21793	-1.0235	9	0.11182	T	0.66	0.9157	11.3195	0.49412	0.1513:0.0:0.8487:0.0	.	304;420;453;383	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	Q	383;420;420;383;383;304;420;383;420;453;152	.	ENSP00000310321:E420Q	E	+	1	0	ATG13	46646947	0.155000	0.22806	0.001000	0.08648	0.030000	0.12068	3.037000	0.49775	0.805000	0.34159	0.655000	0.94253	GAA	ATG13	-	NULL		0.493	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2	G	NM_014741		46690371	1	no_errors	ENST00000312040	ensembl	human	known	70_37	missense	SNP	0.001	C	C	46690371	G	C	46690371	3	2	164	1	0	0	0	0	1	0	0	0	8208	1291	45	1	1312	1	KIAA0652	11	46690371	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	52668	46690371	88316145	420	31208										
OR4X1	390113	genome.wustl.edu	37	chr11	48285589	48285589	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcacctcccccatgtatttCtttctcagctacttatcctt	2	16	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:48285589C>T	ENST00000320048.1	+	1	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCATGTATTTCTTTCTCAGCT	0.473																																																	0													148	135	140					11																	48285589		2201	4298	6499	SO:0001819	synonymous_variant	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.177C>T	11.37:g.48285589C>T			Q6IF74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F59	ENST00000320048.1	37	c.177	CCDS31487.1	11																																																																																			OR4X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X1	HGNC	protein_coding	OTTHUMT00000383373.1	C	NM_001004726		48285589	1	no_errors	ENST00000320048	ensembl	human	known	70_37	silent	SNP	0.992	T	T	48285589	C	T	48285589	2	4	164	1	0	0	0	0	0	0	0	1	11108	912	32	1		1	OR4X1	11	48285589	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1595218	48285589	86720927	421	31209										
OR4C15	81309	genome.wustl.edu	37	chr11	55322127	55322127	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtgtctcctatgtacttcttCttgggcttcctgtccttcct	7	13	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:55322127C>T	ENST00000314644.2	+	1	345	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F115L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTACTTCTTCTTGGGCTTCC	0.443										HNSCC(20;0.049)																																							1	Substitution - Missense(1)	large_intestine(1)											181	144	156					11																	55322127		2201	4296	6497	SO:0001819	synonymous_variant	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.345C>T	11.37:g.55322127C>T			Q6IFE2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F115	ENST00000314644.2	37	c.345	CCDS31501.1	11																																																																																			OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	C	NM_001001920		55322127	1	no_errors	ENST00000314644	ensembl	human	known	70_37	silent	SNP	0.031	T	T	55322127	C	T	55322127	2	4	164	1	0	0	0	0	0	0	0	1	11072	912	32	1		1	OR4C15	11	55322127	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	7036538	55322127	79684389	422	31210										
OR5F1	338674	genome.wustl.edu	37	chr11	55761413	55761413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctctgtgcctcccctcccccGaatgcatagaaaaaatggag	8	14	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:55761413G>A	ENST00000278409.1	-	1	688	c.689C>T	c.(688-690)tCg>tTg	p.S230L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	230					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230L(1)|p.S230*(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCCTCCCCCGAATGCATAGA	0.478																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|prostate(1)											56	55	55					11																	55761413		2201	4296	6497	SO:0001583	missense	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.689C>T	11.37:g.55761413G>A	ENSP00000278409:p.Ser230Leu		Q495D1|Q6IFB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S230L	ENST00000278409.1	37	c.689	CCDS31515.1	11	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717160	0.15372	.	.	ENSG00000149133	ENST00000278409	T	0.00330	8.08	2.99	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.91300	3.195	0.09310	N	1	D	0.55800	0.973	P	0.52109	0.69	T	0.31998	-0.9923	9	0.87932	D	0	.	12.8727	0.57975	0.0:0.0:1.0:0.0	.	230	O95221	OR5F1_HUMAN	L	230	ENSP00000278409:S230L	ENSP00000278409:S230L	S	-	2	0	OR5F1	55517989	0.065000	0.20965	0.082000	0.20525	0.055000	0.15305	0.878000	0.28126	1.417000	0.47077	0.289000	0.19496	TCG	OR5F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	HGNC	protein_coding	OTTHUMT00000391532.1	G	NM_003697		55761413	-1	no_errors	ENST00000278409	ensembl	human	known	70_37	missense	SNP	0.013	A	A	55761413	G	A	55761413	3	1	164	1	0	0	0	0	1	0	0	0	11182	1059	37	1	258	1	OR5F1	11	55761413	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	439286	55761413	79245103	423	31211										
OR5F1	338674	genome.wustl.edu	37	chr11	55762043	55762043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggataatctgtagctccagcGtgtctgctaatcccaatagg	10	10	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:55762043G>A	ENST00000278409.1	-	1	58	c.59C>T	c.(58-60)aCg>aTg	p.T20M		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	20					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T20M(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAGCTCCAGCGTGTCTGCTAA	0.363																																																	1	Substitution - Missense(1)	ovary(1)											62	63	63					11																	55762043		2201	4296	6497	SO:0001583	missense	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.59C>T	11.37:g.55762043G>A	ENSP00000278409:p.Thr20Met		Q495D1|Q6IFB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T20M	ENST00000278409.1	37	c.59	CCDS31515.1	11	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665085	0.29604	.	.	ENSG00000149133	ENST00000278409	T	0.01099	5.34	3.03	-0.459	0.12179	.	.	.	.	.	T	0.01489	0.0048	L	0.39898	1.24	0.09310	N	1	D	0.59767	0.986	P	0.47528	0.549	T	0.52132	-0.8616	9	0.52906	T	0.07	.	4.5639	0.12173	0.2347:0.0:0.5879:0.1774	.	20	O95221	OR5F1_HUMAN	M	20	ENSP00000278409:T20M	ENSP00000278409:T20M	T	-	2	0	OR5F1	55518619	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.010000	0.00314	0.395000	0.25257	0.297000	0.19635	ACG	OR5F1	-	NULL		0.363	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	HGNC	protein_coding	OTTHUMT00000391532.1	G	NM_003697		55762043	-1	no_errors	ENST00000278409	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55762043	G	A	55762043	3	1	164	1	0	0	0	0	1	0	0	0	11182	1145	40	2	888	2	OR5F1	11	55762043	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	630	55762043	79244473	424	31212										
OR5AR1	219493	genome.wustl.edu	37	chr11	56431445	56431445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcacaaagttatctccttctCcagctgtgccacccagtttg	6	14	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:56431445C>G	ENST00000302969.2	+	1	308	c.284C>G	c.(283-285)tCc>tGc	p.S95C		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATCTCCTTCTCCAGCTGTGCC	0.502																																																	0													182	185	184					11																	56431445		2201	4296	6497	SO:0001583	missense	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.284C>G	11.37:g.56431445C>G	ENSP00000302639:p.Ser95Cys		Q6IF61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S95C	ENST00000302969.2	37	c.284	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267672	0.40095	.	.	ENSG00000172459	ENST00000302969	T	0.00408	7.54	5.04	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000428	T	0.00356	0.0011	L	0.46819	1.47	0.09310	N	1	P	0.52463	0.953	B	0.39971	0.315	T	0.60767	-0.7198	10	0.37606	T	0.19	.	13.811	0.63264	0.1541:0.8459:0.0:0.0	.	95	Q8NGP9	O5AR1_HUMAN	C	95	ENSP00000302639:S95C	ENSP00000302639:S95C	S	+	2	0	OR5AR1	56188021	0.000000	0.05858	0.998000	0.56505	0.848000	0.48234	-0.829000	0.04415	1.314000	0.45095	0.573000	0.79308	TCC	OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	C	NM_001004730		56431445	1	no_errors	ENST00000302969	ensembl	human	known	70_37	missense	SNP	0.089	G	G	56431445	C	G	56431445	3	3	164	1	0	0	0	0	1	0	0	0	11169	855	30	1	286	1	OR5AR1	11	56431445	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	669402	56431445	78575071	425	31213										
SSRP1	6749	genome.wustl.edu	37	chr11	57099862	57099862	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagggagacactcactcgttCatgttcagagtcaacgaaat	9	10	4	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:57099862C>T	ENST00000278412.2	-	7	1133	c.867G>A	c.(865-867)atG>atA	p.M289I		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	289					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCACTCGTTCATGTTCAGAG	0.522																																					Colon(89;1000 1340 6884 23013 41819)												0													219	166	184					11																	57099862		2201	4296	6497	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.867G>A	11.37:g.57099862C>T	ENSP00000278412:p.Met289Ile		Q5BJG8	Missense_Mutation	SNP	pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition	p.M289I	ENST00000278412.2	37	c.867	CCDS7952.1	11	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221071	0.58560	.	.	ENSG00000149136	ENST00000278412;ENST00000526696	T;T	0.39056	1.1;1.1	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.43701	1.375	0.80722	D	1	B	0.22414	0.069	B	0.15870	0.014	T	0.08973	-1.0696	10	0.38643	T	0.18	-34.2391	19.5069	0.95121	0.0:1.0:0.0:0.0	.	289	Q08945	SSRP1_HUMAN	I	289;192	ENSP00000278412:M289I;ENSP00000431154:M192I	ENSP00000278412:M289I	M	-	3	0	SSRP1	56856438	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.239000	0.78182	2.941000	0.99782	0.655000	0.94253	ATG	SSRP1	-	pfam_SSRP1_dom		0.522	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	HGNC	protein_coding	OTTHUMT00000392460.1	C	NM_003146		57099862	-1	no_errors	ENST00000278412	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57099862	C	T	57099862	3	4	164	1	0	0	0	0	1	0	0	0	15224	826	29	1	1306	1	SSRP1	11	57099862	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	668417	57099862	77906654	426	31214										
UBE2L6	9246	genome.wustl.edu	37	chr11	57321968	57321968	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgatgatgggcaggcaaatCtgtccgttctcgtccacgtt	11	11	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:57321968C>T	ENST00000287156.4	-	3	447	c.252G>A	c.(250-252)caG>caA	p.Q84Q	UBE2L6_ENST00000340573.4_Silent_p.Q18Q	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	84					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						GCAGGCAAATCTGTCCGTTCT	0.542																																																	0													212	188	196					11																	57321968		2201	4296	6497	SO:0001819	synonymous_variant	9246			AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"Ubiquitin-conjugating enzymes E2"	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.252G>A	11.37:g.57321968C>T			A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.Q84	ENST00000287156.4	37	c.252	CCDS7960.1	11																																																																																			UBE2L6	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.542	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L6	HGNC	protein_coding	OTTHUMT00000392657.1	C	NM_004223		57321968	-1	no_errors	ENST00000287156	ensembl	human	known	70_37	silent	SNP	0.875	T	T	57321968	C	T	57321968	2	4	164	1	0	0	0	0	0	0	0	1	16895	912	32	1		1	UBE2L6	11	57321968	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	222106	57321968	77684548	427	31215										
GIF	2694	genome.wustl.edu	37	chr11	59611401	59611401	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtcaggagcttctgggccttCaagttgtaggctccggccag	14	11	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:59611401C>T	ENST00000257248.2	-	2	254	c.207G>A	c.(205-207)ttG>ttA	p.L69L	GIF_ENST00000541311.1_Silent_p.L44L	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	69					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TCTGGGCCTTCAAGTTGTAGG	0.517																																					NSCLC(53;1139 1245 16872 38474 42853)												0													104	91	95					11																	59611401		2201	4295	6496	SO:0001819	synonymous_variant	2694			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.207G>A	11.37:g.59611401C>T			B2RAN8|B4DVZ1	Silent	SNP	pfam_Cbl-bd_transpt_euk	p.L69	ENST00000257248.2	37	c.207	CCDS7977.1	11																																																																																			GIF	-	pfam_Cbl-bd_transpt_euk		0.517	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	C	NM_005142		59611401	-1	no_errors	ENST00000257248	ensembl	human	known	70_37	silent	SNP	0.563	T	T	59611401	C	T	59611401	2	4	164	1	0	0	0	0	0	0	0	1	6395	825	29	1		1	GIF	11	59611401	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2289433	59611401	75395115	428	31216										
AHNAK	79026	genome.wustl.edu	37	chr11	62292606	62292606	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttcaggttaagatcaatgtCaggcatggagatcttggggg	14	5	4	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:62292606C>T	ENST00000378024.4	-	5	9557	c.9283G>A	c.(9283-9285)Gac>Aac	p.D3095N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3095					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGATCAATGTCAGGCATGGAG	0.448																																																	0													214	227	222					11																	62292606		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9283G>A	11.37:g.62292606C>T	ENSP00000367263:p.Asp3095Asn		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D3095N	ENST00000378024.4	37	c.9283	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	14.80	2.644856	0.47258	.	.	ENSG00000124942	ENST00000378024	T	0.00976	5.48	4.2	4.2	0.49525	.	.	.	.	.	T	0.07279	0.0184	M	0.90145	3.09	0.43936	D	0.996599	D	0.76494	0.999	D	0.80764	0.994	T	0.16100	-1.0414	9	0.42905	T	0.14	-10.6673	16.1538	0.81644	0.0:1.0:0.0:0.0	.	3095	Q09666	AHNK_HUMAN	N	3095	ENSP00000367263:D3095N	ENSP00000367263:D3095N	D	-	1	0	AHNAK	62049182	1.000000	0.71417	0.792000	0.32020	0.390000	0.30446	5.087000	0.64480	1.875000	0.54330	0.305000	0.20034	GAC	AHNAK	-	NULL		0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62292606	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62292606	C	T	62292606	3	4	164	1	0	0	0	0	1	0	0	0	414	826	29	1	8509	1	AHNAK	11	62292606	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2681205	62292606	72713910	429	31217										
EEF1G	1937	genome.wustl.edu	37	chr11	62327819	62327819	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggaagcgatactctgagtacCacagggaccagccgtcctta	11	12	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:62327819C>T	ENST00000329251.4	-	8	1095	c.965G>A	c.(964-966)tGg>tAg	p.W322*	EEF1G_ENST00000378019.3_Nonsense_Mutation_p.W372*|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	322	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCTGAGTACCACAGGGACCA	0.488																																																	0													31	27	28					11																	62327819		1880	4102	5982	SO:0001587	stop_gained	1937			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.965G>A	11.37:g.62327819C>T	ENSP00000331901:p.Trp322*		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Nonsense_Mutation	SNP	pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con	p.W372*	ENST00000329251.4	37	c.1115	CCDS44626.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.160171	0.94727	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	.	.	.	4.7	4.7	0.59300	.	0.055497	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2077	0.73192	0.0:1.0:0.0:0.0	.	.	.	.	X	322;372;91	.	ENSP00000331901:W322X	W	-	2	0	EEF1G	62084395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.465000	0.83290	0.550000	0.68814	TGG	EEF1G	-	pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con		0.488	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1G	HGNC	protein_coding	OTTHUMT00000395047.1	C	NM_001404		62327819	-1	no_errors	ENST00000378019	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	62327819	C	T	62327819	4	4	164	1	0	0	0	0	0	1	0	0	4938	595	21	4	360	4	EEF1G	11	62327819	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	35213	62327819	72678697	430	31218										
EML3	256364	genome.wustl.edu	37	chr11	62373588	62373588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccactgtaccagccggcggtCccgcccgccaccactcagca	9	21	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:62373588C>G	ENST00000394773.2	-	13	1910	c.1603G>C	c.(1603-1605)Gac>Cac	p.D535H	EML3_ENST00000278845.4_Missense_Mutation_p.D536H|EML3_ENST00000494176.2_Missense_Mutation_p.D507H|EML3_ENST00000531557.1_Missense_Mutation_p.D318H|EML3_ENST00000529309.1_Missense_Mutation_p.D535H|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000438258.1_5'UTR	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	535						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCCGGCGGTCCCGCCCGCCA	0.642																																																	0													48	59	55					11																	62373588		2202	4299	6501	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1603G>C	11.37:g.62373588C>G	ENSP00000378254:p.Asp535His		Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D535H	ENST00000394773.2	37	c.1603	CCDS8023.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.691559|4.691559	0.88735|0.88735	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.56941|.	0.86;0.82;0.43;0.43;0.43|.	5.25|5.25	5.25|5.25	0.73442|0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84070|0.84070	0.5391|0.5391	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.997;0.99;1.0;0.997;0.999|.	D|D	0.87206|0.87206	0.2244|0.2244	10|5	0.87932|.	D|.	0|.	-22.2953|-22.2953	16.3399|16.3399	0.83079|0.83079	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	535;535;318;536;507|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	H|A	535;536;318;507;535|529	ENSP00000378254:D535H;ENSP00000278845:D536H;ENSP00000433417:D318H;ENSP00000435064:D507H;ENSP00000434513:D535H|.	ENSP00000278845:D536H|.	D|G	-|-	1|2	0|0	EML3|EML3	62130164|62130164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.086000|7.086000	0.76885|0.76885	2.450000|2.450000	0.82876|0.82876	0.467000|0.467000	0.42956|0.42956	GAC|GGA	EML3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.642	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	C	NM_153265		62373588	-1	no_errors	ENST00000529309	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62373588	C	G	62373588	3	3	164	1	0	0	0	0	1	0	0	0	5110	855	30	1	1127	1	EML3	11	62373588	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	45769	62373588	72632928	431	31219										
RBM4B	83759	genome.wustl.edu	37	chr11	66444408	66444408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggttgcgtatggcatcctcaGctgccgtcttgtcttctatg	11	11	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:66444408G>A	ENST00000525754.1	-	1	811	c.143C>T	c.(142-144)gCt>gTt	p.A48V	RBM4B_ENST00000310046.4_Missense_Mutation_p.A48V|RBM4B_ENST00000531969.1_Missense_Mutation_p.A48V|RBM4B_ENST00000531036.2_Missense_Mutation_p.A48V|RBM4B_ENST00000524637.1_Missense_Mutation_p.A48V			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	48	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						GGCATCCTCAGCTGCCGTCTT	0.478																																																	0													131	124	126					11																	66444408		2199	4276	6475	SO:0001583	missense	83759			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	28842	protein-coding gene	gene with protein product			"RNA binding motif protein 30"	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.143C>T	11.37:g.66444408G>A	ENSP00000433071:p.Ala48Val		B3KT83	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.A48V	ENST00000525754.1	37	c.143	CCDS8149.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259563	0.80246	.	.	ENSG00000173914	ENST00000525754;ENST00000310046;ENST00000531969;ENST00000524637	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	L	0.60904	1.88	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	D	0.89686	0.3894	10	0.59425	D	0.04	.	18.547	0.91050	0.0:0.0:1.0:0.0	.	48	Q9BQ04	RBM4B_HUMAN	V	48	ENSP00000433071:A48V;ENSP00000310471:A48V;ENSP00000435239:A48V;ENSP00000433113:A48V	ENSP00000310471:A48V	A	-	2	0	RBM4B	66200984	1.000000	0.71417	0.992000	0.48379	0.166000	0.22503	7.933000	0.87642	2.694000	0.91930	0.555000	0.69702	GCT	RBM4B	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.478	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4B	HGNC	protein_coding	OTTHUMT00000393851.1	G	NM_031492		66444408	-1	no_errors	ENST00000310046	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66444408	G	A	66444408	3	1	164	1	0	0	0	0	1	0	0	0	13172	971	34	4	944	4	RBM4B	11	66444408	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4070820	66444408	68562108	432	31220										
PICALM	8301	genome.wustl.edu	37	chr11	85723350	85723350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aattaataattccttcattgTatgctgcaaacagtctaatg	5	7	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:85723350T>C	ENST00000393346.3	-	6	780	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	PICALM_ENST00000526033.1_Missense_Mutation_p.Y211C|PICALM_ENST00000532317.1_Missense_Mutation_p.Y211C|PICALM_ENST00000528398.1_Missense_Mutation_p.Y160C|PICALM_ENST00000356360.5_Missense_Mutation_p.Y211C			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	211					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCCTTCATTGTATGCTGCAAA	0.343			T	"MLLT10, MLL"	"TALL, AML, "																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													120	113	116					11																	85723350		2203	4299	6502	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.632A>G	11.37:g.85723350T>C	ENSP00000377015:p.Tyr211Cys		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Y211C	ENST00000393346.3	37	c.632	CCDS8272.1	11	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425076	0.83667	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.13	5.13	0.70059	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.993;1.0	D;D;D;D	0.97110	0.938;1.0;0.937;0.995	T	0.69774	-0.5054	9	.	.	.	-8.4181	15.2313	0.73390	0.0:0.0:0.0:1.0	.	160;211;211;211	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	C	211;211;211;211;160;211;177	ENSP00000436958:Y211C;ENSP00000433846:Y211C;ENSP00000377015:Y211C;ENSP00000434884:Y160C;ENSP00000348718:Y211C;ENSP00000433303:Y177C	.	Y	-	2	0	PICALM	85400998	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.934000	0.87649	2.051000	0.60960	0.383000	0.25322	TAC	PICALM	-	pfam_ANTH		0.343	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1	T	NM_007166		85723350	-1	no_errors	ENST00000393346	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85723350	T	C	85723350	3	2	164	1	0	0	0	0	1	0	0	0	11904	1638	57	5	1414	5	PICALM	11	85723350	Missense_Mutation	SNP	T	TCGA-JX-A3Q0-01A-11D-A21Q-09	19278942	85723350	49283166	433	31221										
NAALAD2	10003	genome.wustl.edu	37	chr11	89892437	89892437	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggaattgctccaccagataaGagttggaagggagcccttaa	12	8	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:89892437G>A	ENST00000534061.1	+	8	1151	c.921G>A	c.(919-921)aaG>aaA	p.K307K	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	307	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CACCAGATAAGAGTTGGAAGG	0.363																																																	0													113	110	111					11																	89892437		2201	4299	6500	SO:0001819	synonymous_variant	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.921G>A	11.37:g.89892437G>A			B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_Protease-assoc_domain	p.R276K	ENST00000534061.1	37	c.827	CCDS8288.1	11																																																																																			NAALAD2	-	NULL		0.363	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	G	NM_005467		89892437	1	no_errors	ENST00000527493	ensembl	human	known	70_37	missense	SNP	0.001	A	A	89892437	G	A	89892437	2	1	164	1	0	0	0	0	0	0	0	1	10151	933	33	1		1	NAALAD2	11	89892437	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4169087	89892437	45114079	434	31222										
MAML2	84441	genome.wustl.edu	37	chr11	95718733	95718733	+	Frame_Shift_Del	DEL	C	C	-													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gttgcatattgcccacatttCttctttggtctttataatct							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:95718733delC	ENST00000524717.1	-	4	3701	c.2417delG	c.(2416-2418)agafs	p.R806fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	806					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCCCACATTTCTTCTTTGGTC	0.323			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													182	155	163					11																	95718733		1833	4083	5916	SO:0001589	frameshift_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2417delG	11.37:g.95718733delC	ENSP00000434552:p.Arg806fs		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Frame_Shift_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.R806fs	ENST00000524717.1	37	c.2417	CCDS44714.1	11																																																																																			MAML2	-	NULL		0.323	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	C			95718733	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	95718733	C	-	95718733	7	5	164	1	0	1	0	1	0	0	0	0	9229	913	32	0	1061	0	MAML2	11	95718733	Frame_Shift_Del	DEL	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5826296	95718733	39287783	435	31223										
MMP12	4321	genome.wustl.edu	37	chr11	102738047	102738047	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcccacggtagtgacagcatCaaaactcaaattggggtcac	9	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:102738047C>G	ENST00000532855.1	-	0	960							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GTGACAGCATCAAAACTCAAA	0.373																																																	0													109	103	105					11																	102738047		1850	4099	5949			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738047C>G			B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	-	NULL	ENST00000532855.1	37	NULL		11																																																																																			MMP12	-	-		0.373	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	C	NM_002426		102738047	-1	no_errors	ENST00000326227	ensembl	human	known	70_37	rna	SNP	1.000	G	G	102738047	C	G	102738047	1	3	164	0	1	0	0	0	0	0	0	0	9674	826	29	1		1	MMP12	11	102738047	RNA	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	7019314	102738047	32268469	436	31224										
CUL5	8065	genome.wustl.edu	37	chr11	107968424	107968424	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtatgaacctcaagtcaactCacccaaagactttacagaag	6	11	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:107968424C>T	ENST00000393094.2	+	17	2583	c.1967C>T	c.(1966-1968)tCa>tTa	p.S656L		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	656					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CAAGTCAACTCACCCAAAGAC	0.358																																																	0													124	118	120					11																	107968424		2201	4298	6499	SO:0001583	missense	8065			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1967C>T	11.37:g.107968424C>T	ENSP00000376808:p.Ser656Leu		A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S656L	ENST00000393094.2	37	c.1967	CCDS31668.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.376437	0.95945	.	.	ENSG00000166266	ENST00000393094	T	0.74315	-0.83	5.63	5.63	0.86233	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (1);	0.000000	0.85682	D	0.000000	T	0.81351	0.4804	M	0.73598	2.24	0.80722	D	1	D	0.52996	0.957	P	0.49085	0.6	T	0.82707	-0.0324	10	0.56958	D	0.05	-10.6017	20.054	0.97641	0.0:1.0:0.0:0.0	.	656	Q93034	CUL5_HUMAN	L	656	ENSP00000376808:S656L	ENSP00000376808:S656L	S	+	2	0	CUL5	107473634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.808000	0.96608	0.655000	0.94253	TCA	CUL5	-	pfam_Cullin_N,superfamily_Cullin_homology		0.358	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	C			107968424	1	no_errors	ENST00000393094	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107968424	C	T	107968424	3	4	164	1	0	0	0	0	1	0	0	0	4064	838	29	1	2033	1	CUL5	11	107968424	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5230377	107968424	27038092	437	31225										
EXPH5	23086	genome.wustl.edu	37	chr11	108381912	108381912	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tacactcccaagaacttcttCtagtttgggaatttccaata	5	10	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:108381912C>G	ENST00000265843.4	-	6	4432	c.4322G>C	c.(4321-4323)aGa>aCa	p.R1441T	EXPH5_ENST00000443411.1_Missense_Mutation_p.R1253T|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1434T|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1365T	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1441					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGAACTTCTTCTAGTTTGGGA	0.413																																																	0													87	84	85					11																	108381912		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4322G>C	11.37:g.108381912C>G	ENSP00000265843:p.Arg1441Thr		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.R1441T	ENST00000265843.4	37	c.4322	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332536	0.24167	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03717	4.05;3.98;3.83;4.05;3.89	5.73	-0.428	0.12306	.	2.031920	0.01871	N	0.037187	T	0.03959	0.0111	L	0.38175	1.15	0.09310	N	1	P	0.37276	0.589	B	0.33454	0.164	T	0.47315	-0.9127	10	0.16420	T	0.52	2.2951	9.9661	0.41725	0.1457:0.6982:0.0:0.1561	.	1441	Q8NEV8	EXPH5_HUMAN	T	1441;1365;1253;1434;1365	ENSP00000265843:R1441T;ENSP00000391966:R1365T;ENSP00000411390:R1253T;ENSP00000432546:R1434T;ENSP00000432683:R1365T	ENSP00000265843:R1441T	R	-	2	0	EXPH5	107887122	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.240000	0.18042	0.106000	0.17784	0.591000	0.81541	AGA	EXPH5	-	NULL		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	C	NM_015065		108381912	-1	no_errors	ENST00000265843	ensembl	human	known	70_37	missense	SNP	0.000	G	G	108381912	C	G	108381912	3	3	164	1	0	0	0	0	1	0	0	0	5334	913	32	1	1651	1	EXPH5	11	108381912	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	413488	108381912	26624604	438	31226										
UBASH3B	84959	genome.wustl.edu	37	chr11	122665486	122665486	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tattggagaggcggccttatGaggaccaggggctcggggag	19	7	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:122665486G>A	ENST00000284273.5	+	7	1432	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	353					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GCGGCCTTATGAGGACCAGGG	0.507																																																	0													128	133	131					11																	122665486		2202	4299	6501	SO:0001583	missense	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1057G>A	11.37:g.122665486G>A	ENSP00000284273:p.Glu353Lys		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.E353K	ENST00000284273.5	37	c.1057	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612741	0.46631	.	.	ENSG00000154127	ENST00000284273	T	0.05717	3.4	5.38	4.47	0.54385	.	0.699539	0.14895	N	0.292158	T	0.04452	0.0122	N	0.08118	0	0.49582	D	0.999802	B	0.18013	0.025	B	0.20767	0.031	T	0.47484	-0.9114	10	0.30078	T	0.28	-15.6315	13.8219	0.63325	0.0736:0.0:0.9264:0.0	.	353	Q8TF42	UBS3B_HUMAN	K	353	ENSP00000284273:E353K	ENSP00000284273:E353K	E	+	1	0	UBASH3B	122170696	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	7.442000	0.80503	1.254000	0.44035	0.563000	0.77884	GAG	UBASH3B	-	NULL		0.507	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	G	NM_032873		122665486	1	no_errors	ENST00000284273	ensembl	human	known	70_37	missense	SNP	0.999	A	A	122665486	G	A	122665486	3	1	164	1	0	0	0	0	1	0	0	0	16871	1291	45	1	1083	1	UBASH3B	11	122665486	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	14283574	122665486	12341030	439	31227										
SPA17	53340	genome.wustl.edu	37	chr11	124551305	124551305	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaaccaactttgatccagcaGaatgggggagtaaggtagaa	12	6	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:124551305G>T	ENST00000532692.1	+	2	1596	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_Nonsense_Mutation_p.E59*			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	59					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TGATCCAGCAGAATGGGGGAG	0.343																																																	0													94	95	95					11																	124551305		2201	4299	6500	SO:0001587	stop_gained	53340			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"cancer/testis antigen 22"	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.175G>T	11.37:g.124551305G>T	ENSP00000432305:p.Glu59*		B2R4F2|Q9BXF7	Nonsense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS	p.E59*	ENST00000532692.1	37	c.175	CCDS8450.1	11	.	.	.	.	.	.	.	.	.	.	G	49	15.320391	0.99830	.	.	ENSG00000064199	ENST00000227135;ENST00000532692	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-21.4932	14.0841	0.64944	0.0:0.151:0.849:0.0	.	.	.	.	X	59	.	ENSP00000227135:E59X	E	+	1	0	SPA17	124056515	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.042000	0.64202	2.646000	0.89796	0.557000	0.71058	GAA	SPA17	-	pirsf_Sp17		0.343	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SPA17	HGNC	protein_coding	OTTHUMT00000387075.1	G	NM_017425		124551305	1	no_errors	ENST00000227135	ensembl	human	putative	70_37	nonsense	SNP	1.000	T	T	124551305	G	T	124551305	4	4	164	1	0	0	0	0	0	1	0	0	15001	943	33	3	181	3	SPA17	11	124551305	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1885819	124551305	10455211	440	31228										
NCAPD3	23310	genome.wustl.edu	37	chr11	134079287	134079287	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	taaaaaattctttaaaaggtGaaagatggcatttcgaattt	7	3	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:134079287G>A	ENST00000534548.2	-	5	716	c.652C>T	c.(652-654)Cac>Tac	p.H218Y		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	218					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTTAAAAGGTGAAAGATGGCA	0.333																																																	0													47	50	49					11																	134079287		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.652C>T	11.37:g.134079287G>A	ENSP00000433681:p.His218Tyr		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.H218Y	ENST00000534548.2	37	c.652	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894060	0.02491	.	.	ENSG00000151503	ENST00000534548	T	0.63913	-0.07	5.64	0.0665	0.14362	Armadillo-type fold (1);	0.736617	0.13906	N	0.354565	T	0.35158	0.0922	N	0.22421	0.69	0.09310	N	0.999999	B	0.26147	0.143	B	0.21917	0.037	T	0.27331	-1.0077	10	0.02654	T	1	-0.5497	4.3587	0.11192	0.1994:0.1072:0.5781:0.1152	.	218	P42695	CNDD3_HUMAN	Y	218	ENSP00000433681:H218Y	ENSP00000431612:H218Y	H	-	1	0	NCAPD3	133584497	0.020000	0.18652	0.034000	0.17996	0.909000	0.53808	-0.386000	0.07370	0.133000	0.18654	0.650000	0.86243	CAC	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3		0.333	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	G	NM_015261		134079287	-1	no_errors	ENST00000534548	ensembl	human	known	70_37	missense	SNP	0.033	A	A	134079287	G	A	134079287	3	1	164	1	0	0	0	0	1	0	0	0	10230	1290	45	1	3968	1	NCAPD3	11	134079287	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	9527982	134079287	927229	441	31229										
NCAPD2	9918	genome.wustl.edu	37	chr12	6626091	6626091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcagcagcccgagacaccaGagaccagttcttggatactt	10	12	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:6626091G>A	ENST00000315579.5	+	10	1884	c.1085G>A	c.(1084-1086)aGa>aAa	p.R362K	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R317K	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	362	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CGAGACACCAGAGACCAGTTC	0.527																																																	0													151	136	141					12																	6626091		2203	4300	6503	SO:0001583	missense	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1085G>A	12.37:g.6626091G>A	ENSP00000325017:p.Arg362Lys		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.R362K	ENST00000315579.5	37	c.1085	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.608572	0.96626	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.08634	3.07;3.07;3.07	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.91635	0.998;0.999;0.985	T	0.00455	-1.1729	10	0.29301	T	0.29	-14.6311	19.2601	0.93964	0.0:0.0:1.0:0.0	.	317;323;362	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	K	362;234;317;234	ENSP00000325017:R362K;ENSP00000371895:R234K;ENSP00000444417:R317K	ENSP00000325017:R362K	R	+	2	0	NCAPD2	6496352	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.933000	0.92911	2.542000	0.85734	0.462000	0.41574	AGA	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1		0.527	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	G	NM_014865		6626091	1	no_errors	ENST00000315579	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6626091	G	A	6626091	3	1	164	1	0	0	0	0	1	0	0	0	10229	942	33	1	1119	1	NCAPD2	12	6626091	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		6626091	127225804	442	31230										
DUSP16	80824	genome.wustl.edu	37	chr12	12630173	12630173	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccttaaggcccaggccagcaGacttcgtgaggtgctgctgg	14	12	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:12630173G>C	ENST00000228862.2	-	7	2223	c.1592C>G	c.(1591-1593)tCt>tGt	p.S531C	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	531					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CAGGCCAGCAGACTTCGTGAG	0.572																																					Ovarian(158;443 1896 15437 36069 46477)												0													60	66	64					12																	12630173		2203	4300	6503	SO:0001583	missense	80824			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1592C>G	12.37:g.12630173G>C	ENSP00000228862:p.Ser531Cys		Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.S531C	ENST00000228862.2	37	c.1592	CCDS8650.1	12	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929237	0.52759	.	.	ENSG00000111266	ENST00000228862	T	0.02421	4.3	4.73	4.73	0.59995	.	1.395630	0.04236	N	0.336167	T	0.07728	0.0194	L	0.50333	1.59	0.80722	D	1	P;P	0.52463	0.953;0.953	B;B	0.43754	0.43;0.43	T	0.48091	-0.9065	10	0.56958	D	0.05	.	18.2723	0.90072	0.0:0.0:1.0:0.0	.	531;531	Q9BY84;Q96N49	DUS16_HUMAN;.	C	531	ENSP00000228862:S531C	ENSP00000228862:S531C	S	-	2	0	DUSP16	12521440	1.000000	0.71417	0.927000	0.36925	0.738000	0.42128	7.875000	0.87205	2.620000	0.88729	0.655000	0.94253	TCT	DUSP16	-	NULL		0.572	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP16	HGNC	protein_coding	OTTHUMT00000400311.1	G	NM_030640		12630173	-1	no_errors	ENST00000228862	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12630173	G	C	12630173	3	2	164	1	0	0	0	0	1	0	0	0	4826	942	33	1	409	1	DUSP16	12	12630173	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6004082	12630173	121221722	443	31231										
GUCY2C	2984	genome.wustl.edu	37	chr12	14794077	14794077	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgcaggatgatctcctgtgcGatgatcccatagctgtacac	10	12	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:14794077G>A	ENST00000261170.3	-	18	2143	c.2007C>T	c.(2005-2007)atC>atT	p.I669I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCTCCTGTGCGATGATCCCAT	0.493																																																	0													152	113	126					12																	14794077		2203	4300	6503	SO:0001819	synonymous_variant	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2007C>T	12.37:g.14794077G>A			B2RMY6	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.I669	ENST00000261170.3	37	c.2007	CCDS8664.1	12																																																																																			GUCY2C	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.493	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	G			14794077	-1	no_errors	ENST00000261170	ensembl	human	known	70_37	silent	SNP	0.521	A	A	14794077	G	A	14794077	2	1	164	1	0	0	0	0	0	0	0	1	6916	1048	37	1		1	GUCY2C	12	14794077	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2163904	14794077	119057818	444	31232										
ERP27	121506	genome.wustl.edu	37	chr12	15068496	15068496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaacttctgctgtgggcagtGtatcccactcgtcatctaga	9	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:15068496G>T	ENST00000266397.2	-	6	1274	c.701C>A	c.(700-702)aCa>aAa	p.T234K	ERP27_ENST00000540097.1_Missense_Mutation_p.T133K|ERP27_ENST00000544881.1_5'Flank	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	234						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TGTGGGCAGTGTATCCCACTC	0.418																																																	0													123	118	120					12																	15068496		2203	4300	6503	SO:0001583	missense	121506			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.701C>A	12.37:g.15068496G>T	ENSP00000266397:p.Thr234Lys			Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.T234K	ENST00000266397.2	37	c.701	CCDS8670.1	12	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305360	0.40795	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.30448	1.53;1.53	4.79	3.89	0.44902	Thioredoxin-like fold (1);	0.505274	0.22472	N	0.059616	T	0.31009	0.0783	L	0.57536	1.79	0.09310	N	1	P	0.43231	0.801	B	0.43360	0.417	T	0.11348	-1.0591	10	0.32370	T	0.25	-14.3259	9.0198	0.36193	0.0978:0.0:0.9022:0.0	.	234	Q96DN0	ERP27_HUMAN	K	234;133	ENSP00000266397:T234K;ENSP00000440573:T133K	ENSP00000266397:T234K	T	-	2	0	ERP27	14959763	0.019000	0.18553	0.028000	0.17463	0.008000	0.06430	1.860000	0.39428	1.616000	0.50265	0.655000	0.94253	ACA	ERP27	-	superfamily_Thioredoxin-like_fold		0.418	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	G	NM_152321		15068496	-1	no_errors	ENST00000266397	ensembl	human	known	70_37	missense	SNP	0.035	T	T	15068496	G	T	15068496	3	4	164	1	0	0	0	0	1	0	0	0	5253	1377	48	4	128	4	ERP27	12	15068496	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	274419	15068496	118783399	445	31233										
LRRK2	120892	genome.wustl.edu	37	chr12	40715870	40715870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccaaacagaatgtattggcGacaaggcatttacttaaatt	7	8	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:40715870G>A	ENST00000298910.7	+	36	5262	c.5204G>A	c.(5203-5205)cGa>cAa	p.R1735Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1735					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGTATTGGCGACAAGGCATT	0.368																																																	0													82	83	83					12																	40715870		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5204G>A	12.37:g.40715870G>A	ENSP00000298910:p.Arg1735Gln		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.R1735Q	ENST00000298910.7	37	c.5204	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501953	0.85176	.	.	ENSG00000188906	ENST00000298910	T	0.73469	-0.75	5.35	5.35	0.76521	.	0.053432	0.64402	D	0.000001	T	0.75838	0.3904	N	0.13235	0.315	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.67548	0.934;0.952	T	0.76189	-0.3050	10	0.33141	T	0.24	.	19.0555	0.93062	0.0:0.0:1.0:0.0	.	1735;1735	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	1735	ENSP00000298910:R1735Q	ENSP00000298910:R1735Q	R	+	2	0	LRRK2	39002137	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.147000	0.94646	2.516000	0.84829	0.555000	0.69702	CGA	LRRK2	-	NULL		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	G	XM_058513		40715870	1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40715870	G	A	40715870	3	1	164	1	0	0	0	0	1	0	0	0	9056	1058	37	1	5346	1	LRRK2	12	40715870	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	25647374	40715870	93136025	446	31234										
ARID2	196528	genome.wustl.edu	37	chr12	46231410	46231410	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgatgtgctgcttgtaatctCaacactcgaggtgctataca	9	9	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:46231410C>T	ENST00000334344.6	+	10	1422	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S46L|ARID2_ENST00000422737.1_Missense_Mutation_p.S268L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	417					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTTGTAATCTCAACACTCGAG	0.393			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													129	119	122					12																	46231410		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1250C>T	12.37:g.46231410C>T	ENSP00000335044:p.Ser417Leu		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S417L	ENST00000334344.6	37	c.1250	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785545	0.49997	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.49432	0.78;0.78	5.29	5.29	0.74685	.	0.076649	0.53938	D	0.000055	T	0.52677	0.1749	L	0.44542	1.39	0.80722	D	1	D;B;D	0.54964	0.969;0.355;0.958	P;B;P	0.50934	0.654;0.223;0.549	T	0.49844	-0.8896	10	0.39692	T	0.17	-11.1461	18.9364	0.92588	0.0:1.0:0.0:0.0	.	417;268;417	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	L	417;268;46	ENSP00000335044:S417L;ENSP00000415650:S268L	ENSP00000335044:S417L	S	+	2	0	ARID2	44517677	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.999000	0.70665	2.476000	0.83614	0.305000	0.20034	TCA	ARID2	-	superfamily_ARM-type_fold		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	C	XM_350875		46231410	1	no_errors	ENST00000334344	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46231410	C	T	46231410	3	4	164	1	0	0	0	0	1	0	0	0	915	838	29	1	1288	1	ARID2	12	46231410	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5515540	46231410	87620485	447	31235										
COL2A1	1280	genome.wustl.edu	37	chr12	48369200	48369200	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgctctcaatctggttgttGagggacttgagtgtggcatc	13	7	2	2	rs139114389	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:48369200G>C	ENST00000380518.3	-	51	3950	c.3786C>G	c.(3784-3786)ctC>ctG	p.L1262L	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.L1193L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1262	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTGGTTGTTGAGGGACTTGA	0.637																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	89	80	83		3786,3579	2.5	1	12	dbSNP_134	83	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous,coding-synonymous	COL2A1	NM_001844.4,NM_033150.2	,	0,15,6488	CC,CG,GG		0.1628,0.0227,0.1153	,	1262/1488,1193/1419	48369200	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3786C>G	12.37:g.48369200G>C			A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L1262	ENST00000380518.3	37	c.3786	CCDS41778.1	12																																																																																			COL2A1	-	smart_Fib_collagen_C		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	G	NM_001844		48369200	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	silent	SNP	1.000	C	C	48369200	G	C	48369200	2	2	164	1	0	0	0	0	0	0	0	1	3692	1277	45	1		1	COL2A1	12	48369200	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2137790	48369200	85482695	448	31236										
MLL2	8085	genome.wustl.edu	37	chr12	49433090	49433090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agggaaggaccctggccccaGgatggggccactcagcttgc	15	13	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:49433090G>A	ENST00000301067.7	-	33	8280	c.8281C>T	c.(8281-8283)Ctg>Ttg	p.L2761L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2761					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTGGCCCCAGGATGGGGCCA	0.602																																																	0													33	39	37					12																	49433090		1858	4095	5953	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8281C>T	12.37:g.49433090G>A			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L2761	ENST00000301067.7	37	c.8281	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49433090	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	0.001	A	A	49433090	G	A	49433090	2	1	164	1	0	0	0	0	0	0	0	1	9644	991	35	4		4	MLL2	12	49433090	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1063890	49433090	84418805	449	31237										
ACVR1B	91	genome.wustl.edu	37	chr12	52379000	52379000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcctggaattgctcatcgagActtaaagtcaaagaacattc	8	9	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:52379000A>G	ENST00000257963.4	+	6	1081	c.1004A>G	c.(1003-1005)gAc>gGc	p.D335G	ACVR1B_ENST00000426655.2_Missense_Mutation_p.D335G|ACVR1B_ENST00000542485.1_Missense_Mutation_p.D283G|ACVR1B_ENST00000563121.1_3'UTR|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000541224.1_Missense_Mutation_p.D376G|ACVR1B_ENST00000415850.2_Missense_Mutation_p.D335G	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCTCATCGAGACTTAAAGTCA	0.443																																																	0													85	81	82					12																	52379000		2203	4300	6503	SO:0001583	missense	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1004A>G	12.37:g.52379000A>G	ENSP00000257963:p.Asp335Gly		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D335G	ENST00000257963.4	37	c.1004	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617914	0.87359	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	4.76	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	H	0.99565	4.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;0.999;1.0	D	0.99425	1.0934	10	0.87932	D	0	.	14.7556	0.69560	1.0:0.0:0.0:0.0	.	376;335;335;335	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	G	335;376;335;335;283	ENSP00000257963:D335G;ENSP00000442656:D376G;ENSP00000390477:D335G;ENSP00000397550:D335G;ENSP00000442885:D283G	ENSP00000257963:D335G	D	+	2	0	ACVR1B	50665267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.138000	0.66242	0.460000	0.39030	GAC	ACVR1B	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.443	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	A	NM_020328		52379000	1	no_errors	ENST00000257963	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52379000	A	G	52379000	3	3	164	1	0	0	0	0	1	0	0	0	221	275	10	5	1153	5	ACVR1B	12	52379000	Missense_Mutation	SNP	A	TCGA-JX-A3Q0-01A-11D-A21Q-09	2945910	52379000	81472895	450	31238										
KRT75	9119	genome.wustl.edu	37	chr12	52825340	52825340	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcttactgcatcaaagactGagtggatgaagttgatctcc	9	9	3	4	rs371899596		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:52825340G>T	ENST00000252245.5	-	4	1077	c.857C>A	c.(856-858)tCa>tAa	p.S286*		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	286	Coil 1B.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATCAAAGACTGAGTGGATGAA	0.478																																																	0													167	143	151					12																	52825340		2203	4300	6503	SO:0001587	stop_gained	9119			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.857C>A	12.37:g.52825340G>T	ENSP00000252245:p.Ser286*		B4DQU4|Q9NSA9	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S286*	ENST00000252245.5	37	c.857	CCDS8827.1	12	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880524	0.72294	.	.	ENSG00000170454	ENST00000252245	.	.	.	5.95	2.33	0.28932	.	0.426103	0.22431	N	0.060152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	5.2271	0.15401	0.6047:0.1527:0.2426:0.0	.	.	.	.	X	286	.	ENSP00000252245:S286X	S	-	2	0	KRT75	51111607	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	0.167000	0.16602	0.519000	0.28406	-0.302000	0.09304	TCA	KRT75	-	pfam_F		0.478	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	HGNC	protein_coding	OTTHUMT00000404968.1	G	NM_004693		52825340	-1	no_errors	ENST00000252245	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	52825340	G	T	52825340	4	4	164	1	0	0	0	0	0	1	0	0	8508	1294	45	3	822	3	KRT75	12	52825340	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	446340	52825340	81026555	451	31239										
AAAS	8086	genome.wustl.edu	37	chr12	53708178	53708178	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	taaggggcttccaggccagaGacgccacatttcgctgcagc	12	13	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:53708178G>A	ENST00000209873.4	-	7	758	c.593C>T	c.(592-594)tCt>tTt	p.S198F	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Missense_Mutation_p.S74F|AAAS_ENST00000394384.3_Missense_Mutation_p.S165F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	198					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCAGGCCAGAGACGCCACATT	0.587																																																	0													77	75	75					12																	53708178		2203	4300	6503	SO:0001583	missense	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.593C>T	12.37:g.53708178G>A	ENSP00000209873:p.Ser198Phe		Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S198F	ENST00000209873.4	37	c.593	CCDS8856.1	12	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719576	0.68844	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	D;D;D;T	0.96522	-4.02;-4.04;-4.02;-0.27	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.163773	0.53938	D	0.000048	D	0.92244	0.7540	L	0.29908	0.895	0.27016	N	0.964587	B;B	0.33448	0.412;0.162	B;B	0.31614	0.133;0.121	D	0.88025	0.2771	10	0.66056	D	0.02	-15.8065	12.1174	0.53873	0.0:0.1725:0.8275:0.0	.	165;198	Q5JB47;Q9NRG9	.;AAAS_HUMAN	F	198;165;74;165	ENSP00000209873:S198F;ENSP00000377908:S165F;ENSP00000446885:S74F;ENSP00000448020:S165F	ENSP00000209873:S198F	S	-	2	0	AAAS	51994445	0.905000	0.30787	0.884000	0.34674	0.987000	0.75469	3.942000	0.56614	2.859000	0.98148	0.591000	0.81541	TCT	AAAS	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.587	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1	G			53708178	-1	no_errors	ENST00000209873	ensembl	human	known	70_37	missense	SNP	0.892	A	A	53708178	G	A	53708178	3	1	164	1	0	0	0	0	1	0	0	0	8	942	33	1	1087	1	AAAS	12	53708178	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	882838	53708178	80143717	452	31240										
SMUG1	23583	genome.wustl.edu	37	chr12	54577640	54577640	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcctcctccaggaagctctCagccaagcttccagggcagg	10	16	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:54577640C>G	ENST00000508394.2	-	2	147	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	SMUG1_ENST00000243112.5_Missense_Mutation_p.E29Q|SMUG1_ENST00000506595.1_Missense_Mutation_p.E29Q|SMUG1_ENST00000514685.1_Missense_Mutation_p.E29Q|SMUG1_ENST00000513838.1_Missense_Mutation_p.E29Q|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Missense_Mutation_p.E29Q|SMUG1_ENST00000514196.1_Missense_Mutation_p.E29Q|SMUG1_ENST00000401977.2_Missense_Mutation_p.E29Q|SMUG1_ENST00000505128.1_Missense_Mutation_p.E29Q	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	29					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						AGGAAGCTCTCAGCCAAGCTT	0.602								Base excision repair (BER), DNA glycosylases																																									0													36	34	34					12																	54577640		2203	4300	6503	SO:0001583	missense	23583			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.85G>C	12.37:g.54577640C>G	ENSP00000424191:p.Glu29Gln		A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like	p.E29Q	ENST00000508394.2	37	c.85	CCDS8874.1	12	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693370	0.15039	.	.	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000505128;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338;ENST00000507904;ENST00000503447;ENST00000504797;ENST00000506169;ENST00000503306	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.85	3.89	0.44902	Uracil-DNA glycosylase-like (2);	0.388273	0.26159	N	0.025994	T	0.21881	0.0527	N	0.16602	0.42	0.27316	N	0.957189	B;P;B	0.36990	0.011;0.577;0.433	B;B;B	0.34652	0.003;0.187;0.11	T	0.08391	-1.0724	10	0.16896	T	0.51	.	8.3714	0.32417	0.0:0.7537:0.1588:0.0875	.	29;29;29	Q53HV7;D6RAI1;Q53HV7-2	SMUG1_HUMAN;.;.	Q	29	ENSP00000421206:E29Q;ENSP00000421139:E29Q;ENSP00000421894:E29Q;ENSP00000338606:E29Q;ENSP00000424191:E29Q;ENSP00000423629:E29Q;ENSP00000243112:E29Q;ENSP00000384828:E29Q;ENSP00000425974:E29Q;ENSP00000423083:E29Q;ENSP00000423457:E29Q;ENSP00000421790:E29Q;ENSP00000427547:E29Q;ENSP00000425426:E29Q	ENSP00000243112:E29Q	E	-	1	0	SMUG1	52863907	0.156000	0.22821	1.000000	0.80357	0.908000	0.53690	0.664000	0.25068	2.675000	0.91044	0.591000	0.81541	GAG	SMUG1	-	superfamily_Uracil-DNA_glycosylase-like		0.602	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMUG1	HGNC	protein_coding	OTTHUMT00000359074.3	C	NM_014311		54577640	-1	no_errors	ENST00000337581	ensembl	human	known	70_37	missense	SNP	0.997	G	G	54577640	C	G	54577640	3	3	164	1	0	0	0	0	1	0	0	0	14848	835	29	1	735	1	SMUG1	12	54577640	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	869462	54577640	79274255	453	31241										
SILV	6490	genome.wustl.edu	37	chr12	56359789	56359789	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaggcatctttttagcaccaGatccattgtgttcttccctc	6	12	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:56359789G>A	ENST00000548747.1	-	1	669	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	PMEL_ENST00000449260.2_Silent_p.L3L|PMEL_ENST00000360714.4_Silent_p.L3L|CDK2_ENST00000553376.1_5'Flank|CDK2_ENST00000440311.2_5'Flank|PMEL_ENST00000548689.1_Intron|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000550464.1_Silent_p.L3L|PMEL_ENST00000552882.1_Silent_p.L3L|PMEL_ENST00000539511.1_Silent_p.L3L|PMEL_ENST00000548493.1_Silent_p.L3L|CDK2_ENST00000354056.4_5'Flank|CDK2_ENST00000266970.4_5'Flank|PMEL_ENST00000536427.1_Silent_p.L3L|PMEL_ENST00000550447.1_Silent_p.L3L			P40967	PMEL_HUMAN	premelanosome protein	3					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTAGCACCAGATCCATTGTG	0.498																																																	0													266	225	239					12																	56359789		2203	4300	6503	SO:0001819	synonymous_variant	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.7C>T	12.37:g.56359789G>A			B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.L3	ENST00000548747.1	37	c.7	CCDS8897.1	12																																																																																			PMEL	-	NULL		0.498	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	G	NM_006928		56359789	-1	no_errors	ENST00000360714	ensembl	human	known	70_37	silent	SNP	0.000	A	A	56359789	G	A	56359789	2	1	164	1	0	0	0	0	0	0	0	1	14352	933	33	1		1	SILV	12	56359789	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1782149	56359789	77492106	454	31242										
NAB2	4665	genome.wustl.edu	37	chr12	57483098	57483098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agccgagcagccgccgggcgGaggggacagcgcccgccgga	19	15	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:57483098G>A	ENST00000300131.3	+	1	422	c.44G>A	c.(43-45)gGa>gAa	p.G15E	NAB2_ENST00000342556.6_Missense_Mutation_p.G15E|TMEM194A_ENST00000553654.1_5'Flank|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.G15E	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	15					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCGCCGGGCGGAGGGGACAGC	0.711																																																	0													7	9	8					12																	57483098		2132	4194	6326	SO:0001583	missense	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.44G>A	12.37:g.57483098G>A	ENSP00000300131:p.Gly15Glu		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.G15E	ENST00000300131.3	37	c.44	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888706	0.52014	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	3.96	3.96	0.45880	Nab, N-terminal (1);	0.361928	0.20100	N	0.099251	T	0.39600	0.1084	N	0.08118	0	0.31758	N	0.633723	D	0.76494	0.999	D	0.71184	0.972	T	0.39292	-0.9621	9	0.27785	T	0.31	-1.8133	11.3775	0.49737	0.0:0.0:1.0:0.0	.	15	Q15742	NAB2_HUMAN	E	15	.	ENSP00000300131:G15E	G	+	2	0	NAB2	55769365	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.131000	0.42074	2.036000	0.60181	0.462000	0.41574	GGA	NAB2	-	NULL		0.711	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	G	NM_005967		57483098	1	no_errors	ENST00000300131	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57483098	G	A	57483098	3	1	164	1	0	0	0	0	1	0	0	0	10155	1174	41	1	46	1	NAB2	12	57483098	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1123309	57483098	76368797	455	31243										
MARS	4141	genome.wustl.edu	37	chr12	57884137	57884137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccagcccagccccgctgaggGaagggctgtcaccaatgagc	13	15	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:57884137G>A	ENST00000262027.5	+	6	772	c.638G>A	c.(637-639)gGa>gAa	p.G213E	ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000393797.2_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	213					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CCCGCTGAGGGAAGGGCTGTC	0.592																																																	0													76	86	82					12																	57884137		2203	4300	6503	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.638G>A	12.37:g.57884137G>A	ENSP00000262027:p.Gly213Glu		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.G213E	ENST00000262027.5	37	c.638	CCDS8942.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.126|0.126	-1.119679|-1.119679	0.01785|0.01785	.|.	.|.	ENSG00000166986|ENSG00000166986	ENST00000552371|ENST00000262027	.|T	.|0.29142	.|1.58	4.43|4.43	1.46|1.46	0.22682|0.22682	.|.	.|0.707951	.|0.13359	.|N	.|0.393814	T|T	0.19287|0.19287	0.0463|0.0463	L|L	0.29908|0.29908	0.895|0.895	0.42420|0.42420	D|D	0.992633|0.992633	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.25106	.|T	.|0.35	-5.8934|-5.8934	7.2734|7.2734	0.26271|0.26271	0.398:0.0:0.602:0.0|0.398:0.0:0.602:0.0	.|.	.|86;213	.|B4E0E9;P56192	.|.;SYMC_HUMAN	K|E	85|213	.|ENSP00000262027:G213E	.|ENSP00000262027:G213E	E|G	+|+	1|2	0|0	MARS|MARS	56170404|56170404	0.957000|0.957000	0.32711|0.32711	0.565000|0.565000	0.28409|0.28409	0.008000|0.008000	0.06430|0.06430	0.561000|0.561000	0.23515|0.23515	0.552000|0.552000	0.29026|0.29026	-0.351000|-0.351000	0.07748|0.07748	GAA|GGA	MARS	-	NULL		0.592	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	G	NM_004990		57884137	1	no_errors	ENST00000262027	ensembl	human	known	70_37	missense	SNP	0.259	A	A	57884137	G	A	57884137	3	1	164	1	0	0	0	0	1	0	0	0	9339	1174	41	1	660	1	MARS	12	57884137	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	401039	57884137	75967758	456	31244										
SRGAP1	57522	genome.wustl.edu	37	chr12	64519864	64519864	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgctgtatcaccgtgcatctGaggactggtgggaaggcagg	16	8	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:64519864G>C	ENST00000355086.3	+	19	2856	c.2332G>C	c.(2332-2334)Gag>Cag	p.E778Q	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E715Q|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E755Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	778	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCGTGCATCTGAGGACTGGTG	0.522																																																	0													180	144	156					12																	64519864		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2332G>C	12.37:g.64519864G>C	ENSP00000347198:p.Glu778Gln		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E778Q	ENST00000355086.3	37	c.2332	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990360	0.54041	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.53640	0.61;0.61;0.61	5.69	5.69	0.88448	Src homology-3 domain (4);	0.000000	0.35067	U	0.003461	T	0.31575	0.0801	N	0.15975	0.35	0.49483	D	0.999797	B;B	0.06786	0.001;0.0	B;B	0.15870	0.014;0.005	T	0.10965	-1.0607	9	.	.	.	.	15.3081	0.74008	0.0:0.1393:0.8607:0.0	.	778;715	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	Q	778;755;715	ENSP00000347198:E778Q;ENSP00000350480:E755Q;ENSP00000437948:E715Q	.	E	+	1	0	SRGAP1	62806131	1.000000	0.71417	0.956000	0.39512	0.987000	0.75469	4.683000	0.61679	2.676000	0.91093	0.561000	0.74099	GAG	SRGAP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.522	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64519864	1	no_errors	ENST00000355086	ensembl	human	known	70_37	missense	SNP	0.996	C	C	64519864	G	C	64519864	3	2	164	1	0	0	0	0	1	0	0	0	15175	1291	45	1	2406	1	SRGAP1	12	64519864	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6635727	64519864	69332031	457	31245										
SRGAP1	57522	genome.wustl.edu	37	chr12	64521827	64521827	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aacaatgacagtcctgagcgGaggcgcaggcctggccatgg	15	11	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:64521827G>A	ENST00000355086.3	+	21	3251	c.2727G>A	c.(2725-2727)cgG>cgA	p.R909R	SRGAP1_ENST00000543397.1_Silent_p.R846R|SRGAP1_ENST00000357825.3_Silent_p.R886R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	909	Poly-Arg.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTCCTGAGCGGAGGCGCAGGC	0.617																																																	0													57	52	54					12																	64521827		2203	4300	6503	SO:0001819	synonymous_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2727G>A	12.37:g.64521827G>A			Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R909	ENST00000355086.3	37	c.2727	CCDS8967.1	12																																																																																			SRGAP1	-	NULL		0.617	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64521827	1	no_errors	ENST00000355086	ensembl	human	known	70_37	silent	SNP	0.961	A	A	64521827	G	A	64521827	2	1	164	1	0	0	0	0	0	0	0	1	15175	1161	41	1		1	SRGAP1	12	64521827	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1963	64521827	69330068	458	31246										
NAV3	89795	genome.wustl.edu	37	chr12	78571084	78571084	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atccatgaagccctcacaatCtgcttcagcgtaagttgctc	7	13	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:78571084C>T	ENST00000397909.2	+	27	5461	c.5288C>T	c.(5287-5289)tCt>tTt	p.S1763F	NAV3_ENST00000266692.7_Missense_Mutation_p.S1586F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1763F|NAV3_ENST00000228327.6_Missense_Mutation_p.S1763F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1763						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCTCACAATCTGCTTCAGCG	0.418										HNSCC(70;0.22)																																							0													106	96	99					12																	78571084		1887	4128	6015	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5288C>T	12.37:g.78571084C>T	ENSP00000381007:p.Ser1763Phe		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1763F	ENST00000397909.2	37	c.5288		12	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422301	0.62622	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85	5.95	5.95	0.96441	.	0.000000	0.34531	U	0.003898	D	0.97331	0.9127	L	0.59436	1.845	0.80722	D	1	D;D;P;D	0.89917	1.0;0.997;0.533;1.0	D;D;B;D	0.87578	0.99;0.994;0.185;0.998	D	0.97478	1.0045	10	0.87932	D	0	-12.9227	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1763;1586;1763;1763	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	F	1763;1763;1763;1586;377;385	ENSP00000446132:S1763F;ENSP00000381007:S1763F;ENSP00000228327:S1763F;ENSP00000266692:S1586F;ENSP00000448303:S385F	ENSP00000228327:S1763F	S	+	2	0	NAV3	77095215	1.000000	0.71417	0.300000	0.25030	0.641000	0.38312	7.575000	0.82447	2.824000	0.97209	0.655000	0.94253	TCT	NAV3	-	NULL		0.418	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78571084	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78571084	C	T	78571084	3	4	164	1	0	0	0	0	1	0	0	0	10208	913	32	1	5394	1	NAV3	12	78571084	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	14049257	78571084	55280811	459	31247										
SPIC	121599	genome.wustl.edu	37	chr12	101880137	101880137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttaggcaggaagaagctccGactgtttgaataccttcacg	10	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:101880137G>A	ENST00000551346.1	+	6	494	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	SPIC_ENST00000299272.5_Missense_Mutation_p.R112Q			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	112					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAGAAGCTCCGACTGTTTGAA	0.428																																																	0													101	99	99					12																	101880137		2203	4300	6503	SO:0001583	missense	121599			AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.335G>A	12.37:g.101880137G>A	ENSP00000448580:p.Arg112Gln			Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R112Q	ENST00000551346.1	37	c.335	CCDS9082.1	12	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005952	0.93287	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.53423	0.62;0.62	4.69	4.69	0.59074	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	N	0.25957	0.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.39800	-0.9596	10	0.05833	T	0.94	-14.9306	17.9863	0.89157	0.0:0.0:1.0:0.0	.	112	Q8N5J4	SPIC_HUMAN	Q	112	ENSP00000448580:R112Q;ENSP00000299272:R112Q	ENSP00000299272:R112Q	R	+	2	0	SPIC	100404268	1.000000	0.71417	0.996000	0.52242	0.811000	0.45836	9.180000	0.94867	2.323000	0.78572	0.650000	0.86243	CGA	SPIC	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.428	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIC	HGNC	protein_coding	OTTHUMT00000408260.1	G	NM_152323		101880137	1	no_errors	ENST00000299272	ensembl	human	known	70_37	missense	SNP	0.999	A	A	101880137	G	A	101880137	3	1	164	1	0	0	0	0	1	0	0	0	15081	1058	37	1	347	1	SPIC	12	101880137	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	23309053	101880137	31971758	460	31248										
GLT8D2	83468	genome.wustl.edu	37	chr12	104393268	104393268	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attttaaagtttatttctctCagtttggaatgttcaatcca	5	6	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:104393268C>G	ENST00000360814.4	-	6	714	c.309G>C	c.(307-309)ctG>ctC	p.L103L	GLT8D2_ENST00000548660.1_Silent_p.L103L|GLT8D2_ENST00000546436.1_Silent_p.L103L	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	103						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTATTTCTCTCAGTTTGGAAT	0.403																																																	0													140	140	140					12																	104393268		2203	4300	6503	SO:0001819	synonymous_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.309G>C	12.37:g.104393268C>G			Q96KA2	Silent	SNP	pfam_Glyco_trans_8	p.L103	ENST00000360814.4	37	c.309	CCDS9096.1	12																																																																																			GLT8D2	-	pfam_Glyco_trans_8		0.403	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	HGNC	protein_coding	OTTHUMT00000407371.1	C	NM_031302		104393268	-1	no_errors	ENST00000360814	ensembl	human	known	70_37	silent	SNP	1.000	G	G	104393268	C	G	104393268	2	3	164	1	0	0	0	0	0	0	0	1	6489	813	29	1		1	GLT8D2	12	104393268	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2513131	104393268	29458627	461	31249										
ALDH1L2	160428	genome.wustl.edu	37	chr12	105455416	105455416	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtgttcaccttgatggtctCtgccactttcacctcttcag	7	13	5	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:105455416C>T	ENST00000258494.9	-	8	1176	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.E346K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	346	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGATGGTCTCTGCCACTTTC	0.443																																																	0													208	193	198					12																	105455416		2203	4300	6503	SO:0001583	missense	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1036G>A	12.37:g.105455416C>T	ENSP00000258494:p.Glu346Lys		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.E346K	ENST00000258494.9	37	c.1036	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948454	0.53186	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.75938	-0.98;0.85	5.62	4.68	0.58851	Acyl carrier protein-like (2);	0.485200	0.23298	N	0.049713	T	0.73426	0.3585	M	0.64404	1.975	0.39772	D	0.97217	B	0.20459	0.045	B	0.32289	0.143	T	0.71941	-0.4440	10	0.42905	T	0.14	.	12.7692	0.57410	0.1199:0.749:0.1311:0.0	.	346	Q3SY69	AL1L2_HUMAN	K	346	ENSP00000258494:E346K;ENSP00000389608:E346K	ENSP00000258494:E346K	E	-	1	0	ALDH1L2	103979546	1.000000	0.71417	0.973000	0.42090	0.954000	0.61252	4.744000	0.62118	2.648000	0.89879	0.650000	0.86243	GAG	ALDH1L2	-	superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like		0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	C	XM_090294		105455416	-1	no_errors	ENST00000258494	ensembl	human	known	70_37	missense	SNP	0.968	T	T	105455416	C	T	105455416	3	4	164	1	0	0	0	0	1	0	0	0	495	922	32	1	1799	1	ALDH1L2	12	105455416	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1062148	105455416	28396479	462	31250										
KIAA1033	23325	genome.wustl.edu	37	chr12	105520052	105520052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccagagagacaagtatgttgGaatttgtggactctttgtat	11	5	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:105520052G>A	ENST00000332180.5	+	12	1037	c.950G>A	c.(949-951)gGa>gAa	p.G317E		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAGTATGTTGGAATTTGTGGA	0.303																																																	0													133	124	126					12																	105520052		1819	4074	5893	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.950G>A	12.37:g.105520052G>A	ENSP00000328062:p.Gly317Glu			Missense_Mutation	SNP	NULL	p.G317E	ENST00000332180.5	37	c.950	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317540	0.81469	.	.	ENSG00000136051	ENST00000332180	T	0.34667	1.35	5.66	5.66	0.87406	.	0.227351	0.43747	D	0.000540	T	0.56558	0.1993	M	0.79475	2.455	0.58432	D	0.999998	P;P	0.50272	0.933;0.933	P;P	0.54174	0.744;0.744	T	0.53989	-0.8360	10	0.36615	T	0.2	.	19.7416	0.96232	0.0:0.0:1.0:0.0	.	317;317	B7ZKT9;Q2M389	.;WASH7_HUMAN	E	317	ENSP00000328062:G317E	ENSP00000328062:G317E	G	+	2	0	KIAA1033	104044182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.459000	0.66685	2.642000	0.89623	0.650000	0.86243	GGA	KIAA1033	-	NULL		0.303	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	G	NM_015275		105520052	1	no_errors	ENST00000332180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105520052	G	A	105520052	3	1	164	1	0	0	0	0	1	0	0	0	8226	1174	41	1	996	1	KIAA1033	12	105520052	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	64636	105520052	28331843	463	31251										
C12orf43	64897	genome.wustl.edu	37	chr12	121454196	121454196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccaagccggcattgccgcctCgcggcaccgctccagctcct	10	20	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:121454196C>T	ENST00000288757.3	-	1	104	c.82G>A	c.(82-84)Gag>Aag	p.E28K	C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28K|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.E28K	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	28								p.E28Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637																																																	1	Substitution - Missense(1)	cervix(1)											43	43	43					12																	121454196		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.82G>A	12.37:g.121454196C>T	ENSP00000288757:p.Glu28Lys		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.E28K	ENST00000288757.3	37	c.82	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.698201|2.698201	0.48307|0.48307	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000288757;ENST00000539736|ENST00000536407	T;T|.	0.59364|.	0.35;0.27|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.046078|.	0.85682|.	D|.	0.000000|.	T|T	0.65770|0.65770	0.2723|0.2723	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;P;B|.	0.54964|.	0.969;0.895;0.427|.	P;P;B|.	0.47891|.	0.56;0.56;0.061|.	T|T	0.66176|0.66176	-0.5989|-0.5989	10|6	0.56958|0.56958	D|D	0.05|0.05	-38.6147|-38.6147	14.1151|14.1151	0.65149|0.65149	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28;28|.	G5EA44;B4DWJ9;Q96C57|.	.;.;CL043_HUMAN|.	K|Q	28|32	ENSP00000288757:E28K;ENSP00000437803:E28K|.	ENSP00000288757:E28K|ENSP00000437546:R32Q	E|R	-|-	1|2	0|0	C12orf43|C12orf43	119938579|119938579	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.058000|0.058000	0.15608|0.15608	3.546000|3.546000	0.53656|0.53656	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAG|CGA	C12orf43	-	NULL		0.637	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		C	NM_022895		121454196	-1	no_errors	ENST00000288757	ensembl	human	known	70_37	missense	SNP	0.999	T	T	121454196	C	T	121454196	3	4	164	1	0	0	0	0	1	0	0	0	1693	893	31	1	730	1	C12orf43	12	121454196	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	15934144	121454196	12397699	464	31252										
GPR109B	8843	genome.wustl.edu	37	chr12	123200213	123200213	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gttatttgaggttgggcccaGataagaggggctccatggct	15	7	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:123200213G>C	ENST00000528880.2	-	1	1226	c.1072C>G	c.(1072-1074)Ctg>Gtg	p.L358V	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	358					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GTTGGGCCCAGATAAGAGGGG	0.552																																																	0													99	106	104					12																	123200213		2203	4300	6503	SO:0001583	missense	8843			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1072C>G	12.37:g.123200213G>C	ENSP00000436714:p.Leu358Val		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.L358V	ENST00000528880.2	37	c.1072	CCDS53842.1	12	.	.	.	.	.	.	.	.	.	.	g	9.148	1.015596	0.19355	.	.	ENSG00000255398	ENST00000528880	T	0.62105	0.05	2.99	0.744	0.18353	.	.	.	.	.	T	0.48732	0.1516	L	0.44542	1.39	0.09310	N	1	B	0.19445	0.036	B	0.12837	0.008	T	0.32214	-0.9915	9	0.22109	T	0.4	.	8.3074	0.32051	0.0:0.4846:0.5154:0.0	.	358	E9PI97	.	V	358	ENSP00000436714:L358V	ENSP00000436714:L358V	L	-	1	2	HCAR3	121766166	0.012000	0.17670	0.015000	0.15790	0.147000	0.21601	0.079000	0.14782	0.514000	0.28300	0.184000	0.17185	CTG	HCAR3	-	NULL		0.552	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	HGNC	protein_coding	OTTHUMT00000387549.2	G	NM_006018		123200213	-1	no_errors	ENST00000528880	ensembl	human	known	70_37	missense	SNP	0.031	C	C	123200213	G	C	123200213	3	2	164	1	0	0	0	0	1	0	0	0	6645	933	33	1	95	1	GPR109B	12	123200213	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1746017	123200213	10651682	465	31253										
SBNO1	55206	genome.wustl.edu	37	chr12	123804981	123804981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agatacaggcctatttacctCagcaacgttctcagggccac	8	13	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:123804981C>T	ENST00000602398.1	-	19	2792	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	SBNO1_ENST00000602750.1_Missense_Mutation_p.E888K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E888K|SBNO1_ENST00000420886.2_Missense_Mutation_p.E889K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	889			E -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of transcription, DNA-templated (GO:0006355)			p.E888K(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTATTTACCTCAGCAACGTTC	0.398																																																	2	Substitution - Missense(2)	breast(2)											99	99	99					12																	123804981		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2665G>A	12.37:g.123804981C>T	ENSP00000473665:p.Glu889Lys		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.E889K	ENST00000602398.1	37	c.2665	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.768338	0.96914	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.61627	0.09;0.09	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.84633	0.5515	H	0.95950	3.745	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.80764	0.994;0.99	D	0.88852	0.3320	10	0.72032	D	0.01	-26.9781	19.8879	0.96917	0.0:1.0:0.0:0.0	.	889;888	A3KN83;A3KN83-2	SBNO1_HUMAN;.	K	889;888	ENSP00000387361:E889K;ENSP00000267176:E888K	ENSP00000267176:E888K	E	-	1	0	SBNO1	122370934	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.740000	0.84986	2.693000	0.91896	0.655000	0.94253	GAG	SBNO1	-	NULL		0.398	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123804981	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123804981	C	T	123804981	3	4	164	1	0	0	0	0	1	0	0	0	13892	835	29	1	1572	1	SBNO1	12	123804981	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	604768	123804981	10046914	466	31254										
DNAH10	196385	genome.wustl.edu	37	chr12	124413920	124413920	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagtgcccgcaccctgccttCaagccgctggtctacgtgct	10	17	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:124413920C>G	ENST00000409039.3	+	70	12076	c.12051C>G	c.(12049-12051)ttC>ttG	p.F4017L	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4017	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCTGCCTTCAAGCCGCTGG	0.522																																																	0													49	50	50					12																	124413920		2038	4188	6226	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12051C>G	12.37:g.124413920C>G	ENSP00000386770:p.Phe4017Leu		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.F4017L	ENST00000409039.3	37	c.12051	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955563	0.73902	.	.	ENSG00000197653	ENST00000409039	T	0.09817	2.94	5.43	4.54	0.55810	Dynein heavy chain (1);	0.244358	0.41294	D	0.000910	T	0.36026	0.0952	M	0.88310	2.945	0.80722	D	1	D	0.59357	0.985	D	0.65233	0.933	T	0.37150	-0.9718	10	0.72032	D	0.01	.	12.4242	0.55538	0.0:0.8599:0.0:0.1401	.	4017	Q8IVF4	DYH10_HUMAN	L	4017	ENSP00000386770:F4017L	ENSP00000386770:F4017L	F	+	3	2	DNAH10	122979873	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	2.551000	0.45820	1.444000	0.47605	0.591000	0.81541	TTC	DNAH10	-	pfam_Dynein_heavy_dom		0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124413920	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124413920	C	G	124413920	3	3	164	1	0	0	0	0	1	0	0	0	4608	825	29	1	12329	1	DNAH10	12	124413920	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	608939	124413920	9437975	467	31255										
RNF17	56163	genome.wustl.edu	37	chr13	25338448	25338448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aatccagtgcaccaggtgtgGaaggagggtatccagatcat	13	8	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:25338448G>A	ENST00000255324.5	+	1	159	c.107G>A	c.(106-108)gGa>gAa	p.G36E	RNF17_ENST00000255325.6_Missense_Mutation_p.G36E|RNF17_ENST00000381921.1_Missense_Mutation_p.G36E|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	36					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACCAGGTGTGGAAGGAGGGTA	0.652																																																	0													44	33	37					13																	25338448		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.107G>A	13.37:g.25338448G>A	ENSP00000255324:p.Gly36Glu		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.G36E	ENST00000255324.5	37	c.107	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781441	0.49891	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85629	-2.01;-2.01;-2.01	4.4	1.7	0.24286	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.380544	0.19770	N	0.106448	D	0.83899	0.5354	L	0.32530	0.975	0.22803	N	0.998713	P;P;D	0.76494	0.949;0.949;0.999	P;P;D	0.64595	0.554;0.554;0.927	T	0.73030	-0.4111	10	0.87932	D	0	.	4.3598	0.11196	0.2089:0.1875:0.6036:0.0	.	36;36;36	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	E	36	ENSP00000255324:G36E;ENSP00000371346:G36E;ENSP00000255325:G36E	ENSP00000255324:G36E	G	+	2	0	RNF17	24236448	0.758000	0.28405	0.317000	0.25265	0.134000	0.20937	0.704000	0.25661	0.141000	0.18875	0.511000	0.50034	GGA	RNF17	-	pfscan_Znf_RING		0.652	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	G	NM_031994		25338448	1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	0.539	A	A	25338448	G	A	25338448	3	1	164	1	0	0	0	0	1	0	0	0	13491	1174	41	1	109	1	RNF17	13	25338448	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		25338448	89831430	468	31256										
PABPC3	5042	genome.wustl.edu	37	chr13	25670507	25670507	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcctccaactacgcgtatgtGaacttccagcatacgaagga	8	12	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:25670507G>A	ENST00000281589.3	+	1	208	c.171G>A	c.(169-171)gtG>gtA	p.V57V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	57	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGCGTATGTGAACTTCCAGC	0.547																																																	0													89	82	84					13																	25670507		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.171G>A	13.37:g.25670507G>A			Q8NHV0|Q9H086	Silent	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.V57	ENST00000281589.3	37	c.171	CCDS9311.1	13																																																																																			PABPC3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	G	NM_030979		25670507	1	no_errors	ENST00000281589	ensembl	human	known	70_37	silent	SNP	1.000	A	A	25670507	G	A	25670507	2	1	164	1	0	0	0	0	0	0	0	1	11389	1277	45	1		1	PABPC3	13	25670507	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	332059	25670507	89499371	469	31257										
C13orf33	84935	genome.wustl.edu	37	chr13	31495779	31495779	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaaatttaagctttgcatatGaattcaaagctgatgcatta	6	5	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:31495779G>A	ENST00000380482.4	+	4	908	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	195					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											CTTTGCATATGAATTCAAAGC	0.348																																																	0													95	96	96					13																	31495779		2203	4300	6503	SO:0001583	missense	84935			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.583G>A	13.37:g.31495779G>A	ENSP00000369849:p.Glu195Lys		Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	NULL	p.E195K	ENST00000380482.4	37	c.583	CCDS9338.1	13	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198862	0.58126	.	.	ENSG00000102802	ENST00000380482	T	0.43688	0.94	5.47	5.47	0.80525	.	0.229483	0.45361	D	0.000379	T	0.47911	0.1471	N	0.14661	0.345	0.39595	D	0.969641	D	0.67145	0.996	D	0.77557	0.99	T	0.52041	-0.8628	10	0.42905	T	0.14	-22.7149	16.2429	0.82424	0.0:0.0:1.0:0.0	.	195	Q5VYS4	CM033_HUMAN	K	195	ENSP00000369849:E195K	ENSP00000369849:E195K	E	+	1	0	C13orf33	30393779	1.000000	0.71417	0.998000	0.56505	0.326000	0.28443	4.164000	0.58190	2.579000	0.87056	0.563000	0.77884	GAA	MEDAG	-	NULL		0.348	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEDAG	HGNC	protein_coding	OTTHUMT00000044375.1	G	NM_032849		31495779	1	no_errors	ENST00000380482	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31495779	G	A	31495779	3	1	164	1	0	0	0	0	1	0	0	0	1731	1291	45	1	597	1	C13orf33	13	31495779	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5825272	31495779	83674099	470	31258										
C13orf33	84935	genome.wustl.edu	37	chr13	31495791	31495791	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgcatatgaattcaaagctGatgcattatttgatttcttc	6	6	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:31495791G>A	ENST00000380482.4	+	4	920	c.595G>A	c.(595-597)Gat>Aat	p.D199N	TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	199					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											ATTCAAAGCTGATGCATTATT	0.343																																																	0													97	98	98					13																	31495791		2203	4300	6503	SO:0001583	missense	84935			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.595G>A	13.37:g.31495791G>A	ENSP00000369849:p.Asp199Asn		Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	NULL	p.D199N	ENST00000380482.4	37	c.595	CCDS9338.1	13	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440685	0.63067	.	.	ENSG00000102802	ENST00000380482	T	0.69926	-0.44	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	L	0.32530	0.975	0.42829	D	0.994017	D	0.67145	0.996	D	0.79784	0.993	T	0.77351	-0.2620	10	0.87932	D	0	-23.7354	15.9427	0.79771	0.0:0.0:1.0:0.0	.	199	Q5VYS4	CM033_HUMAN	N	199	ENSP00000369849:D199N	ENSP00000369849:D199N	D	+	1	0	C13orf33	30393791	0.998000	0.40836	0.375000	0.26029	0.401000	0.30781	4.136000	0.58004	2.509000	0.84616	0.462000	0.41574	GAT	MEDAG	-	NULL		0.343	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEDAG	HGNC	protein_coding	OTTHUMT00000044375.1	G	NM_032849		31495791	1	no_errors	ENST00000380482	ensembl	human	known	70_37	missense	SNP	0.975	A	A	31495791	G	A	31495791	3	1	164	1	0	0	0	0	1	0	0	0	1731	1290	45	1	609	1	C13orf33	13	31495791	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	12	31495791	83674087	471	31259										
MAB21L1	4081	genome.wustl.edu	37	chr13	36050078	36050078	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcggtgggggagatgacctcGaggccctcgtagcgattgtc	16	10	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:36050078G>A	ENST00000379919.4	-	1	754	c.198C>T	c.(196-198)ctC>ctT	p.L66L	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	66					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AGATGACCTCGAGGCCCTCGT	0.552																																																	0													101	99	99					13																	36050078		2203	4300	6503	SO:0001819	synonymous_variant	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.198C>T	13.37:g.36050078G>A			Q6I9T5	Silent	SNP	pfam_Mab-21_dom	p.L66	ENST00000379919.4	37	c.198	CCDS9353.1	13																																																																																			MAB21L1	-	pfam_Mab-21_dom		0.552	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	G	NM_005584		36050078	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	silent	SNP	0.906	A	A	36050078	G	A	36050078	2	1	164	1	0	0	0	0	0	0	0	1	9164	1045	37	1		1	MAB21L1	13	36050078	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4554287	36050078	79119800	472	31260										
KIAA0564	23078	genome.wustl.edu	37	chr13	42144794	42144794	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gatggcatgttctgtcccttCtaacgtgtggtccccactca	9	13	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:42144794C>G	ENST00000379310.3	-	44	5487	c.5419G>C	c.(5419-5421)Gaa>Caa	p.E1807Q	MIR5006_ENST00000583027.1_RNA	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1807	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCTGTCCCTTCTAACGTGTGG	0.423																																																	0													136	121	126					13																	42144794		1925	4141	6066	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5419G>C	13.37:g.42144794C>G	ENSP00000368612:p.Glu1807Gln		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.E1807Q	ENST00000379310.3	37	c.5419	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296540	0.81025	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.14391	2.51	5.82	4.1	0.47936	von Willebrand factor, type A (3);	0.106709	0.64402	N	0.000006	T	0.38825	0.1055	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.25984	-1.0116	10	0.72032	D	0.01	.	11.5444	0.50685	0.0:0.7999:0.1325:0.0676	.	1807	A3KMH1	K0564_HUMAN	Q	1711;1807	ENSP00000368612:E1807Q	ENSP00000251030:E1711Q	E	-	1	0	KIAA0564	41042794	1.000000	0.71417	0.802000	0.32245	0.990000	0.78478	3.740000	0.55082	0.808000	0.34231	0.655000	0.94253	GAA	VWA8	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.423	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	C	NM_015058		42144794	-1	no_errors	ENST00000379310	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42144794	C	G	42144794	3	3	164	1	0	0	0	0	1	0	0	0	8205	922	32	1	306	1	KIAA0564	13	42144794	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	6094716	42144794	73025084	473	31261										
CCDC122	160857	genome.wustl.edu	37	chr13	44443506	44443506	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	actcttcctttctttgttgtCtgacattttctgtgtctgta	6	9	5	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:44443506C>T	ENST00000444614.3	-	3	265	c.7G>A	c.(7-9)Gac>Aac	p.D3N	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Missense_Mutation_p.D3N	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	3										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TCTTTGTTGTCTGACATTTTC	0.294																																																	0													172	145	154					13																	44443506		2203	4297	6500	SO:0001583	missense	160857			AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.7G>A	13.37:g.44443506C>T	ENSP00000407763:p.Asp3Asn		B2RP70|B7ZMI9|Q96MV0	Missense_Mutation	SNP	NULL	p.D3N	ENST00000444614.3	37	c.7	CCDS9390.2	13	.	.	.	.	.	.	.	.	.	.	c	9.932	1.215101	0.22373	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	T;T	0.44881	0.91;1.91	5.21	3.36	0.38483	.	1.071940	0.07178	N	0.853530	T	0.22437	0.0541	N	0.08118	0	0.09310	N	1	B;B	0.30406	0.278;0.02	B;B	0.28139	0.086;0.025	T	0.18745	-1.0327	10	0.20519	T	0.43	-30.9816	7.241	0.26096	0.0:0.7817:0.0:0.2183	.	3;3	B7ZMJ0;Q5T0U0	.;CC122_HUMAN	N	3	ENSP00000407763:D3N;ENSP00000281508:D3N	ENSP00000281508:D3N	D	-	1	0	CCDC122	43341506	0.090000	0.21635	0.719000	0.30619	0.617000	0.37484	0.341000	0.19909	1.358000	0.45922	0.454000	0.30748	GAC	CCDC122	-	NULL		0.294	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CCDC122	HGNC	protein_coding	OTTHUMT00000276172.4	C	NM_144974		44443506	-1	no_errors	ENST00000281508	ensembl	human	known	70_37	missense	SNP	0.061	T	T	44443506	C	T	44443506	3	4	164	1	0	0	0	0	1	0	0	0	2763	913	32	1	834	1	CCDC122	13	44443506	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2298712	44443506	70726372	474	31262										
C13orf18	80183	genome.wustl.edu	37	chr13	46942916	46942916	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acctctggtgagaaggaattCgaagaaatggttcttctact	10	7	3	2	rs143042360	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:46942916C>G	ENST00000429979.1	-	4	1174	c.570G>C	c.(568-570)tcG>tcC	p.S190S	KIAA0226L_ENST00000534925.1_Silent_p.S55S|KIAA0226L_ENST00000378784.4_Silent_p.S123S|KIAA0226L_ENST00000409879.2_Silent_p.S33S|KIAA0226L_ENST00000378781.3_Silent_p.S190S|KIAA0226L_ENST00000378787.3_Silent_p.S190S|KIAA0226L_ENST00000378797.2_Silent_p.S190S|KIAA0226L_ENST00000322896.6_Silent_p.S33S|KIAA0226L_ENST00000389908.3_Silent_p.S190S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	190								p.S190S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGAAGGAATTCGAAGAAATGG	0.343																																																	1	Substitution - coding silent(1)	large_intestine(1)											129	132	131					13																	46942916		2203	4300	6503	SO:0001819	synonymous_variant	80183			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.570G>C	13.37:g.46942916C>G			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	NULL	p.S190	ENST00000429979.1	37	c.570	CCDS31970.2	13																																																																																			KIAA0226L	-	NULL		0.343	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	C	NM_025113		46942916	-1	no_errors	ENST00000389908	ensembl	human	known	70_37	silent	SNP	0.985	G	G	46942916	C	G	46942916	2	3	164	1	0	0	0	0	0	0	0	1	1724	871	31	1		1	C13orf18	13	46942916	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2499410	46942916	68226962	475	31263										
RB1	5925	genome.wustl.edu	37	chr13	49030426	49030426	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgcagagacacaagcaacctCagccttccagacccagaagc	8	15	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:49030426C>A	ENST00000267163.4	+	19	2039	c.1901C>A	c.(1900-1902)tCa>tAa	p.S634*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	634	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.S634*(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CAAGCAACCTCAGCCTTCCAG	0.368		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	28	Whole gene deletion(15)|Unknown(10)|Substitution - Nonsense(3)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(3)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|liver(1)	GRCh37	CM961233	RB1	M							87	84	85					13																	49030426		2203	4300	6503	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1901C>A	13.37:g.49030426C>A	ENSP00000267163:p.Ser634*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.S634*	ENST00000267163.4	37	c.1901	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	37	6.352462	0.97498	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.97	5.97	0.96955	.	0.352176	0.27008	N	0.021389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3407	0.49531	0.0:0.8768:0.0:0.1232	.	.	.	.	X	613;634	.	ENSP00000267163:S634X	S	+	2	0	RB1	47928427	0.325000	0.24660	1.000000	0.80357	0.999000	0.98932	1.693000	0.37742	2.820000	0.97059	0.655000	0.94253	TCA	RB1	-	NULL		0.368	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			49030426	1	no_errors	ENST00000267163	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49030426	C	A	49030426	4	1	164	1	0	0	0	0	0	1	0	0	13128	838	29	3	1975	3	RB1	13	49030426	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2087510	49030426	66139452	476	31264										
PCDH17	27253	genome.wustl.edu	37	chr13	58208350	58208350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caaggtgcttgctaaggactCgggggcgcccgcgcacttgg	16	12	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:58208350C>T	ENST00000377918.3	+	1	1696	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTAAGGACTCGGGGGCGCCC	0.587																																					Melanoma(72;952 1291 1619 12849 33676)												0													39	41	40					13																	58208350		2203	4300	6503	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1670C>T	13.37:g.58208350C>T	ENSP00000367151:p.Ser557Leu		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S557L	ENST00000377918.3	37	c.1670	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203300	0.38905	.	.	ENSG00000118946	ENST00000377918	T	0.52754	0.65	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.105654	0.64402	D	0.000002	T	0.44477	0.1295	L	0.42632	1.34	0.48452	D	0.999657	B;B	0.17268	0.017;0.021	B;B	0.18263	0.012;0.021	T	0.22277	-1.0221	9	.	.	.	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	557;557	O14917-2;O14917	.;PCD17_HUMAN	L	557	ENSP00000367151:S557L	.	S	+	2	0	PCDH17	57106351	1.000000	0.71417	0.970000	0.41538	0.892000	0.51952	4.778000	0.62368	2.797000	0.96272	0.561000	0.74099	TCG	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.587	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208350	1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	0.996	T	T	58208350	C	T	58208350	3	4	164	1	0	0	0	0	1	0	0	0	11536	893	31	1	1672	1	PCDH17	13	58208350	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	9177924	58208350	56961528	477	31265										
PCDH17	27253	genome.wustl.edu	37	chr13	58208837	58208837	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcactatctccatcatcctCctagcggccatgatcaccat	5	16	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:58208837C>T	ENST00000377918.3	+	1	2183	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	719					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCATCATCCTCCTAGCGGCCA	0.607																																					Melanoma(72;952 1291 1619 12849 33676)												0													78	76	77					13																	58208837		2203	4300	6503	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2157C>T	13.37:g.58208837C>T			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L719	ENST00000377918.3	37	c.2157	CCDS31986.1	13																																																																																			PCDH17	-	NULL		0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208837	1	no_errors	ENST00000377918	ensembl	human	known	70_37	silent	SNP	1.000	T	T	58208837	C	T	58208837	2	4	164	1	0	0	0	0	0	0	0	1	11536	842	30	1		1	PCDH17	13	58208837	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	487	58208837	56961041	478	31266										
LMO7	4008	genome.wustl.edu	37	chr13	76195958	76195958	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atatgtgctcatgtctgcatCtgtgtgggttggctgtatct	12	7	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:76195958C>G	ENST00000341547.4	+	1	1389	c.129C>G	c.(127-129)atC>atG	p.I43M	RP11-29G8.3_ENST00000563635.1_RNA|RP11-173B14.5_ENST00000568302.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.I43M|LMO7_ENST00000377534.3_Missense_Mutation_p.I43M|RP11-173B14.5_ENST00000568735.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	43					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGTCTGCATCTGTGTGGGTT	0.408																																																	0													100	101	101					13																	76195958		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.129C>G	13.37:g.76195958C>G	ENSP00000342112:p.Ile43Met		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.I43M	ENST00000341547.4	37	c.129	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205022	0.58234	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534	T;T;T	0.60171	0.21;0.21;0.21	4.8	-3.81	0.04294	.	3.151060	0.01594	N	0.021727	T	0.45196	0.1330	.	.	.	0.09310	N	1	P	0.35628	0.513	B	0.30316	0.114	T	0.50996	-0.8761	9	0.87932	D	0	.	10.5342	0.44994	0.1401:0.5799:0.28:0.0	.	43	Q8WWI1-3	.	M	43	ENSP00000342112:I43M;ENSP00000349571:I43M;ENSP00000366757:I43M	ENSP00000342112:I43M	I	+	3	3	LMO7	75093959	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	0.325000	0.19628	-0.565000	0.06061	0.655000	0.94253	ATC	LMO7	-	superfamily_CH-domain		0.408	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	C	NM_005358		76195958	1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	0.000	G	G	76195958	C	G	76195958	3	3	164	1	0	0	0	0	1	0	0	0	8876	903	32	1	131	1	LMO7	13	76195958	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	17987121	76195958	38973920	479	31267										
SLITRK5	26050	genome.wustl.edu	37	chr13	88330295	88330295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccaaattcccgtgcagcccCgctgcttacactttctcccc	5	20	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:88330295C>T	ENST00000325089.6	+	2	2871	c.2652C>T	c.(2650-2652)ccC>ccT	p.P884P	SLITRK5_ENST00000400028.3_Silent_p.P643P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	884					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGTGCAGCCCCGCTGCTTACA	0.592																																																	0													54	57	56					13																	88330295		2203	4300	6503	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2652C>T	13.37:g.88330295C>T			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P884	ENST00000325089.6	37	c.2652	CCDS9465.1	13																																																																																			SLITRK5	-	NULL		0.592	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	C			88330295	1	no_errors	ENST00000325089	ensembl	human	known	70_37	silent	SNP	0.724	T	T	88330295	C	T	88330295	2	4	164	1	0	0	0	0	0	0	0	1	14776	639	23	2		2	SLITRK5	13	88330295	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	12134337	88330295	26839583	480	31268										
DNAJC3	5611	genome.wustl.edu	37	chr13	96438251	96438251	+	Missense_Mutation	SNP	A	A	C													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aatgatcagcagattcgagaAggtctagagaaagcacaaag							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:96438251A>C	ENST00000602402.1	+	10	1251	c.1134A>C	c.(1132-1134)gaA>gaC	p.E378D	DNAJC3_ENST00000376795.6_Missense_Mutation_p.E327D	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	378	Flexible linker.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGATTCGAGAAGGTCTAGAGA	0.294																																																	0													53	53	53					13																	96438251		2203	4300	6503	SO:0001583	missense	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1134A>C	13.37:g.96438251A>C	ENSP00000473631:p.Glu378Asp		Q86WT9|Q8N4N2	Missense_Mutation	SNP	pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E378D	ENST00000602402.1	37	c.1134	CCDS9479.1	13	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686276	0.47991	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);	0.043319	0.85682	D	0.000000	T	0.48466	0.1501	L	0.46885	1.475	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.48317	-0.9046	9	0.49607	T	0.09	-20.7082	7.84	0.29393	0.8066:0.0:0.0688:0.1246	.	378;378	A8KA82;Q13217	.;DNJC3_HUMAN	D	378	.	ENSP00000365991:E378D	E	+	3	2	DNAJC3	95236252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.427000	0.44740	2.311000	0.77944	0.533000	0.62120	GAA	DNAJC3	-	NULL		0.294	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	A			96438251	1	no_errors	ENST00000376795	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96438251	A	C	96438251	3	2	164	1	0	0	0	0	1	0	0	0	4657	69	3	5	1172	5	DNAJC3	13	96438251	Missense_Mutation	SNP	A	TCGA-JX-A3Q0-01A-11D-A21Q-09	8107956	96438251	18731627	481	31269	198	2								
DNAJC3	5611	genome.wustl.edu	37	chr13	96438258	96438258	+	Missense_Mutation	SNP	G	G	C													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcagattcgagaaggtctaGagaaagcacaaagattattg							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:96438258G>C	ENST00000602402.1	+	10	1258	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	DNAJC3_ENST00000376795.6_Missense_Mutation_p.E330Q	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	381	Flexible linker.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGAAGGTCTAGAGAAAGCACA	0.303																																																	0													52	52	52					13																	96438258		2203	4300	6503	SO:0001583	missense	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1141G>C	13.37:g.96438258G>C	ENSP00000473631:p.Glu381Gln		Q86WT9|Q8N4N2	Missense_Mutation	SNP	pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E381Q	ENST00000602402.1	37	c.1141	CCDS9479.1	13	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261843	0.39995	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.72	4.86	0.63082	Tetratricopeptide-like helical (1);	0.132444	0.64402	D	0.000002	T	0.35393	0.0930	N	0.04320	-0.23	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.09377	0.004;0.004	T	0.13176	-1.0519	9	0.17832	T	0.49	-18.079	16.3141	0.82909	0.0:0.0:0.8667:0.1333	.	381;381	A8KA82;Q13217	.;DNJC3_HUMAN	Q	381	.	ENSP00000365991:E381Q	E	+	1	0	DNAJC3	95236259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	1.518000	0.48934	0.655000	0.94253	GAG	DNAJC3	-	NULL		0.303	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	G			96438258	1	no_errors	ENST00000376795	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96438258	G	C	96438258	3	2	164	1	0	0	0	0	1	0	0	0	4657	943	33	1	1179	1	DNAJC3	13	96438258	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7	96438258	18731620	482	31270	198	2								
FARP1	10160	genome.wustl.edu	37	chr13	98996094	98996094	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaggtgactattttggcctcGagtttcctgatcacaaaaag	9	8	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:98996094G>C	ENST00000319562.6	+	3	515	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	FARP1_ENST00000595437.1_Missense_Mutation_p.E84Q|FARP1_ENST00000376586.2_Missense_Mutation_p.E84Q	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	84	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTTGGCCTCGAGTTTCCTGA	0.502																																																	0													159	137	145					13																	98996094		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.250G>C	13.37:g.98996094G>C	ENSP00000322926:p.Glu84Gln		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E84Q	ENST00000319562.6	37	c.250	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238002	0.79800	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.75821	-0.97;-0.97	4.58	4.58	0.56647	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.193144	0.44902	D	0.000406	T	0.72653	0.3487	N	0.10707	0.03	0.58432	D	0.999998	D;D	0.89917	1.0;0.991	D;D	0.83275	0.996;0.918	T	0.76083	-0.3089	10	0.40728	T	0.16	.	14.6493	0.68784	0.0:0.0:1.0:0.0	.	84;84	Q9Y4F1;C9JME2	FARP1_HUMAN;.	Q	84	ENSP00000365771:E84Q;ENSP00000322926:E84Q	ENSP00000322926:E84Q	E	+	1	0	FARP1	97794095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.509000	0.90529	2.279000	0.76181	0.484000	0.47621	GAG	FARP1	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.502	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	G	NM_005766		98996094	1	no_errors	ENST00000376586	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98996094	G	C	98996094	3	2	164	1	0	0	0	0	1	0	0	0	5694	1059	37	1	479	1	FARP1	13	98996094	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2557836	98996094	16173784	483	31271										
MYO16	23026	genome.wustl.edu	37	chr13	109365049	109365049	+	Silent	SNP	C	C	A													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggggcagacccccacaccctCgtctcctcgggagggtccct					rs144721835		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:109365049C>A	ENST00000357550.2	+	2	308	c.267C>A	c.(265-267)ctC>ctA	p.L89L	MYO16_ENST00000356711.2_Silent_p.L89L|MYO16_ENST00000251041.5_Silent_p.L89L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCACACCCTCGTCTCCTCGG	0.577																																																	0													111	96	101					13																	109365049		2203	4300	6503	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.267C>A	13.37:g.109365049C>A				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L89	ENST00000357550.2	37	c.267	CCDS32008.1	13																																																																																			MYO16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.577	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109365049	1	no_errors	ENST00000356711	ensembl	human	known	70_37	silent	SNP	0.000	A	A	109365049	C	A	109365049	2	1	164	1	0	0	0	0	0	0	0	1	10087	871	31	3		3	MYO16	13	109365049	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10368955	109365049	5804829	484	31272	199	2								
MYO16	23026	genome.wustl.edu	37	chr13	109365057	109365057	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccccacaccctcgtctcctCgggagggtccctgctccatc							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:109365057C>T	ENST00000357550.2	+	2	316	c.275C>T	c.(274-276)tCg>tTg	p.S92L	MYO16_ENST00000356711.2_Missense_Mutation_p.S92L|MYO16_ENST00000251041.5_Missense_Mutation_p.S92L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCGTCTCCTCGGGAGGGTCC	0.577																																																	0													103	90	94					13																	109365057		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.275C>T	13.37:g.109365057C>T	ENSP00000350160:p.Ser92Leu			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S92L	ENST00000357550.2	37	c.275	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253291	0.59212	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.51817	0.69;0.69;0.69	5.28	5.28	0.74379	Ankyrin repeat-containing domain (4);	0.000000	0.31685	U	0.007229	T	0.57961	0.2089	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.54200	-0.8329	9	.	.	.	.	14.4228	0.67196	0.0:1.0:0.0:0.0	.	92;92	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	92	ENSP00000349145:S92L;ENSP00000350160:S92L;ENSP00000251041:S92L	.	S	+	2	0	MYO16	108163058	0.998000	0.40836	0.526000	0.27913	0.058000	0.15608	5.058000	0.64300	2.473000	0.83533	0.650000	0.86243	TCG	MYO16	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.577	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109365057	1	no_errors	ENST00000356711	ensembl	human	known	70_37	missense	SNP	0.989	T	T	109365057	C	T	109365057	3	4	164	1	0	0	0	0	1	0	0	0	10087	893	31	1	281	1	MYO16	13	109365057	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8	109365057	5804821	485	31273	199	2								
COL4A1	1282	genome.wustl.edu	37	chr13	110859046	110859046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttccgggttcacctttctctCcgacccctggcatcccctta	6	18	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:110859046C>T	ENST00000375820.4	-	15	945	c.824G>A	c.(823-825)gGa>gAa	p.G275E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G275E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	275	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTTTCTCTCCGACCCCTGG	0.368																																																	0													87	95	92					13																	110859046		2203	4300	6503	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.824G>A	13.37:g.110859046C>T	ENSP00000364979:p.Gly275Glu		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G275E	ENST00000375820.4	37	c.824	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421254	0.25639	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99353	-5.77;-5.77	5.42	5.42	0.78866	.	0.068897	0.56097	D	0.000023	D	0.99111	0.9694	M	0.90705	3.14	0.58432	D	0.999996	P;P	0.48998	0.835;0.918	B;P	0.49192	0.318;0.602	D	0.99050	1.0827	10	0.46703	T	0.11	.	14.318	0.66465	0.0:0.8504:0.1496:0.0	.	275;275	F5H5K0;P02462	.;CO4A1_HUMAN	E	264;275;275;275	ENSP00000364979:G275E;ENSP00000443348:G275E	ENSP00000364973:G264E	G	-	2	0	COL4A1	109657047	0.990000	0.36364	0.967000	0.41034	0.438000	0.31896	5.339000	0.65953	2.542000	0.85734	0.573000	0.79308	GGA	COL4A1	-	pfam_Collagen		0.368	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	C			110859046	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	missense	SNP	0.816	T	T	110859046	C	T	110859046	3	4	164	1	0	0	0	0	1	0	0	0	3694	855	30	1	4337	1	COL4A1	13	110859046	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1493989	110859046	4310832	486	31274										
COL4A1	1282	genome.wustl.edu	37	chr13	110859214	110859214	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagaaactgagtactgacctGaaatccaggttcaccttttt	7	10	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:110859214G>A	ENST00000375820.4	-	14	926	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	COL4A1_ENST00000543140.1_Nonsense_Mutation_p.Q269*	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	269	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTACTGACCTGAAATCCAGGT	0.343																																																	0													65	67	67					13																	110859214		2203	4300	6503	SO:0001587	stop_gained	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.805C>T	13.37:g.110859214G>A	ENSP00000364979:p.Gln269*		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.Q269*	ENST00000375820.4	37	c.805	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635278	0.67130	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	.	.	.	5.21	5.21	0.72293	.	0.534895	0.18756	N	0.132031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	15.4999	0.75691	0.0:0.0:1.0:0.0	.	.	.	.	X	258;269;269;269	.	ENSP00000364973:Q258X	Q	-	1	0	COL4A1	109657215	0.996000	0.38824	0.799000	0.32177	0.164000	0.22412	3.006000	0.49529	2.434000	0.82447	0.573000	0.79308	CAG	COL4A1	-	NULL		0.343	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	G			110859214	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	nonsense	SNP	0.076	A	A	110859214	G	A	110859214	4	1	164	1	0	0	0	0	0	1	0	0	3694	1299	45	1	4360	1	COL4A1	13	110859214	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	168	110859214	4310664	487	31275										
RASA3	22821	genome.wustl.edu	37	chr13	114773065	114773065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggtctcttctccccgaggaCgaaatcagatccaagaacta	9	12	3	2	rs557790275		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:114773065C>T	ENST00000334062.7	-	18	1807	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RASA3_ENST00000389544.4_Silent_p.S530S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	562					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCCCGAGGACGAAATCAGAT	0.552													c|||	1	0.000199681	0	0	5008	,	,		21135	0.001		0	False		,,,				2504	0																0													114	94	101					13																	114773065		2201	4298	6499	SO:0001819	synonymous_variant	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1686G>A	13.37:g.114773065C>T			A6NL15|F8W6X8|Q8IUY2	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.S562	ENST00000334062.7	37	c.1686	CCDS32016.1	13																																																																																			RASA3	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.552	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	C	NM_007368		114773065	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	silent	SNP	0.453	T	T	114773065	C	T	114773065	2	4	164	1	0	0	0	0	0	0	0	1	13092	523	19	2		2	RASA3	13	114773065	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3913851	114773065	396813	488	31276										
RPGRIP1	57096	genome.wustl.edu	37	chr14	21780626	21780626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgaagatttggaaaaagaacGaaaattgctgaatgacaatt	9	3	0	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:21780626G>A	ENST00000400017.2	+	9	1112	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.R371Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R344Q|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R344Q	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	371					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAAAAAGAACGAAAATTGCTG	0.373																																																	0													59	55	56					14																	21780626		1836	4092	5928	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1112G>A	14.37:g.21780626G>A	ENSP00000382895:p.Arg371Gln		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R371Q	ENST00000400017.2	37	c.1112	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698602	0.68501	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.80738	-0.46;-1.41;-1.35;-1.39	4.79	4.79	0.61399	.	0.126644	0.51477	D	0.000092	T	0.77698	0.4169	M	0.77103	2.36	0.80722	D	1	P	0.42248	0.774	B	0.31337	0.128	T	0.81280	-0.1004	10	0.46703	T	0.11	-3.1759	15.2106	0.73222	0.0:0.0:1.0:0.0	.	371	Q96KN7	RPGR1_HUMAN	Q	344;344;371;371	ENSP00000450445:R344Q;ENSP00000451219:R344Q;ENSP00000382895:R371Q;ENSP00000206660:R371Q	ENSP00000206660:R371Q	R	+	2	0	RPGRIP1	20850466	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.561000	0.45905	2.646000	0.89796	0.563000	0.77884	CGA	RPGRIP1	-	NULL		0.373	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21780626	1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21780626	G	A	21780626	3	1	164	1	0	0	0	0	1	0	0	0	13579	1058	37	1	1146	1	RPGRIP1	14	21780626	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		21780626	85568914	489	31277										
NRL	4901	genome.wustl.edu	37	chr14	24550456	24550456	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgaacggctcagaggaagaGgtgggaggggtccccggacc	18	10	1	3	rs201358563	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:24550456G>C	ENST00000561028.1	-	3	1022	c.703C>G	c.(703-705)Ctc>Gtc	p.L235V	NRL_ENST00000396995.1_Missense_Mutation_p.L96V|NRL_ENST00000397002.2_Missense_Mutation_p.L235V|NRL_ENST00000560550.1_Missense_Mutation_p.L96V|NRL_ENST00000396997.1_Missense_Mutation_p.L235V			P54845	NRL_HUMAN	neural retina leucine zipper	235					positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CAGAGGAAGAGGTGGGAGGGG	0.701																																																	0													4	5	4					14																	24550456		2018	4019	6037	SO:0001583	missense	4901				CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.703C>G	14.37:g.24550456G>C	ENSP00000454062:p.Leu235Val		A8MX14|Q53XD0	Missense_Mutation	SNP	pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L235V	ENST00000561028.1	37	c.703	CCDS9608.1	14	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568140	0.28003	.	.	ENSG00000129535	ENST00000397002;ENST00000396997;ENST00000396995	D;D;D	0.97710	-4.5;-4.5;-1.71	5.0	0.37	0.16160	.	0.469026	0.18274	N	0.146224	D	0.93612	0.7960	L	0.29908	0.895	0.25117	N	0.990676	B	0.12013	0.005	B	0.16289	0.015	D	0.88036	0.2778	10	0.72032	D	0.01	-1.4189	8.7165	0.34414	0.7208:0.0:0.2792:0.0	.	235	P54845	NRL_HUMAN	V	235;235;96	ENSP00000380197:L235V;ENSP00000380193:L235V;ENSP00000380191:L96V	ENSP00000337023:L235V	L	-	1	0	NRL	23620296	0.418000	0.25440	0.990000	0.47175	0.023000	0.10783	1.303000	0.33470	0.126000	0.18424	0.407000	0.27541	CTC	NRL	-	NULL		0.701	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRL	HGNC	protein_coding	OTTHUMT00000415595.1	G			24550456	-1	no_errors	ENST00000396997	ensembl	human	known	70_37	missense	SNP	0.978	C	C	24550456	G	C	24550456	3	2	164	1	0	0	0	0	1	0	0	0	10680	1000	35	4	14	4	NRL	14	24550456	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2769830	24550456	82799084	490	31278										
PCK2	5106	genome.wustl.edu	37	chr14	24568910	24568910	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtgggggatgatattgcttgGatgaggtttgacagtgaagg	18	2	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:24568910G>C	ENST00000216780.4	+	6	1264	c.996G>C	c.(994-996)tgG>tgC	p.W332C	PCK2_ENST00000545054.2_Missense_Mutation_p.W198C|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.W344C|PCK2_ENST00000561286.1_Missense_Mutation_p.W198C|PCK2_ENST00000396973.4_Missense_Mutation_p.W332C|PCK2_ENST00000558096.1_Missense_Mutation_p.W198C	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	332					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ATATTGCTTGGATGAGGTTTG	0.542																																																	0													218	188	198					14																	24568910		2203	4300	6503	SO:0001583	missense	5106			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.996G>C	14.37:g.24568910G>C	ENSP00000216780:p.Trp332Cys		O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.W332C	ENST00000216780.4	37	c.996	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346249	0.61073	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.07567	3.18;3.18;3.18	5.6	3.68	0.42216	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.099660	0.85682	N	0.000000	T	0.40196	0.1107	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56414	-0.7983	10	0.87932	D	0	-10.4	13.7959	0.63171	0.0:0.2936:0.7064:0.0	.	198;332;332;332	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	C	332;332;198	ENSP00000216780:W332C;ENSP00000380171:W332C;ENSP00000441826:W198C	ENSP00000216780:W332C	W	+	3	0	PCK2	23638750	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.428000	0.97476	0.653000	0.30826	0.561000	0.74099	TGG	PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP		0.542	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	G	NM_001018073		24568910	1	no_errors	ENST00000216780	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24568910	G	C	24568910	3	2	164	1	0	0	0	0	1	0	0	0	11606	1183	41	1	1018	1	PCK2	14	24568910	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	18454	24568910	82780630	491	31279										
FITM1	161247	genome.wustl.edu	37	chr14	24601589	24601589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccgggccttcctgctcatcGaggacctgactggctcctgc	12	16	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:24601589G>A	ENST00000267426.5	+	2	725	c.436G>A	c.(436-438)Gag>Aag	p.E146K	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	146					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCTGCTCATCGAGGACCTGAC	0.701																																																	0													28	30	29					14																	24601589		2201	4298	6499	SO:0001583	missense	161247				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"fat-inducing transcript 1"	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.436G>A	14.37:g.24601589G>A	ENSP00000267426:p.Glu146Lys		Q8IUQ7	Missense_Mutation	SNP	pfam_FIT	p.E146K	ENST00000267426.5	37	c.436	CCDS9611.1	14	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642211	0.67244	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.36	5.36	0.76844	.	0.123877	0.52532	D	0.000063	T	0.74831	0.3768	M	0.75447	2.3	0.80722	D	1	D	0.67145	0.996	P	0.60473	0.875	T	0.71314	-0.4630	9	0.19147	T	0.46	-12.4599	16.5899	0.84762	0.0:0.0:1.0:0.0	.	146	A5D6W6	FITM1_HUMAN	K	146	.	ENSP00000267426:E146K	E	+	1	0	FITM1	23671429	1.000000	0.71417	0.999000	0.59377	0.741000	0.42261	8.366000	0.90111	2.506000	0.84524	0.462000	0.41574	GAG	FITM1	-	pfam_FIT		0.701	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM1	HGNC	protein_coding	OTTHUMT00000257366.1	G	NM_203402		24601589	1	no_errors	ENST00000267426	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24601589	G	A	24601589	3	1	164	1	0	0	0	0	1	0	0	0	5916	1059	37	1	442	1	FITM1	14	24601589	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	32679	24601589	82747951	492	31280										
NFATC4	4776	genome.wustl.edu	37	chr14	24845656	24845656	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgcgaaactccttacctatCagaaggcttcggctatggca	9	11	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:24845656C>T	ENST00000250373.4	+	9	2354	c.2213C>T	c.(2212-2214)tCa>tTa	p.S738L	NFATC4_ENST00000554050.1_Missense_Mutation_p.S738L|NFATC4_ENST00000553469.1_Missense_Mutation_p.S770L|NFATC4_ENST00000555393.1_Missense_Mutation_p.S26L|NFATC4_ENST00000553708.1_Missense_Mutation_p.S738L|NFATC4_ENST00000556279.1_Missense_Mutation_p.S770L|NFATC4_ENST00000556169.1_Missense_Mutation_p.S726L|NFATC4_ENST00000422617.3_Missense_Mutation_p.S726L|NFATC4_ENST00000553879.1_Missense_Mutation_p.S668L|NFATC4_ENST00000413692.2_Missense_Mutation_p.S801L|NFATC4_ENST00000557767.1_Missense_Mutation_p.S26L|NFATC4_ENST00000555590.1_Missense_Mutation_p.S751L|NFATC4_ENST00000555453.1_Missense_Mutation_p.S726L|NFATC4_ENST00000554591.1_Missense_Mutation_p.S801L|NFATC4_ENST00000554473.1_Missense_Mutation_p.S273L|NFATC4_ENST00000554344.1_Missense_Mutation_p.S668L|NFATC4_ENST00000539237.2_Missense_Mutation_p.S770L|NFATC4_ENST00000554966.1_Missense_Mutation_p.S751L|NFATC4_ENST00000557451.1_Missense_Mutation_p.S668L|NFATC4_ENST00000556759.1_Missense_Mutation_p.S273L|NFATC4_ENST00000555802.1_Missense_Mutation_p.S26L|NFATC4_ENST00000554661.1_Missense_Mutation_p.S668L|NFATC4_ENST00000555167.1_Missense_Mutation_p.S273L|NFATC4_ENST00000424781.2_Missense_Mutation_p.S751L	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	738	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTTACCTATCAGAAGGCTTC	0.617																																																	0													57	61	60					14																	24845656		2203	4300	6503	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2213C>T	14.37:g.24845656C>T	ENSP00000250373:p.Ser738Leu		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S801L	ENST00000250373.4	37	c.2402	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718302	0.68844	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167;ENST00000557767;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56611	3.19;3.24;3.24;3.25;3.23;3.22;3.23;3.24;3.25;3.24;3.21;2.93;2.93;2.94;2.92;2.91;2.9;2.91;1.53;1.52;1.5;0.45;0.6	5.13	5.13	0.70059	.	0.000000	0.48286	D	0.000200	T	0.49406	0.1555	N	0.19112	0.55	0.31060	N	0.714259	P;P;P;P;P;P;P;D;D;P;P;D;P	0.56035	0.936;0.936;0.936;0.936;0.936;0.936;0.936;0.974;0.974;0.936;0.936;0.974;0.895	P;P;P;P;P;P;P;P;P;P;P;P;P	0.56343	0.636;0.725;0.725;0.725;0.725;0.725;0.725;0.796;0.796;0.725;0.725;0.796;0.535	T	0.44329	-0.9335	10	0.17369	T	0.5	-5.4644	13.9397	0.64048	0.0:1.0:0.0:0.0	.	726;726;770;770;751;751;751;801;801;726;770;801;738	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	L	801;801;751;751;751;770;770;770;738;738;738;668;668;668;726;668;726;726;273;273;273;26;26;26	ENSP00000388910:S801L;ENSP00000452039:S801L;ENSP00000451224:S751L;ENSP00000450644:S751L;ENSP00000388668:S751L;ENSP00000439350:S770L;ENSP00000452270:S770L;ENSP00000451502:S770L;ENSP00000451151:S738L;ENSP00000250373:S738L;ENSP00000450590:S738L;ENSP00000452349:S668L;ENSP00000450469:S668L;ENSP00000450733:S668L;ENSP00000451454:S726L;ENSP00000451284:S668L;ENSP00000396788:S726L;ENSP00000450686:S726L;ENSP00000450810:S273L;ENSP00000451183:S273L;ENSP00000451395:S273L;ENSP00000451801:S26L;ENSP00000451590:S26L	ENSP00000250373:S738L	S	+	2	0	NFATC4	23915496	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.476000	0.45171	2.667000	0.90743	0.561000	0.74099	TCA	NFATC4	-	NULL		0.617	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	C	NM_004554		24845656	1	no_errors	ENST00000413692	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24845656	C	T	24845656	3	4	164	1	0	0	0	0	1	0	0	0	10389	838	29	1	2440	1	NFATC4	14	24845656	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	244067	24845656	82503884	493	31281										
HECTD1	25831	genome.wustl.edu	37	chr14	31644182	31644182	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aatttctaaagaagaatcttGaggctccattttgccacaga	7	8	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:31644182G>C	ENST00000399332.1	-	4	1026	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	HECTD1_ENST00000553700.1_Missense_Mutation_p.Q180E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	180					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GAAGAATCTTGAGGCTCCATT	0.378																																																	0													98	92	94					14																	31644182		1910	4141	6051	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.538C>G	14.37:g.31644182G>C	ENSP00000382269:p.Gln180Glu		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.Q180E	ENST00000399332.1	37	c.538	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498858	0.44455	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.29397	1.57;1.57;1.57	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.050111	0.85682	D	0.000000	T	0.25901	0.0631	L	0.41236	1.265	0.80722	D	1	B	0.25007	0.116	B	0.18871	0.023	T	0.09618	-1.0666	10	0.07813	T	0.8	-4.0391	19.3108	0.94187	0.0:0.0:1.0:0.0	.	180	Q9ULT8	HECD1_HUMAN	E	180	ENSP00000450697:Q180E;ENSP00000382269:Q180E;ENSP00000452015:Q180E	ENSP00000261312:Q180E	Q	-	1	0	HECTD1	30713933	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.412000	0.97347	2.576000	0.86940	0.479000	0.44913	CAA	HECTD1	-	superfamily_ARM-type_fold		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	G			31644182	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31644182	G	C	31644182	3	2	164	1	0	0	0	0	1	0	0	0	7059	1299	45	1	7454	1	HECTD1	14	31644182	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6798526	31644182	75705358	494	31282										
HECTD1	25831	genome.wustl.edu	37	chr14	31644208	31644208	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccattttgccacagagtcttGataccacagccatagcagag	8	12	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:31644208G>A	ENST00000399332.1	-	4	1000	c.512C>T	c.(511-513)tCa>tTa	p.S171L	HECTD1_ENST00000553700.1_Missense_Mutation_p.S171L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	171					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACAGAGTCTTGATACCACAGC	0.398																																																	0													106	99	101					14																	31644208		1960	4183	6143	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.512C>T	14.37:g.31644208G>A	ENSP00000382269:p.Ser171Leu		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.S171L	ENST00000399332.1	37	c.512	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.241477	0.95272	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.66099	-0.19;-0.19;-0.19	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	M	0.73962	2.25	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.80591	-0.1314	10	0.87932	D	0	-6.2978	19.3108	0.94187	0.0:0.0:1.0:0.0	.	171	Q9ULT8	HECD1_HUMAN	L	171	ENSP00000450697:S171L;ENSP00000382269:S171L;ENSP00000452015:S171L	ENSP00000261312:S171L	S	-	2	0	HECTD1	30713959	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.412000	0.97347	2.576000	0.86940	0.479000	0.44913	TCA	HECTD1	-	superfamily_ARM-type_fold		0.398	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	G			31644208	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31644208	G	A	31644208	3	1	164	1	0	0	0	0	1	0	0	0	7059	1294	45	1	7480	1	HECTD1	14	31644208	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	26	31644208	75705332	495	31283										
PPIL5	122769	genome.wustl.edu	37	chr14	50074299	50074299	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagtaagaattttccatattCcttggaacatcttcagactt	5	8	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:50074299C>G	ENST00000298288.6	+	3	788	c.464C>G	c.(463-465)tCc>tGc	p.S155C	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	155					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTCCATATTCCTTGGAACAT	0.363																																																	0													65	66	66					14																	50074299		2203	4300	6503	SO:0001583	missense	122769			BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"LRR-repeat protein 1"	609193	"peptidylprolyl isomerase (cyclophilin)-like 5"	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.464C>G	14.37:g.50074299C>G	ENSP00000298288:p.Ser155Cys		A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S155C	ENST00000298288.6	37	c.464	CCDS9686.1	14	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533484	0.64972	.	.	ENSG00000165501	ENST00000298288;ENST00000361579	T	0.20332	2.08	5.98	3.14	0.36123	.	0.098051	0.64402	D	0.000001	T	0.32645	0.0836	M	0.79805	2.47	0.80722	D	1	D;D	0.61697	0.975;0.99	P;P	0.48901	0.594;0.594	T	0.13764	-1.0497	10	0.87932	D	0	-3.8991	9.6158	0.39690	0.1206:0.7687:0.0:0.1106	.	177;155	A8MSW2;Q96L50	.;LLR1_HUMAN	C	155;177	ENSP00000298288:S155C	ENSP00000298288:S155C	S	+	2	0	LRR1	49144049	1.000000	0.71417	0.972000	0.41901	0.947000	0.59692	4.272000	0.58908	0.405000	0.25532	0.650000	0.86243	TCC	LRR1	-	NULL		0.363	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRR1	HGNC	protein_coding	OTTHUMT00000410790.1	C	NM_203467		50074299	1	no_errors	ENST00000298288	ensembl	human	known	70_37	missense	SNP	0.999	G	G	50074299	C	G	50074299	3	3	164	1	0	0	0	0	1	0	0	0	12357	855	30	1	474	1	PPIL5	14	50074299	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	18430091	50074299	57275241	496	31284										
TRIM9	114088	genome.wustl.edu	37	chr14	51561606	51561606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggcaggatgatgggctcccGatagaaggagccgcacacgg	17	10	0	2	rs573997618		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:51561606G>A	ENST00000298355.3	-	1	1173	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	TRIM9_ENST00000338969.5_Missense_Mutation_p.R18W|TRIM9_ENST00000360392.4_Missense_Mutation_p.R18W	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	18					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ATGGGCTCCCGATAGAAGGAG	0.627													G|||	1	0.000199681	0	0	5008	,	,		14967	0		0	False		,,,				2504	0.001																0													23	28	26					14																	51561606		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.52C>T	14.37:g.51561606G>A	ENSP00000298355:p.Arg18Trp		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.R18W	ENST00000298355.3	37	c.52	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730465	0.69074	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	D;T;D	0.86432	-2.12;2.2;-2.12	5.24	3.37	0.38596	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.81942	2.565	0.48901	D	0.999723	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.971;0.99;0.948	D	0.92499	0.6007	10	0.66056	D	0.02	.	12.1853	0.54234	0.0:0.0:0.6895:0.3105	.	18;18;18	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	W	18	ENSP00000298355:R18W;ENSP00000342970:R18W;ENSP00000353561:R18W	ENSP00000298355:R18W	R	-	1	2	TRIM9	50631356	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	4.234000	0.58658	0.749000	0.32854	-0.314000	0.08810	CGG	TRIM9	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.627	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	G	NM_015163		51561606	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51561606	G	A	51561606	3	1	164	1	0	0	0	0	1	0	0	0	16580	1057	37	1	2170	1	TRIM9	14	51561606	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1487307	51561606	55787934	497	31285										
PSMA3	5684	genome.wustl.edu	37	chr14	58737187	58737187	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaagcttttgaactagaactCagctgggttggtgaatgtaa	11	5	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:58737187C>T	ENST00000216455.4	+	9	732	c.642C>T	c.(640-642)ctC>ctT	p.L214L	RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000555162.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|PSMA3_ENST00000557508.1_Silent_p.L139L|PSMA3_ENST00000412908.2_Silent_p.L207L|CTD-2002H8.2_ENST00000557322.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|RP11-349A22.5_ENST00000556225.1_RNA|RP11-349A22.5_ENST00000556002.1_RNA	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	214					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AACTAGAACTCAGCTGGGTTG	0.328																																																	0													142	140	140					14																	58737187		2203	4298	6501	SO:0001819	synonymous_variant	5684				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"Proteasome (prosome, macropain) subunits"	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.642C>T	14.37:g.58737187C>T			B2RCK6|Q86U83|Q8N1D8|Q9BS70	Silent	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.L214	ENST00000216455.4	37	c.642	CCDS9731.1	14																																																																																			PSMA3	-	pfam_Proteasome_sua/b		0.328	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1	C	NM_002788		58737187	1	no_errors	ENST00000216455	ensembl	human	known	70_37	silent	SNP	1.000	T	T	58737187	C	T	58737187	2	4	164	1	0	0	0	0	0	0	0	1	12695	813	29	1		1	PSMA3	14	58737187	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	7175581	58737187	48612353	498	31286										
PPP2R5E	5529	genome.wustl.edu	37	chr14	63888774	63888774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctggatcaaattcattgctGtcactaggagggagagttct	11	7	5	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:63888774G>A	ENST00000337537.3	-	4	995	c.393C>T	c.(391-393)gaC>gaT	p.D131D	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Silent_p.D131D|PPP2R5E_ENST00000422769.2_Silent_p.D55D	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	131					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		ATTCATTGCTGTCACTAGGAG	0.403																																																	0													150	129	136					14																	63888774		2203	4300	6503	SO:0001819	synonymous_variant	5529			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.393C>T	14.37:g.63888774G>A			A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Silent	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.D131	ENST00000337537.3	37	c.393	CCDS9758.1	14																																																																																			PPP2R5E	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.403	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5E	HGNC	protein_coding	OTTHUMT00000276973.1	G	NM_006246		63888774	-1	no_errors	ENST00000337537	ensembl	human	known	70_37	silent	SNP	1.000	A	A	63888774	G	A	63888774	2	1	164	1	0	0	0	0	0	0	0	1	12423	1368	48	4		4	PPP2R5E	14	63888774	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5151587	63888774	43460766	499	31287										
SYNE2	23224	genome.wustl.edu	37	chr14	64488655	64488655	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggttgtctgactcctgaactCtctgaattgaaaaagcaata	8	8	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:64488655C>G	ENST00000344113.4	+	37	5645	c.5433C>G	c.(5431-5433)ctC>ctG	p.L1811L	SYNE2_ENST00000554584.1_Silent_p.L1811L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.L1811L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1811					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCCTGAACTCTCTGAATTGA	0.318																																																	0													93	88	90					14																	64488655		1839	4088	5927	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5433C>G	14.37:g.64488655C>G			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1811	ENST00000344113.4	37	c.5433	CCDS41963.1	14																																																																																			SYNE2	-	NULL		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64488655	1	no_errors	ENST00000358025	ensembl	human	known	70_37	silent	SNP	1.000	G	G	64488655	C	G	64488655	2	3	164	1	0	0	0	0	0	0	0	1	15476	900	32	1		1	SYNE2	14	64488655	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	599881	64488655	42860885	500	31288										
MTHFD1	4522	genome.wustl.edu	37	chr14	64898256	64898256	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgttcttttgtagtttaatCtccacctcacaggtgacatc	6	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:64898256C>T	ENST00000545908.1	+	14	1715	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.L440F|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	440	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GTAGTTTAATCTCCACCTCAC	0.438																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												0													87	73	78					14																	64898256		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1486C>T	14.37:g.64898256C>T	ENSP00000438588:p.Leu496Phe		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.L496F	ENST00000545908.1	37	c.1486		14	.	.	.	.	.	.	.	.	.	.	C	34	5.333055	0.95758	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.87	5.87	0.94306	.	0.060958	0.64402	D	0.000002	T	0.77205	0.4096	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.996;1.0	T	0.82816	-0.0270	10	0.87932	D	0	-18.8385	20.5827	0.99408	0.0:1.0:0.0:0.0	.	496;440;440	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	F	496;440;496;420	ENSP00000438588:L496F;ENSP00000450560:L440F;ENSP00000216605:L496F;ENSP00000451309:L420F	ENSP00000216605:L440F	L	+	1	0	MTHFD1	63968009	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CTC	MTHFD1	-	pfam_Formate_THF_ligase		0.438	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	HGNC	protein_coding	OTTHUMT00000412167.1	C			64898256	1	no_errors	ENST00000216605	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64898256	C	T	64898256	3	4	164	1	0	0	0	0	1	0	0	0	9950	913	32	1	1372	1	MTHFD1	14	64898256	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	409601	64898256	42451284	501	31289										
MPP5	64398	genome.wustl.edu	37	chr14	67769170	67769170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggactctgtcatcattagccGgatagtaaaagggggtgctg	14	7	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:67769170G>A	ENST00000261681.4	+	7	1506	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	MPP5_ENST00000555925.1_Missense_Mutation_p.R248Q	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	282	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ATCATTAGCCGGATAGTAAAA	0.338																																																	0													99	103	102					14																	67769170		2203	4300	6503	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.845G>A	14.37:g.67769170G>A	ENSP00000261681:p.Arg282Gln		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.R282Q	ENST00000261681.4	37	c.845	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.517357	0.96416	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.28255	1.62;1.62	5.8	5.8	0.92144	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65463	-0.6162	10	0.72032	D	0.01	.	20.0586	0.97663	0.0:0.0:1.0:0.0	.	282	Q8N3R9	MPP5_HUMAN	Q	282;248	ENSP00000261681:R282Q;ENSP00000451488:R248Q	ENSP00000261681:R282Q	R	+	2	0	MPP5	66838923	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.367000	0.97148	2.741000	0.93983	0.650000	0.86243	CGG	MPP5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.338	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67769170	1	no_errors	ENST00000261681	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67769170	G	A	67769170	3	1	164	1	0	0	0	0	1	0	0	0	9760	1116	39	2	863	2	MPP5	14	67769170	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2870914	67769170	39580370	502	31290										
C14orf4	64207	genome.wustl.edu	37	chr14	77492957	77492957	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccagcagcgagtggtccttCttgaagcgaacctcgtaggg	13	12	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:77492957C>T	ENST00000238647.3	-	1	2077	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	393					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AGTGGTCCTTCTTGAAGCGAA	0.642																																																	0													53	43	46					14																	77492957		2203	4300	6503	SO:0001819	synonymous_variant	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1179G>A	14.37:g.77492957C>T			Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.K393	ENST00000238647.3	37	c.1179	CCDS9854.1	14																																																																																			IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.642	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	C	NM_024496		77492957	-1	no_errors	ENST00000238647	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77492957	C	T	77492957	2	4	164	1	0	0	0	0	0	0	0	1	1777	912	32	1		1	C14orf4	14	77492957	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	9723787	77492957	29856583	503	31291										
C14orf145	145508	genome.wustl.edu	37	chr14	80993257	80993257	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggtgtcatcttggtgatgctGaagagaatttctgcgaaccc	12	8	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:80993257G>A	ENST00000555265.1	-	23	3403	c.3028C>T	c.(3028-3030)Cag>Tag	p.Q1010*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q1010*|CEP128_ENST00000553717.1_5'UTR			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1010						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGGTGATGCTGAAGAGAATTT	0.353																																																	0													95	95	95					14																	80993257		2203	4300	6503	SO:0001587	stop_gained	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.3028C>T	14.37:g.80993257G>A	ENSP00000451162:p.Gln1010*		B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	NULL	p.Q1010*	ENST00000555265.1	37	c.3028	CCDS32130.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.855660|8.855660	0.98978|0.98978	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265|ENST00000556061	.|.	.|.	.|.	5.73|5.73	4.82|4.82	0.62117|0.62117	.|.	0.250948|.	0.32836|.	N|.	0.005595|.	.|T	.|0.70727	.|0.3257	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70048	.|-0.4979	.|4	0.49607|.	T|.	0.09|.	.|.	14.8169|14.8169	0.70041|0.70041	0.0:0.0:0.8545:0.1455|0.0:0.0:0.8545:0.1455	.|.	.|.	.|.	.|.	X|L	1010|75	.|.	ENSP00000281129:Q1010X|.	Q|S	-|-	1|2	0|0	CEP128|CEP128	80063010|80063010	1.000000|1.000000	0.71417|0.71417	0.105000|0.105000	0.21289|0.21289	0.397000|0.397000	0.30659|0.30659	4.121000|4.121000	0.57904|0.57904	1.375000|1.375000	0.46248|0.46248	0.650000|0.650000	0.86243|0.86243	CAG|TCA	CEP128	-	NULL		0.353	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	G	NM_152446		80993257	-1	no_errors	ENST00000281129	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	80993257	G	A	80993257	4	1	164	1	0	0	0	0	0	1	0	0	1753	1299	45	1	268	1	C14orf145	14	80993257	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3500300	80993257	26356283	504	31292										
FAM181A	90050	genome.wustl.edu	37	chr14	94391701	94391701	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggcctggggagaaaagggcGagcacagcaaagcaggtggt	18	7	0	1	rs552387444		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:94391701G>A	ENST00000267594.5	+	2	391	c.84G>A	c.(82-84)gcG>gcA	p.A28A	FAM181A_ENST00000557000.2_5'Flank|FAM181A_ENST00000557719.1_Intron|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000556222.1_5'Flank	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	28			A -> T (in dbSNP:rs10141024). {ECO:0000269|PubMed:14702039}.							cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGAAAAGGGCGAGCACAGCAA	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		21971	0		0	False		,,,				2504	0																0													76	69	71					14																	94391701		2203	4300	6503	SO:0001819	synonymous_variant	90050			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.84G>A	14.37:g.94391701G>A			B2RD39|Q96GY1	Silent	SNP	NULL	p.A28	ENST00000267594.5	37	c.84	CCDS9914.1	14																																																																																			FAM181A	-	NULL		0.532	FAM181A-001	KNOWN	basic|CCDS	protein_coding	FAM181A	HGNC	protein_coding	OTTHUMT00000412840.1	G	NM_138344		94391701	1	no_errors	ENST00000267594	ensembl	human	known	70_37	silent	SNP	0.003	A	A	94391701	G	A	94391701	2	1	164	1	0	0	0	0	0	0	0	1	5523	1045	37	1		1	FAM181A	14	94391701	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	13398444	94391701	12957839	505	31293										
SERPINA9	327657	genome.wustl.edu	37	chr14	94935613	94935613	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtcaaggccttggattatgtCtacaaccttcccttgggtct	9	11	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:94935613C>T	ENST00000380365.3	-	2	643	c.565G>A	c.(565-567)Gac>Aac	p.D189N	SERPINA9_ENST00000337425.5_Missense_Mutation_p.D207N|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Missense_Mutation_p.D109N|SERPINA9_ENST00000546329.1_Missense_Mutation_p.D171N|SERPINA9_ENST00000298845.7_Missense_Mutation_p.D107N|SERPINA9_ENST00000424550.2_Missense_Mutation_p.D58N			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	189					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGGATTATGTCTACAACCTTC	0.413																																																	0													146	143	144					14																	94935613		1888	4121	6009	SO:0001583	missense	327657			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.565G>A	14.37:g.94935613C>T	ENSP00000369723:p.Asp189Asn		B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.D207N	ENST00000380365.3	37	c.619		14	.	.	.	.	.	.	.	.	.	.	C	7.457	0.643842	0.14451	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	3.97	1.06	0.20224	Serpin domain (3);	0.395194	0.22758	N	0.055991	T	0.79661	0.4484	L	0.31476	0.935	0.09310	N	1	B;B;B;B;B	0.23735	0.09;0.04;0.033;0.002;0.077	B;B;B;B;B	0.28991	0.036;0.097;0.036;0.004;0.075	T	0.65294	-0.6203	10	0.33141	T	0.24	.	5.1942	0.15227	0.1324:0.5438:0.0:0.3239	.	171;189;109;207;107	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	N	109;107;58;207;189;171	ENSP00000414092:D109N;ENSP00000298845:D107N;ENSP00000409012:D58N;ENSP00000337133:D207N;ENSP00000369723:D189N;ENSP00000445476:D171N	ENSP00000298845:D107N	D	-	1	0	SERPINA9	94005366	0.000000	0.05858	0.008000	0.14137	0.523000	0.34469	-0.194000	0.09559	-0.006000	0.14370	0.462000	0.41574	GAC	SERPINA9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.413	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2	C	NM_175739		94935613	-1	no_errors	ENST00000337425	ensembl	human	known	70_37	missense	SNP	0.003	T	T	94935613	C	T	94935613	3	4	164	1	0	0	0	0	1	0	0	0	14125	913	32	1	704	1	SERPINA9	14	94935613	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	543912	94935613	12413927	506	31294										
C14orf68	283600	genome.wustl.edu	37	chr14	100795778	100795778	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccacccccatggacgtgatCaagtcgagactgcaggcaga	12	13	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:100795778C>G	ENST00000361529.3	+	6	801	c.723C>G	c.(721-723)atC>atG	p.I241M	SLC25A47_ENST00000557052.1_Missense_Mutation_p.I95M	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	241					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGGACGTGATCAAGTCGAGAC	0.667																																					GBM(11;1289 1351)												0													54	58	57					14																	100795778		2203	4300	6503	SO:0001583	missense	283600				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.723C>G	14.37:g.100795778C>G	ENSP00000354886:p.Ile241Met		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.I241M	ENST00000361529.3	37	c.723	CCDS9959.1	14	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117999	0.56505	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	T;T	0.81415	-1.49;-1.49	5.39	3.5	0.40072	Mitochondrial carrier domain (2);	0.215085	0.48286	D	0.000196	D	0.87845	0.6280	M	0.85299	2.745	0.46609	D	0.999124	D	0.63046	0.992	D	0.73380	0.98	D	0.87020	0.2128	10	0.87932	D	0	-1.636	5.4374	0.16488	0.0:0.6272:0.158:0.2148	.	241	Q6Q0C1	S2547_HUMAN	M	241;95	ENSP00000354886:I241M;ENSP00000451078:I95M	ENSP00000354886:I241M	I	+	3	3	SLC25A47	99865531	0.997000	0.39634	1.000000	0.80357	0.803000	0.45373	0.459000	0.21908	1.214000	0.43395	0.561000	0.74099	ATC	SLC25A47	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.667	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	HGNC	protein_coding	OTTHUMT00000414231.1	C			100795778	1	no_errors	ENST00000361529	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100795778	C	G	100795778	3	3	164	1	0	0	0	0	1	0	0	0	1782	816	29	1	745	1	C14orf68	14	100795778	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5860165	100795778	6553762	507	31295										
AHNAK2	113146	genome.wustl.edu	37	chr14	105405974	105405974	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caagcctgtgctgtcaagatCacaccttagaatatctgtgg	9	10	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:105405974C>T	ENST00000333244.5	-	7	15933	c.15814G>A	c.(15814-15816)Gat>Aat	p.D5272N	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D270N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5272						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTCAAGATCACACCTTAGA	0.522																																																	0													120	126	124					14																	105405974		2048	4203	6251	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15814G>A	14.37:g.105405974C>T	ENSP00000353114:p.Asp5272Asn		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D5272N	ENST00000333244.5	37	c.15814	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860080	0.71834	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03242	4.0;5.39	4.98	-9.86	0.00473	.	0.795957	0.10440	N	0.674423	T	0.01627	0.0052	N	0.11560	0.145	0.09310	N	1	B	0.20459	0.045	B	0.18871	0.023	T	0.45338	-0.9268	10	0.26408	T	0.33	.	8.3797	0.32463	0.0:0.3558:0.4613:0.1829	.	5272	Q8IVF2	AHNK2_HUMAN	N	270;5272	ENSP00000450998:D270N;ENSP00000353114:D5272N	ENSP00000353114:D5272N	D	-	1	0	AHNAK2	104477019	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.038000	0.03553	-1.860000	0.01154	0.561000	0.74099	GAT	AHNAK2	-	NULL		0.522	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105405974	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	T	T	105405974	C	T	105405974	3	4	164	1	0	0	0	0	1	0	0	0	415	826	29	1	1577	1	AHNAK2	14	105405974	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4610196	105405974	1943566	508	31296										
HERC2	8924	genome.wustl.edu	37	chr15	28510988	28510988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccagccggccgtagttcccGcggccccaggtgtacagctc	12	18	0	0	rs138275638	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:28510988G>A	ENST00000261609.7	-	13	1839	c.1731C>T	c.(1729-1731)cgC>cgT	p.R577R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTAGTTCCCGCGGCCCCAGG	0.627													G|||	3	0.000599042	0.0023	0	5008	,	,		18436	0		0	False		,,,				2504	0																0								G		6,4400	11.4+/-27.6	0,6,2197	51	49	49		1731	-10.8	0.7	15	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	HERC2	NM_004667.4		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		577/4835	28510988	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1731C>T	15.37:g.28510988G>A				Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.R577	ENST00000261609.7	37	c.1731	CCDS10021.1	15																																																																																			HERC2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28510988	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	silent	SNP	0.430	A	A	28510988	G	A	28510988	2	1	164	1	0	0	0	0	0	0	0	1	7078	1074	38	2		2	HERC2	15	28510988	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		28510988	74020404	509	31297										
PGBD4	161779	genome.wustl.edu	37	chr15	34395013	34395013	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctttaccggcacacctggcaGaaaagtcgatgtcagtgata	10	10	1	2	rs35595072	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:34395013G>A	ENST00000397766.2	+	1	740	c.281G>A	c.(280-282)aGa>aAa	p.R94K	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	94										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACACCTGGCAGAAAAGTCGAT	0.428																																																	0													53	50	51					15																	34395013		2201	4298	6499	SO:0001583	missense	161779			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.281G>A	15.37:g.34395013G>A	ENSP00000380872:p.Arg94Lys		A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	NULL	p.R94K	ENST00000397766.2	37	c.281	CCDS10033.1	15	.	.	.	.	.	.	.	.	.	.	g	15.39	2.820345	0.50633	.	.	ENSG00000182405	ENST00000397766	T	0.16597	2.33	1.09	-0.145	0.13436	.	0.994655	0.08133	U	0.992810	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	P	0.38565	0.637	B	0.23018	0.043	T	0.32587	-0.9901	10	0.15499	T	0.54	.	5.0202	0.14358	0.0:0.0:0.3941:0.6059	rs35595072	94	Q96DM1	PGBD4_HUMAN	K	94	ENSP00000380872:R94K	ENSP00000380872:R94K	R	+	2	0	PGBD4	32182305	0.992000	0.36948	0.047000	0.18901	0.959000	0.62525	0.020000	0.13466	-0.026000	0.13895	0.298000	0.19748	AGA	PGBD4	-	NULL		0.428	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1	G			34395013	1	no_errors	ENST00000397766	ensembl	human	known	70_37	missense	SNP	0.236	A	A	34395013	G	A	34395013	3	1	164	1	0	0	0	0	1	0	0	0	11807	942	33	1	283	1	PGBD4	15	34395013	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5884025	34395013	68136379	510	31298										
ZNF770	54989	genome.wustl.edu	37	chr15	35274573	35274573	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaatacttttttctcagattGaaagttatctaattttttac	3	5	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:35274573G>A	ENST00000356321.4	-	3	1407	c.1063C>T	c.(1063-1065)Caa>Taa	p.Q355*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	355					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCTCAGATTGAAAGTTATCT	0.338																																																	0													24	26	25					15																	35274573		2187	4293	6480	SO:0001587	stop_gained	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1063C>T	15.37:g.35274573G>A	ENSP00000348673:p.Gln355*		Q6ZMZ6|Q9NWV2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q355*	ENST00000356321.4	37	c.1063	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047021	0.55110	.	.	ENSG00000198146	ENST00000356321	.	.	.	5.54	3.61	0.41365	.	1.593180	0.03998	U	0.295941	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.1204	4.0461	0.09773	0.1263:0.2337:0.5169:0.1231	.	.	.	.	X	355	.	ENSP00000348673:Q355X	Q	-	1	0	ZNF770	33061865	0.035000	0.19736	0.249000	0.24280	0.107000	0.19398	0.755000	0.26405	1.542000	0.49330	0.650000	0.86243	CAA	ZNF770	-	NULL		0.338	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	G	NM_014106		35274573	-1	no_errors	ENST00000356321	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	35274573	G	A	35274573	4	1	164	1	0	0	0	0	0	1	0	0	18173	1299	45	1	1016	1	ZNF770	15	35274573	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	879560	35274573	67256819	511	31299										
MEIS2	4212	genome.wustl.edu	37	chr15	37188873	37188873	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgggctgtactattcttcttCtggcattaataaacctgaaa	7	8	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:37188873C>T	ENST00000561208.1	-	10	1410	c.992G>A	c.(991-993)aGa>aAa	p.R331K	MEIS2_ENST00000559085.1_Missense_Mutation_p.R318K|MEIS2_ENST00000397624.3_Missense_Mutation_p.R243K|MEIS2_ENST00000559561.1_Missense_Mutation_p.R331K|MEIS2_ENST00000382766.2_Missense_Mutation_p.R331K|MEIS2_ENST00000219869.9_Missense_Mutation_p.R185K|MEIS2_ENST00000557796.2_Missense_Mutation_p.R318K|MEIS2_ENST00000444725.1_Missense_Mutation_p.R331K|MEIS2_ENST00000338564.5_Missense_Mutation_p.R331K|MEIS2_ENST00000424352.2_Missense_Mutation_p.R331K|MEIS2_ENST00000397620.2_Missense_Mutation_p.R243K|MEIS2_ENST00000340545.5_Missense_Mutation_p.R318K|MEIS2_ENST00000559408.1_5'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	331					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TATTCTTCTTCTGGCATTAAT	0.418																																																	0													156	138	144					15																	37188873		2201	4297	6498	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.992G>A	15.37:g.37188873C>T	ENSP00000453793:p.Arg331Lys		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R331K	ENST00000561208.1	37	c.992	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785971	0.90282	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	6.16	6.16	0.99307	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99923	0.9964	H	0.99404	4.55	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.996;1.0;0.993;0.996;1.0;0.995;0.997;0.997;0.999	D;D;D;D;D;D;D;D;D;D	0.91635	0.969;0.954;0.999;0.971;0.987;0.999;0.996;0.983;0.991;0.997	D	0.96301	0.9221	10	0.72032	D	0.01	-5.7081	20.8598	0.99761	0.0:1.0:0.0:0.0	.	318;331;331;331;331;185;243;318;318;27	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98;B7Z6F6;Q6V703	.;.;MEIS2_HUMAN;.;.;.;.;.;.;.	K	331;331;331;331;331;318;318;243;185	ENSP00000341400:R331K;ENSP00000372216:R331K;ENSP00000404185:R331K;ENSP00000391887:R331K;ENSP00000339549:R318K;ENSP00000380745:R243K;ENSP00000219869:R185K	ENSP00000219869:R185K	R	-	2	0	MEIS2	34976165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	AGA	MEIS2	-	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.418	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	C	NM_170677		37188873	-1	no_errors	ENST00000561208	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37188873	C	T	37188873	3	4	164	1	0	0	0	0	1	0	0	0	9491	913	32	1	516	1	MEIS2	15	37188873	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1914300	37188873	65342519	512	31300										
VPS18	57617	genome.wustl.edu	37	chr15	41192812	41192812	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccagctcttctacaagttctCacccatcctcatccgtcaca	3	18	5	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:41192812C>T	ENST00000220509.5	+	4	2135	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	599					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TACAAGTTCTCACCCATCCTC	0.622																																																	0													80	80	80					15																	41192812		2203	4300	6503	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1796C>T	15.37:g.41192812C>T	ENSP00000220509:p.Ser599Leu		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.S599L	ENST00000220509.5	37	c.1796	CCDS10069.1	15	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653878	0.88056	.	.	ENSG00000104142	ENST00000220509	T	0.16324	2.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	M	0.87682	2.9	0.80722	D	1	P	0.42483	0.781	P	0.44732	0.459	T	0.37911	-0.9685	10	0.87932	D	0	-12.8891	20.1278	0.97990	0.0:1.0:0.0:0.0	.	599	Q9P253	VPS18_HUMAN	L	599	ENSP00000220509:S599L	ENSP00000220509:S599L	S	+	2	0	VPS18	38980104	1.000000	0.71417	0.963000	0.40424	0.867000	0.49689	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	TCA	VPS18	-	superfamily_ARM-type_fold		0.622	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	C			41192812	1	no_errors	ENST00000220509	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41192812	C	T	41192812	3	4	164	1	0	0	0	0	1	0	0	0	17225	838	29	1	1810	1	VPS18	15	41192812	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4003939	41192812	61338580	513	31301										
DMXL2	23312	genome.wustl.edu	37	chr15	51748512	51748512	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcataaatacttacagtattGatggactgggtgtgaagtca	10	5	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:51748512G>C	ENST00000251076.5	-	37	8613	c.8326C>G	c.(8326-8328)Caa>Gaa	p.Q2776E	DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2777E|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q2140E|RP11-707P17.2_ENST00000559173.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2776						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTACAGTATTGATGGACTGGG	0.269																																																	0													66	72	70					15																	51748512		2196	4292	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8326C>G	15.37:g.51748512G>C	ENSP00000251076:p.Gln2776Glu		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q2777E	ENST00000251076.5	37	c.8329	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838737	0.91117	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.01287	5.05;5.05;5.05	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.05456	0.0144	L	0.36672	1.1	0.58432	D	0.999997	P;P;D;P	0.56287	0.952;0.865;0.975;0.621	P;P;D;P	0.67103	0.718;0.759;0.949;0.525	T	0.45293	-0.9271	10	0.72032	D	0.01	.	19.0588	0.93078	0.0:0.0:1.0:0.0	.	2777;2140;2776;2777	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	E	2776;2777;2140;342	ENSP00000251076:Q2776E;ENSP00000441858:Q2777E;ENSP00000400855:Q2140E	ENSP00000251076:Q2776E	Q	-	1	0	DMXL2	49535804	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.232000	0.95325	2.718000	0.92993	0.655000	0.94253	CAA	DMXL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.269	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51748512	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51748512	G	C	51748512	3	2	164	1	0	0	0	0	1	0	0	0	4605	1299	45	1	812	1	DMXL2	15	51748512	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	10555700	51748512	50782880	514	31302										
VPS13C	54832	genome.wustl.edu	37	chr15	62207973	62207973	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attaaccaatagggactaaaGacagacagcaccatccggct	8	11	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:62207973G>C	ENST00000261517.5	-	61	8377	c.8304C>G	c.(8302-8304)gtC>gtG	p.V2768V	VPS13C_ENST00000395896.4_Silent_p.V2768V|VPS13C_ENST00000249837.3_Silent_p.V2725V|VPS13C_ENST00000395898.3_Silent_p.V2725V|RN7SL613P_ENST00000584412.1_RNA	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGGGACTAAAGACAGACAGCA	0.443																																																	0													84	79	81					15																	62207973		2203	4300	6503	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8304C>G	15.37:g.62207973G>C				Silent	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.V2768	ENST00000261517.5	37	c.8304	CCDS32257.1	15																																																																																			VPS13C	-	pfam_VPSAP		0.443	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62207973	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	silent	SNP	0.995	C	C	62207973	G	C	62207973	2	2	164	1	0	0	0	0	0	0	0	1	17222	929	33	1		1	VPS13C	15	62207973	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	10459461	62207973	40323419	515	31303										
SNAPC5	10302	genome.wustl.edu	37	chr15	66790039	66790039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccgcagcagcgtctcctcctCcttgcgcagttcctgaagcc	9	18	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:66790039C>T	ENST00000316634.5	-	1	112	c.31G>A	c.(31-33)Gag>Aag	p.E11K	SNAPC5_ENST00000566658.1_Missense_Mutation_p.E11K|SNAPC5_ENST00000307979.7_Missense_Mutation_p.E11K|SNAPC5_ENST00000563480.2_Missense_Mutation_p.E11K|SNAPC5_ENST00000395589.2_Missense_Mutation_p.E11K|MIR4512_ENST00000583257.1_RNA			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	11					gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						GTCTCCTCCTCCTTGCGCAGT	0.672											OREG0023204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70	61	64					15																	66790039		2201	4299	6500	SO:0001583	missense	10302			AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"small nuclear RNA activating complex, polypeptide 5, 19kD"			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.31G>A	15.37:g.66790039C>T	ENSP00000319597:p.Glu11Lys	1094	A8K7N6|Q96CF3	Missense_Mutation	SNP	NULL	p.E11K	ENST00000316634.5	37	c.31	CCDS10217.1	15	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801880	0.70682	.	.	ENSG00000174446	ENST00000395589;ENST00000316634;ENST00000307979	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	.	.	.	0.51767	D	0.999935	D	0.67145	0.996	D	0.77557	0.99	D	0.85450	0.1160	8	0.87932	D	0	-15.2745	18.7259	0.91713	0.0:1.0:0.0:0.0	.	11	O75971	SNPC5_HUMAN	K	11	.	ENSP00000308439:E11K	E	-	1	0	SNAPC5	64577093	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.400000	0.59709	2.517000	0.84864	0.650000	0.86243	GAG	SNAPC5	-	NULL		0.672	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC5	HGNC	protein_coding	OTTHUMT00000256905.2	C			66790039	-1	no_errors	ENST00000316634	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66790039	C	T	66790039	3	4	164	1	0	0	0	0	1	0	0	0	14868	864	30	1	277	1	SNAPC5	15	66790039	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4582066	66790039	35741353	516	31304										
LBXCOR1	390598	genome.wustl.edu	37	chr15	68122618	68122618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggagtatctcccagccaagtCctgcaaatacagacagaggt	10	11	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:68122618C>T	ENST00000380035.2	+	4	2555	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	SKOR1_ENST00000554240.1_Missense_Mutation_p.P794S|SKOR1_ENST00000554054.1_Missense_Mutation_p.P805S|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Missense_Mutation_p.P736S|SKOR1_ENST00000389002.1_Missense_Mutation_p.P789S			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	833					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCAGCCAAGTCCTGCAAATAC	0.562																																																	0													86	71	76					15																	68122618		2200	4298	6498	SO:0001583	missense	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2497C>T	15.37:g.68122618C>T	ENSP00000369374:p.Pro833Ser		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.P833S	ENST00000380035.2	37	c.2497		15	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691177	0.68271	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.65	5.65	0.86999	.	0.204155	0.42548	D	0.000692	D	0.86222	0.5881	L	0.32530	0.975	0.46356	D	0.999004	B	0.25169	0.119	B	0.32090	0.14	T	0.82894	-0.0231	10	0.51188	T	0.08	-16.8393	18.2773	0.90087	0.0:1.0:0.0:0.0	.	789	P84550-3	.	S	736;794;805;833;789	ENSP00000343200:P736S;ENSP00000451193:P794S;ENSP00000452361:P805S;ENSP00000369374:P833S;ENSP00000373654:P789S	ENSP00000343200:P736S	P	+	1	0	SKOR1	65909672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.392000	0.66272	2.648000	0.89879	0.655000	0.94253	CCT	SKOR1	-	NULL		0.562	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	C	NM_001031807		68122618	1	no_errors	ENST00000380035	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68122618	C	T	68122618	3	4	164	1	0	0	0	0	1	0	0	0	8675	855	30	1	2383	1	LBXCOR1	15	68122618	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1332579	68122618	34408774	517	31305										
NOX5	79400	genome.wustl.edu	37	chr15	69335090	69335090	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcagacccactgggccgtgGttctaagaggctgtcgagga	14	10	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:69335090G>C	ENST00000388866.3	+	10	1633	c.1592G>C	c.(1591-1593)gGt>gCt	p.G531A	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.G496A|NOX5_ENST00000260364.5_Missense_Mutation_p.G513A|NOX5_ENST00000530406.2_Missense_Mutation_p.G503A|NOX5_ENST00000448182.3_Missense_Mutation_p.G485A	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	531	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGGGCCGTGGTTCTAAGAGG	0.542																																																	0													145	120	128					15																	69335090		2200	4298	6498	SO:0001583	missense	79400			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1592G>C	15.37:g.69335090G>C	ENSP00000373518:p.Gly531Ala		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G531A	ENST00000388866.3	37	c.1592	CCDS32276.2	15	.	.	.	.	.	.	.	.	.	.	G	1.776	-0.483071	0.04383	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.94417	-2.85;-3.42;-2.85	3.42	-0.796	0.10912	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	1.364450	0.04693	N	0.414436	D	0.92864	0.7730	M	0.74467	2.265	0.09310	N	1	B;B;B	0.28128	0.167;0.201;0.167	B;B;B	0.31946	0.124;0.138;0.124	T	0.78486	-0.2185	10	0.22706	T	0.39	-0.0626	6.0583	0.19824	0.541:0.0:0.459:0.0	.	496;531;503	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	A	496;513;531;503	ENSP00000416828:G496A;ENSP00000373518:G531A;ENSP00000432440:G503A	ENSP00000373518:G531A	G	+	2	0	NOX5	67122144	0.003000	0.15002	0.006000	0.13384	0.251000	0.25915	0.220000	0.17660	-0.268000	0.09312	0.313000	0.20887	GGT	NOX5	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl		0.542	NOX5-003	KNOWN	basic|CCDS	protein_coding	NOX5	HGNC	protein_coding	OTTHUMT00000257124.2	G	NM_024505		69335090	1	no_errors	ENST00000388866	ensembl	human	known	70_37	missense	SNP	0.009	C	C	69335090	G	C	69335090	3	2	164	1	0	0	0	0	1	0	0	0	10583	1261	44	4	1663	4	NOX5	15	69335090	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1212472	69335090	33196302	518	31306										
UACA	55075	genome.wustl.edu	37	chr15	70961363	70961363	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacttctgctgaagcaccttCatattttactttcaagtctt	4	11	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:70961363C>T	ENST00000322954.6	-	16	1845	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	UACA_ENST00000379983.2_Missense_Mutation_p.E541K|UACA_ENST00000539319.1_Missense_Mutation_p.E445K|UACA_ENST00000560441.1_Missense_Mutation_p.E539K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	554					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GAAGCACCTTCATATTTTACT	0.393																																																	0													165	160	162					15																	70961363		2199	4297	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1660G>A	15.37:g.70961363C>T	ENSP00000314556:p.Glu554Lys		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.E554K	ENST00000322954.6	37	c.1660	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680003	0.68042	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.75154	-0.91;-0.87;-0.45	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000011	D	0.86585	0.5968	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.997;0.997;0.997	D	0.87957	0.2727	10	0.87932	D	0	-27.9889	18.9525	0.92645	0.0:1.0:0.0:0.0	.	445;554;554;541	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	554;541;530;445	ENSP00000314556:E554K;ENSP00000369319:E541K;ENSP00000438667:E445K	ENSP00000314556:E554K	E	-	1	0	UACA	68748417	1.000000	0.71417	0.919000	0.36401	0.019000	0.09904	7.171000	0.77595	2.476000	0.83614	0.467000	0.42956	GAA	UACA	-	NULL		0.393	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70961363	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70961363	C	T	70961363	3	4	164	1	0	0	0	0	1	0	0	0	16855	835	29	1	2606	1	UACA	15	70961363	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1626273	70961363	31570029	519	31307										
NEO1	4756	genome.wustl.edu	37	chr15	73408941	73408941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggagccggtggatacactctCagttagaggctcttctgtta	12	9	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:73408941C>T	ENST00000339362.5	+	3	638	c.191C>T	c.(190-192)tCa>tTa	p.S64L	NEO1_ENST00000261908.6_Missense_Mutation_p.S64L|NEO1_ENST00000560262.1_Missense_Mutation_p.S64L|NEO1_ENST00000558964.1_Missense_Mutation_p.S64L			Q92859	NEO1_HUMAN	neogenin 1	64	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GATACACTCTCAGTTAGAGGC	0.353																																																	0													70	74	73					15																	73408941		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.191C>T	15.37:g.73408941C>T	ENSP00000341198:p.Ser64Leu		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S64L	ENST00000339362.5	37	c.191	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190789	0.58017	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.37058	1.22;1.22	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.179529	0.49305	D	0.000144	T	0.21468	0.0517	N	0.01454	-0.855	0.49915	D	0.99983	B;B;B	0.32365	0.367;0.027;0.205	B;B;B	0.37550	0.253;0.029;0.102	T	0.29701	-1.0003	10	0.34782	T	0.22	-18.4973	20.3495	0.98807	0.0:1.0:0.0:0.0	.	64;64;64	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	L	64	ENSP00000341198:S64L;ENSP00000261908:S64L	ENSP00000261908:S64L	S	+	2	0	NEO1	71195994	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	4.452000	0.60054	2.814000	0.96858	0.591000	0.81541	TCA	NEO1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.353	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	C	NM_002499		73408941	1	no_errors	ENST00000261908	ensembl	human	known	70_37	missense	SNP	0.999	T	T	73408941	C	T	73408941	3	4	164	1	0	0	0	0	1	0	0	0	10360	838	29	1	197	1	NEO1	15	73408941	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2447578	73408941	29122451	520	31308										
PML	5371	genome.wustl.edu	37	chr15	74290717	74290717	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acgaggcccggcccctagcaGagctgcgcaaccagtcggtg	14	15	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:74290717G>A	ENST00000268058.3	+	2	598	c.502G>A	c.(502-504)Gag>Aag	p.E168K	PML_ENST00000564428.1_Missense_Mutation_p.E168K|PML_ENST00000359928.4_Missense_Mutation_p.E168K|PML_ENST00000563500.1_Missense_Mutation_p.E168K|PML_ENST00000354026.6_Missense_Mutation_p.E168K|PML_ENST00000395135.3_Missense_Mutation_p.E168K|PML_ENST00000567543.1_Missense_Mutation_p.E168K|PML_ENST00000436891.3_Missense_Mutation_p.E168K|PML_ENST00000395132.2_Missense_Mutation_p.E168K|PML_ENST00000569477.1_Missense_Mutation_p.E168K|PML_ENST00000435786.2_Missense_Mutation_p.E168K|PML_ENST00000565898.1_Missense_Mutation_p.E168K|PML_ENST00000268059.6_Missense_Mutation_p.E168K|PML_ENST00000569965.1_Missense_Mutation_p.E168K	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	168					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCCCCTAGCAGAGCTGCGCAA	0.632			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													52	48	49					15																	74290717		2198	4297	6495	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.502G>A	15.37:g.74290717G>A	ENSP00000268058:p.Glu168Lys		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E168K	ENST00000268058.3	37	c.502	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635282	0.67130	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	4.61	4.61	0.57282	.	0.207771	0.33457	N	0.004894	T	0.63271	0.2497	L	0.29908	0.895	0.33717	D	0.616551	B;P;P;P;P;D;D;D;D;D;D;B	0.76494	0.248;0.952;0.775;0.835;0.954;0.989;0.976;0.975;0.997;0.993;0.999;0.262	B;P;B;P;P;P;P;P;P;P;D;B	0.69142	0.265;0.606;0.312;0.653;0.804;0.725;0.707;0.728;0.904;0.858;0.962;0.135	T	0.71659	-0.4526	10	0.41790	T	0.15	-14.3639	14.1504	0.65381	0.0:0.0:1.0:0.0	.	118;168;168;168;168;168;168;168;168;168;168;171	Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	K	168	ENSP00000378567:E168K;ENSP00000395576:E168K;ENSP00000353004:E168K;ENSP00000394642:E168K;ENSP00000268058:E168K;ENSP00000378564:E168K;ENSP00000268059:E168K;ENSP00000315434:E168K	ENSP00000268058:E168K	E	+	1	0	PML	72077770	0.998000	0.40836	0.944000	0.38274	0.907000	0.53573	3.947000	0.56652	2.125000	0.65367	0.561000	0.74099	GAG	PML	-	NULL		0.632	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	G	NM_002675		74290717	1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	0.992	A	A	74290717	G	A	74290717	3	1	164	1	0	0	0	0	1	0	0	0	12159	943	33	1	508	1	PML	15	74290717	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	881776	74290717	28240675	521	31309										
SGK269	79834	genome.wustl.edu	37	chr15	77473482	77473482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgccctctcatgcgaatctCcatggccaacagctcttcat	6	15	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:77473482C>T	ENST00000560626.2	-	4	1262	c.787G>A	c.(787-789)Gag>Aag	p.E263K	PEAK1_ENST00000558305.1_Missense_Mutation_p.E263K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E263K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	263					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATGCGAATCTCCATGGCCAAC	0.483																																																	0													96	98	97					15																	77473482		2054	4202	6256	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.787G>A	15.37:g.77473482C>T	ENSP00000452796:p.Glu263Lys		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E263K	ENST00000560626.2	37	c.787	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752649	0.89753	.	.	ENSG00000173517	ENST00000312493	T	0.74632	-0.86	5.29	5.29	0.74685	.	0.000000	0.34002	U	0.004358	T	0.75576	0.3868	L	0.27053	0.805	0.50171	D	0.999856	D	0.60575	0.988	P	0.54759	0.76	T	0.79174	-0.1912	10	0.72032	D	0.01	-8.6502	18.9539	0.92650	0.0:1.0:0.0:0.0	.	263	Q9H792	PEAK1_HUMAN	K	263	ENSP00000309230:E263K	ENSP00000309230:E263K	E	-	1	0	AC087465.1	75260537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.666000	0.83877	2.480000	0.83734	0.557000	0.71058	GAG	PEAK1	-	NULL		0.483	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77473482	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77473482	C	T	77473482	3	4	164	1	0	0	0	0	1	0	0	0	14241	864	30	1	4469	1	SGK269	15	77473482	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3182765	77473482	25057910	522	31310										
IREB2	3658	genome.wustl.edu	37	chr15	78783062	78783062	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atatcacctgcaggaagtatCgctaggaatagtgctgccgc	11	10	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:78783062C>G	ENST00000258886.8	+	18	2432	c.2283C>G	c.(2281-2283)atC>atG	p.I761M		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	761					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CAGGAAGTATCGCTAGGAATA	0.398																																					NSCLC(200;764 2208 35157 49871 50830)												0													195	199	198					15																	78783062		2196	4293	6489	SO:0001583	missense	3658			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2283C>G	15.37:g.78783062C>G	ENSP00000258886:p.Ile761Met		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.I761M	ENST00000258886.8	37	c.2283	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449469	0.63178	.	.	ENSG00000136381	ENST00000258886	T	0.28255	1.62	6.07	-5.45	0.02616	Aconitase/3-isopropylmalate dehydratase, swivel (2);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	H	0.97051	3.93	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77365	-0.2615	10	0.87932	D	0	-14.0487	16.5189	0.84308	0.0:0.3072:0.0:0.6928	.	761	P48200	IREB2_HUMAN	M	761	ENSP00000258886:I761M	ENSP00000258886:I761M	I	+	3	3	IREB2	76570117	0.176000	0.23096	0.280000	0.24747	0.992000	0.81027	-0.651000	0.05372	-0.828000	0.04273	0.650000	0.86243	ATC	IREB2	-	superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2		0.398	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	C	NM_004136		78783062	1	no_errors	ENST00000258886	ensembl	human	known	70_37	missense	SNP	0.300	G	G	78783062	C	G	78783062	3	3	164	1	0	0	0	0	1	0	0	0	7846	874	31	1	2353	1	IREB2	15	78783062	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1309580	78783062	23748330	523	31311										
ACAN	176	genome.wustl.edu	37	chr15	89400951	89400951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agctagtggactcccttcagGaactgaactcagtggccaag	11	11	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:89400951G>A	ENST00000561243.1	+	11	5135	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	ACAN_ENST00000439576.2_Missense_Mutation_p.G1712E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1712E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1712E			P16112	PGCA_HUMAN	aggrecan	1754	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCCCTTCAGGAACTGAACTC	0.537																																																	0													170	168	168					15																	89400951		1966	4151	6117	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5135G>A	15.37:g.89400951G>A	ENSP00000453342:p.Gly1712Glu		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.G1712E	ENST00000561243.1	37	c.5135	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717972	0.68844	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.05996	3.64;3.36	5.86	5.86	0.93980	.	0.000000	0.31897	N	0.006893	T	0.26702	0.0653	M	0.72118	2.19	0.25253	N	0.989651	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.01401	-1.1364	10	0.54805	T	0.06	-16.0727	19.1747	0.93599	0.0:0.0:1.0:0.0	.	1712;1712	E7ENV9;E7EX88	.;.	E	1712;1712;1598	ENSP00000387356:G1712E;ENSP00000341615:G1712E	ENSP00000268134:G1598E	G	+	2	0	ACAN	87201955	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	7.058000	0.76676	2.775000	0.95449	0.655000	0.94253	GGA	ACAN	-	NULL		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89400951	1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89400951	G	A	89400951	3	1	164	1	0	0	0	0	1	0	0	0	117	1174	41	1	5177	1	ACAN	15	89400951	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	10617889	89400951	13130441	524	31312										
ACAN	176	genome.wustl.edu	37	chr15	89415302	89415302	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaggggacttccgctggtcaGatggacaccccatggtgagt	14	10	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:89415302G>C	ENST00000561243.1	+	14	7174	c.7174G>C	c.(7174-7176)Gat>Cat	p.D2392H	ACAN_ENST00000439576.2_Missense_Mutation_p.D2392H|ACAN_ENST00000352105.7_Missense_Mutation_p.D2354H|ACAN_ENST00000559004.1_Missense_Mutation_p.D2354H			P16112	PGCA_HUMAN	aggrecan	2277	G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGCTGGTCAGATGGACACCC	0.582																																																	0													98	102	101					15																	89415302		2174	4294	6468	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7174G>C	15.37:g.89415302G>C	ENSP00000453342:p.Asp2392His		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.D2392H	ENST00000561243.1	37	c.7174	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931490	0.73442	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.31769	1.48;1.48	5.66	5.66	0.87406	.	0.000000	0.33670	N	0.004673	T	0.55065	0.1897	H	0.98155	4.16	0.49582	D	0.999803	P;P	0.50943	0.94;0.714	B;B	0.40375	0.327;0.156	T	0.76195	-0.3048	10	0.87932	D	0	-24.0285	18.7251	0.91711	0.0:0.0:1.0:0.0	.	2354;2392	E7ENV9;E7EX88	.;.	H	2392;2354;2278	ENSP00000387356:D2392H;ENSP00000341615:D2354H	ENSP00000268134:D2278H	D	+	1	0	ACAN	87216306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.754000	0.98908	2.666000	0.90696	0.609000	0.83330	GAT	ACAN	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.582	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89415302	1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89415302	G	C	89415302	3	2	164	1	0	0	0	0	1	0	0	0	117	942	33	1	7228	1	ACAN	15	89415302	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	14351	89415302	13116090	525	31313										
LINS1	55180	genome.wustl.edu	37	chr15	101121020	101121020	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagtaccttcttgtataactCttctaaaacttcacagaaaa	3	9	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:101121020C>T	ENST00000314742.8	-	2	250	c.28G>A	c.(28-30)Gag>Aag	p.E10K	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.E10K|LINS_ENST00000560133.1_Missense_Mutation_p.E10K	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	10										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTGTATAACTCTTCTAAAACT	0.348																																																	0													31	31	31					15																	101121020		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.28G>A	15.37:g.101121020C>T	ENSP00000318423:p.Glu10Lys		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.E10K	ENST00000314742.8	37	c.28	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057208	0.36277	.	.	ENSG00000140471	ENST00000314742	T	0.20881	2.04	5.63	2.73	0.32206	.	0.539988	0.18146	N	0.150250	T	0.11580	0.0282	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.11329	0.006;0.006;0.006	T	0.24333	-1.0163	10	0.62326	D	0.03	-0.0339	11.2129	0.48808	0.0:0.2606:0.6044:0.135	.	10;10;10	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	K	10	ENSP00000318423:E10K	ENSP00000318423:E10K	E	-	1	0	LINS	98938543	0.085000	0.21516	0.123000	0.21794	0.548000	0.35241	0.911000	0.28584	0.310000	0.22990	-0.738000	0.03535	GAG	LINS	-	NULL		0.348	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	C	NM_018148		101121020	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.759	T	T	101121020	C	T	101121020	3	4	164	1	0	0	0	0	1	0	0	0	8839	922	32	1	2269	1	LINS1	15	101121020	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	11705718	101121020	1410372	526	31314										
TARSL2	123283	genome.wustl.edu	37	chr15	102197143	102197143	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acccaaaataaaattatactGagccagctgtgcatttcgta	6	9	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:102197143G>C	ENST00000335968.3	-	18	2458	c.2242C>G	c.(2242-2244)Cag>Gag	p.Q748E	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	748					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAATTATACTGAGCCAGCTGT	0.313																																																	0													75	70	71					15																	102197143		2203	4300	6503	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2242C>G	15.37:g.102197143G>C	ENSP00000338093:p.Gln748Glu		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.Q748E	ENST00000335968.3	37	c.2242	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312038	0.81358	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	D;D	0.82344	-1.6;-1.6	5.41	5.41	0.78517	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.94291	0.8166	H	0.97365	3.99	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.96100	0.9068	10	0.87932	D	0	-23.6636	16.6795	0.85288	0.0:0.0:1.0:0.0	.	748	A2RTX5	SYTC2_HUMAN	E	748;653;748	ENSP00000338093:Q748E;ENSP00000439899:Q748E	ENSP00000329291:Q653E	Q	-	1	0	TARSL2	100014666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.518000	0.98022	2.548000	0.85928	0.491000	0.48974	CAG	TARSL2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.313	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	G	NM_152334		102197143	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	missense	SNP	1.000	C	C	102197143	G	C	102197143	3	2	164	1	0	0	0	0	1	0	0	0	15591	1299	45	1	174	1	TARSL2	15	102197143	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1076123	102197143	334249	527	31315										
LUC7L	55692	genome.wustl.edu	37	chr16	242962	242962	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctcccgttccctctcctctCtcctcctcaagcgatcctga	4	21	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:242962C>G	ENST00000293872.8	-	7	850	c.740G>C	c.(739-741)aGa>aCa	p.R247T	LUC7L_ENST00000397783.1_Missense_Mutation_p.R247T|LUC7L_ENST00000397780.1_Missense_Mutation_p.R194T|LUC7L_ENST00000337351.4_Missense_Mutation_p.R247T	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	247	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTCTCCTCTCTCCTCCTCAA	0.517																																																	0													274	252	259					16																	242962		2203	4300	6503	SO:0001583	missense	55692			AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"LUC7 (S. cerevisiae)-like"				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.740G>C	16.37:g.242962C>G	ENSP00000293872:p.Arg247Thr		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	pfam_LUC7-rel	p.R247T	ENST00000293872.8	37	c.740	CCDS32348.1	16	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431442	0.43122	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780;ENST00000430864	T;T;T;T	0.59224	0.96;0.96;0.28;0.96	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.77103	2.36	0.58432	D	0.999996	P	0.47841	0.901	B	0.43809	0.432	T	0.68228	-0.5464	10	0.42905	T	0.14	.	17.5027	0.87736	0.0:1.0:0.0:0.0	.	247	Q9NQ29	LUC7L_HUMAN	T	247;247;247;46;194;161	ENSP00000337507:R247T;ENSP00000380885:R247T;ENSP00000413033:R46T;ENSP00000380882:R194T	ENSP00000293872:R247T	R	-	2	0	LUC7L	182963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.669000	0.68081	2.549000	0.85964	0.462000	0.41574	AGA	LUC7L	-	pfam_LUC7-rel		0.517	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	HGNC	protein_coding	OTTHUMT00000134239.1	C			242962	-1	no_errors	ENST00000293872	ensembl	human	known	70_37	missense	SNP	1.000	G	G	242962	C	G	242962	3	3	164	1	0	0	0	0	1	0	0	0	9105	913	32	1	395	1	LUC7L	16	242962	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09		242962	90111791	528	31316										
CCDC78	124093	genome.wustl.edu	37	chr16	775574	775574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagtacccggctctccagccGaaggatctgtgggacaactg	12	13	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:775574G>A	ENST00000293889.6	-	4	379	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000561546.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	92					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTCCAGCCGAAGGATCTGT	0.677																																																	0													37	37	37					16																	775574		2193	4297	6490	SO:0001583	missense	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.274C>T	16.37:g.775574G>A	ENSP00000293889:p.Arg92Trp		B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	NULL	p.R92W	ENST00000293889.6	37	c.274	CCDS32353.1	16	.	.	.	.	.	.	.	.	.	.	G	4.851	0.158207	0.09236	.	.	ENSG00000162004	ENST00000293889	T	0.48201	0.82	4.83	0.228	0.15364	.	0.789478	0.11175	N	0.591611	T	0.26846	0.0657	N	0.17082	0.46	0.19945	N	0.999947	B;B;B;B	0.17667	0.023;0.023;0.01;0.003	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.17961	-1.0352	10	0.51188	T	0.08	-28.1705	4.2574	0.10724	0.2978:0.0:0.5432:0.159	.	92;92;166;92	A2IDD5-4;A2IDD5-6;A2IDD5-5;A2IDD5	.;.;.;CCD78_HUMAN	W	92	ENSP00000293889:R92W	ENSP00000293889:R92W	R	-	1	2	CCDC78	715575	0.000000	0.05858	0.947000	0.38551	0.003000	0.03518	-0.193000	0.09573	0.197000	0.20387	-1.407000	0.01130	CGG	CCDC78	-	NULL		0.677	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	HGNC	protein_coding	OTTHUMT00000241665.3	G	NM_173476		775574	-1	no_errors	ENST00000293889	ensembl	human	known	70_37	missense	SNP	0.421	A	A	775574	G	A	775574	3	1	164	1	0	0	0	0	1	0	0	0	2857	1057	37	1	1086	1	CCDC78	16	775574	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	532612	775574	89579179	529	31317										
BAIAP3	8938	genome.wustl.edu	37	chr16	1392586	1392586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggagccacgctccagtgcctCgcgtgtgcagggacactgcc	14	15	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:1392586C>T	ENST00000324385.5	+	12	1279	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	BAIAP3_ENST00000421665.2_Intron|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S339L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S316L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S356L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S356L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S311L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	374					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCAGTGCCTCGCGTGTGCAG	0.687																																																	0													26	22	23					16																	1392586		2163	4280	6443	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1121C>T	16.37:g.1392586C>T	ENSP00000324510:p.Ser374Leu		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S374L	ENST00000324385.5	37	c.1121	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	c	16.33	3.093412	0.56075	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	4.9	3.94	0.45596	C2 calcium/lipid-binding domain, CaLB (1);	0.123128	0.56097	D	0.000030	D	0.87970	0.6312	M	0.84326	2.69	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.974;0.974;0.983	D	0.87656	0.2531	10	0.87932	D	0	-24.2184	7.1863	0.25801	0.0:0.7323:0.1727:0.0949	.	316;374;356	B4DIK3;O94812;A2A2B2	.;BAIP3_HUMAN;.	L	339;356;374;356	ENSP00000407242:S339L;ENSP00000380625:S356L;ENSP00000324510:S374L;ENSP00000380626:S356L	ENSP00000324510:S374L	S	+	2	0	BAIAP3	1332587	0.988000	0.35896	0.990000	0.47175	0.460000	0.32559	2.801000	0.47908	1.179000	0.42884	0.574000	0.79327	TCG	BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.687	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	C			1392586	1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1392586	C	T	1392586	3	4	164	1	0	0	0	0	1	0	0	0	1305	893	31	1	1167	1	BAIAP3	16	1392586	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	617012	1392586	88962167	530	31318										
BAIAP3	8938	genome.wustl.edu	37	chr16	1392626	1392626	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacctggttctcaagctgatCactacgcaggtggggaaagt	12	10	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:1392626C>T	ENST00000324385.5	+	12	1319	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	BAIAP3_ENST00000421665.2_Intron|BAIAP3_ENST00000426824.3_Silent_p.I352I|BAIAP3_ENST00000562208.1_Silent_p.I329I|BAIAP3_ENST00000397489.1_Silent_p.I369I|BAIAP3_ENST00000397488.2_Silent_p.I369I|BAIAP3_ENST00000568887.1_Silent_p.I324I	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	387					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCAAGCTGATCACTACGCAGG	0.662																																																	0													29	26	27					16																	1392626		2178	4290	6468	SO:0001819	synonymous_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1161C>T	16.37:g.1392626C>T			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.I387	ENST00000324385.5	37	c.1161	CCDS10434.1	16																																																																																			BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.662	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	C			1392626	1	no_errors	ENST00000324385	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1392626	C	T	1392626	2	4	164	1	0	0	0	0	0	0	0	1	1305	816	29	1		1	BAIAP3	16	1392626	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	40	1392626	88962127	531	31319										
C16orf91	283951	genome.wustl.edu	37	chr16	1470551	1470551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagggtgggcccgatcccggGaaccgggcaacggatgaagg	18	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:1470551G>A	ENST00000442039.2	-	2	171	c.95C>T	c.(94-96)tCc>tTc	p.S32F	C16orf91_ENST00000563974.1_5'UTR|C16orf91_ENST00000310355.1_Missense_Mutation_p.S189F	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	32						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCGATCCCGGGAACCGGGCAA	0.682																																																	0													27	31	30					16																	1470551		2199	4299	6498	SO:0001583	missense	283951			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.95C>T	16.37:g.1470551G>A	ENSP00000413100:p.Ser32Phe		Q96RZ0	Missense_Mutation	SNP	prints_CCSMST1	p.S189F	ENST00000442039.2	37	c.566		16	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606196	0.28623	.	.	ENSG00000174109	ENST00000442039;ENST00000310355	.	.	.	4.29	-1.07	0.09968	.	1.363970	0.05185	N	0.502011	T	0.19046	0.0457	.	.	.	0.09310	N	1	P	0.43094	0.799	B	0.34931	0.192	T	0.23797	-1.0178	8	0.56958	D	0.05	-2.7775	3.8795	0.09072	0.134:0.4448:0.3195:0.1018	.	32	Q4G0I0	CSMT1_HUMAN	F	32;189	.	ENSP00000311390:S189F	S	-	2	0	C16orf91	1410552	0.276000	0.24211	0.063000	0.19743	0.008000	0.06430	-0.066000	0.11598	-0.034000	0.13713	-0.311000	0.09066	TCC	C16orf91	-	NULL		0.682	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	G	NM_001010878		1470551	-1	no_errors	ENST00000310355	ensembl	human	known	70_37	missense	SNP	0.014	A	A	1470551	G	A	1470551	3	1	164	1	0	0	0	0	1	0	0	0	1848	1174	41	1	510	1	C16orf91	16	1470551	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	77925	1470551	88884202	532	31320										
CRAMP1L	57585	genome.wustl.edu	37	chr16	1676140	1676140	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcgtggagcacagaggacaaGaacaccttcttcgaggggct	13	10	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:1676140G>A	ENST00000397412.3	+	3	612	c.513G>A	c.(511-513)aaG>aaA	p.K171K	CRAMP1L_ENST00000436138.3_Silent_p.K168K|CRAMP1L_ENST00000293925.5_Silent_p.K171K|LA16c-395F10.1_ENST00000415176.1_RNA			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	171	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAGAGGACAAGAACACCTTCT	0.642																																																	0													60	65	63					16																	1676140		692	1591	2283	SO:0001819	synonymous_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.513G>A	16.37:g.1676140G>A			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.K171	ENST00000397412.3	37	c.513	CCDS10440.2	16																																																																																			CRAMP1L	-	superfamily_Homeodomain-like,smart_SANT/Myb		0.642	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	G			1676140	1	no_errors	ENST00000293925	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1676140	G	A	1676140	2	1	164	1	0	0	0	0	0	0	0	1	3851	933	33	1		1	CRAMP1L	16	1676140	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	205589	1676140	88678613	533	31321										
TSC2	7249	genome.wustl.edu	37	chr16	2129132	2129132	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaaaacctccacctggagctCacggaaacctgtctggacat	8	13	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:2129132C>T	ENST00000219476.3	+	27	3696	c.3066C>T	c.(3064-3066)ctC>ctT	p.L1022L	TSC2_ENST00000353929.4_Silent_p.L979L|TSC2_ENST00000350773.4_Silent_p.L1022L|TSC2_ENST00000401874.2_Silent_p.L978L|TSC2_ENST00000439673.2_Silent_p.L942L|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000568454.1_Silent_p.L989L|TSC2_ENST00000382538.6_Silent_p.L930L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1022					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACCTGGAGCTCACGGAAACCT	0.607			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													124	99	107					16																	2129132		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3066C>T	16.37:g.2129132C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.L1022	ENST00000219476.3	37	c.3066	CCDS10458.1	16																																																																																			TSC2	-	NULL		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2129132	1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2129132	C	T	2129132	2	4	164	1	0	0	0	0	0	0	0	1	16637	813	29	1		1	TSC2	16	2129132	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	452992	2129132	88225621	534	31322										
TSC2	7249	genome.wustl.edu	37	chr16	2129168	2129168	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gacatgatggctcgatacgtCttctccaacttcacggctgt	9	12	3	1	rs562998574		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:2129168C>G	ENST00000219476.3	+	27	3732	c.3102C>G	c.(3100-3102)gtC>gtG	p.V1034V	TSC2_ENST00000353929.4_Silent_p.V991V|TSC2_ENST00000350773.4_Silent_p.V1034V|TSC2_ENST00000401874.2_Silent_p.V990V|TSC2_ENST00000439673.2_Silent_p.V954V|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000568454.1_Silent_p.V1001V|TSC2_ENST00000382538.6_Silent_p.V942V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1034					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTCGATACGTCTTCTCCAACT	0.617			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				C|||	1	0.000199681	0	0	5008	,	,		18969	0		0	False		,,,				2504	0.001						yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													111	89	97					16																	2129168		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3102C>G	16.37:g.2129168C>G			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.V1034	ENST00000219476.3	37	c.3102	CCDS10458.1	16																																																																																			TSC2	-	NULL		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2129168	1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	G	G	2129168	C	G	2129168	2	3	164	1	0	0	0	0	0	0	0	1	16637	900	32	1		1	TSC2	16	2129168	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	36	2129168	88225585	535	31323										
TRAF7	84231	genome.wustl.edu	37	chr16	2225536	2225536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcactgagctgaagttgaaGaaggagctcacaggcctcaa	13	9	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:2225536G>C	ENST00000326181.6	+	17	1671	c.1539G>C	c.(1537-1539)aaG>aaC	p.K513N		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	513					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TGAAGTTGAAGAAGGAGCTCA	0.622																																																	0													90	88	89					16																	2225536		2198	4300	6498	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1539G>C	16.37:g.2225536G>C	ENSP00000318944:p.Lys513Asn		Q9H073	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K513N	ENST00000326181.6	37	c.1539	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735701	0.69189	.	.	ENSG00000131653	ENST00000326181	T	0.63744	-0.06	4.49	3.53	0.40419	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	L	0.56769	1.78	0.58432	D	0.999999	D	0.76494	0.999	D	0.68483	0.958	T	0.68591	-0.5368	10	0.27785	T	0.31	-36.247	12.0752	0.53638	0.0846:0.0:0.9154:0.0	.	513	Q6Q0C0	TRAF7_HUMAN	N	513	ENSP00000318944:K513N	ENSP00000318944:K513N	K	+	3	2	TRAF7	2165537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.952000	0.56691	1.255000	0.44051	0.561000	0.74099	AAG	TRAF7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.622	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	G	NM_032271		2225536	1	no_errors	ENST00000326181	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2225536	G	C	2225536	3	2	164	1	0	0	0	0	1	0	0	0	16477	933	33	1	1601	1	TRAF7	16	2225536	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	96368	2225536	88129217	536	31324										
ZNF434	54925	genome.wustl.edu	37	chr16	3434520	3434520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acttcctggccaggattcctGaagtccttttcatccctgtc	7	14	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:3434520G>A	ENST00000396852.4	-	6	1480	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	ZSCAN32_ENST00000304926.3_Silent_p.F179F|NAA60_ENST00000576906.1_3'UTR|ZSCAN32_ENST00000573830.1_Silent_p.F102F|ZSCAN32_ENST00000439568.2_Silent_p.F102F|ZSCAN32_ENST00000574940.1_Silent_p.F391F|ZSCAN32_ENST00000396846.3_Silent_p.F391F|ZSCAN32_ENST00000422427.2_Silent_p.F179F	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	391					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										CAGGATTCCTGAAGTCCTTTT	0.512																																																	0													125	114	117					16																	3434520		2197	4300	6497	SO:0001819	synonymous_variant	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1173C>T	16.37:g.3434520G>A			B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.F391	ENST00000396852.4	37	c.1173		16																																																																																			ZNF434	-	NULL		0.512	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	G	NM_017810		3434520	-1	no_errors	ENST00000396846	ensembl	human	known	70_37	silent	SNP	0.000	A	A	3434520	G	A	3434520	2	1	164	1	0	0	0	0	0	0	0	1	17938	1281	45	1		1	ZNF434	16	3434520	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1208984	3434520	86920233	537	31325										
ATF7IP2	80063	genome.wustl.edu	37	chr16	10565998	10565998	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgttatgttgatttctgtgGaaagtcctaatttgacaact	8	5	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:10565998G>T	ENST00000396560.2	+	8	1611	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*	ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.E462*|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.E462*|ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.E462*|ATF7IP2_ENST00000543967.1_Nonsense_Mutation_p.E6*	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GATTTCTGTGGAAAGTCCTAA	0.284																																																	0													82	77	78					16																	10565998		2195	4289	6484	SO:0001587	stop_gained	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1384G>T	16.37:g.10565998G>T	ENSP00000379808:p.Glu462*		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3	p.E462*	ENST00000396560.2	37	c.1384	CCDS10540.1	16	.	.	.	.	.	.	.	.	.	.	G	40	8.450513	0.98817	.	.	ENSG00000166669	ENST00000396559;ENST00000543967;ENST00000396560;ENST00000356427;ENST00000324570	.	.	.	4.37	3.38	0.38709	.	0.381567	0.22199	N	0.063270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.6719	8.6926	0.34275	0.1116:0.0:0.8884:0.0	.	.	.	.	X	462;6;462;462;462	.	ENSP00000322811:E462X	E	+	1	0	ATF7IP2	10473499	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.785000	0.47782	0.794000	0.33899	0.484000	0.47621	GAA	ATF7IP2	-	NULL		0.284	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1	G	NM_024997		10565998	1	no_errors	ENST00000356427	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	10565998	G	T	10565998	4	4	164	1	0	0	0	0	0	1	0	0	1089	1175	41	3	1406	3	ATF7IP2	16	10565998	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7131478	10565998	79788755	538	31326										
ABCC6	368	genome.wustl.edu	37	chr16	16248553	16248553	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggctggccaccaaggctttGagctgcaccgtctccagggc	13	14	1	1	rs368258006		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:16248553G>C	ENST00000205557.7	-	29	4169	c.4140C>G	c.(4138-4140)ctC>ctG	p.L1380L		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1380	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCAAGGCTTTGAGCTGCACCG	0.642																																																	0													33	29	30					16																	16248553		2197	4298	6495	SO:0001819	synonymous_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4140C>G	16.37:g.16248553G>C			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L1380	ENST00000205557.7	37	c.4140	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.642	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	G			16248553	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	0.775	C	C	16248553	G	C	16248553	2	2	164	1	0	0	0	0	0	0	0	1	57	1277	45	1		1	ABCC6	16	16248553	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5682555	16248553	74106200	539	31327										
SMG1	23049	genome.wustl.edu	37	chr16	18865998	18865999	+	Frame_Shift_Ins	INS	-	-	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgctgtataaagcaatttggINSttttttcaatatcaagttcg							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:18865998_18865999insT	ENST00000446231.2	-	30	4874_4875	c.4462_4463insA	c.(4462-4464)accfs	p.T1488fs	SMG1_ENST00000389467.3_Frame_Shift_Ins_p.T1488fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1488	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T1484N(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAGCAATTTGGTTTTTTCAATA	0.317																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4463dupA	16.37:g.18866004_18866004dupT	ENSP00000402515:p.Thr1488fs		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T1488fs	ENST00000446231.2	37	c.4463_4462	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.317	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	NM_015092		18865999	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	18865999	-	T	18865998	7	5	164	1	0	1	1	0	0	0	0	0	14825	1261	44	0	6658	0	SMG1	16	18865998	Frame_Shift_Ins	INS	-	TCGA-JX-A3Q0-01A-11D-A21Q-09	2617445	18865998	71488755	540	31328	200	2								
SMG1	23049	genome.wustl.edu	37	chr16	18866005	18866005	+	Missense_Mutation	SNP	C	C	G													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ataaagcaatttggttttttCaatatcaagttcgggccccc							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:18866005C>G	ENST00000446231.2	-	30	4868	c.4456G>C	c.(4456-4458)Gaa>Caa	p.E1486Q	SMG1_ENST00000389467.3_Missense_Mutation_p.E1486Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1486	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGGTTTTTTCAATATCAAGT	0.333																																																	0													68	63	64					16																	18866005		1809	4072	5881	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4456G>C	16.37:g.18866005C>G	ENSP00000402515:p.Glu1486Gln		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1486Q	ENST00000446231.2	37	c.4456	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310974	0.60414	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01369	4.97;4.97	5.74	5.74	0.90152	PIK-related kinase (1);Armadillo-type fold (1);	0.210963	0.33309	N	0.005041	T	0.05364	0.0142	L	0.34521	1.04	0.50039	D	0.999849	D	0.63880	0.993	D	0.72982	0.979	T	0.57602	-0.7783	10	0.38643	T	0.18	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	1486	Q96Q15	SMG1_HUMAN	Q	1486	ENSP00000402515:E1486Q;ENSP00000374118:E1486Q	ENSP00000374118:E1486Q	E	-	1	0	SMG1	18773506	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	7.476000	0.81055	2.716000	0.92895	0.561000	0.74099	GAA	SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18866005	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18866005	C	G	18866005	3	3	164	1	0	0	0	0	1	0	0	0	14825	835	29	1	6665	1	SMG1	16	18866005	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	7	18866005	71488748	541	31329	200	2								
SMG1	23049	genome.wustl.edu	37	chr16	18866113	18866113	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggtctttcccagctgaacttCactgcactgtgccagcagtc	9	14	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:18866113C>A	ENST00000446231.2	-	30	4760	c.4348G>T	c.(4348-4350)Gaa>Taa	p.E1450*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.E1450*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1450	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGCTGAACTTCACTGCACTGT	0.443																																																	0													200	188	192					16																	18866113		1928	4132	6060	SO:0001587	stop_gained	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4348G>T	16.37:g.18866113C>A	ENSP00000402515:p.Glu1450*		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1450*	ENST00000446231.2	37	c.4348	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	47	13.005990	0.99712	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.89	4.94	0.65067	.	0.092119	0.46758	D	0.000269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9125	0.70770	0.0:0.9316:0.0:0.0684	.	.	.	.	X	1450	.	ENSP00000374118:E1450X	E	-	1	0	SMG1	18773614	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.544000	0.53640	1.499000	0.48617	0.561000	0.74099	GAA	SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18866113	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	18866113	C	A	18866113	4	1	164	1	0	0	0	0	0	1	0	0	14825	835	29	3	6773	3	SMG1	16	18866113	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	108	18866113	71488640	542	31330										
TMC7	79905	genome.wustl.edu	37	chr16	19056753	19056753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgacactcttcgtggattttCctagaaagtaagtgcgaggg	12	7	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:19056753C>T	ENST00000304381.5	+	11	1676	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	TMC7_ENST00000421369.3_Missense_Mutation_p.P406S|TMC7_ENST00000569532.1_Missense_Mutation_p.P516S	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	516					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CGTGGATTTTCCTAGAAAGTA	0.493																																																	0													127	105	113					16																	19056753		2197	4300	6497	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1546C>T	16.37:g.19056753C>T	ENSP00000304710:p.Pro516Ser		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.P516S	ENST00000304381.5	37	c.1546	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620958	0.87460	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.63417	-0.04;-0.04	5.27	5.27	0.74061	.	0.122950	0.56097	D	0.000026	T	0.80292	0.4596	M	0.82056	2.57	0.80722	D	1	D;P	0.67145	0.996;0.942	D;P	0.67900	0.954;0.881	T	0.82651	-0.0352	10	0.62326	D	0.03	.	18.8879	0.92387	0.0:1.0:0.0:0.0	.	516;516	Q7Z402;B3KSZ3	TMC7_HUMAN;.	S	516;406	ENSP00000304710:P516S;ENSP00000397081:P406S	ENSP00000304710:P516S	P	+	1	0	TMC7	18964254	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.728000	0.84847	2.437000	0.82529	0.555000	0.69702	CCT	TMC7	-	pfam_TMC		0.493	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	C	NM_024847		19056753	1	no_errors	ENST00000304381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19056753	C	T	19056753	3	4	164	1	0	0	0	0	1	0	0	0	16020	855	30	1	1588	1	TMC7	16	19056753	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	190640	19056753	71298000	543	31331										
PALB2	79728	genome.wustl.edu	37	chr16	23634403	23634403	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcttttatatttccagacttCagtagtacttgcttttcact	5	9	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:23634403C>T	ENST00000261584.4	-	9	3035	c.2883G>A	c.(2881-2883)ctG>ctA	p.L961L	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	961	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTCCAGACTTCAGTAGTACTT	0.403			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													103	93	96					16																	23634403		2197	4300	6497	SO:0001819	synonymous_variant	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2883G>A	16.37:g.23634403C>T			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	superfamily_WD40_repeat_dom	p.L961	ENST00000261584.4	37	c.2883	CCDS32406.1	16																																																																																			PALB2	-	superfamily_WD40_repeat_dom		0.403	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	C	NM_024675		23634403	-1	no_errors	ENST00000261584	ensembl	human	known	70_37	silent	SNP	0.897	T	T	23634403	C	T	23634403	2	4	164	1	0	0	0	0	0	0	0	1	11430	813	29	1		1	PALB2	16	23634403	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4577650	23634403	66720350	544	31332										
GTF3C1	2975	genome.wustl.edu	37	chr16	27481442	27481442	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctcttaccttttgatgacctCattctccaccattgagctgt	5	13	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:27481442C>T	ENST00000356183.4	-	31	4816	c.4801G>A	c.(4801-4803)Gag>Aag	p.E1601K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1601K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1601					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTGATGACCTCATTCTCCACC	0.562																																																	0													165	150	155					16																	27481442		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4801G>A	16.37:g.27481442C>T	ENSP00000348510:p.Glu1601Lys		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.E1601K	ENST00000356183.4	37	c.4801	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237327	0.79800	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25912	1.77	5.47	5.47	0.80525	.	0.304579	0.35235	N	0.003355	T	0.41373	0.1156	M	0.76574	2.34	0.40899	D	0.984133	P;P	0.51791	0.792;0.948	B;P	0.47941	0.326;0.562	T	0.44620	-0.9316	10	0.59425	D	0.04	-20.9728	18.943	0.92611	0.0:1.0:0.0:0.0	.	1601;1601	Q12789;Q12789-3	TF3C1_HUMAN;.	K	1601;1597	ENSP00000348510:E1601K	ENSP00000348510:E1601K	E	-	1	0	GTF3C1	27388943	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	5.303000	0.65738	2.561000	0.86390	0.591000	0.81541	GAG	GTF3C1	-	NULL		0.562	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27481442	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27481442	C	T	27481442	3	4	164	1	0	0	0	0	1	0	0	0	6892	835	29	1	1556	1	GTF3C1	16	27481442	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3847039	27481442	62873311	545	31333										
KIAA0556	23247	genome.wustl.edu	37	chr16	27751796	27751796	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctgtgaagtgccctcctgtCcatgaggagccctctctcat	9	15	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:27751796C>T	ENST00000261588.4	+	15	2197	c.2178C>T	c.(2176-2178)gtC>gtT	p.V726V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	726						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCCTCCTGTCCATGAGGAGC	0.547																																																	0													63	60	61					16																	27751796		2197	4300	6497	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2178C>T	16.37:g.27751796C>T			A7E2C2	Silent	SNP	superfamily_Thaumatin	p.V726	ENST00000261588.4	37	c.2178	CCDS32415.1	16																																																																																			KIAA0556	-	NULL		0.547	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27751796	1	no_errors	ENST00000261588	ensembl	human	known	70_37	silent	SNP	0.000	T	T	27751796	C	T	27751796	2	4	164	1	0	0	0	0	0	0	0	1	8203	842	30	1		1	KIAA0556	16	27751796	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	270354	27751796	62602957	546	31334										
ASPHD1	253982	genome.wustl.edu	37	chr16	29912882	29912882	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttcctaccagacctgccttCagccccctttgtgccgcggg	9	17	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:29912882C>T	ENST00000308748.5	+	1	842	c.590C>T	c.(589-591)tCa>tTa	p.S197L	ASPHD1_ENST00000483405.1_5'UTR|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	197					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GACCTGCCTTCAGCCCCCTTT	0.672																																																	0													59	63	61					16																	29912882		2177	4264	6441	SO:0001583	missense	253982			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.590C>T	16.37:g.29912882C>T	ENSP00000311447:p.Ser197Leu		A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	pfam_Asp_Arg_b-Hydrxlase	p.S197L	ENST00000308748.5	37	c.590	CCDS10660.1	16	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226181	0.79576	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.50548	0.74;0.74	5.74	3.78	0.43462	.	0.294711	0.29034	N	0.013352	T	0.38772	0.1053	N	0.24115	0.695	0.33780	D	0.624128	D	0.54207	0.965	P	0.47528	0.549	T	0.54951	-0.8216	10	0.72032	D	0.01	-11.2369	10.0483	0.42199	0.1378:0.7897:0.0:0.0725	.	197	Q5U4P2	ASPH1_HUMAN	L	197	ENSP00000388036:S197L;ENSP00000311447:S197L	ENSP00000311447:S197L	S	+	2	0	ASPHD1	29820383	0.048000	0.20356	0.562000	0.28370	0.962000	0.63368	2.234000	0.43035	0.765000	0.33221	0.563000	0.77884	TCA	ASPHD1	-	NULL		0.672	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPHD1	HGNC	protein_coding	OTTHUMT00000255163.2	C	NM_181718		29912882	1	no_errors	ENST00000308748	ensembl	human	known	70_37	missense	SNP	0.594	T	T	29912882	C	T	29912882	3	4	164	1	0	0	0	0	1	0	0	0	1055	838	29	1	592	1	ASPHD1	16	29912882	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2161086	29912882	60441871	547	31335										
TBC1D10B	26000	genome.wustl.edu	37	chr16	30369268	30369268	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagccccagggcagaggtcaGaagtaagcgtcctgccgggc	15	13	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:30369268G>C	ENST00000409939.3	-	9	2504	c.2424C>G	c.(2422-2424)ttC>ttG	p.F808L	CD2BP2_ENST00000305596.3_5'Flank|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	808					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCAGAGGTCAGAAGTAAGCGT	0.662																																																	0													31	29	30					16																	30369268		1706	3043	4749	SO:0001583	missense	26000			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.2424C>G	16.37:g.30369268G>C	ENSP00000386538:p.Phe808Leu		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F808L	ENST00000409939.3	37	c.2424	CCDS10676.2	16	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538724	0.45176	.	.	ENSG00000169221	ENST00000409939	T	0.11169	2.8	5.05	4.09	0.47781	.	0.347197	0.22883	N	0.054497	T	0.12475	0.0303	N	0.08118	0	0.29809	N	0.83178	D	0.63880	0.993	D	0.68192	0.956	T	0.03555	-1.1025	10	0.87932	D	0	.	6.7832	0.23659	0.2839:0.0:0.7161:0.0	.	808	Q4KMP7	TB10B_HUMAN	L	808	ENSP00000386538:F808L	ENSP00000386538:F808L	F	-	3	2	TBC1D10B	30276769	0.986000	0.35501	1.000000	0.80357	0.973000	0.67179	0.938000	0.28965	1.241000	0.43820	0.467000	0.42956	TTC	TBC1D10B	-	NULL		0.662	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	G	NM_015527		30369268	-1	no_errors	ENST00000409939	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30369268	G	C	30369268	3	2	164	1	0	0	0	0	1	0	0	0	15629	933	33	1	6	1	TBC1D10B	16	30369268	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	456386	30369268	59985485	548	31336										
SEPT1	1731	genome.wustl.edu	37	chr16	30390802	30390802	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgtcccctcaccggccggttCccgccatccctcaccacctc	6	24	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:30390802C>T	ENST00000571393.1	-	9	900	c.714G>A	c.(712-714)ggG>ggA	p.G238G	SEPT1_ENST00000605106.1_Silent_p.G243G|SEPT1_ENST00000321367.3_Silent_p.G285G			Q8WYJ6	SEPT1_HUMAN	septin 1	238	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCGGCCGGTTCCCGCCATCCC	0.672																																																	0													77	70	72					16																	30390802		2197	4300	6497	SO:0001819	synonymous_variant	1731			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.714G>A	16.37:g.30390802C>T			B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.G243	ENST00000571393.1	37	c.729		16																																																																																			SEPT1	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.672	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		C	NM_052838		30390802	-1	no_errors	ENST00000321367	ensembl	human	known	70_37	silent	SNP	0.001	T	T	30390802	C	T	30390802	2	4	164	1	0	0	0	0	0	0	0	1	14089	842	30	1		1	SEPT1	16	30390802	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	21534	30390802	59963951	549	31337										
HSD3B7	80270	genome.wustl.edu	37	chr16	30999441	30999441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggctatgagcccctgttctcGtgggaggatagccggacccg	15	12	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:30999441G>A	ENST00000297679.5	+	7	1140	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	HSD3B7_ENST00000353250.5_3'UTR|AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	349					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCTGTTCTCGTGGGAGGATA	0.642																																																	0													32	28	30					16																	30999441		2197	4300	6497	SO:0001819	synonymous_variant	80270			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.1047G>A	16.37:g.30999441G>A			Q96M28|Q9BSN9	Silent	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA	p.S349	ENST00000297679.5	37	c.1047	CCDS10698.1	16																																																																																			HSD3B7	-	NULL		0.642	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B7	HGNC	protein_coding	OTTHUMT00000255554.2	G			30999441	1	no_errors	ENST00000297679	ensembl	human	known	70_37	silent	SNP	0.851	A	A	30999441	G	A	30999441	2	1	164	1	0	0	0	0	0	0	0	1	7412	1132	40	2		2	HSD3B7	16	30999441	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	608639	30999441	59355312	550	31338										
ZNF646	9726	genome.wustl.edu	37	chr16	31091918	31091918	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccaattgggtggtgctgagCcagtaccccacttggaggat	13	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:31091918C>G	ENST00000394979.2	+	1	4696	c.4273C>G	c.(4273-4275)Cca>Gca	p.P1425A	ZNF646_ENST00000300850.5_Missense_Mutation_p.P1425A			O15015	ZN646_HUMAN	zinc finger protein 646	1425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGGTGCTGAGCCAGTACCCCA	0.652																																																	0													43	45	44					16																	31091918		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4273C>G	16.37:g.31091918C>G	ENSP00000378429:p.Pro1425Ala		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1425A	ENST00000394979.2	37	c.4273		16	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.327563	0.00229	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.06933	3.24;3.28	4.71	-5.57	0.02521	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42189	-0.9466	9	0.33940	T	0.23	1.0356	2.4079	0.04417	0.129:0.2771:0.3941:0.1999	.	1425	O15015-2	.	A	1425	ENSP00000300850:P1425A;ENSP00000378429:P1425A	ENSP00000300850:P1425A	P	+	1	0	ZNF646	30999419	0.000000	0.05858	0.087000	0.20705	0.086000	0.17979	-0.385000	0.07379	-1.016000	0.03371	-0.302000	0.09304	CCA	ZNF646	-	NULL		0.652	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31091918	1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.000	G	G	31091918	C	G	31091918	3	3	164	1	0	0	0	0	1	0	0	0	18092	739	26	4	4275	4	ZNF646	16	31091918	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	92477	31091918	59262835	551	31339										
ZNF646	9726	genome.wustl.edu	37	chr16	31092086	31092086	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atagtggaggctgggttcctCagttcctaactaggtcagag	13	8	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:31092086C>G	ENST00000394979.2	+	1	4864	c.4441C>G	c.(4441-4443)Cag>Gag	p.Q1481E	ZNF646_ENST00000300850.5_Missense_Mutation_p.Q1481E			O15015	ZN646_HUMAN	zinc finger protein 646	1481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTGGGTTCCTCAGTTCCTAAC	0.597																																																	0													52	65	60					16																	31092086		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4441C>G	16.37:g.31092086C>G	ENSP00000378429:p.Gln1481Glu		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1481E	ENST00000394979.2	37	c.4441		16	.	.	.	.	.	.	.	.	.	.	C	2.381	-0.342153	0.05243	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08720	3.06;3.1	5.65	2.44	0.29823	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.34015	0.435	B	0.28011	0.085	T	0.40646	-0.9552	9	0.44086	T	0.13	-1.1327	8.8383	0.35126	0.0:0.6191:0.2998:0.0811	.	1481	O15015-2	.	E	1481	ENSP00000300850:Q1481E;ENSP00000378429:Q1481E	ENSP00000300850:Q1481E	Q	+	1	0	ZNF646	30999587	0.019000	0.18553	0.588000	0.28705	0.024000	0.10985	0.805000	0.27112	0.735000	0.32537	0.650000	0.86243	CAG	ZNF646	-	NULL		0.597	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31092086	1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.079	G	G	31092086	C	G	31092086	3	3	164	1	0	0	0	0	1	0	0	0	18092	827	29	1	4443	1	ZNF646	16	31092086	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	168	31092086	59262667	552	31340										
ZNF646	9726	genome.wustl.edu	37	chr16	31092798	31092798	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acttctccctaacctgctgtCtcttaagaaccacagcagga	6	14	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:31092798C>G	ENST00000394979.2	+	1	5576	c.5153C>G	c.(5152-5154)tCt>tGt	p.S1718C	ZNF646_ENST00000300850.5_Missense_Mutation_p.S1718C			O15015	ZN646_HUMAN	zinc finger protein 646	1718					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AACCTGCTGTCTCTTAAGAAC	0.627																																																	0													121	129	126					16																	31092798		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5153C>G	16.37:g.31092798C>G	ENSP00000378429:p.Ser1718Cys		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1718C	ENST00000394979.2	37	c.5153		16	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860333	0.71834	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.20200	2.09;2.09	5.8	5.8	0.92144	.	.	.	.	.	T	0.41373	0.1156	L	0.58428	1.81	0.43652	D	0.996062	D	0.76494	0.999	P	0.60236	0.871	T	0.03306	-1.1050	9	0.45353	T	0.12	-19.5513	18.8323	0.92145	0.0:1.0:0.0:0.0	.	1718	O15015-2	.	C	1718	ENSP00000300850:S1718C;ENSP00000378429:S1718C	ENSP00000300850:S1718C	S	+	2	0	ZNF646	31000299	0.128000	0.22383	1.000000	0.80357	0.986000	0.74619	2.576000	0.46033	2.755000	0.94549	0.655000	0.94253	TCT	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31092798	1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31092798	C	G	31092798	3	3	164	1	0	0	0	0	1	0	0	0	18092	913	32	1	5155	1	ZNF646	16	31092798	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	712	31092798	59261955	553	31341										
ITGAM	3684	genome.wustl.edu	37	chr16	31336831	31336831	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgccttccagaaccagcgctCacagcgatcctggcgcctgg	11	16	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:31336831C>T	ENST00000287497.8	+	21	2591	c.2516C>T	c.(2515-2517)tCa>tTa	p.S839L	ITGAM_ENST00000544665.3_Missense_Mutation_p.S840L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	839					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AACCAGCGCTCACAGCGATCC	0.607																																																	0													62	66	65					16																	31336831		2087	4210	6297	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2516C>T	16.37:g.31336831C>T	ENSP00000287497:p.Ser839Leu		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S840L	ENST00000287497.8	37	c.2519	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732449	0.30684	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.46819	0.86;0.86	4.87	0.511	0.16989	Integrin alpha-2 (1);	.	.	.	.	T	0.47488	0.1448	M	0.79475	2.455	0.09310	N	1	P;B;B	0.37276	0.589;0.005;0.005	B;B;B	0.43018	0.405;0.012;0.012	T	0.39057	-0.9632	9	0.30078	T	0.28	.	3.2256	0.06731	0.1674:0.4122:0.3256:0.0948	.	245;839;839	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	L	840;839	ENSP00000441691:S840L;ENSP00000287497:S839L	ENSP00000287497:S839L	S	+	2	0	ITGAM	31244332	0.001000	0.12720	0.001000	0.08648	0.225000	0.24961	1.035000	0.30216	0.646000	0.30693	0.558000	0.71614	TCA	ITGAM	-	pfam_Integrin_alpha-2		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	C	NM_000632		31336831	1	no_errors	ENST00000544665	ensembl	human	known	70_37	missense	SNP	0.000	T	T	31336831	C	T	31336831	3	4	164	1	0	0	0	0	1	0	0	0	7907	838	29	1	2601	1	ITGAM	16	31336831	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	244033	31336831	59017922	554	31342										
GPR114	221188	genome.wustl.edu	37	chr16	57604363	57604363	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctggtgctgctttccctctCtgtcaagagctcggtatacg	10	13	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:57604363C>G	ENST00000340339.4	+	10	1647	c.1124C>G	c.(1123-1125)tCt>tGt	p.S375C	GPR114_ENST00000394361.4_Intron|GPR114_ENST00000349457.3_Missense_Mutation_p.S375C	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	375					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CTTTCCCTCTCTGTCAAGAGC	0.632																																																	0													63	58	59					16																	57604363		2198	4300	6498	SO:0001583	missense	221188			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1124C>G	16.37:g.57604363C>G	ENSP00000342981:p.Ser375Cys		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.S375C	ENST00000340339.4	37	c.1124	CCDS10785.1	16	.	.	.	.	.	.	.	.	.	.	C	7.545	0.661414	0.14645	.	.	ENSG00000159618	ENST00000340339;ENST00000349457	T;T	0.45668	0.89;0.89	4.58	-0.575	0.11734	GPCR, family 2-like (1);	1.614470	0.03708	N	0.249665	T	0.38612	0.1047	L	0.42632	1.34	0.09310	N	1	P	0.34815	0.47	B	0.38428	0.273	T	0.38972	-0.9636	10	0.52906	T	0.07	.	6.7026	0.23232	0.0:0.3283:0.0:0.6717	.	375	Q8IZF4	GP114_HUMAN	C	375	ENSP00000342981:S375C;ENSP00000290823:S375C	ENSP00000342981:S375C	S	+	2	0	GPR114	56161864	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.311000	0.08124	0.008000	0.14787	0.555000	0.69702	TCT	GPR114	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.632	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	C	NM_153837		57604363	1	no_errors	ENST00000340339	ensembl	human	known	70_37	missense	SNP	0.000	G	G	57604363	C	G	57604363	3	3	164	1	0	0	0	0	1	0	0	0	6650	913	32	1	1158	1	GPR114	16	57604363	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	26267532	57604363	32750390	555	31343										
CNGB1	1258	genome.wustl.edu	37	chr16	57937756	57937756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgcgagtgccaggtgtactCgtaccaggtcttgacgcggt	14	10	1	1	rs373209562		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:57937756C>T	ENST00000251102.8	-	27	2824	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E916K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	922					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGGTGTACTCGTACCAGGTC	0.592																																					Colon(156;1293 1853 16336 28962 38659)												0								C	LYS/GLU	2,4214		0,2,2106	117	126	123		2764	4	1	16		123	0,8446		0,0,4223	no	missense	CNGB1	NM_001297.4	56	0,2,6329	TT,TC,CC		0.0,0.0474,0.0158	benign	922/1252	57937756	2,12660	2108	4223	6331	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2764G>A	16.37:g.57937756C>T	ENSP00000251102:p.Glu922Lys		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E922K	ENST00000251102.8	37	c.2764	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048563	0.75846	4.74E-4	0.0	ENSG00000070729	ENST00000251102	D	0.97016	-4.21	4.95	3.99	0.46301	Cyclic nucleotide-binding-like (1);	0.274240	0.35772	N	0.002989	D	0.91392	0.7284	L	0.34521	1.04	0.80722	D	1	P;B	0.42039	0.769;0.446	B;B	0.32677	0.15;0.087	D	0.90003	0.4116	10	0.48119	T	0.1	.	12.1004	0.53780	0.0:0.9169:0.0:0.0831	.	294;922	Q14028-2;Q14028	.;CNGB1_HUMAN	K	922	ENSP00000251102:E922K	ENSP00000251102:E922K	E	-	1	0	CNGB1	56495257	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.280000	0.51677	1.076000	0.40961	0.655000	0.94253	GAG	CNGB1	-	superfamily_cNMP-bd-like		0.592	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	C	NM_001297		57937756	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57937756	C	T	57937756	3	4	164	1	0	0	0	0	1	0	0	0	3605	893	31	1	1019	1	CNGB1	16	57937756	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	333393	57937756	32416997	556	31344										
CNGB1	1258	genome.wustl.edu	37	chr16	57957253	57957253	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgacaacgccttgagctcttCagcctcatcatcctcagagg	8	14	5	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:57957253C>T	ENST00000251102.8	-	18	1627	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E517K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	523					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TTGAGCTCTTCAGCCTCATCA	0.582																																					Colon(156;1293 1853 16336 28962 38659)												0													64	68	67					16																	57957253		2035	4199	6234	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1567G>A	16.37:g.57957253C>T	ENSP00000251102:p.Glu523Lys		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E523K	ENST00000251102.8	37	c.1567	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272411	0.80580	.	.	ENSG00000070729	ENST00000251102	T	0.27720	1.65	4.97	4.97	0.65823	.	0.000000	0.49916	D	0.000123	T	0.43875	0.1267	M	0.74881	2.28	0.80722	D	1	D	0.53885	0.963	P	0.50537	0.643	T	0.37526	-0.9702	10	0.42905	T	0.14	.	13.6163	0.62110	0.0:1.0:0.0:0.0	.	523	Q14028	CNGB1_HUMAN	K	523	ENSP00000251102:E523K	ENSP00000251102:E523K	E	-	1	0	CNGB1	56514754	0.917000	0.31117	0.992000	0.48379	0.557000	0.35523	1.626000	0.37039	2.576000	0.86940	0.655000	0.94253	GAA	CNGB1	-	NULL		0.582	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	C	NM_001297		57957253	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	0.991	T	T	57957253	C	T	57957253	3	4	164	1	0	0	0	0	1	0	0	0	3605	835	29	1	2252	1	CNGB1	16	57957253	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	19497	57957253	32397500	557	31345										
ELMO3	1874	genome.wustl.edu	37	chr16	67233124	67233124	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggacaccgaggtcaggtctCggaaagggaggacctcctcg	16	11	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:67233124C>T	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Silent_p.L18L|ELMO3_ENST00000393997.2_Silent_p.L18L|ELMO3_ENST00000477898.1_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGTCAGGTCTCGGAAAGGGAG	0.687																																																	0													21	30	27					16																	67233124		2080	4206	6286	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233124C>T			A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.L18	ENST00000379378.3	37	c.54	CCDS32464.1	16																																																																																			ELMO3	-	NULL		0.687	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000421565.1	C	NM_001950		67233124	1	no_errors	ENST00000393997	ensembl	human	known	70_37	silent	SNP	0.000	T	T	67233124	C	T	67233124	1	4	164	0	1	0	0	0	0	0	0	0	5079	871	31	1		1	ELMO3	16	67233124	IGR	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	9275871	67233124	23121629	558	31346										
ZFP90	146198	genome.wustl.edu	37	chr16	68597358	68597358	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tagaaaagcctttattcataGatcatcgcttactaaacatg	5	8	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:68597358G>T	ENST00000570495.1	+	5	960	c.668G>T	c.(667-669)aGa>aTa	p.R223I	ZFP90_ENST00000563169.2_Missense_Mutation_p.R223I|ZFP90_ENST00000398253.2_Missense_Mutation_p.R223I			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	223					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTTATTCATAGATCATCGCTT	0.338																																																	0													64	65	65					16																	68597358		1896	4113	6009	SO:0001583	missense	146198			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.668G>T	16.37:g.68597358G>T	ENSP00000460547:p.Arg223Ile		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R223I	ENST00000570495.1	37	c.668	CCDS42183.1	16	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202934	0.38905	.	.	ENSG00000184939	ENST00000398253	T	0.53640	0.61	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51753	0.1693	L	0.31294	0.92	0.09310	N	1	D	0.67145	0.996	P	0.60609	0.877	T	0.45264	-0.9273	9	0.33141	T	0.24	-16.1086	11.6036	0.51017	0.0797:0.0:0.9203:0.0	.	223	Q8TF47	ZFP90_HUMAN	I	223	ENSP00000381304:R223I	ENSP00000381304:R223I	R	+	2	0	ZFP90	67154859	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	0.306000	0.19279	2.941000	0.99782	0.655000	0.94253	AGA	ZFP90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	G	XM_085375		68597358	1	no_errors	ENST00000398253	ensembl	human	known	70_37	missense	SNP	0.005	T	T	68597358	G	T	68597358	3	4	164	1	0	0	0	0	1	0	0	0	17684	942	33	3	682	3	ZFP90	16	68597358	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1364234	68597358	21757395	559	31347										
CDH1	999	genome.wustl.edu	37	chr16	68862194	68862194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctatgatgaagaaggaggcgGagaagaggaccaggtgggtt	18	4	0	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:68862194G>A	ENST00000261769.5	+	14	2473	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.G700E	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	761	Required for binding CTNND1 and PSEN1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAAGGAGGCGGAGAAGAGGAC	0.483			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	0													79	77	78					16																	68862194		2198	4300	6498	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2282G>A	16.37:g.68862194G>A	ENSP00000261769:p.Gly761Glu		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G761E	ENST00000261769.5	37	c.2282	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800461	0.90538	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	D;D	0.98717	-5.09;-5.09	5.35	5.35	0.76521	Cadherin, cytoplasmic domain (1);	0.000000	0.43919	D	0.000505	D	0.99369	0.9778	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98888	1.0772	10	0.87932	D	0	.	19.0304	0.92953	0.0:0.0:1.0:0.0	.	700;761	Q9UII8;P12830	.;CADH1_HUMAN	E	761;779;700	ENSP00000261769:G761E;ENSP00000414946:G700E	ENSP00000261769:G761E	G	+	2	0	CDH1	67419695	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.698000	0.98700	2.668000	0.90789	0.655000	0.94253	GGA	CDH1	-	pfam_Cadherin_cytoplasmic-dom		0.483	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	G	NM_004360		68862194	1	no_errors	ENST00000261769	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68862194	G	A	68862194	3	1	164	1	0	0	0	0	1	0	0	0	3100	1174	41	1	2336	1	CDH1	16	68862194	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	264836	68862194	21492559	560	31348										
VPS4A	27183	genome.wustl.edu	37	chr16	69352823	69352823	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gaagctgtcattttgccaatCaaattcccacacttgttcac	5	12	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:69352823C>G	ENST00000254950.11	+	5	597	c.441C>G	c.(439-441)atC>atG	p.I147M	COG8_ENST00000564419.1_5'Flank|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.I171M	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TTTTGCCAATCAAATTCCCAC	0.567																																																	0													115	134	128					16																	69352823		2044	4220	6264	SO:0001583	missense	27183			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.441C>G	16.37:g.69352823C>G	ENSP00000254950:p.Ile147Met			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.I147M	ENST00000254950.11	37	c.441	CCDS45517.1	16	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215138	0.39102	.	.	ENSG00000132612	ENST00000254950	D	0.95137	-3.62	6.17	-0.0507	0.13829	.	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	L	0.39397	1.21	0.53688	D	0.999973	B	0.33288	0.406	B	0.31016	0.123	T	0.76377	-0.2981	10	0.15066	T	0.55	-22.6369	6.4987	0.22155	0.1253:0.4235:0.0:0.4512	.	147	Q9UN37	VPS4A_HUMAN	M	147	ENSP00000254950:I147M	ENSP00000254950:I147M	I	+	3	3	VPS4A	67910324	0.986000	0.35501	0.998000	0.56505	0.994000	0.84299	0.248000	0.18198	-0.032000	0.13758	-0.302000	0.09304	ATC	VPS4A	-	NULL		0.567	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	C	NM_013245		69352823	1	no_errors	ENST00000254950	ensembl	human	known	70_37	missense	SNP	0.993	G	G	69352823	C	G	69352823	3	3	164	1	0	0	0	0	1	0	0	0	17243	816	29	1	459	1	VPS4A	16	69352823	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	490629	69352823	21001930	561	31349										
HPR	3250	genome.wustl.edu	37	chr16	72110819	72110819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggaagacacctgctatggcGatgcgggcagtgcctttgcc	14	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:72110819G>A	ENST00000540303.2	+	5	918	c.886G>A	c.(886-888)Gat>Aat	p.D296N	HPR_ENST00000356967.5_Missense_Mutation_p.D296N|HPR_ENST00000228226.8_Missense_Mutation_p.D333N|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	296	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGCTATGGCGATGCGGGCAG	0.567																																																	0													210	145	166					16																	72110819		2097	4212	6309	SO:0001583	missense	3250			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.886G>A	16.37:g.72110819G>A	ENSP00000441828:p.Asp296Asn		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D333N	ENST00000540303.2	37	c.997	CCDS42193.1	16	.	.	.	.	.	.	.	.	.	.	.	18.66	3.671795	0.67928	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.94457	-3.43;-3.43;-3.43	2.64	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.058681	0.64402	N	0.000004	D	0.98385	0.9463	H	0.99444	4.57	0.49389	D	0.999786	D	0.89917	1.0	D	0.97110	1.0	D	0.98169	1.0451	10	0.87932	D	0	.	12.2123	0.54386	0.0:0.0:1.0:0.0	.	296	P00739	HPTR_HUMAN	N	296;296;333	ENSP00000349451:D296N;ENSP00000441828:D296N;ENSP00000228226:D333N	ENSP00000228226:D333N	D	+	1	0	HP	70668320	1.000000	0.71417	0.683000	0.30040	0.567000	0.35839	7.730000	0.84881	1.461000	0.47929	0.411000	0.27672	GAT	HPR	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.567	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPR	HGNC	protein_coding	OTTHUMT00000421696.1	G	NM_020995		72110819	1	no_errors	ENST00000228226	ensembl	human	known	70_37	missense	SNP	0.999	A	A	72110819	G	A	72110819	3	1	164	1	0	0	0	0	1	0	0	0	7357	1058	37	1	904	1	HPR	16	72110819	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2757996	72110819	18243934	562	31350										
ZFHX3	463	genome.wustl.edu	37	chr16	72845491	72845491	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cttaccgtcataatgagcttCtccacgcagtcaggtgccac	8	14	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:72845491C>T	ENST00000268489.5	-	7	4521	c.3849G>A	c.(3847-3849)gaG>gaA	p.E1283E	ZFHX3_ENST00000397992.5_Silent_p.E369E|RP5-991G20.2_ENST00000558618.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1283					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TAATGAGCTTCTCCACGCAGT	0.557																																																	0													54	49	50					16																	72845491		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3849G>A	16.37:g.72845491C>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E1283	ENST00000268489.5	37	c.3849	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72845491	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72845491	C	T	72845491	2	4	164	1	0	0	0	0	0	0	0	1	17664	912	32	1		1	ZFHX3	16	72845491	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	734672	72845491	17509262	563	31351										
LDHD	197257	genome.wustl.edu	37	chr16	75148453	75148453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cggcctcggcccgccgtgtgCagcagccgcccgtcgggcag	16	18	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:75148453C>T	ENST00000450168.2	-	5	650	c.600G>A	c.(598-600)ctG>ctA	p.L200L	LDHD_ENST00000300051.4_Silent_p.L200L	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CCGCCGTGTGCAGCAGCCGCC	0.756																																																	0													10	12	11					16																	75148453		1925	3702	5627	SO:0001819	synonymous_variant	197257			AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.600G>A	16.37:g.75148453C>T				Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.L200	ENST00000450168.2	37	c.600	CCDS45529.1	16																																																																																			LDHD	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2		0.756	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000434651.1	C	NM_153486		75148453	-1	no_errors	ENST00000300051	ensembl	human	known	70_37	silent	SNP	0.942	T	T	75148453	C	T	75148453	2	4	164	1	0	0	0	0	0	0	0	1	8723	697	25	4		4	LDHD	16	75148453	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2302962	75148453	15206300	564	31352										
CMIP	80790	genome.wustl.edu	37	chr16	81703836	81703836	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcggggatggaagtggtgaaGaagttcattcagaggtgggt	19	3	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:81703836G>A	ENST00000537098.3	+	8	987	c.915G>A	c.(913-915)aaG>aaA	p.K305K	CMIP_ENST00000398040.4_Silent_p.K152K|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.K211K	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	305						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						AAGTGGTGAAGAAGTTCATTC	0.567																																																	0													61	66	64					16																	81703836		1982	4159	6141	SO:0001819	synonymous_variant	80790			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.915G>A	16.37:g.81703836G>A			Q9C0G9	Silent	SNP	NULL	p.K305	ENST00000537098.3	37	c.915	CCDS54044.1	16																																																																																			CMIP	-	NULL		0.567	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	HGNC	protein_coding	OTTHUMT00000432399.2	G	NM_030629		81703836	1	no_errors	ENST00000537098	ensembl	human	known	70_37	silent	SNP	1.000	A	A	81703836	G	A	81703836	2	1	164	1	0	0	0	0	0	0	0	1	3583	933	33	1		1	CMIP	16	81703836	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6555383	81703836	8650917	565	31353										
ZC3H18	124245	genome.wustl.edu	37	chr16	88697525	88697525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtaggaagcgccagctgtcaCcccagtccaagagctccagc	11	15	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:88697525C>T	ENST00000301011.5	+	18	2880	c.2680C>T	c.(2680-2682)Ccc>Tcc	p.P894S	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P918S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	894						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCTGTCACCCCAGTCCAA	0.662																																					Ovarian(121;375 2276 20373 38669)												0													59	60	59					16																	88697525		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2680C>T	16.37:g.88697525C>T	ENSP00000301011:p.Pro894Ser		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.P894S	ENST00000301011.5	37	c.2680	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190500	0.58017	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.38887	1.11;1.13	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.57894	-0.7732	10	0.37606	T	0.19	-28.3394	19.639	0.95749	0.0:1.0:0.0:0.0	.	918;894	E7ERS3;Q86VM9	.;ZCH18_HUMAN	S	894;918	ENSP00000301011:P894S;ENSP00000416951:P918S	ENSP00000301011:P894S	P	+	1	0	ZC3H18	87225026	1.000000	0.71417	0.457000	0.27056	0.011000	0.07611	7.232000	0.78116	2.644000	0.89710	0.561000	0.74099	CCC	ZC3H18	-	NULL		0.662	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	C	NM_144604		88697525	1	no_errors	ENST00000301011	ensembl	human	known	70_37	missense	SNP	0.999	T	T	88697525	C	T	88697525	3	4	164	1	0	0	0	0	1	0	0	0	17598	507	18	4	2746	4	ZC3H18	16	88697525	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	6993689	88697525	1657228	566	31354										
CTU2	9780	genome.wustl.edu	37	chr16	88779087	88779087	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccaggagctggtgggatccGagggggcctacaaggcggcc	18	12	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:88779087G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Missense_Mutation_p.E171K|CTU2_ENST00000312060.5_Missense_Mutation_p.E171K|CTU2_ENST00000378384.3_Missense_Mutation_p.E84K|CTU2_ENST00000567949.1_Missense_Mutation_p.E242K	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GGTGGGATCCGAGGGGGCCTA	0.692																																																	0													25	31	29					16																	88779087		2198	4299	6497	SO:0001628	intergenic_variant	348180			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779087G>A			A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_Thiouridylase_cyt_su2	p.E242K	ENST00000301015.9	37	c.724	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625863	0.28889	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.17854	2.25;2.51;2.51	4.6	1.34	0.21922	.	0.746584	0.12592	N	0.455495	T	0.13243	0.0321	L	0.60455	1.87	0.09310	N	1	B;B;B	0.18863	0.031;0.031;0.018	B;B;B	0.12156	0.007;0.006;0.002	T	0.43972	-0.9358	10	0.06494	T	0.89	.	6.3062	0.21139	0.1665:0.2879:0.5455:0.0	.	84;171;171	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	K	84;171;171	ENSP00000367635:E84K;ENSP00000308617:E171K;ENSP00000388320:E171K	ENSP00000308617:E171K	E	+	1	0	CTU2	87306588	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.058000	0.14301	0.092000	0.17331	0.650000	0.86243	GAG	CTU2	-	NULL		0.692	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CTU2	HGNC	protein_coding	OTTHUMT00000345699.4	G	NM_014745		88779087	1	no_errors	ENST00000567949	ensembl	human	known	70_37	missense	SNP	0.000	A	A	88779087	G	A	88779087	1	1	164	0	1	0	0	0	0	0	0	0	4053	1059	37	1		1	CTU2	16	88779087	IGR	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	81562	88779087	1575666	567	31355										
APRT	353	genome.wustl.edu	37	chr16	88876153	88876153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggtacaggtgccagcttctCcctgcccttaagcgaggtca	12	13	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:88876153C>T	ENST00000378364.3	-	5	540	c.496G>A	c.(496-498)Gag>Aag	p.E166K	APRT_ENST00000426324.2_Intron|APRT_ENST00000563655.1_Missense_Mutation_p.E139K	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	166					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GCCAGCTTCTCCCTGCCCTTA	0.612																																																	0													91	84	87					16																	88876153		2198	4300	6498	SO:0001583	missense	353				CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.496G>A	16.37:g.88876153C>T	ENSP00000367615:p.Glu166Lys		G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	p.E166K	ENST00000378364.3	37	c.496	CCDS32511.1	16	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707758	0.30322	.	.	ENSG00000198931	ENST00000378364	D	0.94280	-3.39	5.34	5.34	0.76211	.	0.221207	0.45606	D	0.000353	D	0.86393	0.5922	L	0.38175	1.15	0.48975	D	0.999732	B	0.30406	0.278	B	0.25759	0.063	T	0.80968	-0.1145	10	0.10377	T	0.69	-37.8742	8.8526	0.35210	0.0:0.7677:0.152:0.0803	.	166	P07741	APT_HUMAN	K	166	ENSP00000367615:E166K	ENSP00000367615:E166K	E	-	1	0	APRT	87403654	0.998000	0.40836	0.999000	0.59377	0.034000	0.12701	4.000000	0.57039	2.511000	0.84671	0.561000	0.74099	GAG	APRT	-	tigrfam_Ade_phspho_trans		0.612	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APRT	HGNC	protein_coding	OTTHUMT00000430000.2	C	NM_000485		88876153	-1	no_errors	ENST00000378364	ensembl	human	known	70_37	missense	SNP	0.994	T	T	88876153	C	T	88876153	3	4	164	1	0	0	0	0	1	0	0	0	819	864	30	1	50	1	APRT	16	88876153	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	97066	88876153	1478600	568	31356										
SPG7	6687	genome.wustl.edu	37	chr16	89597205	89597205	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggaagtccgcgagtttgtgGattatctgaaggtgaaagca	14	5	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:89597205G>C	ENST00000268704.2	+	7	991	c.976G>C	c.(976-978)Gat>Cat	p.D326H	SPG7_ENST00000341316.2_Missense_Mutation_p.D326H|RNU7-117P_ENST00000516770.1_RNA	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	326					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CGAGTTTGTGGATTATCTGAA	0.582																																																	0													70	71	71					16																	89597205		2198	4300	6498	SO:0001583	missense	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.976G>C	16.37:g.89597205G>C	ENSP00000268704:p.Asp326His		O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH	p.D326H	ENST00000268704.2	37	c.976	CCDS10977.1	16	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589285	0.66105	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	T;T	0.60171	0.21;0.21	5.59	5.59	0.84812	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.68868	-0.5295	10	0.26408	T	0.33	-1.6314	19.9595	0.97236	0.0:0.0:1.0:0.0	.	326;326	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	H	326	ENSP00000268704:D326H;ENSP00000341157:D326H	ENSP00000268704:D326H	D	+	1	0	SPG7	88124706	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	9.597000	0.98273	2.797000	0.96272	0.563000	0.77884	GAT	SPG7	-	tigrfam_FtsH		0.582	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	HGNC	protein_coding	OTTHUMT00000269921.2	G	NM_003119		89597205	1	no_errors	ENST00000268704	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89597205	G	C	89597205	3	2	164	1	0	0	0	0	1	0	0	0	15074	1174	41	1	1002	1	SPG7	16	89597205	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	721052	89597205	757548	569	31357										
C16orf7	9605	genome.wustl.edu	37	chr16	89785456	89785456	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttagtggtttccacttcttCtagtaacacctgggagatat	8	8	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:89785456C>G	ENST00000389386.3	-	2	278	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	ZNF276_ENST00000289816.5_5'Flank|VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1_ENST00000561976.1_5'UTR|VPS9D1-AS1_ENST00000562866.1_RNA|ZNF276_ENST00000443381.2_5'Flank|ZNF276_ENST00000568064.1_5'Flank|ZNF276_ENST00000446326.2_5'Flank	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	52					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TCCACTTCTTCTAGTAACACC	0.572																																																	0													124	128	127					16																	89785456		1902	4112	6014	SO:0001583	missense	9605			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.154G>C	16.37:g.89785456C>G	ENSP00000374037:p.Glu52Gln			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.E52Q	ENST00000389386.3	37	c.154	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727664	0.48833	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	T	0.29655	1.56	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	M	0.68952	2.095	0.43740	D	0.99623	D	0.58970	0.984	P	0.52109	0.69	T	0.49072	-0.8977	10	0.72032	D	0.01	-28.613	14.5798	0.68278	0.0:1.0:0.0:0.0	.	52	Q9Y2B5	CP007_HUMAN	Q	52;83	ENSP00000374037:E52Q	ENSP00000261625:E83Q	E	-	1	0	C16orf7	88312957	1.000000	0.71417	0.851000	0.33527	0.178000	0.23041	3.967000	0.56802	2.187000	0.69744	0.561000	0.74099	GAA	VPS9D1	-	NULL		0.572	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	C	NM_004913		89785456	-1	no_errors	ENST00000389386	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89785456	C	G	89785456	3	3	164	1	0	0	0	0	1	0	0	0	1832	922	32	1	1797	1	C16orf7	16	89785456	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	188251	89785456	569297	570	31358										
TCF25	22980	genome.wustl.edu	37	chr16	89951063	89951063	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagcagcacgggagaagcatCggtacgtgagttgggcctgg	17	8	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:89951063C>T	ENST00000263346.8	+	3	484	c.428C>T	c.(427-429)tCg>tTg	p.S143L	TCF25_ENST00000263347.7_5'Flank	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	143					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GGAGAAGCATCGGTACGTGAG	0.527																																																	0													111	80	90					16																	89951063		2198	4299	6497	SO:0001630	splice_region_variant	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.429+1C>T	16.37:g.89951063C>T			Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.S143L	ENST00000263346.8	37	c.428	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559015	0.27827	.	.	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	5.14	-3.23	0.05109	.	0.914251	0.09247	N	0.828408	T	0.41351	0.1155	L	0.39147	1.195	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17653	-1.0362	9	0.26408	T	0.33	.	6.7079	0.23260	0.0:0.2711:0.141:0.5879	.	143	Q9BQ70	TCF25_HUMAN	L	143	.	ENSP00000263346:S143L	S	+	2	0	TCF25	88478564	0.001000	0.12720	0.031000	0.17742	0.031000	0.12232	-0.733000	0.04898	-0.409000	0.07553	-0.137000	0.14449	TCG	TCF25	-	NULL		0.527	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	C	NM_014972	Missense_Mutation	89951063	1	no_errors	ENST00000263346	ensembl	human	known	70_37	missense	SNP	0.010	T	T	89951063	C	T	89951063	5	4	164	1	0	0	0	0	0	0	1	0	15723	898	31	1	438	1	TCF25	16	89951063	Splice_Site	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	165607	89951063	403690	571	31359										
MYO1C	4641	genome.wustl.edu	37	chr17	1370785	1370785	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcgcctcacctgccctggttGatgttgatgctgttcacgcg	12	13	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:1370785G>A	ENST00000575158.1	-	30	3125	c.2949C>T	c.(2947-2949)atC>atT	p.I983I	MYO1C_ENST00000359786.5_Silent_p.I1018I|MYO1C_ENST00000361007.2_Silent_p.I983I|MYO1C_ENST00000438665.2_Silent_p.I999I|MYO1C_ENST00000545534.2_Silent_p.I994I			Q12965	MYO1E_HUMAN	myosin IC	171					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCCCTGGTTGATGTTGATGC	0.687																																																	0													79	71	73					17																	1370785		2203	4300	6503	SO:0001819	synonymous_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2949C>T	17.37:g.1370785G>A			Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1018	ENST00000575158.1	37	c.3054	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_tail_2		0.687	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	G			1370785	-1	no_errors	ENST00000359786	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1370785	G	A	1370785	2	1	164	1	0	0	0	0	0	0	0	1	10093	1280	45	1		1	MYO1C	17	1370785	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		1370785	79824425	572	31360										
OR1E1	8387	genome.wustl.edu	37	chr17	3301252	3301252	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aacatggcatggaaggtggtCagcacccaggacagcgccac	13	12	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:3301252C>T	ENST00000322608.2	-	1	452	c.453G>A	c.(451-453)ctG>ctA	p.L151L		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	151					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						GGAAGGTGGTCAGCACCCAGG	0.547																																																	0													80	63	69					17																	3301252		2203	4300	6503	SO:0001819	synonymous_variant	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.453G>A	17.37:g.3301252C>T			O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L151	ENST00000322608.2	37	c.453	CCDS11024.1	17																																																																																			OR1E1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.547	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	HGNC	protein_coding	OTTHUMT00000207303.1	C	NM_003553		3301252	-1	no_errors	ENST00000322608	ensembl	human	known	70_37	silent	SNP	0.020	T	T	3301252	C	T	3301252	2	4	164	1	0	0	0	0	0	0	0	1	10978	813	29	1		1	OR1E1	17	3301252	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1930467	3301252	77893958	573	31361										
SPAG7	9552	genome.wustl.edu	37	chr17	4863200	4863200	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctgcctcctcctcttgcctCtgggccagctcctaggggtg	12	16	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:4863200C>G	ENST00000206020.3	-	6	496	c.429G>C	c.(427-429)caG>caC	p.Q143H	SPAG7_ENST00000575142.1_Missense_Mutation_p.Q132H|SPAG7_ENST00000573366.1_Missense_Mutation_p.Q92H	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	143						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CCTCTTGCCTCTGGGCCAGCT	0.667																																																	0													43	47	45					17																	4863200		2047	4187	6234	SO:0001583	missense	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.429G>C	17.37:g.4863200C>G	ENSP00000206020:p.Gln143His		Q96EU5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd	p.Q143H	ENST00000206020.3	37	c.429	CCDS42240.1	17	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524281	0.27299	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.1	4.11	0.48088	.	0.175170	0.51477	D	0.000092	T	0.13157	0.0319	N	0.08118	0	0.30018	N	0.814615	P	0.48640	0.913	B	0.37601	0.254	T	0.04413	-1.0953	9	0.52906	T	0.07	-9.5784	7.9539	0.30031	0.0:0.82:0.0:0.18	.	143	O75391	SPAG7_HUMAN	H	143	.	ENSP00000206020:Q143H	Q	-	3	2	SPAG7	4803923	0.016000	0.18221	1.000000	0.80357	0.404000	0.30871	0.029000	0.13666	2.652000	0.90054	0.561000	0.74099	CAG	SPAG7	-	pirsf_Sperm-assoc_antigen_PAG7		0.667	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG7	HGNC	protein_coding	OTTHUMT00000438747.1	C	NM_004890		4863200	-1	no_errors	ENST00000206020	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4863200	C	G	4863200	3	3	164	1	0	0	0	0	1	0	0	0	15013	912	32	1	262	1	SPAG7	17	4863200	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1561948	4863200	76332010	574	31362										
USP6	9098	genome.wustl.edu	37	chr17	5076112	5076112	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctttcaggaacttcaccctGatgaaattgacaccgactct	6	13	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:5076112G>C	ENST00000574788.1	+	38	6290	c.4060G>C	c.(4060-4062)Gat>Cat	p.D1354H	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.D1354H|USP6_ENST00000304328.5_Missense_Mutation_p.D1037H			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1354	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACTTCACCCTGATGAAATTGA	0.428			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													129	120	123					17																	5076112		2203	4300	6503	SO:0001583	missense	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.4060G>C	17.37:g.5076112G>C	ENSP00000460380:p.Asp1354His		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.D1354H	ENST00000574788.1	37	c.4060	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960695	0.53400	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.32515	1.45;1.45	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.047337	0.85682	D	0.000000	T	0.48259	0.1490	M	0.64170	1.965	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.51180	-0.8738	10	0.87932	D	0	.	10.4068	0.44266	0.0:0.0:1.0:0.0	.	1037;1354	P35125-2;P35125	.;UBP6_HUMAN	H	1354;1037	ENSP00000250066:D1354H;ENSP00000305473:D1037H	ENSP00000250066:D1354H	D	+	1	0	USP6	5016836	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	9.474000	0.97718	1.313000	0.45069	0.184000	0.17185	GAT	USP6	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.428	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	G	NM_004505		5076112	1	no_errors	ENST00000250066	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5076112	G	C	5076112	3	2	164	1	0	0	0	0	1	0	0	0	17117	1290	45	1	4174	1	USP6	17	5076112	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	212912	5076112	76119098	575	31363										
RABEP1	9135	genome.wustl.edu	37	chr17	5257750	5257750	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagtagtgtgtgctttaactCaagaagaatcttcagcccag	9	9	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:5257750C>G	ENST00000546142.2	+	8	1247	c.1060C>G	c.(1060-1062)Caa>Gaa	p.Q354E	RABEP1_ENST00000262477.6_Missense_Mutation_p.Q354E|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q354E|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q311E|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q354E			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	354					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGCTTTAACTCAAGAAGAATC	0.323																																																	0													116	110	112					17																	5257750		1837	4080	5917	SO:0001583	missense	9135			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1060C>G	17.37:g.5257750C>G	ENSP00000437701:p.Gln354Glu		B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.Q354E	ENST00000546142.2	37	c.1060	CCDS45592.1	17	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195415	0.38806	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.44881	0.92;0.92;0.92;0.92;0.91	5.11	5.11	0.69529	.	0.726896	0.13840	N	0.359122	T	0.23094	0.0558	N	0.08118	0	0.33689	D	0.613091	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.001;0.002	B;B;B;B;B	0.11329	0.006;0.004;0.002;0.002;0.006	T	0.04017	-1.0984	10	0.02654	T	1	-0.7837	16.235	0.82365	0.0:1.0:0.0:0.0	.	311;311;347;354;354	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	E	354;354;347;354;354;311	ENSP00000262477:Q354E;ENSP00000386150:Q354E;ENSP00000437701:Q354E;ENSP00000339569:Q354E;ENSP00000445408:Q311E	ENSP00000262477:Q354E	Q	+	1	0	RABEP1	5198474	0.977000	0.34250	1.000000	0.80357	0.999000	0.98932	4.656000	0.61483	2.832000	0.97577	0.655000	0.94253	CAA	RABEP1	-	NULL		0.323	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1	C	NM_004703		5257750	1	no_errors	ENST00000262477	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5257750	C	G	5257750	3	3	164	1	0	0	0	0	1	0	0	0	12991	827	29	1	1090	1	RABEP1	17	5257750	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	181638	5257750	75937460	576	31364										
NLRP1	22861	genome.wustl.edu	37	chr17	5440179	5440179	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtccccccttaccgtctgctGaagatgagcagctgaggttt	11	12	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:5440179G>A	ENST00000572272.1	-	8	2951	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000345221.3_Silent_p.F984F|NLRP1_ENST00000269280.4_Silent_p.F984F|NLRP1_ENST00000262467.5_Silent_p.F984F|NLRP1_ENST00000577119.1_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	984					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACCGTCTGCTGAAGATGAGCA	0.587																																																	0													77	63	68					17																	5440179		2203	4300	6503	SO:0001819	synonymous_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2952C>T	17.37:g.5440179G>A			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.F984	ENST00000572272.1	37	c.2952	CCDS42246.1	17																																																																																			NLRP1	-	NULL		0.587	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	G	NM_033004		5440179	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	silent	SNP	0.000	A	A	5440179	G	A	5440179	2	1	164	1	0	0	0	0	0	0	0	1	10495	1281	45	1		1	NLRP1	17	5440179	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	182429	5440179	75755031	577	31365										
TP53	7157	genome.wustl.edu	37	chr17	7576889	7576889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctccatccagtggtttcttCtttggctggggagaggagct	13	9	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7576889C>G	ENST00000269305.4	-	9	1146	c.957G>C	c.(955-957)aaG>aaC	p.K319N	TP53_ENST00000445888.2_Missense_Mutation_p.K319N|TP53_ENST00000359597.4_Missense_Mutation_p.K319N|TP53_ENST00000420246.2_Missense_Mutation_p.K319N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.K319N|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	319	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in a sporadic cancer; somatic mutation).|K -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P318fs*15(2)|p.K319N(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.K320fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGTTTCTTCTTTGGCTGGG	0.463		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	18	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(2)|Unknown(1)|Insertion - Frameshift(1)	bone(4)|breast(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|stomach(1)|urinary_tract(1)|ovary(1)											128	118	122					17																	7576889		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.957G>C	17.37:g.7576889C>G	ENSP00000269305:p.Lys319Asn		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K319N	ENST00000269305.4	37	c.957	CCDS11118.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.93|18.93	3.726701|3.726701	0.69074|0.69074	.|.	.|.	ENSG00000141510|ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690|ENST00000419024	D;D;D;D;D;D|.	0.99784|.	-5.89;-3.89;-5.88;-5.91;-3.89;-6.74|.	5.16|5.16	3.13|3.13	0.36017|0.36017	p53, tetramerisation domain (3);|.	0.105621|.	0.64402|.	D|.	0.000007|.	T|T	0.72930|0.72930	0.3522|0.3522	M|M	0.82716|0.82716	2.605|2.605	0.42293|0.42293	D|D	0.992146|0.992146	P;D;D;D|.	0.89917|.	0.954;0.998;1.0;0.992|.	P;D;D;D|.	0.83275|.	0.848;0.957;0.996;0.955|.	T|T	0.75783|0.75783	-0.3196|-0.3196	10|6	0.87932|0.87932	D|D	0|0	-21.0522|-21.0522	7.9448|7.9448	0.29980|0.29980	0.0:0.8102:0.0:0.1898|0.0:0.8102:0.0:0.1898	.|.	319;319;319;319|.	P04637-2;P04637-3;P04637;Q1MSW8|.	.;.;P53_HUMAN;.|.	N|T	319;319;319;319;319;308;187|6	ENSP00000352610:K319N;ENSP00000269305:K319N;ENSP00000398846:K319N;ENSP00000391127:K319N;ENSP00000391478:K319N;ENSP00000425104:K187N|.	ENSP00000269305:K319N|ENSP00000402130:R6T	K|R	-|-	3|2	2|0	TP53|TP53	7517614|7517614	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.955000|0.955000	0.61496|0.61496	0.426000|0.426000	0.21363|0.21363	1.404000|1.404000	0.46819|0.46819	0.561000|0.561000	0.74099|0.74099	AAG|AGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn		0.463	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7576889	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.998	G	G	7576889	C	G	7576889	3	3	164	1	0	0	0	0	1	0	0	0	16412	912	32	1	325	1	TP53	17	7576889	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2136710	7576889	73618321	578	31366			4	128		3	3	211	C		1.339035e-05
TP53	7157	genome.wustl.edu	37	chr17	7577077	7577077	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcccctttcttgcggagattCtcttcctctgtgcgccggtc	9	15	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7577077C>G	ENST00000269305.4	-	8	1050	c.861G>C	c.(859-861)gaG>gaC	p.E287D	TP53_ENST00000445888.2_Missense_Mutation_p.E287D|TP53_ENST00000359597.4_Missense_Mutation_p.E287D|TP53_ENST00000420246.2_Missense_Mutation_p.E287D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.E287D|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	287	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.?(2)|p.E286fs*17(2)|p.E287D(2)|p.R283fs*16(2)|p.N288fs*18(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCGGAGATTCTCTTCCTCTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	49	Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - coding silent(5)|Unknown(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(20)|large_intestine(4)|urinary_tract(4)|breast(4)|bone(4)|liver(4)|stomach(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(1)|lung(1)											99	85	89					17																	7577077		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.861G>C	17.37:g.7577077C>G	ENSP00000269305:p.Glu287Asp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E287D	ENST00000269305.4	37	c.861	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	2.672	-0.277294	0.05679	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	5.12	-2.61	0.06171	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.602197	0.18632	N	0.135543	D	0.98308	0.9439	L	0.46885	1.475	0.39477	D	0.967813	B;P;B;B	0.39404	0.0;0.672;0.0;0.001	B;B;B;B	0.43386	0.003;0.418;0.015;0.012	D	0.96522	0.9386	10	0.11485	T	0.65	-7.7207	0.4001	0.00424	0.3649:0.1601:0.2487:0.2262	.	287;287;287;287	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	D	287;287;287;287;287;276;155	ENSP00000352610:E287D;ENSP00000269305:E287D;ENSP00000398846:E287D;ENSP00000391127:E287D;ENSP00000391478:E287D;ENSP00000425104:E155D	ENSP00000269305:E287D	E	-	3	2	TP53	7517802	0.003000	0.15002	0.718000	0.30602	0.110000	0.19582	-1.117000	0.03283	-0.786000	0.04516	-0.367000	0.07326	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577077	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.910	G	G	7577077	C	G	7577077	3	3	164	1	0	0	0	0	1	0	0	0	16412	912	32	1	425	1	TP53	17	7577077	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	188	7577077	73618133	579	31367			4	128		3	3	211	C		1.339035e-05
TP53	7157	genome.wustl.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	9	16	2	0	rs121912660		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7577099C>T	ENST00000269305.4	-	8	1028	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000420246.2_Missense_Mutation_p.R280K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	GRCh37	CM993218	TP53	M	rs121912660						77	67	70					17																	7577099		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>A	17.37:g.7577099C>T	ENSP00000269305:p.Arg280Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R280K	ENST00000269305.4	37	c.839	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.663043	0.96745	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;P	0.69078	0.972;0.997;0.977;0.896	D;D;D;D	0.85130	0.942;0.997;0.941;0.921	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	280;280;280;280;280;269;148	ENSP00000352610:R280K;ENSP00000269305:R280K;ENSP00000398846:R280K;ENSP00000391127:R280K;ENSP00000391478:R280K;ENSP00000425104:R148K	ENSP00000269305:R280K	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577099	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7577099	C	T	7577099	3	4	164	1	0	0	0	0	1	0	0	0	16412	913	32	1	447	1	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	22	7577099	73618111	580	31368			4	128		3	3	211	C		1.339035e-05
DNAH2	146754	genome.wustl.edu	37	chr17	7669719	7669719	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgctgatggccatgcgggaaGaggaaaatagtctccgagcc	14	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7669719G>C	ENST00000572933.1	+	22	5055	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1199Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1199	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATGCGGGAAGAGGAAAATAG	0.547																																																	0													104	88	94					17																	7669719		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3595G>C	17.37:g.7669719G>C	ENSP00000458355:p.Glu1199Gln		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E1199Q	ENST00000572933.1	37	c.3595	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603589	0.46423	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.25085	1.82	5.93	5.93	0.95920	.	0.056504	0.64402	D	0.000002	T	0.16854	0.0405	N	0.11927	0.2	0.80722	D	1	B	0.18166	0.026	B	0.17098	0.017	T	0.10064	-1.0646	10	0.21014	T	0.42	.	17.2605	0.87068	0.0:0.0:1.0:0.0	.	1199	Q9P225	DYH2_HUMAN	Q	1199	ENSP00000373825:E1199Q	ENSP00000353818:E1199Q	E	+	1	0	DNAH2	7610444	1.000000	0.71417	0.948000	0.38648	0.976000	0.68499	7.278000	0.78587	2.815000	0.96918	0.561000	0.74099	GAG	DNAH2	-	NULL		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7669719	1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	0.999	C	C	7669719	G	C	7669719	3	2	164	1	0	0	0	0	1	0	0	0	4612	943	33	1	3677	1	DNAH2	17	7669719	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	92620	7669719	73525491	581	31369										
CHD3	1107	genome.wustl.edu	37	chr17	7814210	7814210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacctccggggtacggggcgGccttcagcgccgcacccgta	14	17	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7814210G>A	ENST00000330494.7	+	39	5950	c.5800G>A	c.(5800-5802)Gcc>Acc	p.A1934T	AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.A1900T|CHD3_ENST00000380358.4_Missense_Mutation_p.A1993T	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1934	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTACGGGGCGGCCTTCAGCGC	0.617																																																	0													72	84	80					17																	7814210		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5800G>A	17.37:g.7814210G>A	ENSP00000332628:p.Ala1934Thr		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A1934T	ENST00000330494.7	37	c.5800	CCDS32554.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.171|9.171	1.021162|1.021162	0.19433|0.19433	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000439235;ENST00000449744	D;D;D|.	0.90385|.	-2.66;-2.57;-2.6|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.000000|.	0.41500|.	D|.	0.000877|.	T|T	0.23532|0.23532	0.0569|0.0569	N|N	0.03608|0.03608	-0.345|-0.345	0.36821|0.36821	D|D	0.886373|0.886373	B;B;B;B;B|.	0.15473|.	0.012;0.004;0.005;0.005;0.013|.	B;B;B;B;B|.	0.10450|.	0.003;0.001;0.005;0.002;0.003|.	T|T	0.24728|0.24728	-1.0152|-1.0152	10|6	0.22706|0.11485	T|T	0.39|0.65	-9.1399|-9.1399	8.8709|8.8709	0.35316|0.35316	0.1692:0.0:0.8308:0.0|0.1692:0.0:0.8308:0.0	.|.	913;511;1900;1934;1993|.	B4DLC6;B3KWV4;Q12873-2;Q12873;E9PG89|.	.;.;.;CHD3_HUMAN;.|.	T|D	1993;1900;1934|277;171	ENSP00000369716:A1993T;ENSP00000350907:A1900T;ENSP00000332628:A1934T|.	ENSP00000332628:A1934T|ENSP00000395252:G277D	A|G	+|+	1|2	0|0	CHD3|CHD3	7754935|7754935	0.520000|0.520000	0.26250|0.26250	0.986000|0.986000	0.45419|0.45419	0.353000|0.353000	0.29299|0.29299	1.002000|1.002000	0.29796|0.29796	2.628000|2.628000	0.89032|0.89032	0.604000|0.604000	0.83254|0.83254	GCC|GGC	CHD3	-	NULL		0.617	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7814210	1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	0.968	A	A	7814210	G	A	7814210	3	1	164	1	0	0	0	0	1	0	0	0	3331	1203	42	4	6235	4	CHD3	17	7814210	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	144491	7814210	73381000	582	31370										
SLC25A35	399512	genome.wustl.edu	37	chr17	8197858	8197858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggctgtgtgcaggtagccccCagcctcagccagcccatagg	13	15	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:8197858C>T	ENST00000577745.1	-	1	778	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	SLC25A35_ENST00000580340.1_Missense_Mutation_p.G90R|SLC25A35_ENST00000579192.1_Missense_Mutation_p.G90R|SLC25A35_ENST00000396278.1_Missense_Mutation_p.G90R|SLC25A35_ENST00000380067.2_Missense_Mutation_p.G90R			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	90					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						AGGTAGCCCCCAGCCTCAGCC	0.662																																																	0													34	34	34					17																	8197858		2203	4299	6502	SO:0001583	missense	399512			AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"Solute carriers"	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.268G>A	17.37:g.8197858C>T	ENSP00000464231:p.Gly90Arg		Q494X5|Q6RGS3|Q8N7Y5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.G90R	ENST00000577745.1	37	c.268		17	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486344	0.26686	.	.	ENSG00000125434	ENST00000380067;ENST00000396278	T;T	0.77358	-1.09;-1.09	5.39	-2.61	0.06171	Mitochondrial carrier domain (2);	0.798663	0.12083	N	0.501191	T	0.52917	0.1764	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.35450	-0.9788	10	0.10636	T	0.68	0.0111	2.4587	0.04536	0.117:0.3893:0.1154:0.3783	.	90;90	Q3KQZ1;Q3KQZ1-4	S2535_HUMAN;.	R	90	ENSP00000369407:G90R;ENSP00000379574:G90R	ENSP00000369407:G90R	G	-	1	0	SLC25A35	8138583	0.000000	0.05858	0.507000	0.27676	0.682000	0.39822	-0.114000	0.10757	-0.424000	0.07382	0.456000	0.33151	GGG	SLC25A35	-	superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.662	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	SLC25A35	HGNC	protein_coding	OTTHUMT00000442146.1	C	NM_201520		8197858	-1	no_errors	ENST00000577745	ensembl	human	known	70_37	missense	SNP	0.110	T	T	8197858	C	T	8197858	3	4	164	1	0	0	0	0	1	0	0	0	14529	594	21	4	643	4	SLC25A35	17	8197858	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	383648	8197858	72997352	583	31371										
ARHGEF15	22899	genome.wustl.edu	37	chr17	8218800	8218800	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cggctgctgaccgacaccttCgtgctgagccaggcactccg	12	16	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:8218800C>G	ENST00000361926.3	+	7	1439	c.1329C>G	c.(1327-1329)ttC>ttG	p.F443L	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.F443L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	443	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCGACACCTTCGTGCTGAGCC	0.617																																																	0													117	105	109					17																	8218800		2203	4300	6503	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1329C>G	17.37:g.8218800C>G	ENSP00000355026:p.Phe443Leu		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.F443L	ENST00000361926.3	37	c.1329	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	c	23.7	4.450627	0.84101	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.39056	1.1;1.1	5.04	-4.94	0.03057	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.85630	2.765	0.40240	D	0.977941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66909	-0.5804	10	0.87932	D	0	-24.3701	12.0728	0.53626	0.0:0.2294:0.0:0.7706	.	443;443	D3DTR7;O94989	.;ARHGF_HUMAN	L	443;233;443	ENSP00000355026:F443L;ENSP00000412505:F443L	ENSP00000355026:F443L	F	+	3	2	ARHGEF15	8159525	0.013000	0.17824	0.937000	0.37676	0.981000	0.71138	-1.001000	0.03690	-0.843000	0.04189	0.561000	0.74099	TTC	ARHGEF15	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	C	NM_173728		8218800	1	no_errors	ENST00000361926	ensembl	human	known	70_37	missense	SNP	0.885	G	G	8218800	C	G	8218800	3	3	164	1	0	0	0	0	1	0	0	0	898	883	31	1	1351	1	ARHGEF15	17	8218800	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	20942	8218800	72976410	584	31372										
ZNF18	7566	genome.wustl.edu	37	chr17	11895970	11895970	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagagcttccgaagttgcttCaaggtctcatgaggcccaga	11	11	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:11895970C>T	ENST00000322748.3	-	4	781	c.177G>A	c.(175-177)ttG>ttA	p.L59L	ZNF18_ENST00000580306.2_Silent_p.L59L|ZNF18_ENST00000454073.3_Silent_p.L59L	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	59	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GAAGTTGCTTCAAGGTCTCAT	0.537																																																	0													91	86	88					17																	11895970		2203	4300	6503	SO:0001819	synonymous_variant	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.177G>A	17.37:g.11895970C>T			Q5QHQ3|Q8IYC4|Q8NAH6	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L59	ENST00000322748.3	37	c.177	CCDS32568.1	17																																																																																			ZNF18	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.537	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	C	XM_085596		11895970	-1	no_errors	ENST00000322748	ensembl	human	known	70_37	silent	SNP	0.975	T	T	11895970	C	T	11895970	2	4	164	1	0	0	0	0	0	0	0	1	17777	825	29	1		1	ZNF18	17	11895970	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3677170	11895970	69299240	585	31373										
MAP2K4	6416	genome.wustl.edu	37	chr17	11984676	11984676	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcccaatattttaacagagaGagactgagaacacacagcat	7	9	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:11984676G>A	ENST00000353533.5	+	3	285	c.222G>A	c.(220-222)gaG>gaA	p.E74E	MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Silent_p.E85E|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	74					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTAACAGAGAGAGACTGAGAA	0.353			"D, Mis, N"		"pancreatic, breast, colorectal"																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											69	66	67					17																	11984676		2203	4300	6503	SO:0001819	synonymous_variant	6416			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.222G>A	17.37:g.11984676G>A			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E85	ENST00000353533.5	37	c.255	CCDS11162.1	17																																																																																			MAP2K4	-	NULL		0.353	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	G			11984676	1	no_errors	ENST00000415385	ensembl	human	known	70_37	silent	SNP	1.000	A	A	11984676	G	A	11984676	2	1	164	1	0	0	0	0	0	0	0	1	9262	933	33	1		1	MAP2K4	17	11984676	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	88706	11984676	69210534	586	31374										
CDRT4	284040	genome.wustl.edu	37	chr17	15341337	15341337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttttcggctgaatgacgctgGaaggtttattctgccttgat	11	7	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:15341337G>A	ENST00000312177.6	-	4	489	c.209C>T	c.(208-210)tCc>tTc	p.S70F	CDRT4_ENST00000519354.1_5'UTR|TVP23C_ENST00000519970.1_3'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	70										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		AATGACGCTGGAAGGTTTATT	0.493																																																	0													175	151	159					17																	15341337		2203	4300	6503	SO:0001583	missense	284040			BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.209C>T	17.37:g.15341337G>A	ENSP00000310031:p.Ser70Phe		A8MSL9|Q8IZ19	Missense_Mutation	SNP	superfamily_RNA_pol_subH/Rpb5_C	p.S70F	ENST00000312177.6	37	c.209		17	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709036	0.48517	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.37752	1.18	4.64	2.65	0.31530	.	1.680150	0.03036	N	0.152707	T	0.34832	0.0911	L	0.43152	1.355	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.28964	-1.0027	10	0.62326	D	0.03	-12.6849	6.8209	0.23857	0.2098:0.0:0.7902:0.0	.	70	Q8N9R6	CDRT4_HUMAN	F	71;70	ENSP00000310031:S70F	ENSP00000310031:S70F	S	-	2	0	CDRT4	15282062	0.001000	0.12720	0.001000	0.08648	0.090000	0.18270	0.184000	0.16939	0.584000	0.29591	0.591000	0.81541	TCC	CDRT4	-	superfamily_RNA_pol_subH/Rpb5_C		0.493	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	CDRT4	HGNC	protein_coding	OTTHUMT00000130383.7	G	NM_173622		15341337	-1	no_errors	ENST00000312177	ensembl	human	known	70_37	missense	SNP	0.001	A	A	15341337	G	A	15341337	3	1	164	1	0	0	0	0	1	0	0	0	3181	1174	41	1	250	1	CDRT4	17	15341337	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3356661	15341337	65853873	587	31375										
LRRC48	83450	genome.wustl.edu	37	chr17	17896144	17896144	+	Silent	SNP	G	G	A													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctaggaaccctatctctgaGgcagaggattacaagatgtt							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:17896144G>A	ENST00000399187.1	+	6	728	c.510G>A	c.(508-510)gaG>gaA	p.E170E	LRRC48_ENST00000313838.8_Silent_p.E170E|LRRC48_ENST00000411504.2_Silent_p.E170E|LRRC48_ENST00000399182.1_Silent_p.E170E|LRRC48_ENST00000584166.1_Silent_p.E170E	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	170	LRRCT.					cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CTATCTCTGAGGCAGAGGATT	0.532																																																	0													85	84	85					17																	17896144		2083	4210	6293	SO:0001819	synonymous_variant	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.510G>A	17.37:g.17896144G>A			A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	NULL	p.E170	ENST00000399187.1	37	c.510	CCDS45622.1	17																																																																																			LRRC48	-	NULL		0.532	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	G	NM_031294		17896144	1	no_errors	ENST00000313838	ensembl	human	known	70_37	silent	SNP	0.246	A	A	17896144	G	A	17896144	2	1	164	1	0	0	0	0	0	0	0	1	9028	991	35	4		4	LRRC48	17	17896144	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2554807	17896144	63299066	588	31376	201	2								
LRRC48	83450	genome.wustl.edu	37	chr17	17896148	17896148	+	Missense_Mutation	SNP	G	G	A													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggaaccctatctctgaggcaGaggattacaagatgttcatc							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:17896148G>A	ENST00000399187.1	+	6	732	c.514G>A	c.(514-516)Gag>Aag	p.E172K	LRRC48_ENST00000313838.8_Missense_Mutation_p.E172K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E172K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E172K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E172K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	172	LRRCT.					cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CTCTGAGGCAGAGGATTACAA	0.532																																																	0													87	87	87					17																	17896148		2087	4212	6299	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.514G>A	17.37:g.17896148G>A	ENSP00000382140:p.Glu172Lys		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	NULL	p.E172K	ENST00000399187.1	37	c.514	CCDS45622.1	17	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701520	0.68501	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.02	5.02	0.67125	.	0.048798	0.85682	D	0.000000	T	0.41858	0.1177	L	0.58669	1.825	0.80722	D	1	B;B	0.24132	0.059;0.098	B;B	0.20767	0.023;0.031	T	0.26780	-1.0093	10	0.32370	T	0.25	-30.4082	17.1386	0.86747	0.0:0.0:1.0:0.0	.	172;172	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	172	ENSP00000326870:E172K;ENSP00000394020:E172K;ENSP00000382140:E172K;ENSP00000382136:E172K	ENSP00000326870:E172K	E	+	1	0	LRRC48	17836873	1.000000	0.71417	0.926000	0.36857	0.901000	0.52897	6.532000	0.73825	2.331000	0.79229	0.563000	0.77884	GAG	LRRC48	-	NULL		0.532	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	G	NM_031294		17896148	1	no_errors	ENST00000313838	ensembl	human	known	70_37	missense	SNP	0.997	A	A	17896148	G	A	17896148	3	1	164	1	0	0	0	0	1	0	0	0	9028	943	33	1	528	1	LRRC48	17	17896148	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4	17896148	63299062	589	31377	201	2								
FAM83G	644815	genome.wustl.edu	37	chr17	18907093	18907093	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccattgtcctcgggcccctGagaggggcccgtgccccgag	14	17	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:18907093G>A	ENST00000388995.6	-	2	485	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q88*			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	88					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCGGGCCCCTGAGAGGGGCCC	0.701																																																	0																																										SO:0001587	stop_gained	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.262C>T	17.37:g.18907093G>A	ENSP00000373647:p.Gln88*		Q3KQZ4|Q6ZW60	Nonsense_Mutation	SNP	pfam_DUF1669	p.Q88*	ENST00000388995.6	37	c.262	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.087375	0.97271	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	.	.	.	4.79	1.22	0.21188	.	7.777730	0.00589	U	0.000352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-3.6454	8.642	0.33983	0.0993:0.2826:0.6181:0.0	.	.	.	.	X	88	.	ENSP00000343279:Q88X	Q	-	1	0	FAM83G	18847818	0.000000	0.05858	0.004000	0.12327	0.305000	0.27757	0.222000	0.17699	0.985000	0.38656	0.491000	0.48974	CAG	FAM83G	-	pfam_DUF1669		0.701	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	G			18907093	-1	no_errors	ENST00000345041	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	18907093	G	A	18907093	4	1	164	1	0	0	0	0	0	1	0	0	5657	1299	45	1	2229	1	FAM83G	17	18907093	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1010945	18907093	62288117	590	31378										
FKBP10	60681	genome.wustl.edu	37	chr17	39977282	39977282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacgggcctgcagggcatgtGtgtgggagagaggcggcagc	20	9	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:39977282G>A	ENST00000321562.4	+	8	1444	c.1340G>A	c.(1339-1341)tGt>tAt	p.C447Y	FKBP10_ENST00000544340.1_Missense_Mutation_p.C220Y	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	447	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CAGGGCATGTGTGTGGGAGAG	0.607																																																	0													15	16	15					17																	39977282		2196	4294	6490	SO:0001583	missense	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1340G>A	17.37:g.39977282G>A	ENSP00000317232:p.Cys447Tyr		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.C447Y	ENST00000321562.4	37	c.1340	CCDS11409.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.192772|5.192772	0.94960|0.94960	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340|ENST00000455106	D;D|.	0.85861|.	-2.04;-2.04|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84741|0.84741	0.5539|0.5539	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.86707|0.86707	0.1933|0.1933	10|5	0.52906|.	T|.	0.07|.	-27.1061|-27.1061	19.0913|19.0913	0.93228|0.93228	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220;447|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	Y|M	335;447;447;220|251	ENSP00000317232:C447Y;ENSP00000442009:C220Y|.	ENSP00000269598:C335Y|.	C|V	+|+	2|1	0|0	FKBP10|FKBP10	37230808|37230808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.642000|9.642000	0.98461|0.98461	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	TGT|GTG	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.607	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	G	NM_021939		39977282	1	no_errors	ENST00000321562	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39977282	G	A	39977282	3	1	164	1	0	0	0	0	1	0	0	0	5920	1377	48	4	1370	4	FKBP10	17	39977282	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	21070189	39977282	41217928	591	31379										
KCNH4	23415	genome.wustl.edu	37	chr17	40317508	40317508	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caggttgaaggtgaggtcccGgggcaggccagcccggaagg	19	10	0	2	rs149532318		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:40317508G>C	ENST00000264661.3	-	11	2376	c.2044C>G	c.(2044-2046)Cgg>Ggg	p.R682G	KCNH4_ENST00000607371.1_Missense_Mutation_p.R682G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	682					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTGAGGTCCCGGGGCAGGCCA	0.627																																					NSCLC(117;707 1703 2300 21308 31858)												0													71	68	69					17																	40317508		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2044C>G	17.37:g.40317508G>C	ENSP00000264661:p.Arg682Gly			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R682G	ENST00000264661.3	37	c.2044	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	G	5.117	0.207128	0.09704	.	.	ENSG00000089558	ENST00000264661	D	0.98649	-5.05	3.92	2.95	0.34219	Cyclic nucleotide-binding-like (1);	0.000000	0.34802	N	0.003672	D	0.95799	0.8633	L	0.29908	0.895	0.40564	D	0.98123	B	0.11235	0.004	B	0.14023	0.01	D	0.93293	0.6670	10	0.29301	T	0.29	.	13.3217	0.60436	0.0:0.0:0.8407:0.1593	.	682	Q9UQ05	KCNH4_HUMAN	G	682	ENSP00000264661:R682G	ENSP00000264661:R682G	R	-	1	2	KCNH4	37571034	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.561000	0.60809	1.017000	0.39495	-0.226000	0.12346	CGG	KCNH4	-	superfamily_cNMP-bd-like		0.627	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	G	NM_012285		40317508	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40317508	G	C	40317508	3	2	164	1	0	0	0	0	1	0	0	0	8054	1115	39	2	1033	2	KCNH4	17	40317508	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	340226	40317508	40877702	592	31380										
NMT1	4836	genome.wustl.edu	37	chr17	43138707	43138707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgcaactcaagatggcggacGagagtgagacagcagtgaag	15	8	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:43138707G>A	ENST00000592782.1	+	2	141	c.10G>A	c.(10-12)Gag>Aag	p.E4K	NMT1_ENST00000258960.2_Missense_Mutation_p.E4K|DCAKD_ENST00000310604.4_5'Flank|DCAKD_ENST00000342350.5_5'Flank|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	4					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GATGGCGGACGAGAGTGAGAC	0.592																																																	0													40	40	40					17																	43138707		2203	4300	6503	SO:0001583	missense	4836				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.10G>A	17.37:g.43138707G>A	ENSP00000468424:p.Glu4Lys		A8K7C1|Q9UE09	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.E4K	ENST00000592782.1	37	c.10	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576215	0.65878	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.50277	0.88;0.75	5.93	4.97	0.65823	.	0.104471	0.64402	D	0.000005	T	0.32102	0.0818	N	0.19112	0.55	0.47308	D	0.999381	B	0.24426	0.103	B	0.17098	0.017	T	0.13683	-1.0500	10	0.56958	D	0.05	-12.0224	10.365	0.44017	0.0708:0.1344:0.7948:0.0	.	4	P30419	NMT1_HUMAN	K	4	ENSP00000258960:E4K;ENSP00000439263:E4K	ENSP00000258960:E4K	E	+	1	0	NMT1	40494233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.470000	0.60175	1.529000	0.49120	0.655000	0.94253	GAG	NMT1	-	NULL		0.592	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	G	NM_021079		43138707	1	no_errors	ENST00000258960	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43138707	G	A	43138707	3	1	164	1	0	0	0	0	1	0	0	0	10527	1059	37	1	12	1	NMT1	17	43138707	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2821199	43138707	38056503	593	31381										
MAPT	4137	genome.wustl.edu	37	chr17	44101491	44101491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agactcgccccagctcgccaCgctagctgacgaggtgtctg	12	15	1	2	rs63750991		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:44101491C>T	ENST00000571987.1	+	13	2231	c.2231C>T	c.(2230-2232)aCg>aTg	p.T744M	MAPT_ENST00000535772.1_Missense_Mutation_p.T396M|MAPT_ENST00000340799.5_Missense_Mutation_p.T398M|MAPT_ENST00000262410.5_Missense_Mutation_p.T744M|MAPT_ENST00000334239.8_Missense_Mutation_p.T338M|MAPT_ENST00000351559.5_Missense_Mutation_p.T427M|MAPT_ENST00000420682.2_Missense_Mutation_p.T398M|MAPT_ENST00000344290.5_Missense_Mutation_p.T762M|MAPT_ENST00000415613.2_Missense_Mutation_p.T762M|MAPT_ENST00000347967.5_Missense_Mutation_p.T302M|MAPT_ENST00000576518.1_Missense_Mutation_p.T327M|MAPT_ENST00000431008.3_Missense_Mutation_p.T396M|MAPT_ENST00000574436.1_Missense_Mutation_p.T427M|MAPT_ENST00000446361.3_Missense_Mutation_p.T369M			P10636	TAU_HUMAN	microtubule-associated protein tau	744					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CAGCTCGCCACGCTAGCTGAC	0.597																																																	0			GRCh37	CM043765	MAPT	M	rs63750991						86	77	80					17																	44101491		2203	4300	6503	SO:0001583	missense	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.2231C>T	17.37:g.44101491C>T	ENSP00000458742:p.Thr744Met		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein	p.T762M	ENST00000571987.1	37	c.2285	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489537	0.84962	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	T;T;T;T;T;T;T;T	0.29655	1.96;1.99;1.73;1.7;1.95;1.56;1.7;1.96	4.57	4.57	0.56435	.	0.000000	0.41605	D	0.000858	T	0.45478	0.1344	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.994;0.993;0.993;0.997;0.994	T	0.48725	-0.9010	10	0.87932	D	0	-8.8333	15.9429	0.79771	0.0:1.0:0.0:0.0	rs63750991	762;398;345;338;369;427;744	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	M	762;744;427;398;396;302;345;338;369;398;762;250	ENSP00000340820:T762M;ENSP00000262410:T744M;ENSP00000303214:T427M;ENSP00000340438:T398M;ENSP00000443028:T396M;ENSP00000302706:T302M;ENSP00000413056:T398M;ENSP00000410838:T762M	ENSP00000262410:T744M	T	+	2	0	MAPT	41457336	1.000000	0.71417	0.976000	0.42696	0.920000	0.55202	7.818000	0.86416	2.097000	0.63578	0.655000	0.94253	ACG	MAPT	-	NULL		0.597	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	C	NM_016835		44101491	1	no_errors	ENST00000344290	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44101491	C	T	44101491	3	4	164	1	0	0	0	0	1	0	0	0	9320	536	19	2	2339	2	MAPT	17	44101491	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	962784	44101491	37093719	594	31382										
HOXB2	3212	genome.wustl.edu	37	chr17	46622224	46622224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagtcagacactcggcgagcGacggctggctgtttataaac	12	10	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:46622224G>A	ENST00000330070.4	-	1	1217	c.50C>T	c.(49-51)tCg>tTg	p.S17L	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	17					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CTCGGCGAGCGACGGCTGGCT	0.532																																																	0																																										SO:0001583	missense	3212				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"Homeoboxes / ANTP class : HOXL subclass"	5113	protein-coding gene	gene with protein product		142967	"homeo box B2"	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.50C>T	17.37:g.46622224G>A	ENSP00000331741:p.Ser17Leu		P10913|P17485	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S17L	ENST00000330070.4	37	c.50	CCDS11527.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.243937	0.95272	.	.	ENSG00000173917	ENST00000330070	D	0.91295	-2.82	4.62	4.62	0.57501	.	0.072289	0.56097	D	0.000022	D	0.91653	0.7362	L	0.58510	1.815	0.80722	D	1	D	0.69078	0.997	P	0.51193	0.662	D	0.92811	0.6264	10	0.87932	D	0	.	16.8006	0.85613	0.0:0.0:1.0:0.0	.	17	P14652	HXB2_HUMAN	L	17	ENSP00000331741:S17L	ENSP00000331741:S17L	S	-	2	0	HOXB2	43977223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.101000	0.94219	2.560000	0.86352	0.650000	0.86243	TCG	HOXB2	-	NULL		0.532	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	G			46622224	-1	no_errors	ENST00000330070	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46622224	G	A	46622224	3	1	164	1	0	0	0	0	1	0	0	0	7321	1059	37	1	1028	1	HOXB2	17	46622224	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2520733	46622224	34572986	595	31383										
LPO	4025	genome.wustl.edu	37	chr17	56343535	56343535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggaattgatcctctggtgcGgggcctgctggccaagaaat	14	9	1	2	rs8178401		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:56343535G>A	ENST00000262290.4	+	11	1857	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	LPO_ENST00000421678.2_Missense_Mutation_p.R431Q|LPO_ENST00000582328.1_Missense_Mutation_p.R431Q|LPO_ENST00000543544.1_Missense_Mutation_p.R455Q	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	514			R -> Q (in dbSNP:rs8178401). {ECO:0000269|Ref.3}.		defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCTCTGGTGCGGGGCCTGCTG	0.532																																																	0													56	49	51					17																	56343535		2203	4300	6503	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1541G>A	17.37:g.56343535G>A	ENSP00000262290:p.Arg514Gln		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R514Q	ENST00000262290.4	37	c.1541	CCDS32689.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.312298	0.95655	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.70399	-0.48;-0.48;-0.48	6.06	5.1	0.69264	.	0.049849	0.85682	N	0.000000	D	0.85660	0.5748	M	0.86420	2.815	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88293	0.2944	10	0.87932	D	0	-36.0285	14.3163	0.66452	0.0704:0.0:0.9296:0.0	rs8178401	431;514	E7EMJ3;P22079	.;PERL_HUMAN	Q	514;431;455;259	ENSP00000262290:R514Q;ENSP00000400245:R431Q;ENSP00000445344:R455Q	ENSP00000262290:R514Q	R	+	2	0	LPO	53698534	0.999000	0.42202	0.950000	0.38849	0.995000	0.86356	9.406000	0.97321	1.572000	0.49736	0.655000	0.94253	CGG	LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.532	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	G			56343535	1	no_errors	ENST00000262290	ensembl	human	known	70_37	missense	SNP	0.789	A	A	56343535	G	A	56343535	3	1	164	1	0	0	0	0	1	0	0	0	8945	1116	39	2	1579	2	LPO	17	56343535	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	9721311	56343535	24851675	596	31384										
C17orf71	55181	genome.wustl.edu	37	chr17	57292169	57292169	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctacctgtgtttttcaggttCagccaggcccaccaccatgt	8	14	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:57292169C>T	ENST00000543872.2	+	5	3046	c.2782C>T	c.(2782-2784)Cag>Tag	p.Q928*	CTD-2510F5.6_ENST00000577660.1_Nonsense_Mutation_p.Q47*|SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q928*			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	928					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTTTCAGGTTCAGCCAGGCCC	0.388																																																	0													82	78	79					17																	57292169		2203	4300	6503	SO:0001587	stop_gained	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2782C>T	17.37:g.57292169C>T	ENSP00000438748:p.Gln928*		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Nonsense_Mutation	SNP	pfam_Smg8/Smg9	p.Q928*	ENST00000543872.2	37	c.2782	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.339020	0.99142	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-15.2876	18.8899	0.92395	0.0:1.0:0.0:0.0	.	.	.	.	X	928	.	ENSP00000300917:Q928X	Q	+	1	0	SMG8	54646951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.245000	0.78237	2.707000	0.92482	0.561000	0.74099	CAG	SMG8	-	pfam_Smg8/Smg9		0.388	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	C	NM_018149		57292169	1	no_errors	ENST00000300917	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	57292169	C	T	57292169	4	4	164	1	0	0	0	0	0	1	0	0	1882	827	29	1	2796	1	C17orf71	17	57292169	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	948634	57292169	23903041	597	31385										
TLK2	11011	genome.wustl.edu	37	chr17	60642387	60642387	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acaagagaagatggcgtgtaGagataagagcatgcaagacc	13	6	0	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:60642387G>C	ENST00000326270.9	+	11	1125	c.857G>C	c.(856-858)aGa>aCa	p.R286T	TLK2_ENST00000346027.5_Missense_Mutation_p.R286T|TLK2_ENST00000343388.7_Missense_Mutation_p.R254T|TLK2_ENST00000582809.1_Missense_Mutation_p.R137T|TLK2_ENST00000542523.1_Missense_Mutation_p.R254T	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	286					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATGGCGTGTAGAGATAAGAGC	0.413																																																	0													108	91	97					17																	60642387		2203	4300	6503	SO:0001583	missense	11011			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.857G>C	17.37:g.60642387G>C	ENSP00000316512:p.Arg286Thr		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R286T	ENST00000326270.9	37	c.857		17	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906070	0.52333	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.75154	-0.82;-0.91;-0.81;-0.91	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.85130	0.997;0.991;0.991;0.992	D	0.90092	0.4178	10	0.87932	D	0	.	17.2555	0.87055	0.0:0.0:1.0:0.0	.	286;254;286;286	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	T	286;254;286;254	ENSP00000275780:R286T;ENSP00000340800:R254T;ENSP00000316512:R286T;ENSP00000442311:R254T	ENSP00000316512:R286T	R	+	2	0	TLK2	57996119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.558000	0.86282	0.655000	0.94253	AGA	TLK2	-	NULL		0.413	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	G	NM_006852		60642387	1	no_errors	ENST00000326270	ensembl	human	known	70_37	missense	SNP	1.000	C	C	60642387	G	C	60642387	3	2	164	1	0	0	0	0	1	0	0	0	15974	942	33	1	895	1	TLK2	17	60642387	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3350218	60642387	20552823	598	31386										
AXIN2	8313	genome.wustl.edu	37	chr17	63534325	63534325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcctaggccgcattacctctCggatctgctgcaggcgctcc	11	16	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:63534325C>T	ENST00000375702.5	-	4	1304	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	AXIN2_ENST00000307078.5_Missense_Mutation_p.R399Q|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	399	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CATTACCTCTCGGATCTGCTG	0.612									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0													67	54	59					17																	63534325		2203	4300	6503	SO:0001583	missense	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1196G>A	17.37:g.63534325C>T	ENSP00000364854:p.Arg399Gln		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.R399Q	ENST00000375702.5	37	c.1196		17	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421550	0.43020	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.93659	-3.26;-3.26	4.68	2.54	0.30619	.	0.291643	0.34652	N	0.003788	T	0.82190	0.4983	N	0.10809	0.05	0.27568	N	0.949968	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.0	T	0.71629	-0.4535	10	0.44086	T	0.13	-11.4675	3.9645	0.09424	0.0:0.3667:0.377:0.2563	.	399;399;399	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	Q	399	ENSP00000302625:R399Q;ENSP00000364854:R399Q	ENSP00000302625:R399Q	R	-	2	0	AXIN2	60964787	0.983000	0.35010	0.976000	0.42696	0.872000	0.50106	1.535000	0.36061	1.191000	0.43056	0.555000	0.69702	CGA	AXIN2	-	NULL		0.612	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	C	NM_004655		63534325	-1	no_errors	ENST00000307078	ensembl	human	known	70_37	missense	SNP	0.944	T	T	63534325	C	T	63534325	3	4	164	1	0	0	0	0	1	0	0	0	1238	884	31	1	1363	1	AXIN2	17	63534325	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2891938	63534325	17660885	599	31387										
SDK2	54549	genome.wustl.edu	37	chr17	71354234	71354234	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcacctgaaggtctggcctcGatgacgtagcgggtgatggg	17	9	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:71354234G>C	ENST00000392650.3	-	40	5577	c.5577C>G	c.(5575-5577)atC>atG	p.I1859M	SDK2_ENST00000388726.3_Missense_Mutation_p.I1840M|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1859	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						GTCTGGCCTCGATGACGTAGC	0.647																																																	0													150	142	144					17																	71354234		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5577C>G	17.37:g.71354234G>C	ENSP00000376421:p.Ile1859Met		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I1859M	ENST00000392650.3	37	c.5577	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234661	0.58886	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.64085	-0.08;-0.08;-0.08	5.12	-3.82	0.04281	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051712	0.85682	D	0.000000	T	0.79076	0.4385	M	0.92026	3.265	0.40445	D	0.980088	D;D;D	0.76494	0.999;0.992;0.981	D;D;D	0.67103	0.949;0.936;0.949	T	0.83109	-0.0124	10	0.87932	D	0	.	15.0692	0.72021	0.0903:0.0:0.6704:0.2393	.	1859;1859;1840	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	M	1483;1859;1840;1016;1859;200	ENSP00000376421:I1859M;ENSP00000373378:I1840M;ENSP00000407098:I1016M	ENSP00000324967:I1859M	I	-	3	3	SDK2	68865829	0.748000	0.28294	0.972000	0.41901	0.989000	0.77384	-0.309000	0.08145	-0.689000	0.05149	-0.262000	0.10625	ATC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	G	NM_019064		71354234	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	missense	SNP	0.901	C	C	71354234	G	C	71354234	3	2	164	1	0	0	0	0	1	0	0	0	13999	1048	37	1	965	1	SDK2	17	71354234	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7819909	71354234	9840976	600	31388										
GPR142	350383	genome.wustl.edu	37	chr17	72368270	72368270	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagagacaccgactcacccaGaacactggacgaggtcctca	10	14	2	2	rs202167160	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:72368270G>C	ENST00000335666.4	+	4	968	c.920G>C	c.(919-921)aGa>aCa	p.R307T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	307						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GACTCACCCAGAACACTGGAC	0.597																																																	0													153	114	127					17																	72368270		2203	4300	6503	SO:0001583	missense	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.920G>C	17.37:g.72368270G>C	ENSP00000335158:p.Arg307Thr		A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R307T	ENST00000335666.4	37	c.920	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.376096	0.01214	.	.	ENSG00000257008	ENST00000335666	T	0.71341	-0.56	4.62	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.208121	0.49916	D	0.000125	T	0.34279	0.0892	N	0.01048	-1.04	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24012	-1.0172	10	0.10111	T	0.7	-24.3051	8.4255	0.32727	0.0902:0.2068:0.703:0.0	.	307;1269	Q7Z601;Q8NGB0	GP142_HUMAN;.	T	307	ENSP00000335158:R307T	ENSP00000335158:R307T	R	+	2	0	GPR142	69879865	0.519000	0.26242	0.913000	0.36048	0.017000	0.09413	2.631000	0.46502	2.524000	0.85096	0.556000	0.70494	AGA	GPR142	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	G	NM_181790		72368270	1	no_errors	ENST00000335666	ensembl	human	known	70_37	missense	SNP	0.841	C	C	72368270	G	C	72368270	3	2	164	1	0	0	0	0	1	0	0	0	6669	942	33	1	934	1	GPR142	17	72368270	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1014036	72368270	8826940	601	31389										
GPR142	350383	genome.wustl.edu	37	chr17	72368289	72368289	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agaacactggacgaggtcctCaagtgggctcactgtctcac	11	12	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:72368289C>G	ENST00000335666.4	+	4	987	c.939C>G	c.(937-939)ctC>ctG	p.L313L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	313						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						ACGAGGTCCTCAAGTGGGCTC	0.597																																																	0													174	127	143					17																	72368289		2203	4300	6503	SO:0001819	synonymous_variant	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.939C>G	17.37:g.72368289C>G			A4CYJ8|Q86SL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L313	ENST00000335666.4	37	c.939	CCDS11698.1	17																																																																																			GPR142	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	C	NM_181790		72368289	1	no_errors	ENST00000335666	ensembl	human	known	70_37	silent	SNP	1.000	G	G	72368289	C	G	72368289	2	3	164	1	0	0	0	0	0	0	0	1	6669	813	29	1		1	GPR142	17	72368289	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	19	72368289	8826921	602	31390										
NAT9	26151	genome.wustl.edu	37	chr17	72767952	72767952	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgatgctcggactcactcaCtgtcagtctgagggtcacct	10	13	5	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:72767952C>G	ENST00000357814.3	-	7	608	c.535G>C	c.(535-537)Gtg>Ctg	p.V179L	NAT9_ENST00000578822.1_Missense_Mutation_p.V184L|NAT9_ENST00000582524.1_Missense_Mutation_p.S139T|NAT9_ENST00000582870.1_Missense_Mutation_p.V183L|NAT9_ENST00000581136.1_Missense_Mutation_p.V174L|NAT9_ENST00000583757.1_Missense_Mutation_p.S138T|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000580301.1_Missense_Mutation_p.V178L|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000580632.1_Missense_Mutation_p.V179L	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	179	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GACTCACTCACTGTCAGTCTG	0.557																																																	0													73	70	71					17																	72767952		2203	4300	6503	SO:0001583	missense	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.535G>C	17.37:g.72767952C>G	ENSP00000350467:p.Val179Leu		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.V179L	ENST00000357814.3	37	c.535	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	C	5.792	0.330474	0.10956	.	.	ENSG00000109065	ENST00000357814	T	0.42131	0.98	4.99	-7.3	0.01446	.	0.477607	0.20981	N	0.082208	T	0.41650	0.1168	M	0.80847	2.515	0.53688	D	0.999977	B;B	0.16802	0.019;0.012	B;B	0.18263	0.021;0.014	T	0.47497	-0.9113	10	0.14656	T	0.56	-6.7765	21.7112	0.99959	0.0:0.8447:0.0:0.1553	.	178;179	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	L	179	ENSP00000350467:V179L	ENSP00000350467:V179L	V	-	1	0	NAT9	70279547	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.469000	0.06648	-1.368000	0.02149	-0.459000	0.05422	GTG	NAT9	-	NULL		0.557	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	C	NM_015654		72767952	-1	no_errors	ENST00000357814	ensembl	human	known	70_37	missense	SNP	0.020	G	G	72767952	C	G	72767952	3	3	164	1	0	0	0	0	1	0	0	0	10205	565	20	4	92	4	NAT9	17	72767952	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	399663	72767952	8427258	603	31391										
SEPT9	10801	genome.wustl.edu	37	chr17	75398439	75398439	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtggagaacgccggggccatCggcccgtcccggttcgggct	17	14	0	1	rs573465338		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:75398439C>T	ENST00000427177.1	+	3	501	c.375C>T	c.(373-375)atC>atT	p.I125I	SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Silent_p.I118I|SEPT9_ENST00000590294.1_Silent_p.I107I|SEPT9_ENST00000329047.8_Silent_p.I107I|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Silent_p.I106I	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	125					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CCGGGGCCATCGGCCCGTCCC	0.687													C|||	1	0.000199681	0	0.0014	5008	,	,		14379	0		0	False		,,,				2504	0																0													13	17	16					17																	75398439		2032	4163	6195	SO:0001819	synonymous_variant	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.375C>T	17.37:g.75398439C>T			A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1	p.I125	ENST00000427177.1	37	c.375	CCDS45790.1	17																																																																																			SEPT9	-	NULL		0.687	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	HGNC	protein_coding	OTTHUMT00000436304.2	C	NM_006640		75398439	1	no_errors	ENST00000427177	ensembl	human	known	70_37	silent	SNP	0.240	T	T	75398439	C	T	75398439	2	4	164	1	0	0	0	0	0	0	0	1	14101	874	31	1		1	SEPT9	17	75398439	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2630487	75398439	5796771	604	31392										
CYTH1	9267	genome.wustl.edu	37	chr17	76676417	76676417	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attgtcggggatataaagctCaaagcagttctgagaatcaa	10	6	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:76676417C>G	ENST00000446868.3	-	13	1043	c.973G>C	c.(973-975)Gag>Cag	p.E325Q	CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Missense_Mutation_p.E266Q|CYTH1_ENST00000591455.1_Missense_Mutation_p.E324Q|CYTH1_ENST00000361101.4_Missense_Mutation_p.E325Q|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000589297.1_Missense_Mutation_p.E266Q			Q15438	CYH1_HUMAN	cytohesin 1	325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ATATAAAGCTCAAAGCAGTTC	0.488																																																	0													60	56	58					17																	76676417		2203	4300	6503	SO:0001583	missense	9267			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.973G>C	17.37:g.76676417C>G	ENSP00000389095:p.Glu325Gln		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E325Q	ENST00000446868.3	37	c.973		17	.	.	.	.	.	.	.	.	.	.	C	34	5.367199	0.95900	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.75589	-0.95;-0.95	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83578	0.0116	10	0.37606	T	0.19	.	19.933	0.97127	0.0:1.0:0.0:0.0	.	324	Q15438-2	.	Q	325;325;266;266;324;162	ENSP00000389095:E325Q;ENSP00000354398:E325Q	ENSP00000262763:E324Q	E	-	1	0	CYTH1	74188012	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.659000	0.83766	2.805000	0.96524	0.650000	0.86243	GAG	CYTH1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.488	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CYTH1	HGNC	protein_coding	OTTHUMT00000317099.1	C	NM_004762		76676417	-1	no_errors	ENST00000361101	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76676417	C	G	76676417	3	3	164	1	0	0	0	0	1	0	0	0	4208	835	29	1	231	1	CYTH1	17	76676417	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1277978	76676417	4518793	605	31393										
GAA	2548	genome.wustl.edu	37	chr17	78086747	78086747	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cggcttcctgggcaacacctCagaggagctgtgtgtgcgct	14	12	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:78086747C>T	ENST00000302262.3	+	14	2180	c.1961C>T	c.(1960-1962)tCa>tTa	p.S654L	GAA_ENST00000390015.3_Missense_Mutation_p.S654L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	654					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGCAACACCTCAGAGGAGCTG	0.642																																																	0													18	20	20					17																	78086747		2201	4299	6500	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1961C>T	17.37:g.78086747C>T	ENSP00000305692:p.Ser654Leu		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.S654L	ENST00000302262.3	37	c.1961	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584276	0.65992	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.93547	-3.24;-3.24	4.9	4.9	0.64082	Glycoside hydrolase, superfamily (1);	0.226751	0.36555	N	0.002534	D	0.95211	0.8447	M	0.85630	2.765	0.09310	N	1	B	0.30727	0.292	B	0.43155	0.41	D	0.91193	0.4985	10	0.72032	D	0.01	-16.485	13.789	0.63128	0.1541:0.8459:0.0:0.0	.	654	P10253	LYAG_HUMAN	L	654	ENSP00000305692:S654L;ENSP00000374665:S654L	ENSP00000305692:S654L	S	+	2	0	GAA	75701342	0.000000	0.05858	0.226000	0.23910	0.950000	0.60333	1.115000	0.31209	2.257000	0.74773	0.561000	0.74099	TCA	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.642	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	C			78086747	1	no_errors	ENST00000302262	ensembl	human	known	70_37	missense	SNP	0.003	T	T	78086747	C	T	78086747	3	4	164	1	0	0	0	0	1	0	0	0	6165	838	29	1	2011	1	GAA	17	78086747	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1410330	78086747	3108463	606	31394										
HGS	9146	genome.wustl.edu	37	chr17	79667754	79667754	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcccaggccccacagagcctCccggccatctctcagcctcc	7	22	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:79667754C>T	ENST00000329138.4	+	20	2181	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	SLC25A10_ENST00000571730.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000541223.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	682	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CACAGAGCCTCCCGGCCATCT	0.657																																																	0													31	32	32					17																	79667754		2203	4300	6503	SO:0001819	synonymous_variant	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2046C>T	17.37:g.79667754C>T			Q9NR36	Silent	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.L682	ENST00000329138.4	37	c.2046	CCDS11784.1	17																																																																																			HGS	-	pirsf_Ubi-bd_Hrs_VPS27		0.657	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	C	NM_004712		79667754	1	no_errors	ENST00000329138	ensembl	human	known	70_37	silent	SNP	1.000	T	T	79667754	C	T	79667754	2	4	164	1	0	0	0	0	0	0	0	1	7107	842	30	1		1	HGS	17	79667754	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1581007	79667754	1527456	607	31395										
P4HB	5034	genome.wustl.edu	37	chr17	79801944	79801944	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcctccatgtctggctcctCtgcttcttccaggtcctcga							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:79801944C>T	ENST00000331483.4	-	11	1693	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	P4HB_ENST00000439918.2_Missense_Mutation_p.E447K|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'Flank|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	491					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCTGGCTCCTCTGCTTCTTCC	0.617																																					Colon(49;444 983 1296 7887 42561)												0													193	190	191					17																	79801944		2203	4300	6503	SO:0001583	missense	5034			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1471G>A	17.37:g.79801944C>T	ENSP00000327801:p.Glu491Lys		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.E491K	ENST00000331483.4	37	c.1471	CCDS11787.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.951305|3.951305	0.73787|0.73787	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593	T|.	0.03717|.	3.83|.	5.47|5.47	3.41|3.41	0.39046|0.39046	Thioredoxin-like fold (1);|.	0.230747|.	0.44483|.	D|.	0.000458|.	T|T	0.41971|0.41971	0.1182|0.1182	N|N	0.19112|0.19112	0.55|0.55	0.37116|0.37116	D|D	0.900581|0.900581	B|.	0.20780|.	0.048|.	B|.	0.24394|.	0.053|.	T|T	0.35968|0.35968	-0.9767|-0.9767	10|5	0.13470|.	T|.	0.59|.	.|.	11.9391|11.9391	0.52890|0.52890	0.1404:0.7321:0.1274:0.0|0.1404:0.7321:0.1274:0.0	.|.	491|.	P07237|.	PDIA1_HUMAN|.	K|K	491;434;475|256	ENSP00000327801:E491K|.	ENSP00000327801:E491K|.	E|R	-|-	1|2	0|0	P4HB|P4HB	77395233|77395233	0.996000|0.996000	0.38824|0.38824	0.013000|0.013000	0.15412|0.15412	0.979000|0.979000	0.70002|0.70002	4.092000|4.092000	0.57707|0.57707	0.621000|0.621000	0.30232|0.30232	0.655000|0.655000	0.94253|0.94253	GAG|AGA	P4HB	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase		0.617	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	C	NM_000918		79801944	-1	no_errors	ENST00000331483	ensembl	human	known	70_37	missense	SNP	0.620	T	T	79801944	C	T	79801944	3	4	164	1	0	0	0	0	1	0	0	0	11383	922	32	1	59	1	P4HB	17	79801944	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	134190	79801944	1393266	608	31396	202	2								
P4HB	5034	genome.wustl.edu	37	chr17	79801950	79801950	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	catgtctggctcctctgcttCttccaggtcctcgagatcct							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:79801950C>T	ENST00000331483.4	-	11	1687	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	P4HB_ENST00000439918.2_Missense_Mutation_p.E445K|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'Flank|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	489					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.E489S(1)|p.E489*(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCTCTGCTTCTTCCAGGTCC	0.607																																					Colon(49;444 983 1296 7887 42561)												2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(2)											181	181	181					17																	79801950		2203	4300	6503	SO:0001583	missense	5034			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1465G>A	17.37:g.79801950C>T	ENSP00000327801:p.Glu489Lys		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.E489K	ENST00000331483.4	37	c.1465	CCDS11787.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.266503|4.266503	0.80358|0.80358	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593	T|.	0.03920|.	3.76|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Thioredoxin-like fold (1);|.	0.665977|.	0.15229|.	N|.	0.273503|.	T|T	0.37517|0.37517	0.1006|0.1006	N|N	0.08118|0.08118	0|0	0.48236|0.48236	D|D	0.999614|0.999614	B|.	0.30482|.	0.281|.	B|.	0.27796|.	0.083|.	T|T	0.27191|0.27191	-1.0081|-1.0081	10|5	0.48119|.	T|.	0.1|.	.|.	13.0723|13.0723	0.59068|0.59068	0.0:0.9163:0.0:0.0837|0.0:0.9163:0.0:0.0837	.|.	489|.	P07237|.	PDIA1_HUMAN|.	K|K	489;432;473|254	ENSP00000327801:E489K|.	ENSP00000327801:E489K|.	E|R	-|-	1|2	0|0	P4HB|P4HB	77395239|77395239	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.938000|0.938000	0.57974|0.57974	4.087000|4.087000	0.57671|0.57671	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GAA|AGA	P4HB	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase		0.607	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	C	NM_000918		79801950	-1	no_errors	ENST00000331483	ensembl	human	known	70_37	missense	SNP	0.997	T	T	79801950	C	T	79801950	3	4	164	1	0	0	0	0	1	0	0	0	11383	922	32	1	65	1	P4HB	17	79801950	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	6	79801950	1393260	609	31397	202	2								
PTPRM	5797	genome.wustl.edu	37	chr18	8387204	8387204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggcaagaggagtacaatggCggggaaggccgcacggttgt	18	7	0	1	rs376481019		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:8387204C>T	ENST00000332175.8	+	29	5177	c.4140C>T	c.(4138-4140)ggC>ggT	p.G1380G	PTPRM_ENST00000400060.4_Silent_p.G1394G|PTPRM_ENST00000580170.1_Silent_p.G1393G|PTPRM_ENST00000400053.4_Silent_p.G1318G|PTPRM_ENST00000444013.1_Silent_p.G1167G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1380	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTACAATGGCGGGGAAGGCC	0.552																																																	0								T	,	0,4406		0,0,2203	86	74	78		4179,4140	-9.6	0	18		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1393/1466,1380/1453	8387204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4140C>T	18.37:g.8387204C>T			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G1394	ENST00000332175.8	37	c.4182	CCDS11840.1	18																																																																																			PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.552	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	C			8387204	1	no_errors	ENST00000400060	ensembl	human	known	70_37	silent	SNP	0.001	T	T	8387204	C	T	8387204	2	4	164	1	0	0	0	0	0	0	0	1	12836	755	27	2		2	PTPRM	18	8387204	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09		8387204	69690044	610	31398										
FAM38B	63895	genome.wustl.edu	37	chr18	10762946	10762946	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acagttaacagagaagttctCaggcttaatggtttggagct	11	6	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:10762946C>G	ENST00000503781.3	-	20	3021	c.3022G>C	c.(3022-3024)Gag>Cag	p.E1008Q	PIEZO2_ENST00000580640.1_Missense_Mutation_p.E1033Q|PIEZO2_ENST00000302079.6_Missense_Mutation_p.E1008Q|PIEZO2_ENST00000383408.2_Missense_Mutation_p.E296Q	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1008					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GAGAAGTTCTCAGGCTTAATG	0.512																																																	0													119	103	108					18																	10762946		692	1591	2283	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.3022G>C	18.37:g.10762946C>G	ENSP00000421377:p.Glu1008Gln		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.E1022Q	ENST00000503781.3	37	c.3064		18	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126259	0.20959	.	.	ENSG00000154864	ENST00000302079;ENST00000383408	T;T	0.42513	0.97;0.97	4.99	3.08	0.35506	.	1.161200	0.06104	N	0.665881	T	0.29749	0.0743	L	0.31065	0.9	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.23976	-1.0173	10	0.13853	T	0.58	.	6.9136	0.24347	0.0:0.6799:0.1472:0.173	.	1033	Q9H5I5-4	.	Q	1008;296	ENSP00000303316:E1008Q;ENSP00000372900:E296Q	ENSP00000303316:E1008Q	E	-	1	0	FAM38B	10752946	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.520000	0.22878	1.115000	0.41800	0.563000	0.77884	GAG	PIEZO2	-	NULL		0.512	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	C	NM_022068		10762946	-1	no_errors	ENST00000582913	ensembl	human	known	70_37	missense	SNP	0.026	G	G	10762946	C	G	10762946	3	3	164	1	0	0	0	0	1	0	0	0	5573	835	29	1	5368	1	FAM38B	18	10762946	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2375742	10762946	67314302	611	31399										
ZNF519	162655	genome.wustl.edu	37	chr18	14105020	14105020	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctctccagtatgaattctctGatgttgagtaaggtgtgagc	11	7	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:14105020G>A	ENST00000590202.1	-	3	1671	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	507					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGAATTCTCTGATGTTGAGTA	0.383																																																	0													78	82	80					18																	14105020		2203	4300	6503	SO:0001587	stop_gained	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1519C>T	18.37:g.14105020G>A	ENSP00000464872:p.Gln507*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q507*	ENST00000590202.1	37	c.1519	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958518	0.92726	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	.	.	.	.	.	.	.	.	.	.	.	0.51233	D	0.999915	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.8012	0.08758	0.0:1.0E-4:0.5761:0.4239	.	.	.	.	X	507	.	ENSP00000307908:Q507X	Q	-	1	0	ZNF519	14095020	0.000000	0.05858	0.739000	0.30968	0.510000	0.34073	-0.713000	0.05007	0.661000	0.30985	0.089000	0.15464	CAG	ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	G	NM_145287		14105020	-1	no_errors	ENST00000590202	ensembl	human	known	70_37	nonsense	SNP	0.888	A	A	14105020	G	A	14105020	4	1	164	1	0	0	0	0	0	1	0	0	17994	1299	45	1	107	1	ZNF519	18	14105020	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3342074	14105020	63972228	612	31400										
ZNF519	162655	genome.wustl.edu	37	chr18	14105110	14105110	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agtatggactctctgatgttGagtaaggtgtgagccccaga	13	7	1	4	rs147229950	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:14105110G>A	ENST00000590202.1	-	3	1581	c.1429C>T	c.(1429-1431)Caa>Taa	p.Q477*	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	477					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTCTGATGTTGAGTAAGGTGT	0.418																																																	0													60	62	61					18																	14105110		2203	4298	6501	SO:0001587	stop_gained	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1429C>T	18.37:g.14105110G>A	ENSP00000464872:p.Gln477*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q477*	ENST00000590202.1	37	c.1429	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438914	0.63067	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	.	.	.	.	.	.	.	.	.	.	.	0.50171	D	0.999851	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5962	0.04855	0.0:0.3141:0.3727:0.3132	.	.	.	.	X	477	.	ENSP00000307908:Q477X	Q	-	1	0	ZNF519	14095110	0.000000	0.05858	0.031000	0.17742	0.251000	0.25915	-4.328000	0.00252	-0.338000	0.08413	0.089000	0.15464	CAA	ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	G	NM_145287		14105110	-1	no_errors	ENST00000590202	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	14105110	G	A	14105110	4	1	164	1	0	0	0	0	0	1	0	0	17994	1299	45	1	197	1	ZNF519	18	14105110	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	90	14105110	63972138	613	31401										
ANKRD30B	374860	genome.wustl.edu	37	chr18	14822628	14822628	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctgtggaatgaaaatttctCttccaaataaagccttagaa	6	8	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:14822628C>T	ENST00000358984.4	+	26	2518	c.2338C>T	c.(2338-2340)Ctt>Ttt	p.L780F	RP11-1157N2__B.2_ENST00000581117.1_RNA	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	780										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAAATTTCTCTTCCAAATAA	0.254																																																	0													6	4	5					18																	14822628		666	1473	2139	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2338C>T	18.37:g.14822628C>T	ENSP00000351875:p.Leu780Phe		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L780F	ENST00000358984.4	37	c.2338	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	c	5.757	0.323991	0.10900	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.06218	3.33	0.958	-1.28	0.09318	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	P	0.47106	0.89	P	0.54965	0.765	T	0.31364	-0.9946	9	0.87932	D	0	.	2.6237	0.04923	0.2355:0.311:0.4535:0.0	.	780	F8WAG3	.	F	780;174;200	ENSP00000351875:L780F	ENSP00000277669:L200F	L	+	1	0	ANKRD30B	14812628	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.615000	0.02055	-0.493000	0.06678	-2.160000	0.00327	CTT	ANKRD30B	-	NULL		0.254	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	C	NM_001145029		14822628	1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.000	T	T	14822628	C	T	14822628	3	4	164	1	0	0	0	0	1	0	0	0	659	913	32	1	2440	1	ANKRD30B	18	14822628	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	717518	14822628	63254620	614	31402										
DSG3	1830	genome.wustl.edu	37	chr18	29049278	29049278	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggctggggcctgccgccatCggcctgctgctccttggtct	14	15	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:29049278C>A	ENST00000257189.4	+	12	1946	c.1863C>A	c.(1861-1863)atC>atA	p.I621I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	621					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGCCGCCATCGGCCTGCTGC	0.587																																																	0													41	44	43					18																	29049278		2203	4300	6503	SO:0001819	synonymous_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1863C>A	18.37:g.29049278C>A			A8K2V2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.I621	ENST00000257189.4	37	c.1863	CCDS11898.1	18																																																																																			DSG3	-	NULL		0.587	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29049278	1	no_errors	ENST00000257189	ensembl	human	known	70_37	silent	SNP	0.339	A	A	29049278	C	A	29049278	2	1	164	1	0	0	0	0	0	0	0	1	4788	874	31	3		3	DSG3	18	29049278	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	14226650	29049278	49027970	615	31403										
DSG2	1829	genome.wustl.edu	37	chr18	29126264	29126264	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagggtgtatgctccagcttCtaccttggtagatcagcctt	11	10	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:29126264C>T	ENST00000261590.8	+	15	3124	c.2915C>T	c.(2914-2916)tCt>tTt	p.S972F	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	972					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCTCCAGCTTCTACCTTGGTA	0.507																																																	0													106	107	107					18																	29126264		1984	4168	6152	SO:0001583	missense	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2915C>T	18.37:g.29126264C>T	ENSP00000261590:p.Ser972Phe		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.S972F	ENST00000261590.8	37	c.2915	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572942	0.45798	.	.	ENSG00000046604	ENST00000261590	T	0.81415	-1.49	5.16	5.16	0.70880	.	0.339286	0.25723	N	0.028736	D	0.87811	0.6271	M	0.68952	2.095	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	D	0.88428	0.3033	10	0.72032	D	0.01	.	19.2125	0.93763	0.0:1.0:0.0:0.0	.	972	Q14126	DSG2_HUMAN	F	972	ENSP00000261590:S972F	ENSP00000261590:S972F	S	+	2	0	DSG2	27380262	0.193000	0.23313	0.008000	0.14137	0.048000	0.14542	5.126000	0.64721	2.840000	0.97914	0.655000	0.94253	TCT	DSG2	-	NULL		0.507	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1	C	NM_001943		29126264	1	no_errors	ENST00000261590	ensembl	human	known	70_37	missense	SNP	0.059	T	T	29126264	C	T	29126264	3	4	164	1	0	0	0	0	1	0	0	0	4787	913	32	1	2973	1	DSG2	18	29126264	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	76986	29126264	48950984	616	31404										
NETO1	81832	genome.wustl.edu	37	chr18	70526220	70526220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaagccaaaaggtccatctcGaacttcaatatgatcaaatt	5	9	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:70526220G>A	ENST00000327305.6	-	4	967	c.310C>T	c.(310-312)Cga>Tga	p.R104*	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Nonsense_Mutation_p.R104*|NETO1_ENST00000397929.1_Nonsense_Mutation_p.R103*|NETO1_ENST00000299430.2_Nonsense_Mutation_p.R103*	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	104	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGTCCATCTCGAACTTCAATA	0.378																																																	0													92	91	91					18																	70526220		2203	4300	6503	SO:0001587	stop_gained	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.310C>T	18.37:g.70526220G>A	ENSP00000313088:p.Arg104*		Q86W85|Q8ND78|Q8TDF4	Nonsense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R104*	ENST00000327305.6	37	c.310	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	G	41	8.621459	0.98888	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	.	.	.	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6127	13.6094	0.62068	0.0:0.0:0.7282:0.2718	.	.	.	.	X	104;103;103	.	ENSP00000299430:R103X	R	-	1	2	NETO1	68677200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.824000	0.55723	2.672000	0.90937	0.655000	0.94253	CGA	NETO1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.378	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	G	NM_138999		70526220	-1	no_errors	ENST00000327305	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	70526220	G	A	70526220	4	1	164	1	0	0	0	0	0	1	0	0	10363	1066	37	1	1328	1	NETO1	18	70526220	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	41399956	70526220	7551028	617	31405										
SBNO2	22904	genome.wustl.edu	37	chr19	1119067	1119067	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggggccagcgggatctcctcGatgcggaaggtgacgccgga	18	11	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:1119067G>A	ENST00000361757.3	-	14	1707	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	SBNO2_ENST00000587024.1_Silent_p.I490I|SBNO2_ENST00000438103.2_Silent_p.I433I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	490					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCTCCTCGATGCGGAAGG	0.677																																																	0													31	41	38					19																	1119067		2193	4286	6479	SO:0001819	synonymous_variant	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1470C>T	19.37:g.1119067G>A			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	NULL	p.I490	ENST00000361757.3	37	c.1470	CCDS45894.1	19																																																																																			SBNO2	-	NULL		0.677	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	G	NM_014963		1119067	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	silent	SNP	0.868	A	A	1119067	G	A	1119067	2	1	164	1	0	0	0	0	0	0	0	1	13893	1048	37	1		1	SBNO2	19	1119067	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		1119067	58009916	618	31406										
MUM1	84939	genome.wustl.edu	37	chr19	1356398	1356398	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	catgagtgtaaatgatggcgGatgccaagtatgtcctctgc	12	8	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:1356398G>C	ENST00000415183.3	+	1	36	c.10G>C	c.(10-12)Gat>Cat	p.D4H	MUM1_ENST00000344663.3_Missense_Mutation_p.D4H|MUM1_ENST00000591806.1_Missense_Mutation_p.D4H|MUM1_ENST00000311401.5_5'UTR			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	3					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGATGGCGGATGCCAAGTA	0.488																																																	0													149	118	128					19																	1356398		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.10G>C	19.37:g.1356398G>C	ENSP00000394925:p.Asp4His		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.D4H	ENST00000415183.3	37	c.10		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.50|17.50	3.404897|3.404897	0.62288|0.62288	.|.	.|.	ENSG00000160953|ENSG00000160953	ENST00000344663;ENST00000415183|ENST00000356765	T;T|.	0.35789|.	1.29;1.29|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.465604|.	0.19963|.	N|.	0.102173|.	T|T	0.66963|0.66963	0.2843|0.2843	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.98|.	T|T	0.62789|0.62789	-0.6780|-0.6780	10|6	0.87932|0.09843	D|T	0|0.71	.|.	13.1482|13.1482	0.59474|0.59474	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;3|.	B7ZLY8;Q2TAK8|.	.;MUM1_HUMAN|.	H|A	4|31	ENSP00000345789:D4H;ENSP00000394925:D4H|.	ENSP00000345789:D4H|ENSP00000349207:G31A	D|G	+|+	1|2	0|0	MUM1|MUM1	1307398|1307398	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.407000|0.407000	0.30961|0.30961	4.445000|4.445000	0.60007|0.60007	2.138000|2.138000	0.66242|0.66242	0.563000|0.563000	0.77884|0.77884	GAT|GGA	MUM1	-	NULL		0.488	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	G	NM_032853		1356398	1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1356398	G	C	1356398	3	2	164	1	0	0	0	0	1	0	0	0	10008	1174	41	1	12	1	MUM1	19	1356398	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	237331	1356398	57772585	619	31407										
MBD3	53615	genome.wustl.edu	37	chr19	1581162	1581162	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgagccatacgccggggttCttctccacggcggccgagag	14	13	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:1581162C>T	ENST00000434436.3	-	5	735	c.606G>A	c.(604-606)aaG>aaA	p.K202K	MBD3_ENST00000585967.1_5'UTR|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000590550.2_Silent_p.K146K|MBD3_ENST00000156825.1_Silent_p.K202K|MBD3_ENST00000592012.1_Silent_p.K170K|AC005943.4_ENST00000592406.1_RNA	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	202					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGGGGTTCTTCTCCACGG	0.652																																																	0													97	74	82					19																	1581162		2203	4300	6503	SO:0001819	synonymous_variant	53615			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.606G>A	19.37:g.1581162C>T			A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.K202	ENST00000434436.3	37	c.606	CCDS12072.1	19																																																																																			MBD3	-	superfamily_ARM-type_fold		0.652	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	C	NM_003926		1581162	-1	no_errors	ENST00000156825	ensembl	human	known	70_37	silent	SNP	1.000	T	T	1581162	C	T	1581162	2	4	164	1	0	0	0	0	0	0	0	1	9367	912	32	1		1	MBD3	19	1581162	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	224764	1581162	57547821	620	31408										
AP3D1	8943	genome.wustl.edu	37	chr19	2102253	2102253	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgcacttcccgtcgactgaGacagagttctcaccctgtgt	9	14	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:2102253G>C	ENST00000345016.5	-	30	3612	c.3381C>G	c.(3379-3381)gtC>gtG	p.V1127V	AP3D1_ENST00000356926.4_Silent_p.V1086V|AP3D1_ENST00000350812.6_Silent_p.V958V|AP3D1_ENST00000355272.6_Silent_p.V1189V	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1127					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.V1127V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCGACTGAGACAGAGTTCT	0.527																																																	1	Substitution - coding silent(1)	lung(1)											107	110	109					19																	2102253		1983	4159	6142	SO:0001819	synonymous_variant	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3381C>G	19.37:g.2102253G>C			O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.V1189	ENST00000345016.5	37	c.3567	CCDS42459.1	19																																																																																			AP3D1	-	pfam_BLV_receptor		0.527	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	G			2102253	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	silent	SNP	0.888	C	C	2102253	G	C	2102253	2	2	164	1	0	0	0	0	0	0	0	1	746	929	33	1		1	AP3D1	19	2102253	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	521091	2102253	57026730	621	31409										
PLIN4	729359	genome.wustl.edu	37	chr19	4513036	4513036	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atggttcctttggccacattCatggcaccagtcaccccact	7	15	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:4513036C>T	ENST00000301286.3	-	3	893	c.894G>A	c.(892-894)atG>atA	p.M298I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	298	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCATGGCACCAG	0.552																																																	0													9	6	7					19																	4513036		1653	3518	5171	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.894G>A	19.37:g.4513036C>T	ENSP00000301286:p.Met298Ile		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.M298I	ENST00000301286.3	37	c.894	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994538	0.19043	.	.	ENSG00000167676	ENST00000301286	T	0.04454	3.62	4.58	1.15	0.20763	.	0.461691	0.20680	N	0.087678	T	0.02807	0.0084	L	0.31294	0.92	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.46830	-0.9163	10	0.07644	T	0.81	-9.5818	4.7391	0.13003	0.0:0.6208:0.1991:0.1801	.	298	Q96Q06	PLIN4_HUMAN	I	298	ENSP00000301286:M298I	ENSP00000301286:M298I	M	-	3	0	PLIN4	4464036	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.884000	0.04166	0.889000	0.36185	0.455000	0.32223	ATG	PLIN4	-	superfamily_Ankyrin_rpt-contain_dom		0.552	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4513036	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.000	T	T	4513036	C	T	4513036	3	4	164	1	0	0	0	0	1	0	0	0	12116	826	29	1	3195	1	PLIN4	19	4513036	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2410783	4513036	54615947	622	31410										
SEMA6B	10501	genome.wustl.edu	37	chr19	4550843	4550843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	acctgatcctccggcaccggCgtccagatggactcggggga	14	14	0	2	rs370892574		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:4550843C>T	ENST00000586582.1	-	11	1399	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	SEMA6B_ENST00000301293.3_Silent_p.T363T|SEMA6B_ENST00000586965.1_Silent_p.T363T	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	363	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCACCGGCGTCCAGATGG	0.657																																																	0								C		1,4405		0,1,2202	46	49	48		1089	-7.2	0.5	19		48	0,8600		0,0,4300	no	coding-synonymous	SEMA6B	NM_032108.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		363/889	4550843	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10501			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1089G>A	19.37:g.4550843C>T			A5PKU4|F6IB19|Q9NRK9	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.T363	ENST00000586582.1	37	c.1089	CCDS12131.1	19																																																																																			SEMA6B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.657	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2	C	NM_032108		4550843	-1	no_errors	ENST00000301293	ensembl	human	known	70_37	silent	SNP	0.161	T	T	4550843	C	T	4550843	2	4	164	1	0	0	0	0	0	0	0	1	14070	755	27	2		2	SEMA6B	19	4550843	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	37807	4550843	54578140	623	31411										
PTPRS	5802	genome.wustl.edu	37	chr19	5243946	5243946	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgacctggatggggtccgaGaggggcccgtcgccgacgga	18	11	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:5243946G>C	ENST00000587303.1	-	10	1635	c.1536C>G	c.(1534-1536)ctC>ctG	p.L512L	PTPRS_ENST00000262963.6_Silent_p.L508L|PTPRS_ENST00000372412.4_Silent_p.L513L|PTPRS_ENST00000588012.1_Silent_p.L499L|PTPRS_ENST00000592099.1_Silent_p.L499L|PTPRS_ENST00000348075.2_Silent_p.L499L|PTPRS_ENST00000353284.2_Silent_p.L499L|PTPRS_ENST00000357368.4_Silent_p.L512L|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	512	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGGGGTCCGAGAGGGGCCCGT	0.697																																																	0													27	24	25					19																	5243946		2203	4298	6501	SO:0001819	synonymous_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1536C>G	19.37:g.5243946G>C			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.L513	ENST00000587303.1	37	c.1539	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.697	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	G			5243946	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	silent	SNP	0.996	C	C	5243946	G	C	5243946	2	2	164	1	0	0	0	0	0	0	0	1	12841	929	33	1		1	PTPRS	19	5243946	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	693103	5243946	53885037	624	31412										
PRR22	163154	genome.wustl.edu	37	chr19	5783184	5783184	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgctcctcgtcgagcgccttGaagttgaagaagtagtcaac	11	10	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:5783184G>A	ENST00000419421.2	-	3	1178	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	358										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CGAGCGCCTTGAAGTTGAAGA	0.632																																																	0													41	43	42					19																	5783184		2202	4297	6499	SO:0001819	synonymous_variant	163154			BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.1074C>T	19.37:g.5783184G>A			E9PB31	Silent	SNP	NULL	p.F358	ENST00000419421.2	37	c.1074	CCDS45933.1	19																																																																																			PRR22	-	NULL		0.632	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR22	HGNC	protein_coding	OTTHUMT00000368523.1	G	NM_153359		5783184	-1	no_errors	ENST00000419421	ensembl	human	known	70_37	silent	SNP	1.000	A	A	5783184	G	A	5783184	2	1	164	1	0	0	0	0	0	0	0	1	12620	1281	45	1		1	PRR22	19	5783184	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	539238	5783184	53345799	625	31413										
LRRC8E	80131	genome.wustl.edu	37	chr19	7964444	7964444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caaggagtactccttccgttCcgtgcgggaggagactggca	14	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:7964444C>T	ENST00000306708.6	+	3	1138	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	346					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCCTTCCGTTCCGTGCGGGAG	0.547																																																	0													82	67	72					19																	7964444		2203	4300	6503	SO:0001583	missense	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1037C>T	19.37:g.7964444C>T	ENSP00000306524:p.Ser346Phe		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S346F	ENST00000306708.6	37	c.1037	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	C	7.656	0.683870	0.14907	.	.	ENSG00000171017	ENST00000306708	T	0.28666	1.6	4.89	4.89	0.63831	.	0.126939	0.56097	D	0.000040	T	0.23532	0.0569	L	0.29908	0.895	0.09310	N	0.999995	B	0.10296	0.003	B	0.09377	0.004	T	0.08126	-1.0737	10	0.22109	T	0.4	.	15.601	0.76626	0.0:1.0:0.0:0.0	.	346	Q6NSJ5	LRC8E_HUMAN	F	346	ENSP00000306524:S346F	ENSP00000306524:S346F	S	+	2	0	LRRC8E	7870444	0.464000	0.25807	0.145000	0.22337	0.992000	0.81027	2.133000	0.42093	2.546000	0.85860	0.555000	0.69702	TCC	LRRC8E	-	NULL		0.547	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	C	NM_025061		7964444	1	no_errors	ENST00000306708	ensembl	human	known	70_37	missense	SNP	0.070	T	T	7964444	C	T	7964444	3	4	164	1	0	0	0	0	1	0	0	0	9048	855	30	1	1043	1	LRRC8E	19	7964444	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2181260	7964444	51164539	626	31414										
ADAMTS10	81794	genome.wustl.edu	37	chr19	8670211	8670211	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacgcgggtggggaaggcgaTctcatagctctccagactgg	15	11	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:8670211T>A	ENST00000597188.1	-	4	391	c.121A>T	c.(121-123)Atc>Ttc	p.I41F	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.I41F	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	41						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGAAGGCGATCTCATAGCTC	0.667																																																	0													24	19	21					19																	8670211		2200	4300	6500	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.121A>T	19.37:g.8670211T>A	ENSP00000471851:p.Ile41Phe		M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.I41F	ENST00000597188.1	37	c.121	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352744	0.82132	.	.	ENSG00000142303	ENST00000270328	T	0.07444	3.19	5.38	5.38	0.77491	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	L	0.41356	1.27	0.80722	D	1	D	0.55605	0.972	P	0.59288	0.855	T	0.02477	-1.1153	10	0.30078	T	0.28	.	14.5708	0.68210	0.0:0.0:0.0:1.0	.	41	Q9H324	ATS10_HUMAN	F	41	ENSP00000270328:I41F	ENSP00000270328:I41F	I	-	1	0	ADAMTS10	8576211	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.622000	0.61240	2.038000	0.60285	0.402000	0.26972	ATC	ADAMTS10	-	pfam_Peptidase_M12B_N		0.667	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	T	NM_030957		8670211	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8670211	T	A	8670211	3	1	164	1	0	0	0	0	1	0	0	0	256	1435	50	5	3282	5	ADAMTS10	19	8670211	Missense_Mutation	SNP	T	TCGA-JX-A3Q0-01A-11D-A21Q-09	705767	8670211	50458772	627	31415										
ICAM1	3383	genome.wustl.edu	37	chr19	10394332	10394332	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtgggggagcccgctgaggtCacgaccacggtgctggtgag	19	10	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:10394332C>T	ENST00000264832.3	+	3	832	c.507C>T	c.(505-507)gtC>gtT	p.V169V	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	169	Ig-like C2-type 2.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCGCTGAGGTCACGACCACGG	0.647																																																	0													31	32	32					19																	10394332		2203	4299	6502	SO:0001819	synonymous_variant	3383				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.507C>T	19.37:g.10394332C>T			B2R6M3|Q5NKV7|Q96B50	Silent	SNP	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM	p.V169	ENST00000264832.3	37	c.507	CCDS12231.1	19																																																																																			ICAM1	-	NULL		0.647	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM1	HGNC	protein_coding	OTTHUMT00000451207.1	C			10394332	1	no_errors	ENST00000264832	ensembl	human	known	70_37	silent	SNP	0.053	T	T	10394332	C	T	10394332	2	4	164	1	0	0	0	0	0	0	0	1	7499	813	29	1		1	ICAM1	19	10394332	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1724121	10394332	48734651	628	31416										
DOCK6	57572	genome.wustl.edu	37	chr19	11332632	11332632	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcctcggcgtagcgggggtCagtgtcatggccacatagca	16	11	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:11332632C>T	ENST00000294618.7	-	28	3456	c.3445G>A	c.(3445-3447)Gac>Aac	p.D1149N	DOCK6_ENST00000319867.7_Missense_Mutation_p.D488N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1149					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TAGCGGGGGTCAGTGTCATGG	0.587																																																	0													69	76	73					19																	11332632		2112	4229	6341	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3445G>A	19.37:g.11332632C>T	ENSP00000294618:p.Asp1149Asn		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.D1149N	ENST00000294618.7	37	c.3445	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818271	0.71028	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.56103	1.28;0.48	4.65	4.65	0.58169	.	0.056236	0.64402	D	0.000002	T	0.75250	0.3824	M	0.86268	2.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	T	0.80471	-0.1368	10	0.87932	D	0	-37.1816	16.4402	0.83898	0.0:1.0:0.0:0.0	.	488;1149	C9IZV6;Q96HP0	.;DOCK6_HUMAN	N	1149;488	ENSP00000294618:D1149N;ENSP00000321556:D488N	ENSP00000294618:D1149N	D	-	1	0	DOCK6	11193632	1.000000	0.71417	0.921000	0.36526	0.050000	0.14768	7.460000	0.80816	2.414000	0.81942	0.491000	0.48974	GAC	DOCK6	-	NULL		0.587	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	C	NM_020812		11332632	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11332632	C	T	11332632	3	4	164	1	0	0	0	0	1	0	0	0	4701	826	29	1	2782	1	DOCK6	19	11332632	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	938300	11332632	47796351	629	31417										
CD97	976	genome.wustl.edu	37	chr19	14513660	14513660	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccgatggggaggcgggaagaGaccctcctgccaaggtctct	15	12	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:14513660G>A	ENST00000242786.5	+	12	1515	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	CD97_ENST00000357355.3_Missense_Mutation_p.D430N|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.D386N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	479					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCGGGAAGAGACCCTCCTGC	0.567																																																	0													114	101	105					19																	14513660		2203	4300	6503	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1435G>A	19.37:g.14513660G>A	ENSP00000242786:p.Asp479Asn		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.D479N	ENST00000242786.5	37	c.1435	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	G	4.784	0.145792	0.09134	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.71461	-0.57;-0.48;-0.1	3.64	-2.51	0.06365	.	.	.	.	.	T	0.41743	0.1172	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.18777	-1.0326	9	0.22109	T	0.4	.	4.0215	0.09668	0.4631:0.1859:0.351:0.0	.	386;430;479	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	N	479;430;386;429	ENSP00000242786:D479N;ENSP00000349918:D430N;ENSP00000351413:D386N	ENSP00000242786:D479N	D	+	1	0	CD97	14374660	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	1.503000	0.35715	-0.235000	0.09767	-0.719000	0.03609	GAC	CD97	-	NULL		0.567	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	G	NM_078481		14513660	1	no_errors	ENST00000242786	ensembl	human	known	70_37	missense	SNP	0.000	A	A	14513660	G	A	14513660	3	1	164	1	0	0	0	0	1	0	0	0	3054	942	33	1	1481	1	CD97	19	14513660	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3181028	14513660	44615323	630	31418										
SLC1A6	6511	genome.wustl.edu	37	chr19	15079227	15079227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gatggtgaccatgaggatgcCgatgaagaccgcgatgatgg	16	7	0	5	rs568446140		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:15079227C>T	ENST00000221742.3	-	3	443	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	SLC1A6_ENST00000600144.1_Missense_Mutation_p.G146S|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000598504.1_Missense_Mutation_p.G146S|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G146S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	146					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						ATGAGGATGCCGATGAAGACC	0.612																																																	0													111	76	88					19																	15079227		2203	4300	6503	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.436G>A	19.37:g.15079227C>T	ENSP00000221742:p.Gly146Ser		Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.G146S	ENST00000221742.3	37	c.436	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	c	26.2	4.715814	0.89112	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.66460	-0.21;-0.21	4.3	4.3	0.51218	.	0.053374	0.85682	D	0.000000	D	0.83622	0.5294	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.964	D	0.87162	0.2215	10	0.87932	D	0	-20.0664	14.2928	0.66292	0.0:1.0:0.0:0.0	.	146;147;146	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	S	146;146;147	ENSP00000221742:G146S;ENSP00000446175:G146S	ENSP00000221742:G146S	G	-	1	0	SLC1A6	14940227	1.000000	0.71417	0.967000	0.41034	0.760000	0.43138	7.464000	0.80887	2.223000	0.72356	0.457000	0.33378	GGC	SLC1A6	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	C	NM_005071		15079227	-1	no_errors	ENST00000221742	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15079227	C	T	15079227	3	4	164	1	0	0	0	0	1	0	0	0	14466	652	23	2	1286	2	SLC1A6	19	15079227	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	565567	15079227	44049756	631	31419										
CYP4F3	4051	genome.wustl.edu	37	chr19	15770127	15770127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgcctgaccacaccgagcccCgcaggaagccggagctggtc	13	16	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:15770127C>T	ENST00000221307.8	+	13	1542	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R499C|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R499C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R499C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	499					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CACCGAGCCCCGCAGGAAGCC	0.662																																																	0													16	17	17					19																	15770127		2196	4286	6482	SO:0001583	missense	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1495C>T	19.37:g.15770127C>T	ENSP00000221307:p.Arg499Cys		B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R499C	ENST00000221307.8	37	c.1495	CCDS12332.1	19	.	.	.	.	.	.	.	.	.	.	.	8.441	0.850759	0.17034	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.68903	-0.36	3.48	-0.236	0.13067	.	0.190523	0.33092	U	0.005298	T	0.67059	0.2853	M	0.88241	2.94	0.51233	D	0.999919	B;B;B	0.30211	0.157;0.174;0.273	B;B;B	0.34931	0.192;0.12;0.12	T	0.61544	-0.7041	10	0.66056	D	0.02	.	5.1278	0.14894	0.3567:0.5361:0.0:0.1072	.	209;499;499	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	C	426;499	ENSP00000221307:R499C	ENSP00000221307:R499C	R	+	1	0	CYP4F3	15631127	0.017000	0.18338	0.003000	0.11579	0.368000	0.29767	0.002000	0.13061	-0.146000	0.11274	0.305000	0.20034	CGC	CYP4F3	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.662	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP4F3	HGNC	protein_coding	OTTHUMT00000460819.3	C	NM_000896		15770127	1	no_errors	ENST00000221307	ensembl	human	known	70_37	missense	SNP	0.422	T	T	15770127	C	T	15770127	3	4	164	1	0	0	0	0	1	0	0	0	4195	652	23	2	1541	2	CYP4F3	19	15770127	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	690900	15770127	43358856	632	31420										
PLVAP	83483	genome.wustl.edu	37	chr19	17471630	17471630	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgggccttgacactggcatCatcggctgcgactgtgaaag	13	10	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:17471630C>T	ENST00000252590.4	-	4	1252	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	397					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACACTGGCATCATCGGCTGCG	0.547																																																	0													47	50	49					19																	17471630		2203	4300	6503	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1191G>A	19.37:g.17471630C>T	ENSP00000252590:p.Met397Ile		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	pfam_PV-1	p.M397I	ENST00000252590.4	37	c.1191	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.832430	0.00579	.	.	ENSG00000130300	ENST00000252590	.	.	.	2.38	-4.77	0.03219	.	3.353040	0.01727	N	0.028657	T	0.16257	0.0391	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	9	0.16896	T	0.51	.	0.5826	0.00714	0.2433:0.2911:0.2508:0.2147	.	397	Q9BX97	PLVAP_HUMAN	I	397	.	ENSP00000252590:M397I	M	-	3	0	PLVAP	17332630	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.942000	0.00329	-2.673000	0.00413	-3.532000	0.00032	ATG	PLVAP	-	pfam_PV-1		0.547	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	C	NM_031310		17471630	-1	no_errors	ENST00000252590	ensembl	human	known	70_37	missense	SNP	0.000	T	T	17471630	C	T	17471630	3	4	164	1	0	0	0	0	1	0	0	0	12140	826	29	1	149	1	PLVAP	19	17471630	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1701503	17471630	41657353	633	31421										
UNC13A	23025	genome.wustl.edu	37	chr19	17716962	17716962	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcgttgctgcgctgcgagagGattcgcagcaccgtgaggcc	15	12	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:17716962G>C	ENST00000519716.2	-	44	5012	c.5013C>G	c.(5011-5013)atC>atG	p.I1671M	UNC13A_ENST00000551649.1_Missense_Mutation_p.I1690M|UNC13A_ENST00000550896.1_Missense_Mutation_p.I1644M|UNC13A_ENST00000252773.7_Missense_Mutation_p.I1671M|UNC13A_ENST00000552293.1_Missense_Mutation_p.I1665M|UNC13A_ENST00000428389.2_Missense_Mutation_p.I1759M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1671					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTGCGAGAGGATTCGCAGCA	0.711																																																	0													9	9	9					19																	17716962		1920	4100	6020	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.5013C>G	19.37:g.17716962G>C	ENSP00000429562:p.Ile1671Met		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I1759M	ENST00000519716.2	37	c.5277	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219461	0.58560	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84730	-1.86;-1.89;-1.86;-1.78;-1.74;-1.84	2.98	2.98	0.34508	.	0.000000	0.85682	U	0.000000	D	0.90665	0.7072	M	0.84082	2.675	0.43745	D	0.996242	D	0.76494	0.999	D	0.74674	0.984	D	0.90409	0.4408	10	0.87932	D	0	-15.6537	7.4853	0.27429	0.0:0.0:0.7428:0.2572	.	1671	Q9UPW8	UN13A_HUMAN	M	1671;1759;1671;1690;1665;1644	ENSP00000429562:I1671M;ENSP00000400409:I1759M;ENSP00000252773:I1671M;ENSP00000447236:I1690M;ENSP00000447572:I1665M;ENSP00000446831:I1644M	ENSP00000252773:I1671M	I	-	3	3	UNC13A	17577962	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.990000	0.49401	1.701000	0.51217	0.306000	0.20318	ATC	UNC13A	-	NULL		0.711	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	G	XM_038604		17716962	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17716962	G	C	17716962	3	2	164	1	0	0	0	0	1	0	0	0	17015	1164	41	1	102	1	UNC13A	19	17716962	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	245332	17716962	41412021	634	31422										
UNC13A	23025	genome.wustl.edu	37	chr19	17751455	17751455	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggcacatatacttggaggaGaggcaggcaaagtggctgga	17	6	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:17751455G>A	ENST00000519716.2	-	22	2651	c.2652C>T	c.(2650-2652)ctC>ctT	p.L884L	UNC13A_ENST00000551649.1_Silent_p.L884L|UNC13A_ENST00000550896.1_Silent_p.L882L|UNC13A_ENST00000252773.7_Silent_p.L884L|UNC13A_ENST00000552293.1_Silent_p.L884L|UNC13A_ENST00000428389.2_Silent_p.L972L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	884					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACTTGGAGGAGAGGCAGGCAA	0.597																																																	0													49	56	54					19																	17751455		2161	4250	6411	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2652C>T	19.37:g.17751455G>A			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L972	ENST00000519716.2	37	c.2916	CCDS46013.2	19																																																																																			UNC13A	-	NULL		0.597	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	G	XM_038604		17751455	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17751455	G	A	17751455	2	1	164	1	0	0	0	0	0	0	0	1	17015	929	33	1		1	UNC13A	19	17751455	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	34493	17751455	41377528	635	31423										
JUND	3727	genome.wustl.edu	37	chr19	18391875	18391875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaatcctccagggccttgacGaagccctcggcgaactcctg	10	15	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:18391875G>T	ENST00000252818.3	-	1	557	c.420C>A	c.(418-420)ttC>ttA	p.F140L	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	140					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						GGGCCTTGACGAAGCCCTCGG	0.716																																																	0													17	18	17					19																	18391875		2199	4294	6493	SO:0001583	missense	3727				CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"basic leucine zipper proteins"	6206	protein-coding gene	gene with protein product	"transcription factor jun-D", "JunD-FL isoform", "activator protein 1"	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.420C>A	19.37:g.18391875G>T	ENSP00000252818:p.Phe140Leu		Q53EK9	Missense_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.F140L	ENST00000252818.3	37	c.420	CCDS32959.1	19	.	.	.	.	.	.	.	.	.	.	.	24.2	4.501729	0.85176	.	.	ENSG00000130522	ENST00000252818	T	0.57436	0.4	3.06	0.86	0.19042	Jun-like transcription factor (1);	0.066751	0.64402	U	0.000011	T	0.61862	0.2381	M	0.83774	2.66	0.54753	D	0.999987	D	0.63046	0.992	P	0.56751	0.805	T	0.58457	-0.7633	10	0.41790	T	0.15	.	5.3357	0.15957	0.3966:0.0:0.6034:0.0	.	140	P17535	JUND_HUMAN	L	140	ENSP00000252818:F140L	ENSP00000252818:F140L	F	-	3	2	JUND	18252875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.649000	0.37281	0.177000	0.19895	0.537000	0.68136	TTC	JUND	-	pfam_JNK		0.716	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUND	HGNC	protein_coding	OTTHUMT00000466318.2	G	NM_005354		18391875	-1	no_errors	ENST00000252818	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18391875	G	T	18391875	3	4	164	1	0	0	0	0	1	0	0	0	7991	1049	37	3	627	3	JUND	19	18391875	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	640420	18391875	40737108	636	31424										
JUND	3727	genome.wustl.edu	37	chr19	18391926	18391926	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccgccaccttggggtagagGaactgtgagctcgtcggcgt	16	11	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:18391926G>A	ENST00000252818.3	-	1	506	c.369C>T	c.(367-369)ttC>ttT	p.F123F	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	123					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						TGGGGTAGAGGAACTGTGAGC	0.667																																																	0													16	17	16					19																	18391926		2199	4288	6487	SO:0001819	synonymous_variant	3727				CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"basic leucine zipper proteins"	6206	protein-coding gene	gene with protein product	"transcription factor jun-D", "JunD-FL isoform", "activator protein 1"	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.369C>T	19.37:g.18391926G>A			Q53EK9	Silent	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.F123	ENST00000252818.3	37	c.369	CCDS32959.1	19																																																																																			JUND	-	pfam_JNK		0.667	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUND	HGNC	protein_coding	OTTHUMT00000466318.2	G	NM_005354		18391926	-1	no_errors	ENST00000252818	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18391926	G	A	18391926	2	1	164	1	0	0	0	0	0	0	0	1	7991	1165	41	1		1	JUND	19	18391926	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	51	18391926	40737057	637	31425										
SFRS14	10147	genome.wustl.edu	37	chr19	19136583	19136583	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctccccaggatggtccacgtCataatcccgactctccttct	6	17	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:19136583C>G	ENST00000601879.1	-	3	871	c.574G>C	c.(574-576)Gac>Cac	p.D192H	SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000337018.6_Missense_Mutation_p.D192H|SUGP2_ENST00000600377.1_Missense_Mutation_p.D206H|SUGP2_ENST00000452918.2_Missense_Mutation_p.D192H			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	192					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGTCCACGTCATAATCCCGA	0.532																																																	0													95	81	86					19																	19136583		2203	4300	6503	SO:0001583	missense	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.574G>C	19.37:g.19136583C>G	ENSP00000472286:p.Asp192His		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.D192H	ENST00000601879.1	37	c.574	CCDS12392.1	19	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538668	0.45176	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.22945	1.96;1.93;1.96	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000019	T	0.38241	0.1033	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.97	T	0.25882	-1.0119	10	0.87932	D	0	-23.7632	15.8346	0.78789	0.0:1.0:0.0:0.0	.	192;192	A8K5G0;Q8IX01	.;SUGP2_HUMAN	H	192	ENSP00000337926:D192H;ENSP00000332373:D192H;ENSP00000389380:D192H	ENSP00000332373:D192H	D	-	1	0	SUGP2	18997583	0.921000	0.31238	0.018000	0.16275	0.671000	0.39405	4.392000	0.59659	2.428000	0.82296	0.313000	0.20887	GAC	SUGP2	-	NULL		0.532	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1	C	NM_001017392		19136583	-1	no_errors	ENST00000337018	ensembl	human	known	70_37	missense	SNP	0.201	G	G	19136583	C	G	19136583	3	3	164	1	0	0	0	0	1	0	0	0	14200	826	29	1	2706	1	SFRS14	19	19136583	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	744657	19136583	39992400	638	31426										
ZNF93	81931	genome.wustl.edu	37	chr19	20044654	20044654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggcaaagcttttaaccaatCctcaacacttactaaacata	3	11	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:20044654C>A	ENST00000343769.5	+	4	918	c.890C>A	c.(889-891)tCc>tAc	p.S297Y	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TTTAACCAATCCTCAACACTT	0.368																																																	0													35	39	37					19																	20044654		2199	4292	6491	SO:0001583	missense	81931			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.890C>A	19.37:g.20044654C>A	ENSP00000342002:p.Ser297Tyr		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S297Y	ENST00000343769.5	37	c.890	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	c	5.496	0.276602	0.10403	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.01209	5.17	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	L	0.52011	1.625	0.09310	N	1	D	0.59357	0.985	P	0.58620	0.842	T	0.48670	-0.9015	9	0.25751	T	0.34	.	3.9855	0.09514	0.6161:0.3838:0.0:0.0	.	297	P35789	ZNF93_HUMAN	Y	297	ENSP00000342002:S297Y	ENSP00000342002:S297Y	S	+	2	0	ZNF93	19905654	0.000000	0.05858	0.181000	0.23098	0.180000	0.23129	-6.264000	0.00073	0.192000	0.20272	0.195000	0.17529	TCC	ZNF93	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	C	NM_031218		20044654	1	no_errors	ENST00000343769	ensembl	human	known	70_37	missense	SNP	0.000	A	A	20044654	C	A	20044654	3	1	164	1	0	0	0	0	1	0	0	0	18232	855	30	3	904	3	ZNF93	19	20044654	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	908071	20044654	39084329	639	31427										
ZNF486	90649	genome.wustl.edu	37	chr19	20308812	20308812	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagacaactcatactggagaGaaaccttacaaatgtaaaga	7	7	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:20308812G>A	ENST00000335117.8	+	4	1350	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATACTGGAGAGAAACCTTACA	0.373																																																	0													26	28	27					19																	20308812		2197	4291	6488	SO:0001819	synonymous_variant	90649			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1293G>A	19.37:g.20308812G>A			Q0VG00	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E431	ENST00000335117.8	37	c.1293	CCDS46029.1	19																																																																																			ZNF486	-	pfscan_Znf_C2H2		0.373	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	G	NM_052852		20308812	1	no_errors	ENST00000335117	ensembl	human	known	70_37	silent	SNP	0.997	A	A	20308812	G	A	20308812	2	1	164	1	0	0	0	0	0	0	0	1	17969	933	33	1		1	ZNF486	19	20308812	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	264158	20308812	38820171	640	31428										
ZNF85	7639	genome.wustl.edu	37	chr19	21131586	21131586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgcccaagacctttggccggAgcagaatataaaagattctt	9	9	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:21131586A>G	ENST00000328178.8	+	4	379	c.266A>G	c.(265-267)gAg>gGg	p.E89G	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Missense_Mutation_p.E56G|ZNF85_ENST00000601023.1_Missense_Mutation_p.E30G	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	89					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTTGGCCGGAGCAGAATATA	0.328																																																	0													58	58	58					19																	21131586		2203	4299	6502	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.266A>G	19.37:g.21131586A>G	ENSP00000329793:p.Glu89Gly		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E89G	ENST00000328178.8	37	c.266	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	4.010	-0.000831	0.07819	.	.	ENSG00000105750	ENST00000328178;ENST00000345030	T;T	0.07021	3.37;3.23	1.04	-2.09	0.07232	.	.	.	.	.	T	0.22399	0.0540	M	0.87971	2.92	0.09310	N	1	B;D;B	0.57899	0.033;0.981;0.239	B;D;B	0.65140	0.059;0.932;0.07	T	0.09552	-1.0669	9	0.49607	T	0.09	.	2.0498	0.03568	0.4442:0.0:0.301:0.2548	.	56;30;89	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	G	89;56	ENSP00000329793:E89G;ENSP00000342340:E56G	ENSP00000329793:E89G	E	+	2	0	ZNF85	20923426	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	0.035000	0.13797	-0.617000	0.05664	-0.640000	0.03970	GAG	ZNF85	-	NULL		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	A	NM_003429		21131586	1	no_errors	ENST00000328178	ensembl	human	known	70_37	missense	SNP	0.000	G	G	21131586	A	G	21131586	3	3	164	1	0	0	0	0	1	0	0	0	18223	304	11	5	280	5	ZNF85	19	21131586	Missense_Mutation	SNP	A	TCGA-JX-A3Q0-01A-11D-A21Q-09	822774	21131586	37997397	641	31429										
ZNF429	353088	genome.wustl.edu	37	chr19	21712561	21712561	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tatagaaatgtgatgttagaGaactacagaaacttggtctt	9	4	1	4	rs368773099		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:21712561G>A	ENST00000358491.4	+	2	313	c.105G>A	c.(103-105)gaG>gaA	p.E35E	ZNF429_ENST00000597078.1_Silent_p.E35E|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGATGTTAGAGAACTACAGAA	0.388																																																	0								G		1,4403		0,1,2201	108	120	116		105	0.9	0.7	19		116	0,8600		0,0,4300	no	coding-synonymous	ZNF429	NM_001001415.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		35/675	21712561	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.105G>A	19.37:g.21712561G>A			A6NLV7|Q9BZE6	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E35	ENST00000358491.4	37	c.105	CCDS42537.1	19																																																																																			ZNF429	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.388	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	G	NM_001001415		21712561	1	no_errors	ENST00000597078	ensembl	human	putative	70_37	silent	SNP	0.387	A	A	21712561	G	A	21712561	2	1	164	1	0	0	0	0	0	0	0	1	17932	933	33	1		1	ZNF429	19	21712561	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	580975	21712561	37416422	642	31430										
ZNF429	353088	genome.wustl.edu	37	chr19	21720389	21720389	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagagaaaccctacaaatgtGaagaatgtggcaaagctttt	10	6	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:21720389G>A	ENST00000358491.4	+	4	1742	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTACAAATGTGAAGAATGTGG	0.373																																																	0													36	41	39					19																	21720389		2124	4261	6385	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1534G>A	19.37:g.21720389G>A	ENSP00000351280:p.Glu512Lys		A6NLV7|Q9BZE6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E512K	ENST00000358491.4	37	c.1534	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	4.161	0.028260	0.08054	.	.	ENSG00000197013	ENST00000358491	T	0.06608	3.28	0.81	-0.534	0.11883	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	L	0.48642	1.525	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.29731	-1.0002	9	0.06757	T	0.87	.	0.1503	0.00092	0.2421:0.2506:0.2552:0.2521	.	512	Q86V71	ZN429_HUMAN	K	512	ENSP00000351280:E512K	ENSP00000351280:E512K	E	+	1	0	ZNF429	21512229	0.000000	0.05858	0.772000	0.31596	0.773000	0.43773	-2.944000	0.00681	0.181000	0.19994	0.184000	0.17185	GAA	ZNF429	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	G	NM_001001415		21720389	1	no_errors	ENST00000358491	ensembl	human	novel	70_37	missense	SNP	0.019	A	A	21720389	G	A	21720389	3	1	164	1	0	0	0	0	1	0	0	0	17932	1291	45	1	1548	1	ZNF429	19	21720389	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7828	21720389	37408594	643	31431										
ZNF302	55900	genome.wustl.edu	37	chr19	35175249	35175249	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagtaacaatggaaaaagttGtaaaacaaagttatgaattt	7	3	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:35175249G>C	ENST00000446502.2	+	6	647	c.439G>C	c.(439-441)Gta>Cta	p.V147L	ZNF302_ENST00000505242.1_Missense_Mutation_p.V103L|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.V103L|ZNF302_ENST00000507959.1_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.V103L			Q9NR11	ZN302_HUMAN	zinc finger protein 302	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAAAAAGTTGTAAAACAAAG	0.308																																																	0													39	42	41					19																	35175249		2092	4238	6330	SO:0001583	missense	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"Zinc fingers, C2H2-type", "-"	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.439G>C	19.37:g.35175249G>C	ENSP00000396379:p.Val147Leu		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V103L	ENST00000446502.2	37	c.307		19	.	.	.	.	.	.	.	.	.	.	G	2.201	-0.383082	0.04966	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000505163;ENST00000423823;ENST00000446502	T;T;T;T;T	0.04156	3.7;3.7;6.17;3.7;3.69	0.967	-0.252	0.12999	.	.	.	.	.	T	0.03011	0.0089	L	0.29908	0.895	0.09310	N	1	B;B	0.18610	0.003;0.029	B;B	0.17979	0.006;0.02	T	0.48822	-0.9001	9	0.13853	T	0.58	.	2.8797	0.05644	0.5102:0.0:0.4898:0.0	.	147;103	E7EVR1;Q9NR11-2	.;.	L	103;103;103;103;147	ENSP00000391067:V103L;ENSP00000421028:V103L;ENSP00000421696:V103L;ENSP00000405219:V103L;ENSP00000396379:V147L	ENSP00000405219:V103L	V	+	1	0	ZNF302	39867089	0.000000	0.05858	0.012000	0.15200	0.021000	0.10359	-0.278000	0.08490	-0.095000	0.12351	0.467000	0.42956	GTA	ZNF302	-	NULL		0.308	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	G			35175249	1	no_errors	ENST00000423823	ensembl	human	known	70_37	missense	SNP	0.007	C	C	35175249	G	C	35175249	3	2	164	1	0	0	0	0	1	0	0	0	17862	1377	48	4	321	4	ZNF302	19	35175249	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	13454860	35175249	23953734	644	31432										
ZNF567	163081	genome.wustl.edu	37	chr19	37211354	37211354	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttagcaggaagtcatatctCattcatcatcaaagaactca	5	9	6	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:37211354C>T	ENST00000536254.2	+	6	1950	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	ZNF567_ENST00000392163.2_Silent_p.L545L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Silent_p.L545L|ZNF567_ENST00000585696.1_Silent_p.L545L|ZNF567_ENST00000588311.1_Silent_p.L545L			Q8N184	ZN567_HUMAN	zinc finger protein 567	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTCATATCTCATTCATCATC	0.413																																																	0													61	64	63					19																	37211354		2203	4300	6503	SO:0001819	synonymous_variant	163081			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1728C>T	19.37:g.37211354C>T			B3KX49|Q6N044	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L576	ENST00000536254.2	37	c.1728		19																																																																																			ZNF567	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	C	NM_152603		37211354	1	no_errors	ENST00000536254	ensembl	human	known	70_37	silent	SNP	0.289	T	T	37211354	C	T	37211354	2	4	164	1	0	0	0	0	0	0	0	1	18028	813	29	1		1	ZNF567	19	37211354	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2036105	37211354	21917629	645	31433										
RASGRP4	115727	genome.wustl.edu	37	chr19	38912755	38912755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcacttggcggggccggcctCgccctcctatttttccggtg	13	15	0	0	rs376854073		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:38912755C>T	ENST00000587738.1	-	2	132	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	RASGRP4_ENST00000433821.2_Missense_Mutation_p.R21Q|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R21Q|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R21Q|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R21Q|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R21Q|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R21Q			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	21					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R21Q(1)|p.R21L(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGCCGGCCTCGCCCTCCTAT	0.617																																																	2	Substitution - Missense(2)	lung(2)						C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3903		0,1,1951	36	44	41		62,62,62,62,62,62,62	1.9	0.7	19		41	0,8268		0,0,4134	no	missense,missense,missense,missense,missense,missense,missense	RASGRP4	NM_001146202.1,NM_001146203.1,NM_001146204.1,NM_001146205.1,NM_001146206.1,NM_001146207.1,NM_170604.2	43,43,43,43,43,43,43	0,1,6085	TT,TC,CC		0.0,0.0256,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	21/660,21/582,21/605,21/640,21/485,21/577,21/674	38912755	1,12171	1952	4134	6086	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.62G>A	19.37:g.38912755C>T	ENSP00000465772:p.Arg21Gln		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.R21Q	ENST00000587738.1	37	c.62	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309642	0.23821	2.56E-4	0.0	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.06	1.85	0.25348	Ras guanine nucleotide exchange factor, domain (1);	0.770535	0.11194	N	0.589583	T	0.22704	0.0548	M	0.64997	1.995	0.09310	N	1	B;B;P;B;P;B;B	0.38195	0.024;0.013;0.622;0.07;0.552;0.139;0.07	B;B;B;B;B;B;B	0.22753	0.002;0.001;0.041;0.003;0.026;0.018;0.003	T	0.26224	-1.0109	10	0.87932	D	0	-11.0923	4.1614	0.10285	0.1864:0.6248:0.0:0.1888	.	21;21;21;21;21;21;21	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	Q	21	ENSP00000411878:R21Q;ENSP00000293062:R21Q;ENSP00000445966:R21Q;ENSP00000416463:R21Q	ENSP00000293062:R21Q	R	-	2	0	RASGRP4	43604595	0.029000	0.19370	0.748000	0.31131	0.122000	0.20287	0.293000	0.19029	0.468000	0.27243	0.455000	0.32223	CGA	RASGRP4	-	superfamily_Ras_GEF_dom		0.617	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	C	NM_170604		38912755	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	0.072	T	T	38912755	C	T	38912755	3	4	164	1	0	0	0	0	1	0	0	0	13107	884	31	1	2023	1	RASGRP4	19	38912755	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1701401	38912755	20216228	646	31434										
PAF1	55588	genome.wustl.edu	37	chr19	39879801	39879801	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atccctgtctttgtatatttCttcctcggtaaactgctgct	6	11	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:39879801C>T	ENST00000599213.2	+	0	0				PAF1_ENST00000221266.7_Missense_Mutation_p.E157K|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.E167K|PAF1_ENST00000595564.1_Missense_Mutation_p.E157K|MED29_ENST00000594368.1_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTGTATATTTCTTCCTCGGTA	0.478																																																	0													137	138	138					19																	39879801		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879801C>T	Exception_encountered		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.E167K	ENST00000599213.2	37	c.499		19	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003795	0.54254	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.32	5.32	0.75619	.	0.050958	0.85682	D	0.000000	T	0.48352	0.1495	L	0.43152	1.355	0.58432	D	0.999999	P;B	0.35033	0.481;0.166	B;B	0.34824	0.19;0.082	T	0.40251	-0.9573	9	0.08837	T	0.75	-19.0194	16.5374	0.84376	0.0:1.0:0.0:0.0	.	157;167	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	K	167;157;114	.	ENSP00000221265:E167K	E	-	1	0	PAF1	44571641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.767000	0.95098	0.563000	0.77884	GAA	PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.478	MED29-011	KNOWN	basic|appris_candidate	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000470870.1	C	XM_290829		39879801	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39879801	C	T	39879801	1	4	164	0	1	0	0	0	0	0	0	0	11407	922	32	1		1	PAF1	19	39879801	5'Flank	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	967046	39879801	19249182	647	31435										
FCGBP	8857	genome.wustl.edu	37	chr19	40421422	40421422	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctctgcttgtcgcggcaggtGacctgatgggtggcgccgtt	16	11	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:40421422G>A	ENST00000221347.6	-	5	2506	c.2499C>T	c.(2497-2499)gtC>gtT	p.V833V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	833	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCGGCAGGTGACCTGATGGG	0.692																																																	0													18	16	16					19																	40421422		2202	4293	6495	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2499C>T	19.37:g.40421422G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.V833	ENST00000221347.6	37	c.2499	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWF_C		0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40421422	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.585	A	A	40421422	G	A	40421422	2	1	164	1	0	0	0	0	0	0	0	1	5796	1277	45	1		1	FCGBP	19	40421422	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	541621	40421422	18707561	648	31436										
CYP2A7	1549	genome.wustl.edu	37	chr19	41381616	41381616	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctcagcggggcaggaagctCatggtgtagtttcgtgggat	17	7	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:41381616C>A	ENST00000301146.4	-	9	2008	c.1467G>T	c.(1465-1467)atG>atT	p.M489I	CYP2A7_ENST00000291764.3_Missense_Mutation_p.M438I|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	489						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCAGGAAGCTCATGGTGTAGT	0.632																																																	0													36	46	43					19																	41381616		2201	4297	6498	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1467G>T	19.37:g.41381616C>A	ENSP00000301146:p.Met489Ile		Q13121	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like	p.M489I	ENST00000301146.4	37	c.1467	CCDS12569.1	19	.	.	.	.	.	.	.	.	.	.	C	7.380	0.628609	0.14257	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.10192	5.25;2.9	2.22	-0.689	0.11313	.	0.459913	0.22891	N	0.054390	T	0.04227	0.0117	N	0.05441	-0.05	0.23845	N	0.996686	B;B;B	0.18610	0.029;0.016;0.015	B;B;B	0.19148	0.021;0.017;0.024	T	0.38866	-0.9641	10	0.29301	T	0.29	.	5.793	0.18371	0.186:0.2964:0.5176:0.0	.	489;438;489	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	I	489;438	ENSP00000301146:M489I;ENSP00000291764:M438I	ENSP00000291764:M438I	M	-	3	0	CYP2A7	46073456	0.001000	0.12720	0.062000	0.19696	0.093000	0.18481	-0.374000	0.07484	0.219000	0.20840	0.195000	0.17529	ATG	CYP2A7	-	superfamily_Cyt_P450		0.632	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	HGNC	protein_coding	OTTHUMT00000463269.2	C	NM_030589		41381616	-1	no_errors	ENST00000301146	ensembl	human	known	70_37	missense	SNP	0.873	A	A	41381616	C	A	41381616	3	1	164	1	0	0	0	0	1	0	0	0	4168	826	29	3	21	3	CYP2A7	19	41381616	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	960194	41381616	17747367	649	31437										
CYP2A7	1549	genome.wustl.edu	37	chr19	41386426	41386426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gatgaggaagcccgactcctCctggatgcgctcctcgatgc	12	14	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:41386426C>T	ENST00000301146.4	-	3	992	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CYP2A7_ENST00000291764.3_Missense_Mutation_p.E100K|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	151						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGACTCCTCCTGGATGCGC	0.652																																																	0													49	44	46					19																	41386426		2203	4300	6503	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.451G>A	19.37:g.41386426C>T	ENSP00000301146:p.Glu151Lys		Q13121	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like	p.E151K	ENST00000301146.4	37	c.451	CCDS12569.1	19	.	.	.	.	.	.	.	.	.	.	c	20.8	4.042491	0.75732	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.70631	-0.5;-0.5	2.22	2.22	0.28083	.	0.000000	0.85682	U	0.000000	T	0.78515	0.4295	M	0.62723	1.935	0.36079	D	0.842675	P;D;D	0.71674	0.92;0.957;0.998	P;P;D	0.66497	0.707;0.868;0.944	D	0.83552	0.0102	10	0.62326	D	0.03	.	11.4692	0.50257	0.0:1.0:0.0:0.0	.	151;100;151	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	K	151;100	ENSP00000301146:E151K;ENSP00000291764:E100K	ENSP00000291764:E100K	E	-	1	0	CYP2A7	46078266	1.000000	0.71417	0.115000	0.21578	0.019000	0.09904	3.956000	0.56722	1.220000	0.43490	0.195000	0.17529	GAG	CYP2A7	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.652	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	HGNC	protein_coding	OTTHUMT00000463269.2	C	NM_030589		41386426	-1	no_errors	ENST00000301146	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41386426	C	T	41386426	3	4	164	1	0	0	0	0	1	0	0	0	4168	864	30	1	1061	1	CYP2A7	19	41386426	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4810	41386426	17742557	650	31438										
CYP2A7	1549	genome.wustl.edu	37	chr19	41386523	41386523	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttggcgcgctccccgttgctGaacgccacgcctggggaggt	15	14	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:41386523G>A	ENST00000301146.4	-	3	895	c.354C>T	c.(352-354)ttC>ttT	p.F118F	CYP2A7_ENST00000291764.3_Silent_p.F67F|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	118						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCCGTTGCTGAACGCCACGC	0.697																																																	0													16	15	15					19																	41386523		2160	4196	6356	SO:0001819	synonymous_variant	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.354C>T	19.37:g.41386523G>A			Q13121	Missense_Mutation	SNP	superfamily_Cyt_P450	p.S64L	ENST00000301146.4	37	c.191	CCDS12569.1	19																																																																																			CYP2A7	-	NULL		0.697	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	HGNC	protein_coding	OTTHUMT00000463269.2	G	NM_030589		41386523	-1	no_errors	ENST00000594332	ensembl	human	known	70_37	missense	SNP	0.809	A	A	41386523	G	A	41386523	2	1	164	1	0	0	0	0	0	0	0	1	4168	1281	45	1		1	CYP2A7	19	41386523	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	97	41386523	17742460	651	31439										
RPS19	6223	genome.wustl.edu	37	chr19	42364896	42364896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcaggagttcgtcagagctCtggcagccttcctcaaaaag	11	11	3	1	rs138366744		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:42364896C>G	ENST00000598742.1	+	2	424	c.52C>G	c.(52-54)Ctg>Gtg	p.L18V	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Missense_Mutation_p.L18V	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	18			L -> P (in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit). {ECO:0000269|PubMed:11112378}.|L -> R (in DBA1). {ECO:0000269|PubMed:15384984}.|LA -> E (in DBA1).		cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CGTCAGAGCTCTGGCAGCCTT	0.557									Diamond-Blackfan Anemia																																								0													127	128	127					19																	42364896		2203	4300	6503	SO:0001583	missense	6223	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"S ribosomal proteins"	10402	protein-coding gene	gene with protein product	"Diamond-Blackfan anemia"	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.52C>G	19.37:g.42364896C>G	ENSP00000470972:p.Leu18Val			Missense_Mutation	SNP	pfam_Ribosomal_S19e	p.L18V	ENST00000598742.1	37	c.52	CCDS12588.1	19	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241539	0.58995	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.49795	0.1578	L	0.42581	1.335	0.58432	D	0.999999	B	0.30889	0.299	B	0.33121	0.158	T	0.42849	-0.9427	9	0.16896	T	0.51	-12.794	15.585	0.76475	0.0:1.0:0.0:0.0	.	18	P39019	RS19_HUMAN	V	18	.	ENSP00000221975:L18V	L	+	1	2	RPS19	47056736	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.187000	0.50950	2.476000	0.83614	0.655000	0.94253	CTG	RPS19	-	pfam_Ribosomal_S19e		0.557	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1	C	NM_001022		42364896	1	no_errors	ENST00000593863	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42364896	C	G	42364896	3	3	164	1	0	0	0	0	1	0	0	0	13659	912	32	1	54	1	RPS19	19	42364896	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	978373	42364896	16764087	652	31440										
PSG4	5672	genome.wustl.edu	37	chr19	43708314	43708314	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caaattgtggacaagtagaaGaacatccttcccctcagaaa	7	10	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:43708314G>A	ENST00000405312.3	-	2	391	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	PSG4_ENST00000433626.2_Missense_Mutation_p.L52F|PSG4_ENST00000244295.9_Missense_Mutation_p.L52F	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	52	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ACAAGTAGAAGAACATCCTTC	0.448																																																	0													161	174	169					19																	43708314		2144	4267	6411	SO:0001583	missense	5672				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.154C>T	19.37:g.43708314G>A	ENSP00000384770:p.Leu52Phe		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L52F	ENST00000405312.3	37	c.154	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	N	14.13	2.442359	0.43326	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	1.65	-1.09	0.09904	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78426	0.4281	M	0.83774	2.66	0.09310	N	1	D;D;B	0.89917	0.996;1.0;0.226	D;D;B	0.97110	0.993;1.0;0.363	T	0.65245	-0.6215	9	0.66056	D	0.02	.	5.797	0.18392	0.0:0.0:0.4527:0.5473	.	52;52;52	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	F	52;52;52;68	ENSP00000244295:L52F;ENSP00000384770:L52F;ENSP00000387864:L52F;ENSP00000388134:L68F	ENSP00000244295:L52F	L	-	1	0	PSG4	48400154	0.004000	0.15560	0.016000	0.15963	0.394000	0.30568	0.358000	0.20216	-0.154000	0.11118	0.173000	0.16961	CTT	PSG4	-	pfam_Ig_V-set,smart_Ig_sub		0.448	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	G	NM_213633		43708314	-1	no_errors	ENST00000405312	ensembl	human	known	70_37	missense	SNP	0.021	A	A	43708314	G	A	43708314	3	1	164	1	0	0	0	0	1	0	0	0	12684	942	33	1	1125	1	PSG4	19	43708314	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1343418	43708314	15420669	653	31441										
ZNF180	7733	genome.wustl.edu	37	chr19	44982160	44982160	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgaataactgctttcctttGagtgaatgccacttcctgca	7	10	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:44982160G>A	ENST00000221327.4	-	5	819	c.538C>T	c.(538-540)Caa>Taa	p.Q180*	ZNF180_ENST00000391956.4_Nonsense_Mutation_p.Q155*|ZNF180_ENST00000592529.1_Nonsense_Mutation_p.Q153*|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000586637.1_3'UTR	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q180K(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTTTCCTTTGAGTGAATGCC	0.408																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												1	Substitution - Missense(1)	lung(1)											164	156	159					19																	44982160		2203	4300	6503	SO:0001587	stop_gained	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.538C>T	19.37:g.44982160G>A	ENSP00000221327:p.Gln180*		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q180*	ENST00000221327.4	37	c.538	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.171767	0.94807	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	.	.	.	5.16	2.96	0.34315	.	0.609459	0.13689	N	0.369673	.	.	.	.	.	.	0.21220	N	0.99976	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-2.0041	8.5919	0.33693	0.0876:0.1577:0.7547:0.0	.	.	.	.	X	180;155	.	ENSP00000221327:Q180X	Q	-	1	0	ZNF180	49674000	0.001000	0.12720	0.020000	0.16555	0.971000	0.66376	0.855000	0.27805	2.683000	0.91414	0.655000	0.94253	CAA	ZNF180	-	NULL		0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	G	NM_013256		44982160	-1	no_errors	ENST00000221327	ensembl	human	known	70_37	nonsense	SNP	0.037	A	A	44982160	G	A	44982160	4	1	164	1	0	0	0	0	0	1	0	0	17778	1299	45	1	1544	1	ZNF180	19	44982160	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1273846	44982160	14146823	654	31442										
SFRS16	11129	genome.wustl.edu	37	chr19	45567797	45567797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccggtcccgtagccgtggcCggcggcactcaggtgggggc	18	15	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:45567797C>T	ENST00000221455.3	+	13	1416	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	CLASRP_ENST00000391953.4_Missense_Mutation_p.R378W|CLASRP_ENST00000544944.2_Missense_Mutation_p.R440W	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	440	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TAGCCGTGGCCGGCGGCACTC	0.756																																																	0													3	5	4					19																	45567797		1811	3617	5428	SO:0001583	missense	11129			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1318C>T	19.37:g.45567797C>T	ENSP00000221455:p.Arg440Trp		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	pfam_SWAP_N_domain	p.R440W	ENST00000221455.3	37	c.1318	CCDS12652.2	19	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544664	0.65198	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.40476	1.51;2.76;1.51;1.03	4.52	4.52	0.55395	.	0.000000	0.33235	U	0.005128	T	0.48642	0.1511	L	0.27053	0.805	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;0.997	D;D;P	0.67725	0.953;0.916;0.825	T	0.51957	-0.8639	10	0.87932	D	0	-13.5887	12.6473	0.56742	0.0:1.0:0.0:0.0	.	378;440;440	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	W	440;440;378;440	ENSP00000221455:R440W;ENSP00000375814:R440W;ENSP00000375815:R378W;ENSP00000438702:R440W	ENSP00000221455:R440W	R	+	1	2	CLASRP	50259637	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.318000	0.33643	2.354000	0.79902	0.655000	0.94253	CGG	CLASRP	-	NULL		0.756	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	HGNC	protein_coding	OTTHUMT00000316749.1	C	NM_007056		45567797	1	no_errors	ENST00000221455	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45567797	C	T	45567797	3	4	164	1	0	0	0	0	1	0	0	0	14202	643	23	2	1364	2	SFRS16	19	45567797	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	585637	45567797	13561186	655	31443										
KLC3	147700	genome.wustl.edu	37	chr19	45849946	45849946	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcggcttcgggccagcgagGagtccgtggcccagctggag	19	12	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:45849946G>C	ENST00000391946.2	+	3	505	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	KLC3_ENST00000585434.1_Missense_Mutation_p.E135Q|KLC3_ENST00000470402.1_Missense_Mutation_p.E149Q	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	135					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCAGCGAGGAGTCCGTGGC	0.721																																																	0													5	7	6					19																	45849946		2041	4140	6181	SO:0001583	missense	147700			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.403G>C	19.37:g.45849946G>C	ENSP00000375810:p.Glu135Gln		A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E149Q	ENST00000391946.2	37	c.445	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	G	4.901	0.167423	0.09339	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.39406	1.08;1.08	4.26	4.26	0.50523	Rabaptin, GTPase-Rab5 binding (1);	0.081164	0.50627	D	0.000109	T	0.12774	0.0310	N	0.01086	-1.025	0.42012	D	0.990941	B;B;B	0.13594	0.002;0.006;0.008	B;B;B	0.13407	0.005;0.005;0.009	T	0.26573	-1.0099	10	0.02654	T	1	-30.6325	10.4151	0.44316	0.0:0.1991:0.8009:0.0	.	135;149;135	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	Q	135;149	ENSP00000375810:E135Q;ENSP00000436019:E149Q	ENSP00000375810:E135Q	E	+	1	0	KLC3	50541786	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	3.551000	0.53698	2.390000	0.81377	0.455000	0.32223	GAG	KLC3	-	pfam_Rabaptin_Rab5-bd_dom		0.721	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	G	NM_145275		45849946	1	no_errors	ENST00000470402	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45849946	G	C	45849946	3	2	164	1	0	0	0	0	1	0	0	0	8355	1175	41	1	409	1	KLC3	19	45849946	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	282149	45849946	13279037	656	31444										
PRKD2	25865	genome.wustl.edu	37	chr19	47200444	47200444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgttggtcgtgttgttctgGaagagcgtgatacacttgca	13	7	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:47200444G>T	ENST00000291281.4	-	9	1512	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	PRKD2_ENST00000600194.1_Missense_Mutation_p.F272L|PRKD2_ENST00000595515.1_Missense_Mutation_p.F429L|PRKD2_ENST00000601806.1_Missense_Mutation_p.F272L|PRKD2_ENST00000433867.1_Missense_Mutation_p.F429L			Q9BZL6	KPCD2_HUMAN	protein kinase D2	429	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGTTGTTCTGGAAGAGCGTGA	0.542																																																	0													155	127	137					19																	47200444		2203	4300	6503	SO:0001583	missense	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1287C>A	19.37:g.47200444G>T	ENSP00000291281:p.Phe429Leu		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F429L	ENST00000291281.4	37	c.1287	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	g	22.6	4.315987	0.81469	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.29917	1.55;1.55	4.64	3.6	0.41247	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.89904	3.07	0.53688	D	0.999975	B;B	0.20780	0.028;0.048	B;B	0.42995	0.312;0.404	T	0.55761	-0.8090	10	0.72032	D	0.01	-35.2405	8.4788	0.33030	0.1839:0.0:0.8161:0.0	.	429;429	E7ER94;Q9BZL6	.;KPCD2_HUMAN	L	429	ENSP00000291281:F429L;ENSP00000393978:F429L	ENSP00000291281:F429L	F	-	3	2	PRKD2	51892284	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.220000	0.65267	1.087000	0.41251	0.651000	0.88453	TTC	PRKD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	G	NM_016457		47200444	-1	no_errors	ENST00000291281	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47200444	G	T	47200444	3	4	164	1	0	0	0	0	1	0	0	0	12546	1165	41	3	1389	3	PRKD2	19	47200444	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1350498	47200444	11928539	657	31445										
CRX	1406	genome.wustl.edu	37	chr19	48343195	48343195	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	accctctggactacaaggatCagagtgcctggaagtttcag	11	10	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:48343195C>G	ENST00000221996.7	+	4	1077	c.871C>G	c.(871-873)Cag>Gag	p.Q291E	CRX_ENST00000539067.1_Missense_Mutation_p.Q291E|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	291					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTACAAGGATCAGAGTGCCTG	0.542																																					Pancreas(57;461 1196 22201 40716 47188)												0													78	80	80					19																	48343195		2181	4226	6407	SO:0001583	missense	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.871C>G	19.37:g.48343195C>G	ENSP00000221996:p.Gln291Glu		Q0QD45	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.Q291E	ENST00000221996.7	37	c.871	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115891	0.56505	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.94793	-3.52;-3.52	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.95831	0.8643	M	0.64404	1.975	0.50632	D	0.999883	P	0.52842	0.956	P	0.62184	0.899	D	0.96070	0.9045	10	0.72032	D	0.01	-7.9092	13.3627	0.60665	0.0:1.0:0.0:0.0	.	291	O43186	CRX_HUMAN	E	291	ENSP00000221996:Q291E;ENSP00000445565:Q291E	ENSP00000221996:Q291E	Q	+	1	0	CRX	53035007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.060000	0.76692	1.988000	0.58038	0.313000	0.20887	CAG	CRX	-	NULL		0.542	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	C	NM_000554		48343195	1	no_errors	ENST00000221996	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48343195	C	G	48343195	3	3	164	1	0	0	0	0	1	0	0	0	3907	827	29	1	881	1	CRX	19	48343195	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1142751	48343195	10785788	658	31446										
PPFIA3	8541	genome.wustl.edu	37	chr19	49632266	49632266	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caccacaaggccctggatgaGaaggtatgagaattagaaga	12	7	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:49632266G>C	ENST00000334186.4	+	4	853	c.504G>C	c.(502-504)gaG>gaC	p.E168D	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E168D	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	168					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCCTGGATGAGAAGGTATGAG	0.547																																																	0													38	41	40					19																	49632266		2203	4300	6503	SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.504G>C	19.37:g.49632266G>C	ENSP00000335614:p.Glu168Asp		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E168D	ENST00000334186.4	37	c.504	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614387	0.87359	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.53640	0.61	4.87	2.76	0.32466	.	0.000000	0.47852	D	0.000207	T	0.66157	0.2761	M	0.83603	2.65	0.48975	D	0.999732	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.995;0.999;0.998	T	0.68945	-0.5275	10	0.87932	D	0	-22.2021	8.0145	0.30372	0.2583:0.0:0.7417:0.0	.	92;168;168	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	D	168;92	ENSP00000335614:E168D	ENSP00000335614:E168D	E	+	3	2	PPFIA3	54324078	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.426000	0.34870	1.432000	0.47375	0.655000	0.94253	GAG	PPFIA3	-	NULL		0.547	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	G	NM_003660		49632266	1	no_errors	ENST00000334186	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49632266	G	C	49632266	3	2	164	1	0	0	0	0	1	0	0	0	12335	933	33	1	514	1	PPFIA3	19	49632266	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1289071	49632266	9496717	659	31447										
IL4I1	259307	genome.wustl.edu	37	chr19	50399241	50399241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctcgaaggggtcttggctgCgttcagccttccagtcctgg	13	12	3	0	rs141664132	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:50399241C>T	ENST00000391826.2	-	3	225	c.83G>A	c.(82-84)cGc>cAc	p.R28H	IL4I1_ENST00000595948.1_Missense_Mutation_p.R50H|IL4I1_ENST00000341114.3_Missense_Mutation_p.R50H	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	28						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GTCTTGGCTGCGTTCAGCCTT	0.627																																																	0								C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	75	66	69		83,149	-10.6	0	19	dbSNP_134	69	1,8599		0,1,4299	yes	missense,missense	IL4I1	NM_152899.1,NM_172374.1	29,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign	28/568,50/590	50399241	3,13003	2203	4300	6503	SO:0001583	missense	259307			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.83G>A	19.37:g.50399241C>T	ENSP00000375702:p.Arg28His		Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.R50H	ENST00000391826.2	37	c.149	CCDS12787.1	19	.	.	.	.	.	.	.	.	.	.	C	1.815	-0.473645	0.04414	4.54E-4	1.16E-4	ENSG00000104951	ENST00000341114;ENST00000391826	T;T	0.31510	1.49;1.5	5.28	-10.6	0.00265	.	2.118710	0.01696	N	0.026917	T	0.06735	0.0172	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21930	-1.0231	10	0.12430	T	0.62	-9.5091	1.9497	0.03364	0.1934:0.2986:0.3717:0.1364	.	50;50;28	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	H	50;28	ENSP00000342557:R50H;ENSP00000375702:R28H	ENSP00000342557:R50H	R	-	2	0	IL4I1	55091053	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.012000	0.03649	-2.253000	0.00698	-1.170000	0.01741	CGC	IL4I1	-	NULL		0.627	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4I1	HGNC	protein_coding	OTTHUMT00000466413.1	C			50399241	-1	no_errors	ENST00000341114	ensembl	human	known	70_37	missense	SNP	0.000	T	T	50399241	C	T	50399241	3	4	164	1	0	0	0	0	1	0	0	0	7717	768	27	2	1644	2	IL4I1	19	50399241	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	766975	50399241	8729742	660	31448										
VRK3	51231	genome.wustl.edu	37	chr19	50512551	50512551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcagaactgtcaccatctgaGaagagggataatcggggaga	13	7	3	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:50512551G>A	ENST00000599538.1	-	4	895	c.231C>T	c.(229-231)ttC>ttT	p.F77F	VRK3_ENST00000594092.1_Silent_p.F77F|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000593919.1_Silent_p.F77F|VRK3_ENST00000316763.3_Silent_p.F77F|VRK3_ENST00000377011.2_Intron|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Silent_p.F77F			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	77					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CACCATCTGAGAAGAGGGATA	0.463																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)												0													210	202	204					19																	50512551		2203	4300	6503	SO:0001819	synonymous_variant	51231			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.231C>T	19.37:g.50512551G>A			A6NEG5|A8KA53|Q502Y2|Q9P2V8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.F77	ENST00000599538.1	37	c.231	CCDS12791.1	19																																																																																			VRK3	-	NULL		0.463	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	HGNC	protein_coding	OTTHUMT00000464815.1	G	NM_016440		50512551	-1	no_errors	ENST00000316763	ensembl	human	known	70_37	silent	SNP	0.001	A	A	50512551	G	A	50512551	2	1	164	1	0	0	0	0	0	0	0	1	17252	933	33	1		1	VRK3	19	50512551	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	113310	50512551	8616432	661	31449										
MYBPC2	4606	genome.wustl.edu	37	chr19	50939936	50939936	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gaccgtgggtattaccgcctCgaggtcaaagccaaggacac	12	12	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:50939936C>T	ENST00000357701.5	+	5	459	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	136	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATTACCGCCTCGAGGTCAAAG	0.612																																																	0													108	107	107					19																	50939936		2052	4175	6227	SO:0001819	synonymous_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.408C>T	19.37:g.50939936C>T			A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L136	ENST00000357701.5	37	c.408	CCDS46152.1	19																																																																																			MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50939936	1	no_errors	ENST00000357701	ensembl	human	known	70_37	silent	SNP	0.624	T	T	50939936	C	T	50939936	2	4	164	1	0	0	0	0	0	0	0	1	10035	871	31	1		1	MYBPC2	19	50939936	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	427385	50939936	8189047	662	31450										
LRRC4B	94030	genome.wustl.edu	37	chr19	51021572	51021572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccccagggccgcccccgccGctgccggtgcccccggccgc	13	25	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:51021572G>A	ENST00000599957.1	-	3	1595	c.1398C>T	c.(1396-1398)agC>agT	p.S466S	LRRC4B_ENST00000389201.3_Silent_p.S466S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	466	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		cgcccccgccgctgccggtgc	0.716																																																	0													12	16	15					19																	51021572		1829	3984	5813	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1398C>T	19.37:g.51021572G>A			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S466	ENST00000599957.1	37	c.1398	CCDS42595.1	19																																																																																			LRRC4B	-	NULL		0.716	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	G	NM_001080457		51021572	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	0.016	A	A	51021572	G	A	51021572	2	1	164	1	0	0	0	0	0	0	0	1	9030	1078	38	2		2	LRRC4B	19	51021572	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	81636	51021572	8107411	663	31451										
ZNF615	284370	genome.wustl.edu	37	chr19	52496447	52496447	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctgaaggttttatcacattCattgcatttgtatggcttct	7	8	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:52496447C>T	ENST00000602063.1	-	6	2231	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	ZNF615_ENST00000594083.1_Missense_Mutation_p.E639K|ZNF615_ENST00000391795.3_Missense_Mutation_p.E633K|ZNF615_ENST00000376716.5_Missense_Mutation_p.E628K|ZNF615_ENST00000598071.1_Missense_Mutation_p.E639K			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTATCACATTCATTGCATTTG	0.393																																																	0													136	133	134					19																	52496447		2203	4300	6503	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1882G>A	19.37:g.52496447C>T	ENSP00000473089:p.Glu628Lys		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E639K	ENST00000602063.1	37	c.1915	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117977	0.20877	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.16597	2.33;2.33	3.32	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	L	0.28400	0.85	0.09310	N	1	B;B;B;B	0.27823	0.19;0.158;0.158;0.19	B;B;B;B	0.24974	0.057;0.055;0.055;0.057	T	0.18304	-1.0341	9	0.49607	T	0.09	.	11.8743	0.52537	0.0:0.8213:0.1787:0.0	.	633;635;639;628	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	K	628;638;633;582	ENSP00000365906:E628K;ENSP00000375672:E633K	ENSP00000347019:E638K	E	-	1	0	ZNF615	57188259	0.000000	0.05858	0.053000	0.19242	0.592000	0.36648	0.023000	0.13533	1.848000	0.53677	0.655000	0.94253	GAA	ZNF615	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	C	NM_198480		52496447	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	missense	SNP	0.063	T	T	52496447	C	T	52496447	3	4	164	1	0	0	0	0	1	0	0	0	18070	835	29	1	317	1	ZNF615	19	52496447	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1474875	52496447	6632536	664	31452										
ZNF841	284371	genome.wustl.edu	37	chr19	52579301	52579301	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccatctgagctcttaccggtGatcacgcctttcatgcattc	7	14	4	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:52579301G>A	ENST00000426391.2	-	5	475				ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.I89I|ZNF841_ENST00000389534.4_Silent_p.I89I			Q6ZN19	ZN841_HUMAN	zinc finger protein 841						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTTACCGGTGATCACGCCTT	0.488																																																	0													115	104	107					19																	52579301		692	1591	2283	SO:0001627	intron_variant	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.77-8438C>T	19.37:g.52579301G>A			B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I89	ENST00000426391.2	37	c.267		19																																																																																			ZNF841	-	NULL		0.488	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	G	XM_209155		52579301	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	silent	SNP	0.000	A	A	52579301	G	A	52579301	1	1	164	0	1	0	0	0	0	0	0	0	18219	1280	45	1		1	ZNF841	19	52579301	Intron	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	82854	52579301	6549682	665	31453										
ZNF845	91664	genome.wustl.edu	37	chr19	53855572	53855572	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtagacttcatactggagaGaaaccttaccagtgtaatga	9	7	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:53855572G>A	ENST00000595091.1	+	5	1863	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	ZNF845_ENST00000458035.1_Silent_p.E548E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATACTGGAGAGAAACCTTACC	0.408																																																	0													58	53	55					19																	53855572		692	1591	2283	SO:0001819	synonymous_variant	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1644G>A	19.37:g.53855572G>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E548	ENST00000595091.1	37	c.1644	CCDS46170.1	19																																																																																			ZNF845	-	pfscan_Znf_C2H2		0.408	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	G	XM_039908		53855572	1	no_errors	ENST00000458035	ensembl	human	known	70_37	silent	SNP	0.998	A	A	53855572	G	A	53855572	2	1	164	1	0	0	0	0	0	0	0	1	18221	933	33	1		1	ZNF845	19	53855572	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1276271	53855572	5273411	666	31454										
PRPF31	26121	genome.wustl.edu	37	chr19	54627905	54627905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cggcggcctgaccaacctctCcaagatgcccgcctgcaaca	9	18	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:54627905C>T	ENST00000321030.4	+	8	1074	c.725C>T	c.(724-726)tCc>tTc	p.S242F	AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Missense_Mutation_p.S242F|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Missense_Mutation_p.S242F	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	242	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCAACCTCTCCAAGATGCCC	0.642																																																	0													55	55	55					19																	54627905		2203	4300	6503	SO:0001583	missense	26121			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.725C>T	19.37:g.54627905C>T	ENSP00000324122:p.Ser242Phe		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC	p.S242F	ENST00000321030.4	37	c.725	CCDS12879.1	19	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047126	0.93740	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.16	5.16	0.70880	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.992	D	0.94000	0.7274	10	0.87932	D	0	-24.5516	17.7971	0.88575	0.0:1.0:0.0:0.0	.	242;242	E7ESA8;Q8WWY3	.;PRP31_HUMAN	F	242	ENSP00000324122:S242F;ENSP00000395894:S242F;ENSP00000405166:S242F;ENSP00000408980:S242F;ENSP00000395089:S242F;ENSP00000375635:S242F	ENSP00000263436:S242F	S	+	2	0	PRPF31	59319717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.976000	0.76135	2.584000	0.87258	0.561000	0.74099	TCC	PRPF31	-	pfam_SnoRNA-bd_dom		0.642	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF31	HGNC	protein_coding	OTTHUMT00000141417.2	C			54627905	1	no_errors	ENST00000321030	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54627905	C	T	54627905	3	4	164	1	0	0	0	0	1	0	0	0	12593	855	30	1	751	1	PRPF31	19	54627905	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	772333	54627905	4501078	667	31455										
TMC4	147798	genome.wustl.edu	37	chr19	54664211	54664211	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccgcctggctcaccgtctgtCtctgacgtttgagctcagag							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:54664211C>T	ENST00000376591.4	-	14	2194	c.2063G>A	c.(2062-2064)aGa>aAa	p.R688K	TMC4_ENST00000301187.4_Missense_Mutation_p.R682K|TMC4_ENST00000416963.1_Missense_Mutation_p.R270K|LENG1_ENST00000222224.3_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	688					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACCGTCTGTCTCtgacgttt	0.597																																																	0													58	61	60					19																	54664211		2203	4300	6503	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2063G>A	19.37:g.54664211C>T	ENSP00000365776:p.Arg688Lys		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.R682K	ENST00000376591.4	37	c.2045	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739005	0.49045	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.71934	-0.6;-0.61;-0.6	4.52	2.38	0.29361	.	0.471110	0.23510	N	0.047419	T	0.51975	0.1706	N	0.08118	0	0.09310	N	1	B;B;B	0.29646	0.109;0.253;0.036	B;B;B	0.36464	0.043;0.225;0.097	T	0.51284	-0.8725	10	0.87932	D	0	-0.5998	8.8864	0.35406	0.6023:0.3977:0.0:0.0	.	688;682;270	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	K	682;270;688	ENSP00000301187:R682K;ENSP00000405023:R270K;ENSP00000365776:R688K	ENSP00000301187:R682K	R	-	2	0	TMC4	59356023	0.435000	0.25577	0.431000	0.26735	0.959000	0.62525	2.767000	0.47637	0.352000	0.24053	-0.271000	0.10264	AGA	TMC4	-	NULL		0.597	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	C			54664211	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	missense	SNP	0.106	T	T	54664211	C	T	54664211	3	4	164	1	0	0	0	0	1	0	0	0	16017	913	32	1	83	1	TMC4	19	54664211	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	36306	54664211	4464772	668	31456	203	2								
TMC4	147798	genome.wustl.edu	37	chr19	54664213	54664213	+	Silent	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcctggctcaccgtctgtctCtgacgtttgagctcagagat							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:54664213C>T	ENST00000376591.4	-	14	2192	c.2061G>A	c.(2059-2061)caG>caA	p.Q687Q	TMC4_ENST00000301187.4_Silent_p.Q681Q|TMC4_ENST00000416963.1_Silent_p.Q269Q|LENG1_ENST00000222224.3_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	687					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCGTCTGTCTCtgacgtttga	0.592																																																	0													58	61	60					19																	54664213		2203	4300	6503	SO:0001819	synonymous_variant	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2061G>A	19.37:g.54664213C>T			Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	pfam_TMC	p.Q681	ENST00000376591.4	37	c.2043	CCDS46174.1	19																																																																																			TMC4	-	NULL		0.592	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	C			54664213	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	silent	SNP	0.194	T	T	54664213	C	T	54664213	2	4	164	1	0	0	0	0	0	0	0	1	16017	912	32	1		1	TMC4	19	54664213	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2	54664213	4464770	669	31457	203	2								
TMC4	147798	genome.wustl.edu	37	chr19	54672253	54672253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggttataggagccgcagggcGaggagatgtcggggccggga	21	7	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:54672253G>A	ENST00000376591.4	-	4	745	c.614C>T	c.(613-615)tCg>tTg	p.S205L	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.S199L	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	205					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCGCAGGGCGAGGAGATGTC	0.662											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													20	17	18					19																	54672253		2167	4257	6424	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.614C>T	19.37:g.54672253G>A	ENSP00000365776:p.Ser205Leu	1002	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.S199L	ENST00000376591.4	37	c.596	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525631	0.27299	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.39406	1.08;1.08;1.08	3.14	3.14	0.36123	.	1.450360	0.04399	N	0.363858	T	0.30448	0.0765	L	0.42686	1.345	0.80722	D	1	P;B	0.42296	0.775;0.172	B;B	0.24394	0.053;0.041	T	0.43032	-0.9416	10	0.24483	T	0.36	-13.4842	10.1101	0.42557	0.0:0.0:1.0:0.0	.	205;199	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	L	199;205;109	ENSP00000301187:S199L;ENSP00000365776:S205L;ENSP00000416444:S109L	ENSP00000301187:S199L	S	-	2	0	TMC4	59364065	0.005000	0.15991	0.413000	0.26509	0.394000	0.30568	1.277000	0.33167	2.071000	0.62044	0.558000	0.71614	TCG	TMC4	-	NULL		0.662	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	G			54672253	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	missense	SNP	0.718	A	A	54672253	G	A	54672253	3	1	164	1	0	0	0	0	1	0	0	0	16017	1059	37	1	1572	1	TMC4	19	54672253	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8040	54672253	4456730	670	31458										
EPS8L1	54869	genome.wustl.edu	37	chr19	55591881	55591881	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	catgaacagaacatggccaaGaaggatctgggggagcagcc	14	9	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:55591881G>A	ENST00000201647.6	+	6	485				EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R7K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R7K|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000592824.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1						positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACATGGCCAAGAAGGATCTGG	0.597																																					Ovarian(149;255 1863 3636 27051 29647)												0													76	63	68					19																	55591881		2203	4299	6502	SO:0001627	intron_variant	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.429+235G>A	19.37:g.55591881G>A			Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.R7K	ENST00000201647.6	37	c.20	CCDS12914.1	19	.	.	.	.	.	.	.	.	.	.	G	9.492	1.101061	0.20552	.	.	ENSG00000131037	ENST00000245618;ENST00000539118	T	0.05580	3.42	2.16	1.03	0.20045	.	.	.	.	.	T	0.02342	0.0072	.	.	.	0.18873	N	0.999985	B	0.06786	0.001	B	0.04013	0.001	T	0.47032	-0.9148	8	0.05833	T	0.94	.	5.1213	0.14862	0.1854:0.0:0.8146:0.0	.	7	Q8TE68-2	.	K	7	ENSP00000245618:R7K	ENSP00000245618:R7K	R	+	2	0	EPS8L1	60283693	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.155000	0.10115	0.225000	0.20959	0.585000	0.79938	AGA	EPS8L1	-	NULL		0.597	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	G	NM_017729		55591881	1	no_errors	ENST00000245618	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55591881	G	A	55591881	1	1	164	0	1	0	0	0	0	0	0	0	5207	942	33	1		1	EPS8L1	19	55591881	Intron	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	919628	55591881	3537102	671	31459										
NLRP9	338321	genome.wustl.edu	37	chr19	56223837	56223837	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcaaagctgcacataactgtCtgacaccagtgtctcctatt	7	12	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:56223837C>G	ENST00000332836.2	-	7	2648	c.2621G>C	c.(2620-2622)aGa>aCa	p.R874T	CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	874						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R874K(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACATAACTGTCTGACACCAGT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											102	97	98					19																	56223837		2201	4294	6495	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2621G>C	19.37:g.56223837C>G	ENSP00000331857:p.Arg874Thr		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R874T	ENST00000332836.2	37	c.2621	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950618	0.34377	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.45276	0.9	4.0	-2.2	0.06994	.	.	.	.	.	T	0.33323	0.0859	L	0.41356	1.27	0.09310	N	1	B	0.28258	0.205	B	0.32928	0.155	T	0.34900	-0.9810	9	0.51188	T	0.08	.	9.351	0.38138	0.0:0.5379:0.0:0.4621	.	874	Q7RTR0	NALP9_HUMAN	T	874	ENSP00000331857:R874T	ENSP00000331857:R874T	R	-	2	0	NLRP9	60915649	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.004000	0.12878	-0.672000	0.05266	-0.356000	0.07607	AGA	NLRP9	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56223837	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	missense	SNP	0.000	G	G	56223837	C	G	56223837	3	3	164	1	0	0	0	0	1	0	0	0	10508	913	32	1	366	1	NLRP9	19	56223837	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	631956	56223837	2905146	672	31460										
NLRP5	126206	genome.wustl.edu	37	chr19	56572782	56572782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctgtggaaatggcagtaccCtgtgcaaataaggaagctgc	13	8	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:56572782C>T	ENST00000390649.3	+	15	3491	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1164					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.P1164H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGCAGTACCCTGTGCAAATA	0.502																																																	1	Substitution - Missense(1)	lung(1)											94	93	93					19																	56572782		1981	4160	6141	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3491C>T	19.37:g.56572782C>T	ENSP00000375063:p.Pro1164Leu		A8MTY4|Q86W29	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P1164L	ENST00000390649.3	37	c.3491	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395468	0.42512	.	.	ENSG00000171487	ENST00000390649	T	0.53640	0.61	3.33	2.22	0.28083	.	.	.	.	.	T	0.37972	0.1023	L	0.50333	1.59	0.09310	N	1	P	0.45474	0.859	B	0.42593	0.392	T	0.13656	-1.0501	9	0.12103	T	0.63	.	7.5253	0.27652	0.2557:0.7443:0.0:0.0	.	1164	P59047	NALP5_HUMAN	L	1164	ENSP00000375063:P1164L	ENSP00000375063:P1164L	P	+	2	0	NLRP5	61264594	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.086000	0.14935	0.896000	0.36366	0.655000	0.94253	CCT	NLRP5	-	NULL		0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	C	NM_153447		56572782	1	no_errors	ENST00000390649	ensembl	human	known	70_37	missense	SNP	0.001	T	T	56572782	C	T	56572782	3	4	164	1	0	0	0	0	1	0	0	0	10504	681	24	4	3549	4	NLRP5	19	56572782	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	348945	56572782	2556201	673	31461										
ZNF471	57573	genome.wustl.edu	37	chr19	57036445	57036445	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctcgtcttttgctcgacatCagagatgtcacactggcaaa	9	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:57036445C>G	ENST00000308031.5	+	5	1142	c.1009C>G	c.(1009-1011)Cag>Gag	p.Q337E	ZNF471_ENST00000591537.1_Missense_Mutation_p.I196M|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGCTCGACATCAGAGATGTCA	0.423																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													44	48	47					19																	57036445		2203	4300	6503	SO:0001583	missense	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1009C>G	19.37:g.57036445C>G	ENSP00000309161:p.Gln337Glu		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q337E	ENST00000308031.5	37	c.1009	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742255	0.30865	.	.	ENSG00000196263	ENST00000308031	T	0.35605	1.3	3.72	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23410	0.0566	N	0.16166	0.38	0.19575	N	0.999962	P	0.37083	0.581	B	0.37650	0.255	T	0.11966	-1.0566	9	0.59425	D	0.04	.	9.7989	0.40753	0.369:0.631:0.0:0.0	.	337	Q9BX82	ZN471_HUMAN	E	337	ENSP00000309161:Q337E	ENSP00000309161:Q337E	Q	+	1	0	ZNF471	61728257	0.000000	0.05858	0.962000	0.40283	0.980000	0.70556	0.026000	0.13599	0.700000	0.31782	0.462000	0.41574	CAG	ZNF471	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	C	NM_020813		57036445	1	no_errors	ENST00000308031	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57036445	C	G	57036445	3	3	164	1	0	0	0	0	1	0	0	0	17960	827	29	1	1023	1	ZNF471	19	57036445	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	463663	57036445	2092538	674	31462										
VN1R1	57191	genome.wustl.edu	37	chr19	57967165	57967165	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagaccatgaagcccaaactCataaaatcaggggaaaaata	7	9	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:57967165C>T	ENST00000321039.3	-	1	689	c.690G>A	c.(688-690)atG>atA	p.M230I	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	230					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AGCCCAAACTCATAAAATCAG	0.413																																																	0													99	89	92					19																	57967165		2203	4300	6503	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.690G>A	19.37:g.57967165C>T	ENSP00000322339:p.Met230Ile		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.M230I	ENST00000321039.3	37	c.690	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	C	6.161	0.397972	0.11696	.	.	ENSG00000178201	ENST00000321039	T	0.08807	3.05	4.11	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01940	0.0061	N	0.00707	-1.245	0.09310	N	1	B	0.17852	0.024	B	0.25140	0.058	T	0.45264	-0.9273	9	0.33141	T	0.24	.	3.2463	0.06798	0.3664:0.1834:0.3625:0.0876	.	230	Q9GZP7	VN1R1_HUMAN	I	230	ENSP00000322339:M230I	ENSP00000322339:M230I	M	-	3	0	VN1R1	62658977	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.351000	0.07711	-0.509000	0.06532	0.603000	0.83216	ATG	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	C	NM_020633		57967165	-1	no_errors	ENST00000321039	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57967165	C	T	57967165	3	4	164	1	0	0	0	0	1	0	0	0	17209	826	29	1	375	1	VN1R1	19	57967165	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	930720	57967165	1161818	675	31463										
ZNF417	147687	genome.wustl.edu	37	chr19	58420610	58420610	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ataagctctctctccagtgtGaccttgctgatgttgaatga	9	9	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:58420610G>C	ENST00000312026.5	-	3	1200	c.1036C>G	c.(1036-1038)Cac>Gac	p.H346D	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.H147D|ZNF417_ENST00000595559.1_Missense_Mutation_p.H345D	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCTCCAGTGTGACCTTGCTGA	0.448																																																	0													139	119	126					19																	58420610		2203	4297	6500	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1036C>G	19.37:g.58420610G>C	ENSP00000311319:p.His346Asp		B4DEU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H346D	ENST00000312026.5	37	c.1036	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	16.18	3.049347	0.55218	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.67698	-0.28;-0.28	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84781	0.5548	H	0.94698	3.57	0.36743	D	0.882346	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.985	D	0.89561	0.3806	9	0.87932	D	0	.	11.5471	0.50700	0.0:0.0:1.0:0.0	.	346;346	F5H0M9;Q8TAU3	.;ZN417_HUMAN	D	346;147	ENSP00000311319:H346D;ENSP00000442760:H147D	ENSP00000311319:H346D	H	-	1	0	ZNF417	63112422	1.000000	0.71417	0.222000	0.23844	0.065000	0.16274	6.549000	0.73900	1.243000	0.43853	0.306000	0.20318	CAC	ZNF417	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	G	NM_152475		58420610	-1	no_errors	ENST00000312026	ensembl	human	known	70_37	missense	SNP	0.997	C	C	58420610	G	C	58420610	3	2	164	1	0	0	0	0	1	0	0	0	17924	1290	45	1	695	1	ZNF417	19	58420610	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	453445	58420610	708373	676	31464										
ZNF274	10782	genome.wustl.edu	37	chr19	58718433	58718433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctccaaggagcagatcctgGagctgctggtgctggagcag	16	10	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:58718433G>A	ENST00000326804.4	+	6	1060	c.601G>A	c.(601-603)Gag>Aag	p.E201K	ZNF274_ENST00000424679.2_Missense_Mutation_p.E96K|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.E169K	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	202	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GCAGATCCTGGAGCTGCTGGT	0.607																																																	0													24	26	26					19																	58718433		2203	4300	6503	SO:0001583	missense	10782			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.601G>A	19.37:g.58718433G>A	ENSP00000321209:p.Glu201Lys		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E201K	ENST00000326804.4	37	c.601		19	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458207	0.84317	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.10192	2.9;2.9;2.9	4.46	4.46	0.54185	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.41294	D	0.000917	T	0.31104	0.0786	.	.	.	0.31570	N	0.656391	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.994;0.994;0.996	T	0.23261	-1.0193	9	0.87932	D	0	-35.3659	13.3344	0.60509	0.0:0.0:1.0:0.0	.	97;170;202	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	K	201;169;96	ENSP00000321209:E201K;ENSP00000321187:E169K;ENSP00000409872:E96K	ENSP00000321209:E201K	E	+	1	0	ZNF274	63410245	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.569000	0.45973	2.422000	0.82143	0.655000	0.94253	GAG	ZNF274	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.607	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF274	HGNC	protein_coding		G	NM_133502		58718433	1	no_errors	ENST00000326804	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58718433	G	A	58718433	3	1	164	1	0	0	0	0	1	0	0	0	17839	1183	41	1	617	1	ZNF274	19	58718433	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	297823	58718433	410550	677	31465										
ZNF8	7554	genome.wustl.edu	37	chr19	58806608	58806608	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtgggaagtgtttcattcaGagctctcacctcatccggca	10	11	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:58806608G>C	ENST00000196548.5	+	4	1565	c.1434G>C	c.(1432-1434)caG>caC	p.Q478H	ZNF8_ENST00000608843.1_Missense_Mutation_p.Q478H|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	478					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GTTTCATTCAGAGCTCTCACC	0.557																																																	0													139	152	148					19																	58806608		2203	4300	6503	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1434G>C	19.37:g.58806608G>C	ENSP00000196548:p.Gln478His		Q6PI99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q478H	ENST00000196548.5	37	c.1434	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382007	0.42207	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.50548	0.74	4.58	3.46	0.39613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000290	T	0.38719	0.1051	L	0.41415	1.275	0.30703	N	0.750102	B	0.29909	0.261	B	0.37144	0.242	T	0.37126	-0.9719	10	0.38643	T	0.18	-17.1779	7.3805	0.26854	0.0:0.1808:0.6323:0.1869	.	478	P17098	ZNF8_HUMAN	H	478;193	ENSP00000196548:Q478H	ENSP00000196548:Q478H	Q	+	3	2	ZNF8	63498420	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.010000	0.12743	2.544000	0.85801	0.549000	0.68633	CAG	ZNF8	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58806608	1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	0.967	C	C	58806608	G	C	58806608	3	2	164	1	0	0	0	0	1	0	0	0	18197	933	33	1	1448	1	ZNF8	19	58806608	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	88175	58806608	322375	678	31466										
RPS5	6193	genome.wustl.edu	37	chr19	58904758	58904758	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtcctggtgaacgccatcatCaacagtggtccccgggagga	13	12	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:58904758C>G	ENST00000596046.1	+	3	1200	c.351C>G	c.(349-351)atC>atG	p.I117M	AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000196551.3_Missense_Mutation_p.I117M|RPS5_ENST00000598495.1_Missense_Mutation_p.I138M|RPS5_ENST00000601521.1_Missense_Mutation_p.I117M|RPS5_ENST00000598098.1_Missense_Mutation_p.I47M			P46782	RS5_HUMAN	ribosomal protein S5	117					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		ACGCCATCATCAACAGTGGTC	0.597																																																	0													113	92	99					19																	58904758		2203	4300	6503	SO:0001583	missense	6193			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.351C>G	19.37:g.58904758C>G	ENSP00000472985:p.Ile117Met		B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.I117M	ENST00000596046.1	37	c.351	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447256	0.43429	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.78	3.75	0.43078	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.82630	2.6	0.58432	D	0.999999	P	0.52061	0.95	D	0.63033	0.91	T	0.79829	-0.1638	9	0.87932	D	0	-25.5841	11.0404	0.47827	0.0:0.9076:0.0:0.0924	.	117	P46782	RS5_HUMAN	M	117	.	ENSP00000196551:I117M	I	+	3	3	RPS5	63596570	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.483000	0.45233	1.165000	0.42670	0.655000	0.94253	ATC	RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc		0.597	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	C	NM_001009		58904758	1	no_errors	ENST00000196551	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58904758	C	G	58904758	3	3	164	1	0	0	0	0	1	0	0	0	13678	816	29	1	361	1	RPS5	19	58904758	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	98150	58904758	224225	679	31467										
NSFL1C	55968	genome.wustl.edu	37	chr20	1434905	1434905	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcctgccacataggcagactCttcctctggtgctgccccaa							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:1434905C>T	ENST00000216879.4	-	5	1357	c.490G>A	c.(490-492)Gag>Aag	p.E164K	NSFL1C_ENST00000353088.2_Intron|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E166K|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E166K|NSFL1C_ENST00000381658.4_Missense_Mutation_p.E53K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	164						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TAGGCAGACTCTTCCTCTGGT	0.512																																																	0													100	80	87					20																	1434905		2203	4300	6503	SO:0001583	missense	55968			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.490G>A	20.37:g.1434905C>T	ENSP00000216879:p.Glu164Lys		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX	p.E166K	ENST00000216879.4	37	c.496	CCDS13015.1	20	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944593	0.73672	.	.	ENSG00000088833	ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T	0.45668	0.89;0.9;0.9;0.89	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.971	T	0.47674	-0.9099	10	0.14656	T	0.56	-19.2017	17.0106	0.86405	0.0:1.0:0.0:0.0	.	53;164	Q9UNZ2-6;Q9UNZ2	.;NSF1C_HUMAN	K	166;164;53;166	ENSP00000418529:E166K;ENSP00000216879:E164K;ENSP00000371074:E53K;ENSP00000202584:E166K	ENSP00000216879:E164K	E	-	1	0	NSFL1C	1382905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.936000	0.63506	2.756000	0.94617	0.563000	0.77884	GAG	NSFL1C	-	NULL		0.512	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NSFL1C	HGNC	protein_coding	OTTHUMT00000077525.2	C	NM_016143		1434905	-1	no_errors	ENST00000350991	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1434905	C	T	1434905	3	4	164	1	0	0	0	0	1	0	0	0	10696	922	32	1	642	1	NSFL1C	20	1434905	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09		1434905	61590615	680	31468	204	2								
NSFL1C	55968	genome.wustl.edu	37	chr20	1434911	1434911	+	Missense_Mutation	SNP	C	C	T													0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacataggcagactcttcctCtggtgctgccccaaggcggt							TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:1434911C>T	ENST00000216879.4	-	5	1351	c.484G>A	c.(484-486)Gag>Aag	p.E162K	NSFL1C_ENST00000353088.2_Intron|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E164K|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E164K|NSFL1C_ENST00000381658.4_Missense_Mutation_p.E51K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	162						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GACTCTTCCTCTGGTGCTGCC	0.522																																																	0													96	78	84					20																	1434911		2203	4300	6503	SO:0001583	missense	55968			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.484G>A	20.37:g.1434911C>T	ENSP00000216879:p.Glu162Lys		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX	p.E164K	ENST00000216879.4	37	c.490	CCDS13015.1	20	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035630	0.54896	.	.	ENSG00000088833	ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T	0.46451	0.87;0.88;0.89;0.88	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.39860	0.1094	L	0.35414	1.06	0.58432	D	0.999994	P;P	0.51057	0.932;0.941	P;P	0.49332	0.48;0.607	T	0.04885	-1.0920	10	0.10636	T	0.68	-19.7042	17.0106	0.86405	0.0:1.0:0.0:0.0	.	51;162	Q9UNZ2-6;Q9UNZ2	.;NSF1C_HUMAN	K	164;162;51;164	ENSP00000418529:E164K;ENSP00000216879:E162K;ENSP00000371074:E51K;ENSP00000202584:E164K	ENSP00000216879:E162K	E	-	1	0	NSFL1C	1382911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.009000	0.63998	2.756000	0.94617	0.563000	0.77884	GAG	NSFL1C	-	NULL		0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NSFL1C	HGNC	protein_coding	OTTHUMT00000077525.2	C	NM_016143		1434911	-1	no_errors	ENST00000350991	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1434911	C	T	1434911	3	4	164	1	0	0	0	0	1	0	0	0	10696	922	32	1	648	1	NSFL1C	20	1434911	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	6	1434911	61590609	681	31469	204	2								
TGM3	7053	genome.wustl.edu	37	chr20	2315878	2315878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgagtctgaggtggtggtgGagcgggacatcatcctggac	17	7	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:2315878G>A	ENST00000381458.5	+	11	1822	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	587					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGTGGTGGTGGAGCGGGACAT	0.582																																																	0													164	130	142					20																	2315878		2203	4300	6503	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1759G>A	20.37:g.2315878G>A	ENSP00000370867:p.Glu587Lys		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E587K	ENST00000381458.5	37	c.1759	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218706	0.39201	.	.	ENSG00000125780	ENST00000381458	T	0.65732	-0.17	5.13	5.13	0.70059	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.609668	0.17747	N	0.163350	T	0.56834	0.2012	M	0.66939	2.045	0.41473	D	0.988115	B	0.20261	0.043	B	0.10450	0.005	T	0.52646	-0.8548	10	0.22109	T	0.4	-1.0593	9.664	0.39972	0.0952:0.0:0.9048:0.0	.	587	Q08188	TGM3_HUMAN	K	587	ENSP00000370867:E587K	ENSP00000370867:E587K	E	+	1	0	TGM3	2263878	0.977000	0.34250	0.912000	0.35992	0.816000	0.46133	2.235000	0.43044	2.363000	0.80096	0.561000	0.74099	GAG	TGM3	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.582	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	G	NM_003245		2315878	1	no_errors	ENST00000381458	ensembl	human	known	70_37	missense	SNP	0.976	A	A	2315878	G	A	2315878	3	1	164	1	0	0	0	0	1	0	0	0	15861	1175	41	1	1801	1	TGM3	20	2315878	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	880967	2315878	60709642	682	31470										
VPS16	64601	genome.wustl.edu	37	chr20	2841412	2841412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aggtctgcaaagtgcaccctCctgctggactgtgctgtgcc	12	13	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:2841412C>G	ENST00000380445.3	+	6	605	c.533C>G	c.(532-534)tCc>tGc	p.S178C	VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000380469.3_Missense_Mutation_p.S178C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	178					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGTGCACCCTCCTGCTGGACT	0.562																																																	0													72	64	66					20																	2841412		2203	4300	6503	SO:0001583	missense	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.533C>G	20.37:g.2841412C>G	ENSP00000369810:p.Ser178Cys		Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.S178C	ENST00000380445.3	37	c.533	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841794	0.51057	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.50548	0.76;0.74	5.95	5.95	0.96441	Vps16, N-terminal (1);	0.262604	0.38897	N	0.001530	T	0.70692	0.3253	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.69479	0.896;0.964	T	0.71932	-0.4443	10	0.56958	D	0.05	-6.7702	17.8727	0.88815	0.0:1.0:0.0:0.0	.	178;178	Q9H269-2;Q9H269	.;VPS16_HUMAN	C	178;178;60;60	ENSP00000369810:S178C;ENSP00000369836:S178C	ENSP00000369810:S178C	S	+	2	0	VPS16	2789412	0.895000	0.30542	0.579000	0.28588	0.496000	0.33645	4.452000	0.60054	2.826000	0.97356	0.563000	0.77884	TCC	VPS16	-	pfam_Vps16_N,pirsf_VPS16		0.562	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	C	NM_022575		2841412	1	no_errors	ENST00000380445	ensembl	human	known	70_37	missense	SNP	0.753	G	G	2841412	C	G	2841412	3	3	164	1	0	0	0	0	1	0	0	0	17224	855	30	1	555	1	VPS16	20	2841412	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	525534	2841412	60184108	683	31471										
RALGAPA2	57186	genome.wustl.edu	37	chr20	20491928	20491928	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agtccaaatttttcagctctCtcaataattttgaatttttc	3	8	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:20491928C>G	ENST00000202677.7	-	33	4905	c.4898G>C	c.(4897-4899)aGa>aCa	p.R1633T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1633					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTTCAGCTCTCTCAATAATTT	0.333																																																	0													32	29	30					20																	20491928		1785	4055	5840	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4898G>C	20.37:g.20491928C>G	ENSP00000202677:p.Arg1633Thr		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.R1633T	ENST00000202677.7	37	c.4898	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.865863|4.865863	0.91511|0.91511	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436;ENST00000427175|ENST00000417022;ENST00000202677	.|D;D	.|0.94280	.|-3.39;-3.39	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97480|0.97480	0.9175|0.9175	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|D;D;D	.|0.87578	.|0.954;0.998;0.992	D|D	0.97919|0.97919	1.0313|1.0313	5|10	.|0.87932	.|D	.|0	.|.	19.6984|19.6984	0.96043|0.96043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1471;1633;1633	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	Q|T	1450;44|63;1633	.|ENSP00000408332:R63T;ENSP00000202677:R1633T	.|ENSP00000202677:R1633T	E|R	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20439928|20439928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.764000|7.764000	0.85297|0.85297	2.658000|2.658000	0.90341|0.90341	0.655000|0.655000	0.94253|0.94253	GAG|AGA	RALGAPA2	-	NULL		0.333	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20491928	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20491928	C	G	20491928	3	3	164	1	0	0	0	0	1	0	0	0	13044	913	32	1	751	1	RALGAPA2	20	20491928	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	17650516	20491928	42533592	684	31472										
TTLL9	164395	genome.wustl.edu	37	chr20	30526994	30526994	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctttgacctcatgtggaatGatggccctgttagcagagag	13	8	1	3	rs200854952		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:30526994G>A	ENST00000375938.4	+	14	1421	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	TTLL9_ENST00000535842.1_Missense_Mutation_p.D390N|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375921.2_3'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	390					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGTGGAATGATGGCCCTGT	0.592																																																	0								G	ASN/ASP	13,3915		0,13,1951	75	82	80		1168	5.7	1	20		80	0,8278		0,0,4139	yes	missense	TTLL9	NM_001008409.2	23	0,13,6090	AA,AG,GG		0.0,0.331,0.1065	benign	390/440	30526994	13,12193	1964	4139	6103	SO:0001583	missense	164395			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1168G>A	20.37:g.30526994G>A	ENSP00000365105:p.Asp390Asn		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.D390N	ENST00000375938.4	37	c.1168	CCDS42863.1	20	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725949	0.48833	0.00331	0.0	ENSG00000131044	ENST00000375938;ENST00000535842	T;T	0.03663	3.85;3.85	5.66	5.66	0.87406	.	0.107041	0.64402	D	0.000009	T	0.04588	0.0125	L	0.45137	1.4	0.80722	D	1	B;B	0.32203	0.36;0.123	B;B	0.30029	0.11;0.019	T	0.51379	-0.8713	10	0.13108	T	0.6	.	16.4736	0.84125	0.0:0.0:1.0:0.0	.	390;292	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	N	390	ENSP00000365105:D390N;ENSP00000442515:D390N	ENSP00000365105:D390N	D	+	1	0	TTLL9	29990655	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.425000	0.66470	2.680000	0.91292	0.561000	0.74099	GAT	TTLL9	-	NULL		0.592	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		G	NM_001008409		30526994	1	no_errors	ENST00000375938	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30526994	G	A	30526994	3	1	164	1	0	0	0	0	1	0	0	0	16765	1290	45	1	1218	1	TTLL9	20	30526994	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	10035066	30526994	32498526	685	31473										
KIF3B	9371	genome.wustl.edu	37	chr20	30918001	30918001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gccggaccaccagagactatGagggtccagccattgccccc	11	16	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:30918001G>A	ENST00000375712.3	+	8	2193	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	KIF3B_ENST00000418717.2_Missense_Mutation_p.E302K	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	676	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGAGACTATGAGGGTCCAGC	0.542																																																	0													68	62	64					20																	30918001		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2026G>A	20.37:g.30918001G>A	ENSP00000364864:p.Glu676Lys		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E676K	ENST00000375712.3	37	c.2026	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079638	0.76528	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.75050	-0.9;0.38	4.62	4.62	0.57501	.	0.058459	0.64402	D	0.000002	T	0.73063	0.3539	M	0.75264	2.295	0.58432	D	0.999996	B;P	0.39282	0.356;0.666	B;B	0.33339	0.115;0.162	T	0.77191	-0.2678	10	0.44086	T	0.13	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	302;676	B4DSR5;O15066	.;KIF3B_HUMAN	K	676;302	ENSP00000364864:E676K;ENSP00000406287:E302K	ENSP00000364864:E676K	E	+	1	0	KIF3B	30381662	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	5.776000	0.68924	2.559000	0.86315	0.655000	0.94253	GAG	KIF3B	-	NULL		0.542	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	G	NM_004798		30918001	1	no_errors	ENST00000375712	ensembl	human	known	70_37	missense	SNP	0.998	A	A	30918001	G	A	30918001	3	1	164	1	0	0	0	0	1	0	0	0	8321	1291	45	1	2052	1	KIF3B	20	30918001	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	391007	30918001	32107519	686	31474										
SUN5	140732	genome.wustl.edu	37	chr20	31573640	31573640	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gttggacaggtaaaccttctGagccaattggatggtcacct	11	9	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:31573640G>A	ENST00000356173.3	-	11	891	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	SUN5_ENST00000375523.3_Nonsense_Mutation_p.Q242*	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	267	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TAAACCTTCTGAGCCAATTGG	0.552																																																	0													159	118	132					20																	31573640		2203	4300	6503	SO:0001587	stop_gained	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.799C>T	20.37:g.31573640G>A	ENSP00000348496:p.Gln267*		A6NJ82|Q5T9R0	Nonsense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.Q267*	ENST00000356173.3	37	c.799	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.381829	0.95967	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	.	.	.	5.71	4.7	0.59300	.	0.393945	0.28499	N	0.015135	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-24.4905	10.2235	0.43212	0.0:0.0:0.7552:0.2448	.	.	.	.	X	267;242	.	ENSP00000348496:Q267X	Q	-	1	0	SUN5	31037301	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.393000	0.34497	2.688000	0.91661	0.655000	0.94253	CAG	SUN5	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like		0.552	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	G	NM_080675		31573640	-1	no_errors	ENST00000356173	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	31573640	G	A	31573640	4	1	164	1	0	0	0	0	0	1	0	0	15424	1299	45	1	352	1	SUN5	20	31573640	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	655639	31573640	31451880	687	31475										
GGT7	2686	genome.wustl.edu	37	chr20	33460525	33460525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgcgggcgccggctcgtcctCgggcagccgcgggaagctgg	19	15	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:33460525C>T	ENST00000336431.5	-	1	138	c.94G>A	c.(94-96)Gag>Aag	p.E32K	ACSS2_ENST00000336325.4_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	32					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGCTCGTCCTCGGGCAGCCGC	0.731																																																	0													5	7	6					20																	33460525		2073	4040	6113	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.94G>A	20.37:g.33460525C>T	ENSP00000338964:p.Glu32Lys		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E32K	ENST00000336431.5	37	c.94	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	C	34	5.359313	0.95854	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.46063	3.27;0.88	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.987;0.98;0.97	T	0.65434	-0.6169	10	0.87932	D	0	.	16.4704	0.84109	0.0:1.0:0.0:0.0	.	32;32;32	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	K	32	ENSP00000338964:E32K;ENSP00000394993:E32K	ENSP00000338964:E32K	E	-	1	0	GGT7	32924186	1.000000	0.71417	0.970000	0.41538	0.809000	0.45718	7.063000	0.76714	2.202000	0.70862	0.313000	0.20887	GAG	GGT7	-	NULL		0.731	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	C	NM_178026		33460525	-1	no_errors	ENST00000336431	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	33460525	C	T	33460525	3	4	164	1	0	0	0	0	1	0	0	0	6383	893	31	1	1954	1	GGT7	20	33460525	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1886885	33460525	29564995	688	31476										
RBL1	5933	genome.wustl.edu	37	chr20	35661206	35661206	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcagtaagtgatacaggactCttgactttggactcctgatt	10	8	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:35661206C>A	ENST00000373664.3	-	16	2310	c.2244G>T	c.(2242-2244)aaG>aaT	p.K748N	RBL1_ENST00000344359.3_Missense_Mutation_p.K748N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	748	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATACAGGACTCTTGACTTTGG	0.388																																																	0													188	169	176					20																	35661206		2203	4300	6503	SO:0001583	missense	5933			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2244G>T	20.37:g.35661206C>A	ENSP00000362768:p.Lys748Asn		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like	p.K748N	ENST00000373664.3	37	c.2244	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	C	8.997	0.979251	0.18812	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92699	-2.86;-3.09	5.3	2.29	0.28610	.	0.154081	0.44285	D	0.000469	T	0.80396	0.4615	N	0.14661	0.345	0.24732	N	0.993084	B;B	0.13145	0.007;0.001	B;B	0.17722	0.019;0.013	T	0.63941	-0.6523	10	0.17832	T	0.49	-25.1933	4.7987	0.13284	0.0:0.4601:0.2978:0.242	.	748;748	P28749-2;P28749	.;RBL1_HUMAN	N	748	ENSP00000362768:K748N;ENSP00000343646:K748N	ENSP00000343646:K748N	K	-	3	2	RBL1	35094620	0.705000	0.27846	0.976000	0.42696	0.997000	0.91878	-0.192000	0.09587	0.376000	0.24707	0.650000	0.86243	AAG	RBL1	-	NULL		0.388	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	C	NM_002895		35661206	-1	no_errors	ENST00000373664	ensembl	human	known	70_37	missense	SNP	0.996	A	A	35661206	C	A	35661206	3	1	164	1	0	0	0	0	1	0	0	0	13139	912	32	3	999	3	RBL1	20	35661206	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2200681	35661206	27364314	689	31477										
KIAA1755	85449	genome.wustl.edu	37	chr20	36856603	36856603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtgggggctgtctcctggcGtcaatcaggaccgccagccc	14	14	3	0	rs112826952	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:36856603G>A	ENST00000279024.4	-	6	2182	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	637										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GTCTCCTGGCGTCAATCAGGA	0.622																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	43	40	41		1911	1.3	0.7	20	dbSNP_132	41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1755	NM_001029864.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		637/1201	36856603	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1911C>T	20.37:g.36856603G>A			Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.D637	ENST00000279024.4	37	c.1911	CCDS33467.1	20																																																																																			KIAA1755	-	superfamily_CRAL-TRIO_dom		0.622	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	G	NM_001029864		36856603	-1	no_errors	ENST00000279024	ensembl	human	known	70_37	silent	SNP	0.987	A	A	36856603	G	A	36856603	2	1	164	1	0	0	0	0	0	0	0	1	8277	1136	40	2		2	KIAA1755	20	36856603	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1195397	36856603	26168917	690	31478										
ACTR5	79913	genome.wustl.edu	37	chr20	37378768	37378768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gattcccaaggttgcctatgGaatagacagcctcttcagct	9	11	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:37378768G>A	ENST00000243903.4	+	2	528	c.491G>A	c.(490-492)gGa>gAa	p.G164E		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	164					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTTGCCTATGGAATAGACAGC	0.458																																																	0													150	136	141					20																	37378768		2203	4300	6503	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.491G>A	20.37:g.37378768G>A	ENSP00000243903:p.Gly164Glu		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.G164E	ENST00000243903.4	37	c.491	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685252	0.88639	.	.	ENSG00000101442	ENST00000243903	D	0.94576	-3.46	4.71	4.71	0.59529	.	0.112351	0.64402	D	0.000011	D	0.97723	0.9253	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98816	1.0745	10	0.87932	D	0	-16.9616	18.054	0.89358	0.0:0.0:1.0:0.0	.	164	Q9H9F9	ARP5_HUMAN	E	164	ENSP00000243903:G164E	ENSP00000243903:G164E	G	+	2	0	ACTR5	36812182	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.371000	0.97162	2.326000	0.78906	0.563000	0.77884	GGA	ACTR5	-	pfam_Actin-like,smart_Actin-like		0.458	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	G	NM_024855		37378768	1	no_errors	ENST00000243903	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37378768	G	A	37378768	3	1	164	1	0	0	0	0	1	0	0	0	215	1174	41	1	497	1	ACTR5	20	37378768	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	522165	37378768	25646752	691	31479										
CHD6	84181	genome.wustl.edu	37	chr20	40034123	40034123	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	attgaacttgttttctggaaGaaacccctggaaaaacaaag	8	7	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:40034123G>A	ENST00000373233.3	-	37	7435	c.7258C>T	c.(7258-7260)Ctt>Ttt	p.L2420F	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2420					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTTCTGGAAGAAACCCCTGG	0.567																																																	0													21	25	24					20																	40034123		2201	4299	6500	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7258C>T	20.37:g.40034123G>A	ENSP00000362330:p.Leu2420Phe		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L2420F	ENST00000373233.3	37	c.7258	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825384	0.71143	.	.	ENSG00000124177	ENST00000373233	T	0.46063	0.88	5.53	5.53	0.82687	BRK domain (1);	0.119627	0.38164	N	0.001799	T	0.56156	0.1966	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55823	-0.8080	10	0.66056	D	0.02	-15.4501	10.3844	0.44132	0.1142:0.0:0.8858:0.0	.	2420	Q8TD26	CHD6_HUMAN	F	2420	ENSP00000362330:L2420F	ENSP00000362330:L2420F	L	-	1	0	CHD6	39467537	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.693000	0.61753	2.882000	0.98803	0.655000	0.94253	CTT	CHD6	-	pfam_BRK_domain,smart_BRK_domain		0.567	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	G			40034123	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40034123	G	A	40034123	3	1	164	1	0	0	0	0	1	0	0	0	3334	942	33	1	893	1	CHD6	20	40034123	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2655355	40034123	22991397	692	31480										
PABPC1L	80336	genome.wustl.edu	37	chr20	43547895	43547895	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gctttggctttgtcaactttGagaagcatgaggaagcccag	12	8	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:43547895G>A	ENST00000217073.2	+	5	715	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PABPC1L_ENST00000537323.1_Missense_Mutation_p.E239K|PABPC1L_ENST00000255136.3_Missense_Mutation_p.E239K|PABPC1L_ENST00000217074.4_Missense_Mutation_p.E239K			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	239	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGTCAACTTTGAGAAGCATGA	0.577																																																	0													63	58	60					20																	43547895		1568	3582	5150	SO:0001583	missense	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.715G>A	20.37:g.43547895G>A	ENSP00000217073:p.Glu239Lys		Q4VY17	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.E239K	ENST00000217073.2	37	c.715	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266845	0.80469	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.15	4.2	0.49525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.357768	0.32671	N	0.005782	D	0.85513	0.5714	L	0.35644	1.08	0.47949	D	0.99955	P	0.43094	0.799	P	0.51657	0.676	D	0.85921	0.1446	10	0.48119	T	0.1	.	15.89	0.79291	0.0:0.1355:0.8645:0.0	.	239	Q4VXU2	PAP1L_HUMAN	K	239	ENSP00000217074:E239K;ENSP00000255136:E239K;ENSP00000445661:E239K;ENSP00000217073:E239K	ENSP00000217073:E239K	E	+	1	0	PABPC1L	42981309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.446000	0.73460	1.385000	0.46445	0.563000	0.77884	GAG	PABPC1L	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.577	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	G			43547895	1	no_errors	ENST00000217073	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43547895	G	A	43547895	3	1	164	1	0	0	0	0	1	0	0	0	11388	1291	45	1	733	1	PABPC1L	20	43547895	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	3513772	43547895	19477625	693	31481										
ELMO2	63916	genome.wustl.edu	37	chr20	45003955	45003955	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccaggggcattgctaggatCagactctgcgtcaaatgcaa	11	11	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:45003955C>G	ENST00000290246.6	-	13	1179	c.985G>C	c.(985-987)Gat>Cat	p.D329H	ELMO2_ENST00000396391.1_Missense_Mutation_p.D329H|ELMO2_ENST00000454865.2_Missense_Mutation_p.D61H|ELMO2_ENST00000372176.1_Missense_Mutation_p.D241H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_Missense_Mutation_p.D146H|ELMO2_ENST00000439931.2_Missense_Mutation_p.D341H|ELMO2_ENST00000352077.2_Missense_Mutation_p.D327H	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	329	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTGCTAGGATCAGACTCTGCG	0.488																																																	0													182	114	137					20																	45003955		2203	4300	6503	SO:0001583	missense	63916			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.985G>C	20.37:g.45003955C>G	ENSP00000290246:p.Asp329His		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.D341H	ENST00000290246.6	37	c.1021	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862628	0.91511	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T;T	0.33654	2.4;2.14;2.4;2.41;1.83;1.84;2.4;1.4;1.77	4.81	4.81	0.61882	Engulfment/cell motility, ELMO (2);	0.046212	0.85682	D	0.000000	T	0.51805	0.1696	L	0.46157	1.445	0.80722	D	1	P;P;P;P;P	0.52463	0.865;0.86;0.953;0.916;0.916	P;P;P;P;P	0.62014	0.726;0.811;0.863;0.726;0.897	T	0.52139	-0.8615	10	0.59425	D	0.04	-28.0823	17.0502	0.86516	0.0:1.0:0.0:0.0	.	341;61;329;146;329	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	H	329;241;329;341;146;61;327;117;329	ENSP00000290246:D329H;ENSP00000361249:D241H;ENSP00000379673:D329H;ENSP00000396519:D341H;ENSP00000409920:D146H;ENSP00000415641:D61H;ENSP00000326172:D327H;ENSP00000388962:D117H;ENSP00000416181:D329H	ENSP00000290246:D329H	D	-	1	0	ELMO2	44437362	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.651000	0.83577	2.489000	0.83994	0.555000	0.69702	GAT	ELMO2	-	pfam_Engulfment_cell_motility_ELMO		0.488	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	C	NM_022086		45003955	-1	no_errors	ENST00000439931	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45003955	C	G	45003955	3	3	164	1	0	0	0	0	1	0	0	0	5078	826	29	1	1217	1	ELMO2	20	45003955	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1456060	45003955	18021565	694	31482										
ARFGEF2	10564	genome.wustl.edu	37	chr20	47591314	47591314	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtcccttaggagctcagcctGaggaagaaaggcctggagtg	15	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:47591314G>A	ENST00000371917.4	+	13	1677	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	559					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGCTCAGCCTGAGGAAGAAAG	0.522																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													89	78	82					20																	47591314		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1677G>A	20.37:g.47591314G>A			Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.L559	ENST00000371917.4	37	c.1677	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold		0.522	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	G	NM_006420		47591314	1	no_errors	ENST00000371917	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47591314	G	A	47591314	2	1	164	1	0	0	0	0	0	0	0	1	853	1277	45	1		1	ARFGEF2	20	47591314	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2587359	47591314	15434206	695	31483										
CSE1L	1434	genome.wustl.edu	37	chr20	47689161	47689161	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtgagagacctcattataaGaatctatttgaggaccagaa	9	6	2	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:47689161G>A	ENST00000262982.2	+	10	1116	c.993G>A	c.(991-993)aaG>aaA	p.K331K	CSE1L_ENST00000542325.1_Silent_p.K114K|CSE1L_ENST00000396192.3_Silent_p.K275K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	331					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTCATTATAAGAATCTATTTG	0.323																																																	0													91	90	90					20																	47689161		2203	4299	6502	SO:0001819	synonymous_variant	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.993G>A	20.37:g.47689161G>A			A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.K331	ENST00000262982.2	37	c.993	CCDS13412.1	20																																																																																			CSE1L	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold		0.323	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47689161	1	no_errors	ENST00000262982	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47689161	G	A	47689161	2	1	164	1	0	0	0	0	0	0	0	1	3935	933	33	1		1	CSE1L	20	47689161	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	97847	47689161	15336359	696	31484										
NFATC2	4773	genome.wustl.edu	37	chr20	50158912	50158912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gggtagcctccaccgaccttCgttcggattcaaatactcat	8	13	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:50158912C>T	ENST00000396009.3	-	1	346	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	NFATC2_ENST00000371564.3_Missense_Mutation_p.E43K|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000610033.1_5'UTR|NFATC2_ENST00000414705.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	43					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CACCGACCTTCGTTCGGATTC	0.672																																																	0													22	25	24					20																	50158912		2201	4299	6500	SO:0001583	missense	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.127G>A	20.37:g.50158912C>T	ENSP00000379330:p.Glu43Lys		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E43K	ENST00000396009.3	37	c.127	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392653	0.62066	.	.	ENSG00000101096	ENST00000371564;ENST00000396009	T;T	0.15017	2.46;2.46	4.18	4.18	0.49190	.	0.238872	0.33144	N	0.005230	T	0.09686	0.0238	N	0.22421	0.69	0.80722	D	1	P;P	0.47910	0.902;0.813	B;B	0.33254	0.16;0.083	T	0.20338	-1.0278	10	0.32370	T	0.25	.	13.5813	0.61905	0.0:1.0:0.0:0.0	.	43;43	Q13469;B5B2N8	NFAC2_HUMAN;.	K	43	ENSP00000360619:E43K;ENSP00000379330:E43K	ENSP00000360619:E43K	E	-	1	0	NFATC2	49592319	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	1.653000	0.37323	2.020000	0.59435	0.455000	0.32223	GAA	NFATC2	-	NULL		0.672	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	C	NM_012340		50158912	-1	no_errors	ENST00000396009	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50158912	C	T	50158912	3	4	164	1	0	0	0	0	1	0	0	0	10386	893	31	1	2738	1	NFATC2	20	50158912	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2469751	50158912	12866608	697	31485										
C20orf106	200232	genome.wustl.edu	37	chr20	55100944	55100944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cttcccccaacaaagactgtGcattcaataccttaatggaa	5	12	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:55100944G>T	ENST00000371328.3	+	2	657	c.334G>T	c.(334-336)Gca>Tca	p.A112S	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	112						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CAAAGACTGTGCATTCAATAC	0.463																																																	0													113	107	109					20																	55100944		2203	4300	6503	SO:0001583	missense	200232			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.334G>T	20.37:g.55100944G>T	ENSP00000360379:p.Ala112Ser		Q05C43	Missense_Mutation	SNP	NULL	p.A112S	ENST00000371328.3	37	c.334	CCDS33493.1	20	.	.	.	.	.	.	.	.	.	.	G	2.736	-0.263327	0.05754	.	.	ENSG00000124103	ENST00000371328	T	0.10763	2.84	4.27	1.09	0.20402	.	0.443385	0.18686	N	0.134005	T	0.10423	0.0255	L	0.46157	1.445	0.09310	N	1	B	0.28760	0.221	B	0.31614	0.133	T	0.21211	-1.0252	10	0.44086	T	0.13	-1.9766	8.7587	0.34661	0.282:0.0:0.718:0.0	.	112	Q5JX71	CT106_HUMAN	S	112	ENSP00000360379:A112S	ENSP00000360379:A112S	A	+	1	0	C20orf106	54534351	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	0.718000	0.25866	-0.313000	0.08728	-1.465000	0.01017	GCA	FAM209A	-	NULL		0.463	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209A	HGNC	protein_coding	OTTHUMT00000079815.2	G			55100944	1	no_errors	ENST00000371328	ensembl	human	known	70_37	missense	SNP	0.001	T	T	55100944	G	T	55100944	3	4	164	1	0	0	0	0	1	0	0	0	2081	1319	46	4	340	4	C20orf106	20	55100944	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4942032	55100944	7924576	698	31486										
HRH3	11255	genome.wustl.edu	37	chr20	60791269	60791269	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caggcggcccggatgatcatCagcagcgtgtatggggccca	15	12	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:60791269C>G	ENST00000340177.5	-	3	1415	c.1131G>C	c.(1129-1131)ctG>ctC	p.L377L	HRH3_ENST00000317393.6_Silent_p.L377L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	377					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	GGATGATCATCAGCAGCGTGT	0.622																																																	0													53	55	54					20																	60791269		2201	4300	6501	SO:0001819	synonymous_variant	11255			AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.1131G>C	20.37:g.60791269C>G			Q4QRI7|Q9GZX2|Q9H4K8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt	p.L377	ENST00000340177.5	37	c.1131	CCDS13493.1	20																																																																																			HRH3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn		0.622	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH3	HGNC	protein_coding	OTTHUMT00000079994.1	C	NM_007232		60791269	-1	no_errors	ENST00000317393	ensembl	human	known	70_37	silent	SNP	0.108	G	G	60791269	C	G	60791269	2	3	164	1	0	0	0	0	0	0	0	1	7377	813	29	1		1	HRH3	20	60791269	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	5690325	60791269	2234251	699	31487										
COL9A3	1299	genome.wustl.edu	37	chr20	61460830	61460830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctccctggacgagcggggtcCaaaggcgagaagggagaacg	17	10	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:61460830C>T	ENST00000343916.3	+	20	1035	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	344	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GAGCGGGGTCCAAAGGCGAGA	0.697																																																	0													35	43	40					20																	61460830		2199	4299	6498	SO:0001819	synonymous_variant	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1032C>T	20.37:g.61460830C>T			Q13681|Q9H4G9|Q9UPE2	Silent	SNP	pfam_Collagen	p.S344	ENST00000343916.3	37	c.1032	CCDS13505.1	20																																																																																			COL9A3	-	NULL		0.697	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	C	NM_001853		61460830	1	no_errors	ENST00000343916	ensembl	human	known	70_37	silent	SNP	1.000	T	T	61460830	C	T	61460830	2	4	164	1	0	0	0	0	0	0	0	1	3714	581	21	4		4	COL9A3	20	61460830	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	669561	61460830	1564690	700	31488										
LIME1	54923	genome.wustl.edu	37	chr20	62370085	62370085	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcctaccagaccctcccgctCagggccctggatgtggacag	12	16	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:62370085C>G	ENST00000309546.3	+	6	807	c.720C>G	c.(718-720)ctC>ctG	p.L240L	LIME1_ENST00000490824.1_3'UTR|RP4-583P15.15_ENST00000490623.2_3'UTR|RP4-583P15.14_ENST00000467211.1_Intron|SLC2A4RG_ENST00000266077.2_5'Flank|RP4-583P15.14_ENST00000476221.1_3'UTR	NM_017806.2	NP_060276.2	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	240					B cell receptor signaling pathway (GO:0050853)|T cell receptor signaling pathway (GO:0050852)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCTCCCGCTCAGGGCCCTGG	0.687																																																	0													27	32	30					20																	62370085		2197	4296	6493	SO:0001819	synonymous_variant	54923			AK000413	CCDS13536.1	20q13.33	2010-05-11			ENSG00000203896	ENSG00000203896			26016	protein-coding gene	gene with protein product		609809				12477932	Standard	NM_017806		Approved	FLJ20406, dJ583P15.4, LIME	uc002ygp.4	Q9H400	OTTHUMG00000032999	ENST00000309546.3:c.720C>G	20.37:g.62370085C>G			E1P5K5|E1P5K6|Q5JWJ2|Q6XYB3|Q9NX69	Silent	SNP	NULL	p.L240	ENST00000309546.3	37	c.720	CCDS13536.1	20																																																																																			LIME1	-	NULL		0.687	LIME1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LIME1	HGNC	protein_coding	OTTHUMT00000080225.1	C	NM_017806		62370085	1	no_errors	ENST00000309546	ensembl	human	known	70_37	silent	SNP	0.003	G	G	62370085	C	G	62370085	2	3	164	1	0	0	0	0	0	0	0	1	8820	813	29	1		1	LIME1	20	62370085	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	909255	62370085	655435	701	31489										
LIPI	149998	genome.wustl.edu	37	chr21	15517001	15517001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggatcttgtatgtgcatgtgGaacactgcagatttgagctc	12	7	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:15517001G>A	ENST00000536861.1	-	9	1237	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	AP001347.6_ENST00000428809.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.S434F|AP001347.6_ENST00000432621.1_RNA			Q6XZB0	LIPI_HUMAN	lipase, member I	413					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGTGCATGTGGAACACTGCAG	0.308																																																	0													80	84	83					21																	15517001		2203	4296	6499	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1238C>T	21.37:g.15517001G>A	ENSP00000440381:p.Ser413Phe		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.S434F	ENST00000536861.1	37	c.1301		21	.	.	.	.	.	.	.	.	.	.	G	3.118	-0.181236	0.06380	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.88354	-2.37;-2.35	5.34	3.52	0.40303	.	1.059590	0.07327	N	0.878535	T	0.79118	0.4392	N	0.11560	0.145	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.65442	-0.6167	10	0.36615	T	0.2	.	8.341	0.32243	0.1829:0.0:0.8171:0.0	.	434	Q6XZB0-2	.	F	434;413	ENSP00000343331:S434F;ENSP00000440381:S413F	ENSP00000343331:S434F	S	-	2	0	LIPI	14438872	0.000000	0.05858	0.008000	0.14137	0.276000	0.26787	0.499000	0.22546	0.737000	0.32582	0.650000	0.86243	TCC	LIPI	-	pirsf_Lipoprotein_lipase_LIPH		0.308	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	HGNC	protein_coding		G	NM_198996		15517001	-1	no_errors	ENST00000344577	ensembl	human	known	70_37	missense	SNP	0.009	A	A	15517001	G	A	15517001	3	1	164	1	0	0	0	0	1	0	0	0	8846	1174	41	1	152	1	LIPI	21	15517001	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		15517001	32612894	702	31490										
TMEM50B	757	genome.wustl.edu	37	chr21	34841094	34841094	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaccagtctttctcacttacCaatatacctgcgacaacaga	4	13	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:34841094C>T	ENST00000542230.2	-	2	313	c.99G>A	c.(97-99)ttG>ttA	p.L33L		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	33						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						TCTCACTTACCAATATACCTG	0.423																																																	0													148	128	135					21																	34841094		2203	4300	6503	SO:0001630	splice_region_variant	757			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 4"	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.99+1G>A	21.37:g.34841094C>T			B2R4L4|D3DSF1|O60537|Q5PY47	Silent	SNP	pfam_UPF0220	p.L33	ENST00000542230.2	37	c.99	CCDS13625.1	21																																																																																			TMEM50B	-	pfam_UPF0220		0.423	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50B	HGNC	protein_coding	OTTHUMT00000140080.5	C		Silent	34841094	-1	no_errors	ENST00000420455	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34841094	C	T	34841094	5	4	164	1	0	0	0	0	0	0	1	0	16206	608	21	4	401	4	TMEM50B	21	34841094	Splice_Site	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	19324093	34841094	13288801	703	31491										
DOPEY2	9980	genome.wustl.edu	37	chr21	37605362	37605362	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aagtcattgcagagaaaacaGatttctatcaggtatttccc	7	8	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:37605362G>A	ENST00000399151.3	+	15	2696	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	871					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGAGAAAACAGATTTCTATCA	0.493																																																	0													68	64	65					21																	37605362		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2611G>A	21.37:g.37605362G>A	ENSP00000382104:p.Asp871Asn		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.D871N	ENST00000399151.3	37	c.2611	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831097	0.71258	.	.	ENSG00000142197	ENST00000399151	T	0.66280	-0.2	5.98	5.1	0.69264	.	0.044927	0.85682	N	0.000000	T	0.75170	0.3813	M	0.67953	2.075	0.58432	D	0.999991	D;D	0.76494	0.999;0.999	D;P	0.68353	0.957;0.907	T	0.72981	-0.4126	10	0.24483	T	0.36	3.1038	15.3908	0.74741	0.0665:0.0:0.9335:0.0	.	871;871	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	871	ENSP00000382104:D871N	ENSP00000382104:D871N	D	+	1	0	DOPEY2	36527232	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.217000	0.72218	1.538000	0.49270	-0.157000	0.13467	GAT	DOPEY2	-	NULL		0.493	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37605362	1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37605362	G	A	37605362	3	1	164	1	0	0	0	0	1	0	0	0	4718	942	33	1	2665	1	DOPEY2	21	37605362	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2764268	37605362	10524533	704	31492										
DSCR6	53820	genome.wustl.edu	37	chr21	38390286	38390286	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctacgacgatgagtctactGagtctgcttccgaagctgaa	10	10	3	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:38390286G>A	ENST00000329553.2	+	4	562	c.352G>A	c.(352-354)Gag>Aag	p.E118K	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	118					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											TGAGTCTACTGAGTCTGCTTC	0.572																																																	0													45	43	43					21																	38390286		2203	4300	6503	SO:0001583	missense	53820			AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.352G>A	21.37:g.38390286G>A	ENSP00000331734:p.Glu118Lys			Missense_Mutation	SNP	NULL	p.E118K	ENST00000329553.2	37	c.352	CCDS13648.1	21	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651072	0.29336	.	.	ENSG00000183145	ENST00000329553	.	.	.	0.88	0.88	0.19161	.	2.253410	0.02066	N	0.051158	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	P	0.40302	0.712	B	0.27500	0.08	T	0.19647	-1.0299	9	0.48119	T	0.1	.	5.0734	0.14618	0.0:0.0:1.0:0.0	.	118	P57055	DSCR6_HUMAN	K	118	.	ENSP00000331734:E118K	E	+	1	0	DSCR6	37312156	0.160000	0.22878	0.004000	0.12327	0.032000	0.12392	3.674000	0.54598	0.763000	0.33175	0.462000	0.41574	GAG	DSCR6	-	NULL		0.572	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR6	HGNC	protein_coding	OTTHUMT00000194703.1	G			38390286	1	no_errors	ENST00000329553	ensembl	human	known	70_37	missense	SNP	0.009	A	A	38390286	G	A	38390286	3	1	164	1	0	0	0	0	1	0	0	0	4783	1291	45	1	366	1	DSCR6	21	38390286	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	784924	38390286	9739609	705	31493										
BRWD1	54014	genome.wustl.edu	37	chr21	40608645	40608645	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcgtcgacgacatgatgttCttaaaggaggctgcaaattg	11	7	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:40608645C>G	ENST00000333229.2	-	23	2969	c.2642G>C	c.(2641-2643)aGa>aCa	p.R881T	BRWD1_ENST00000380800.3_Missense_Mutation_p.R881T|BRWD1_ENST00000342449.3_Missense_Mutation_p.R881T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	881					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACATGATGTTCTTAAAGGAGG	0.408																																					Melanoma(170;988 1986 4794 16843 39731)												0													114	108	110					21																	40608645		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2642G>C	21.37:g.40608645C>G	ENSP00000330753:p.Arg881Thr		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R881T	ENST00000333229.2	37	c.2642	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.01|16.01	3.001177|3.001177	0.54254|0.54254	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000455867|ENST00000333229;ENST00000342449;ENST00000380800	.|T;T;T	.|0.61980	.|0.06;0.06;0.06	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.78572|0.78572	0.4304|0.4304	M|M	0.82056|0.82056	2.57|2.57	0.09310|0.09310	N|N	1|1	.|D;P	.|0.76494	.|0.999;0.915	.|D;P	.|0.81914	.|0.995;0.468	T|T	0.72057|0.72057	-0.4405|-0.4405	5|10	.|0.72032	.|D	.|0.01	-6.0667|-6.0667	12.3543|12.3543	0.55165|0.55165	0.0:0.9227:0.0:0.0772|0.0:0.9227:0.0:0.0772	.|.	.|881;881	.|Q9NSI6-2;Q9NSI6	.|.;BRWD1_HUMAN	N|T	548|881	.|ENSP00000330753:R881T;ENSP00000344333:R881T;ENSP00000370178:R881T	.|ENSP00000330753:R881T	K|R	-|-	3|2	2|0	BRWD1|BRWD1	39530515|39530515	0.175000|0.175000	0.23083|0.23083	0.141000|0.141000	0.22245|0.22245	0.433000|0.433000	0.31745|0.31745	3.616000|3.616000	0.54174|0.54174	2.498000|2.498000	0.84270|0.84270	0.650000|0.650000	0.86243|0.86243	AAG|AGA	BRWD1	-	NULL		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40608645	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.015	G	G	40608645	C	G	40608645	3	3	164	1	0	0	0	0	1	0	0	0	1528	913	32	1	4639	1	BRWD1	21	40608645	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2218359	40608645	7521250	706	31494										
ZNF295	49854	genome.wustl.edu	37	chr21	43412056	43412056	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctggtaaacctccttgttttCtactggacttgcaagaggag	10	9	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:43412056C>G	ENST00000310826.5	-	3	2332	c.2149G>C	c.(2149-2151)Gaa>Caa	p.E717Q	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E717Q|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E717Q|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	717					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TCCTTGTTTTCTACTGGACTT	0.478																																																	0													153	178	169					21																	43412056		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2149G>C	21.37:g.43412056C>G	ENSP00000308759:p.Glu717Gln		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E717Q	ENST00000310826.5	37	c.2149	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	C	7.722	0.697381	0.15106	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.07567	3.18;3.18;3.18	5.38	4.48	0.54585	.	0.949026	0.08738	N	0.900965	T	0.09158	0.0226	L	0.34521	1.04	0.09310	N	1	B	0.26445	0.149	B	0.25884	0.064	T	0.39542	-0.9609	10	0.15066	T	0.55	-6.3121	15.8962	0.79336	0.0:0.8642:0.1358:0.0	.	717	Q9ULJ3	ZN295_HUMAN	Q	717	ENSP00000308759:E717Q;ENSP00000381512:E717Q;ENSP00000381523:E717Q	ENSP00000308759:E717Q	E	-	1	0	ZNF295	42285125	0.206000	0.23470	0.001000	0.08648	0.975000	0.68041	3.287000	0.51732	1.237000	0.43756	0.551000	0.68910	GAA	ZNF295	-	NULL		0.478	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	HGNC	protein_coding	OTTHUMT00000195308.1	C	NM_020727		43412056	-1	no_errors	ENST00000310826	ensembl	human	known	70_37	missense	SNP	0.063	G	G	43412056	C	G	43412056	3	3	164	1	0	0	0	0	1	0	0	0	17857	922	32	1	1055	1	ZNF295	21	43412056	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2803411	43412056	4717839	707	31495										
ZNF295	49854	genome.wustl.edu	37	chr21	43412124	43412124	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttactccaaggggtttttctCctggatgcatttttatatgc	8	8	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:43412124C>G	ENST00000310826.5	-	3	2264	c.2081G>C	c.(2080-2082)gGa>gCa	p.G694A	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.G694A|ZBTB21_ENST00000398499.1_Missense_Mutation_p.G694A|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	694					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GGGTTTTTCTCCTGGATGCAT	0.428																																																	0													122	144	137					21																	43412124		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2081G>C	21.37:g.43412124C>G	ENSP00000308759:p.Gly694Ala		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G694A	ENST00000310826.5	37	c.2081	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212597	0.39102	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.64438	-0.1;-0.1;-0.1	5.53	5.53	0.82687	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.151390	0.42821	D	0.000650	T	0.56187	0.1968	L	0.41236	1.265	0.44447	D	0.997378	P	0.43750	0.816	B	0.39185	0.293	T	0.56450	-0.7977	10	0.35671	T	0.21	-14.7549	19.466	0.94939	0.0:1.0:0.0:0.0	.	694	Q9ULJ3	ZN295_HUMAN	A	694	ENSP00000308759:G694A;ENSP00000381512:G694A;ENSP00000381523:G694A	ENSP00000308759:G694A	G	-	2	0	ZNF295	42285193	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	2.988000	0.49386	2.607000	0.88179	0.655000	0.94253	GGA	ZNF295	-	pfscan_Znf_C2H2		0.428	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	HGNC	protein_coding	OTTHUMT00000195308.1	C	NM_020727		43412124	-1	no_errors	ENST00000310826	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43412124	C	G	43412124	3	3	164	1	0	0	0	0	1	0	0	0	17857	855	30	1	1123	1	ZNF295	21	43412124	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	68	43412124	4717771	708	31496										
PDE9A	5152	genome.wustl.edu	37	chr21	44185528	44185528	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cttggccactgacatggcaaGacatgcagaaattatggatt	10	8	0	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:44185528G>T	ENST00000291539.6	+	15	1340	c.1280G>T	c.(1279-1281)aGa>aTa	p.R427I	PDE9A_ENST00000335440.6_Missense_Mutation_p.R325I|PDE9A_ENST00000398236.3_Missense_Mutation_p.R341I|PDE9A_ENST00000398234.3_Missense_Mutation_p.R326I|PDE9A_ENST00000398224.3_Missense_Mutation_p.R300I|PDE9A_ENST00000539837.1_Missense_Mutation_p.R299I|PDE9A_ENST00000398227.3_Missense_Mutation_p.R267I|PDE9A_ENST00000398232.3_Missense_Mutation_p.R360I|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000380328.2_Missense_Mutation_p.R374I|PDE9A_ENST00000335512.4_Missense_Mutation_p.R367I|PDE9A_ENST00000349112.3_Missense_Mutation_p.R299I|PDE9A_ENST00000398229.3_Missense_Mutation_p.R293I|PDE9A_ENST00000328862.6_Missense_Mutation_p.R401I|PDE9A_ENST00000398225.3_Missense_Mutation_p.R386I	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	427	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GACATGGCAAGACATGCAGAA	0.438																																																	0													86	78	81					21																	44185528		2203	4300	6503	SO:0001583	missense	5152			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1280G>T	21.37:g.44185528G>T	ENSP00000291539:p.Arg427Ile		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R427I	ENST00000291539.6	37	c.1280	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490141	0.64074	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	3.91	3.91	0.45181	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.157696	0.52532	D	0.000062	T	0.75110	0.3805	L	0.57130	1.785	0.80722	D	1	B;P;B;B;B;P;B;B;B;B;B;B;P;B;B;B	0.37122	0.156;0.55;0.156;0.079;0.133;0.583;0.149;0.079;0.036;0.079;0.156;0.247;0.583;0.379;0.156;0.263	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36418	0.067;0.181;0.106;0.067;0.13;0.164;0.101;0.079;0.023;0.05;0.067;0.106;0.224;0.106;0.067;0.126	T	0.80688	-0.1271	10	0.87932	D	0	.	16.4567	0.84019	0.0:0.0:1.0:0.0	.	299;360;341;326;401;386;319;367;210;267;293;299;325;374;300;427	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	I	367;299;427;374;360;326;341;401;325;386;293;267;299;300	ENSP00000335242:R367I;ENSP00000441899:R299I;ENSP00000291539:R427I;ENSP00000369685:R374I;ENSP00000381287:R360I;ENSP00000381289:R326I;ENSP00000381291:R341I;ENSP00000328699:R401I;ENSP00000335365:R325I;ENSP00000381281:R386I;ENSP00000381285:R293I;ENSP00000381283:R267I;ENSP00000344730:R299I;ENSP00000381280:R300I	ENSP00000291539:R427I	R	+	2	0	PDE9A	43058597	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	8.934000	0.92915	2.179000	0.69175	0.501000	0.49751	AGA	PDE9A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.438	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	G			44185528	1	no_errors	ENST00000291539	ensembl	human	known	70_37	missense	SNP	0.983	T	T	44185528	G	T	44185528	3	4	164	1	0	0	0	0	1	0	0	0	11679	942	33	3	1418	3	PDE9A	21	44185528	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	773404	44185528	3944367	709	31497										
CRYAA	1409	genome.wustl.edu	37	chr21	44590668	44590668	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcgtcatcttcctcgatgtGaagcacttctccccggagga	9	13	3	1	rs146497353		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:44590668G>A	ENST00000291554.2	+	2	323	c.231G>A	c.(229-231)gtG>gtA	p.V77V	CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398132.1_Silent_p.V40V|CRYAA_ENST00000398133.1_Silent_p.V57V	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	77					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCCTCGATGTGAAGCACTTCT	0.597																																																	0								G		0,4406		0,0,2203	150	108	122		231	2.8	1	21	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CRYAA	NM_000394.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		77/174	44590668	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1409				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"Heat shock proteins / HSPB"	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.231G>A	21.37:g.44590668G>A			Q53X53	Silent	SNP	pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.V77	ENST00000291554.2	37	c.231	CCDS13695.1	21																																																																																			CRYAA	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP		0.597	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYAA	HGNC	protein_coding	OTTHUMT00000195562.1	G			44590668	1	no_errors	ENST00000291554	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44590668	G	A	44590668	2	1	164	1	0	0	0	0	0	0	0	1	3910	1277	45	1		1	CRYAA	21	44590668	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	405140	44590668	3539227	710	31498										
TRPM2	7226	genome.wustl.edu	37	chr21	45815323	45815323	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggagtgagcctccggtccctCtacaagcgttcctcaggcca	11	15	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:45815323C>T	ENST00000397928.1	+	12	2266	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.L607L|TRPM2_ENST00000397932.2_Silent_p.L607L|TRPM2_ENST00000300481.9_Silent_p.L587L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	607					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCGGTCCCTCTACAAGCGTT	0.617																																																	0													115	101	106					21																	45815323		2203	4299	6502	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1821C>T	21.37:g.45815323C>T			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.L607	ENST00000397928.1	37	c.1821	CCDS13710.1	21																																																																																			TRPM2	-	NULL		0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	C	NM_003307		45815323	1	no_errors	ENST00000300482	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45815323	C	T	45815323	2	4	164	1	0	0	0	0	0	0	0	1	16617	900	32	1		1	TRPM2	21	45815323	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1224655	45815323	2314572	711	31499										
KRTAP10-8	386681	genome.wustl.edu	37	chr21	46032136	46032136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagcacctgcactggctcctCctggcaggtggacaattgcc	11	15	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:46032136C>T	ENST00000334662.2	+	1	141	c.119C>T	c.(118-120)tCc>tTc	p.S40F	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	40	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACTGGCTCCTCCTGGCAGGTG	0.642																																																	0													83	75	78					21																	46032136		2203	4300	6503	SO:0001583	missense	386681			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.119C>T	21.37:g.46032136C>T	ENSP00000335565:p.Ser40Phe		A0JNW4	Missense_Mutation	SNP	pfam_PMG	p.S40F	ENST00000334662.2	37	c.119	CCDS13713.1	21	.	.	.	.	.	.	.	.	.	.	c	12.07	1.826334	0.32329	.	.	ENSG00000187766	ENST00000334662	T	0.16743	2.32	3.46	3.46	0.39613	.	.	.	.	.	T	0.44644	0.1303	M	0.87682	2.9	0.33537	D	0.59438	D	0.76494	0.999	D	0.87578	0.998	T	0.62520	-0.6837	9	0.72032	D	0.01	.	10.7826	0.46386	0.0:1.0:0.0:0.0	.	40	P60410	KR108_HUMAN	F	40	ENSP00000335565:S40F	ENSP00000335565:S40F	S	+	2	0	KRTAP10-8	44856564	0.589000	0.26807	0.985000	0.45067	0.043000	0.13939	1.233000	0.32648	1.652000	0.50683	0.467000	0.42956	TCC	KRTAP10-8	-	pfam_PMG		0.642	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-8	HGNC	protein_coding	OTTHUMT00000128035.1	C	NM_198695		46032136	1	no_errors	ENST00000334662	ensembl	human	known	70_37	missense	SNP	0.999	T	T	46032136	C	T	46032136	3	4	164	1	0	0	0	0	1	0	0	0	8535	855	30	1	121	1	KRTAP10-8	21	46032136	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	216813	46032136	2097759	712	31500										
POTEH	23784	genome.wustl.edu	37	chr22	16287817	16287817	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggcggcaccacttgcccatCttgcttctgagaccaaatgg	10	13	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:16287817C>T	ENST00000343518.6	-	1	120	c.69G>A	c.(67-69)aaG>aaA	p.K23K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	23										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACTTGCCCATCTTGCTTCTGA	0.577																																																	0													63	79	74					22																	16287817		1938	3705	5643	SO:0001819	synonymous_variant	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.69G>A	22.37:g.16287817C>T			A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K23	ENST00000343518.6	37	c.69	CCDS46658.1	22																																																																																			POTEH	-	NULL		0.577	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	C	NM_001136213		16287817	-1	no_errors	ENST00000343518	ensembl	human	known	70_37	silent	SNP	0.014	T	T	16287817	C	T	16287817	2	4	164	1	0	0	0	0	0	0	0	1	12291	912	32	1		1	POTEH	22	16287817	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09		16287817	35016749	713	31501										
PI4KA	5297	genome.wustl.edu	37	chr22	21075635	21075635	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	taaatgttagtcttcatgttCcagatgaactggtgtgccag	10	7	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:21075635C>T	ENST00000572273.1	-	43	5123	c.4893G>A	c.(4891-4893)tgG>tgA	p.W1631*	PI4KA_ENST00000255882.6_Nonsense_Mutation_p.W1689*|PI4KA_ENST00000414196.3_Nonsense_Mutation_p.W441*|AC007308.6_ENST00000430719.1_RNA			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1631	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTTCATGTTCCAGATGAACT	0.507																																					GBM(136;1332 1831 3115 23601 50806)												0													147	131	136					22																	21075635		2203	4300	6503	SO:0001587	stop_gained	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4893G>A	22.37:g.21075635C>T	ENSP00000458238:p.Trp1631*		Q7Z625|Q9UPG2	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.W1689*	ENST00000572273.1	37	c.5067		22	.	.	.	.	.	.	.	.	.	.	C	41	8.587793	0.98875	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.76	18.5538	0.91075	0.0:1.0:0.0:0.0	.	.	.	.	X	1631;441;24	.	ENSP00000255882:W1631X	W	-	3	0	PI4KA	19405635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.627000	0.83176	2.389000	0.81357	0.591000	0.81541	TGG	PI4KA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.507	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		C	NM_058004		21075635	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	21075635	C	T	21075635	4	4	164	1	0	0	0	0	0	1	0	0	11897	856	30	1	1293	1	PI4KA	22	21075635	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	4787818	21075635	30228931	714	31502										
THAP7	80764	genome.wustl.edu	37	chr22	21354707	21354707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aaaatggagttgtgggccctCggccctcggagcagctggta	15	10	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:21354707C>T	ENST00000215742.4	-	4	566	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R131Q	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	131					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTGGGCCCTCGGCCCTCGGA	0.622																																																	0													8	11	10					22																	21354707		2073	4064	6137	SO:0001583	missense	80764			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.392G>A	22.37:g.21354707C>T	ENSP00000215742:p.Arg131Gln		B2RD97|D3DX40	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R131Q	ENST00000215742.4	37	c.392	CCDS13787.1	22	.	.	.	.	.	.	.	.	.	.	C	9.518	1.107543	0.20714	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96073	-3.9;-3.9	4.24	0.645	0.17782	.	1.831780	0.02984	N	0.145994	D	0.86075	0.5846	N	0.03608	-0.345	0.22112	N	0.999353	B	0.02656	0.0	B	0.01281	0.0	T	0.80331	-0.1427	10	0.11485	T	0.65	-19.9049	4.7219	0.12922	0.1734:0.6114:0.0:0.2152	.	131	Q9BT49	THAP7_HUMAN	Q	131	ENSP00000215742:R131Q;ENSP00000382084:R131Q	ENSP00000215742:R131Q	R	-	2	0	THAP7	19684707	0.000000	0.05858	0.987000	0.45799	0.735000	0.41995	-0.444000	0.06854	0.498000	0.27948	0.491000	0.48974	CGA	THAP7	-	NULL		0.622	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	HGNC	protein_coding	OTTHUMT00000320405.1	C	NM_030573		21354707	-1	no_errors	ENST00000215742	ensembl	human	known	70_37	missense	SNP	0.827	T	T	21354707	C	T	21354707	3	4	164	1	0	0	0	0	1	0	0	0	15879	884	31	1	541	1	THAP7	22	21354707	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	279072	21354707	29949859	715	31503										
KREMEN1	83999	genome.wustl.edu	37	chr22	29536304	29536304	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggtctggcaactctcctcatCctcacagtcacagccattgt	7	15	5	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:29536304C>T	ENST00000407188.1	+	8	1203	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	KREMEN1_ENST00000327813.5_Silent_p.I403I|KREMEN1_ENST00000400338.2_Silent_p.I403I|KREMEN1_ENST00000400335.4_Silent_p.I386I			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	401					cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CTCTCCTCATCCTCACAGTCA	0.488																																																	0													135	133	133					22																	29536304		1998	4173	6171	SO:0001819	synonymous_variant	83999			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.1203C>T	22.37:g.29536304C>T			B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Silent	SNP	pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pirsf_Kremen,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd	p.I403	ENST00000407188.1	37	c.1209	CCDS43000.2	22																																																																																			KREMEN1	-	pirsf_Kremen		0.488	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	C			29536304	1	no_errors	ENST00000327813	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29536304	C	T	29536304	2	4	164	1	0	0	0	0	0	0	0	1	8462	845	30	1		1	KREMEN1	22	29536304	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	8181597	29536304	21768262	716	31504										
HMGXB4	10042	genome.wustl.edu	37	chr22	35659852	35659852	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agaggaagcactcctctgatGattactactatggaggtgag	12	7	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:35659852G>A	ENST00000216106.5	+	4	372	c.244G>A	c.(244-246)Gat>Aat	p.D82N	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	82					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCCTCTGATGATTACTACTA	0.443																																																	0													127	109	115					22																	35659852		2203	4300	6503	SO:0001583	missense	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.244G>A	22.37:g.35659852G>A	ENSP00000216106:p.Asp82Asn		O75672|O75673|Q9UMT5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D82N	ENST00000216106.5	37	c.244	CCDS33641.1	22	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382628	0.61845	.	.	ENSG00000100281	ENST00000216106	T	0.20069	2.1	6.02	6.02	0.97574	.	0.215835	0.46758	D	0.000277	T	0.31796	0.0808	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.04537	-1.0944	10	0.87932	D	0	-19.0199	19.5352	0.95251	0.0:0.0:1.0:0.0	.	82	Q9UGU5	HMGX4_HUMAN	N	82	ENSP00000216106:D82N	ENSP00000216106:D82N	D	+	1	0	HMGXB4	33989852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.712000	0.74681	2.850000	0.98022	0.650000	0.86243	GAT	HMGXB4	-	NULL		0.443	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	G	NM_005487		35659852	1	no_errors	ENST00000216106	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35659852	G	A	35659852	3	1	164	1	0	0	0	0	1	0	0	0	7259	1290	45	1	254	1	HMGXB4	22	35659852	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6123548	35659852	15644714	717	31505										
MYH9	4627	genome.wustl.edu	37	chr22	36717842	36717842	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	aacaatgtagccattgacatCaaagttgatgcgaatgaatt	8	6	1	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:36717842C>T	ENST00000216181.5	-	7	960	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	244	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCATTGACATCAAAGTTGATG	0.502			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													133	118	123					22																	36717842		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.730G>A	22.37:g.36717842C>T	ENSP00000216181:p.Asp244Asn		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D244N	ENST00000216181.5	37	c.730	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.348316	0.95807	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72835	-0.69	5.22	5.22	0.72569	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	M	0.64997	1.995	0.80722	D	1	P	0.44090	0.826	P	0.57960	0.83	T	0.82202	-0.0574	10	0.66056	D	0.02	.	17.914	0.88943	0.0:1.0:0.0:0.0	.	244	P35579	MYH9_HUMAN	N	108;244	ENSP00000216181:D244N	ENSP00000216181:D244N	D	-	1	0	MYH9	35047788	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.818000	0.86416	2.586000	0.87340	0.561000	0.74099	GAT	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.502	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36717842	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36717842	C	T	36717842	3	4	164	1	0	0	0	0	1	0	0	0	10065	826	29	1	5292	1	MYH9	22	36717842	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1057990	36717842	14586724	718	31506										
CARD10	29775	genome.wustl.edu	37	chr22	37891921	37891921	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcatggggatctgccctctCaggcaaggtgaggttggcac	16	10	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:37891921C>T	ENST00000403299.1	-	15	2365	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	CARD10_ENST00000406271.3_Missense_Mutation_p.E431K|CARD10_ENST00000251973.5_Missense_Mutation_p.E717K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	717					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TCTGCCCTCTCAGGCAAGGTG	0.607																																																	0													75	64	68					22																	37891921		2203	4300	6503	SO:0001583	missense	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2149G>A	22.37:g.37891921C>T	ENSP00000384570:p.Glu717Lys		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.E717K	ENST00000403299.1	37	c.2149	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423716	0.62733	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.42900	0.96;2.63;0.96;1.41	4.98	4.98	0.66077	.	0.135447	0.52532	D	0.000073	T	0.31451	0.0797	L	0.33485	1.01	0.32720	N	0.510488	P;B	0.35745	0.518;0.2	B;B	0.26770	0.072;0.073	T	0.48885	-0.8995	10	0.48119	T	0.1	-31.7725	16.4258	0.83814	0.0:1.0:0.0:0.0	.	717;431	Q9BWT7;Q8NC81	CAR10_HUMAN;.	K	717;431;717;358;189	ENSP00000384570:E717K;ENSP00000385799:E431K;ENSP00000251973:E717K;ENSP00000416239:E358K	ENSP00000251973:E717K	E	-	1	0	CARD10	36221867	0.997000	0.39634	0.957000	0.39632	0.920000	0.55202	3.828000	0.55753	2.289000	0.77006	0.561000	0.74099	GAG	CARD10	-	NULL		0.607	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	C	NM_014550		37891921	-1	no_errors	ENST00000251973	ensembl	human	known	70_37	missense	SNP	0.992	T	T	37891921	C	T	37891921	3	4	164	1	0	0	0	0	1	0	0	0	2649	835	29	1	977	1	CARD10	22	37891921	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1174079	37891921	13412645	719	31507										
EP300	2033	genome.wustl.edu	37	chr22	41523536	41523536	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcagccaggcctggtgactCcagttgcccaagggatgggt	15	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:41523536C>G	ENST00000263253.7	+	4	2171	c.952C>G	c.(952-954)Cca>Gca	p.P318A		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	318					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTGGTGACTCCAGTTGCCCA	0.498			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													78	82	81					22																	41523536		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.952C>G	22.37:g.41523536C>G	ENSP00000263253:p.Pro318Ala		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P318A	ENST00000263253.7	37	c.952	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547091	0.27652	.	.	ENSG00000100393	ENST00000263253	D	0.82711	-1.64	6.02	3.73	0.42828	.	0.285984	0.24674	N	0.036531	T	0.65491	0.2696	L	0.29908	0.895	0.35082	D	0.763547	B	0.17852	0.024	B	0.21546	0.035	T	0.58645	-0.7600	10	0.06365	T	0.9	-0.2844	3.1114	0.06360	0.2411:0.415:0.2577:0.0861	.	318	Q09472	EP300_HUMAN	A	318	ENSP00000263253:P318A	ENSP00000263253:P318A	P	+	1	0	EP300	39853482	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	1.306000	0.33505	2.857000	0.98124	0.650000	0.86243	CCA	EP300	-	NULL		0.498	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41523536	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	0.979	G	G	41523536	C	G	41523536	3	3	164	1	0	0	0	0	1	0	0	0	5160	855	30	1	966	1	EP300	22	41523536	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3631615	41523536	9781030	720	31508										
EP300	2033	genome.wustl.edu	37	chr22	41543930	41543930	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agcaccatggacagttggctCaacctggagctctcaacccg	10	14	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:41543930C>T	ENST00000263253.7	+	12	3440	c.2221C>T	c.(2221-2223)Caa>Taa	p.Q741*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	741					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACAGTTGGCTCAACCTGGAGC	0.463			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													115	106	109					22																	41543930		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2221C>T	22.37:g.41543930C>T	ENSP00000263253:p.Gln741*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q741*	ENST00000263253.7	37	c.2221	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	50	16.080638	0.99854	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.96	5.96	0.96718	.	0.152963	0.29980	N	0.010711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-6.3956	20.4116	0.99017	0.0:1.0:0.0:0.0	.	.	.	.	X	741	.	ENSP00000263253:Q741X	Q	+	1	0	EP300	39873876	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	5.299000	0.65716	2.827000	0.97445	0.655000	0.94253	CAA	EP300	-	NULL		0.463	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41543930	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	0.990	T	T	41543930	C	T	41543930	4	4	164	1	0	0	0	0	0	1	0	0	5160	827	29	1	2267	1	EP300	22	41543930	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	20394	41543930	9760636	721	31509										
EP300	2033	genome.wustl.edu	37	chr22	41574469	41574469	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttccccaggccttgggagcaGaggcaggtgccagtctacag	14	12	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:41574469G>T	ENST00000263253.7	+	31	7973	c.6754G>T	c.(6754-6756)Gag>Tag	p.E2252*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2252					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTTGGGAGCAGAGGCAGGTGC	0.582			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													77	83	81					22																	41574469		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6754G>T	22.37:g.41574469G>T	ENSP00000263253:p.Glu2252*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.E2252*	ENST00000263253.7	37	c.6754	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	53	20.125588	0.99927	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.5	5.5	0.81552	.	0.301644	0.23317	N	0.049500	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-11.9846	19.3945	0.94601	0.0:0.0:1.0:0.0	.	.	.	.	X	2252	.	ENSP00000263253:E2252X	E	+	1	0	EP300	39904415	1.000000	0.71417	0.799000	0.32177	0.990000	0.78478	6.312000	0.72840	2.581000	0.87130	0.655000	0.94253	GAG	EP300	-	NULL		0.582	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41574469	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	0.834	T	T	41574469	G	T	41574469	4	4	164	1	0	0	0	0	0	1	0	0	5160	943	33	3	6876	3	EP300	22	41574469	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	30539	41574469	9730097	722	31510										
WBP2NL	164684	genome.wustl.edu	37	chr22	42423091	42423091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atacagagcctcacctgctgGatcaggagccaggcctcagg	12	13	3	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:42423091G>A	ENST00000328823.9	+	6	867	c.836G>A	c.(835-837)gGa>gAa	p.G279E	WBP2NL_ENST00000543212.1_Missense_Mutation_p.G205E	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	279	Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TCACCTGCTGGATCAGGAGCC	0.587																																																	0													80	93	89					22																	42423091		2203	4300	6503	SO:0001583	missense	164684			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"postacrosomal sheath WW domain-binding protein"	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.836G>A	22.37:g.42423091G>A	ENSP00000332983:p.Gly279Glu		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	pfam_WW-domain-binding,pfam_GRAM	p.G279E	ENST00000328823.9	37	c.836	CCDS14029.1	22	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880991	0.51801	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.23147	2.24;1.92	3.93	-4.27	0.03744	.	.	.	.	.	T	0.12220	0.0297	L	0.27053	0.805	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.30679	-0.9970	9	0.27082	T	0.32	.	1.6673	0.02805	0.4441:0.1381:0.2773:0.1406	.	279	Q6ICG8	WBP2L_HUMAN	E	279;205	ENSP00000332983:G279E;ENSP00000442447:G205E	ENSP00000332983:G279E	G	+	2	0	WBP2NL	40753037	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.027000	0.12371	-0.839000	0.04212	-0.482000	0.04802	GGA	WBP2NL	-	NULL		0.587	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2NL	HGNC	protein_coding	OTTHUMT00000322037.1	G	NM_152613		42423091	1	no_errors	ENST00000328823	ensembl	human	known	70_37	missense	SNP	0.000	A	A	42423091	G	A	42423091	3	1	164	1	0	0	0	0	1	0	0	0	17291	1174	41	1	858	1	WBP2NL	22	42423091	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	848622	42423091	8881475	723	31511										
SMC1B	27127	genome.wustl.edu	37	chr22	45802438	45802438	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cttcggctttttgtaactttCttttcttttcttcatattct	3	9	5	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:45802438C>G	ENST00000357450.4	-	4	517	c.518G>C	c.(517-519)aGa>aCa	p.R173T	SMC1B_ENST00000404354.3_Missense_Mutation_p.R173T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	173					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGTAACTTTCTTTTCTTTTC	0.368																																																	0													85	78	80					22																	45802438		1809	4072	5881	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.518G>C	22.37:g.45802438C>G	ENSP00000350036:p.Arg173Thr		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.R173T	ENST00000357450.4	37	c.518	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637863	0.29157	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79554	-1.28;3.25	5.74	3.2	0.36748	.	0.271683	0.31461	N	0.007614	T	0.51890	0.1701	N	0.01874	-0.695	0.28431	N	0.91727	B;B	0.10296	0.003;0.001	B;B	0.19666	0.026;0.004	T	0.41980	-0.9478	10	0.16420	T	0.52	.	6.301	0.21113	0.0:0.2487:0.0:0.7513	.	173;173	Q8NDV3-2;Q8NDV3-3	.;.	T	173	ENSP00000350036:R173T;ENSP00000385902:R173T	ENSP00000350036:R173T	R	-	2	0	SMC1B	44181102	0.967000	0.33354	1.000000	0.80357	0.927000	0.56198	1.093000	0.30939	0.450000	0.26774	0.561000	0.74099	AGA	SMC1B	-	pfam_RecF/RecN/SMC		0.368	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	C	NM_148674		45802438	-1	no_errors	ENST00000357450	ensembl	human	known	70_37	missense	SNP	0.998	G	G	45802438	C	G	45802438	3	3	164	1	0	0	0	0	1	0	0	0	14812	913	32	1	3277	1	SMC1B	22	45802438	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3379347	45802438	5502128	724	31512										
SCO2	9997	genome.wustl.edu	37	chr22	50962089	50962089	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgtgccgccgcacactgtctGagatctgctcagccgatctg	11	14	4	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:50962089G>T	ENST00000543927.1	-	2	958	c.752C>A	c.(751-753)tCa>tAa	p.S251*	SCO2_ENST00000252785.3_Nonsense_Mutation_p.S251*|SCO2_ENST00000395693.3_Nonsense_Mutation_p.S251*|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Nonsense_Mutation_p.S251*	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	251	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACACTGTCTGAGATCTGCTC	0.577																																																	0													92	86	88					22																	50962089		2203	4300	6503	SO:0001587	stop_gained	9997			AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"Mitochondrial respiratory chain complex assembly factors"	10604	protein-coding gene	gene with protein product		604272	"SCO (cytochrome oxidase deficient, yeast) homolog 2", "SCO cytochrome oxidase deficient homolog 2 (yeast)", "myopia 6"	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.752C>A	22.37:g.50962089G>T	ENSP00000444433:p.Ser251*		Q3T1B5|Q9UK87	Nonsense_Mutation	SNP	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.S251*	ENST00000543927.1	37	c.752	CCDS14095.1	22	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004817	0.35320	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785	.	.	.	5.09	1.85	0.25348	.	0.662303	0.12586	N	0.456031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	0.0032	8.9687	0.35892	0.2491:0.0:0.7509:0.0	.	.	.	.	X	251	.	ENSP00000252785:S251X	S	-	2	0	SCO2	49308955	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.534000	0.36051	0.267000	0.21916	-0.150000	0.13652	TCA	SCO2	-	superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.577	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO2	HGNC	protein_coding	OTTHUMT00000317091.1	G	NM_005138		50962089	-1	no_errors	ENST00000252785	ensembl	human	known	70_37	nonsense	SNP	0.009	T	T	50962089	G	T	50962089	4	4	164	1	0	0	0	0	0	1	0	0	13962	1294	45	3	52	3	SCO2	22	50962089	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	5159651	50962089	342477	725	31513										
SLC25A6	293	genome.wustl.edu	37	chrX	1508375	1508375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtcgcgccggccgcaccgccGgaggccaggttgcccgcaaa	15	17	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:1508375G>A	ENST00000381401.5	-	2	1071	c.357C>T	c.(355-357)tcC>tcT	p.S119S	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	119					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCGCACCGCCGGAGGCCAGGT	0.637																																																	0								A		1,4405		0,1,2202	141	148	146		357	-3.7	0.1	X	dbSNP_134	146	0,8592		0,0,4296	no	coding-synonymous	SLC25A6	NM_001636.3		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		119/299	1508375	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	293			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.357C>T	X.37:g.1508375G>A			Q96C49	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.S119	ENST00000381401.5	37	c.357	CCDS14114.1	X																																																																																			SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor		0.637	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	G	NM_001636		1508375	-1	no_errors	ENST00000381401	ensembl	human	known	70_37	silent	SNP	0.689	A	A	1508375	G	A	1508375	2	1	164	1	0	0	0	0	0	0	0	1	14543	1103	39	2		2	SLC25A6	23	1508375	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09		1508375	153762185	726	31514										
MXRA5	25878	genome.wustl.edu	37	chrX	3228085	3228085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcacggggatgctggtgaccGaagggccgtactccgtctcc	14	13	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:3228085G>A	ENST00000217939.6	-	7	8313	c.8159C>T	c.(8158-8160)tCg>tTg	p.S2720L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2720	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGTGACCGAAGGGCCGTA	0.607													G|||	1	0.000264901	0	0	3775	,	,		13098	0		0.001	False		,,,				2504	0																0													48	42	44					X																	3228085		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8159C>T	X.37:g.3228085G>A	ENSP00000217939:p.Ser2720Leu		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S2720L	ENST00000217939.6	37	c.8159	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595340	0.28445	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.12672	2.66	4.32	1.52	0.23074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.638466	0.12916	N	0.428555	T	0.31199	0.0789	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.08046	-1.0741	10	0.51188	T	0.08	.	7.131	0.25502	0.1596:0.1373:0.703:0.0	.	2720	Q9NR99	MXRA5_HUMAN	L	2720	ENSP00000217939:S2720L	ENSP00000217939:S2720L	S	-	2	0	MXRA5	3238085	0.989000	0.36119	0.000000	0.03702	0.037000	0.13140	3.949000	0.56668	-0.074000	0.12820	-1.237000	0.01550	TCG	MXRA5	-	smart_Ig_sub,pfscan_Ig-like		0.607	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3228085	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.007	A	A	3228085	G	A	3228085	3	1	164	1	0	0	0	0	1	0	0	0	10026	1059	37	1	331	1	MXRA5	23	3228085	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1719710	3228085	152042475	727	31515										
GEMIN8	54960	genome.wustl.edu	37	chrX	14027161	14027161	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tccccgtacaaacgcttcatCtcggcctggcgccgctcacc	8	19	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:14027161C>T	ENST00000380523.4	-	5	918	c.600G>A	c.(598-600)gaG>gaA	p.E200E	GEMIN8_ENST00000398355.3_Silent_p.E200E	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	200					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						AACGCTTCATCTCGGCCTGGC	0.612																																																	0													81	75	77					X																	14027161		2203	4300	6503	SO:0001819	synonymous_variant	54960			BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"family with sequence similarity 51, member A1"	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.600G>A	X.37:g.14027161C>T			C4AMC4|Q2LJ66|Q6ZV27	Silent	SNP	NULL	p.E200	ENST00000380523.4	37	c.600	CCDS14159.1	X																																																																																			GEMIN8	-	NULL		0.612	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN8	HGNC	protein_coding	OTTHUMT00000055815.1	C	NM_017856		14027161	-1	no_errors	ENST00000380523	ensembl	human	known	70_37	silent	SNP	1.000	T	T	14027161	C	T	14027161	2	4	164	1	0	0	0	0	0	0	0	1	6353	912	32	1		1	GEMIN8	23	14027161	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	10799076	14027161	141243399	728	31516										
CTPS2	56474	genome.wustl.edu	37	chrX	16720991	16720991	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgatccctttaccaatgcctGagatgaccccacccgtgacc	7	16	0	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:16720991G>T	ENST00000443824.1	-	2	778	c.35C>A	c.(34-36)tCa>tAa	p.S12*	CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*|CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	12					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACCAATGCCTGAGATGACCCC	0.438																																																	0													146	123	131					X																	16720991		2203	4300	6503	SO:0001587	stop_gained	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.35C>A	X.37:g.16720991G>T	ENSP00000401264:p.Ser12*		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Nonsense_Mutation	SNP	pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase	p.S12*	ENST00000443824.1	37	c.35	CCDS14175.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.259937	0.97421	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	.	.	.	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3459	18.6316	0.91361	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000352222:S12X	S	-	2	0	CTPS2	16630912	1.000000	0.71417	0.681000	0.30009	0.020000	0.10135	9.395000	0.97266	2.342000	0.79632	0.525000	0.51046	TCA	CTPS2	-	pfam_CTP_synthase_N,tigrfam_CTP_synthase		0.438	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS2	HGNC	protein_coding	OTTHUMT00000055906.1	G	NM_019857		16720991	-1	no_errors	ENST00000359276	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	16720991	G	T	16720991	4	4	164	1	0	0	0	0	0	1	0	0	4028	1294	45	3	1793	3	CTPS2	23	16720991	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2693830	16720991	138549569	729	31517										
REPS2	9185	genome.wustl.edu	37	chrX	17092270	17092270	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttccaacagtctcaaagcaaGaccaagatccaggtagtgtt	8	10	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:17092270G>A	ENST00000357277.3	+	12	1538	c.1367G>A	c.(1366-1368)aGa>aAa	p.R456K	REPS2_ENST00000380064.4_Intron|REPS2_ENST00000303843.7_Missense_Mutation_p.R455K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	456					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTCAAAGCAAGACCAAGATCC	0.433																																																	0													224	181	196					X																	17092270		2203	4300	6503	SO:0001583	missense	9185			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1367G>A	X.37:g.17092270G>A	ENSP00000349824:p.Arg456Lys		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.R456K	ENST00000357277.3	37	c.1367	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947718	0.53186	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843	T;T	0.32023	1.47;1.47	5.39	4.53	0.55603	.	0.153934	0.43416	D	0.000579	T	0.36826	0.0981	M	0.72118	2.19	0.80722	D	1	P;P	0.51351	0.663;0.944	B;P	0.49085	0.285;0.6	T	0.39057	-0.9632	10	0.05833	T	0.94	-11.8604	13.1505	0.59486	0.0806:0.0:0.9194:0.0	.	455;456	Q8NFH8-4;Q8NFH8	.;REPS2_HUMAN	K	456;456;455	ENSP00000349824:R456K;ENSP00000306033:R455K	ENSP00000306033:R455K	R	+	2	0	REPS2	17002191	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.043000	0.71004	1.043000	0.40175	0.600000	0.82982	AGA	REPS2	-	NULL		0.433	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	HGNC	protein_coding	OTTHUMT00000316778.1	G	NM_004726		17092270	1	no_errors	ENST00000357277	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17092270	G	A	17092270	3	1	164	1	0	0	0	0	1	0	0	0	13259	942	33	1	1413	1	REPS2	23	17092270	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	371279	17092270	138178290	730	31518										
SH3KBP1	30011	genome.wustl.edu	37	chrX	19626095	19626095	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tccggtggaagtaacttcacGaagttatcggggaacacgcc	12	10	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:19626095G>A	ENST00000397821.3	-	9	1256	c.966C>T	c.(964-966)ttC>ttT	p.F322F	SH3KBP1_ENST00000541422.1_Silent_p.F61F|SH3KBP1_ENST00000379698.4_Silent_p.F285F|SH3KBP1_ENST00000379697.3_Silent_p.F366F|SH3KBP1_ENST00000379716.1_Silent_p.F84F|SH3KBP1_ENST00000477102.1_5'UTR	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	322	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTAACTTCACGAAGTTATCGG	0.512																																																	0													90	75	80					X																	19626095		2203	4300	6503	SO:0001819	synonymous_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.966C>T	X.37:g.19626095G>A			B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.F322	ENST00000397821.3	37	c.966	CCDS14193.1	X																																																																																			SH3KBP1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3		0.512	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	G	NM_031892		19626095	-1	no_errors	ENST00000397821	ensembl	human	known	70_37	silent	SNP	0.989	A	A	19626095	G	A	19626095	2	1	164	1	0	0	0	0	0	0	0	1	14285	1049	37	1		1	SH3KBP1	23	19626095	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2533825	19626095	135644465	731	31519										
CNKSR2	22866	genome.wustl.edu	37	chrX	21670430	21670430	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctttttcttttcaggccagaGaaggggaagtagccattatc	10	8	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:21670430G>C	ENST00000379510.3	+	22	2932	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	CNKSR2_ENST00000425654.2_Missense_Mutation_p.E936Q	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	966					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCAGGCCAGAGAAGGGGAAGT	0.358																																																	0													78	67	71					X																	21670430		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2896G>C	X.37:g.21670430G>C	ENSP00000368824:p.Glu966Gln		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.E966Q	ENST00000379510.3	37	c.2896	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610878	0.46527	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.22743	1.94;2.02	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.68952	2.095	0.80722	D	1	P;D	0.89917	0.829;1.0	B;D	0.87578	0.417;0.998	T	0.39375	-0.9617	10	0.54805	T	0.06	-21.5246	19.0114	0.92874	0.0:0.0:1.0:0.0	.	936;966	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	Q	936;966	ENSP00000397906:E936Q;ENSP00000368824:E966Q	ENSP00000368824:E966Q	E	+	1	0	CNKSR2	21580351	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.481000	0.90437	2.439000	0.82584	0.544000	0.68410	GAA	CNKSR2	-	NULL		0.358	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	G	NM_014927		21670430	1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21670430	G	C	21670430	3	2	164	1	0	0	0	0	1	0	0	0	3612	943	33	1	2991	1	CNKSR2	23	21670430	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2044335	21670430	133600130	732	31520										
PHEX	5251	genome.wustl.edu	37	chrX	22112215	22112215	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gattggaaattaagatagctGaggtaagtcttcactgaaaa	10	4	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:22112215G>A	ENST00000379374.4	+	7	1412	c.847G>A	c.(847-849)Gag>Aag	p.E283K	PHEX_ENST00000537599.1_Missense_Mutation_p.E283K|PHEX_ENST00000535894.1_Missense_Mutation_p.E186K|PHEX_ENST00000475778.1_3'UTR	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	283					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TAAGATAGCTGAGGTAAGTCT	0.368																																																	0													104	94	98					X																	22112215		2203	4300	6503	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.847G>A	X.37:g.22112215G>A	ENSP00000368682:p.Glu283Lys		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E283K	ENST00000379374.4	37	c.847	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883505	0.51908	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.80738	-1.41;-1.41;-1.41	5.47	5.47	0.80525	Peptidase M13 (1);	0.099146	0.64402	D	0.000001	T	0.68403	0.2997	N	0.19112	0.55	0.80722	D	1	B;B	0.27013	0.138;0.166	B;B	0.24848	0.033;0.056	T	0.65590	-0.6131	10	0.31617	T	0.26	.	14.0271	0.64592	0.0:0.147:0.853:0.0	.	283;283	F5GXU4;P78562	.;PHEX_HUMAN	K	283;283;186	ENSP00000368682:E283K;ENSP00000440362:E283K;ENSP00000439418:E186K	ENSP00000368682:E283K	E	+	1	0	PHEX	22022136	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.933000	0.63484	2.287000	0.76781	0.436000	0.28706	GAG	PHEX	-	pfam_Peptidase_M13_N		0.368	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	G	NM_000444		22112215	1	no_errors	ENST00000379374	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22112215	G	A	22112215	3	1	164	1	0	0	0	0	1	0	0	0	11843	1291	45	1	873	1	PHEX	23	22112215	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	441785	22112215	133158345	733	31521										
BCOR	54880	genome.wustl.edu	37	chrX	39937175	39937175	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcccatacaggggggttgctGagagcatgtcgtcttctggg	15	9	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:39937175G>A	ENST00000378444.4	-	2	236	c.8C>T	c.(7-9)tCa>tTa	p.S3L	BCOR_ENST00000342274.4_Missense_Mutation_p.S3L|BCOR_ENST00000378455.4_Missense_Mutation_p.S3L|BCOR_ENST00000397354.3_Missense_Mutation_p.S3L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	3					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGGTTGCTGAGAGCATGTC	0.532			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													111	87	96					X																	39937175		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.8C>T	X.37:g.39937175G>A	ENSP00000367705:p.Ser3Leu		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S3L	ENST00000378444.4	37	c.8	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530089	0.85706	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000412952	T;T;T;T	0.61158	0.13;0.13;0.18;0.13	5.51	5.51	0.81932	.	.	.	.	.	T	0.66509	0.2796	L	0.29908	0.895	0.43152	D	0.994929	D;D;D;D	0.71674	0.998;0.998;0.997;0.998	D;D;D;D	0.81914	0.995;0.995;0.989;0.995	T	0.64833	-0.6314	8	.	.	.	-14.2594	18.4322	0.90630	0.0:0.0:1.0:0.0	.	3;3;3;3	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	L	3	ENSP00000367716:S3L;ENSP00000380512:S3L;ENSP00000367705:S3L;ENSP00000345923:S3L	.	S	-	2	0	BCOR	39822119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.292000	0.77174	0.513000	0.50165	TCA	BCOR	-	NULL		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39937175	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39937175	G	A	39937175	3	1	164	1	0	0	0	0	1	0	0	0	1387	1294	45	1	5315	1	BCOR	23	39937175	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	17824960	39937175	115333385	734	31522										
MAOB	4129	genome.wustl.edu	37	chrX	43654997	43654997	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cacagttacctcatacatctCatggtttagggtctccacaa	6	12	3	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:43654997C>G	ENST00000378069.4	-	7	904	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	MAOB_ENST00000536181.1_Missense_Mutation_p.E237Q|MAOB_ENST00000538942.1_Missense_Mutation_p.E237Q|MAOB_ENST00000487544.1_5'Flank	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	253					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TCATACATCTCATGGTTTAGG	0.413																																																	0													153	129	137					X																	43654997		2203	4300	6503	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.757G>C	X.37:g.43654997C>G	ENSP00000367309:p.Glu253Gln		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.E253Q	ENST00000378069.4	37	c.757	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	C	6.299	0.423354	0.11928	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	T;T;T	0.11385	2.78;2.78;2.78	5.29	5.29	0.74685	Amine oxidase (1);	0.157375	0.56097	D	0.000034	T	0.09158	0.0226	N	0.22421	0.69	0.58432	D	0.999995	B;B	0.22276	0.067;0.025	B;B	0.20184	0.028;0.009	T	0.26985	-1.0087	10	0.16896	T	0.51	-22.6696	18.3142	0.90213	0.0:1.0:0.0:0.0	.	237;253	B7Z5H3;P27338	.;AOFB_HUMAN	Q	253;237;237	ENSP00000367309:E253Q;ENSP00000441613:E237Q;ENSP00000442240:E237Q	ENSP00000367309:E253Q	E	-	1	0	MAOB	43539941	0.995000	0.38212	0.953000	0.39169	0.152000	0.21847	2.727000	0.47311	2.351000	0.79841	0.529000	0.55759	GAG	MAOB	-	pfam_Amino_oxidase		0.413	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	C	NM_000898		43654997	-1	no_errors	ENST00000378069	ensembl	human	known	70_37	missense	SNP	0.996	G	G	43654997	C	G	43654997	3	3	164	1	0	0	0	0	1	0	0	0	9249	835	29	1	841	1	MAOB	23	43654997	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3717822	43654997	111615563	735	31523										
CHST7	56548	genome.wustl.edu	37	chrX	46433633	46433633	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctcggttcccaagcaacctCagcggcgctgtcggggaggc	14	15	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:46433633C>T	ENST00000276055.3	+	1	415	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	89					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						CAAGCAACCTCAGCGGCGCTG	0.701																																																	0													20	16	17					X																	46433633		2203	4299	6502	SO:0001819	synonymous_variant	56548			AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"Sulfotransferases, membrane-bound"	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.267C>T	X.37:g.46433633C>T			O75667	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.L89	ENST00000276055.3	37	c.267	CCDS14268.1	X																																																																																			CHST7	-	pirsf_Carbohydrate_sulfotransferase		0.701	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST7	HGNC	protein_coding	OTTHUMT00000056362.1	C	NM_019886		46433633	1	no_errors	ENST00000276055	ensembl	human	known	70_37	silent	SNP	0.282	T	T	46433633	C	T	46433633	2	4	164	1	0	0	0	0	0	0	0	1	3414	813	29	1		1	CHST7	23	46433633	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2778636	46433633	108836927	736	31524										
RBM10	8241	genome.wustl.edu	37	chrX	47041164	47041164	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccagtcgtataccatcatgtCacccgctgtgctcaaatctg	7	14	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:47041164C>T	ENST00000377604.3	+	15	2334	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	RBM10_ENST00000329236.7_Missense_Mutation_p.S453L|RBM10_ENST00000345781.6_Missense_Mutation_p.S454L	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	531					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACCATCATGTCACCCGCTGTG	0.607																																					Melanoma(171;120 2705 19495 39241)												0													50	43	45					X																	47041164		2203	4300	6503	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1592C>T	X.37:g.47041164C>T	ENSP00000366829:p.Ser531Leu		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.S531L	ENST00000377604.3	37	c.1592	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792234	0.70452	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.19394	2.84;2.15;2.42	4.56	4.56	0.56223	.	0.000000	0.42964	D	0.000634	T	0.35653	0.0939	L	0.44542	1.39	0.36787	D	0.884623	P;P;D;D;P	0.61080	0.903;0.956;0.989;0.989;0.808	B;B;D;D;B	0.75020	0.31;0.366;0.978;0.985;0.281	T	0.31336	-0.9947	10	0.51188	T	0.08	-6.7779	11.7477	0.51830	0.0:1.0:0.0:0.0	.	454;596;530;453;531	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	L	531;453;454	ENSP00000366829:S531L;ENSP00000328848:S453L;ENSP00000329659:S454L	ENSP00000328848:S453L	S	+	2	0	RBM10	46926108	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.851000	0.55926	2.255000	0.74692	0.525000	0.51046	TCA	RBM10	-	NULL		0.607	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	C	NM_005676		47041164	1	no_errors	ENST00000377604	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47041164	C	T	47041164	3	4	164	1	0	0	0	0	1	0	0	0	13141	838	29	1	1646	1	RBM10	23	47041164	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	607531	47041164	108229396	737	31525										
USP11	8237	genome.wustl.edu	37	chrX	47106535	47106535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tggacctgtggatgctgccgGagattctcatcatccacctg	11	12	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:47106535G>A	ENST00000218348.3	+	18	2464	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	USP11_ENST00000377107.2_Missense_Mutation_p.E779K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	822	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GATGCTGCCGGAGATTCTCAT	0.557																																																	0													81	60	67					X																	47106535		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2464G>A	X.37:g.47106535G>A	ENSP00000218348:p.Glu822Lys		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.E822K	ENST00000218348.3	37	c.2464	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	g	12.87	2.066215	0.36470	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.27402	1.67;1.67	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.277260	0.34652	N	0.003796	T	0.36908	0.0984	N	0.26042	0.785	0.45962	D	0.998788	B;D	0.76494	0.091;0.999	B;D	0.85130	0.241;0.997	T	0.10428	-1.0630	10	0.12103	T	0.63	-28.7908	10.7693	0.46312	0.0906:0.0:0.9094:0.0	.	548;822	B3KP28;P51784	.;UBP11_HUMAN	K	779;822	ENSP00000366311:E779K;ENSP00000218348:E822K	ENSP00000218348:E822K	E	+	1	0	USP11	46991479	0.997000	0.39634	0.859000	0.33776	0.777000	0.43975	2.566000	0.45948	2.307000	0.77673	0.431000	0.28591	GAG	USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47106535	1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	0.993	A	A	47106535	G	A	47106535	3	1	164	1	0	0	0	0	1	0	0	0	17073	1175	41	1	2534	1	USP11	23	47106535	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	65371	47106535	108164025	738	31526										
CFP	5199	genome.wustl.edu	37	chrX	47486689	47486689	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gtccaccgtggcaggaggctGagcagggggtccaggggccc	19	12	0	1	rs132630260		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:47486689G>A	ENST00000396992.3	-	5	737	c.617C>T	c.(616-618)tCa>tTa	p.S206L	CFP_ENST00000247153.3_Missense_Mutation_p.S206L|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000377005.2_Missense_Mutation_p.S206L	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	206	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCAGGAGGCTGAGCAGGGGGT	0.657																																																	0			GRCh37	CM001763	CFP	M	rs132630260						29	34	33					X																	47486689		2200	4297	6497	SO:0001583	missense	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.617C>T	X.37:g.47486689G>A	ENSP00000380189:p.Ser206Leu		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S206L	ENST00000396992.3	37	c.617	CCDS14282.1	X	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835220	0.50951	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.39	5.39	0.77823	.	0.155218	0.44688	D	0.000424	D	0.84520	0.5490	M	0.91196	3.185	0.58432	D	0.999997	B;D	0.76494	0.105;0.999	B;D	0.79108	0.238;0.992	D	0.87515	0.2442	10	0.62326	D	0.03	.	13.5161	0.61541	0.0:0.0:1.0:0.0	.	142;206	B3KVK6;P27918	.;PROP_HUMAN	L	206;206;206;71	ENSP00000380189:S206L;ENSP00000247153:S206L;ENSP00000366204:S206L;ENSP00000418258:S71L	ENSP00000247153:S206L	S	-	2	0	CFP	47371633	1.000000	0.71417	0.828000	0.32881	0.527000	0.34593	4.197000	0.58413	2.256000	0.74724	0.596000	0.82720	TCA	CFP	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.657	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	G	NM_002621		47486689	-1	no_errors	ENST00000247153	ensembl	human	known	70_37	missense	SNP	0.995	A	A	47486689	G	A	47486689	3	1	164	1	0	0	0	0	1	0	0	0	3298	1294	45	1	812	1	CFP	23	47486689	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	380154	47486689	107783871	739	31527										
CCDC120	90060	genome.wustl.edu	37	chrX	48923078	48923078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atctggggggagccctgagcGgcgaaccccatggaaaccac	14	13	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:48923078G>A	ENST00000376396.3	+	8	995	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	CCDC120_ENST00000597275.1_Missense_Mutation_p.R259Q|CCDC120_ENST00000536628.2_Missense_Mutation_p.R247Q|CCDC120_ENST00000422185.2_Missense_Mutation_p.R259Q|CCDC120_ENST00000496529.2_Missense_Mutation_p.R259Q|CCDC120_ENST00000603986.1_Missense_Mutation_p.R294Q	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	259										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGCCCTGAGCGGCGAACCCCA	0.637																																																	0													21	19	19					X																	48923078		2202	4297	6499	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.776G>A	X.37:g.48923078G>A	ENSP00000365577:p.Arg259Gln		B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	pfam_DUF3338	p.R259Q	ENST00000376396.3	37	c.776	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237008	0.79800	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.15	4.29	0.51040	.	0.122796	0.56097	D	0.000032	T	0.48132	0.1483	L	0.34521	1.04	0.30760	N	0.744225	D;D;D;D	0.69078	0.994;0.997;0.997;0.997	D;D;D;D	0.66716	0.921;0.946;0.946;0.946	T	0.49513	-0.8932	9	0.34782	T	0.22	-7.1831	10.3479	0.43916	0.0963:0.0:0.9037:0.0	.	247;294;247;259	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	Q	259;259;247	.	ENSP00000365577:R259Q	R	+	2	0	CCDC120	48810022	0.996000	0.38824	0.979000	0.43373	0.984000	0.73092	2.464000	0.45067	1.088000	0.41272	0.529000	0.55759	CGG	CCDC120	-	NULL		0.637	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	G	NM_033626		48923078	1	no_errors	ENST00000422185	ensembl	human	known	70_37	missense	SNP	0.991	A	A	48923078	G	A	48923078	3	1	164	1	0	0	0	0	1	0	0	0	2761	1116	39	2	798	2	CCDC120	23	48923078	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	1436389	48923078	106347482	740	31528										
CLCN5	1184	genome.wustl.edu	37	chrX	49855078	49855078	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgtagagaccataatcagtGaaaccacttacagtggcttc	8	9	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:49855078G>A	ENST00000307367.2	+	10	2131	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	CLCN5_ENST00000376091.3_Missense_Mutation_p.E684K|CLCN5_ENST00000376088.3_Missense_Mutation_p.E684K|CLCN5_ENST00000376108.3_Missense_Mutation_p.E614K			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	614	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CATAATCAGTGAAACCACTTA	0.468																																																	0													72	60	64					X																	49855078		2203	4300	6503	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1840G>A	X.37:g.49855078G>A	ENSP00000304257:p.Glu614Lys		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.E684K	ENST00000307367.2	37	c.2050	CCDS14328.1	X	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110151	0.56398	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.78	5.78	0.91487	Cystathionine beta-synthase, core (3);	0.218018	0.52532	D	0.000073	D	0.90497	0.7023	L	0.42581	1.335	0.58432	D	0.999999	B;B	0.18610	0.004;0.029	B;B	0.23852	0.021;0.049	D	0.86525	0.1818	10	0.16896	T	0.51	-1.0229	17.6538	0.88172	0.0:0.0:1.0:0.0	.	614;684	P51795;P51795-2	CLCN5_HUMAN;.	K	684;516;684;614;614	ENSP00000365256:E684K;ENSP00000365259:E684K;ENSP00000365276:E614K;ENSP00000304257:E614K	ENSP00000304257:E614K	E	+	1	0	CLCN5	49741818	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.234000	0.65343	2.441000	0.82636	0.594000	0.82650	GAA	CLCN5	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core		0.468	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056544.1	G			49855078	1	no_errors	ENST00000376088	ensembl	human	known	70_37	missense	SNP	0.993	A	A	49855078	G	A	49855078	3	1	164	1	0	0	0	0	1	0	0	0	3471	1291	45	1	2092	1	CLCN5	23	49855078	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	932000	49855078	105415482	741	31529										
SHROOM4	57477	genome.wustl.edu	37	chrX	50351126	50351126	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caagtccagtgctgggttctCaaggcaaggatggaaagggg	16	7	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:50351126C>T	ENST00000289292.7	-	6	3299	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	SHROOM4_ENST00000460112.3_Missense_Mutation_p.E890K|SHROOM4_ENST00000376020.2_Missense_Mutation_p.E1006K			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1006					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTGGGTTCTCAAGGCAAGGA	0.438																																																	0													51	47	48					X																	50351126		2203	4300	6503	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3016G>A	X.37:g.50351126C>T	ENSP00000289292:p.Glu1006Lys		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1006K	ENST00000289292.7	37	c.3016	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806485	0.50421	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15603	2.83;2.83;2.41	5.51	3.68	0.42216	.	0.324927	0.26499	N	0.024033	T	0.14270	0.0345	L	0.34521	1.04	0.31269	N	0.692007	P	0.37061	0.58	B	0.35114	0.196	T	0.03503	-1.1030	10	0.72032	D	0.01	.	12.8285	0.57733	0.0:0.6938:0.3062:0.0	.	1006	Q9ULL8	SHRM4_HUMAN	K	1006;1006;890	ENSP00000289292:E1006K;ENSP00000365188:E1006K;ENSP00000421450:E890K	ENSP00000289292:E1006K	E	-	1	0	SHROOM4	50367866	1.000000	0.71417	0.979000	0.43373	0.920000	0.55202	2.444000	0.44890	0.470000	0.27294	0.600000	0.82982	GAG	SHROOM4	-	NULL		0.438	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	C	NM_020717		50351126	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	missense	SNP	0.994	T	T	50351126	C	T	50351126	3	4	164	1	0	0	0	0	1	0	0	0	14326	835	29	1	1481	1	SHROOM4	23	50351126	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	496048	50351126	104919434	742	31530										
KDM5C	8242	genome.wustl.edu	37	chrX	53223512	53223512	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgccagctgatggccctctCtgtgaggcactgcagggcct	13	13	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:53223512C>T	ENST00000375401.3	-	23	4379	c.3847G>A	c.(3847-3849)Gag>Aag	p.E1283K	KDM5C_ENST00000404049.3_Missense_Mutation_p.E1282K|KDM5C_ENST00000452825.3_Missense_Mutation_p.E1216K|KDM5C_ENST00000375379.3_Missense_Mutation_p.E1283K|KDM5C_ENST00000375383.3_Missense_Mutation_p.E1242K	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1283					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATGGCCCTCTCTGTGAGGCAC	0.672			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													24	22	23					X																	53223512		2203	4298	6501	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3847G>A	X.37:g.53223512C>T	ENSP00000364550:p.Glu1283Lys		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1283K	ENST00000375401.3	37	c.3847	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	24.9	4.577223	0.86645	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.01178	5.22;5.22;5.22;5.22;5.22	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	M	0.85630	2.765	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00978	-1.1493	10	0.87932	D	0	-21.8272	14.4625	0.67459	0.0:1.0:0.0:0.0	.	1216;1282;1283	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	K	1216;1283;1282;1283;1242	ENSP00000445176:E1216K;ENSP00000364550:E1283K;ENSP00000385394:E1282K;ENSP00000364528:E1283K;ENSP00000364532:E1242K	ENSP00000364528:E1283K	E	-	1	0	KDM5C	53240237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.781000	0.85668	1.991000	0.58162	0.525000	0.51046	GAG	KDM5C	-	NULL		0.672	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	C	NM_004187		53223512	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53223512	C	T	53223512	3	4	164	1	0	0	0	0	1	0	0	0	8155	922	32	1	949	1	KDM5C	23	53223512	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2872386	53223512	102047048	743	31531										
TRO	7216	genome.wustl.edu	37	chrX	54950074	54950074	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggcccaggccaagatagcctCtgctcagaccaacgtaagtg	11	13	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:54950074C>T	ENST00000173898.7	+	3	1221	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	TRO_ENST00000375041.2_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.S370F|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.S370F|TRO_ENST00000420798.2_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	370					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAGATAGCCTCTGCTCAGACC	0.587																																																	0													34	36	35					X																	54950074		2010	4170	6180	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1109C>T	X.37:g.54950074C>T	ENSP00000173898:p.Ser370Phe		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S370F	ENST00000173898.7	37	c.1109	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	C	0.553	-0.848588	0.02651	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.44482	0.92;0.92;0.92	2.87	1.01	0.19927	.	.	.	.	.	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B;B	0.21452	0.013;0.056	B;B	0.20577	0.018;0.03	T	0.22487	-1.0215	8	.	.	.	.	3.5745	0.07929	0.0:0.5817:0.259:0.1593	.	370;370	Q96SX2;Q12816	.;TROP_HUMAN	F	370	ENSP00000173898:S370F;ENSP00000318278:S370F;ENSP00000364162:S370F	.	S	+	2	0	TRO	54966799	0.007000	0.16637	0.000000	0.03702	0.015000	0.08874	0.128000	0.15810	0.136000	0.18733	0.502000	0.49764	TCT	TRO	-	NULL		0.587	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	C	NM_016157		54950074	1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	0.000	T	T	54950074	C	T	54950074	3	4	164	1	0	0	0	0	1	0	0	0	16605	913	32	1	1115	1	TRO	23	54950074	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1726562	54950074	100320486	744	31532										
KLF8	11279	genome.wustl.edu	37	chrX	56292146	56292146	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gcagccattacagtcccactCattggaggagatggtaaaaa	10	9	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:56292146C>T	ENST00000468660.1	+	3	903	c.615C>T	c.(613-615)ctC>ctT	p.L205L	KLF8_ENST00000374928.3_Silent_p.L205L	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CAGTCCCACTCATTGGAGGAG	0.493																																																	0													56	48	50					X																	56292146		2203	4300	6503	SO:0001819	synonymous_variant	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.615C>T	X.37:g.56292146C>T			B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L205	ENST00000468660.1	37	c.615	CCDS14373.1	X																																																																																			KLF8	-	NULL		0.493	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	HGNC	protein_coding	OTTHUMT00000056887.2	C	NM_007250		56292146	1	no_errors	ENST00000468660	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56292146	C	T	56292146	2	4	164	1	0	0	0	0	0	0	0	1	8372	813	29	1		1	KLF8	23	56292146	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1342072	56292146	98978414	745	31533										
ZC3H12B	340554	genome.wustl.edu	37	chrX	64722153	64722153	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttggttaccaacagccatggGacccctattagctatgctga	9	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:64722153G>A	ENST00000338957.4	+	5	1642	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	ZC3H12B_ENST00000423889.3_Silent_p.G514G	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	525							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGCCATGGGACCCCTATTA	0.502																																																	0													96	89	91					X																	64722153		1941	4126	6067	SO:0001819	synonymous_variant	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1575G>A	X.37:g.64722153G>A			B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	pfam_RNase_Zc3h12	p.G525	ENST00000338957.4	37	c.1575	CCDS48131.2	X																																																																																			ZC3H12B	-	NULL		0.502	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	G	XM_293334		64722153	1	no_errors	ENST00000338957	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64722153	G	A	64722153	2	1	164	1	0	0	0	0	0	0	0	1	17592	1161	41	1		1	ZC3H12B	23	64722153	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8430007	64722153	90548407	746	31534										
OPHN1	4983	genome.wustl.edu	37	chrX	67316727	67316727	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cataccttgccaaagtgctcGattagtatttccaccactat	5	12	0	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:67316727G>A	ENST00000355520.5	-	19	2312	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	OPHN1_ENST00000540071.1_Silent_p.I557I|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	557	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAAAGTGCTCGATTAGTATTT	0.468																																																	0													177	146	156					X																	67316727		2203	4300	6503	SO:0001819	synonymous_variant	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1671C>T	X.37:g.67316727G>A			B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.I557	ENST00000355520.5	37	c.1671	CCDS14388.1	X																																																																																			OPHN1	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.468	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	HGNC	protein_coding	OTTHUMT00000057011.1	G	NM_002547		67316727	-1	no_errors	ENST00000355520	ensembl	human	known	70_37	silent	SNP	0.989	A	A	67316727	G	A	67316727	2	1	164	1	0	0	0	0	0	0	0	1	10899	1048	37	1		1	OPHN1	23	67316727	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	2594574	67316727	87953833	747	31535										
STARD8	9754	genome.wustl.edu	37	chrX	67943510	67943510	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ggctatggaaggcatccacaGaggtggcagcccccccagct	13	14	0	1	rs368199805		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:67943510G>T	ENST00000252336.6	+	12	2974	c.2602G>T	c.(2602-2604)Gag>Tag	p.E868*	STARD8_ENST00000374597.3_Nonsense_Mutation_p.E868*|STARD8_ENST00000374599.3_Nonsense_Mutation_p.E948*	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	868	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGCATCCACAGAGGTGGCAGC	0.667																																																	0													10	12	12					X																	67943510		2177	4261	6438	SO:0001587	stop_gained	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2602G>T	X.37:g.67943510G>T	ENSP00000252336:p.Glu868*		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Nonsense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.E948*	ENST00000252336.6	37	c.2842	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	G	42	9.211084	0.99101	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	.	.	.	4.28	3.4	0.38934	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2517	0.43372	0.0:0.0:0.8011:0.1989	.	.	.	.	X	868;948;868	.	ENSP00000252336:E868X	E	+	1	0	STARD8	67860235	1.000000	0.71417	0.024000	0.17045	0.182000	0.23217	9.119000	0.94362	0.803000	0.34113	0.600000	0.82982	GAG	STARD8	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.667	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	G	NM_014725		67943510	1	no_errors	ENST00000374599	ensembl	human	known	70_37	nonsense	SNP	0.992	T	T	67943510	G	T	67943510	4	4	164	1	0	0	0	0	0	1	0	0	15293	943	33	3	2892	3	STARD8	23	67943510	Nonsense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	626783	67943510	87327050	748	31536										
STARD8	9754	genome.wustl.edu	37	chrX	67943675	67943675	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cccatccctgccgcgactttGtggtgcttcggtgaggggct	14	13	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:67943675G>C	ENST00000252336.6	+	12	3139	c.2767G>C	c.(2767-2769)Gtg>Ctg	p.V923L	STARD8_ENST00000374597.3_Missense_Mutation_p.V923L|STARD8_ENST00000374599.3_Missense_Mutation_p.V1003L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	923	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCGCGACTTTGTGGTGCTTCG	0.632																																																	0													35	29	31					X																	67943675		2198	4296	6494	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2767G>C	X.37:g.67943675G>C	ENSP00000252336:p.Val923Leu		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.V1003L	ENST00000252336.6	37	c.3007	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256429	0.22965	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.37584	1.19;1.19;1.19	4.25	3.36	0.38483	Lipid-binding START (3);START-like domain (1);	0.316033	0.25881	N	0.027681	T	0.25938	0.0632	L	0.31578	0.945	0.28564	N	0.910974	B;B	0.10296	0.001;0.003	B;B	0.21151	0.003;0.033	T	0.15321	-1.0441	10	0.38643	T	0.18	.	9.8053	0.40789	0.0:0.4018:0.5982:0.0	.	1003;923	Q92502-2;Q92502	.;STAR8_HUMAN	L	923;1003;923	ENSP00000252336:V923L;ENSP00000363727:V1003L;ENSP00000363725:V923L	ENSP00000252336:V923L	V	+	1	0	STARD8	67860400	0.250000	0.23951	0.915000	0.36163	0.598000	0.36846	0.479000	0.22228	0.800000	0.34041	0.594000	0.82650	GTG	STARD8	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.632	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	G	NM_014725		67943675	1	no_errors	ENST00000374599	ensembl	human	known	70_37	missense	SNP	0.533	C	C	67943675	G	C	67943675	3	2	164	1	0	0	0	0	1	0	0	0	15293	1377	48	4	3057	4	STARD8	23	67943675	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	165	67943675	87326885	749	31537										
SLC7A3	84889	genome.wustl.edu	37	chrX	70145747	70145747	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gagggttggttactcttaatCtcttccaggctgtgctggat	12	8	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:70145747C>G	ENST00000374299.3	-	12	1920	c.1776G>C	c.(1774-1776)gaG>gaC	p.E592D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E592D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	592					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TACTCTTAATCTCTTCCAGGC	0.493																																																	0													220	174	190					X																	70145747		2203	4300	6503	SO:0001583	missense	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1776G>C	X.37:g.70145747C>G	ENSP00000363417:p.Glu592Asp		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.E592D	ENST00000374299.3	37	c.1776	CCDS14404.1	X	.	.	.	.	.	.	.	.	.	.	C	5.172	0.217338	0.09810	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88509	-2.39;-2.39	4.78	2.76	0.32466	.	0.333223	0.35349	N	0.003270	T	0.73458	0.3589	N	0.08118	0	0.21290	N	0.999737	B	0.09022	0.002	B	0.10450	0.005	T	0.57476	-0.7805	10	0.17832	T	0.49	.	7.4676	0.27330	0.0:0.7503:0.0:0.2497	.	592	Q8WY07	CTR3_HUMAN	D	592	ENSP00000363417:E592D;ENSP00000298085:E592D	ENSP00000298085:E592D	E	-	3	2	SLC7A3	70062472	0.143000	0.22626	0.043000	0.18650	0.303000	0.27691	0.416000	0.21198	0.404000	0.25506	0.436000	0.28706	GAG	SLC7A3	-	NULL		0.493	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	HGNC	protein_coding	OTTHUMT00000057080.1	C	NM_032803		70145747	-1	no_errors	ENST00000298085	ensembl	human	known	70_37	missense	SNP	0.374	G	G	70145747	C	G	70145747	3	3	164	1	0	0	0	0	1	0	0	0	14728	912	32	1	87	1	SLC7A3	23	70145747	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2202072	70145747	85124813	750	31538										
ITGB1BP2	26548	genome.wustl.edu	37	chrX	70524984	70524984	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgaggaagaatctgacgattCagatgatgatctgagctgga	13	5	3	7			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:70524984C>T	ENST00000373829.3	+	11	1059	c.986C>T	c.(985-987)tCa>tTa	p.S329L	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.S311L	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	329	Asp/Glu-rich (acidic).				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TCTGACGATTCAGATGATGAT	0.517																																																	0													71	56	61					X																	70524984		2203	4300	6503	SO:0001583	missense	26548			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.986C>T	X.37:g.70524984C>T	ENSP00000362935:p.Ser329Leu		Q32N04|Q549J7	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.S329L	ENST00000373829.3	37	c.986	CCDS14411.1	X	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716721	0.48622	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	4.84	4.84	0.62591	.	0.507421	0.19942	N	0.102633	T	0.50292	0.1607	L	0.47716	1.5	0.41763	D	0.989723	P;P	0.51791	0.948;0.948	P;B	0.45610	0.487;0.407	T	0.56086	-0.8037	9	0.66056	D	0.02	-8.2298	12.0355	0.53423	0.0:1.0:0.0:0.0	.	311;329	Q32N04;Q9UKP3	.;ITBP2_HUMAN	L	329;311	.	ENSP00000362935:S329L	S	+	2	0	ITGB1BP2	70441709	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.512000	0.45485	2.227000	0.72691	0.513000	0.50165	TCA	ITGB1BP2	-	NULL		0.517	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB1BP2	HGNC	protein_coding	OTTHUMT00000057126.1	C	NM_012278		70524984	1	no_errors	ENST00000373829	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70524984	C	T	70524984	3	4	164	1	0	0	0	0	1	0	0	0	7912	838	29	1	1028	1	ITGB1BP2	23	70524984	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	379237	70524984	84745576	751	31539										
OGT	8473	genome.wustl.edu	37	chrX	70787860	70787860	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	caggagagactcttgcttctCgagttgcagcatcccagctc	10	13	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:70787860C>T	ENST00000373719.3	+	21	3077	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	OGT_ENST00000373701.3_Nonsense_Mutation_p.R944*	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	954					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCTTGCTTCTCGAGTTGCAGC	0.403																																																	0													229	188	202					X																	70787860		2203	4300	6503	SO:0001587	stop_gained	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2860C>T	X.37:g.70787860C>T	ENSP00000362824:p.Arg954*		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R954*	ENST00000373719.3	37	c.2860	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.987296	0.99027	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	.	.	.	4.93	4.05	0.47172	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0859	13.7629	0.62977	0.1545:0.8455:0.0:0.0	.	.	.	.	X	954;944	.	ENSP00000362805:R944X	R	+	1	2	OGT	70704585	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.062000	0.49971	1.035000	0.39972	0.544000	0.68410	CGA	OGT	-	NULL		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	C	NM_003605, NM_181672		70787860	1	no_errors	ENST00000373719	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	70787860	C	T	70787860	4	4	164	1	0	0	0	0	0	1	0	0	10871	876	31	1	2942	1	OGT	23	70787860	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	262876	70787860	84482700	752	31540										
ACRC	93953	genome.wustl.edu	37	chrX	70824305	70824305	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgaggctaaccctgaagtttCagagagaaagctgccaactg	11	9	1	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:70824305C>G	ENST00000373695.1	+	7	1715	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*	ACRC_ENST00000373696.3_Nonsense_Mutation_p.S393*			Q96QF7	ACRC_HUMAN	acidic repeat containing	393						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCTGAAGTTTCAGAGAGAAAG	0.488																																																	0													45	32	36					X																	70824305		2203	4300	6503	SO:0001587	stop_gained	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1178C>G	X.37:g.70824305C>G	ENSP00000362799:p.Ser393*		B9EG62	Nonsense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S393*	ENST00000373695.1	37	c.1178	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	C	37	5.996368	0.97184	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	.	.	.	3.25	-5.89	0.02282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	2.6814	0.05094	0.1381:0.1449:0.1366:0.5804	.	.	.	.	X	393	.	ENSP00000362799:S393X	S	+	2	0	ACRC	70741030	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.666000	0.00399	-1.781000	0.01277	-0.192000	0.12808	TCA	ACRC	-	NULL		0.488	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	C			70824305	1	no_errors	ENST00000373695	ensembl	human	known	70_37	nonsense	SNP	0.000	G	G	70824305	C	G	70824305	4	3	164	1	0	0	0	0	0	1	0	0	171	838	29	1	1204	1	ACRC	23	70824305	Nonsense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	36445	70824305	84446255	753	31541										
ATRX	546	genome.wustl.edu	37	chrX	76938516	76938516	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tctgaagaagaactgtgactCatcctgctcacctctttgag	8	11	4	5			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:76938516C>T	ENST00000373344.5	-	9	2446	c.2232G>A	c.(2230-2232)atG>atA	p.M744I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M706I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	744					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AACTGTGACTCATCCTGCTCA	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											135	133	134					X																	76938516		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2232G>A	X.37:g.76938516C>T	ENSP00000362441:p.Met744Ile		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M744I	ENST00000373344.5	37	c.2232	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	5.678	0.309722	0.10733	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92805	-3.1;-3.11	5.95	5.09	0.68999	.	0.253954	0.39475	N	0.001354	D	0.90000	0.6878	L	0.55481	1.735	0.80722	D	1	B;P;B;B	0.35774	0.146;0.519;0.004;0.146	B;B;B;B	0.37480	0.057;0.251;0.006;0.057	D	0.87618	0.2508	10	0.33141	T	0.24	-4.8744	14.2466	0.65993	0.0:0.9271:0.0:0.0729	.	744;676;706;744	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	I	744;706;671	ENSP00000362441:M744I;ENSP00000378967:M706I	ENSP00000362441:M744I	M	-	3	0	ATRX	76825172	0.943000	0.32029	0.908000	0.35775	0.820000	0.46376	0.796000	0.26986	1.265000	0.44215	-0.312000	0.09012	ATG	ATRX	-	NULL		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76938516	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76938516	C	T	76938516	3	4	164	1	0	0	0	0	1	0	0	0	1209	826	29	1	5354	1	ATRX	23	76938516	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	6114211	76938516	78332044	754	31542										
BRWD3	254065	genome.wustl.edu	37	chrX	79965077	79965077	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cagctaggctcataatcattCtgtaaaagagaagaataata	7	6	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:79965077C>T	ENST00000373275.4	-	21	2542		c.e21-1		BRWD3_ENST00000473691.1_Splice_Site	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATAATCATTCTGTAAAAGAG	0.408																																																	0													81	61	68					X																	79965077		2203	4300	6503	SO:0001630	splice_region_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2326-1G>A	X.37:g.79965077C>T			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Splice_Site	SNP	-	e21-1	ENST00000373275.4	37	c.2326-1	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486132	0.63962	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3472	0.90326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRWD3	79851733	1.000000	0.71417	0.990000	0.47175	0.861000	0.49209	5.311000	0.65786	2.273000	0.75805	0.600000	0.82982	.	BRWD3	-	-		0.408	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	C	NM_153252	Intron	79965077	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	79965077	C	T	79965077	5	4	164	1	0	0	0	0	0	0	1	0	1529	927	32	1	3167	1	BRWD3	23	79965077	Splice_Site	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	3026561	79965077	75305483	755	31543										
SYTL4	94121	genome.wustl.edu	37	chrX	99955937	99955937	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atgatctttcttcctggccaGatgtcacccatctgtgtctg	8	12	5	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:99955937G>A	ENST00000372989.1	-	7	826	c.495C>T	c.(493-495)atC>atT	p.I165I	SYTL4_ENST00000454200.2_Silent_p.I165I|SYTL4_ENST00000455616.1_Silent_p.I165I|SYTL4_ENST00000276141.6_Silent_p.I165I|SYTL4_ENST00000372981.1_Silent_p.I165I|SYTL4_ENST00000263033.5_Silent_p.I165I	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	165					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCCTGGCCAGATGTCACCCA	0.423																																																	0													147	131	136					X																	99955937		2203	4300	6503	SO:0001819	synonymous_variant	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.495C>T	X.37:g.99955937G>A			Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin	p.I165	ENST00000372989.1	37	c.495	CCDS14472.1	X																																																																																			SYTL4	-	NULL		0.423	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	G	NM_080737		99955937	-1	no_errors	ENST00000454200	ensembl	human	known	70_37	silent	SNP	0.826	A	A	99955937	G	A	99955937	2	1	164	1	0	0	0	0	0	0	0	1	15515	932	33	1		1	SYTL4	23	99955937	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	19990860	99955937	55314623	756	31544										
BTK	695	genome.wustl.edu	37	chrX	100613379	100613379	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agccaggtaatactggctctGaggtgtggaacacacaacat	11	9	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:100613379G>C	ENST00000308731.7	-	12	1184	c.1021C>G	c.(1021-1023)Cag>Gag	p.Q341E	BTK_ENST00000372880.1_Missense_Mutation_p.Q341E	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	341	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TACTGGCTCTGAGGTGTGGAA	0.498									Agammaglobulinemia, X-linked																																								0													194	160	172					X																	100613379		2203	4300	6503	SO:0001583	missense	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1021C>G	X.37:g.100613379G>C	ENSP00000308176:p.Gln341Glu		B2RAW1|Q32ML5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.Q341E	ENST00000308731.7	37	c.1021	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282472	0.23392	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000395179;ENST00000372869;ENST00000443591;ENST00000308731;ENST00000540426	D;D	0.91894	-2.93;-2.93	6.06	6.06	0.98353	SH2 motif (4);	0.111349	0.64402	D	0.000005	T	0.79399	0.4439	N	0.03016	-0.435	0.50171	D	0.999852	B;B;B;P	0.34462	0.001;0.071;0.005;0.454	B;B;B;B	0.34931	0.001;0.089;0.017;0.192	T	0.80439	-0.1382	10	0.02654	T	1	.	14.6529	0.68811	0.0:0.1412:0.8588:0.0	.	12;341;341;341	Q3MS94;Q5JY90;B2RAW1;Q06187	.;.;.;BTK_HUMAN	E	341;12;12;10;12;12;12;341;11	ENSP00000361971:Q341E;ENSP00000308176:Q341E	ENSP00000308176:Q341E	Q	-	1	0	BTK	100500035	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.466000	0.66731	2.562000	0.86427	0.600000	0.82982	CAG	BTK	-	pfam_SH2,smart_SH2,pfscan_SH2		0.498	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	G	NM_000061		100613379	-1	no_errors	ENST00000308731	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100613379	G	C	100613379	3	2	164	1	0	0	0	0	1	0	0	0	1560	1299	45	1	990	1	BTK	23	100613379	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	657442	100613379	54657181	757	31545										
GLA	2717	genome.wustl.edu	37	chrX	100662883	100662883	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agatgtagttctgggttcctCagctgcattgtcacggtgac	12	9	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:100662883C>T	ENST00000218516.3	-	1	30	c.9G>A	c.(7-9)ctG>ctA	p.L3L	RPL36A-HNRNPH2_ENST00000409170.3_Intron|HNRNPH2_ENST00000316594.5_5'Flank|GLA_ENST00000479445.1_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	3					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CTGGGTTCCTCAGCTGCATTG	0.547																																					Colon(193;776 2816 31189 44474)												0													59	55	56					X																	100662883		2203	4300	6503	SO:0001819	synonymous_variant	2717			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.9G>A	X.37:g.100662883C>T			Q6LER7	Silent	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.L3	ENST00000218516.3	37	c.9	CCDS14484.1	X																																																																																			GLA	-	NULL		0.547	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	C			100662883	-1	no_errors	ENST00000218516	ensembl	human	known	70_37	silent	SNP	0.000	T	T	100662883	C	T	100662883	2	4	164	1	0	0	0	0	0	0	0	1	6445	813	29	1		1	GLA	23	100662883	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	49504	100662883	54607677	758	31546										
NXF5	55998	genome.wustl.edu	37	chrX	101096287	101096287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttgctgggagacattgtaccGtttgttcatggtcagctgca	12	8	2	1	rs199849270		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:101096287G>A	ENST00000361708.2	-	7	696	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	NXF5_ENST00000537026.1_Missense_Mutation_p.R113W|NXF5_ENST00000473265.2_Missense_Mutation_p.R113W			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	113					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ACATTGTACCGTTTGTTCATG	0.547																																																	0								G	TRP/ARG	1,3830		0,1,1629,571	34	34	34		337	-0.9	0	X		34	1,6673		0,1,2410,1852	no	missense	NXF5	NM_032946.2	101	0,2,4039,2423	AA,AG,GG,G		0.015,0.0261,0.019	probably-damaging	113/366	101096287	2,10503	2201	4263	6464	SO:0001583	missense	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.337C>T	X.37:g.101096287G>A	ENSP00000355286:p.Arg113Trp		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	pfam_Tap_RNA-bd	p.R113W	ENST00000361708.2	37	c.337		X	.	.	.	.	.	.	.	.	.	.	.	12.18	1.859693	0.32884	2.61E-4	1.5E-4	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.58797	0.31;0.31;0.31	2.18	-0.91	0.10511	.	0.077917	0.50627	N	0.000108	T	0.52435	0.1734	M	0.91717	3.235	0.44807	D	0.997817	P	0.50443	0.935	B	0.37267	0.245	T	0.52495	-0.8568	10	0.87932	D	0	.	2.2335	0.04002	0.3224:0.0:0.4336:0.244	.	113	A2RRM0	.	W	113	ENSP00000442401:R113W;ENSP00000426978:R113W;ENSP00000355286:R113W	ENSP00000263032:R113W	R	-	1	2	NXF5	100982943	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	1.388000	0.34442	-0.338000	0.08413	-1.693000	0.00726	CGG	NXF5	-	NULL		0.547	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		G			101096287	-1	no_errors	ENST00000263032	ensembl	human	known	70_37	missense	SNP	0.959	A	A	101096287	G	A	101096287	3	1	164	1	0	0	0	0	1	0	0	0	10810	1144	40	2	800	2	NXF5	23	101096287	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	433404	101096287	54174273	759	31547										
ZMAT1	84460	genome.wustl.edu	37	chrX	101139058	101139058	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cctgaataggtctggaaagtCtcacatgggagcttttgctc	11	9	2	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:101139058C>T	ENST00000372782.3	-	7	1388	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	ZMAT1_ENST00000540921.1_Silent_p.E447E|ZMAT1_ENST00000458570.1_Silent_p.E276E|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	447						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCTGGAAAGTCTCACATGGGA	0.413																																																	0													170	158	162					X																	101139058		2203	4300	6503	SO:0001819	synonymous_variant	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1341G>A	X.37:g.101139058C>T			Q8NDS3|Q96JN6	Silent	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.E447	ENST00000372782.3	37	c.1341	CCDS35348.1	X																																																																																			ZMAT1	-	NULL		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	C			101139058	-1	no_errors	ENST00000372782	ensembl	human	known	70_37	silent	SNP	0.516	T	T	101139058	C	T	101139058	2	4	164	1	0	0	0	0	0	0	0	1	17721	912	32	1		1	ZMAT1	23	101139058	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	42771	101139058	54131502	760	31548										
BEX5	340542	genome.wustl.edu	37	chrX	101408943	101408943	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	atcatgatgatcatggtgagGagggtcccctataagaatgc	12	7	2	4			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:101408943G>C	ENST00000543160.1	-	3	596	c.295C>G	c.(295-297)Cct>Gct	p.P99A	BEX5_ENST00000333643.3_Missense_Mutation_p.P99A|BEX5_ENST00000484837.1_5'Flank	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	99						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P99S(1)		large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCATGGTGAGGAGGGTCCCCT	0.413																																																	1	Substitution - Missense(1)	lung(1)											249	189	210					X																	101408943		2203	4300	6503	SO:0001583	missense	340542			BC042818	CCDS35350.1	Xq22.1	2014-03-21	2008-11-04	2007-08-24	ENSG00000184515	ENSG00000184515			27990	protein-coding gene	gene with protein product		300693	"NGFRAP1-like 1", "BEX family member 5"	NGFRAP1L1		16221301	Standard	NM_001012978		Approved		uc004eir.3	Q5H9J7	OTTHUMG00000022049	ENST00000543160.1:c.295C>G	X.37:g.101408943G>C	ENSP00000446054:p.Pro99Ala		Q569J0|Q56A74	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like,pirsf_BEX	p.P99A	ENST00000543160.1	37	c.295	CCDS35350.1	X	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471131	0.43942	.	.	ENSG00000184515	ENST00000543160;ENST00000333643	T;T	0.10192	2.9;2.9	4.0	3.12	0.35913	.	0.244133	0.21537	N	0.072948	T	0.22898	0.0553	M	0.76574	2.34	0.24009	N	0.996181	D	0.61697	0.99	P	0.57720	0.826	T	0.04440	-1.0951	10	0.62326	D	0.03	.	6.0961	0.20021	0.1415:0.0:0.8585:0.0	.	99	Q5H9J7	BEX5_HUMAN	A	99	ENSP00000446054:P99A;ENSP00000328030:P99A	ENSP00000328030:P99A	P	-	1	0	BEX5	101295599	0.996000	0.38824	0.977000	0.42913	0.859000	0.49053	1.394000	0.34509	1.040000	0.40099	0.544000	0.68410	CCT	BEX5	-	pfam_TF_A-like/BEX-like,pirsf_BEX		0.413	BEX5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BEX5	HGNC	protein_coding	OTTHUMT00000057607.1	G	XM_291335		101408943	-1	no_errors	ENST00000333643	ensembl	human	known	70_37	missense	SNP	0.971	C	C	101408943	G	C	101408943	3	2	164	1	0	0	0	0	1	0	0	0	1414	1174	41	1	44	1	BEX5	23	101408943	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	269885	101408943	53861617	761	31549										
GPRASP1	9737	genome.wustl.edu	37	chrX	101909941	101909941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agaaaatgctaataccttttCaaggcccatgatcaagaaag	7	8	2	3			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:101909941C>T	ENST00000361600.5	+	5	1901	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S367L|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S367L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S367L	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	367					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S367*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATACCTTTTCAAGGCCCATG	0.488																																																	1	Substitution - Nonsense(1)	cervix(1)											50	59	56					X																	101909941		2202	4299	6501	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1100C>T	X.37:g.101909941C>T	ENSP00000355146:p.Ser367Leu		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S367L	ENST00000361600.5	37	c.1100	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	5.394	0.257819	0.10239	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	2.32	-2.31	0.06765	.	.	.	.	.	T	0.06962	0.0177	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50074	-0.8870	9	0.02654	T	1	0.1279	8.4942	0.33119	0.0:0.2467:0.0:0.7533	.	367	Q5JY77	GASP1_HUMAN	L	367	ENSP00000393691:S367L;ENSP00000409420:S367L;ENSP00000355146:S367L;ENSP00000445683:S367L	ENSP00000355146:S367L	S	+	2	0	GPRASP1	101796597	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-1.108000	0.03313	-0.849000	0.04158	0.458000	0.33432	TCA	GPRASP1	-	NULL		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	C	NM_014710		101909941	1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.000	T	T	101909941	C	T	101909941	3	4	164	1	0	0	0	0	1	0	0	0	6742	838	29	1	1102	1	GPRASP1	23	101909941	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	500998	101909941	53360619	762	31550										
ESX1	80712	genome.wustl.edu	37	chrX	103499058	103499058	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cggctcctcctgctgttgctCcggcttggtcaggggcggct	15	14	1	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:103499058C>G	ENST00000372588.4	-	2	366	c.283G>C	c.(283-285)Gag>Cag	p.E95Q		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	95					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGCTGTTGCTCCGGCTTGGTC	0.716																																					Pancreas(200;1705 2227 25194 28471 45274)												0													52	61	58					X																	103499058		2196	4263	6459	SO:0001583	missense	80712			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.283G>C	X.37:g.103499058C>G	ENSP00000361669:p.Glu95Gln		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU	p.E95Q	ENST00000372588.4	37	c.283	CCDS14516.1	X	.	.	.	.	.	.	.	.	.	.	c	8.927	0.962425	0.18583	.	.	ENSG00000123576	ENST00000372588	D	0.90788	-2.73	1.33	-0.882	0.10604	.	.	.	.	.	T	0.69780	0.3149	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.25884	0.064	T	0.65619	-0.6124	9	0.30078	T	0.28	0.4877	3.1892	0.06612	0.2515:0.559:0.0:0.1895	.	95	Q8N693	ESX1_HUMAN	Q	95	ENSP00000361669:E95Q	ENSP00000361669:E95Q	E	-	1	0	ESX1	103385714	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.316000	0.08071	-0.406000	0.07588	-0.845000	0.03042	GAG	ESX1	-	NULL		0.716	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2	C	NM_153448		103499058	-1	no_errors	ENST00000372588	ensembl	human	known	70_37	missense	SNP	0.000	G	G	103499058	C	G	103499058	3	3	164	1	0	0	0	0	1	0	0	0	5275	864	30	1	949	1	ESX1	23	103499058	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1589117	103499058	51771502	763	31551										
ALG13	79868	genome.wustl.edu	37	chrX	110928226	110928226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tttggagactctggaaaaagGaaagccactcgtagtggtta	12	6	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:110928226G>A	ENST00000394780.3	+	3	290	c.278G>A	c.(277-279)gGa>gAa	p.G93E	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Missense_Mutation_p.G93E	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	93	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CTGGAAAAAGGAAAGCCACTC	0.388																																																	0													196	199	198					X																	110928226		2203	4300	6503	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.278G>A	X.37:g.110928226G>A	ENSP00000378260:p.Gly93Glu		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_Glyco_trans_28_C	p.G93E	ENST00000394780.3	37	c.278	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	G	10.30	1.310970	0.23821	.	.	ENSG00000101901	ENST00000371979;ENST00000486353;ENST00000394780	D;D;D	0.82255	-1.59;-1.59;-1.59	6.17	5.31	0.75309	Glycosyl transferase, family 28, C-terminal (1);	.	.	.	.	D	0.86928	0.6051	.	.	.	0.80722	D	1	D;D;B	0.56968	0.973;0.978;0.002	P;P;B	0.55749	0.676;0.783;0.006	D	0.86486	0.1794	8	0.44086	T	0.13	.	13.6632	0.62378	0.0758:0.0:0.9242:0.0	.	15;93;93	Q9NP73-3;Q9NP73;Q9NP73-2	.;ALG13_HUMAN;.	E	93	ENSP00000361047:G93E;ENSP00000426892:G93E;ENSP00000378260:G93E	ENSP00000361047:G93E	G	+	2	0	ALG13	110814882	1.000000	0.71417	0.987000	0.45799	0.055000	0.15305	4.937000	0.63513	2.618000	0.88619	0.600000	0.82982	GGA	ALG13	-	pfam_Glyco_trans_28_C		0.388	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	G	NM_018466		110928226	1	no_errors	ENST00000371979	ensembl	human	known	70_37	missense	SNP	0.981	A	A	110928226	G	A	110928226	3	1	164	1	0	0	0	0	1	0	0	0	515	1174	41	1	288	1	ALG13	23	110928226	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	7429168	110928226	44342334	764	31552										
WDR44	54521	genome.wustl.edu	37	chrX	117528059	117528059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ctgattctctcctaaccgcaAgcatggcttcagaaagtacg	8	12	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:117528059A>G	ENST00000254029.3	+	5	1263	c.868A>G	c.(868-870)Agc>Ggc	p.S290G	WDR44_ENST00000371822.5_Missense_Mutation_p.S265G|WDR44_ENST00000371825.3_Missense_Mutation_p.S290G	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	290						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTAACCGCAAGCATGGCTTC	0.383																																																	0													131	118	122					X																	117528059		2203	4300	6503	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.868A>G	X.37:g.117528059A>G	ENSP00000254029:p.Ser290Gly		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S290G	ENST00000254029.3	37	c.868	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.767|9.767	1.171536|1.171536	0.21704|0.21704	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	.|T;T;T	.|0.73575	.|-0.76;-0.16;-0.04	5.43|5.43	3.1|3.1	0.35709|0.35709	.|.	.|0.523957	.|0.22784	.|N	.|0.055693	T|T	0.49440|0.49440	0.1557|0.1557	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.30707|0.30707	-0.9969|-0.9969	5|10	.|0.35671	.|T	.|0.21	-17.609|-17.609	6.0467|6.0467	0.19764|0.19764	0.7199:0.143:0.137:0.0|0.7199:0.143:0.137:0.0	.|.	.|265;290;290	.|F8W913;Q5JSH3-2;Q5JSH3	.|.;.;WDR44_HUMAN	R|G	189|265;290;290	.|ENSP00000360887:S265G;ENSP00000254029:S290G;ENSP00000360890:S290G	.|ENSP00000254029:S290G	K|S	+|+	2|1	0|0	WDR44|WDR44	117412087|117412087	0.010000|0.010000	0.17322|0.17322	0.189000|0.189000	0.23252|0.23252	0.429000|0.429000	0.31625|0.31625	2.088000|2.088000	0.41663|0.41663	1.802000|1.802000	0.52723|0.52723	0.486000|0.486000	0.48141|0.48141	AAG|AGC	WDR44	-	NULL		0.383	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	A	NM_019045		117528059	1	no_errors	ENST00000254029	ensembl	human	known	70_37	missense	SNP	0.002	G	G	117528059	A	G	117528059	3	3	164	1	0	0	0	0	1	0	0	0	17327	72	3	5	886	5	WDR44	23	117528059	Missense_Mutation	SNP	A	TCGA-JX-A3Q0-01A-11D-A21Q-09	6599833	117528059	37742501	765	31553										
SEPT6	23157	genome.wustl.edu	37	chrX	118763424	118763424	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ttcttatcctccagtttcttCttctcgtcctggtgcagttt	6	12	4	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:118763424C>T	ENST00000343984.5	-	9	1401	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K	SEPT6_ENST00000354228.4_Silent_p.K379K|SEPT6_ENST00000394616.4_Silent_p.K321K|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000360156.7_Silent_p.K379K|SEPT6_ENST00000394617.2_Silent_p.K409K|SEPT6_ENST00000354416.3_Silent_p.K379K|SEPT6_ENST00000489216.1_Silent_p.K379K|SEPT6_ENST00000394610.1_Silent_p.K379K	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	379					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCAGTTTCTTCTTCTCGTCCT	0.537			T	MLL	AML																																			Dom	yes		X	Xq24	23157	septin 6		L	0													134	122	126					X																	118763424		2203	4300	6503	SO:0001819	synonymous_variant	23157			D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1137G>A	X.37:g.118763424C>T			Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.K409	ENST00000343984.5	37	c.1227	CCDS14584.1	X																																																																																			SEPT6	-	pirsf_Septin		0.537	SEPT6-001	KNOWN	basic|CCDS	protein_coding	SEPT6	HGNC	protein_coding	OTTHUMT00000058059.1	C	NM_145802		118763424	-1	no_errors	ENST00000394617	ensembl	human	known	70_37	silent	SNP	1.000	T	T	118763424	C	T	118763424	2	4	164	1	0	0	0	0	0	0	0	1	14098	912	32	1		1	SEPT6	23	118763424	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	1235365	118763424	36507136	766	31554										
RAP2C	57826	genome.wustl.edu	37	chrX	131351094	131351094	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	cgtttttgatgtagagatctCtcatggaggcaaactgctca	10	8	3	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:131351094C>G	ENST00000342983.2	-	2	949	c.203G>C	c.(202-204)aGa>aCa	p.R68T	RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.R68T|RAP2C_ENST00000460462.1_5'UTR|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	68					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GTAGAGATCTCTCATGGAGGC	0.448																																																	0													110	105	107					X																	131351094		2203	4300	6503	SO:0001583	missense	57826			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.203G>C	X.37:g.131351094C>G	ENSP00000340274:p.Arg68Thr		B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R68T	ENST00000342983.2	37	c.203	CCDS14632.1	X	.	.	.	.	.	.	.	.	.	.	c	31	5.093981	0.94149	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.79845	-1.31;-1.31	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	L	0.52206	1.635	0.58432	D	0.99999	D	0.89917	1.0	D	0.76071	0.987	D	0.88765	0.3260	10	0.87932	D	0	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	68	Q9Y3L5	RAP2C_HUMAN	T	68	ENSP00000340274:R68T;ENSP00000359911:R68T	ENSP00000340274:R68T	R	-	2	0	RAP2C	131178775	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.677000	0.84024	2.236000	0.73375	0.502000	0.49764	AGA	RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.448	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	C	NM_021183		131351094	-1	no_errors	ENST00000342983	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131351094	C	G	131351094	3	3	164	1	0	0	0	0	1	0	0	0	13072	913	32	1	356	1	RAP2C	23	131351094	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	12587670	131351094	23919466	767	31555										
RAP2C	57826	genome.wustl.edu	37	chrX	131351137	131351137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tcctgcggtgtccagaatttCcagcacggagggggaagagt	15	9	0	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:131351137C>T	ENST00000342983.2	-	2	906	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.E54K|RAP2C_ENST00000460462.1_5'UTR|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	54					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TCCAGAATTTCCAGCACGGAG	0.468																																																	0													117	112	114					X																	131351137		2203	4300	6503	SO:0001583	missense	57826			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.160G>A	X.37:g.131351137C>T	ENSP00000340274:p.Glu54Lys		B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E54K	ENST00000342983.2	37	c.160	CCDS14632.1	X	.	.	.	.	.	.	.	.	.	.	c	36	5.704155	0.96812	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.77358	-1.09;-1.09	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91752	0.5413	10	0.87932	D	0	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	54	Q9Y3L5	RAP2C_HUMAN	K	54	ENSP00000340274:E54K;ENSP00000359911:E54K	ENSP00000340274:E54K	E	-	1	0	RAP2C	131178818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.677000	0.84024	2.236000	0.73375	0.502000	0.49764	GAA	RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.468	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	C	NM_021183		131351137	-1	no_errors	ENST00000342983	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131351137	C	T	131351137	3	4	164	1	0	0	0	0	1	0	0	0	13072	864	30	1	399	1	RAP2C	23	131351137	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	43	131351137	23919423	768	31556										
BRS3	680	genome.wustl.edu	37	chrX	135574333	135574333	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccctttgctctctactggctGagcaaaagcttccagaagca	8	13	1	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:135574333G>C	ENST00000370648.3	+	3	1227	c.999G>C	c.(997-999)ctG>ctC	p.L333L		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	333					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCTACTGGCTGAGCAAAAGCT	0.498																																																	0													155	142	147					X																	135574333		2203	4300	6503	SO:0001819	synonymous_variant	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.999G>C	X.37:g.135574333G>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L333	ENST00000370648.3	37	c.999	CCDS14656.1	X																																																																																			BRS3	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn		0.498	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	HGNC	protein_coding	OTTHUMT00000059005.1	G	NM_001727		135574333	1	no_errors	ENST00000370648	ensembl	human	known	70_37	silent	SNP	1.000	C	C	135574333	G	C	135574333	2	2	164	1	0	0	0	0	0	0	0	1	1525	1277	45	1		1	BRS3	23	135574333	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	4223196	135574333	19696227	769	31557										
GPR101	83550	genome.wustl.edu	37	chrX	136113007	136113007	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	tgccgtccttggcttccattCtgccctccttggccttgacc	8	17	1	1	rs140547587	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:136113007C>G	ENST00000298110.1	-	1	826	c.827G>C	c.(826-828)aGa>aCa	p.R276T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCTTCCATTCTGCCCTCCTT	0.582																																																	0													179	124	143					X																	136113007		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.827G>C	X.37:g.136113007C>G	ENSP00000298110:p.Arg276Thr		Q5JSM8|Q8NG93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R276T	ENST00000298110.1	37	c.827	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	C	0.408	-0.915008	0.02415	.	.	ENSG00000165370	ENST00000298110	T	0.63744	-0.06	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	1.153920	0.06668	N	0.765709	T	0.43634	0.1256	N	0.08118	0	0.25982	N	0.982351	B	0.09022	0.002	B	0.14578	0.011	T	0.07028	-1.0794	10	0.12766	T	0.61	-0.4456	13.2238	0.59903	0.0:1.0:0.0:0.0	.	276	Q96P66	GP101_HUMAN	T	276	ENSP00000298110:R276T	ENSP00000298110:R276T	R	-	2	0	GPR101	135940673	0.000000	0.05858	0.910000	0.35882	0.288000	0.27193	0.171000	0.16685	2.283000	0.76528	0.529000	0.55759	AGA	GPR101	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.582	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	C			136113007	-1	no_errors	ENST00000298110	ensembl	human	known	70_37	missense	SNP	0.966	G	G	136113007	C	G	136113007	3	3	164	1	0	0	0	0	1	0	0	0	6641	913	32	1	702	1	GPR101	23	136113007	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	538674	136113007	19157553	770	31558										
ZIC3	7547	genome.wustl.edu	37	chrX	136649738	136649738	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccggagcagaacaaccacgtCtgctactgggaggagtgccc	13	13	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:136649738C>T	ENST00000287538.5	+	1	1438	c.888C>T	c.(886-888)gtC>gtT	p.V296V	ZIC3_ENST00000370606.3_Silent_p.V296V	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	296					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACAACCACGTCTGCTACTGGG	0.602																																																	0													55	61	59					X																	136649738		2203	4300	6503	SO:0001819	synonymous_variant	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.888C>T	X.37:g.136649738C>T			B2CNW4|Q14DE5|Q5JY75	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V296	ENST00000287538.5	37	c.888	CCDS14663.1	X																																																																																			ZIC3	-	smart_Znf_C2H2-like		0.602	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	C			136649738	1	no_errors	ENST00000287538	ensembl	human	known	70_37	silent	SNP	1.000	T	T	136649738	C	T	136649738	2	4	164	1	0	0	0	0	0	0	0	1	17710	900	32	1		1	ZIC3	23	136649738	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	536731	136649738	18620822	771	31559										
ZIC3	7547	genome.wustl.edu	37	chrX	136649777	136649777	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccccgggagggcaagtctttCaaggcgaagtacaaactggt	13	10	2	0			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:136649777C>T	ENST00000287538.5	+	1	1477	c.927C>T	c.(925-927)ttC>ttT	p.F309F	ZIC3_ENST00000370606.3_Silent_p.F309F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	309	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCTTTCAAGGCGAAGT	0.607																																																	0													69	76	74					X																	136649777		2203	4300	6503	SO:0001819	synonymous_variant	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.927C>T	X.37:g.136649777C>T			B2CNW4|Q14DE5|Q5JY75	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F309	ENST00000287538.5	37	c.927	CCDS14663.1	X																																																																																			ZIC3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.607	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	C			136649777	1	no_errors	ENST00000287538	ensembl	human	known	70_37	silent	SNP	1.000	T	T	136649777	C	T	136649777	2	4	164	1	0	0	0	0	0	0	0	1	17710	825	29	1		1	ZIC3	23	136649777	Silent	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	39	136649777	18620783	772	31560										
SLITRK4	139065	genome.wustl.edu	37	chrX	142718330	142718330	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gacacggccaatgtgttccaGaaccccgatataagggagct	11	11	0	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:142718330G>A	ENST00000381779.4	-	2	820	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	SLITRK4_ENST00000338017.4_Silent_p.L199L|SLITRK4_ENST00000356928.1_Silent_p.L199L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	199						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTTCCAGAACCCCGATA	0.443																																																	0													81	78	79					X																	142718330		2203	4300	6503	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.595C>T	X.37:g.142718330G>A			Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L199	ENST00000381779.4	37	c.595	CCDS14679.1	X																																																																																			SLITRK4	-	smart_Leu-rich_rpt_typical-subtyp		0.443	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	G	NM_173078		142718330	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	silent	SNP	1.000	A	A	142718330	G	A	142718330	2	1	164	1	0	0	0	0	0	0	0	1	14775	933	33	1		1	SLITRK4	23	142718330	Silent	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	6068553	142718330	12552230	773	31561										
PASD1	139135	genome.wustl.edu	37	chrX	150840129	150840129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	agaaacaacagaaacaacacGctgggcaagtgaagcggcct	11	10	0	3	rs370064836		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:150840129G>A	ENST00000370357.4	+	13	1560	c.1315G>A	c.(1315-1317)Gct>Act	p.A439T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	439						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACAACACGCTGGGCAAGT	0.488																																																	0								G	THR/ALA	0,3835		0,0,1632,571	157	126	137		1315	-6.1	0	X		137	1,6727		0,1,2427,1872	no	missense	PASD1	NM_173493.2	58	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	439/774	150840129	1,10562	2203	4300	6503	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1315G>A	X.37:g.150840129G>A	ENSP00000359382:p.Ala439Thr		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	smart_PAS,pfscan_PAS	p.A439T	ENST00000370357.4	37	c.1315	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.968354	0.00457	0.0	1.49E-4	ENSG00000166049	ENST00000370357	T	0.19669	2.13	3.03	-6.05	0.02172	.	.	.	.	.	T	0.05547	0.0146	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.30078	T	0.28	-22.2859	2.4736	0.04570	0.1285:0.3857:0.2732:0.2126	.	439	Q8IV76	PASD1_HUMAN	T	439	ENSP00000359382:A439T	ENSP00000359382:A439T	A	+	1	0	PASD1	150590785	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.021000	0.03615	-4.091000	0.00074	-1.318000	0.01297	GCT	PASD1	-	NULL		0.488	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	G	NM_173493		150840129	1	no_errors	ENST00000370357	ensembl	human	known	70_37	missense	SNP	0.000	A	A	150840129	G	A	150840129	3	1	164	1	0	0	0	0	1	0	0	0	11495	1087	38	2	1361	2	PASD1	23	150840129	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	8121799	150840129	4430431	774	31562										
ARHGAP4	393	genome.wustl.edu	37	chrX	153187188	153187188	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	ccgcatgaactctgccagctCctgcagcaactcccgccgca	8	19	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:153187188C>G	ENST00000350060.5	-	2	183	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E48Q|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E48Q|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.E48Q|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E25Q	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	48	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCCAGCTCCTGCAGCAAC	0.692																																																	0													8	9	9					X																	153187188		2175	4257	6432	SO:0001583	missense	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.142G>C	X.37:g.153187188C>G	ENSP00000203786:p.Glu48Gln		Q14144|Q86UY3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E48Q	ENST00000350060.5	37	c.142	CCDS14736.1	X	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279006	0.80692	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.53206	2.26;0.63;0.63;0.63;0.63;0.63;0.63	5.08	5.08	0.68730	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.45126	D	0.000398	T	0.62841	0.2461	L	0.49126	1.545	0.54753	D	0.999989	D;D	0.67145	0.996;0.996	D;D	0.66847	0.947;0.947	T	0.66348	-0.5946	10	0.87932	D	0	.	16.5899	0.84762	0.0:1.0:0.0:0.0	.	48;48	Q86UY3;P98171	.;RHG04_HUMAN	Q	48;48;48;48;25;25;25	ENSP00000377322:E48Q;ENSP00000359045:E48Q;ENSP00000203786:E48Q;ENSP00000359033:E48Q;ENSP00000444169:E25Q;ENSP00000398259:E25Q;ENSP00000413782:E25Q	ENSP00000203786:E48Q	E	-	1	0	ARHGAP4	152840382	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	5.753000	0.68736	2.262000	0.75019	0.436000	0.28706	GAG	ARHGAP4	-	pfam_FCH,smart_FCH,pfscan_FCH		0.692	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666		153187188	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153187188	C	G	153187188	3	3	164	1	0	0	0	0	1	0	0	0	885	864	30	1	2906	1	ARHGAP4	23	153187188	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	2347059	153187188	2083372	775	31563										
HCFC1	3054	genome.wustl.edu	37	chrX	153215957	153215957	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	taatcttgccggaggtcacaGagggtggctcccaggtgagg	16	9	2	2			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:153215957G>A	ENST00000310441.7	-	24	6707	c.5741C>T	c.(5740-5742)tCt>tTt	p.S1914F	HCFC1_ENST00000354233.3_Missense_Mutation_p.S1845F|HCFC1_ENST00000369984.4_Missense_Mutation_p.S1959F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1914	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGTCACAGAGGGTGGCTC	0.602																																																	0													48	52	51					X																	153215957		2117	4225	6342	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5741C>T	X.37:g.153215957G>A	ENSP00000309555:p.Ser1914Phe		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.S1914F	ENST00000310441.7	37	c.5741	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570982	0.86542	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.55413	0.52;0.52;0.52	5.17	5.17	0.71159	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.053412	0.85682	D	0.000000	T	0.63200	0.2491	M	0.72894	2.215	0.45777	D	0.998662	D	0.55385	0.971	P	0.50440	0.641	T	0.69120	-0.5229	10	0.66056	D	0.02	.	16.5792	0.84710	0.0:0.0:1.0:0.0	.	1914	P51610	HCFC1_HUMAN	F	1914;1959;1845	ENSP00000309555:S1914F;ENSP00000359001:S1959F;ENSP00000346174:S1845F	ENSP00000309555:S1914F	S	-	2	0	HCFC1	152869151	1.000000	0.71417	0.740000	0.30986	0.684000	0.39900	5.778000	0.68940	2.171000	0.68590	0.521000	0.50471	TCT	HCFC1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.602	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	G	NM_005334		153215957	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	missense	SNP	0.995	A	A	153215957	G	A	153215957	3	1	164	1	0	0	0	0	1	0	0	0	7011	942	33	1	378	1	HCFC1	23	153215957	Missense_Mutation	SNP	G	TCGA-JX-A3Q0-01A-11D-A21Q-09	28769	153215957	2054603	776	31564										
FLNA	2316	genome.wustl.edu	37	chrX	153590890	153590890	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.565274151436031	433	7.10443487887995e-166	4.16197297161107	4.89425705028418	3.89777636283489	1.37390188833919e-27	2.66536966337803e-25	329	gatgatgtcgaagtcgatgtCagcttcggcggggcctacca	14	10	1	1			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:153590890C>T	ENST00000369850.3	-	17	2697	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	FLNA_ENST00000360319.4_Missense_Mutation_p.D821N|FLNA_ENST00000344736.4_Missense_Mutation_p.D821N|FLNA_ENST00000422373.1_Missense_Mutation_p.D821N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	821					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTCGATGTCAGCTTCGGCG	0.617																																																	0													85	95	92					X																	153590890		2093	4188	6281	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2461G>A	X.37:g.153590890C>T	ENSP00000358866:p.Asp821Asn		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.D821N	ENST00000369850.3	37	c.2461	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358818	0.82353	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.13	5.13	0.70059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062126	0.64402	D	0.000013	D	0.91700	0.7376	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.92664	0.6144	10	0.87932	D	0	.	17.9973	0.89188	0.0:1.0:0.0:0.0	.	821;821	P21333-2;P21333	.;FLNA_HUMAN	N	821;794;821;821;821	ENSP00000353467:D821N;ENSP00000416926:D821N;ENSP00000358866:D821N;ENSP00000358863:D821N	ENSP00000358863:D821N	D	-	1	0	FLNA	153244084	1.000000	0.71417	0.965000	0.40720	0.426000	0.31534	7.776000	0.85560	2.272000	0.75746	0.529000	0.55759	GAC	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	C			153590890	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153590890	C	T	153590890	3	4	164	1	0	0	0	0	1	0	0	0	5951	826	29	1	5610	1	FLNA	23	153590890	Missense_Mutation	SNP	C	TCGA-JX-A3Q0-01A-11D-A21Q-09	374933	153590890	1679670	777	31565										
FAM132A	388581	genome.wustl.edu	37	chr1	1177985	1177985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gcctggatggtgaggacggcCccggagccattgtccacaaa	14	12	0	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr1:1177985C>T	ENST00000330388.2	-	8	883	c.852G>A	c.(850-852)ggG>ggA	p.G284G		NM_001014980.2	NP_001014980.1	Q5T7M4	ADIPL_HUMAN	family with sequence similarity 132, member A	284	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGAGGACGGCCCCGGAGCCAT	0.687																																																	0													52	43	46					1																	1177985		2168	4270	6438	SO:0001819	synonymous_variant	388581			BC089443	CCDS30554.1	1p36.33	2012-03-26	2007-03-27	2007-03-27	ENSG00000184163	ENSG00000184163			32308	protein-coding gene	gene with protein product	"adipolin", "adipose-derived insulin-sensitizing factor"		"C1q domain containing 2"	C1QDC2		21849507	Standard	NM_001014980		Approved	MGC105127, C1QTNF12, CTRP12	uc001adl.2	Q5T7M4	OTTHUMG00000001412	ENST00000330388.2:c.852G>A	1.37:g.1177985C>T			Q5EBL5	Silent	SNP	superfamily_Tumour_necrosis_fac-like	p.G284	ENST00000330388.2	37	c.852	CCDS30554.1	1																																																																																			FAM132A	-	superfamily_Tumour_necrosis_fac-like		0.687	FAM132A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM132A	HGNC	protein_coding	OTTHUMT00000004080.4	C	XM_371208		1177985	-1	no_errors	ENST00000330388	ensembl	human	known	70_37	silent	SNP	0.979	T	T	1177985	C	T	1177985	2	4	165	1	0	0	0	0	0	0	0	1	5457	610	22	4		4	FAM132A	1	1177985	Silent	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09		1177985	248072636	1	31566										
MASP2	10747	genome.wustl.edu	37	chr1	11106635	11106635	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	tcggctgcatagaaggcctcGaaccccgtgaacggcttctc	11	14	1	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr1:11106635G>A	ENST00000400897.3	-	3	405	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MASP2_ENST00000400898.3_Silent_p.F130F	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	130	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGAAGGCCTCGAACCCCGTGA	0.622																																					GBM(35;611 746 20780 22741 36496)												0													52	46	48					1																	11106635		2203	4300	6503	SO:0001819	synonymous_variant	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.390C>T	1.37:g.11106635G>A			A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F130	ENST00000400897.3	37	c.390	CCDS123.1	1																																																																																			MASP2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.622	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP2	HGNC	protein_coding	OTTHUMT00000006072.1	G	NM_006610		11106635	-1	no_errors	ENST00000400897	ensembl	human	known	70_37	silent	SNP	0.999	A	A	11106635	G	A	11106635	2	1	165	1	0	0	0	0	0	0	0	1	9346	1049	37	1		1	MASP2	1	11106635	Silent	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	9928650	11106635	238143986	2	31567										
AK5	26289	genome.wustl.edu	37	chr1	77763549	77763549	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ttacagagataaagcaaaaaTtgatgcaaatacctgatgaa	7	5	0	4			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr1:77763549T>C	ENST00000354567.2	+	5	879	c.616T>C	c.(616-618)Ttg>Ctg	p.L206L	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Silent_p.L180L	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	206	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AAAGCAAAAATTGATGCAAAT	0.348																																																	0													91	94	93					1																	77763549		2203	4300	6503	SO:0001819	synonymous_variant	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.616T>C	1.37:g.77763549T>C			Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Silent	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.L206	ENST00000354567.2	37	c.616	CCDS675.1	1																																																																																			AK5	-	pfam_Adenylate_kin		0.348	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	T	NM_174858		77763549	1	no_errors	ENST00000354567	ensembl	human	known	70_37	silent	SNP	0.999	C	C	77763549	T	C	77763549	2	2	165	1	0	0	0	0	0	0	0	1	443	1490	52	5		5	AK5	1	77763549	Silent	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09	66656914	77763549	171487072	3	31568										
TTF2	8458	genome.wustl.edu	37	chr1	117617918	117617918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gaccatctgcatcttctcagGagaaatcaagtggtaagagt	10	8	4	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr1:117617918G>A	ENST00000369466.4	+	5	756	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	238					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ATCTTCTCAGGAGAAATCAAG	0.423																																																	0													149	162	157					1																	117617918		2203	4300	6503	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.712G>A	1.37:g.117617918G>A	ENSP00000358478:p.Glu238Lys		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E238K	ENST00000369466.4	37	c.712	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580403	0.13686	.	.	ENSG00000116830	ENST00000369466	D	0.87103	-2.21	5.87	0.74	0.18330	.	1.066300	0.07416	N	0.893160	T	0.61073	0.2318	L	0.47716	1.5	0.09310	N	1	B;B	0.20052	0.011;0.041	B;B	0.20955	0.003;0.032	T	0.51442	-0.8705	10	0.06625	T	0.88	-6.9518	5.4196	0.16394	0.2439:0.3042:0.4519:0.0	.	238;238	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	K	238	ENSP00000358478:E238K	ENSP00000358478:E238K	E	+	1	0	TTF2	117419441	0.005000	0.15991	0.000000	0.03702	0.016000	0.09150	0.600000	0.24104	0.309000	0.22966	0.655000	0.94253	GAG	TTF2	-	NULL		0.423	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	G			117617918	1	no_errors	ENST00000369466	ensembl	human	known	70_37	missense	SNP	0.000	A	A	117617918	G	A	117617918	3	1	165	1	0	0	0	0	1	0	0	0	16750	1175	41	1	730	1	TTF2	1	117617918	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	39854369	117617918	131632703	4	31569										
IGFN1	91156	genome.wustl.edu	37	chr1	201184859	201184859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ggacctgggggatggctacaCgcggctgtgcctccccagcg	16	14	0	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr1:201184859C>T	ENST00000335211.4	+	15	9318	c.9188C>T	c.(9187-9189)aCg>aTg	p.T3063M	IGFN1_ENST00000295591.8_Missense_Mutation_p.T223M|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	606						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GATGGCTACACGCGGCTGTGC	0.662																																																	0													41	37	38					1																	201184859		2203	4300	6503	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9188C>T	1.37:g.201184859C>T	ENSP00000334714:p.Thr3063Met		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T3063M	ENST00000335211.4	37	c.9188	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465445	0.63513	.	.	ENSG00000163395	ENST00000335211;ENST00000295591	T;T	0.43688	0.94;0.94	4.83	4.83	0.62350	.	0.292105	0.31290	N	0.007920	T	0.66317	0.2777	M	0.80982	2.52	0.24636	N	0.993596	D	0.89917	1.0	D	0.81914	0.995	T	0.62220	-0.6900	9	.	.	.	.	16.1224	0.81369	0.0:1.0:0.0:0.0	.	3063	F8WAI1	.	M	3063;223	ENSP00000334714:T3063M;ENSP00000295591:T223M	.	T	+	2	0	IGFN1	199451482	0.998000	0.40836	0.023000	0.16930	0.001000	0.01503	4.125000	0.57931	2.234000	0.73211	0.561000	0.74099	ACG	IGFN1	-	pfam_Ig_I-set,smart_Ig_sub		0.662	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		C	NM_178275		201184859	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.460	T	T	201184859	C	T	201184859	3	4	165	1	0	0	0	0	1	0	0	0	7610	536	19	2	9242	2	IGFN1	1	201184859	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	83566941	201184859	48065762	5	31570										
ZC3H11A	9877	genome.wustl.edu	37	chr1	203798606	203798606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gcccactgtgcctgagtcacCagaagaggaagtgaaggcta	13	10	1	4			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr1:203798606C>T	ENST00000545588.1	+	5	4153	c.326C>T	c.(325-327)cCa>cTa	p.P109L	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.P109L|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.P109L|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.P109L|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.P109L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	109					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTGAGTCACCAGAAGAGGAA	0.448																																																	0													69	70	70					1																	203798606		2203	4300	6503	SO:0001583	missense	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.326C>T	1.37:g.203798606C>T	ENSP00000438527:p.Pro109Leu		Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.P109L	ENST00000545588.1	37	c.326	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279258	0.59758	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.87	3.92	0.45320	.	0.771616	0.12481	N	0.465198	T	0.31231	0.0790	N	0.08118	0	0.41089	D	0.985582	P	0.40834	0.73	B	0.38842	0.283	T	0.14420	-1.0473	10	0.51188	T	0.08	-24.5351	14.3041	0.66373	0.2631:0.7369:0.0:0.0	.	109	O75152	ZC11A_HUMAN	L	109;109;55;109;109;109;109	ENSP00000356183:P109L;ENSP00000356181:P109L;ENSP00000333253:P109L;ENSP00000438527:P109L;ENSP00000356179:P109L	ENSP00000333253:P109L	P	+	2	0	ZC3H11A	202065229	0.369000	0.25039	0.998000	0.56505	0.998000	0.95712	0.562000	0.23531	0.854000	0.35336	0.655000	0.94253	CCA	ZC3H11A	-	NULL		0.448	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	C	NM_014827		203798606	1	no_errors	ENST00000332127	ensembl	human	known	70_37	missense	SNP	0.995	T	T	203798606	C	T	203798606	3	4	165	1	0	0	0	0	1	0	0	0	17590	594	21	4	340	4	ZC3H11A	1	203798606	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	2613747	203798606	45452015	6	31571										
KHK	3795	genome.wustl.edu	37	chr2	27322557	27322557	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gagcgtgcaggaagcactgaGattcgggtgccaggtggccg	18	9	0	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr2:27322557G>C	ENST00000260599.6	+	8	1349	c.836G>C	c.(835-837)aGa>aCa	p.R279T	KHK_ENST00000260598.5_Missense_Mutation_p.R279T|KHK_ENST00000490823.1_3'UTR|CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	279					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCACTGAGATTCGGGTGC	0.617																																																	0													77	63	68					2																	27322557		2203	4300	6503	SO:0001583	missense	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.836G>C	2.37:g.27322557G>C	ENSP00000260599:p.Arg279Thr		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	pfam_PfkB	p.R279T	ENST00000260599.6	37	c.836	CCDS1734.1	2	.	.	.	.	.	.	.	.	.	.	G	3.921	-0.018102	0.07681	.	.	ENSG00000138030	ENST00000260599;ENST00000260598	T;T	0.78924	-1.22;-1.22	4.91	0.788	0.18601	Carbohydrate/purine kinase (1);	0.157984	0.53938	N	0.000057	T	0.53206	0.1782	N	0.10809	0.05	0.80722	D	1	B;B;B;B	0.12630	0.002;0.006;0.0;0.006	B;B;B;B	0.12837	0.004;0.008;0.003;0.008	T	0.29458	-1.0011	10	0.11794	T	0.64	-8.9101	9.4549	0.38750	0.0902:0.568:0.3418:0.0	.	279;279;279;279	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	T	279	ENSP00000260599:R279T;ENSP00000260598:R279T	ENSP00000260598:R279T	R	+	2	0	KHK	27176061	1.000000	0.71417	0.337000	0.25536	0.158000	0.22134	4.129000	0.57957	0.262000	0.21774	-0.314000	0.08810	AGA	KHK	-	pfam_PfkB		0.617	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KHK	HGNC	protein_coding	OTTHUMT00000214196.1	G			27322557	1	no_errors	ENST00000260598	ensembl	human	known	70_37	missense	SNP	0.931	C	C	27322557	G	C	27322557	3	2	165	1	0	0	0	0	1	0	0	0	8169	942	33	1	1005	1	KHK	2	27322557	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09		27322557	215876816	7	31572										
MSH2	4436	genome.wustl.edu	37	chr2	47639566	47639566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	aaaatagataattcaaagagGaggaattctgatcacagaaa	8	4	3	4			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr2:47639566G>T	ENST00000233146.2	+	4	882	c.659G>T	c.(658-660)gGa>gTa	p.G220V	MSH2_ENST00000543555.1_Missense_Mutation_p.G154V|MSH2_ENST00000406134.1_Missense_Mutation_p.G220V	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	220					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTCAAAGAGGAGGAATTCTG	0.313			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)											46	47	47					2																	47639566		2203	4300	6503	SO:0001583	missense	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.659G>T	2.37:g.47639566G>T	ENSP00000233146:p.Gly220Val		B4E2Z2|O75488	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.G220V	ENST00000233146.2	37	c.659	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973215	0.34848	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792;ENST00000413880	D;D;D	0.87103	-2.21;-2.21;-2.21	5.3	3.42	0.39159	DNA mismatch repair protein MutS, connector (1);	0.189182	0.47093	D	0.000252	D	0.88355	0.6414	L	0.48877	1.53	0.80722	D	1	P;B;B;P	0.50528	0.936;0.187;0.379;0.814	P;B;B;P	0.53035	0.673;0.185;0.241;0.716	D	0.88172	0.2865	10	0.62326	D	0.03	-3.6239	15.5397	0.76031	0.0:0.247:0.753:0.0	.	154;220;220;220	B4E2Z2;E7EQQ1;E9PHA6;P43246	.;.;.;MSH2_HUMAN	V	220;154;220;220;220;220;220;220;56	ENSP00000233146:G220V;ENSP00000442697:G154V;ENSP00000384199:G220V	ENSP00000233146:G220V	G	+	2	0	MSH2	47493070	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	6.331000	0.72929	0.585000	0.29608	0.558000	0.71614	GGA	MSH2	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_MSH2		0.313	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3	G			47639566	1	no_errors	ENST00000233146	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47639566	G	T	47639566	3	4	165	1	0	0	0	0	1	0	0	0	9893	1174	41	3	673	3	MSH2	2	47639566	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	20317009	47639566	195559807	8	31573										
STAT1	6772	genome.wustl.edu	37	chr2	191841666	191841666	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ggaatattctcagcagccatGactttgtaattgcgaatgat	9	7	1	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr2:191841666G>A	ENST00000361099.3	-	22	2346	c.1959C>T	c.(1957-1959)gtC>gtT	p.V653V	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.V653V|STAT1_ENST00000392323.2_Silent_p.V655V|STAT1_ENST00000392322.3_Silent_p.V653V	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	653	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CAGCAGCCATGACTTTGTAAT	0.413																																																	0													116	109	111					2																	191841666		2203	4300	6503	SO:0001819	synonymous_variant	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1959C>T	2.37:g.191841666G>A			A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.V653	ENST00000361099.3	37	c.1959	CCDS2309.1	2																																																																																			STAT1	-	pfscan_SH2		0.413	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	G	NM_007315		191841666	-1	no_errors	ENST00000361099	ensembl	human	known	70_37	silent	SNP	1.000	A	A	191841666	G	A	191841666	2	1	165	1	0	0	0	0	0	0	0	1	15294	1277	45	1		1	STAT1	2	191841666	Silent	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	144202100	191841666	51357707	9	31574										
ANO7	50636	genome.wustl.edu	37	chr2	242149950	242149950	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	catcctcatcctctccaagaTctatgtatccctggcccacg	5	17	3	1	rs534689646		TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr2:242149950T>A	ENST00000274979.8	+	15	1791	c.1688T>A	c.(1687-1689)aTc>aAc	p.I563N	ANO7_ENST00000402430.3_Missense_Mutation_p.I562N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	563					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTCTCCAAGATCTATGTATCC	0.647																																																	0													108	92	97					2																	242149950		2203	4300	6503	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1688T>A	2.37:g.242149950T>A	ENSP00000274979:p.Ile563Asn		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.I563N	ENST00000274979.8	37	c.1688	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984776	0.74474	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.66995	-0.24;-0.24	3.34	3.34	0.38264	.	2.468800	0.02314	U	0.072346	T	0.81735	0.4885	M	0.80847	2.515	0.39296	D	0.96481	D	0.55172	0.97	P	0.57960	0.83	T	0.68247	-0.5459	10	0.72032	D	0.01	.	10.9906	0.47547	0.0:0.0:0.0:1.0	.	563	Q6IWH7	ANO7_HUMAN	N	563;562	ENSP00000274979:I563N;ENSP00000385418:I562N	ENSP00000274979:I563N	I	+	2	0	ANO7	241798623	0.900000	0.30661	0.055000	0.19348	0.293000	0.27360	4.002000	0.57053	1.289000	0.44618	0.260000	0.18958	ATC	ANO7	-	pfam_Anoctamin		0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	T	NM_001001891		242149950	1	no_errors	ENST00000274979	ensembl	human	known	70_37	missense	SNP	0.992	A	A	242149950	T	A	242149950	3	1	165	1	0	0	0	0	1	0	0	0	702	1435	50	5	1818	5	ANO7	2	242149950	Missense_Mutation	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09	50308284	242149950	1049423	10	31575										
IRAK2	3656	genome.wustl.edu	37	chr3	10219598	10219598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gtgcagggtgtgagcatcacGcgggagctgctgtggtggtg	20	7	1	1	rs572521578	byFrequency	TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr3:10219598G>A	ENST00000256458.4	+	2	261	c.171G>A	c.(169-171)acG>acA	p.T57T		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	57	Death.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGAGCATCACGCGGGAGCTGC	0.637													G|||	2	0.000399361	0	0.0029	5008	,	,		15740	0		0	False		,,,				2504	0																0													70	64	66					3																	10219598		2203	4300	6503	SO:0001819	synonymous_variant	3656			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.171G>A	3.37:g.10219598G>A			B4DQZ6|Q08AG6|Q5K546	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T57	ENST00000256458.4	37	c.171	CCDS33697.1	3																																																																																			IRAK2	-	pfam_Death,superfamily_DEATH-like		0.637	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	G			10219598	1	no_errors	ENST00000256458	ensembl	human	known	70_37	silent	SNP	0.036	A	A	10219598	G	A	10219598	2	1	165	1	0	0	0	0	0	0	0	1	7843	1074	38	2		2	IRAK2	3	10219598	Silent	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09		10219598	187802832	11	31576										
COL6A5	256076	genome.wustl.edu	37	chr3	130095298	130095298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gcagaagccccatgctgaacCacctcaagaagaactttcag	8	13	2	4			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr3:130095298C>A	ENST00000432398.2	+	3	780	c.286C>A	c.(286-288)Cac>Aac	p.H96N	COL6A5_ENST00000265379.6_Missense_Mutation_p.H96N	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	96	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CATGCTGAACCACCTCAAGAA	0.517																																																	0													79	69	72					3																	130095298		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.286C>A	3.37:g.130095298C>A	ENSP00000390895:p.His96Asn		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.H96N	ENST00000432398.2	37	c.286		3	.	.	.	.	.	.	.	.	.	.	C	8.370	0.835203	0.16820	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.82433	-1.61;-1.61	5.14	2.23	0.28157	.	.	.	.	.	D	0.88112	0.6349	M	0.78049	2.395	0.22050	N	0.999393	D	0.71674	0.998	D	0.70487	0.969	T	0.75682	-0.3233	9	0.30078	T	0.28	.	6.5929	0.22656	0.1471:0.6917:0.0:0.1612	.	96	A8TX70-2	.	N	96	ENSP00000390895:H96N;ENSP00000265379:H96N	ENSP00000265379:H96N	H	+	1	0	COL6A5	131577988	0.968000	0.33430	1.000000	0.80357	0.042000	0.13812	1.008000	0.29872	0.615000	0.30124	0.557000	0.71058	CAC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.517	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		C	NM_153264		130095298	1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	0.999	A	A	130095298	C	A	130095298	3	1	165	1	0	0	0	0	1	0	0	0	3707	594	21	4	292	4	COL6A5	3	130095298	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	119875700	130095298	67927132	12	31577										
TMEM175	84286	genome.wustl.edu	37	chr4	947120	947120	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gtgctttgcagcggccatctTctctctcttctttgtcccct	7	15	4	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr4:947120T>G	ENST00000264771.4	+	8	790	c.605T>G	c.(604-606)tTc>tGc	p.F202C	TMEM175_ENST00000515740.1_Missense_Mutation_p.F86C|TMEM175_ENST00000508204.1_Missense_Mutation_p.F120C|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	202						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCGGCCATCTTCTCTCTCTTC	0.642																																																	0													125	110	115					4																	947120		2203	4300	6503	SO:0001583	missense	84286			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.605T>G	4.37:g.947120T>G	ENSP00000264771:p.Phe202Cys		D3DVN4|Q8ND13	Missense_Mutation	SNP	pfam_DUF1211_TMEM175	p.F202C	ENST00000264771.4	37	c.605	CCDS3341.1	4	.	.	.	.	.	.	.	.	.	.	t	15.12	2.739846	0.49045	.	.	ENSG00000127419	ENST00000264771;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T	0.51574	1.28;1.26;0.7	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.66939	2.045	0.54753	D	0.999982	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.85130	0.804;0.997;0.963	T	0.66814	-0.5828	10	0.66056	D	0.02	-15.9538	10.3981	0.44214	0.0:0.0:0.0:1.0	.	120;202;120	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	C	202;120;120;108;86;120;120	ENSP00000264771:F202C;ENSP00000427039:F86C;ENSP00000423669:F120C	ENSP00000264771:F202C	F	+	2	0	TMEM175	937120	1.000000	0.71417	0.955000	0.39395	0.059000	0.15707	2.929000	0.48916	1.705000	0.51264	0.468000	0.43344	TTC	TMEM175	-	NULL		0.642	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	HGNC	protein_coding	OTTHUMT00000239193.2	T	NM_032326		947120	1	no_errors	ENST00000264771	ensembl	human	known	70_37	missense	SNP	1.000	G	G	947120	T	G	947120	3	3	165	1	0	0	0	0	1	0	0	0	16121	1783	62	5	631	5	TMEM175	4	947120	Missense_Mutation	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09		947120	190207156	13	31578										
NOP14	8602	genome.wustl.edu	37	chr4	2949269	2949269	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ttacacaaccaacttatcaaTgactgtgaggtctggtgggt	10	8	2	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr4:2949269T>A	ENST00000314262.6	-	10	1531	c.1483A>T	c.(1483-1485)Att>Ttt	p.I495F	NOP14_ENST00000502735.1_Missense_Mutation_p.I495F|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.I495F|NOP14_ENST00000416614.2_Missense_Mutation_p.I495F	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	495					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AACTTATCAATGACTGTGAGG	0.398																																																	0													136	125	129					4																	2949269		2203	4300	6503	SO:0001583	missense	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1483A>T	4.37:g.2949269T>A	ENSP00000315674:p.Ile495Phe		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.I495F	ENST00000314262.6	37	c.1483	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390999	0.25118	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.46	3.07	0.35406	.	0.316592	0.34338	N	0.004048	T	0.44561	0.1299	L	0.52573	1.65	0.34356	D	0.690435	D;D;D	0.71674	0.998;0.984;0.987	D;P;P	0.71184	0.972;0.865;0.899	T	0.57860	-0.7738	10	0.87932	D	0	-17.4688	9.0234	0.36213	0.0:0.1512:0.0:0.8488	.	288;495;495	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	F	495;495;495;495;394	ENSP00000405068:I495F;ENSP00000315674:I495F;ENSP00000427415:I495F;ENSP00000381146:I495F	ENSP00000315674:I495F	I	-	1	0	NOP14	2919067	0.956000	0.32656	0.010000	0.14722	0.519000	0.34347	1.643000	0.37217	0.913000	0.36797	0.533000	0.62120	ATT	NOP14	-	pfam_Nop14		0.398	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	T	NM_003703		2949269	-1	no_errors	ENST00000416614	ensembl	human	known	70_37	missense	SNP	0.348	A	A	2949269	T	A	2949269	3	1	165	1	0	0	0	0	1	0	0	0	10560	1464	51	5	1126	5	NOP14	4	2949269	Missense_Mutation	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09	2002149	2949269	188205007	14	31579										
LCORL	254251	genome.wustl.edu	37	chr4	17885634	17885634	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ttactgtcttttcgatctaaTccatcttcagtattttcaga	4	9	5	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr4:17885634T>A	ENST00000382226.5	-	7	1626	c.1518A>T	c.(1516-1518)ggA>ggT	p.G506G	LCORL_ENST00000539056.1_Intron|LCORL_ENST00000326877.4_Intron|LCORL_ENST00000382224.1_Silent_p.G422G	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	506					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTCGATCTAATCCATCTTCAG	0.403																																																	0													93	71	78					4																	17885634		692	1590	2282	SO:0001819	synonymous_variant	254251				CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.1518A>T	4.37:g.17885634T>A			Q96NK1	Silent	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.G506	ENST00000382226.5	37	c.1518	CCDS54749.1	4																																																																																			LCORL	-	NULL		0.403	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LCORL	HGNC	protein_coding		T	NM_153686		17885634	-1	no_errors	ENST00000382226	ensembl	human	known	70_37	silent	SNP	0.979	A	A	17885634	T	A	17885634	2	1	165	1	0	0	0	0	0	0	0	1	8710	1422	50	5		5	LCORL	4	17885634	Silent	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09	14936365	17885634	173268642	15	31580										
NPY5R	4889	genome.wustl.edu	37	chr4	164271435	164271435	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	aggactataatatggatttaGagctcgacgagtattataac	9	5	0	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr4:164271435G>C	ENST00000515560.1	+	4	1532	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	NPY5R_ENST00000506953.1_Missense_Mutation_p.E4Q|NPY5R_ENST00000338566.3_Missense_Mutation_p.E4Q			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	4					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TATGGATTTAGAGCTCGACGA	0.363																																					Melanoma(139;1287 1774 9781 19750 25599)												0													54	56	56					4																	164271435		2203	4300	6503	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.10G>C	4.37:g.164271435G>C	ENSP00000423917:p.Glu4Gln		Q6GTR7|Q92916	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E4Q	ENST00000515560.1	37	c.10	CCDS3804.1	4	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891196	0.33442	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.72051	-0.62;-0.62;-0.62	5.35	4.5	0.54988	.	0.717759	0.11794	N	0.528842	T	0.60222	0.2252	L	0.27053	0.805	0.24009	N	0.996184	B	0.13594	0.008	B	0.13407	0.009	T	0.51888	-0.8648	10	0.42905	T	0.14	.	13.4623	0.61233	0.0769:0.0:0.9231:0.0	.	4	Q15761	NPY5R_HUMAN	Q	4	ENSP00000339377:E4Q;ENSP00000423917:E4Q;ENSP00000423474:E4Q	ENSP00000339377:E4Q	E	+	1	0	NPY5R	164490885	1.000000	0.71417	0.275000	0.24674	0.888000	0.51559	3.268000	0.51585	1.364000	0.46038	0.655000	0.94253	GAG	NPY5R	-	NULL		0.363	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY5R	HGNC	protein_coding	OTTHUMT00000364633.1	G	NM_006174		164271435	1	no_errors	ENST00000338566	ensembl	human	known	70_37	missense	SNP	0.942	C	C	164271435	G	C	164271435	3	2	165	1	0	0	0	0	1	0	0	0	10634	943	33	1	12	1	NPY5R	4	164271435	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	146385801	164271435	26882841	16	31581										
PCDHA8	56140	genome.wustl.edu	37	chr5	140222840	140222840	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cgaagcggactctccgcgccAccgtctgctggtcctggtga	13	15	2	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr5:140222840A>C	ENST00000531613.1	+	1	1934	c.1934A>C	c.(1933-1935)cAc>cCc	p.H645P	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.H645P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCGCGCCACCGTCTGCTG	0.662																																																	0													101	100	100					5																	140222840		2197	4267	6464	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1934A>C	5.37:g.140222840A>C	ENSP00000434655:p.His645Pro		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H645P	ENST00000531613.1	37	c.1934	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354120	0.41700	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.52526	0.66;0.66	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.591505	0.13034	U	0.419082	T	0.56455	0.1986	M	0.72624	2.21	0.31160	N	0.704448	D;P	0.54772	0.968;0.931	P;P	0.54026	0.74;0.622	T	0.61192	-0.7112	10	0.87932	D	0	.	7.3267	0.26560	0.8041:0.0:0.0:0.1958	.	645;645	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	P	645	ENSP00000434655:H645P;ENSP00000367363:H645P	ENSP00000367363:H645P	H	+	2	0	PCDHA8	140203024	0.976000	0.34144	0.925000	0.36789	0.247000	0.25773	3.643000	0.54374	1.329000	0.45376	0.260000	0.18958	CAC	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	A	NM_018911		140222840	1	no_errors	ENST00000531613	ensembl	human	known	70_37	missense	SNP	0.971	C	C	140222840	A	C	140222840	3	2	165	1	0	0	0	0	1	0	0	0	11554	159	6	5	1936	5	PCDHA8	5	140222840	Missense_Mutation	SNP	A	TCGA-JX-A3Q8-01A-11D-A21Q-09		140222840	40692420	17	31582										
BACH2	60468	genome.wustl.edu	37	chr6	90647929	90647929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cttttgcggcagcgctgggcCgcgatgcggttcttgctgcg	16	12	1	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr6:90647929C>T	ENST00000257749.4	-	8	2684	c.1977G>A	c.(1975-1977)gcG>gcA	p.A659A	BACH2_ENST00000343122.3_Silent_p.A659A|BACH2_ENST00000537989.1_Silent_p.A659A	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	659	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGCGCTGGGCCGCGATGCGGT	0.463																																																	0													94	95	95					6																	90647929		2203	4300	6503	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1977G>A	6.37:g.90647929C>T			E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.A659	ENST00000257749.4	37	c.1977	CCDS5026.1	6																																																																																			BACH2	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP		0.463	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	C	NM_021813		90647929	-1	no_errors	ENST00000257749	ensembl	human	known	70_37	silent	SNP	0.024	T	T	90647929	C	T	90647929	2	4	165	1	0	0	0	0	0	0	0	1	1285	639	23	2		2	BACH2	6	90647929	Silent	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09		90647929	80467138	18	31583										
ABCB4	5244	genome.wustl.edu	37	chr7	87082375	87082375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cctgatctgtcgaccagctgCcaaagtccaaaatgaaactt	7	12	1	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr7:87082375C>T	ENST00000265723.4	-	6	532	c.421G>A	c.(421-423)Gca>Aca	p.A141T	ABCB4_ENST00000453593.1_Missense_Mutation_p.A141T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A141T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A141T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A141T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	141	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CGACCAGCTGCCAAAGTCCAA	0.398																																																	0													92	86	88					7																	87082375		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.421G>A	7.37:g.87082375C>T	ENSP00000265723:p.Ala141Thr		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A141T	ENST00000265723.4	37	c.421	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735646	0.49045	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.76	5.76	0.90799	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.292660	0.38959	N	0.001516	T	0.69682	0.3138	N	0.17082	0.46	0.50313	D	0.999868	P;B;B;B	0.43909	0.821;0.112;0.246;0.29	B;B;B;B	0.39840	0.311;0.052;0.121;0.192	T	0.67768	-0.5585	10	0.18710	T	0.47	-15.3262	19.9693	0.97278	0.0:1.0:0.0:0.0	.	141;141;141;141	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	T	141	ENSP00000352135:A141T;ENSP00000351172:A141T;ENSP00000265723:A141T;ENSP00000392983:A141T;ENSP00000437465:A141T	ENSP00000265723:A141T	A	-	1	0	ABCB4	86920311	0.913000	0.31002	1.000000	0.80357	0.991000	0.79684	1.879000	0.39618	2.725000	0.93324	0.591000	0.81541	GCA	ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.398	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	C	NM_000443		87082375	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	missense	SNP	1.000	T	T	87082375	C	T	87082375	3	4	165	1	0	0	0	0	1	0	0	0	43	739	26	4	3531	4	ABCB4	7	87082375	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09		87082375	72056288	19	31584										
STAR	6770	genome.wustl.edu	37	chr8	38003905	38003905	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gggctggtccaccacgacctCcagccggaacaccttgccca	10	18	0	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr8:38003905C>G	ENST00000276449.4	-	4	813	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	123	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACCACGACCTCCAGCCGGAAC	0.547																																																	0													86	81	83					8																	38003905		2203	4300	6503	SO:0001583	missense	6770			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.367G>C	8.37:g.38003905C>G	ENSP00000276449:p.Glu123Gln		Q16396	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR	p.E123Q	ENST00000276449.4	37	c.367	CCDS6102.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.90|18.90	3.720788|3.720788	0.68959|0.68959	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000276449;ENST00000522753;ENST00000521236|ENST00000522050	T;T|.	0.79141|.	-1.24;-1.24|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Lipid-binding START (3);START-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76948|0.76948	0.4059|0.4059	M|M	0.73319|0.73319	2.225|2.225	0.80722|0.80722	D|D	1|1	P;P|.	0.46327|.	0.798;0.876|.	P;P|.	0.48677|.	0.586;0.586|.	T|T	0.75033|0.75033	-0.3460|-0.3460	10|5	0.72032|.	D|.	0.01|.	-34.3036|-34.3036	19.8968|19.8968	0.96969|0.96969	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	85;123|.	E7ETA9;P49675|.	.;STAR_HUMAN|.	Q|C	123;85;41|101	ENSP00000276449:E123Q;ENSP00000430030:E41Q|.	ENSP00000276449:E123Q|.	E|W	-|-	1|3	0|0	STAR|STAR	38123062|38123062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.487000|7.487000	0.81328|0.81328	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GAG|TGG	STAR	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.547	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAR	HGNC	protein_coding	OTTHUMT00000376990.2	C	NM_000349		38003905	-1	no_errors	ENST00000276449	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38003905	C	G	38003905	3	3	165	1	0	0	0	0	1	0	0	0	15284	864	30	1	506	1	STAR	8	38003905	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09		38003905	108360117	20	31585										
XKR4	114786	genome.wustl.edu	37	chr8	56436066	56436066	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	atcgtccttcactggtgcatCatgaccttctggatcgtcca	8	13	3	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr8:56436066C>A	ENST00000327381.6	+	3	1333	c.1233C>A	c.(1231-1233)atC>atA	p.I411I	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	411						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACTGGTGCATCATGACCTTCT	0.488																																																	0													311	255	274					8																	56436066		2203	4300	6503	SO:0001819	synonymous_variant	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1233C>A	8.37:g.56436066C>A			Q96PZ8	Silent	SNP	pfam_Transport_prot_XK	p.I411	ENST00000327381.6	37	c.1233	CCDS34893.1	8																																																																																			XKR4	-	pfam_Transport_prot_XK		0.488	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56436066	1	no_errors	ENST00000327381	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56436066	C	A	56436066	2	1	165	1	0	0	0	0	0	0	0	1	17464	816	29	3		3	XKR4	8	56436066	Silent	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	18432161	56436066	89927956	21	31586										
ANGPT1	284	genome.wustl.edu	37	chr8	108297059	108297060	+	Frame_Shift_Ins	INS	-	-	GA													0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	tccccagccaatattcaccgINSgagggatttccaaaaccctg					rs201186487		TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr8:108297059_108297060insGA	ENST00000520734.1	-	6	740_741	c.455_456insTC	c.(454-456)tccfs	p.S152fs	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Frame_Shift_Ins_p.S151fs			Q15389	ANGP1_HUMAN	angiopoietin 1	352					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AATATTCACCGGAGGGATTTCC	0.386																																																	0																																										SO:0001589	frameshift_variant	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.454_455dupTC	8.37:g.108297060_108297061dupGA	ENSP00000430750:p.Ser152fs		Q5HYA0	Frame_Shift_Ins	INS	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G353fs	ENST00000520734.1	37	c.1056_1055		8																																																																																			ANGPT1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.386	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	-	NM_001146, NM_139290		108297060	-1	no_errors	ENST00000517746	ensembl	human	known	70_37	frame_shift_ins	INS	0.742:0.996	GA	GA	108297060	-	GA	108297059	7	5	165	1	0	1	1	0	0	0	0	0	610	1103	39	0	452	0	ANGPT1	8	108297059	Frame_Shift_Ins	INS	-	TCGA-JX-A3Q8-01A-11D-A21Q-09	51860993	108297059	38066963	22	31587										
TG	7038	genome.wustl.edu	37	chr8	133885442	133885442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	caccacagacatgatgatttTtgatctggtccacagctaca	7	11	1	4			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr8:133885442T>C	ENST00000220616.4	+	5	654	c.614T>C	c.(613-615)tTt>tCt	p.F205S	TG_ENST00000377869.1_Missense_Mutation_p.F205S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	205	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGATGATTTTTGATCTGGTC	0.562																																																	0													141	106	118					8																	133885442		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.614T>C	8.37:g.133885442T>C	ENSP00000220616:p.Phe205Ser		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.F205S	ENST00000220616.4	37	c.614	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492944	0.84962	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.69040	-0.37;-0.36	5.7	5.7	0.88788	Thyroglobulin type-1 (2);	0.000000	0.64402	D	0.000003	T	0.78419	0.4280	L	0.60455	1.87	0.25975	N	0.982456	D	0.89917	1.0	D	0.69307	0.963	T	0.73275	-0.4034	10	0.87932	D	0	.	15.1511	0.72700	0.0:0.0:0.0:1.0	.	205	P01266	THYG_HUMAN	S	205	ENSP00000367100:F205S;ENSP00000220616:F205S	ENSP00000220616:F205S	F	+	2	0	TG	133954624	1.000000	0.71417	0.753000	0.31225	0.993000	0.82548	7.184000	0.77705	2.189000	0.69895	0.459000	0.35465	TTT	TG	-	superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1		0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	T	NM_003235		133885442	1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.414	C	C	133885442	T	C	133885442	3	2	165	1	0	0	0	0	1	0	0	0	15843	1841	64	5	632	5	TG	8	133885442	Missense_Mutation	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09	25588383	133885442	12478580	23	31588										
FAM73B	84895	genome.wustl.edu	37	chr9	131822885	131822885	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	tgcggctgcgggcggacgatGaggacagcctgacttcagag	17	10	1	3			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr9:131822885G>C	ENST00000358369.4	+	8	1076	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	FAM73B_ENST00000277475.5_Nonstop_Mutation_p.*324S|FAM73B_ENST00000406926.2_Missense_Mutation_p.E284Q	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	284					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GGCGGACGATGAGGACAGCCT	0.657																																																	0													27	25	26					9																	131822885		2203	4296	6499	SO:0001583	missense	84895			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.850G>C	9.37:g.131822885G>C	ENSP00000351138:p.Glu284Gln		Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	pfam_DUF2217	p.E284Q	ENST00000358369.4	37	c.850	CCDS6917.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.40|12.40	1.927486|1.927486	0.34002|0.34002	.|.	.|.	ENSG00000148343|ENSG00000148343	ENST00000358369;ENST00000406926|ENST00000277475	T;T|.	0.23754|.	1.89;1.89|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.103596|.	0.64402|.	D|.	0.000004|.	T|.	0.56673|.	0.2001|.	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	D;B|.	0.54964|.	0.969;0.408|.	P;B|.	0.56916|.	0.809;0.428|.	T|.	0.51317|.	-0.8721|.	10|.	0.21014|.	T|.	0.42|.	-14.9242|-14.9242	15.7813|15.7813	0.78264|0.78264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	348;284|.	B4DZP8;Q7L4E1|.	.;FA73B_HUMAN|.	Q|S	284|324	ENSP00000351138:E284Q;ENSP00000384662:E284Q|.	ENSP00000351138:E284Q|.	E|X	+|+	1|2	0|2	FAM73B|FAM73B	130862706|130862706	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.799000|0.799000	0.45148|0.45148	8.575000|8.575000	0.90766|0.90766	2.407000|2.407000	0.81776|0.81776	0.561000|0.561000	0.74099|0.74099	GAG|TGA	FAM73B	-	pfam_DUF2217		0.657	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7	G	NM_032809		131822885	1	no_errors	ENST00000358369	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131822885	G	C	131822885	3	2	165	1	0	0	0	0	1	0	0	0	5636	1291	45	1	876	1	FAM73B	9	131822885	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09		131822885	9390546	24	31589										
SNAPC4	6621	genome.wustl.edu	37	chr9	139272788	139272788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cactgccatccgcttctgcaGgactttgggagagggcgtgt	14	11	1	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr9:139272788G>A	ENST00000298532.2	-	21	3859	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGCTTCTGCAGGACTTTGGGA	0.632																																																	0													22	25	24					9																	139272788		2195	4296	6491	SO:0001583	missense	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.3491C>T	9.37:g.139272788G>A	ENSP00000298532:p.Pro1164Leu			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P1164L	ENST00000298532.2	37	c.3491	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	g	6.990	0.552766	0.13374	.	.	ENSG00000165684	ENST00000298532	T	0.23950	1.88	3.18	2.15	0.27550	.	2.239790	0.03085	U	0.158944	T	0.20292	0.0488	L	0.36672	1.1	0.09310	N	1	P	0.39480	0.675	B	0.30943	0.122	T	0.27297	-1.0078	10	0.34782	T	0.22	.	9.7967	0.40740	0.0:0.0:0.6847:0.3152	.	1164	Q5SXM2	SNPC4_HUMAN	L	1164	ENSP00000298532:P1164L	ENSP00000298532:P1164L	P	-	2	0	SNAPC4	138392609	0.033000	0.19621	0.002000	0.10522	0.053000	0.15095	1.376000	0.34306	1.630000	0.50440	0.556000	0.70494	CCT	SNAPC4	-	NULL		0.632	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	G	NM_003086		139272788	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	missense	SNP	0.000	A	A	139272788	G	A	139272788	3	1	165	1	0	0	0	0	1	0	0	0	14867	1000	35	4	926	4	SNAPC4	9	139272788	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	7449903	139272788	1940643	25	31590										
ABCA2	20	genome.wustl.edu	37	chr9	139908007	139908007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	aggtgacaggaccagcggggGcagatcacctggcagggcga	18	10	1	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr9:139908007G>A	ENST00000371605.3	-	28	4600	c.4453C>T	c.(4453-4455)Ccc>Tcc	p.P1485S	ABCA2_ENST00000341511.6_Missense_Mutation_p.P1486S|ABCA2_ENST00000265662.5_Missense_Mutation_p.P1486S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1485					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCAGCGGGGGCAGATCACCT	0.672																																																	0													39	49	45					9																	139908007		2009	4139	6148	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4453C>T	9.37:g.139908007G>A	ENSP00000360666:p.Pro1485Ser		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P1486S	ENST00000371605.3	37	c.4456		9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104877	0.77096	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.94280	-3.39;-3.39;-3.39	4.86	4.86	0.63082	.	0.131238	0.52532	N	0.000074	D	0.96503	0.8859	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.981	D	0.97181	0.9851	10	0.87932	D	0	.	17.9576	0.89074	0.0:0.0:1.0:0.0	.	1485;1516	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	S	1486;1485;1516;1486	ENSP00000265662:P1486S;ENSP00000360666:P1485S;ENSP00000344155:P1486S	ENSP00000265662:P1486S	P	-	1	0	ABCA2	139027828	1.000000	0.71417	0.996000	0.52242	0.096000	0.18686	6.949000	0.75971	2.235000	0.73313	0.484000	0.47621	CCC	ABCA2	-	NULL		0.672	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		G	NM_001606		139908007	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139908007	G	A	139908007	3	1	165	1	0	0	0	0	1	0	0	0	32	1203	42	4	2938	4	ABCA2	9	139908007	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	635219	139908007	1305424	26	31591										
ARL5B	221079	genome.wustl.edu	37	chr10	18961578	18961578	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ttcttgttgttgatagcattGacagggaacgactagctatt	10	6	1	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr10:18961578G>T	ENST00000377275.3	+	4	516	c.283G>T	c.(283-285)Gac>Tac	p.D95Y		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	95					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						TGATAGCATTGACAGGGAACG	0.299																																																	0													98	103	101					10																	18961578		2203	4294	6497	SO:0001583	missense	221079			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23052	protein-coding gene	gene with protein product		608909	"ADP-ribosylation factor-like 8"	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.283G>T	10.37:g.18961578G>T	ENSP00000366487:p.Asp95Tyr			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D95Y	ENST00000377275.3	37	c.283	CCDS7131.1	10	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395113	0.83011	.	.	ENSG00000165997	ENST00000377275	D	0.85013	-1.93	5.91	5.01	0.66863	Small GTP-binding protein domain (1);	0.042723	0.85682	D	0.000000	D	0.96262	0.8781	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98065	1.0395	10	0.87932	D	0	-20.9561	14.9978	0.71446	0.0683:0.0:0.9317:0.0	.	95	Q96KC2	ARL5B_HUMAN	Y	95	ENSP00000366487:D95Y	ENSP00000366487:D95Y	D	+	1	0	ARL5B	19001584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.387000	0.73191	1.507000	0.48752	0.579000	0.79373	GAC	ARL5B	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.299	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5B	HGNC	protein_coding	OTTHUMT00000047078.1	G	NM_178815		18961578	1	no_errors	ENST00000377275	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18961578	G	T	18961578	3	4	165	1	0	0	0	0	1	0	0	0	941	1290	45	3	297	3	ARL5B	10	18961578	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09		18961578	116573169	27	31592										
LSP1	4046	genome.wustl.edu	37	chr11	1902741	1902741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ggtcccagaggccagagcagCggcagcagcacgagggggcg	19	12	0	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr11:1902741C>T	ENST00000311604.3	+	3	446	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.R219W|LSP1_ENST00000406638.2_Missense_Mutation_p.R29W|LSP1_ENST00000405957.2_Missense_Mutation_p.R29W	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	91					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GCCAGAGCAGCGGCAGCAGCA	0.692																																																	0													19	21	20					11																	1902741		2182	4274	6456	SO:0001583	missense	4046			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.271C>T	11.37:g.1902741C>T	ENSP00000308383:p.Arg91Trp		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Lymphspecific	p.R91W	ENST00000311604.3	37	c.271	CCDS31334.1	11	.	.	.	.	.	.	.	.	.	.	.	21.1	4.092788	0.76756	.	.	ENSG00000130592	ENST00000311604;ENST00000421485;ENST00000446808;ENST00000381775;ENST00000405957;ENST00000451814;ENST00000457279;ENST00000429923;ENST00000406638;ENST00000418975;ENST00000417766;ENST00000432093	T;T;T;T;T;T;T;T;T;T;T;T	0.59638	1.16;0.9;1.06;1.15;1.23;0.85;1.21;0.95;1.23;0.25;1.26;1.26	3.4	1.29	0.21616	.	0.899723	0.08983	N	0.865549	T	0.67951	0.2948	L	0.56769	1.78	0.22468	N	0.99907	D;D	0.89917	1.0;0.999	D;P	0.67548	0.952;0.791	T	0.53507	-0.8429	10	0.87932	D	0	-11.8726	7.06	0.25121	0.17:0.7246:0.0:0.1054	.	219;91	E9PFP3;P33241	.;LSP1_HUMAN	W	91;29;29;219;29;29;82;74;29;109;29;29	ENSP00000308383:R91W;ENSP00000411191:R29W;ENSP00000402543:R29W;ENSP00000371194:R219W;ENSP00000383932:R29W;ENSP00000414106:R29W;ENSP00000400346:R82W;ENSP00000400999:R74W;ENSP00000384022:R29W;ENSP00000403460:R109W;ENSP00000416363:R29W;ENSP00000412405:R29W	ENSP00000308383:R91W	R	+	1	2	LSP1	1859317	0.000000	0.05858	0.049000	0.19019	0.573000	0.36030	0.456000	0.21859	0.784000	0.33661	0.394000	0.25966	CGG	LSP1	-	prints_Lymphspecific		0.692	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	HGNC	protein_coding	OTTHUMT00000034045.3	C	NM_002339		1902741	1	no_errors	ENST00000311604	ensembl	human	known	70_37	missense	SNP	0.473	T	T	1902741	C	T	1902741	3	4	165	1	0	0	0	0	1	0	0	0	9086	759	27	2	281	2	LSP1	11	1902741	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09		1902741	133103775	28	31593										
OR51B4	79339	genome.wustl.edu	37	chr11	5322698	5322698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cacaatatgggtagcagtagAgtgaaagaattatgggcaaa	12	4	0	3			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr11:5322698A>G	ENST00000380224.1	-	1	528	c.479T>C	c.(478-480)cTc>cCc	p.L160P	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	160					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGCAGTAGAGTGAAAGAAT	0.443																																																	0													131	118	123					11																	5322698		2201	4297	6498	SO:0001583	missense	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.479T>C	11.37:g.5322698A>G	ENSP00000369573:p.Leu160Pro		A7MAV5|Q6NTD7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L160P	ENST00000380224.1	37	c.479	CCDS7757.1	11	.	.	.	.	.	.	.	.	.	.	A	10.48	1.360739	0.24598	.	.	ENSG00000183251	ENST00000380224	T	0.00130	8.69	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000179	T	0.00666	0.0022	H	0.96080	3.765	0.24012	N	0.996179	D	0.89917	1.0	D	0.97110	1.0	T	0.23797	-1.0178	10	0.87932	D	0	.	8.2547	0.31748	0.9111:0.0:0.0889:0.0	.	160	Q9Y5P0	O51B4_HUMAN	P	160	ENSP00000369573:L160P	ENSP00000369573:L160P	L	-	2	0	OR51B4	5279274	0.061000	0.20836	0.104000	0.21259	0.023000	0.10783	2.086000	0.41643	2.083000	0.62718	0.533000	0.62120	CTC	OR51B4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B4	HGNC	protein_coding	OTTHUMT00000142956.2	A	NM_033179		5322698	-1	no_errors	ENST00000380224	ensembl	human	known	70_37	missense	SNP	0.071	G	G	5322698	A	G	5322698	3	3	165	1	0	0	0	0	1	0	0	0	11114	304	11	5	456	5	OR51B4	11	5322698	Missense_Mutation	SNP	A	TCGA-JX-A3Q8-01A-11D-A21Q-09	3419957	5322698	129683818	29	31594										
SAA2	6289	genome.wustl.edu	37	chr11	18267518	18267518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ggcagcatcatagttcccccGagcatggaagtatttgtctg	11	10	2	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr11:18267518G>A	ENST00000526900.1	-	3	352	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	SAA2_ENST00000528349.1_Missense_Mutation_p.R57W|SAA2_ENST00000529528.1_Missense_Mutation_p.R57W|SAA2_ENST00000530400.1_Missense_Mutation_p.R57W|RNA5SP333_ENST00000363466.1_RNA|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Missense_Mutation_p.R57W|SAA2_ENST00000256733.4_Missense_Mutation_p.R57W			P0DJI9	SAA2_HUMAN	serum amyloid A2	57					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						TAGTTCCCCCGAGCATGGAAG	0.557																																																	0													74	69	71					11																	18267518		2199	4290	6489	SO:0001583	missense	6289			M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.169C>T	11.37:g.18267518G>A	ENSP00000436126:p.Arg57Trp		G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A	p.R57W	ENST00000526900.1	37	c.169	CCDS7833.1	11	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439006	0.25900	.	.	ENSG00000134339	ENST00000414546;ENST00000530400;ENST00000528349;ENST00000256733;ENST00000529528;ENST00000526900	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	5.09	3.19	0.36642	.	0.000000	0.64402	D	0.000001	T	0.38026	0.1025	.	.	.	0.40252	D	0.978085	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.24548	-1.0157	9	0.62326	D	0.03	.	14.4934	0.67667	0.0:0.0:0.7344:0.2656	.	57;57	G3XAK9;E9PR14	.;.	W	57	ENSP00000416716:R57W;ENSP00000432370:R57W;ENSP00000435659:R57W;ENSP00000256733:R57W;ENSP00000437162:R57W;ENSP00000436126:R57W	ENSP00000256733:R57W	R	-	1	2	SAA2	18224094	1.000000	0.71417	0.987000	0.45799	0.258000	0.26162	3.248000	0.51430	0.267000	0.21916	-0.824000	0.03097	CGG	SAA2	-	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A		0.557	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SAA2	HGNC	protein_coding	OTTHUMT00000389983.1	G	NM_030754		18267518	-1	no_errors	ENST00000256733	ensembl	human	known	70_37	missense	SNP	0.987	A	A	18267518	G	A	18267518	3	1	165	1	0	0	0	0	1	0	0	0	13829	1057	37	1	233	1	SAA2	11	18267518	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	12944820	18267518	116738998	30	31595										
SAA1	6288	genome.wustl.edu	37	chr11	18290819	18290819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cagacaaatacttccatgctCgggggaactatgatgctgcc	10	11	0	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr11:18290819C>T	ENST00000405158.2	+	3	353	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RNA5SP334_ENST00000364825.1_RNA|SAA1_ENST00000532858.1_Missense_Mutation_p.R57W|SAA1_ENST00000356524.4_Missense_Mutation_p.R57W	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	57					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CTTCCATGCTCGGGGGAACTA	0.557																																																	0													26	26	26					11																	18290819		2197	4271	6468	SO:0001583	missense	6288			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"Endogenous ligands"	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.169C>T	11.37:g.18290819C>T	ENSP00000384906:p.Arg57Trp		P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A	p.R57W	ENST00000405158.2	37	c.169	CCDS7835.1	11	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940860	0.34283	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.13307	2.6;2.6;2.6	3.23	2.31	0.28768	.	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	M	0.90082	3.085	0.39115	D	0.961548	D;P	0.89917	1.0;0.696	D;B	0.91635	0.999;0.344	T	0.48581	-0.9023	10	0.62326	D	0.03	.	9.8917	0.41294	0.203:0.797:0.0:0.0	.	57;57	D3DQX7;P02735	.;SAA_HUMAN	W	57	ENSP00000348918:R57W;ENSP00000436866:R57W;ENSP00000384906:R57W	ENSP00000348918:R57W	R	+	1	2	SAA1	18247395	0.986000	0.35501	0.989000	0.46669	0.408000	0.30992	0.917000	0.28665	0.930000	0.37217	-0.437000	0.05841	CGG	SAA1	-	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A		0.557	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SAA1	HGNC	protein_coding	OTTHUMT00000395864.1	C	NM_199161		18290819	1	no_errors	ENST00000356524	ensembl	human	known	70_37	missense	SNP	0.999	T	T	18290819	C	T	18290819	3	4	165	1	0	0	0	0	1	0	0	0	13828	875	31	1	175	1	SAA1	11	18290819	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	23301	18290819	116715697	31	31596										
OR5D14	219436	genome.wustl.edu	37	chr11	55563486	55563486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gctggtggctgggtcatatcTctggggcatgtttggcccct	15	10	2	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr11:55563486T>C	ENST00000335605.1	+	1	455	c.455T>C	c.(454-456)cTc>cCc	p.L152P		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGGTCATATCTCTGGGGCATG	0.498																																																	0													134	128	130					11																	55563486		2200	4296	6496	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.455T>C	11.37:g.55563486T>C	ENSP00000334456:p.Leu152Pro		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L152P	ENST00000335605.1	37	c.455	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	t	2.731	-0.264380	0.05754	.	.	ENSG00000186113	ENST00000335605	T	0.45276	0.9	5.08	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.595915	0.13966	N	0.350519	T	0.53302	0.1788	M	0.92367	3.3	0.18873	N	0.999989	B	0.15719	0.014	B	0.24394	0.053	T	0.54873	-0.8228	10	0.87932	D	0	-10.5069	8.1775	0.31292	0.0:0.1687:0.0:0.8313	.	152	Q8NGL3	OR5DE_HUMAN	P	152	ENSP00000334456:L152P	ENSP00000334456:L152P	L	+	2	0	OR5D14	55320062	0.000000	0.05858	0.063000	0.19743	0.009000	0.06853	-0.380000	0.07427	0.750000	0.32877	0.523000	0.50628	CTC	OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	T	NM_001004735		55563486	1	no_errors	ENST00000335605	ensembl	human	known	70_37	missense	SNP	0.020	C	C	55563486	T	C	55563486	3	2	165	1	0	0	0	0	1	0	0	0	11179	1551	54	5	457	5	OR5D14	11	55563486	Missense_Mutation	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09	37272667	55563486	79443030	32	31597										
OR5D16	390144	genome.wustl.edu	37	chr11	55606424	55606424	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ccccatgtattttttcctcaAccacctctcctttgtggatt	4	14	2	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr11:55606424A>C	ENST00000378396.1	+	1	197	c.197A>C	c.(196-198)aAc>aCc	p.N66T		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTTTTCCTCAACCACCTCTCC	0.428																																																	0													186	183	184					11																	55606424		2201	4296	6497	SO:0001583	missense	390144			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.197A>C	11.37:g.55606424A>C	ENSP00000367649:p.Asn66Thr		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.N66T	ENST00000378396.1	37	c.197	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	12.13	1.846719	0.32606	.	.	ENSG00000205029	ENST00000378396	T	0.01963	4.53	4.05	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	N	0.02315	-0.6	0.21675	N	0.999593	B	0.06786	0.001	B	0.06405	0.002	T	0.47959	-0.9076	9	0.66056	D	0.02	-27.8965	3.8686	0.09027	0.092:0.1615:0.58:0.1665	.	66	Q8NGK9	OR5DG_HUMAN	T	66	ENSP00000367649:N66T	ENSP00000367649:N66T	N	+	2	0	OR5D16	55363000	0.000000	0.05858	0.928000	0.36995	0.973000	0.67179	0.304000	0.19228	0.321000	0.23259	-0.317000	0.08691	AAC	OR5D16	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	A	NM_001005496		55606424	1	no_errors	ENST00000378396	ensembl	human	known	70_37	missense	SNP	0.992	C	C	55606424	A	C	55606424	3	2	165	1	0	0	0	0	1	0	0	0	11180	43	2	5	199	5	OR5D16	11	55606424	Missense_Mutation	SNP	A	TCGA-JX-A3Q8-01A-11D-A21Q-09	42938	55606424	79400092	33	31598										
OR5D16	390144	genome.wustl.edu	37	chr11	55607128	55607128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	tgagaaataaagatgttaagGatgcaatccgaaaaataatc	8	4	0	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr11:55607128G>A	ENST00000378396.1	+	1	901	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AGATGTTAAGGATGCAATCCG	0.338																																																	0													37	38	37					11																	55607128		2201	4296	6497	SO:0001583	missense	390144			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.901G>A	11.37:g.55607128G>A	ENSP00000367649:p.Asp301Asn		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D301N	ENST00000378396.1	37	c.901	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	4.427	0.078962	0.08533	.	.	ENSG00000205029	ENST00000378396	T	0.35973	1.28	4.43	1.47	0.22746	.	.	.	.	.	T	0.16128	0.0388	N	0.10782	0.045	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.33624	-0.9861	9	0.09084	T	0.74	-7.3807	6.1267	0.20184	0.4176:0.0:0.5824:0.0	.	301	Q8NGK9	OR5DG_HUMAN	N	301	ENSP00000367649:D301N	ENSP00000367649:D301N	D	+	1	0	OR5D16	55363704	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.498000	0.22530	0.448000	0.26722	0.537000	0.68136	GAT	OR5D16	-	NULL		0.338	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	G	NM_001005496		55607128	1	no_errors	ENST00000378396	ensembl	human	known	70_37	missense	SNP	0.001	A	A	55607128	G	A	55607128	3	1	165	1	0	0	0	0	1	0	0	0	11180	1174	41	1	903	1	OR5D16	11	55607128	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	704	55607128	79399388	34	31599										
GRAMD1B	57476	genome.wustl.edu	37	chr11	123477438	123477438	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cgctcctgtgaactccccttCactggacttcaatgacaatg	7	14	2	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr11:123477438C>T	ENST00000529750.1	+	10	1343	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S339L|GRAMD1B_ENST00000450171.2_5'Flank|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S346L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	339						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		AACTCCCCTTCACTGGACTTC	0.542																																																	0													64	66	66					11																	123477438		1995	4154	6149	SO:0001583	missense	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1016C>T	11.37:g.123477438C>T	ENSP00000436500:p.Ser339Leu		Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.S339L	ENST00000529750.1	37	c.1016	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321801	0.81580	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.37058	1.62;1.63;1.62;1.62;1.22	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.47716	1.5	0.80722	D	1	P;P;P;B	0.40970	0.552;0.734;0.666;0.415	B;P;B;B	0.45310	0.146;0.476;0.162;0.206	T	0.25012	-1.0144	10	0.44086	T	0.13	.	18.8443	0.92198	0.0:1.0:0.0:0.0	.	299;346;339;346	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	L	346;346;339;339;299;335	ENSP00000402457:S346L;ENSP00000325628:S339L;ENSP00000436500:S339L;ENSP00000432987:S299L;ENSP00000434214:S335L	ENSP00000325628:S339L	S	+	2	0	GRAMD1B	122982648	1.000000	0.71417	0.720000	0.30636	0.850000	0.48378	7.755000	0.85180	2.437000	0.82529	0.462000	0.41574	TCA	GRAMD1B	-	NULL		0.542	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	C	XM_370660		123477438	1	no_errors	ENST00000322282	ensembl	human	known	70_37	missense	SNP	0.998	T	T	123477438	C	T	123477438	3	4	165	1	0	0	0	0	1	0	0	0	6768	838	29	1	1054	1	GRAMD1B	11	123477438	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	67870310	123477438	11529078	35	31600										
TBRG1	84897	genome.wustl.edu	37	chr11	124496383	124496383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	tttcagttctgaagaaaacaTgcaagaaaaagaaaatggcg	9	5	2	4			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr11:124496383T>C	ENST00000441174.3	+	4	673	c.469T>C	c.(469-471)Tgc>Cgc	p.C157R	TBRG1_ENST00000375005.4_Intron|TBRG1_ENST00000438907.2_Intron	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	157	Lys-rich.				cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		GAAGAAAACATGCAAGAAAAA	0.527																																																	0													75	75	75					11																	124496383		692	1591	2283	SO:0001583	missense	84897			AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"nuclear interactor of ARF and MDM2"	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.469T>C	11.37:g.124496383T>C	ENSP00000409016:p.Cys157Arg		Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Missense_Mutation	SNP	pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C	p.C157R	ENST00000441174.3	37	c.469	CCDS8448.2	11	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447810	0.26074	.	.	ENSG00000154144	ENST00000441174	T	0.79554	-1.28	5.69	4.54	0.55810	.	0.183046	0.48767	D	0.000161	T	0.63861	0.2547	N	0.14661	0.345	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	T	0.54964	-0.8214	10	0.20519	T	0.43	-1.9269	10.3141	0.43725	0.1476:0.0:0.0:0.8524	.	157	Q3YBR2	TBRG1_HUMAN	R	157	ENSP00000409016:C157R	ENSP00000409016:C157R	C	+	1	0	TBRG1	124001593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.162000	0.50755	0.958000	0.37956	0.533000	0.62120	TGC	TBRG1	-	NULL		0.527	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	HGNC	protein_coding	OTTHUMT00000329057.2	T	NM_032811		124496383	1	no_errors	ENST00000441174	ensembl	human	known	70_37	missense	SNP	1.000	C	C	124496383	T	C	124496383	3	2	165	1	0	0	0	0	1	0	0	0	15678	1464	51	5	483	5	TBRG1	11	124496383	Missense_Mutation	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09	1018945	124496383	10510133	36	31601										
RAD51AP1	10635	genome.wustl.edu	37	chr12	4657294	4657294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cagtagtaaaatagaaacaaTgaataagtctcctcatatct	5	7	3	2	rs367934651		TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr12:4657294T>C	ENST00000544927.1	+	5	366	c.356T>C	c.(355-357)aTg>aCg	p.M119T	RAD51AP1_ENST00000543041.1_Start_Codon_SNP_p.M1T|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.M136T|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.M119T|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.M136T					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			ATAGAAACAATGAATAAGTCT	0.274																																																	0													76	86	82					12																	4657294		2201	4298	6499	SO:0001583	missense	10635			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.356T>C	12.37:g.4657294T>C	ENSP00000446296:p.Met119Thr			Missense_Mutation	SNP	NULL	p.M136T	ENST00000544927.1	37	c.407		12	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057735	0.36277	.	.	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.86	-0.184	0.13280	.	0.942214	0.09037	N	0.857909	T	0.09949	0.0244	N	0.04203	-0.255	0.80722	D	1	B;B;B;B	0.32467	0.372;0.003;0.003;0.002	B;B;B;B	0.26864	0.074;0.002;0.002;0.001	T	0.33420	-0.9869	10	0.09338	T	0.73	3.7565	3.8955	0.09138	0.0:0.3127:0.1901:0.4971	.	1;136;136;119	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	T	136;1;136;119;119	ENSP00000323750:M136T;ENSP00000439960:M1T;ENSP00000228843:M136T;ENSP00000309479:M119T;ENSP00000446296:M119T	ENSP00000228843:M136T	M	+	2	0	RAD51AP1	4527555	0.000000	0.05858	0.000000	0.03702	0.622000	0.37654	-0.101000	0.10973	-0.175000	0.10725	0.482000	0.46254	ATG	RAD51AP1	-	NULL		0.274	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	RAD51AP1	HGNC	protein_coding	OTTHUMT00000399208.1	T	NM_006479		4657294	1	no_errors	ENST00000228843	ensembl	human	known	70_37	missense	SNP	0.000	C	C	4657294	T	C	4657294	3	2	165	1	0	0	0	0	1	0	0	0	13016	1464	51	5	429	5	RAD51AP1	12	4657294	Missense_Mutation	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09		4657294	129194601	37	31602										
GXYLT1	283464	genome.wustl.edu	37	chr12	42512938	42512938	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cacaggcaactacagctagaTgcattttctcaacaggctgt	8	11	1	1	rs200822565		TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr12:42512938T>A	ENST00000398675.3	-	3	582	c.350A>T	c.(349-351)cAt>cTt	p.H117L	GXYLT1_ENST00000280876.6_Missense_Mutation_p.H86L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	117					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.H117L(1)|p.H86L(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TACAGCTAGATGCATTTTCTC	0.348																																																	2	Substitution - Missense(2)	liver(2)											98	89	91					12																	42512938		1891	4131	6022	SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.350A>T	12.37:g.42512938T>A	ENSP00000381666:p.His117Leu		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.H117L	ENST00000398675.3	37	c.350	CCDS41772.1	12	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926250	0.92319	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.25749	1.78;1.78	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.86805	2.84	0.80722	D	1	P;D	0.56035	0.937;0.974	P;P	0.57620	0.805;0.824	T	0.61579	-0.7034	10	0.72032	D	0.01	8.6287	15.6136	0.76748	0.0:0.0:0.0:1.0	.	86;117	Q4G148-2;Q4G148	.;GXLT1_HUMAN	L	117;86	ENSP00000381666:H117L;ENSP00000280876:H86L	ENSP00000280876:H86L	H	-	2	0	GXYLT1	40799205	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.428000	0.80296	2.097000	0.63578	0.482000	0.46254	CAT	GXYLT1	-	NULL		0.348	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	T	XM_290597		42512938	-1	no_errors	ENST00000398675	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42512938	T	A	42512938	3	1	165	1	0	0	0	0	1	0	0	0	6923	1464	51	5	996	5	GXYLT1	12	42512938	Missense_Mutation	SNP	T	TCGA-JX-A3Q8-01A-11D-A21Q-09	37855644	42512938	91338957	38	31603										
PDE1B	5153	genome.wustl.edu	37	chr12	54968932	54968932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gctccatgctgctgacatcaGccacccaaccaagcagtggt	9	15	1	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr12:54968932G>A	ENST00000243052.3	+	11	1551	c.1115G>A	c.(1114-1116)aGc>aAc	p.S372N	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.S331N|PDE1B_ENST00000550620.1_Missense_Mutation_p.S352N	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	372	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCTGACATCAGCCACCCAACC	0.562																																																	0													137	121	127					12																	54968932		2203	4300	6503	SO:0001583	missense	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1115G>A	12.37:g.54968932G>A	ENSP00000243052:p.Ser372Asn		Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.S372N	ENST00000243052.3	37	c.1115	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.130482	0.94473	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.89552	-2.53;-2.53;-2.53	5.25	5.25	0.73442	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92315	0.7562	M	0.84326	2.69	0.80722	D	1	B;P	0.39551	0.264;0.678	B;P	0.47015	0.263;0.534	D	0.93014	0.6434	10	0.62326	D	0.03	.	16.7112	0.85386	0.0:0.0:1.0:0.0	.	352;372	Q01064-2;Q01064	.;PDE1B_HUMAN	N	372;331;352	ENSP00000243052:S372N;ENSP00000442559:S331N;ENSP00000448519:S352N	ENSP00000243052:S372N	S	+	2	0	PDE1B	53255199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.699000	0.98703	2.618000	0.88619	0.561000	0.74099	AGC	PDE1B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.562	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	G			54968932	1	no_errors	ENST00000243052	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54968932	G	A	54968932	3	1	165	1	0	0	0	0	1	0	0	0	11658	971	34	4	1210	4	PDE1B	12	54968932	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	12455994	54968932	78882963	39	31604										
IL26	55801	genome.wustl.edu	37	chr12	68619364	68619364	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ttaagcagagcctaatacttActggaatcgttgctttgagc	9	8	0	2			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr12:68619364A>G	ENST00000229134.4	-	1	236		c.e1+1		IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26						cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CCTAATACTTACTGGAATCGT	0.388																																																	0													208	191	196					12																	68619364		2203	4300	6503	SO:0001630	splice_region_variant	55801			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.171+1T>C	12.37:g.68619364A>G				Splice_Site	SNP	-	e1+2	ENST00000229134.4	37	c.171+2	CCDS8981.1	12	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178340	0.57692	.	.	ENSG00000111536	ENST00000229134	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.731	0.51737	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL26	66905631	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.979000	0.63806	1.862000	0.54008	0.379000	0.24179	.	IL26	-	-		0.388	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL26	HGNC	protein_coding	OTTHUMT00000402302.1	A	NM_018402	Intron	68619364	-1	no_errors	ENST00000229134	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	68619364	A	G	68619364	5	3	165	1	0	0	0	0	0	0	1	0	7699	405	14	5	362	5	IL26	12	68619364	Splice_Site	SNP	A	TCGA-JX-A3Q8-01A-11D-A21Q-09	13650432	68619364	65232531	40	31605										
PAPLN	89932	genome.wustl.edu	37	chr14	73719422	73719422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	accccgaccacatgtgccagCgccagccacggccagctgac	10	19	0	1	rs556246074		TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr14:73719422C>T	ENST00000554301.1	+	10	1196	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	PAPLN_ENST00000340738.5_Missense_Mutation_p.R318C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R345C|PAPLN_ENST00000381166.3_Missense_Mutation_p.R345C|PAPLN_ENST00000427855.1_Missense_Mutation_p.R345C			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	345	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CATGTGCCAGCGCCAGCCACG	0.662													C|||	1	0.000199681	8e-04	0	5008	,	,		17891	0		0	False		,,,				2504	0																0													78	79	79					14																	73719422		2203	4300	6503	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1033C>T	14.37:g.73719422C>T	ENSP00000451803:p.Arg345Cys		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.R345C	ENST00000554301.1	37	c.1033		14	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497667	0.44455	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.22	4.32	0.51571	.	.	.	.	.	T	0.57169	0.2035	L	0.36672	1.1	0.28758	N	0.901086	D;D;D	0.71674	0.998;0.998;0.994	P;P;P	0.54372	0.635;0.75;0.711	T	0.52518	-0.8565	9	0.54805	T	0.06	.	8.304	0.32032	0.308:0.4563:0.2357:0.0	.	345;345;318	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	C	318;345;345;345;345	ENSP00000345395:R318C;ENSP00000403403:R345C;ENSP00000370558:R345C;ENSP00000451803:R345C;ENSP00000451729:R345C	ENSP00000216658:R345C	R	+	1	0	PAPLN	72789175	0.961000	0.32948	0.760000	0.31359	0.285000	0.27093	2.812000	0.47994	1.152000	0.42452	0.462000	0.41574	CGC	PAPLN	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.662	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	C	NM_173462		73719422	1	no_errors	ENST00000427855	ensembl	human	known	70_37	missense	SNP	0.496	T	T	73719422	C	T	73719422	3	4	165	1	0	0	0	0	1	0	0	0	11452	768	27	2	986	2	PAPLN	14	73719422	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09		73719422	33630118	41	31606										
CTDSPL2	51496	genome.wustl.edu	37	chr15	44783040	44783040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gctgaagaaatagtaaaacaActtgatatggaacaggtgga	11	4	0	3			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr15:44783040A>G	ENST00000260327.4	+	5	1097	c.534A>G	c.(532-534)caA>caG	p.Q178Q	CTDSPL2_ENST00000558966.1_Silent_p.Q178Q|CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558373.1_Intron	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	178							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TAGTAAAACAACTTGATATGG	0.393																																																	0													120	111	114					15																	44783040		2198	4298	6496	SO:0001819	synonymous_variant	51496			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.534A>G	15.37:g.44783040A>G			Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.Q178	ENST00000260327.4	37	c.534	CCDS10110.1	15																																																																																			CTDSPL2	-	NULL		0.393	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	A	NM_016396		44783040	1	no_errors	ENST00000260327	ensembl	human	known	70_37	silent	SNP	1.000	G	G	44783040	A	G	44783040	2	3	165	1	0	0	0	0	0	0	0	1	4011	40	2	5		5	CTDSPL2	15	44783040	Silent	SNP	A	TCGA-JX-A3Q8-01A-11D-A21Q-09		44783040	57748352	42	31607										
KIAA0101	9768	genome.wustl.edu	37	chr15	64669055	64669055	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ccaattcctttttgccacttGggagttgggcgcacgcaaac	10	12	0	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr15:64669055G>T	ENST00000300035.4	-	3	315	c.177C>A	c.(175-177)ccC>ccA	p.P59P	KIAA0101_ENST00000558008.1_Silent_p.P59P|KIAA0101_ENST00000559519.1_Silent_p.P32P|KIAA0101_ENST00000380258.2_Intron	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	59					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						TTTGCCACTTGGGAGTTGGGC	0.408																																																	0													50	51	51					15																	64669055		2203	4300	6503	SO:0001819	synonymous_variant	9768			D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.177C>A	15.37:g.64669055G>T			A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	NULL	p.P60Q	ENST00000300035.4	37	c.179	CCDS10193.1	15																																																																																			KIAA0101	-	NULL		0.408	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0101	HGNC	protein_coding	OTTHUMT00000256603.1	G	NM_014736		64669055	-1	no_errors	ENST00000560234	ensembl	human	putative	70_37	missense	SNP	0.990	T	T	64669055	G	T	64669055	2	4	165	1	0	0	0	0	0	0	0	1	8175	1335	47	4		4	KIAA0101	15	64669055	Silent	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	19886015	64669055	37862337	43	31608										
TBL3	10607	genome.wustl.edu	37	chr16	2027624	2027624	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	tgcactgcagccggctggacGaccacgccctcactggggcc	13	17	1	0	rs532426427		TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr16:2027624G>C	ENST00000568546.1	+	17	1980	c.1852G>C	c.(1852-1854)Gac>Cac	p.D618H		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	618					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCGGCTGGACGACCACGCCCT	0.647																																					Melanoma(118;616 1651 35077 38081 48633)												0													36	33	34					16																	2027624		2171	4261	6432	SO:0001583	missense	10607			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1852G>C	16.37:g.2027624G>C	ENSP00000454836:p.Asp618His		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D618H	ENST00000568546.1	37	c.1852	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533451	0.45073	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.54	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.136463	0.64402	D	0.000004	T	0.69780	0.3149	M	0.64260	1.97	0.43874	D	0.996487	P;D	0.65815	0.942;0.995	P;D	0.65010	0.879;0.931	T	0.70439	-0.4871	9	0.51188	T	0.08	-32.8977	12.8808	0.58015	0.0783:0.0:0.9217:0.0	.	380;618	A0JLS5;Q12788	.;TBL3_HUMAN	H	618	.	ENSP00000331815:D618H	D	+	1	0	TBL3	1967625	1.000000	0.71417	0.125000	0.21846	0.193000	0.23685	3.153000	0.50685	2.601000	0.87937	0.561000	0.74099	GAC	TBL3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.647	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	G	NM_006453		2027624	1	no_errors	ENST00000568546	ensembl	human	known	70_37	missense	SNP	0.696	C	C	2027624	G	C	2027624	3	2	165	1	0	0	0	0	1	0	0	0	15673	1058	37	1	1918	1	TBL3	16	2027624	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09		2027624	88327129	44	31609										
DNAH3	55567	genome.wustl.edu	37	chr16	21145629	21145629	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	catcatggggttcaccgtgtGcagatgctcctcgttccact	10	13	2	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr16:21145629G>T	ENST00000261383.3	-	7	1032	c.1033C>A	c.(1033-1035)Cac>Aac	p.H345N	DNAH3_ENST00000415178.1_Missense_Mutation_p.H345N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	345	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCACCGTGTGCAGATGCTCC	0.532																																																	0													113	105	107					16																	21145629		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1033C>A	16.37:g.21145629G>T	ENSP00000261383:p.His345Asn		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.H345N	ENST00000261383.3	37	c.1033	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296165	0.23650	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22336	1.96;2.12	5.85	-0.00454	0.14021	.	0.203493	0.41001	D	0.000979	T	0.12561	0.0305	L	0.33485	1.01	0.23095	N	0.998302	B;B	0.34264	0.0;0.446	B;B	0.33750	0.001;0.169	T	0.26258	-1.0108	10	0.22109	T	0.4	.	8.1269	0.31003	0.6299:0.0:0.3701:0.0	.	345;316	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	N	345;345;316	ENSP00000261383:H345N;ENSP00000394245:H345N	ENSP00000261383:H345N	H	-	1	0	DNAH3	21053130	1.000000	0.71417	0.911000	0.35937	0.777000	0.43975	2.238000	0.43070	0.116000	0.18110	-0.137000	0.14449	CAC	DNAH3	-	NULL		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21145629	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	0.929	T	T	21145629	G	T	21145629	3	4	165	1	0	0	0	0	1	0	0	0	4613	1319	46	4	11540	4	DNAH3	16	21145629	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	19118005	21145629	69209124	45	31610										
TAF15	8148	genome.wustl.edu	37	chr17	34169419	34169419	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	agtgtcctttgccactagaaGacctgaattcatgagaggag	11	8	1	4			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr17:34169419G>T	ENST00000588240.1	+	12	1077	c.962G>T	c.(961-963)aGa>aTa	p.R321I	TAF15_ENST00000311979.3_Missense_Mutation_p.R318I|TAF15_ENST00000592237.1_Missense_Mutation_p.R230I	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GCCACTAGAAGACCTGAATTC	0.443			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																			Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0													102	98	99					17																	34169419		2203	4300	6503	SO:0001583	missense	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.962G>T	17.37:g.34169419G>T	ENSP00000466950:p.Arg321Ile		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.R321I	ENST00000588240.1	37	c.962	CCDS32623.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940796	0.92526	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);	.	.	.	.	T	0.69342	0.3100	L	0.45137	1.4	0.80722	D	1	D;D	0.65815	0.992;0.995	D;D	0.75020	0.967;0.985	T	0.71728	-0.4505	8	0.66056	D	0.02	-15.1297	16.1613	0.81712	0.0:0.0:1.0:0.0	.	321;318	Q92804;Q92804-2	RBP56_HUMAN;.	I	321;124	.	ENSP00000309558:R321I	R	+	2	0	TAF15	31193532	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.009000	0.93606	2.402000	0.81655	0.563000	0.77884	AGA	TAF15	-	NULL		0.443	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF15	HGNC	protein_coding	OTTHUMT00000449134.1	G	NM_139215		34169419	1	no_errors	ENST00000588240	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34169419	G	T	34169419	3	4	165	1	0	0	0	0	1	0	0	0	15548	942	33	3	1008	3	TAF15	17	34169419	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09		34169419	47025791	46	31611										
ATP6V0A1	535	genome.wustl.edu	37	chr17	40618526	40618526	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	agaaatggatcgaaagcttcGtatgtgcactttggtcttgt	11	6	1	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr17:40618526G>C	ENST00000343619.4	+	3	319		c.e3+1		ATP6V0A1_ENST00000393829.2_Splice_Site|ATP6V0A1_ENST00000585525.1_Splice_Site|ATP6V0A1_ENST00000537728.1_Splice_Site|ATP6V0A1_ENST00000264649.6_Splice_Site|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000546249.1_Splice_Site	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CGAAAGCTTCGTATGTGCACT	0.313																																																	0													171	167	168					17																	40618526		2203	4300	6503	SO:0001630	splice_region_variant	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.196+1G>C	17.37:g.40618526G>C			B7Z3B7|Q8N5G7|Q9NSX0	Splice_Site	SNP	-	e2+1	ENST00000343619.4	37	c.196+1	CCDS45684.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962184	0.74016	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	.	.	.	5.8	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9262	0.70881	0.0:0.0:0.7383:0.2617	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V0A1	37872052	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.206000	0.95056	0.749000	0.32854	0.561000	0.74099	.	ATP6V0A1	-	-		0.313	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	G	NM_001130020	Intron	40618526	1	no_errors	ENST00000264649	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	40618526	G	C	40618526	5	2	165	1	0	0	0	0	0	0	1	0	1169	1159	40	2	203	2	ATP6V0A1	17	40618526	Splice_Site	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	6449107	40618526	40576684	47	31612										
B3GNTL1	146712	genome.wustl.edu	37	chr17	80972328	80972328	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cactaaggaggccagtacttAcgctcgacgggtgctgaacg	13	11	0	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr17:80972328A>T	ENST00000320865.3	-	5	422		c.e5+1		B3GNTL1_ENST00000576599.1_Splice_Site|B3GNTL1_ENST00000571954.1_Splice_Site	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1								transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCCAGTACTTACGCTCGACGG	0.478																																																	0													116	92	100					17																	80972328		2203	4300	6503	SO:0001630	splice_region_variant	146712			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.408+1T>A	17.37:g.80972328A>T			Q6GV30|Q8WUT3	Splice_Site	SNP	-	e5+2	ENST00000320865.3	37	c.408+2	CCDS32778.1	17	.	.	.	.	.	.	.	.	.	.	a	11.33	1.607175	0.28623	.	.	ENSG00000175711	ENST00000320865	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.51012	D	0.999909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8082	0.40805	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	B3GNTL1	78565617	0.991000	0.36638	0.039000	0.18376	0.007000	0.05969	3.765000	0.55272	1.899000	0.54978	0.362000	0.22060	.	B3GNTL1	-	-		0.478	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNTL1	HGNC	protein_coding	OTTHUMT00000438949.1	A	NM_001009905	Intron	80972328	-1	no_errors	ENST00000320865	ensembl	human	known	70_37	splice_site	SNP	0.093	T	T	80972328	A	T	80972328	5	4	165	1	0	0	0	0	0	0	1	0	1266	405	14	5	707	5	B3GNTL1	17	80972328	Splice_Site	SNP	A	TCGA-JX-A3Q8-01A-11D-A21Q-09	40353802	80972328	222882	48	31613										
MAST3	23031	genome.wustl.edu	37	chr19	18234034	18234034	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cactctctaccagtcaagctCatcctcccgggaacgtctcc	6	18	4	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr19:18234034C>T	ENST00000262811.6	+	6	320	c.320C>T	c.(319-321)tCa>tTa	p.S107L	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	107	Poly-Ser.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CAGTCAAGCTCATCCTCCCGG	0.612																																																	0													52	53	53					19																	18234034		2129	4237	6366	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.320C>T	19.37:g.18234034C>T	ENSP00000262811:p.Ser107Leu		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S107L	ENST00000262811.6	37	c.320	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157108	0.78114	.	.	ENSG00000099308	ENST00000262811	T	0.34472	1.36	4.93	4.93	0.64822	Microtubule-associated serine/threonine-protein kinase, domain (1);	.	.	.	.	T	0.50394	0.1613	M	0.72479	2.2	0.47511	D	0.999442	B	0.27910	0.193	B	0.41135	0.348	T	0.55309	-0.8161	9	0.66056	D	0.02	-10.2619	17.4786	0.87667	0.0:1.0:0.0:0.0	.	107	O60307	MAST3_HUMAN	L	107	ENSP00000262811:S107L	ENSP00000262811:S107L	S	+	2	0	MAST3	18095034	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	5.619000	0.67729	2.453000	0.82957	0.555000	0.69702	TCA	MAST3	-	pfam_MA_Ser/Thr_Kinase_dom		0.612	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18234034	1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18234034	C	T	18234034	3	4	165	1	0	0	0	0	1	0	0	0	9349	838	29	1	342	1	MAST3	19	18234034	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09		18234034	40894949	49	31614										
KIAA1683	80726	genome.wustl.edu	37	chr19	18378102	18378102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cctggctctcgaccacagccCggaggcgtgggacgcggcgg	17	15	1	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr19:18378102C>T	ENST00000600328.3	-	3	441	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	KIAA1683_ENST00000392413.4_Missense_Mutation_p.R83Q|KIAA1683_ENST00000600359.3_Missense_Mutation_p.R37Q			Q9H0B3	K1683_HUMAN	KIAA1683	83						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GACCACAGCCCGGAGGCGTGG	0.657																																																	0													68	70	69					19																	18378102		2203	4300	6503	SO:0001583	missense	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.248G>A	19.37:g.18378102C>T	ENSP00000470780:p.Arg83Gln		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R83Q	ENST00000600328.3	37	c.248	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995107	0.74703	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	T;T;T	0.05717	3.45;3.47;3.4	2.99	1.95	0.26073	.	.	.	.	.	T	0.12518	0.0304	L	0.36672	1.1	0.09310	N	1	D;D	0.89917	1.0;0.99	D;P	0.76071	0.987;0.47	T	0.18209	-1.0344	9	0.48119	T	0.1	-34.4264	5.2166	0.15346	0.0:0.8369:0.0:0.1631	.	83;83	E9PDE0;Q9H0B3	.;K1683_HUMAN	Q	83;83;37;82;83	ENSP00000376213:R83Q;ENSP00000352774:R83Q;ENSP00000404501:R37Q	ENSP00000351198:R82Q	R	-	2	0	KIAA1683	18239102	0.110000	0.22057	0.151000	0.22473	0.434000	0.31775	1.170000	0.31883	1.699000	0.51192	0.313000	0.20887	CGG	KIAA1683	-	NULL		0.657	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	C			18378102	-1	no_errors	ENST00000392413	ensembl	human	known	70_37	missense	SNP	0.305	T	T	18378102	C	T	18378102	3	4	165	1	0	0	0	0	1	0	0	0	8271	652	23	2	3863	2	KIAA1683	19	18378102	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	144068	18378102	40750881	50	31615										
FFAR3	2865	genome.wustl.edu	37	chr19	35849932	35849932	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gggcaagctgcagcgccgccCggtggccgtggacgtgctcc	17	15	0	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr19:35849932C>G	ENST00000327809.4	+	2	341	c.140C>G	c.(139-141)cCg>cGg	p.P47R	FFAR3_ENST00000594310.1_Missense_Mutation_p.P47R	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	47					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CAGCGCCGCCCGGTGGCCGTG	0.647																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)												0													169	156	160					19																	35849932		2199	4295	6494	SO:0001583	missense	2865			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.140C>G	19.37:g.35849932C>G	ENSP00000328230:p.Pro47Arg		B2RWM8|Q14CM7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.P47R	ENST00000327809.4	37	c.140	CCDS12459.1	19	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882807	0.72410	.	.	ENSG00000185897	ENST00000327809	T	0.63580	-0.05	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.278177	0.34750	U	0.003711	T	0.67739	0.2925	L	0.46157	1.445	0.22880	N	0.998613	D	0.89917	1.0	D	0.85130	0.997	T	0.57112	-0.7867	10	0.14252	T	0.57	-23.4484	9.2359	0.37466	0.0:0.904:0.0:0.096	.	47	O14843	FFAR3_HUMAN	R	47	ENSP00000328230:P47R	ENSP00000328230:P47R	P	+	2	0	FFAR3	40541772	0.008000	0.16893	0.994000	0.49952	0.936000	0.57629	2.091000	0.41691	2.597000	0.87782	0.455000	0.32223	CCG	FFAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.647	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	C	NM_005304		35849932	1	no_errors	ENST00000327809	ensembl	human	known	70_37	missense	SNP	0.395	G	G	35849932	C	G	35849932	3	3	165	1	0	0	0	0	1	0	0	0	5847	652	23	2	142	2	FFAR3	19	35849932	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	17471830	35849932	23279051	51	31616										
FCGBP	8857	genome.wustl.edu	37	chr19	40424127	40424127	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	tgctccaggaagggcctgggGtccagggtgtcatggcagac	17	10	1	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr19:40424127G>C	ENST00000221347.6	-	4	2083	c.2076C>G	c.(2074-2076)gaC>gaG	p.D692E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	692						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGGCCTGGGGTCCAGGGTGT	0.652																																																	0													144	133	137					19																	40424127		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2076C>G	19.37:g.40424127G>C	ENSP00000221347:p.Asp692Glu		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.D692E	ENST00000221347.6	37	c.2076	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321977	0.41096	.	.	ENSG00000090920	ENST00000221347	T	0.77358	-1.09	5.43	0.936	0.19488	Uncharacterised domain, cysteine-rich (2);	0.804464	0.09573	N	0.783889	T	0.71821	0.3385	M	0.62723	1.935	0.23936	N	0.996416	P	0.37370	0.592	B	0.40329	0.326	T	0.58329	-0.7655	10	0.29301	T	0.29	.	3.3389	0.07111	0.4015:0.0:0.4238:0.1748	.	692	Q9Y6R7	FCGBP_HUMAN	E	692	ENSP00000221347:D692E	ENSP00000221347:D692E	D	-	3	2	FCGBP	45115967	0.092000	0.21681	0.947000	0.38551	0.047000	0.14425	0.045000	0.14013	0.267000	0.21916	0.650000	0.86243	GAC	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40424127	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.999	C	C	40424127	G	C	40424127	3	2	165	1	0	0	0	0	1	0	0	0	5796	1252	44	4	14273	4	FCGBP	19	40424127	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	4574195	40424127	18704856	52	31617										
CYP2A13	1553	genome.wustl.edu	37	chr19	41601815	41601815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gggctttgccacgatcccacGaaactacaccatgagcttcc	8	15	0	1	rs267605496		TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr19:41601815G>A	ENST00000330436.3	+	9	1454	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	485					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R485Q(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ACGATCCCACGAAACTACACC	0.627																																																	1	Substitution - Missense(1)	skin(1)											134	120	125					19																	41601815		2203	4300	6503	SO:0001583	missense	1553			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1454G>A	19.37:g.41601815G>A	ENSP00000332679:p.Arg485Gln		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.R485Q	ENST00000330436.3	37	c.1454	CCDS12571.1	19	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068208	0.36470	.	.	ENSG00000197838	ENST00000330436	T	0.68181	-0.31	3.97	-7.93	0.01156	.	0.305062	0.31531	U	0.007492	T	0.34366	0.0895	N	0.03016	-0.435	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.29640	-1.0005	10	0.56958	D	0.05	.	13.9469	0.64091	0.0832:0.3916:0.5252:0.0	.	485	Q16696	CP2AD_HUMAN	Q	485	ENSP00000332679:R485Q	ENSP00000332679:R485Q	R	+	2	0	CYP2A13	46293655	0.000000	0.05858	0.014000	0.15608	0.592000	0.36648	-1.542000	0.02196	-0.648000	0.05437	-0.645000	0.03944	CGA	CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.627	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	G	NM_000766		41601815	1	no_errors	ENST00000330436	ensembl	human	known	70_37	missense	SNP	0.000	A	A	41601815	G	A	41601815	3	1	165	1	0	0	0	0	1	0	0	0	4166	1058	37	1	1488	1	CYP2A13	19	41601815	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	1177688	41601815	17527168	53	31618										
LIPE	3991	genome.wustl.edu	37	chr19	42911508	42911508	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	tctgggccacaaagccaccgCcgtggaagtgcactatcagg	12	13	2	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr19:42911508C>G	ENST00000244289.4	-	6	2231	c.1955G>C	c.(1954-1956)gGc>gCc	p.G652A	LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	652					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AAAGCCACCGCCGTGGAAGTG	0.662																																																	0													26	27	27					19																	42911508		2202	4297	6499	SO:0001583	missense	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1955G>C	19.37:g.42911508C>G	ENSP00000244289:p.Gly652Ala		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.G652A	ENST00000244289.4	37	c.1955	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682035	0.68042	.	.	ENSG00000079435	ENST00000244289	T	0.61510	0.1	4.07	4.07	0.47477	Alpha/beta hydrolase fold-3 (1);	0.145744	0.44285	D	0.000469	D	0.85788	0.5778	H	0.99312	4.51	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.91931	0.5555	10	0.87932	D	0	-4.0111	15.5513	0.76155	0.0:1.0:0.0:0.0	.	652	Q05469	LIPS_HUMAN	A	652	ENSP00000244289:G652A	ENSP00000244289:G652A	G	-	2	0	LIPE	47603348	0.996000	0.38824	0.914000	0.36105	0.866000	0.49608	3.886000	0.56190	2.301000	0.77427	0.561000	0.74099	GGC	LIPE	-	pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase		0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	C	NM_005357		42911508	-1	no_errors	ENST00000244289	ensembl	human	known	70_37	missense	SNP	0.994	G	G	42911508	C	G	42911508	3	3	165	1	0	0	0	0	1	0	0	0	8842	739	26	4	1295	4	LIPE	19	42911508	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	1309693	42911508	16217475	54	31619										
PRR12	57479	genome.wustl.edu	37	chr19	50119035	50119035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	aggccaagaaccccgtatctGctgggggtagctctgcacct	12	13	2	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr19:50119035G>T	ENST00000418929.2	+	9	5068	c.5056G>T	c.(5056-5058)Gct>Tct	p.A1686S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	865							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCCGTATCTGCTGGGGGTAG	0.592																																																	0													32	37	35					19																	50119035		1900	4128	6028	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5056G>T	19.37:g.50119035G>T	ENSP00000394510:p.Ala1686Ser		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.A1686S	ENST00000418929.2	37	c.5056	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	G	8.158	0.788962	0.16258	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.68	-0.294	0.12831	.	0.748080	0.11398	N	0.568115	T	0.10551	0.0258	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35400	-0.9790	9	0.06236	T	0.91	-0.5979	6.0533	0.19796	0.0906:0.0:0.4325:0.4769	.	1686	Q9ULL5-3	.	S	1686;866;866	.	ENSP00000246798:A866S	A	+	1	0	PRR12	54810847	0.001000	0.12720	0.007000	0.13788	0.670000	0.39368	0.147000	0.16202	0.202000	0.20498	-0.268000	0.10319	GCT	PRR12	-	NULL		0.592	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	G	NM_020719		50119035	1	no_errors	ENST00000418929	ensembl	human	novel	70_37	missense	SNP	0.003	T	T	50119035	G	T	50119035	3	4	165	1	0	0	0	0	1	0	0	0	12611	1319	46	4	5090	4	PRR12	19	50119035	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	7207527	50119035	9009948	55	31620										
TSHZ2	128553	genome.wustl.edu	37	chr20	51870650	51870650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ggccagcagattccgatgccGacagtgcagcgcggcctatg	14	13	0	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr20:51870650G>A	ENST00000371497.5	+	2	1540	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R215Q|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R215Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	218					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTCCGATGCCGACAGTGCAGC	0.557																																																	0													59	54	56					20																	51870650		2203	4300	6503	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.653G>A	20.37:g.51870650G>A	ENSP00000360552:p.Arg218Gln		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.R218Q	ENST00000371497.5	37	c.653	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888011	0.72524	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.14640	2.5;2.49	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.056478	0.64402	D	0.000002	T	0.22898	0.0553	L	0.29908	0.895	0.44685	D	0.997673	D	0.63880	0.993	P	0.56216	0.794	T	0.00775	-1.1571	10	0.56958	D	0.05	-11.3381	19.0899	0.93223	0.0:0.0:1.0:0.0	.	218	Q9NRE2	TSH2_HUMAN	Q	218;215	ENSP00000360552:R218Q;ENSP00000333114:R215Q	ENSP00000333114:R215Q	R	+	2	0	TSHZ2	51304057	1.000000	0.71417	0.602000	0.28890	0.403000	0.30841	7.145000	0.77365	2.579000	0.87056	0.643000	0.83706	CGA	TSHZ2	-	smart_Znf_C2H2-like		0.557	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	G	NM_173485		51870650	1	no_errors	ENST00000371497	ensembl	human	known	70_37	missense	SNP	0.998	A	A	51870650	G	A	51870650	3	1	165	1	0	0	0	0	1	0	0	0	16655	1058	37	1	659	1	TSHZ2	20	51870650	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09		51870650	11154870	56	31621										
KRTAP26-1	388818	genome.wustl.edu	37	chr21	31691800	31691800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cactgaacagaggccccagaGgtctgaggctgctggacaca	13	12	1	4			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr21:31691800G>A	ENST00000360542.3	-	1	807	c.554C>T	c.(553-555)cCt>cTt	p.P185L		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	185						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGCCCCAGAGGTCTGAGGCT	0.547																																																	0													167	173	171					21																	31691800		2203	4300	6503	SO:0001583	missense	388818			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.554C>T	21.37:g.31691800G>A	ENSP00000353742:p.Pro185Leu		B0RZD3	Missense_Mutation	SNP	pfam_PMG	p.P185L	ENST00000360542.3	37	c.554	CCDS13588.1	21	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144769	0.77888	.	.	ENSG00000197683	ENST00000360542	T	0.03441	3.93	5.06	5.06	0.68205	.	0.237850	0.33253	N	0.005108	T	0.17619	0.0423	M	0.73598	2.24	0.47584	D	0.99946	D	0.89917	1.0	D	0.97110	1.0	T	0.00022	-1.2341	10	0.87932	D	0	-15.6583	14.6444	0.68751	0.0:0.0:1.0:0.0	.	185	Q6PEX3	KR261_HUMAN	L	185	ENSP00000353742:P185L	ENSP00000353742:P185L	P	-	2	0	KRTAP26-1	30613671	0.988000	0.35896	0.994000	0.49952	0.811000	0.45836	1.747000	0.38298	2.708000	0.92522	0.650000	0.86243	CCT	KRTAP26-1	-	pfam_PMG		0.547	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP26-1	HGNC	protein_coding	OTTHUMT00000128218.1	G	NM_203405		31691800	-1	no_errors	ENST00000360542	ensembl	human	known	70_37	missense	SNP	0.999	A	A	31691800	G	A	31691800	3	1	165	1	0	0	0	0	1	0	0	0	8563	1000	35	4	82	4	KRTAP26-1	21	31691800	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09		31691800	16438095	57	31622										
TRPM2	7226	genome.wustl.edu	37	chr21	45826479	45826479	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	acactctctgtcctgcagatGaaggacgtcttcttcttcct	7	13	4	2	rs376205676		TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr21:45826479G>A	ENST00000397928.1	+	19	3238	c.2793G>A	c.(2791-2793)atG>atA	p.M931I	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.M911I|TRPM2_ENST00000397932.2_Missense_Mutation_p.M931I|TRPM2_ENST00000300482.5_Missense_Mutation_p.M931I	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	931					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCTGCAGATGAAGGACGTCT	0.632																																																	0													36	34	35					21																	45826479		2190	4284	6474	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2793G>A	21.37:g.45826479G>A	ENSP00000381023:p.Met931Ile		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.M931I	ENST00000397928.1	37	c.2793	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	g	14.62	2.590007	0.46214	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.12	4.12	0.48240	Ion transport (1);	0.103719	0.64402	D	0.000005	T	0.66790	0.2825	L	0.43923	1.385	0.51767	D	0.999936	P;B;P	0.45768	0.866;0.117;0.783	B;B;B	0.42771	0.397;0.113;0.397	T	0.73260	-0.4039	10	0.62326	D	0.03	-28.1579	16.8189	0.85740	0.0:0.0:1.0:0.0	.	931;717;931	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	I	931;931;911;931	ENSP00000300482:M931I;ENSP00000381023:M931I;ENSP00000300481:M911I;ENSP00000381026:M931I	ENSP00000300481:M911I	M	+	3	0	TRPM2	44650907	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.428000	0.73383	2.028000	0.59812	0.536000	0.68110	ATG	TRPM2	-	pfam_Ion_trans_dom		0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	G	NM_003307		45826479	1	no_errors	ENST00000300482	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45826479	G	A	45826479	3	1	165	1	0	0	0	0	1	0	0	0	16617	1290	45	1	2867	1	TRPM2	21	45826479	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	14134679	45826479	2303416	58	31623										
C22orf40	150383	genome.wustl.edu	37	chr22	46641057	46641057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	ccttttctccaagtcttgccGaatttcctgaggaaaagcat	7	11	2	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chr22:46641057G>A	ENST00000314567.3	-	4	727	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	CDPF1_ENST00000404583.1_Missense_Mutation_p.R97W|CDPF1_ENST00000404744.1_3'UTR|CDPF1_ENST00000475605.1_5'UTR	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	102																	AAGTCTTGCCGAATTTCCTGA	0.522																																																	0													87	84	85					22																	46641057		2203	4300	6503	SO:0001583	missense	150383				CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 40"	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.304C>T	22.37:g.46641057G>A	ENSP00000325301:p.Arg102Trp		A6NCA1|A9IU12|A9IU16|Q3ZCR8	Missense_Mutation	SNP	pfam_Cys-rich_DPF,prints_Cys-rich_DPF	p.R102W	ENST00000314567.3	37	c.304	CCDS33670.1	22	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497288	0.85069	.	.	ENSG00000205643	ENST00000404583;ENST00000314567	T;T	0.44083	0.93;0.93	5.56	4.52	0.55395	Cysteine-rich domain, DPF-motif (1);	0.713584	0.14159	N	0.337481	T	0.56470	0.1987	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.996	P;P	0.60609	0.877;0.736	T	0.57177	-0.7856	10	0.72032	D	0.01	.	14.7684	0.69657	0.0:0.0:0.8546:0.1454	.	102;97	Q6NVV7;F6RAJ7	CV040_HUMAN;.	W	97;102	ENSP00000384451:R97W;ENSP00000325301:R102W	ENSP00000325301:R102W	R	-	1	2	C22orf40	45019721	0.870000	0.30015	0.866000	0.34008	0.995000	0.86356	3.405000	0.52630	1.290000	0.44636	0.650000	0.86243	CGG	CDPF1	-	pfam_Cys-rich_DPF		0.522	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	CDPF1	HGNC	protein_coding	OTTHUMT00000075560.4	G	NM_207327		46641057	-1	no_errors	ENST00000314567	ensembl	human	novel	70_37	missense	SNP	0.681	A	A	46641057	G	A	46641057	3	1	165	1	0	0	0	0	1	0	0	0	2153	1057	37	1	71	1	C22orf40	22	46641057	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09		46641057	4663509	59	31624										
DMD	1756	genome.wustl.edu	37	chrX	32398677	32398677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	actaggcattccttcaactgCtgatctctttgtcaattcca	5	12	3	1			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chrX:32398677C>T	ENST00000357033.4	-	34	5001	c.4795G>A	c.(4795-4797)Gca>Aca	p.A1599T	DMD_ENST00000378677.2_Missense_Mutation_p.A1595T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1599	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTTCAACTGCTGATCTCTTT	0.393																																																	0													152	133	140					X																	32398677		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4795G>A	X.37:g.32398677C>T	ENSP00000354923:p.Ala1599Thr		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.A1599T	ENST00000357033.4	37	c.4795	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	c	11.63	1.696992	0.30142	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.34859	1.34;1.34	5.21	5.21	0.72293	.	0.000000	0.33272	U	0.005095	T	0.39937	0.1097	N	0.21142	0.635	0.80722	D	1	B;D;B;D;D	0.61697	0.221;0.967;0.262;0.99;0.99	B;P;B;P;P	0.62885	0.084;0.622;0.137;0.908;0.908	T	0.10730	-1.0617	10	0.02654	T	1	.	17.8733	0.88817	0.0:1.0:0.0:0.0	.	1591;1599;1595;258;255	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	T	1591;258;255;1595;1599;1599;1476	ENSP00000367948:A1595T;ENSP00000354923:A1599T	ENSP00000354923:A1599T	A	-	1	0	DMD	32308598	0.739000	0.28196	1.000000	0.80357	0.855000	0.48748	1.405000	0.34635	2.153000	0.67306	0.534000	0.68092	GCA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32398677	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.953	T	T	32398677	C	T	32398677	3	4	165	1	0	0	0	0	1	0	0	0	4590	797	28	4	6594	4	DMD	23	32398677	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09		32398677	122871883	60	31625										
SAGE1	55511	genome.wustl.edu	37	chrX	134994496	134994496	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	tcagattatgaaagaattttCattttgcttgaagaggtaca	8	4	2	5	rs200895409		TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chrX:134994496C>G	ENST00000370709.3	+	18	2538	c.2538C>G	c.(2536-2538)ttC>ttG	p.F846L	SAGE1_ENST00000537770.1_Missense_Mutation_p.F470L|SAGE1_ENST00000535938.1_Missense_Mutation_p.F846L|SAGE1_ENST00000324447.3_Missense_Mutation_p.F846L			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	846						nucleus (GO:0005634)				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)					AAAGAATTTTCATTTTGCTTG	0.318																																																	0													77	76	76					X																	134994496		2201	4299	6500	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2538C>G	X.37:g.134994496C>G	ENSP00000359743:p.Phe846Leu		Q5JNW0	Missense_Mutation	SNP	NULL	p.F846L	ENST00000370709.3	37	c.2538	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622517	0.28889	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.41400	1.0;1.0;1.02;1.0	2.31	2.31	0.28768	.	0.191967	0.45126	N	0.000399	T	0.52435	0.1734	L	0.53671	1.685	0.31443	N	0.671768	D;P	0.56035	0.974;0.859	D;B	0.67725	0.953;0.37	T	0.56589	-0.7954	10	0.56958	D	0.05	.	8.1043	0.30877	0.0:0.8572:0.0:0.1428	.	470;846	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	L	846;846;470;846	ENSP00000323191:F846L;ENSP00000445959:F846L;ENSP00000438276:F470L;ENSP00000359743:F846L	ENSP00000323191:F846L	F	+	3	2	SAGE1	134822162	0.144000	0.22641	0.055000	0.19348	0.396000	0.30629	0.319000	0.19522	1.145000	0.42336	0.179000	0.17066	TTC	SAGE1	-	NULL		0.318	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	C	NM_018666		134994496	1	no_errors	ENST00000324447	ensembl	human	known	70_37	missense	SNP	0.818	G	G	134994496	C	G	134994496	3	3	165	1	0	0	0	0	1	0	0	0	13839	825	29	1	2608	1	SAGE1	23	134994496	Missense_Mutation	SNP	C	TCGA-JX-A3Q8-01A-11D-A21Q-09	102595819	134994496	20276064	61	31626										
PASD1	139135	genome.wustl.edu	37	chrX	150840915	150840915	+	Silent	SNP	G	G	A													0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gaggagcagcagaagcagcaGctgcaagagcagccactgaa							TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chrX:150840915G>A	ENST00000370357.4	+	14	1943	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	566						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					agaagcagcagctgcaagagc	0.547																																																	0													104	79	87					X																	150840915		2203	4300	6503	SO:0001819	synonymous_variant	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1698G>A	X.37:g.150840915G>A			Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	smart_PAS,pfscan_PAS	p.Q566	ENST00000370357.4	37	c.1698	CCDS35431.1	X																																																																																			PASD1	-	NULL		0.547	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	G	NM_173493		150840915	1	no_errors	ENST00000370357	ensembl	human	known	70_37	silent	SNP	0.000	A	A	150840915	G	A	150840915	2	1	165	1	0	0	0	0	0	0	0	1	11495	962	34	4		4	PASD1	23	150840915	Silent	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	15846419	150840915	4429645	62	31627	205	2								
PASD1	139135	genome.wustl.edu	37	chrX	150840924	150840924	+	Silent	SNP	G	G	A													0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	cagaagcagcagctgcaagaGcagccactgaagcataatgt							TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chrX:150840924G>A	ENST00000370357.4	+	14	1952	c.1707G>A	c.(1705-1707)gaG>gaA	p.E569E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	569						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					agctgcaagagcagccactga	0.542																																																	0													113	85	94					X																	150840924		2203	4300	6503	SO:0001819	synonymous_variant	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1707G>A	X.37:g.150840924G>A			Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	smart_PAS,pfscan_PAS	p.E569	ENST00000370357.4	37	c.1707	CCDS35431.1	X																																																																																			PASD1	-	NULL		0.542	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	G	NM_173493		150840924	1	no_errors	ENST00000370357	ensembl	human	known	70_37	silent	SNP	0.002	A	A	150840924	G	A	150840924	2	1	165	1	0	0	0	0	0	0	0	1	11495	962	34	4		4	PASD1	23	150840924	Silent	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	9	150840924	4429636	63	31628	205	2								
FLNA	2316	genome.wustl.edu	37	chrX	153589834	153589834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.126984126984127	8	0.139370789440405	1.63636363636364	3.02727272727273	1.12121212121212	1	1	0	gcctggctccaccttgcaggGcaccgctgcacccgaggggc	14	17	0	0			TCGA-JX-A3Q8-01A-11D-A21Q-09	TCGA-JX-A3Q8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8492e084-f9e1-4bad-9143-ab05dca4dc2d	4fe4de09-aaf1-4b8b-8708-e41c19c23cac	g.chrX:153589834G>A	ENST00000369850.3	-	21	3285	c.3049C>T	c.(3049-3051)Ccc>Tcc	p.P1017S	FLNA_ENST00000360319.4_Missense_Mutation_p.P1017S|FLNA_ENST00000422373.1_Missense_Mutation_p.P1017S|FLNA_ENST00000344736.4_Missense_Mutation_p.P1017S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1017					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTTGCAGGGCACCGCTGCA	0.612																																																	0													74	76	76					X																	153589834		2131	4206	6337	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3049C>T	X.37:g.153589834G>A	ENSP00000358866:p.Pro1017Ser		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.P1017S	ENST00000369850.3	37	c.3049	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350410	0.41599	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.51	5.51	0.81932	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.072322	0.56097	D	0.000037	D	0.93086	0.7799	M	0.84846	2.72	0.80722	D	1	B;B	0.25850	0.136;0.018	B;B	0.24006	0.049;0.05	D	0.91698	0.5371	10	0.72032	D	0.01	.	18.5078	0.90904	0.0:0.0:1.0:0.0	.	1017;1017	P21333-2;P21333	.;FLNA_HUMAN	S	1017;990;1017;1017;1017	ENSP00000353467:P1017S;ENSP00000416926:P1017S;ENSP00000358866:P1017S;ENSP00000358863:P1017S	ENSP00000358863:P1017S	P	-	1	0	FLNA	153243028	1.000000	0.71417	0.998000	0.56505	0.482000	0.33219	3.047000	0.49854	2.313000	0.78055	0.523000	0.50628	CCC	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153589834	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	A	A	153589834	G	A	153589834	3	1	165	1	0	0	0	0	1	0	0	0	5951	1203	42	4	5006	4	FLNA	23	153589834	Missense_Mutation	SNP	G	TCGA-JX-A3Q8-01A-11D-A21Q-09	2748910	153589834	1680726	64	31629										
SERBP1	26135	genome.wustl.edu	37	chr1	67885742	67885742	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tcccttcttccactgcccatCagcaccttcatttggttttc	4	16	3	0			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:67885742C>T	ENST00000370995.2	-	6	1031	c.946G>A	c.(946-948)Gat>Aat	p.D316N	SERBP1_ENST00000370994.4_Missense_Mutation_p.D295N|SERBP1_ENST00000361219.6_Missense_Mutation_p.D301N|SERBP1_ENST00000370990.5_Missense_Mutation_p.D310N|SERBP1_ENST00000484880.1_5'UTR|RNU6-387P_ENST00000411331.1_RNA			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	316					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CACTGCCCATCAGCACCTTCA	0.378																																																	0													84	87	86					1																	67885742		2203	4297	6500	SO:0001583	missense	26135			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.946G>A	1.37:g.67885742C>T	ENSP00000360034:p.Asp316Asn		Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	pfam_HABP4_PAIRBP1-bd	p.D316N	ENST00000370995.2	37	c.946	CCDS30746.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281613	0.59758	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.45	5.45	0.79879	.	0.043041	0.85682	D	0.000000	T	0.71685	0.3369	M	0.63428	1.95	0.80722	D	1	B;D;P;B	0.76494	0.141;0.999;0.68;0.403	B;D;B;B	0.81914	0.028;0.995;0.136;0.145	T	0.66548	-0.5896	9	0.28530	T	0.3	-2.1987	19.2787	0.94042	0.0:1.0:0.0:0.0	.	358;373;301;316	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	N	295;316;301;310	.	ENSP00000354591:D301N	D	-	1	0	SERBP1	67658330	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.776000	0.85560	2.552000	0.86080	0.460000	0.39030	GAT	SERBP1	-	NULL		0.378	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERBP1	HGNC	protein_coding	OTTHUMT00000025984.2	C	NM_001018067		67885742	-1	no_errors	ENST00000370995	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67885742	C	T	67885742	3	4	166	1	0	0	0	0	1	0	0	0	14105	826	29	1	292	1	SERBP1	1	67885742	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09		67885742	181364879	1	31630										
PKN2	5586	genome.wustl.edu	37	chr1	89287654	89287654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gcttgtgtagttcttgggttGcagtatttacatgaacacaa	10	6	1	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:89287654G>T	ENST00000370521.3	+	17	2669	c.2310G>T	c.(2308-2310)ttG>ttT	p.L770F	PKN2_ENST00000370505.3_Missense_Mutation_p.L613F|PKN2_ENST00000544045.1_Missense_Mutation_p.L444F|PKN2_ENST00000370513.5_Missense_Mutation_p.L722F	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTCTTGGGTTGCAGTATTTAC	0.269																																																	0													85	76	79					1																	89287654		1783	4055	5838	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2310G>T	1.37:g.89287654G>T	ENSP00000359552:p.Leu770Phe		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.L770F	ENST00000370521.3	37	c.2310	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802763	0.31869	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045;ENST00000544215	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.83	3.96	0.45880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33382	U	0.004970	T	0.54598	0.1868	M	0.89968	3.075	0.52099	D	0.999949	D;P;B	0.53885	0.963;0.924;0.432	P;B;B	0.54372	0.75;0.431;0.201	T	0.64466	-0.6401	10	0.87932	D	0	.	7.7665	0.28982	0.1442:0.0:0.7137:0.1421	.	754;722;770	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	F	770;613;722;444;24	ENSP00000359552:L770F;ENSP00000359536:L613F;ENSP00000359544:L722F;ENSP00000439643:L444F	ENSP00000359536:L613F	L	+	3	2	PKN2	89060242	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	0.608000	0.24223	1.481000	0.48307	0.591000	0.81541	TTG	PKN2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.269	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	G	NM_006256		89287654	1	no_errors	ENST00000370521	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89287654	G	T	89287654	3	4	166	1	0	0	0	0	1	0	0	0	12004	1310	46	4	2376	4	PKN2	1	89287654	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	21401912	89287654	159962967	2	31631										
CFHR3	10878	genome.wustl.edu	37	chr1	196749069	196749069	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	acagttacatgtacggagaaAggctggtctcctactcccag	10	11	1	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:196749069A>T	ENST00000367425.4	+	3	488	c.396A>T	c.(394-396)aaA>aaT	p.K132N	CFHR3_ENST00000471440.2_Missense_Mutation_p.K132N|CFHR3_ENST00000391985.3_Missense_Mutation_p.K132N	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	132	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.			K -> N (in Ref. 1; CAA48639). {ECO:0000305}.		blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTACGGAGAAAGGCTGGTCTC	0.483																																																	0													89	87	87					1																	196749069		1904	4137	6041	SO:0001583	missense	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.396A>T	1.37:g.196749069A>T	ENSP00000356395:p.Lys132Asn		B4DPR0|Q9UJ16	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.K132N	ENST00000367425.4	37	c.396	CCDS30958.1	1	.	.	.	.	.	.	.	.	.	.	.	0.052	-1.247677	0.01469	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.64618	-0.11;-0.11;-0.11	3.67	-5.35	0.02697	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.12518	0.0304	N	0.00132	-2.035	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.34775	-0.9815	9	0.02654	T	1	.	0.1691	0.00111	0.292:0.2038:0.1478:0.3563	.	132;132;132	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	N	132	ENSP00000356395:K132N;ENSP00000436258:K132N;ENSP00000375845:K132N	ENSP00000356395:K132N	K	+	3	2	CFHR3	195015692	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.400000	0.02504	-0.721000	0.04929	-1.284000	0.01376	AAA	CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	A	NM_021023		196749069	1	no_errors	ENST00000367425	ensembl	human	known	70_37	missense	SNP	0.008	T	T	196749069	A	T	196749069	3	4	166	1	0	0	0	0	1	0	0	0	3291	69	3	5	406	5	CFHR3	1	196749069	Missense_Mutation	SNP	A	TCGA-JX-A5QV-01A-22D-A28B-09	107461415	196749069	52501552	3	31632										
MAPKAPK2	9261	genome.wustl.edu	37	chr1	206904595	206904595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ccaacccagaatggtcagaaGtatcagaggaaggtaagaac	11	8	2	4			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:206904595G>A	ENST00000367103.3	+	7	1073	c.880G>A	c.(880-882)Gta>Ata	p.V294I	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.V294I	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ATGGTCAGAAGTATCAGAGGA	0.537																																																	0													77	75	76					1																	206904595		2203	4300	6503	SO:0001583	missense	9261			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.880G>A	1.37:g.206904595G>A	ENSP00000356070:p.Val294Ile		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V294I	ENST00000367103.3	37	c.880	CCDS31001.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536740	0.85812	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.49139	0.79;0.79	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.41971	0.1182	N	0.03999	-0.3	0.80722	D	1	B;P	0.49447	0.321;0.924	P;P	0.58577	0.701;0.841	T	0.35943	-0.9768	9	0.12766	T	0.61	-11.2774	17.8794	0.88835	0.0:0.0:1.0:0.0	.	294;294	P49137;P49137-2	MAPK2_HUMAN;.	I	294	ENSP00000294981:V294I;ENSP00000356070:V294I	ENSP00000294981:V294I	V	+	1	0	MAPKAPK2	204971218	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.841000	0.99482	2.567000	0.86603	0.655000	0.94253	GTA	MAPKAPK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.537	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1	G	NM_004759		206904595	1	no_errors	ENST00000367103	ensembl	human	known	70_37	missense	SNP	1.000	A	A	206904595	G	A	206904595	3	1	166	1	0	0	0	0	1	0	0	0	9312	1029	36	4	906	4	MAPKAPK2	1	206904595	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	10155526	206904595	42346026	4	31633										
PIGR	5284	genome.wustl.edu	37	chr1	207112633	207112633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	cctgcatatttgctggagacGtagccctccgaggagatgag	13	10	0	3			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:207112633G>A	ENST00000356495.4	-	3	402	c.219C>T	c.(217-219)taC>taT	p.Y73Y		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	73	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCTGGAGACGTAGCCCTCCG	0.597																																																	0													113	90	98					1																	207112633		2203	4300	6503	SO:0001819	synonymous_variant	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.219C>T	1.37:g.207112633G>A			Q68D81|Q8IZY7	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Y73	ENST00000356495.4	37	c.219	CCDS1474.1	1																																																																																			PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.597	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	G	NM_002644		207112633	-1	no_errors	ENST00000356495	ensembl	human	known	70_37	silent	SNP	0.001	A	A	207112633	G	A	207112633	2	1	166	1	0	0	0	0	0	0	0	1	11921	1140	40	2		2	PIGR	1	207112633	Silent	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	208038	207112633	42137988	5	31634										
NEUROD1	4760	genome.wustl.edu	37	chr2	182543231	182543231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ttgcgcaggttgtctagcgcCgcgttcagtccgtgcatgcg	14	12	2	0	rs375774931		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr2:182543231C>T	ENST00000295108.3	-	2	814	c.357G>A	c.(355-357)gcG>gcA	p.A119A	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	119	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A119A(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGTCTAGCGCCGCGTTCAGTC	0.542																																																	1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	83	77	79		357	-5.7	0.9	2		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NEUROD1	NM_002500.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		119/357	182543231	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.357G>A	2.37:g.182543231C>T			B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom	p.A119	ENST00000295108.3	37	c.357	CCDS2283.1	2																																																																																			NEUROD1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom		0.542	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	C	NM_002500		182543231	-1	no_errors	ENST00000295108	ensembl	human	known	70_37	silent	SNP	0.082	T	T	182543231	C	T	182543231	2	4	166	1	0	0	0	0	0	0	0	1	10372	639	23	2		2	NEUROD1	2	182543231	Silent	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09		182543231	60656142	6	31635										
MTERFD2	130916	genome.wustl.edu	37	chr2	242038897	242038897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ataactggggacttttcttcAagaccacacacacaggctct	7	12	3	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr2:242038897A>G	ENST00000391980.2	-	2	492	c.434T>C	c.(433-435)tTg>tCg	p.L145S	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.L145S|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.L145S	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		145					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ACTTTTCTTCAAGACCACACA	0.463																																																	0													116	119	118					2																	242038897		2203	4300	6503	SO:0001583	missense	130916																														ENST00000391980.2:c.434T>C	2.37:g.242038897A>G	ENSP00000375840:p.Leu145Ser		A8K6K0|Q9P0E0	Missense_Mutation	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.L145S	ENST00000391980.2	37	c.434	CCDS2544.1	2	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254898	0.59321	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.64618	-0.11;-0.09;2.42;2.42;2.42;0.06	5.03	3.85	0.44370	.	0.147317	0.29995	N	0.010677	T	0.76392	0.3981	M	0.74881	2.28	0.24617	N	0.993693	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.68454	-0.5404	10	0.87932	D	0	-2.7983	10.9951	0.47571	0.843:0.157:0.0:0.0	.	145;145	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	S	145;145;145;138;145;124	ENSP00000419315:L145S;ENSP00000385183:L145S;ENSP00000375840:L145S;ENSP00000409023:L138S;ENSP00000385630:L145S;ENSP00000393063:L124S	ENSP00000241527:L145S	L	-	2	0	MTERFD2	241687570	1.000000	0.71417	0.028000	0.17463	0.994000	0.84299	6.032000	0.70918	0.745000	0.32763	0.482000	0.46254	TTG	MTERFD2	-	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel		0.463	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323798.4	A			242038897	-1	no_errors	ENST00000241527	ensembl	human	known	70_37	missense	SNP	0.399	G	G	242038897	A	G	242038897	3	3	166	1	0	0	0	0	1	0	0	0	9943	131	5	5	723	5	MTERFD2	2	242038897	Missense_Mutation	SNP	A	TCGA-JX-A5QV-01A-22D-A28B-09	59495666	242038897	1160476	7	31636										
CTNND2	1501	genome.wustl.edu	37	chr5	11199587	11199587	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	cagctcccggatctccaggtCagtcgtcttgcggagtaacc	11	14	3	0			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr5:11199587C>G	ENST00000304623.8	-	11	2137	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	CTNND2_ENST00000458100.2_Missense_Mutation_p.D217H|CTNND2_ENST00000359640.2_Missense_Mutation_p.D650H|CTNND2_ENST00000511377.1_Missense_Mutation_p.D559H|CTNND2_ENST00000503622.1_Missense_Mutation_p.D313H|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	650					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D650N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCTCCAGGTCAGTCGTCTTG	0.428																																																	1	Substitution - Missense(1)	lung(1)											142	143	142					5																	11199587		2203	4300	6503	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1948G>C	5.37:g.11199587C>G	ENSP00000307134:p.Asp650His		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D650H	ENST00000304623.8	37	c.1948	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711726	0.89112	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86372	0.5917	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87370	0.2350	10	0.87932	D	0	-30.8748	20.0474	0.97616	0.0:1.0:0.0:0.0	.	313;217;650	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	650;650;559;217;313	ENSP00000307134:D650H;ENSP00000352661:D650H;ENSP00000426510:D559H;ENSP00000391155:D217H;ENSP00000426887:D313H	ENSP00000307134:D650H	D	-	1	0	CTNND2	11252587	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	7.484000	0.81180	2.722000	0.93159	0.655000	0.94253	GAC	CTNND2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.428	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	C	NM_001332		11199587	-1	no_errors	ENST00000304623	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11199587	C	G	11199587	3	3	166	1	0	0	0	0	1	0	0	0	4025	826	29	1	1777	1	CTNND2	5	11199587	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09		11199587	169715673	8	31637										
SNX18	112574	genome.wustl.edu	37	chr5	53815615	53815615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tatcttgcattagggaatgaGtactctttctcgaaggttca	9	7	4	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr5:53815615G>T	ENST00000326277.3	+	1	2023	c.1833G>T	c.(1831-1833)gaG>gaT	p.E611D	SNX18_ENST00000381410.4_Intron|SNX18_ENST00000343017.6_Intron	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	611	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TAGGGAATGAGTACTCTTTCT	0.443																																																	0													65	65	65					5																	53815615		2203	4300	6503	SO:0001583	missense	112574			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1833G>T	5.37:g.53815615G>T	ENSP00000317332:p.Glu611Asp		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.E611D	ENST00000326277.3	37	c.1833	CCDS3962.1	5	.	.	.	.	.	.	.	.	.	.	G	4.284	0.051921	0.08291	.	.	ENSG00000178996	ENST00000326277	T	0.12147	2.71	3.54	0.726	0.18248	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.18263	0.021	T	0.43814	-0.9368	8	.	.	.	0.0625	3.691	0.08346	0.2274:0.2118:0.5608:0.0	.	611	Q96RF0	SNX18_HUMAN	D	611	ENSP00000317332:E611D	.	E	+	3	2	SNX18	53851372	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-0.148000	0.10219	0.127000	0.18452	0.462000	0.41574	GAG	SNX18	-	pirsf_Snx9		0.443	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	G			53815615	1	no_errors	ENST00000326277	ensembl	human	known	70_37	missense	SNP	0.002	T	T	53815615	G	T	53815615	3	4	166	1	0	0	0	0	1	0	0	0	14919	1020	36	4	1835	4	SNX18	5	53815615	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	42616028	53815615	127099645	9	31638										
PCDHB13	56123	genome.wustl.edu	37	chr5	140595593	140595593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	cgccaggctgctgagcgagcGcgacgcggccaagcacaggc	16	15	0	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr5:140595593G>A	ENST00000341948.4	+	1	2085	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGCGAGCGCGACGCGGCC	0.697																																																	0													19	21	21					5																	140595593		1700	3532	5232	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1898G>A	5.37:g.140595593G>A	ENSP00000345491:p.Arg633His		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R633H	ENST00000341948.4	37	c.1898	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	-	17.55	3.416613	0.62511	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51325	0.71	3.6	3.6	0.41247	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58192	0.2105	M	0.69358	2.11	0.30345	N	0.785348	D	0.71674	0.998	P	0.57057	0.812	T	0.59658	-0.7413	9	0.87932	D	0	.	8.945	0.35753	0.1079:0.0:0.8921:0.0	.	633	Q9Y5F0	PCDBD_HUMAN	H	633;633;579	ENSP00000345491:R633H	ENSP00000345491:R633H	R	+	2	0	PCDHB13	140575777	0.000000	0.05858	1.000000	0.80357	0.768000	0.43524	0.051000	0.14141	1.576000	0.49790	0.298000	0.19748	CGC	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	G	NM_018933		140595593	1	no_errors	ENST00000341948	ensembl	human	known	70_37	missense	SNP	0.945	A	A	140595593	G	A	140595593	3	1	166	1	0	0	0	0	1	0	0	0	11562	1087	38	2	1900	2	PCDHB13	5	140595593	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	86779978	140595593	40319667	10	31639										
C4A	721	genome.wustl.edu	37	chr6	31996297	31996297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tgcggcttggttgtcacgggGcagcagcacctggtgagctt	16	10	1	1	rs2258218	byFrequency	TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr6:31996297G>A	ENST00000435363.2	+	25	3302	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	C4B_ENST00000425700.2_Missense_Mutation_p.G1073D	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1073			G -> D (in allotype C4B2 and allotype C4B5-Rg1). {ECO:0000269|PubMed:6546707, ECO:0000269|Ref.3}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGTCACGGGGCAGCAGCACC	0.617																																																	0													80	64	69					6																	31996297		2166	4204	6370	SO:0001583	missense	721			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"Blood group antigens", "Complement system"	1324	protein-coding gene	gene with protein product		120820	"complement component 4B"				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3218G>A	6.37:g.31996297G>A	ENSP00000415941:p.Gly1073Asp		A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.G1073D	ENST00000435363.2	37	c.3218	CCDS47405.1	6	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023980	0.00414	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.12774	2.65;2.65	4.65	2.05	0.26809	.	.	.	.	.	T	0.00695	0.0023	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45920	-0.9228	9	0.16896	T	0.51	.	3.9306	0.09283	0.6287:0.1801:0.1913:0.0	.	1073;1073	F5GXS0;Q6U2E9	.;.	D	1073	ENSP00000415941:G1073D;ENSP00000391933:G1073D	ENSP00000391933:G1073D	G	+	2	0	C4B	32104275	0.000000	0.05858	0.241000	0.24154	0.036000	0.12997	-0.332000	0.07904	0.169000	0.19679	-1.524000	0.00929	GGC	C4B	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.617	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4B	HGNC	protein_coding	OTTHUMT00000076368.5	G	NM_001002029		31996297	1	no_errors	ENST00000435363	ensembl	human	known	70_37	missense	SNP	0.060	A	A	31996297	G	A	31996297	3	1	166	1	0	0	0	0	1	0	0	0	2252	1203	42	4	8378	4	C4A	6	31996297	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09		31996297	139118770	11	31640										
ZNF318	24149	genome.wustl.edu	37	chr6	43309879	43309879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gaacagttatcttgtcagtgCgctttatggcatcttgcttg	10	8	3	0			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr6:43309879C>T	ENST00000361428.2	-	8	3424	c.3347G>A	c.(3346-3348)cGc>cAc	p.R1116H	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1116					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R1116L(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTGTCAGTGCGCTTTATGGC	0.463																																																	1	Substitution - Missense(1)	lung(1)											238	185	203					6																	43309879		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3347G>A	6.37:g.43309879C>T	ENSP00000354964:p.Arg1116His		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.R1116H	ENST00000361428.2	37	c.3347	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981351	0.74474	.	.	ENSG00000171467	ENST00000361428	T	0.13420	2.59	5.9	5.03	0.67393	.	0.326176	0.34879	N	0.003619	T	0.17959	0.0431	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.01452	-1.1351	10	0.72032	D	0.01	-4.1162	13.178	0.59639	0.0:0.9268:0.0:0.0732	.	1116	Q5VUA4	ZN318_HUMAN	H	1116	ENSP00000354964:R1116H	ENSP00000354964:R1116H	R	-	2	0	ZNF318	43417857	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	1.630000	0.37081	1.503000	0.48686	0.563000	0.77884	CGC	ZNF318	-	NULL		0.463	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345		43309879	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43309879	C	T	43309879	3	4	166	1	0	0	0	0	1	0	0	0	17866	768	27	2	3504	2	ZNF318	6	43309879	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	11313582	43309879	127805188	12	31641										
MICAL1	64780	genome.wustl.edu	37	chr6	109769091	109769091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tctccaccttggcccgggatCgctgcagggtcctctgaagt	12	14	2	1	rs137916380	byFrequency	TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr6:109769091C>T	ENST00000358807.3	-	14	2242	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	MICAL1_ENST00000368952.4_Missense_Mutation_p.R663Q|MICAL1_ENST00000358577.3_Missense_Mutation_p.R558Q	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	644					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGCCCGGGATCGCTGCAGGGT	0.622																																																	0													50	54	52					6																	109769091		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1931G>A	6.37:g.109769091C>T	ENSP00000351664:p.Arg644Gln		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.R663Q	ENST00000358807.3	37	c.1988	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474849	0.84640	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	T;T;T	0.53206	0.66;0.66;0.63	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000004	T	0.43255	0.1239	L	0.36672	1.1	0.33811	D	0.627874	P;D;D	0.71674	0.751;0.998;0.997	B;D;D	0.75484	0.097;0.986;0.968	T	0.25257	-1.0137	10	0.13470	T	0.59	.	14.3847	0.66938	0.0:1.0:0.0:0.0	.	663;558;644	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	Q	644;663;558;168	ENSP00000351664:R644Q;ENSP00000357948:R663Q;ENSP00000351385:R558Q	ENSP00000351385:R558Q	R	-	2	0	MICAL1	109875784	0.995000	0.38212	0.999000	0.59377	0.828000	0.46876	1.883000	0.39658	2.461000	0.83175	0.609000	0.83330	CGA	MICAL1	-	NULL		0.622	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	C	NM_022765		109769091	-1	no_errors	ENST00000368952	ensembl	human	known	70_37	missense	SNP	0.999	T	T	109769091	C	T	109769091	3	4	166	1	0	0	0	0	1	0	0	0	9592	884	31	1	1320	1	MICAL1	6	109769091	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	66459212	109769091	61345976	13	31642										
ZNF804B	219578	genome.wustl.edu	37	chr7	88964910	88964910	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tgaataaaagcaagagaaatCaagagtctttgggcagccct	10	7	2	3			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr7:88964910C>T	ENST00000333190.4	+	4	3223	c.2614C>T	c.(2614-2616)Caa>Taa	p.Q872*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	872							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAGAGAAATCAAGAGTCTTT	0.423										HNSCC(36;0.09)																																							0													60	62	61					7																	88964910		2203	4299	6502	SO:0001587	stop_gained	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2614C>T	7.37:g.88964910C>T	ENSP00000329638:p.Gln872*		B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.Q872*	ENST00000333190.4	37	c.2614	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	38	7.182876	0.98118	.	.	ENSG00000182348	ENST00000333190	.	.	.	4.95	3.13	0.36017	.	1.061480	0.07264	N	0.867883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2361	6.2299	0.20728	0.1174:0.5008:0.3094:0.0724	.	.	.	.	X	872	.	ENSP00000329638:Q872X	Q	+	1	0	ZNF804B	88802846	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.431000	0.06965	0.691000	0.31592	-0.122000	0.15005	CAA	ZNF804B	-	NULL		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88964910	1	no_errors	ENST00000333190	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	88964910	C	T	88964910	4	4	166	1	0	0	0	0	0	1	0	0	18201	827	29	1	2628	1	ZNF804B	7	88964910	Nonsense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09		88964910	70173753	14	31643										
CPA1	1357	genome.wustl.edu	37	chr7	130021600	130021600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	atgagaccatgatcgaggacGtgcagtcgctgctggacgag	15	9	0	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr7:130021600G>A	ENST00000011292.3	+	3	427	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	CPA1_ENST00000484324.1_Missense_Mutation_p.V5M	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	93					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GATCGAGGACGTGCAGTCGCT	0.617											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													74	62	66					7																	130021600		2203	4300	6503	SO:0001583	missense	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.277G>A	7.37:g.130021600G>A	ENSP00000011292:p.Val93Met	1576	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.V93M	ENST00000011292.3	37	c.277	CCDS5820.1	7	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801221	0.31869	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.56611	2.26;0.45;1.96;2.07	5.19	2.3	0.28687	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.259358	0.36303	N	0.002662	T	0.67608	0.2911	M	0.79475	2.455	0.27811	N	0.942147	D;D	0.76494	0.995;0.999	P;D	0.65773	0.752;0.938	T	0.62445	-0.6853	10	0.87932	D	0	.	9.7082	0.40229	0.0:0.2902:0.5592:0.1506	.	5;93	B4DDW9;P15085	.;CBPA1_HUMAN	M	5;93;5;5	ENSP00000420218:V5M;ENSP00000011292:V93M;ENSP00000419408:V5M;ENSP00000419497:V5M	ENSP00000011292:V93M	V	+	1	0	CPA1	129808836	0.255000	0.24002	0.510000	0.27712	0.054000	0.15201	0.482000	0.22276	0.185000	0.20105	-0.219000	0.12488	GTG	CPA1	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.617	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	G	NM_001868		130021600	1	no_errors	ENST00000011292	ensembl	human	known	70_37	missense	SNP	0.310	A	A	130021600	G	A	130021600	3	1	166	1	0	0	0	0	1	0	0	0	3794	1145	40	2	287	2	CPA1	7	130021600	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	41056690	130021600	29117063	15	31644										
RAPGEF1	2889	genome.wustl.edu	37	chr9	134501771	134501771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tatctggtctgcgttagagaGgtcttgctggaggaattcat	13	6	4	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr9:134501771G>A	ENST00000372189.3	-	10	1312	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L415F|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.L414F|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	397					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCGTTAGAGAGGTCTTGCTGG	0.552																																																	0													88	91	90					9																	134501771		1951	4151	6102	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1189C>T	9.37:g.134501771G>A	ENSP00000361263:p.Leu397Phe		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L415F	ENST00000372189.3	37	c.1243	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218566	0.79464	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.50001	0.76;0.76;0.76	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.66963	0.2843	M	0.64997	1.995	0.45342	D	0.998338	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76575	0.972;0.972;0.988	T	0.68731	-0.5331	10	0.59425	D	0.04	.	17.8556	0.88761	0.0:0.0:1.0:0.0	.	414;397;415	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	F	397;414;291;397;415;377;323;92;414	ENSP00000361269:L414F;ENSP00000361263:L397F;ENSP00000361264:L415F	ENSP00000266110:L397F	L	-	1	0	RAPGEF1	133491592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.944000	0.56629	2.532000	0.85374	0.650000	0.86243	CTC	RAPGEF1	-	NULL		0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	G	NM_005312		134501771	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	missense	SNP	1.000	A	A	134501771	G	A	134501771	3	1	166	1	0	0	0	0	1	0	0	0	13073	1000	35	4	2104	4	RAPGEF1	9	134501771	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09		134501771	6711660	16	31645										
QSOX2	169714	genome.wustl.edu	37	chr9	139108447	139108447	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	cgagggttctggggctcaccCgcatcttgttgttgaccagg	14	11	3	1	rs368735255		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr9:139108447C>T	ENST00000358701.5	-	9	1245	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	403					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGGGCTCACCCGCATCTTGTT	0.637																																																	0								C	GLN/ARG	0,4406		0,0,2203	143	92	109		1208	3.5	1	9		109	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	QSOX2	NM_181701.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	403/699	139108447	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	169714			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1209+1G>A	9.37:g.139108447C>T			A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.R403Q	ENST00000358701.5	37	c.1208	CCDS35178.1	9	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268822	0.59540	0.0	1.16E-4	ENSG00000165661	ENST00000358701;ENST00000389471	T	0.16597	2.33	4.46	3.54	0.40534	.	0.107041	0.32852	N	0.005575	T	0.09247	0.0228	N	0.25201	0.72	0.48135	D	0.999591	P	0.34815	0.47	B	0.20577	0.03	T	0.25257	-1.0137	10	0.30854	T	0.27	-22.0453	10.5259	0.44948	0.0:0.9026:0.0:0.0974	.	403	Q6ZRP7	QSOX2_HUMAN	Q	403;202	ENSP00000351536:R403Q	ENSP00000351536:R403Q	R	-	2	0	QSOX2	138248268	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.139000	0.58024	0.831000	0.34780	0.514000	0.50259	CGG	QSOX2	-	NULL		0.637	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	HGNC	protein_coding	OTTHUMT00000055046.2	C	NM_181701	Missense_Mutation	139108447	-1	no_errors	ENST00000358701	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139108447	C	T	139108447	5	4	166	1	0	0	0	0	0	0	1	0	12914	666	23	2	904	2	QSOX2	9	139108447	Splice_Site	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	4606676	139108447	2104984	17	31646										
NRP1	8829	genome.wustl.edu	37	chr10	33559709	33559709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gaagacacaacaggaggaggGgctatctttccacagaactt	11	9	1	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr10:33559709G>A	ENST00000265371.4	-	4	849	c.324C>T	c.(322-324)gcC>gcT	p.A108A	NRP1_ENST00000432372.2_Silent_p.A108A|NRP1_ENST00000374867.2_Silent_p.A108A|NRP1_ENST00000374823.5_Silent_p.A108A|NRP1_ENST00000374816.3_Silent_p.A108A|NRP1_ENST00000374822.4_Silent_p.A108A|NRP1_ENST00000374821.5_Silent_p.A108A|NRP1_ENST00000395995.1_Silent_p.A108A|NRP1_ENST00000374875.1_Intron			O14786	NRP1_HUMAN	neuropilin 1	108	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CAGGAGGAGGGGCTATCTTTC	0.388																																					Melanoma(104;886 1489 44640 45944 51153)												0													86	89	88					10																	33559709		2203	4300	6503	SO:0001819	synonymous_variant	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.324C>T	10.37:g.33559709G>A			B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.A108	ENST00000265371.4	37	c.324	CCDS7177.1	10																																																																																			NRP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB		0.388	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	G			33559709	-1	no_errors	ENST00000265371	ensembl	human	known	70_37	silent	SNP	0.925	A	A	33559709	G	A	33559709	2	1	166	1	0	0	0	0	0	0	0	1	10684	1219	43	4		4	NRP1	10	33559709	Silent	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09		33559709	101975038	18	31647										
OGDHL	55753	genome.wustl.edu	37	chr10	50966441	50966441	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gtggggatgctgaccttgtgGacactctgggggttttccaa	15	8	1	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr10:50966441G>T	ENST00000374103.4	-	2	283	c.198C>A	c.(196-198)gtC>gtA	p.V66V	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Silent_p.V66V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	66					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGACCTTGTGGACACTCTGGG	0.657																																																	0													67	70	69					10																	50966441		2203	4300	6503	SO:0001819	synonymous_variant	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.198C>A	10.37:g.50966441G>T			A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.V66	ENST00000374103.4	37	c.198	CCDS7234.1	10																																																																																			OGDHL	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.657	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	G	NM_018245		50966441	-1	no_errors	ENST00000374103	ensembl	human	known	70_37	silent	SNP	0.896	T	T	50966441	G	T	50966441	2	4	166	1	0	0	0	0	0	0	0	1	10864	1161	41	3		3	OGDHL	10	50966441	Silent	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	17406732	50966441	84568306	19	31648										
PIK3AP1	118788	genome.wustl.edu	37	chr10	98408502	98408502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gtggccatgcttgttggccaCgctgtacgcctgcagggctc	14	13	0	0	rs564621240		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr10:98408502C>T	ENST00000339364.5	-	7	1218	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.V189M|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	367					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TTGTTGGCCACGCTGTACGCC	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		21821	0		0	False		,,,				2504	0																0													113	88	96					10																	98408502		2203	4300	6503	SO:0001583	missense	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1099G>A	10.37:g.98408502C>T	ENSP00000339826:p.Val367Met		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.V367M	ENST00000339364.5	37	c.1099	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517929	0.85495	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.53640	0.61;1.9	5.79	5.79	0.91817	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	L	0.35414	1.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49051	-0.8979	10	0.21014	T	0.42	-22.8315	19.0248	0.92929	0.0:1.0:0.0:0.0	.	367	Q6ZUJ8	BCAP_HUMAN	M	367;189	ENSP00000339826:V367M;ENSP00000360151:V189M	ENSP00000339826:V367M	V	-	1	0	PIK3AP1	98398492	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	7.752000	0.85141	2.736000	0.93811	0.561000	0.74099	GTG	PIK3AP1	-	superfamily_Ankyrin_rpt-contain_dom		0.567	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	C	NM_152309		98408502	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98408502	C	T	98408502	3	4	166	1	0	0	0	0	1	0	0	0	11932	536	19	2	1362	2	PIK3AP1	10	98408502	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	47442061	98408502	37126245	20	31649										
C10orf62	414157	genome.wustl.edu	37	chr10	99350069	99350069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	aggagattgacacccaggggCggcacctggctcactccatg	13	13	1	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr10:99350069C>T	ENST00000370640.3	+	1	620	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	139										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CACCCAGGGGCGGCACCTGGC	0.612																																																	0													46	48	47					10																	99350069		2203	4300	6503	SO:0001583	missense	414157				CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.415C>T	10.37:g.99350069C>T	ENSP00000359674:p.Arg139Trp		Q49A70|Q8N3Y6	Missense_Mutation	SNP	NULL	p.R139W	ENST00000370640.3	37	c.415	CCDS31261.1	10	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766772	0.31320	.	.	ENSG00000203942	ENST00000370640	T	0.52295	0.67	5.27	4.36	0.52297	.	0.402479	0.18107	U	0.151463	T	0.48502	0.1503	N	0.14661	0.345	0.23304	N	0.997945	D	0.76494	0.999	D	0.64687	0.928	T	0.41106	-0.9527	10	0.72032	D	0.01	-7.837	11.3891	0.49804	0.1805:0.8195:0.0:0.0	.	139	Q5T681	CJ062_HUMAN	W	139	ENSP00000359674:R139W	ENSP00000359674:R139W	R	+	1	2	C10orf62	99340059	0.002000	0.14202	0.034000	0.17996	0.035000	0.12851	1.369000	0.34227	1.209000	0.43321	0.643000	0.83706	CGG	C10orf62	-	NULL		0.612	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf62	HGNC	protein_coding	OTTHUMT00000049723.1	C	NM_001009997		99350069	1	no_errors	ENST00000370640	ensembl	human	known	70_37	missense	SNP	0.013	T	T	99350069	C	T	99350069	3	4	166	1	0	0	0	0	1	0	0	0	1615	759	27	2	417	2	C10orf62	10	99350069	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	941567	99350069	36184678	21	31650										
CASP5	838	genome.wustl.edu	37	chr11	104878040	104878041	+	Frame_Shift_Ins	INS	-	-	T													0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gtattccaacatcttaactgINSttttttttttgtggttgtct					rs112680102|rs144697764		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr11:104878040_104878041insT	ENST00000260315.3	-	3	201_202	c.202_203insA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Frame_Shift_Ins_p.T35fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T81fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T10fs|CASP5_ENST00000393141.2_Frame_Shift_Ins_p.T81fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CATCTTAACTGTTTTTTTTTTG	0.356																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.203dupA	11.37:g.104878050_104878050dupT	ENSP00000260315:p.Thr68fs		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Ins	INS	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.T81fs	ENST00000260315.3	37	c.242_241	CCDS8328.2	11																																																																																			CASP5	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD		0.356	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	-	NM_004347		104878041	-1	no_errors	ENST00000393141	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T	T	104878041	-	T	104878040	7	5	166	1	0	1	1	0	0	0	0	0	2679	1377	48	0	1129	0	CASP5	11	104878040	Frame_Shift_Ins	INS	-	TCGA-JX-A5QV-01A-22D-A28B-09		104878040	30128476	22	31651										
A2M	2	genome.wustl.edu	37	chr12	9265031	9265031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	acaaagaccagactgtcctcGttcttaaccatcactgtggt	7	12	2	2	rs199872729		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:9265031G>A	ENST00000318602.7	-	3	679	c.372C>T	c.(370-372)aaC>aaT	p.N124N		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	124					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GACTGTCCTCGTTCTTAACCA	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		-128	0		0	False		,,,				2504	0																0													110	105	107					12																	9265031		1935	4158	6093	SO:0001819	synonymous_variant	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.372C>T	12.37:g.9265031G>A			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.N124	ENST00000318602.7	37	c.372	CCDS44827.1	12																																																																																			A2M	-	superfamily_Cupredoxin		0.448	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	G	NM_000014		9265031	-1	no_errors	ENST00000318602	ensembl	human	known	70_37	silent	SNP	0.000	A	A	9265031	G	A	9265031	2	1	166	1	0	0	0	0	0	0	0	1	4	1136	40	2		2	A2M	12	9265031	Silent	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09		9265031	124586864	23	31652										
AEBP2	121536	genome.wustl.edu	37	chr12	19615499	19615499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tttccagtgggcgttcaactCcagcaatgatgaatggacaa	10	9	1	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:19615499C>T	ENST00000398864.3	+	2	753	c.727C>T	c.(727-729)Cca>Tca	p.P243S	AEBP2_ENST00000541908.1_Missense_Mutation_p.P14S|AEBP2_ENST00000360995.4_Missense_Mutation_p.P27S|AEBP2_ENST00000266508.9_Missense_Mutation_p.P243S	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	243	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GCGTTCAACTCCAGCAATGAT	0.408																																																	0													81	73	75					12																	19615499		1916	4138	6054	SO:0001583	missense	121536				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.727C>T	12.37:g.19615499C>T	ENSP00000381840:p.Pro243Ser		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P243S	ENST00000398864.3	37	c.727	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606839	0.87157	.	.	ENSG00000139154	ENST00000538425;ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;T;D;D;T	0.91894	-2.26;-0.41;-2.93;-2.93;-0.34	5.28	5.28	0.74379	.	.	.	.	.	D	0.93462	0.7914	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93842	0.7137	9	0.54805	T	0.06	-13.9344	19.1132	0.93326	0.0:1.0:0.0:0.0	.	243	Q6ZN18	AEBP2_HUMAN	S	14;14;243;177;243;27	ENSP00000444255:P14S;ENSP00000437983:P14S;ENSP00000381840:P243S;ENSP00000266508:P243S;ENSP00000354267:P27S	ENSP00000266508:P243S	P	+	1	0	AEBP2	19506766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.736000	0.93811	0.655000	0.94253	CCA	AEBP2	-	NULL		0.408	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	HGNC	protein_coding	OTTHUMT00000401575.1	C	NM_153207		19615499	1	no_errors	ENST00000398864	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19615499	C	T	19615499	3	4	166	1	0	0	0	0	1	0	0	0	350	855	30	1	733	1	AEBP2	12	19615499	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	10350468	19615499	114236396	24	31653										
FAM113B	91523	genome.wustl.edu	37	chr12	47629036	47629036	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	aacaagatgagctggtggacGgaggccagcggggccacatg	17	9	0	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:47629036G>C	ENST00000546455.1	+	4	921	c.190G>C	c.(190-192)Gga>Cga	p.G64R	PCED1B_ENST00000432328.1_Missense_Mutation_p.G64R|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	64							hydrolase activity (GO:0016787)										GCTGGTGGACGGAGGCCAGCG	0.607																																																	0													93	82	86					12																	47629036		2203	4300	6503	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.190G>C	12.37:g.47629036G>C	ENSP00000446688:p.Gly64Arg		Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.G64R	ENST00000546455.1	37	c.190	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066572	0.55539	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.47177	1.34;1.34;0.85;0.86	3.79	3.79	0.43588	Esterase, SGNH hydrolase-type (1);	0.000000	0.64402	D	0.000009	T	0.65407	0.2688	M	0.67953	2.075	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.69684	-0.5079	10	0.87932	D	0	-21.7226	13.9718	0.64245	0.0:0.0:1.0:0.0	.	64	Q96HM7	F113B_HUMAN	R	64	ENSP00000446688:G64R;ENSP00000396040:G64R;ENSP00000449680:G64R;ENSP00000448000:G64R	ENSP00000396040:G64R	G	+	1	0	FAM113B	45915303	1.000000	0.71417	0.652000	0.29579	0.024000	0.10985	8.006000	0.88564	2.417000	0.82017	0.655000	0.94253	GGA	PCED1B	-	superfamily_Esterase_SGNH_hydro-type		0.607	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	G	NM_138371		47629036	1	no_errors	ENST00000432328	ensembl	human	known	70_37	missense	SNP	0.989	C	C	47629036	G	C	47629036	3	2	166	1	0	0	0	0	1	0	0	0	5417	1117	39	2	192	2	FAM113B	12	47629036	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	28013537	47629036	86222859	25	31654										
P2RX7	5027	genome.wustl.edu	37	chr12	121622293	121622293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	caactccctgagagccacagGtgcctggaggagctgtgctg	14	12	0	1	rs28969478		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:121622293G>A	ENST00000546057.1	+	13	1619	c.1476G>A	c.(1474-1476)agG>agA	p.R492R	P2RX7_ENST00000541446.1_Silent_p.R203R|P2RX7_ENST00000328963.5_Silent_p.R322R|P2RX7_ENST00000535250.1_Silent_p.R402R|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	492					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAGCCACAGGTGCCTGGAGG	0.602																																																	0													44	42	43					12																	121622293		2203	4300	6503	SO:0001819	synonymous_variant	5027			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1476G>A	12.37:g.121622293G>A			A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.R492	ENST00000546057.1	37	c.1476	CCDS9213.1	12																																																																																			P2RX7	-	NULL		0.602	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX7	HGNC	protein_coding	OTTHUMT00000402532.1	G	NM_002562		121622293	1	no_errors	ENST00000546057	ensembl	human	known	70_37	silent	SNP	0.000	A	A	121622293	G	A	121622293	2	1	166	1	0	0	0	0	0	0	0	1	11369	1252	44	4		4	P2RX7	12	121622293	Silent	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	73993257	121622293	12229602	26	31655										
RILPL1	353116	genome.wustl.edu	37	chr12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ttcttatctcgggagaagaaGctaaacctttggaagggaaa	11	6	2	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R|RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R|SNRNP35_ENST00000527158.2_3'UTR	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)		p.S358R(3)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGAGAAGAAGCTAAACCTTT	0.498																																																	3	Substitution - Missense(3)	kidney(2)|endometrium(1)											65	63	63					12																	123957223		1944	4154	6098	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.1074C>A	12.37:g.123957223G>T	ENSP00000366070:p.Ser358Arg		Q66K36|Q8N1M0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,pfam_RILP	p.S358R	ENST00000376874.4	37	c.1074	CCDS45006.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028945	0.75504	.	.	ENSG00000188026	ENST00000376874;ENST00000340724;ENST00000544468	T;T;T	0.27720	1.65;1.65;1.65	5.47	4.47	0.54385	.	.	.	.	.	T	0.37892	0.1020	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.991	T	0.11717	-1.0576	9	0.49607	T	0.09	-0.9352	6.5327	0.22336	0.2105:0.0:0.7895:0.0	.	358;207	Q5EBL4;Q5EBL4-3	RIPL1_HUMAN;.	R	358;238;31	ENSP00000366070:S358R;ENSP00000345874:S238R;ENSP00000442991:S31R	ENSP00000345874:S238R	S	-	3	2	RILPL1	122523176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	2.566000	0.86566	0.655000	0.94253	AGC	RILPL1	-	NULL		0.498	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL1	HGNC	protein_coding	OTTHUMT00000400595.1	G	NM_178314		123957223	-1	no_errors	ENST00000376874	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123957223	G	T	123957223	3	4	166	1	0	0	0	0	1	0	0	0	13391	962	34	4	141	4	RILPL1	12	123957223	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	2334930	123957223	9894672	27	31656										
SFRS8	6433	genome.wustl.edu	37	chr12	132239001	132239001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ccgagtatgtcgccaggaacGgcctgaagttcgagaccagt	13	11	0	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:132239001G>A	ENST00000261674.4	+	9	1552	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.G471S|RP11-495K9.5_ENST00000537032.1_lincRNA	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	471					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CGCCAGGAACGGCCTGAAGTT	0.547																																																	0													58	59	59					12																	132239001		2203	4300	6503	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1411G>A	12.37:g.132239001G>A	ENSP00000261674:p.Gly471Ser		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.G471S	ENST00000261674.4	37	c.1411	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.809175	0.96975	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.79749	-1.3;-1.3;-1.3	5.65	5.65	0.86999	SWAP/Surp (3);	0.000000	0.85682	D	0.000000	D	0.93064	0.7792	H	0.94222	3.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94419	0.7639	10	0.87932	D	0	-38.851	19.7254	0.96162	0.0:0.0:1.0:0.0	.	471;471;408	F5H6B8;Q12872;F5H525	.;SFSWA_HUMAN;.	S	471;408;264;471	ENSP00000261674:G471S;ENSP00000443045:G264S;ENSP00000437738:G471S	ENSP00000261674:G471S	G	+	1	0	SFSWAP	130804954	1.000000	0.71417	0.916000	0.36221	0.970000	0.65996	9.866000	0.99616	2.656000	0.90262	0.563000	0.77884	GGC	SFSWAP	-	pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp		0.547	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132239001	1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	1.000	A	A	132239001	G	A	132239001	3	1	166	1	0	0	0	0	1	0	0	0	14213	1116	39	2	1445	2	SFRS8	12	132239001	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	8281778	132239001	1612894	28	31657										
ZC3H13	23091	genome.wustl.edu	37	chr13	46549845	46549845	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	cctgtctcgttctcgttcccGatctctctctctagcccttt	5	17	5	0			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr13:46549845G>C	ENST00000242848.4	-	12	2389	c.2041C>G	c.(2041-2043)Cgg>Ggg	p.R681G	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R681G			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	681	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tctcgttcccgatctctctct	0.507																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													256	148	184					13																	46549845		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2041C>G	13.37:g.46549845G>C	ENSP00000242848:p.Arg681Gly		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R681G	ENST00000242848.4	37	c.2041		13	.	.	.	.	.	.	.	.	.	.	G	2.844	-0.239759	0.05944	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.38560	2.14;1.13	4.84	3.94	0.45596	.	0.000000	0.56097	D	0.000027	T	0.55878	0.1948	.	.	.	0.80722	D	1	D;D	0.60575	0.979;0.988	P;P	0.57911	0.68;0.829	T	0.58521	-0.7622	9	0.51188	T	0.08	.	11.5322	0.50616	0.0:0.0:0.6082:0.3918	.	681;681	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	G	681	ENSP00000242848:R681G;ENSP00000282007:R681G	ENSP00000242848:R681G	R	-	1	2	ZC3H13	45447846	0.260000	0.24053	0.977000	0.42913	0.223000	0.24884	0.450000	0.21762	1.239000	0.43787	0.557000	0.71058	CGG	ZC3H13	-	NULL		0.507	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	G	NM_015070		46549845	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	0.987	C	C	46549845	G	C	46549845	3	2	166	1	0	0	0	0	1	0	0	0	17595	1057	37	1	2677	1	ZC3H13	13	46549845	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09		46549845	68620033	29	31658										
BDKRB2	624	genome.wustl.edu	37	chr14	96707124	96707124	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ttcctgatgctggtgagcatCgaccgctacctggccctggt	12	13	0	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr14:96707124C>T	ENST00000306005.3	+	3	655	c.459C>T	c.(457-459)atC>atT	p.I153I	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.I153I|BDKRB2_ENST00000539359.1_Silent_p.I126I|BDKRB2_ENST00000542454.2_Silent_p.I126I	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	153					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	TGGTGAGCATCGACCGCTACC	0.592																																																	0													123	124	124					14																	96707124		2203	4300	6503	SO:0001819	synonymous_variant	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.459C>T	14.37:g.96707124C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_B2_bradkn_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt	p.I153	ENST00000306005.3	37	c.459	CCDS9942.1	14																																																																																			BDKRB2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.592	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	HGNC	protein_coding	OTTHUMT00000413294.1	C			96707124	1	no_errors	ENST00000306005	ensembl	human	known	70_37	silent	SNP	0.859	T	T	96707124	C	T	96707124	2	4	166	1	0	0	0	0	0	0	0	1	1394	874	31	1		1	BDKRB2	14	96707124	Silent	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09		96707124	10642416	30	31659										
RYR3	6263	genome.wustl.edu	37	chr15	34112005	34112005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tcctattccagcatgatggcCaaggtacacccaggttttct	8	12	1	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:34112005C>T	ENST00000389232.4	+	77	10825	c.10755C>T	c.(10753-10755)gcC>gcT	p.A3585A	RYR3_ENST00000415757.3_Silent_p.A3580A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3585					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCATGATGGCCAAGGTACACC	0.408																																																	0													333	316	321					15																	34112005		1862	4102	5964	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10755C>T	15.37:g.34112005C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A3585	ENST00000389232.4	37	c.10755	CCDS45210.1	15																																																																																			RYR3	-	superfamily_ARM-type_fold		0.408	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34112005	1	no_errors	ENST00000389232	ensembl	human	known	70_37	silent	SNP	1.000	T	T	34112005	C	T	34112005	2	4	166	1	0	0	0	0	0	0	0	1	13800	581	21	4		4	RYR3	15	34112005	Silent	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09		34112005	68419387	31	31660										
EHD4	30844	genome.wustl.edu	37	chr15	42211424	42211424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ttaccttggccagcctcgctCgcttgatgaggtcgttgagc	12	12	0	3			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:42211424C>T	ENST00000220325.4	-	4	991	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CTD-2382E5.4_ENST00000564168.1_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	303					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CAGCCTCGCTCGCTTGATGAG	0.632																																																	0													48	43	45					15																	42211424		2203	4299	6502	SO:0001583	missense	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.908G>A	15.37:g.42211424C>T	ENSP00000220325:p.Arg303Gln		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.R303Q	ENST00000220325.4	37	c.908	CCDS10081.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.369597	0.95900	.	.	ENSG00000103966	ENST00000220325	D	0.95622	-3.76	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99782	1.1028	10	0.87932	D	0	-7.3038	18.6121	0.91290	0.0:1.0:0.0:0.0	.	303	Q9H223	EHD4_HUMAN	Q	303	ENSP00000220325:R303Q	ENSP00000220325:R303Q	R	-	2	0	EHD4	39998716	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.404000	0.81709	0.650000	0.86243	CGA	EHD4	-	NULL		0.632	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	C	NM_139265		42211424	-1	no_errors	ENST00000220325	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42211424	C	T	42211424	3	4	166	1	0	0	0	0	1	0	0	0	4990	884	31	1	729	1	EHD4	15	42211424	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	8099419	42211424	60319968	32	31661										
SLC28A2	9153	genome.wustl.edu	37	chr15	45559935	45559935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ctcgcctcatcaaagctagcGtatccggaagtggaggagtc	12	11	2	0	rs17215626		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:45559935G>A	ENST00000347644.3	+	12	1205	c.1140G>A	c.(1138-1140)gcG>gcA	p.A380A	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	380					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CAAAGCTAGCGTATCCGGAAG	0.557																																					NSCLC(92;493 1501 26361 28917 47116)												0								G		1,4395	2.1+/-5.4	0,1,2197	140	142	141		1140	-9.7	0.7	15	dbSNP_126	141	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	SLC28A2	NM_004212.3		0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154		380/659	45559935	2,12990	2198	4298	6496	SO:0001819	synonymous_variant	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1140G>A	15.37:g.45559935G>A			A8K7F9|O43239|Q52LZ0	Silent	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.A380	ENST00000347644.3	37	c.1140	CCDS10121.1	15																																																																																			SLC28A2	-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac		0.557	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A2	HGNC	protein_coding	OTTHUMT00000254219.2	G	NM_004212		45559935	1	no_errors	ENST00000347644	ensembl	human	known	70_37	silent	SNP	0.328	A	A	45559935	G	A	45559935	2	1	166	1	0	0	0	0	0	0	0	1	14562	1132	40	2		2	SLC28A2	15	45559935	Silent	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	3348511	45559935	56971457	33	31662										
HAPLN3	145864	genome.wustl.edu	37	chr15	89421436	89421436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	catcttcctggcaggcctccCttgcctctgtcagcgtcagc	9	17	4	0			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:89421436C>T	ENST00000359595.3	-	5	1062	c.848G>A	c.(847-849)aGg>aAg	p.R283K	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R345K	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	283	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GCAGGCCTCCCTTGCCTCTGT	0.657																																																	0													144	131	136					15																	89421436		2200	4299	6499	SO:0001583	missense	145864			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.848G>A	15.37:g.89421436C>T	ENSP00000352606:p.Arg283Lys		A8K7P0	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link	p.R283K	ENST00000359595.3	37	c.848	CCDS10346.1	15	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.816929	0.00595	.	.	ENSG00000140511	ENST00000359595	T	0.28255	1.62	4.7	-3.35	0.04928	C-type lectin fold (1);Link (3);C-type lectin-like (1);	1.109350	0.06658	N	0.763906	T	0.13329	0.0323	N	0.13235	0.315	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.33007	-0.9885	10	0.06099	T	0.92	-13.9042	6.5173	0.22254	0.0:0.4166:0.1305:0.4529	.	283;283	A8K7T8;Q96S86	.;HPLN3_HUMAN	K	283	ENSP00000352606:R283K	ENSP00000352606:R283K	R	-	2	0	HAPLN3	87222440	0.001000	0.12720	0.003000	0.11579	0.013000	0.08279	-0.096000	0.11059	-0.888000	0.03956	-0.813000	0.03139	AGG	HAPLN3	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN3	HGNC	protein_coding	OTTHUMT00000309070.1	C	NM_178232		89421436	-1	no_errors	ENST00000359595	ensembl	human	known	70_37	missense	SNP	0.000	T	T	89421436	C	T	89421436	3	4	166	1	0	0	0	0	1	0	0	0	6976	681	24	4	238	4	HAPLN3	15	89421436	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	43861501	89421436	13109956	34	31663										
IQGAP1	8826	genome.wustl.edu	37	chr15	90996413	90996413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	cgcagtggagatgttgtcatCggtggccctgatcaacaggg	15	9	2	2	rs546591604		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:90996413C>T	ENST00000268182.5	+	13	1500	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	459					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGTTGTCATCGGTGGCCCTG	0.468																																																	0													187	172	177					15																	90996413		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1376C>T	15.37:g.90996413C>T	ENSP00000268182:p.Ser459Leu		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.S459L	ENST00000268182.5	37	c.1376	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765207	0.49574	.	.	ENSG00000140575	ENST00000268182	T	0.11495	2.77	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.12860	0.0312	L	0.50333	1.59	0.80722	D	1	P	0.43477	0.808	B	0.36666	0.23	T	0.02244	-1.1189	10	0.72032	D	0.01	-9.6923	17.6244	0.88091	0.0:1.0:0.0:0.0	.	459	P46940	IQGA1_HUMAN	L	459	ENSP00000268182:S459L	ENSP00000268182:S459L	S	+	2	0	IQGAP1	88797417	1.000000	0.71417	0.100000	0.21137	0.104000	0.19210	7.588000	0.82629	2.635000	0.89317	0.655000	0.94253	TCG	IQGAP1	-	NULL		0.468	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	C	NM_003870		90996413	1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	0.937	T	T	90996413	C	T	90996413	3	4	166	1	0	0	0	0	1	0	0	0	7834	893	31	1	1426	1	IQGAP1	15	90996413	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	1574977	90996413	11534979	35	31664										
ITGAE	3682	genome.wustl.edu	37	chr17	3655127	3655127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	aagcgggcattggtgaacccGgggtgcccactcagtatgcg	15	11	1	1	rs144011498		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:3655127G>A	ENST00000263087.4	-	15	1808	c.1710C>T	c.(1708-1710)ccC>ccT	p.P570P		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	570					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGGTGAACCCGGGGTGCCCAC	0.572																																					NSCLC(182;635 2928 8995 38788)												0								G		0,4406		0,0,2203	60	63	62		1710	-7.8	0	17	dbSNP_134	62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ITGAE	NM_002208.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		570/1180	3655127	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1710C>T	17.37:g.3655127G>A			Q17RS6|Q9NZU9	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.P570	ENST00000263087.4	37	c.1710	CCDS32531.1	17																																																																																			ITGAE	-	NULL		0.572	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	G	NM_002208		3655127	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	silent	SNP	0.000	A	A	3655127	G	A	3655127	2	1	166	1	0	0	0	0	0	0	0	1	7905	1103	39	2		2	ITGAE	17	3655127	Silent	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09		3655127	77540083	36	31665										
SLFN5	162394	genome.wustl.edu	37	chr17	33592730	33592730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ctacagatcggtgatgcgtcGgatgttctaaccgatcacat	10	10	2	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:33592730G>A	ENST00000299977.4	+	5	2647	c.2499G>A	c.(2497-2499)tcG>tcA	p.S833S	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	833					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTGATGCGTCGGATGTTCTAA	0.453																																																	0													93	83	86					17																	33592730		2203	4300	6503	SO:0001819	synonymous_variant	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2499G>A	17.37:g.33592730G>A			Q08AF2|Q8WU54|Q96A82	Silent	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.S833	ENST00000299977.4	37	c.2499	CCDS32619.1	17																																																																																			SLFN5	-	NULL		0.453	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	G	NM_144975		33592730	1	no_errors	ENST00000299977	ensembl	human	known	70_37	silent	SNP	0.003	A	A	33592730	G	A	33592730	2	1	166	1	0	0	0	0	0	0	0	1	14767	1103	39	2		2	SLFN5	17	33592730	Silent	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	29937603	33592730	47602480	37	31666										
C17orf53	78995	genome.wustl.edu	37	chr17	42232292	42232292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	agctgaagcctggctcagtgCtgctgctgaagcaggtatgg	15	9	1	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:42232292C>T	ENST00000319977.4	+	7	1870	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	C17orf53_ENST00000245382.6_Silent_p.L469L|C17orf53_ENST00000585683.1_Silent_p.L544L	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	545										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGCTCAGTGCTGCTGCTGAA	0.587																																																	0													70	60	64					17																	42232292		2203	4300	6503	SO:0001819	synonymous_variant	78995			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1633C>T	17.37:g.42232292C>T			A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	NULL	p.L545	ENST00000319977.4	37	c.1633	CCDS11477.1	17																																																																																			C17orf53	-	NULL		0.587	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	C	NM_024032		42232292	1	no_errors	ENST00000319977	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42232292	C	T	42232292	2	4	166	1	0	0	0	0	0	0	0	1	1866	796	28	4		4	C17orf53	17	42232292	Silent	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	8639562	42232292	38962918	38	31667										
TTLL6	284076	genome.wustl.edu	37	chr17	46846573	46846573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	agctgcctcttctcgccagaGctgtcactgcgggagtggca	13	13	3	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:46846573G>T	ENST00000393382.3	-	15	2595	c.2454C>A	c.(2452-2454)agC>agA	p.S818R	TTLL6_ENST00000433608.2_Missense_Mutation_p.S511R	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTCGCCAGAGCTGTCACTGC	0.547																																																	0													45	47	46					17																	46846573		2203	4300	6503	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2454C>A	17.37:g.46846573G>T	ENSP00000377043:p.Ser818Arg			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S818R	ENST00000393382.3	37	c.2454	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588845	0.66105	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	T	0.17854	2.25	5.58	2.49	0.30216	.	.	.	.	.	T	0.32912	0.0845	L	0.56769	1.78	0.26759	N	0.970037	D;D	0.76494	0.999;0.998	D;D	0.69479	0.96;0.964	T	0.05370	-1.0889	9	0.72032	D	0.01	.	8.0272	0.30444	0.2685:0.0:0.7315:0.0	.	770;511	Q8N841;G5E937	TTLL6_HUMAN;.	R	818;511;496;770	ENSP00000399211:S496R	ENSP00000302547:S511R	S	-	3	2	TTLL6	44201572	0.982000	0.34865	0.829000	0.32907	0.218000	0.24690	1.300000	0.33436	0.844000	0.35094	0.462000	0.41574	AGC	TTLL6	-	NULL		0.547	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	G	NM_173623		46846573	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	missense	SNP	0.822	T	T	46846573	G	T	46846573	3	4	166	1	0	0	0	0	1	0	0	0	16762	962	34	4	225	4	TTLL6	17	46846573	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	4614281	46846573	34348637	39	31668										
KIAA0195	9772	genome.wustl.edu	37	chr17	73491058	73491058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	atggtgacatgcctggctccGagatccccccctccagcccc	9	19	0	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:73491058G>A	ENST00000314256.7	+	20	3065	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	KIAA0195_ENST00000375248.5_Missense_Mutation_p.E901K|KIAA0195_ENST00000579208.1_Missense_Mutation_p.E542K|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	891						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGGCTCCGAGATCCCCCC	0.627																																																	0													57	62	61					17																	73491058		2203	4300	6503	SO:0001583	missense	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2671G>A	17.37:g.73491058G>A	ENSP00000313885:p.Glu891Lys		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.E891K	ENST00000314256.7	37	c.2671	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515992	0.44763	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.41065	1.01;1.01	5.66	5.66	0.87406	.	0.241788	0.42172	D	0.000743	T	0.32285	0.0824	L	0.29908	0.895	0.80722	D	1	P;P;P	0.50443	0.893;0.935;0.649	B;B;B	0.39027	0.15;0.288;0.097	T	0.06162	-1.0842	10	0.16896	T	0.51	-19.9095	19.7417	0.96234	0.0:0.0:1.0:0.0	.	901;901;891	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	K	891;901	ENSP00000313885:E891K;ENSP00000364397:E901K	ENSP00000313885:E891K	E	+	1	0	KIAA0195	71002653	1.000000	0.71417	0.987000	0.45799	0.223000	0.24884	9.119000	0.94362	2.667000	0.90743	0.563000	0.77884	GAG	KIAA0195	-	NULL		0.627	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	G	NM_014738		73491058	1	no_errors	ENST00000314256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73491058	G	A	73491058	3	1	166	1	0	0	0	0	1	0	0	0	8180	1059	37	1	2745	1	KIAA0195	17	73491058	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	26644485	73491058	7704152	40	31669										
CDH7	1005	genome.wustl.edu	37	chr18	63547856	63547856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	agaaattcaattcctgagtcGaccagcttttaaaagcatcc	6	10	1	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr18:63547856G>A	ENST00000397968.2	+	12	2510	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	CDH7_ENST00000323011.3_Missense_Mutation_p.R695Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	695					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCCTGAGTCGACCAGCTTTT	0.458																																																	0													91	97	95					18																	63547856		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2084G>A	18.37:g.63547856G>A	ENSP00000381058:p.Arg695Gln		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R695Q	ENST00000397968.2	37	c.2084	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470720	0.63625	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.76060	-0.99;-0.99	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.072966	0.52532	D	0.000061	T	0.72542	0.3473	L	0.31578	0.945	0.58432	D	0.999993	P	0.51653	0.947	P	0.49012	0.598	T	0.73408	-0.3992	10	0.42905	T	0.14	.	19.1123	0.93321	0.0:0.0:1.0:0.0	.	695	Q9ULB5	CADH7_HUMAN	Q	695	ENSP00000319166:R695Q;ENSP00000381058:R695Q	ENSP00000319166:R695Q	R	+	2	0	CDH7	61698836	1.000000	0.71417	0.853000	0.33588	0.545000	0.35147	8.897000	0.92532	2.515000	0.84797	0.655000	0.94253	CGA	CDH7	-	pfam_Cadherin_cytoplasmic-dom		0.458	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	G	NM_033646		63547856	1	no_errors	ENST00000323011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63547856	G	A	63547856	3	1	166	1	0	0	0	0	1	0	0	0	3120	1058	37	1	2126	1	CDH7	18	63547856	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09		63547856	14529392	41	31670										
GIPR	2696	genome.wustl.edu	37	chr19	46174549	46174549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gtgcccacccccaggcctcgCctgtaacgggtccttcgata	10	17	0	0			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr19:46174549C>A	ENST00000590918.1	+	4	278	c.179C>A	c.(178-180)gCc>gAc	p.A60D	GIPR_ENST00000304207.8_Intron|GIPR_ENST00000263281.3_Missense_Mutation_p.A60D	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	60					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)	p.A60V(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCAGGCCTCGCCTGTAACGGG	0.657																																																	1	Substitution - Missense(1)	skin(1)											109	88	95					19																	46174549		2203	4300	6503	SO:0001583	missense	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.179C>A	19.37:g.46174549C>A	ENSP00000467494:p.Ala60Asp		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.A60D	ENST00000590918.1	37	c.179	CCDS12671.1	19	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566009	0.65651	.	.	ENSG00000010310	ENST00000263281	T	0.64085	-0.08	5.49	4.46	0.54185	GPCR, family 2, extracellular hormone receptor domain (3);	0.122392	0.37348	N	0.002131	T	0.53690	0.1812	L	0.39898	1.24	0.80722	D	1	B;B	0.26876	0.161;0.162	B;B	0.36504	0.226;0.091	T	0.52510	-0.8566	10	0.37606	T	0.19	.	7.4425	0.27192	0.0:0.8211:0.0:0.1789	.	60;60	P48546;P48546-2	GIPR_HUMAN;.	D	60	ENSP00000263281:A60D	ENSP00000263281:A60D	A	+	2	0	GIPR	50866389	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.843000	0.55865	2.592000	0.87571	0.542000	0.68232	GCC	GIPR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom		0.657	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	C			46174549	1	no_errors	ENST00000590918	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46174549	C	A	46174549	3	1	166	1	0	0	0	0	1	0	0	0	6414	739	26	4	189	4	GIPR	19	46174549	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09		46174549	12954434	42	31671										
HIF3A	64344	genome.wustl.edu	37	chr19	46807342	46807342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gcatgcaccgcctctgcgccGcaggtgagccccgcccgcgg	14	19	1	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr19:46807342G>A	ENST00000377670.4	+	2	245	c.214G>A	c.(214-216)Gca>Aca	p.A72T	RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000339613.2_Missense_Mutation_p.A16T|HIF3A_ENST00000300862.3_Missense_Mutation_p.A70T|HIF3A_ENST00000244303.6_Silent_p.P51P|HIF3A_ENST00000420102.2_Silent_p.P69P|HIF3A_ENST00000472815.1_Silent_p.P51P|HIF3A_ENST00000600383.1_Silent_p.P51P	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	72					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTCTGCGCCGCAGGTGAGCC	0.662																																																	0													4	6	5					19																	46807342		2127	4159	6286	SO:0001583	missense	64344			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.214G>A	19.37:g.46807342G>A	ENSP00000366898:p.Ala72Thr		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.A72T	ENST00000377670.4	37	c.214	CCDS12681.2	19	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041509	0.35989	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000339613;ENST00000472815;ENST00000291300;ENST00000300862	T;T;T	0.56611	0.52;0.45;0.52	4.68	3.64	0.41730	Helix-loop-helix DNA-binding (2);	0.352724	0.20785	N	0.085727	T	0.28101	0.0693	N	0.12637	0.245	0.38939	D	0.958113	P;P;P;P;B	0.43314	0.803;0.703;0.703;0.663;0.271	B;B;B;B;B	0.32724	0.151;0.048;0.072;0.097;0.086	T	0.11690	-1.0577	10	0.21540	T	0.41	.	12.3565	0.55178	0.0:0.0:0.83:0.17	.	70;16;72;72;72	Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;HIF3A_HUMAN;.;.	T	72;72;72;72;16;93;16;70	ENSP00000366898:A72T;ENSP00000341877:A16T;ENSP00000300862:A70T	ENSP00000244302:A72T	A	+	1	0	HIF3A	51499182	0.009000	0.17119	1.000000	0.80357	0.510000	0.34073	0.410000	0.21098	1.331000	0.45412	-0.261000	0.10672	GCA	HIF3A	-	superfamily_HLH_dom,smart_HLH_dom		0.662	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	G			46807342	1	no_errors	ENST00000377670	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46807342	G	A	46807342	3	1	166	1	0	0	0	0	1	0	0	0	7125	1087	38	2	244	2	HIF3A	19	46807342	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	632793	46807342	12321641	43	31672										
TMEM143	55260	genome.wustl.edu	37	chr19	48836562	48836562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tttggggaaacccgggggtgGgtacaatcccatgctggggg	18	8	0	0			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr19:48836562G>A	ENST00000293261.3	-	8	1610	c.1294C>T	c.(1294-1296)Cca>Tca	p.P432S	TMEM143_ENST00000436660.2_Missense_Mutation_p.P367S|TMEM143_ENST00000377431.2_Missense_Mutation_p.P332S|TMEM143_ENST00000541566.1_Missense_Mutation_p.P322S|TMEM143_ENST00000435956.3_Missense_Mutation_p.P397S	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	432					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCCGGGGGTGGGTACAATCCC	0.617																																																	0													48	51	50					19																	48836562		2203	4300	6503	SO:0001583	missense	55260			AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1294C>T	19.37:g.48836562G>A	ENSP00000293261:p.Pro432Ser		A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	pfam_DUF3754	p.P432S	ENST00000293261.3	37	c.1294	CCDS12716.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561260	0.86335	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.63417	-0.04;0.16;0.0	4.27	4.27	0.50696	.	0.000000	0.38058	N	0.001824	T	0.68650	0.3024	L	0.29908	0.895	0.39410	D	0.966749	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.996;0.996	T	0.72839	-0.4171	10	0.59425	D	0.04	-19.9274	14.576	0.68246	0.0:0.0:1.0:0.0	.	367;332;397;432	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	S	432;332;397;367;322	ENSP00000293261:P432S;ENSP00000397038:P397S;ENSP00000444275:P322S	ENSP00000293261:P432S	P	-	1	0	TMEM143	53528374	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	4.785000	0.62418	2.393000	0.81446	0.462000	0.41574	CCA	TMEM143	-	NULL		0.617	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM143	HGNC	protein_coding	OTTHUMT00000465622.1	G	NM_018273		48836562	-1	no_errors	ENST00000293261	ensembl	human	known	70_37	missense	SNP	0.960	A	A	48836562	G	A	48836562	3	1	166	1	0	0	0	0	1	0	0	0	16087	1232	43	4	89	4	TMEM143	19	48836562	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	2029220	48836562	10292421	44	31673										
UBQLN2	29978	genome.wustl.edu	37	chrX	56590601	56590601	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	tccatgatgggctgactgttCaccttgtcatcaaaagccag	9	11	3	2			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrX:56590601C>T	ENST00000338222.5	+	1	576	c.295C>T	c.(295-297)Cac>Tac	p.H99Y		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	99	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCTGACTGTTCACCTTGTCAT	0.507																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0													44	44	44					X																	56590601		2203	4300	6503	SO:0001583	missense	29978			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.295C>T	X.37:g.56590601C>T	ENSP00000345195:p.His99Tyr		O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.H99Y	ENST00000338222.5	37	c.295	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531742	0.45073	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.77229	-1.08	4.73	4.73	0.59995	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.75447	2.3	0.80722	D	1	P;D	0.76494	0.911;0.999	D;D	0.91635	0.981;0.999	D	0.87858	0.2662	10	0.56958	D	0.05	-11.451	14.365	0.66801	0.0:1.0:0.0:0.0	.	99;99	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	Y	99	ENSP00000345195:H99Y	ENSP00000345195:H99Y	H	+	1	0	UBQLN2	56607326	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	7.585000	0.82584	2.358000	0.79984	0.600000	0.82982	CAC	UBQLN2	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.507	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	HGNC	protein_coding	OTTHUMT00000056891.1	C	NM_013444		56590601	1	no_errors	ENST00000338222	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56590601	C	T	56590601	3	4	166	1	0	0	0	0	1	0	0	0	16928	826	29	1	297	1	UBQLN2	23	56590601	Missense_Mutation	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09		56590601	98679959	45	31674										
P2RY4	5030	genome.wustl.edu	37	chrX	69478492	69478492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gggaagaggcagccgtgcggGgctggggcttgccaccacca	18	12	0	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrX:69478492G>A	ENST00000374519.2	-	1	1162	c.983C>T	c.(982-984)cCc>cTc	p.P328L		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	328					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGCCGTGCGGGGCTGGGGCTT	0.632																																																	0													34	32	33					X																	69478492		2203	4300	6503	SO:0001583	missense	5030			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.983C>T	X.37:g.69478492G>A	ENSP00000363643:p.Pro328Leu		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor	p.P328L	ENST00000374519.2	37	c.983	CCDS14398.1	X	.	.	.	.	.	.	.	.	.	.	G	7.752	0.703597	0.15172	.	.	ENSG00000186912	ENST00000374519	T	0.24723	1.84	4.7	2.85	0.33270	.	0.883384	0.09295	U	0.821712	T	0.11537	0.0281	N	0.08118	0	0.09310	N	1	B	0.31435	0.323	B	0.23716	0.048	T	0.24012	-1.0172	10	0.26408	T	0.33	.	6.8361	0.23937	0.1014:0.3592:0.5394:0.0	.	328	P51582	P2RY4_HUMAN	L	328	ENSP00000363643:P328L	ENSP00000363643:P328L	P	-	2	0	P2RY4	69395217	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-0.121000	0.10643	0.961000	0.38030	0.589000	0.80489	CCC	P2RY4	-	prints_P2Y4_purnocptor		0.632	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	HGNC	protein_coding	OTTHUMT00000057058.2	G	NM_002565		69478492	-1	no_errors	ENST00000374519	ensembl	human	known	70_37	missense	SNP	0.001	A	A	69478492	G	A	69478492	3	1	166	1	0	0	0	0	1	0	0	0	11377	1232	43	4	118	4	P2RY4	23	69478492	Missense_Mutation	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	12887891	69478492	85792068	46	31675										
BCORL1	63035	genome.wustl.edu	37	chrX	129171479	129171479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	ctgctggagcacggggccaaCgtgaactgcagtgcgcagga	16	11	0	1	rs145380229	byFrequency	TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrX:129171479C>T	ENST00000218147.7	+	9	4640	c.4443C>T	c.(4441-4443)aaC>aaT	p.N1481N	BCORL1_ENST00000540052.1_Silent_p.N1481N|BCORL1_ENST00000303743.5_Silent_p.N1555N|BCORL1_ENST00000359304.2_Silent_p.N1351N			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1481					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACGGGGCCAACGTGAACTGCA	0.617																																																	0								C		1,3834		0,0,1,1632,570	111	81	91		4443	-10.4	0.8	X	dbSNP_134	91	0,6728		0,0,0,2428,1872	no	coding-synonymous	BCORL1	NM_021946.4		0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095		1481/1712	129171479	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4443C>T	X.37:g.129171479C>T			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N1555	ENST00000218147.7	37	c.4665	CCDS14616.1	X																																																																																			BCORL1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	C	NM_021946		129171479	1	no_errors	ENST00000303743	ensembl	human	known	70_37	silent	SNP	0.481	T	T	129171479	C	T	129171479	2	4	166	1	0	0	0	0	0	0	0	1	1388	535	19	2		2	BCORL1	23	129171479	Silent	SNP	C	TCGA-JX-A5QV-01A-22D-A28B-09	59692987	129171479	26099081	47	31676										
PDZD4	57595	genome.wustl.edu	37	chrX	153069983	153069983	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	4	0.757414625410468	0.892696858425133	2.82687338501292	0.726910299003322	0.485714285714286	0.713852813852814	0	gctgttgcctccggaggcccGgggaaagaggaggcccagct	17	12	0	1			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrX:153069983G>T	ENST00000164640.4	-	8	1326	c.1135C>A	c.(1135-1137)Cgg>Agg	p.R379R	PDZD4_ENST00000393758.2_Silent_p.R304R|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Silent_p.R270R	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	379						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGAGGCCCGGGGAAAGAGG	0.637																																																	0													44	40	42					X																	153069983		2203	4299	6502	SO:0001819	synonymous_variant	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1135C>A	X.37:g.153069983G>T			B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R379	ENST00000164640.4	37	c.1135	CCDS14732.1	X																																																																																			PDZD4	-	NULL		0.637	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	G	NM_032512		153069983	-1	no_errors	ENST00000164640	ensembl	human	known	70_37	silent	SNP	0.021	T	T	153069983	G	T	153069983	2	4	166	1	0	0	0	0	0	0	0	1	11727	1115	39	2		2	PDZD4	23	153069983	Silent	SNP	G	TCGA-JX-A5QV-01A-22D-A28B-09	23898504	153069983	2200577	48	31677										
MACF1	23499	genome.wustl.edu	37	chr1	39789874	39789874	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tcctattctagaaagtggtaGaagaggagaaacaagaacat	10	5	1	5			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:39789874G>A	ENST00000372915.3	+	33	4348	c.4261G>A	c.(4261-4263)Gaa>Aaa	p.E1421K	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.E1421K|MACF1_ENST00000317713.7_Missense_Mutation_p.E1421K|MACF1_ENST00000567887.1_Missense_Mutation_p.E1453K|MACF1_ENST00000564288.1_Missense_Mutation_p.E1416K|MACF1_ENST00000545844.1_Missense_Mutation_p.E1421K|MACF1_ENST00000539005.1_Missense_Mutation_p.E1421K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1421					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAAGTGGTAGAAGAGGAGAA	0.393																																																	0													80	78	79					1																	39789874		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4261G>A	1.37:g.39789874G>A	ENSP00000362006:p.Glu1421Lys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E1421K	ENST00000372915.3	37	c.4261		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.968806|3.968806	0.74131|0.74131	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262|ENST00000372925	T;T;T;T;T;T|.	0.65732|.	-0.11;-0.17;-0.11;-0.16;0.04;2.02|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|.	.|.	.|.	.|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;B|.	0.62365|.	0.991;0.971;0.02|.	D;P;B|.	0.65874|.	0.939;0.717;0.03|.	T|T	0.71879|0.71879	-0.4459|-0.4459	9|5	0.25751|.	T|.	0.34|.	.|.	20.4549|20.4549	0.99139|0.99139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1421;1421;1386|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	K|K	1421;1421;1421;1421;1421;1570|554	ENSP00000439537:E1421K;ENSP00000362006:E1421K;ENSP00000354573:E1421K;ENSP00000313438:E1421K;ENSP00000444364:E1421K;ENSP00000437059:E1570K|.	ENSP00000313438:E1421K|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39562461|39562461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.608000|8.608000	0.90895|0.90895	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|AGA	MACF1	-	NULL		0.393	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39789874	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39789874	G	A	39789874	3	1	167	1	0	0	0	0	1	0	0	0	9167	943	33	1	4391	1	MACF1	1	39789874	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09		39789874	209460747	1	31678										
ELAVL4	1996	genome.wustl.edu	37	chr1	50661260	50661260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	cagaggggtgggattcatccGctttgataagaggattgagg	16	5	1	4			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:50661260G>A	ENST00000371823.4	+	5	760	c.536G>A	c.(535-537)cGc>cAc	p.R179H	ELAVL4_ENST00000371827.1_Missense_Mutation_p.R179H|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R184H|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R196H|ELAVL4_ENST00000371824.1_Missense_Mutation_p.R179H|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R184H|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R182H	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	179	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGATTCATCCGCTTTGATAAG	0.493																																																	0													96	99	98					1																	50661260		2203	4300	6503	SO:0001583	missense	1996			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.536G>A	1.37:g.50661260G>A	ENSP00000360888:p.Arg179His		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.R184H	ENST00000371823.4	37	c.551	CCDS553.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.573234	0.96553	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	L	0.42529	1.33	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.997;0.999;0.996;1.0;0.995;0.99;0.992	P;D;P;D;P;P;P	0.76575	0.841;0.963;0.64;0.988;0.717;0.655;0.767	T	0.00516	-1.1694	10	0.30854	T	0.27	.	20.2087	0.98285	0.0:0.0:1.0:0.0	.	184;184;179;179;196;179;182	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	H	182;179;196;179;179;184;184	ENSP00000399939:R182H;ENSP00000360892:R179H;ENSP00000349594:R196H;ENSP00000360889:R179H;ENSP00000360888:R179H;ENSP00000360886:R184H;ENSP00000360884:R184H	ENSP00000349594:R196H	R	+	2	0	ELAVL4	50433847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.791000	0.96007	0.655000	0.94253	CGC	ELAVL4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF		0.493	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	G	NM_021952		50661260	1	no_errors	ENST00000371821	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50661260	G	A	50661260	3	1	167	1	0	0	0	0	1	0	0	0	5064	1087	38	2	653	2	ELAVL4	1	50661260	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	10871386	50661260	198589361	2	31679										
GPX7	2882	genome.wustl.edu	37	chr1	53072514	53072514	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	gagcctgacagcaacaaggaGattgagagctttgcccgccg	13	11	0	3			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:53072514G>A	ENST00000361314.4	+	2	335	c.297G>A	c.(295-297)gaG>gaA	p.E99E	GPX7_ENST00000459779.1_3'UTR	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	99					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	GCAACAAGGAGATTGAGAGCT	0.582																																																	0													142	132	135					1																	53072514		2203	4300	6503	SO:0001819	synonymous_variant	2882			AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.297G>A	1.37:g.53072514G>A			O95337|Q5T501	Silent	SNP	pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	p.E99	ENST00000361314.4	37	c.297	CCDS569.1	1																																																																																			GPX7	-	pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7		0.582	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX7	HGNC	protein_coding	OTTHUMT00000022913.1	G	NM_015696		53072514	1	no_errors	ENST00000361314	ensembl	human	known	70_37	silent	SNP	1.000	A	A	53072514	G	A	53072514	2	1	167	1	0	0	0	0	0	0	0	1	6765	933	33	1		1	GPX7	1	53072514	Silent	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	2411254	53072514	196178107	3	31680										
ITGA10	8515	genome.wustl.edu	37	chr1	145534935	145534935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tgccctcagctactttggccGaagtgtggatggtcggctag	14	10	1	0			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:145534935G>A	ENST00000369304.3	+	15	2013	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.R482Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R470Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	613					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R613Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTTTGGCCGAAGTGTGGAT	0.577																																																	1	Substitution - Missense(1)	prostate(1)											181	151	161					1																	145534935		2203	4300	6503	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1838G>A	1.37:g.145534935G>A	ENSP00000358310:p.Arg613Gln		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R613Q	ENST00000369304.3	37	c.1838	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916809	0.52546	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.55588	0.51;0.51;0.51	5.07	4.15	0.48705	.	0.085098	0.45361	D	0.000373	T	0.18467	0.0443	N	0.13140	0.3	0.58432	D	0.999999	B;B;D;B	0.54047	0.421;0.132;0.964;0.072	B;B;P;B	0.44623	0.126;0.043;0.455;0.027	T	0.05920	-1.0856	10	0.07482	T	0.82	.	10.8941	0.47012	0.0923:0.0:0.9077:0.0	.	579;482;470;613	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Q	613;579;470;482	ENSP00000358310:R613Q;ENSP00000439894:R470Q;ENSP00000440011:R482Q	ENSP00000358310:R613Q	R	+	2	0	ITGA10	144246292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.542000	0.85734	0.609000	0.83330	CGA	ITGA10	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	G	NM_003637		145534935	1	no_errors	ENST00000369304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145534935	G	A	145534935	3	1	167	1	0	0	0	0	1	0	0	0	7893	1058	37	1	1896	1	ITGA10	1	145534935	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	92462421	145534935	103715686	4	31681										
GABPB2	126626	genome.wustl.edu	37	chr1	151076068	151076068	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tgcctcaacagtacagttttCaaattctaccacctcagtgc	5	13	4	0			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:151076068C>G	ENST00000368918.3	+	6	984	c.653C>G	c.(652-654)tCa>tGa	p.S218*	GABPB2_ENST00000368916.1_Intron|GABPB2_ENST00000368917.1_Intron|GABPB2_ENST00000467551.1_Intron	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	218					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GTACAGTTTTCAAATTCTACC	0.453																																																	0													115	106	109					1																	151076068		2203	4300	6503	SO:0001587	stop_gained	126626				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"Ankyrin repeat domain containing"	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.653C>G	1.37:g.151076068C>G	ENSP00000357914:p.Ser218*		B1AVJ8|D3DV14|Q8NAR5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S218*	ENST00000368918.3	37	c.653	CCDS983.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.416734	0.97550	.	.	ENSG00000143458	ENST00000368918;ENST00000446567	.	.	.	5.13	5.13	0.70059	.	0.908093	0.09217	N	0.832463	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-14.3363	13.9417	0.64059	0.0:1.0:0.0:0.0	.	.	.	.	X	218;234	.	ENSP00000357914:S218X	S	+	2	0	GABPB2	149342692	0.994000	0.37717	1.000000	0.80357	0.958000	0.62258	0.743000	0.26231	2.659000	0.90383	0.543000	0.68304	TCA	GABPB2	-	NULL		0.453	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABPB2	HGNC	protein_coding	OTTHUMT00000033700.2	C	NM_144618		151076068	1	no_errors	ENST00000368918	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	151076068	C	G	151076068	4	3	167	1	0	0	0	0	0	1	0	0	6177	838	29	1	671	1	GABPB2	1	151076068	Nonsense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	5541133	151076068	98174553	5	31682										
HRNR	388697	genome.wustl.edu	37	chr1	152186614	152186614	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	gctccatgttggccacagctCgatgactgtcctgatgtaga	11	11	0	3			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:152186614C>G	ENST00000368801.2	-	3	7566	c.7491G>C	c.(7489-7491)tcG>tcC	p.S2497S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2497					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.557																																																	0													1	1	1					1																	152186614		84	271	355	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7491G>C	1.37:g.152186614C>G			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S2497	ENST00000368801.2	37	c.7491	CCDS30859.1	1																																																																																			HRNR	-	NULL		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152186614	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	silent	SNP	0.000	G	G	152186614	C	G	152186614	2	3	167	1	0	0	0	0	0	0	0	1	7379	871	31	1		1	HRNR	1	152186614	Silent	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	1110546	152186614	97064007	6	31683										
POMC	5443	genome.wustl.edu	37	chr2	25384197	25384197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	cgtcggggccatctccctccCggagtcgctggccagtcagc	13	17	2	0			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr2:25384197C>T	ENST00000405623.1	-	3	1012	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	POMC_ENST00000395826.2_Missense_Mutation_p.R186Q|POMC_ENST00000380794.1_Missense_Mutation_p.R186Q|POMC_ENST00000264708.3_Missense_Mutation_p.R186Q|RP11-509E16.1_ENST00000567599.1_lincRNA			P01189	COLI_HUMAN	proopiomelanocortin	186					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	ATCTCCCTCCCGGAGTCGCTG	0.706																																					Colon(110;1515 1566 8452 10082 43216)												0													11	12	12					2																	25384197		2199	4291	6490	SO:0001583	missense	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.557G>A	2.37:g.25384197C>T	ENSP00000384092:p.Arg186Gln		P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.R186Q	ENST00000405623.1	37	c.557	CCDS1717.1	2	.	.	.	.	.	.	.	.	.	.	C	8.742	0.919274	0.17982	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.91	-9.82	0.00484	.	4.595200	0.00797	U	0.001392	T	0.54398	0.1856	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.48747	-0.9008	10	0.45353	T	0.12	-15.6596	2.5058	0.04645	0.2959:0.3845:0.1007:0.2189	.	186	P01189	COLI_HUMAN	Q	186	ENSP00000370171:R186Q;ENSP00000384092:R186Q;ENSP00000264708:R186Q;ENSP00000379170:R186Q;ENSP00000387993:R186Q	ENSP00000264708:R186Q	R	-	2	0	POMC	25237701	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.848000	0.04326	-2.784000	0.00359	-1.401000	0.01141	CGG	POMC	-	NULL		0.706	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	C	NM_001035256		25384197	-1	no_errors	ENST00000264708	ensembl	human	known	70_37	missense	SNP	0.000	T	T	25384197	C	T	25384197	3	4	167	1	0	0	0	0	1	0	0	0	12266	652	23	2	250	2	POMC	2	25384197	Missense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09		25384197	217815176	7	31684										
SP3	6670	genome.wustl.edu	37	chr2	174774850	174774850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	taatcaaagtatcatctcgcGcagcttccacagatgccagc	7	13	3	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr2:174774850G>A	ENST00000310015.6	-	7	2695	c.2165C>T	c.(2164-2166)gCg>gTg	p.A722V	SP3_ENST00000455789.2_Missense_Mutation_p.A669V|SP3_ENST00000418194.2_Missense_Mutation_p.A654V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	722					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ATCATCTCGCGCAGCTTCCAC	0.423																																																	0													119	113	115					2																	174774850		2203	4300	6503	SO:0001583	missense	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2165C>T	2.37:g.174774850G>A	ENSP00000310301:p.Ala722Val		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A722V	ENST00000310015.6	37	c.2165	CCDS2254.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.401|8.401	0.842053|0.842053	0.16963|0.16963	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.05786|.	3.4;3.39;3.4|.	5.14|5.14	4.26|4.26	0.50523|0.50523	.|.	0.450476|.	0.23476|.	N|.	0.047775|.	T|T	0.25005|0.25005	0.0607|0.0607	N|N	0.17082|0.17082	0.46|0.46	0.22199|0.22199	N|N	0.9993|0.9993	B;B;B|.	0.28605|.	0.217;0.009;0.117|.	B;B;B|.	0.21546|.	0.015;0.001;0.035|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.33141|.	T|.	0.24|.	.|.	9.9589|9.9589	0.41684|0.41684	0.0:0.1829:0.6811:0.136|0.0:0.1829:0.6811:0.136	.|.	719;722;669|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	V|C	722;669;654|679	ENSP00000310301:A722V;ENSP00000388903:A669V;ENSP00000406140:A654V|.	ENSP00000310301:A722V|.	A|R	-|-	2|1	0|0	SP3|SP3	174483096|174483096	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	5.973000|5.973000	0.70456|0.70456	1.287000|1.287000	0.44583|0.44583	0.557000|0.557000	0.71058|0.71058	GCG|CGC	SP3	-	NULL		0.423	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	G	NM_003111		174774850	-1	no_errors	ENST00000310015	ensembl	human	known	70_37	missense	SNP	0.995	A	A	174774850	G	A	174774850	3	1	167	1	0	0	0	0	1	0	0	0	14995	1087	38	2	184	2	SP3	2	174774850	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	149390653	174774850	68424523	8	31685										
NBEAL2	23218	genome.wustl.edu	37	chr3	47049909	47049909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	gattgtggtacagagctcagCgtgggaacgtcctggggccc	16	10	1	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr3:47049909C>T	ENST00000450053.3	+	51	8035	c.7856C>T	c.(7855-7857)gCg>gTg	p.A2619V	NBEAL2_ENST00000383740.2_Missense_Mutation_p.A868V|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2435V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2619					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGAGCTCAGCGTGGGAACGT	0.602																																																	0													47	47	47					3																	47049909		2068	4188	6256	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7856C>T	3.37:g.47049909C>T	ENSP00000415034:p.Ala2619Val		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2619V	ENST00000450053.3	37	c.7856	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.30|11.30	1.597770|1.597770	0.28445|0.28445	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000416683	T;T;T|.	0.17370|.	2.28;2.28;2.28|.	5.15|5.15	5.15|5.15	0.70609|0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.460865|.	0.24147|.	N|.	0.041114|.	T|T	0.45357|0.45357	0.1338|0.1338	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999999|0.999999	P;B|.	0.34837|.	0.472;0.024|.	B;B|.	0.28991|.	0.097;0.004|.	T|T	0.34104|0.34104	-0.9842|-0.9842	10|5	0.19590|.	T|.	0.45|.	.|.	13.9938|13.9938	0.64382|0.64382	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2435;2619|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	V|C	2435;868;2619;562|1907	ENSP00000292309:A2435V;ENSP00000373246:A868V;ENSP00000415034:A2619V|.	ENSP00000292309:A2435V|.	A|R	+|+	2|1	0|0	NBEAL2|NBEAL2	47024913|47024913	0.083000|0.083000	0.21467|0.21467	0.771000|0.771000	0.31576|0.31576	0.979000|0.979000	0.70002|0.70002	1.313000|1.313000	0.33585|0.33585	2.669000|2.669000	0.90835|0.90835	0.561000|0.561000	0.74099|0.74099	GCG|CGT	NBEAL2	-	superfamily_WD40_repeat_dom		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	C	XM_291064		47049909	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.147	T	T	47049909	C	T	47049909	3	4	167	1	0	0	0	0	1	0	0	0	10212	768	27	2	8058	2	NBEAL2	3	47049909	Missense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09		47049909	150972521	9	31686										
NDUFAF3	25915	genome.wustl.edu	37	chr3	49059635	49059635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	cgcgaccctcgctgcgctgtCcgcccgttgagcttccctgg	12	18	0	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr3:49059635C>T	ENST00000326925.6	+	1	1192	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S	NDUFAF3_ENST00000451378.2_Intron|DALRD3_ENST00000313778.5_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000326912.4_Intron|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Intron	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	20					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCTGCGCTGTCCGCCCGTTGA	0.706											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													30	29	29					3																	49059635		2203	4298	6501	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.58C>T	3.37:g.49059635C>T	ENSP00000323076:p.Pro20Ser	959		Missense_Mutation	SNP	pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3	p.P20S	ENST00000326925.6	37	c.58	CCDS2784.1	3	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175504	0.21704	.	.	ENSG00000178057	ENST00000326925	D	0.88046	-2.33	3.8	0.9	0.19278	.	0.873760	0.09876	N	0.744308	T	0.73032	0.3535	N	0.19112	0.55	0.09310	N	0.999994	B	0.06786	0.001	B	0.01281	0.0	T	0.54616	-0.8267	10	0.06891	T	0.86	-4.3987	7.3546	0.26711	0.0:0.5818:0.3223:0.0958	.	20	Q9BU61	NDUF3_HUMAN	S	20	ENSP00000323076:P20S	ENSP00000323076:P20S	P	+	1	0	NDUFAF3	49034639	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.053000	0.14184	0.169000	0.19679	0.655000	0.94253	CCG	NDUFAF3	-	NULL		0.706	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF3	HGNC	protein_coding	OTTHUMT00000345683.2	C	NM_199069		49059635	1	no_errors	ENST00000326925	ensembl	human	known	70_37	missense	SNP	0.000	T	T	49059635	C	T	49059635	3	4	167	1	0	0	0	0	1	0	0	0	10300	855	30	1	60	1	NDUFAF3	3	49059635	Missense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	2009726	49059635	148962795	10	31687										
DZIP1L	199221	genome.wustl.edu	37	chr3	137787115	137787115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tggctctgacgagttggtggGggtggctctgccggtgtgga	20	7	2	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr3:137787115G>A	ENST00000327532.2	-	13	2072	c.1710C>T	c.(1708-1710)ccC>ccT	p.P570P	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	570					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GAGTTGGTGGGGGTGGCTCTG	0.662																																																	0													58	67	64					3																	137787115		2203	4300	6503	SO:0001819	synonymous_variant	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1710C>T	3.37:g.137787115G>A			C9JUG5|Q96M38	Silent	SNP	pfscan_Znf_C2H2	p.P570	ENST00000327532.2	37	c.1710	CCDS3096.1	3																																																																																			DZIP1L	-	NULL		0.662	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	G	NM_173543		137787115	-1	no_errors	ENST00000327532	ensembl	human	known	70_37	silent	SNP	0.000	A	A	137787115	G	A	137787115	2	1	167	1	0	0	0	0	0	0	0	1	4874	1219	43	4		4	DZIP1L	3	137787115	Silent	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	88727480	137787115	60235315	11	31688										
RICTOR	253260	genome.wustl.edu	37	chr5	38954960	38954960	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	aggtagacgtgaggacgctgTaatctagtataataaagatg	12	4	1	3			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr5:38954960T>C	ENST00000357387.3	-	27	2643	c.2613A>G	c.(2611-2613)ttA>ttG	p.L871L	RICTOR_ENST00000296782.5_Silent_p.L871L|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GAGGACGCTGTAATCTAGTAT	0.299																																																	0													96	94	95					5																	38954960		2203	4300	6503	SO:0001819	synonymous_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2613A>G	5.37:g.38954960T>C				Silent	SNP	superfamily_ARM-type_fold	p.L871	ENST00000357387.3	37	c.2613	CCDS34148.1	5																																																																																			RICTOR	-	superfamily_ARM-type_fold		0.299	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	T	NM_152756		38954960	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	silent	SNP	1.000	C	C	38954960	T	C	38954960	2	2	167	1	0	0	0	0	0	0	0	1	13388	1635	57	5		5	RICTOR	5	38954960	Silent	SNP	T	TCGA-LP-A4AU-01A-32D-A243-09		38954960	141960300	12	31689										
APC	324	genome.wustl.edu	37	chr5	112179351	112179351	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	cccggtgattgacagtgtttCagaaaaggcaaatccaaaca	9	9	1	3	rs144746572		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr5:112179351C>T	ENST00000457016.1	+	16	8440	c.8060C>T	c.(8059-8061)tCa>tTa	p.S2687L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S2687L|APC_ENST00000257430.4_Missense_Mutation_p.S2687L			P25054	APC_HUMAN	adenomatous polyposis coli	2687	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GACAGTGTTTCAGAAAAGGCA	0.423		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)						C	LEU/SER,LEU/SER,LEU/SER	0,4404		0,0,2202	84	87	86		8060,8060,8006	4.4	1	5	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	145,145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	2687/2844,2687/2844,2669/2826	112179351	1,13003	2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8060C>T	5.37:g.112179351C>T	ENSP00000413133:p.Ser2687Leu		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S2687L	ENST00000457016.1	37	c.8060	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997167	0.19043	0.0	1.16E-4	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.76060	-0.99;-0.99;-0.99	6.17	4.42	0.53409	EB-1 binding (1);	0.296212	0.34002	N	0.004342	T	0.53012	0.1770	N	0.12182	0.205	0.30835	N	0.73627	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.48681	-0.9014	9	.	.	.	-4.9809	9.2598	0.37605	0.0:0.7326:0.0:0.2674	.	2689;2687	Q4LE70;P25054	.;APC_HUMAN	L	2687	ENSP00000413133:S2687L;ENSP00000257430:S2687L;ENSP00000427089:S2687L	.	S	+	2	0	APC	112207250	0.962000	0.33011	0.992000	0.48379	0.998000	0.95712	0.697000	0.25556	0.951000	0.37770	0.655000	0.94253	TCA	APC	-	pfam_EB1-bd		0.423	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	C	NM_000038		112179351	1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	0.974	T	T	112179351	C	T	112179351	3	4	167	1	0	0	0	0	1	0	0	0	763	838	29	1	8118	1	APC	5	112179351	Missense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	73224391	112179351	68735909	13	31690										
PCDH12	51294	genome.wustl.edu	37	chr5	141337076	141337076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	catggatcagagccaaatccCctgtggcaagcacatcaaag	9	12	2	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr5:141337076C>T	ENST00000231484.3	-	1	1551	c.341G>A	c.(340-342)gGg>gAg	p.G114E	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAATCCCCTGTGGCAAG	0.572																																																	0													98	104	102					5																	141337076		2203	4300	6503	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.341G>A	5.37:g.141337076C>T	ENSP00000231484:p.Gly114Glu		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G114E	ENST00000231484.3	37	c.341	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	C	1.101	-0.661188	0.03454	.	.	ENSG00000113555	ENST00000231484	T	0.52754	0.65	5.08	1.14	0.20703	Cadherin (3);	0.306298	0.36303	N	0.002679	T	0.28134	0.0694	N	0.25647	0.755	0.09310	N	1	B	0.18013	0.025	B	0.20184	0.028	T	0.09662	-1.0664	10	0.35671	T	0.21	.	4.5548	0.12131	0.0:0.4582:0.2708:0.271	.	114	Q9NPG4	PCD12_HUMAN	E	114	ENSP00000231484:G114E	ENSP00000231484:G114E	G	-	2	0	PCDH12	141317260	0.000000	0.05858	0.388000	0.26195	0.977000	0.68977	-0.571000	0.05889	0.731000	0.32448	0.563000	0.77884	GGG	PCDH12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.572	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	C	NM_016580		141337076	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	missense	SNP	0.020	T	T	141337076	C	T	141337076	3	4	167	1	0	0	0	0	1	0	0	0	11534	623	22	4	3229	4	PCDH12	5	141337076	Missense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	29157725	141337076	39578184	14	31691										
CYP21A2	1589	genome.wustl.edu	37	chr6	32006938	32006938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tccctgctctggaaagcccaCaagaagctcacccgctcagc	8	17	3	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr6:32006938C>T	ENST00000418967.2	+	3	518	c.360C>T	c.(358-360)caC>caT	p.H120H	C4B-AS1_ENST00000415626.1_RNA|CYP21A2_ENST00000435122.2_Silent_p.H90H	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	119					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	GGAAAGCCCACAAGAAGCTCA	0.617																																					Melanoma(174;1669 1998 3915 34700 46447)												0													38	34	36					6																	32006938		2202	4300	6502	SO:0001819	synonymous_variant	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.360C>T	6.37:g.32006938C>T			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.H120	ENST00000418967.2	37	c.360	CCDS4735.1	6																																																																																			CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.617	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	C	NM_000500		32006938	1	no_errors	ENST00000418967	ensembl	human	known	70_37	silent	SNP	0.986	T	T	32006938	C	T	32006938	2	4	167	1	0	0	0	0	0	0	0	1	4158	477	17	4		4	CYP21A2	6	32006938	Silent	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09		32006938	139108129	15	31692										
TAPBP	9278	genome.wustl.edu	37	chr6	33281175	33281175	+	IGR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	gcagaggcggggagaggcacGaagcggctcatctcgcagtg	18	10	2	2			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr6:33281175G>C	ENST00000431845.2	-	0	2651				TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000475304.1_Missense_Mutation_p.F96L|TAPBP_ENST00000426633.2_Missense_Mutation_p.F96L|TAPBP_ENST00000434618.2_Missense_Mutation_p.F96L|TAPBP_ENST00000456592.2_Missense_Mutation_p.F96L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGAGAGGCACGAAGCGGCTCA	0.687																																																	0													12	16	14					6																	33281175		2194	4294	6488	SO:0001628	intergenic_variant	6892			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281175G>C			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.F96L	ENST00000431845.2	37	c.288	CCDS4775.1	6	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576486	0.28092	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000458089;ENST00000437741;ENST00000467025	T;T;T;T	0.40225	1.3;1.04;1.23;1.3	4.55	0.51	0.16983	.	0.461255	0.22692	N	0.056809	T	0.13030	0.0316	L	0.46157	1.445	0.09310	N	1	P;P;P;P;P	0.48162	0.839;0.727;0.906;0.906;0.751	B;B;B;B;B	0.37304	0.233;0.246;0.228;0.228;0.08	T	0.10382	-1.0632	10	0.46703	T	0.11	-7.5328	6.2026	0.20585	0.4568:0.0:0.5432:0.0	.	96;96;96;96;96	G5E9H8;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;TPSN_HUMAN	L	96;96;96;96;96;96;96;39	ENSP00000395701:F96L;ENSP00000417949:F96L;ENSP00000404833:F96L;ENSP00000387803:F96L	ENSP00000404833:F96L	F	-	3	2	TAPBP	33389153	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.076000	0.14712	0.188000	0.20168	-0.262000	0.10625	TTC	TAPBP	-	NULL		0.687	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000076183.2	G			33281175	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	missense	SNP	0.000	C	C	33281175	G	C	33281175	1	2	167	0	1	0	0	0	0	0	0	0	15582	1049	37	1		1	TAPBP	6	33281175	IGR	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	1274237	33281175	137833892	16	31693										
NT5E	4907	genome.wustl.edu	37	chr6	86199239	86199239	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	acaacctgagacacacggatGaaatgttctggaaccacgta	9	10	1	2			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr6:86199239G>A	ENST00000257770.3	+	6	1181	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	NT5E_ENST00000369651.3_Missense_Mutation_p.E378K	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	378					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	ACACACGGATGAAATGTTCTG	0.473																																					Melanoma(140;797 1765 2035 2752 18208)												0													140	118	126					6																	86199239		2203	4300	6503	SO:0001583	missense	4907			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1132G>A	6.37:g.86199239G>A	ENSP00000257770:p.Glu378Lys		B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase	p.E378K	ENST00000257770.3	37	c.1132	CCDS5002.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.692340|1.692340	0.30052|0.30052	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369651|ENST00000416334;ENST00000437581	T;T|.	0.55234|.	0.56;0.53|.	5.21|5.21	5.21|5.21	0.72293|0.72293	5&apos (3);-Nucleotidase, C-terminal (3);|.	0.322765|.	0.36740|.	N|.	0.002426|.	T|T	0.42653|0.42653	0.1212|0.1212	L|L	0.35249|0.35249	1.045|1.045	0.41102|0.41102	D|D	0.985674|0.985674	B;B|.	0.19445|.	0.036;0.02|.	B;B|.	0.26310|.	0.068;0.068|.	T|T	0.35325|0.35325	-0.9793|-0.9793	10|5	0.30078|.	T|.	0.28|.	-18.4886|-18.4886	12.6015|12.6015	0.56499|0.56499	0.0867:0.0:0.9133:0.0|0.0867:0.0:0.9133:0.0	.|.	378;378|.	B3KQI8;P21589|.	.;5NTD_HUMAN|.	K|I	154;378;378|142;73	ENSP00000257770:E378K;ENSP00000358665:E378K|.	ENSP00000257770:E378K|.	E|M	+|+	1|3	0|0	NT5E|NT5E	86255958|86255958	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.559000|0.559000	0.35586|0.35586	3.233000|3.233000	0.51311|0.51311	2.441000|2.441000	0.82636|0.82636	0.462000|0.462000	0.41574|0.41574	GAA|ATG	NT5E	-	pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C		0.473	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5E	HGNC	protein_coding	OTTHUMT00000041388.1	G			86199239	1	no_errors	ENST00000257770	ensembl	human	known	70_37	missense	SNP	0.991	A	A	86199239	G	A	86199239	3	1	167	1	0	0	0	0	1	0	0	0	10717	1291	45	1	1154	1	NT5E	6	86199239	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	52918064	86199239	84915828	17	31694										
TTLL2	83887	genome.wustl.edu	37	chr6	167754940	167754940	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tacggagcaggcacacgcctCacaagacactcatgccctac	8	16	2	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr6:167754940C>T	ENST00000239587.5	+	3	1640	c.1552C>T	c.(1552-1554)Cac>Tac	p.H518Y		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	518					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCACACGCCTCACAAGACACT	0.572																																																	0													145	119	128					6																	167754940		2203	4300	6503	SO:0001583	missense	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1552C>T	6.37:g.167754940C>T	ENSP00000239587:p.His518Tyr		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.H518Y	ENST00000239587.5	37	c.1552	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.771142	0.00645	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02301	4.35	3.67	0.648	0.17801	.	1.796010	0.02774	N	0.120051	T	0.00440	0.0014	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34650	-0.9820	10	0.02654	T	1	.	5.3156	0.15854	0.0:0.4923:0.3226:0.1852	.	518	Q9BWV7	TTLL2_HUMAN	Y	518;445	ENSP00000239587:H518Y	ENSP00000239587:H518Y	H	+	1	0	TTLL2	167674930	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.596000	0.05720	0.218000	0.20820	-0.479000	0.04858	CAC	TTLL2	-	NULL		0.572	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	C	NM_031949		167754940	1	no_errors	ENST00000239587	ensembl	human	known	70_37	missense	SNP	0.000	T	T	167754940	C	T	167754940	3	4	167	1	0	0	0	0	1	0	0	0	16758	826	29	1	1562	1	TTLL2	6	167754940	Missense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	81555701	167754940	3360127	18	31695										
DLC1	10395	genome.wustl.edu	37	chr8	12943867	12943867	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	cagggttcaatcaaatacctGgacaagagcacattaaccct	7	11	2	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr8:12943867G>T	ENST00000276297.4	-	17	4807	c.4398C>A	c.(4396-4398)tcC>tcA	p.S1466S	DLC1_ENST00000520226.1_Silent_p.S955S|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.S1029S|DLC1_ENST00000512044.2_Silent_p.S1063S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1466	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCAAATACCTGGACAAGAGCA	0.458																																																	0													135	128	130					8																	12943867		2203	4300	6503	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4398C>A	8.37:g.12943867G>T			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.S1466	ENST00000276297.4	37	c.4398	CCDS5989.1	8																																																																																			DLC1	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.458	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12943867	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	0.997	T	T	12943867	G	T	12943867	2	4	167	1	0	0	0	0	0	0	0	1	4560	1335	47	4		4	DLC1	8	12943867	Silent	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09		12943867	133420155	19	31696										
ESRP1	54845	genome.wustl.edu	37	chr8	95677406	95677406	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	acaaagcaacaggtgaagatTtccttaaaattgctggtggt	10	6	0	2			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr8:95677406T>G	ENST00000433389.2	+	9	1103	c.913T>G	c.(913-915)Ttc>Gtc	p.F305V	ESRP1_ENST00000423620.2_Missense_Mutation_p.F305V|ESRP1_ENST00000454170.2_Missense_Mutation_p.F305V|ESRP1_ENST00000358397.5_Missense_Mutation_p.F305V	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	305					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGGTGAAGATTTCCTTAAAAT	0.358																																																	0													88	85	86					8																	95677406		1845	4101	5946	SO:0001583	missense	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.913T>G	8.37:g.95677406T>G	ENSP00000405738:p.Phe305Val		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.F305V	ENST00000433389.2	37	c.913	CCDS47897.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.717053|4.717053	0.89205|0.89205	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000522756;ENST00000517610	.|T;T;T;T;T;T	.|0.28454	.|1.61;3.43;3.43;1.61;1.61;3.43	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.53546|0.53546	0.1803|0.1803	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.985;0.999;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.999;0.943;0.987;0.998;0.999	T|T	0.57130|0.57130	-0.7864|-0.7864	6|10	.|0.87932	.|D	.|0	-8.3861|-8.3861	15.3306|15.3306	0.74208|0.74208	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|305;305;305;305;305;305	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	C|V	170|305;305;305;305;88;164	.|ENSP00000407349:F305V;ENSP00000405738:F305V;ENSP00000351168:F305V;ENSP00000402766:F305V;ENSP00000428490:F88V;ENSP00000429125:F164V	.|ENSP00000351168:F305V	F|F	+|+	2|1	0|0	ESRP1|ESRP1	95746582|95746582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	8.040000|8.040000	0.89188|0.89188	2.022000|2.022000	0.59522|0.59522	0.460000|0.460000	0.39030|0.39030	TTT|TTC	ESRP1	-	NULL		0.358	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	T	NM_017697		95677406	1	no_errors	ENST00000433389	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95677406	T	G	95677406	3	3	167	1	0	0	0	0	1	0	0	0	5270	1841	64	5	947	5	ESRP1	8	95677406	Missense_Mutation	SNP	T	TCGA-LP-A4AU-01A-32D-A243-09	82733539	95677406	50686616	20	31697										
SAMD8	142891	genome.wustl.edu	37	chr10	76910349	76910349	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	aagcatgtagctgtgtggctGaaggatgaaggcttttttga	14	4	0	3			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr10:76910349G>A	ENST00000542569.1	+	2	166	c.63G>A	c.(61-63)ctG>ctA	p.L21L	SAMD8_ENST00000372690.3_Silent_p.L84L|SAMD8_ENST00000372687.4_Silent_p.L21L	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	21	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.L21L(1)|p.L84L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTGTGTGGCTGAAGGATGAAG	0.453																																																	2	Substitution - coding silent(2)	lung(2)											134	124	127					10																	76910349		2203	4300	6503	SO:0001819	synonymous_variant	142891			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"Sterile alpha motif (SAM) domain containing"	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.63G>A	10.37:g.76910349G>A			Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L84	ENST00000542569.1	37	c.252	CCDS53543.1	10																																																																																			SAMD8	-	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.453	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD8	HGNC	protein_coding		G	NM_144660		76910349	1	no_errors	ENST00000372690	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76910349	G	A	76910349	2	1	167	1	0	0	0	0	0	0	0	1	13855	1277	45	1		1	SAMD8	10	76910349	Silent	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09		76910349	58624398	21	31698										
MUC2	4583	genome.wustl.edu	37	chr11	1079662	1079662	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	gcctctgcggttccagccaaGacctgccccgggaacctggt	12	16	1	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr11:1079662G>A	ENST00000441003.2	+	7	906	c.879G>A	c.(877-879)aaG>aaA	p.K293K	MUC2_ENST00000359061.5_Silent_p.K293K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	293					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TTCCAGCCAAGACCTGCCCCG	0.677																																																	0													19	25	23					11																	1079662		2116	4221	6337	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.879G>A	11.37:g.1079662G>A			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.K293	ENST00000441003.2	37	c.879		11																																																																																			MUC2	-	superfamily_TIL_dom		0.677	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1079662	1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.810	A	A	1079662	G	A	1079662	2	1	167	1	0	0	0	0	0	0	0	1	9998	933	33	1		1	MUC2	11	1079662	Silent	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09		1079662	133926854	22	31699										
OR4S1	256148	genome.wustl.edu	37	chr11	48327879	48327879	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	ttcttcctctttcatgtgctCactgtcctggggaaccttct	7	13	5	0			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr11:48327879C>G	ENST00000319988.1	+	1	105	c.105C>G	c.(103-105)ctC>ctG	p.L35L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTCATGTGCTCACTGTCCTGG	0.443																																																	0													283	235	251					11																	48327879		2201	4288	6489	SO:0001819	synonymous_variant	256148			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.105C>G	11.37:g.48327879C>G			Q6IFB4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L35	ENST00000319988.1	37	c.105	CCDS31488.1	11																																																																																			OR4S1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.443	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1	C	NM_001004725		48327879	1	no_errors	ENST00000319988	ensembl	human	known	70_37	silent	SNP	0.102	G	G	48327879	C	G	48327879	2	3	167	1	0	0	0	0	0	0	0	1	11106	813	29	1		1	OR4S1	11	48327879	Silent	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	47248217	48327879	86678637	23	31700										
OR10AG1	282770	genome.wustl.edu	37	chr11	55735343	55735343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	acaatcaacagaaatggcacCgtgataaacaccaccgctac	6	13	1	2			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr11:55735343C>T	ENST00000312345.2	-	1	647	c.597G>A	c.(595-597)acG>acA	p.T199T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAATGGCACCGTGATAAACA	0.408																																																	1	Substitution - coding silent(1)	lung(1)											80	80	80					11																	55735343		2201	4296	6497	SO:0001819	synonymous_variant	282770			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.597G>A	11.37:g.55735343C>T			B2RNH4|Q6IEU3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T199	ENST00000312345.2	37	c.597	CCDS31514.1	11																																																																																			OR10AG1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.408	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	C	NM_001005491		55735343	-1	no_errors	ENST00000312345	ensembl	human	known	70_37	silent	SNP	0.000	T	T	55735343	C	T	55735343	2	4	167	1	0	0	0	0	0	0	0	1	10921	639	23	2		2	OR10AG1	11	55735343	Silent	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	7407464	55735343	79271173	24	31701										
NRXN2	9379	genome.wustl.edu	37	chr11	64421184	64421184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	ttactgggtgcgcagccgacGcgcaggcagtctgggggggc	19	11	1	0	rs371387618		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr11:64421184G>A	ENST00000377551.1	-	11	2611	c.2400C>T	c.(2398-2400)cgC>cgT	p.R800R	NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Silent_p.R793R|NRXN2_ENST00000265459.6_Silent_p.R800R|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	800	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCAGCCGACGCGCAGGCAGT	0.577																																																	0								G	,	0,4356		0,0,2178	9	12	11		2400,	2.8	1	11		11	2,8530		0,2,4264	no	coding-synonymous,intron	NRXN2	NM_015080.3,NM_138732.2	,	0,2,6442	AA,AG,GG		0.0234,0.0,0.0155	,	800/1713,	64421184	2,12886	2178	4266	6444	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2400C>T	11.37:g.64421184G>A			A7E2C1|Q9Y2D6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R800	ENST00000377551.1	37	c.2400	CCDS8077.1	11																																																																																			NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	G	NM_015080		64421184	-1	no_errors	ENST00000265459	ensembl	human	known	70_37	silent	SNP	1.000	A	A	64421184	G	A	64421184	2	1	167	1	0	0	0	0	0	0	0	1	10690	1074	38	2		2	NRXN2	11	64421184	Silent	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	8685841	64421184	70585332	25	31702										
HERC2	8924	genome.wustl.edu	37	chr15	28463704	28463704	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	taaagtcttggtggcttcgcTctgcatgatctcagcatgaa	10	9	3	2			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr15:28463704T>G	ENST00000261609.7	-	38	6067	c.5959A>C	c.(5959-5961)Agc>Cgc	p.S1987R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGGCTTCGCTCTGCATGATC	0.488																																																	0													132	141	138					15																	28463704		1399	2382	3781	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5959A>C	15.37:g.28463704T>G	ENSP00000261609:p.Ser1987Arg			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S1987R	ENST00000261609.7	37	c.5959	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	7.084	0.570814	0.13623	.	.	ENSG00000128731	ENST00000261609	T	0.37411	1.2	4.4	2.0	0.26442	.	0.595355	0.17661	N	0.166304	T	0.19366	0.0465	N	0.25647	0.755	0.28577	N	0.910348	B	0.19583	0.037	B	0.18871	0.023	T	0.21621	-1.0240	10	0.14656	T	0.56	.	4.4616	0.11669	0.1434:0.1595:0.0:0.6971	.	1987	O95714	HERC2_HUMAN	R	1987	ENSP00000261609:S1987R	ENSP00000261609:S1987R	S	-	1	0	HERC2	26137299	0.993000	0.37304	0.724000	0.30704	0.745000	0.42441	1.834000	0.39171	0.296000	0.22592	0.528000	0.53228	AGC	HERC2	-	NULL		0.488	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667		28463704	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	0.311	G	G	28463704	T	G	28463704	3	3	167	1	0	0	0	0	1	0	0	0	7078	1551	54	5	8769	5	HERC2	15	28463704	Missense_Mutation	SNP	T	TCGA-LP-A4AU-01A-32D-A243-09		28463704	74067688	26	31703										
RLTPR	146206	genome.wustl.edu	37	chr16	67680869	67680869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tgggagacttcagccacctcGgcagtcggtgtgtggcctgc	15	12	1	1	rs201634531		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr16:67680869G>A	ENST00000334583.6	+	8	932	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	RLTPR_ENST00000545661.1_Missense_Mutation_p.G202S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	202					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGCCACCTCGGCAGTCGGTG	0.627																																																	0								G	SER/GLY	2,3956		0,2,1977	22	24	23		604	-0.6	0.9	16		23	0,8336		0,0,4168	yes	missense	RLTPR	NM_001013838.1	56	0,2,6145	AA,AG,GG		0.0,0.0505,0.0163	benign	202/1436	67680869	2,12292	1979	4168	6147	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.604G>A	16.37:g.67680869G>A	ENSP00000334958:p.Gly202Ser		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G202S	ENST00000334583.6	37	c.604	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789774	0.31685	5.05E-4	0.0	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.50548	0.74;0.74	5.06	-0.642	0.11486	.	0.363988	0.29791	N	0.011197	T	0.18173	0.0436	N	0.08118	0	0.23636	N	0.997234	B;B	0.26547	0.0;0.152	B;B	0.16722	0.001;0.016	T	0.21381	-1.0247	10	0.11485	T	0.65	-10.1894	5.7809	0.18306	0.3214:0.2027:0.4759:0.0	.	202;202	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	S	202	ENSP00000334958:G202S;ENSP00000441481:G202S	ENSP00000334958:G202S	G	+	1	0	RLTPR	66238370	0.233000	0.23772	0.936000	0.37596	0.426000	0.31534	0.994000	0.29693	0.252000	0.21531	-0.244000	0.11960	GGC	RLTPR	-	NULL		0.627	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67680869	1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	0.918	A	A	67680869	G	A	67680869	3	1	167	1	0	0	0	0	1	0	0	0	13424	1116	39	2	634	2	RLTPR	16	67680869	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09		67680869	22673884	27	31704										
KAT2A	2648	genome.wustl.edu	37	chr17	40266039	40266039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	aatggggaagcggatgacctCgtagtagtcaggggcctccg	16	9	1	1	rs373255391		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr17:40266039C>T	ENST00000225916.5	-	17	2352	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	767	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGGATGACCTCGTAGTAGTCA	0.637																																																	0								C	LYS/GLU	0,4340		0,0,2170	69	71	70		2299	4.8	1	17		70	1,8467		0,1,4233	no	missense	KAT2A	NM_021078.2	56	0,1,6403	TT,TC,CC		0.0118,0.0,0.0078	benign	767/838	40266039	1,12807	2170	4234	6404	SO:0001583	missense	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2299G>A	17.37:g.40266039C>T	ENSP00000225916:p.Glu767Lys		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.E767K	ENST00000225916.5	37	c.2299	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451763	0.84209	0.0	1.18E-4	ENSG00000108773	ENST00000225916	T	0.28895	1.59	4.79	4.79	0.61399	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.35341	1.055	0.80722	D	1	B	0.31989	0.35	B	0.31812	0.136	T	0.14811	-1.0459	10	0.72032	D	0.01	-16.8948	17.8406	0.88714	0.0:1.0:0.0:0.0	.	767	Q92830	KAT2A_HUMAN	K	767	ENSP00000225916:E767K	ENSP00000225916:E767K	E	-	1	0	KAT2A	37519565	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.902000	0.69869	2.212000	0.71576	0.491000	0.48974	GAG	KAT2A	-	pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain		0.637	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1	C	NM_021078		40266039	-1	no_errors	ENST00000225916	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40266039	C	T	40266039	3	4	167	1	0	0	0	0	1	0	0	0	8001	893	31	1	222	1	KAT2A	17	40266039	Missense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09		40266039	40929171	28	31705										
ABCA9	10350	genome.wustl.edu	37	chr17	67045564	67045564	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	aagacatttgaggagtgtcaTgaacttgatgtaaattggag	12	3	1	4			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr17:67045564T>A	ENST00000340001.4	-	3	375	c.164A>T	c.(163-165)cAt>cTt	p.H55L	ABCA9_ENST00000370732.2_Missense_Mutation_p.H55L|ABCA9_ENST00000453985.2_Missense_Mutation_p.H55L|ABCA9_ENST00000495634.1_Missense_Mutation_p.H55L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	55					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGGAGTGTCATGAACTTGATG	0.338																																																	0													128	129	129					17																	67045564		2203	4300	6503	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.164A>T	17.37:g.67045564T>A	ENSP00000342216:p.His55Leu		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H55L	ENST00000340001.4	37	c.164	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	T	0.212	-1.035446	0.02029	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86769	-2.06;-2.17	4.78	-0.33	0.12683	.	0.796800	0.10628	N	0.652517	T	0.74794	0.3763	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.16289	0.015;0.004	T	0.55270	-0.8167	10	0.11794	T	0.64	.	2.6076	0.04882	0.3366:0.192:0.0:0.4714	.	55;55	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	L	55;38;55;50	ENSP00000342216:H55L;ENSP00000359767:H55L	ENSP00000342216:H55L	H	-	2	0	ABCA9	64557159	0.139000	0.22563	0.064000	0.19789	0.001000	0.01503	0.313000	0.19415	0.081000	0.16988	-0.256000	0.11100	CAT	ABCA9	-	NULL		0.338	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	T	NM_172386		67045564	-1	no_errors	ENST00000340001	ensembl	human	known	70_37	missense	SNP	0.003	A	A	67045564	T	A	67045564	3	1	167	1	0	0	0	0	1	0	0	0	39	1464	51	5	4858	5	ABCA9	17	67045564	Missense_Mutation	SNP	T	TCGA-LP-A4AU-01A-32D-A243-09	26779525	67045564	14149646	29	31706										
CASKIN2	57513	genome.wustl.edu	37	chr17	73497691	73497691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	ccgtggaggaggcactgggcGggggccgagccggggcgcta	22	11	0	0			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr17:73497691G>A	ENST00000321617.3	-	19	3962	c.3376C>T	c.(3376-3378)Cgc>Tgc	p.R1126C	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R1044C	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1126	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCACTGGGCGGGGGCCGAGC	0.667																																																	0													22	32	29					17																	73497691		2155	4224	6379	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3376C>T	17.37:g.73497691G>A	ENSP00000325355:p.Arg1126Cys		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.R1126C	ENST00000321617.3	37	c.3376	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516479	0.64634	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70045	-0.45;-0.27	5.61	5.61	0.85477	.	0.000000	0.47093	D	0.000253	T	0.55593	0.1930	N	0.24115	0.695	0.80722	D	1	B	0.19706	0.038	B	0.10450	0.005	T	0.53549	-0.8423	10	0.62326	D	0.03	.	16.7958	0.85601	0.0:0.0:1.0:0.0	.	1126	Q8WXE0	CSKI2_HUMAN	C	1126;1044	ENSP00000325355:R1126C;ENSP00000406963:R1044C	ENSP00000325355:R1126C	R	-	1	0	CASKIN2	71009286	0.976000	0.34144	0.999000	0.59377	0.465000	0.32709	2.881000	0.48538	2.641000	0.89580	0.591000	0.81541	CGC	CASKIN2	-	NULL		0.667	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	G	NM_020753		73497691	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.999	A	A	73497691	G	A	73497691	3	1	167	1	0	0	0	0	1	0	0	0	2672	1116	39	2	240	2	CASKIN2	17	73497691	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	6452127	73497691	7697519	30	31707										
ZNF521	25925	genome.wustl.edu	37	chr18	22805422	22805422	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tgtttttctaacaaaatgatCgcatggaaggctttgctaca	8	7	1	1	rs199692978		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr18:22805422C>T	ENST00000361524.3	-	4	2608	c.2460G>A	c.(2458-2460)gcG>gcA	p.A820A	ZNF521_ENST00000584787.1_Silent_p.A600A|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.A820A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	820					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.A820A(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACAAAATGATCGCATGGAAGG	0.468			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - coding silent(1)	lung(1)						C		1,4405	2.1+/-5.4	0,1,2202	162	154	157		2460	-2.6	0.7	18		157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF521	NM_015461.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		820/1312	22805422	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2460G>A	18.37:g.22805422C>T			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A820	ENST00000361524.3	37	c.2460	CCDS32806.1	18																																																																																			ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	C	NM_015461		22805422	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	silent	SNP	0.619	T	T	22805422	C	T	22805422	2	4	167	1	0	0	0	0	0	0	0	1	17995	871	31	1		1	ZNF521	18	22805422	Silent	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09		22805422	55271826	31	31708										
CHERP	10523	genome.wustl.edu	37	chr19	16636365	16636365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	ctggttgttccagggcgcgtCgcgctggccgttccagccgg	16	14	0	0			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr19:16636365C>T	ENST00000198939.6	-	10	1498	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.D477N|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CAGGGCGCGTCGCGCTGGCCG	0.741																																																	0													4	6	5					19																	16636365		1666	3526	5192	SO:0001583	missense	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1462G>A	19.37:g.16636365C>T	ENSP00000198939:p.Asp488Asn			Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.D477N	ENST00000198939.6	37	c.1429		19	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502437	0.44455	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.27104	1.7;1.69	4.99	4.99	0.66335	.	.	.	.	.	T	0.19886	0.0478	L	0.29908	0.895	0.40434	D	0.979974	B	0.33857	0.429	B	0.24269	0.052	T	0.06807	-1.0806	9	0.56958	D	0.05	-14.9372	17.2681	0.87093	0.0:1.0:0.0:0.0	.	477	Q8IWX8	CHERP_HUMAN	N	477;488	ENSP00000439856:D477N;ENSP00000198939:D488N	ENSP00000198939:D488N	D	-	1	0	CHERP	16497365	1.000000	0.71417	0.092000	0.20876	0.343000	0.28985	6.279000	0.72620	2.314000	0.78098	0.549000	0.68633	GAC	CHERP	-	NULL		0.741	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000403372.1	C	NM_006387		16636365	-1	no_errors	ENST00000546361	ensembl	human	known	70_37	missense	SNP	0.854	T	T	16636365	C	T	16636365	3	4	167	1	0	0	0	0	1	0	0	0	3341	884	31	1	1353	1	CHERP	19	16636365	Missense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09		16636365	42492618	32	31709										
ZNF536	9745	genome.wustl.edu	37	chr19	31039377	31039377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	ccccttccatgaaagtccacGgagtggatggtggtgaggag	15	9	0	2			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr19:31039377G>A	ENST00000355537.3	+	4	2998	c.2851G>A	c.(2851-2853)Gga>Aga	p.G951R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	951					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAAGTCCACGGAGTGGATGG	0.532																																																	0													118	128	124					19																	31039377		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2851G>A	19.37:g.31039377G>A	ENSP00000347730:p.Gly951Arg		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G951R	ENST00000355537.3	37	c.2851	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	0.226	-1.025085	0.02061	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	5.46	2.94	0.34122	.	0.596428	0.18534	N	0.138408	T	0.04770	0.0129	N	0.14661	0.345	0.19300	N	0.999975	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.44937	-0.9295	10	0.08381	T	0.77	-6.5312	5.0915	0.14710	0.1953:0.0:0.6474:0.1574	.	951;951	A7E228;O15090	.;ZN536_HUMAN	R	951	ENSP00000347730:G951R	ENSP00000347730:G951R	G	+	1	0	ZNF536	35731217	1.000000	0.71417	0.004000	0.12327	0.874000	0.50279	4.239000	0.58694	0.430000	0.26230	0.491000	0.48974	GGA	ZNF536	-	NULL		0.532	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		31039377	1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	0.250	A	A	31039377	G	A	31039377	3	1	167	1	0	0	0	0	1	0	0	0	18004	1117	39	2	2861	2	ZNF536	19	31039377	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	14403012	31039377	28089606	33	31710										
FAM98C	147965	genome.wustl.edu	37	chr19	38897559	38897559	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	ccccactccaggcccaaggaGaggccatgagggcagtgctg	14	14	0	2			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr19:38897559G>A	ENST00000252530.5	+	7	779	c.760G>A	c.(760-762)Gag>Aag	p.E254K	FAM98C_ENST00000588262.1_Missense_Mutation_p.R120K|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	254										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCCAAGGAGAGGCCATGAG	0.567																																																	0													74	78	77					19																	38897559		2009	4173	6182	SO:0001583	missense	147965				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.760G>A	19.37:g.38897559G>A	ENSP00000252530:p.Glu254Lys		A6NMW3|Q66K45	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.E254K	ENST00000252530.5	37	c.760	CCDS42562.1	19	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395969	0.42512	.	.	ENSG00000130244	ENST00000252530	T	0.45276	0.9	4.9	-2.47	0.06442	.	1.093510	0.07173	N	0.852751	T	0.38904	0.1058	M	0.63428	1.95	0.21064	N	0.999799	B	0.14012	0.009	B	0.17433	0.018	T	0.43766	-0.9371	10	0.41790	T	0.15	-23.5239	9.5662	0.39400	0.4885:0.0:0.5115:0.0	.	254	Q17RN3	FA98C_HUMAN	K	254	ENSP00000252530:E254K	ENSP00000252530:E254K	E	+	1	0	FAM98C	43589399	0.182000	0.23173	0.741000	0.31004	0.948000	0.59901	0.333000	0.19768	-0.323000	0.08602	-0.142000	0.14014	GAG	FAM98C	-	pfam_Uncharacterised_FAM98		0.567	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	G	NM_174905		38897559	1	no_errors	ENST00000252530	ensembl	human	known	70_37	missense	SNP	0.208	A	A	38897559	G	A	38897559	3	1	167	1	0	0	0	0	1	0	0	0	5676	943	33	1	786	1	FAM98C	19	38897559	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	7858182	38897559	20231424	34	31711										
C20orf186	149954	genome.wustl.edu	37	chr20	31695549	31695549	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tgactgttttttattttacaGctgtgctgggttctggcgtc	11	7	1	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr20:31695549G>A	ENST00000375483.3	+	15	1744		c.e15-1		BPIFB4_ENST00000494121.1_Splice_Site	NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4							cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTATTTTACAGCTGTGCTGGG	0.458																																																	0													128	108	115					20																	31695549		2203	4300	6503	SO:0001630	splice_region_variant	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1745-1G>A	20.37:g.31695549G>A			Q5TDX6	Splice_Site	SNP	-	e15-1	ENST00000375483.3	37	c.1745-1	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	.	12.18	1.859516	0.32884	.	.	ENSG00000186191	ENST00000375483	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7318	0.69388	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFB4	31159210	1.000000	0.71417	0.988000	0.46212	0.229000	0.25112	5.030000	0.64128	2.860000	0.98153	0.655000	0.94253	.	BPIFB4	-	-		0.458	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	G	NM_182519	Intron	31695549	1	no_errors	ENST00000375483	ensembl	human	known	70_37	splice_site	SNP	0.999	A	A	31695549	G	A	31695549	5	1	167	1	0	0	0	0	0	0	1	0	2103	985	34	4	1802	4	C20orf186	20	31695549	Splice_Site	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09		31695549	31329971	35	31712										
ATP9A	10079	genome.wustl.edu	37	chr20	50287703	50287703	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	ctgcccagctgctcaggaatCgtgctggagcgaaccacggt	13	13	1	0	rs146526523		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr20:50287703C>T	ENST00000338821.5	-	12	1395	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	ATP9A_ENST00000311637.5_Silent_p.T241T|ATP9A_ENST00000402822.1_Silent_p.T256T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	377					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTCAGGAATCGTGCTGGAGC	0.552																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	89	76	81		1131	-10.4	0.1	20	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP9A	NM_006045.1		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		377/1048	50287703	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1131G>A	20.37:g.50287703C>T			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T377	ENST00000338821.5	37	c.1131	CCDS33489.1	20																																																																																			ATP9A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.552	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	C	NM_006045		50287703	-1	no_errors	ENST00000338821	ensembl	human	known	70_37	silent	SNP	0.104	T	T	50287703	C	T	50287703	2	4	167	1	0	0	0	0	0	0	0	1	1199	871	31	1		1	ATP9A	20	50287703	Silent	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	18592154	50287703	12737817	36	31713										
OFD1	8481	genome.wustl.edu	37	chrX	13775835	13775835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	agaaagaactacggaaagccGaaaaggctatagtggttgag	13	5	0	3			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:13775835G>A	ENST00000340096.6	+	14	1795	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Missense_Mutation_p.E350K|OFD1_ENST00000380550.3_Missense_Mutation_p.E450K	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	490					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACGGAAAGCCGAAAAGGCTAT	0.438																																																	0													83	75	78					X																	13775835		2203	4300	6503	SO:0001583	missense	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1468G>A	X.37:g.13775835G>A	ENSP00000344314:p.Glu490Lys		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.E490K	ENST00000340096.6	37	c.1468	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	.	16.13	3.035800	0.54896	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D	0.96856	-2.21;-4.15;-1.87	5.16	5.16	0.70880	.	0.167784	0.52532	D	0.000072	D	0.97374	0.9141	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.984;0.978;0.999;0.991;0.984	D	0.96781	0.9575	10	0.33141	T	0.24	-20.7613	15.2475	0.73517	0.0:0.0:1.0:0.0	.	490;450;158;350;490	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	K	450;490;350;313	ENSP00000369923:E450K;ENSP00000344314:E490K;ENSP00000369941:E350K	ENSP00000344314:E490K	E	+	1	0	OFD1	13685756	1.000000	0.71417	0.100000	0.21137	0.006000	0.05464	3.479000	0.53165	2.279000	0.76181	0.544000	0.68410	GAA	OFD1	-	superfamily_Lipoprotein_6		0.438	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	G	NM_003611		13775835	1	no_errors	ENST00000340096	ensembl	human	known	70_37	missense	SNP	0.801	A	A	13775835	G	A	13775835	3	1	167	1	0	0	0	0	1	0	0	0	10862	1059	37	1	1522	1	OFD1	23	13775835	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09		13775835	141494725	37	31714										
CNKSR2	22866	genome.wustl.edu	37	chrX	21581385	21581385	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tacttcggtatatgagcaatGaaaagattgctcaagaagaa	9	5	1	5			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:21581385G>C	ENST00000379510.3	+	13	1459	c.1423G>C	c.(1423-1425)Gaa>Caa	p.E475Q	CNKSR2_ENST00000543067.1_Missense_Mutation_p.E426Q|AL928874.1_ENST00000579338.1_RNA|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E475Q|CNKSR2_ENST00000425654.2_Missense_Mutation_p.E445Q|CNKSR2_ENST00000485012.1_3'UTR	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	475	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATGAGCAATGAAAAGATTGC	0.328																																																	0													66	63	64					X																	21581385		2202	4298	6500	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1423G>C	X.37:g.21581385G>C	ENSP00000368824:p.Glu475Gln		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.E475Q	ENST00000379510.3	37	c.1423	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706313	0.89018	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.28895	2.19;1.59;1.8;2.12	5.88	5.88	0.94601	Connector enhancer of kinase suppressor of ras 2 (1);	0.051805	0.85682	D	0.000000	T	0.45796	0.1360	L	0.49778	1.585	0.49483	D	0.999799	P;P;D;P	0.53151	0.754;0.924;0.958;0.876	B;P;P;P	0.54174	0.403;0.588;0.744;0.653	T	0.35599	-0.9782	10	0.66056	D	0.02	3.8276	19.1445	0.93459	0.0:0.0:1.0:0.0	.	445;426;67;475	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	Q	445;426;475;475	ENSP00000397906:E445Q;ENSP00000444633:E426Q;ENSP00000279451:E475Q;ENSP00000368824:E475Q	ENSP00000279451:E475Q	E	+	1	0	CNKSR2	21491306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.842000	0.86851	2.471000	0.83476	0.600000	0.82982	GAA	CNKSR2	-	pfam_CNKSR2		0.328	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	G	NM_014927		21581385	1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	C	C	21581385	G	C	21581385	3	2	167	1	0	0	0	0	1	0	0	0	3612	1291	45	1	1473	1	CNKSR2	23	21581385	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	7805550	21581385	133689175	38	31715										
RPS6KA6	27330	genome.wustl.edu	37	chrX	83351215	83351215	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	tttatacctttgctccgtctGaaatattgtcccagtttcca	5	11	1	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:83351215G>A	ENST00000262752.2	-	20	1965	c.1958C>T	c.(1957-1959)tCa>tTa	p.S653L	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S653L|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	653	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGCTCCGTCTGAAATATTGTC	0.373																																																	0													77	63	68					X																	83351215		2203	4300	6503	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1958C>T	X.37:g.83351215G>A	ENSP00000262752:p.Ser653Leu		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.S653L	ENST00000262752.2	37	c.1958	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409172	0.83340	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.52057	0.68;0.68	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147752	0.47852	D	0.000212	T	0.77164	0.4090	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.979	D	0.84648	0.0699	10	0.87932	D	0	.	17.3393	0.87291	0.0:0.0:1.0:0.0	.	653;653	B7ZL90;Q9UK32	.;KS6A6_HUMAN	L	653	ENSP00000262752:S653L;ENSP00000440830:S653L	ENSP00000262752:S653L	S	-	2	0	RPS6KA6	83237871	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.527000	0.98044	2.106000	0.64143	0.544000	0.68410	TCA	RPS6KA6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.373	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	G	NM_014496		83351215	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83351215	G	A	83351215	3	1	167	1	0	0	0	0	1	0	0	0	13685	1294	45	1	291	1	RPS6KA6	23	83351215	Missense_Mutation	SNP	G	TCGA-LP-A4AU-01A-32D-A243-09	61769830	83351215	71919345	39	31716										
PCDH19	57526	genome.wustl.edu	37	chrX	99661981	99661981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.3	12	0.00175227276507842	2.70644753476612	4.73628318584071	2.36814159292035	0.0391257013278818	0.12443255832146	8	gctttgcagtgagggaaggcCgccgtccttggccagcacct	14	13	0	1			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:99661981C>T	ENST00000373034.4	-	1	3290	c.1615G>A	c.(1615-1617)Ggc>Agc	p.G539S	PCDH19_ENST00000255531.7_Missense_Mutation_p.G539S|PCDH19_ENST00000420881.2_Missense_Mutation_p.G539S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						GAGGGAAGGCCGCCGTCCTTG	0.577																																																	0													130	127	128					X																	99661981		2160	4252	6412	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1615G>A	X.37:g.99661981C>T	ENSP00000362125:p.Gly539Ser		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G539S	ENST00000373034.4	37	c.1615	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438968	0.83885	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.66280	-0.2;-0.2;-0.2	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82921	0.5142	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85682	0.1301	10	0.87932	D	0	.	18.9952	0.92810	0.0:1.0:0.0:0.0	.	539;539;539	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	S	539	ENSP00000400327:G539S;ENSP00000362125:G539S;ENSP00000255531:G539S	ENSP00000255531:G539S	G	-	1	0	PCDH19	99548637	1.000000	0.71417	0.970000	0.41538	0.925000	0.55904	7.818000	0.86416	2.434000	0.82447	0.513000	0.50165	GGC	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	C	NM_020766		99661981	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99661981	C	T	99661981	3	4	167	1	0	0	0	0	1	0	0	0	11538	652	23	2	1855	2	PCDH19	23	99661981	Missense_Mutation	SNP	C	TCGA-LP-A4AU-01A-32D-A243-09	16310766	99661981	55608579	40	31717										
LZIC	84328	genome.wustl.edu	37	chr1	9992944	9992944	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttccagctttcctaccatcaGatctctatccatctaaaacg	3	14	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:9992944G>A	ENST00000377223.1	-	6	596	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	LZIC_ENST00000377213.1_Silent_p.L117L|LZIC_ENST00000400903.2_Silent_p.L117L|LZIC_ENST00000541052.1_Silent_p.L138L	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	117					response to ionizing radiation (GO:0010212)					breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		CCTACCATCAGATCTCTATCC	0.388																																																	0													158	146	150					1																	9992944		2203	4299	6502	SO:0001819	synonymous_variant	84328			AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.349C>T	1.37:g.9992944G>A			B2R6F0|B4E2N0|Q96IU1	Silent	SNP	pfam_ICAT,superfamily_ICAT	p.L138	ENST00000377223.1	37	c.412	CCDS107.1	1																																																																																			LZIC	-	pfam_ICAT,superfamily_ICAT		0.388	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZIC	HGNC	protein_coding	OTTHUMT00000005037.1	G	NM_032368		9992944	-1	no_errors	ENST00000541052	ensembl	human	known	70_37	silent	SNP	0.999	A	A	9992944	G	A	9992944	2	1	168	1	0	0	0	0	0	0	0	1	9158	933	33	1		1	LZIC	1	9992944	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		9992944	239257677	1	31718										
C1orf127	148345	genome.wustl.edu	37	chr1	11014198	11014198	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttcctccgacttcttggcatCgctgtggggccacaagaaat	10	12	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:11014198C>T	ENST00000377008.4	-	9	922	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	C1orf127_ENST00000377004.4_Splice_Site_p.R326Q			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	159										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTCTTGGCATCGCTGTGGGGC	0.582																																																	0													95	100	98					1																	11014198		2203	4300	6503	SO:0001630	splice_region_variant	148345			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.475-1G>A	1.37:g.11014198C>T			A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.R326Q	ENST00000377008.4	37	c.977		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.917|1.917	-0.449164|-0.449164	0.04572|0.04572	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.23348	.|1.92;1.91	4.93|4.93	-3.64|-3.64	0.04515|0.04515	.|.	.|1.439850	.|0.04755	.|N	.|0.425279	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.10296	.|0.003;0.003;0.003	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.18178|0.18178	-1.0345|-1.0345	5|10	.|0.16896	.|T	.|0.51	0.0225|0.0225	1.7209|1.7209	0.02911|0.02911	0.1115:0.1709:0.2889:0.4287|0.1115:0.1709:0.2889:0.4287	.|.	.|177;177;159	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	N|Q	161;304|326;159	.|ENSP00000366203:R326Q;ENSP00000366207:R159Q	.|ENSP00000366203:R326Q	D|R	-|-	1|2	0|0	C1orf127|C1orf127	10936785|10936785	0.677000|0.677000	0.27577|0.27577	0.004000|0.004000	0.12327|0.12327	0.023000|0.023000	0.10783|0.10783	-0.058000|-0.058000	0.11750|0.11750	-1.076000|-1.076000	0.03125|0.03125	-0.812000|-0.812000	0.03155|0.03155	GAT|CGA	C1orf127	-	NULL		0.582	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		C	NM_173507	Missense_Mutation	11014198	-1	no_errors	ENST00000377004	ensembl	human	known	70_37	missense	SNP	0.097	T	T	11014198	C	T	11014198	5	4	168	1	0	0	0	0	0	0	1	0	1999	898	31	1	1506	1	C1orf127	1	11014198	Splice_Site	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1021254	11014198	238236423	2	31719										
VPS13D	55187	genome.wustl.edu	37	chr1	12316413	12316413	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gccatggccaggagcatggaGagtcgcagccatcactacgt	13	12	1	1	rs148067811	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:12316413G>C	ENST00000358136.3	+	8	823	c.693G>C	c.(691-693)gaG>gaC	p.E231D	VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGCATGGAGAGTCGCAGCC	0.537																																																	0													134	123	127					1																	12316413		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.693G>C	1.37:g.12316413G>C	ENSP00000350854:p.Glu231Asp			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E231D	ENST00000358136.3	37	c.693	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005748	0.35415	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.52526	0.66;0.66	5.94	3.71	0.42584	.	0.164625	0.52532	N	0.000065	T	0.32133	0.0819	L	0.43152	1.355	0.80722	D	1	B;B	0.30741	0.232;0.293	B;B	0.29440	0.102;0.07	T	0.06588	-1.0818	10	0.13853	T	0.58	.	5.4578	0.16600	0.178:0.1984:0.6236:0.0	.	231;231	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	D	231	ENSP00000348666:E231D;ENSP00000350854:E231D	ENSP00000348666:E231D	E	+	3	2	VPS13D	12239000	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.055000	0.41345	1.482000	0.48325	0.650000	0.86243	GAG	VPS13D	-	NULL		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12316413	1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12316413	G	C	12316413	3	2	168	1	0	0	0	0	1	0	0	0	17223	933	33	1	719	1	VPS13D	1	12316413	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1302215	12316413	236934208	3	31720										
VPS13D	55187	genome.wustl.edu	37	chr1	12401881	12401881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggcagccatttgtcccctttGctctgaggaaccacacgggg	12	13	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:12401881G>T	ENST00000358136.3	+	41	8801	c.8671G>T	c.(8671-8673)Gct>Tct	p.A2891S	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2866S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTCCCCTTTGCTCTGAGGAA	0.557																																																	0													98	99	99					1																	12401881		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8671G>T	1.37:g.12401881G>T	ENSP00000350854:p.Ala2891Ser			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A2891S	ENST00000358136.3	37	c.8671	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.539363|5.539363	0.96474|0.96474	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.48836|.	0.8;0.8|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73450|0.73450	0.3588|0.3588	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P|.	0.42620|.	0.561;0.785|.	B;B|.	0.43413|.	0.353;0.419|.	T|T	0.69602|0.69602	-0.5101|-0.5101	10|5	0.22109|.	T|.	0.4|.	.|.	19.8883|19.8883	0.96919|0.96919	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2866;2890|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	S|F	2866;2891|1712	ENSP00000348666:A2866S;ENSP00000350854:A2891S|.	ENSP00000348666:A2866S|.	A|L	+|+	1|3	0|2	VPS13D|VPS13D	12324468|12324468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.476000|9.476000	0.97823|0.97823	2.698000|2.698000	0.92095|0.92095	0.585000|0.585000	0.79938|0.79938	GCT|TTG	VPS13D	-	NULL		0.557	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12401881	1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12401881	G	T	12401881	3	4	168	1	0	0	0	0	1	0	0	0	17223	1319	46	4	8829	4	VPS13D	1	12401881	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	85468	12401881	236848740	4	31721										
PRAMEF1	65121	genome.wustl.edu	37	chr1	12854277	12854277	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gatgaatgcctgagatacctCttccagtgggtttaccaaag	10	9	1	2	rs150987662	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:12854277C>G	ENST00000332296.7	+	3	604	c.501C>G	c.(499-501)ctC>ctG	p.L167L	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	167					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGATACCTCTTCCAGTGGG	0.453																																																	0													123	125	124					1																	12854277		2197	4282	6479	SO:0001819	synonymous_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.501C>G	1.37:g.12854277C>G			Q9UQP2	Silent	SNP	NULL	p.L167	ENST00000332296.7	37	c.501	CCDS148.1	1																																																																																			PRAMEF1	-	NULL		0.453	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	C	NM_023013		12854277	1	no_errors	ENST00000332296	ensembl	human	known	70_37	silent	SNP	0.000	G	G	12854277	C	G	12854277	2	3	168	1	0	0	0	0	0	0	0	1	12452	900	32	1		1	PRAMEF1	1	12854277	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	452396	12854277	236396344	5	31722										
SDHB	6390	genome.wustl.edu	37	chr1	17350561	17350561	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcacagagaatgcactcgtaGagcccgtcctgtatggggag	14	10	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:17350561G>C	ENST00000375499.3	-	6	699	c.549C>G	c.(547-549)ctC>ctG	p.L183L		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	183	4Fe-4S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00711}.				aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	TGCACTCGTAGAGCCCGTCCT	0.532			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"		O	0													41	39	40					1																	17350561		2203	4300	6503	SO:0001819	synonymous_variant	6390	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"Mitochondrial respiratory chain complex / Complex II"	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.549C>G	1.37:g.17350561G>C			B2R545|Q0QEY7|Q9NQ12	Silent	SNP	superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S	p.L183	ENST00000375499.3	37	c.549	CCDS176.1	1																																																																																			SDHB	-	superfamily_Helical_ferredxn,tigrfam_Succ_DH/fum_Rdtase_Fe-S		0.532	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHB	HGNC	protein_coding	OTTHUMT00000006603.1	G	NM_003000		17350561	-1	no_errors	ENST00000375499	ensembl	human	known	70_37	silent	SNP	0.741	C	C	17350561	G	C	17350561	2	2	168	1	0	0	0	0	0	0	0	1	13995	929	33	1		1	SDHB	1	17350561	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	4496284	17350561	231900060	6	31723										
ARHGEF10L	55160	genome.wustl.edu	37	chr1	17966704	17966704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cttctcaccacaggtccggcCgccccattagcttcatggtg	9	16	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:17966704C>T	ENST00000361221.3	+	21	2338	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R722C|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R430C|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R688C|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R500C|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R688C	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	727						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGGTCCGGCCGCCCCATTAG	0.562																																																	0													77	62	67					1																	17966704		2202	4300	6502	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2179C>T	1.37:g.17966704C>T	ENSP00000355060:p.Arg727Cys		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.R727C	ENST00000361221.3	37	c.2179	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731488	0.89390	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.63580	0.18;0.24;0.02;0.24;-0.05;2.22	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.81331	0.4800	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.993;0.999;1.0;0.993;0.997;1.0;1.0	D	0.84135	0.0414	10	0.87932	D	0	-28.4818	17.6216	0.88083	0.0:1.0:0.0:0.0	.	500;722;430;488;683;688;727	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	C	727;688;722;688;500;500;430	ENSP00000355060:R727C;ENSP00000399401:R688C;ENSP00000394621:R722C;ENSP00000364564:R688C;ENSP00000364557:R500C;ENSP00000167825:R430C	ENSP00000167825:R430C	R	+	1	0	ARHGEF10L	17839291	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.361000	0.66092	2.510000	0.84645	0.563000	0.77884	CGC	ARHGEF10L	-	NULL		0.562	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	C	NM_018125		17966704	1	no_errors	ENST00000361221	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17966704	C	T	17966704	3	4	168	1	0	0	0	0	1	0	0	0	895	652	23	2	2257	2	ARHGEF10L	1	17966704	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	616143	17966704	231283917	7	31724										
KIAA0090	23065	genome.wustl.edu	37	chr1	19553813	19553813	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctggctgtatgtaccttgtaGagcacactgcggtcccccat	10	13	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:19553813G>C	ENST00000477853.1	-	18	2238	c.2196C>G	c.(2194-2196)ctC>ctG	p.L732L	EMC1_ENST00000375199.3_Silent_p.L731L|EMC1_ENST00000375208.3_Silent_p.L710L|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	732						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GTACCTTGTAGAGCACACTGC	0.532																																																	0													132	102	112					1																	19553813		2203	4300	6503	SO:0001819	synonymous_variant	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2196C>G	1.37:g.19553813G>C			A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.L732	ENST00000477853.1	37	c.2196	CCDS190.1	1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900843	0.17686	.	.	ENSG00000127463	ENST00000375197	.	.	.	4.53	4.53	0.55603	.	0.145174	0.51477	D	0.000091	T	0.64516	0.2605	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66400	-0.5933	6	0.56958	D	0.05	-12.6211	9.7384	0.40401	0.095:0.0:0.905:0.0	.	.	.	.	V	466	.	ENSP00000364343:L466V	L	-	1	2	KIAA0090	19426400	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.176000	0.31957	2.350000	0.79820	0.462000	0.41574	CTA	EMC1	-	NULL		0.532	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	G	NM_015047		19553813	-1	no_errors	ENST00000477853	ensembl	human	known	70_37	silent	SNP	1.000	C	C	19553813	G	C	19553813	2	2	168	1	0	0	0	0	0	0	0	1	8173	929	33	1		1	KIAA0090	1	19553813	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1587109	19553813	229696808	8	31725										
MED18	54797	genome.wustl.edu	37	chr1	28661017	28661017	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgagactttccttgaccatGagatggtattcctccttaag	8	10	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:28661017G>A	ENST00000373842.4	+	3	372	c.163G>A	c.(163-165)Gag>Aag	p.E55K	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.E55K	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	55						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGACCATGAGATGGTATT	0.532																																																	0													210	205	207					1																	28661017		2203	4300	6503	SO:0001583	missense	54797			BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.163G>A	1.37:g.28661017G>A	ENSP00000362948:p.Glu55Lys		D3DPM1|Q9NXU9	Missense_Mutation	SNP	pfam_Mediator_Med18_met/fun	p.E55K	ENST00000373842.4	37	c.163	CCDS322.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939963	0.92526	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	4.84	0.62591	Mediator complex, subunit Med18, metazoa/fungi (1);	0.097554	0.64402	D	0.000002	T	0.71660	0.3366	M	0.77486	2.375	0.32214	N	0.576115	D	0.76494	0.999	D	0.83275	0.996	T	0.79584	-0.1743	9	0.72032	D	0.01	-22.6512	12.528	0.56098	0.0807:0.0:0.9193:0.0	.	55	Q9BUE0	MED18_HUMAN	K	55	.	ENSP00000362948:E55K	E	+	1	0	MED18	28533604	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.242000	0.95408	1.452000	0.47756	-0.136000	0.14681	GAG	MED18	-	pfam_Mediator_Med18_met/fun		0.532	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED18	HGNC	protein_coding	OTTHUMT00000009856.1	G	NM_017638		28661017	1	no_errors	ENST00000373842	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28661017	G	A	28661017	3	1	168	1	0	0	0	0	1	0	0	0	9459	1291	45	1	169	1	MED18	1	28661017	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	9107204	28661017	220589604	9	31726										
TMEM39B	55116	genome.wustl.edu	37	chr1	32540602	32540602	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actgtcgaaatccgctctgtGagccgggatcctcggggggc	15	12	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:32540602G>T	ENST00000336294.5	+	2	201	c.55G>T	c.(55-57)Gag>Tag	p.E19*	TMEM39B_ENST00000487305.1_3'UTR|RP11-277A4.4_ENST00000366152.3_RNA|TMEM39B_ENST00000373634.4_5'UTR|TMEM39B_ENST00000456834.2_Nonsense_Mutation_p.E19*|TMEM39B_ENST00000427288.1_5'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	19						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCGCTCTGTGAGCCGGGATC	0.557																																																	0													47	52	51					1																	32540602		692	1591	2283	SO:0001587	stop_gained	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.55G>T	1.37:g.32540602G>T	ENSP00000338165:p.Glu19*		B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Nonsense_Mutation	SNP	pfam_Uncharacterised_TMEM39	p.E19*	ENST00000336294.5	37	c.55	CCDS351.2	1	.	.	.	.	.	.	.	.	.	.	G	36	5.878723	0.97055	.	.	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000456834	.	.	.	4.81	4.81	0.61882	.	0.113720	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-18.0727	18.2567	0.90022	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000338165:E19X	E	+	1	0	TMEM39B	32313189	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.733000	0.84916	2.384000	0.81235	0.655000	0.94253	GAG	TMEM39B	-	NULL		0.557	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39B	HGNC	protein_coding	OTTHUMT00000011489.2	G	NM_018056		32540602	1	no_errors	ENST00000336294	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	32540602	G	T	32540602	4	4	168	1	0	0	0	0	0	1	0	0	16192	1291	45	3	61	3	TMEM39B	1	32540602	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3879585	32540602	216710019	10	31727										
TMEM54	113452	genome.wustl.edu	37	chr1	33360407	33360407	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgggcaggacatcatctctCagagggtcagaggctcagag	14	10	5	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:33360407C>G	ENST00000373463.3	-	6	787	c.668G>C	c.(667-669)tGa>tCa	p.*223S	TMEM54_ENST00000475208.1_5'Flank|TMEM54_ENST00000329151.5_Nonstop_Mutation_p.*170S	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	0						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATCATCTCTCAGAGGGTCAG	0.632																																																	0													70	68	69					1																	33360407		2203	4300	6503	SO:0001578	stop_lost	113452				CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.668G>C	1.37:g.33360407C>G			Q6UV18|Q8IVD0|Q9UM12	Nonstop_Mutation	SNP	pfam_Beta-casein-like	p.*223S	ENST00000373463.3	37	c.668	CCDS371.1	1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118678	0.37436	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	.	.	.	5.2	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0772	0.36529	0.0:0.9013:0.0:0.0987	.	.	.	.	S	223;170	.	.	X	-	2	2	TMEM54	33132994	0.982000	0.34865	0.997000	0.53966	0.377000	0.30045	1.934000	0.40163	2.614000	0.88457	0.650000	0.86243	TGA	TMEM54	-	NULL		0.632	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM54	HGNC	protein_coding	OTTHUMT00000011474.1	C	NM_033504		33360407	-1	no_errors	ENST00000373463	ensembl	human	known	70_37	nonstop	SNP	0.997	G	G	33360407	C	G	33360407	4	3	168	1	0	0	0	0	0	0	0	0	16210	837	29	1	4	1	TMEM54	1	33360407	Nonstop_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	819805	33360407	215890214	11	31728										
GJB3	2707	genome.wustl.edu	37	chr1	35250432	35250432	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tccacagcgttcgggcgcatCtggctgtccgtggtgttcgt	14	12	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:35250432C>T	ENST00000373366.2	+	2	684	c.69C>T	c.(67-69)atC>atT	p.I23I	GJB3_ENST00000373362.3_Silent_p.I23I|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	23					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCGGGCGCATCTGGCTGTCCG	0.617																																																	0													157	116	130					1																	35250432		2203	4300	6503	SO:0001819	synonymous_variant	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.69C>T	1.37:g.35250432C>T			B2R790|Q2TAZ8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31	p.I23	ENST00000373366.2	37	c.69	CCDS384.1	1																																																																																			GJB3	-	pfam_Connexin_N,prints_Connexin		0.617	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB3	HGNC	protein_coding	OTTHUMT00000011559.1	C	NM_024009		35250432	1	no_errors	ENST00000373362	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35250432	C	T	35250432	2	4	168	1	0	0	0	0	0	0	0	1	6428	903	32	1		1	GJB3	1	35250432	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1890025	35250432	214000189	12	31729										
TRIT1	54802	genome.wustl.edu	37	chr1	40315816	40315816	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggtcagcatgaagccaaagGatgcaagggttagagaactt	13	6	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:40315816G>A	ENST00000316891.5	-	5	692	c.678C>T	c.(676-678)atC>atT	p.I226I	TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Silent_p.I146I|TRIT1_ENST00000372818.1_Silent_p.I226I	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	226					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGCCAAAGGATGCAAGGGT	0.458																																																	0													100	91	94					1																	40315816		2203	4300	6503	SO:0001819	synonymous_variant	54802			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.678C>T	1.37:g.40315816G>A			A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Silent	SNP	pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase	p.I226	ENST00000316891.5	37	c.678	CCDS30681.1	1																																																																																			TRIT1	-	pfam_IPPT,tigrfam_tRNA_delta_PyrP_Trfase		0.458	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRIT1	HGNC	protein_coding	OTTHUMT00000025627.2	G	NM_017646		40315816	-1	no_errors	ENST00000316891	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40315816	G	A	40315816	2	1	168	1	0	0	0	0	0	0	0	1	16591	1164	41	1		1	TRIT1	1	40315816	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	5065384	40315816	208934805	13	31730										
HIVEP3	59269	genome.wustl.edu	37	chr1	42047016	42047016	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtcctggctcatgctgcacGagatgctggaaggagaaaag	14	8	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:42047016G>A	ENST00000372583.1	-	4	4338	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L	HIVEP3_ENST00000372584.1_Silent_p.L1151L|HIVEP3_ENST00000247584.5_Silent_p.L1151L|HIVEP3_ENST00000429157.2_Silent_p.L1151L|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1151					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATGCTGCACGAGATGCTGGA	0.587																																																	0													126	121	122					1																	42047016		2203	4300	6503	SO:0001819	synonymous_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3453C>T	1.37:g.42047016G>A			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1151	ENST00000372583.1	37	c.3453	CCDS463.1	1																																																																																			HIVEP3	-	NULL		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	G	NM_024503		42047016	-1	no_errors	ENST00000247584	ensembl	human	known	70_37	silent	SNP	0.008	A	A	42047016	G	A	42047016	2	1	168	1	0	0	0	0	0	0	0	1	7208	1045	37	1		1	HIVEP3	1	42047016	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1731200	42047016	207203605	14	31731										
PPIH	10465	genome.wustl.edu	37	chr1	43125213	43125213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaaagatggggttccaatagGatacaaaggaagcaccttcc	11	8	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:43125213G>A	ENST00000304979.3	+	4	198	c.176G>A	c.(175-177)gGa>gAa	p.G59E	PPIH_ENST00000455203.2_Missense_Mutation_p.G16E|PPIH_ENST00000372550.1_Missense_Mutation_p.G16E	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	59	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|ribonucleoprotein complex binding (GO:0043021)			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GTTCCAATAGGATACAAAGGA	0.453																																					NSCLC(73;23 1942 10718 46854)												0													131	132	132					1																	43125213		2203	4300	6503	SO:0001583	missense	10465			AF016371	CCDS469.1	1p34.1	2012-06-07	2006-01-12		ENSG00000171960	ENSG00000171960			14651	protein-coding gene	gene with protein product	"USA-CyP SnuCyp-20", "cyclophilin H", "U-snRNP-associated cyclophilin SunCyp-20", "small nuclear ribonucleoprotein particle-specific cyclophilin H", "rotamase H", "peptidyl-prolyl cis-trans isomerase H", "PPIase h"	606095	"peptidyl prolyl isomerase H (cyclophilin H)"			9404889, 9570313	Standard	NM_006347		Approved	USA-CYP, CYP-20, SnuCyp-20, CYPH, MGC5016	uc001chq.3	O43447	OTTHUMG00000007520	ENST00000304979.3:c.176G>A	1.37:g.43125213G>A	ENSP00000306614:p.Gly59Glu		A6NNE7	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.G59E	ENST00000304979.3	37	c.176	CCDS469.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.112958	0.94339	.	.	ENSG00000171960	ENST00000304979;ENST00000372550;ENST00000440068;ENST00000455203;ENST00000436387	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.83	5.83	0.93111	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49062	-0.8978	10	0.66056	D	0.02	.	17.6198	0.88077	0.0:0.0:1.0:0.0	.	16;59	A6NNE7;O43447	.;PPIH_HUMAN	E	59;16;33;16;29	ENSP00000306614:G59E;ENSP00000361630:G16E;ENSP00000402836:G33E;ENSP00000416361:G16E;ENSP00000405493:G29E	ENSP00000306614:G59E	G	+	2	0	PPIH	42897800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.246000	0.89828	2.749000	0.94314	0.655000	0.94253	GGA	PPIH	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom		0.453	PPIH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIH	HGNC	protein_coding	OTTHUMT00000019778.1	G	NM_006347		43125213	1	no_errors	ENST00000304979	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43125213	G	A	43125213	3	1	168	1	0	0	0	0	1	0	0	0	12352	1174	41	1	190	1	PPIH	1	43125213	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1078197	43125213	206125408	15	31732										
IPO13	9670	genome.wustl.edu	37	chr1	44422596	44422596	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggcccagttcccttctgatGaggaatatggattctggtcc	11	10	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:44422596G>A	ENST00000372343.3	+	5	1881	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	407					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D406del(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCTTCTGATGAGGAATATGG	0.502																																																	1	Deletion - In frame(1)	central_nervous_system(1)											67	64	65					1																	44422596		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1219G>A	1.37:g.44422596G>A	ENSP00000361418:p.Glu407Lys		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E407K	ENST00000372343.3	37	c.1219	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502344	0.64298	.	.	ENSG00000117408	ENST00000372343	T	0.71698	-0.59	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.052699	0.85682	D	0.000000	T	0.60663	0.2286	N	0.19112	0.55	0.80722	D	1	B	0.18310	0.027	B	0.18263	0.021	T	0.52147	-0.8614	10	0.31617	T	0.26	-17.0433	20.5596	0.99324	0.0:0.0:1.0:0.0	.	407	O94829	IPO13_HUMAN	K	407	ENSP00000361418:E407K	ENSP00000361418:E407K	E	+	1	0	IPO13	44195183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.334000	0.79224	2.868000	0.98415	0.555000	0.69702	GAG	IPO13	-	superfamily_ARM-type_fold		0.502	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	G	NM_014652		44422596	1	no_errors	ENST00000372343	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44422596	G	A	44422596	3	1	168	1	0	0	0	0	1	0	0	0	7814	1291	45	1	1237	1	IPO13	1	44422596	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1297383	44422596	204828025	16	31733										
TCTEX1D4	343521	genome.wustl.edu	37	chr1	45271718	45271718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccgtggccaccgcgaagagcGaggtgttggtgtaggagacc	17	10	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:45271718G>A	ENST00000339355.2	-	1	629	c.623C>T	c.(622-624)tCg>tTg	p.S208L	BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.S208L|BTBD19_ENST00000453418.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	208						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CGCGAAGAGCGAGGTGTTGGT	0.667																																																	0													18	21	20					1																	45271718		2201	4297	6498	SO:0001583	missense	343521			BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.623C>T	1.37:g.45271718G>A	ENSP00000341803:p.Ser208Leu			Missense_Mutation	SNP	pfam_Tctex	p.S208L	ENST00000339355.2	37	c.623	CCDS30699.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420111	0.83559	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.32988	1.43;1.43	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000010	T	0.64283	0.2584	M	0.92604	3.325	0.54753	D	0.999986	D	0.76494	0.999	D	0.68765	0.96	T	0.73232	-0.4048	10	0.66056	D	0.02	-0.589	15.9529	0.79859	0.0:0.0:1.0:0.0	.	208	Q5JR98	TC1D4_HUMAN	L	208	ENSP00000341803:S208L;ENSP00000361274:S208L	ENSP00000341803:S208L	S	-	2	0	TCTEX1D4	45044305	1.000000	0.71417	0.598000	0.28837	0.570000	0.35934	7.113000	0.77095	2.540000	0.85666	0.555000	0.69702	TCG	TCTEX1D4	-	pfam_Tctex		0.667	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D4	HGNC	protein_coding	OTTHUMT00000023733.1	G	NM_001013632		45271718	-1	no_errors	ENST00000339355	ensembl	human	known	70_37	missense	SNP	0.912	A	A	45271718	G	A	45271718	3	1	168	1	0	0	0	0	1	0	0	0	15751	1059	37	1	46	1	TCTEX1D4	1	45271718	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	849122	45271718	203978903	17	31734										
RAD54L	8438	genome.wustl.edu	37	chr1	46715746	46715746	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tctccttttcggaaacctttGagtcagctaaccaatcaacc	5	13	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:46715746G>C	ENST00000371975.4	+	3	839	c.165G>C	c.(163-165)ttG>ttC	p.L55F	RAD54L_ENST00000442598.1_Missense_Mutation_p.L55F	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	55					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGAAACCTTTGAGTCAGCTAA	0.498								Direct reversal of damage;Homologous recombination																																									0													173	149	157					1																	46715746		2203	4300	6503	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.165G>C	1.37:g.46715746G>C	ENSP00000361043:p.Leu55Phe		Q5TE31|Q6IUY3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L55F	ENST00000371975.4	37	c.165	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880989	0.72294	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.89875	-2.58;-2.58	4.95	4.04	0.47022	.	0.000000	0.64402	D	0.000001	D	0.92928	0.7750	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.92361	0.5897	10	0.44086	T	0.13	-6.1207	13.2105	0.59821	0.0789:0.0:0.9211:0.0	.	55	Q92698	RAD54_HUMAN	F	55	ENSP00000396113:L55F;ENSP00000361043:L55F	ENSP00000361043:L55F	L	+	3	2	RAD54L	46488333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.835000	0.48175	1.208000	0.43306	0.655000	0.94253	TTG	RAD54L	-	NULL		0.498	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	G	NM_003579		46715746	1	no_errors	ENST00000371975	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46715746	G	C	46715746	3	2	168	1	0	0	0	0	1	0	0	0	13023	1281	45	1	175	1	RAD54L	1	46715746	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1444028	46715746	202534875	18	31735										
SLC5A9	200010	genome.wustl.edu	37	chr1	48703375	48703375	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tttgtggtgttcctggttgtCatcagcatcctctggatccc	10	11	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:48703375C>T	ENST00000438567.2	+	11	1369	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V	SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.V460V|SLC5A9_ENST00000236495.5_Silent_p.V464V	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	439					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCCTGGTTGTCATCAGCATCC	0.582																																																	0													189	147	161					1																	48703375		2203	4300	6503	SO:0001819	synonymous_variant	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1317C>T	1.37:g.48703375C>T			B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V464	ENST00000438567.2	37	c.1392	CCDS30709.2	1																																																																																			SLC5A9	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	C	XM_117174		48703375	1	no_errors	ENST00000236495	ensembl	human	known	70_37	silent	SNP	0.511	T	T	48703375	C	T	48703375	2	4	168	1	0	0	0	0	0	0	0	1	14702	813	29	1		1	SLC5A9	1	48703375	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1987629	48703375	200547246	19	31736										
ORC1L	4998	genome.wustl.edu	37	chr1	52859356	52859356	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agacaaggtttgaagtttatCaggctgagatctcttagaag	11	5	2	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:52859356C>G	ENST00000371568.3	-	6	1059	c.841G>C	c.(841-843)Gat>Cat	p.D281H	ORC1_ENST00000371566.1_Missense_Mutation_p.D281H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	281					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAAGTTTATCAGGCTGAGAT	0.478																																																	0													102	100	101					1																	52859356		2203	4300	6503	SO:0001583	missense	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.841G>C	1.37:g.52859356C>G	ENSP00000360623:p.Asp281His		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom	p.D281H	ENST00000371568.3	37	c.841	CCDS566.1	1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.633015	0.47049	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.51071	0.72;0.72	5.24	3.33	0.38152	.	0.679182	0.16210	N	0.224517	T	0.52451	0.1735	L	0.57536	1.79	0.09310	N	1	P;P	0.51791	0.948;0.948	P;B	0.50791	0.65;0.395	T	0.41538	-0.9503	10	0.37606	T	0.19	-1.3876	12.0968	0.53758	0.0:0.6704:0.3296:0.0	.	281;281	B7Z8H0;Q13415	.;ORC1_HUMAN	H	281	ENSP00000360623:D281H;ENSP00000360621:D281H	ENSP00000360621:D281H	D	-	1	0	ORC1	52631944	0.002000	0.14202	0.008000	0.14137	0.880000	0.50808	0.316000	0.19469	0.738000	0.32606	0.655000	0.94253	GAT	ORC1	-	NULL		0.478	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC1	HGNC	protein_coding	OTTHUMT00000022202.1	C	NM_004153		52859356	-1	no_errors	ENST00000371566	ensembl	human	known	70_37	missense	SNP	0.017	G	G	52859356	C	G	52859356	3	3	168	1	0	0	0	0	1	0	0	0	11285	826	29	1	1792	1	ORC1L	1	52859356	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	4155981	52859356	196391265	20	31737										
INADL	10207	genome.wustl.edu	37	chr1	62232113	62232113	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccccgaagttgggaaatgaaGactttaactcagtcattcaa	8	9	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:62232113G>A	ENST00000371158.2	+	4	466	c.352G>A	c.(352-354)Gac>Aac	p.D118N	INADL_ENST00000316485.6_Missense_Mutation_p.D118N	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	118					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGGAAATGAAGACTTTAACTC	0.403																																																	0													100	97	98					1																	62232113		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.352G>A	1.37:g.62232113G>A	ENSP00000360200:p.Asp118Asn		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.D118N	ENST00000371158.2	37	c.352	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419730	0.62622	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.13307	2.71;2.6	5.97	5.06	0.68205	.	0.297866	0.32068	N	0.006640	T	0.17831	0.0428	L	0.57536	1.79	0.80722	D	1	B;B;B	0.31611	0.331;0.325;0.325	B;B;B	0.34873	0.189;0.092;0.191	T	0.01810	-1.1269	10	0.44086	T	0.13	.	13.2908	0.60270	0.0727:0.0:0.9273:0.0	.	118;118;118	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	N	118	ENSP00000360200:D118N;ENSP00000326199:D118N	ENSP00000255202:D118N	D	+	1	0	INADL	62004701	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.437000	0.52863	1.530000	0.49136	0.591000	0.81541	GAC	INADL	-	NULL		0.403	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	G	NM_170605		62232113	1	no_errors	ENST00000371158	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62232113	G	A	62232113	3	1	168	1	0	0	0	0	1	0	0	0	7751	942	33	1	362	1	INADL	1	62232113	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	9372757	62232113	187018508	21	31738										
DNAJC6	9829	genome.wustl.edu	37	chr1	65860665	65860665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tctgaacacatccagtgcttCcagtgacccctttctccagc	6	16	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:65860665C>T	ENST00000395325.3	+	13	1974	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	DNAJC6_ENST00000263441.7_Missense_Mutation_p.S593F|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S663F	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	606	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCCAGTGCTTCCAGTGACCCC	0.443																																																	0													153	157	155					1																	65860665		2203	4300	6503	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1817C>T	1.37:g.65860665C>T	ENSP00000378735:p.Ser606Phe		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.S663F	ENST00000395325.3	37	c.1988	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472246	0.43942	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93307	-3.2;-3.2;-3.2	5.37	5.37	0.77165	.	0.357494	0.31495	N	0.007542	D	0.89729	0.6799	N	0.22421	0.69	0.32824	D	0.5031	P;P	0.51057	0.941;0.902	P;B	0.50708	0.648;0.445	D	0.89465	0.3739	10	0.49607	T	0.09	.	19.3111	0.94188	0.0:1.0:0.0:0.0	.	663;606	O75061-2;O75061	.;AUXI_HUMAN	F	593;606;663	ENSP00000263441:S593F;ENSP00000378735:S606F;ENSP00000360108:S663F	ENSP00000263441:S593F	S	+	2	0	DNAJC6	65633253	0.986000	0.35501	0.997000	0.53966	0.114000	0.19823	3.180000	0.50895	2.789000	0.95967	0.650000	0.86243	TCC	DNAJC6	-	NULL		0.443	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	C			65860665	1	no_errors	ENST00000371069	ensembl	human	known	70_37	missense	SNP	0.999	T	T	65860665	C	T	65860665	3	4	168	1	0	0	0	0	1	0	0	0	4663	855	30	1	1867	1	DNAJC6	1	65860665	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3628552	65860665	183389956	22	31739										
C1orf141	400757	genome.wustl.edu	37	chr1	67559205	67559205	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tttcattttccaaaggatgaGaagaaaatctattttttgtc	6	5	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:67559205G>C	ENST00000371007.2	-	8	795	c.686C>G	c.(685-687)tCt>tGt	p.S229C	C1orf141_ENST00000371006.1_Missense_Mutation_p.S229C|C1orf141_ENST00000544837.1_Missense_Mutation_p.S229C	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	229										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CAAAGGATGAGAAGAAAATCT	0.284																																																	0													42	43	43					1																	67559205		2200	4287	6487	SO:0001583	missense	400757			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.686C>G	1.37:g.67559205G>C	ENSP00000360046:p.Ser229Cys		Q0P5P5|Q5JVX5	Missense_Mutation	SNP	NULL	p.S229C	ENST00000371007.2	37	c.686	CCDS30745.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078635	0.36662	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.30448	1.53;1.53;1.53	4.86	0.67	0.17923	.	0.800182	0.10927	N	0.618768	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	P	0.52463	0.953	P	0.48571	0.582	T	0.08659	-1.0711	10	0.52906	T	0.07	1.208	2.7681	0.05327	0.3553:0.0:0.4413:0.2034	.	229	Q5JVX7	CA141_HUMAN	C	229	ENSP00000360046:S229C;ENSP00000360045:S229C;ENSP00000444018:S229C	ENSP00000360045:S229C	S	-	2	0	C1orf141	67331793	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.216000	0.09266	0.251000	0.21505	0.561000	0.74099	TCT	C1orf141	-	NULL		0.284	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf141	HGNC	protein_coding	OTTHUMT00000026096.2	G	NM_001013674		67559205	-1	no_errors	ENST00000371006	ensembl	human	known	70_37	missense	SNP	0.001	C	C	67559205	G	C	67559205	3	2	168	1	0	0	0	0	1	0	0	0	2006	942	33	1	520	1	C1orf141	1	67559205	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1698540	67559205	181691416	23	31740										
MSH4	4438	genome.wustl.edu	37	chr1	76280787	76280787	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttgaacagttatgcatagcaGaattcagcactgtcctaatg	8	8	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:76280787G>A	ENST00000263187.3	+	5	885	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	261					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATGCATAGCAGAATTCAGCAC	0.299								Mismatch excision repair (MMR)																																									0													87	90	89					1																	76280787		2203	4298	6501	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.781G>A	1.37:g.76280787G>A	ENSP00000263187:p.Glu261Lys		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.E261K	ENST00000263187.3	37	c.781	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.136032	0.94517	.	.	ENSG00000057468	ENST00000263187	T	0.58652	0.32	5.23	5.23	0.72850	DNA mismatch repair protein MutS, connector (2);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.71036	2.16	0.58432	D	0.999997	D	0.67145	0.996	D	0.68353	0.957	T	0.71909	-0.4450	10	0.54805	T	0.06	-19.3212	19.1847	0.93639	0.0:0.0:1.0:0.0	.	261	O15457	MSH4_HUMAN	K	261	ENSP00000263187:E261K	ENSP00000263187:E261K	E	+	1	0	MSH4	76053375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.836000	0.92105	2.631000	0.89168	0.655000	0.94253	GAA	MSH4	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt		0.299	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	G	NM_002440		76280787	1	no_errors	ENST00000263187	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76280787	G	A	76280787	3	1	168	1	0	0	0	0	1	0	0	0	9895	943	33	1	799	1	MSH4	1	76280787	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	8721582	76280787	172969834	24	31741										
ELTD1	64123	genome.wustl.edu	37	chr1	79403949	79403949	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttgtagcaaagccacaggttCttttatggatctgatctgag	10	7	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:79403949C>A	ENST00000370742.3	-	5	475	c.412G>T	c.(412-414)Gaa>Taa	p.E138*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	138					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCCACAGGTTCTTTTATGGAT	0.303																																																	0													42	38	39					1																	79403949		1798	4058	5856	SO:0001587	stop_gained	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.412G>T	1.37:g.79403949C>A	ENSP00000359778:p.Glu138*		B1AR71|Q5KU34	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E138*	ENST00000370742.3	37	c.412	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582825	0.46006	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.81	2.92	0.33932	.	0.315023	0.39210	N	0.001421	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1822	0.25778	0.0:0.6448:0.1364:0.2189	.	.	.	.	X	138	.	.	E	-	1	0	ELTD1	79176537	0.911000	0.30947	0.371000	0.25978	0.054000	0.15201	1.652000	0.37313	0.358000	0.24211	-0.142000	0.14014	GAA	ELTD1	-	pfam_DUF3497		0.303	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	C	NM_022159		79403949	-1	no_errors	ENST00000370742	ensembl	human	known	70_37	nonsense	SNP	0.611	A	A	79403949	C	A	79403949	4	1	168	1	0	0	0	0	0	1	0	0	5096	922	32	3	1704	3	ELTD1	1	79403949	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3123162	79403949	169846672	25	31742										
SYDE2	84144	genome.wustl.edu	37	chr1	85630294	85630294	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agttcttctgaatcagtaaaGactctgttgttatgggtgga	11	5	4	2	rs77178722	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:85630294G>C	ENST00000341460.5	-	6	3049	c.3000C>G	c.(2998-3000)gtC>gtG	p.V1000V		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1000	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATCAGTAAAGACTCTGTTGT	0.388																																																	0													70	66	67					1																	85630294		1870	4104	5974	SO:0001819	synonymous_variant	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3000C>G	1.37:g.85630294G>C			Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V1000	ENST00000341460.5	37	c.3000	CCDS44169.1	1																																																																																			SYDE2	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.388	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	G			85630294	-1	no_errors	ENST00000341460	ensembl	human	known	70_37	silent	SNP	1.000	C	C	85630294	G	C	85630294	2	2	168	1	0	0	0	0	0	0	0	1	15466	929	33	1		1	SYDE2	1	85630294	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	6226345	85630294	163620327	26	31743										
HFM1	164045	genome.wustl.edu	37	chr1	91844728	91844728	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	attggtccaaatttttctttCcagtcatcaaaacgctgact	5	10	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:91844728C>T	ENST00000370425.3	-	9	1148	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.W29*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	350	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATTTTTCTTTCCAGTCATCAA	0.313																																																	0													84	81	82					1																	91844728		2203	4299	6502	SO:0001587	stop_gained	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1050G>A	1.37:g.91844728C>T	ENSP00000359454:p.Trp350*		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W350*	ENST00000370425.3	37	c.1050	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	C	37	6.236851	0.97403	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	.	.	.	5.66	5.66	0.87406	.	0.000000	0.43110	U	0.000619	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7394	0.96219	0.0:1.0:0.0:0.0	.	.	.	.	X	350;29;34;383	.	ENSP00000359450:W34X	W	-	3	0	HFM1	91617316	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.487000	0.81328	2.649000	0.89929	0.563000	0.77884	TGG	HFM1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91844728	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	91844728	C	T	91844728	4	4	168	1	0	0	0	0	0	1	0	0	7103	856	30	1	3381	1	HFM1	1	91844728	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6214434	91844728	157405893	27	31744										
CHIA	27159	genome.wustl.edu	37	chr1	111861126	111861126	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acattgcaggattatgtcatGaactactggaaggacaatgg	11	6	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:111861126G>A	ENST00000369740.1	+	9	844	c.741G>A	c.(739-741)atG>atA	p.M247I	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Missense_Mutation_p.M86I|CHIA_ENST00000343320.6_Missense_Mutation_p.M247I|CHIA_ENST00000451398.2_Missense_Mutation_p.M86I|CHIA_ENST00000483391.1_Missense_Mutation_p.M86I|CHIA_ENST00000430615.1_Missense_Mutation_p.M139I	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	247					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ATTATGTCATGAACTACTGGA	0.473																																																	0													101	90	93					1																	111861126		2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.741G>A	1.37:g.111861126G>A	ENSP00000358755:p.Met247Ile		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.M247I	ENST00000369740.1	37	c.741	CCDS41368.1	1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380053	0.42207	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	4.57	4.57	0.56435	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	U	0.000001	T	0.01695	0.0054	N	0.13043	0.29	0.41028	D	0.985132	B	0.16603	0.018	B	0.28305	0.088	T	0.53173	-0.8476	10	0.25751	T	0.34	-17.6598	15.2301	0.73381	0.0:0.0:1.0:0.0	.	247	Q9BZP6	CHIA_HUMAN	I	191;86;247;247;86;86;86;139	ENSP00000387671:M191I;ENSP00000436946:M86I;ENSP00000358755:M247I;ENSP00000341828:M247I;ENSP00000390476:M86I;ENSP00000338970:M86I;ENSP00000433309:M86I;ENSP00000391132:M139I	ENSP00000341828:M247I	M	+	3	0	CHIA	111662649	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	6.845000	0.75394	2.245000	0.73994	0.563000	0.77884	ATG	CHIA	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.473	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIA	HGNC	protein_coding	OTTHUMT00000030710.1	G			111861126	1	no_errors	ENST00000343320	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111861126	G	A	111861126	3	1	168	1	0	0	0	0	1	0	0	0	3347	1290	45	1	771	1	CHIA	1	111861126	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	20016398	111861126	137389495	28	31745										
MOV10	4343	genome.wustl.edu	37	chr1	113242368	113242368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	catcctcatctccaccgtgcGaagcagccagagctttgtgc	9	15	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:113242368G>A	ENST00000413052.2	+	18	3035	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	MOV10_ENST00000468624.1_3'UTR|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Missense_Mutation_p.R826Q|MOV10_ENST00000369645.1_Missense_Mutation_p.R882Q|MOV10_ENST00000357443.2_Missense_Mutation_p.R882Q	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	882					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCACCGTGCGAAGCAGCCAG	0.552																																																	0													152	158	156					1																	113242368		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2645G>A	1.37:g.113242368G>A	ENSP00000399797:p.Arg882Gln		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.R882Q	ENST00000413052.2	37	c.2645	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.797959	0.96952	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	5.1	5.1	0.69264	.	0.057790	0.64402	D	0.000001	D	0.98861	0.9615	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99761	1.1021	10	0.87932	D	0	-9.9439	18.109	0.89529	0.0:0.0:1.0:0.0	.	882	Q9HCE1	MOV10_HUMAN	Q	882;882;826;882;820	ENSP00000399797:R882Q;ENSP00000358659:R882Q;ENSP00000358658:R826Q;ENSP00000350028:R882Q	ENSP00000350028:R882Q	R	+	2	0	MOV10	113043891	1.000000	0.71417	0.980000	0.43619	0.925000	0.55904	9.866000	0.99616	2.370000	0.80446	0.467000	0.42956	CGA	MOV10	-	NULL		0.552	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	G	NM_020963		113242368	1	no_errors	ENST00000357443	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113242368	G	A	113242368	3	1	168	1	0	0	0	0	1	0	0	0	9741	1058	37	1	2711	1	MOV10	1	113242368	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1381242	113242368	136008253	29	31746										
RSBN1	54665	genome.wustl.edu	37	chr1	114308986	114308986	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acatttctagggatgaagtaGatatcattgtcgcaaagctg	10	6	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:114308986G>C	ENST00000261441.5	-	7	2088	c.2025C>G	c.(2023-2025)atC>atG	p.I675M	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	675						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATGAAGTAGATATCATTGT	0.438																																																	0													99	91	94					1																	114308986		2203	4300	6503	SO:0001583	missense	54665			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2025C>G	1.37:g.114308986G>C	ENSP00000261441:p.Ile675Met		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.I675M	ENST00000261441.5	37	c.2025	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595122	0.46318	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.56	2.67	0.31697	.	0.111985	0.64402	N	0.000012	T	0.31544	0.0800	L	0.54965	1.715	0.49582	D	0.999809	B	0.19073	0.033	B	0.21360	0.034	T	0.20240	-1.0281	9	0.54805	T	0.06	-5.3316	6.4379	0.21833	0.2084:0.1317:0.6599:0.0	.	675	Q5VWQ0	RSBN1_HUMAN	M	675	.	ENSP00000261441:I675M	I	-	3	3	RSBN1	114110509	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.941000	0.49011	0.388000	0.25054	0.563000	0.77884	ATC	RSBN1	-	NULL		0.438	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	G	NM_018364		114308986	-1	no_errors	ENST00000261441	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114308986	G	C	114308986	3	2	168	1	0	0	0	0	1	0	0	0	13726	932	33	1	387	1	RSBN1	1	114308986	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1066618	114308986	134941635	30	31747										
NRAS	4893	genome.wustl.edu	37	chr1	115256495	115256495	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggaagccttcgcctgtcctCatgtattggtctctcatggc	10	12	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:115256495C>T	ENST00000369535.4	-	3	469	c.216G>A	c.(214-216)atG>atA	p.M72I		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	72					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCCTGTCCTCATGTATTGGT	0.413		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	0													187	160	170					1																	115256495		2203	4300	6503	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.216G>A	1.37:g.115256495C>T	ENSP00000358548:p.Met72Ile		Q14971|Q15104|Q15282	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M72I	ENST00000369535.4	37	c.216	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985033	0.93044	.	.	ENSG00000213281	ENST00000369535	T	0.76186	-1.0	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	T	0.58906	0.2155	N	0.04994	-0.135	0.80722	D	1	P	0.42409	0.779	P	0.49887	0.625	T	0.70714	-0.4796	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:1.0:0.0:0.0	.	72	P01111	RASN_HUMAN	I	72	ENSP00000358548:M72I	ENSP00000358548:M72I	M	-	3	0	NRAS	115058018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.573000	0.82421	2.624000	0.88883	0.655000	0.94253	ATG	NRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.413	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	HGNC	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115256495	-1	no_errors	ENST00000369535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115256495	C	T	115256495	3	4	168	1	0	0	0	0	1	0	0	0	10664	826	29	1	365	1	NRAS	1	115256495	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	947509	115256495	133994126	31	31748										
SYCP1	6847	genome.wustl.edu	37	chr1	115398161	115398161	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggtgtctgcggtgaaacctCagaccctgggaggcgattcc	14	11	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:115398161C>G	ENST00000369522.3	+	2	316	c.76C>G	c.(76-78)Cag>Gag	p.Q26E	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q26E	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	26	Asp/Glu-rich (acidic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGAAACCTCAGACCCTGGG	0.423																																																	0													77	77	77					1																	115398161		2203	4300	6503	SO:0001583	missense	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.76C>G	1.37:g.115398161C>G	ENSP00000358535:p.Gln26Glu		O14963|Q5VXJ6	Missense_Mutation	SNP	pfam_SCP-1	p.Q26E	ENST00000369522.3	37	c.76	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231374	0.79688	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.52754	1.23;0.65;1.23	5.16	5.16	0.70880	.	0.138830	0.50627	D	0.000118	T	0.31544	0.0800	L	0.34521	1.04	0.47441	D	0.999424	P;P	0.42692	0.787;0.787	B;B	0.41236	0.351;0.351	T	0.29971	-0.9994	10	0.66056	D	0.02	-1.0436	18.2802	0.90096	0.0:1.0:0.0:0.0	.	26;26	B7ZLS9;Q15431	.;SYCP1_HUMAN	E	26	ENSP00000358535:Q26E;ENSP00000410011:Q26E;ENSP00000358531:Q26E	ENSP00000358531:Q26E	Q	+	1	0	SYCP1	115199684	1.000000	0.71417	0.989000	0.46669	0.599000	0.36880	6.008000	0.70739	2.400000	0.81607	0.561000	0.74099	CAG	SYCP1	-	NULL		0.423	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	C	NM_003176		115398161	1	no_errors	ENST00000369518	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115398161	C	G	115398161	3	3	168	1	0	0	0	0	1	0	0	0	15461	827	29	1	78	1	SYCP1	1	115398161	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	141666	115398161	133852460	32	31749										
ANKRD34A	284615	genome.wustl.edu	37	chr1	145473666	145473666	+	Missense_Mutation	SNP	C	C	T													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccgagatcacgcgggcgcctCggctcttgtccacgccctgg							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:145473666C>T	ENST00000323397.4	+	4	1631	c.338C>T	c.(337-339)tCg>tTg	p.S113L	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	113						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGGCGCCTCGGCTCTTGTC	0.711																																																	0													20	22	21					1																	145473666		2200	4297	6497	SO:0001583	missense	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.338C>T	1.37:g.145473666C>T	ENSP00000314103:p.Ser113Leu		B3KSU3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S113L	ENST00000323397.4	37	c.338	CCDS30829.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826961	0.90955	.	.	ENSG00000181039	ENST00000323397	T	0.65916	-0.18	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	L	0.41573	1.285	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.70215	-0.4933	10	0.87932	D	0	-11.0891	16.1197	0.81342	0.0:1.0:0.0:0.0	.	113	Q69YU3	AN34A_HUMAN	L	113	ENSP00000314103:S113L	ENSP00000314103:S113L	S	+	2	0	ANKRD34A	144185023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.429000	0.80309	2.658000	0.90341	0.491000	0.48974	TCG	ANKRD34A	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.711	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	C			145473666	1	no_errors	ENST00000323397	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145473666	C	T	145473666	3	4	168	1	0	0	0	0	1	0	0	0	662	893	31	1	340	1	ANKRD34A	1	145473666	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	30075505	145473666	103776955	33	31750	206	2								
ANKRD34A	284615	genome.wustl.edu	37	chr1	145473676	145473676	+	Silent	SNP	C	C	A													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcgggcgcctcggctcttgtCcacgccctggaccgcgggga							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:145473676C>A	ENST00000323397.4	+	4	1641	c.348C>A	c.(346-348)gtC>gtA	p.V116V	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	116						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCTCTTGTCCACGCCCTGG	0.706																																																	0													23	23	23					1																	145473676		2202	4297	6499	SO:0001819	synonymous_variant	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.348C>A	1.37:g.145473676C>A			B3KSU3	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V116	ENST00000323397.4	37	c.348	CCDS30829.1	1																																																																																			ANKRD34A	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.706	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	C			145473676	1	no_errors	ENST00000323397	ensembl	human	known	70_37	silent	SNP	0.996	A	A	145473676	C	A	145473676	2	1	168	1	0	0	0	0	0	0	0	1	662	842	30	3		3	ANKRD34A	1	145473676	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	10	145473676	103776945	34	31751	206	2								
DENND4B	9909	genome.wustl.edu	37	chr1	153910246	153910246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctctggtaaggcaggctcctCgggaggtgtgataaagacag	15	8	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:153910246C>T	ENST00000361217.4	-	14	2477	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	687					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGCTCCTCGGGAGGTGTG	0.567																																																	0													148	148	148					1																	153910246		1986	4173	6159	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2059G>A	1.37:g.153910246C>T	ENSP00000354597:p.Glu687Lys		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E687K	ENST00000361217.4	37	c.2059	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.514900	0.96402	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.10573	2.86;2.87	5.18	5.18	0.71444	.	0.132125	0.52532	D	0.000061	T	0.28797	0.0714	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.03017	-1.1082	10	0.72032	D	0.01	-24.0009	17.6181	0.88073	0.0:1.0:0.0:0.0	.	687	O75064	DEN4B_HUMAN	K	687;698	ENSP00000354597:E687K;ENSP00000357635:E698K	ENSP00000354597:E687K	E	-	1	0	DENND4B	152176870	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	7.439000	0.80444	2.679000	0.91253	0.655000	0.94253	GAG	DENND4B	-	NULL		0.567	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	C	XM_375806		153910246	-1	no_errors	ENST00000361217	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153910246	C	T	153910246	3	4	168	1	0	0	0	0	1	0	0	0	4444	893	31	1	2491	1	DENND4B	1	153910246	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	8436570	153910246	95340375	35	31752										
ADAM15	8751	genome.wustl.edu	37	chr1	155025221	155025221	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agccccaggtccttcaggacGatctcccaattagcctcaaa	7	15	3	0	rs372706086		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:155025221G>T	ENST00000356955.2	+	2	255	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	ADAM15_ENST00000271836.6_Missense_Mutation_p.D52Y|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Missense_Mutation_p.D52Y|ADAM15_ENST00000360674.4_Missense_Mutation_p.D52Y|ADAM15_ENST00000531455.1_Missense_Mutation_p.D62Y|ADAM15_ENST00000359280.4_Missense_Mutation_p.D52Y|ADAM15_ENST00000447332.3_Silent_p.T61T|ADAM15_ENST00000368413.1_Missense_Mutation_p.D52Y|ADAM15_ENST00000368412.3_Missense_Mutation_p.D52Y|ADAM15_ENST00000449910.2_Missense_Mutation_p.D52Y|ADAM15_ENST00000355956.2_Missense_Mutation_p.D52Y	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	52					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTTCAGGACGATCTCCCAAT	0.572											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	TYR/ASP,TYR/ASP,TYR/ASP,TYR/ASP,TYR/ASP,TYR/ASP	0,4406		0,0,2203	46	50	49		154,154,154,154,154,154	-7.4	0	1		49	1,8599		0,1,4299	no	missense,missense,missense,missense,missense,missense	ADAM15	NM_003815.3,NM_207191.1,NM_207194.1,NM_207195.1,NM_207196.1,NM_207197.1	160,160,160,160,160,160	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	52/815,52/773,52/840,52/839,52/863,52/864	155025221	1,13005	2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.154G>T	1.37:g.155025221G>T	ENSP00000349436:p.Asp52Tyr	1767	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.D52Y	ENST00000356955.2	37	c.154	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565808	0.27915	0.0	1.16E-4	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.02395	5.76;5.77;5.78;5.67;5.59;5.77;4.31;5.74;4.31;5.77	4.35	-7.38	0.01407	.	1.404130	0.05126	N	0.491522	T	0.00666	0.0022	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.15141	0.012;0.012;0.01;0.01;0.01;0.01;0.01;0.01;0.012	B;B;B;B;B;B;B;B;B	0.19391	0.023;0.015;0.014;0.007;0.009;0.009;0.009;0.016;0.025	T	0.46857	-0.9161	10	0.66056	D	0.02	.	2.1754	0.03861	0.2314:0.2715:0.3641:0.133	.	62;69;52;52;52;52;52;52;52	E9PN65;B7Z390;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;ADA15_HUMAN	Y	52;52;52;52;52;52;52;52;52;62	ENSP00000349436:D52Y;ENSP00000403843:D52Y;ENSP00000352226:D52Y;ENSP00000353892:D52Y;ENSP00000357397:D52Y;ENSP00000348227:D52Y;ENSP00000357395:D52Y;ENSP00000271836:D52Y;ENSP00000357398:D52Y;ENSP00000432927:D62Y	ENSP00000271836:D52Y	D	+	1	0	ADAM15	153291845	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.272000	0.01165	-1.809000	0.01232	-0.323000	0.08544	GAT	ADAM15	-	pfam_Peptidase_M12B_N		0.572	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	G	NM_003815		155025221	1	no_errors	ENST00000356955	ensembl	human	known	70_37	missense	SNP	0.000	T	T	155025221	G	T	155025221	3	4	168	1	0	0	0	0	1	0	0	0	237	1058	37	3	160	3	ADAM15	1	155025221	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1114975	155025221	94225400	36	31753										
SCAMP3	10067	genome.wustl.edu	37	chr1	155230178	155230178	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcccttcggtccaactcctCtgccttccggttgagctcct	7	18	1	1	rs566125652	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:155230178C>G	ENST00000302631.3	-	4	438	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	SCAMP3_ENST00000355379.3_Missense_Mutation_p.E85Q|CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	111					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCAACTCCTCTGCCTTCCGG	0.597																																																	0													94	84	87					1																	155230178		2203	4300	6503	SO:0001583	missense	10067			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"Secretory carrier membrane proteins"	10565	protein-coding gene	gene with protein product	"Propin 1"	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.331G>C	1.37:g.155230178C>G	ENSP00000307275:p.Glu111Gln		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	pfam_SCAMP	p.E111Q	ENST00000302631.3	37	c.331	CCDS1105.1	1	.	.	.	.	.	.	.	.	.	.	.	13.16	2.154091	0.38021	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.17854	2.52;2.25	4.65	4.65	0.58169	.	0.228496	0.38605	N	0.001629	T	0.06645	0.0170	N	0.25647	0.755	0.33892	D	0.637503	B;B;B	0.22346	0.006;0.057;0.068	B;B;B	0.26517	0.01;0.07;0.014	T	0.15435	-1.0437	10	0.34782	T	0.22	-6.1819	15.0884	0.72174	0.0:1.0:0.0:0.0	.	111;85;111	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	Q	111;85	ENSP00000307275:E111Q;ENSP00000347540:E85Q	ENSP00000307275:E111Q	E	-	1	0	SCAMP3	153496802	0.501000	0.26099	1.000000	0.80357	0.991000	0.79684	2.621000	0.46418	2.415000	0.81967	0.650000	0.86243	GAG	SCAMP3	-	NULL		0.597	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	C	NM_005698		155230178	-1	no_errors	ENST00000302631	ensembl	human	known	70_37	missense	SNP	0.998	G	G	155230178	C	G	155230178	3	3	168	1	0	0	0	0	1	0	0	0	13902	922	32	1	736	1	SCAMP3	1	155230178	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	204957	155230178	94020443	37	31754										
RXFP4	339403	genome.wustl.edu	37	chr1	155912316	155912316	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actctctggggtgtcctggtGaagtttgacctggtgccctg	14	10	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:155912316G>A	ENST00000368318.3	+	1	837	c.816G>A	c.(814-816)gtG>gtA	p.V272V		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTGTCCTGGTGAAGTTTGACC	0.547																																																	0													116	107	110					1																	155912316		2203	4300	6503	SO:0001819	synonymous_variant	339403			AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"GPCR / Class A : Relaxin family peptide receptors"	14666	protein-coding gene	gene with protein product		609043	"G protein-coupled receptor 100", "relaxin 3 receptor 2", "relaxin family peptide receptor 4"	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.816G>A	1.37:g.155912316G>A			B0M0L4|Q3MJB1|Q8NGZ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.V272	ENST00000368318.3	37	c.816	CCDS1124.1	1																																																																																			RXFP4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP4	HGNC	protein_coding	OTTHUMT00000046203.1	G	NM_181885		155912316	1	no_errors	ENST00000368318	ensembl	human	known	70_37	silent	SNP	1.000	A	A	155912316	G	A	155912316	2	1	168	1	0	0	0	0	0	0	0	1	13792	1277	45	1		1	RXFP4	1	155912316	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	682138	155912316	93338305	38	31755										
SEMA4A	64218	genome.wustl.edu	37	chr1	156131245	156131245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccttcaacgtcatccgccacGcggtcctgctccccgccgat	8	20	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:156131245G>A	ENST00000368285.3	+	9	1186	c.919G>A	c.(919-921)Gcg>Acg	p.A307T	SEMA4A_ENST00000368286.2_Missense_Mutation_p.A175T|SEMA4A_ENST00000368282.1_Missense_Mutation_p.A307T|SEMA4A_ENST00000355014.2_Missense_Mutation_p.A307T|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Missense_Mutation_p.A175T	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	307	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CATCCGCCACGCGGTCCTGCT	0.657																																																	0													54	49	51					1																	156131245		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.919G>A	1.37:g.156131245G>A	ENSP00000357268:p.Ala307Thr		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.A307T	ENST00000368285.3	37	c.919	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312222	0.81358	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.209218	0.41396	D	0.000888	T	0.06462	0.0166	L	0.41492	1.28	0.34356	D	0.690466	P;P	0.42584	0.784;0.784	B;B	0.38428	0.273;0.273	T	0.09079	-1.0691	10	0.66056	D	0.02	.	12.2237	0.54447	0.0828:0.0:0.9172:0.0	.	175;307	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	T	307;208;307;307;175;269;269;175;307	ENSP00000401391:A307T;ENSP00000399230:A208T;ENSP00000347117:A307T;ENSP00000357268:A307T;ENSP00000357267:A175T;ENSP00000357269:A175T;ENSP00000357265:A307T	ENSP00000347117:A307T	A	+	1	0	SEMA4A	154397869	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.309000	0.51903	2.535000	0.85469	0.455000	0.32223	GCG	SEMA4A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.657	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	G	NM_022367		156131245	1	no_errors	ENST00000355014	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156131245	G	A	156131245	3	1	168	1	0	0	0	0	1	0	0	0	14061	1087	38	2	949	2	SEMA4A	1	156131245	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	218929	156131245	93119376	39	31756										
MNDA	4332	genome.wustl.edu	37	chr1	158815707	158815707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggtcccaaacagaattatcGaaatagcaaataaaactccc	5	10	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:158815707G>A	ENST00000368141.4	+	5	1162	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	301	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAATTATCGAAATAGCAAA	0.338																																																	0													65	68	67					1																	158815707		2203	4300	6503	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.901G>A	1.37:g.158815707G>A	ENSP00000357123:p.Glu301Lys			Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.E301K	ENST00000368141.4	37	c.901	CCDS1177.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.062|0.062	-1.221054|-1.221054	0.01530|0.01530	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000368141|ENST00000438394	T|.	0.12984|.	2.63|.	4.28|4.28	0.102|0.102	0.14522|0.14522	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);|.	1.437920|.	0.04762|.	N|.	0.426445|.	T|T	0.01661|0.01661	0.0053|0.0053	N|N	0.00446|0.00446	-1.495|-1.495	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.46527|0.46527	-0.9185|-0.9185	10|5	0.06625|.	T|.	0.88|.	-1.0938|-1.0938	4.8617|4.8617	0.13587|0.13587	0.5252:0.371:0.1037:0.0|0.5252:0.371:0.1037:0.0	.|.	301|.	P41218|.	MNDA_HUMAN|.	K|Q	301|6	ENSP00000357123:E301K|.	ENSP00000357123:E301K|.	E|R	+|+	1|2	0|0	MNDA|MNDA	157082331|157082331	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.566000|-0.566000	0.05922|0.05922	-0.044000|-0.044000	0.13491|0.13491	-0.290000|-0.290000	0.09829|0.09829	GAA|CGA	MNDA	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x		0.338	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	G	NM_002432		158815707	1	no_errors	ENST00000368141	ensembl	human	known	70_37	missense	SNP	0.000	A	A	158815707	G	A	158815707	3	1	168	1	0	0	0	0	1	0	0	0	9699	1059	37	1	915	1	MNDA	1	158815707	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2684462	158815707	90434914	40	31757										
KCNJ9	3765	genome.wustl.edu	37	chr1	160053898	160053898	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggccgccagcgctacgtggaGaaggatggccggtgcaacgt	17	11	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:160053898G>A	ENST00000368088.3	+	2	320	c.78G>A	c.(76-78)gaG>gaA	p.E26E		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	26					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTACGTGGAGAAGGATGGCC	0.721																																																	0													38	26	30					1																	160053898		2170	4251	6421	SO:0001819	synonymous_variant	3765			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.78G>A	1.37:g.160053898G>A			Q5JW75	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3	p.E26	ENST00000368088.3	37	c.78	CCDS1194.1	1																																																																																			KCNJ9	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir		0.721	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	HGNC	protein_coding	OTTHUMT00000060628.1	G	NM_004983		160053898	1	no_errors	ENST00000368088	ensembl	human	known	70_37	silent	SNP	1.000	A	A	160053898	G	A	160053898	2	1	168	1	0	0	0	0	0	0	0	1	8077	933	33	1		1	KCNJ9	1	160053898	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1238191	160053898	89196723	41	31758										
ADCY10	55811	genome.wustl.edu	37	chr1	167825573	167825573	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggacacagggacataatgatGaagataggaagagtccggat	14	5	0	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:167825573G>A	ENST00000367851.4	-	17	2185	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	ADCY10_ENST00000367848.1_Silent_p.F575F|ADCY10_ENST00000545172.1_Silent_p.F514F	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	667					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACATAATGATGAAGATAGGAA	0.448																																																	0													197	189	192					1																	167825573		2203	4300	6503	SO:0001819	synonymous_variant	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2001C>T	1.37:g.167825573G>A			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.F667	ENST00000367851.4	37	c.2001	CCDS1265.1	1																																																																																			ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.448	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167825573	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	silent	SNP	0.991	A	A	167825573	G	A	167825573	2	1	168	1	0	0	0	0	0	0	0	1	293	1281	45	1		1	ADCY10	1	167825573	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7771675	167825573	81425048	42	31759										
MYOC	4653	genome.wustl.edu	37	chr1	171621374	171621374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtttccagctggtcccgctcCcgcctcagggtgcccagctc	11	18	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:171621374C>T	ENST00000037502.6	-	1	449	c.378G>A	c.(376-378)cgG>cgA	p.R126R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	126			R -> W (in GLC1A; dbSNP:rs200120115). {ECO:0000269|PubMed:12189160}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGTCCCGCTCCCGCCTCAGGG	0.617																																																	0													64	71	69					1																	171621374		2203	4300	6503	SO:0001819	synonymous_variant	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.378G>A	1.37:g.171621374C>T			B2RD84|O00620|Q7Z6Q9	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.R126	ENST00000037502.6	37	c.378	CCDS1297.1	1																																																																																			MYOC	-	NULL		0.617	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		171621374	-1	no_errors	ENST00000037502	ensembl	human	known	70_37	silent	SNP	0.012	T	T	171621374	C	T	171621374	2	4	168	1	0	0	0	0	0	0	0	1	10109	610	22	4		4	MYOC	1	171621374	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3795801	171621374	77629247	43	31760										
HMCN1	83872	genome.wustl.edu	37	chr1	186017887	186017887	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gttttcagattgaagatgctCaggttcaagacactggtcgt	11	7	3	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:186017887C>T	ENST00000271588.4	+	42	6722	c.6493C>T	c.(6493-6495)Cag>Tag	p.Q2165*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q2165*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2165	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGATGCTCAGGTTCAAGA	0.323																																																	0													97	99	98					1																	186017887		2203	4300	6503	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6493C>T	1.37:g.186017887C>T	ENSP00000271588:p.Gln2165*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.Q2165*	ENST00000271588.4	37	c.6493	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	49	15.503004	0.99836	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	18.8405	0.92182	0.0:1.0:0.0:0.0	.	.	.	.	X	2165	.	ENSP00000271588:Q2165X	Q	+	1	0	HMCN1	184284510	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.445000	0.80570	2.503000	0.84419	0.557000	0.71058	CAG	HMCN1	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.323	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		186017887	1	no_errors	ENST00000271588	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	186017887	C	T	186017887	4	4	168	1	0	0	0	0	0	1	0	0	7240	827	29	1	6659	1	HMCN1	1	186017887	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	14396513	186017887	63232734	44	31761										
CFH	3075	genome.wustl.edu	37	chr1	196711179	196711179	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gacaggaaggccaacatgcaGaggtactttggtgaattttc	12	7	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:196711179G>C	ENST00000367429.4	+	19	3371	c.3131G>C	c.(3130-3132)aGa>aCa	p.R1044T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1044	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCAACATGCAGAGGTACTTTG	0.463																																																	0													82	75	77					1																	196711179		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3131G>C	1.37:g.196711179G>C	ENSP00000356399:p.Arg1044Thr		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R1044T	ENST00000367429.4	37	c.3131	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	19.36	3.812055	0.70797	.	.	ENSG00000000971	ENST00000367429	T	0.73469	-0.75	5.86	-3.73	0.04398	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.54111	0.1838	L	0.38733	1.17	0.80722	D	1	B	0.26483	0.15	B	0.14578	0.011	T	0.27606	-1.0069	9	0.22706	T	0.39	.	6.0506	0.19783	0.5921:0.2409:0.167:0.0	.	1044	P08603	CFAH_HUMAN	T	1044	ENSP00000356399:R1044T	ENSP00000356399:R1044T	R	+	2	0	CFH	194977802	0.698000	0.27777	0.974000	0.42286	0.806000	0.45545	-0.430000	0.06973	-0.334000	0.08463	0.650000	0.86243	AGA	CFH	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.463	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196711179	1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.979	C	C	196711179	G	C	196711179	3	2	168	1	0	0	0	0	1	0	0	0	3288	942	33	1	3223	1	CFH	1	196711179	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	10693292	196711179	52539442	45	31762										
IGFN1	91156	genome.wustl.edu	37	chr1	201181630	201181630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcaagggggcagtggaaggtGagacctgggcaggaatggct	20	6	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:201181630G>A	ENST00000335211.4	+	12	7739	c.7609G>A	c.(7609-7611)Gag>Aag	p.E2537K	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTGGAAGGTGAGACCTGGGC	0.577																																																	0													25	29	28					1																	201181630		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7609G>A	1.37:g.201181630G>A	ENSP00000334714:p.Glu2537Lys		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E2537K	ENST00000335211.4	37	c.7609	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.576399	0.28092	.	.	ENSG00000163395	ENST00000335211	T	0.51817	0.69	3.09	2.05	0.26809	.	.	.	.	.	T	0.24198	0.0586	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.17167	-1.0378	6	.	.	.	.	6.0668	0.19868	0.0:0.1668:0.5464:0.2868	.	.	.	.	K	2537	ENSP00000334714:E2537K	.	E	+	1	0	IGFN1	199448253	0.001000	0.12720	0.010000	0.14722	0.108000	0.19459	0.784000	0.26816	1.411000	0.46957	0.306000	0.20318	GAG	IGFN1	-	NULL		0.577	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201181630	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.000	A	A	201181630	G	A	201181630	3	1	168	1	0	0	0	0	1	0	0	0	7610	1291	45	1	7651	1	IGFN1	1	201181630	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	4470451	201181630	48068991	46	31763										
IGFN1	91156	genome.wustl.edu	37	chr1	201182516	201182516	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgaggttggaggaggaaagaGaaggggagcagacgaggctg	21	3	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:201182516G>A	ENST00000335211.4	+	12	8625	c.8495G>A	c.(8494-8496)aGa>aAa	p.R2832K	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGGAAAGAGAAGGGGAGCA	0.632																																																	0													41	35	37					1																	201182516		2203	4300	6503	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8495G>A	1.37:g.201182516G>A	ENSP00000334714:p.Arg2832Lys		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R2832K	ENST00000335211.4	37	c.8495	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549535	0.65311	.	.	ENSG00000163395	ENST00000335211	T	0.66460	-0.21	3.33	3.33	0.38152	.	.	.	.	.	T	0.55909	0.1950	N	0.22421	0.69	0.80722	D	1	.	.	.	.	.	.	T	0.48468	-0.9033	7	0.17369	T	0.5	.	12.4235	0.55534	0.0:0.0:1.0:0.0	.	.	.	.	K	2832	ENSP00000334714:R2832K	ENSP00000334714:R2832K	R	+	2	0	IGFN1	199449139	0.266000	0.24112	0.025000	0.17156	0.025000	0.11179	2.098000	0.41757	1.397000	0.46682	0.491000	0.48974	AGA	IGFN1	-	NULL		0.632	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201182516	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.026	A	A	201182516	G	A	201182516	3	1	168	1	0	0	0	0	1	0	0	0	7610	942	33	1	8537	1	IGFN1	1	201182516	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	886	201182516	48068105	47	31764										
PIK3C2B	5287	genome.wustl.edu	37	chr1	204403022	204403022	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaagcggctggaaggcttgtCacccccgttgatgacatacg	13	11	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:204403022C>T	ENST00000367187.3	-	26	4298	c.3742G>A	c.(3742-3744)Gac>Aac	p.D1248N	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.D1220N|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1248	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAAGGCTTGTCACCCCCGTTG	0.552																																																	0													115	100	105					1																	204403022		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3742G>A	1.37:g.204403022C>T	ENSP00000356155:p.Asp1248Asn		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.D1248N	ENST00000367187.3	37	c.3742	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.890454	0.97074	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.81078	-1.45;-1.45	6.03	6.03	0.97812	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.43919	U	0.000514	D	0.87466	0.6184	L	0.49640	1.575	0.58432	D	0.999996	D;D	0.64830	0.99;0.994	D;D	0.66716	0.923;0.946	D	0.86078	0.1542	10	0.49607	T	0.09	.	20.1519	0.98089	0.0:1.0:0.0:0.0	.	1220;1248	F5GWN5;O00750	.;P3C2B_HUMAN	N	1248;26;1220	ENSP00000356155:D1248N;ENSP00000400561:D1220N	ENSP00000356155:D1248N	D	-	1	0	PIK3C2B	202669645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.731000	0.84895	2.861000	0.98227	0.655000	0.94253	GAC	PIK3C2B	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	C	NM_002646		204403022	-1	no_errors	ENST00000367187	ensembl	human	known	70_37	missense	SNP	1.000	T	T	204403022	C	T	204403022	3	4	168	1	0	0	0	0	1	0	0	0	11934	826	29	1	1198	1	PIK3C2B	1	204403022	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3220506	204403022	44847599	48	31765										
NFASC	23114	genome.wustl.edu	37	chr1	204939816	204939816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggatgggagactggtgtgtcGagccaatggaaaccccaaac	14	9	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:204939816G>A	ENST00000401399.1	+	10	1275	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	NFASC_ENST00000404907.1_Missense_Mutation_p.R370Q|NFASC_ENST00000367172.4_Missense_Mutation_p.R359Q|NFASC_ENST00000403080.1_Missense_Mutation_p.R359Q|NFASC_ENST00000339876.6_Missense_Mutation_p.R359Q|NFASC_ENST00000367170.4_Missense_Mutation_p.R359Q|NFASC_ENST00000513543.1_Missense_Mutation_p.R370Q|NFASC_ENST00000367169.4_Missense_Mutation_p.R359Q|NFASC_ENST00000539706.1_Missense_Mutation_p.R370Q|NFASC_ENST00000360049.4_Missense_Mutation_p.R370Q|NFASC_ENST00000367171.4_Missense_Mutation_p.R359Q|NFASC_ENST00000338515.6_Missense_Mutation_p.R359Q|NFASC_ENST00000338586.6_Missense_Mutation_p.R359Q|NFASC_ENST00000404076.1_Missense_Mutation_p.R353Q			O94856	NFASC_HUMAN	neurofascin	359	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTGGTGTGTCGAGCCAATGGA	0.542																																																	0													120	96	104					1																	204939816		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1076G>A	1.37:g.204939816G>A	ENSP00000385637:p.Arg359Gln		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R359Q	ENST00000401399.1	37	c.1076	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.088384|4.088384	0.76756|0.76756	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.66280	.|-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.44285	.|D	.|0.000463	T|T	0.51126|0.51126	0.1656|0.1656	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	.|D;B;P;P;B;B;P	.|0.53312	.|0.959;0.3;0.881;0.515;0.241;0.179;0.619	.|B;B;B;B;B;B;B	.|0.35655	.|0.126;0.012;0.207;0.01;0.008;0.005;0.056	T|T	0.53968|0.53968	-0.8363|-0.8363	5|10	.|0.30854	.|T	.|0.27	.|.	13.5957|13.5957	0.61988|0.61988	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	.|370;370;455;359;359;370;359	.|O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.;.	K|Q	329|359;359;359;359;359;359;370;370;370;359;359;353;359;370;370;346	.|ENSP00000356140:R359Q;ENSP00000356139:R359Q;ENSP00000356138:R359Q;ENSP00000342128:R359Q;ENSP00000344786:R359Q;ENSP00000343509:R359Q;ENSP00000438614:R370Q;ENSP00000353154:R370Q;ENSP00000356137:R359Q;ENSP00000384875:R359Q;ENSP00000385676:R353Q;ENSP00000385637:R359Q;ENSP00000384061:R370Q;ENSP00000425908:R370Q;ENSP00000415031:R346Q	.|ENSP00000295776:R370Q	E|R	+|+	1|2	0|0	NFASC|NFASC	203206439|203206439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.545000|5.545000	0.67237|0.67237	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GAG|CGA	NFASC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.542	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	G	NM_001005388		204939816	1	no_errors	ENST00000367172	ensembl	human	known	70_37	missense	SNP	1.000	A	A	204939816	G	A	204939816	3	1	168	1	0	0	0	0	1	0	0	0	10383	1058	37	1	1165	1	NFASC	1	204939816	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	536794	204939816	44310805	49	31766										
IL20	50604	genome.wustl.edu	37	chr1	207039221	207039221	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaagcctctagtcttgccttCagccttctctctgctgcgtt	7	14	5	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:207039221C>T	ENST00000367098.1	+	2	387	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IL20_ENST00000391930.2_Silent_p.F8F|IL20_ENST00000367096.3_Silent_p.F8F			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GTCTTGCCTTCAGCCTTCTCT	0.478																																																	0													150	137	141					1																	207039221		2203	4300	6503	SO:0001819	synonymous_variant	50604			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"Interleukins and interleukin receptors"	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.24C>T	1.37:g.207039221C>T			Q14CE5	Silent	SNP	pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24,prints_Interleukin-20,prints_Interleukin-24	p.F8	ENST00000367098.1	37	c.24	CCDS1470.1	1																																																																																			IL20	-	prints_Interleukin-20		0.478	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20	HGNC	protein_coding	OTTHUMT00000088676.1	C	NM_018724		207039221	1	no_errors	ENST00000367096	ensembl	human	known	70_37	silent	SNP	0.001	T	T	207039221	C	T	207039221	2	4	168	1	0	0	0	0	0	0	0	1	7687	825	29	1		1	IL20	1	207039221	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2099405	207039221	42211400	50	31767										
NENF	29937	genome.wustl.edu	37	chr1	212619333	212619333	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaccagccccattttgacatCaaggatgagttctgatgttc	9	10	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:212619333C>T	ENST00000366988.3	+	4	561	c.504C>T	c.(502-504)atC>atT	p.I168I	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	168					positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		ATTTTGACATCAAGGATGAGT	0.542																																																	0													94	85	88					1																	212619333		2203	4300	6503	SO:0001819	synonymous_variant	29937				CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"neudesin"	611874	"neuron derived neurotrophic factor"			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.504C>T	1.37:g.212619333C>T			A1KYQ8|Q53FZ6|Q5TM90	Silent	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.I168	ENST00000366988.3	37	c.504	CCDS1505.1	1																																																																																			NENF	-	NULL		0.542	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NENF	HGNC	protein_coding	OTTHUMT00000089291.1	C	NM_013349		212619333	1	no_errors	ENST00000366988	ensembl	human	known	70_37	silent	SNP	0.994	T	T	212619333	C	T	212619333	2	4	168	1	0	0	0	0	0	0	0	1	10359	816	29	1		1	NENF	1	212619333	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	5580112	212619333	36631288	51	31768										
CENPF	1063	genome.wustl.edu	37	chr1	214818772	214818772	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtctgccttgaagaagaactCtcagtggtcacaagtgagag	12	8	3	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:214818772C>G	ENST00000366955.3	+	13	6027	c.5859C>G	c.(5857-5859)ctC>ctG	p.L1953L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2049					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.L1953L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAAGAACTCTCAGTGGTCA	0.398																																					Colon(80;575 1284 11000 14801 43496)												1	Substitution - coding silent(1)	lung(1)											66	70	69					1																	214818772		2203	4300	6503	SO:0001819	synonymous_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5859C>G	1.37:g.214818772C>G			Q13171|Q13246|Q5VVM7	Silent	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.L1953	ENST00000366955.3	37	c.5859	CCDS31023.1	1																																																																																			CENPF	-	NULL		0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214818772	1	no_errors	ENST00000366955	ensembl	human	known	70_37	silent	SNP	0.150	G	G	214818772	C	G	214818772	2	3	168	1	0	0	0	0	0	0	0	1	3236	900	32	1		1	CENPF	1	214818772	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2199439	214818772	34431849	52	31769										
USH2A	7399	genome.wustl.edu	37	chr1	216380627	216380627	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaactcactgtatgggtattGatcctctgttgtgtagattt	9	6	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:216380627G>A	ENST00000307340.3	-	16	3690	c.3304C>T	c.(3304-3306)Caa>Taa	p.Q1102*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.Q1102*|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q1102*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1102	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATGGGTATTGATCCTCTGTT	0.378										HNSCC(13;0.011)																																							0													90	88	89					1																	216380627		2203	4300	6503	SO:0001587	stop_gained	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3304C>T	1.37:g.216380627G>A	ENSP00000305941:p.Gln1102*		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q1102*	ENST00000307340.3	37	c.3304	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.797912	0.99469	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.86	3.79	0.43588	.	0.805539	0.10421	N	0.676696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	2.9365	0.05816	0.1398:0.1229:0.4873:0.25	.	.	.	.	X	1102	.	ENSP00000305941:Q1102X	Q	-	1	0	USH2A	214447250	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.067000	0.41461	1.456000	0.47831	0.655000	0.94253	CAA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		216380627	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	nonsense	SNP	0.897	A	A	216380627	G	A	216380627	4	1	168	1	0	0	0	0	0	1	0	0	17067	1299	45	1	12546	1	USH2A	1	216380627	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1561855	216380627	32869994	53	31770										
CNIH4	29097	genome.wustl.edu	37	chr1	224563512	224563512	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cacagtatgatcttagctttGataaatgactgaagctggag	10	6	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:224563512G>C	ENST00000465271.1	+	5	483	c.408G>C	c.(406-408)ttG>ttC	p.L136F	CNIH4_ENST00000366858.3_Intron|CNIH4_ENST00000366856.3_Intron|CNIH4_ENST00000366857.5_Missense_Mutation_p.L89F|CNIH4_ENST00000468318.1_3'UTR	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	136					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		TCTTAGCTTTGATAAATGACT	0.438																																																	0													107	93	98					1																	224563512		2203	4300	6503	SO:0001583	missense	29097				CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"cornichon homolog 4 (Drosophila)"			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.408G>C	1.37:g.224563512G>C	ENSP00000420443:p.Leu136Phe		A8K1Q8|B2R553|Q9H0X8	Missense_Mutation	SNP	pfam_Cornichon	p.L136F	ENST00000465271.1	37	c.408	CCDS1543.1	1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839958	0.71488	.	.	ENSG00000143771	ENST00000465271;ENST00000366857	T;T	0.58797	0.31;0.7	5.43	4.52	0.55395	.	0.000000	0.64402	D	0.000001	T	0.77552	0.4147	M	0.88512	2.96	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.80614	-0.1304	10	0.87932	D	0	-33.6714	10.1591	0.42840	0.1511:0.0:0.8489:0.0	.	136	Q9P003	CNIH4_HUMAN	F	136;89	ENSP00000420443:L136F;ENSP00000355822:L89F	ENSP00000355822:L89F	L	+	3	2	CNIH4	222630135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.942000	0.49018	1.287000	0.44583	0.557000	0.71058	TTG	CNIH4	-	NULL		0.438	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH4	HGNC	protein_coding	OTTHUMT00000091754.1	G	NM_014184		224563512	1	no_errors	ENST00000465271	ensembl	human	known	70_37	missense	SNP	1.000	C	C	224563512	G	C	224563512	3	2	168	1	0	0	0	0	1	0	0	0	3610	1281	45	1	426	1	CNIH4	1	224563512	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	8182885	224563512	24687109	54	31771										
NID1	4811	genome.wustl.edu	37	chr1	236212096	236212096	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aagagatctccgggaaccctCtgtggacacactctgctgct	10	13	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:236212096C>A	ENST00000264187.6	-	2	501	c.419G>T	c.(418-420)aGa>aTa	p.R140I	NID1_ENST00000366595.3_Missense_Mutation_p.R140I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	140	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CGGGAACCCTCTGTGGACACA	0.582																																																	0													58	61	60					1																	236212096		2203	4300	6503	SO:0001583	missense	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.419G>T	1.37:g.236212096C>A	ENSP00000264187:p.Arg140Ile		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R140I	ENST00000264187.6	37	c.419	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760970	0.89932	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.24350	1.86;1.86	4.81	3.87	0.44632	Nidogen, extracellular domain (2);	0.204116	0.49916	D	0.000129	T	0.37293	0.0998	L	0.52364	1.645	0.51233	D	0.999919	D;D	0.63046	0.98;0.992	P;P	0.56700	0.804;0.794	T	0.11203	-1.0597	10	0.52906	T	0.07	.	13.5891	0.61948	0.0:0.9232:0.0:0.0768	.	140;140	P14543-2;P14543	.;NID1_HUMAN	I	140	ENSP00000264187:R140I;ENSP00000355554:R140I	ENSP00000264187:R140I	R	-	2	0	NID1	234278719	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.884000	0.48562	2.495000	0.84180	0.655000	0.94253	AGA	NID1	-	smart_Nidogen_extracell_dom		0.582	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	C	NM_002508		236212096	-1	no_errors	ENST00000264187	ensembl	human	known	70_37	missense	SNP	1.000	A	A	236212096	C	A	236212096	3	1	168	1	0	0	0	0	1	0	0	0	10438	913	32	3	3400	3	NID1	1	236212096	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	11648584	236212096	13038525	55	31772										
RGS7	6000	genome.wustl.edu	37	chr1	241099999	241099999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	attaatgttcccaaatggagCgcctccactgttttatgaaa	7	9	0	1	rs374423156		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:241099999C>T	ENST00000407727.1	-	4	233	c.234G>A	c.(232-234)gcG>gcA	p.A78A	RGS7_ENST00000366563.1_Silent_p.A78A|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366565.1_Silent_p.A78A|RGS7_ENST00000366564.1_Silent_p.A78A|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Silent_p.A78A|RGS7_ENST00000331110.7_Silent_p.A52A			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	78	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCAAATGGAGCGCCTCCACTG	0.393													C|||	1	0.000199681	8e-04	0	5008	,	,		16912	0		0	False		,,,				2504	0																0								C		0,4406		0,0,2203	71	77	75		234	-9.6	0.6	1		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RGS7	NM_002924.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		78/488	241099999	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.234G>A	1.37:g.241099999C>T			Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.A78	ENST00000407727.1	37	c.234		1																																																																																			RGS7	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.393	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		C	NM_002924		241099999	-1	no_errors	ENST00000407727	ensembl	human	known	70_37	silent	SNP	0.310	T	T	241099999	C	T	241099999	2	4	168	1	0	0	0	0	0	0	0	1	13340	755	27	2		2	RGS7	1	241099999	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	4887903	241099999	8150622	56	31773										
ZNF496	84838	genome.wustl.edu	37	chr1	247492661	247492661	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgctccttggtgtgcctctCaggccgcagccagcccccgc	11	19	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr1:247492661C>T	ENST00000294753.4	-	3	684	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ZNF496_ENST00000366498.2_Missense_Mutation_p.E74K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GTGTGCCTCTCAGGCCGCAGC	0.711																																																	0													21	26	24					1																	247492661		2203	4299	6502	SO:0001583	missense	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.220G>A	1.37:g.247492661C>T	ENSP00000294753:p.Glu74Lys		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E74K	ENST00000294753.4	37	c.220	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829497	0.71258	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07216	3.21;3.21	4.27	3.32	0.38043	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.608349	0.14551	N	0.312657	T	0.31638	0.0803	M	0.88512	2.96	0.18873	N	0.999984	D;D	0.76494	0.996;0.999	D;D	0.76071	0.987;0.978	T	0.07177	-1.0786	9	.	.	.	-19.4239	9.3031	0.37858	0.2144:0.7856:0.0:0.0	.	74;74	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	K	74	ENSP00000294753:E74K;ENSP00000355454:E74K	.	E	-	1	0	ZNF496	245559284	0.896000	0.30565	0.029000	0.17559	0.978000	0.69477	2.835000	0.48175	1.089000	0.41292	0.561000	0.74099	GAG	ZNF496	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.711	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	C	NM_032752		247492661	-1	no_errors	ENST00000366498	ensembl	human	known	70_37	missense	SNP	0.268	T	T	247492661	C	T	247492661	3	4	168	1	0	0	0	0	1	0	0	0	17975	835	29	1	1571	1	ZNF496	1	247492661	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6392662	247492661	1757960	57	31774										
ASXL2	55252	genome.wustl.edu	37	chr2	25965752	25965752	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggcttcagtggggctgcttaGacaaaaacgatcttcagggt	13	8	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:25965752G>C	ENST00000435504.4	-	13	3747	c.3454C>G	c.(3454-3456)Cta>Gta	p.L1152V	ASXL2_ENST00000336112.4_Missense_Mutation_p.L1124V|ASXL2_ENST00000404843.1_Missense_Mutation_p.L635V|ASXL2_ENST00000272341.4_Missense_Mutation_p.L635V			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1152					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTGCTTAGACAAAAACGA	0.463																																																	0													97	96	97					2																	25965752		1891	4128	6019	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3454C>G	2.37:g.25965752G>C	ENSP00000391447:p.Leu1152Val		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.L1152V	ENST00000435504.4	37	c.3454		2	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216373	0.58452	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.21543	2.04;2.04;2.0;2.0	6.02	4.2	0.49525	.	0.000000	0.64402	D	0.000008	T	0.40570	0.1122	M	0.71581	2.175	0.22796	N	0.998726	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.20273	-1.0280	10	0.23891	T	0.37	-14.133	10.7043	0.45946	0.0695:0.0:0.7999:0.1306	.	635;1152	Q76L83-2;Q76L83	.;ASXL2_HUMAN	V	1152;1124;635;635	ENSP00000391447:L1152V;ENSP00000337250:L1124V;ENSP00000383920:L635V;ENSP00000272341:L635V	ENSP00000272341:L635V	L	-	1	2	ASXL2	25819256	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.597000	0.46214	1.548000	0.49413	0.655000	0.94253	CTA	ASXL2	-	NULL		0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	G	NM_018263		25965752	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25965752	G	C	25965752	3	2	168	1	0	0	0	0	1	0	0	0	1068	933	33	1	857	1	ASXL2	2	25965752	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		25965752	217233621	58	31775										
ASXL2	55252	genome.wustl.edu	37	chr2	25966681	25966681	+	Missense_Mutation	SNP	G	G	A													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aatgaacaggtgaggcacctGagattagagcaggacctgtt							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:25966681G>A	ENST00000435504.4	-	13	2818	c.2525C>T	c.(2524-2526)tCa>tTa	p.S842L	ASXL2_ENST00000336112.4_Missense_Mutation_p.S814L|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	842					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGCACCTGAGATTAGAGC	0.512																																																	0													164	164	164					2																	25966681		2046	4184	6230	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2525C>T	2.37:g.25966681G>A	ENSP00000391447:p.Ser842Leu		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S842L	ENST00000435504.4	37	c.2525		2	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755181	0.49362	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.22539	1.95;1.95	5.47	4.59	0.56863	.	0.804139	0.11332	N	0.574960	T	0.22666	0.0547	L	0.59436	1.845	0.80722	D	1	B	0.28760	0.221	B	0.22386	0.039	T	0.03534	-1.1027	10	0.87932	D	0	-0.2059	9.6274	0.39759	0.0789:0.1424:0.7787:0.0	.	842	Q76L83	ASXL2_HUMAN	L	842;814	ENSP00000391447:S842L;ENSP00000337250:S814L	ENSP00000337250:S814L	S	-	2	0	ASXL2	25820185	1.000000	0.71417	0.879000	0.34478	0.993000	0.82548	2.660000	0.46749	1.308000	0.44962	0.563000	0.77884	TCA	ASXL2	-	NULL		0.512	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	G	NM_018263		25966681	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	missense	SNP	0.995	A	A	25966681	G	A	25966681	3	1	168	1	0	0	0	0	1	0	0	0	1068	1294	45	1	1786	1	ASXL2	2	25966681	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	929	25966681	217232692	59	31776	207	2								
ASXL2	55252	genome.wustl.edu	37	chr2	25966688	25966688	+	Silent	SNP	G	G	A													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggtgaggcacctgagattaGagcaggacctgttggagaag							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:25966688G>A	ENST00000435504.4	-	13	2811	c.2518C>T	c.(2518-2520)Cta>Tta	p.L840L	ASXL2_ENST00000336112.4_Silent_p.L812L|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	840					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGATTAGAGCAGGACCT	0.522																																																	0													170	169	170					2																	25966688		2040	4185	6225	SO:0001819	synonymous_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2518C>T	2.37:g.25966688G>A			Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	superfamily_Znf_FYVE_PHD	p.L840	ENST00000435504.4	37	c.2518		2																																																																																			ASXL2	-	NULL		0.522	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	G	NM_018263		25966688	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	silent	SNP	0.831	A	A	25966688	G	A	25966688	2	1	168	1	0	0	0	0	0	0	0	1	1068	933	33	1		1	ASXL2	2	25966688	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7	25966688	217232685	60	31777	207	2								
CAD	790	genome.wustl.edu	37	chr2	27459176	27459176	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagctgtggactggcactttGaggaggctgtggatggtgag	18	6	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:27459176G>C	ENST00000403525.1	+	25	4054	c.3910G>C	c.(3910-3912)Gag>Cag	p.E1304Q	CAD_ENST00000264705.4_Missense_Mutation_p.E1367Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			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)					CTGGCACTTTGAGGAGGCTGT	0.572																																																	0													54	52	53					2																	27459176		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3910G>C	2.37:g.27459176G>C	ENSP00000384510:p.Glu1304Gln		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.E1367Q	ENST00000403525.1	37	c.4099		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.982320|4.982320	0.93044|0.93044	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	D;D|.	0.86865|.	-2.18;-2.18|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Methylglyoxal synthase-like domain (4);|.	0.044847|.	0.85682|.	D|.	0.000000|.	T|T	0.66645|0.66645	0.2810|0.2810	L|L	0.43757|0.43757	1.38|1.38	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.99;0.992|.	P;D|.	0.63283|.	0.843;0.913|.	T|T	0.63319|0.63319	-0.6664|-0.6664	10|5	0.23302|.	T|.	0.38|.	-0.4106|-0.4106	17.2725|17.2725	0.87106|0.87106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1304;1367|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	Q|F	1367;1304|11	ENSP00000264705:E1367Q;ENSP00000384510:E1304Q|.	ENSP00000264705:E1367Q|.	E|L	+|+	1|3	0|2	CAD|CAD	27312680|27312680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.927000|8.927000	0.92846|0.92846	2.483000|2.483000	0.83821|0.83821	0.561000|0.561000	0.74099|0.74099	GAG|TTG	CAD	-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	G			27459176	1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27459176	G	C	27459176	3	2	168	1	0	0	0	0	1	0	0	0	2570	1291	45	1	4201	1	CAD	2	27459176	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1492488	27459176	215740197	61	31778										
NRBP1	29959	genome.wustl.edu	37	chr2	27656621	27656621	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtgtagaggttgtgtggaatGaggtacagttctctgaacgc	15	5	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:27656621G>C	ENST00000233557.3	+	4	1124	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	NRBP1_ENST00000379852.3_Missense_Mutation_p.E98Q|NRBP1_ENST00000379863.3_Missense_Mutation_p.E98Q			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGTGTGGAATGAGGTACAGTT	0.463																																																	0													120	116	118					2																	27656621		2203	4300	6503	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.292G>C	2.37:g.27656621G>C	ENSP00000233557:p.Glu98Gln		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E98Q	ENST00000233557.3	37	c.292	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899998	0.92035	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863;ENST00000419281	T;T;T	0.73681	-0.77;-0.77;-0.77	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	L	0.38175	1.15	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.966;0.987	T	0.76857	-0.2804	10	0.26408	T	0.33	-14.2957	17.4069	0.87476	0.0:0.0:1.0:0.0	.	98;98	F8W6G1;Q9UHY1	.;NRBP_HUMAN	Q	98;78;98;98;98	ENSP00000233557:E98Q;ENSP00000369181:E98Q;ENSP00000369192:E98Q	ENSP00000233557:E98Q	E	+	1	0	NRBP1	27510125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.352000	0.97076	2.458000	0.83093	0.561000	0.74099	GAG	NRBP1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.463	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	G	NM_013392		27656621	1	no_errors	ENST00000233557	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27656621	G	C	27656621	3	2	168	1	0	0	0	0	1	0	0	0	10666	1291	45	1	298	1	NRBP1	2	27656621	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	197445	27656621	215542752	62	31779										
PPP1CB	5500	genome.wustl.edu	37	chr2	29001749	29001749	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcccaccagaagccaactatCttttcttaggagattatgtg	7	10	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:29001749C>G	ENST00000395366.2	+	3	531	c.259C>G	c.(259-261)Ctt>Gtt	p.L87V	PPP1CB_ENST00000358506.2_Missense_Mutation_p.L87V|PPP1CB_ENST00000296122.6_Missense_Mutation_p.L87V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	87					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGCCAACTATCTTTTCTTAGG	0.343																																																	0													102	105	104					2																	29001749		2203	4300	6503	SO:0001583	missense	5500				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9282	protein-coding gene	gene with protein product		600590	"protein phosphatase 1, catalytic subunit, beta isoform"			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.259C>G	2.37:g.29001749C>G	ENSP00000378769:p.Leu87Val		B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L87V	ENST00000395366.2	37	c.259	CCDS33169.1	2	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773071	0.69992	.	.	ENSG00000213639	ENST00000455580;ENST00000420282;ENST00000441461;ENST00000358506;ENST00000296122;ENST00000395366	D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.72	5.72	0.89469	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.057937	0.64402	D	0.000001	D	0.94205	0.8140	M	0.77103	2.36	0.80722	D	1	P;B	0.38551	0.636;0.335	P;B	0.45119	0.47;0.228	D	0.94061	0.7326	10	0.72032	D	0.01	-14.1378	20.2406	0.98372	0.0:1.0:0.0:0.0	.	59;87	B4E163;P62140	.;PP1B_HUMAN	V	59;87;87;87;87;87	ENSP00000390715:L59V;ENSP00000398839:L87V;ENSP00000414918:L87V;ENSP00000351298:L87V;ENSP00000296122:L87V;ENSP00000378769:L87V	ENSP00000296122:L87V	L	+	1	0	PPP1CB	28855253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.729000	0.84864	2.857000	0.98124	0.650000	0.86243	CTT	PPP1CB	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.343	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CB	HGNC	protein_coding	OTTHUMT00000324841.1	C			29001749	1	no_errors	ENST00000296122	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29001749	C	G	29001749	3	3	168	1	0	0	0	0	1	0	0	0	12377	913	32	1	269	1	PPP1CB	2	29001749	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1345128	29001749	214197624	63	31780										
DHX57	90957	genome.wustl.edu	37	chr2	39042697	39042697	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	catctaagacaccatctcctCcttgggcccttttctcaatt	4	15	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:39042697C>A	ENST00000295373.6	-	20	3698	c.3572G>T	c.(3571-3573)gGa>gTa	p.G1191V		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1191							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACCATCTCCTCCTTGGGCCCT	0.448																																					Melanoma(191;1090 2095 4375 23729 47341)												0													232	217	222					2																	39042697		2203	4300	6503	SO:0001583	missense	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3572G>T	2.37:g.39042697C>A	ENSP00000295373:p.Gly1191Val		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G1191V	ENST00000295373.6	37	c.3572	CCDS1800.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.48|13.48	2.248965|2.248965	0.39797|0.39797	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.03035|.	4.07|.	5.29|5.29	2.42|2.42	0.29668|0.29668	Domain of unknown function DUF1605 (1);|.	0.252376|.	0.27881|.	N|.	0.017470|.	T|T	0.41994|0.41994	0.1183|0.1183	L|L	0.31752|0.31752	0.955|0.955	0.80722|0.80722	D|D	1|1	P;P|.	0.37594|.	0.503;0.601|.	B;B|.	0.42959|.	0.238;0.403|.	T|T	0.09952|0.09952	-1.0651|-1.0651	10|5	0.44086|.	T|.	0.13|.	.|.	6.9729|6.9729	0.24658|0.24658	0.132:0.6723:0.127:0.0687|0.132:0.6723:0.127:0.0687	.|.	1191;583|.	Q6P158;Q59G60|.	DHX57_HUMAN;.|.	V|S	1191|514	ENSP00000295373:G1191V|.	ENSP00000295373:G1191V|.	G|R	-|-	2|3	0|2	DHX57|DHX57	38896201|38896201	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.931000|0.931000	0.56810|0.56810	1.471000|1.471000	0.35365|0.35365	0.275000|0.275000	0.22094|0.22094	0.563000|0.563000	0.77884|0.77884	GGA|AGG	DHX57	-	pfam_DUF1605		0.448	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	C	NM_145646		39042697	-1	no_errors	ENST00000295373	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39042697	C	A	39042697	3	1	168	1	0	0	0	0	1	0	0	0	4523	855	30	3	608	3	DHX57	2	39042697	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	10040948	39042697	204156676	64	31781										
EPAS1	2034	genome.wustl.edu	37	chr2	46583934	46583934	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaggagattcgtgagaacctGagtctcaaaaatggtatcct	11	7	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:46583934G>C	ENST00000263734.3	+	4	951	c.441G>C	c.(439-441)ctG>ctC	p.L147L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	147	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAGAACCTGAGTCTCAAAA	0.458																																																	0													139	133	135					2																	46583934		2203	4300	6503	SO:0001819	synonymous_variant	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.441G>C	2.37:g.46583934G>C			Q86VA2|Q99630	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.L147	ENST00000263734.3	37	c.441	CCDS1825.1	2																																																																																			EPAS1	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.458	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	G	NM_001430		46583934	1	no_errors	ENST00000263734	ensembl	human	known	70_37	silent	SNP	1.000	C	C	46583934	G	C	46583934	2	2	168	1	0	0	0	0	0	0	0	1	5162	1277	45	1		1	EPAS1	2	46583934	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7541237	46583934	196615439	65	31782										
ATP6V1E2	90423	genome.wustl.edu	37	chr2	46739562	46739562	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gctgagtctcagcttcgcctCactgagcaaatctgagatga	10	11	3	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:46739562C>T	ENST00000306448.4	-	2	1402	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E97K	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	97					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGCTTCGCCTCACTGAGCAAA	0.547																																																	0													97	93	95					2																	46739562		2203	4300	6503	SO:0001583	missense	90423			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"ATPases / V-type"	18125	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.289G>A	2.37:g.46739562C>T	ENSP00000304891:p.Glu97Lys			Missense_Mutation	SNP	pfam_ATPase_V1/A1-cplx_esu	p.E97K	ENST00000306448.4	37	c.289	CCDS1826.1	2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842903	0.51057	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.22	4.22	0.49857	.	0.536026	0.21463	N	0.074138	T	0.71273	0.3320	M	0.71920	2.185	0.40580	D	0.981389	P	0.45126	0.851	P	0.53185	0.72	T	0.75213	-0.3397	9	0.72032	D	0.01	-0.8114	12.4062	0.55441	0.0:1.0:0.0:0.0	.	97	Q96A05	VATE2_HUMAN	K	97	.	ENSP00000304891:E97K	E	-	1	0	ATP6V1E2	46593066	0.993000	0.37304	0.067000	0.19924	0.006000	0.05464	3.564000	0.53791	2.636000	0.89361	0.655000	0.94253	GAG	ATP6V1E2	-	pfam_ATPase_V1/A1-cplx_esu		0.547	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E2	HGNC	protein_coding	OTTHUMT00000250753.1	C	NM_080653		46739562	-1	no_errors	ENST00000306448	ensembl	human	known	70_37	missense	SNP	0.497	T	T	46739562	C	T	46739562	3	4	168	1	0	0	0	0	1	0	0	0	1185	835	29	1	395	1	ATP6V1E2	2	46739562	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	155628	46739562	196459811	66	31783										
REL	5966	genome.wustl.edu	37	chr2	61149532	61149532	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agttgtgcagataacagcatGataaatgagtcgggaccatc	11	7	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:61149532G>A	ENST00000295025.8	+	11	2042	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	REL_ENST00000394479.3_Missense_Mutation_p.M542I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	574					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATAACAGCATGATAAATGAGT	0.398			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													101	96	98					2																	61149532		2203	4300	6503	SO:0001583	missense	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1722G>A	2.37:g.61149532G>A	ENSP00000295025:p.Met574Ile		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.M574I	ENST00000295025.8	37	c.1722	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	4.658	0.122381	0.08931	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.39592	1.07;1.1	5.74	1.02	0.19986	.	0.733784	0.13609	N	0.375221	T	0.16514	0.0397	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.28396	-1.0045	10	0.02654	T	1	-4.2572	2.0426	0.03553	0.1083:0.3011:0.2813:0.3093	.	542;574	Q17RU2;Q04864	.;REL_HUMAN	I	574;542	ENSP00000295025:M574I;ENSP00000377989:M542I	ENSP00000295025:M574I	M	+	3	0	REL	61003036	0.014000	0.17966	0.003000	0.11579	0.674000	0.39518	0.859000	0.27858	0.733000	0.32492	0.650000	0.86243	ATG	REL	-	NULL		0.398	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	G	NM_002908		61149532	1	no_errors	ENST00000295025	ensembl	human	known	70_37	missense	SNP	0.000	A	A	61149532	G	A	61149532	3	1	168	1	0	0	0	0	1	0	0	0	13245	1290	45	1	1764	1	REL	2	61149532	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	14409970	61149532	182049841	67	31784										
AAK1	22848	genome.wustl.edu	37	chr2	69723155	69723155	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaagaggaatgaaaggatcaGacacgcttagaagcgggagg	16	5	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:69723155G>C	ENST00000409085.4	-	17	2703	c.2327C>G	c.(2326-2328)tCt>tGt	p.S776C	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Missense_Mutation_p.S776C	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	776					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GAAAGGATCAGACACGCTTAG	0.502																																																	0													51	55	54					2																	69723155		1924	4079	6003	SO:0001583	missense	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2327C>G	2.37:g.69723155G>C	ENSP00000386456:p.Ser776Cys		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S776C	ENST00000409085.4	37	c.2327	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949853	0.53186	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	T;T	0.36340	1.26;1.26	4.98	4.98	0.66077	.	0.167785	0.40469	N	0.001088	T	0.42562	0.1208	N	0.24115	0.695	0.33747	D	0.62012	D;D;D	0.69078	0.994;0.997;0.983	P;P;P	0.60473	0.753;0.875;0.635	T	0.55108	-0.8192	10	0.56958	D	0.05	-16.6951	15.1118	0.72362	0.0:0.0:1.0:0.0	.	776;776;776	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	C	776	ENSP00000386456:S776C;ENSP00000385181:S776C	ENSP00000385181:S776C	S	-	2	0	AAK1	69576659	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.984000	0.63838	2.590000	0.87494	0.561000	0.74099	TCT	AAK1	-	NULL		0.502	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	G	NM_014911		69723155	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69723155	G	C	69723155	3	2	168	1	0	0	0	0	1	0	0	0	16	942	33	1	582	1	AAK1	2	69723155	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	8573623	69723155	173476218	68	31785										
MOGS	7841	genome.wustl.edu	37	chr2	74689731	74689731	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	attccaccaaggaggccgctGagggcagcctgacccaaaac	11	14	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:74689731G>A	ENST00000233616.4	-	4	1347	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Silent_p.L289L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	395					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGAGGCCGCTGAGGGCAGCCT	0.582																																																	0													111	121	118					2																	74689731		1935	4131	6066	SO:0001819	synonymous_variant	7841			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1185C>T	2.37:g.74689731G>A			A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like	p.L395	ENST00000233616.4	37	c.1185	CCDS42700.1	2																																																																																			MOGS	-	pfam_Glycoside_hydrolase_63		0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGS	HGNC	protein_coding	OTTHUMT00000328382.1	G	NM_006302		74689731	-1	no_errors	ENST00000233616	ensembl	human	known	70_37	silent	SNP	0.998	A	A	74689731	G	A	74689731	2	1	168	1	0	0	0	0	0	0	0	1	9720	1277	45	1		1	MOGS	2	74689731	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	4966576	74689731	168509642	69	31786										
CCDC142	84865	genome.wustl.edu	37	chr2	74708006	74708006	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agcttctgcctcatgcaacaGaggctttgggtggaaacagg	13	9	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:74708006G>C	ENST00000393965.3	-	5	1789	c.1393C>G	c.(1393-1395)Ctg>Gtg	p.L465V	TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.L458V	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	465								p.L458L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCATGCAACAGAGGCTTTGGG	0.572																																																	1	Substitution - coding silent(1)	urinary_tract(1)											72	68	69					2																	74708006		2203	4300	6503	SO:0001583	missense	84865			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1393C>G	2.37:g.74708006G>C	ENSP00000377537:p.Leu465Val		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	NULL	p.L465V	ENST00000393965.3	37	c.1393		2	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628104	0.28978	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.55234	0.53;0.53	4.17	2.36	0.29203	.	0.000000	0.43260	D	0.000581	T	0.66228	0.2768	M	0.74881	2.28	0.27735	N	0.944684	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.994;0.996	T	0.57283	-0.7838	10	0.51188	T	0.08	-5.5154	6.5615	0.22489	0.2215:0.0:0.7785:0.0	.	465;458;465	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	V	465;458	ENSP00000377537:L465V;ENSP00000290418:L458V	ENSP00000290418:L458V	L	-	1	2	CCDC142	74561514	1.000000	0.71417	0.272000	0.24630	0.467000	0.32768	1.337000	0.33862	0.416000	0.25844	0.561000	0.74099	CTG	CCDC142	-	NULL		0.572	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	HGNC	protein_coding	OTTHUMT00000328391.1	G	NM_032779		74708006	-1	no_errors	ENST00000393965	ensembl	human	known	70_37	missense	SNP	0.645	C	C	74708006	G	C	74708006	3	2	168	1	0	0	0	0	1	0	0	0	2781	933	33	1	879	1	CCDC142	2	74708006	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	18275	74708006	168491367	70	31787										
SEMA4F	10505	genome.wustl.edu	37	chr2	74902895	74902895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagctggctcctggttggctCccgtactgaggtgacacaag	14	11	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:74902895C>A	ENST00000357877.2	+	12	1651	c.1502C>A	c.(1501-1503)tCc>tAc	p.S501Y	SEMA4F_ENST00000339773.5_Missense_Mutation_p.S346Y|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	501	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTGGTTGGCTCCCGTACTGAG	0.562																																																	0													99	95	96					2																	74902895		2203	4300	6503	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1502C>A	2.37:g.74902895C>A	ENSP00000350547:p.Ser501Tyr		Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S501Y	ENST00000357877.2	37	c.1502	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906089	0.52333	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.35605	1.3;1.3	4.5	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.349908	0.27831	N	0.017661	T	0.50429	0.1615	M	0.66506	2.035	0.34037	D	0.65454	P;D	0.56035	0.537;0.974	P;P	0.58577	0.542;0.841	T	0.65713	-0.6101	10	0.87932	D	0	.	9.8987	0.41334	0.2033:0.7967:0.0:0.0	.	346;501	O95754-2;O95754	.;SEM4F_HUMAN	Y	501;346	ENSP00000350547:S501Y;ENSP00000342675:S346Y	ENSP00000342675:S346Y	S	+	2	0	SEMA4F	74756403	0.925000	0.31364	0.984000	0.44739	0.987000	0.75469	2.835000	0.48175	2.333000	0.79357	0.467000	0.42956	TCC	SEMA4F	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.562	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	C	NM_004263		74902895	1	no_errors	ENST00000357877	ensembl	human	known	70_37	missense	SNP	0.937	A	A	74902895	C	A	74902895	3	1	168	1	0	0	0	0	1	0	0	0	14065	855	30	3	1548	3	SEMA4F	2	74902895	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	194889	74902895	168296478	71	31788										
FAM176A	84141	genome.wustl.edu	37	chr2	75720723	75720723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaacaaagtacagagctgctCgctcaggattttctggagga	11	8	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:75720723C>T	ENST00000233712.1	-	4	535	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	EVA1A_ENST00000393913.3_Missense_Mutation_p.R33Q|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.R33Q|EVA1A_ENST00000410071.1_Missense_Mutation_p.R33Q|EVA1A_ENST00000410010.1_Missense_Mutation_p.R21Q	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	33	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											CAGAGCTGCTCGCTCAGGATT	0.517																																																	0													25	25	25					2																	75720723		2203	4300	6503	SO:0001583	missense	84141			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.98G>A	2.37:g.75720723C>T	ENSP00000233712:p.Arg33Gln		D6W5J3|Q9HC41	Missense_Mutation	SNP	NULL	p.R33Q	ENST00000233712.1	37	c.98	CCDS1959.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907156	0.92107	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	4.9	4.9	0.64082	.	0.050608	0.85682	D	0.000000	T	0.72070	0.3415	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76631	-0.2888	10	0.66056	D	0.02	3.6647	16.3808	0.83460	0.0:1.0:0.0:0.0	.	33	Q9H8M9	F176A_HUMAN	Q	33;33;33;21;33;33;33	ENSP00000377490:R33Q;ENSP00000233712:R33Q;ENSP00000386435:R33Q;ENSP00000386835:R21Q;ENSP00000386930:R33Q;ENSP00000398249:R33Q;ENSP00000388105:R33Q	ENSP00000233712:R33Q	R	-	2	0	FAM176A	75574231	1.000000	0.71417	0.962000	0.40283	0.814000	0.46013	7.532000	0.81985	2.626000	0.88956	0.650000	0.86243	CGA	EVA1A	-	NULL		0.517	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EVA1A	HGNC	protein_coding	OTTHUMT00000328707.1	C	NM_032181		75720723	-1	no_errors	ENST00000233712	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75720723	C	T	75720723	3	4	168	1	0	0	0	0	1	0	0	0	5514	884	31	1	364	1	FAM176A	2	75720723	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	817828	75720723	167478650	72	31789										
MAT2A	4144	genome.wustl.edu	37	chr2	85766425	85766425	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	accaacatgaacggacagctCaacggcttccacgaggcgtt	10	13	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:85766425C>T	ENST00000306434.3	+	1	138	c.15C>T	c.(13-15)ctC>ctT	p.L5L	MAT2A_ENST00000409017.1_5'Flank	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	5					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ACGGACAGCTCAACGGCTTCC	0.632																																																	0													67	57	61					2																	85766425		2203	4300	6503	SO:0001819	synonymous_variant	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.15C>T	2.37:g.85766425C>T			A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.L5	ENST00000306434.3	37	c.15	CCDS1977.1	2																																																																																			MAT2A	-	NULL		0.632	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2A	HGNC	protein_coding	OTTHUMT00000252491.2	C	NM_005911		85766425	1	no_errors	ENST00000306434	ensembl	human	known	70_37	silent	SNP	1.000	T	T	85766425	C	T	85766425	2	4	168	1	0	0	0	0	0	0	0	1	9353	813	29	1		1	MAT2A	2	85766425	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	10045702	85766425	157432948	73	31790										
FAHD2A	51011	genome.wustl.edu	37	chr2	96071357	96071357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acagttctgctgcaggctcaGaagtggccctttcaaccctc	9	14	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:96071357G>A	ENST00000233379.4	+	2	204	c.51G>A	c.(49-51)caG>caA	p.Q17Q	FAHD2A_ENST00000447036.1_Silent_p.Q17Q	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	17							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q17Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TGCAGGCTCAGAAGTGGCCCT	0.567																																																	1	Substitution - coding silent(1)	breast(1)											70	70	70					2																	96071357		2203	4300	6503	SO:0001819	synonymous_variant	51011			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.51G>A	2.37:g.96071357G>A			Q9Y3B0	Silent	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.Q17	ENST00000233379.4	37	c.51	CCDS2014.1	2																																																																																			FAHD2A	-	NULL		0.567	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD2A	HGNC	protein_coding	OTTHUMT00000252778.1	G	NM_016044		96071357	1	no_errors	ENST00000233379	ensembl	human	known	70_37	silent	SNP	0.925	A	A	96071357	G	A	96071357	2	1	168	1	0	0	0	0	0	0	0	1	5388	933	33	1		1	FAHD2A	2	96071357	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	10304932	96071357	147128016	74	31791										
MYO7B	4648	genome.wustl.edu	37	chr2	128366440	128366440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gggccaggagggccaggcctCgccgcactttgaggtaacac	15	13	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:128366440C>T	ENST00000409816.2	+	21	2833	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	MYO7B_ENST00000389524.4_Missense_Mutation_p.S934L|MYO7B_ENST00000428314.1_Missense_Mutation_p.S934L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	934						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCAGGCCTCGCCGCACTTT	0.627																																																	0													30	35	33					2																	128366440		2074	4189	6263	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2801C>T	2.37:g.128366440C>T	ENSP00000386461:p.Ser934Leu		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.S934L	ENST00000409816.2	37	c.2801	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497814	0.64186	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87334	-2.24;-2.24;-2.24	5.44	5.44	0.79542	.	0.443816	0.23116	N	0.051758	T	0.80691	0.4671	N	0.22421	0.69	0.09310	N	0.999999	B	0.22800	0.075	B	0.15870	0.014	T	0.71451	-0.4589	10	0.51188	T	0.08	.	17.0541	0.86529	0.0:1.0:0.0:0.0	.	934	Q6PIF6	MYO7B_HUMAN	L	934	ENSP00000374175:S934L;ENSP00000415090:S934L;ENSP00000386461:S934L	ENSP00000374175:S934L	S	+	2	0	MYO7B	128082910	0.421000	0.25465	0.005000	0.12908	0.224000	0.24922	5.284000	0.65627	2.548000	0.85928	0.462000	0.41574	TCG	MYO7B	-	NULL		0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128366440	1	no_errors	ENST00000389524	ensembl	human	known	70_37	missense	SNP	0.174	T	T	128366440	C	T	128366440	3	4	168	1	0	0	0	0	1	0	0	0	10106	893	31	1	2883	1	MYO7B	2	128366440	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	32295083	128366440	114832933	75	31792										
LRP1B	53353	genome.wustl.edu	37	chr2	141093401	141093401	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtccctgggccttttaaattCaggacactacaaggaaacaa	8	10	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:141093401C>G	ENST00000389484.3	-	78	12870	c.11899G>C	c.(11899-11901)Gaa>Caa	p.E3967Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3967					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTTAAATTCAGGACACTAC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													85	83	84					2																	141093401		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11899G>C	2.37:g.141093401C>G	ENSP00000374135:p.Glu3967Gln		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E3967Q	ENST00000389484.3	37	c.11899	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721877	0.68959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91351	-2.83	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.132411	0.49916	D	0.000130	D	0.87970	0.6312	L	0.38175	1.15	0.41939	D	0.990606	P	0.42827	0.791	B	0.43413	0.419	D	0.85213	0.1022	10	0.16896	T	0.51	.	19.6188	0.95647	0.0:1.0:0.0:0.0	.	3967	Q9NZR2	LRP1B_HUMAN	Q	3967;3905	ENSP00000374135:E3967Q	ENSP00000374135:E3967Q	E	-	1	0	LRP1B	140809871	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.356000	0.79445	2.699000	0.92147	0.650000	0.86243	GAA	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141093401	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	G	G	141093401	C	G	141093401	3	3	168	1	0	0	0	0	1	0	0	0	8978	835	29	1	1956	1	LRP1B	2	141093401	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	12726961	141093401	102105972	76	31793										
SCN7A	6332	genome.wustl.edu	37	chr2	167289033	167289033	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cttgggtgttgctcaattcaGaaagggtatggtcagaaata	12	5	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:167289033G>C	ENST00000409855.1	-	15	2513	c.2387C>G	c.(2386-2388)tCt>tGt	p.S796C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	796					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GCTCAATTCAGAAAGGGTATG	0.368																																																	0													233	220	224					2																	167289033		1834	4085	5919	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2387C>G	2.37:g.167289033G>C	ENSP00000386796:p.Ser796Cys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S796C	ENST00000409855.1	37	c.2387	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393758	0.62066	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.84146	-1.81;-1.81	5.51	2.48	0.30137	Sodium ion transport-associated (1);	0.231431	0.30940	N	0.008569	D	0.86410	0.5926	M	0.63428	1.95	0.28391	N	0.919096	D	0.64830	0.994	P	0.57371	0.819	T	0.79127	-0.1931	10	0.62326	D	0.03	.	5.9477	0.19227	0.0892:0.0:0.5539:0.3569	.	796	Q01118	SCN7A_HUMAN	C	796	ENSP00000386796:S796C;ENSP00000413699:S796C	ENSP00000259060:S796C	S	-	2	0	SCN7A	166997279	0.000000	0.05858	0.997000	0.53966	0.903000	0.53119	0.368000	0.20399	0.867000	0.35654	0.561000	0.74099	TCT	SCN7A	-	pfam_Na_trans_assoc		0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	G			167289033	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	missense	SNP	0.947	C	C	167289033	G	C	167289033	3	2	168	1	0	0	0	0	1	0	0	0	13953	942	33	1	2705	1	SCN7A	2	167289033	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	26195632	167289033	75910340	77	31794										
XIRP2	129446	genome.wustl.edu	37	chr2	168114788	168114788	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tatcccctgaatttaaaagtGaatctctgctagaagatgtt	7	7	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:168114788G>A	ENST00000409728.1	+	11	1920	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E578K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E578K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E356K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E611K	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTAAAAGTGAATCTCTGCT	0.403																																																	0													91	90	90					2																	168114788		1859	4092	5951	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1831G>A	2.37:g.168114788G>A	ENSP00000386619:p.Glu611Lys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E611K	ENST00000409728.1	37	c.1831	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760408	0.31137	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.79352	-1.24;-1.24;-1.24;-1.24;-1.26	6.06	6.06	0.98353	.	.	.	.	.	T	0.79149	0.4397	.	.	.	0.23227	N	0.998084	P;P	0.49559	0.925;0.925	P;P	0.49752	0.621;0.621	T	0.73997	-0.3806	8	0.87932	D	0	.	10.4365	0.44439	0.0687:0.242:0.6893:0.0	.	578;611	A4UGR9-4;A4UGR9-6	.;.	K	578;611;578;611;356	ENSP00000386454:E578K;ENSP00000386619:E611K;ENSP00000386724:E578K;ENSP00000415541:E611K;ENSP00000386981:E356K	ENSP00000386454:E578K	E	+	1	0	XIRP2	167823034	0.653000	0.27358	0.021000	0.16686	0.609000	0.37215	2.590000	0.46154	2.882000	0.98803	0.655000	0.94253	GAA	XIRP2	-	NULL		0.403	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168114788	1	no_errors	ENST00000420519	ensembl	human	known	70_37	missense	SNP	0.013	A	A	168114788	G	A	168114788	3	1	168	1	0	0	0	0	1	0	0	0	17461	1291	45	1	11149	1	XIRP2	2	168114788	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	825755	168114788	75084585	78	31795										
GAD1	2571	genome.wustl.edu	37	chr2	171702126	171702126	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aactggtcctcttcacctcaGaacaggtgagtcggggatgc	12	11	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:171702126G>A	ENST00000358196.3	+	8	1412	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	288					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CTTCACCTCAGAACAGGTGAG	0.488																																																	0													95	96	96					2																	171702126		2203	4300	6503	SO:0001583	missense	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.862G>A	2.37:g.171702126G>A	ENSP00000350928:p.Glu288Lys		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E288K	ENST00000358196.3	37	c.862	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159238	0.78226	.	.	ENSG00000128683	ENST00000358196	T	0.38401	1.14	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.55017	1.72	0.80722	D	1	D	0.62365	0.991	P	0.59115	0.852	T	0.43782	-0.9370	10	0.39692	T	0.17	-17.8126	19.7657	0.96340	0.0:0.0:1.0:0.0	.	288	Q99259	DCE1_HUMAN	K	288	ENSP00000350928:E288K	ENSP00000350928:E288K	E	+	1	0	GAD1	171410372	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.476000	0.97823	2.649000	0.89929	0.655000	0.94253	GAA	GAD1	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.488	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	G			171702126	1	no_errors	ENST00000358196	ensembl	human	known	70_37	missense	SNP	1.000	A	A	171702126	G	A	171702126	3	1	168	1	0	0	0	0	1	0	0	0	6197	943	33	1	929	1	GAD1	2	171702126	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3587338	171702126	71497247	79	31796										
TTN	7273	genome.wustl.edu	37	chr2	179393069	179393069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggccttaattgtgtactttCcactgtcgctgactgatgca	9	10	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:179393069C>T	ENST00000591111.1	-	311	102610	c.102386G>A	c.(102385-102387)gGa>gAa	p.G34129E	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G35770E|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G33202E|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26705E|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26830E|TTN_ENST00000342175.6_Missense_Mutation_p.G26897E|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591867.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34129	Ig-like 151.|Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTACTTTCCACTGTCGCT	0.418																																																	0													149	139	142					2																	179393069		1916	4124	6040	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102386G>A	2.37:g.179393069C>T	ENSP00000465570:p.Gly34129Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G33202E	ENST00000591111.1	37	c.99605		2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067334	0.76301	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.25	5.25	0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93733	0.7997	H	0.99299	4.505	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.96306	0.9225	9	0.87932	D	0	.	19.2035	0.93720	0.0:1.0:0.0:0.0	.	26705;26830;26897;34129;33202	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	E	33202;26705;26897;26830;26702	ENSP00000343764:G33202E;ENSP00000434586:G26705E;ENSP00000340554:G26897E;ENSP00000352154:G26830E	ENSP00000340554:G26897E	G	-	2	0	TTN	179101315	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.583000	0.82559	2.603000	0.88011	0.555000	0.69702	GGA	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179393069	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179393069	C	T	179393069	3	4	168	1	0	0	0	0	1	0	0	0	16766	855	30	1	678	1	TTN	2	179393069	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	7690943	179393069	63806304	80	31797										
TTN	7273	genome.wustl.edu	37	chr2	179407639	179407639	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccagctgggacatggatggtCttctgaggcattgtagaaag	14	7	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:179407639C>T	ENST00000591111.1	-	298	92243	c.92019G>A	c.(92017-92019)aaG>aaA	p.K30673K	TTN_ENST00000589042.1_Silent_p.K32314K|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Silent_p.K29746K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.K23249K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.K23374K|TTN_ENST00000342175.6_Silent_p.K23441K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30673	Ig-like 138.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGATGGTCTTCTGAGGCA	0.433																																																	0													264	264	264					2																	179407639		1970	4140	6110	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92019G>A	2.37:g.179407639C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K29746	ENST00000591111.1	37	c.89238		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179407639	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179407639	C	T	179407639	2	4	168	1	0	0	0	0	0	0	0	1	16766	912	32	1		1	TTN	2	179407639	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	14570	179407639	63791734	81	31798										
ITGA4	3676	genome.wustl.edu	37	chr2	182339728	182339728	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtggaaagacttgtttggaaGagagagacaatcagtggttg	15	3	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:182339728G>C	ENST00000397033.2	+	3	791	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.E121Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	121					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTGTTTGGAAGAGAGAGACAA	0.418																																																	0													102	99	100					2																	182339728		1880	4116	5996	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.361G>C	2.37:g.182339728G>C	ENSP00000380227:p.Glu121Gln		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E121Q	ENST00000397033.2	37	c.361	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.805036	0.90623	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.58210	0.35;0.35;0.35	5.28	5.28	0.74379	.	0.049329	0.85682	D	0.000000	T	0.70168	0.3193	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.968;0.984	T	0.66388	-0.5936	10	0.33141	T	0.24	.	19.2608	0.93967	0.0:0.0:1.0:0.0	.	121;121	E7EP60;P13612	.;ITA4_HUMAN	Q	121	ENSP00000340149:E121Q;ENSP00000380227:E121Q;ENSP00000233573:E121Q	ENSP00000233573:E121Q	E	+	1	0	ITGA4	182047973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.544000	0.90654	2.623000	0.88846	0.655000	0.94253	GAG	ITGA4	-	NULL		0.418	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	G			182339728	1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	C	C	182339728	G	C	182339728	3	2	168	1	0	0	0	0	1	0	0	0	7898	943	33	1	371	1	ITGA4	2	182339728	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2932089	182339728	60859645	82	31799										
FAM117B	150864	genome.wustl.edu	37	chr2	203622079	203622079	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcccagtccgtgtccccaacAtcgttcctcaccatttccaa	4	18	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:203622079A>G	ENST00000392238.2	+	6	1248	c.1248A>G	c.(1246-1248)acA>acG	p.T416T	FAM117B_ENST00000303116.6_Silent_p.T172T			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	416										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TGTCCCCAACATCGTTCCTCA	0.547																																																	0													156	133	141					2																	203622079		2203	4300	6503	SO:0001819	synonymous_variant	150864			AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1248A>G	2.37:g.203622079A>G			Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Silent	SNP	NULL	p.T416	ENST00000392238.2	37	c.1248	CCDS33362.2	2																																																																																			FAM117B	-	NULL		0.547	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117B	HGNC	protein_coding	OTTHUMT00000335888.3	A	NM_173511		203622079	1	no_errors	ENST00000392238	ensembl	human	known	70_37	silent	SNP	0.130	G	G	203622079	A	G	203622079	2	3	168	1	0	0	0	0	0	0	0	1	5425	204	8	5		5	FAM117B	2	203622079	Silent	SNP	A	TCGA-LP-A4AV-01A-11D-A243-09	21282351	203622079	39577294	83	31800										
MAP2	4133	genome.wustl.edu	37	chr2	210557640	210557640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	accaagccttgtagtacctgGcattgacctccctaaagagc	8	13	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:210557640G>T	ENST00000360351.4	+	7	1252	c.746G>T	c.(745-747)gGc>gTc	p.G249V	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G245V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	249					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GTAGTACCTGGCATTGACCTC	0.473																																					Pancreas(27;423 979 28787 29963)												0													74	79	77					2																	210557640		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.746G>T	2.37:g.210557640G>T	ENSP00000353508:p.Gly249Val		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.G249V	ENST00000360351.4	37	c.746	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457089	0.63401	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.23348	3.28;1.91;3.28	5.98	0.535	0.17133	.	0.734906	0.13074	N	0.415855	T	0.14270	0.0345	N	0.22421	0.69	0.31471	N	0.66844	B;B	0.31548	0.328;0.22	B;B	0.29785	0.107;0.05	T	0.17930	-1.0353	10	0.49607	T	0.09	-1.3533	5.2319	0.15426	0.3921:0.2237:0.3841:0.0	.	245;249	P11137-3;P11137	.;MAP2_HUMAN	V	249;331;245	ENSP00000353508:G249V;ENSP00000409969:G331V;ENSP00000392164:G245V	ENSP00000353508:G249V	G	+	2	0	MAP2	210265885	0.979000	0.34478	0.999000	0.59377	0.987000	0.75469	0.485000	0.22324	0.426000	0.26116	0.655000	0.94253	GGC	MAP2	-	NULL		0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210557640	1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.571	T	T	210557640	G	T	210557640	3	4	168	1	0	0	0	0	1	0	0	0	9258	1203	42	4	760	4	MAP2	2	210557640	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	6935561	210557640	32641733	84	31801										
CPS1	1373	genome.wustl.edu	37	chr2	211421548	211421548	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgcacaccaaaaatggaaaTtttcaagacctggcatcagg	8	10	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:211421548T>A	ENST00000233072.5	+	1	287	c.91T>A	c.(91-93)Ttt>Att	p.F31I	CPS1_ENST00000430249.2_Missense_Mutation_p.F37I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	31					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAAATGGAAATTTTCAAGACC	0.393																																																	0													106	106	106					2																	211421548		2203	4299	6502	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.91T>A	2.37:g.211421548T>A	ENSP00000233072:p.Phe31Ile		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.F37I	ENST00000233072.5	37	c.109	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629822	0.46944	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000544169;ENST00000536125	D;D;D;D;D	0.97688	-3.22;-3.22;-3.38;-4.48;-4.49	5.78	1.8	0.24995	.	0.660297	0.16392	N	0.216417	D	0.92116	0.7501	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.84713	0.0735	10	0.32370	T	0.25	-18.9857	3.9382	0.09314	0.1219:0.0783:0.141:0.6588	.	41;31	Q59HF8;P31327	.;CPSM_HUMAN	I	31;31;37;37;39;31;31;31	ENSP00000388496:F31I;ENSP00000430697:F31I;ENSP00000430644:F37I;ENSP00000402608:F37I;ENSP00000233072:F31I	ENSP00000233072:F31I	F	+	1	0	CPS1	211129793	0.039000	0.19947	0.964000	0.40570	0.969000	0.65631	0.110000	0.15437	0.437000	0.26423	0.533000	0.62120	TTT	CPS1	-	NULL		0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	T			211421548	1	no_errors	ENST00000430249	ensembl	human	known	70_37	missense	SNP	0.902	A	A	211421548	T	A	211421548	3	1	168	1	0	0	0	0	1	0	0	0	3828	1493	52	5	115	5	CPS1	2	211421548	Missense_Mutation	SNP	T	TCGA-LP-A4AV-01A-11D-A243-09	863908	211421548	31777825	85	31802										
SPEG	10290	genome.wustl.edu	37	chr2	220312722	220312722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccctcagagcgggttgcgcaGggaggagcccgaccttcagc	15	14	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:220312722G>T	ENST00000312358.7	+	4	974	c.842G>T	c.(841-843)aGg>aTg	p.R281M	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.R177M|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	281					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGTTGCGCAGGGAGGAGCCC	0.652																																																	0													16	20	19					2																	220312722		2030	4180	6210	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.842G>T	2.37:g.220312722G>T	ENSP00000311684:p.Arg281Met		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R281M	ENST00000312358.7	37	c.842	CCDS42824.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.91|17.91	3.505398|3.505398	0.64410|0.64410	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000451076|ENST00000312358;ENST00000265327;ENST00000435853;ENST00000431523;ENST00000396698	.|T;T;T;T	.|0.68765	.|-0.35;0.49;0.48;-0.08	4.88|4.88	2.95|2.95	0.34219|0.34219	.|.	.|0.157002	.|0.29730	.|N	.|0.011343	T|T	0.50463|0.50463	0.1617|0.1617	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P	.|0.50710	.|0.938	.|B	.|0.41946	.|0.371	T|T	0.54833|0.54833	-0.8234|-0.8234	5|10	.|0.72032	.|D	.|0.01	.|.	9.7389|9.7389	0.40406|0.40406	0.0773:0.1408:0.782:0.0|0.0773:0.1408:0.782:0.0	.|.	.|281	.|Q15772	.|SPEG_HUMAN	H|M	131|281;281;131;128;177	.|ENSP00000311684:R281M;ENSP00000393134:R131M;ENSP00000410986:R128M;ENSP00000379926:R177M	.|ENSP00000265327:R281M	Q|R	+|+	3|2	2|0	SPEG|SPEG	220020966|220020966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.063000|3.063000	0.49978|0.49978	1.056000|1.056000	0.40484|0.40484	0.655000|0.655000	0.94253|0.94253	CAG|AGG	SPEG	-	NULL		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220312722	1	no_errors	ENST00000312358	ensembl	human	novel	70_37	missense	SNP	0.988	T	T	220312722	G	T	220312722	3	4	168	1	0	0	0	0	1	0	0	0	15066	1000	35	4	856	4	SPEG	2	220312722	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	8891174	220312722	22886651	86	31803										
STK11IP	114790	genome.wustl.edu	37	chr2	220473122	220473122	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggaggcaggagaggaggaaGaagaggagcaggaccagaag	20	4	0	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:220473122G>A	ENST00000456909.1	+	14	1663	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	STK11IP_ENST00000295641.10_Missense_Mutation_p.E536K			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	536	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		agaggaggaagaagaggagca	0.627																																																	0													7	8	8					2																	220473122		2122	4212	6334	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1573G>A	2.37:g.220473122G>A	ENSP00000389383:p.Glu525Lys		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.E525K	ENST00000456909.1	37	c.1573		2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166687	0.78339	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05382	3.45;3.45	4.78	4.78	0.61160	.	0.918331	0.09333	N	0.816649	T	0.14056	0.0340	L	0.46157	1.445	0.41433	D	0.98787	P;P;P	0.49559	0.873;0.873;0.925	B;B;P	0.49752	0.426;0.426;0.621	T	0.21008	-1.0258	10	0.32370	T	0.25	4.0E-4	17.6058	0.88037	0.0:0.0:1.0:0.0	.	504;536;536	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	K	525;504;536	ENSP00000389383:E525K;ENSP00000295641:E536K	ENSP00000295641:E536K	E	+	1	0	STK11IP	220181366	0.612000	0.27000	0.973000	0.42090	0.445000	0.32107	3.723000	0.54955	2.477000	0.83638	0.561000	0.74099	GAA	STK11IP	-	NULL		0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	G	NM_052902		220473122	1	no_errors	ENST00000456909	ensembl	human	novel	70_37	missense	SNP	0.998	A	A	220473122	G	A	220473122	3	1	168	1	0	0	0	0	1	0	0	0	15318	943	33	1	1660	1	STK11IP	2	220473122	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	160400	220473122	22726251	87	31804										
ACSL3	2181	genome.wustl.edu	37	chr2	223787797	223787797	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actttttcttattttgtagtCttcaaaaattaaaaaaggaa	4	4	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:223787797C>G	ENST00000357430.3	+	10	1613	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	ACSL3_ENST00000392066.3_Splice_Site_p.S361C	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	361					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.S361F(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	ATTTTGTAGTCTTCAAAAATT	0.294			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	2	Substitution - Missense(2)	prostate(2)											39	42	41					2																	223787797		2200	4298	6498	SO:0001630	splice_region_variant	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1081-1C>G	2.37:g.223787797C>G			Q60I92|Q8IUM9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S361C	ENST00000357430.3	37	c.1082	CCDS2455.1	2	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630608	0.67015	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.44482	2.84;2.84;0.92	5.36	5.36	0.76844	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84109	0.0400	10	0.87932	D	0	-17.346	19.0985	0.93265	0.0:1.0:0.0:0.0	.	361	O95573	ACSL3_HUMAN	C	361;361;131	ENSP00000350012:S361C;ENSP00000375918:S361C;ENSP00000404182:S131C	ENSP00000350012:S361C	S	+	2	0	ACSL3	223496041	0.998000	0.40836	1.000000	0.80357	0.388000	0.30384	5.648000	0.67930	2.524000	0.85096	0.655000	0.94253	TCT	ACSL3	-	pfam_AMP-dep_Synth/Lig		0.294	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	C	NM_004457	Missense_Mutation	223787797	1	no_errors	ENST00000357430	ensembl	human	known	70_37	missense	SNP	1.000	G	G	223787797	C	G	223787797	5	3	168	1	0	0	0	0	0	0	1	0	178	927	32	1	1108	1	ACSL3	2	223787797	Splice_Site	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3314675	223787797	19411576	88	31805										
SPHKAP	80309	genome.wustl.edu	37	chr2	228882203	228882203	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaactcatcggtgatgctctCacagctcgactgcttggaga	10	11	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:228882203C>A	ENST00000392056.3	-	7	3413	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E1123*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1123						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTGATGCTCTCACAGCTCGAC	0.542																																																	0													42	36	38					2																	228882203		2203	4300	6503	SO:0001587	stop_gained	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3367G>T	2.37:g.228882203C>A	ENSP00000375909:p.Glu1123*		Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	pfam_AKAP_110_C	p.E1123*	ENST00000392056.3	37	c.3367	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.937437	0.99010	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8971	0.92427	0.0:1.0:0.0:0.0	.	.	.	.	X	1123	.	ENSP00000339886:E1123X	E	-	1	0	SPHKAP	228590447	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.152000	0.77419	2.785000	0.95823	0.655000	0.94253	GAG	SPHKAP	-	NULL		0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228882203	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	228882203	C	A	228882203	4	1	168	1	0	0	0	0	0	1	0	0	15078	835	29	3	1759	3	SPHKAP	2	228882203	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	5094406	228882203	14317170	89	31806										
SPHKAP	80309	genome.wustl.edu	37	chr2	228882252	228882252	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gccctgctgaccggctggctCagcgtgctcattaagcccag	12	15	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr2:228882252C>T	ENST00000392056.3	-	7	3364	c.3318G>A	c.(3316-3318)ctG>ctA	p.L1106L	SPHKAP_ENST00000344657.5_Silent_p.L1106L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1106						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCGGCTGGCTCAGCGTGCTCA	0.577																																																	0													28	27	28					2																	228882252		2203	4300	6503	SO:0001819	synonymous_variant	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3318G>A	2.37:g.228882252C>T			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.L1106	ENST00000392056.3	37	c.3318	CCDS46537.1	2																																																																																			SPHKAP	-	NULL		0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228882252	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	silent	SNP	0.017	T	T	228882252	C	T	228882252	2	4	168	1	0	0	0	0	0	0	0	1	15078	813	29	1		1	SPHKAP	2	228882252	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	49	228882252	14317121	90	31807										
IL5RA	3568	genome.wustl.edu	37	chr3	3139969	3139969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	attcacaattgaggttccagGagaccctaggtagtcaaaag	10	8	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:3139969G>A	ENST00000446632.2	-	6	947	c.373C>T	c.(373-375)Cct>Tct	p.P125S	IL5RA_ENST00000311981.8_Missense_Mutation_p.P125S|IL5RA_ENST00000256452.3_Missense_Mutation_p.P125S|IL5RA_ENST00000430514.2_Missense_Mutation_p.P125S|IL5RA_ENST00000456302.1_Missense_Mutation_p.P125S|IL5RA_ENST00000383846.1_Missense_Mutation_p.P125S|IL5RA_ENST00000418488.2_Missense_Mutation_p.P125S|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.P125S	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	125					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GAGGTTCCAGGAGACCCTAGG	0.398																																					GBM(169;430 2801 24955 28528)												0													144	146	145					3																	3139969		2203	4300	6503	SO:0001583	missense	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.373C>T	3.37:g.3139969G>A	ENSP00000412209:p.Pro125Ser		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.P125S	ENST00000446632.2	37	c.373	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	5.057	0.196121	0.09599	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	D;D;D;T;T;T;T;T;T	0.88124	-2.34;-2.27;-2.34;1.18;1.17;1.17;1.17;1.17;1.44	5.72	4.84	0.62591	Immunoglobulin-like fold (1);	0.631808	0.15939	N	0.237269	D	0.83422	0.5251	L	0.56769	1.78	0.38343	D	0.944125	B;B;B;B;B	0.31968	0.31;0.176;0.214;0.136;0.349	B;B;B;B;B	0.28553	0.06;0.054;0.073;0.033;0.091	T	0.81640	-0.0841	10	0.36615	T	0.2	-12.0206	11.0623	0.47955	0.0861:0.0:0.9139:0.0	.	125;125;125;125;125	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	S	125	ENSP00000412209:P125S;ENSP00000390753:P125S;ENSP00000256452:P125S;ENSP00000388858:P125S;ENSP00000373358:P125S;ENSP00000309196:P125S;ENSP00000400400:P125S;ENSP00000392059:P125S;ENSP00000398117:P125S	ENSP00000256452:P125S	P	-	1	0	IL5RA	3114969	0.895000	0.30542	0.084000	0.20598	0.141000	0.21300	0.634000	0.24614	1.385000	0.46445	0.655000	0.94253	CCT	IL5RA	-	NULL		0.398	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	G			3139969	-1	no_errors	ENST00000256452	ensembl	human	known	70_37	missense	SNP	0.338	A	A	3139969	G	A	3139969	3	1	168	1	0	0	0	0	1	0	0	0	7720	1174	41	1	943	1	IL5RA	3	3139969	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		3139969	194882461	91	31808										
SUMF1	285362	genome.wustl.edu	37	chr3	4508728	4508728	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agcctcccgcgagtatcggtGagcggctgccgaactgccat	13	14	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:4508728G>A	ENST00000272902.5	-	1	237	c.202C>T	c.(202-204)Cac>Tac	p.H68Y	SUMF1_ENST00000405420.2_Missense_Mutation_p.H68Y|SUMF1_ENST00000534863.1_Missense_Mutation_p.H68Y|SUMF1_ENST00000383843.5_Missense_Mutation_p.H68Y|SUMF1_ENST00000458465.2_Missense_Mutation_p.H68Y	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	68					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		GAGTATCGGTGAGCGGCTGCC	0.731																																																	0													3	5	4					3																	4508728		1484	3419	4903	SO:0001583	missense	285362			BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.202C>T	3.37:g.4508728G>A	ENSP00000272902:p.His68Tyr		B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.H68Y	ENST00000272902.5	37	c.202	CCDS2564.1	3	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675057	0.67928	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.92545	-2.61;-3.06;-3.02;-2.21;-3.06	4.51	4.51	0.55191	.	0.539283	0.19787	N	0.106085	D	0.86781	0.6015	L	0.40543	1.245	0.34886	D	0.745077	B;B;B;B	0.33073	0.396;0.139;0.138;0.086	B;B;B;B	0.32211	0.142;0.05;0.059;0.025	D	0.86538	0.1826	10	0.16896	T	0.51	-18.8174	12.9119	0.58184	0.0:0.0:1.0:0.0	.	68;68;68;68	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	Y	68	ENSP00000440421:H68Y;ENSP00000272902:H68Y;ENSP00000373355:H68Y;ENSP00000410060:H68Y;ENSP00000384977:H68Y	ENSP00000272902:H68Y	H	-	1	0	SUMF1	4483728	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.186000	0.50942	2.482000	0.83794	0.585000	0.79938	CAC	SUMF1	-	NULL		0.731	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF1	HGNC	protein_coding	OTTHUMT00000206591.2	G	NM_182760		4508728	-1	no_errors	ENST00000448413	ensembl	human	known	70_37	missense	SNP	1.000	A	A	4508728	G	A	4508728	3	1	168	1	0	0	0	0	1	0	0	0	15415	1290	45	1	958	1	SUMF1	3	4508728	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1368759	4508728	193513702	92	31809										
ITPR1	3708	genome.wustl.edu	37	chr3	4821245	4821245	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tccaactagaacaatgcctcGaagttgctcctggccatcat	7	13	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:4821245G>A	ENST00000443694.2	+	46	6258	c.6258G>A	c.(6256-6258)tcG>tcA	p.S2086S	ITPR1_ENST00000354582.6_Silent_p.S2086S|ITPR1_ENST00000302640.8_Silent_p.S2086S|ITPR1_ENST00000357086.4_Silent_p.S2053S|ITPR1_ENST00000456211.2_Silent_p.S2038S|ITPR1_ENST00000423119.2_Silent_p.S2053S|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2101					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACAATGCCTCGAAGTTGCTCC	0.547																																																	0													104	104	104					3																	4821245		1934	4128	6062	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6258G>A	3.37:g.4821245G>A			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.S2086	ENST00000443694.2	37	c.6258	CCDS54551.1	3																																																																																			ITPR1	-	NULL		0.547	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4821245	1	no_errors	ENST00000302640	ensembl	human	known	70_37	silent	SNP	0.043	A	A	4821245	G	A	4821245	2	1	168	1	0	0	0	0	0	0	0	1	7940	1045	37	1		1	ITPR1	3	4821245	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	312517	4821245	193201185	93	31810										
SGOL1	151648	genome.wustl.edu	37	chr3	20225407	20225407	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggcatggtgcagctataaaaGacctgcgtttgccaatctct	10	10	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:20225407G>C	ENST00000263753.4	-	2	252	c.113C>G	c.(112-114)tCt>tGt	p.S38C	SGOL1_ENST00000425061.1_Missense_Mutation_p.S38C|SGOL1_ENST00000452020.1_Missense_Mutation_p.S38C|SGOL1_ENST00000443724.1_Missense_Mutation_p.S38C|SGOL1_ENST00000383774.1_Missense_Mutation_p.S38C|SGOL1_ENST00000417364.1_Missense_Mutation_p.S38C|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000421451.1_Missense_Mutation_p.S38C|SGOL1_ENST00000306698.2_Missense_Mutation_p.S38C|SGOL1_ENST00000442720.1_Missense_Mutation_p.S38C|SGOL1_ENST00000412868.1_Missense_Mutation_p.S38C|SGOL1_ENST00000429446.3_Missense_Mutation_p.S38C|SGOL1_ENST00000437051.1_Missense_Mutation_p.S38C|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Missense_Mutation_p.S38C|SGOL1_ENST00000412997.1_Missense_Mutation_p.S38C	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	38	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AGCTATAAAAGACCTGCGTTT	0.308																																																	0													109	106	107					3																	20225407		2203	4300	6503	SO:0001583	missense	151648			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.113C>G	3.37:g.20225407G>C	ENSP00000263753:p.Ser38Cys		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	pfam_Shugoshin_N,pfam_Shugoshin_C	p.S38C	ENST00000263753.4	37	c.113	CCDS33716.1	3	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621383	0.28889	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;2.95;0.77;0.74;0.77;2.95;1.33;0.75;1.33;0.75	5.77	3.99	0.46301	Shugoshin, N-terminal (1);	0.384373	0.31847	N	0.006965	T	0.58047	0.2095	L	0.47716	1.5	0.09310	N	0.999999	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.996;1.0;0.999;1.0;0.999	D;D;P;D;P;D;P	0.77004	0.927;0.934;0.794;0.989;0.871;0.961;0.871	T	0.49418	-0.8942	10	0.72032	D	0.01	.	9.0707	0.36491	0.2762:0.0:0.7238:0.0	.	38;38;38;38;38;38;38	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	C	38	ENSP00000394625:S38C;ENSP00000263753:S38C;ENSP00000373284:S38C;ENSP00000414960:S38C;ENSP00000413070:S38C;ENSP00000414129:S38C;ENSP00000410458:S38C;ENSP00000389034:S38C;ENSP00000406880:S38C;ENSP00000394613:S38C	ENSP00000263753:S38C	S	-	2	0	SGOL1	20200411	0.969000	0.33509	0.961000	0.40146	0.017000	0.09413	2.399000	0.44495	0.901000	0.36495	-0.136000	0.14681	TCT	SGOL1	-	pfam_Shugoshin_N		0.308	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	G	NM_138484		20225407	-1	no_errors	ENST00000263753	ensembl	human	known	70_37	missense	SNP	0.195	C	C	20225407	G	C	20225407	3	2	168	1	0	0	0	0	1	0	0	0	14246	942	33	1	1624	1	SGOL1	3	20225407	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	15404162	20225407	177797023	94	31811										
PDCD6IP	10015	genome.wustl.edu	37	chr3	33855109	33855109	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggttcactttttggaggctCtgtaaaactgggtatgtaat	11	5	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:33855109C>G	ENST00000307296.3	+	3	700	c.323C>G	c.(322-324)tCt>tGt	p.S108C	PDCD6IP_ENST00000498147.1_3'UTR|PDCD6IP_ENST00000457054.2_Missense_Mutation_p.S108C			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	108	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTTGGAGGCTCTGTAAAACTG	0.318																																																	0													137	143	141					3																	33855109		2203	4300	6503	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.323C>G	3.37:g.33855109C>G	ENSP00000307387:p.Ser108Cys		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.S108C	ENST00000307296.3	37	c.323	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902742	0.92035	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.13778	2.56;2.58	5.41	5.41	0.78517	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.74881	2.28	0.80722	D	1	D;P;D	0.67145	0.978;0.84;0.996	P;B;P	0.62184	0.549;0.425;0.899	T	0.16012	-1.0417	10	0.72032	D	0.01	-5.8159	19.1809	0.93623	0.0:1.0:0.0:0.0	.	108;108;108	C5MQH7;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	C	108	ENSP00000307387:S108C;ENSP00000411825:S108C	ENSP00000307387:S108C	S	+	2	0	PDCD6IP	33830113	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.382000	0.79729	2.534000	0.85438	0.563000	0.77884	TCT	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.318	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	C			33855109	1	no_errors	ENST00000457054	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33855109	C	G	33855109	3	3	168	1	0	0	0	0	1	0	0	0	11648	913	32	1	333	1	PDCD6IP	3	33855109	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	13629702	33855109	164167321	95	31812										
ZNF621	285268	genome.wustl.edu	37	chr3	40573774	40573774	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aagcttattcggcatcagatGagtcatactggggaaaagcc	11	8	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:40573774G>C	ENST00000339296.5	+	5	965	c.513G>C	c.(511-513)atG>atC	p.M171I	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.M171I|ZNF621_ENST00000431278.1_Missense_Mutation_p.M60I	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		GGCATCAGATGAGTCATACTG	0.383																																																	0													85	80	82					3																	40573774		2203	4300	6503	SO:0001583	missense	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.513G>C	3.37:g.40573774G>C	ENSP00000340841:p.Met171Ile		Q14DC7|Q8TE91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M171I	ENST00000339296.5	37	c.513	CCDS2693.1	3	.	.	.	.	.	.	.	.	.	.	g	8.575	0.880849	0.17467	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.16897	2.31;2.31;2.31	4.07	3.19	0.36642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.556583	0.16461	N	0.213440	T	0.09069	0.0224	N	0.04090	-0.28	0.80722	D	1	P;B	0.35208	0.49;0.001	B;B	0.39706	0.307;0.01	T	0.19647	-1.0299	10	0.56958	D	0.05	.	6.6798	0.23113	0.2095:0.0:0.7905:0.0	.	60;171	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	I	171;171;60	ENSP00000386051:M171I;ENSP00000340841:M171I;ENSP00000413236:M60I	ENSP00000340841:M171I	M	+	3	0	ZNF621	40548778	0.000000	0.05858	0.994000	0.49952	0.259000	0.26198	-0.063000	0.11655	1.315000	0.45114	-0.122000	0.15005	ATG	ZNF621	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF621	HGNC	protein_coding	OTTHUMT00000254178.2	G	NM_198484		40573774	1	no_errors	ENST00000339296	ensembl	human	known	70_37	missense	SNP	0.970	C	C	40573774	G	C	40573774	3	2	168	1	0	0	0	0	1	0	0	0	18075	1290	45	1	527	1	ZNF621	3	40573774	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	6718665	40573774	157448656	96	31813										
FBXW12	285231	genome.wustl.edu	37	chr3	48415040	48415040	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgtgactctgtttccaggtCactatctctgcagagatggg	11	10	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:48415040C>T	ENST00000296438.5	+	4	317	c.131C>T	c.(130-132)tCa>tTa	p.S44L	FBXW12_ENST00000445170.1_Missense_Mutation_p.S25L|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.S44L	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	44	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTTTCCAGGTCACTATCTCTG	0.493																																																	0													82	83	82					3																	48415040		2203	4300	6503	SO:0001583	missense	285231			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.131C>T	3.37:g.48415040C>T	ENSP00000296438:p.Ser44Leu		E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S44L	ENST00000296438.5	37	c.131	CCDS2764.1	3	.	.	.	.	.	.	.	.	.	.	C	9.138	1.013139	0.19277	.	.	ENSG00000164049	ENST00000296438;ENST00000445170;ENST00000415155	T;T;T	0.44083	0.93;2.01;0.93	3.16	-6.33	0.01988	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	1.144270	0.06600	N	0.753676	T	0.21387	0.0515	N	0.20986	0.625	0.09310	N	1	B;B;B	0.19445	0.029;0.036;0.036	B;B;B	0.16722	0.009;0.016;0.011	T	0.19353	-1.0308	10	0.62326	D	0.03	-1.9937	0.1007	0.00048	0.3218:0.2234:0.2107:0.2441	.	25;44;44	E9PG36;Q494Z0;Q6X9E4	.;.;FBW12_HUMAN	L	44;25;44	ENSP00000296438:S44L;ENSP00000406139:S25L;ENSP00000414683:S44L	ENSP00000296438:S44L	S	+	2	0	FBXW12	48390044	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.409000	0.02483	-2.025000	0.00935	-0.259000	0.10710	TCA	FBXW12	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like		0.493	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	HGNC	protein_coding	OTTHUMT00000257505.1	C	NM_207102		48415040	1	no_errors	ENST00000296438	ensembl	human	known	70_37	missense	SNP	0.000	T	T	48415040	C	T	48415040	3	4	168	1	0	0	0	0	1	0	0	0	5783	838	29	1	178	1	FBXW12	3	48415040	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	7841266	48415040	149607390	97	31814										
ATRIP	84126	genome.wustl.edu	37	chr3	48502116	48502116	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tctcttctgcagcaacaggtCaccttcaagccagtgtcctg	8	14	4	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:48502116C>G	ENST00000320211.3	+	8	1776	c.1663C>G	c.(1663-1665)Cac>Gac	p.H555D	ATRIP_ENST00000346691.4_Missense_Mutation_p.H555D|ATRIP_ENST00000357105.6_Missense_Mutation_p.H428D|ATRIP_ENST00000412052.1_Missense_Mutation_p.H462D	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	555					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCAACAGGTCACCTTCAAGC	0.493								Other conserved DNA damage response genes																																									0													78	73	75					3																	48502116		2203	4300	6503	SO:0001583	missense	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1663C>G	3.37:g.48502116C>G	ENSP00000323099:p.His555Asp		A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.H555D	ENST00000320211.3	37	c.1663	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460234	0.43736	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.62788	2.87;-0.0;2.87;2.87	6.17	3.29	0.37713	.	0.463619	0.26112	N	0.026264	T	0.58061	0.2096	M	0.62723	1.935	0.28076	N	0.93237	P;P	0.38504	0.634;0.634	B;B	0.41988	0.372;0.372	T	0.53542	-0.8424	9	.	.	.	-0.3082	6.8118	0.23809	0.1437:0.7039:0.0:0.1524	.	555;555	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	D	555;555;428;462	ENSP00000323099:H555D;ENSP00000302338:H555D;ENSP00000349620:H428D;ENSP00000400930:H462D	.	H	+	1	0	ATRIP	48477120	0.666000	0.27475	0.469000	0.27204	0.962000	0.63368	2.045000	0.41250	0.935000	0.37341	0.655000	0.94253	CAC	ATRIP	-	NULL		0.493	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	C	NM_130384		48502116	1	no_errors	ENST00000320211	ensembl	human	known	70_37	missense	SNP	0.301	G	G	48502116	C	G	48502116	3	3	168	1	0	0	0	0	1	0	0	0	1206	826	29	1	1693	1	ATRIP	3	48502116	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	87076	48502116	149520314	98	31815										
QARS	5859	genome.wustl.edu	37	chr3	49138860	49138860	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	attccattgggttctggcggGaaccgggtacgtacctaaaa	12	9	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49138860G>A	ENST00000306125.6	-	10	1141	c.804C>T	c.(802-804)ttC>ttT	p.F268F	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_Missense_Mutation_p.P258S|QARS_ENST00000414533.1_Silent_p.F257F			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	268					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTTCTGGCGGGAACCGGGTAC	0.473																																																	0													120	112	115					3																	49138860		2203	4300	6503	SO:0001819	synonymous_variant	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.804C>T	3.37:g.49138860G>A			B4DWJ2	Missense_Mutation	SNP	pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Gln-tRNA-synth_Ib_RNA-bd_2	p.P258S	ENST00000306125.6	37	c.772	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764395	0.69878	.	.	ENSG00000172053	ENST00000420147	.	.	.	5.73	2.99	0.34606	.	.	.	.	.	T	0.72104	0.3419	.	.	.	0.38059	D	0.936024	D	0.89917	1.0	D	0.91635	0.999	T	0.72301	-0.4334	7	0.45353	T	0.12	-8.7065	10.3502	0.43931	0.2127:0.0:0.7873:0.0	.	258	B7Z840	.	S	258	.	ENSP00000399119:P258S	P	-	1	0	QARS	49113864	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.488000	0.35551	0.358000	0.24211	0.655000	0.94253	CCC	QARS	-	NULL		0.473	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	G	NM_005051		49138860	-1	no_errors	ENST00000420147	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49138860	G	A	49138860	2	1	168	1	0	0	0	0	0	0	0	1	12901	1165	41	1		1	QARS	3	49138860	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	636744	49138860	148883570	99	31816										
USP19	10869	genome.wustl.edu	37	chr3	49152994	49152994	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggcagacacaccttcttctCttcctcttcctcctcctcca	3	19	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49152994C>G	ENST00000398888.2	-	11	1780	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	USP19_ENST00000434032.2_Missense_Mutation_p.E589Q|USP19_ENST00000453664.1_Missense_Mutation_p.E579Q|USP19_ENST00000398898.2_Missense_Mutation_p.E528Q|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_Missense_Mutation_p.E528Q|USP19_ENST00000417901.1_Missense_Mutation_p.E591Q|USP19_ENST00000398896.1_Missense_Mutation_p.E296Q	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	488					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		Accttcttctcttcctcttcc	0.547																																																	0													45	50	48					3																	49152994		2189	4290	6479	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1462G>C	3.37:g.49152994C>G	ENSP00000381863:p.Glu488Gln		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.E488Q	ENST00000398888.2	37	c.1462	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292604	0.80914	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.21932	2.02;1.99;2.08;2.09;1.98;2.11;2.08	5.92	5.92	0.95590	Domain of unknown function DUF1872 (1);	0.181349	0.52532	D	0.000079	T	0.41627	0.1167	L	0.43152	1.355	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.947;1.0;0.998;0.995;0.999;0.991;0.975	P;D;D;P;D;P;P	0.91635	0.805;0.999;0.914;0.873;0.996;0.881;0.776	T	0.01814	-1.1268	10	0.37606	T	0.19	-21.211	19.9031	0.96996	0.0:1.0:0.0:0.0	.	654;589;579;488;528;574;296	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	Q	296;528;591;579;528;488;589	ENSP00000381870:E296Q;ENSP00000381872:E528Q;ENSP00000395260:E591Q;ENSP00000400090:E579Q;ENSP00000381867:E528Q;ENSP00000381863:E488Q;ENSP00000401197:E589Q	ENSP00000381863:E488Q	E	-	1	0	USP19	49127998	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.149000	0.77396	2.795000	0.96236	0.655000	0.94253	GAG	USP19	-	pfam_DUF1872		0.547	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677		49152994	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49152994	C	G	49152994	3	3	168	1	0	0	0	0	1	0	0	0	17081	922	32	1	2558	1	USP19	3	49152994	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	14134	49152994	148869436	100	31817										
USP19	10869	genome.wustl.edu	37	chr3	49153054	49153054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gctgtggggcatgggaggcaCcatgcatgtaggcttgggct	18	8	0	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49153054C>T	ENST00000398888.2	-	11	1720	c.1402G>A	c.(1402-1404)Gtg>Atg	p.V468M	USP19_ENST00000434032.2_Missense_Mutation_p.V569M|USP19_ENST00000453664.1_Missense_Mutation_p.V559M|USP19_ENST00000398898.2_Missense_Mutation_p.V508M|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_Missense_Mutation_p.V508M|USP19_ENST00000417901.1_Missense_Mutation_p.V571M|USP19_ENST00000398896.1_Missense_Mutation_p.V276M	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	468					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGGGAGGCACCATGCATGTA	0.567																																																	0													29	32	31					3																	49153054		2179	4284	6463	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1402G>A	3.37:g.49153054C>T	ENSP00000381863:p.Val468Met		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.V468M	ENST00000398888.2	37	c.1402	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947587	0.73787	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	T;T;T;T;T;T;T;T	0.57107	1.95;1.89;1.99;1.99;1.89;2.03;1.99;0.42	5.92	5.92	0.95590	Domain of unknown function DUF1872 (1);	3.448150	0.00769	N	0.001188	T	0.76730	0.4028	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;1.0;1.0;0.999;0.999;1.0;0.999	T	0.59332	-0.7474	10	0.87932	D	0	-15.4363	19.9031	0.96996	0.0:1.0:0.0:0.0	.	634;569;559;468;508;554;276	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	M	276;508;571;559;508;468;569;556	ENSP00000381870:V276M;ENSP00000381872:V508M;ENSP00000395260:V571M;ENSP00000400090:V559M;ENSP00000381867:V508M;ENSP00000381863:V468M;ENSP00000401197:V569M;ENSP00000303503:V556M	ENSP00000303503:V556M	V	-	1	0	USP19	49128058	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.673000	0.83973	2.795000	0.96236	0.655000	0.94253	GTG	USP19	-	pfam_DUF1872		0.567	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677		49153054	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49153054	C	T	49153054	3	4	168	1	0	0	0	0	1	0	0	0	17081	507	18	4	2618	4	USP19	3	49153054	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	60	49153054	148869376	101	31818										
MST1R	4486	genome.wustl.edu	37	chr3	49924830	49924830	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggctgttctggacgcacattCatctcatgcgaggtgctggg	14	10	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49924830C>A	ENST00000296474.3	-	20	4140	c.4113G>T	c.(4111-4113)atG>atT	p.M1371I	MST1R_ENST00000344206.4_Missense_Mutation_p.M1322I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1371					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACGCACATTCATCTCATGCG	0.587																																																	0													133	119	124					3																	49924830		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4113G>T	3.37:g.49924830C>A	ENSP00000296474:p.Met1371Ile		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M1371I	ENST00000296474.3	37	c.4113	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	10.96	1.500005	0.26861	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.72725	-0.68;-0.68	5.08	-4.94	0.03057	.	1.811800	0.02594	N	0.100298	T	0.52805	0.1757	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.37291	-0.9712	10	0.20519	T	0.43	0.048	9.8675	0.41152	0.0:0.5522:0.3385:0.1093	.	1371	Q04912	RON_HUMAN	I	1371;1322	ENSP00000296474:M1371I;ENSP00000341325:M1322I	ENSP00000296474:M1371I	M	-	3	0	MST1R	49899834	.	.	0.000000	0.03702	0.053000	0.15095	.	.	-0.955000	0.03636	0.655000	0.94253	ATG	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt		0.587	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49924830	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	0.000	A	A	49924830	C	A	49924830	3	1	168	1	0	0	0	0	1	0	0	0	9914	826	29	3	93	3	MST1R	3	49924830	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	771776	49924830	148097600	102	31819										
MST1R	4486	genome.wustl.edu	37	chr3	49924919	49924919	+	Missense_Mutation	SNP	C	C	G													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagtgcagacactatctgctCcacctcccccactagtactc							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49924919C>G	ENST00000296474.3	-	20	4051	c.4024G>C	c.(4024-4026)Gag>Cag	p.E1342Q	MST1R_ENST00000344206.4_Missense_Mutation_p.E1293Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACTATCTGCTCCACCTCCCCC	0.572																																																	0													94	84	87					3																	49924919		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4024G>C	3.37:g.49924919C>G	ENSP00000296474:p.Glu1342Gln		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1342Q	ENST00000296474.3	37	c.4024	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146567	0.21288	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.35421	1.31;1.31	5.91	5.03	0.67393	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.288156	0.39475	N	0.001353	T	0.20333	0.0489	L	0.31804	0.96	0.26944	N	0.966188	P	0.48998	0.918	B	0.33620	0.167	T	0.12243	-1.0555	10	0.27785	T	0.31	-16.5245	9.3813	0.38316	0.1425:0.7833:0.0:0.0742	.	1342	Q04912	RON_HUMAN	Q	1342;1293	ENSP00000296474:E1342Q;ENSP00000341325:E1293Q	ENSP00000296474:E1342Q	E	-	1	0	MST1R	49899923	0.151000	0.22747	0.174000	0.22961	0.392000	0.30506	1.469000	0.35343	1.485000	0.48380	0.655000	0.94253	GAG	MST1R	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom		0.572	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49924919	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	0.587	G	G	49924919	C	G	49924919	3	3	168	1	0	0	0	0	1	0	0	0	9914	864	30	1	182	1	MST1R	3	49924919	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	89	49924919	148097511	103	31820	208	2								
MST1R	4486	genome.wustl.edu	37	chr3	49924925	49924925	+	Nonsense_Mutation	SNP	C	C	A													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agacactatctgctccacctCccccactagtactctgaagg							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:49924925C>A	ENST00000296474.3	-	20	4045	c.4018G>T	c.(4018-4020)Gag>Tag	p.E1340*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.E1291*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1340	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTCCACCTCCCCCACTAGT	0.557																																																	0													89	81	84					3																	49924925		2203	4300	6503	SO:0001587	stop_gained	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4018G>T	3.37:g.49924925C>A	ENSP00000296474:p.Glu1340*		B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1340*	ENST00000296474.3	37	c.4018	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.674727	0.97751	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	.	.	.	5.91	5.91	0.95273	.	0.094616	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-10.3433	12.4051	0.55434	0.0:0.9224:0.0:0.0776	.	.	.	.	X	1340;1291	.	ENSP00000296474:E1340X	E	-	1	0	MST1R	49899929	0.950000	0.32346	0.980000	0.43619	0.286000	0.27126	3.256000	0.51492	2.813000	0.96785	0.655000	0.94253	GAG	MST1R	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom		0.557	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49924925	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	49924925	C	A	49924925	4	1	168	1	0	0	0	0	0	1	0	0	9914	864	30	3	188	3	MST1R	3	49924925	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6	49924925	148097505	104	31821	208	2								
TWF2	11344	genome.wustl.edu	37	chr3	52263189	52263189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cgtcgtagaggaactctgccGtcagctctgccccatcgcca	10	16	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:52263189G>A	ENST00000305533.5	-	9	1154	c.911C>T	c.(910-912)aCg>aTg	p.T304M	TLR9_ENST00000597542.1_Intron|TLR9_ENST00000494383.1_Intron|TWF2_ENST00000499914.2_3'UTR	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	304	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAACTCTGCCGTCAGCTCTGC	0.642																																																	0													104	92	96					3																	52263189		2203	4300	6503	SO:0001583	missense	11344			Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.911C>T	3.37:g.52263189G>A	ENSP00000303908:p.Thr304Met		Q9Y3F5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.T304M	ENST00000305533.5	37	c.911	CCDS2849.1	3	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825059	0.90955	.	.	ENSG00000247596	ENST00000305533	T	0.35236	1.32	5.04	5.04	0.67666	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.67767	0.2928	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75684	-0.3232	9	0.87932	D	0	.	18.3781	0.90441	0.0:0.0:1.0:0.0	.	304	Q6IBS0	TWF2_HUMAN	M	304	ENSP00000303908:T304M	ENSP00000303908:T304M	T	-	2	0	TWF2	52238229	1.000000	0.71417	0.966000	0.40874	0.912000	0.54170	9.824000	0.99380	2.333000	0.79357	0.561000	0.74099	ACG	TWF2	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin		0.642	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWF2	HGNC	protein_coding	OTTHUMT00000350199.2	G			52263189	-1	no_errors	ENST00000305533	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52263189	G	A	52263189	3	1	168	1	0	0	0	0	1	0	0	0	16813	1145	40	2	142	2	TWF2	3	52263189	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2338264	52263189	145759241	105	31822										
STAB1	23166	genome.wustl.edu	37	chr3	52553336	52553336	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agcagcgaccatgaggccgtGaacggcatcctgcacttcat	11	13	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:52553336G>C	ENST00000321725.6	+	49	5167	c.5091G>C	c.(5089-5091)gtG>gtC	p.V1697V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1697	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGAGGCCGTGAACGGCATCC	0.642																																																	0													128	129	129					3																	52553336		2203	4299	6502	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5091G>C	3.37:g.52553336G>C			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.V1697	ENST00000321725.6	37	c.5091	CCDS33768.1	3																																																																																			STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136		52553336	1	no_errors	ENST00000321725	ensembl	human	known	70_37	silent	SNP	0.996	C	C	52553336	G	C	52553336	2	2	168	1	0	0	0	0	0	0	0	1	15267	1277	45	1		1	STAB1	3	52553336	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	290147	52553336	145469094	106	31823										
STAB1	23166	genome.wustl.edu	37	chr3	52553417	52553417	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cctgatgatgctcccatcccGagggtatgacaagcacgggc	12	13	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:52553417G>A	ENST00000321725.6	+	49	5248	c.5172G>A	c.(5170-5172)ccG>ccA	p.P1724P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1724	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTCCCATCCCGAGGGTATGAC	0.637																																																	0													82	84	83					3																	52553417		2203	4300	6503	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5172G>A	3.37:g.52553417G>A			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.P1724	ENST00000321725.6	37	c.5172	CCDS33768.1	3																																																																																			STAB1	-	superfamily_FAS1_domain,pfscan_FAS1_domain		0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136		52553417	1	no_errors	ENST00000321725	ensembl	human	known	70_37	silent	SNP	0.000	A	A	52553417	G	A	52553417	2	1	168	1	0	0	0	0	0	0	0	1	15267	1045	37	1		1	STAB1	3	52553417	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	81	52553417	145469013	107	31824										
SFMBT1	51460	genome.wustl.edu	37	chr3	52939266	52939266	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgaacagtgggaagggtaagGagcaacagggcctgcccatc	15	9	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:52939266G>A	ENST00000394752.3	-	21	2869	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L	SFMBT1_ENST00000358080.2_Silent_p.L829L|SFMBT1_ENST00000296295.6_Silent_p.L786L|SFMBT1_ENST00000394750.1_Silent_p.L829L	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	829	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GAAGGGTAAGGAGCAACAGGG	0.438																																																	0													90	79	83					3																	52939266		2203	4300	6503	SO:0001819	synonymous_variant	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2487C>T	3.37:g.52939266G>A			Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.L829	ENST00000394752.3	37	c.2487	CCDS2867.1	3																																																																																			SFMBT1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.438	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	G	NM_016329		52939266	-1	no_errors	ENST00000358080	ensembl	human	known	70_37	silent	SNP	1.000	A	A	52939266	G	A	52939266	2	1	168	1	0	0	0	0	0	0	0	1	14187	1161	41	1		1	SFMBT1	3	52939266	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	385849	52939266	145083164	108	31825										
LMOD3	56203	genome.wustl.edu	37	chr3	69171455	69171455	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gttctttcagttcttcagcaGacaagttggccaagatttca	8	9	5	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:69171455G>A	ENST00000420581.2	-	1	262	c.83C>T	c.(82-84)tCt>tTt	p.S28F	LMOD3_ENST00000475434.1_Missense_Mutation_p.S28F|LMOD3_ENST00000489031.1_Missense_Mutation_p.S28F	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	28						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTCTTCAGCAGACAAGTTGGC	0.418																																																	0													61	58	59					3																	69171455		1863	4104	5967	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.83C>T	3.37:g.69171455G>A	ENSP00000414670:p.Ser28Phe		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	pfam_Tropomodulin	p.S28F	ENST00000420581.2	37	c.83	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367360	0.82463	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.37752	1.18;1.18;1.18	5.59	5.59	0.84812	.	0.104278	0.64402	D	0.000002	T	0.68622	0.3021	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74515	-0.3640	10	0.87932	D	0	-18.1741	19.585	0.95487	0.0:0.0:1.0:0.0	.	28	Q0VAK6	LMOD3_HUMAN	F	28	ENSP00000414670:S28F;ENSP00000417210:S28F;ENSP00000418645:S28F	ENSP00000414670:S28F	S	-	2	0	LMOD3	69254145	1.000000	0.71417	0.981000	0.43875	0.594000	0.36715	9.869000	0.99810	2.646000	0.89796	0.591000	0.81541	TCT	LMOD3	-	pfam_Tropomodulin		0.418	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1	G	XM_067529		69171455	-1	no_errors	ENST00000420581	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69171455	G	A	69171455	3	1	168	1	0	0	0	0	1	0	0	0	8879	942	33	1	1611	1	LMOD3	3	69171455	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	16232189	69171455	128850975	109	31826										
GOLGB1	2804	genome.wustl.edu	37	chr3	121416703	121416703	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtttccacatctctctttttCtctagtaagagctgatccat	5	11	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:121416703C>G	ENST00000340645.5	-	13	2777	c.2652G>C	c.(2650-2652)gaG>gaC	p.E884D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E889D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	884					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTCTTTTTCTCTAGTAAGA	0.403																																																	0													161	166	164					3																	121416703		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2652G>C	3.37:g.121416703C>G	ENSP00000341848:p.Glu884Asp		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E884D	ENST00000340645.5	37	c.2652	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.763331|1.763331	0.31228|0.31228	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25579|.	2.38;2.38;1.79|.	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.53981|0.53981	0.1830|0.1830	L|L	0.48362|0.48362	1.52|1.52	0.33411|0.33411	D|D	0.578585|0.578585	P;P;P;P;P|.	0.48503|.	0.675;0.782;0.911;0.604;0.554|.	B;B;B;B;B|.	0.42030|.	0.273;0.366;0.373;0.269;0.231|.	T|T	0.64050|0.64050	-0.6498|-0.6498	10|5	0.28530|.	T|.	0.3|.	.|.	11.8551|11.8551	0.52433|0.52433	0.0:0.9162:0.0:0.0838|0.0:0.9162:0.0:0.0838	.|.	809;848;889;889;884|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	D|T	884;889;848;696|755	ENSP00000341848:E884D;ENSP00000377275:E889D;ENSP00000418231:E848D|.	ENSP00000341848:E884D|.	E|R	-|-	3|2	2|0	GOLGB1|GOLGB1	122899393|122899393	0.972000|0.972000	0.33761|0.33761	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	0.794000|0.794000	0.26958|0.26958	1.497000|1.497000	0.48584|0.48584	0.655000|0.655000	0.94253|0.94253	GAG|AGA	GOLGB1	-	NULL		0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121416703	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.974	G	G	121416703	C	G	121416703	3	3	168	1	0	0	0	0	1	0	0	0	6584	912	32	1	7167	1	GOLGB1	3	121416703	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	52245248	121416703	76605727	110	31827										
DIRC2	84925	genome.wustl.edu	37	chr3	122545733	122545733	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tctctctacgacgtggttttCtgcagatgaaagggccacag	11	10	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:122545733C>G	ENST00000261038.5	+	3	922	c.524C>G	c.(523-525)tCt>tGt	p.S175C		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	175					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ACGTGGTTTTCTGCAGATGAA	0.438																																																	0													154	147	149					3																	122545733		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.524C>G	3.37:g.122545733C>G	ENSP00000261038:p.Ser175Cys		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S175C	ENST00000261038.5	37	c.524	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812907	0.90707	.	.	ENSG00000138463	ENST00000261038	T	0.60548	0.18	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.249179	0.47852	D	0.000205	T	0.59059	0.2166	N	0.22421	0.69	0.58432	D	0.999998	P	0.47962	0.903	P	0.52386	0.697	T	0.59043	-0.7528	10	0.49607	T	0.09	.	19.3094	0.94179	0.0:1.0:0.0:0.0	.	175	Q96SL1	DIRC2_HUMAN	C	175	ENSP00000261038:S175C	ENSP00000261038:S175C	S	+	2	0	DIRC2	124028423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.193000	0.77780	2.810000	0.96702	0.650000	0.86243	TCT	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.438	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122545733	1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122545733	C	G	122545733	3	3	168	1	0	0	0	0	1	0	0	0	4544	913	32	1	534	1	DIRC2	3	122545733	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1129030	122545733	75476697	111	31828										
KALRN	8997	genome.wustl.edu	37	chr3	124045013	124045013	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgtgttccaccagaaggctGagcaggtaaggtgcagaaac	13	9	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:124045013G>A	ENST00000240874.3	+	7	1430	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	KALRN_ENST00000360013.3_Missense_Mutation_p.E425K|KALRN_ENST00000460856.1_Missense_Mutation_p.E425K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	425					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCAGAAGGCTGAGCAGGTAAG	0.597																																																	0													65	48	53					3																	124045013		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1273G>A	3.37:g.124045013G>A	ENSP00000240874:p.Glu425Lys		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E425K	ENST00000240874.3	37	c.1273	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202836	0.79127	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.62232	0.62;0.54;0.04	4.89	4.89	0.63831	.	0.206952	0.39615	N	0.001311	T	0.59756	0.2217	L	0.47716	1.5	0.80722	D	1	B;B;B	0.14438	0.006;0.0;0.01	B;B;B	0.22753	0.018;0.001;0.041	T	0.58075	-0.7700	10	0.54805	T	0.06	.	18.6024	0.91253	0.0:0.0:1.0:0.0	.	425;425;425	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	K	425	ENSP00000418611:E425K;ENSP00000240874:E425K;ENSP00000353109:E425K	ENSP00000240874:E425K	E	+	1	0	KALRN	125527703	1.000000	0.71417	0.933000	0.37362	0.878000	0.50629	7.712000	0.84684	2.709000	0.92574	0.655000	0.94253	GAG	KALRN	-	smart_Spectrin/alpha-actinin		0.597	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	G	NM_003947		124045013	1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124045013	G	A	124045013	3	1	168	1	0	0	0	0	1	0	0	0	7995	1291	45	1	1299	1	KALRN	3	124045013	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1499280	124045013	73977417	112	31829										
KLF15	28999	genome.wustl.edu	37	chr3	126071245	126071245	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggctcttgtgtggcccagctGagagctggctgcaggcatcc	15	12	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:126071245G>A	ENST00000296233.3	-	2	751	c.521C>T	c.(520-522)tCa>tTa	p.S174L	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	174					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGGCCCAGCTGAGAGCTGGCT	0.622																																																	0													41	46	44					3																	126071245		2203	4300	6503	SO:0001583	missense	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.521C>T	3.37:g.126071245G>A	ENSP00000296233:p.Ser174Leu			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S174L	ENST00000296233.3	37	c.521	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289056	0.23478	.	.	ENSG00000163884	ENST00000296233	T	0.08546	3.08	4.25	2.44	0.29823	.	0.478642	0.23868	N	0.043761	T	0.09335	0.0230	L	0.59436	1.845	0.09310	N	1	B	0.24186	0.099	B	0.27608	0.081	T	0.21449	-1.0245	10	0.46703	T	0.11	.	6.6755	0.23092	0.3123:0.0:0.6877:0.0	.	174	Q9UIH9	KLF15_HUMAN	L	174	ENSP00000296233:S174L	ENSP00000296233:S174L	S	-	2	0	KLF15	127553935	0.989000	0.36119	0.493000	0.27502	0.800000	0.45204	2.878000	0.48515	0.512000	0.28257	-0.339000	0.08088	TCA	KLF15	-	NULL		0.622	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	G	NM_014079		126071245	-1	no_errors	ENST00000296233	ensembl	human	known	70_37	missense	SNP	0.005	A	A	126071245	G	A	126071245	3	1	168	1	0	0	0	0	1	0	0	0	8363	1294	45	1	737	1	KLF15	3	126071245	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2026232	126071245	71951185	113	31830										
C3orf27	23434	genome.wustl.edu	37	chr3	128292326	128292326	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cctgagctcgtcatctctctCtctctctctcaccatgtcaa	4	17	7	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:128292326C>G	ENST00000356020.2	-	3	1213	c.247G>C	c.(247-249)Gag>Cag	p.E83Q		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	83										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TCATCTCTCTCTCTCTCTCTC	0.602																																																	0													65	69	68					3																	128292326		2203	4300	6503	SO:0001583	missense	23434			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.247G>C	3.37:g.128292326C>G	ENSP00000348302:p.Glu83Gln			Missense_Mutation	SNP	NULL	p.E83Q	ENST00000356020.2	37	c.247	CCDS3050.1	3	.	.	.	.	.	.	.	.	.	.	C	9.903	1.207526	0.22205	.	.	ENSG00000198685	ENST00000356020	.	.	.	0.886	0.886	0.19194	.	.	.	.	.	T	0.25121	0.0610	N	0.08118	0	0.09310	N	1	P	0.42039	0.769	P	0.49332	0.607	T	0.13522	-1.0506	8	0.87932	D	0	.	5.1436	0.14973	0.0:1.0:0.0:0.0	.	83	O15544	GR6_HUMAN	Q	83	.	ENSP00000348302:E83Q	E	-	1	0	C3orf27	129775016	0.000000	0.05858	0.040000	0.18447	0.316000	0.28119	-0.210000	0.09345	0.757000	0.33036	0.306000	0.20318	GAG	C3orf27	-	NULL		0.602	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	HGNC	protein_coding	OTTHUMT00000356924.1	C	NM_007354		128292326	-1	no_errors	ENST00000356020	ensembl	human	known	70_37	missense	SNP	0.047	G	G	128292326	C	G	128292326	3	3	168	1	0	0	0	0	1	0	0	0	2224	922	32	1	206	1	C3orf27	3	128292326	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2221081	128292326	69730104	114	31831										
COL6A6	131873	genome.wustl.edu	37	chr3	130300620	130300620	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaaaatattctcccaagtttGagatctacagtgaaaacata	5	7	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:130300620G>C	ENST00000358511.6	+	8	3794	c.3763G>C	c.(3763-3765)Gag>Cag	p.E1255Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1255Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1255	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCCAAGTTTGAGATCTACAG	0.423																																																	0													122	119	120					3																	130300620		1922	4116	6038	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3763G>C	3.37:g.130300620G>C	ENSP00000351310:p.Glu1255Gln		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E1255Q	ENST00000358511.6	37	c.3763	CCDS46911.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.07|14.07	2.425842|2.425842	0.43020|0.43020	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000358511;ENST00000453409|ENST00000511332	T;T|.	0.37235|.	1.21;1.21|.	6.06|6.06	5.14|5.14	0.70334|0.70334	von Willebrand factor, type A (2);|.	.|.	.|.	.|.	.|.	T|T	0.49695|0.49695	0.1572|0.1572	L|L	0.39633|0.39633	1.23|1.23	0.34059|0.34059	D|D	0.657028|0.657028	P|.	0.38535|.	0.635|.	B|.	0.31495|.	0.131|.	T|T	0.57177|0.57177	-0.7856|-0.7856	9|5	0.17369|.	T|.	0.5|.	.|.	9.2765|9.2765	0.37703|0.37703	0.0764:0.1474:0.7762:0.0|0.0764:0.1474:0.7762:0.0	.|.	1255|.	A6NMZ7|.	CO6A6_HUMAN|.	Q|F	1255|12	ENSP00000351310:E1255Q;ENSP00000399236:E1255Q|.	ENSP00000351310:E1255Q|.	E|L	+|+	1|3	0|2	COL6A6|COL6A6	131783310|131783310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.800000|0.800000	0.27042|0.27042	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAG|TTG	COL6A6	-	smart_VWF_A,pfscan_VWF_A		0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	G	NM_001102608		130300620	1	no_errors	ENST00000358511	ensembl	human	known	70_37	missense	SNP	1.000	C	C	130300620	G	C	130300620	3	2	168	1	0	0	0	0	1	0	0	0	3708	1291	45	1	3793	1	COL6A6	3	130300620	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2008294	130300620	67721810	115	31832										
UBA5	79876	genome.wustl.edu	37	chr3	132395370	132395370	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gccaaaatgaagaatatgtaGataatggactgggatatatt	10	3	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:132395370G>C	ENST00000356232.4	+	12	2287	c.1215G>C	c.(1213-1215)taG>taC	p.*405Y	UBA5_ENST00000473651.1_3'UTR|UBA5_ENST00000494238.2_Nonstop_Mutation_p.*349Y|UBA5_ENST00000493720.2_Intron|UBA5_ENST00000264991.4_Nonstop_Mutation_p.*349Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	0					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGAATATGTAGATAATGGACT	0.328																																																	0													87	87	87					3																	132395370		2203	4300	6503	SO:0001578	stop_lost	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.1215G>C	3.37:g.132395370G>C	ENSP00000348565:p.*405Tyrext*12		A6NJL3|D3DNC8|Q96ST1	Nonstop_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.*405Y	ENST00000356232.4	37	c.1215	CCDS3076.1	3	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968904	0.53614	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000494238	.	.	.	5.74	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8712	0.46885	0.2781:0.0:0.7219:0.0	.	.	.	.	Y	349;405;349	.	.	X	+	3	2	UBA5	133878060	0.986000	0.35501	0.958000	0.39756	0.726000	0.41606	1.725000	0.38074	0.410000	0.25675	0.563000	0.77884	TAG	UBA5	-	NULL		0.328	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA5	HGNC	protein_coding	OTTHUMT00000357187.2	G	NM_024818		132395370	1	no_errors	ENST00000356232	ensembl	human	known	70_37	nonstop	SNP	0.922	C	C	132395370	G	C	132395370	4	2	168	1	0	0	0	0	0	0	0	0	16861	937	33	1	1261	1	UBA5	3	132395370	Nonstop_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2094750	132395370	65627060	116	31833										
TF	7018	genome.wustl.edu	37	chr3	133478068	133478068	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cctgtgaagtggtgtgcgctGagccaccacgagaggctcaa	14	11	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:133478068G>A	ENST00000402696.3	+	9	1583	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	TF_ENST00000264998.3_Silent_p.L239L	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	366	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GGTGTGCGCTGAGCCACCACG	0.507																																																	0													167	163	165					3																	133478068		2203	4300	6503	SO:0001819	synonymous_variant	7018				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1098G>A	3.37:g.133478068G>A			O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.L366	ENST00000402696.3	37	c.1098	CCDS3080.1	3																																																																																			TF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin		0.507	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	G	NM_001063		133478068	1	no_errors	ENST00000402696	ensembl	human	known	70_37	silent	SNP	0.000	A	A	133478068	G	A	133478068	2	1	168	1	0	0	0	0	0	0	0	1	15815	1277	45	1		1	TF	3	133478068	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1082698	133478068	64544362	117	31834										
ARMC8	25852	genome.wustl.edu	37	chr3	137983011	137983011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagatctgtgcagcagcttcGaaccagtttccaggatcatg	10	11	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:137983011G>A	ENST00000469044.1	+	14	1527	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	ARMC8_ENST00000538260.1_Missense_Mutation_p.R388Q|ARMC8_ENST00000491704.1_Missense_Mutation_p.R377Q|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.R352Q|ARMC8_ENST00000485396.1_Missense_Mutation_p.R346Q|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000481646.1_Missense_Mutation_p.R405Q|ARMC8_ENST00000393058.3_Missense_Mutation_p.R409Q	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	419								p.R405Q(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CAGCAGCTTCGAACCAGTTTC	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											112	101	105					3																	137983011		1881	4115	5996	SO:0001583	missense	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1256G>A	3.37:g.137983011G>A	ENSP00000419413:p.Arg419Gln		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R419Q	ENST00000469044.1	37	c.1256		3	.	.	.	.	.	.	.	.	.	.	G	34	5.326414	0.95708	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;1.33;1.33;1.33;-0.15;1.54	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.91249	3.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.962;1.0	D;P;D;B;D	0.72982	0.952;0.895;0.974;0.194;0.979	D	0.86229	0.1636	10	0.59425	D	0.04	-19.7815	17.1328	0.86730	0.0:0.0:1.0:0.0	.	346;352;388;419;405	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	Q	405;419;377;352;346;388;409;313;276	ENSP00000420333:R405Q;ENSP00000419413:R419Q;ENSP00000417304:R377Q;ENSP00000420706:R352Q;ENSP00000417049:R346Q;ENSP00000441592:R388Q;ENSP00000376778:R409Q;ENSP00000417403:R313Q	ENSP00000376778:R409Q	R	+	2	0	ARMC8	139465701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.644000	0.89710	0.561000	0.74099	CGA	ARMC8	-	superfamily_ARM-type_fold,smart_Armadillo		0.388	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	G	NM_015396		137983011	1	no_errors	ENST00000469044	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137983011	G	A	137983011	3	1	168	1	0	0	0	0	1	0	0	0	958	1058	37	1	1334	1	ARMC8	3	137983011	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	4504943	137983011	60039419	118	31835										
ARMC8	25852	genome.wustl.edu	37	chr3	137991869	137991869	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttttacgaagcttgagtactGaacagctattccggttatta	8	7	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:137991869G>A	ENST00000469044.1	+	17	1811	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	ARMC8_ENST00000538260.1_Missense_Mutation_p.E483K|ARMC8_ENST00000491704.1_Missense_Mutation_p.E472K|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.E447K|ARMC8_ENST00000485396.1_Missense_Mutation_p.E441K|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000481646.1_Missense_Mutation_p.E500K|ARMC8_ENST00000393058.3_Missense_Mutation_p.E504K	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	514										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGAGTACTGAACAGCTATT	0.353																																																	0													107	100	102					3																	137991869		1815	4083	5898	SO:0001583	missense	25852				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1540G>A	3.37:g.137991869G>A	ENSP00000419413:p.Glu514Lys		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E514K	ENST00000469044.1	37	c.1540		3	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791356	0.90367	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000539459	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;1.25;1.25;1.25;-0.16	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	N	0.22421	0.69	0.80722	D	1	P;D;P;P;P	0.67145	0.872;0.996;0.921;0.956;0.921	B;D;P;P;P	0.70227	0.396;0.968;0.497;0.899;0.497	T	0.61402	-0.7070	10	0.20519	T	0.43	-9.2901	16.9596	0.86269	0.0:0.0:1.0:0.0	.	441;447;483;514;500	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	K	500;514;472;447;441;483;504;371	ENSP00000420333:E500K;ENSP00000419413:E514K;ENSP00000417304:E472K;ENSP00000420706:E447K;ENSP00000417049:E441K;ENSP00000441592:E483K;ENSP00000376778:E504K	ENSP00000376778:E504K	E	+	1	0	ARMC8	139474559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.824000	0.86668	2.590000	0.87494	0.650000	0.86243	GAA	ARMC8	-	superfamily_ARM-type_fold,smart_Armadillo		0.353	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	G	NM_015396		137991869	1	no_errors	ENST00000469044	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137991869	G	A	137991869	3	1	168	1	0	0	0	0	1	0	0	0	958	1291	45	1	1630	1	ARMC8	3	137991869	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	8858	137991869	60030561	119	31836										
CLSTN2	64084	genome.wustl.edu	37	chr3	140167531	140167531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agacctactctgagaaatccCttcaaaagttatgtggtagg	9	8	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:140167531C>G	ENST00000458420.3	+	6	1148	c.958C>G	c.(958-960)Ctt>Gtt	p.L320V	RP11-68L1.2_ENST00000509191.1_RNA|RP11-68L1.2_ENST00000502712.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	320					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGAGAAATCCCTTCAAAAGTT	0.413										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													102	106	105					3																	140167531		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.958C>G	3.37:g.140167531C>G	ENSP00000402460:p.Leu320Val		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L320V	ENST00000458420.3	37	c.958	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925030	0.73213	.	.	ENSG00000158258	ENST00000458420	T	0.60672	0.17	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.71013	0.3290	M	0.66939	2.045	0.58432	D	0.999998	D	0.67145	0.996	P	0.61070	0.883	T	0.70949	-0.4733	10	0.40728	T	0.16	-0.1129	16.2424	0.82423	0.0:1.0:0.0:0.0	.	320	Q9H4D0	CSTN2_HUMAN	V	320	ENSP00000402460:L320V	ENSP00000402460:L320V	L	+	1	0	CLSTN2	141650221	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.873000	0.63057	2.425000	0.82216	0.561000	0.74099	CTT	CLSTN2	-	NULL		0.413	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	C	NM_022131		140167531	1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140167531	C	G	140167531	3	3	168	1	0	0	0	0	1	0	0	0	3567	681	24	4	980	4	CLSTN2	3	140167531	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2175662	140167531	57854899	120	31837										
ZBTB38	253461	genome.wustl.edu	37	chr3	141161907	141161907	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cgagcactcatacgctgtttCttccgtagctgaagcttaca	8	12	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:141161907C>G	ENST00000514251.1	+	4	956	c.677C>G	c.(676-678)tCt>tGt	p.S226C	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S227C|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S226C					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACGCTGTTTCTTCCGTAGCT	0.532																																																	0													60	60	60					3																	141161907		2105	4230	6335	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.677C>G	3.37:g.141161907C>G	ENSP00000426387:p.Ser226Cys			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S227C	ENST00000514251.1	37	c.680	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029798	0.54790	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.10382	3.35;2.88;2.88;2.88	5.28	5.28	0.74379	.	0.345763	0.28600	N	0.014771	T	0.21103	0.0508	L	0.32530	0.975	0.43029	D	0.994596	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	T	0.01093	-1.1454	9	.	.	.	-10.1427	19.2658	0.93984	0.0:1.0:0.0:0.0	.	227;226	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	C	226;226;226;227	ENSP00000424254:S226C;ENSP00000426387:S226C;ENSP00000406955:S226C;ENSP00000372635:S227C	.	S	+	2	0	ZBTB38	142644597	0.983000	0.35010	0.024000	0.17045	0.274000	0.26718	5.321000	0.65846	2.611000	0.88343	0.591000	0.81541	TCT	ZBTB38	-	NULL		0.532	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	C			141161907	1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	0.725	G	G	141161907	C	G	141161907	3	3	168	1	0	0	0	0	1	0	0	0	17569	913	32	1	679	1	ZBTB38	3	141161907	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	994376	141161907	56860523	121	31838										
GRK7	131890	genome.wustl.edu	37	chr3	141497720	141497720	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actgagttcagagtgctgggGaaaggtggttttggggaggt	19	3	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:141497720G>T	ENST00000264952.2	+	1	731	c.594G>T	c.(592-594)ggG>ggT	p.G198G		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GAGTGCTGGGGAAAGGTGGTT	0.468																																																	0													85	85	85					3																	141497720		2203	4300	6503	SO:0001819	synonymous_variant	131890				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.594G>T	3.37:g.141497720G>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.G198	ENST00000264952.2	37	c.594	CCDS3120.1	3																																																																																			GRK7	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.468	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	G	NM_139209		141497720	1	no_errors	ENST00000264952	ensembl	human	known	70_37	silent	SNP	0.136	T	T	141497720	G	T	141497720	2	4	168	1	0	0	0	0	0	0	0	1	6814	1161	41	3		3	GRK7	3	141497720	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	335813	141497720	56524710	122	31839										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	168	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	37438362	178936082	19086348	123	31840										
HES1	3280	genome.wustl.edu	37	chr3	193854273	193854273	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaagacagcatctgagcacaGaaaggtaagggcggtacctg	13	8	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr3:193854273G>A	ENST00000232424.3	+	1	340	c.104G>A	c.(103-105)aGa>aAa	p.R35K		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TCTGAGCACAGAAAGGTAAGG	0.517																																																	0													44	44	44					3																	193854273		2203	4300	6503	SO:0001583	missense	3280			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.104G>A	3.37:g.193854273G>A	ENSP00000232424:p.Arg35Lys		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.R35K	ENST00000232424.3	37	c.104	CCDS3305.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.082559	0.94050	.	.	ENSG00000114315	ENST00000232424	D	0.97924	-4.61	5.04	5.04	0.67666	Helix-loop-helix DNA-binding (4);	0.046546	0.85682	D	0.000000	D	0.98865	0.9616	M	0.88906	2.99	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.988	D	0.99675	1.0997	10	0.87932	D	0	-10.9577	17.1345	0.86735	0.0:0.0:1.0:0.0	.	35;35	B4DU36;Q14469	.;HES1_HUMAN	K	35	ENSP00000232424:R35K	ENSP00000232424:R35K	R	+	2	0	HES1	195336967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.723000	0.91458	2.625000	0.88918	0.655000	0.94253	AGA	HES1	-	pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom		0.517	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES1	HGNC	protein_coding	OTTHUMT00000342632.1	G			193854273	1	no_errors	ENST00000232424	ensembl	human	known	70_37	missense	SNP	1.000	A	A	193854273	G	A	193854273	3	1	168	1	0	0	0	0	1	0	0	0	7085	942	33	1	106	1	HES1	3	193854273	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	14918191	193854273	4168157	124	31841										
DGKQ	1609	genome.wustl.edu	37	chr4	960259	960259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tccacacccactcacctgccGgatgtcctgtagccggtcca	8	18	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:960259G>A	ENST00000273814.3	-	12	1496	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	475	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTCACCTGCCGGATGTCCTGT	0.692																																					Esophageal Squamous(17;537 645 4447 26373)												0													47	48	48					4																	960259		2202	4300	6502	SO:0001583	missense	1609			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1423C>T	4.37:g.960259G>A	ENSP00000273814:p.Arg475Trp		Q6P3W4	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R475W	ENST00000273814.3	37	c.1423	CCDS3342.1	4	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626109	0.66901	.	.	ENSG00000145214	ENST00000273814	T	0.33865	1.39	3.92	3.92	0.45320	Ras-association (3);	0.057395	0.64402	D	0.000008	T	0.53158	0.1779	L	0.58101	1.795	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.55976	-0.8055	10	0.72032	D	0.01	.	11.6279	0.51156	0.0:0.0:1.0:0.0	.	475;475	E9KL49;P52824	.;DGKQ_HUMAN	W	475	ENSP00000273814:R475W	ENSP00000273814:R475W	R	-	1	2	DGKQ	950259	0.960000	0.32886	1.000000	0.80357	0.660000	0.38997	0.521000	0.22893	2.203000	0.70933	0.655000	0.94253	CGG	DGKQ	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.692	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKQ	HGNC	protein_coding	OTTHUMT00000200888.1	G			960259	-1	no_errors	ENST00000273814	ensembl	human	known	70_37	missense	SNP	1.000	A	A	960259	G	A	960259	3	1	168	1	0	0	0	0	1	0	0	0	4483	1115	39	2	1453	2	DGKQ	4	960259	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		960259	190194017	125	31842										
TADA2B	93624	genome.wustl.edu	37	chr4	7045505	7045505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cgctctgggggcccgaggccGagggcggctggaccagtcgc	19	14	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:7045505G>A	ENST00000310074.7	+	1	388	c.199G>A	c.(199-201)Gag>Aag	p.E67K	RP11-367J11.2_ENST00000500031.1_RNA|CCDC96_ENST00000310085.4_5'Flank|TADA2B_ENST00000512388.1_Intron	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	67	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GCCCGAGGCCGAGGGCGGCTG	0.736																																																	0													8	10	9					4																	7045505		1868	3996	5864	SO:0001583	missense	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.199G>A	4.37:g.7045505G>A	ENSP00000308022:p.Glu67Lys		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.E67K	ENST00000310074.7	37	c.199	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	G	2.821	-0.244872	0.05906	.	.	ENSG00000173011	ENST00000310074	T	0.55930	0.49	3.13	1.01	0.19927	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.132610	0.49305	U	0.000157	T	0.38532	0.1044	L	0.52905	1.665	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	T	0.11348	-1.0591	10	0.12103	T	0.63	-21.9866	7.3179	0.26511	0.0:0.1853:0.6243:0.1904	.	67	Q86TJ2	TAD2B_HUMAN	K	67	ENSP00000308022:E67K	ENSP00000308022:E67K	E	+	1	0	TADA2B	7096406	1.000000	0.71417	0.991000	0.47740	0.402000	0.30811	4.900000	0.63252	0.384000	0.24942	-0.516000	0.04426	GAG	TADA2B	-	superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom		0.736	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	G	NM_152293		7045505	1	no_errors	ENST00000310074	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7045505	G	A	7045505	3	1	168	1	0	0	0	0	1	0	0	0	15541	1059	37	1	201	1	TADA2B	4	7045505	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	6085246	7045505	184108771	126	31843										
SLC34A2	10568	genome.wustl.edu	37	chr4	25677984	25677984	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gttggtgtcggggttcccgtCgtcttcatcatcatcctggt	12	11	4	0	rs114501307		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:25677984C>T	ENST00000382051.3	+	13	1736	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	SLC34A2_ENST00000503434.1_Silent_p.V561V|SLC34A2_ENST00000504570.1_Silent_p.V561V	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	562					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGGTTCCCGTCGTCTTCATCA	0.602			T	ROS1	NSCLC								C|||	1	0.000199681	0	0	5008	,	,		15427	0.001		0	False		,,,				2504	0							Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													117	111	113					4																	25677984		2203	4300	6503	SO:0001819	synonymous_variant	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1686C>T	4.37:g.25677984C>T			A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.V562	ENST00000382051.3	37	c.1686	CCDS3435.1	4																																																																																			SLC34A2	-	tigrfam_Na/Pi_transpt		0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	C	NM_006424		25677984	1	no_errors	ENST00000382051	ensembl	human	known	70_37	silent	SNP	0.005	T	T	25677984	C	T	25677984	2	4	168	1	0	0	0	0	0	0	0	1	14598	871	31	1		1	SLC34A2	4	25677984	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	18632479	25677984	165476292	127	31844										
TBC1D1	23216	genome.wustl.edu	37	chr4	38134784	38134784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcaagaagaacttatcgattCctctcctctcagtgacaacc	5	13	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:38134784C>T	ENST00000261439.4	+	19	3567	c.3212C>T	c.(3211-3213)tCc>tTc	p.S1071F	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.S1062F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1071					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTATCGATTCCTCTCCTCTC	0.398																																																	0													131	120	124					4																	38134784		2203	4300	6503	SO:0001583	missense	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3212C>T	4.37:g.38134784C>T	ENSP00000261439:p.Ser1071Phe		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.S1071F	ENST00000261439.4	37	c.3212	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403151	0.83230	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732	T;T	0.04917	3.53;3.93	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000008	T	0.19685	0.0473	L	0.53249	1.67	0.80722	D	1	D;P;P	0.58620	0.983;0.828;0.93	P;B;P	0.60789	0.879;0.44;0.496	T	0.00080	-1.2110	10	0.59425	D	0.04	-13.1108	18.7978	0.92003	0.0:1.0:0.0:0.0	.	1062;803;1071	E9PGH8;Q6PJJ8;Q86TI0	.;.;TBCD1_HUMAN	F	1062;1071;335	ENSP00000423651:S1062F;ENSP00000261439:S1071F	ENSP00000261439:S1071F	S	+	2	0	TBC1D1	37811179	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.767000	0.47637	2.735000	0.93741	0.655000	0.94253	TCC	TBC1D1	-	NULL		0.398	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	C	NM_015173		38134784	1	no_errors	ENST00000261439	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38134784	C	T	38134784	3	4	168	1	0	0	0	0	1	0	0	0	15627	855	30	1	3282	1	TBC1D1	4	38134784	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	12456800	38134784	153019492	128	31845										
N4BP2	55728	genome.wustl.edu	37	chr4	40103779	40103779	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttcacaaagtttcgttgcttCtgagaaccaagtaggtgcag	10	8	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:40103779C>G	ENST00000261435.6	+	4	730	c.314C>G	c.(313-315)tCt>tGt	p.S105C		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	105					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTCGTTGCTTCTGAGAACCAA	0.358																																																	0													85	84	84					4																	40103779		2203	4300	6503	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.314C>G	4.37:g.40103779C>G	ENSP00000261435:p.Ser105Cys		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.S105C	ENST00000261435.6	37	c.314	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308251	0.23821	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.80304	-1.36;-1.36	6.08	4.09	0.47781	.	1.168080	0.06162	N	0.676150	T	0.78496	0.4292	N	0.24115	0.695	0.20821	N	0.999841	D;D	0.67145	0.996;0.993	P;P	0.56216	0.794;0.628	T	0.65463	-0.6162	10	0.51188	T	0.08	-1.5801	5.1683	0.15098	0.0:0.405:0.4615:0.1334	.	105;105	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	C	105;25;25	ENSP00000261435:S105C;ENSP00000422057:S25C	ENSP00000261435:S105C	S	+	2	0	N4BP2	39780174	0.991000	0.36638	0.966000	0.40874	0.751000	0.42716	0.540000	0.23191	1.545000	0.49373	0.591000	0.81541	TCT	N4BP2	-	NULL		0.358	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	C	NM_018177		40103779	1	no_errors	ENST00000261435	ensembl	human	known	70_37	missense	SNP	0.845	G	G	40103779	C	G	40103779	3	3	168	1	0	0	0	0	1	0	0	0	10133	913	32	1	320	1	N4BP2	4	40103779	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1968995	40103779	151050497	129	31846										
N4BP2	55728	genome.wustl.edu	37	chr4	40103848	40103848	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgaagaagagagtgaagattCaaaaatggattcatttttgg	11	2	2	5			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:40103848C>T	ENST00000261435.6	+	4	799	c.383C>T	c.(382-384)tCa>tTa	p.S128L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	128					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGTGAAGATTCAAAAATGGAT	0.373																																																	0													96	93	94					4																	40103848		2203	4300	6503	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.383C>T	4.37:g.40103848C>T	ENSP00000261435:p.Ser128Leu		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.S128L	ENST00000261435.6	37	c.383	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114329	0.56505	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.78924	-1.22;-1.22	5.31	5.31	0.75309	.	0.588554	0.15826	N	0.242750	T	0.68100	0.2964	L	0.32530	0.975	0.09310	N	1	P;P	0.43938	0.822;0.728	B;B	0.41510	0.359;0.196	T	0.64618	-0.6365	10	0.66056	D	0.02	-9.3791	8.4463	0.32843	0.1551:0.7662:0.0:0.0787	.	128;128	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	L	128;48;48	ENSP00000261435:S128L;ENSP00000422057:S48L	ENSP00000261435:S128L	S	+	2	0	N4BP2	39780243	0.030000	0.19436	0.999000	0.59377	0.836000	0.47400	1.798000	0.38814	2.779000	0.95612	0.591000	0.81541	TCA	N4BP2	-	NULL		0.373	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	C	NM_018177		40103848	1	no_errors	ENST00000261435	ensembl	human	known	70_37	missense	SNP	0.027	T	T	40103848	C	T	40103848	3	4	168	1	0	0	0	0	1	0	0	0	10133	838	29	1	389	1	N4BP2	4	40103848	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	69	40103848	151050428	130	31847										
USP46	64854	genome.wustl.edu	37	chr4	53492271	53492271	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagttctggtttattattttCcgcaggttcgttcatgttgc	10	7	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:53492271C>G	ENST00000441222.3	-	4	659	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q	USP46_ENST00000451218.2_Missense_Mutation_p.E132Q|USP46_ENST00000508499.1_Missense_Mutation_p.E152Q	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	159	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTATTATTTTCCGCAGGTTCG	0.388																																																	0													145	133	137					4																	53492271		1832	4108	5940	SO:0001583	missense	64854			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.475G>C	4.37:g.53492271C>G	ENSP00000407818:p.Glu159Gln		B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E159Q	ENST00000441222.3	37	c.475	CCDS47053.1	4	.	.	.	.	.	.	.	.	.	.	C	7.362	0.624960	0.14257	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.31510	1.49;1.49;1.49	4.91	4.91	0.64330	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.450937	0.20280	N	0.095461	T	0.24044	0.0582	N	0.20807	0.61	0.58432	D	0.999999	B;B;B;B	0.18741	0.002;0.0;0.001;0.03	B;B;B;B	0.25614	0.016;0.009;0.009;0.062	T	0.04737	-1.0930	10	0.26408	T	0.33	-21.6328	17.4569	0.87609	0.0:1.0:0.0:0.0	.	43;147;159;152	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	Q	159;132;152	ENSP00000407818:E159Q;ENSP00000390102:E132Q;ENSP00000423244:E152Q	ENSP00000407818:E159Q	E	-	1	0	USP46	53187028	1.000000	0.71417	0.084000	0.20598	0.003000	0.03518	4.337000	0.59310	2.434000	0.82447	0.585000	0.79938	GAA	USP46	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.388	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP46	HGNC	protein_coding	OTTHUMT00000361516.2	C	NM_022832		53492271	-1	no_errors	ENST00000441222	ensembl	human	known	70_37	missense	SNP	0.997	G	G	53492271	C	G	53492271	3	3	168	1	0	0	0	0	1	0	0	0	17108	864	30	1	649	1	USP46	4	53492271	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	13388423	53492271	137662005	131	31848										
FAM13A	10144	genome.wustl.edu	37	chr4	89950737	89950737	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ataggtaaaatccttctgttCatttaatggcactgccacta	6	9	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:89950737C>T	ENST00000264344.5	-	2	298	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000515600.1_Missense_Mutation_p.E31K|FAM13A_ENST00000509094.1_Missense_Mutation_p.E31K|FAM13A_ENST00000511976.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	31					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCCTTCTGTTCATTTAATGGC	0.433																																																	0													163	169	167					4																	89950737		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.91G>A	4.37:g.89950737C>T	ENSP00000264344:p.Glu31Lys		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E31K	ENST00000264344.5	37	c.91	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	C	2.075	-0.412178	0.04799	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600;ENST00000506913	T;T;T;T	0.62941	2.22;2.07;1.91;-0.01	4.14	2.27	0.28462	.	0.490195	0.21094	N	0.080262	T	0.35682	0.0940	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.06405	0.001;0.002	T	0.16424	-1.0403	9	.	.	.	.	8.5195	0.33266	0.0:0.6007:0.3081:0.0911	.	31;31	Q6P521;O94988	.;FA13A_HUMAN	K	31;31;31;41	ENSP00000264344:E31K;ENSP00000426517:E31K;ENSP00000422345:E31K;ENSP00000421269:E41K	.	E	-	1	0	FAM13A	90169760	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	0.728000	0.26013	0.613000	0.30089	0.655000	0.94253	GAA	FAM13A	-	NULL		0.433	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	C			89950737	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	missense	SNP	0.007	T	T	89950737	C	T	89950737	3	4	168	1	0	0	0	0	1	0	0	0	5467	835	29	1	3105	1	FAM13A	4	89950737	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	36458466	89950737	101203539	132	31849										
SPATA5	166378	genome.wustl.edu	37	chr4	123949532	123949532	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttggccaatgagagtggactGaattttctagctataaaggt	11	5	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:123949532G>A	ENST00000274008.4	+	11	2130	c.2061G>A	c.(2059-2061)ctG>ctA	p.L687L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	687					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGTGGACTGAATTTTCTAG	0.453																																																	0													91	88	89					4																	123949532		2203	4300	6503	SO:0001819	synonymous_variant	166378			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2061G>A	4.37:g.123949532G>A			C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.L687	ENST00000274008.4	37	c.2061	CCDS3730.1	4																																																																																			SPATA5	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.453	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	G	NM_145207		123949532	1	no_errors	ENST00000274008	ensembl	human	known	70_37	silent	SNP	0.996	A	A	123949532	G	A	123949532	2	1	168	1	0	0	0	0	0	0	0	1	15041	1277	45	1		1	SPATA5	4	123949532	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	33998795	123949532	67204744	133	31850										
MFSD8	256471	genome.wustl.edu	37	chr4	128865102	128865102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	catttggccaagactatatgAagcaataacccagcccaaaa	6	11	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:128865102A>G	ENST00000296468.3	-	5	371	c.244T>C	c.(244-246)Tca>Cca	p.S82P	MFSD8_ENST00000513559.1_Missense_Mutation_p.S37P|MFSD8_ENST00000541133.1_Missense_Mutation_p.S37P|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	82					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AGACTATATGAAGCAATAACC	0.363																																																	0													159	165	163					4																	128865102		2203	4300	6503	SO:0001583	missense	256471			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.244T>C	4.37:g.128865102A>G	ENSP00000296468:p.Ser82Pro		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S82P	ENST00000296468.3	37	c.244	CCDS3736.1	4	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848360	0.71603	.	.	ENSG00000164073	ENST00000296468;ENST00000513559;ENST00000541133	T;T;T	0.58506	0.33;0.33;0.33	5.36	4.1	0.47936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061236	0.64402	D	0.000003	T	0.67859	0.2938	M	0.68593	2.085	0.42650	D	0.993445	P;D;D	0.53462	0.952;0.96;0.96	P;P;P	0.57846	0.828;0.765;0.664	T	0.70710	-0.4797	10	0.51188	T	0.08	-12.2225	12.0434	0.53466	0.856:0.144:0.0:0.0	.	37;82;82	B7Z2B2;B7Z280;Q8NHS3	.;.;MFSD8_HUMAN	P	82;37;37	ENSP00000296468:S82P;ENSP00000425000:S37P;ENSP00000439616:S37P	ENSP00000296468:S82P	S	-	1	0	MFSD8	129084552	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	3.541000	0.53618	2.038000	0.60285	0.451000	0.29950	TCA	MFSD8	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.363	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	A	NM_152778		128865102	-1	no_errors	ENST00000296468	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128865102	A	G	128865102	3	3	168	1	0	0	0	0	1	0	0	0	9561	246	9	5	1348	5	MFSD8	4	128865102	Missense_Mutation	SNP	A	TCGA-LP-A4AV-01A-11D-A243-09	4915570	128865102	62289174	134	31851										
SCLT1	132320	genome.wustl.edu	37	chr4	129857841	129857841	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gattctaatttctgcactttCagtaagtttcttcgtttctt	5	8	5	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:129857841C>T	ENST00000281142.5	-	18	2301	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	600					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTGCACTTTCAGTAAGTTTC	0.348																																																	0													150	143	145					4																	129857841		2203	4300	6503	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1798G>A	4.37:g.129857841C>T	ENSP00000281142:p.Glu600Lys		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.E600K	ENST00000281142.5	37	c.1798	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710937	0.48517	.	.	ENSG00000151466	ENST00000281142	T	0.51071	0.72	4.8	4.8	0.61643	.	0.165707	0.52532	D	0.000068	T	0.55114	0.1900	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.53718	-0.8399	9	.	.	.	-8.0977	17.8276	0.88671	0.0:1.0:0.0:0.0	.	600	Q96NL6	SCLT1_HUMAN	K	600	ENSP00000281142:E600K	.	E	-	1	0	SCLT1	130077291	1.000000	0.71417	0.843000	0.33291	0.012000	0.07955	4.349000	0.59385	2.370000	0.80446	0.655000	0.94253	GAA	SCLT1	-	NULL		0.348	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	C	NM_144643		129857841	-1	no_errors	ENST00000281142	ensembl	human	known	70_37	missense	SNP	0.994	T	T	129857841	C	T	129857841	3	4	168	1	0	0	0	0	1	0	0	0	13936	835	29	1	284	1	SCLT1	4	129857841	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	992739	129857841	61296435	135	31852										
TBC1D9	23158	genome.wustl.edu	37	chr4	141578289	141578289	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagtctaaagatgtctacctCagggtaaggttccacatcat	9	9	4	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:141578289C>T	ENST00000442267.2	-	13	2373	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	767							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGTCTACCTCAGGGTAAGGT	0.498																																																	0													154	158	156					4																	141578289		2036	4179	6215	SO:0001583	missense	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2299G>A	4.37:g.141578289C>T	ENSP00000411197:p.Glu767Lys		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.E767K	ENST00000442267.2	37	c.2299	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541893	0.45280	.	.	ENSG00000109436	ENST00000442267	T	0.08008	3.14	5.72	4.88	0.63580	Rab-GAP/TBC domain (1);	0.098275	0.64402	D	0.000002	T	0.08268	0.0206	L	0.39326	1.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10177	-1.0641	10	0.07482	T	0.82	.	16.9039	0.86120	0.0:0.8722:0.1278:0.0	.	767	Q6ZT07	TBCD9_HUMAN	K	767	ENSP00000411197:E767K	ENSP00000411197:E767K	E	-	1	0	TBC1D9	141797739	1.000000	0.71417	0.634000	0.29324	0.989000	0.77384	6.085000	0.71343	1.405000	0.46838	0.655000	0.94253	GAG	TBC1D9	-	superfamily_Rab-GTPase-TBC_dom		0.498	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	C	NM_015130		141578289	-1	no_errors	ENST00000442267	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141578289	C	T	141578289	3	4	168	1	0	0	0	0	1	0	0	0	15657	835	29	1	1537	1	TBC1D9	4	141578289	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	11720448	141578289	49575987	136	31853										
SMARCA5	8467	genome.wustl.edu	37	chr4	144459762	144459762	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggttcacgagtactaatcttCagtcaaatgacaagggtatt	9	7	4	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:144459762C>T	ENST00000283131.3	+	12	1977	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	505	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TACTAATCTTCAGTCAAATGA	0.373																																																	0													105	106	106					4																	144459762		2203	4300	6503	SO:0001819	synonymous_variant	8467			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1515C>T	4.37:g.144459762C>T				Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F505	ENST00000283131.3	37	c.1515	CCDS3761.1	4																																																																																			SMARCA5	-	pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C		0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	C			144459762	1	no_errors	ENST00000283131	ensembl	human	known	70_37	silent	SNP	1.000	T	T	144459762	C	T	144459762	2	4	168	1	0	0	0	0	0	0	0	1	14801	825	29	1		1	SMARCA5	4	144459762	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2881473	144459762	46694514	137	31854										
NPY2R	4887	genome.wustl.edu	37	chr4	156135547	156135547	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctggaccggcacaggtgcatCgtctaccacctagagagcaa	11	13	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:156135547C>T	ENST00000329476.3	+	2	945	c.456C>T	c.(454-456)atC>atT	p.I152I	NPY2R_ENST00000506608.1_Silent_p.I152I	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	152					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ACAGGTGCATCGTCTACCACC	0.572																																																	0													56	51	53					4																	156135547		2203	4300	6503	SO:0001819	synonymous_variant	4887			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.456C>T	4.37:g.156135547C>T			Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.I152	ENST00000329476.3	37	c.456	CCDS3791.1	4																																																																																			NPY2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPFF_rcpt		0.572	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	HGNC	protein_coding	OTTHUMT00000365128.1	C	NM_000910		156135547	1	no_errors	ENST00000329476	ensembl	human	known	70_37	silent	SNP	0.992	T	T	156135547	C	T	156135547	2	4	168	1	0	0	0	0	0	0	0	1	10633	874	31	1		1	NPY2R	4	156135547	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	11675785	156135547	35018729	138	31855										
CTSO	1519	genome.wustl.edu	37	chr4	156850736	156850736	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagaactgcatgatttgcttCtccactagagcagtgatgct	10	9	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr4:156850736C>T	ENST00000433477.3	-	6	865	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	273					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TGATTTGCTTCTCCACTAGAG	0.433																																					Pancreas(148;2303 2598 8989 35298)												0													137	122	127					4																	156850736		2203	4300	6503	SO:0001583	missense	1519			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"Cathepsins"	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.796G>A	4.37:g.156850736C>T	ENSP00000414904:p.Glu266Lys		Q6FHS6	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E266K	ENST00000433477.3	37	c.796	CCDS3794.1	4	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673547	0.29693	.	.	ENSG00000256043	ENST00000433477	D	0.87334	-2.24	5.53	5.53	0.82687	Peptidase C1A, papain C-terminal (2);	0.343781	0.33875	N	0.004461	T	0.71316	0.3325	N	0.03238	-0.38	0.28936	N	0.89127	B	0.12013	0.005	B	0.18263	0.021	T	0.58792	-0.7574	10	0.15066	T	0.55	.	13.1955	0.59736	0.0:0.9169:0.0:0.083	.	266	P43234	CATO_HUMAN	K	266	ENSP00000414904:E266K	ENSP00000281527:E266K	E	-	1	0	CTSO	157070186	0.857000	0.29778	1.000000	0.80357	0.998000	0.95712	0.906000	0.28517	2.598000	0.87819	0.655000	0.94253	GAA	CTSO	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.433	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSO	HGNC	protein_coding	OTTHUMT00000366469.1	C	NM_001334		156850736	-1	no_errors	ENST00000433477	ensembl	human	known	70_37	missense	SNP	0.999	T	T	156850736	C	T	156850736	3	4	168	1	0	0	0	0	1	0	0	0	4045	922	32	1	181	1	CTSO	4	156850736	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	715189	156850736	34303540	139	31856										
LPCAT1	79888	genome.wustl.edu	37	chr5	1479738	1479738	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctctgtatccatacgaacctCgatttccacttggttgtgaa	7	11	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:1479738C>G	ENST00000283415.3	-	8	946	c.814G>C	c.(814-816)Gag>Cag	p.E272Q		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	272					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATACGAACCTCGATTTCCACT	0.463											OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													184	133	150					5																	1479738		2203	4300	6503	SO:0001583	missense	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.814G>C	5.37:g.1479738C>G	ENSP00000283415:p.Glu272Gln	596	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E272Q	ENST00000283415.3	37	c.814	CCDS3864.1	5	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966140	0.53507	.	.	ENSG00000153395	ENST00000283415	D	0.93604	-3.25	3.71	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	M	0.84773	2.715	0.58432	D	0.999999	D	0.67145	0.996	D	0.63033	0.91	D	0.96120	0.9084	10	0.45353	T	0.12	-37.4174	15.1237	0.72465	0.0:1.0:0.0:0.0	.	272	Q8NF37	PCAT1_HUMAN	Q	272	ENSP00000283415:E272Q	ENSP00000283415:E272Q	E	-	1	0	LPCAT1	1532738	1.000000	0.71417	0.089000	0.20774	0.149000	0.21700	6.052000	0.71080	2.025000	0.59659	0.561000	0.74099	GAG	LPCAT1	-	NULL		0.463	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	HGNC	protein_coding	OTTHUMT00000304032.1	C	NM_024830		1479738	-1	no_errors	ENST00000283415	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1479738	C	G	1479738	3	3	168	1	0	0	0	0	1	0	0	0	8933	893	31	1	818	1	LPCAT1	5	1479738	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09		1479738	179435522	140	31857										
C5orf42	65250	genome.wustl.edu	37	chr5	37121812	37121812	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtagagttggtagctgtactGactcagataacagttcattc	10	7	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:37121812G>A	ENST00000508244.1	-	47	9023	c.8930C>T	c.(8929-8931)tCa>tTa	p.S2977L	C5orf42_ENST00000274258.7_Missense_Mutation_p.S1875L|C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.S2977L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2977						integral component of membrane (GO:0016021)		p.S2977L(1)|p.S1875L(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGCTGTACTGACTCAGATAA	0.448																																																	2	Substitution - Missense(2)	large_intestine(2)											310	272	285					5																	37121812		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8930C>T	5.37:g.37121812G>A	ENSP00000421690:p.Ser2977Leu		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.S2977L	ENST00000508244.1	37	c.8930	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	37	6.171485	0.97343	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.28	5.28	0.74379	.	0.239166	0.29403	N	0.012243	T	0.71048	0.3294	M	0.72118	2.19	0.24876	N	0.992258	D;D	0.89917	0.996;1.0	P;D	0.83275	0.906;0.996	T	0.65500	-0.6153	10	0.87932	D	0	.	14.4287	0.67233	0.0:0.0:1.0:0.0	.	2977;1875	E9PH94;Q9H799	.;CE042_HUMAN	L	2977;2977;1875;2043	ENSP00000421690:S2977L;ENSP00000389014:S2977L;ENSP00000274258:S1875L;ENSP00000424223:S2043L	ENSP00000274258:S1875L	S	-	2	0	C5orf42	37157569	0.996000	0.38824	0.293000	0.24932	0.925000	0.55904	5.045000	0.64220	2.470000	0.83445	0.591000	0.81541	TCA	C5orf42	-	NULL		0.448	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	G	NM_023073		37121812	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	0.365	A	A	37121812	G	A	37121812	3	1	168	1	0	0	0	0	1	0	0	0	2306	1294	45	1	683	1	C5orf42	5	37121812	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	35642074	37121812	143793448	141	31858										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41012810	41012810	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctctaggaacatcagaatttCttcatttgggatgaacttac	7	8	4	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:41012810C>T	ENST00000399564.4	-	30	3460	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E559K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1004																	ATCAGAATTTCTTCATTTGGG	0.428																																																	0													118	115	116					5																	41012810		1887	4124	6011	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3010G>A	5.37:g.41012810C>T	ENSP00000382476:p.Glu1004Lys		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1004K	ENST00000399564.4	37	c.3010	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712300	0.68730	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05649	3.41;3.41	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.203887	0.34879	N	0.003617	T	0.14700	0.0355	M	0.68593	2.085	0.41655	D	0.989153	P	0.51791	0.948	P	0.47941	0.562	T	0.00043	-1.2223	10	0.72032	D	0.01	.	16.0793	0.80989	0.0:1.0:0.0:0.0	.	1004	Q7Z745	HTRB2_HUMAN	K	559;709;1004	ENSP00000441504:E559K;ENSP00000382476:E1004K	ENSP00000296803:E709K	E	-	1	0	HEATR7B2	41048567	0.996000	0.38824	0.946000	0.38457	0.113000	0.19764	2.275000	0.43399	2.873000	0.98535	0.561000	0.74099	GAA	HEATR7B2	-	superfamily_ARM-type_fold		0.428	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	C	NM_173489		41012810	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	0.999	T	T	41012810	C	T	41012810	3	4	168	1	0	0	0	0	1	0	0	0	7055	922	32	1	1799	1	HEATR7B2	5	41012810	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3890998	41012810	139902450	142	31859										
TMEM161B	153396	genome.wustl.edu	37	chr5	87498893	87498893	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agttgatatgaagtaaagttCtgaaagtacgtaagaaataa	9	2	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:87498893C>T	ENST00000296595.6	-	9	925		c.e9-1		TMEM161B_ENST00000506536.1_Splice_Site|TMEM161B_ENST00000512429.1_Splice_Site|TMEM161B_ENST00000511218.1_Splice_Site|TMEM161B_ENST00000514135.1_Splice_Site|TMEM161B_ENST00000509387.1_Splice_Site	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B							integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAGTAAAGTTCTGAAAGTACG	0.368																																																	0													99	91	94					5																	87498893		2203	4300	6503	SO:0001630	splice_region_variant	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.801-1G>A	5.37:g.87498893C>T			Q5CZH7|Q6UWQ6	Splice_Site	SNP	-	e9-1	ENST00000296595.6	37	c.801-1	CCDS4065.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214290	0.79352	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000511218;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1101	0.72349	0.0:0.9304:0.0:0.0696	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM161B	87534649	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.794000	0.85869	2.712000	0.92718	0.650000	0.86243	.	TMEM161B	-	-		0.368	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161B	HGNC	protein_coding	OTTHUMT00000254094.1	C	NM_153354	Intron	87498893	-1	no_errors	ENST00000296595	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	87498893	C	T	87498893	5	4	168	1	0	0	0	0	0	0	1	0	16107	927	32	1	679	1	TMEM161B	5	87498893	Splice_Site	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	46486083	87498893	93416367	143	31860										
GPR98	84059	genome.wustl.edu	37	chr5	90055300	90055300	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagacgttcaatatttccttGatcagtgttgctggaggtgg	13	6	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:90055300G>A	ENST00000405460.2	+	58	12111	c.12015G>A	c.(12013-12015)ttG>ttA	p.L4005L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4005	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATTTCCTTGATCAGTGTTG	0.373																																																	0													176	170	172					5																	90055300		2057	4214	6271	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12015G>A	5.37:g.90055300G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L4005	ENST00000405460.2	37	c.12015	CCDS47246.1	5																																																																																			GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90055300	1	no_errors	ENST00000405460	ensembl	human	known	70_37	silent	SNP	0.173	A	A	90055300	G	A	90055300	2	1	168	1	0	0	0	0	0	0	0	1	6741	1281	45	1		1	GPR98	5	90055300	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2556407	90055300	90859960	144	31861										
FAM81B	153643	genome.wustl.edu	37	chr5	94764306	94764306	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	caatttccatcttgccattaGatgtgattcaagcattgtga	7	8	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:94764306G>C	ENST00000283357.5	+	6	702		c.e6-1			NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B							nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CTTGCCATTAGATGTGATTCA	0.403																																																	0													121	114	116					5																	94764306		1864	4095	5959	SO:0001630	splice_region_variant	153643				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.657-1G>C	5.37:g.94764306G>C				Splice_Site	SNP	-	e6-1	ENST00000283357.5	37	c.657-1	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681919	0.68042	.	.	ENSG00000153347	ENST00000283357	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9772	0.92742	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM81B	94790062	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.789000	0.69029	2.780000	0.95670	0.655000	0.94253	.	FAM81B	-	-		0.403	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	G	NM_152548	Intron	94764306	1	no_errors	ENST00000283357	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	94764306	G	C	94764306	5	2	168	1	0	0	0	0	0	0	1	0	5647	956	33	1	678	1	FAM81B	5	94764306	Splice_Site	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	4709006	94764306	86150954	145	31862										
YTHDC2	64848	genome.wustl.edu	37	chr5	112874788	112874788	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tagtacagggaagaccatttGaagtaaaagaaatgtttctg	10	4	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:112874788G>C	ENST00000161863.4	+	8	1333	c.1120G>C	c.(1120-1122)Gaa>Caa	p.E374Q	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E374Q	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	374					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAGACCATTTGAAGTAAAAGA	0.249																																																	0													13	15	14					5																	112874788		2069	4187	6256	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1120G>C	5.37:g.112874788G>C	ENSP00000161863:p.Glu374Gln		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E374Q	ENST00000161863.4	37	c.1120	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985573	0.53934	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.19938	2.11;2.11	5.43	5.43	0.79202	DEAD-like helicase (1);	0.049293	0.85682	D	0.000000	T	0.25419	0.0618	L	0.49350	1.555	0.58432	D	0.999999	B	0.13594	0.008	B	0.12156	0.007	T	0.02596	-1.1136	10	0.54805	T	0.06	.	19.239	0.93875	0.0:0.0:1.0:0.0	.	374	Q9H6S0	YTDC2_HUMAN	Q	374;374;284	ENSP00000161863:E374Q;ENSP00000423101:E374Q	ENSP00000161863:E374Q	E	+	1	0	YTHDC2	112902687	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.370000	0.97159	2.532000	0.85374	0.557000	0.71058	GAA	YTHDC2	-	smart_Helicase_ATP-bd		0.249	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112874788	1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112874788	G	C	112874788	3	2	168	1	0	0	0	0	1	0	0	0	17528	1291	45	1	1150	1	YTHDC2	5	112874788	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	18110482	112874788	68040472	146	31863										
ZNF608	57507	genome.wustl.edu	37	chr5	123984460	123984460	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccttggtccaaaaaagtagtCtctggtttcccttgaggggt	11	9	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:123984460C>T	ENST00000306315.5	-	4	2052	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	ZNF608_ENST00000504926.1_Silent_p.E112E	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	539							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AAAAAGTAGTCTCTGGTTTCC	0.507																																																	0													160	152	154					5																	123984460		2203	4300	6503	SO:0001819	synonymous_variant	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1617G>A	5.37:g.123984460C>T			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	NULL	p.E539	ENST00000306315.5	37	c.1617	CCDS34219.1	5																																																																																			ZNF608	-	NULL		0.507	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	C	XM_114432		123984460	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	silent	SNP	1.000	T	T	123984460	C	T	123984460	2	4	168	1	0	0	0	0	0	0	0	1	18064	912	32	1		1	ZNF608	5	123984460	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	11109672	123984460	56930800	147	31864										
PURA	5813	genome.wustl.edu	37	chr5	139494400	139494400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcatcgacgactacggagtgGaggaggagccggccgagctg	17	10	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:139494400G>C	ENST00000331327.3	+	1	693	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	212					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGGAGTGGAGGAGGAGCC	0.637																																																	0													38	40	39					5																	139494400		2203	4300	6503	SO:0001583	missense	5813			BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.634G>C	5.37:g.139494400G>C	ENSP00000332706:p.Glu212Gln			Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.E212Q	ENST00000331327.3	37	c.634	CCDS4220.1	5	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702880	0.88924	.	.	ENSG00000185129	ENST00000331327	T	0.33654	1.4	5.09	4.2	0.49525	.	0.059238	0.64402	D	0.000003	T	0.40815	0.1132	L	0.38838	1.175	0.54753	D	0.999982	P	0.45212	0.853	P	0.50617	0.646	T	0.32025	-0.9922	10	0.54805	T	0.06	-9.1095	14.5496	0.68057	0.0:0.0:0.8523:0.1477	.	212	Q00577	PURA_HUMAN	Q	212	ENSP00000332706:E212Q	ENSP00000332706:E212Q	E	+	1	0	PURA	139474584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.599000	0.98280	1.351000	0.45789	0.650000	0.86243	GAG	PURA	-	pfam_PUR_DNA_RNA-bd		0.637	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PURA	HGNC	protein_coding	OTTHUMT00000251341.3	G	NM_005859		139494400	1	no_errors	ENST00000331327	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139494400	G	C	139494400	3	2	168	1	0	0	0	0	1	0	0	0	12857	1175	41	1	636	1	PURA	5	139494400	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	15509940	139494400	41420860	148	31865										
SLC4A9	83697	genome.wustl.edu	37	chr5	139745485	139745485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cccggcagggaggccaccctCgtggccctggctgtcataca	13	16	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:139745485C>T	ENST00000230993.6	+	13	1884	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R617C|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R593C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R579C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	617	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCACCCTCGTGGCCCTGG	0.547																																																	0													174	182	179					5																	139745485		2047	4180	6227	SO:0001583	missense	83697			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1849C>T	5.37:g.139745485C>T	ENSP00000230993:p.Arg617Cys		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R617C	ENST00000230993.6	37	c.1849	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613781	0.46631	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000507527	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.4	4.4	0.53042	Bicarbonate transporter, C-terminal (1);	0.384653	0.25081	N	0.033300	T	0.82107	0.4965	L	0.47716	1.5	0.38615	D	0.950998	D;D;D	0.76494	0.999;0.998;0.998	P;P;P	0.62885	0.908;0.795;0.795	D	0.83545	0.0098	10	0.54805	T	0.06	.	13.5596	0.61782	0.0:0.7279:0.2721:0.0	.	617;579;593	Q96Q91;Q96Q91-2;Q96Q91-3	B3A4_HUMAN;.;.	C	617;593;579;617	ENSP00000230993:R617C;ENSP00000424424:R593C;ENSP00000410056:R579C;ENSP00000427661:R617C	ENSP00000230993:R617C	R	+	1	0	SLC4A9	139725669	1.000000	0.71417	0.995000	0.50966	0.641000	0.38312	2.065000	0.41442	2.735000	0.93741	0.561000	0.74099	CGT	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.547	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	C	NM_031467		139745485	1	no_errors	ENST00000230993	ensembl	human	known	70_37	missense	SNP	0.970	T	T	139745485	C	T	139745485	3	4	168	1	0	0	0	0	1	0	0	0	14690	884	31	1	1827	1	SLC4A9	5	139745485	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	251085	139745485	41169775	149	31866										
NR3C1	2908	genome.wustl.edu	37	chr5	142780248	142780248	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcgctgcttggagtctgattGagaagcgacagccagtgagg	15	8	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:142780248G>C	ENST00000343796.2	-	2	1150	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E	NR3C1_ENST00000394466.2_Missense_Mutation_p.Q53E|NR3C1_ENST00000424646.2_Missense_Mutation_p.Q53E|NR3C1_ENST00000415690.2_Missense_Mutation_p.Q53E|NR3C1_ENST00000504572.1_Missense_Mutation_p.Q53E|NR3C1_ENST00000503201.1_Missense_Mutation_p.Q53E|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000231509.3_Missense_Mutation_p.Q53E|NR3C1_ENST00000394464.2_Missense_Mutation_p.Q53E	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	53	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GAGTCTGATTGAGAAGCGACA	0.483																																																	0													99	97	98					5																	142780248		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.157C>G	5.37:g.142780248G>C	ENSP00000343205:p.Gln53Glu		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.Q53E	ENST00000343796.2	37	c.157	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088269	0.20390	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.14	5.14	0.70334	.	0.447718	0.24309	N	0.039651	T	0.42200	0.1192	M	0.78049	2.395	0.80722	D	1	B;B;B	0.23185	0.002;0.081;0.0	B;B;B	0.24269	0.006;0.052;0.006	T	0.31558	-0.9939	10	0.33141	T	0.24	.	15.0467	0.71833	0.0:0.1423:0.8577:0.0	.	53;53;53	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	E	53	ENSP00000377977:Q53E;ENSP00000343205:Q53E;ENSP00000387672:Q53E;ENSP00000405282:Q53E;ENSP00000422518:Q53E;ENSP00000377979:Q53E;ENSP00000231509:Q53E;ENSP00000427672:Q53E;ENSP00000424747:Q53E;ENSP00000425313:Q53E;ENSP00000420856:Q53E;ENSP00000426478:Q53E;ENSP00000425374:Q53E	ENSP00000231509:Q53E	Q	-	1	0	NR3C1	142760441	1.000000	0.71417	0.958000	0.39756	0.342000	0.28953	4.778000	0.62368	2.400000	0.81607	0.561000	0.74099	CAA	NR3C1	-	pfam_Glcrtcd_rcpt		0.483	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	G			142780248	-1	no_errors	ENST00000231509	ensembl	human	known	70_37	missense	SNP	1.000	C	C	142780248	G	C	142780248	3	2	168	1	0	0	0	0	1	0	0	0	10654	1299	45	1	2263	1	NR3C1	5	142780248	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3034763	142780248	38135012	150	31867										
RBM27	54439	genome.wustl.edu	37	chr5	145643181	145643181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaatcagtctggtggtgctgGagaagattgccaggtatgca	15	6	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:145643181G>A	ENST00000265271.5	+	14	2484	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	RBM27_ENST00000506502.1_Missense_Mutation_p.G718E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	773					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGGTGCTGGAGAAGATTGC	0.383																																																	0													217	183	194					5																	145643181		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2318G>A	5.37:g.145643181G>A	ENSP00000265271:p.Gly773Glu		Q8IYW9	Missense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.G773E	ENST00000265271.5	37	c.2318	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	3.629	-0.075882	0.07184	.	.	ENSG00000091009	ENST00000265271	T	0.41758	0.99	5.74	4.85	0.62838	.	0.182039	0.37715	N	0.001974	T	0.23451	0.0567	N	0.24115	0.695	0.37544	D	0.91844	B;B	0.33694	0.392;0.421	B;B	0.29598	0.104;0.027	T	0.11941	-1.0567	10	0.05721	T	0.95	-9.5191	11.7749	0.51981	0.0:0.3172:0.5632:0.1196	.	773;718	Q9P2N5;B3KY61	RBM27_HUMAN;.	E	773	ENSP00000265271:G773E	ENSP00000265271:G773E	G	+	2	0	RBM27	145623374	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.134000	0.31442	1.377000	0.46286	0.650000	0.86243	GGA	RBM27	-	NULL		0.383	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	G	XM_291128		145643181	1	no_errors	ENST00000265271	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145643181	G	A	145643181	3	1	168	1	0	0	0	0	1	0	0	0	13157	1174	41	1	2372	1	RBM27	5	145643181	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2862933	145643181	35272079	151	31868										
SLC6A7	6534	genome.wustl.edu	37	chr5	149576737	149576737	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggagcactgtggcaactggtGgaacacagaactctgcctgg	14	10	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:149576737G>A	ENST00000230671.2	+	4	853	c.482G>A	c.(481-483)tGg>tAg	p.W161*	SLC6A7_ENST00000524041.1_Nonsense_Mutation_p.W161*	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	161					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GGCAACTGGTGGAACACAGAA	0.602																																																	0													109	100	103					5																	149576737		2203	4300	6503	SO:0001587	stop_gained	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.482G>A	5.37:g.149576737G>A	ENSP00000230671:p.Trp161*		Q0VG81|Q52LU6	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.W161*	ENST00000230671.2	37	c.482	CCDS4305.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.642588	0.98406	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	.	.	.	5.09	5.09	0.68999	.	0.162979	0.44902	D	0.000418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8752	0.92332	0.0:0.0:1.0:0.0	.	.	.	.	X	161	.	ENSP00000230671:W161X	W	+	2	0	SLC6A7	149556930	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.607000	0.82883	2.534000	0.85438	0.655000	0.94253	TGG	SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.602	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	G	NM_014228		149576737	1	no_errors	ENST00000230671	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	149576737	G	A	149576737	4	1	168	1	0	0	0	0	0	1	0	0	14719	1357	47	4	496	4	SLC6A7	5	149576737	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3933556	149576737	31338523	152	31869										
TCOF1	6949	genome.wustl.edu	37	chr5	149754645	149754645	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gccgcccaggtccaggtgggGaagcaggaggaggactcaag	18	10	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:149754645G>T	ENST00000504761.2	+	10	1407	c.1407G>T	c.(1405-1407)ggG>ggT	p.G469G	TCOF1_ENST00000394269.3_Silent_p.G469G|TCOF1_ENST00000377797.3_Silent_p.G469G|TCOF1_ENST00000323668.7_Silent_p.G392G|TCOF1_ENST00000451292.1_Silent_p.G469G|TCOF1_ENST00000445265.2_Silent_p.G392G|TCOF1_ENST00000513346.1_Silent_p.G469G|TCOF1_ENST00000439160.2_Silent_p.G469G			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	469					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGGTGGGGAAGCAGGAGG	0.652																																																	0													23	28	27					5																	149754645		2203	4300	6503	SO:0001819	synonymous_variant	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1407G>T	5.37:g.149754645G>T			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.G469	ENST00000504761.2	37	c.1407	CCDS54936.1	5																																																																																			TCOF1	-	pfam_TCS_treacle		0.652	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149754645	1	no_errors	ENST00000451292	ensembl	human	known	70_37	silent	SNP	0.000	T	T	149754645	G	T	149754645	2	4	168	1	0	0	0	0	0	0	0	1	15738	1161	41	3		3	TCOF1	5	149754645	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	177908	149754645	31160615	153	31870										
TCOF1	6949	genome.wustl.edu	37	chr5	149754679	149754679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actcaagaagcagcagcgagGagtcagacagtgacagagag	14	8	2	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:149754679G>A	ENST00000504761.2	+	10	1441	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	TCOF1_ENST00000394269.3_Missense_Mutation_p.E481K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E481K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E404K|TCOF1_ENST00000451292.1_Missense_Mutation_p.E481K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E404K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E481K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E481K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	481					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCAGCGAGGAGTCAGACAG	0.627																																																	0													21	26	24					5																	149754679		2201	4299	6500	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1441G>A	5.37:g.149754679G>A	ENSP00000421655:p.Glu481Lys		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.E481K	ENST00000504761.2	37	c.1441	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	16.27	3.077165	0.55753	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.3	4.3	0.51218	Treacher Collins syndrome, treacle (1);	.	.	.	.	T	0.76126	0.3944	M	0.75777	2.31	0.28553	N	0.911501	D;P;D;P;P;D	0.57257	0.979;0.93;0.979;0.943;0.93;0.979	P;P;P;P;P;P	0.59703	0.862;0.689;0.862;0.793;0.689;0.785	T	0.68070	-0.5506	9	0.18276	T	0.48	-14.4185	12.6267	0.56634	0.0:0.0:1.0:0.0	.	481;404;481;481;404;481	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	K	481;481;404;404;481;481;481;481;481	ENSP00000400939:E481K;ENSP00000367028:E481K;ENSP00000409944:E404K;ENSP00000325223:E404K;ENSP00000406888:E481K;ENSP00000377811:E481K;ENSP00000390717:E481K;ENSP00000421655:E481K;ENSP00000427484:E481K	ENSP00000325223:E404K	E	+	1	0	TCOF1	149734872	0.931000	0.31567	0.495000	0.27527	0.188000	0.23474	2.959000	0.49153	2.104000	0.64026	0.462000	0.41574	GAG	TCOF1	-	pfam_TCS_treacle		0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149754679	1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.997	A	A	149754679	G	A	149754679	3	1	168	1	0	0	0	0	1	0	0	0	15738	1175	41	1	1479	1	TCOF1	5	149754679	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	34	149754679	31160581	154	31871										
ADRA1B	147	genome.wustl.edu	37	chr5	159344660	159344660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggagatgtccaactccaagGagctgaccctgaggatccat	11	11	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:159344660G>A	ENST00000306675.3	+	1	871	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	250					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CAACTCCAAGGAGCTGACCCT	0.517																																																	0													106	104	105					5																	159344660		2203	4300	6503	SO:0001583	missense	147			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"GPCR / Class A : Adrenoceptors : alpha"	278	protein-coding gene	gene with protein product		104220	"adrenergic, alpha-1B-, receptor"				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.748G>A	5.37:g.159344660G>A	ENSP00000306662:p.Glu250Lys		B0LPE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.E250K	ENST00000306675.3	37	c.748	CCDS4347.1	5	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591938	0.66219	.	.	ENSG00000170214	ENST00000306675	T	0.26067	1.76	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.202478	0.51477	D	0.000092	T	0.36744	0.0978	L	0.51853	1.615	0.58432	D	0.999999	B	0.34061	0.436	B	0.43155	0.41	T	0.05954	-1.0854	10	0.59425	D	0.04	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	250	P35368	ADA1B_HUMAN	K	250	ENSP00000306662:E250K	ENSP00000306662:E250K	E	+	1	0	ADRA1B	159277238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAG	ADRA1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.517	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1B	HGNC	protein_coding	OTTHUMT00000252676.1	G			159344660	1	no_errors	ENST00000306675	ensembl	human	known	70_37	missense	SNP	1.000	A	A	159344660	G	A	159344660	3	1	168	1	0	0	0	0	1	0	0	0	335	1175	41	1	750	1	ADRA1B	5	159344660	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	9589981	159344660	21570600	155	31872										
FAM153B	202134	genome.wustl.edu	37	chr5	175528087	175528087	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaggagcatgggccagggcaGacagtctctgaggaagccac	16	10	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr5:175528087G>C	ENST00000253490.4	+	11	657	c.600G>C	c.(598-600)caG>caC	p.Q200H	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.Q123H|FAM153B_ENST00000510151.1_Missense_Mutation_p.Q123H			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	200										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GGCCAGGGCAGACAGTCTCTG	0.473																																																	0													171	212	197					5																	175528087		1510	2708	4218	SO:0001583	missense	202134			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.600G>C	5.37:g.175528087G>C	ENSP00000253490:p.Gln200His		A8MTI1	Missense_Mutation	SNP	prints_FAM153	p.Q200H	ENST00000253490.4	37	c.600		5	.	.	.	.	.	.	.	.	.	.	G	5.972	0.363381	0.11296	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.917	-1.83	0.07833	.	.	.	.	.	T	0.23572	0.0570	N	0.19112	0.55	0.09310	N	1	D	0.53462	0.96	P	0.52554	0.702	T	0.12344	-1.0551	8	0.72032	D	0.01	.	2.7521	0.05284	0.0:0.3555:0.3708:0.2737	.	200	P0C7A2	F153B_HUMAN	H	123;200	.	ENSP00000253490:Q200H	Q	+	3	2	FAM153B	175460693	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-1.449000	0.02392	-0.788000	0.04504	0.416000	0.27883	CAG	FAM153B	-	NULL		0.473	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		G	NM_001079529		175528087	1	no_errors	ENST00000253490	ensembl	human	known	70_37	missense	SNP	0.000	C	C	175528087	G	C	175528087	3	2	168	1	0	0	0	0	1	0	0	0	5476	933	33	1	642	1	FAM153B	5	175528087	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	16183427	175528087	5387173	156	31873										
SLC22A23	63027	genome.wustl.edu	37	chr6	3287169	3287169	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agcagccctcccctgcgcccGaggaatcggaccaccacgca	10	19	0	0	rs370232474		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:3287169G>A	ENST00000406686.3	-	7	1469	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	SLC22A23_ENST00000436008.2_Silent_p.L490L|SLC22A23_ENST00000380302.4_Silent_p.L209L|SLC22A23_ENST00000490273.1_Silent_p.L209L|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	490					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CCCTGCGCCCGAGGAATCGGA	0.642																																																	0								G	,	0,4406		0,0,2203	78	56	63		1470,627	0.3	1	6		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC22A23	NM_015482.1,NM_021945.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	490/687,209/406	3287169	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63027			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1470C>T	6.37:g.3287169G>A			A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L490	ENST00000406686.3	37	c.1470	CCDS47363.1	6																																																																																			SLC22A23	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.642	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	SLC22A23	HGNC	protein_coding	OTTHUMT00000353059.1	G	NM_021945		3287169	-1	no_errors	ENST00000406686	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3287169	G	A	3287169	2	1	168	1	0	0	0	0	0	0	0	1	14482	1045	37	1		1	SLC22A23	6	3287169	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		3287169	167827898	157	31874										
C6orf146	222826	genome.wustl.edu	37	chr6	4073577	4073577	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aagatcccttgtttactattCtgatgacagaaaaataatgg	7	6	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:4073577C>T	ENST00000274673.3	-	6	638		c.e6-1		FAM217A_ENST00000380188.2_Splice_Site	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A																		GTTTACTATTCTGATGACAGA	0.303																																																	0													84	86	85					6																	4073577		2201	4297	6498	SO:0001630	splice_region_variant	222826			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.235-1G>A	6.37:g.4073577C>T			Q5JYK1	Splice_Site	SNP	-	e5-1	ENST00000274673.3	37	c.235-1	CCDS4489.1	6	.	.	.	.	.	.	.	.	.	.	C	8.414	0.844729	0.16963	.	.	ENSG00000145975	ENST00000274673;ENST00000470599;ENST00000498677;ENST00000492651	.	.	.	5.22	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8244	0.52259	0.0:0.8244:0.1756:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf146	4018576	0.993000	0.37304	0.871000	0.34182	0.148000	0.21650	1.227000	0.32576	1.431000	0.47355	0.591000	0.81541	.	FAM217A	-	-		0.303	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217A	HGNC	protein_coding	OTTHUMT00000352577.2	C	NM_173563	Intron	4073577	-1	no_errors	ENST00000274673	ensembl	human	known	70_37	splice_site	SNP	0.986	T	T	4073577	C	T	4073577	5	4	168	1	0	0	0	0	0	0	1	0	2340	927	32	1	1300	1	C6orf146	6	4073577	Splice_Site	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	786408	4073577	167041490	158	31875										
DSP	1832	genome.wustl.edu	37	chr6	7578090	7578090	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctatcaagaggaccatgattCagtccccttctggggtgatt	10	10	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:7578090C>T	ENST00000379802.3	+	21	3297	c.2956C>T	c.(2956-2958)Cag>Tag	p.Q986*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q986*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	986	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACCATGATTCAGTCCCCTTC	0.468																																																	0													122	116	118					6																	7578090		2203	4300	6503	SO:0001587	stop_gained	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2956C>T	6.37:g.7578090C>T	ENSP00000369129:p.Gln986*		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q986*	ENST00000379802.3	37	c.2956	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	43	10.475944	0.99412	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.45	5.45	0.79879	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.2837	0.94061	0.0:1.0:0.0:0.0	.	.	.	.	X	986;986;791	.	ENSP00000369129:Q986X	Q	+	1	0	DSP	7523089	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	4.572000	0.60886	2.553000	0.86117	0.655000	0.94253	CAG	DSP	-	smart_Spectrin/alpha-actinin		0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7578090	1	no_errors	ENST00000379802	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	7578090	C	T	7578090	4	4	168	1	0	0	0	0	0	1	0	0	4791	827	29	1	3038	1	DSP	6	7578090	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3504513	7578090	163536977	159	31876										
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834744	27834744	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gccttgggcttggcaggactCttggttgcctttttcggttt	13	9	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:27834744C>G	ENST00000331442.3	-	1	615	c.564G>C	c.(562-564)aaG>aaC	p.K188N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	188					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TGGCAGGACTCTTGGTTGCCT	0.587																																																	0													76	75	75					6																	27834744		2203	4300	6503	SO:0001583	missense	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.564G>C	6.37:g.27834744C>G	ENSP00000330074:p.Lys188Asn		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K188N	ENST00000331442.3	37	c.564	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537741	0.27475	.	.	ENSG00000184357	ENST00000331442	T	0.20463	2.07	5.19	2.47	0.30058	.	0.053885	0.64402	D	0.000001	T	0.11024	0.0269	N	0.08118	0	0.58432	D	0.999992	D	0.69078	0.997	P	0.61397	0.888	T	0.11941	-1.0567	10	0.72032	D	0.01	-5.6055	9.7808	0.40647	0.0:0.709:0.0:0.291	.	188	P16401	H15_HUMAN	N	188	ENSP00000330074:K188N	ENSP00000330074:K188N	K	-	3	2	HIST1H1B	27942723	1.000000	0.71417	0.937000	0.37676	0.051000	0.14879	2.393000	0.44442	0.316000	0.23135	-0.136000	0.14681	AAG	HIST1H1B	-	NULL		0.587	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834744	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27834744	C	G	27834744	3	3	168	1	0	0	0	0	1	0	0	0	7143	912	32	1	120	1	HIST1H1B	6	27834744	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	20256654	27834744	143280323	160	31877										
HLA-F	3134	genome.wustl.edu	37	chr6	29691562	29691562	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gacagcgacgccgcgattccGaggatggagccgcgggagcc	17	13	0	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:29691562G>A	ENST00000376861.1	+	3	576	c.192G>A	c.(190-192)ccG>ccA	p.P64P	HLA-F_ENST00000434407.2_Silent_p.P64P|HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000334668.4_Silent_p.P64P|HLA-F_ENST00000259951.7_Silent_p.P64P			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	64	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCGATTCCGAGGATGGAGC	0.682																																																	0													16	15	15					6																	29691562		1506	2707	4213	SO:0001819	synonymous_variant	3134			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.192G>A	6.37:g.29691562G>A			Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.P64	ENST00000376861.1	37	c.192	CCDS43438.1	6																																																																																			HLA-F	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.682	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	G	NM_018950		29691562	1	no_errors	ENST00000259951	ensembl	human	known	70_37	silent	SNP	0.046	A	A	29691562	G	A	29691562	2	1	168	1	0	0	0	0	0	0	0	1	7231	1045	37	1		1	HLA-F	6	29691562	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1856818	29691562	141423505	161	31878										
HLA-A	3105	genome.wustl.edu	37	chr6	29912342	29912342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcctggttctccttggagctGtgatcactggagctgtggtc	14	10	2	1	rs1059896	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:29912342G>A	ENST00000396634.1	+	7	1302	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.V321M|HLA-A_ENST00000376806.5_Missense_Mutation_p.V321M			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	321					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCTTGGAGCTGTGATCACTGG	0.597									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	128	0.0255591	0.0416	0.0173	5008	,	,		20442	0.003		0.0318	False		,,,				2504	0.0266																0													112	106	108					6																	29912342		1511	2709	4220	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.961G>A	6.37:g.29912342G>A	ENSP00000379873:p.Val321Met		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.V321M	ENST00000396634.1	37	c.961	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	5.337	0.247500	0.10130	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00840	5.65;5.63;5.65	3.33	-6.27	0.02026	.	0.430133	0.16501	U	0.211648	T	0.00967	0.0032	M	0.90145	3.09	0.09310	N	1	B;B;P;B;B	0.48640	0.028;0.003;0.913;0.011;0.003	B;B;P;B;B	0.52159	0.007;0.017;0.691;0.031;0.017	T	0.11817	-1.0572	10	0.87932	D	0	.	2.2389	0.04015	0.2058:0.4163:0.2375:0.1404	rs1059896;rs2231110;rs3179278;rs3200748;rs9260188;rs11539952;rs17434177;rs41564014;rs52825425	200;321;321;321;321	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	M	321	ENSP00000379873:V321M;ENSP00000366002:V321M;ENSP00000366005:V321M	ENSP00000366002:V321M	V	+	1	0	HLA-A	30020321	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.236000	0.09003	-0.955000	0.03636	0.430000	0.28490	GTG	HLA-A	-	NULL		0.597	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29912342	1	no_errors	ENST00000376806	ensembl	human	known	70_37	missense	SNP	0.000	A	A	29912342	G	A	29912342	3	1	168	1	0	0	0	0	1	0	0	0	7215	1377	48	4	979	4	HLA-A	6	29912342	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	220780	29912342	141202725	162	31879										
ZNRD1	30834	genome.wustl.edu	37	chr6	30030070	30030070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccagacagatgcgttcagccGatgaagggcaaactgtcttc	11	11	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:30030070G>T	ENST00000332435.5	+	3	587	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1_ENST00000359374.4_Missense_Mutation_p.D106Y|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000452229.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000431012.1_RNA|ZNRD1_ENST00000376785.2_Missense_Mutation_p.D106Y|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1_ENST00000376782.2_Missense_Mutation_p.D106Y	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	106					nucleobase-containing compound metabolic process (GO:0006139)|termination of RNA polymerase I transcription (GO:0006363)	DNA-directed RNA polymerase I complex (GO:0005736)	DNA-directed RNA polymerase activity (GO:0003899)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										GCGTTCAGCCGATGAAGGGCA	0.507																																																	0													180	118	140					6																	30030070		1511	2709	4220	SO:0001583	missense	30834			AF024617	CCDS4670.1	6p21	2011-02-18	2006-04-04		ENSG00000066379	ENSG00000066379			13182	protein-coding gene	gene with protein product		607525	"zinc ribbon domain containing, 1"			8938444, 10662553	Standard	NM_170783		Approved	hZR14, HTEX-6, tctex-6, RPA12	uc003npa.3	Q9P1U0	OTTHUMG00000031149	ENST00000332435.5:c.316G>T	6.37:g.30030070G>T	ENSP00000331111:p.Asp106Tyr			Missense_Mutation	SNP	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS	p.D106Y	ENST00000332435.5	37	c.316	CCDS4670.1	6	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561945	0.86335	.	.	ENSG00000066379	ENST00000332435;ENST00000376782;ENST00000359374;ENST00000376785	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.18	5.18	0.71444	Zinc finger, TFIIS-type (4);	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91600	0.5294	10	0.87932	D	0	-19.3666	16.2286	0.82318	0.0:0.0:1.0:0.0	.	106	Q9P1U0	RPA12_HUMAN	Y	106	ENSP00000331111:D106Y;ENSP00000365978:D106Y;ENSP00000352333:D106Y;ENSP00000365981:D106Y	ENSP00000331111:D106Y	D	+	1	0	ZNRD1	30138049	1.000000	0.71417	0.397000	0.26308	0.903000	0.53119	8.137000	0.89612	2.702000	0.92279	0.643000	0.83706	GAT	ZNRD1	-	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS		0.507	ZNRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRD1	HGNC	protein_coding	OTTHUMT00000076272.2	G			30030070	1	no_errors	ENST00000332435	ensembl	human	known	70_37	missense	SNP	0.996	T	T	30030070	G	T	30030070	3	4	168	1	0	0	0	0	1	0	0	0	18240	1058	37	3	326	3	ZNRD1	6	30030070	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	117728	30030070	141084997	163	31880										
PRR3	80742	genome.wustl.edu	37	chr6	30525185	30525185	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agcagcagcccccgctgcccGagcgggaagagactggagat	15	13	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:30525185G>T	ENST00000376560.3	+	1	523	c.64G>T	c.(64-66)Gag>Tag	p.E22*	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Nonsense_Mutation_p.E22*|GNL1_ENST00000376621.3_5'Flank	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	22	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						CCCGCTGCCCGAGCGGGAAGA	0.627																																																	0													22	28	26					6																	30525185		1348	2602	3950	SO:0001587	stop_gained	80742			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"Zinc fingers, CCCH-type domain containing"	21149	protein-coding gene	gene with protein product			"proline-rich polpeptide 3"				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.64G>T	6.37:g.30525185G>T	ENSP00000365744:p.Glu22*		A1A4H4|Q5RJB5|Q5STN6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E22*	ENST00000376560.3	37	c.64	CCDS43440.1	6	.	.	.	.	.	.	.	.	.	.	G	40	7.958384	0.98583	.	.	ENSG00000204576	ENST00000376560;ENST00000376555;ENST00000376557	.	.	.	5.35	5.35	0.76521	.	0.140639	0.33161	N	0.005201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.0963	14.4328	0.67261	0.0:0.0:1.0:0.0	.	.	.	.	X	22;87;22	.	ENSP00000365738:E87X	E	+	1	0	PRR3	30633164	0.969000	0.33509	0.963000	0.40424	0.407000	0.30961	2.122000	0.41987	2.780000	0.95670	0.655000	0.94253	GAG	PRR3	-	NULL		0.627	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2	G	NM_025263		30525185	1	no_errors	ENST00000376560	ensembl	human	known	70_37	nonsense	SNP	0.973	T	T	30525185	G	T	30525185	4	4	168	1	0	0	0	0	0	1	0	0	12625	1059	37	3	66	3	PRR3	6	30525185	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	495115	30525185	140589882	164	31881										
GTF2H4	2968	genome.wustl.edu	37	chr6	30880141	30880141	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgccctcattgccctcttctCtgagatgctctatcggttcc	7	15	4	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:30880141C>T	ENST00000259895.4	+	11	1218	c.995C>T	c.(994-996)tCt>tTt	p.S332F	VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000542001.1_5'Flank|GTF2H4_ENST00000376316.2_Missense_Mutation_p.S332F	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	332					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GCCCTCTTCTCTGAGATGCTC	0.597								Nucleotide excision repair (NER)																																									0													117	105	109					6																	30880141		1511	2709	4220	SO:0001583	missense	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.995C>T	6.37:g.30880141C>T	ENSP00000259895:p.Ser332Phe		B4DTJ5|Q76KU4	Missense_Mutation	SNP	pfam_Tfb2,tigrfam_Tfb2	p.S332F	ENST00000259895.4	37	c.995	CCDS34386.1	6	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513223	0.64522	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	T;T	0.44083	0.93;0.93	5.2	5.2	0.72013	.	0.153499	0.42420	U	0.000707	T	0.58192	0.2105	M	0.77103	2.36	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.67103	0.949;0.949	T	0.63834	-0.6547	10	0.72032	D	0.01	-34.0447	16.2408	0.82408	0.0:1.0:0.0:0.0	.	338;332	B4DNU0;Q92759	.;TF2H4_HUMAN	F	332	ENSP00000259895:S332F;ENSP00000365493:S332F	ENSP00000259895:S332F	S	+	2	0	GTF2H4	30988120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.716000	0.61916	2.442000	0.82660	0.591000	0.81541	TCT	GTF2H4	-	pfam_Tfb2,tigrfam_Tfb2		0.597	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H4	HGNC	protein_coding	OTTHUMT00000076044.3	C	NM_001517		30880141	1	no_errors	ENST00000259895	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30880141	C	T	30880141	3	4	168	1	0	0	0	0	1	0	0	0	6885	913	32	1	1033	1	GTF2H4	6	30880141	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	354956	30880141	140234926	165	31882										
C2	717	genome.wustl.edu	37	chr6	31902038	31902038	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtgtgtcggaaaatgactttCtcatcttcaaggagagcgcc	11	9	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:31902038C>G	ENST00000299367.5	+	6	1087	c.811C>G	c.(811-813)Ctc>Gtc	p.L271V	C2_ENST00000442278.2_Missense_Mutation_p.L139V|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000418949.2_Missense_Mutation_p.L271V|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	271	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AAATGACTTTCTCATCTTCAA	0.537																																																	0													166	159	162					6																	31902038		2203	4300	6503	SO:0001583	missense	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.811C>G	6.37:g.31902038C>G	ENSP00000299367:p.Leu271Val		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	pfam_VWF_A,pfam_Peptidase_S1_S6,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L271V	ENST00000299367.5	37	c.811	CCDS4728.1	6	.	.	.	.	.	.	.	.	.	.	C	5.598	0.295127	0.10622	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000418949;ENST00000494905	T;D;D;T;T	0.82984	-1.13;-1.67;-1.67;-1.13;-1.13	4.94	-9.88	0.00467	von Willebrand factor, type A (3);	5.647610	0.00424	N	0.000061	T	0.50222	0.1603	.	.	.	0.09310	N	1	B;B;B;B	0.19817	0.011;0.002;0.001;0.039	B;B;B;B	0.16289	0.012;0.011;0.001;0.015	T	0.54193	-0.8330	9	0.30078	T	0.28	5.4178	13.1212	0.59327	0.3945:0.091:0.5145:0.0	.	242;139;271;271	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	V	148;271;139;271;130	ENSP00000406121:L148V;ENSP00000299367:L271V;ENSP00000395683:L139V;ENSP00000406190:L271V;ENSP00000419048:L130V	ENSP00000299367:L271V	L	+	1	0	C2	32010017	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.195000	0.00276	-3.625000	0.00130	-0.176000	0.13171	CTC	C2	-	pfam_VWF_A,smart_VWF_A,pirsf_Compl_C2_B,pfscan_VWF_A		0.537	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2	HGNC	protein_coding	OTTHUMT00000076379.9	C			31902038	1	no_errors	ENST00000299367	ensembl	human	known	70_37	missense	SNP	0.000	G	G	31902038	C	G	31902038	3	3	168	1	0	0	0	0	1	0	0	0	2079	913	32	1	910	1	C2	6	31902038	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1021897	31902038	139213029	166	31883										
TNXB	7148	genome.wustl.edu	37	chr6	32023869	32023869	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggggaggatcctgtcactgtCagctcccccaggagcggctc	14	14	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:32023869C>T	ENST00000375244.3	-	24	8427	c.8226G>A	c.(8224-8226)ctG>ctA	p.L2742L	TNXB_ENST00000375247.2_Silent_p.L2742L			P22105	TENX_HUMAN	tenascin XB	2800	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTCACTGTCAGCTCCCCCA	0.637																																																	0													50	56	54					6																	32023869		1221	2523	3744	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8226G>A	6.37:g.32023869C>T			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L2742	ENST00000375244.3	37	c.8226		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	C	NM_019105		32023869	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	silent	SNP	0.997	T	T	32023869	C	T	32023869	2	4	168	1	0	0	0	0	0	0	0	1	16376	813	29	1		1	TNXB	6	32023869	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	121831	32023869	139091198	167	31884										
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34801995	34801995	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tctacctcatttgttgtagtGaatatggctttgccgaaaag	9	7	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:34801995G>A	ENST00000192788.5	+	5	511	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	UHRF1BP1_ENST00000452449.2_Splice_Site_p.E114K	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	114							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTGTTGTAGTGAATATGGCTT	0.358																																																	0													106	95	99					6																	34801995		1900	4122	6022	SO:0001630	splice_region_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.339-1G>A	6.37:g.34801995G>A			Q9NXE0	Missense_Mutation	SNP	NULL	p.E114K	ENST00000192788.5	37	c.340	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657267	0.88154	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.07567	3.18;3.18	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.03684	-1.1013	10	0.52906	T	0.07	-22.8245	18.0673	0.89395	0.0:0.0:1.0:0.0	.	114	Q6BDS2	URFB1_HUMAN	K	114	ENSP00000192788:E114K;ENSP00000400628:E114K	ENSP00000192788:E114K	E	+	1	0	UHRF1BP1	34909973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.597000	0.98273	2.507000	0.84556	0.655000	0.94253	GAA	UHRF1BP1	-	NULL		0.358	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	G	NM_017754	Missense_Mutation	34801995	1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34801995	G	A	34801995	5	1	168	1	0	0	0	0	0	0	1	0	16999	1304	45	1	358	1	UHRF1BP1	6	34801995	Splice_Site	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2778126	34801995	136313072	168	31885										
TREM1	54210	genome.wustl.edu	37	chr6	41250403	41250403	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctggctgctggcaaacttctCtagcgtgtagtcacatttca	9	11	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:41250403C>G	ENST00000244709.4	-	2	199	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	TREM1_ENST00000589614.1_Missense_Mutation_p.E46Q|TREM1_ENST00000591620.1_Missense_Mutation_p.E46Q|TREM1_ENST00000334475.6_Missense_Mutation_p.E46Q	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	46	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCAAACTTCTCTAGCGTGTAG	0.483																																																	0													131	132	132					6																	41250403		2203	4300	6503	SO:0001583	missense	54210			AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.136G>C	6.37:g.41250403C>G	ENSP00000244709:p.Glu46Gln		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub	p.E46Q	ENST00000244709.4	37	c.136	CCDS4854.1	6	.	.	.	.	.	.	.	.	.	.	C	0.128	-1.117371	0.01799	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.21734	1.99;1.99	4.37	-8.74	0.00838	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	4.542010	0.00357	N	0.000030	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10753	-1.0616	10	0.22706	T	0.39	4.2863	2.4721	0.04566	0.198:0.3787:0.0971:0.3262	.	46;46	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	Q	46	ENSP00000244709:E46Q;ENSP00000334284:E46Q	ENSP00000244709:E46Q	E	-	1	0	TREM1	41358381	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.926000	0.00004	-4.571000	0.00042	-1.569000	0.00873	GAG	TREM1	-	pfam_Ig_V-set,smart_Ig_sub		0.483	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREM1	HGNC	protein_coding	OTTHUMT00000040505.2	C	NM_018643		41250403	-1	no_errors	ENST00000244709	ensembl	human	known	70_37	missense	SNP	0.000	G	G	41250403	C	G	41250403	3	3	168	1	0	0	0	0	1	0	0	0	16501	922	32	1	580	1	TREM1	6	41250403	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6448408	41250403	129864664	169	31886										
KIAA0240	23506	genome.wustl.edu	37	chr6	42796330	42796330	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtagcctccagtttcttgaaGatgaactcgagtcttctcct	8	11	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:42796330G>C	ENST00000314073.5	+	6	435	c.259G>C	c.(259-261)Gat>Cat	p.D87H	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D87H			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	87																	GTTTCTTGAAGATGAACTCGA	0.468																																																	0													114	99	104					6																	42796330		2203	4300	6503	SO:0001583	missense	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.259G>C	6.37:g.42796330G>C	ENSP00000313933:p.Asp87His		A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.D87H	ENST00000314073.5	37	c.259	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344045	0.61073	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.69806	-0.43;-0.43	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.79587	0.4471	M	0.68593	2.085	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.988;0.998;0.996	T	0.79463	-0.1793	10	0.87932	D	0	-21.3665	20.4375	0.99097	0.0:0.0:1.0:0.0	.	87;87;87	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	H	87	ENSP00000313933:D87H;ENSP00000377723:D87H	ENSP00000313933:D87H	D	+	1	0	KIAA0240	42904308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.219000	0.78000	2.906000	0.99361	0.655000	0.94253	GAT	KIAA0240	-	NULL		0.468	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	G	NM_015349		42796330	1	no_errors	ENST00000314073	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42796330	G	C	42796330	3	2	168	1	0	0	0	0	1	0	0	0	8184	942	33	1	273	1	KIAA0240	6	42796330	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1545927	42796330	128318737	170	31887										
COL21A1	81578	genome.wustl.edu	37	chr6	56047395	56047395	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagcaccaaaaccatgcagaGaaatgtaatatagtgagcca	8	9	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:56047395G>C	ENST00000244728.5	-	2	419	c.22C>G	c.(22-24)Ctc>Gtc	p.L8V	COL21A1_ENST00000535941.1_Missense_Mutation_p.L8V|COL21A1_ENST00000370819.1_Missense_Mutation_p.L8V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	8					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCATGCAGAGAAATGTAATA	0.338																																																	0													104	106	105					6																	56047395		1835	4094	5929	SO:0001583	missense	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.22C>G	6.37:g.56047395G>C	ENSP00000244728:p.Leu8Val		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.L8V	ENST00000244728.5	37	c.22	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.310996	0.01342	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370817	D;D;D;T	0.90133	-2.62;-2.55;-2.61;-0.42	4.03	-0.305	0.12784	.	0.462307	0.17697	N	0.165078	T	0.68979	0.3060	N	0.24115	0.695	0.09310	N	1	B;B	0.28971	0.229;0.147	B;B	0.30572	0.117;0.055	T	0.63475	-0.6629	10	0.66056	D	0.02	.	5.8882	0.18894	0.2434:0.4117:0.3449:0.0	.	8;8	Q96P44-3;Q96P44	.;COLA1_HUMAN	V	8	ENSP00000244728:L8V;ENSP00000359855:L8V;ENSP00000444384:L8V;ENSP00000359853:L8V	ENSP00000244728:L8V	L	-	1	0	COL21A1	56155354	0.920000	0.31207	0.084000	0.20598	0.003000	0.03518	-0.099000	0.11007	0.019000	0.15079	-0.150000	0.13652	CTC	COL21A1	-	NULL		0.338	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	G			56047395	-1	no_errors	ENST00000244728	ensembl	human	known	70_37	missense	SNP	0.005	C	C	56047395	G	C	56047395	3	2	168	1	0	0	0	0	1	0	0	0	3685	942	33	1	2967	1	COL21A1	6	56047395	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	13251065	56047395	115067672	171	31888										
DST	667	genome.wustl.edu	37	chr6	56374567	56374567	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acattcttattttcactgatCtgttccttgatcttctcaac	3	11	5	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:56374567C>G	ENST00000361203.3	-	69	17932	c.17925G>C	c.(17923-17925)caG>caC	p.Q5975H	DST_ENST00000370769.4_Missense_Mutation_p.Q6086H|DST_ENST00000421834.2_Missense_Mutation_p.Q3998H|DST_ENST00000446842.2_Missense_Mutation_p.Q5760H|DST_ENST00000370788.2_Missense_Mutation_p.Q3889H|DST_ENST00000340834.4_5'UTR|DST_ENST00000370754.5_Missense_Mutation_p.Q6264H|DST_ENST00000244364.6_Missense_Mutation_p.Q3672H|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5976					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTCACTGATCTGTTCCTTGA	0.458																																																	0													136	122	127					6																	56374567		1899	4138	6037	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17925G>C	6.37:g.56374567C>G	ENSP00000354508:p.Gln5975His		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q6264H	ENST00000361203.3	37	c.18792		6	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765733	0.49574	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.76	1.01	0.19927	.	0.000000	0.47455	D	0.000226	T	0.50120	0.1597	M	0.61703	1.905	0.33162	D	0.547081	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.998;0.999;0.995	T	0.54377	-0.8303	9	0.46703	T	0.11	.	11.8096	0.52175	0.0:0.6153:0.0:0.3847	.	3998;6086;6264;6084;3672	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	3672;6264;6086;3998;5760;3889;5975;88	ENSP00000244364:Q3672H;ENSP00000359790:Q6264H;ENSP00000359805:Q6086H;ENSP00000400883:Q3998H;ENSP00000393645:Q5760H;ENSP00000359824:Q3889H;ENSP00000354508:Q5975H	ENSP00000244364:Q3672H	Q	-	3	2	DST	56482526	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.021000	0.30040	0.236000	0.21180	0.655000	0.94253	CAG	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56374567	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56374567	C	G	56374567	3	3	168	1	0	0	0	0	1	0	0	0	4793	912	32	1	4619	1	DST	6	56374567	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	327172	56374567	114740500	172	31889										
LMBRD1	55788	genome.wustl.edu	37	chr6	70411822	70411822	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acaaacagcaatgcaactaaGatgaaaaatattccccagac	5	10	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:70411822G>T	ENST00000370577.3	-	10	1168	c.939C>A	c.(937-939)atC>atA	p.I313I	LMBRD1_ENST00000370570.1_Silent_p.I240I	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	313					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATGCAACTAAGATGAAAAATA	0.249																																																	0													58	58	58					6																	70411822		2202	4286	6488	SO:0001819	synonymous_variant	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.939C>A	6.37:g.70411822G>T			A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	pfam_LMBR1-like_membr_prot	p.I313	ENST00000370577.3	37	c.939	CCDS4969.1	6																																																																																			LMBRD1	-	NULL		0.249	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	G	NM_018368		70411822	-1	no_errors	ENST00000370577	ensembl	human	known	70_37	silent	SNP	1.000	T	T	70411822	G	T	70411822	2	4	168	1	0	0	0	0	0	0	0	1	8863	932	33	3		3	LMBRD1	6	70411822	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	14037255	70411822	100703245	173	31890										
RIMS1	22999	genome.wustl.edu	37	chr6	72678707	72678707	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtgttgtcagggacatggcGaagcctgctgcctgcaaaac	13	10	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:72678707G>A	ENST00000521978.1	+	2	186	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RIMS1_ENST00000348717.5_Silent_p.A62A|RIMS1_ENST00000264839.7_Silent_p.A62A|RIMS1_ENST00000517960.1_Silent_p.A62A|RIMS1_ENST00000518273.1_Silent_p.A62A|RIMS1_ENST00000522291.1_Silent_p.A62A|RIMS1_ENST00000520567.1_Silent_p.A62A|RIMS1_ENST00000491071.2_Silent_p.A62A	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	62	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACATGGCGAAGCCTGCTG	0.453																																																	0													128	132	130					6																	72678707		1932	4130	6062	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.186G>A	6.37:g.72678707G>A			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.A62	ENST00000521978.1	37	c.186	CCDS47449.1	6																																																																																			RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.453	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72678707	1	no_errors	ENST00000521978	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72678707	G	A	72678707	2	1	168	1	0	0	0	0	0	0	0	1	13397	1045	37	1		1	RIMS1	6	72678707	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2266885	72678707	98436360	174	31891										
RIMS1	22999	genome.wustl.edu	37	chr6	72892124	72892124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	caaagaaaggcgggaaagccGaaggcttgagaaagggcgat	16	6	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:72892124G>A	ENST00000521978.1	+	6	950	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	RIMS1_ENST00000348717.5_Missense_Mutation_p.R317Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.R317Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R317Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R317Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R317Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R317Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R317Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	317					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CGGGAAAGCCGAAGGCTTGAG	0.592																																																	0													34	42	39					6																	72892124		1922	4131	6053	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.950G>A	6.37:g.72892124G>A	ENSP00000428417:p.Arg317Gln		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.R317Q	ENST00000521978.1	37	c.950	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015480	0.75161	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.15139	2.45;2.59;2.51;2.59;2.6;2.6;2.59;2.5	4.84	4.84	0.62591	.	0.000000	0.56097	D	0.000031	T	0.17280	0.0415	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	P	0.53689	0.732	T	0.06409	-1.0828	10	0.09084	T	0.74	-9.7604	17.9636	0.89093	0.0:0.0:1.0:0.0	.	317	Q86UR5	RIMS1_HUMAN	Q	317	ENSP00000430101:R317Q;ENSP00000275037:R317Q;ENSP00000264839:R317Q;ENSP00000429959:R317Q;ENSP00000430408:R317Q;ENSP00000430502:R317Q;ENSP00000430932:R317Q;ENSP00000428417:R317Q	ENSP00000264839:R317Q	R	+	2	0	RIMS1	72948845	1.000000	0.71417	0.997000	0.53966	0.798000	0.45092	3.431000	0.52814	2.231000	0.72958	0.462000	0.41574	CGA	RIMS1	-	NULL		0.592	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72892124	1	no_errors	ENST00000521978	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72892124	G	A	72892124	3	1	168	1	0	0	0	0	1	0	0	0	13397	1058	37	1	972	1	RIMS1	6	72892124	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	213417	72892124	98222943	175	31892										
FILIP1	27145	genome.wustl.edu	37	chr6	76072464	76072464	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggtgtcatatttttacctctGaaatcggtttctcatagaca	7	8	3	2	rs139907750		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:76072464G>T	ENST00000237172.7	-	3	776	c.446C>A	c.(445-447)tCa>tAa	p.S149*	RP11-415D17.3_ENST00000440220.1_RNA|FILIP1_ENST00000370020.1_Nonsense_Mutation_p.S50*|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000609544.1_RNA|FILIP1_ENST00000393004.2_Nonsense_Mutation_p.S149*|RP11-415D17.3_ENST00000591821.2_RNA|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	149								p.S149*(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTACCTCTGAAATCGGTTT	0.463																																																	1	Substitution - Nonsense(1)	skin(1)											77	76	77					6																	76072464		2203	4300	6503	SO:0001587	stop_gained	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.446C>A	6.37:g.76072464G>T	ENSP00000237172:p.Ser149*		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.S149*	ENST00000237172.7	37	c.446	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.610900	0.97705	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.99	5.99	0.97316	.	0.067401	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5211	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	X	149;149;50	.	ENSP00000237172:S149X	S	-	2	0	FILIP1	76129184	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	5.675000	0.68123	2.840000	0.97914	0.655000	0.94253	TCA	FILIP1	-	pfam_Cortactin-binding_p2_N		0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	G	XM_029179		76072464	-1	no_errors	ENST00000237172	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	76072464	G	T	76072464	4	4	168	1	0	0	0	0	0	1	0	0	5912	1294	45	3	3211	3	FILIP1	6	76072464	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3180340	76072464	95042603	176	31893										
NR2E1	7101	genome.wustl.edu	37	chr6	108508587	108508587	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttagcccatcaactatagaaGaagtgtttttcaaaaaaacc	5	8	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:108508587G>A	ENST00000368986.4	+	9	1786	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	NR2E1_ENST00000368983.3_Missense_Mutation_p.E397K	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	360	Required for transcriptional repression. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E360K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AACTATAGAAGAAGTGTTTTT	0.403																																																	1	Substitution - Missense(1)	skin(1)											176	171	173					6																	108508587		2203	4300	6503	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.1078G>A	6.37:g.108508587G>A	ENSP00000357982:p.Glu360Lys		Q6ZMP8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E360K	ENST00000368986.4	37	c.1078	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454710	0.63290	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	T;T	0.69040	-0.37;-0.37	5.73	5.73	0.89815	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.043850	0.85682	D	0.000000	T	0.71307	0.3324	M	0.67397	2.05	0.80722	D	1	D	0.54397	0.966	P	0.56343	0.796	T	0.65549	-0.6141	10	0.24483	T	0.36	.	19.8807	0.96899	0.0:0.0:1.0:0.0	.	360	Q9Y466	NR2E1_HUMAN	K	360;397	ENSP00000357982:E360K;ENSP00000357979:E397K	ENSP00000357979:E397K	E	+	1	0	NR2E1	108615280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.468000	0.97676	2.716000	0.92895	0.655000	0.94253	GAA	NR2E1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd		0.403	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	G			108508587	1	no_errors	ENST00000368986	ensembl	human	known	70_37	missense	SNP	1.000	A	A	108508587	G	A	108508587	3	1	168	1	0	0	0	0	1	0	0	0	10649	943	33	1	1112	1	NR2E1	6	108508587	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	32436123	108508587	62606480	177	31894										
RSPH4A	345895	genome.wustl.edu	37	chr6	116938064	116938064	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tccgcgggagccctcttcctCtccttctcccctggctccgg	9	20	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:116938064C>G	ENST00000229554.5	+	1	415	c.278C>G	c.(277-279)tCt>tGt	p.S93C	RSPH4A_ENST00000368581.4_Missense_Mutation_p.S93C|RSPH4A_ENST00000368580.4_Missense_Mutation_p.S93C	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	93					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCCTCTTCCTCTCCTTCTCCC	0.627									Kartagener syndrome																																								0													38	44	42					6																	116938064		2203	4300	6503	SO:0001583	missense	345895	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.278C>G	6.37:g.116938064C>G	ENSP00000229554:p.Ser93Cys		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	pfam_Radial_spoke	p.S93C	ENST00000229554.5	37	c.278	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955313	0.34471	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.65549	-0.16;1.46;1.45	4.12	1.14	0.20703	.	1.684940	0.02944	N	0.140900	T	0.25005	0.0607	N	0.19112	0.55	0.09310	N	1	B;B	0.33448	0.412;0.289	B;B	0.35073	0.195;0.06	T	0.18713	-1.0328	10	0.38643	T	0.18	1.6757	3.5788	0.07945	0.0:0.539:0.2094:0.2516	.	93;93	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	C	93	ENSP00000357570:S93C;ENSP00000229554:S93C;ENSP00000357569:S93C	ENSP00000229554:S93C	S	+	2	0	RSPH4A	117044757	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.363000	0.07593	0.238000	0.21222	0.650000	0.86243	TCT	RSPH4A	-	NULL		0.627	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	C	NM_001010892		116938064	1	no_errors	ENST00000229554	ensembl	human	known	70_37	missense	SNP	0.000	G	G	116938064	C	G	116938064	3	3	168	1	0	0	0	0	1	0	0	0	13736	913	32	1	280	1	RSPH4A	6	116938064	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	8429477	116938064	54177003	178	31895										
FAM184A	79632	genome.wustl.edu	37	chr6	119297141	119297141	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tttagcagctgccaattcttGatgatgattatgccgtaaca	8	8	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr6:119297141G>A	ENST00000338891.7	-	12	2967	c.2524C>T	c.(2524-2526)Caa>Taa	p.Q842*	FAM184A_ENST00000368475.4_Nonsense_Mutation_p.Q722*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.Q842*|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.Q722*|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	842						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCCAATTCTTGATGATGATTA	0.388																																																	0													98	92	94					6																	119297141		1872	4115	5987	SO:0001587	stop_gained	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2524C>T	6.37:g.119297141G>A	ENSP00000342604:p.Gln842*		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q842*	ENST00000338891.7	37	c.2524	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	G	44	10.646074	0.99443	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	.	.	.	5.21	5.21	0.72293	.	0.126644	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-16.0815	18.7445	0.91787	0.0:0.0:1.0:0.0	.	.	.	.	X	5;842;722;722;842	.	ENSP00000342604:Q842X	Q	-	1	0	FAM184A	119338840	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	4.757000	0.62213	2.437000	0.82529	0.563000	0.77884	CAA	FAM184A	-	NULL		0.388	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	G	NM_024581		119297141	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	nonsense	SNP	0.939	A	A	119297141	G	A	119297141	4	1	168	1	0	0	0	0	0	1	0	0	5526	1299	45	1	926	1	FAM184A	6	119297141	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2359077	119297141	51817926	179	31896										
CHST12	55501	genome.wustl.edu	37	chr7	2472514	2472514	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcagtgctggcgtgaagcaGagcgaccttcccagaaagga	13	11	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:2472514G>C	ENST00000258711.6	+	2	375	c.240G>C	c.(238-240)caG>caC	p.Q80H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	80					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGTGAAGCAGAGCGACCTTC	0.687																																																	0													36	43	41					7																	2472514		2203	4300	6503	SO:0001583	missense	55501			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.240G>C	7.37:g.2472514G>C	ENSP00000258711:p.Gln80His		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	pfam_Sulfotransferase	p.Q80H	ENST00000258711.6	37	c.240	CCDS5333.1	7	.	.	.	.	.	.	.	.	.	.	G	0.276	-0.989648	0.02162	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.61980	0.06;0.9	4.76	-0.587	0.11690	.	2.669440	0.01381	N	0.012928	T	0.44329	0.1288	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13710	-1.0499	10	0.37606	T	0.19	-12.5458	0.752	0.00992	0.2288:0.1395:0.3621:0.2696	.	80	Q9NRB3	CHSTC_HUMAN	H	80	ENSP00000258711:Q80H;ENSP00000411207:Q80H	ENSP00000258711:Q80H	Q	+	3	2	CHST12	2439040	0.010000	0.17322	0.000000	0.03702	0.008000	0.06430	0.646000	0.24797	-0.183000	0.10585	-0.310000	0.09108	CAG	CHST12	-	NULL		0.687	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	HGNC	protein_coding	OTTHUMT00000060170.3	G	NM_018641		2472514	1	no_errors	ENST00000258711	ensembl	human	known	70_37	missense	SNP	0.000	C	C	2472514	G	C	2472514	3	2	168	1	0	0	0	0	1	0	0	0	3405	933	33	1	242	1	CHST12	7	2472514	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		2472514	156666149	180	31897										
CHST12	55501	genome.wustl.edu	37	chr7	2473301	2473301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acgacttcgtggggaagctgGagactctggacgaggacgcc	16	10	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:2473301G>A	ENST00000258711.6	+	2	1162	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	343					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGGGAAGCTGGAGACTCTGGA	0.677																																																	0													44	45	45					7																	2473301		2203	4300	6503	SO:0001583	missense	55501			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1027G>A	7.37:g.2473301G>A	ENSP00000258711:p.Glu343Lys		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	pfam_Sulfotransferase	p.E343K	ENST00000258711.6	37	c.1027	CCDS5333.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.107379	0.94292	.	.	ENSG00000136213	ENST00000258711	T	0.50548	0.74	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84226	0.0464	10	0.72032	D	0.01	-9.4085	18.6277	0.91347	0.0:0.0:1.0:0.0	.	343	Q9NRB3	CHSTC_HUMAN	K	343	ENSP00000258711:E343K	ENSP00000258711:E343K	E	+	1	0	CHST12	2439827	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.575000	0.98187	2.417000	0.82017	0.561000	0.74099	GAG	CHST12	-	pfam_Sulfotransferase		0.677	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	HGNC	protein_coding	OTTHUMT00000060170.3	G	NM_018641		2473301	1	no_errors	ENST00000258711	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2473301	G	A	2473301	3	1	168	1	0	0	0	0	1	0	0	0	3405	1175	41	1	1029	1	CHST12	7	2473301	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	787	2473301	156665362	181	31898										
TMEM196	256130	genome.wustl.edu	37	chr7	19812188	19812188	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cataccggggacgagtctccGagctgcggcttgtgctctcg	14	13	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:19812188G>A	ENST00000405764.3	-	1	828	c.132C>T	c.(130-132)ctC>ctT	p.L44L	TMEM196_ENST00000405844.1_Silent_p.L44L|TMEM196_ENST00000422233.1_Intron|TMEM196_ENST00000493519.1_Intron|TMEM196_ENST00000433641.1_Intron	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	44						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						ACGAGTCTCCGAGCTGCGGCT	0.617																																																	0													24	34	31					7																	19812188		692	1591	2283	SO:0001819	synonymous_variant	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.132C>T	7.37:g.19812188G>A			Q8N6I6	Silent	SNP	NULL	p.L44	ENST00000405764.3	37	c.132	CCDS34607.2	7																																																																																			TMEM196	-	NULL		0.617	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM196	HGNC	protein_coding	OTTHUMT00000326499.1	G	NM_152774		19812188	-1	no_errors	ENST00000405764	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19812188	G	A	19812188	2	1	168	1	0	0	0	0	0	0	0	1	16148	1045	37	1		1	TMEM196	7	19812188	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	17338887	19812188	139326475	182	31899										
KLHL7	55975	genome.wustl.edu	37	chr7	23164752	23164752	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgtgaagaaaatgtgtgttGattttttgaaagaacaagtt	10	2	0	5			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:23164752G>C	ENST00000339077.5	+	4	646	c.403G>C	c.(403-405)Gat>Cat	p.D135H	KLHL7_ENST00000545771.1_Missense_Mutation_p.D113H|KLHL7_ENST00000539124.1_Missense_Mutation_p.D59H|KLHL7_ENST00000545443.1_Missense_Mutation_p.D113H|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000322231.7_Missense_Mutation_p.D113H|KLHL7_ENST00000409689.1_Missense_Mutation_p.D87H|KLHL7_ENST00000410047.1_Missense_Mutation_p.D113H|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000322275.5_Missense_Mutation_p.D135H	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	135					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGTGTGTTGATTTTTTGAA	0.313																																																	0													99	103	101					7																	23164752		2203	4299	6502	SO:0001583	missense	55975				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.403G>C	7.37:g.23164752G>C	ENSP00000343273:p.Asp135His		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D135H	ENST00000339077.5	37	c.403	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888858	0.91814	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000322275;ENST00000539124;ENST00000409689;ENST00000410047;ENST00000545771;ENST00000545443	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.78	5.78	0.91487	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.048554	0.85682	D	0.000000	T	0.81118	0.4756	L	0.57536	1.79	0.80722	D	1	D;P;P;P;D	0.64830	0.994;0.832;0.799;0.937;0.98	P;P;B;P;P	0.60473	0.875;0.499;0.366;0.694;0.847	T	0.78949	-0.2002	10	0.45353	T	0.12	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	113;135;113;135;113	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	H	113;135;135;59;87;113;113;113	ENSP00000322958:D113H;ENSP00000343273:D135H;ENSP00000323270:D135H;ENSP00000441136:D59H;ENSP00000386263:D87H;ENSP00000386999:D113H;ENSP00000446445:D113H;ENSP00000442366:D113H	ENSP00000322958:D113H	D	+	1	0	KLHL7	23131277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.894000	0.99253	0.655000	0.94253	GAT	KLHL7	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.313	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	G	NM_018846		23164752	1	no_errors	ENST00000339077	ensembl	human	known	70_37	missense	SNP	1.000	C	C	23164752	G	C	23164752	3	2	168	1	0	0	0	0	1	0	0	0	8414	1290	45	1	417	1	KLHL7	7	23164752	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3352564	23164752	135973911	183	31900										
STK17A	9263	genome.wustl.edu	37	chr7	43663453	43663453	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttttgtctgagtcggctgttGatttcatcaggacactttta	9	7	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:43663453G>A	ENST00000319357.5	+	6	1065	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	296	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GTCGGCTGTTGATTTCATCAG	0.259																																																	0													93	92	92					7																	43663453		2203	4295	6498	SO:0001583	missense	9263			AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"death-associated protein kinase-related 1"	604726	"serine/threonine kinase 17a (apoptosis-inducing)"			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.886G>A	7.37:g.43663453G>A	ENSP00000319192:p.Asp296Asn		A4D1V6|Q8IVC8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D296N	ENST00000319357.5	37	c.886	CCDS5470.1	7	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282538	0.23392	.	.	ENSG00000164543	ENST00000319357	T	0.47177	0.85	4.82	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000152	T	0.48259	0.1490	M	0.65677	2.01	0.80722	D	1	B	0.28419	0.211	B	0.30855	0.121	T	0.51012	-0.8759	10	0.62326	D	0.03	.	13.168	0.59581	0.0781:0.0:0.9219:0.0	.	296	Q9UEE5	ST17A_HUMAN	N	296	ENSP00000319192:D296N	ENSP00000319192:D296N	D	+	1	0	STK17A	43629978	1.000000	0.71417	0.942000	0.38095	0.049000	0.14656	3.080000	0.50112	0.986000	0.38683	0.557000	0.71058	GAT	STK17A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.259	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17A	HGNC	protein_coding	OTTHUMT00000250902.1	G	NM_004760		43663453	1	no_errors	ENST00000319357	ensembl	human	known	70_37	missense	SNP	0.998	A	A	43663453	G	A	43663453	3	1	168	1	0	0	0	0	1	0	0	0	15320	1290	45	1	908	1	STK17A	7	43663453	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	20498701	43663453	115475210	184	31901										
AEBP1	165	genome.wustl.edu	37	chr7	44151818	44151818	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tttgaagatttcccggatctCaactctgtgctctggggagc	11	10	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:44151818C>G	ENST00000223357.3	+	17	2420	c.2115C>G	c.(2113-2115)ctC>ctG	p.L705L	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.L280L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	705	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TCCCGGATCTCAACTCTGTGC	0.577																																																	0													76	76	76					7																	44151818		2203	4300	6503	SO:0001819	synonymous_variant	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2115C>G	7.37:g.44151818C>G			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.L705	ENST00000223357.3	37	c.2115	CCDS5476.1	7																																																																																			AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.577	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	C	NM_001129		44151818	1	no_errors	ENST00000223357	ensembl	human	known	70_37	silent	SNP	1.000	G	G	44151818	C	G	44151818	2	3	168	1	0	0	0	0	0	0	0	1	349	813	29	1		1	AEBP1	7	44151818	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	488365	44151818	114986845	185	31902										
ZNF716	441234	genome.wustl.edu	37	chr7	57529078	57529078	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atgtgaagaatgtggcaaagCctttagccgctcttcaacac	9	10	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:57529078C>A	ENST00000420713.1	+	4	1023	c.911C>A	c.(910-912)gCc>gAc	p.A304D		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGTGGCAAAGCCTTTAGCCGC	0.423																																																	0													38	37	38					7																	57529078		692	1591	2283	SO:0001583	missense	441234			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.911C>A	7.37:g.57529078C>A	ENSP00000394248:p.Ala304Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A304D	ENST00000420713.1	37	c.911	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556672	0.27827	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.01005	5.45	0.109	0.109	0.14578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	M	0.67953	2.075	0.22675	N	0.998867	D	0.59767	0.986	P	0.57720	0.826	T	0.44574	-0.9319	9	0.72032	D	0.01	.	3.7025	0.08387	2.0E-4:0.5106:0.4891:1.0E-4	.	292	A6NP11	ZN716_HUMAN	D	304;292	ENSP00000394248:A304D	ENSP00000387687:A292D	A	+	2	0	ZNF716	57533020	0.000000	0.05858	0.149000	0.22428	0.150000	0.21749	-0.296000	0.08287	0.181000	0.19994	0.184000	0.17185	GCC	ZNF716	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	C	NM_001159279		57529078	1	no_errors	ENST00000420713	ensembl	human	known	70_37	missense	SNP	0.720	A	A	57529078	C	A	57529078	3	1	168	1	0	0	0	0	1	0	0	0	18149	739	26	4	925	4	ZNF716	7	57529078	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	13377260	57529078	101609585	186	31903										
ABHD11	83451	genome.wustl.edu	37	chr7	73152310	73152310	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcctggctgggtggcaatctCggagaatgccaggaaggaga	17	8	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:73152310C>T	ENST00000222800.3	-	3	358				ABHD11_ENST00000437775.2_Intron|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Intron|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000468998.1_5'UTR	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11							mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGGCAATCTCGGAGAATGCC	0.582																																																	0													59	64	62					7																	73152310		692	1591	2283	SO:0001627	intron_variant	83451			AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"Abhydrolase domain containing"	16407	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 21"	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.289-245G>A	7.37:g.73152310C>T			H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	RNA	SNP	-	NULL	ENST00000222800.3	37	NULL	CCDS5558.1	7																																																																																			ABHD11	-	-		0.582	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD11	HGNC	protein_coding	OTTHUMT00000252306.1	C			73152310	-1	no_errors	ENST00000468998	ensembl	human	known	70_37	rna	SNP	0.006	T	T	73152310	C	T	73152310	1	4	168	0	1	0	0	0	0	0	0	0	75	893	31	1		1	ABHD11	7	73152310	Intron	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	15623232	73152310	85986353	187	31904										
GTF2IRD2	84163	genome.wustl.edu	37	chr7	74211261	74211261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gataacctccatctggagctCctcgtgcacactgtcgatct	8	14	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:74211261C>T	ENST00000405086.2	-	16	2779	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.E411K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	864					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						atctggagctcctcgtgcaca	0.498																																					NSCLC(40;560 1096 7501 40315 49546)												0													2	2	2					7																	74211261		896	1974	2870	SO:0001583	missense	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.2590G>A	7.37:g.74211261C>T	ENSP00000385491:p.Glu864Lys		A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.E864K	ENST00000405086.2	37	c.2590	CCDS5576.1	7	.	.	.	.	.	.	.	.	.	.	c	2.515	-0.312129	0.05422	.	.	ENSG00000196275	ENST00000405086;ENST00000451013	T;T	0.20200	2.09;2.09	1.84	1.84	0.25277	Ribonuclease H-like (1);	.	.	.	.	T	0.10981	0.0268	N	0.17723	0.515	0.80722	D	1	B	0.19200	0.034	B	0.17098	0.017	T	0.12243	-1.0555	9	0.15499	T	0.54	-7.3786	7.369	0.26790	0.0:1.0:0.0:0.0	.	864	Q86UP8	GTD2A_HUMAN	K	864;411	ENSP00000385491:E864K;ENSP00000406723:E411K	ENSP00000385491:E864K	E	-	1	0	GTF2IRD2	73849197	0.054000	0.20591	0.842000	0.33263	0.895000	0.52256	0.700000	0.25601	1.380000	0.46344	0.442000	0.29010	GAG	GTF2IRD2	-	superfamily_RNaseH-like_dom		0.498	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2	HGNC	protein_coding	OTTHUMT00000252712.3	C	NM_173537		74211261	-1	no_errors	ENST00000405086	ensembl	human	known	70_37	missense	SNP	0.885	T	T	74211261	C	T	74211261	3	4	168	1	0	0	0	0	1	0	0	0	6889	864	30	1	263	1	GTF2IRD2	7	74211261	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1058951	74211261	84927402	188	31905										
UPK3B	80761	genome.wustl.edu	37	chr7	76144472	76144472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagagaggccgccacactgcCggtgggctgcaagcctggcc	15	15	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:76144472C>T	ENST00000257632.5	+	4	995	c.867C>T	c.(865-867)gcC>gcT	p.A289A	UPK3B_ENST00000394849.1_Silent_p.A234A|UPK3B_ENST00000419923.2_Silent_p.A289A|UPK3B_ENST00000334348.3_Missense_Mutation_p.P261L|UPK3B_ENST00000448265.3_Silent_p.A289A|UPK3B_ENST00000443097.2_Missense_Mutation_p.P261L			Q9BT76	UPK3B_HUMAN	uroplakin 3B	289					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCCACACTGCCGGTGGGCTGC	0.697																																																	0													18	19	18					7																	76144472		2201	4289	6490	SO:0001819	synonymous_variant	80761			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"uroplakin IIIb"	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.867C>T	7.37:g.76144472C>T			A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	NULL	p.P261L	ENST00000257632.5	37	c.782	CCDS5588.1	7	.	.	.	.	.	.	.	.	.	.	.	14.63	2.592908	0.46214	.	.	ENSG00000243566	ENST00000334348;ENST00000443097	T;T	0.62364	0.03;0.03	4.08	4.08	0.47627	.	.	.	.	.	T	0.78329	0.4266	.	.	.	0.45791	D	0.998679	D	0.89917	1.0	D	0.87578	0.998	T	0.81640	-0.0841	8	0.87932	D	0	-12.6869	13.9332	0.64010	0.0:1.0:0.0:0.0	.	261	A6NHH5	.	L	261	ENSP00000334938:P261L;ENSP00000444585:P261L	ENSP00000334938:P261L	P	+	2	0	UPK3B	75982408	0.970000	0.33590	0.548000	0.28192	0.022000	0.10575	3.725000	0.54970	2.293000	0.77203	0.556000	0.70494	CCG	UPK3B	-	NULL		0.697	UPK3B-002	KNOWN	basic|CCDS	protein_coding	UPK3B	HGNC	protein_coding	OTTHUMT00000313978.2	C	NM_030570		76144472	1	no_errors	ENST00000334348	ensembl	human	known	70_37	missense	SNP	0.968	T	T	76144472	C	T	76144472	2	4	168	1	0	0	0	0	0	0	0	1	17042	652	23	2		2	UPK3B	7	76144472	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1933211	76144472	82994191	189	31906										
RSBN1L	222194	genome.wustl.edu	37	chr7	77325884	77325884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggcaagctgcaactctcctCccgggaccctccgggttctc	10	17	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:77325884C>T	ENST00000334955.8	+	1	125	c.98C>T	c.(97-99)tCc>tTc	p.S33F	RSBN1L_ENST00000445288.1_5'Flank|RSBN1L-AS1_ENST00000440088.1_lincRNA	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	33						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAACTCTCCTCCCGGGACCCT	0.662																																																	0													43	55	51					7																	77325884		1880	4110	5990	SO:0001583	missense	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.98C>T	7.37:g.77325884C>T	ENSP00000334040:p.Ser33Phe		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	NULL	p.S33F	ENST00000334955.8	37	c.98	CCDS43607.1	7	.	.	.	.	.	.	.	.	.	.	C	6.223	0.409205	0.11812	.	.	ENSG00000187257	ENST00000334955	.	.	.	4.16	2.3	0.28687	.	0.614122	0.14528	N	0.314024	T	0.27384	0.0672	L	0.27053	0.805	0.22666	N	0.998874	B	0.02656	0.0	B	0.04013	0.001	T	0.17806	-1.0357	9	0.46703	T	0.11	-0.1149	6.807	0.23782	0.0:0.7216:0.1786:0.0997	.	33	Q6PCB5	RSBNL_HUMAN	F	33	.	ENSP00000334040:S33F	S	+	2	0	RSBN1L	77163820	0.967000	0.33354	0.291000	0.24904	0.030000	0.12068	2.856000	0.48341	0.483000	0.27608	-0.499000	0.04595	TCC	RSBN1L	-	NULL		0.662	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1L	HGNC	protein_coding	OTTHUMT00000340455.3	C	NM_198467		77325884	1	no_errors	ENST00000334955	ensembl	human	known	70_37	missense	SNP	0.180	T	T	77325884	C	T	77325884	3	4	168	1	0	0	0	0	1	0	0	0	13727	855	30	1	100	1	RSBN1L	7	77325884	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1181412	77325884	81812779	190	31907										
ABCB1	5243	genome.wustl.edu	37	chr7	87150144	87150144	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atgttcaaacttctgctcctGagtcaaagaaacaacggttc	7	10	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:87150144G>C	ENST00000265724.3	-	23	3151	c.2734C>G	c.(2734-2736)Cag>Gag	p.Q912E	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q848E|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	912	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTCTGCTCCTGAGTCAAAGAA	0.423																																																	0													129	118	122					7																	87150144		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2734C>G	7.37:g.87150144G>C	ENSP00000265724:p.Gln912Glu		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.Q912E	ENST00000265724.3	37	c.2734	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738984	0.49045	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89270	-2.49;-2.49	5.28	4.4	0.53042	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.225178	0.45126	D	0.000386	D	0.85234	0.5650	L	0.42245	1.32	0.29960	N	0.81951	B;B	0.22211	0.022;0.066	B;B	0.32928	0.015;0.155	T	0.81278	-0.1005	10	0.56958	D	0.05	-5.5481	8.9395	0.35720	0.0747:0.0:0.7781:0.1471	.	848;912	B5AK60;P08183	.;MDR1_HUMAN	E	693;912;848	ENSP00000265724:Q912E;ENSP00000444095:Q848E	ENSP00000265724:Q912E	Q	-	1	0	ABCB1	86988080	0.039000	0.19947	1.000000	0.80357	0.978000	0.69477	2.276000	0.43408	1.228000	0.43614	0.655000	0.94253	CAG	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.423	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	G	NM_000927		87150144	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	missense	SNP	0.998	C	C	87150144	G	C	87150144	3	2	168	1	0	0	0	0	1	0	0	0	40	1299	45	1	1136	1	ABCB1	7	87150144	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	9824260	87150144	71988519	191	31908										
C7orf63	79846	genome.wustl.edu	37	chr7	89906410	89906410	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtggctttaccaaggatttGatactgtttgccacctttaa	8	8	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:89906410G>A	ENST00000389297.4	+	10	1259	c.1008G>A	c.(1006-1008)ttG>ttA	p.L336L	C7orf63_ENST00000497910.1_Silent_p.L318L|C7orf63_ENST00000316089.8_Silent_p.L336L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		336										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CCAAGGATTTGATACTGTTTG	0.269																																																	0													54	47	49					7																	89906410		1782	4044	5826	SO:0001819	synonymous_variant	79846																														ENST00000389297.4:c.1008G>A	7.37:g.89906410G>A			A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	superfamily_ARM-type_fold	p.L336	ENST00000389297.4	37	c.1008	CCDS43613.2	7																																																																																			C7orf63	-	NULL		0.269	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G			89906410	1	no_errors	ENST00000389297	ensembl	human	known	70_37	silent	SNP	1.000	A	A	89906410	G	A	89906410	2	1	168	1	0	0	0	0	0	0	0	1	2414	1281	45	1		1	C7orf63	7	89906410	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2756266	89906410	69232253	192	31909										
PPP1R9A	55607	genome.wustl.edu	37	chr7	94539853	94539853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttccaagttcactgagactcGaaagatgtttgagagaagtg	11	6	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:94539853G>A	ENST00000433881.1	+	2	960	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R143Q|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R143Q|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R143Q|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R143Q|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R143Q			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	143	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACTGAGACTCGAAAGATGTTT	0.438										HNSCC(28;0.073)																																							0													136	131	132					7																	94539853		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.428G>A	7.37:g.94539853G>A	ENSP00000398870:p.Arg143Gln		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.R143Q	ENST00000433881.1	37	c.428	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094233	0.36952	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	5.66	4.78	0.61160	.	0.066710	0.64402	D	0.000004	D	0.96626	0.8899	M	0.83953	2.67	0.45366	D	0.998351	D;D;D;P;P	0.89917	1.0;1.0;1.0;0.774;0.774	P;D;D;B;B	0.85130	0.846;0.997;0.997;0.128;0.074	D	0.96828	0.9609	9	.	.	.	.	14.9142	0.70781	0.0689:0.0:0.9311:0.0	.	143;143;143;143;143	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Q	143	ENSP00000405514:R143Q;ENSP00000344524:R143Q;ENSP00000411342:R143Q;ENSP00000398870:R143Q;ENSP00000289495:R143Q;ENSP00000402893:R143Q	.	R	+	2	0	PPP1R9A	94377789	1.000000	0.71417	0.998000	0.56505	0.055000	0.15305	9.476000	0.97823	1.546000	0.49388	-0.229000	0.12294	CGA	PPP1R9A	-	NULL		0.438	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	G	NM_001166160		94539853	1	no_errors	ENST00000289495	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94539853	G	A	94539853	3	1	168	1	0	0	0	0	1	0	0	0	12405	1058	37	1	430	1	PPP1R9A	7	94539853	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	4633443	94539853	64598810	193	31910										
AGFG2	3268	genome.wustl.edu	37	chr7	100151041	100151041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctccacccctgtgcagggctCcatcccagaagggaagcccc	10	18	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:100151041C>T	ENST00000300176.4	+	4	625	c.503C>T	c.(502-504)tCc>tTc	p.S168F	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	168					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGCAGGGCTCCATCCCAGAA	0.557																																																	0													93	92	92					7																	100151041		2203	4300	6503	SO:0001583	missense	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.503C>T	7.37:g.100151041C>T	ENSP00000300176:p.Ser168Phe		O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.S168F	ENST00000300176.4	37	c.503	CCDS5697.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384869	0.82792	.	.	ENSG00000106351	ENST00000300176	T	0.28454	1.61	5.0	5.0	0.66597	.	0.235831	0.44285	D	0.000466	T	0.54598	0.1868	M	0.72894	2.215	0.80722	D	1	D	0.67145	0.996	D	0.69824	0.966	T	0.56547	-0.7961	10	0.72032	D	0.01	-32.4968	16.2313	0.82344	0.0:1.0:0.0:0.0	.	168	O95081	AGFG2_HUMAN	F	168	ENSP00000300176:S168F	ENSP00000300176:S168F	S	+	2	0	AGFG2	99988977	0.952000	0.32445	0.993000	0.49108	0.826000	0.46750	1.915000	0.39976	2.783000	0.95769	0.644000	0.83932	TCC	AGFG2	-	NULL		0.557	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGFG2	HGNC	protein_coding	OTTHUMT00000342769.1	C	NM_006076		100151041	1	no_errors	ENST00000300176	ensembl	human	known	70_37	missense	SNP	0.998	T	T	100151041	C	T	100151041	3	4	168	1	0	0	0	0	1	0	0	0	381	855	30	1	517	1	AGFG2	7	100151041	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	5611188	100151041	58987622	194	31911										
LRCH4	4034	genome.wustl.edu	37	chr7	100172787	100172787	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agcagcatgaggaccacgtaGaagacgacgaagccgcccag	13	12	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:100172787G>A	ENST00000310300.6	-	18	2047	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	SAP25_ENST00000538735.1_5'Flank|LRCH4_ENST00000497245.1_Silent_p.F213F	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	665					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGACCACGTAGAAGACGACGA	0.672																																																	0													57	48	51					7																	100172787		2203	4299	6502	SO:0001819	synonymous_variant	4034			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1995C>T	7.37:g.100172787G>A			A4D2D5|Q8WV85|Q96ID0	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.F665	ENST00000310300.6	37	c.1995	CCDS34706.1	7																																																																																			LRCH4	-	NULL		0.672	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	HGNC	protein_coding	OTTHUMT00000356110.1	G	NM_002319		100172787	-1	no_errors	ENST00000310300	ensembl	human	known	70_37	silent	SNP	1.000	A	A	100172787	G	A	100172787	2	1	168	1	0	0	0	0	0	0	0	1	8958	933	33	1		1	LRCH4	7	100172787	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	21746	100172787	58965876	195	31912										
EPHB4	2050	genome.wustl.edu	37	chr7	100404047	100404047	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccacgggacacttacgtcctGattgctcatgtcccagtacg	9	14	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:100404047G>C	ENST00000358173.3	-	14	2947	c.2479C>G	c.(2479-2481)Cag>Gag	p.Q827E	EPHB4_ENST00000360620.3_Missense_Mutation_p.Q827E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTACGTCCTGATTGCTCATG	0.552																																					GBM(200;2113 3072 25865 52728)												0													180	137	151					7																	100404047		2203	4300	6503	SO:0001583	missense	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2479C>G	7.37:g.100404047G>C	ENSP00000350896:p.Gln827Glu		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q827E	ENST00000358173.3	37	c.2479	CCDS5706.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302531	0.81136	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.81579	-1.51;-1.51	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	D	0.000352	T	0.78214	0.4248	N	0.04063	-0.285	0.80722	D	1	D;D	0.65815	0.962;0.995	D;D	0.75484	0.953;0.986	D	0.84199	0.0449	10	0.87932	D	0	.	14.5501	0.68059	0.0:0.0:1.0:0.0	.	827;827	Q96L35;P54760	.;EPHB4_HUMAN	E	827	ENSP00000353833:Q827E;ENSP00000350896:Q827E	ENSP00000350896:Q827E	Q	-	1	0	EPHB4	100241983	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.876000	0.87215	2.021000	0.59480	0.455000	0.32223	CAG	EPHB4	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.552	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	G	NM_004444		100404047	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100404047	G	C	100404047	3	2	168	1	0	0	0	0	1	0	0	0	5189	1299	45	1	500	1	EPHB4	7	100404047	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	231260	100404047	58734616	196	31913										
SLC26A4	5172	genome.wustl.edu	37	chr7	107303837	107303837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaggaatggctgcttagtgaCgtcatttcgggagttagtac	13	6	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:107303837C>T	ENST00000265715.3	+	3	485	c.261C>T	c.(259-261)gaC>gaT	p.D87D	SLC26A4-AS1_ENST00000440512.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA|SLC26A4-AS1_ENST00000449741.1_RNA|SLC26A4-AS1_ENST00000591896.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	87					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGCTTAGTGACGTCATTTCGG	0.498									Pendred syndrome																																								0																																										SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.261C>T	7.37:g.107303837C>T			B7Z266|O43170	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.D87	ENST00000265715.3	37	c.261	CCDS5746.1	7																																																																																			SLC26A4	-	tigrfam_SulP_transpt		0.498	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	C	NM_000441		107303837	1	no_errors	ENST00000265715	ensembl	human	known	70_37	silent	SNP	0.668	T	T	107303837	C	T	107303837	2	4	168	1	0	0	0	0	0	0	0	1	14549	535	19	2		2	SLC26A4	7	107303837	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6899790	107303837	51834826	197	31914										
GCC1	79571	genome.wustl.edu	37	chr7	127223154	127223154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggctgtctaaaggggacctGctggaggctgctagagccag	16	9	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:127223154G>T	ENST00000321407.2	-	2	1666	c.1242C>A	c.(1240-1242)agC>agA	p.S414R	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	414					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AAGGGGACCTGCTGGAGGCTG	0.547																																																	0													77	77	77					7																	127223154		2203	4300	6503	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1242C>A	7.37:g.127223154G>T	ENSP00000318821:p.Ser414Arg		Q9H6N7	Missense_Mutation	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.S414R	ENST00000321407.2	37	c.1242	CCDS5796.1	7	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002480	0.35320	.	.	ENSG00000179562	ENST00000321407	T	0.13307	2.6	5.12	3.28	0.37604	.	0.123559	0.85682	D	0.000000	T	0.17365	0.0417	L	0.56769	1.78	0.50632	D	0.999882	D	0.56035	0.974	P	0.49140	0.601	T	0.07868	-1.0750	10	0.15499	T	0.54	-14.0154	10.1167	0.42596	0.1752:0.0:0.8248:0.0	.	414	Q96CN9	GCC1_HUMAN	R	414	ENSP00000318821:S414R	ENSP00000318821:S414R	S	-	3	2	GCC1	127010390	1.000000	0.71417	0.997000	0.53966	0.474000	0.32979	2.365000	0.44196	1.291000	0.44653	0.655000	0.94253	AGC	GCC1	-	NULL		0.547	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	G	NM_024523		127223154	-1	no_errors	ENST00000321407	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127223154	G	T	127223154	3	4	168	1	0	0	0	0	1	0	0	0	6304	1310	46	4	1089	4	GCC1	7	127223154	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	19919317	127223154	31915509	198	31915										
SND1	27044	genome.wustl.edu	37	chr7	127447549	127447549	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tacttttaggataagaacaaGaaactgcgtcccctgtatga	8	8	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:127447549G>C	ENST00000354725.3	+	11	1358	c.1164G>C	c.(1162-1164)aaG>aaC	p.K388N		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	388	TNase-like 3. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ATAAGAACAAGAAACTGCGTC	0.358																																																	0													159	157	158					7																	127447549		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1164G>C	7.37:g.127447549G>C	ENSP00000346762:p.Lys388Asn		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.K388N	ENST00000354725.3	37	c.1164	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976257	0.74360	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.32753	1.44	5.86	4.99	0.66335	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.044427	0.85682	D	0.000000	T	0.40546	0.1121	L	0.50333	1.59	0.80722	D	1	P	0.45531	0.86	P	0.52159	0.691	T	0.15549	-1.0433	10	0.41790	T	0.15	-30.3918	13.1424	0.59442	0.0773:0.0:0.9227:0.0	.	388	Q7KZF4	SND1_HUMAN	N	388;378	ENSP00000346762:K388N	ENSP00000346762:K388N	K	+	3	2	SND1	127234785	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.884000	0.56175	1.628000	0.50416	-0.145000	0.13849	AAG	SND1	-	pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.358	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	G	NM_014390		127447549	1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	C	C	127447549	G	C	127447549	3	2	168	1	0	0	0	0	1	0	0	0	14874	933	33	1	1206	1	SND1	7	127447549	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	224395	127447549	31691114	199	31916										
FLNC	2318	genome.wustl.edu	37	chr7	128498202	128498202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atgccagcaaggtggtgactCggggccctgggctgtcccag	16	12	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:128498202C>T	ENST00000325888.8	+	47	8182	c.7921C>T	c.(7921-7923)Cgg>Tgg	p.R2641W	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2608W	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2641	Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTGGTGACTCGGGGCCCTGG	0.652																																																	0													21	23	23					7																	128498202		2042	4146	6188	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7921C>T	7.37:g.128498202C>T	ENSP00000327145:p.Arg2641Trp		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2641W	ENST00000325888.8	37	c.7921	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236341	0.58886	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84873	-1.91;-1.91	5.07	2.79	0.32731	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.056530	0.64402	D	0.000010	D	0.90848	0.7125	M	0.76328	2.33	0.43088	D	0.994758	D;D	0.89917	0.999;1.0	D;D	0.67725	0.924;0.953	D	0.92003	0.5612	10	0.87932	D	0	.	14.4785	0.67564	0.3698:0.6302:0.0:0.0	.	2608;2641	Q14315-2;Q14315	.;FLNC_HUMAN	W	2641;2608	ENSP00000327145:R2641W;ENSP00000344002:R2608W	ENSP00000327145:R2641W	R	+	1	2	FLNC	128285438	0.004000	0.15560	0.946000	0.38457	0.970000	0.65996	0.084000	0.14891	0.896000	0.36366	0.557000	0.71058	CGG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128498202	1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	0.923	T	T	128498202	C	T	128498202	3	4	168	1	0	0	0	0	1	0	0	0	5953	875	31	1	8107	1	FLNC	7	128498202	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1050653	128498202	30640461	200	31917										
NUP205	23165	genome.wustl.edu	37	chr7	135262642	135262642	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaagaagacactctcctcctCattggacatttggaaagagt	8	9	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:135262642C>T	ENST00000285968.6	+	6	773	c.747C>T	c.(745-747)ctC>ctT	p.L249L	NUP205_ENST00000440390.2_Silent_p.L43L	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	249					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTCTCCTCCTCATTGGACATT	0.458																																																	0													118	105	110					7																	135262642		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.747C>T	7.37:g.135262642C>T			A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.L249	ENST00000285968.6	37	c.747	CCDS34759.1	7																																																																																			NUP205	-	pfam_DUF3414		0.458	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	C			135262642	1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	0.416	T	T	135262642	C	T	135262642	2	4	168	1	0	0	0	0	0	0	0	1	10783	813	29	1		1	NUP205	7	135262642	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6764440	135262642	23876021	201	31918										
NUP205	23165	genome.wustl.edu	37	chr7	135286123	135286123	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttatgttctatttaggagaaGaaatcatagcctataagcca	7	6	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:135286123G>A	ENST00000285968.6	+	17	2406	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	794					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTAGGAGAAGAAATCATAGC	0.363																																																	0													180	175	177					7																	135286123		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2380G>A	7.37:g.135286123G>A	ENSP00000285968:p.Glu794Lys		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_DUF3414	p.E794K	ENST00000285968.6	37	c.2380	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540920	0.45280	.	.	ENSG00000155561	ENST00000285968	T	0.30714	1.52	5.8	5.8	0.92144	.	0.046289	0.85682	D	0.000000	T	0.25827	0.0629	L	0.36672	1.1	0.80722	D	1	B	0.30146	0.27	B	0.28385	0.089	T	0.06698	-1.0812	10	0.07325	T	0.83	-21.5952	20.0544	0.97645	0.0:0.0:1.0:0.0	.	794	Q92621	NU205_HUMAN	K	794	ENSP00000285968:E794K	ENSP00000285968:E794K	E	+	1	0	NUP205	134936663	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.966000	0.76073	2.746000	0.94184	0.591000	0.81541	GAA	NUP205	-	pfam_DUF3414		0.363	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	G			135286123	1	no_errors	ENST00000285968	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135286123	G	A	135286123	3	1	168	1	0	0	0	0	1	0	0	0	10783	943	33	1	2446	1	NUP205	7	135286123	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	23481	135286123	23852540	202	31919										
EPHB6	2051	genome.wustl.edu	37	chr7	142563943	142563943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagaggcctgactgagagccGagtgttagtggggggactcc	18	8	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:142563943G>A	ENST00000392957.2	+	9	2118	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	EPHB6_ENST00000411471.2_Missense_Mutation_p.R167Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R444Q	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	444	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACTGAGAGCCGAGTGTTAGTG	0.632																																																	0													48	44	46					7																	142563943		2203	4300	6503	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1331G>A	7.37:g.142563943G>A	ENSP00000376684:p.Arg444Gln		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R444Q	ENST00000392957.2	37	c.1331	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726937	0.89390	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.57595	0.39;0.39;0.39	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39407	N	0.001371	T	0.73210	0.3558	M	0.76574	2.34	0.48762	D	0.999703	D	0.89917	1.0	D	0.76071	0.987	T	0.74156	-0.3756	10	0.51188	T	0.08	.	18.344	0.90315	0.0:0.0:1.0:0.0	.	444	O15197	EPHB6_HUMAN	Q	444;444;167	ENSP00000376684:R444Q;ENSP00000410789:R444Q;ENSP00000409061:R167Q	ENSP00000376684:R444Q	R	+	2	0	EPHB6	142274065	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	3.137000	0.50562	2.560000	0.86352	0.561000	0.74099	CGA	EPHB6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.632	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	G			142563943	1	no_errors	ENST00000392957	ensembl	human	known	70_37	missense	SNP	1.000	A	A	142563943	G	A	142563943	3	1	168	1	0	0	0	0	1	0	0	0	5190	1058	37	1	1349	1	EPHB6	7	142563943	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7277820	142563943	16574720	203	31920										
CNTNAP2	26047	genome.wustl.edu	37	chr7	146805344	146805344	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgccttgaactttaagacgtCtgaaagtgaaggagtaatcc	10	7	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:146805344C>T	ENST00000361727.3	+	5	1172	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	219	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTAAGACGTCTGAAAGTGAA	0.388										HNSCC(39;0.1)																																							0													132	121	125					7																	146805344		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.656C>T	7.37:g.146805344C>T	ENSP00000354778:p.Ser219Phe		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S219F	ENST00000361727.3	37	c.656	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698886	0.30142	.	.	ENSG00000174469	ENST00000361727	T	0.78481	-1.18	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.095948	0.42682	D	0.000667	T	0.71451	0.3341	L	0.41710	1.295	0.80722	D	1	B	0.18863	0.031	B	0.24848	0.056	T	0.65125	-0.6244	10	0.09590	T	0.72	.	19.1533	0.93499	0.0:1.0:0.0:0.0	.	219	Q9UHC6	CNTP2_HUMAN	F	219	ENSP00000354778:S219F	ENSP00000354778:S219F	S	+	2	0	CNTNAP2	146436277	0.985000	0.35326	0.192000	0.23308	0.403000	0.30841	5.635000	0.67841	2.868000	0.98415	0.557000	0.71058	TCT	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.388	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	C			146805344	1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	0.991	T	T	146805344	C	T	146805344	3	4	168	1	0	0	0	0	1	0	0	0	3652	913	32	1	674	1	CNTNAP2	7	146805344	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	4241401	146805344	12333319	204	31921										
ACCN3	9311	genome.wustl.edu	37	chr7	150746280	150746280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actgcgccgctcgcgcctaaCgcccaacgacctgcactggg	11	18	0	0	rs200735941		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr7:150746280C>T	ENST00000349064.5	+	1	506	c.308C>T	c.(307-309)aCg>aTg	p.T103M	ASIC3_ENST00000297512.8_Missense_Mutation_p.T103M|ASIC3_ENST00000357922.4_Missense_Mutation_p.T103M	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	103					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TCGCGCCTAACGCCCAACGAC	0.697													C|||	1	0.000199681	8e-04	0	5008	,	,		16072	0		0	False		,,,				2504	0																0													75	65	69					7																	150746280		2203	4300	6503	SO:0001583	missense	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.308C>T	7.37:g.150746280C>T	ENSP00000344838:p.Thr103Met		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.T103M	ENST00000349064.5	37	c.308	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547039	0.45383	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.65364	-0.15;-0.15;-0.15	5.11	5.11	0.69529	.	0.000000	0.33591	U	0.004747	T	0.81273	0.4788	M	0.84683	2.71	0.33409	D	0.578355	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.988;0.949;0.999	D	0.87491	0.2427	10	0.66056	D	0.02	-10.2737	16.3968	0.83610	0.0:1.0:0.0:0.0	.	103;103;103	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	M	103	ENSP00000350600:T103M;ENSP00000344838:T103M;ENSP00000297512:T103M	ENSP00000297512:T103M	T	+	2	0	ACCN3	150377213	0.140000	0.22579	0.926000	0.36857	0.059000	0.15707	1.234000	0.32660	2.549000	0.85964	0.561000	0.74099	ACG	ASIC3	-	pfam_Na+channel_ASC		0.697	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	C	NM_004769		150746280	1	no_errors	ENST00000297512	ensembl	human	known	70_37	missense	SNP	0.849	T	T	150746280	C	T	150746280	3	4	168	1	0	0	0	0	1	0	0	0	130	536	19	2	310	2	ACCN3	7	150746280	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3940936	150746280	8392383	205	31922										
PINX1	54984	genome.wustl.edu	37	chr8	10689235	10689235	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aagctggttaaaatcatcctGatgggcaatccagttgtcct	9	9	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:10689235G>A	ENST00000314787.3	-	4	360	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	PINX1_ENST00000520018.2_5'Flank|PINX1_ENST00000426190.2_Nonsense_Mutation_p.Q79*|SOX7_ENST00000553390.1_Nonsense_Mutation_p.Q81*|PINX1_ENST00000519088.1_Nonsense_Mutation_p.Q81*|SOX7_ENST00000554914.1_Nonsense_Mutation_p.Q81*	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	81					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		AAATCATCCTGATGGGCAATC	0.413																																																	0													75	76	76					8																	10689235		1868	4101	5969	SO:0001587	stop_gained	83595			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"G patch domain containing"	30046	protein-coding gene	gene with protein product	"PIN2 interacting protein 1", "liver-related putative tumor suppressor"	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.241C>T	8.37:g.10689235G>A	ENSP00000318966:p.Gln81*		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Nonsense_Mutation	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily	p.Q81*	ENST00000314787.3	37	c.241	CCDS47801.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.121478	0.97300	.	.	ENSG00000171056;ENSG00000258724;ENSG00000254093;ENSG00000254093;ENSG00000254093;ENSG00000254093	ENST00000553390;ENST00000554914;ENST00000314787;ENST00000426190;ENST00000519088;ENST00000524114	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.8865	0.70572	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;79;81;91	.	ENSP00000318966:Q81X	Q	-	1	0	SOX7;CTD-2135J3.4;PINX1	10726645	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.132000	0.94455	2.380000	0.81148	0.591000	0.81541	CAG	SOX7	-	NULL		0.413	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000375683.1	G	NM_017884		10689235	-1	no_errors	ENST00000553390	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	10689235	G	A	10689235	4	1	168	1	0	0	0	0	0	1	0	0	11957	1299	45	1	761	1	PINX1	8	10689235	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		10689235	135674787	206	31923										
PTK2B	2185	genome.wustl.edu	37	chr8	27279825	27279825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cctttctccccaccagctccGgaacgactacatgcagcgct	7	18	1	0	rs373105458		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:27279825G>A	ENST00000397501.1	+	10	1284	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	PTK2B_ENST00000517339.1_Missense_Mutation_p.R159Q|PTK2B_ENST00000420218.2_Missense_Mutation_p.R159Q|PTK2B_ENST00000338238.4_Missense_Mutation_p.R159Q|PTK2B_ENST00000544172.1_Missense_Mutation_p.R159Q|PTK2B_ENST00000346049.5_Missense_Mutation_p.R159Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	159	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CACCAGCTCCGGAACGACTAC	0.622																																																	0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	77	63	68		476,476,476,476	4.7	1	8		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTK2B	NM_004103.4,NM_173174.2,NM_173175.2,NM_173176.2	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	159/1010,159/1010,159/968,159/1010	27279825	1,13005	2203	4300	6503	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.476G>A	8.37:g.27279825G>A	ENSP00000380638:p.Arg159Gln		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R159Q	ENST00000397501.1	37	c.476	CCDS6057.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.397870	0.96030	0.0	1.16E-4	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000522517;ENST00000412793;ENST00000517339	T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;0.79;-1.38;-1.38	4.71	4.71	0.59529	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.64567	1.98	0.80722	D	1	P;P	0.39094	0.633;0.659	B;B	0.40375	0.3;0.327	T	0.81411	-0.0945	10	0.48119	T	0.1	.	15.2139	0.73247	0.0:0.0:1.0:0.0	.	159;159	Q14289-2;Q14289	.;FAK2_HUMAN	Q	159;164;159;159;159;159;159;159;159	ENSP00000380638:R159Q;ENSP00000342242:R159Q;ENSP00000440926:R159Q;ENSP00000332816:R159Q;ENSP00000391995:R159Q;ENSP00000428271:R159Q;ENSP00000416174:R159Q;ENSP00000427931:R159Q	ENSP00000342242:R159Q	R	+	2	0	PTK2B	27335742	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.095000	0.94175	2.455000	0.83008	0.650000	0.86243	CGG	PTK2B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.622	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	G	NM_004103		27279825	1	no_errors	ENST00000346049	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27279825	G	A	27279825	3	1	168	1	0	0	0	0	1	0	0	0	12791	1116	39	2	490	2	PTK2B	8	27279825	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	16590590	27279825	119084197	207	31924										
C8orf80	389643	genome.wustl.edu	37	chr8	27886806	27886806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagctgctgaaactggtgctGcatcctttcctgggcccttt	10	13	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:27886806G>T	ENST00000413272.2	-	17	2273	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K	NUGGC_ENST00000341513.6_Missense_Mutation_p.Q711K	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	711					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AACTGGTGCTGCATCCTTTCC	0.577																																																	0													76	83	81					8																	27886806		2027	4192	6219	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2131C>A	8.37:g.27886806G>T	ENSP00000408697:p.Gln711Lys		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.Q711K	ENST00000413272.2	37	c.2131	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	G	3.119	-0.180945	0.06380	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.13089	2.62;2.62	5.56	3.54	0.40534	.	0.530450	0.19061	N	0.123762	T	0.05960	0.0155	N	0.14661	0.345	0.25844	N	0.984021	B	0.06786	0.001	B	0.04013	0.001	T	0.40627	-0.9553	10	0.02654	T	1	-4.7943	7.1422	0.25562	0.0992:0.0:0.7191:0.1817	.	711	Q68CJ6	SLIP_HUMAN	K	711	ENSP00000408697:Q711K;ENSP00000345031:Q711K	ENSP00000345031:Q711K	Q	-	1	0	C8orf80	27942725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.087000	0.30865	1.313000	0.45069	0.655000	0.94253	CAG	NUGGC	-	NULL		0.577	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	G	NM_001010906		27886806	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27886806	G	T	27886806	3	4	168	1	0	0	0	0	1	0	0	0	2444	1328	46	4	271	4	C8orf80	8	27886806	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	606981	27886806	118477216	208	31925										
GTF2E2	2961	genome.wustl.edu	37	chr8	30437888	30437888	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcgtccatggaatctacagtGacactcctccacagtttctg	7	13	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:30437888G>A	ENST00000355904.4	-	7	951	c.669C>T	c.(667-669)gtC>gtT	p.V223V		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	223					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AATCTACAGTGACACTCCTCC	0.383																																																	0													131	120	124					8																	30437888		2203	4300	6503	SO:0001819	synonymous_variant	2961			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.669C>T	8.37:g.30437888G>A			D3DSV2|Q9H2B9	Silent	SNP	pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu	p.V223	ENST00000355904.4	37	c.669	CCDS6078.1	8																																																																																			GTF2E2	-	pirsf_TFIIE-bsu		0.383	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2E2	HGNC	protein_coding	OTTHUMT00000376459.2	G	NM_002095		30437888	-1	no_errors	ENST00000355904	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30437888	G	A	30437888	2	1	168	1	0	0	0	0	0	0	0	1	6877	1277	45	1		1	GTF2E2	8	30437888	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2551082	30437888	115926134	209	31926										
UNC5D	137970	genome.wustl.edu	37	chr8	35542222	35542222	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcaatggtggggccttttgtGagggaatgtcagtgcagaaa	15	5	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:35542222G>A	ENST00000404895.2	+	6	1202	c.874G>A	c.(874-876)Gag>Aag	p.E292K	UNC5D_ENST00000416672.1_Missense_Mutation_p.E292K|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000453357.2_Missense_Mutation_p.E287K|UNC5D_ENST00000287272.2_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	292	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGCCTTTTGTGAGGGAATGTC	0.502																																																	0													170	152	158					8																	35542222		2203	4300	6503	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.874G>A	8.37:g.35542222G>A	ENSP00000385143:p.Glu292Lys		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.E292K	ENST00000404895.2	37	c.874	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461042	0.84317	.	.	ENSG00000156687	ENST00000404895;ENST00000416672;ENST00000453357	T;T;T	0.52983	0.64;0.64;0.64	5.39	5.39	0.77823	.	0.153716	0.64402	D	0.000015	T	0.50769	0.1635	L	0.56769	1.78	0.80722	D	1	B;P;P	0.39480	0.051;0.675;0.549	B;B;B	0.41088	0.115;0.347;0.258	T	0.45323	-0.9269	10	0.31617	T	0.26	-21.8687	19.5354	0.95251	0.0:0.0:1.0:0.0	.	292;287;292	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	K	292;292;287	ENSP00000385143:E292K;ENSP00000412652:E292K;ENSP00000394303:E287K	ENSP00000385143:E292K	E	+	1	0	UNC5D	35661764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	GAG	UNC5D	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	G			35542222	1	no_errors	ENST00000404895	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35542222	G	A	35542222	3	1	168	1	0	0	0	0	1	0	0	0	17026	1291	45	1	896	1	UNC5D	8	35542222	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	5104334	35542222	110821800	210	31927										
CHD7	55636	genome.wustl.edu	37	chr8	61736429	61736429	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	taaaggggtcctataagtttCatgccatcatcactacattt	6	9	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:61736429C>T	ENST00000423902.2	+	13	3711	c.3232C>T	c.(3232-3234)Cat>Tat	p.H1078Y	CHD7_ENST00000525508.1_Missense_Mutation_p.H1078Y|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1078	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTATAAGTTTCATGCCATCAT	0.368																																																	0													112	103	106					8																	61736429		1919	4158	6077	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3232C>T	8.37:g.61736429C>T	ENSP00000392028:p.His1078Tyr		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1078Y	ENST00000423902.2	37	c.3232	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925070	0.92319	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93712	-3.27;-3.27	5.73	5.73	0.89815	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	M	0.80982	2.52	0.80722	D	1	P;D	0.61697	0.886;0.99	B;P	0.61132	0.271;0.884	D	0.96288	0.9211	10	0.66056	D	0.02	-20.2901	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1078;1078	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	Y	1078	ENSP00000392028:H1078Y;ENSP00000436027:H1078Y	ENSP00000307304:H1078Y	H	+	1	0	CHD7	61898983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	CAT	CHD7	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.368	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	C	XM_098762		61736429	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61736429	C	T	61736429	3	4	168	1	0	0	0	0	1	0	0	0	3335	826	29	1	3278	1	CHD7	8	61736429	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	26194207	61736429	84627593	211	31928										
STAU2	27067	genome.wustl.edu	37	chr8	74333628	74333628	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tagacggccgagtttgatttCttgcagtcctgagcgatgga	13	8	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:74333628C>A	ENST00000524300.1	-	15	2042	c.1692G>T	c.(1690-1692)aaG>aaT	p.K564N	STAU2_ENST00000522695.1_Missense_Mutation_p.K532N|STAU2_ENST00000523558.1_Missense_Mutation_p.K392N|STAU2_ENST00000521210.1_Missense_Mutation_p.K498N|STAU2-AS1_ENST00000517604.1_lincRNA	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	564	Required for dendritic transport. {ECO:0000250}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AGTTTGATTTCTTGCAGTCCT	0.522																																																	0													113	101	105					8																	74333628		692	1591	2283	SO:0001583	missense	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.1692G>T	8.37:g.74333628C>A	ENSP00000428756:p.Lys564Asn		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.K564N	ENST00000524300.1	37	c.1692	CCDS55247.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138228	0.77775	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.37	5.37	0.77165	.	0.314062	0.34245	N	0.004132	T	0.69984	0.3172	L	0.54323	1.7	0.80722	D	1	D;P;P;P	0.76494	0.999;0.816;0.816;0.608	D;B;B;B	0.80764	0.994;0.382;0.261;0.261	T	0.72391	-0.4308	10	0.87932	D	0	-13.1643	19.1044	0.93287	0.0:1.0:0.0:0.0	.	498;392;532;564	E9PEI3;E7ER74;E9PH62;E9PF26	.;.;.;.	N	532;564;392;498	ENSP00000428456:K532N;ENSP00000428756:K564N;ENSP00000428741:K392N;ENSP00000429173:K498N	ENSP00000344030:K392N	K	-	3	2	STAU2	74496182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.062000	0.76706	2.492000	0.84095	0.655000	0.94253	AAG	STAU2	-	NULL		0.522	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379000.2	C	NM_001164380		74333628	-1	no_errors	ENST00000524300	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74333628	C	A	74333628	3	1	168	1	0	0	0	0	1	0	0	0	15303	912	32	3	24	3	STAU2	8	74333628	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	12597199	74333628	72030394	212	31929										
CRISPLD1	83690	genome.wustl.edu	37	chr8	75898286	75898286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgttcatggctagagcaattCcagccatggtggttcccaat	10	10	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:75898286C>T	ENST00000262207.4	+	2	532	c.64C>T	c.(64-66)Cca>Tca	p.P22S	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	22					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAGAGCAATTCCAGCCATGGT	0.473																																																	0													113	118	116					8																	75898286		2203	4300	6503	SO:0001583	missense	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.64C>T	8.37:g.75898286C>T	ENSP00000262207:p.Pro22Ser		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.P22S	ENST00000262207.4	37	c.64	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	5.640	0.302781	0.10678	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	T;T	0.56776	0.44;2.09	5.37	4.49	0.54785	CAP domain (1);	0.320136	0.35677	N	0.003041	T	0.26231	0.0640	N	0.10874	0.06	0.43814	D	0.996376	B	0.02656	0.0	B	0.01281	0.0	T	0.09357	-1.0678	10	0.13853	T	0.58	.	4.3771	0.11275	0.0:0.5965:0.1854:0.218	.	22	Q9H336	CRLD1_HUMAN	S	22	ENSP00000262207:P22S;ENSP00000430504:P22S	ENSP00000262207:P22S	P	+	1	0	CRISPLD1	76060841	0.790000	0.28787	0.991000	0.47740	0.991000	0.79684	0.720000	0.25896	1.492000	0.48499	0.563000	0.77884	CCA	CRISPLD1	-	superfamily_CAP_domain		0.473	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	C	NM_031461		75898286	1	no_errors	ENST00000262207	ensembl	human	known	70_37	missense	SNP	0.504	T	T	75898286	C	T	75898286	3	4	168	1	0	0	0	0	1	0	0	0	3887	855	30	1	66	1	CRISPLD1	8	75898286	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1564658	75898286	70465736	213	31930										
STK3	6788	genome.wustl.edu	37	chr8	99718742	99718742	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggttttccttcagccatttCtatagaagtaatgccaaggg	9	8	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:99718742C>G	ENST00000419617.2	-	6	777	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	STK3_ENST00000523601.1_Missense_Mutation_p.E241Q	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCAGCCATTTCTATAGAAGTA	0.398																																																	0													98	99	98					8																	99718742		2082	4249	6331	SO:0001583	missense	6788			BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.637G>C	8.37:g.99718742C>G	ENSP00000390500:p.Glu213Gln		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom	p.E213Q	ENST00000419617.2	37	c.637	CCDS47900.1	8	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230171	0.58777	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.70045	-0.45;-0.45	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.82222	-0.0564	10	0.87932	D	0	.	17.8821	0.88843	0.0:1.0:0.0:0.0	.	213;241	Q13188;B3KYA7	STK3_HUMAN;.	Q	213;241	ENSP00000390500:E213Q;ENSP00000429744:E241Q	ENSP00000390500:E213Q	E	-	1	0	STK3	99787918	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	7.794000	0.85869	2.308000	0.77769	0.563000	0.77884	GAA	STK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.398	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK3	HGNC	protein_coding	OTTHUMT00000379635.1	C	NM_006281		99718742	-1	no_errors	ENST00000419617	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99718742	C	G	99718742	3	3	168	1	0	0	0	0	1	0	0	0	15325	922	32	1	862	1	STK3	8	99718742	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	23820456	99718742	46645280	214	31931										
ZFAT	57623	genome.wustl.edu	37	chr8	135669870	135669870	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cctaaggggaataataatctCatcaacattaaccccttctt	4	11	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:135669870C>T	ENST00000377838.3	-	2	304	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ZFAT_ENST00000520356.1_Missense_Mutation_p.E32K|ZFAT_ENST00000523399.1_Missense_Mutation_p.E44K|ZFAT_ENST00000520727.1_Missense_Mutation_p.E32K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E32K|ZFAT_ENST00000520214.1_Missense_Mutation_p.E32K	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	44					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATAATAATCTCATCAACATTA	0.488																																																	0													109	103	105					8																	135669870		1871	4109	5980	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.130G>A	8.37:g.135669870C>T	ENSP00000367069:p.Glu44Lys		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E44K	ENST00000377838.3	37	c.130	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909315	0.72868	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000518191	T;T;T;T;T;T;T	0.33216	2.96;2.9;2.9;2.89;2.9;2.9;1.42	5.72	5.72	0.89469	.	0.184066	0.44688	D	0.000426	T	0.21881	0.0527	N	0.19112	0.55	0.32203	N	0.577608	B;B;B;B	0.34290	0.321;0.361;0.447;0.321	B;B;B;B	0.29942	0.073;0.039;0.109;0.073	T	0.15065	-1.0450	10	0.36615	T	0.2	-21.1298	17.3907	0.87430	0.0:1.0:0.0:0.0	.	44;32;32;44	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	K	32;32;32;44;32;32;44;32;32	ENSP00000427879:E32K;ENSP00000427831:E32K;ENSP00000394501:E32K;ENSP00000367069:E44K;ENSP00000428483:E32K;ENSP00000429091:E44K;ENSP00000428192:E32K	ENSP00000326997:E32K	E	-	1	0	ZFAT	135739052	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	5.705000	0.68355	2.691000	0.91804	0.655000	0.94253	GAG	ZFAT	-	NULL		0.488	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	C	NM_001029939		135669870	-1	no_errors	ENST00000377838	ensembl	human	known	70_37	missense	SNP	0.991	T	T	135669870	C	T	135669870	3	4	168	1	0	0	0	0	1	0	0	0	17662	835	29	1	3661	1	ZFAT	8	135669870	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	35951128	135669870	10694152	215	31932										
EPPK1	83481	genome.wustl.edu	37	chr8	144943362	144943362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagctgcacctgcaggagggGcaagccctcgttctgtggca	14	13	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:144943362G>A	ENST00000525985.1	-	2	4131	c.4060C>T	c.(4060-4062)Ccc>Tcc	p.P1354S				P58107	EPIPL_HUMAN	epiplakin 1	1354						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCAGGAGGGGCAAGCCCTCG	0.692																																																	0													14	18	17					8																	144943362		1979	4142	6121	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4060C>T	8.37:g.144943362G>A	ENSP00000436337:p.Pro1354Ser		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.P1354S	ENST00000525985.1	37	c.4060		8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030284	0.75504	.	.	ENSG00000227184	ENST00000525985	T	0.73047	-0.71	4.34	3.46	0.39613	.	.	.	.	.	T	0.60222	0.2252	L	0.27053	0.805	0.26157	N	0.98006	P	0.47484	0.896	P	0.46510	0.519	T	0.46748	-0.9169	9	0.20519	T	0.43	.	9.9716	0.41757	0.101:0.0:0.899:0.0	.	1354	E9PPU0	.	S	1354	ENSP00000436337:P1354S	ENSP00000436337:P1354S	P	-	1	0	EPPK1	145015350	0.997000	0.39634	0.850000	0.33497	0.885000	0.51271	3.190000	0.50973	1.030000	0.39839	0.563000	0.77884	CCC	EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144943362	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	1.000	A	A	144943362	G	A	144943362	3	1	168	1	0	0	0	0	1	0	0	0	5202	1203	42	4	3206	4	EPPK1	8	144943362	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	9273492	144943362	1420660	216	31933										
CYHR1	50626	genome.wustl.edu	37	chr8	145689761	145689761	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	accagccacagagcggccctCagggccgaggtggccgccag	15	16	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr8:145689761C>T	ENST00000438911.2	-	2	380				CYHR1_ENST00000530374.1_5'Flank|CYHR1_ENST00000424149.2_Missense_Mutation_p.E110K|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000403000.2_Missense_Mutation_p.E110K|KIFC2_ENST00000301332.2_5'Flank|CYHR1_ENST00000306145.5_Missense_Mutation_p.E110K	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1							cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GAGCGGCCCTCAGGGCCGAGG	0.632																																																	0													40	48	45					8																	145689761		2201	4292	6493	SO:0001627	intron_variant	50626			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"cysteine and histidine rich 1"			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.246+81G>A	8.37:g.145689761C>T			B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	NULL	p.E110K	ENST00000438911.2	37	c.328	CCDS47943.1	8	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971775	0.92919	.	.	ENSG00000187954	ENST00000403000;ENST00000424149;ENST00000306145;ENST00000533764	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000014	T	0.51346	0.1669	L	0.27053	0.805	0.31265	N	0.692459	D	0.67145	0.996	D	0.75484	0.986	T	0.58945	-0.7546	10	0.87932	D	0	.	15.0345	0.71734	0.0:1.0:0.0:0.0	.	110	Q6ZMK1-3	.	K	110	ENSP00000385962:E110K;ENSP00000414647:E110K;ENSP00000304826:E110K;ENSP00000432902:E110K	ENSP00000304826:E110K	E	-	1	0	CYHR1	145660569	0.988000	0.35896	0.946000	0.38457	0.803000	0.45373	3.178000	0.50879	2.145000	0.66743	0.491000	0.48974	GAG	CYHR1	-	NULL		0.632	CYHR1-001	KNOWN	basic|CCDS	protein_coding	CYHR1	HGNC	protein_coding	OTTHUMT00000382438.1	C	NM_032687		145689761	-1	no_errors	ENST00000306145	ensembl	human	known	70_37	missense	SNP	0.981	T	T	145689761	C	T	145689761	1	4	168	0	1	0	0	0	0	0	0	0	4145	835	29	1		1	CYHR1	8	145689761	Intron	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	746399	145689761	674261	217	31934										
FOXD4	2298	genome.wustl.edu	37	chr9	117186	117186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgcatccgcctcccggtggcGacgccagacccttgccctcc	10	20	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:117186G>A	ENST00000382500.2	-	1	1231	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	312					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCCGGTGGCGACGCCAGACC	0.652																																																	0													9	12	11					9																	117186		1899	3930	5829	SO:0001583	missense	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.934C>T	9.37:g.117186G>A	ENSP00000371940:p.Arg312Cys		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R312C	ENST00000382500.2	37	c.934	CCDS34975.1	9	.	.	.	.	.	.	.	.	.	.	.	11.73	1.724625	0.30593	.	.	ENSG00000170122	ENST00000382500	D	0.95171	-3.63	2.41	2.41	0.29592	.	4.590720	0.01135	U	0.006075	D	0.89663	0.6780	N	0.19112	0.55	0.09310	N	1	B	0.30033	0.266	B	0.17433	0.018	T	0.80979	-0.1140	10	0.48119	T	0.1	.	10.568	0.45184	0.0:0.0:1.0:0.0	.	312	Q12950	FOXD4_HUMAN	C	312	ENSP00000371940:R312C	ENSP00000371940:R312C	R	-	1	0	FOXD4	107186	0.387000	0.25188	0.017000	0.16124	0.014000	0.08584	1.526000	0.35964	1.347000	0.45714	0.473000	0.43528	CGC	FOXD4	-	NULL		0.652	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	G	NM_207305		117186	-1	no_errors	ENST00000382500	ensembl	human	known	70_37	missense	SNP	0.028	A	A	117186	G	A	117186	3	1	168	1	0	0	0	0	1	0	0	0	6017	1058	37	1	389	1	FOXD4	9	117186	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		117186	141096245	218	31935										
TJP2	9414	genome.wustl.edu	37	chr9	71861671	71861671	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	taaaggacactattcagcatCagcaaggagaagcggtttgg	12	7	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:71861671C>T	ENST00000377245.4	+	18	2840	c.2632C>T	c.(2632-2634)Cag>Tag	p.Q878*	TJP2_ENST00000539225.1_Nonsense_Mutation_p.Q909*|TJP2_ENST00000265384.7_Nonsense_Mutation_p.Q878*|TJP2_ENST00000535702.1_Nonsense_Mutation_p.Q882*|TJP2_ENST00000348208.4_Nonsense_Mutation_p.Q878*|TJP2_ENST00000453658.2_Nonsense_Mutation_p.Q855*|TJP2_ENST00000498204.1_3'UTR	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	878					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TATTCAGCATCAGCAAGGAGA	0.413																																																	0													115	111	113					9																	71861671		2203	4300	6503	SO:0001587	stop_gained	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2632C>T	9.37:g.71861671C>T	ENSP00000366453:p.Gln878*		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.Q909*	ENST00000377245.4	37	c.2725	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.770635	0.99260	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	.	.	.	X	855;878;878;878;882;909	.	ENSP00000265384:Q878X	Q	+	1	0	TJP2	71051491	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.416000	0.80143	2.838000	0.97847	0.655000	0.94253	CAG	TJP2	-	smart_Guanylate_kin/L-typ_Ca_channel		0.413	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	C	NM_201629		71861671	1	no_errors	ENST00000539225	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	71861671	C	T	71861671	4	4	168	1	0	0	0	0	0	1	0	0	15960	827	29	1	2859	1	TJP2	9	71861671	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	71744485	71861671	69351760	219	31936										
TRPM6	140803	genome.wustl.edu	37	chr9	77435249	77435249	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtgaaccatacactccattaGaatttggaaaaggtgcttgg	10	7	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:77435249G>A	ENST00000360774.1	-	9	1342	c.1105C>T	c.(1105-1107)Cta>Tta	p.L369L	TRPM6_ENST00000376872.3_Silent_p.L369L|TRPM6_ENST00000449912.2_Silent_p.L364L|TRPM6_ENST00000451710.3_Silent_p.L369L|TRPM6_ENST00000361255.3_Silent_p.L364L|TRPM6_ENST00000376871.3_Silent_p.L369L|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Silent_p.L369L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	369					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACTCCATTAGAATTTGGAAA	0.373																																																	0													134	123	127					9																	77435249		2203	4300	6503	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1105C>T	9.37:g.77435249G>A			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.L369	ENST00000360774.1	37	c.1105	CCDS6647.1	9																																																																																			TRPM6	-	NULL		0.373	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	G	NM_017662		77435249	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77435249	G	A	77435249	2	1	168	1	0	0	0	0	0	0	0	1	16621	933	33	1		1	TRPM6	9	77435249	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	5573578	77435249	63778182	220	31937										
VPS13A	23230	genome.wustl.edu	37	chr9	79933357	79933357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttggtacccaaaggcgagatGataaaaatgaacattgattc	9	6	0	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:79933357G>A	ENST00000360280.3	+	41	5423	c.5163G>A	c.(5161-5163)atG>atA	p.M1721I	VPS13A_ENST00000376634.4_Missense_Mutation_p.M1721I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M1682I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M1721I|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1721					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCGAGATGATAAAAATGA	0.353																																																	0													79	83	82					9																	79933357		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5163G>A	9.37:g.79933357G>A	ENSP00000353422:p.Met1721Ile		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.M1721I	ENST00000360280.3	37	c.5163	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234468	0.22626	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.4	-7.84	0.01196	.	0.564372	0.18942	N	0.126908	T	0.18002	0.0432	N	0.19112	0.55	0.19575	N	0.999969	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.001;0.002;0.002	T	0.02661	-1.1127	10	0.42905	T	0.14	.	4.8022	0.13303	0.5241:0.2654:0.126:0.0844	.	1682;1721;1721;1721	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	1721;1682;1721;1721	ENSP00000365821:M1721I;ENSP00000365823:M1682I;ENSP00000353422:M1721I;ENSP00000349985:M1721I	ENSP00000349985:M1721I	M	+	3	0	VPS13A	79123177	0.000000	0.05858	0.004000	0.12327	0.769000	0.43574	-1.394000	0.02518	-1.961000	0.01016	0.460000	0.39030	ATG	VPS13A	-	NULL		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79933357	1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	0.001	A	A	79933357	G	A	79933357	3	1	168	1	0	0	0	0	1	0	0	0	17220	1290	45	1	5325	1	VPS13A	9	79933357	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2498108	79933357	61280074	221	31938										
FGD3	89846	genome.wustl.edu	37	chr9	95795112	95795112	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccggcagagccgtgtctgcaGagattgtttcctgacacagc	12	12	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:95795112G>A	ENST00000375482.3	+	16	2238	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	FGD3_ENST00000538555.1_Missense_Mutation_p.R184K|FGD3_ENST00000416701.2_Missense_Mutation_p.R581K|FGD3_ENST00000337352.6_Missense_Mutation_p.R581K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	581					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGTGTCTGCAGAGATTGTTTC	0.642																																																	0													99	111	107					9																	95795112		2069	4198	6267	SO:0001583	missense	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1742G>A	9.37:g.95795112G>A	ENSP00000364631:p.Arg581Lys		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R581K	ENST00000375482.3	37	c.1742	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.141514	0.01728	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.54	1.05	0.20165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.211461	0.23744	N	0.044995	T	0.40119	0.1104	N	0.11560	0.145	0.23496	N	0.997553	B;B	0.15141	0.012;0.0	B;B	0.14023	0.006;0.01	T	0.30001	-0.9993	10	0.02654	T	1	.	5.6924	0.17837	0.5366:0.0:0.4634:0.0	.	581;581	F8W7P2;Q5JSP0	.;FGD3_HUMAN	K	581;581;581;184	ENSP00000364631:R581K;ENSP00000413833:R581K;ENSP00000336914:R581K;ENSP00000442560:R184K	ENSP00000336914:R581K	R	+	2	0	FGD3	94834933	1.000000	0.71417	0.212000	0.23672	0.289000	0.27227	1.707000	0.37888	0.436000	0.26393	0.561000	0.74099	AGA	FGD3	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.642	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	G	NM_033086		95795112	1	no_errors	ENST00000337352	ensembl	human	known	70_37	missense	SNP	0.738	A	A	95795112	G	A	95795112	3	1	168	1	0	0	0	0	1	0	0	0	5852	942	33	1	1796	1	FGD3	9	95795112	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	15861755	95795112	45418319	222	31939										
FAM120A	23196	genome.wustl.edu	37	chr9	96289484	96289484	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggagaagacgggaagccactCagagcctcaggcacgaggag	16	10	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:96289484C>G	ENST00000277165.6	+	8	1660	c.1466C>G	c.(1465-1467)tCa>tGa	p.S489*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.S517*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.S489*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.S489*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	489						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAAGCCACTCAGAGCCTCAG	0.438																																																	0													83	81	82					9																	96289484		2203	4300	6503	SO:0001587	stop_gained	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1466C>G	9.37:g.96289484C>G	ENSP00000277165:p.Ser489*		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Nonsense_Mutation	SNP	NULL	p.S517*	ENST00000277165.6	37	c.1550	CCDS6706.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.757237|5.757237	0.96898|0.96898	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.|.	.|.	.|.	5.84|5.84	4.94|4.94	0.65067|0.65067	.|.	.|0.755544	.|0.12069	.|N	.|0.502390	T|.	0.41534|.	0.1163|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.47935|.	-0.9078|.	3|.	.|0.20519	.|T	.|0.43	-0.0292|-0.0292	9.6158|9.6158	0.39690|0.39690	0.141:0.7886:0.0:0.0704|0.141:0.7886:0.0:0.0704	.|.	.|.	.|.	.|.	E|X	332|489;489;517;489	.|.	.|ENSP00000277165:S489X	Q|S	+|+	1|2	0|0	FAM120A|FAM120A	95329305|95329305	0.654000|0.654000	0.27367|0.27367	0.250000|0.250000	0.24296|0.24296	0.966000|0.966000	0.64601|0.64601	1.548000|1.548000	0.36201|0.36201	1.479000|1.479000	0.48272|0.48272	0.655000|0.655000	0.94253|0.94253	CAG|TCA	FAM120A	-	NULL		0.438	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	C	NM_014612		96289484	1	no_errors	ENST00000333936	ensembl	human	known	70_37	nonsense	SNP	0.841	G	G	96289484	C	G	96289484	4	3	168	1	0	0	0	0	0	1	0	0	5430	838	29	1	1496	1	FAM120A	9	96289484	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	494372	96289484	44923947	223	31940										
AKAP2	11217	genome.wustl.edu	37	chr9	112899137	112899137	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaaagaacaatactgcattaGaaaagtgaggccttcagagg	11	6	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:112899137G>C	ENST00000259318.7	+	2	827	c.620G>C	c.(619-621)aGa>aCa	p.R207T	AKAP2_ENST00000434623.2_Missense_Mutation_p.R296T|AKAP2_ENST00000374525.1_Missense_Mutation_p.R296T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R438T|AKAP2_ENST00000555236.1_Missense_Mutation_p.R438T|AKAP2_ENST00000510514.5_Missense_Mutation_p.R438T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R438T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	207										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TACTGCATTAGAAAAGTGAGG	0.502																																																	0													64	66	66					9																	112899137		2203	4300	6503	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.620G>C	9.37:g.112899137G>C	ENSP00000259318:p.Arg207Thr		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.R438T	ENST00000259318.7	37	c.1313	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330954	0.24167	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	6.17	5.27	0.74061	.	0.106984	0.64402	D	0.000020	T	0.61400	0.2344	L	0.54323	1.7	0.09310	N	0.999994	B;D;D;D;D;P;P;B	0.69078	0.184;0.997;0.985;0.997;0.995;0.639;0.639;0.264	B;D;P;D;P;B;B;B	0.63703	0.068;0.917;0.643;0.917;0.829;0.106;0.106;0.049	T	0.54649	-0.8262	10	0.51188	T	0.08	-24.4013	15.1071	0.72329	0.0684:0.0:0.9316:0.0	.	207;296;290;296;297;438;438;256	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	438;438;438;438;296;296;256;207	ENSP00000363654:R438T;ENSP00000305861:R438T;ENSP00000451476:R438T;ENSP00000421522:R438T;ENSP00000404782:R296T;ENSP00000363649:R296T;ENSP00000419268:R256T;ENSP00000259318:R207T	ENSP00000259318:R207T	R	+	2	0	PALM2-AKAP2;AKAP2	111938958	0.371000	0.25056	0.062000	0.19696	0.008000	0.06430	3.532000	0.53553	2.941000	0.99782	0.655000	0.94253	AGA	PALM2-AKAP2	-	NULL		0.502	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	G	NM_001004065		112899137	1	no_errors	ENST00000374530	ensembl	human	known	70_37	missense	SNP	0.132	C	C	112899137	G	C	112899137	3	2	168	1	0	0	0	0	1	0	0	0	451	942	33	1	893	1	AKAP2	9	112899137	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	16609653	112899137	28314294	224	31941										
CEP110	11064	genome.wustl.edu	37	chr9	123914931	123914931	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaagcttagagtgtgaagtaGaagaattacatagaactgtc	10	4	0	5			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:123914931G>C	ENST00000373855.1	+	26	4392	c.4132G>C	c.(4132-4134)Gaa>Caa	p.E1378Q	CNTRL_ENST00000373850.1_Missense_Mutation_p.E826Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1378Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.E826Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1378					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTGTGAAGTAGAAGAATTACA	0.338																																																	0													85	89	88					9																	123914931		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4132G>C	9.37:g.123914931G>C	ENSP00000362962:p.Glu1378Gln		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E1378Q	ENST00000373855.1	37	c.4132	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159518	0.78226	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;T	0.78246	2.54;2.54;2.54;2.54;-1.16	5.67	5.67	0.87782	.	.	.	.	.	T	0.79446	0.4447	L	0.60455	1.87	0.38381	D	0.945139	D	0.53151	0.958	P	0.47827	0.558	T	0.76982	-0.2757	9	0.22109	T	0.4	.	19.1299	0.93400	0.0:0.0:1.0:0.0	.	1378	Q7Z7A1	CNTRL_HUMAN	Q	1378;1378;1378;134;826;826;47;47	ENSP00000362962:E1378Q;ENSP00000238341:E1378Q;ENSP00000362956:E826Q;ENSP00000362953:E826Q;ENSP00000413014:E47Q	ENSP00000238341:E1378Q	E	+	1	0	CNTRL	122954752	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.955000	0.49121	2.836000	0.97738	0.655000	0.94253	GAA	CNTRL	-	NULL		0.338	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123914931	1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	C	C	123914931	G	C	123914931	3	2	168	1	0	0	0	0	1	0	0	0	3250	943	33	1	4226	1	CEP110	9	123914931	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	11015794	123914931	17298500	225	31942										
DAB2IP	153090	genome.wustl.edu	37	chr9	124534964	124534964	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtcacaaggtcctccggggtCcagccctcacctgcccgcag	11	18	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:124534964C>T	ENST00000408936.3	+	12	2339	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V	DAB2IP_ENST00000309989.1_Silent_p.V595V|DAB2IP_ENST00000259371.2_Silent_p.V691V			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	719	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTCCGGGGTCCAGCCCTCAC	0.572																																																	0													67	65	65					9																	124534964		2203	4300	6503	SO:0001819	synonymous_variant	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2157C>T	9.37:g.124534964C>T			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.V719	ENST00000408936.3	37	c.2157		9																																																																																			DAB2IP	-	pfam_DUF3498		0.572	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	C	NM_032552		124534964	1	no_errors	ENST00000408936	ensembl	human	known	70_37	silent	SNP	1.000	T	T	124534964	C	T	124534964	2	4	168	1	0	0	0	0	0	0	0	1	4224	842	30	1		1	DAB2IP	9	124534964	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	620033	124534964	16678467	226	31943										
ST6GALNAC6	30815	genome.wustl.edu	37	chr9	130652958	130652958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggaagaggtcgtcaaattgcCgcatgcggccgggagagacg	17	9	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:130652958C>T	ENST00000373146.1	-	5	841	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	221					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCAAATTGCCGCATGCGGCC	0.642																																																	0													39	40	40					9																	130652958		2203	4296	6499	SO:0001583	missense	30815			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.662G>A	9.37:g.130652958C>T	ENSP00000362239:p.Arg221Gln		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R221Q	ENST00000373146.1	37	c.662	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	C	4.540	0.100336	0.08731	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.81	-3.39	0.04868	.	1.163980	0.05740	N	0.601218	T	0.22166	0.0534	L	0.28649	0.875	0.28997	N	0.887688	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.38650	-0.9651	10	0.13108	T	0.6	-0.223	14.3766	0.66881	0.0:0.5516:0.0:0.4484	.	187;221	Q969X2-2;Q969X2	.;SIA7F_HUMAN	Q	221;187;221;187;221;187	ENSP00000362239:R221Q;ENSP00000362234:R187Q;ENSP00000362235:R221Q;ENSP00000362237:R187Q;ENSP00000291839:R221Q;ENSP00000405326:R187Q	ENSP00000291839:R221Q	R	-	2	0	ST6GALNAC6	129692779	0.130000	0.22417	0.274000	0.24659	0.212000	0.24457	0.134000	0.15932	-0.976000	0.03542	-1.945000	0.00491	CGG	ST6GALNAC6	-	pfam_Glyco_trans_29		0.642	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	C	NM_013443		130652958	-1	no_errors	ENST00000291839	ensembl	human	known	70_37	missense	SNP	0.250	T	T	130652958	C	T	130652958	3	4	168	1	0	0	0	0	1	0	0	0	15258	652	23	2	351	2	ST6GALNAC6	9	130652958	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6117994	130652958	10560473	227	31944										
C9orf50	375759	genome.wustl.edu	37	chr9	132375735	132375735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggccagcgcagtcccaacacGaggagctggccagggtctcc	14	15	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:132375735G>A	ENST00000372478.4	-	5	1223	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	341										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				GTCCCAACACGAGGAGCTGGC	0.657																																																	0													39	39	39					9																	132375735		2203	4300	6503	SO:0001583	missense	375759			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1022C>T	9.37:g.132375735G>A	ENSP00000361556:p.Ser341Leu		Q2M1I2|Q8NA65	Missense_Mutation	SNP	NULL	p.S341L	ENST00000372478.4	37	c.1022	CCDS35159.1	9	.	.	.	.	.	.	.	.	.	.	G	6.686	0.495172	0.12762	.	.	ENSG00000179058	ENST00000372478	T	0.23348	1.91	3.02	-3.29	0.05017	.	.	.	.	.	T	0.12050	0.0293	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24333	-1.0163	9	0.49607	T	0.09	0.0476	4.8908	0.13726	0.2478:0.3149:0.4373:0.0	.	341	Q5SZB4	CI050_HUMAN	L	341	ENSP00000361556:S341L	ENSP00000361556:S341L	S	-	2	0	C9orf50	131415556	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.175000	0.09825	-0.733000	0.04850	-1.573000	0.00871	TCG	C9orf50	-	NULL		0.657	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1	G	NM_199350		132375735	-1	no_errors	ENST00000372478	ensembl	human	known	70_37	missense	SNP	0.000	A	A	132375735	G	A	132375735	3	1	168	1	0	0	0	0	1	0	0	0	2492	1059	37	1	285	1	C9orf50	9	132375735	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1722777	132375735	8837696	228	31945										
RALGDS	5900	genome.wustl.edu	37	chr9	135985048	135985048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggggtccaccatcctcgtcGgaataggggaggatgcagcc	15	11	0	0	rs370089103		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:135985048G>A	ENST00000372050.3	-	4	570	c.549C>T	c.(547-549)tcC>tcT	p.S183S	RALGDS_ENST00000469972.1_5'Flank|RALGDS_ENST00000393160.3_Silent_p.S128S|RALGDS_ENST00000372062.3_Silent_p.S154S|RALGDS_ENST00000372047.3_Silent_p.S171S|RALGDS_ENST00000393157.3_Silent_p.S182S|RALGDS_ENST00000542690.1_Silent_p.S254S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	183	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CATCCTCGTCGGAATAGGGGA	0.552			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0								G	,	1,4405	2.1+/-5.4	0,1,2202	163	134	144		384,549	1	0	9		144	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RALGDS	NM_001042368.1,NM_006266.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	128/860,183/915	135985048	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.549C>T	9.37:g.135985048G>A			B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S254	ENST00000372050.3	37	c.762	CCDS6959.1	9																																																																																			RALGDS	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.552	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	G	NM_006266		135985048	-1	no_errors	ENST00000542690	ensembl	human	known	70_37	silent	SNP	0.000	A	A	135985048	G	A	135985048	2	1	168	1	0	0	0	0	0	0	0	1	13046	1103	39	2		2	RALGDS	9	135985048	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3609313	135985048	5228383	229	31946										
DBH	1621	genome.wustl.edu	37	chr9	136501831	136501831	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggggacactgcctattttgCggtgagtctctcctccctgc	11	13	1	1	rs377299166		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr9:136501831C>T	ENST00000393056.2	+	1	350	c.338C>T	c.(337-339)gCg>gTg	p.A113V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	113	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCCTATTTTGCGGTGAGTCTC	0.587																																																	0								C	VAL/ALA	0,4406		0,0,2203	72	51	58		338	4.3	1	9		58	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	DBH	NM_000787.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	113/618	136501831	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.339+1C>T	9.37:g.136501831C>T			Q5T381|Q96AG2	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.A113V	ENST00000393056.2	37	c.338	CCDS6977.2	9	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073142	0.55646	0.0	1.16E-4	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.75938	-0.98;-0.98	5.24	4.35	0.52113	DOMON domain (3);	0.048800	0.85682	D	0.000000	T	0.70098	0.3185	L	0.47716	1.5	0.40998	D	0.984909	B	0.32829	0.386	B	0.36244	0.22	T	0.71461	-0.4586	10	0.52906	T	0.07	-13.9109	14.0557	0.64767	0.0:0.4365:0.5635:0.0	.	113	P09172	DOPO_HUMAN	V	113;99;99	ENSP00000376776:A113V;ENSP00000263611:A99V	ENSP00000263611:A99V	A	+	2	0	DBH	135491652	1.000000	0.71417	0.997000	0.53966	0.188000	0.23474	4.965000	0.63708	1.214000	0.43395	0.561000	0.74099	GCG	DBH	-	pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain		0.587	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	C	NM_000787	Missense_Mutation	136501831	1	no_errors	ENST00000393056	ensembl	human	known	70_37	missense	SNP	1.000	T	T	136501831	C	T	136501831	5	4	168	1	0	0	0	0	0	0	1	0	4255	782	27	2	340	2	DBH	9	136501831	Splice_Site	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	516783	136501831	4711600	230	31947										
ADARB2	105	genome.wustl.edu	37	chr10	1779303	1779303	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttgcatttgagttgactgctCagccctccagaccctctgcc	8	15	2	3	rs372889691		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:1779303C>T	ENST00000381312.1	-	1	367	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	14					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTGACTGCTCAGCCCTCCAG	0.697																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	83	74	77		42	-0.6	0.2	10		77	0,8600		0,0,4300	no	coding-synonymous	ADARB2	NM_018702.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		14/740	1779303	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.42G>A	10.37:g.1779303C>T			B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.L14	ENST00000381312.1	37	c.42	CCDS7058.1	10																																																																																			ADARB2	-	NULL		0.697	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	C	NM_018702		1779303	-1	no_errors	ENST00000381312	ensembl	human	known	70_37	silent	SNP	0.671	T	T	1779303	C	T	1779303	2	4	168	1	0	0	0	0	0	0	0	1	283	813	29	1		1	ADARB2	10	1779303	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09		1779303	133755444	231	31948										
KLF6	1316	genome.wustl.edu	37	chr10	3821734	3821734	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tccacctctctgctccctcaGaggtgcctcttcatgtgcag	8	16	4	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:3821734G>C	ENST00000497571.1	-	4	1109	c.849C>G	c.(847-849)ctC>ctG	p.L283L	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_3'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	283					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGCTCCCTCAGAGGTGCCTCT	0.562																																																	0													89	81	84					10																	3821734		2203	4300	6503	SO:0001819	synonymous_variant	1316			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.849C>G	10.37:g.3821734G>C			B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L283	ENST00000497571.1	37	c.849	CCDS7060.1	10																																																																																			KLF6	-	pfscan_Znf_C2H2		0.562	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF6	HGNC	protein_coding	OTTHUMT00000046495.1	G			3821734	-1	no_errors	ENST00000497571	ensembl	human	known	70_37	silent	SNP	1.000	C	C	3821734	G	C	3821734	2	2	168	1	0	0	0	0	0	0	0	1	8370	929	33	1		1	KLF6	10	3821734	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2042431	3821734	131713013	232	31949										
KLF6	1316	genome.wustl.edu	37	chr10	3823849	3823849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgacctgtgtgcgtccgctgGtgtgctttcaagtgggagct	15	9	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:3823849G>T	ENST00000497571.1	-	2	920	c.660C>A	c.(658-660)caC>caA	p.H220Q	KLF6_ENST00000469435.1_Missense_Mutation_p.H220Q|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.H220Q	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	220					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GCGTCCGCTGGTGTGCTTTCA	0.667											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53	45	48					10																	3823849		2203	4300	6503	SO:0001583	missense	1316			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.660C>A	10.37:g.3823849G>T	ENSP00000419923:p.His220Gln	614	B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H220Q	ENST00000497571.1	37	c.660	CCDS7060.1	10	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070473	0.55539	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	D;D;D	0.86865	-2.18;-2.09;-2.09	4.88	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	H	0.95187	3.635	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.989;0.982	D	0.92121	0.5704	10	0.87932	D	0	.	10.616	0.45451	0.5629:0.0:0.4371:0.0	.	220;220;220	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	Q	220	ENSP00000419923:H220Q;ENSP00000445301:H220Q;ENSP00000419079:H220Q	ENSP00000419079:H220Q	H	-	3	2	KLF6	3813849	1.000000	0.71417	0.949000	0.38748	0.963000	0.63663	1.066000	0.30604	-0.721000	0.04929	-0.605000	0.04089	CAC	KLF6	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.667	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF6	HGNC	protein_coding	OTTHUMT00000046495.1	G			3823849	-1	no_errors	ENST00000497571	ensembl	human	known	70_37	missense	SNP	0.997	T	T	3823849	G	T	3823849	3	4	168	1	0	0	0	0	1	0	0	0	8370	1252	44	4	203	4	KLF6	10	3823849	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2115	3823849	131710898	233	31950										
ASB13	79754	genome.wustl.edu	37	chr10	5683875	5683875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcaacattcttgaccttggcCgcgtggtgaagggcagtctc	12	11	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:5683875C>T	ENST00000357700.6	-	5	593	c.567G>A	c.(565-567)gcG>gcA	p.A189A	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	189					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TGACCTTGGCCGCGTGGTGAA	0.537																																																	0													122	100	107					10																	5683875		2203	4300	6503	SO:0001819	synonymous_variant	79754			AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"Ankyrin repeat domain containing"	19765	protein-coding gene	gene with protein product		615055	"ankyrin repeat and SOCS box-containing 13"			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.567G>A	10.37:g.5683875C>T			A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.A189	ENST00000357700.6	37	c.567	CCDS7070.1	10																																																																																			ASB13	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.537	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB13	HGNC	protein_coding	OTTHUMT00000046564.1	C			5683875	-1	no_errors	ENST00000357700	ensembl	human	known	70_37	silent	SNP	0.008	T	T	5683875	C	T	5683875	2	4	168	1	0	0	0	0	0	0	0	1	1018	639	23	2		2	ASB13	10	5683875	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1860026	5683875	129850872	234	31951										
FRMD4A	55691	genome.wustl.edu	37	chr10	13852835	13852835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tttcatctgtgaatgctattCcaaagtactccttttccttc	4	11	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:13852835C>T	ENST00000357447.2	-	4	553	c.185G>A	c.(184-186)gGa>gAa	p.G62E	FRMD4A_ENST00000378503.1_Missense_Mutation_p.G62E|FRMD4A_ENST00000358621.4_Missense_Mutation_p.G47E|FRMD4A_ENST00000342409.2_Missense_Mutation_p.G78E	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	62	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAATGCTATTCCAAAGTACTC	0.493																																																	0													85	77	79					10																	13852835		2203	4300	6503	SO:0001583	missense	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.185G>A	10.37:g.13852835C>T	ENSP00000350032:p.Gly62Glu		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.G62E	ENST00000357447.2	37	c.185	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039991	0.75732	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.67	5.67	0.87782	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99383	1.0923	10	0.87932	D	0	-13.3478	18.5445	0.91042	0.0:1.0:0.0:0.0	.	78;95;62	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	E	47;62;62;95;78	ENSP00000351438:G47E;ENSP00000350032:G62E;ENSP00000367764:G62E;ENSP00000264546:G95E;ENSP00000344237:G78E	ENSP00000264546:G95E	G	-	2	0	FRMD4A	13892841	1.000000	0.71417	0.997000	0.53966	0.233000	0.25261	7.468000	0.80943	2.677000	0.91161	0.655000	0.94253	GGA	FRMD4A	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.493	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	C	NM_018027		13852835	-1	no_errors	ENST00000357447	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13852835	C	T	13852835	3	4	168	1	0	0	0	0	1	0	0	0	6069	855	30	1	3018	1	FRMD4A	10	13852835	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	8168960	13852835	121681912	235	31952										
SLC39A12	221074	genome.wustl.edu	37	chr10	18331702	18331702	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcctgcaaaactttggattGatcctaggttggctttctct	8	10	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:18331702G>A	ENST00000377369.2	+	13	2289	c.2016G>A	c.(2014-2016)ttG>ttA	p.L672L	SLC39A12_ENST00000377371.3_Silent_p.L671L|SLC39A12_ENST00000377374.4_Silent_p.L635L|SLC39A12_ENST00000539911.1_Silent_p.L538L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	672					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.L635F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACTTTGGATTGATCCTAGGTT	0.338																																																	1	Substitution - Missense(1)	urinary_tract(1)											112	107	108					10																	18331702		2203	4300	6503	SO:0001819	synonymous_variant	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.2016G>A	10.37:g.18331702G>A			B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	pfam_ZIP	p.L672	ENST00000377369.2	37	c.2016	CCDS44362.1	10																																																																																			SLC39A12	-	pfam_ZIP		0.338	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		G	NM_152725		18331702	1	no_errors	ENST00000377369	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18331702	G	A	18331702	2	1	168	1	0	0	0	0	0	0	0	1	14645	1281	45	1		1	SLC39A12	10	18331702	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	4478867	18331702	117203045	236	31953										
C10orf68	79741	genome.wustl.edu	37	chr10	33123816	33123816	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctaatcaacatacagtcaaaGagtcatggaggtaagaacaa	8	7	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:33123816G>C	ENST00000375030.2	+	15	1650	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	C10orf68_ENST00000375025.4_Missense_Mutation_p.K421N|C10orf68_ENST00000375028.3_Missense_Mutation_p.K361N			Q9H943	CJ068_HUMAN		385										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TACAGTCAAAGAGTCATGGAG	0.308																																																	0													44	40	42					10																	33123816		2197	4295	6492	SO:0001583	missense	79741																														ENST00000375030.2:c.1032G>C	10.37:g.33123816G>C	ENSP00000364170:p.Lys344Asn		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.K421N	ENST00000375030.2	37	c.1263		10	.	.	.	.	.	.	.	.	.	.	.	4.892	0.165698	0.09339	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.31510	1.51;1.49;1.5;1.49	2.24	1.33	0.21861	.	.	.	.	.	T	0.43853	0.1266	L	0.57536	1.79	0.09310	N	1	B;D;B;D	0.76494	0.001;0.999;0.0;0.999	B;D;B;D	0.71656	0.002;0.974;0.002;0.974	T	0.18085	-1.0348	9	0.33940	T	0.23	.	6.2233	0.20693	0.0:0.0:0.701:0.299	.	338;385;361;344	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	N	385;344;361;421;333	ENSP00000303710:K385N;ENSP00000364170:K344N;ENSP00000364168:K361N;ENSP00000364165:K421N	ENSP00000303710:K385N	K	+	3	2	C10orf68	33163822	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.012000	0.12699	0.513000	0.28278	-0.323000	0.08544	AAG	C10orf68	-	NULL		0.308	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	G			33123816	1	no_errors	ENST00000375025	ensembl	human	known	70_37	missense	SNP	0.004	C	C	33123816	G	C	33123816	3	2	168	1	0	0	0	0	1	0	0	0	1617	933	33	1	1201	1	C10orf68	10	33123816	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	14792114	33123816	102410931	237	31954										
CUL2	8453	genome.wustl.edu	37	chr10	35349897	35349897	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcttctgactccaaaactctCtatataaagaggaaaaatat	4	8	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:35349897C>T	ENST00000374748.1	-	5	536		c.e5-1		CUL2_ENST00000602371.1_Intron|CUL2_ENST00000374742.1_Splice_Site|CUL2_ENST00000374751.3_Splice_Site|CUL2_ENST00000374749.3_Splice_Site|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000537177.1_Splice_Site|CUL2_ENST00000374746.1_Splice_Site			Q13617	CUL2_HUMAN	cullin 2						cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CCAAAACTCTCTATATAAAGA	0.294																																																	0													89	83	85					10																	35349897		2203	4300	6503	SO:0001630	splice_region_variant	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.223-1G>A	10.37:g.35349897C>T			B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Splice_Site	SNP	-	e4-1	ENST00000374748.1	37	c.280-1	CCDS7179.1	10	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061438	0.76187	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7292	0.91728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL2	35389903	1.000000	0.71417	0.987000	0.45799	0.785000	0.44390	7.491000	0.81471	2.520000	0.84964	0.591000	0.81541	.	CUL2	-	-		0.294	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	C	NM_003591	Intron	35349897	-1	no_errors	ENST00000537177	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	35349897	C	T	35349897	5	4	168	1	0	0	0	0	0	0	1	0	4060	927	32	1	2087	1	CUL2	10	35349897	Splice_Site	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2226081	35349897	100184850	238	31955										
LRRTM3	347731	genome.wustl.edu	37	chr10	68687183	68687183	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tttacggtctaactccctgaGaaccatccctgtgcgaatat	7	12	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:68687183G>C	ENST00000361320.4	+	2	1087	c.509G>C	c.(508-510)aGa>aCa	p.R170T	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	170					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AACTCCCTGAGAACCATCCCT	0.488																																																	0													85	90	88					10																	68687183		2203	4300	6503	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.509G>C	10.37:g.68687183G>C	ENSP00000355187:p.Arg170Thr		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.R170T	ENST00000361320.4	37	c.509	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	G	8.078	0.771757	0.16051	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.56275	0.47	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.24736	0.0600	N	0.00859	-1.14	0.51767	D	0.999939	B;B	0.26318	0.146;0.12	B;B	0.29353	0.101;0.061	T	0.30880	-0.9963	10	0.10111	T	0.7	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	170;170	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	T	170	ENSP00000355187:R170T	ENSP00000355187:R170T	R	+	2	0	LRRTM3	68357189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.588000	0.74076	2.538000	0.85594	0.650000	0.86243	AGA	LRRTM3	-	smart_Leu-rich_rpt_typical-subtyp		0.488	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	G	NM_178011		68687183	1	no_errors	ENST00000361320	ensembl	human	known	70_37	missense	SNP	1.000	C	C	68687183	G	C	68687183	3	2	168	1	0	0	0	0	1	0	0	0	9064	942	33	1	515	1	LRRTM3	10	68687183	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	33337286	68687183	66847564	239	31956										
HKDC1	80201	genome.wustl.edu	37	chr10	71007183	71007183	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtctggaaccgtctgaggctGactgcattgccgtccagcat	12	12	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:71007183G>A	ENST00000354624.5	+	9	1232	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	HKDC1_ENST00000395086.2_Missense_Mutation_p.D367N	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	367	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTCTGAGGCTGACTGCATTGC	0.572																																																	0													128	123	125					10																	71007183		2203	4300	6503	SO:0001583	missense	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1099G>A	10.37:g.71007183G>A	ENSP00000346643:p.Asp367Asn		B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.D367N	ENST00000354624.5	37	c.1099	CCDS7288.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.187659	0.94923	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.97041	-4.22;-4.22	4.84	4.84	0.62591	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99601	1.0978	10	0.87932	D	0	-29.4257	18.1044	0.89516	0.0:0.0:1.0:0.0	.	367	Q2TB90	HKDC1_HUMAN	N	367	ENSP00000346643:D367N;ENSP00000378521:D367N	ENSP00000346643:D367N	D	+	1	0	HKDC1	70677189	1.000000	0.71417	0.949000	0.38748	0.877000	0.50540	9.657000	0.98554	2.498000	0.84270	0.561000	0.74099	GAC	HKDC1	-	pfam_Hexokinase_C		0.572	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	G	NM_025130		71007183	1	no_errors	ENST00000354624	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71007183	G	A	71007183	3	1	168	1	0	0	0	0	1	0	0	0	7213	1290	45	1	1133	1	HKDC1	10	71007183	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2320000	71007183	64527564	240	31957										
SGPL1	8879	genome.wustl.edu	37	chr10	72633155	72633155	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttggtgttgtatagtgacaaGaagtacaggaactatcagtt	11	4	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:72633155G>A	ENST00000373202.3	+	12	1307	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	369					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						ATAGTGACAAGAAGTACAGGA	0.488																																					Colon(151;1054 2458 6676 40971)												0													148	127	134					10																	72633155		2203	4300	6503	SO:0001819	synonymous_variant	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1107G>A	10.37:g.72633155G>A			B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.K369	ENST00000373202.3	37	c.1107	CCDS31216.1	10																																																																																			SGPL1	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.488	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	G	NM_003901		72633155	1	no_errors	ENST00000373202	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72633155	G	A	72633155	2	1	168	1	0	0	0	0	0	0	0	1	14248	933	33	1		1	SGPL1	10	72633155	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1625972	72633155	62901592	241	31958										
CDH23	5660	genome.wustl.edu	37	chr10	73574925	73574925	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggagacgctgaccgctgccGaggccactgccttcgagcgc	14	15	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:73574925G>A	ENST00000394936.3	-	0	2866				CDH23_ENST00000398788.3_Missense_Mutation_p.E1079K|CDH23_ENST00000224721.6_Missense_Mutation_p.E3324K|CDH23_ENST00000475158.1_3'UTR			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GACCGCTGCCGAGGCCACTGC	0.667																																																	0													19	26	23					10																	73574925		2160	4254	6414	SO:0001628	intergenic_variant	64072			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574925G>A			P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E3322K	ENST00000394936.3	37	c.9964	CCDS7311.1	10	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005251	0.74932	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.77877	-1.13	5.14	5.14	0.70334	.	0.292577	0.32068	N	0.006639	T	0.78007	0.4216	N	0.08118	0	0.50813	D	0.999891	P;D;P;P	0.71674	0.683;0.998;0.509;0.509	B;D;B;B	0.73380	0.084;0.98;0.039;0.039	T	0.82936	-0.0210	10	0.54805	T	0.06	.	18.6266	0.91342	0.0:0.0:1.0:0.0	.	181;216;3284;3319	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	K	3324;3284;3322;1079	ENSP00000381768:E1079K	ENSP00000224721:E3324K	E	+	1	0	CDH23	73244931	1.000000	0.71417	0.512000	0.27736	0.631000	0.37964	6.100000	0.71473	2.412000	0.81896	0.655000	0.94253	GAG	CDH23	-	NULL		0.667	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048553.1	G	NM_002778		73574925	1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	0.994	A	A	73574925	G	A	73574925	1	1	168	0	1	0	0	0	0	0	0	0	3113	1059	37	1		1	CDH23	10	73574925	IGR	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	941770	73574925	61959822	242	31959										
FAS	355	genome.wustl.edu	37	chr10	90773980	90773980	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcaatgaagccaaaatagatGagatcaagaatgacaatgtc	8	6	2	5			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:90773980G>A	ENST00000355740.2	+	9	1001	c.781G>A	c.(781-783)Gag>Aag	p.E261K	FAS_ENST00000352159.4_3'UTR|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000357339.2_Missense_Mutation_p.E240K|FAS_ENST00000355279.2_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	CAAAATAGATGAGATCAAGAA	0.378																																																	0													125	116	119					10																	90773980		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.781G>A	10.37:g.90773980G>A	ENSP00000347979:p.Glu261Lys		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.E261K	ENST00000355740.2	37	c.781	CCDS7393.1	10	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369578	0.82463	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.94184	-3.37;-3.37	4.65	3.66	0.41972	Death (3);DEATH-like (2);	0.795670	0.11554	N	0.552457	D	0.95452	0.8523	M	0.79926	2.475	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.59056	0.851;0.845	D	0.93684	0.7001	10	0.46703	T	0.11	-22.8945	10.006	0.41957	0.0:0.2055:0.7944:0.0	.	240;261	P25445-6;P25445	.;TNR6_HUMAN	K	288;261;240	ENSP00000347979:E261K;ENSP00000349896:E240K	ENSP00000347979:E261K	E	+	1	0	FAS	90763960	0.868000	0.29978	1.000000	0.80357	0.993000	0.82548	2.005000	0.40864	2.523000	0.85059	0.650000	0.86243	GAG	FAS	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death		0.378	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049274.3	G			90773980	1	no_errors	ENST00000355740	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90773980	G	A	90773980	3	1	168	1	0	0	0	0	1	0	0	0	5699	1291	45	1	815	1	FAS	10	90773980	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	17199055	90773980	44760767	243	31960										
CYP2C18	1562	genome.wustl.edu	37	chr10	96493117	96493117	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acaaagaattccccaacccaGagatgtttgaccctggccac	7	14	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:96493117G>A	ENST00000285979.6	+	8	1412	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E346K|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	405					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CCCCAACCCAGAGATGTTTGA	0.403																																																	0													165	154	158					10																	96493117		2203	4300	6503	SO:0001583	missense	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1213G>A	10.37:g.96493117G>A	ENSP00000285979:p.Glu405Lys		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E405K	ENST00000285979.6	37	c.1213	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	g	6.726	0.502616	0.12822	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.73047	-0.71;-0.71	4.05	2.06	0.26882	.	0.531595	0.18874	U	0.128772	T	0.61022	0.2314	L	0.52905	1.665	0.49798	D	0.999823	B;B	0.19935	0.04;0.004	B;B	0.20955	0.032;0.008	T	0.56269	-0.8007	10	0.36615	T	0.2	.	7.2027	0.25889	0.1014:0.172:0.7266:0.0	.	346;405	Q4VAT5;P33260	.;CP2CI_HUMAN	K	346;405	ENSP00000341293:E346K;ENSP00000285979:E405K	ENSP00000285979:E405K	E	+	1	0	CYP2C18	96483107	0.042000	0.20092	0.971000	0.41717	0.051000	0.14879	0.587000	0.23909	0.896000	0.36366	0.455000	0.32223	GAG	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.403	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	G	NM_000772		96493117	1	no_errors	ENST00000285979	ensembl	human	known	70_37	missense	SNP	0.746	A	A	96493117	G	A	96493117	3	1	168	1	0	0	0	0	1	0	0	0	4170	943	33	1	1243	1	CYP2C18	10	96493117	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	5719137	96493117	39041630	244	31961										
SUFU	51684	genome.wustl.edu	37	chr10	104353761	104353761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtccacagtgctggcggccCctggctgataactgacatgc	12	13	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:104353761C>T	ENST00000369902.3	+	6	861	c.695C>T	c.(694-696)cCc>cTc	p.P232L	SUFU_ENST00000369899.2_Missense_Mutation_p.P232L|SUFU_ENST00000471000.1_3'UTR|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000423559.2_Missense_Mutation_p.P232L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	232					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCTGGCGGCCCCTGGCTGATA	0.562			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																														yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													121	110	114					10																	104353761		2203	4300	6503	SO:0001583	missense	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.695C>T	10.37:g.104353761C>T	ENSP00000358918:p.Pro232Leu		Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein	p.P232L	ENST00000369902.3	37	c.695	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746774	0.89663	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.85861	-2.04;-2.04;-2.04	5.87	4.96	0.65561	Suppressor of fused domain (1);	0.091491	0.85682	D	0.000000	D	0.92289	0.7554	M	0.91920	3.255	0.80722	D	1	D;D;D	0.67145	0.985;0.967;0.996	P;P;P	0.56823	0.807;0.563;0.804	D	0.93585	0.6916	10	0.72032	D	0.01	-16.5018	15.406	0.74877	0.0:0.9323:0.0:0.0677	.	232;232;232	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	L	232	ENSP00000358918:P232L;ENSP00000358915:P232L;ENSP00000411597:P232L	ENSP00000358915:P232L	P	+	2	0	SUFU	104343751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.664000	0.61540	2.785000	0.95823	0.655000	0.94253	CCC	SUFU	-	pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein		0.562	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	C	NM_016169		104353761	1	no_errors	ENST00000369902	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104353761	C	T	104353761	3	4	168	1	0	0	0	0	1	0	0	0	15398	623	22	4	717	4	SUFU	10	104353761	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	7860644	104353761	31180986	245	31962										
ADRA2A	150	genome.wustl.edu	37	chr10	112839110	112839110	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cacgatttccgccgcgccttCaagaagatcctctgtcgggg	11	14	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:112839110C>T	ENST00000280155.2	+	1	2321	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	437					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCGCGCCTTCAAGAAGATCC	0.592																																					Esophageal Squamous(173;605 2658 7278 49362)												0													90	90	90					10																	112839110		2203	4300	6503	SO:0001819	synonymous_variant	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1356C>T	10.37:g.112839110C>T			B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt	p.F452	ENST00000280155.2	37	c.1356	CCDS7569.2	10																																																																																			ADRA2A	-	prints_Adren_rcpt_A2A,prints_Adrnrgc_rcpt,prints_Musac_rcpt		0.592	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	C	NM_000681		112839110	1	no_errors	ENST00000280155	ensembl	human	known	70_37	silent	SNP	1.000	T	T	112839110	C	T	112839110	2	4	168	1	0	0	0	0	0	0	0	1	337	825	29	1		1	ADRA2A	10	112839110	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	8485349	112839110	22695637	246	31963										
DMBT1	1755	genome.wustl.edu	37	chr10	124348535	124348535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccgagtggaggtcctataccGaggctcttggggcaccgtgt	15	11	1	0	rs371683770		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:124348535G>A	ENST00000338354.3	+	17	1965	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.R620Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R610Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R610Q|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	620	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCCTATACCGAGGCTCTTGG	0.592																																					Ovarian(182;93 2026 18125 22222 38972)												0								G	,GLN/ARG,GLN/ARG	3,4015		0,3,2006	342	250	280		,1859,1829	0.6	1	10		280	0,8298		0,0,4149	no	intron,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,43,43	0,3,6155	AA,AG,GG		0.0,0.0747,0.0244	,probably-damaging,probably-damaging	,620/2414,610/2404	124348535	3,12313	2009	4149	6158	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1859G>A	10.37:g.124348535G>A	ENSP00000342210:p.Arg620Gln		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.R620Q	ENST00000338354.3	37	c.1859		10	.	.	.	.	.	.	.	.	.	.	G	4.039	0.004803	0.07866	7.47E-4	0.0	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.19	0.593	0.17478	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.889113	0.09321	N	0.818202	T	0.11410	0.0278	N	0.03881	-0.34	0.09310	N	1	B;B;B	0.18013	0.02;0.02;0.025	B;B;B	0.13407	0.005;0.005;0.009	T	0.33624	-0.9861	10	0.07325	T	0.83	.	7.8775	0.29603	0.3697:0.0:0.6303:0.0	.	620;610;620	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	Q	620;620;620;620;620;620;610;620;610	ENSP00000342210:R620Q;ENSP00000343175:R610Q;ENSP00000357905:R620Q;ENSP00000357951:R610Q	ENSP00000342210:R620Q	R	+	2	0	DMBT1	124338525	0.000000	0.05858	0.959000	0.39883	0.822000	0.46500	-1.288000	0.02783	0.150000	0.19136	0.485000	0.47835	CGA	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	G	NM_004406		124348535	1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	0.001	A	A	124348535	G	A	124348535	3	1	168	1	0	0	0	0	1	0	0	0	4587	1058	37	1	1925	1	DMBT1	10	124348535	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	11509425	124348535	11186212	247	31964										
DMBT1	1755	genome.wustl.edu	37	chr10	124399643	124399643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggaggacagacctccgtattCacgtcagctgcagaatgctt	11	11	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr10:124399643C>T	ENST00000338354.3	+	52	6749	c.6643C>T	c.(6643-6645)Cac>Tac	p.H2215Y	DMBT1_ENST00000368956.2_Missense_Mutation_p.H1587Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.H1587Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.H2215Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.H2205Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H2205Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.H935Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2215	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTCCGTATTCACGTCAGCTG	0.507																																					Ovarian(182;93 2026 18125 22222 38972)												0													177	165	169					10																	124399643		2120	4250	6370	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6643C>T	10.37:g.124399643C>T	ENSP00000342210:p.His2215Tyr		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.H2344Y	ENST00000338354.3	37	c.7030		10	.	.	.	.	.	.	.	.	.	.	C	4.562	0.104408	0.08731	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.63	3.79	0.43588	Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.72137	0.3423	L	0.31926	0.97	0.09310	N	1	P;B;B;B;B;B;B	0.34462	0.454;0.222;0.113;0.091;0.091;0.091;0.111	B;B;B;B;B;B;B	0.27500	0.08;0.08;0.055;0.032;0.026;0.032;0.054	T	0.60875	-0.7176	9	0.48119	T	0.1	.	9.4763	0.38873	0.0:0.7868:0.0:0.2132	.	935;2195;1464;2344;1587;2205;2215	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Y	2215;2344;2215;2215;2215;2214;1587;2205;1587;1587;2215;2205;1587;361;935	ENSP00000342210:H2215Y;ENSP00000343175:H2205Y;ENSP00000327747:H1587Y;ENSP00000357905:H2215Y;ENSP00000357951:H2205Y;ENSP00000357952:H1587Y;ENSP00000352593:H935Y	ENSP00000331522:H1587Y	H	+	1	0	DMBT1	124389633	0.006000	0.16342	0.001000	0.08648	0.013000	0.08279	0.988000	0.29616	0.748000	0.32831	0.655000	0.94253	CAC	DMBT1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.507	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124399643	1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	0.001	T	T	124399643	C	T	124399643	3	4	168	1	0	0	0	0	1	0	0	0	4587	826	29	1	6849	1	DMBT1	10	124399643	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	51108	124399643	11135104	248	31965										
HRAS	3265	genome.wustl.edu	37	chr11	533515	533515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcttcgggcgaggtcctgagCctgccgagattccacagtgc	14	13	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:533515C>T	ENST00000451590.1	-	4	575	c.388G>A	c.(388-390)Gct>Act	p.A130T	HRAS_ENST00000311189.7_Missense_Mutation_p.A130T|HRAS_ENST00000397596.2_Missense_Mutation_p.A130T|HRAS_ENST00000397594.1_Missense_Mutation_p.A130T|HRAS_ENST00000417302.1_Missense_Mutation_p.A130T|HRAS_ENST00000468682.2_5'Flank	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	130					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTCCTGAGCCTGCCGAGAT	0.637		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	0													173	155	161					11																	533515		2202	4300	6502	SO:0001583	missense	3265	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.388G>A	11.37:g.533515C>T	ENSP00000407586:p.Ala130Thr		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A130T	ENST00000451590.1	37	c.388	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.388159	0.95988	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	4.08	4.08	0.47627	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88232	0.6381	M	0.85777	2.775	0.80722	D	1	D;D	0.60160	0.987;0.979	P;P	0.56434	0.764;0.798	D	0.90929	0.4789	10	0.87932	D	0	.	15.6446	0.77039	0.0:1.0:0.0:0.0	.	130;130	P01112-2;P01112	.;RASH_HUMAN	T	130	ENSP00000380722:A130T;ENSP00000380723:A130T;ENSP00000407586:A130T;ENSP00000388246:A130T;ENSP00000309845:A130T	ENSP00000309845:A130T	A	-	1	0	HRAS	523515	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.494000	0.81503	1.997000	0.58415	0.561000	0.74099	GCT	HRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.637	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	HGNC	protein_coding	OTTHUMT00000259403.2	C	NM_176795		533515	-1	no_errors	ENST00000311189	ensembl	human	known	70_37	missense	SNP	1.000	T	T	533515	C	T	533515	3	4	168	1	0	0	0	0	1	0	0	0	7368	739	26	4	256	4	HRAS	11	533515	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09		533515	134473001	249	31966										
LDHC	3948	genome.wustl.edu	37	chr11	18434310	18434310	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttgagaagctaattgaggatGatgaaaactcccagtgtaaa	10	5	0	4	rs372373685		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:18434310G>A	ENST00000541669.1	+	2	157	c.46G>A	c.(46-48)Gat>Aat	p.D16N	LDHC_ENST00000544105.1_Missense_Mutation_p.D16N|LDHC_ENST00000546146.1_Missense_Mutation_p.D16N|LDHC_ENST00000537486.1_Missense_Mutation_p.D16N|LDHC_ENST00000280704.4_Missense_Mutation_p.D16N|LDHC_ENST00000535809.1_Missense_Mutation_p.D16N|LDHC_ENST00000536880.1_Missense_Mutation_p.D16N			P07864	LDHC_HUMAN	lactate dehydrogenase C	16					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATTGAGGATGATGAAAACTC	0.413																																																	0													152	146	148					11																	18434310		2199	4293	6492	SO:0001583	missense	3948			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"cancer/testis antigen 32"	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.46G>A	11.37:g.18434310G>A	ENSP00000437783:p.Asp16Asn		D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.D16N	ENST00000541669.1	37	c.46	CCDS7840.1	11	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962690	0.53507	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000537486;ENST00000544105;ENST00000535809	D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.38	5.38	0.77491	NAD(P)-binding domain (1);	0.470425	0.23983	N	0.042642	D	0.88157	0.6361	L	0.54323	1.7	0.31707	N	0.640046	B;B	0.14438	0.01;0.002	B;B	0.11329	0.006;0.001	D	0.85496	0.1188	10	0.40728	T	0.16	-8.9476	14.5121	0.67794	0.0:0.0:1.0:0.0	.	16;16	G3XAP5;P07864	.;LDHC_HUMAN	N	16	ENSP00000437783:D16N;ENSP00000280704:D16N;ENSP00000443414:D16N;ENSP00000439555:D16N;ENSP00000441478:D16N;ENSP00000439060:D16N;ENSP00000443997:D16N	ENSP00000280704:D16N	D	+	1	0	LDHC	18390886	1.000000	0.71417	0.307000	0.25127	0.002000	0.02628	4.724000	0.61972	2.793000	0.96121	0.655000	0.94253	GAT	LDHC	-	NULL		0.413	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	HGNC	protein_coding	OTTHUMT00000395892.1	G	NM_017448		18434310	1	no_errors	ENST00000280704	ensembl	human	known	70_37	missense	SNP	0.805	A	A	18434310	G	A	18434310	3	1	168	1	0	0	0	0	1	0	0	0	8722	1290	45	1	48	1	LDHC	11	18434310	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	17900795	18434310	116572206	250	31967										
ZDHHC5	25921	genome.wustl.edu	37	chr11	57466157	57466157	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctacctttggcaaaagttttCacttcgatccactatccagt	5	12	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:57466157C>G	ENST00000287169.3	+	11	2611	c.1249C>G	c.(1249-1251)Cac>Gac	p.H417D	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.H364D	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	417					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAAAAGTTTTCACTTCGATCC	0.567																																																	0													98	84	88					11																	57466157		2201	4296	6497	SO:0001583	missense	25921			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1249C>G	11.37:g.57466157C>G	ENSP00000287169:p.His417Asp		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.H417D	ENST00000287169.3	37	c.1249	CCDS7965.1	11	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654805	0.29425	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.82344	0.39;1.39;-1.6	5.09	5.09	0.68999	.	0.591884	0.18445	N	0.141004	T	0.70806	0.3266	N	0.08118	0	0.34043	D	0.655244	B	0.20887	0.049	B	0.22601	0.04	T	0.70799	-0.4774	10	0.31617	T	0.26	-12.1786	18.2951	0.90143	0.0:1.0:0.0:0.0	.	417	Q9C0B5	ZDHC5_HUMAN	D	364;417;251	ENSP00000432202:H364D;ENSP00000287169:H417D;ENSP00000435722:H251D	ENSP00000287169:H417D	H	+	1	0	ZDHHC5	57222733	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.745000	0.47459	2.656000	0.90262	0.563000	0.77884	CAC	ZDHHC5	-	NULL		0.567	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1	C	NM_015457		57466157	1	no_errors	ENST00000287169	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57466157	C	G	57466157	3	3	168	1	0	0	0	0	1	0	0	0	17648	826	29	1	1287	1	ZDHHC5	11	57466157	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	39031847	57466157	77540359	251	31968										
ATL3	25923	genome.wustl.edu	37	chr11	63410919	63410919	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gacatcggagaaacatgagtGaatgtgatttcgaacattct	10	6	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:63410919G>A	ENST00000398868.3	-	8	1036	c.760C>T	c.(760-762)Cac>Tac	p.H254Y	ATL3_ENST00000332645.4_Missense_Mutation_p.H281Y|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.H236Y	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	254	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AAACATGAGTGAATGTGATTT	0.418																																																	0													118	114	115					11																	63410919		1956	4144	6100	SO:0001583	missense	25923				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.760C>T	11.37:g.63410919G>A	ENSP00000381844:p.His254Tyr		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.H281Y	ENST00000398868.3	37	c.841	CCDS41663.1	11	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613609	0.66672	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.74632	-0.86;-0.86;-0.86	5.33	5.33	0.75918	Guanylate-binding protein, N-terminal (1);	0.164082	0.56097	D	0.000034	T	0.77143	0.4087	M	0.82323	2.585	0.52501	D	0.99995	B	0.32573	0.376	B	0.31016	0.123	T	0.79923	-0.1598	10	0.72032	D	0.01	-13.3019	16.5876	0.84731	0.0:0.0:1.0:0.0	.	254	Q6DD88	ATLA3_HUMAN	Y	254;281;236	ENSP00000381844:H254Y;ENSP00000329034:H281Y;ENSP00000437593:H236Y	ENSP00000329034:H281Y	H	-	1	0	ATL3	63167495	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.405000	0.97313	2.508000	0.84585	0.454000	0.30748	CAC	ATL3	-	pfam_Guanylate-bd_N		0.418	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1	G	NM_015459		63410919	-1	no_errors	ENST00000332645	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63410919	G	A	63410919	3	1	168	1	0	0	0	0	1	0	0	0	1109	1290	45	1	889	1	ATL3	11	63410919	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	5944762	63410919	71595597	252	31969										
BAD	572	genome.wustl.edu	37	chr11	64051746	64051746	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gatgatgcttgccggagcctGagggcccgtcccctgcgggg	17	13	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:64051746G>C	ENST00000394532.3	-	1	365	c.95C>G	c.(94-96)tCa>tGa	p.S32*	GPR137_ENST00000411458.1_5'Flank|GPR137_ENST00000313074.3_5'Flank|GPR137_ENST00000539851.1_5'Flank|BAD_ENST00000309032.3_Nonsense_Mutation_p.S32*|GPR137_ENST00000377702.4_5'Flank|BAD_ENST00000544785.1_Nonsense_Mutation_p.S32*|GPR137_ENST00000438980.2_5'Flank|BAD_ENST00000394531.3_Nonsense_Mutation_p.S32*	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	32					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GCCGGAGCCTGAGGGCCCGTC	0.652																																																	0													54	56	56					11																	64051746		2201	4296	6497	SO:0001587	stop_gained	572			AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.95C>G	11.37:g.64051746G>C	ENSP00000378040:p.Ser32*		O14803|Q6FH21	Nonsense_Mutation	SNP	pfam_Bcl-2_BAD	p.S32*	ENST00000394532.3	37	c.95	CCDS8065.1	11	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803475	0.50315	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000544785;ENST00000394531	.	.	.	3.07	2.15	0.27550	.	1.962480	0.02763	N	0.118807	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	6.4327	6.1719	0.20422	0.1459:0.0:0.8541:0.0	.	.	.	.	X	32	.	ENSP00000309103:S32X	S	-	2	0	BAD	63808322	0.005000	0.15991	0.008000	0.14137	0.005000	0.04900	1.054000	0.30455	0.624000	0.30286	-0.258000	0.10820	TCA	BAD	-	pfam_Bcl-2_BAD		0.652	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BAD	HGNC	protein_coding	OTTHUMT00000259180.2	G	NM_032989		64051746	-1	no_errors	ENST00000309032	ensembl	human	known	70_37	nonsense	SNP	0.007	C	C	64051746	G	C	64051746	4	2	168	1	0	0	0	0	0	1	0	0	1286	1294	45	1	423	1	BAD	11	64051746	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	640827	64051746	70954770	253	31970										
SF3B2	10992	genome.wustl.edu	37	chr11	65830913	65830913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttgatcggaccccttgggggGaactggaaccatctgatgaa	13	9	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:65830913G>A	ENST00000322535.6	+	18	2177	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	SF3B2_ENST00000528302.1_Missense_Mutation_p.E693K	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	710					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTTGGGGGGAACTGGAACC	0.433																																																	0													54	58	57					11																	65830913		2201	4295	6496	SO:0001583	missense	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2128G>A	11.37:g.65830913G>A	ENSP00000318861:p.Glu710Lys		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.E710K	ENST00000322535.6	37	c.2128	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214316	0.79352	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.55	5.55	0.83447	.	0.102411	0.64402	D	0.000004	T	0.73466	0.3590	M	0.88031	2.925	0.80722	D	1	B	0.24576	0.106	B	0.23852	0.049	T	0.73375	-0.4002	9	0.49607	T	0.09	-12.5132	17.0751	0.86584	0.0:0.0:1.0:0.0	.	710	Q13435	SF3B2_HUMAN	K	693;710;614	.	ENSP00000318861:E710K	E	+	1	0	SF3B2	65587489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.860000	0.92272	2.615000	0.88500	0.632000	0.83419	GAA	SF3B2	-	NULL		0.433	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	G			65830913	1	no_errors	ENST00000322535	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65830913	G	A	65830913	3	1	168	1	0	0	0	0	1	0	0	0	14181	1175	41	1	2198	1	SF3B2	11	65830913	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1779167	65830913	69175603	254	31971										
NUMA1	4926	genome.wustl.edu	37	chr11	71719762	71719762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actgagtggggtcccctcctCgcagctcagatccaggctgt	12	14	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:71719762C>T	ENST00000393695.3	-	20	5519	c.5188G>A	c.(5188-5190)Gag>Aag	p.E1730K	NUMA1_ENST00000351960.6_Missense_Mutation_p.E594K|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1716K	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTCCCCTCCTCGCAGCTCAGA	0.552			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													70	68	69					11																	71719762		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5188G>A	11.37:g.71719762C>T	ENSP00000377298:p.Glu1730Lys			Missense_Mutation	SNP	superfamily_Prefoldin	p.E1730K	ENST00000393695.3	37	c.5188	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890889	0.72524	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.20332	2.08;2.54;2.55	4.74	4.74	0.60224	.	0.000000	0.53938	D	0.000048	T	0.27384	0.0672	N	0.24115	0.695	0.32871	D	0.509263	D;D;D;D;D	0.71674	0.998;0.995;0.977;0.998;0.992	P;D;P;P;P	0.70716	0.811;0.97;0.519;0.811;0.654	T	0.10314	-1.0635	10	0.23302	T	0.38	.	11.1594	0.48507	0.0:0.9106:0.0:0.0894	.	1736;1200;1716;1730;594	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9	.;.;.;NUMA1_HUMAN;.	K	594;1716;1730;1279;685	ENSP00000260051:E594K;ENSP00000351851:E1716K;ENSP00000377298:E1730K	ENSP00000260051:E594K	E	-	1	0	NUMA1	71397410	0.991000	0.36638	0.983000	0.44433	0.997000	0.91878	3.518000	0.53451	2.618000	0.88619	0.561000	0.74099	GAG	NUMA1	-	NULL		0.552	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	C			71719762	-1	no_errors	ENST00000393695	ensembl	human	known	70_37	missense	SNP	0.923	T	T	71719762	C	T	71719762	3	4	168	1	0	0	0	0	1	0	0	0	10774	893	31	1	1191	1	NUMA1	11	71719762	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	5888849	71719762	63286754	255	31972										
ARHGEF17	9828	genome.wustl.edu	37	chr11	73021844	73021844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cttcaggttctggtgggagcGaattgagcaatggggaggca	17	6	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:73021844G>A	ENST00000263674.3	+	1	2511	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	721					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGTGGGAGCGAATTGAGCAA	0.652																																																	0													39	41	40					11																	73021844		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2161G>A	11.37:g.73021844G>A	ENSP00000263674:p.Glu721Lys		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.E721K	ENST00000263674.3	37	c.2161	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787570	0.49997	.	.	ENSG00000110237	ENST00000263674	T	0.59364	0.27	4.23	4.23	0.50019	.	0.379668	0.22995	N	0.053156	T	0.42040	0.1185	N	0.24115	0.695	0.28967	N	0.889485	B	0.32071	0.355	B	0.17098	0.017	T	0.51482	-0.8700	10	0.87932	D	0	-1.6964	15.3537	0.74412	0.0:0.0:1.0:0.0	.	721	Q96PE2	ARHGH_HUMAN	K	721	ENSP00000263674:E721K	ENSP00000263674:E721K	E	+	1	0	ARHGEF17	72699492	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.433000	0.97501	2.173000	0.68751	0.561000	0.74099	GAA	ARHGEF17	-	NULL		0.652	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	G	NM_014786		73021844	1	no_errors	ENST00000263674	ensembl	human	known	70_37	missense	SNP	0.994	A	A	73021844	G	A	73021844	3	1	168	1	0	0	0	0	1	0	0	0	900	1059	37	1	2163	1	ARHGEF17	11	73021844	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1302082	73021844	61984672	256	31973										
ALG8	79053	genome.wustl.edu	37	chr11	77830290	77830290	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaagccattgtactgaaaatGaatatctggacttaggtcaa	8	6	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:77830290G>A	ENST00000299626.5	-	5	555	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Missense_Mutation_p.H162Y	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	162					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TACTGAAAATGAATATCTGGA	0.323																																																	0													74	70	71					11																	77830290		2200	4289	6489	SO:0001583	missense	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.484C>T	11.37:g.77830290G>A	ENSP00000299626:p.His162Tyr		A6NDW6|O60860	Missense_Mutation	SNP	pfam_Glyco_trans_ALG6/ALG8	p.H162Y	ENST00000299626.5	37	c.484	CCDS8258.1	11	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762666	0.89932	.	.	ENSG00000159063	ENST00000299626;ENST00000376156;ENST00000525755;ENST00000530454;ENST00000525870;ENST00000527099	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.54	5.54	0.83059	.	0.042873	0.85682	D	0.000000	D	0.97486	0.9177	H	0.95437	3.67	0.80722	D	1	D;D;D	0.76494	0.996;0.993;0.999	D;D;D	0.81914	0.995;0.983;0.983	D	0.98023	1.0372	10	0.87932	D	0	-13.4446	19.6745	0.95926	0.0:0.0:1.0:0.0	.	162;162;162	B3KQL8;Q9BVK2;A6NDW6	.;ALG8_HUMAN;.	Y	162;162;111;163;74;74	ENSP00000299626:H162Y;ENSP00000365326:H162Y;ENSP00000435467:H111Y;ENSP00000434660:H163Y;ENSP00000435417:H74Y;ENSP00000436064:H74Y	ENSP00000299626:H162Y	H	-	1	0	ALG8	77507938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.633000	0.90999	2.880000	0.98712	0.650000	0.86243	CAT	ALG8	-	pfam_Glyco_trans_ALG6/ALG8		0.323	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	G	NM_024079		77830290	-1	no_errors	ENST00000299626	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77830290	G	A	77830290	3	1	168	1	0	0	0	0	1	0	0	0	523	1290	45	1	1191	1	ALG8	11	77830290	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	4808446	77830290	57176226	257	31974										
FAT3	120114	genome.wustl.edu	37	chr11	92616455	92616455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccgcatcctgacagcccggcGgggcgtggtcgtgtgcagtg	17	13	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:92616455G>A	ENST00000298047.6	+	23	12850	c.12833G>A	c.(12832-12834)cGg>cAg	p.R4278Q	FAT3_ENST00000533797.1_Missense_Mutation_p.R613Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R4128Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R4278Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4278					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAGCCCGGCGGGGCGTGGTC	0.662										TCGA Ovarian(4;0.039)																																							0													41	50	47					11																	92616455		2092	4197	6289	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12833G>A	11.37:g.92616455G>A	ENSP00000298047:p.Arg4278Gln		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R4278Q	ENST00000298047.6	37	c.12833		11	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005304	0.93287	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.87334	-0.88;-0.9;-0.88;-2.24	5.85	5.85	0.93711	.	.	.	.	.	D	0.92489	0.7615	M	0.72894	2.215	0.80722	D	1	D;B	0.89917	1.0;0.004	D;B	0.85130	0.997;0.007	D	0.88220	0.2896	9	0.10377	T	0.69	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4278;4278	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	4278;4278;4128;613	ENSP00000298047:R4278Q;ENSP00000387040:R4278Q;ENSP00000432586:R4128Q;ENSP00000436399:R613Q	ENSP00000298047:R4278Q	R	+	2	0	FAT3	92256103	1.000000	0.71417	0.937000	0.37676	0.996000	0.88848	7.666000	0.83877	2.770000	0.95276	0.655000	0.94253	CGG	FAT3	-	NULL		0.662	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92616455	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	A	A	92616455	G	A	92616455	3	1	168	1	0	0	0	0	1	0	0	0	5709	1116	39	2	12923	2	FAT3	11	92616455	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	14786165	92616455	42390061	258	31975										
CUL5	8065	genome.wustl.edu	37	chr11	107965208	107965208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atttgaaccaagcttttaagGaaatgcacaaaaataataaa	5	5	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:107965208G>A	ENST00000393094.2	+	14	2150	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	512					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGCTTTTAAGGAAATGCACAA	0.274																																																	0													34	35	34					11																	107965208		2200	4287	6487	SO:0001583	missense	8065			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1534G>A	11.37:g.107965208G>A	ENSP00000376808:p.Glu512Lys		A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E512K	ENST00000393094.2	37	c.1534	CCDS31668.1	11	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699754	0.48307	.	.	ENSG00000166266	ENST00000393094	T	0.74106	-0.81	5.77	5.77	0.91146	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	L	0.39397	1.21	0.80722	D	1	B	0.16802	0.019	B	0.11329	0.006	T	0.61093	-0.7132	10	0.28530	T	0.3	-21.7589	20.3473	0.98799	0.0:0.0:1.0:0.0	.	512	Q93034	CUL5_HUMAN	K	512	ENSP00000376808:E512K	ENSP00000376808:E512K	E	+	1	0	CUL5	107470418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.386000	0.97228	2.884000	0.98904	0.655000	0.94253	GAA	CUL5	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.274	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	G			107965208	1	no_errors	ENST00000393094	ensembl	human	known	70_37	missense	SNP	1.000	A	A	107965208	G	A	107965208	3	1	168	1	0	0	0	0	1	0	0	0	4064	1175	41	1	1588	1	CUL5	11	107965208	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	15348753	107965208	27041308	259	31976										
SCN2B	6327	genome.wustl.edu	37	chr11	118038997	118038997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcaggttaatgatcttcatgCggaactggaggaactggggt	14	6	3	1	rs201460753		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:118038997C>T	ENST00000278947.5	-	3	492	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	84	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	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;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCTTCATGCGGAACTGGAG	0.557																																																	0								C	HIS/ARG	0,4400		0,0,2200	64	59	60		251	4.9	1	11		60	1,8591	1.2+/-3.3	0,1,4295	no	missense	SCN2B	NM_004588.4	29	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	84/216	118038997	1,12991	2200	4296	6496	SO:0001583	missense	6327			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.251G>A	11.37:g.118038997C>T	ENSP00000278947:p.Arg84His		O75302|Q9UNN3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0	p.R84H	ENST00000278947.5	37	c.251	CCDS8390.1	11	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425504	0.43020	0.0	1.16E-4	ENSG00000149575	ENST00000278947	T	0.65916	-0.18	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.480262	0.24388	N	0.038960	T	0.37237	0.0996	N	0.08118	0	0.37548	D	0.918576	B	0.30439	0.279	B	0.26094	0.066	T	0.40059	-0.9583	10	0.30078	T	0.28	-4.2859	8.7521	0.34622	0.0:0.8327:0.0:0.1673	.	84	O60939	SCN2B_HUMAN	H	84	ENSP00000278947:R84H	ENSP00000278947:R84H	R	-	2	0	SCN2B	117544207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.848000	0.48278	2.552000	0.86080	0.655000	0.94253	CGC	SCN2B	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.557	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN2B	HGNC	protein_coding	OTTHUMT00000109748.2	C	NM_004588		118038997	-1	no_errors	ENST00000278947	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118038997	C	T	118038997	3	4	168	1	0	0	0	0	1	0	0	0	13947	768	27	2	404	2	SCN2B	11	118038997	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	10073789	118038997	16967519	260	31977										
CBL	867	genome.wustl.edu	37	chr11	119149358	119149358	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagctccctccccaaattatGatgatgatgatgatgaacga	9	9	0	6			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:119149358G>A	ENST00000264033.4	+	9	1742	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	456	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCCAAATTATGATGATGATGA	0.473			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											99	99	99					11																	119149358		2199	4295	6494	SO:0001583	missense	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1366G>A	11.37:g.119149358G>A	ENSP00000264033:p.Asp456Asn		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.D456N	ENST00000264033.4	37	c.1366	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060965	0.76074	.	.	ENSG00000110395	ENST00000264033	T	0.78924	-1.22	5.96	5.96	0.96718	.	0.199269	0.50627	D	0.000105	T	0.81394	0.4813	M	0.73962	2.25	0.80722	D	1	P	0.52577	0.954	B	0.44044	0.439	T	0.82764	-0.0296	10	0.52906	T	0.07	-36.5049	20.422	0.99049	0.0:0.0:1.0:0.0	.	456	P22681	CBL_HUMAN	N	456	ENSP00000264033:D456N	ENSP00000264033:D456N	D	+	1	0	CBL	118654568	1.000000	0.71417	0.961000	0.40146	0.947000	0.59692	9.434000	0.97515	2.832000	0.97577	0.655000	0.94253	GAT	CBL	-	NULL		0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	G	NM_005188		119149358	1	no_errors	ENST00000264033	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119149358	G	A	119149358	3	1	168	1	0	0	0	0	1	0	0	0	2705	1290	45	1	1400	1	CBL	11	119149358	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1110361	119149358	15857158	261	31978										
PVRL1	5818	genome.wustl.edu	37	chr11	119549182	119549182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cgtagggaaggtagcaaactCgcagatgtagacaccctcat	11	10	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:119549182C>T	ENST00000264025.3	-	2	903	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PVRL1_ENST00000341398.2_Missense_Mutation_p.E125K|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.E125K	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	125	Ig-like V-type.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTAGCAAACTCGCAGATGTAG	0.607																																																	0													114	103	107					11																	119549182		2199	4295	6494	SO:0001583	missense	5818			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.373G>A	11.37:g.119549182C>T	ENSP00000264025:p.Glu125Lys		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E125K	ENST00000264025.3	37	c.373	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716549	0.68844	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.64803	-0.12;-0.12;-0.12	5.71	5.71	0.89125	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76328	0.3972	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.73655	-0.3914	9	.	.	.	.	18.8391	0.92174	0.0:1.0:0.0:0.0	.	125;125;125	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	K	125	ENSP00000344974:E125K;ENSP00000264025:E125K;ENSP00000345289:E125K	.	E	-	1	0	PVRL1	119054392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.709000	0.92574	0.561000	0.74099	GAG	PVRL1	-	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.607	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	C			119549182	-1	no_errors	ENST00000264025	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119549182	C	T	119549182	3	4	168	1	0	0	0	0	1	0	0	0	12869	893	31	1	1646	1	PVRL1	11	119549182	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	399824	119549182	15457334	262	31979										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120312487	120312487	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccggctcatttggctgttttCttacaccatgtagtttcaca	7	11	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:120312487C>G	ENST00000397843.2	+	14	1330	c.1164C>G	c.(1162-1164)ttC>ttG	p.F388L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F369L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F285L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	388	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGGCTGTTTTCTTACACCATG	0.388			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													166	150	155					11																	120312487		1835	4080	5915	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1164C>G	11.37:g.120312487C>G	ENSP00000380942:p.Phe388Leu		O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F369L	ENST00000397843.2	37	c.1107	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714777	0.48622	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.83419	-1.72;-1.72;-1.72	5.85	0.691	0.18045	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.47852	D	0.000211	T	0.80243	0.4587	L	0.42245	1.32	0.50813	D	0.999898	B;B;B	0.31581	0.172;0.282;0.329	B;B;B	0.42851	0.128;0.278;0.4	T	0.73550	-0.3947	10	0.46703	T	0.11	-10.8757	11.0479	0.47870	0.0:0.4339:0.0:0.5661	.	285;369;388	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	388;369;285	ENSP00000380942:F388L;ENSP00000349056:F369L;ENSP00000432984:F285L	ENSP00000349056:F369L	F	+	3	2	ARHGEF12	119817697	0.860000	0.29831	0.984000	0.44739	0.980000	0.70556	-0.010000	0.12743	-0.115000	0.11915	-0.259000	0.10710	TTC	ARHGEF12	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam		0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	C	NM_015313		120312487	1	no_errors	ENST00000356641	ensembl	human	known	70_37	missense	SNP	0.948	G	G	120312487	C	G	120312487	3	3	168	1	0	0	0	0	1	0	0	0	897	912	32	1	1218	1	ARHGEF12	11	120312487	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	763305	120312487	14694029	263	31980										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120318967	120318967	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	accatgcagtatgttattctCatgtatatgaagcatttggg	9	6	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:120318967C>G	ENST00000397843.2	+	20	1813	c.1647C>G	c.(1645-1647)ctC>ctG	p.L549L	ARHGEF12_ENST00000356641.3_Silent_p.L530L|ARHGEF12_ENST00000532993.1_Silent_p.L446L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	549	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATGTTATTCTCATGTATATGA	0.403			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													84	80	81					11																	120318967		1853	4101	5954	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1647C>G	11.37:g.120318967C>G			O15086|Q6P526	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L530	ENST00000397843.2	37	c.1590	CCDS41727.1	11																																																																																			ARHGEF12	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam		0.403	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	C	NM_015313		120318967	1	no_errors	ENST00000356641	ensembl	human	known	70_37	silent	SNP	0.997	G	G	120318967	C	G	120318967	2	3	168	1	0	0	0	0	0	0	0	1	897	813	29	1		1	ARHGEF12	11	120318967	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6480	120318967	14687549	264	31981										
ARHGEF12	23365	genome.wustl.edu	37	chr11	120348212	120348212	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agaggagcagcatggcatttCagtcactggtttgcagagtc	13	8	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr11:120348212C>A	ENST00000397843.2	+	36	3675	c.3509C>A	c.(3508-3510)tCa>tAa	p.S1170*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.S1151*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.S1067*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1170					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATGGCATTTCAGTCACTGGT	0.393			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													93	96	95					11																	120348212		1891	4124	6015	SO:0001587	stop_gained	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3509C>A	11.37:g.120348212C>A	ENSP00000380942:p.Ser1170*		O15086|Q6P526	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S1151*	ENST00000397843.2	37	c.3452	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	45	11.401410	0.99556	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.17	5.17	0.71159	.	0.182212	0.26788	N	0.022484	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.5193	17.2071	0.86921	0.0:1.0:0.0:0.0	.	.	.	.	X	1170;1151;1067	.	ENSP00000349056:S1151X	S	+	2	0	ARHGEF12	119853422	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.621000	0.61233	2.560000	0.86352	0.585000	0.79938	TCA	ARHGEF12	-	NULL		0.393	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	C	NM_015313		120348212	1	no_errors	ENST00000356641	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	120348212	C	A	120348212	4	1	168	1	0	0	0	0	0	1	0	0	897	838	29	3	3651	3	ARHGEF12	11	120348212	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	29245	120348212	14658304	265	31982										
TEAD4	7004	genome.wustl.edu	37	chr12	3120170	3120170	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggctgctggtgtctctgcagGtcggaacgagctgattgccc	15	11	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:3120170G>T	ENST00000359864.2	+	4	417	c.227G>T	c.(226-228)gGt>gTt	p.G76V	TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Splice_Site_p.G76V	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	76					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCTCTGCAGGTCGGAACGAG	0.637																																																	0													68	66	67					12																	3120170		2203	4300	6503	SO:0001630	splice_region_variant	7004			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.227-1G>T	12.37:g.3120170G>T			H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.G76V	ENST00000359864.2	37	c.227	CCDS31729.1	12	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880182	0.72294	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.74315	-0.83;-0.83;-0.83	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89705	0.6792	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92397	0.5926	9	.	.	.	.	15.3222	0.74132	0.0:0.0:1.0:0.0	.	76	Q15561	TEAD4_HUMAN	V	76	ENSP00000351184:G76V;ENSP00000352926:G76V;ENSP00000444528:G76V	.	G	+	2	0	TEAD4	2990431	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	7.666000	0.83877	2.474000	0.83562	0.561000	0.74099	GGT	TEAD4	-	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS		0.637	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398475.1	G	NM_003213	Missense_Mutation	3120170	1	no_errors	ENST00000359864	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3120170	G	T	3120170	5	4	168	1	0	0	0	0	0	0	1	0	15771	1275	44	4	233	4	TEAD4	12	3120170	Splice_Site	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		3120170	130731725	266	31983										
C12orf5	57103	genome.wustl.edu	37	chr12	4459046	4459046	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tatgacggtaaagtatgactCaagacttcgggaaagggtga	13	5	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:4459046C>G	ENST00000179259.4	+	4	321	c.254C>G	c.(253-255)tCa>tGa	p.S85*	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	85					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AAGTATGACTCAAGACTTCGG	0.338																																					Colon(1;100 192 35375 49454 52532)												0													93	96	95					12																	4459046		2203	4300	6503	SO:0001587	stop_gained	57103			AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"TP53-induced glycolysis and apoptosis regulator"	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.254C>G	12.37:g.4459046C>G	ENSP00000179259:p.Ser85*		B2R840	Nonsense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1	p.S85*	ENST00000179259.4	37	c.254	CCDS8525.1	12	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822726	0.50739	.	.	ENSG00000078237	ENST00000179259	.	.	.	4.58	2.61	0.31194	.	0.456144	0.22721	N	0.056445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-14.2323	9.3455	0.38107	0.0:0.676:0.2445:0.0795	.	.	.	.	X	85	.	ENSP00000179259:S85X	S	+	2	0	C12orf5	4329307	0.975000	0.34042	0.985000	0.45067	0.396000	0.30629	1.266000	0.33039	1.286000	0.44565	-0.140000	0.14226	TCA	C12orf5	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1		0.338	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf5	HGNC	protein_coding	OTTHUMT00000398290.1	C	NM_020375		4459046	1	no_errors	ENST00000179259	ensembl	human	known	70_37	nonsense	SNP	0.325	G	G	4459046	C	G	4459046	4	3	168	1	0	0	0	0	0	1	0	0	1698	838	29	1	268	1	C12orf5	12	4459046	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1338876	4459046	129392849	267	31984										
ART4	420	genome.wustl.edu	37	chr12	14993509	14993509	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gggatcaagacttccttcttGagggagaagtactgtacagg	13	7	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:14993509G>C	ENST00000228936.4	-	2	1104	c.723C>G	c.(721-723)ctC>ctG	p.L241L	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	241					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CTTCCTTCTTGAGGGAGAAGT	0.478																																																	0													103	102	102					12																	14993509		2203	4300	6503	SO:0001819	synonymous_variant	420			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.723C>G	12.37:g.14993509G>C			Q9BZ50|Q9BZ51|Q9HB06	Silent	SNP	pfam_ART,prints_ART	p.L241	ENST00000228936.4	37	c.723	CCDS8668.1	12																																																																																			ART4	-	pfam_ART		0.478	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART4	HGNC	protein_coding	OTTHUMT00000400859.1	G	NM_021071		14993509	-1	no_errors	ENST00000228936	ensembl	human	known	70_37	silent	SNP	1.000	C	C	14993509	G	C	14993509	2	2	168	1	0	0	0	0	0	0	0	1	1000	1277	45	1		1	ART4	12	14993509	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	10534463	14993509	118858386	268	31985										
ART4	420	genome.wustl.edu	37	chr12	14995906	14995906	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cctcaattgtccccctacctCagaaccctctgtgggtctct	6	17	4	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:14995906C>T	ENST00000228936.4	-	1	523	c.142G>A	c.(142-144)Gag>Aag	p.E48K	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	48				E -> Q (in Ref. 5; CAA65095). {ECO:0000305}.	arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CCCCCTACCTCAGAACCCTCT	0.537																																																	0													50	49	49					12																	14995906		2203	4300	6503	SO:0001583	missense	420			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.142G>A	12.37:g.14995906C>T	ENSP00000228936:p.Glu48Lys		Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	pfam_ART,prints_ART	p.E48K	ENST00000228936.4	37	c.142	CCDS8668.1	12	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016732	0.35606	.	.	ENSG00000111339	ENST00000228936;ENST00000430826;ENST00000544616;ENST00000430129;ENST00000420600	T;T	0.08282	3.24;3.11	4.3	0.354	0.16063	.	1.094010	0.06902	N	0.806178	T	0.05410	0.0143	N	0.19112	0.55	0.20703	N	0.999865	B;B	0.21071	0.051;0.051	B;B	0.14023	0.01;0.01	T	0.44436	-0.9328	10	0.30078	T	0.28	-12.7311	5.1968	0.15243	0.0:0.4208:0.3787:0.2006	.	48;48	A8K6J7;Q93070	.;NAR4_HUMAN	K	48;48;31;31;31	ENSP00000228936:E48K;ENSP00000405689:E31K	ENSP00000228936:E48K	E	-	1	0	ART4	14887173	0.035000	0.19736	0.209000	0.23619	0.019000	0.09904	-0.185000	0.09684	0.057000	0.16193	0.650000	0.86243	GAG	ART4	-	NULL		0.537	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART4	HGNC	protein_coding	OTTHUMT00000400859.1	C	NM_021071		14995906	-1	no_errors	ENST00000228936	ensembl	human	known	70_37	missense	SNP	0.239	T	T	14995906	C	T	14995906	3	4	168	1	0	0	0	0	1	0	0	0	1000	835	29	1	814	1	ART4	12	14995906	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2397	14995906	118855989	269	31986										
ETNK1	55500	genome.wustl.edu	37	chr12	22811985	22811985	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttgctaaaatccatgctattCatgcacacaatggctggatc	7	10	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:22811985C>T	ENST00000266517.4	+	3	810	c.721C>T	c.(721-723)Cat>Tat	p.H241Y		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	241					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCATGCTATTCATGCACACAA	0.373																																					Esophageal Squamous(42;87 913 3224 6226 43339)												0													102	97	99					12																	22811985		2203	4300	6503	SO:0001583	missense	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.721C>T	12.37:g.22811985C>T	ENSP00000266517:p.His241Tyr		G5E969	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.H241Y	ENST00000266517.4	37	c.721	CCDS8698.1	12	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543391	0.65198	.	.	ENSG00000139163	ENST00000266517;ENST00000381409	T	0.57595	0.39	5.23	5.23	0.72850	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	M	0.62016	1.91	0.80722	D	1	D;P	0.65815	0.995;0.467	D;B	0.64506	0.926;0.356	T	0.70985	-0.4723	10	0.59425	D	0.04	-19.8375	16.9739	0.86308	0.0:1.0:0.0:0.0	.	241;241	E9PD44;Q9HBU6	.;EKI1_HUMAN	Y	241	ENSP00000266517:H241Y	ENSP00000266517:H241Y	H	+	1	0	ETNK1	22703252	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.114000	0.77103	2.455000	0.83008	0.484000	0.47621	CAT	ETNK1	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.373	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK1	HGNC	protein_coding	OTTHUMT00000401926.2	C	NM_018638		22811985	1	no_errors	ENST00000266517	ensembl	human	known	70_37	missense	SNP	1.000	T	T	22811985	C	T	22811985	3	4	168	1	0	0	0	0	1	0	0	0	5285	826	29	1	829	1	ETNK1	12	22811985	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	7816079	22811985	111039910	270	31987										
LMBR1L	55716	genome.wustl.edu	37	chr12	49498592	49498592	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggcagggagagcagcacctCattgctgatgatggagaagg	16	7	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:49498592C>T	ENST00000267102.8	-	4	610	c.268G>A	c.(268-270)Gag>Aag	p.E90K	LMBR1L_ENST00000395141.4_Missense_Mutation_p.E85K|LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Missense_Mutation_p.E90K	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	90					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCAGCACCTCATTGCTGATG	0.592																																																	0													127	90	103					12																	49498592		2203	4300	6503	SO:0001583	missense	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"limb region 1 homolog (mouse)-like"			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.268G>A	12.37:g.49498592C>T	ENSP00000267102:p.Glu90Lys		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.E90K	ENST00000267102.8	37	c.268	CCDS8780.2	12	.	.	.	.	.	.	.	.	.	.	C	36	5.804786	0.96967	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141;ENST00000547675;ENST00000551854;ENST00000551782	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	6.07	6.07	0.98685	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	M	0.82517	2.595	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.998	D;D;D	0.81914	0.987;0.995;0.994	T	0.71984	-0.4427	10	0.87932	D	0	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	90;90;85	Q6UX01-3;Q6UX01;Q6UX01-4	.;LMBRL_HUMAN;.	K	90;90;85;90;95;90	ENSP00000267102:E90K;ENSP00000447329:E90K;ENSP00000378573:E85K;ENSP00000447240:E90K;ENSP00000446641:E95K;ENSP00000449633:E90K	ENSP00000267102:E90K	E	-	1	0	LMBR1L	47784859	1.000000	0.71417	0.991000	0.47740	0.890000	0.51754	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GAG	LMBR1L	-	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt		0.592	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	C	NM_018113		49498592	-1	no_errors	ENST00000267102	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49498592	C	T	49498592	3	4	168	1	0	0	0	0	1	0	0	0	8862	835	29	1	1257	1	LMBR1L	12	49498592	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	26686607	49498592	84353303	271	31988										
DIP2B	57609	genome.wustl.edu	37	chr12	51133261	51133261	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atagcgagactcttcaagctGatcatttcaacactcgcctc	6	13	4	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:51133261G>A	ENST00000301180.5	+	36	4280	c.4246G>A	c.(4246-4248)Gat>Aat	p.D1416N		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1416						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTTCAAGCTGATCATTTCAA	0.517																																																	0													139	113	122					12																	51133261		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4246G>A	12.37:g.51133261G>A	ENSP00000301180:p.Asp1416Asn		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.D1416N	ENST00000301180.5	37	c.4246	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039661	0.75732	.	.	ENSG00000066084	ENST00000301180	T	0.10860	2.83	5.21	5.21	0.72293	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	M	0.66297	2.02	0.80722	D	1	B	0.31581	0.329	B	0.37387	0.248	T	0.01456	-1.1350	10	0.54805	T	0.06	-17.7365	18.5419	0.91031	0.0:0.0:1.0:0.0	.	1416	Q9P265	DIP2B_HUMAN	N	1416	ENSP00000301180:D1416N	ENSP00000301180:D1416N	D	+	1	0	DIP2B	49419528	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.753000	0.85153	2.716000	0.92895	0.491000	0.48974	GAT	DIP2B	-	pfam_AMP-dep_Synth/Lig		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	G	NM_173602		51133261	1	no_errors	ENST00000301180	ensembl	human	known	70_37	missense	SNP	0.999	A	A	51133261	G	A	51133261	3	1	168	1	0	0	0	0	1	0	0	0	4538	1290	45	1	4388	1	DIP2B	12	51133261	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1634669	51133261	82718634	272	31989										
PRR13	54458	genome.wustl.edu	37	chr12	53839824	53839824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcctcttcctcctcctcttCcagcagtgattctgactgaa	5	16	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:53839824C>T	ENST00000429243.2	+	4	636	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRR13_ENST00000379786.4_Missense_Mutation_p.S93F|PRR13_ENST00000547368.1_Missense_Mutation_p.S157F|RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000549924.1_Missense_Mutation_p.S143F|PRR13_ENST00000549581.1_Missense_Mutation_p.S93F|PRR13_ENST00000551003.1_Missense_Mutation_p.S111F|PRR13_ENST00000549135.1_Missense_Mutation_p.S143F|PCBP2_ENST00000541275.1_Intron|PRR13_ENST00000546581.1_Missense_Mutation_p.S47F|PRR13_ENST00000549068.1_3'UTR	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	143	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						TCCTCCTCTTCCAGCAGTGAT	0.517																																																	0													305	288	294					12																	53839824		2203	4300	6503	SO:0001583	missense	54458			AF217517	CCDS31811.1, CCDS44899.1	12q13.13	2014-05-28			ENSG00000205352	ENSG00000205352			24528	protein-coding gene	gene with protein product		610459				11230166	Standard	NM_018457		Approved	FLJ23818, DKFZP564J157	uc001scz.4	Q9NZ81	OTTHUMG00000170049	ENST00000429243.2:c.428C>T	12.37:g.53839824C>T	ENSP00000412064:p.Ser143Phe		Q0V8U0|Q6FIG7|Q6MZP8|Q6NXQ6|Q6PKF9	Missense_Mutation	SNP	NULL	p.S143F	ENST00000429243.2	37	c.428	CCDS44899.1	12	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191690	0.38707	.	.	ENSG00000205352	ENST00000429243;ENST00000549924;ENST00000551003;ENST00000546581;ENST00000549581;ENST00000547368;ENST00000379786;ENST00000549135	.	.	.	4.46	4.46	0.54185	.	0.000000	0.35677	N	0.003060	T	0.78400	0.4277	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.80148	-0.1503	9	0.54805	T	0.06	-12.6711	12.8534	0.57871	0.0:1.0:0.0:0.0	.	143;93	Q9NZ81;Q9NZ81-2	PRR13_HUMAN;.	F	143;143;111;47;93;157;93;143	.	ENSP00000369112:S93F	S	+	2	0	PRR13	52126091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.380000	0.44327	2.484000	0.83849	0.655000	0.94253	TCC	PRR13	-	NULL		0.517	PRR13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRR13	HGNC	protein_coding	OTTHUMT00000407055.1	C	NM_018457		53839824	1	no_errors	ENST00000429243	ensembl	human	known	70_37	missense	SNP	1.000	T	T	53839824	C	T	53839824	3	4	168	1	0	0	0	0	1	0	0	0	12612	855	30	1	438	1	PRR13	12	53839824	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2706563	53839824	80012071	273	31990										
GLS2	27165	genome.wustl.edu	37	chr12	56872959	56872959	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggagcacaatgttgctgctCacacacctggatcccagaca	9	13	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:56872959C>G	ENST00000311966.4	-	4	689	c.411G>C	c.(409-411)gtG>gtC	p.V137V	GLS2_ENST00000539272.1_Intron|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	137					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TGTTGCTGCTCACACACCTGG	0.502																																																	0													70	61	64					12																	56872959		2203	4300	6503	SO:0001819	synonymous_variant	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.411G>C	12.37:g.56872959C>G			B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.V137	ENST00000311966.4	37	c.411	CCDS8921.1	12																																																																																			GLS2	-	NULL		0.502	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	HGNC	protein_coding	OTTHUMT00000277113.1	C	NM_013267		56872959	-1	no_errors	ENST00000311966	ensembl	human	known	70_37	silent	SNP	1.000	G	G	56872959	C	G	56872959	2	3	168	1	0	0	0	0	0	0	0	1	6483	813	29	1		1	GLS2	12	56872959	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3033135	56872959	76978936	274	31991										
GLIPR1L1	256710	genome.wustl.edu	37	chr12	75756946	75756946	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gctctctctgctcaaaagaaGagaaatgtgtaaagaacctc	8	9	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:75756946G>A	ENST00000378695.4	+	4	676	c.586G>A	c.(586-588)Gag>Aag	p.E196K	GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.E196K|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	196					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CTCAAAAGAAGAGAAATGTGT	0.299																																																	0													43	42	42					12																	75756946		2202	4297	6499	SO:0001583	missense	256710			BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.586G>A	12.37:g.75756946G>A	ENSP00000367967:p.Glu196Lys		Q96L06	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.E196K	ENST00000378695.4	37	c.586		12	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150059	0.21371	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.08008	3.15;3.14	3.56	2.63	0.31362	.	0.404227	0.23437	N	0.048199	T	0.06554	0.0168	N	0.22421	0.69	0.09310	N	1	B;P	0.37663	0.035;0.604	B;B	0.40066	0.045;0.318	T	0.30149	-0.9988	10	0.38643	T	0.18	.	8.8119	0.34971	0.0:0.2311:0.7689:0.0	.	196;196	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	K	196	ENSP00000367967:E196K;ENSP00000310770:E196K	ENSP00000310770:E196K	E	+	1	0	GLIPR1L1	74043213	0.021000	0.18746	0.005000	0.12908	0.042000	0.13812	1.832000	0.39151	1.046000	0.40249	0.655000	0.94253	GAG	GLIPR1L1	-	NULL		0.299	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	HGNC	protein_coding	OTTHUMT00000405714.1	G	NM_152779		75756946	1	no_errors	ENST00000378695	ensembl	human	known	70_37	missense	SNP	0.005	A	A	75756946	G	A	75756946	3	1	168	1	0	0	0	0	1	0	0	0	6461	943	33	1	600	1	GLIPR1L1	12	75756946	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	18883987	75756946	58094949	275	31992										
HAL	3034	genome.wustl.edu	37	chr12	96374348	96374348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccttaccaagggctgctgccGtgcagtgagctatcatgaac	11	12	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:96374348G>A	ENST00000261208.3	-	17	1873	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	HAL_ENST00000541929.1_Missense_Mutation_p.T294M|HAL_ENST00000538703.1_Missense_Mutation_p.T502M	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	502					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGCTGCTGCCGTGCAGTGAGC	0.542																																					NSCLC(169;943 2815 23563 30031)												0													102	84	90					12																	96374348		2203	4300	6503	SO:0001583	missense	3034				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1505C>T	12.37:g.96374348G>A	ENSP00000261208:p.Thr502Met		B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.T502M	ENST00000261208.3	37	c.1505	CCDS9058.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842756	0.91197	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	T;T;T	0.79247	-1.25;-1.25;-1.25	5.66	5.66	0.87406	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.91685	0.5361	10	0.87932	D	0	-17.4176	19.7324	0.96188	0.0:0.0:1.0:0.0	.	502;502	F5GXF2;P42357	.;HUTH_HUMAN	M	502;294;502	ENSP00000261208:T502M;ENSP00000446364:T294M;ENSP00000440861:T502M	ENSP00000261208:T502M	T	-	2	0	HAL	94898479	1.000000	0.71417	0.974000	0.42286	0.917000	0.54804	9.476000	0.97823	2.663000	0.90544	0.655000	0.94253	ACG	HAL	-	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH		0.542	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	G			96374348	-1	no_errors	ENST00000261208	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96374348	G	A	96374348	3	1	168	1	0	0	0	0	1	0	0	0	6967	1145	40	2	488	2	HAL	12	96374348	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	20617402	96374348	37477547	276	31993										
GAS2L3	283431	genome.wustl.edu	37	chr12	101017746	101017746	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcatcccaagctcaagtcttCaaaaggcataacgaagaaac	6	11	4	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:101017746C>G	ENST00000539410.1	+	9	1549	c.1163C>G	c.(1162-1164)tCa>tGa	p.S388*	GAS2L3_ENST00000266754.5_Nonsense_Mutation_p.S388*|GAS2L3_ENST00000537247.1_Nonsense_Mutation_p.S284*|GAS2L3_ENST00000547754.1_Nonsense_Mutation_p.S388*			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	388					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCAAGTCTTCAAAAGGCATA	0.428																																																	0													95	96	96					12																	101017746		2203	4300	6503	SO:0001587	stop_gained	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1163C>G	12.37:g.101017746C>G	ENSP00000439672:p.Ser388*		B2RCN2	Nonsense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S388*	ENST00000539410.1	37	c.1163	CCDS9079.1	12	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126505	0.37533	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	.	.	.	5.8	2.89	0.33648	.	0.710683	0.13250	N	0.402124	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-8.7975	0.6565	0.00835	0.1855:0.373:0.1807:0.2609	.	.	.	.	X	388;388;284;388	.	ENSP00000266754:S388X	S	+	2	0	GAS2L3	99541877	0.026000	0.19158	0.359000	0.25824	0.042000	0.13812	0.096000	0.15147	0.738000	0.32606	0.650000	0.86243	TCA	GAS2L3	-	NULL		0.428	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	C	NM_174942		101017746	1	no_errors	ENST00000266754	ensembl	human	known	70_37	nonsense	SNP	0.026	G	G	101017746	C	G	101017746	4	3	168	1	0	0	0	0	0	1	0	0	6267	838	29	1	1193	1	GAS2L3	12	101017746	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	4643398	101017746	32834149	277	31994										
RPH3A	22895	genome.wustl.edu	37	chr12	113285528	113285528	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcaggctggtccgtccacccCggtggtcagcctgacaggca	14	15	1	1	rs142344302	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:113285528C>A	ENST00000389385.4	+	5	608	c.111C>A	c.(109-111)ccC>ccA	p.P37P	RPH3A_ENST00000551052.1_Silent_p.P33P|RPH3A_ENST00000415485.3_Silent_p.P37P|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000420983.2_Silent_p.P37P|RPH3A_ENST00000543106.2_Silent_p.P37P	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	37					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGTCCACCCCGGTGGTCAGC	0.522																																																	0													67	64	65					12																	113285528		2203	4300	6503	SO:0001819	synonymous_variant	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.111C>A	12.37:g.113285528C>A			B7Z3C3|Q96AE0	Silent	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.P37	ENST00000389385.4	37	c.111	CCDS44979.1	12																																																																																			RPH3A	-	pfam_Rabphilin3A_effector_Zn-bd		0.522	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	C	NM_014954		113285528	1	no_errors	ENST00000389385	ensembl	human	known	70_37	silent	SNP	0.018	A	A	113285528	C	A	113285528	2	1	168	1	0	0	0	0	0	0	0	1	13581	639	23	2		2	RPH3A	12	113285528	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	12267782	113285528	20566367	278	31995										
MLEC	9761	genome.wustl.edu	37	chr12	121125268	121125268	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gggcggtcaacgcgggtggaGaggcgcatgtggacgtgcac	20	9	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:121125268G>C	ENST00000228506.3	+	1	597	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	MLEC_ENST00000412616.2_Missense_Mutation_p.E57Q	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	57					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CGCGGGTGGAGAGGCGCATGT	0.751																																																	0													21	26	24					12																	121125268		2203	4298	6501	SO:0001583	missense	9761			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.169G>C	12.37:g.121125268G>C	ENSP00000228506:p.Glu57Gln			Missense_Mutation	SNP	pfam_Malectin	p.E57Q	ENST00000228506.3	37	c.169	CCDS9206.1	12	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562865	0.86335	.	.	ENSG00000110917	ENST00000228506;ENST00000412616	.	.	.	5.02	5.02	0.67125	Malectin (1);	0.102221	0.64402	D	0.000003	T	0.59142	0.2172	L	0.50333	1.59	0.58432	D	0.999998	B	0.28512	0.214	B	0.29077	0.098	T	0.55749	-0.8092	9	0.32370	T	0.25	.	18.4863	0.90830	0.0:0.0:1.0:0.0	.	57	Q14165	MLEC_HUMAN	Q	57	.	ENSP00000228506:E57Q	E	+	1	0	MLEC	119609651	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.565000	0.90730	2.780000	0.95670	0.561000	0.74099	GAG	MLEC	-	pfam_Malectin		0.751	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLEC	HGNC	protein_coding	OTTHUMT00000402781.2	G	NM_014730		121125268	1	no_errors	ENST00000228506	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121125268	G	C	121125268	3	2	168	1	0	0	0	0	1	0	0	0	9636	943	33	1	171	1	MLEC	12	121125268	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7839740	121125268	12726627	279	31996										
ZNF605	100289635	genome.wustl.edu	37	chr12	133502070	133502070	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtatgaatcctctgatgcctCataaggtgtgactttcttgt	9	8	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr12:133502070C>T	ENST00000360187.4	-	5	2163	c.1815G>A	c.(1813-1815)atG>atA	p.M605I	ZNF605_ENST00000392321.3_Missense_Mutation_p.M636I|ZNF605_ENST00000331711.7_5'Flank	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TCTGATGCCTCATAAGGTGTG	0.408																																																	0													122	113	116					12																	133502070		2203	4300	6503	SO:0001583	missense	100289635			AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"Zinc fingers, C2H2-type", "-"	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1815G>A	12.37:g.133502070C>T	ENSP00000353314:p.Met605Ile		B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M605I	ENST00000360187.4	37	c.1815	CCDS31938.1	12	.	.	.	.	.	.	.	.	.	.	C	1.927	-0.447010	0.04572	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.50277	0.75;0.75	3.72	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14874	0.0359	N	0.01631	-0.79	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.11329	0.006;0.001	T	0.31888	-0.9927	9	0.07644	T	0.81	.	2.9594	0.05887	0.4175:0.3876:0.0:0.1948	.	636;605	B3KVG4;Q86T29	.;ZN605_HUMAN	I	605;636	ENSP00000353314:M605I;ENSP00000376135:M636I	ENSP00000353314:M605I	M	-	3	0	ZNF605	132012143	0.000000	0.05858	0.990000	0.47175	0.985000	0.73830	-3.338000	0.00506	0.894000	0.36317	0.462000	0.41574	ATG	ZNF605	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF605	HGNC	protein_coding	OTTHUMT00000397135.2	C	NM_183238		133502070	-1	no_errors	ENST00000360187	ensembl	human	known	70_37	missense	SNP	0.002	T	T	133502070	C	T	133502070	3	4	168	1	0	0	0	0	1	0	0	0	18061	826	29	1	114	1	ZNF605	12	133502070	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	12376802	133502070	349825	280	31997										
ZMYM2	7750	genome.wustl.edu	37	chr13	20567387	20567387	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cgtcagtggaagatgatgatGatgttgtttttatcgaacct	11	5	1	4	rs375763195		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:20567387G>A	ENST00000382874.2	+	4	365	c.175G>A	c.(175-177)Gat>Aat	p.D59N	ZMYM2_ENST00000382881.3_Missense_Mutation_p.D59N|ZMYM2_ENST00000382869.3_Missense_Mutation_p.D59N|ZMYM2_ENST00000382871.2_Missense_Mutation_p.D59N	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGATGATGATGATGTTGTTTT	0.383																																																	0													114	105	108					13																	20567387		1966	4175	6141	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.175G>A	13.37:g.20567387G>A	ENSP00000372327:p.Asp59Asn		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.D59N	ENST00000382874.2	37	c.175	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551837	0.86127	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.16	5.16	0.70880	.	0.000000	0.56097	D	0.000025	T	0.52354	0.1729	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.91635	0.995;0.995;0.999	T	0.43212	-0.9405	10	0.37606	T	0.19	2.6954	19.0049	0.92846	0.0:0.0:1.0:0.0	.	59;59;59	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	N	59	ENSP00000372322:D59N;ENSP00000372334:D59N;ENSP00000372327:D59N;ENSP00000372324:D59N	ENSP00000372322:D59N	D	+	1	0	ZMYM2	19465387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.559000	0.86315	0.655000	0.94253	GAT	ZMYM2	-	NULL		0.383	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	G	NM_003453		20567387	1	no_errors	ENST00000382869	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20567387	G	A	20567387	3	1	168	1	0	0	0	0	1	0	0	0	17730	1290	45	1	177	1	ZMYM2	13	20567387	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		20567387	94602491	281	31998										
PDS5B	23047	genome.wustl.edu	37	chr13	33232590	33232590	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaacattgcttgggtcaagtCatataacatatgctttgagt	9	6	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:33232590C>T	ENST00000315596.10	+	5	605	c.419C>T	c.(418-420)tCa>tTa	p.S140L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	140					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TGGGTCAAGTCATATAACATA	0.244																																																	0													38	35	36					13																	33232590		1791	4048	5839	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.419C>T	13.37:g.33232590C>T	ENSP00000313851:p.Ser140Leu		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S140L	ENST00000315596.10	37	c.419	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.229692	0.95173	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.77313	2.365	0.80722	D	1	D;P	0.56521	0.976;0.906	P;P	0.60541	0.876;0.641	T	0.75476	-0.3304	9	0.33141	T	0.24	-16.381	19.8199	0.96589	0.0:1.0:0.0:0.0	.	140;140	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	L	140	.	ENSP00000313851:S140L	S	+	2	0	PDS5B	32130590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.688000	0.84153	2.677000	0.91161	0.655000	0.94253	TCA	PDS5B	-	superfamily_ARM-type_fold		0.244	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	C	NM_015032		33232590	1	no_errors	ENST00000315596	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33232590	C	T	33232590	3	4	168	1	0	0	0	0	1	0	0	0	11716	838	29	1	433	1	PDS5B	13	33232590	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	12665203	33232590	81937288	282	31999										
TRPC4	7223	genome.wustl.edu	37	chr13	38266158	38266158	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggacccacggtaatatcatCcactcgacgatggttggtgg	12	10	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:38266158C>T	ENST00000379705.3	-	4	2069	c.1212G>A	c.(1210-1212)tgG>tgA	p.W404*	TRPC4_ENST00000426868.2_Nonsense_Mutation_p.W404*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.W404*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.W404*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.W404*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.W231*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.W231*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.W404*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.W404*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	404					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTAATATCATCCACTCGACGA	0.423																																																	0													89	81	84					13																	38266158		2203	4300	6503	SO:0001587	stop_gained	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1212G>A	13.37:g.38266158C>T	ENSP00000369027:p.Trp404*		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.W404*	ENST00000379705.3	37	c.1212	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	C	40	8.478450	0.98829	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.674	20.1931	0.98233	0.0:1.0:0.0:0.0	.	.	.	.	X	404;404;231;231;404;404;404;404;404	.	ENSP00000342580:W231X	W	-	3	0	TRPC4	37164158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.771000	0.95319	0.563000	0.77884	TGG	TRPC4	-	tigrfam_TRP_channel		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	C	NM_003306		38266158	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	38266158	C	T	38266158	4	4	168	1	0	0	0	0	0	1	0	0	16611	856	30	1	1768	1	TRPC4	13	38266158	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	5033568	38266158	76903720	283	32000										
INTS6	26512	genome.wustl.edu	37	chr13	51961658	51961658	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gctgagatccaaaaggccttGatatatctggctgcccatct	9	11	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:51961658G>A	ENST00000311234.4	-	7	1230	c.758C>T	c.(757-759)tCa>tTa	p.S253L	INTS6_ENST00000497989.1_Missense_Mutation_p.S75L|INTS6_ENST00000490542.1_5'Flank|INTS6_ENST00000463928.1_Missense_Mutation_p.S253L|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.S240L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	253					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AAAAGGCCTTGATATATCTGG	0.373																																																	0													59	56	57					13																	51961658		2203	4300	6503	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.758C>T	13.37:g.51961658G>A	ENSP00000310260:p.Ser253Leu		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.S253L	ENST00000311234.4	37	c.758	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881032	0.33255	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	.	.	.	4.81	3.95	0.45737	.	0.857527	0.10555	N	0.660960	T	0.39784	0.1091	N	0.16307	0.4	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16453	-1.0402	9	0.33940	T	0.23	-3.2548	7.5433	0.27751	0.0837:0.0:0.7499:0.1663	.	253	Q9UL03	INT6_HUMAN	L	253;240;75	.	ENSP00000310260:S253L	S	-	2	0	INTS6	50859659	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.251000	0.43187	1.118000	0.41863	0.561000	0.74099	TCA	INTS6	-	NULL		0.373	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	G	NM_012141		51961658	-1	no_errors	ENST00000311234	ensembl	human	known	70_37	missense	SNP	0.990	A	A	51961658	G	A	51961658	3	1	168	1	0	0	0	0	1	0	0	0	7802	1294	45	1	1953	1	INTS6	13	51961658	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	13695500	51961658	63208220	284	32001										
DZIP1	22873	genome.wustl.edu	37	chr13	96234549	96234549	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agctgctttttaatgtgcttGattcattttcttgaagtcct	7	7	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr13:96234549G>C	ENST00000376829.2	-	23	3394	c.2543C>G	c.(2542-2544)tCa>tGa	p.S848*	DZIP1_ENST00000347108.3_Nonsense_Mutation_p.S848*|DZIP1_ENST00000361156.3_Nonsense_Mutation_p.S829*|DZIP1_ENST00000361396.2_Nonsense_Mutation_p.S829*	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	848					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TAATGTGCTTGATTCATTTTC	0.388																																																	0													210	176	187					13																	96234549		2203	4300	6503	SO:0001587	stop_gained	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2543C>G	13.37:g.96234549G>C	ENSP00000366025:p.Ser848*		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S848*	ENST00000376829.2	37	c.2543	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	G	45	11.497323	0.99568	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	.	.	.	5.24	0.55	0.17219	.	1.131390	0.06536	N	0.742310	.	.	.	.	.	.	0.40897	D	0.984122	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	0.1739	7.9917	0.30244	0.4042:0.0:0.5958:0.0	.	.	.	.	X	848;829;829;848	.	ENSP00000257312:S848X	S	-	2	0	DZIP1	95032550	0.005000	0.15991	0.000000	0.03702	0.783000	0.44284	0.773000	0.26661	0.059000	0.16252	-0.218000	0.12543	TCA	DZIP1	-	NULL		0.388	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	G	NM_014934		96234549	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	96234549	G	C	96234549	4	2	168	1	0	0	0	0	0	1	0	0	4873	1294	45	1	64	1	DZIP1	13	96234549	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	44272891	96234549	18935329	285	32002										
OR4E2	26686	genome.wustl.edu	37	chr14	22134061	22134061	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcttctttgggccatgtatCttcatctatactcggccaga	7	12	5	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:22134061C>G	ENST00000408935.1	+	1	765	c.765C>G	c.(763-765)atC>atG	p.I255M		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGCCATGTATCTTCATCTATA	0.512																																																	0													83	81	82					14																	22134061		1951	4141	6092	SO:0001583	missense	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.765C>G	14.37:g.22134061C>G	ENSP00000386195:p.Ile255Met		Q6IET6|Q96R62	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I255M	ENST00000408935.1	37	c.765	CCDS41916.1	14	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120265	0.56613	.	.	ENSG00000221977	ENST00000408935	T	0.40756	1.02	5.68	0.0436	0.14222	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	U	0.001645	T	0.42810	0.1219	L	0.47078	1.49	0.30082	N	0.809096	D	0.56287	0.975	P	0.57620	0.824	T	0.40831	-0.9542	10	0.72032	D	0.01	.	3.7183	0.08446	0.172:0.3607:0.0:0.4673	.	255	Q8NGC2	OR4E2_HUMAN	M	255	ENSP00000386195:I255M	ENSP00000386195:I255M	I	+	3	3	OR4E2	21203901	0.000000	0.05858	0.995000	0.50966	0.986000	0.74619	-0.824000	0.04438	0.127000	0.18452	0.655000	0.94253	ATC	OR4E2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	C			22134061	1	no_errors	ENST00000408935	ensembl	human	known	70_37	missense	SNP	0.987	G	G	22134061	C	G	22134061	3	3	168	1	0	0	0	0	1	0	0	0	11084	903	32	1	767	1	OR4E2	14	22134061	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09		22134061	85215479	286	32003										
IPO4	79711	genome.wustl.edu	37	chr14	24652265	24652265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtgagggtcccacagctgcGgagcacccctgtcagggcct	14	14	1	1	rs201767926		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:24652265G>A	ENST00000354464.6	-	23	2514	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	780					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCACAGCTGCGGAGCACCCCT	0.672																																																	0								G	CYS/ARG	0,4208		0,0,2104	46	54	51		2338	5.9	1	14		51	1,8471		0,1,4235	yes	missense	IPO4	NM_024658.3	180	0,1,6339	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	780/1082	24652265	1,12679	2104	4236	6340	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2338C>T	14.37:g.24652265G>A	ENSP00000346453:p.Arg780Cys		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.R780C	ENST00000354464.6	37	c.2338	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930320	0.73327	0.0	1.18E-4	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.68025	-0.3	5.89	5.89	0.94794	Armadillo-like helical (1);Armadillo-type fold (2);	0.137387	0.49305	D	0.000157	T	0.75228	0.3821	L	0.46157	1.445	0.51767	D	0.999935	D;D	0.89917	0.999;1.0	D;D	0.69142	0.917;0.962	T	0.76501	-0.2936	10	0.87932	D	0	-13.909	12.7028	0.57043	0.0:0.0:0.8357:0.1643	.	780;780	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	C	780;456	ENSP00000346453:R780C	ENSP00000346453:R780C	R	-	1	0	IPO4	23722105	0.886000	0.30341	1.000000	0.80357	0.760000	0.43138	3.807000	0.55591	2.793000	0.96121	0.655000	0.94253	CGC	IPO4	-	superfamily_ARM-type_fold		0.672	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	G	NM_024658		24652265	-1	no_errors	ENST00000354464	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24652265	G	A	24652265	3	1	168	1	0	0	0	0	1	0	0	0	7815	1116	39	2	939	2	IPO4	14	24652265	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2518204	24652265	82697275	287	32004										
SDR39U1	23351	genome.wustl.edu	37	chr14	24909401	24909401	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cctccagcagcatgatggcaCgctgtcgcccaaagacagct	10	15	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:24909401C>T	ENST00000251343.5	+	0	5086				SDR39U1_ENST00000555365.1_Missense_Mutation_p.R90H|SDR39U1_ENST00000553930.1_Missense_Mutation_p.R132H|SDR39U1_ENST00000554698.1_Missense_Mutation_p.R149H|SDR39U1_ENST00000399390.1_Missense_Mutation_p.R162H|SDR39U1_ENST00000538105.2_Missense_Mutation_p.R175H|SDR39U1_ENST00000399395.3_Missense_Mutation_p.R257H|SDR39U1_ENST00000555561.1_5'UTR			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CATGATGGCACGCTGTCGCCC	0.602																																																	0													39	43	42					14																	24909401		2060	4191	6251	SO:0001624	3_prime_UTR_variant	56948			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.*2910C>T	14.37:g.24909401C>T			Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put	p.R257H	ENST00000251343.5	37	c.770	CCDS32058.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.894509|4.894509	0.91889|0.91889	.|.	.|.	ENSG00000100445|ENSG00000100445	ENST00000399395;ENST00000336353;ENST00000399390;ENST00000553930;ENST00000538105;ENST00000554698;ENST00000555365;ENST00000553343;ENST00000555225|ENST00000556249	T;T;T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91;0.91;1.39|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Domain of unknown function DUF1731, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76550|0.76550	0.4003|0.4003	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.999;0.998|.	T|T	0.78450|0.78450	-0.2199|-0.2199	10|5	0.66056|.	D|.	0.02|.	-14.0398|-14.0398	15.2053|15.2053	0.73175|0.73175	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;257;283;175;149|.	G3V5T1;Q9NRG7-2;Q9NRG7;F6RWC2;Q86TZ5|.	.;.;D39U1_HUMAN;.;.|.	H|M	257;283;162;132;175;149;90;151;90|180	ENSP00000382327:R257H;ENSP00000382322:R162H;ENSP00000452499:R132H;ENSP00000446077:R175H;ENSP00000452438:R149H;ENSP00000451903:R90H;ENSP00000452076:R151H;ENSP00000451593:R90H|.	ENSP00000336854:R283H|.	R|V	-|-	2|1	0|0	SDR39U1|SDR39U1	23979241|23979241	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.975000|0.975000	0.68041|0.68041	6.941000|6.941000	0.75922|0.75922	2.440000|2.440000	0.82611|0.82611	0.563000|0.563000	0.77884|0.77884	CGT|GTG	SDR39U1	-	pfam_DUF1731_C,tigrfam_Sugar_nucleotide_Epase_put		0.602	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SDR39U1	HGNC	protein_coding	OTTHUMT00000412928.1	C			24909401	-1	no_errors	ENST00000399395	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24909401	C	T	24909401	1	4	168	0	1	0	0	0	0	0	0	0	14002	536	19	2		2	SDR39U1	14	24909401	3'UTR	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	257136	24909401	82440139	288	32005										
NUBPL	80224	genome.wustl.edu	37	chr14	32295840	32295840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tttatctttggctaggtgctGtgattgtctccacgccccag	10	11	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:32295840G>A	ENST00000281081.7	+	8	658	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	NUBPL_ENST00000536705.1_Missense_Mutation_p.V109M|NUBPL_ENST00000418681.2_3'UTR	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	205					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GCTAGGTGCTGTGATTGTCTC	0.423																																																	0													83	79	80					14																	32295840		1983	4175	6158	SO:0001583	missense	80224			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"Mitochondrial respiratory chain complex assembly factors"	20278	protein-coding gene	gene with protein product	"iron-sulfur protein required for NADH dehydrogenase"	613621	"chromosome 14 open reading frame 127"	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.613G>A	14.37:g.32295840G>A	ENSP00000281081:p.Val205Met		B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1	p.V205M	ENST00000281081.7	37	c.613	CCDS41940.1	14	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341307	0.60963	.	.	ENSG00000151413	ENST00000281081;ENST00000536705	T;T	0.38887	1.11;1.11	5.45	4.56	0.56223	.	0.056247	0.64402	D	0.000001	T	0.76083	0.3938	H	0.98487	4.245	0.47308	D	0.999385	D;D	0.67145	0.979;0.996	D;D	0.71414	0.964;0.973	D	0.84504	0.0618	10	0.87932	D	0	-32.3274	12.2039	0.54340	0.0835:0.0:0.9164:0.0	.	109;205	B4DWB0;Q8TB37	.;NUBPL_HUMAN	M	205;109	ENSP00000281081:V205M;ENSP00000439286:V109M	ENSP00000281081:V205M	V	+	1	0	NUBPL	31365591	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.185000	0.65076	1.426000	0.47256	0.484000	0.47621	GTG	NUBPL	-	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom		0.423	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1	G	NM_025152		32295840	1	no_errors	ENST00000281081	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32295840	G	A	32295840	3	1	168	1	0	0	0	0	1	0	0	0	10741	1377	48	4	643	4	NUBPL	14	32295840	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7386439	32295840	75053700	289	32006										
TMX1	81542	genome.wustl.edu	37	chr14	51716416	51716416	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtttatttttacagtgtatGatatttgtggcagattgcct	9	4	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:51716416G>A	ENST00000457354.2	+	7	722	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	199					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TACAGTGTATGATATTTGTGG	0.294																																																	0													102	91	95					14																	51716416		1815	4075	5890	SO:0001583	missense	81542			AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"Protein disulfide isomerases"	15487	protein-coding gene	gene with protein product	"thioredoxin-related transmembrane protein", "protein disulfide isomerase family A, member 11"	610527	"thioredoxin domain-containing", "thioredoxin domain containing", "thioredoxin domain containing 1"	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.597G>A	14.37:g.51716416G>A	ENSP00000393316:p.Met199Ile		B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.M199I	ENST00000457354.2	37	c.597	CCDS41953.1	14	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293947	0.40594	.	.	ENSG00000139921	ENST00000457354	T	0.53640	0.61	5.63	5.63	0.86233	.	0.127018	0.64402	D	0.000001	T	0.43433	0.1247	N	0.17474	0.49	0.40973	D	0.984717	D;B	0.56968	0.978;0.024	P;B	0.53861	0.736;0.014	T	0.23048	-1.0199	10	0.27785	T	0.31	-23.6826	13.5735	0.61860	0.0:0.0:0.8445:0.1555	.	115;199	B4DZX7;Q9H3N1	.;TMX1_HUMAN	I	199	ENSP00000393316:M199I	ENSP00000393316:M199I	M	+	3	0	TMX1	50786166	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.507000	0.66999	2.808000	0.96608	0.655000	0.94253	ATG	TMX1	-	NULL		0.294	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMX1	HGNC	protein_coding	OTTHUMT00000411206.1	G	NM_030755		51716416	1	no_errors	ENST00000457354	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51716416	G	A	51716416	3	1	168	1	0	0	0	0	1	0	0	0	16296	1290	45	1	623	1	TMX1	14	51716416	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	19420576	51716416	55633124	290	32007										
DLGAP5	9787	genome.wustl.edu	37	chr14	55643784	55643784	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aagatcatattcttacacttCtgtttttaaaggagtccagg	7	7	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:55643784C>T	ENST00000247191.2	-	8	1261	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E349K	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	349					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTTACACTTCTGTTTTTAAA	0.348																																																	0													52	53	52					14																	55643784		2203	4300	6503	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1045G>A	14.37:g.55643784C>T	ENSP00000247191:p.Glu349Lys		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.E349K	ENST00000247191.2	37	c.1045	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090133	0.20390	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.17054	2.3;2.3	5.62	2.75	0.32379	.	0.879001	0.10348	N	0.685477	T	0.19725	0.0474	M	0.62723	1.935	0.20926	N	0.99982	B;B	0.31153	0.31;0.31	B;B	0.33960	0.173;0.173	T	0.19877	-1.0292	10	0.35671	T	0.21	.	8.2888	0.31946	0.0:0.5932:0.2604:0.1463	.	349;349	A8MTM6;Q15398	.;DLGP5_HUMAN	K	349	ENSP00000378815:E349K;ENSP00000247191:E349K	ENSP00000247191:E349K	E	-	1	0	DLGAP5	54713537	0.013000	0.17824	0.748000	0.31131	0.057000	0.15508	0.347000	0.20014	0.845000	0.35118	0.655000	0.94253	GAA	DLGAP5	-	pfam_GKAP		0.348	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	C	NM_014750		55643784	-1	no_errors	ENST00000247191	ensembl	human	known	70_37	missense	SNP	0.163	T	T	55643784	C	T	55643784	3	4	168	1	0	0	0	0	1	0	0	0	4573	922	32	1	1638	1	DLGAP5	14	55643784	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3927368	55643784	51705756	291	32008										
SYNE2	23224	genome.wustl.edu	37	chr14	64610593	64610593	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agaaagcaagcgctatgaaaGaacggagtttgcagagcacc	12	8	0	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:64610593G>A	ENST00000344113.4	+	83	15622	c.15410G>A	c.(15409-15411)aGa>aAa	p.R5137K	SYNE2_ENST00000357395.3_Missense_Mutation_p.R1522K|SYNE2_ENST00000554584.1_Missense_Mutation_p.R5054K|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1771K|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1522K|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5137K|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5137					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGCTATGAAAGAACGGAGTTT	0.458																																																	0													269	271	270					14																	64610593		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15410G>A	14.37:g.64610593G>A	ENSP00000341781:p.Arg5137Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R5137K	ENST00000344113.4	37	c.15410	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342040	0.24339	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.50001	0.76;0.82;0.76;0.76;0.76;0.82	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000035	T	0.32010	0.0815	L	0.28458	0.855	0.80722	D	1	B;P;B;B	0.36110	0.015;0.537;0.007;0.441	B;B;B;B	0.35470	0.017;0.203;0.018;0.185	T	0.10042	-1.0647	10	0.07482	T	0.82	.	12.3737	0.55269	0.0778:0.0:0.9222:0.0	.	1522;5054;5137;5137	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	5137;1522;5137;5054;5060;1771;1522	ENSP00000350719:R5137K;ENSP00000349969:R1522K;ENSP00000341781:R5137K;ENSP00000452570:R5054K;ENSP00000450831:R1771K;ENSP00000378249:R1522K	ENSP00000261678:R5060K	R	+	2	0	SYNE2	63680346	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	5.098000	0.64548	2.479000	0.83701	0.650000	0.86243	AGA	SYNE2	-	smart_Spectrin/alpha-actinin		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64610593	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64610593	G	A	64610593	3	1	168	1	0	0	0	0	1	0	0	0	15476	942	33	1	15736	1	SYNE2	14	64610593	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	8966809	64610593	42738947	292	32009										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68229100	68229100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccccaagcatgccacgccccGgtggtatcaagcccagtctt	9	17	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:68229100G>A	ENST00000347230.4	-	34	6327	c.6189C>T	c.(6187-6189)acC>acT	p.T2063T	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Silent_p.T2063T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2063					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCACGCCCCGGTGGTATCAA	0.542																																																	0													55	47	50					14																	68229100		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6189C>T	14.37:g.68229100G>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.T2063	ENST00000347230.4	37	c.6189	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68229100	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	0.004	A	A	68229100	G	A	68229100	2	1	168	1	0	0	0	0	0	0	0	1	17698	1103	39	2		2	ZFYVE26	14	68229100	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3618507	68229100	39120440	293	32010										
KIAA0317	9870	genome.wustl.edu	37	chr14	75150065	75150065	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	accaagcttcactgtgatttCataacgcccagccttgcgca	7	14	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:75150065C>T	ENST00000356357.4	-	5	930	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	139					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACTGTGATTTCATAACGCCCA	0.448																																																	0													130	123	125					14																	75150065		1887	4116	6003	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.415G>A	14.37:g.75150065C>T	ENSP00000348714:p.Glu139Lys		B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.E139K	ENST00000356357.4	37	c.415	CCDS41971.1	14	.	.	.	.	.	.	.	.	.	.	C	8.399	0.841531	0.16963	.	.	ENSG00000119682	ENST00000356357	T	0.52057	0.68	5.65	5.65	0.86999	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.135925	0.64402	D	0.000003	T	0.28699	0.0711	N	0.24115	0.695	0.58432	D	0.999992	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.11690	-1.0577	10	0.05959	T	0.93	.	10.4486	0.44509	0.0:0.7944:0.134:0.0716	.	139;139	O15033-2;O15033	.;K0317_HUMAN	K	139	ENSP00000348714:E139K	ENSP00000348714:E139K	E	-	1	0	KIAA0317	74219818	1.000000	0.71417	0.916000	0.36221	0.294000	0.27393	4.592000	0.61027	2.662000	0.90505	0.563000	0.77884	GAA	KIAA0317	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like		0.448	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	C	NM_014821		75150065	-1	no_errors	ENST00000356357	ensembl	human	known	70_37	missense	SNP	0.996	T	T	75150065	C	T	75150065	3	4	168	1	0	0	0	0	1	0	0	0	8187	835	29	1	2120	1	KIAA0317	14	75150065	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6920965	75150065	32199475	294	32011										
TTLL5	23093	genome.wustl.edu	37	chr14	76135834	76135835	+	Frame_Shift_Ins	INS	-	-	A													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tccatgccgacgctattcttINSacaaaggacaacaatattag							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:76135834_76135835insA	ENST00000298832.9	+	3	355_356	c.150_151insA	c.(151-153)acafs	p.T51fs	TTLL5_ENST00000286650.5_Frame_Shift_Ins_p.T51fs|TTLL5_ENST00000557636.1_Frame_Shift_Ins_p.T51fs|TTLL5_ENST00000556977.1_Frame_Shift_Ins_p.T51fs	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	51					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACGCTATTCTTACAAAGGACAA	0.46																																																	0																																										SO:0001589	frameshift_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.151dupA	14.37:g.76135835_76135835dupA	ENSP00000298832:p.Thr51fs		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Frame_Shift_Ins	INS	pfam_Tub_tyr_ligase	p.T50fs	ENST00000298832.9	37	c.150_151	CCDS32124.1	14																																																																																			TTLL5	-	NULL		0.46	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	-	NM_015072		76135835	1	no_errors	ENST00000298832	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	76135835	-	A	76135834	7	5	168	1	0	1	1	0	0	0	0	0	16761	1741	61	0	156	0	TTLL5	14	76135834	Frame_Shift_Ins	INS	-	TCGA-LP-A4AV-01A-11D-A243-09	985769	76135834	31213706	295	32012										
CCDC88C	440193	genome.wustl.edu	37	chr14	91808753	91808753	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atgggccacgatgccagcctGggtctcaatgtccagctgtt	12	12	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:91808753G>A	ENST00000389857.6	-	6	540	c.454C>T	c.(454-456)Cag>Tag	p.Q152*		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	152					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ATGCCAGCCTGGGTCTCAATG	0.557																																																	0													93	91	91					14																	91808753		2124	4245	6369	SO:0001587	stop_gained	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.454C>T	14.37:g.91808753G>A	ENSP00000374507:p.Gln152*		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Nonsense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.Q152*	ENST00000389857.6	37	c.454	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.234980	0.95207	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	.	.	.	4.95	4.95	0.65309	.	0.000000	0.43579	U	0.000550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-25.176	18.2078	0.89860	0.0:0.0:1.0:0.0	.	.	.	.	X	152;116	.	ENSP00000374507:Q152X	Q	-	1	0	CCDC88C	90878506	1.000000	0.71417	0.914000	0.36105	0.980000	0.70556	6.448000	0.73469	2.302000	0.77476	0.561000	0.74099	CAG	CCDC88C	-	pfam_HOOK		0.557	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	G	XM_029353		91808753	-1	no_errors	ENST00000389857	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	91808753	G	A	91808753	4	1	168	1	0	0	0	0	0	1	0	0	2870	1357	47	4	5732	4	CCDC88C	14	91808753	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	15672919	91808753	15540787	296	32013										
RTL1	388015	genome.wustl.edu	37	chr14	101349520	101349520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aatgcatggcgggggcgggcGgaagcagttcttcaggcagt	18	8	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:101349520G>A	ENST00000534062.1	-	1	1664	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	536					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGGGGCGGGCGGAAGCAGTTC	0.632																																																	0													22	26	25					14																	101349520		692	1591	2283	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1606C>T	14.37:g.101349520G>A	ENSP00000435342:p.Arg536Cys		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.R536C	ENST00000534062.1	37	c.1606	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944549	0.53079	.	.	ENSG00000254656	ENST00000534062	T	0.24538	1.85	3.95	2.01	0.26516	.	0.251147	0.21088	N	0.080372	T	0.26593	0.0650	M	0.62723	1.935	0.24266	N	0.995261	D	0.63880	0.993	B	0.44315	0.446	T	0.12553	-1.0543	10	0.54805	T	0.06	.	8.7109	0.34382	0.0:0.0:0.5679:0.4321	.	536	E9PKS8	.	C	536	ENSP00000435342:R536C	ENSP00000435342:R536C	R	-	1	0	RTL1	100419273	0.994000	0.37717	0.996000	0.52242	0.861000	0.49209	0.188000	0.17018	0.559000	0.29153	0.655000	0.94253	CGC	RTL1	-	NULL		0.632	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	G	NM_001134888		101349520	-1	no_errors	ENST00000534062	ensembl	human	known	70_37	missense	SNP	0.988	A	A	101349520	G	A	101349520	3	1	168	1	0	0	0	0	1	0	0	0	13754	1116	39	2	2474	2	RTL1	14	101349520	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	9540767	101349520	6000020	297	32014										
ZNF839	55778	genome.wustl.edu	37	chr14	102798158	102798158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggcaggggagcagagggcgtCgccaagcaaagccaggctca	17	11	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:102798158C>T	ENST00000558850.1	+	3	1393	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	ZNF839_ENST00000442396.2_Missense_Mutation_p.S464L|ZNF839_ENST00000262236.5_Missense_Mutation_p.S348L|ZNF839_ENST00000559185.1_Missense_Mutation_p.S348L	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	348							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGGGCGTCGCCAAGCAAA	0.567																																																	0													26	31	29					14																	102798158		2013	4180	6193	SO:0001583	missense	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1043C>T	14.37:g.102798158C>T	ENSP00000453363:p.Ser348Leu		B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.S464L	ENST00000558850.1	37	c.1391	CCDS58336.1	14	.	.	.	.	.	.	.	.	.	.	C	6.286	0.420802	0.11928	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.18657	2.2;2.21	3.79	1.31	0.21738	.	.	.	.	.	T	0.08044	0.0201	L	0.27053	0.805	0.09310	N	1	P;P;P	0.43431	0.807;0.593;0.593	B;B;B	0.29524	0.103;0.062;0.062	T	0.14896	-1.0456	9	0.10902	T	0.67	.	3.1178	0.06381	0.0:0.5216:0.2768:0.2016	.	464;227;348	A8K0R7-5;Q9NT83;A8K0R7	.;.;ZN839_HUMAN	L	464;348	ENSP00000399863:S464L;ENSP00000262236:S348L	ENSP00000262236:S348L	S	+	2	0	ZNF839	101867911	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.441000	0.06879	0.688000	0.31529	0.555000	0.69702	TCG	ZNF839	-	NULL		0.567	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF839	HGNC	protein_coding	OTTHUMT00000415492.2	C	NM_018335		102798158	1	no_errors	ENST00000442396	ensembl	human	known	70_37	missense	SNP	0.001	T	T	102798158	C	T	102798158	3	4	168	1	0	0	0	0	1	0	0	0	18218	893	31	1	1401	1	ZNF839	14	102798158	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1448638	102798158	4551382	298	32015										
TECPR2	9895	genome.wustl.edu	37	chr14	102873791	102873791	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cttgtatcttcattgccaggGagaaataaacaggtgagtac	10	7	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr14:102873791G>C	ENST00000359520.7	+	3	562	c.336G>C	c.(334-336)ggG>ggC	p.G112G	TECPR2_ENST00000558678.1_Silent_p.G112G|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	112					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CATTGCCAGGGAGAAATAAAC	0.438																																																	0													100	93	96					14																	102873791		2203	4300	6503	SO:0001819	synonymous_variant	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.336G>C	14.37:g.102873791G>C			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.G112	ENST00000359520.7	37	c.336	CCDS32162.1	14																																																																																			TECPR2	-	superfamily_WD40_repeat_dom		0.438	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	G	NM_014844		102873791	1	no_errors	ENST00000359520	ensembl	human	known	70_37	silent	SNP	0.760	C	C	102873791	G	C	102873791	2	2	168	1	0	0	0	0	0	0	0	1	15774	1161	41	1		1	TECPR2	14	102873791	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	75633	102873791	4475749	299	32016										
RYR3	6263	genome.wustl.edu	37	chr15	33927942	33927942	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actggaggagacatgcgagtCggctgggcgaggccaggctg	19	9	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:33927942C>T	ENST00000389232.4	+	26	3373	c.3303C>T	c.(3301-3303)gtC>gtT	p.V1101V	RYR3_ENST00000415757.3_Silent_p.V1101V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1101	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.V1101V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATGCGAGTCGGCTGGGCGA	0.502																																																	1	Substitution - coding silent(1)	large_intestine(1)											62	65	64					15																	33927942		2027	4198	6225	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3303C>T	15.37:g.33927942C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V1101	ENST00000389232.4	37	c.3303	CCDS45210.1	15																																																																																			RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			33927942	1	no_errors	ENST00000389232	ensembl	human	known	70_37	silent	SNP	0.003	T	T	33927942	C	T	33927942	2	4	168	1	0	0	0	0	0	0	0	1	13800	871	31	1		1	RYR3	15	33927942	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09		33927942	68603450	300	32017										
ITPKA	3706	genome.wustl.edu	37	chr15	41795048	41795048	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaggtatccgagttcttcagGaggcacgaggtaagcggcgg	17	8	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:41795048G>A	ENST00000260386.5	+	6	1226	c.1173G>A	c.(1171-1173)agG>agA	p.R391R		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	391					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGTTCTTCAGGAGGCACGAGG	0.687																																																	0													18	20	19					15																	41795048		2201	4294	6495	SO:0001819	synonymous_variant	3706			X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"inositol 1,4,5-trisphosphate 3-kinase A"			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.1173G>A	15.37:g.41795048G>A			Q8TAN3	Silent	SNP	pfam_IPK	p.R391	ENST00000260386.5	37	c.1173	CCDS10076.1	15																																																																																			ITPKA	-	pfam_IPK		0.687	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKA	HGNC	protein_coding	OTTHUMT00000252695.3	G	NM_002220		41795048	1	no_errors	ENST00000260386	ensembl	human	known	70_37	silent	SNP	0.912	A	A	41795048	G	A	41795048	2	1	168	1	0	0	0	0	0	0	0	1	7937	1165	41	1		1	ITPKA	15	41795048	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7867106	41795048	60736344	301	32018										
MGA	23269	genome.wustl.edu	37	chr15	42058330	42058330	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atagcaagccatctgaccatCtgaaagacaccgtcaggaat	8	11	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:42058330C>G	ENST00000570161.1	+	23	8050	c.8050C>G	c.(8050-8052)Ctg>Gtg	p.L2684V	MGA_ENST00000219905.7_Missense_Mutation_p.L2684V|MGA_ENST00000545763.1_Missense_Mutation_p.L2475V|MGA_ENST00000566586.1_Missense_Mutation_p.L2475V|MGA_ENST00000389936.4_Missense_Mutation_p.L2645V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCTGACCATCTGAAAGACAC	0.453																																																	0													72	69	70					15																	42058330		1909	4125	6034	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8050C>G	15.37:g.42058330C>G	ENSP00000457035:p.Leu2684Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L2684V	ENST00000570161.1	37	c.8050	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068347	0.36470	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85702	-1.99;-1.99;-2.02	5.38	4.4	0.53042	.	1.137290	0.06940	N	0.812614	T	0.73040	0.3536	N	0.19112	0.55	0.21841	N	0.999518	B;B	0.31548	0.328;0.22	B;B	0.24394	0.053;0.024	T	0.62905	-0.6755	10	0.87932	D	0	.	4.4493	0.11612	0.2391:0.6314:0.0:0.1294	.	2475;2684	F5H7K2;E7ENI0	.;.	V	2684;2645;2475	ENSP00000219905:L2684V;ENSP00000374586:L2645V;ENSP00000442467:L2475V	ENSP00000219905:L2684V	L	+	1	2	MGA	39845622	0.861000	0.29849	1.000000	0.80357	0.866000	0.49608	1.390000	0.34464	2.793000	0.96121	0.655000	0.94253	CTG	MGA	-	NULL		0.453	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		42058330	1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.944	G	G	42058330	C	G	42058330	3	3	168	1	0	0	0	0	1	0	0	0	9563	912	32	1	8140	1	MGA	15	42058330	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	263282	42058330	60473062	302	32019										
SLC27A2	11001	genome.wustl.edu	37	chr15	50489719	50489719	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctacaagcagctgtcgaagaGatactgccaagccttaaaaa	8	10	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:50489719G>C	ENST00000267842.5	+	2	733	c.501G>C	c.(499-501)gaG>gaC	p.E167D	SLC27A2_ENST00000544960.1_5'UTR|SLC27A2_ENST00000380902.4_Missense_Mutation_p.E167D	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	167					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTGTCGAAGAGATACTGCCAA	0.343																																																	0													78	75	76					15																	50489719		2196	4295	6491	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.501G>C	15.37:g.50489719G>C	ENSP00000267842:p.Glu167Asp		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E167D	ENST00000267842.5	37	c.501	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496244	0.64186	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.52295	0.67;0.67	5.53	3.66	0.41972	AMP-dependent synthetase/ligase (1);	0.235784	0.42294	D	0.000725	T	0.43809	0.1264	L	0.35542	1.07	0.80722	D	1	B;P	0.41131	0.329;0.739	P;P	0.48873	0.496;0.593	T	0.14727	-1.0462	10	0.27785	T	0.31	.	10.1472	0.42771	0.1635:0.0:0.8365:0.0	.	167;167	Q6PF09;O14975	.;S27A2_HUMAN	D	167	ENSP00000370289:E167D;ENSP00000267842:E167D	ENSP00000267842:E167D	E	+	3	2	SLC27A2	48277011	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.737000	0.26144	0.706000	0.31912	0.655000	0.94253	GAG	SLC27A2	-	pfam_AMP-dep_Synth/Lig		0.343	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	G	NM_003645		50489719	1	no_errors	ENST00000267842	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50489719	G	C	50489719	3	2	168	1	0	0	0	0	1	0	0	0	14556	933	33	1	507	1	SLC27A2	15	50489719	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	8431389	50489719	52041673	303	32020										
TLN2	83660	genome.wustl.edu	37	chr15	63111741	63111741	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagaaaccaaccccagaattCaagcagcagctggccgcttt	8	14	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:63111741C>G	ENST00000561311.1	+	52	7028	c.6798C>G	c.(6796-6798)ttC>ttG	p.F2266L	TLN2_ENST00000306829.6_Missense_Mutation_p.F2266L			Q9Y4G6	TLN2_HUMAN	talin 2	2266			F -> L (in dbSNP:rs3816988).		cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCCCAGAATTCAAGCAGCAGC	0.542																																																	0													84	86	86					15																	63111741		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6798C>G	15.37:g.63111741C>G	ENSP00000453508:p.Phe2266Leu		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.F2266L	ENST00000561311.1	37	c.6798	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744979	0.30865	.	.	ENSG00000171914	ENST00000306829	T	0.64618	-0.11	5.51	1.22	0.21188	.	0.187066	0.48286	N	0.000199	T	0.23532	0.0569	N	0.01003	-1.06	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.14783	-1.0460	10	0.22706	T	0.39	-6.6987	3.2007	0.06649	0.2822:0.3148:0.3187:0.0843	.	2266	Q9Y4G6	TLN2_HUMAN	L	2266	ENSP00000303476:F2266L	ENSP00000303476:F2266L	F	+	3	2	TLN2	60898794	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	0.446000	0.21694	0.689000	0.31550	0.655000	0.94253	TTC	TLN2	-	NULL		0.542	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	C			63111741	1	no_errors	ENST00000306829	ensembl	human	known	70_37	missense	SNP	0.999	G	G	63111741	C	G	63111741	3	3	168	1	0	0	0	0	1	0	0	0	15978	825	29	1	6996	1	TLN2	15	63111741	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	12622022	63111741	39419651	304	32021										
DENND4A	10260	genome.wustl.edu	37	chr15	66021429	66021429	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgagaaatagtgttggtatCtacatcaacacaactgacat	7	8	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:66021429C>G	ENST00000431932.2	-	11	1676	c.1468G>C	c.(1468-1470)Gat>Cat	p.D490H	DENND4A_ENST00000443035.3_Missense_Mutation_p.D490H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	490	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTGTTGGTATCTACATCAACA	0.333																																																	0													46	42	44					15																	66021429		1899	4113	6012	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1468G>C	15.37:g.66021429C>G	ENSP00000396830:p.Asp490His		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.D490H	ENST00000431932.2	37	c.1468	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478061	0.84747	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.21932	1.98;1.98	5.74	5.74	0.90152	DENN (3);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	T	0.72304	-0.4333	10	0.87932	D	0	.	19.9089	0.97019	0.0:1.0:0.0:0.0	.	490;490;490	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	H	490	ENSP00000391167:D490H;ENSP00000396830:D490H	ENSP00000396830:D490H	D	-	1	0	DENND4A	63808483	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.709000	0.92574	0.591000	0.81541	GAT	DENND4A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.333	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	C	NM_005848		66021429	-1	no_errors	ENST00000443035	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66021429	C	G	66021429	3	3	168	1	0	0	0	0	1	0	0	0	4443	913	32	1	4344	1	DENND4A	15	66021429	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2909688	66021429	36509963	305	32022										
FEM1B	10116	genome.wustl.edu	37	chr15	68582061	68582061	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccataccacagtaactaattCaacccccctgcgggcagcat	6	16	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:68582061C>T	ENST00000306917.4	+	2	980	c.365C>T	c.(364-366)tCa>tTa	p.S122L		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	122					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GTAACTAATTCAACCCCCCTG	0.458																																																	0													90	76	81					15																	68582061		2200	4298	6498	SO:0001583	missense	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.365C>T	15.37:g.68582061C>T	ENSP00000307298:p.Ser122Leu		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S122L	ENST00000306917.4	37	c.365	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204516	0.79127	.	.	ENSG00000169018	ENST00000306917	T	0.65916	-0.18	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	N	0.11154	0.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58375	-0.7647	10	0.11485	T	0.65	0.4858	18.754	0.91825	0.0:1.0:0.0:0.0	.	122	Q9UK73	FEM1B_HUMAN	L	122	ENSP00000307298:S122L	ENSP00000307298:S122L	S	+	2	0	FEM1B	66369115	1.000000	0.71417	0.942000	0.38095	0.922000	0.55478	7.793000	0.85851	2.661000	0.90470	0.555000	0.69702	TCA	FEM1B	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.458	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	C			68582061	1	no_errors	ENST00000306917	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68582061	C	T	68582061	3	4	168	1	0	0	0	0	1	0	0	0	5828	838	29	1	371	1	FEM1B	15	68582061	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2560632	68582061	33949331	306	32023										
THSD4	79875	genome.wustl.edu	37	chr15	72020903	72020903	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aacagccctgagaagtcgttCtggacgctccatcatcaatg	9	12	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:72020903C>T	ENST00000355327.3	+	9	1507	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	THSD4_ENST00000261862.6_Missense_Mutation_p.S458F|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.S98F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	458					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGAAGTCGTTCTGGACGCTCC	0.498																																																	0													119	111	113					15																	72020903		1910	4109	6019	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1373C>T	15.37:g.72020903C>T	ENSP00000347484:p.Ser458Phe		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.S458F	ENST00000355327.3	37	c.1373	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644816	0.87859	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.53857	0.6;0.6;0.6	5.17	5.17	0.71159	ADAM-TS Spacer 1 (1);	0.186411	0.45606	D	0.000357	T	0.70448	0.3225	M	0.69358	2.11	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.966;0.997;0.984	D;P;D;P	0.75020	0.985;0.776;0.931;0.876	T	0.73119	-0.4083	10	0.62326	D	0.03	.	16.1685	0.81786	0.0:1.0:0.0:0.0	.	98;98;458;458	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	F	458;458;98	ENSP00000347484:S458F;ENSP00000261862:S458F;ENSP00000350413:S98F	ENSP00000261862:S458F	S	+	2	0	THSD4	69807957	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.637000	0.83313	2.404000	0.81709	0.462000	0.41574	TCT	THSD4	-	pfam_ADAM_spacer1		0.498	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	C	NM_024817		72020903	1	no_errors	ENST00000261862	ensembl	human	known	70_37	missense	SNP	0.999	T	T	72020903	C	T	72020903	3	4	168	1	0	0	0	0	1	0	0	0	15908	913	32	1	1403	1	THSD4	15	72020903	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3438842	72020903	30510489	307	32024										
TBC1D21	161514	genome.wustl.edu	37	chr15	74166088	74166088	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgaaaacagcctctctgccaGacagtcagcctccttcatcc	6	16	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:74166088G>A	ENST00000300504.2	+	1	121	c.38G>A	c.(37-39)aGa>aAa	p.R13K	TBC1D21_ENST00000535547.2_Missense_Mutation_p.R13K|RP11-24D15.1_ENST00000562667.1_RNA|RP11-24D15.1_ENST00000569137.1_RNA|TBC1D21_ENST00000562056.1_Missense_Mutation_p.R13K	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	13						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CTCTCTGCCAGACAGTCAGCC	0.567											OREG0023267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													200	124	150					15																	74166088		2198	4297	6495	SO:0001583	missense	161514			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.38G>A	15.37:g.74166088G>A	ENSP00000300504:p.Arg13Lys	1150	B9A6M2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R13K	ENST00000300504.2	37	c.38	CCDS10252.1	15	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297427	0.40694	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.14766	2.56;2.48	5.64	1.1	0.20463	.	0.616514	0.14353	N	0.324932	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	B;B	0.27791	0.083;0.189	B;B	0.29785	0.05;0.107	T	0.35624	-0.9781	10	0.36615	T	0.2	-5.7762	6.4767	0.22039	0.0913:0.0:0.3519:0.5568	.	13;13	B9A6M2;Q8IYX1	.;TBC21_HUMAN	K	13	ENSP00000300504:R13K;ENSP00000439325:R13K	ENSP00000300504:R13K	R	+	2	0	TBC1D21	71953141	0.922000	0.31269	0.022000	0.16811	0.946000	0.59487	0.352000	0.20113	0.279000	0.22186	0.563000	0.77884	AGA	TBC1D21	-	NULL		0.567	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	G	NM_153356		74166088	1	no_errors	ENST00000300504	ensembl	human	known	70_37	missense	SNP	0.062	A	A	74166088	G	A	74166088	3	1	168	1	0	0	0	0	1	0	0	0	15640	942	33	1	40	1	TBC1D21	15	74166088	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2145185	74166088	28365304	308	32025										
PML	5371	genome.wustl.edu	37	chr15	74315241	74315241	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gacagcagccacagtgagctCaagtgcgacatcagcgcaga	12	12	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:74315241C>G	ENST00000268058.3	+	3	771	c.675C>G	c.(673-675)ctC>ctG	p.L225L	PML_ENST00000435786.2_Silent_p.L225L|PML_ENST00000565898.1_Silent_p.L225L|PML_ENST00000395135.3_Silent_p.L225L|PML_ENST00000563500.1_Silent_p.L225L|PML_ENST00000564428.1_Silent_p.L225L|PML_ENST00000268059.6_Silent_p.L225L|PML_ENST00000359928.4_Silent_p.L225L|PML_ENST00000395132.2_Silent_p.L225L|PML_ENST00000354026.6_Silent_p.L225L|PML_ENST00000567543.1_Silent_p.L225L|PML_ENST00000569965.1_Silent_p.L225L|PML_ENST00000436891.3_Silent_p.L225L|PML_ENST00000569477.1_Silent_p.L225L	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	225					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACAGTGAGCTCAAGTGCGACA	0.617			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													40	36	37					15																	74315241		2198	4297	6495	SO:0001819	synonymous_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.675C>G	15.37:g.74315241C>G			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L225	ENST00000268058.3	37	c.675	CCDS10255.1	15																																																																																			PML	-	NULL		0.617	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	C	NM_002675		74315241	1	no_errors	ENST00000268058	ensembl	human	known	70_37	silent	SNP	0.026	G	G	74315241	C	G	74315241	2	3	168	1	0	0	0	0	0	0	0	1	12159	813	29	1		1	PML	15	74315241	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	149153	74315241	28216151	309	32026										
CCDC33	80125	genome.wustl.edu	37	chr15	74564043	74564043	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcctctcctctcctctccaGatctttctccggggagtcaa	6	17	6	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:74564043G>A	ENST00000398814.3	+	6	977		c.e6-1		CCDC33_ENST00000321288.5_Splice_Site	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33											breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCCTCTCCAGATCTTTCTCC	0.572																																																	0													34	37	36					15																	74564043		2017	4163	6180	SO:0001630	splice_region_variant	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.547-1G>A	15.37:g.74564043G>A			A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Splice_Site	SNP	-	e8-1	ENST00000398814.3	37	c.1156-1	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	g	13.49	2.253173	0.39797	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5203	0.56056	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC33	72351096	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	4.272000	0.58908	2.325000	0.78763	0.558000	0.71614	.	CCDC33	-	-		0.572	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2	G	NM_182791	Intron	74564043	1	no_errors	ENST00000321288	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	74564043	G	A	74564043	5	1	168	1	0	0	0	0	0	0	1	0	2811	956	33	1	568	1	CCDC33	15	74564043	Splice_Site	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	248802	74564043	27967349	310	32027										
LINGO1	84894	genome.wustl.edu	37	chr15	77907516	77907516	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtagggccagtgggagatctCcaagaccttgagtcggtaca	14	9	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:77907516C>G	ENST00000355300.6	-	2	907	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.E239Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	245					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGGGAGATCTCCAAGACCTTG	0.582																																																	0													126	134	131					15																	77907516		2179	4277	6456	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.733G>C	15.37:g.77907516C>G	ENSP00000347451:p.Glu245Gln		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E245Q	ENST00000355300.6	37	c.733	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999226	0.54147	.	.	ENSG00000169783	ENST00000355300	T	0.53423	0.62	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	M	0.73598	2.24	0.80722	D	1	P	0.39116	0.66	B	0.31547	0.132	T	0.55451	-0.8139	10	0.44086	T	0.13	.	19.3317	0.94293	0.0:1.0:0.0:0.0	.	245	Q96FE5	LIGO1_HUMAN	Q	245	ENSP00000347451:E245Q	ENSP00000347451:E245Q	E	-	1	0	LINGO1	75694571	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.818000	0.86416	2.582000	0.87167	0.561000	0.74099	GAG	LINGO1	-	NULL		0.582	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	C	NM_032808		77907516	-1	no_errors	ENST00000355300	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77907516	C	G	77907516	3	3	168	1	0	0	0	0	1	0	0	0	8835	864	30	1	1133	1	LINGO1	15	77907516	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3343473	77907516	24623876	311	32028										
ADAMTS7	11173	genome.wustl.edu	37	chr15	79068583	79068583	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acgcccatgccacagctccgTgagcagatggaccaggcgct	12	15	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:79068583T>A	ENST00000388820.4	-	11	1863	c.1653A>T	c.(1651-1653)tcA>tcT	p.S551S	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	551	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CACAGCTCCGTGAGCAGATGG	0.682																																																	0													53	60	57					15																	79068583		2196	4290	6486	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1653A>T	15.37:g.79068583T>A			Q14F51|Q6P7J9	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S551	ENST00000388820.4	37	c.1653	CCDS32303.1	15																																																																																			ADAMTS7	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS		0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	T	NM_014272		79068583	-1	no_errors	ENST00000388820	ensembl	human	known	70_37	silent	SNP	0.759	A	A	79068583	T	A	79068583	2	1	168	1	0	0	0	0	0	0	0	1	271	1683	59	5		5	ADAMTS7	15	79068583	Silent	SNP	T	TCGA-LP-A4AV-01A-11D-A243-09	1161067	79068583	23462809	312	32029										
MORF4L1	10933	genome.wustl.edu	37	chr15	79165368	79165368	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aatcacttataaatggcgccGaagcaggacccgaagcctaa	9	11	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:79165368G>A	ENST00000331268.5	+	1	213	c.9G>A	c.(7-9)ccG>ccA	p.P3P	MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558502.1_5'Flank|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Silent_p.P3P|MORF4L1_ENST00000558746.1_Silent_p.P3P|MORF4L1_ENST00000559345.1_5'UTR	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	3					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AAATGGCGCCGAAGCAGGACC	0.612																																																	0													39	33	35					15																	79165368		2059	4070	6129	SO:0001819	synonymous_variant	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.9G>A	15.37:g.79165368G>A			B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Silent	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.P3	ENST00000331268.5	37	c.9	CCDS10307.1	15																																																																																			MORF4L1	-	pirsf_EAF3/MRG15		0.612	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	G	NM_006791		79165368	1	no_errors	ENST00000331268	ensembl	human	known	70_37	silent	SNP	0.999	A	A	79165368	G	A	79165368	2	1	168	1	0	0	0	0	0	0	0	1	9729	1045	37	1		1	MORF4L1	15	79165368	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	96785	79165368	23366024	313	32030										
FSD2	123722	genome.wustl.edu	37	chr15	83438506	83438506	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atgagtagcccattacctgtCatgtacactgcacgctcgct	8	13	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:83438506C>T	ENST00000334574.8	-	8	1579	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	FSD2_ENST00000541889.1_Intron			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	466	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CATTACCTGTCATGTACACTG	0.507																																																	0													85	83	84					15																	83438506		1881	4116	5997	SO:0001583	missense	123722			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1398G>A	15.37:g.83438506C>T	ENSP00000335651:p.Met466Ile		B3KVG1|B7ZM02	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.M466I	ENST00000334574.8	37	c.1398	CCDS45332.1	15	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258947	0.39896	.	.	ENSG00000186628	ENST00000334574	T	0.52057	0.68	5.82	4.9	0.64082	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.197444	0.56097	D	0.000030	T	0.43433	0.1247	L	0.57536	1.79	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.37549	-0.9701	10	0.51188	T	0.08	-29.8759	10.2608	0.43425	0.0:0.8343:0.0:0.1657	.	466	A1L4K1	FSD2_HUMAN	I	466	ENSP00000335651:M466I	ENSP00000335651:M466I	M	-	3	0	FSD2	81235560	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	3.259000	0.51515	1.462000	0.47948	0.561000	0.74099	ATG	FSD2	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	HGNC	protein_coding	OTTHUMT00000418385.1	C	NM_001007122		83438506	-1	no_errors	ENST00000334574	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83438506	C	T	83438506	3	4	168	1	0	0	0	0	1	0	0	0	6089	826	29	1	875	1	FSD2	15	83438506	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	4273138	83438506	19092886	314	32031										
KIF7	374654	genome.wustl.edu	37	chr15	90189155	90189155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	taaggtccgcctgggcggctCctcctcctcctcttcctcct	8	19	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr15:90189155C>T	ENST00000394412.3	-	8	1967	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	631	Poly-Glu.|Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGGCGGctcctcctcctcc	0.637																																																	0													98	91	93					15																	90189155		2200	4299	6499	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1891G>A	15.37:g.90189155C>T	ENSP00000377934:p.Glu631Lys		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E631K	ENST00000394412.3	37	c.1891	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	c	8.906	0.957459	0.18507	.	.	ENSG00000166813	ENST00000394412	T	0.69926	-0.44	3.55	1.53	0.23141	.	0.520994	0.19517	N	0.112376	T	0.52549	0.1741	L	0.50333	1.59	0.29330	N	0.866753	B;B	0.28291	0.206;0.0	B;B	0.25140	0.058;0.001	T	0.43410	-0.9393	10	0.07813	T	0.8	.	10.241	0.43312	0.0:0.6406:0.3594:0.0	.	118;631	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	631	ENSP00000377934:E631K	ENSP00000377934:E631K	E	-	1	0	KIF7	87990159	0.344000	0.24827	0.302000	0.25058	0.387000	0.30353	1.535000	0.36061	0.240000	0.21263	0.546000	0.68486	GAG	KIF7	-	NULL		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90189155	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	0.998	T	T	90189155	C	T	90189155	3	4	168	1	0	0	0	0	1	0	0	0	8329	864	30	1	2188	1	KIF7	15	90189155	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6750649	90189155	12342237	315	32032										
CREBBP	1387	genome.wustl.edu	37	chr16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcatggtaaacggctgtgcGgaggcaacgtggccggaaga	16	9	1	1	rs398124146		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	7	Substitution - Missense(7)	haematopoietic_and_lymphoid_tissue(4)|urinary_tract(1)|lung(1)|central_nervous_system(1)											75	68	71					16																	3788618		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4336C>T	16.37:g.3788618G>A	ENSP00000262367:p.Arg1446Cys		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1446C	ENST00000262367.5	37	c.4336	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	g	17.20	3.329498	0.60743	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94330	-3.4;-3.4	5.28	4.29	0.51040	.	0.000000	0.64402	D	0.000004	D	0.97739	0.9258	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98988	1.0807	10	0.87932	D	0	-29.6499	15.2916	0.73870	0.0:0.0:0.8588:0.1412	.	1476;1446	Q4LE28;Q92793	.;CBP_HUMAN	C	1446;1476;1408;35	ENSP00000262367:R1446C;ENSP00000371502:R1408C	ENSP00000262367:R1446C	R	-	1	0	CREBBP	3728619	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.937000	0.63513	1.303000	0.44873	0.561000	0.74099	CGC	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3788618	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3788618	G	A	3788618	3	1	168	1	0	0	0	0	1	0	0	0	3866	1116	39	2	3016	2	CREBBP	16	3788618	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		3788618	86566135	316	32033										
GPRC5B	51704	genome.wustl.edu	37	chr16	19884105	19884105	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaggccaccgaggtgatcacGaagagcaggaggaaggtgag	18	7	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:19884105G>A	ENST00000300571.2	-	2	254	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GPRC5B_ENST00000569479.1_Silent_p.F21F|GPRC5B_ENST00000537135.1_Silent_p.F47F|GPRC5B_ENST00000535671.1_Silent_p.F21F|GPRC5B_ENST00000569847.1_Silent_p.F21F	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	21					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGTGATCACGAAGAGCAGGA	0.577																																																	0													56	55	55					16																	19884105		2197	4300	6497	SO:0001819	synonymous_variant	51704			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.63C>T	16.37:g.19884105G>A			D2DFB0|O75205|Q8NBZ8	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.F47	ENST00000300571.2	37	c.141	CCDS10581.1	16																																																																																			GPRC5B	-	NULL		0.577	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	G			19884105	-1	no_errors	ENST00000537135	ensembl	human	known	70_37	silent	SNP	0.074	A	A	19884105	G	A	19884105	2	1	168	1	0	0	0	0	0	0	0	1	6745	1049	37	1		1	GPRC5B	16	19884105	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	16095487	19884105	70470648	317	32034										
ACSM3	6296	genome.wustl.edu	37	chr16	20808273	20808273	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaaagaaatgaactgaggaaGaaagaatggaagacaattta	10	2	0	6			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:20808273G>C	ENST00000289416.5	+	14	2215	c.1740G>C	c.(1738-1740)aaG>aaC	p.K580N	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.K572N|ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000357967.4_3'UTR|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000564349.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	580					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AACTGAGGAAGAAAGAATGGA	0.353																																																	0													79	84	82					16																	20808273		2201	4299	6500	SO:0001583	missense	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1740G>C	16.37:g.20808273G>C	ENSP00000289416:p.Lys580Asn		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K580N	ENST00000289416.5	37	c.1740	CCDS10589.1	16	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850434	0.32699	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.52295	0.67;0.67	5.82	-4.9	0.03094	.	0.276854	0.38837	N	0.001549	T	0.23330	0.0564	N	0.20445	0.575	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15484	0.013;0.013	T	0.05022	-1.0911	10	0.19147	T	0.46	-28.0879	8.8377	0.35121	0.3193:0.473:0.2078:0.0	.	572;580	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	N	580;572	ENSP00000289416:K580N;ENSP00000395297:K572N	ENSP00000289416:K580N	K	+	3	2	ACSM3	20715774	0.976000	0.34144	0.855000	0.33649	0.975000	0.68041	0.041000	0.13927	-0.457000	0.07033	0.650000	0.86243	AAG	ACSM3	-	NULL		0.353	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2	G	NM_005622		20808273	1	no_errors	ENST00000289416	ensembl	human	known	70_37	missense	SNP	0.771	C	C	20808273	G	C	20808273	3	2	168	1	0	0	0	0	1	0	0	0	185	933	33	1	1883	1	ACSM3	16	20808273	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	924168	20808273	69546480	318	32035										
DNAH3	55567	genome.wustl.edu	37	chr16	21082114	21082114	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtgatcatcaagtagcatttGaatgtcatcaattgcacaca	7	8	4	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:21082114G>A	ENST00000261383.3	-	22	3117	c.3118C>T	c.(3118-3120)Caa>Taa	p.Q1040*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Q1040*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1040	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTAGCATTTGAATGTCATCA	0.403																																																	0													199	173	182					16																	21082114		2201	4300	6501	SO:0001587	stop_gained	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3118C>T	16.37:g.21082114G>A	ENSP00000261383:p.Gln1040*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.Q1040*	ENST00000261383.3	37	c.3118	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	42	9.251006	0.99115	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.5996	0.95554	0.0:0.0:1.0:0.0	.	.	.	.	X	1040	.	ENSP00000261383:Q1040X	Q	-	1	0	DNAH3	20989615	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	9.663000	0.98605	2.648000	0.89879	0.573000	0.79308	CAA	DNAH3	-	pfam_Dynein_heavy_dom-2		0.403	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21082114	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	21082114	G	A	21082114	4	1	168	1	0	0	0	0	0	1	0	0	4613	1299	45	1	9395	1	DNAH3	16	21082114	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	273841	21082114	69272639	319	32036										
EEF2K	29904	genome.wustl.edu	37	chr16	22268579	22268579	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcctgtcccctgtaggccttCagccacttcacttttgagcg	8	15	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:22268579C>T	ENST00000263026.5	+	8	1248	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	258	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGTAGGCCTTCAGCCACTTCA	0.577																																					NSCLC(195;1411 2157 20319 27471 51856)												0													126	107	114					16																	22268579		2197	4300	6497	SO:0001819	synonymous_variant	29904			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.774C>T	16.37:g.22268579C>T			Q8N588	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.F258	ENST00000263026.5	37	c.774	CCDS10604.1	16																																																																																			EEF2K	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase		0.577	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	C	NM_013302		22268579	1	no_errors	ENST00000263026	ensembl	human	known	70_37	silent	SNP	1.000	T	T	22268579	C	T	22268579	2	4	168	1	0	0	0	0	0	0	0	1	4940	825	29	1		1	EEF2K	16	22268579	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1186465	22268579	68086174	320	32037										
CCDC101	112869	genome.wustl.edu	37	chr16	28597034	28597034	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccaaggccgatgcagaggctGagtgcaagtgagtaccgtgc	15	10	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:28597034G>A	ENST00000317058.3	+	4	404	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	73					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TGCAGAGGCTGAGTGCAAGTG	0.602																																																	0													119	88	98					16																	28597034		2197	4300	6497	SO:0001583	missense	112869			AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"SAGA-associated factor 29 homolog (yeast)"	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.217G>A	16.37:g.28597034G>A	ENSP00000316114:p.Glu73Lys		Q96MF5	Missense_Mutation	SNP	pfam_SGF29_tudor-like_dom	p.E73K	ENST00000317058.3	37	c.217	CCDS10635.1	16	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984008	0.93044	.	.	ENSG00000176476	ENST00000317058	.	.	.	5.74	5.74	0.90152	.	0.059025	0.64402	D	0.000002	T	0.70325	0.3211	M	0.81112	2.525	0.80722	D	1	B	0.27498	0.18	B	0.24541	0.054	T	0.71034	-0.4709	9	0.72032	D	0.01	.	17.4153	0.87498	0.0:0.0:1.0:0.0	.	73	Q96ES7	SGF29_HUMAN	K	73	.	ENSP00000316114:E73K	E	+	1	0	CCDC101	28504535	1.000000	0.71417	0.971000	0.41717	0.634000	0.38068	8.187000	0.89708	2.716000	0.92895	0.563000	0.77884	GAG	CCDC101	-	NULL		0.602	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC101	HGNC	protein_coding	OTTHUMT00000254691.1	G	NM_138414		28597034	1	no_errors	ENST00000317058	ensembl	human	known	70_37	missense	SNP	0.999	A	A	28597034	G	A	28597034	3	1	168	1	0	0	0	0	1	0	0	0	2740	1291	45	1	227	1	CCDC101	16	28597034	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	6328455	28597034	61757719	321	32038										
ABCC11	85320	genome.wustl.edu	37	chr16	48227826	48227826	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaccagtagctcagccaccaGaagctgaagatcgttaagaa	9	10	1	4	rs200118643		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:48227826G>T	ENST00000394747.1	-	18	2821	c.2472C>A	c.(2470-2472)ttC>ttA	p.F824L	ABCC11_ENST00000394748.1_Missense_Mutation_p.F824L|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.F824L|ABCC11_ENST00000356608.2_Missense_Mutation_p.F824L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	824	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCAGCCACCAGAAGCTGAAGA	0.527																																																	0													129	102	111					16																	48227826		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2472C>A	16.37:g.48227826G>T	ENSP00000378230:p.Phe824Leu		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.F824L	ENST00000394747.1	37	c.2472	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924615	0.52653	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.25	2.16	0.27623	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.331298	0.32028	N	0.006686	D	0.89801	0.6820	L	0.44542	1.39	0.80722	D	1	B;B	0.14438	0.01;0.005	B;B	0.14578	0.006;0.011	D	0.84388	0.0553	10	0.72032	D	0.01	-4.041	13.9319	0.64001	0.0:0.3538:0.6462:0.0	.	824;824	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	824	ENSP00000311326:F824L;ENSP00000349017:F824L;ENSP00000378231:F824L;ENSP00000378230:F824L	ENSP00000311326:F824L	F	-	3	2	ABCC11	46785327	1.000000	0.71417	0.774000	0.31636	0.944000	0.59088	1.391000	0.34475	0.291000	0.22468	0.655000	0.94253	TTC	ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.527	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	G	NM_032583		48227826	-1	no_errors	ENST00000356608	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48227826	G	T	48227826	3	4	168	1	0	0	0	0	1	0	0	0	51	933	33	3	1724	3	ABCC11	16	48227826	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	19630792	48227826	42126927	322	32039										
EDC4	23644	genome.wustl.edu	37	chr16	67917564	67917564	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agccaccctgcccgctctccCagcctgtgctcctttccctc	6	22	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr16:67917564C>T	ENST00000358933.5	+	28	4182	c.3943C>T	c.(3943-3945)Cag>Tag	p.Q1315*	NRN1L_ENST00000576147.1_5'Flank|NRN1L_ENST00000339176.3_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1315					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q1315*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCGCTCTCCCAGCCTGTGCT	0.602											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Nonsense(1)	lung(1)											143	146	145					16																	67917564		2198	4300	6498	SO:0001587	stop_gained	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3943C>T	16.37:g.67917564C>T	ENSP00000351811:p.Gln1315*	1103	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1315*	ENST00000358933.5	37	c.3943	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	C	44	10.941959	0.99492	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.7351	19.0455	0.93018	0.0:1.0:0.0:0.0	.	.	.	.	X	1315	.	ENSP00000351811:Q1315X	Q	+	1	0	EDC4	66475065	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.595000	0.82710	2.597000	0.87782	0.655000	0.94253	CAG	EDC4	-	NULL		0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	C	NM_014329		67917564	1	no_errors	ENST00000358933	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	67917564	C	T	67917564	4	4	168	1	0	0	0	0	0	1	0	0	4918	595	21	4	4053	4	EDC4	16	67917564	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	19689738	67917564	22437189	323	32040										
GEMIN4	50628	genome.wustl.edu	37	chr17	648334	648334	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atgatgtgcagagcatggcaGaacacctgggtgtaaacaaa	12	7	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:648334G>A	ENST00000319004.5	-	2	3067	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	GEMIN4_ENST00000576778.1_Silent_p.F972F	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	983					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.F983L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGCATGGCAGAACACCTGGG	0.562																																																	2	Substitution - Missense(2)	cervix(2)											37	39	38					17																	648334		2012	4181	6193	SO:0001819	synonymous_variant	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2949C>T	17.37:g.648334G>A			Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	NULL	p.F983	ENST00000319004.5	37	c.2949	CCDS45559.1	17																																																																																			GEMIN4	-	NULL		0.562	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	G	NM_015721		648334	-1	no_errors	ENST00000319004	ensembl	human	known	70_37	silent	SNP	1.000	A	A	648334	G	A	648334	2	1	168	1	0	0	0	0	0	0	0	1	6349	933	33	1		1	GEMIN4	17	648334	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		648334	80546876	324	32041										
P2RX1	5023	genome.wustl.edu	37	chr17	3806895	3806895	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgttcttgatgaaaagagtGaagttctcggcctctcggag	12	8	3	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:3806895G>A	ENST00000225538.3	-	6	829	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TGAAAAGAGTGAAGTTCTCGG	0.617																																																	0													83	84	84					17																	3806895		2203	4300	6503	SO:0001819	synonymous_variant	5023			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.555C>T	17.37:g.3806895G>A			Q9UK84	Silent	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.F185	ENST00000225538.3	37	c.555	CCDS11040.1	17																																																																																			P2RX1	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.617	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	G	NM_002558		3806895	-1	no_errors	ENST00000225538	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3806895	G	A	3806895	2	1	168	1	0	0	0	0	0	0	0	1	11363	1281	45	1		1	P2RX1	17	3806895	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3158561	3806895	77388315	325	32042										
C17orf68	80169	genome.wustl.edu	37	chr17	8146353	8146353	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttccttccctgggacaaccaGacagtcttcacacaatcaat	5	14	3	1	rs201492796		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:8146353G>T	ENST00000315684.8	-	2	154	c.147C>A	c.(145-147)gtC>gtA	p.V49V	CTC1_ENST00000581671.1_Intron	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	49					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGACAACCAGACAGTCTTCA	0.522																																																	0													57	54	55					17																	8146353		1951	4139	6090	SO:0001819	synonymous_variant	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.147C>A	17.37:g.8146353G>T			B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	NULL	p.V49	ENST00000315684.8	37	c.147	CCDS42259.1	17																																																																																			CTC1	-	NULL		0.522	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	G	NM_025099		8146353	-1	no_errors	ENST00000315684	ensembl	human	known	70_37	silent	SNP	0.062	T	T	8146353	G	T	8146353	2	4	168	1	0	0	0	0	0	0	0	1	1880	929	33	3		3	C17orf68	17	8146353	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	4339458	8146353	73048857	326	32043										
ARHGEF15	22899	genome.wustl.edu	37	chr17	8216307	8216307	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acccggcctggcctggagctCagatgggtgcctgtgggggg	19	11	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:8216307C>G	ENST00000361926.3	+	3	779	c.669C>G	c.(667-669)ctC>ctG	p.L223L	ARHGEF15_ENST00000421050.1_Silent_p.L223L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	223					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCTGGAGCTCAGATGGGTGC	0.701																																																	0													64	78	73					17																	8216307		2198	4297	6495	SO:0001819	synonymous_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.669C>G	17.37:g.8216307C>G			A8K6G1|Q8N449|Q9H8B4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.L223	ENST00000361926.3	37	c.669	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL		0.701	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	C	NM_173728		8216307	1	no_errors	ENST00000361926	ensembl	human	known	70_37	silent	SNP	0.961	G	G	8216307	C	G	8216307	2	3	168	1	0	0	0	0	0	0	0	1	898	813	29	1		1	ARHGEF15	17	8216307	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	69954	8216307	72978903	327	32044										
ODF4	146852	genome.wustl.edu	37	chr17	8249090	8249090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcggctcagtagaagaatctCcaagggcacagacgatcaca	10	11	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:8249090C>A	ENST00000328248.2	+	3	882	c.694C>A	c.(694-696)Cca>Aca	p.P232T	ODF4_ENST00000584943.1_Missense_Mutation_p.P117T	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	232					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						AGAAGAATCTCCAAGGGCACA	0.517																																																	0													98	96	96					17																	8249090		2203	4300	6503	SO:0001583	missense	146852			AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"cancer/testis antigen 136"	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.694C>A	17.37:g.8249090C>A	ENSP00000331086:p.Pro232Thr		Q8J021	Missense_Mutation	SNP	NULL	p.P232T	ENST00000328248.2	37	c.694	CCDS11140.1	17	.	.	.	.	.	.	.	.	.	.	C	5.628	0.300526	0.10678	.	.	ENSG00000184650	ENST00000328248	T	0.23950	1.88	3.68	1.6	0.23607	.	3.291720	0.01052	N	0.004485	T	0.16896	0.0406	N	0.14661	0.345	0.09310	N	1	P	0.38020	0.615	B	0.32864	0.154	T	0.30090	-0.9990	10	0.35671	T	0.21	1.1064	9.8084	0.40808	0.0:0.5885:0.4115:0.0	.	232	Q2M2E3	ODFP4_HUMAN	T	232	ENSP00000331086:P232T	ENSP00000331086:P232T	P	+	1	0	ODF4	8189815	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.550000	0.06034	0.512000	0.28257	0.563000	0.77884	CCA	ODF4	-	NULL		0.517	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF4	HGNC	protein_coding	OTTHUMT00000226996.1	C			8249090	1	no_errors	ENST00000328248	ensembl	human	known	70_37	missense	SNP	0.000	A	A	8249090	C	A	8249090	3	1	168	1	0	0	0	0	1	0	0	0	10857	855	30	3	704	3	ODF4	17	8249090	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	32783	8249090	72946120	328	32045										
STX8	9482	genome.wustl.edu	37	chr17	9448566	9448566	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cgagttacaagatcatccaaGaggttctgtcttcggtcccc	9	12	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:9448566G>C	ENST00000306357.4	-	4	673	c.246C>G	c.(244-246)ctC>ctG	p.L82L	STX8_ENST00000574431.1_5'UTR|RP11-565F19.3_ENST00000574460.1_RNA	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	82					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GATCATCCAAGAGGTTCTGTC	0.398																																																	0													147	133	137					17																	9448566		2203	4300	6503	SO:0001819	synonymous_variant	9482			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.246C>G	17.37:g.9448566G>C			O60712|Q53XT8	Silent	SNP	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L82	ENST00000306357.4	37	c.246	CCDS32565.1	17																																																																																			STX8	-	NULL		0.398	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX8	HGNC	protein_coding	OTTHUMT00000439206.3	G	NM_004853		9448566	-1	no_errors	ENST00000306357	ensembl	human	known	70_37	silent	SNP	0.000	C	C	9448566	G	C	9448566	2	2	168	1	0	0	0	0	0	0	0	1	15381	929	33	1		1	STX8	17	9448566	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1199476	9448566	71746644	329	32046										
MYH13	8735	genome.wustl.edu	37	chr17	10215384	10215384	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtccagcttttgcttccactCtgcaaggacctgggagatga	11	11	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:10215384C>A	ENST00000418404.3	-	31	4538	c.4375G>T	c.(4375-4377)Gag>Tag	p.E1459*	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.E1459*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1459					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCTTCCACTCTGCAAGGACC	0.512																																																	0													60	58	59					17																	10215384		1970	4176	6146	SO:0001587	stop_gained	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4375G>T	17.37:g.10215384C>A	ENSP00000404570:p.Glu1459*		O95252|Q9P0U8	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1459*	ENST00000418404.3	37	c.4375	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	45	11.920588	0.99617	.	.	ENSG00000006788	ENST00000252172	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6487	0.88157	0.0:1.0:0.0:0.0	.	.	.	.	X	1459	.	ENSP00000252172:E1459X	E	-	1	0	MYH13	10156109	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.604000	0.82830	2.465000	0.83290	0.655000	0.94253	GAG	MYH13	-	pfam_Myosin_tail		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10215384	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	10215384	C	A	10215384	4	1	168	1	0	0	0	0	0	1	0	0	10055	922	32	3	1481	3	MYH13	17	10215384	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	766818	10215384	70979826	330	32047										
MFAP4	4239	genome.wustl.edu	37	chr17	19290087	19290087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcttaccatctcctcggatcCcggagacctggggggcacac	12	15	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:19290087C>A	ENST00000299610.4	-	2	155	c.71G>T	c.(70-72)gGg>gTg	p.G24V	MFAP4_ENST00000395592.2_Missense_Mutation_p.G48V|MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Missense_Mutation_p.G49V	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	24					cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCCTCGGATCCCGGAGACCTG	0.662																																																	0													13	14	13					17																	19290087		2177	4283	6460	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.71G>T	17.37:g.19290087C>A	ENSP00000299610:p.Gly24Val		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G48V	ENST00000299610.4	37	c.143	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048590	0.36181	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.56275	0.49;0.47	4.84	2.77	0.32553	.	0.408163	0.21019	N	0.081548	T	0.34513	0.0900	N	0.19112	0.55	0.47737	D	0.999506	B;B	0.26081	0.003;0.141	B;B	0.24394	0.001;0.053	T	0.12041	-1.0563	10	0.52906	T	0.07	.	8.276	0.31873	0.1782:0.65:0.1718:0.0	.	24;48	P55083;A8MVM2	MFAP4_HUMAN;.	V	48;24	ENSP00000378957:G48V;ENSP00000299610:G24V	ENSP00000299610:G24V	G	-	2	0	MFAP4	19230680	0.236000	0.23804	0.887000	0.34795	0.766000	0.43426	0.165000	0.16564	0.540000	0.28808	-0.325000	0.08501	GGG	MFAP4	-	NULL		0.662	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	C	NM_002404		19290087	-1	no_errors	ENST00000395592	ensembl	human	known	70_37	missense	SNP	0.971	A	A	19290087	C	A	19290087	3	1	168	1	0	0	0	0	1	0	0	0	9540	623	22	4	716	4	MFAP4	17	19290087	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	9074703	19290087	61905123	331	32048										
SEBOX	147007	genome.wustl.edu	37	chr17	26692212	26692212	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggtgccagagggccgtgccaGagggccatgccaggctgtgc	18	12	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:26692212G>A	ENST00000292114.3	+	0	3148				CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.7_ENST00000577850.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_Intron|CTB-96E2.2_ENST00000555059.2_Intron|VTN_ENST00000438614.1_Intron|VTN_ENST00000431468.1_Silent_p.L14L	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GGCCGTGCCAGAGGGCCATGC	0.622																																																	0													39	44	42					17																	26692212		2000	4166	6166	SO:0001628	intergenic_variant	645832			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26692212G>A				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L14	ENST00000292114.3	37	c.40	CCDS11228.1	17																																																																																			SEBOX	-	NULL		0.622	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEBOX	HGNC	protein_coding	OTTHUMT00000255676.2	G	NM_152464		26692212	-1	no_errors	ENST00000431468	ensembl	human	known	70_37	silent	SNP	0.327	A	A	26692212	G	A	26692212	1	1	168	0	1	0	0	0	0	0	0	0	14007	933	33	1		1	SEBOX	17	26692212	IGR	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7402125	26692212	54502998	332	32049										
SLFN12L	100506736	genome.wustl.edu	37	chr17	33806541	33806541	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aattcgttgtaacaacttttCagtcgagaagttttttattt	6	5	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:33806541C>T	ENST00000260908.7	-	2	805	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Missense_Mutation_p.E259K|SLFN12L_ENST00000449046.1_Missense_Mutation_p.E261K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	230						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AACAACTTTTCAGTCGAGAAG	0.333																																																	0													106	85	92					17																	33806541		692	1591	2283	SO:0001583	missense	100506736			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.688G>A	17.37:g.33806541C>T	ENSP00000437635:p.Glu230Lys		F5H6G3	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.E261K	ENST00000260908.7	37	c.781	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.272920	0.01421	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.27890	1.64;1.64;1.64	2.62	-1.85	0.07784	.	.	.	.	.	T	0.09862	0.0242	N	0.04203	-0.255	0.09310	N	1	B	0.23058	0.079	B	0.28784	0.094	T	0.34229	-0.9837	9	0.02654	T	1	.	3.0943	0.06304	0.0:0.2383:0.2349:0.5268	.	259	Q6IEE8-2	.	K	230;259;261	ENSP00000437635:E230K;ENSP00000354412:E259K;ENSP00000389348:E261K	ENSP00000437635:E230K	E	-	1	0	SLFN12L	30830654	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-1.163000	0.03138	-0.224000	0.09928	0.411000	0.27672	GAA	SLFN12L	-	pfam_ATPase_AAA-4		0.333	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	C	XM_496206		33806541	-1	no_errors	ENST00000449046	ensembl	human	known	70_37	missense	SNP	0.000	T	T	33806541	C	T	33806541	3	4	168	1	0	0	0	0	1	0	0	0	14765	835	29	1	1090	1	SLFN12L	17	33806541	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	7114329	33806541	47388669	333	32050										
STAC2	342667	genome.wustl.edu	37	chr17	37370527	37370527	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcctggggcagaaacttgtaGagtgcaacgtaggagtacat	13	7	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:37370527G>C	ENST00000333461.5	-	8	1269	c.900C>G	c.(898-900)ctC>ctG	p.L300L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	300	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GAAACTTGTAGAGTGCAACGT	0.592																																																	0													159	139	146					17																	37370527		2203	4300	6503	SO:0001819	synonymous_variant	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.900C>G	17.37:g.37370527G>C			Q32MA3	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.L300	ENST00000333461.5	37	c.900	CCDS11335.1	17																																																																																			STAC2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox		0.592	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	G	NM_198993		37370527	-1	no_errors	ENST00000333461	ensembl	human	known	70_37	silent	SNP	1.000	C	C	37370527	G	C	37370527	2	2	168	1	0	0	0	0	0	0	0	1	15270	929	33	1		1	STAC2	17	37370527	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3563986	37370527	43824683	334	32051										
CASC3	22794	genome.wustl.edu	37	chr17	38324645	38324645	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggcactgcctcccccaccacCgcctcatctgtatcctaata	5	19	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:38324645C>G	ENST00000264645.7	+	11	2166	c.1940C>G	c.(1939-1941)cCg>cGg	p.P647R		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	647	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCCCCACCACCGCCTCATCTG	0.468											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													87	79	82					17																	38324645		2203	4300	6503	SO:0001583	missense	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1940C>G	17.37:g.38324645C>G	ENSP00000264645:p.Pro647Arg	877	A8K8R0	Missense_Mutation	SNP	pfam_Btz_dom	p.P647R	ENST00000264645.7	37	c.1940	CCDS11362.1	17	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673145	0.88445	.	.	ENSG00000108349	ENST00000264645;ENST00000394114	.	.	.	5.67	5.67	0.87782	.	0.266237	0.37809	N	0.001925	T	0.65974	0.2743	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70414	-0.4878	9	0.87932	D	0	-10.6085	19.3859	0.94556	0.0:1.0:0.0:0.0	.	647	O15234	CASC3_HUMAN	R	647	.	ENSP00000264645:P647R	P	+	2	0	CASC3	35578171	0.994000	0.37717	0.998000	0.56505	0.959000	0.62525	5.438000	0.66550	2.676000	0.91093	0.655000	0.94253	CCG	CASC3	-	NULL		0.468	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3	C	NM_007359		38324645	1	no_errors	ENST00000264645	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38324645	C	G	38324645	3	3	168	1	0	0	0	0	1	0	0	0	2666	652	23	2	1982	2	CASC3	17	38324645	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	954118	38324645	42870565	335	32052										
TTC25	83538	genome.wustl.edu	37	chr17	40094955	40094955	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaccggaagctgatgcaagaGaaatggctgcgggaccacaa	14	9	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:40094955G>A	ENST00000591658.1	+	0	839							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGATGCAAGAGAAATGGCTGC	0.547																																																	0													132	137	135					17																	40094955		2044	4183	6227			83538			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40094955G>A			Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17																																																																																			TTC25	-	-		0.547	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	G	NM_031421		40094955	1	no_errors	ENST00000591658	ensembl	human	known	70_37	rna	SNP	0.990	A	A	40094955	G	A	40094955	1	1	168	0	1	0	0	0	0	0	0	0	16724	933	33	1		1	TTC25	17	40094955	RNA	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1770310	40094955	41100255	336	32053										
PLEKHH3	79990	genome.wustl.edu	37	chr17	40825805	40825805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaaccaggctcggcgcggggGcagccagggccgcgcccctc	16	17	0	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:40825805G>A	ENST00000591022.1	-	4	733	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.P116S|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.P116S	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	116	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGGCGCGGGGGCAGCCAGGGC	0.692																																																	0													5	6	6					17																	40825805		2001	3956	5957	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.346C>T	17.37:g.40825805G>A	ENSP00000468678:p.Pro116Ser		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.P116S	ENST00000591022.1	37	c.346	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848614	0.17034	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	D;D	0.85861	-1.73;-2.04	4.78	2.81	0.32909	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.282231	0.25601	N	0.029553	T	0.68915	0.3053	N	0.22421	0.69	0.25262	N	0.98958	B;B	0.10296	0.003;0.0	B;B	0.10450	0.005;0.001	T	0.49735	-0.8908	10	0.09084	T	0.74	-12.5372	5.3312	0.15934	0.1731:0.0:0.6651:0.1617	.	116;116	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	S	116	ENSP00000293349:P116S;ENSP00000411885:P116S	ENSP00000293349:P116S	P	-	1	0	PLEKHH3	38079331	1.000000	0.71417	0.980000	0.43619	0.647000	0.38526	2.956000	0.49129	0.627000	0.30340	-0.229000	0.12294	CCC	PLEKHH3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.692	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	G	NM_024927		40825805	-1	no_errors	ENST00000591022	ensembl	human	known	70_37	missense	SNP	0.982	A	A	40825805	G	A	40825805	3	1	168	1	0	0	0	0	1	0	0	0	12102	1203	42	4	2075	4	PLEKHH3	17	40825805	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	730850	40825805	40369405	337	32054										
PLEKHH3	79990	genome.wustl.edu	37	chr17	40828531	40828531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tagtcccggtgcagaagagtGaagcctcgacggcagcagag	15	10	0	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:40828531G>A	ENST00000591022.1	-	1	438	c.51C>T	c.(49-51)ttC>ttT	p.F17F	PLEKHH3_ENST00000293349.6_Silent_p.F17F|PLEKHH3_ENST00000456950.2_5'Flank|PLEKHH3_ENST00000412503.1_Silent_p.F17F	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	17					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAGAAGAGTGAAGCCTCGAC	0.697																																																	0													28	26	27					17																	40828531		2195	4299	6494	SO:0001819	synonymous_variant	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.51C>T	17.37:g.40828531G>A			C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.F17	ENST00000591022.1	37	c.51	CCDS11434.1	17																																																																																			PLEKHH3	-	NULL		0.697	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	G	NM_024927		40828531	-1	no_errors	ENST00000591022	ensembl	human	known	70_37	silent	SNP	1.000	A	A	40828531	G	A	40828531	2	1	168	1	0	0	0	0	0	0	0	1	12102	1281	45	1		1	PLEKHH3	17	40828531	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2726	40828531	40366679	338	32055										
WNK4	65266	genome.wustl.edu	37	chr17	40946853	40946853	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agccttctccacctcctcatCttctcctggaactcctttgt	4	17	4	0	rs554465446	byFrequency	TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:40946853C>G	ENST00000246914.5	+	14	2435	c.2414C>G	c.(2413-2415)tCt>tGt	p.S805C		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	805					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACCTCCTCATCTTCTCCTGGA	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													150	119	130					17																	40946853		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2414C>G	17.37:g.40946853C>G	ENSP00000246914:p.Ser805Cys		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S805C	ENST00000246914.5	37	c.2414	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032001	0.35893	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.72282	-0.64	5.58	2.35	0.29111	.	0.384195	0.21029	N	0.081366	T	0.59810	0.2221	L	0.27053	0.805	0.25993	N	0.982211	P;P;P	0.49253	0.921;0.871;0.871	P;B;B	0.50378	0.639;0.436;0.319	T	0.52124	-0.8617	10	0.54805	T	0.06	-12.8249	3.6507	0.08202	0.0:0.5161:0.1891:0.2948	.	805;805;805	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	C	805;577	ENSP00000246914:S805C	ENSP00000246914:S805C	S	+	2	0	WNK4	38200379	0.002000	0.14202	0.998000	0.56505	0.507000	0.33981	0.334000	0.19787	1.495000	0.48549	0.591000	0.81541	TCT	WNK4	-	NULL		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40946853	1	no_errors	ENST00000246914	ensembl	human	known	70_37	missense	SNP	0.799	G	G	40946853	C	G	40946853	3	3	168	1	0	0	0	0	1	0	0	0	17411	913	32	1	2468	1	WNK4	17	40946853	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	118322	40946853	40248357	339	32056										
AARSD1	100885848	genome.wustl.edu	37	chr17	41132190	41132190	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gggagagcagttgagaggaaGagagaacatgacctggcagc	17	6	0	5			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:41132190G>C	ENST00000453594.1	-	1	355	c.10C>G	c.(10-12)Ctt>Gtt	p.L4V	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.L4V|PTGES3L-AARSD1_ENST00000409103.1_5'Flank|PTGES3L_ENST00000409446.3_Missense_Mutation_p.L4V|PTGES3L-AARSD1_ENST00000360221.4_5'Flank|RP11-376M2.2_ENST00000587526.1_RNA|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.L4V|RUNDC1_ENST00000361677.1_5'Flank	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	4																	TTGAGAGGAAGAGAGAACATG	0.552																																																	0													17	20	19					17																	41132190		692	1591	2283	SO:0001583	missense	100885850				CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.10C>G	17.37:g.41132190G>C	ENSP00000394415:p.Leu4Val			Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core	p.L4V	ENST00000453594.1	37	c.10		17	.	.	.	.	.	.	.	.	.	.	G	6.444	0.450133	0.12223	.	.	ENSG00000108825	ENST00000409399;ENST00000421990;ENST00000453594;ENST00000409446;ENST00000451885	T;T	0.53857	0.6;0.6	4.86	-2.76	0.05896	.	.	.	.	.	T	0.27419	0.0673	N	0.08118	0	.	.	.	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.11792	-1.0573	8	0.87932	D	0	.	5.8749	0.18824	0.3531:0.2374:0.4096:0.0	.	4;4;4	E9PB15;B9A003;B4DI73	.;.;.	V	4	ENSP00000386621:L4V;ENSP00000409924:L4V	ENSP00000386621:L4V	L	-	1	0	AARSD1	38385716	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.279000	0.18771	-0.900000	0.03896	-2.996000	0.00077	CTT	PTGES3L-AARSD1	-	NULL		0.552	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	PTGES3L-AARSD1	HGNC	protein_coding		G	NM_001142653		41132190	-1	no_errors	ENST00000409399	ensembl	human	known	70_37	missense	SNP	0.000	C	C	41132190	G	C	41132190	3	2	168	1	0	0	0	0	1	0	0	0	21	942	33	1	1861	1	AARSD1	17	41132190	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	185337	41132190	40063020	340	32057										
BRCA1	672	genome.wustl.edu	37	chr17	41223131	41223131	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actttcaattggggaactttCaatgcagaggttgaagatgg	12	5	2	3	rs587782392		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:41223131C>T	ENST00000357654.3	-	15	4918	c.4800G>A	c.(4798-4800)ttG>ttA	p.L1600L	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Silent_p.L1304L|BRCA1_ENST00000468300.1_Silent_p.L496L|BRCA1_ENST00000352993.3_Silent_p.L458L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Silent_p.L1553L|BRCA1_ENST00000491747.2_Silent_p.L496L|BRCA1_ENST00000471181.2_Silent_p.L1621L|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591534.1_Silent_p.L91L|BRCA1_ENST00000351666.3_Silent_p.L417L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1600					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGAACTTTCAATGCAGAGG	0.473			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													144	140	141					17																	41223131		2203	4300	6503	SO:0001819	synonymous_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4800G>A	17.37:g.41223131C>T			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.L1621	ENST00000357654.3	37	c.4863	CCDS11453.1	17																																																																																			BRCA1	-	pirsf_BRCA1		0.473	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41223131	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	silent	SNP	0.918	T	T	41223131	C	T	41223131	2	4	168	1	0	0	0	0	0	0	0	1	1501	825	29	1		1	BRCA1	17	41223131	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	90941	41223131	39972079	341	32058										
PLCD3	113026	genome.wustl.edu	37	chr17	43196206	43196206	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcgttgagctcataggtctGaatgagctgctgggcgcggg	16	9	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:43196206G>A	ENST00000322765.5	-	5	1002	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	297					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TCATAGGTCTGAATGAGCTGC	0.677																																																	0													17	20	19					17																	43196206		1960	4114	6074	SO:0001587	stop_gained	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.889C>T	17.37:g.43196206G>A	ENSP00000313731:p.Gln297*		Q8TEC1|Q8TF37|Q96FL6	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.Q297*	ENST00000322765.5	37	c.889		17	.	.	.	.	.	.	.	.	.	.	G	35	5.414186	0.96092	.	.	ENSG00000161714	ENST00000322765	.	.	.	3.77	2.78	0.32641	.	0.328198	0.29451	N	0.012107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	12.458	0.55716	0.0:0.1706:0.8293:0.0	.	.	.	.	X	297	.	ENSP00000313731:Q297X	Q	-	1	0	PLCD3	40551732	1.000000	0.71417	0.964000	0.40570	0.701000	0.40568	4.511000	0.60462	0.896000	0.36366	0.462000	0.41574	CAG	PLCD3	-	pfam_PLipase_C_EF-hand-like		0.677	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		G	NM_133373		43196206	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	43196206	G	A	43196206	4	1	168	1	0	0	0	0	0	1	0	0	12056	1299	45	1	1523	1	PLCD3	17	43196206	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1973075	43196206	37999004	342	32059										
ARHGAP27	201176	genome.wustl.edu	37	chr17	43473916	43473916	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cacccggctcctctcgcgctCacacagcgcggccagcgcgc	11	21	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:43473916C>G	ENST00000428638.1	-	13	2109	c.2110G>C	c.(2110-2112)Gag>Cag	p.E704Q	ARHGAP27_ENST00000455881.1_Missense_Mutation_p.E363Q|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.E363Q|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.E336Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.E682Q|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.E677Q|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.E482Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	704	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CTCTCGCGCTCACACAGCGCG	0.746																																																	0													10	13	12					17																	43473916		2176	4213	6389	SO:0001583	missense	201176			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2110G>C	17.37:g.43473916C>G	ENSP00000403323:p.Glu704Gln		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.E704Q	ENST00000428638.1	37	c.2110		17	.	.	.	.	.	.	.	.	.	.	C	9.367	1.069554	0.20147	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	3.78	3.78	0.43462	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.998079	0.08111	N	0.996141	T	0.07683	0.0193	N	0.25890	0.77	0.80722	D	1	B;B	0.31459	0.022;0.324	B;B	0.26864	0.009;0.074	T	0.12915	-1.0529	10	0.02654	T	1	.	13.4899	0.61388	0.0:1.0:0.0:0.0	.	677;704	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	Q	482;363;336;682;704;677;363	ENSP00000432762:E482Q;ENSP00000366121:E363Q;ENSP00000431591:E336Q;ENSP00000433942:E682Q;ENSP00000403323:E704Q;ENSP00000409330:E677Q;ENSP00000408235:E363Q	ENSP00000366121:E363Q	E	-	1	0	ARHGAP27	40829699	0.036000	0.19791	0.994000	0.49952	0.702000	0.40608	0.920000	0.28705	2.113000	0.64589	0.305000	0.20034	GAG	ARHGAP27	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.746	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		C	NM_199282		43473916	-1	no_errors	ENST00000428638	ensembl	human	known	70_37	missense	SNP	0.980	G	G	43473916	C	G	43473916	3	3	168	1	0	0	0	0	1	0	0	0	876	835	29	1	579	1	ARHGAP27	17	43473916	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	277710	43473916	37721294	343	32060										
LRRC37A2	474170	genome.wustl.edu	37	chr17	44626600	44626600	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttttcatccttaggagacctGagtcctcaagaaaacccttt	6	11	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:44626600G>A	ENST00000576629.1	+	10	4590	c.4095G>A	c.(4093-4095)ctG>ctA	p.L1365L	ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Silent_p.L1365L|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1365						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TAGGAGACCTGAGTCCTCAAG	0.418																																																	0													17	27	24					17																	44626600		1912	4132	6044	SO:0001819	synonymous_variant	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4095G>A	17.37:g.44626600G>A			B7ZMC3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L1365	ENST00000576629.1	37	c.4095	CCDS42353.1	17																																																																																			LRRC37A2	-	NULL		0.418	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	G	NM_001006607		44626600	1	no_errors	ENST00000333412	ensembl	human	known	70_37	silent	SNP	0.000	A	A	44626600	G	A	44626600	2	1	168	1	0	0	0	0	0	0	0	1	9015	1277	45	1		1	LRRC37A2	17	44626600	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1152684	44626600	36568610	344	32061										
ITGB3	3690	genome.wustl.edu	37	chr17	45369886	45369886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agatcacgggcaagtactgcGagtgtgacgacttctcctgt	12	10	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:45369886G>A	ENST00000559488.1	+	10	1658	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	ITGB3_ENST00000560629.1_Missense_Mutation_p.R536Q|ITGB3_ENST00000435993.2_Missense_Mutation_p.E501K	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	548	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CAAGTACTGCGAGTGTGACGA	0.612																																																	0													127	115	119					17																	45369886		2203	4300	6503	SO:0001583	missense	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1642G>A	17.37:g.45369886G>A	ENSP00000452786:p.Glu548Lys		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.E548K	ENST00000559488.1	37	c.1642	CCDS11511.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.390720	0.95988	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.99319	-5.74	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	M	0.91249	3.19	0.80722	D	1	D	0.63880	0.993	B	0.42916	0.402	D	0.99918	1.1235	10	0.87932	D	0	.	17.8711	0.88811	0.0:0.0:1.0:0.0	.	548	P05106	ITB3_HUMAN	K	548;501	ENSP00000407801:E501K	ENSP00000262017:E548K	E	+	1	0	C17orf57	42724885	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.005000	0.88553	2.518000	0.84900	0.462000	0.41574	GAG	ITGB3	-	pirsf_Integrin_bsu		0.612	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	HGNC	protein_coding	OTTHUMT00000416111.3	G	NM_000212		45369886	1	no_errors	ENST00000262017	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45369886	G	A	45369886	3	1	168	1	0	0	0	0	1	0	0	0	7915	1059	37	1	1680	1	ITGB3	17	45369886	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	743286	45369886	35825324	345	32062										
MYST2	11143	genome.wustl.edu	37	chr17	47869285	47869285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttcagatggaaccgaagattCcgatttttctacagatctcg	8	9	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:47869285C>T	ENST00000259021.4	+	2	333	c.53C>T	c.(52-54)tCc>tTc	p.S18F	KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000454930.2_Missense_Mutation_p.S18F|KAT7_ENST00000424009.2_Missense_Mutation_p.S18F|KAT7_ENST00000510819.1_Missense_Mutation_p.S18F|FAM117A_ENST00000514018.1_5'Flank|KAT7_ENST00000509773.1_Missense_Mutation_p.S18F|KAT7_ENST00000435742.2_5'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	18	Ser-rich.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S18F(1)									ACCGAAGATTCCGATTTTTCT	0.473																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											159	146	150					17																	47869285		2203	4300	6503	SO:0001583	missense	11143			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.53C>T	17.37:g.47869285C>T	ENSP00000259021:p.Ser18Phe		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.S18F	ENST00000259021.4	37	c.53	CCDS11554.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.064386	0.93898	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.71674	0.99;0.99;0.99;0.998;0.994	D;D;D;D;D	0.78314	0.962;0.962;0.962;0.991;0.989	T	0.77343	-0.2623	9	0.87932	D	0	-11.0569	19.433	0.94779	0.0:1.0:0.0:0.0	.	18;18;18;18;18	B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;KAT7_HUMAN;.	F	18	.	ENSP00000259021:S18F	S	+	2	0	KAT7	45224284	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.479000	0.81095	2.692000	0.91855	0.650000	0.86243	TCC	KAT7	-	NULL		0.473	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	HGNC	protein_coding	OTTHUMT00000366032.1	C	NM_007067		47869285	1	no_errors	ENST00000259021	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47869285	C	T	47869285	3	4	168	1	0	0	0	0	1	0	0	0	10126	855	30	1	59	1	MYST2	17	47869285	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2499399	47869285	33325925	346	32063										
SGCA	6442	genome.wustl.edu	37	chr17	48246517	48246517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgaagatggtggcatcccccGatagccacgcccgctgtgcc	12	15	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:48246517G>A	ENST00000262018.3	+	6	685	c.649G>A	c.(649-651)Gat>Aat	p.D217N	SGCA_ENST00000344627.6_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_Missense_Mutation_p.D115N	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	217					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GGCATCCCCCGATAGCCACGC	0.572											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97	84	89					17																	48246517		2203	4300	6503	SO:0001583	missense	6442			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"50kD DAG", "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)", "adhalin (limb girdle muscular dystrophy 2D)"	600119	"sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.649G>A	17.37:g.48246517G>A	ENSP00000262018:p.Asp217Asn	953	A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.D217N	ENST00000262018.3	37	c.649	CCDS32679.1	17	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660134	0.67586	.	.	ENSG00000108823	ENST00000262018;ENST00000451235	D;D	0.97620	-4.46;-4.46	5.14	4.16	0.48862	.	0.481828	0.21665	N	0.070960	D	0.93347	0.7879	L	0.44542	1.39	0.25064	N	0.991048	D;D	0.53151	0.958;0.958	B;B	0.41917	0.353;0.37	D	0.86937	0.2077	10	0.19147	T	0.46	-25.066	9.0433	0.36331	0.1629:0.0:0.8371:0.0	.	115;217	B7Z1L1;Q16586	.;SGCA_HUMAN	N	217;115	ENSP00000262018:D217N;ENSP00000390371:D115N	ENSP00000262018:D217N	D	+	1	0	SGCA	45601516	0.978000	0.34361	0.961000	0.40146	0.901000	0.52897	1.961000	0.40432	2.389000	0.81357	0.462000	0.41574	GAT	SGCA	-	pfam_Sarcoglycan_2		0.572	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCA	HGNC	protein_coding	OTTHUMT00000366841.1	G	NM_000023		48246517	1	no_errors	ENST00000262018	ensembl	human	known	70_37	missense	SNP	0.567	A	A	48246517	G	A	48246517	3	1	168	1	0	0	0	0	1	0	0	0	14229	1058	37	1	671	1	SGCA	17	48246517	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	377232	48246517	32948693	347	32064										
COL1A1	1277	genome.wustl.edu	37	chr17	48264089	48264089	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tctgggctccggatgttctcGatctgctggctcaggctctt	12	12	5	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:48264089G>A	ENST00000225964.5	-	48	3844	c.3726C>T	c.(3724-3726)atC>atT	p.I1242I		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1242	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGATGTTCTCGATCTGCTGGC	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0													123	125	125					17																	48264089		2203	4300	6503	SO:0001819	synonymous_variant	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3726C>T	17.37:g.48264089G>A			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.I1242	ENST00000225964.5	37	c.3726	CCDS11561.1	17																																																																																			COL1A1	-	smart_Fib_collagen_C		0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	G			48264089	-1	no_errors	ENST00000225964	ensembl	human	known	70_37	silent	SNP	0.985	A	A	48264089	G	A	48264089	2	1	168	1	0	0	0	0	0	0	0	1	3682	1048	37	1		1	COL1A1	17	48264089	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	17572	48264089	32931121	348	32065										
TUBD1	51174	genome.wustl.edu	37	chr17	57941134	57941134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcatatttgctaaaggcccGctgggttttccacacgttga	9	11	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:57941134G>A	ENST00000592426.1	-	7	1150	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	TUBD1_ENST00000376094.4_Missense_Mutation_p.R282W|TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000346141.6_Missense_Mutation_p.R130W|TUBD1_ENST00000325752.3_Missense_Mutation_p.R384W|TUBD1_ENST00000340993.6_Missense_Mutation_p.R329W|TUBD1_ENST00000539018.1_Missense_Mutation_p.R168W			Q9UJT1	TBD_HUMAN	tubulin, delta 1	384					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CTAAAGGCCCGCTGGGTTTTC	0.423																																																	0													71	71	71					17																	57941134		2203	4300	6503	SO:0001583	missense	51174			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1150C>T	17.37:g.57941134G>A	ENSP00000468518:p.Arg384Trp		B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.R384W	ENST00000592426.1	37	c.1150	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	g	18.78	3.697103	0.68386	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000376094;ENST00000539018	T;T;T;T	0.81163	-1.21;-0.9;-1.46;-0.99	5.59	2.39	0.29439	Tubulin/FtsZ, C-terminal (1);	0.370055	0.29529	N	0.011897	D	0.88258	0.6388	M	0.75447	2.3	0.38669	D	0.952253	D;D;D;D;D	0.89917	1.0;0.999;0.996;1.0;0.998	D;P;P;D;P	0.70016	0.967;0.836;0.625;0.921;0.776	D	0.89616	0.3845	10	0.66056	D	0.02	-0.6802	15.2313	0.73390	0.0:0.0:0.3458:0.6542	.	130;329;282;329;384	Q9UJT1-3;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	W	384;329;130;282;168	ENSP00000320797:R384W;ENSP00000342399:R329W;ENSP00000342561:R130W;ENSP00000365262:R282W	ENSP00000320797:R384W	R	-	1	2	TUBD1	55295916	0.967000	0.33354	0.999000	0.59377	0.994000	0.84299	1.765000	0.38481	0.360000	0.24265	0.549000	0.68633	CGG	TUBD1	-	superfamily_Tub_FtsZ_C		0.423	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	G	NM_016261		57941134	-1	no_errors	ENST00000325752	ensembl	human	known	70_37	missense	SNP	0.788	A	A	57941134	G	A	57941134	3	1	168	1	0	0	0	0	1	0	0	0	16793	1086	38	2	219	2	TUBD1	17	57941134	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	9677045	57941134	23254076	349	32066										
BCAS3	54828	genome.wustl.edu	37	chr17	59161923	59161923	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cacagtgattgatgctgcctCaggtagaaaaccacctctga	9	11	2	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:59161923C>G	ENST00000390652.5	+	23	2499	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	BCAS3_ENST00000588462.1_Nonsense_Mutation_p.S823*|BCAS3_ENST00000585744.1_Nonsense_Mutation_p.S594*|BCAS3_ENST00000588874.1_Nonsense_Mutation_p.S579*|BCAS3_ENST00000589222.1_Nonsense_Mutation_p.S808*|BCAS3_ENST00000408905.3_Nonsense_Mutation_p.S808*|BCAS3_ENST00000407086.3_Nonsense_Mutation_p.S808*	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATGCTGCCTCAGGTAGAAAA	0.478																																																	0													62	62	62					17																	59161923		1918	4150	6068	SO:0001587	stop_gained	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2468C>G	17.37:g.59161923C>G	ENSP00000375067:p.Ser823*			Nonsense_Mutation	SNP	pfam_BCAS3,pfam_WD40_repeat	p.S823*	ENST00000390652.5	37	c.2468	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	C	40	7.925185	0.98565	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	.	.	.	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	823;808;808	.	ENSP00000375067:S823X	S	+	2	0	BCAS3	56516705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.267000	0.78462	2.809000	0.96659	0.655000	0.94253	TCA	BCAS3	-	NULL		0.478	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	C	NM_017679		59161923	1	no_errors	ENST00000390652	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	59161923	C	G	59161923	4	3	168	1	0	0	0	0	0	1	0	0	1353	838	29	1	2554	1	BCAS3	17	59161923	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1220789	59161923	22033287	350	32067										
GNA13	10672	genome.wustl.edu	37	chr17	63052601	63052601	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	taggtcttttcccgagacagGcatttgtcgatctccttgga	10	10	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:63052601G>T	ENST00000439174.2	-	1	356	c.111C>A	c.(109-111)tgC>tgA	p.C37*	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	37					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CCCGAGACAGGCATTTGTCGA	0.627																																																	0													137	127	130					17																	63052601		2203	4300	6503	SO:0001587	stop_gained	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.111C>A	17.37:g.63052601G>T	ENSP00000400717:p.Cys37*		B2R977|B7Z7R0|F5H1G8|Q8TD70	Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.C37*	ENST00000439174.2	37	c.111	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.300082	0.97453	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	.	.	.	3.69	0.254	0.15557	.	0.356526	0.26836	U	0.022241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	6.4863	0.22091	0.1762:0.1468:0.677:0.0	.	.	.	.	X	37	.	ENSP00000239138:C37X	C	-	3	2	GNA13	60483063	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	1.129000	0.31381	0.064000	0.16427	0.313000	0.20887	TGC	GNA13	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.627	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	G	NM_006572		63052601	-1	no_errors	ENST00000439174	ensembl	human	known	70_37	nonsense	SNP	0.883	T	T	63052601	G	T	63052601	4	4	168	1	0	0	0	0	0	1	0	0	6520	1195	42	4	1038	4	GNA13	17	63052601	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	3890678	63052601	18142609	351	32068										
BPTF	2186	genome.wustl.edu	37	chr17	65889808	65889808	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	attagaaaacaacatcccttCatcctttcttcatcccaact	1	14	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:65889808C>T	ENST00000321892.4	+	8	2817	c.2756C>T	c.(2755-2757)tCa>tTa	p.S919L	BPTF_ENST00000335221.5_Missense_Mutation_p.S919L|BPTF_ENST00000424123.3_Missense_Mutation_p.S780L|BPTF_ENST00000306378.6_Missense_Mutation_p.S793L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	919	Interaction with MAZ.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACATCCCTTCATCCTTTCTT	0.368																																																	0													67	68	67					17																	65889808		2201	4297	6498	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2756C>T	17.37:g.65889808C>T	ENSP00000315454:p.Ser919Leu		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S919L	ENST00000321892.4	37	c.2756		17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601369	0.46423	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.62105	0.05;0.06;0.06	5.61	5.61	0.85477	.	.	.	.	.	T	0.48409	0.1498	N	0.20986	0.625	0.40625	D	0.981803	B;P;P	0.41848	0.278;0.481;0.763	B;B;B	0.33960	0.039;0.164;0.173	T	0.50110	-0.8866	9	0.33141	T	0.24	-10.3001	20.0016	0.97412	0.0:1.0:0.0:0.0	.	919;793;919	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	L	793;919;919;717	ENSP00000307208:S793L;ENSP00000334351:S919L;ENSP00000315454:S919L	ENSP00000307208:S793L	S	+	2	0	BPTF	63320270	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.863000	0.62983	2.802000	0.96397	0.655000	0.94253	TCA	BPTF	-	NULL		0.368	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65889808	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.997	T	T	65889808	C	T	65889808	3	4	168	1	0	0	0	0	1	0	0	0	1498	838	29	1	2786	1	BPTF	17	65889808	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2837207	65889808	15305402	352	32069										
LLGL2	3993	genome.wustl.edu	37	chr17	73566530	73566530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtcattccgccggatgcgtcGgagccgggtgtccagccgga	16	13	1	0	rs199973131		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:73566530G>A	ENST00000392550.3	+	16	2093	c.1976G>A	c.(1975-1977)cGg>cAg	p.R659Q	LLGL2_ENST00000167462.5_Missense_Mutation_p.R659Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.R659Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	659					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGGATGCGTCGGAGCCGGGTG	0.692													G|||	1	0.000199681	0	0	5008	,	,		14258	0		0	False		,,,				2504	0.001																0													23	20	21					17																	73566530		2194	4292	6486	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1976G>A	17.37:g.73566530G>A	ENSP00000376333:p.Arg659Gln		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.R659Q	ENST00000392550.3	37	c.1976	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268538	0.40095	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.42900	0.96;0.96	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	M	0.69823	2.125	0.46336	D	0.998991	B;D;D;P;B	0.64830	0.446;0.99;0.994;0.644;0.169	B;P;P;B;B	0.53593	0.22;0.542;0.73;0.147;0.03	T	0.62553	-0.6830	10	0.54805	T	0.06	8.6368	18.2389	0.89960	0.0:0.0:1.0:0.0	.	286;648;648;659;659	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	Q	659;659;648	ENSP00000167462:R659Q;ENSP00000376333:R659Q	ENSP00000167462:R659Q	R	+	2	0	LLGL2	71078125	0.978000	0.34361	0.806000	0.32338	0.137000	0.21094	4.908000	0.63307	2.314000	0.78098	0.549000	0.68633	CGG	LLGL2	-	NULL		0.692	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	G	NM_004524		73566530	1	no_errors	ENST00000392550	ensembl	human	known	70_37	missense	SNP	0.927	A	A	73566530	G	A	73566530	3	1	168	1	0	0	0	0	1	0	0	0	8855	1116	39	2	2069	2	LLGL2	17	73566530	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7676722	73566530	7628680	353	32070										
ZNF750	79755	genome.wustl.edu	37	chr17	80789552	80789553	+	Frame_Shift_Ins	INS	-	-	G													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggcgagctcccagccagcaINSggtaaggcgagtagatggtg							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr17:80789552_80789553insG	ENST00000269394.3	-	2	1611_1612	c.778_779insC	c.(778-780)ctgfs	p.L260fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	260					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCAGCCAGCAGGTAAGGCGAG	0.619																																																	0																																										SO:0001589	frameshift_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.779dupC	17.37:g.80789554_80789554dupG	ENSP00000269394:p.Leu260fs		Q9H899	Frame_Shift_Ins	INS	NULL	p.L260fs	ENST00000269394.3	37	c.779_778	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.619	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	NM_024702		80789553	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	frame_shift_ins	INS	0.484:0.793	G	G	80789553	-	G	80789552	7	5	168	1	0	1	1	0	0	0	0	0	18162	188	7	0	1400	0	ZNF750	17	80789552	Frame_Shift_Ins	INS	-	TCGA-LP-A4AV-01A-11D-A243-09	7223022	80789552	405658	354	32071										
LAMA1	284217	genome.wustl.edu	37	chr18	7011412	7011412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggcctggtagtaaaccccctCggtcgtgcccctcaagttac	10	15	1	0	rs368852040		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:7011412C>T	ENST00000389658.3	-	25	3667	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1192	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TAAACCCCCTCGGTCGTGCCC	0.597																																																	0								C	LYS/GLU	0,4406		0,0,2203	28	29	29		3574	-0.3	0	18		29	1,8597		0,1,4298	no	missense	LAMA1	NM_005559.3	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1192/3076	7011412	1,13003	2203	4299	6502	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3574G>A	18.37:g.7011412C>T	ENSP00000374309:p.Glu1192Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1192K	ENST00000389658.3	37	c.3574	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	7.289	0.610658	0.14066	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.17528	2.27	5.87	-0.303	0.12792	Laminin B type IV (1);	0.329441	0.28583	N	0.014839	T	0.10508	0.0257	L	0.42581	1.335	0.09310	N	0.999998	B	0.20988	0.05	B	0.12837	0.008	T	0.41413	-0.9510	10	0.07644	T	0.81	.	8.2861	0.31930	0.0:0.5312:0.2936:0.1752	.	1192	P25391	LAMA1_HUMAN	K	1192	ENSP00000374309:E1192K	ENSP00000374309:E1192K	E	-	1	0	LAMA1	7001412	0.004000	0.15560	0.039000	0.18376	0.809000	0.45718	0.086000	0.14935	-0.108000	0.12066	0.643000	0.83706	GAG	LAMA1	-	pfscan_Laminin_B_type_IV		0.597	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		7011412	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	0.022	T	T	7011412	C	T	7011412	3	4	168	1	0	0	0	0	1	0	0	0	8625	893	31	1	5809	1	LAMA1	18	7011412	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09		7011412	71065836	355	32072										
DSG1	1828	genome.wustl.edu	37	chr18	28923956	28923956	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aattgaatgcattgacaactCaggtaagaaaaaagaatttg	8	4	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:28923956C>T	ENST00000257192.4	+	13	2101	c.1889C>T	c.(1888-1890)tCa>tTa	p.S630L	RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_5'UTR|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	630					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATTGACAACTCAGGTAAGAAA	0.289																																																	0													103	96	99					18																	28923956		2203	4296	6499	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1889C>T	18.37:g.28923956C>T	ENSP00000257192:p.Ser630Leu		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin	p.S630L	ENST00000257192.4	37	c.1889	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844752	0.51164	.	.	ENSG00000134760	ENST00000257192	T	0.57752	0.38	4.98	4.1	0.47936	.	0.681526	0.13440	N	0.387799	T	0.42359	0.1199	L	0.41492	1.28	0.80722	D	1	P	0.41475	0.751	B	0.37731	0.257	T	0.17107	-1.0380	10	0.26408	T	0.33	.	11.4966	0.50413	0.0:0.8193:0.1807:0.0	.	630	Q02413	DSG1_HUMAN	L	630	ENSP00000257192:S630L	ENSP00000257192:S630L	S	+	2	0	DSG1	27177954	0.967000	0.33354	0.926000	0.36857	0.874000	0.50279	3.366000	0.52343	1.456000	0.47831	0.655000	0.94253	TCA	DSG1	-	NULL		0.289	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	C	NM_001942		28923956	1	no_errors	ENST00000257192	ensembl	human	known	70_37	missense	SNP	0.892	T	T	28923956	C	T	28923956	3	4	168	1	0	0	0	0	1	0	0	0	4786	838	29	1	1939	1	DSG1	18	28923956	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	21912544	28923956	49153292	356	32073										
DSG3	1830	genome.wustl.edu	37	chr18	29036985	29036985	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	caatatgatgaagaagagatGactatgcaacaagctaaaag	9	5	0	5			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:29036985G>A	ENST00000257189.4	+	3	197	c.114G>A	c.(112-114)atG>atA	p.M38I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	38					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAGAAGAGATGACTATGCAAC	0.348																																																	0													170	169	169					18																	29036985		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.114G>A	18.37:g.29036985G>A	ENSP00000257189:p.Met38Ile		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.M38I	ENST00000257189.4	37	c.114	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	7.307	0.614248	0.14129	.	.	ENSG00000134757	ENST00000257189	T	0.57907	0.37	4.95	-5.28	0.02755	.	1.127780	0.06829	N	0.793545	T	0.28400	0.0702	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15350	-1.0440	10	0.17369	T	0.5	.	2.5267	0.04693	0.308:0.2237:0.3586:0.1097	.	38	P32926	DSG3_HUMAN	I	38	ENSP00000257189:M38I	ENSP00000257189:M38I	M	+	3	0	DSG3	27290983	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.149000	0.10204	-1.195000	0.02680	-0.355000	0.07637	ATG	DSG3	-	NULL		0.348	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29036985	1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.000	A	A	29036985	G	A	29036985	3	1	168	1	0	0	0	0	1	0	0	0	4788	1290	45	1	124	1	DSG3	18	29036985	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	113029	29036985	49040263	357	32074										
ASXL3	80816	genome.wustl.edu	37	chr18	31322918	31322918	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagtctccaaacctgagtctCgagcatccactagcacatct	6	15	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:31322918C>T	ENST00000269197.5	+	12	3106	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1036					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTGAGTCTCGAGCATCCAC	0.507																																																	0													29	32	31					18																	31322918		1906	4134	6040	SO:0001587	stop_gained	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3106C>T	18.37:g.31322918C>T	ENSP00000269197:p.Arg1036*		Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.R1036*	ENST00000269197.5	37	c.3106	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	38	7.096152	0.98059	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.9	3.94	0.45596	.	1.506370	0.04208	N	0.331143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4731	0.67529	0.4007:0.5993:0.0:0.0	.	.	.	.	X	1036	.	ENSP00000269197:R1036X	R	+	1	2	ASXL3	29576916	0.815000	0.29118	0.714000	0.30535	0.826000	0.46750	2.348000	0.44045	1.467000	0.48044	0.650000	0.86243	CGA	ASXL3	-	NULL		0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	C			31322918	1	no_errors	ENST00000269197	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	31322918	C	T	31322918	4	4	168	1	0	0	0	0	0	1	0	0	1069	876	31	1	3152	1	ASXL3	18	31322918	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2285933	31322918	46754330	358	32075										
MALT1	10892	genome.wustl.edu	37	chr18	56401561	56401561	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atgactacgatgataccattCcaatcttggatgcactaaaa	6	9	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:56401561C>G	ENST00000348428.3	+	12	1681	c.1423C>G	c.(1423-1425)Cca>Gca	p.P475A	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.P464A	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	475	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TGATACCATTCCAATCTTGGA	0.358			T	BIRC3	MALT																																			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0													120	103	109					18																	56401561		2203	4300	6503	SO:0001583	missense	10892				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1423C>G	18.37:g.56401561C>G	ENSP00000319279:p.Pro475Ala		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like	p.P475A	ENST00000348428.3	37	c.1423	CCDS11967.1	18	.	.	.	.	.	.	.	.	.	.	C	6.417	0.445150	0.12164	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.40476	1.03;1.03	5.88	5.88	0.94601	Peptidase C14, caspase catalytic (1);	0.158908	0.56097	D	0.000021	T	0.24122	0.0584	N	0.21194	0.64	0.58432	D	0.999999	P;P	0.39443	0.624;0.674	B;B	0.28465	0.054;0.09	T	0.06844	-1.0804	10	0.22109	T	0.4	.	12.3534	0.55161	0.0:0.9222:0.0:0.0778	.	464;475	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	A	475;464	ENSP00000319279:P475A;ENSP00000304161:P464A	ENSP00000304161:P464A	P	+	1	0	MALT1	54552541	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	3.802000	0.55553	2.779000	0.95612	0.650000	0.86243	CCA	MALT1	-	pfam_Pept_C14_cat		0.358	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MALT1	HGNC	protein_coding	OTTHUMT00000256132.2	C			56401561	1	no_errors	ENST00000348428	ensembl	human	known	70_37	missense	SNP	0.998	G	G	56401561	C	G	56401561	3	3	168	1	0	0	0	0	1	0	0	0	9225	855	30	1	1469	1	MALT1	18	56401561	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	25078643	56401561	21675687	359	32076										
CNDP1	84735	genome.wustl.edu	37	chr18	72250867	72250867	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gccaaaatgttccaggagatCgtccacaagagcgtggtgct	12	10	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:72250867C>A	ENST00000358821.3	+	11	1608	c.1380C>A	c.(1378-1380)atC>atA	p.I460I	CNDP1_ENST00000582365.1_Silent_p.I417I	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	460						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCCAGGAGATCGTCCACAAGA	0.463																																					Melanoma(32;1029 1042 25286 38395 44237)												0													177	145	156					18																	72250867		2203	4300	6503	SO:0001819	synonymous_variant	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1380C>A	18.37:g.72250867C>A			Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.I460	ENST00000358821.3	37	c.1380	CCDS12007.1	18																																																																																			CNDP1	-	pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1		0.463	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP1	HGNC	protein_coding	OTTHUMT00000256326.1	C	NM_032649		72250867	1	no_errors	ENST00000358821	ensembl	human	known	70_37	silent	SNP	0.000	A	A	72250867	C	A	72250867	2	1	168	1	0	0	0	0	0	0	0	1	3598	874	31	3		3	CNDP1	18	72250867	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	15849306	72250867	5826381	360	32077										
ZNF407	55628	genome.wustl.edu	37	chr18	72345785	72345785	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggtaaaaagaatgctggctCagcagtgaccatgtcagatg	12	7	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr18:72345785C>T	ENST00000299687.5	+	1	2810	c.2810C>T	c.(2809-2811)tCa>tTa	p.S937L	ZNF407_ENST00000577538.1_Missense_Mutation_p.S937L|ZNF407_ENST00000582337.1_Missense_Mutation_p.S937L|ZNF407_ENST00000309902.6_Missense_Mutation_p.S937L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	937					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AATGCTGGCTCAGCAGTGACC	0.458																																																	0													60	61	60					18																	72345785		1917	4129	6046	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2810C>T	18.37:g.72345785C>T	ENSP00000299687:p.Ser937Leu		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.S937L	ENST00000299687.5	37	c.2810	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	C	4.662	0.123112	0.08931	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10763	2.84;3.26	5.69	-0.234	0.13074	.	1.473130	0.04728	N	0.420549	T	0.08223	0.0205	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.001	B;B;B	0.11329	0.006;0.004;0.002	T	0.41251	-0.9519	10	0.42905	T	0.14	.	7.6652	0.28426	0.0:0.4498:0.1036:0.4465	.	937;937;937	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	L	937	ENSP00000299687:S937L;ENSP00000310359:S937L	ENSP00000299687:S937L	S	+	2	0	ZNF407	70474773	0.000000	0.05858	0.001000	0.08648	0.113000	0.19764	-0.367000	0.07553	-0.814000	0.04352	0.455000	0.32223	TCA	ZNF407	-	NULL		0.458	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	C	NM_017757		72345785	1	no_errors	ENST00000299687	ensembl	human	known	70_37	missense	SNP	0.000	T	T	72345785	C	T	72345785	3	4	168	1	0	0	0	0	1	0	0	0	17917	838	29	1	2812	1	ZNF407	18	72345785	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	94918	72345785	5731463	361	32078										
MUM1	84939	genome.wustl.edu	37	chr19	1360804	1360804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctcggcctgctcagagcctgGagaatgccctgcgaaaaaga	12	12	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:1360804G>A	ENST00000415183.3	+	4	913	c.887G>A	c.(886-888)gGa>gAa	p.G296E	MUM1_ENST00000344663.3_Missense_Mutation_p.G296E|MUM1_ENST00000591806.1_Missense_Mutation_p.G296E|MUM1_ENST00000311401.5_Missense_Mutation_p.G227E			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	295	Pro-rich.				chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGAGCCTGGAGAATGCCCT	0.706																																																	0													10	11	11					19																	1360804		2190	4282	6472	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.887G>A	19.37:g.1360804G>A	ENSP00000394925:p.Gly296Glu		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.G296E	ENST00000415183.3	37	c.887		19	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357028	0.24598	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.25085	1.84;1.83;1.82	3.71	-2.51	0.06365	.	5.527050	0.00166	N	0.000003	T	0.14743	0.0356	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17038	0.02;0.02;0.013;0.008	B;B;B;B	0.21917	0.011;0.018;0.037;0.016	T	0.15636	-1.0430	10	0.23302	T	0.38	.	5.3019	0.15783	0.3555:0.1536:0.4909:0.0	.	296;296;227;295	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	E	296;227;296	ENSP00000345789:G296E;ENSP00000309135:G227E;ENSP00000394925:G296E	ENSP00000309135:G227E	G	+	2	0	MUM1	1311804	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.918000	0.04021	-0.435000	0.07264	0.484000	0.47621	GGA	MUM1	-	NULL		0.706	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	G	NM_032853		1360804	1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1360804	G	A	1360804	3	1	168	1	0	0	0	0	1	0	0	0	10008	1174	41	1	901	1	MUM1	19	1360804	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		1360804	57768179	362	32079										
STAP2	55620	genome.wustl.edu	37	chr19	4324496	4324496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgaactgactggcagcttcCtgcccaagccaccattaaag	8	14	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:4324496C>T	ENST00000594605.1	-	12	1226	c.1103G>A	c.(1102-1104)aGg>aAg	p.R368K	STAP2_ENST00000597593.1_5'Flank|STAP2_ENST00000600324.1_Missense_Mutation_p.R414K	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	368						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAGCTTCCTGCCCAAGCC	0.612																																																	0													23	21	22					19																	4324496		2155	4178	6333	SO:0001583	missense	55620			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.1103G>A	19.37:g.4324496C>T	ENSP00000471052:p.Arg368Lys		A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.R414K	ENST00000594605.1	37	c.1241	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	C	3.755	-0.050699	0.07407	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	3.39	-0.0178	0.13967	.	0.436964	0.17508	N	0.171737	T	0.22085	0.0532	N	0.13043	0.29	0.22851	N	0.99865	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.001	T	0.16394	-1.0404	9	0.87932	D	0	-8.314	5.6784	0.17761	0.0:0.626:0.0:0.374	.	414;368	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	K	414;368	.	ENSP00000317912:R414K	R	-	2	0	STAP2	4275496	0.013000	0.17824	0.469000	0.27204	0.018000	0.09664	-0.452000	0.06787	-0.001000	0.14495	0.500000	0.49745	AGG	STAP2	-	NULL		0.612	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2	C	NM_001013841		4324496	-1	no_errors	ENST00000314714	ensembl	human	known	70_37	missense	SNP	0.738	T	T	4324496	C	T	4324496	3	4	168	1	0	0	0	0	1	0	0	0	15283	681	24	4	116	4	STAP2	19	4324496	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2963692	4324496	54804487	363	32080										
PLIN4	729359	genome.wustl.edu	37	chr19	4513178	4513178	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agacggtgtccttggtacctGttaggacagtcttactggtg	13	8	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:4513178G>C	ENST00000301286.3	-	3	751	c.752C>G	c.(751-753)aCa>aGa	p.T251R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	251	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTTGGTACCTGTTAGGACAGT	0.557																																																	0													98	107	104					19																	4513178		2055	4179	6234	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.752C>G	19.37:g.4513178G>C	ENSP00000301286:p.Thr251Arg		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.T251R	ENST00000301286.3	37	c.752	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191528	0.58017	.	.	ENSG00000167676	ENST00000301286	T	0.10668	2.85	4.61	-0.435	0.12279	.	1.343930	0.05221	N	0.508494	T	0.24736	0.0600	M	0.77616	2.38	0.09310	N	1	D	0.71674	0.998	P	0.61722	0.893	T	0.33445	-0.9868	10	0.16896	T	0.51	-4.899	4.6915	0.12783	0.362:0.1532:0.4848:0.0	.	251	Q96Q06	PLIN4_HUMAN	R	251	ENSP00000301286:T251R	ENSP00000301286:T251R	T	-	2	0	PLIN4	4464178	0.004000	0.15560	0.001000	0.08648	0.461000	0.32589	0.386000	0.20702	0.050000	0.15949	0.561000	0.74099	ACA	PLIN4	-	superfamily_Ankyrin_rpt-contain_dom		0.557	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	G	XM_170901		4513178	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.000	C	C	4513178	G	C	4513178	3	2	168	1	0	0	0	0	1	0	0	0	12116	1377	48	4	3337	4	PLIN4	19	4513178	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	188682	4513178	54615805	364	32081										
C3	718	genome.wustl.edu	37	chr19	6679458	6679458	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcatcacggcagagcttgttCagctttccatcctccttttc	6	14	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:6679458C>T	ENST00000245907.6	-	37	4598	c.4506G>A	c.(4504-4506)ctG>ctA	p.L1502L	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1502					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGAGCTTGTTCAGCTTTCCAT	0.562																																																	0													188	177	181					19																	6679458		2203	4300	6503	SO:0001819	synonymous_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4506G>A	19.37:g.6679458C>T			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.L1502	ENST00000245907.6	37	c.4506	CCDS32883.1	19																																																																																			C3	-	superfamily_A-macroglobulin_rcpt-bd		0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6679458	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	silent	SNP	0.005	T	T	6679458	C	T	6679458	2	4	168	1	0	0	0	0	0	0	0	1	2209	813	29	1		1	C3	19	6679458	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2166280	6679458	52449525	365	32082										
MUC16	94025	genome.wustl.edu	37	chr19	9070110	9070110	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cccttaatccaggaatcaaaGaggatgttgattcagtctga	9	8	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9070110G>C	ENST00000397910.4	-	3	17539	c.17336C>G	c.(17335-17337)tCt>tGt	p.S5779C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5781	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAATCAAAGAGGATGTTGA	0.463																																																	0													154	144	147					19																	9070110		1976	4170	6146	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17336C>G	19.37:g.9070110G>C	ENSP00000381008:p.Ser5779Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5779C	ENST00000397910.4	37	c.17336	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.169	-0.390375	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.68	0.528	0.17089	.	.	.	.	.	T	0.05364	0.0142	L	0.50333	1.59	.	.	.	D	0.71674	0.998	P	0.52514	0.701	T	0.31052	-0.9957	8	0.87932	D	0	.	5.042	0.14463	0.0:0.0:0.6491:0.3509	.	5779	B5ME49	.	C	5779	ENSP00000381008:S5779C	ENSP00000381008:S5779C	S	-	2	0	MUC16	8931110	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.629000	0.24538	0.258000	0.21686	0.442000	0.29010	TCT	MUC16	-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9070110	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.001	C	C	9070110	G	C	9070110	3	2	168	1	0	0	0	0	1	0	0	0	9996	942	33	1	26515	1	MUC16	19	9070110	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2390652	9070110	50058873	366	32083			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9070263	9070263	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aagattgtgattcatgtccaGaaatggaggtccccacgttg	11	8	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9070263G>C	ENST00000397910.4	-	3	17386	c.17183C>G	c.(17182-17184)tCt>tGt	p.S5728C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5730	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCATGTCCAGAAATGGAGGT	0.498																																																	0													147	142	144					19																	9070263		2086	4214	6300	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17183C>G	19.37:g.9070263G>C	ENSP00000381008:p.Ser5728Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5728C	ENST00000397910.4	37	c.17183	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.350	0.064357	0.08388	.	.	ENSG00000181143	ENST00000397910	T	0.32023	1.47	1.73	1.73	0.24493	.	.	.	.	.	T	0.41949	0.1181	L	0.48642	1.525	.	.	.	D	0.71674	0.998	D	0.68353	0.957	T	0.52638	-0.8549	8	0.87932	D	0	.	6.9277	0.24424	0.0:0.0:1.0:0.0	.	5728	B5ME49	.	C	5728	ENSP00000381008:S5728C	ENSP00000381008:S5728C	S	-	2	0	MUC16	8931263	0.004000	0.15560	0.001000	0.08648	0.017000	0.09413	1.365000	0.34182	1.289000	0.44618	0.462000	0.41574	TCT	MUC16	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9070263	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.003	C	C	9070263	G	C	9070263	3	2	168	1	0	0	0	0	1	0	0	0	9996	942	33	1	26668	1	MUC16	19	9070263	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	153	9070263	50058720	367	32084			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9071029	9071029	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtttgaatttggttagtctGagagatattaggagttgatg	13	1	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071029G>A	ENST00000397910.4	-	3	16620	c.16417C>T	c.(16417-16419)Cag>Tag	p.Q5473*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5475	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q5473*(2)|p.Q1106*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTAGTCTGAGAGATATTA	0.498																																																	3	Substitution - Nonsense(3)	lung(3)											129	127	127					19																	9071029		2028	4174	6202	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16417C>T	19.37:g.9071029G>A	ENSP00000381008:p.Gln5473*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q5473*	ENST00000397910.4	37	c.16417	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	56	25.913026	0.99967	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.06	-4.12	0.03916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.827	0.05488	0.148:0.4141:0.3151:0.1228	.	.	.	.	X	5473	.	ENSP00000381008:Q5473X	Q	-	1	0	MUC16	8932029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.145000	0.10265	-1.472000	0.01883	-2.140000	0.00339	CAG	MUC16	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071029	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	9071029	G	A	9071029	4	1	168	1	0	0	0	0	0	1	0	0	9996	1299	45	1	27434	1	MUC16	19	9071029	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	766	9071029	50057954	368	32085			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9071367	9071367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagtcacaggaagaggagagGaggggatgctctgtggtgat	18	5	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071367G>A	ENST00000397910.4	-	3	16282	c.16079C>T	c.(16078-16080)tCc>tTc	p.S5360F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5362	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGGAGAGGAGGGGATGCT	0.532																																																	0													157	155	156					19																	9071367		2063	4207	6270	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16079C>T	19.37:g.9071367G>A	ENSP00000381008:p.Ser5360Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5360F	ENST00000397910.4	37	c.16079	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.346	-0.350011	0.05173	.	.	ENSG00000181143	ENST00000397910	T	0.30182	1.54	2.39	0.131	0.14755	.	.	.	.	.	T	0.19805	0.0476	L	0.32530	0.975	.	.	.	B	0.19583	0.037	B	0.21151	0.033	T	0.25606	-1.0127	8	0.87932	D	0	.	3.1465	0.06473	0.1525:0.0:0.5883:0.2593	.	5360	B5ME49	.	F	5360	ENSP00000381008:S5360F	ENSP00000381008:S5360F	S	-	2	0	MUC16	8932367	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.774000	0.26675	0.123000	0.18342	-0.656000	0.03901	TCC	MUC16	-	NULL		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071367	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9071367	G	A	9071367	3	1	168	1	0	0	0	0	1	0	0	0	9996	1174	41	1	27772	1	MUC16	19	9071367	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	338	9071367	50057616	369	32086			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9071445	9071445	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aagacatcagggaagacacaGagctggtttcttccacaggg	12	9	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071445G>C	ENST00000397910.4	-	3	16204	c.16001C>G	c.(16000-16002)tCt>tGt	p.S5334C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5336	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGACACAGAGCTGGTTTC	0.542																																																	0													106	110	108					19																	9071445		2043	4188	6231	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16001C>G	19.37:g.9071445G>C	ENSP00000381008:p.Ser5334Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5334C	ENST00000397910.4	37	c.16001	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.619	-0.521919	0.04171	.	.	ENSG00000181143	ENST00000397910	T	0.30714	1.52	2.04	-0.195	0.13236	.	.	.	.	.	T	0.17831	0.0428	L	0.32530	0.975	.	.	.	P	0.48640	0.913	B	0.37888	0.26	T	0.20207	-1.0282	8	0.87932	D	0	.	4.3071	0.10953	0.369:0.0:0.631:0.0	.	5334	B5ME49	.	C	5334	ENSP00000381008:S5334C	ENSP00000381008:S5334C	S	-	2	0	MUC16	8932445	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.452000	0.21795	0.020000	0.15106	-0.727000	0.03589	TCT	MUC16	-	NULL		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071445	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C	C	9071445	G	C	9071445	3	2	168	1	0	0	0	0	1	0	0	0	9996	942	33	1	27850	1	MUC16	19	9071445	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	78	9071445	50057538	370	32087			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9071580	9071580	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctccctgggaaagtgtggttGatgtgtccaagggaagggta	16	6	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071580G>A	ENST00000397910.4	-	3	16069	c.15866C>T	c.(15865-15867)tCa>tTa	p.S5289L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5291	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGTGTGGTTGATGTGTCCAA	0.507																																																	0													159	154	155					19																	9071580		2047	4199	6246	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15866C>T	19.37:g.9071580G>A	ENSP00000381008:p.Ser5289Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5289L	ENST00000397910.4	37	c.15866	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.107	-0.183483	0.06340	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.94	-3.66	0.04489	.	.	.	.	.	T	0.02047	0.0064	L	0.27053	0.805	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44997	-0.9291	8	0.87932	D	0	.	3.6059	0.08042	0.4115:0.1969:0.3916:0.0	.	5289	B5ME49	.	L	5289	ENSP00000381008:S5289L	ENSP00000381008:S5289L	S	-	2	0	MUC16	8932580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.046000	0.11983	-0.905000	0.03871	-2.219000	0.00296	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071580	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9071580	G	A	9071580	3	1	168	1	0	0	0	0	1	0	0	0	9996	1294	45	1	27985	1	MUC16	19	9071580	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	135	9071580	50057403	371	32088			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9071925	9071925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	taatgtttgtagtctcagagGaaccatgcactggcattgat	10	7	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9071925G>T	ENST00000397910.4	-	3	15724	c.15521C>A	c.(15520-15522)tCc>tAc	p.S5174Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5176	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCAGAGGAACCATGCAC	0.498																																																	0													293	276	282					19																	9071925		2009	4179	6188	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15521C>A	19.37:g.9071925G>T	ENSP00000381008:p.Ser5174Tyr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5174Y	ENST00000397910.4	37	c.15521	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.966	-0.701843	0.03255	.	.	ENSG00000181143	ENST00000397910	T	0.25749	1.78	1.25	0.0826	0.14429	.	.	.	.	.	T	0.23289	0.0563	L	0.38175	1.15	.	.	.	D	0.62365	0.991	P	0.50231	0.635	T	0.28364	-1.0046	8	0.87932	D	0	.	3.8649	0.09012	0.2575:0.0:0.7425:0.0	.	5174	B5ME49	.	Y	5174	ENSP00000381008:S5174Y	ENSP00000381008:S5174Y	S	-	2	0	MUC16	8932925	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.675000	0.05227	0.106000	0.17784	0.121000	0.15741	TCC	MUC16	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071925	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	T	T	9071925	G	T	9071925	3	4	168	1	0	0	0	0	1	0	0	0	9996	1174	41	3	28330	3	MUC16	19	9071925	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	345	9071925	50057058	372	32089			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9072414	9072414	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagtggtcacatccaattgtGaaaatccatgagtcatagct	9	8	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9072414G>A	ENST00000397910.4	-	3	15235	c.15032C>T	c.(15031-15033)tCa>tTa	p.S5011L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5013	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCCAATTGTGAAAATCCATG	0.483																																																	0													111	104	106					19																	9072414		1942	4125	6067	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15032C>T	19.37:g.9072414G>A	ENSP00000381008:p.Ser5011Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5011L	ENST00000397910.4	37	c.15032	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	12.23	1.875349	0.33162	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.3	2.3	0.28687	.	.	.	.	.	T	0.16385	0.0394	N	0.14661	0.345	.	.	.	B	0.31174	0.311	B	0.35550	0.205	T	0.20438	-1.0275	8	0.87932	D	0	.	8.3795	0.32463	0.0:0.0:1.0:0.0	.	5011	B5ME49	.	L	5011	ENSP00000381008:S5011L	ENSP00000381008:S5011L	S	-	2	0	MUC16	8933414	0.000000	0.05858	0.009000	0.14445	0.833000	0.47200	0.239000	0.18023	1.645000	0.50612	0.282000	0.19409	TCA	MUC16	-	NULL		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9072414	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.010	A	A	9072414	G	A	9072414	3	1	168	1	0	0	0	0	1	0	0	0	9996	1294	45	1	28819	1	MUC16	19	9072414	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	489	9072414	50056569	373	32090			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9072600	9072600	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tttctgtggagatgtctagtGacactgtggactgatcaggg	14	6	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9072600G>T	ENST00000397910.4	-	3	15049	c.14846C>A	c.(14845-14847)tCa>tAa	p.S4949*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4951	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTCTAGTGACACTGTGGA	0.507																																																	0													212	193	199					19																	9072600		2045	4200	6245	SO:0001587	stop_gained	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14846C>A	19.37:g.9072600G>T	ENSP00000381008:p.Ser4949*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S4949*	ENST00000397910.4	37	c.14846	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	56	27.127428	0.99970	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.47	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.0946	0.14727	0.1698:0.0:0.8302:0.0	.	.	.	.	X	4949	.	ENSP00000381008:S4949X	S	-	2	0	MUC16	8933600	0.009000	0.17119	0.001000	0.08648	0.865000	0.49528	2.025000	0.41059	0.637000	0.30526	0.282000	0.19409	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9072600	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	9072600	G	T	9072600	4	4	168	1	0	0	0	0	0	1	0	0	9996	1294	45	3	29005	3	MUC16	19	9072600	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	186	9072600	50056383	374	32091			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9072723	9072723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagtgcttgtctctgtggacGaggtgatctcctgggagatg	15	8	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9072723G>A	ENST00000397910.4	-	3	14926	c.14723C>T	c.(14722-14724)tCg>tTg	p.S4908L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4910	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGTGGACGAGGTGATCTC	0.493																																																	0													220	208	212					19																	9072723		2102	4226	6328	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14723C>T	19.37:g.9072723G>A	ENSP00000381008:p.Ser4908Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S4908L	ENST00000397910.4	37	c.14723	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	5.626	0.300144	0.10622	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.36	0.142	0.14816	.	.	.	.	.	T	0.03220	0.0094	L	0.50333	1.59	.	.	.	B	0.13145	0.007	B	0.09377	0.004	T	0.22103	-1.0226	8	0.87932	D	0	.	4.8495	0.13530	0.3151:0.0:0.6849:0.0	.	4908	B5ME49	.	L	4908	ENSP00000381008:S4908L	ENSP00000381008:S4908L	S	-	2	0	MUC16	8933723	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.230000	0.17852	0.114000	0.18032	-0.750000	0.03501	TCG	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9072723	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A	A	9072723	G	A	9072723	3	1	168	1	0	0	0	0	1	0	0	0	9996	1059	37	1	29128	1	MUC16	19	9072723	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	123	9072723	50056260	375	32092			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9073656	9073656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttcgtccagcagtcagggagGatgttggctctccctcaatg	12	11	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9073656G>A	ENST00000397910.4	-	3	13993	c.13790C>T	c.(13789-13791)tCc>tTc	p.S4597F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4599	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCAGGGAGGATGTTGGCTC	0.512																																																	0													98	93	94					19																	9073656		2028	4180	6208	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13790C>T	19.37:g.9073656G>A	ENSP00000381008:p.Ser4597Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S4597F	ENST00000397910.4	37	c.13790	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.866	-0.235054	0.05983	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.63	0.488	0.16848	.	.	.	.	.	T	0.04998	0.0134	L	0.53249	1.67	.	.	.	D	0.59357	0.985	P	0.49477	0.612	T	0.30534	-0.9975	8	0.87932	D	0	.	4.9858	0.14189	0.0:0.0:0.6469:0.3531	.	4597	B5ME49	.	F	4597	ENSP00000381008:S4597F	ENSP00000381008:S4597F	S	-	2	0	MUC16	8934656	0.000000	0.05858	0.014000	0.15608	0.078000	0.17371	-0.527000	0.06200	0.204000	0.20548	0.313000	0.20887	TCC	MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9073656	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.018	A	A	9073656	G	A	9073656	3	1	168	1	0	0	0	0	1	0	0	0	9996	1174	41	1	30061	1	MUC16	19	9073656	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	933	9073656	50055327	376	32093			1	129		12	12	3743	G		2.563872e-22
MUC16	94025	genome.wustl.edu	37	chr19	9073852	9073852	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgctttgtttatggaaggatGaatagtctctatatctgtgg	11	4	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:9073852G>T	ENST00000397910.4	-	3	13797	c.13594C>A	c.(13594-13596)Cat>Aat	p.H4532N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4534	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGAAGGATGAATAGTCTCT	0.458																																																	0													124	118	120					19																	9073852		1996	4160	6156	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13594C>A	19.37:g.9073852G>T	ENSP00000381008:p.His4532Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.H4532N	ENST00000397910.4	37	c.13594	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.143	0.024855	0.08054	.	.	ENSG00000181143	ENST00000397910	T	0.27104	1.69	1.5	1.5	0.22942	.	.	.	.	.	T	0.15998	0.0385	L	0.38175	1.15	.	.	.	P	0.39809	0.689	B	0.32022	0.139	T	0.19811	-1.0294	8	0.87932	D	0	.	6.4164	0.21719	0.0:0.0:1.0:0.0	.	4532	B5ME49	.	N	4532	ENSP00000381008:H4532N	ENSP00000381008:H4532N	H	-	1	0	MUC16	8934852	0.001000	0.12720	0.003000	0.11579	0.195000	0.23768	0.786000	0.26844	1.104000	0.41587	0.313000	0.20887	CAT	MUC16	-	NULL		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9073852	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.004	T	T	9073852	G	T	9073852	3	4	168	1	0	0	0	0	1	0	0	0	9996	1290	45	3	30257	3	MUC16	19	9073852	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	196	9073852	50055131	377	32094			1	129		12	12	3743	G		2.563872e-22
ZGLP1	100125288	genome.wustl.edu	37	chr19	10416086	10416086	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgatcccacaggcgttgcaGagaggggtcccatcttcagc	12	13	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:10416086G>C	ENST00000403903.3	-	3	1876	c.678C>G	c.(676-678)ctC>ctG	p.L226L	ZGLP1_ENST00000403352.1_Silent_p.L142L	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	226					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						AGGCGTTGCAGAGAGGGGTCC	0.627																																																	0													24	25	25					19																	10416086		1898	4122	6020	SO:0001819	synonymous_variant	100125288			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"GATA zinc finger domain containing"	37245	protein-coding gene	gene with protein product	"GATA like protein 1", "GATA zinc finger domain containing 3"	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.678C>G	19.37:g.10416086G>C				Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	p.L226	ENST00000403903.3	37	c.678	CCDS45959.1	19																																																																																			ZGLP1	-	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA		0.627	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZGLP1	HGNC	protein_coding	OTTHUMT00000325278.1	G	NM_001103167		10416086	-1	no_errors	ENST00000403903	ensembl	human	known	70_37	silent	SNP	0.997	C	C	10416086	G	C	10416086	2	2	168	1	0	0	0	0	0	0	0	1	17703	929	33	1		1	ZGLP1	19	10416086	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1342234	10416086	48712897	378	32095										
LPPR2	64748	genome.wustl.edu	37	chr19	11472092	11472092	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgcgctggcagtcccagcctCgtggccgccgcgcgccgcgc	15	19	0	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:11472092C>T	ENST00000251473.5	+	6	967	c.591C>T	c.(589-591)ctC>ctT	p.L197L	DKFZP761J1410_ENST00000591608.1_Silent_p.L172L	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GTCCCAGCCTCGTGGCCGCCG	0.701																																																	0													31	31	31					19																	11472092		2199	4298	6497	SO:0001819	synonymous_variant	64748																														ENST00000251473.5:c.591C>T	19.37:g.11472092C>T				Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L172	ENST00000251473.5	37	c.516	CCDS12258.1	19																																																																																			LPPR2	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.701	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	Uniprot_genename	protein_coding	OTTHUMT00000458779.1	C			11472092	1	no_errors	ENST00000591608	ensembl	human	known	70_37	silent	SNP	0.955	T	T	11472092	C	T	11472092	2	4	168	1	0	0	0	0	0	0	0	1	8948	871	31	1		1	LPPR2	19	11472092	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1056006	11472092	47656891	379	32096										
TRMT1	55621	genome.wustl.edu	37	chr19	13227100	13227100	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccgtagggcccggtgccgttCtccatcgctgctgtattcgg	13	14	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:13227100C>T	ENST00000592062.1	-	3	684	c.114G>A	c.(112-114)gaG>gaA	p.E38E	NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000357720.4_Silent_p.E38E|TRMT1_ENST00000221504.8_Silent_p.E38E|TRMT1_ENST00000437766.1_Silent_p.E38E			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	38							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGTGCCGTTCTCCATCGCTG	0.617																																																	0													72	73	73					19																	13227100		2203	4300	6503	SO:0001819	synonymous_variant	55621			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.114G>A	19.37:g.13227100C>T			O76103|Q548Y5|Q8WVA6	Silent	SNP	pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1	p.E38	ENST00000592062.1	37	c.114	CCDS12293.1	19																																																																																			TRMT1	-	NULL		0.617	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	C	NM_017722		13227100	-1	no_errors	ENST00000357720	ensembl	human	known	70_37	silent	SNP	1.000	T	T	13227100	C	T	13227100	2	4	168	1	0	0	0	0	0	0	0	1	16592	912	32	1		1	TRMT1	19	13227100	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1755008	13227100	45901883	380	32097										
COMP	1311	genome.wustl.edu	37	chr19	18898414	18898414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cgcatcgccccacttgtcctCgtccgtgttgcgctggtctg	11	16	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:18898414C>T	ENST00000222271.2	-	10	1065	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	COMP_ENST00000425807.1_Missense_Mutation_p.E288K|COMP_ENST00000542601.2_Missense_Mutation_p.E308K	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	341			Missing (in PSACH). {ECO:0000269|PubMed:21922596}.		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACTTGTCCTCGTCCGTGTTG	0.622																																																	0													162	135	144					19																	18898414		2203	4300	6503	SO:0001583	missense	1311			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1021G>A	19.37:g.18898414C>T	ENSP00000222271:p.Glu341Lys		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E341K	ENST00000222271.2	37	c.1021	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	1.489	-0.555189	0.03967	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97455	-4.39;-4.39;-4.39	3.33	-0.454	0.12197	.	0.536155	0.17709	U	0.164651	D	0.85004	0.5598	N	0.01624	-0.795	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77778	-0.2460	10	0.02654	T	1	-6.9392	7.8567	0.29487	0.0:0.3027:0.0:0.6973	.	288;341	B4DKJ3;P49747	.;COMP_HUMAN	K	308;341;288;328	ENSP00000439156:E308K;ENSP00000222271:E341K;ENSP00000403792:E288K	ENSP00000222271:E341K	E	-	1	0	COMP	18759414	0.017000	0.18338	0.048000	0.18961	0.874000	0.50279	0.071000	0.14594	-0.150000	0.11195	0.313000	0.20887	GAG	COMP	-	pfam_Thrombospondin_3-like_rpt		0.622	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	C	NM_000095		18898414	-1	no_errors	ENST00000222271	ensembl	human	known	70_37	missense	SNP	0.084	T	T	18898414	C	T	18898414	3	4	168	1	0	0	0	0	1	0	0	0	3729	893	31	1	1292	1	COMP	19	18898414	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	5671314	18898414	40230569	381	32098										
NR2C2AP	126382	genome.wustl.edu	37	chr19	19313682	19313682	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagtgttgcgattcagcactGaactcaccctggaggcacca	11	12	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:19313682G>C	ENST00000331552.7	-	2	410	c.47C>G	c.(46-48)tCa>tGa	p.S16*	NR2C2AP_ENST00000544883.1_Nonsense_Mutation_p.S16*|NR2C2AP_ENST00000538165.2_Nonsense_Mutation_p.S16*|NR2C2AP_ENST00000420605.3_Nonsense_Mutation_p.S16*	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	16					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			ATTCAGCACTGAACTCACCCT	0.577																																																	0													88	85	86					19																	19313682		2203	4300	6503	SO:0001587	stop_gained	126382			AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"TR4 orphan receptor associated protein TRA16"	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.47C>G	19.37:g.19313682G>C	ENSP00000332823:p.Ser16*		A6NGP7|B4DW92	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.S16*	ENST00000331552.7	37	c.47	CCDS32967.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.535311	0.98345	.	.	ENSG00000184162	ENST00000331552;ENST00000420605;ENST00000544883	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1948	11.6738	0.51417	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000332823:S16X	S	-	2	0	NR2C2AP	19174682	1.000000	0.71417	0.415000	0.26534	0.857000	0.48899	7.693000	0.84214	2.121000	0.65114	0.462000	0.41574	TCA	NR2C2AP	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like		0.577	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NR2C2AP	HGNC	protein_coding	OTTHUMT00000402936.4	G	NM_176880		19313682	-1	no_errors	ENST00000331552	ensembl	human	known	70_37	nonsense	SNP	0.946	C	C	19313682	G	C	19313682	4	2	168	1	0	0	0	0	0	1	0	0	10648	1294	45	1	388	1	NR2C2AP	19	19313682	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	415268	19313682	39815301	382	32099										
APLP1	333	genome.wustl.edu	37	chr19	36365430	36365430	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tccagtccattctgcagactCtggaggagcaggtgtctggt	13	10	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:36365430C>G	ENST00000221891.4	+	9	1273	c.1081C>G	c.(1081-1083)Ctg>Gtg	p.L361V	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.L355V|APLP1_ENST00000537454.2_Missense_Mutation_p.L322V	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	361					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTGCAGACTCTGGAGGAGCA	0.627																																																	0													75	82	80					19																	36365430		2203	4300	6503	SO:0001583	missense	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1081C>G	19.37:g.36365430C>G	ENSP00000221891:p.Leu361Val		O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.L361V	ENST00000221891.4	37	c.1081	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593972	0.66219	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.61627	0.09;0.09	4.51	1.93	0.25924	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.36555	N	0.002523	T	0.67411	0.2890	L	0.58510	1.815	0.51012	D	0.999905	P;D;D;D	0.76494	0.913;0.999;0.985;0.988	P;D;P;P	0.73380	0.713;0.98;0.801;0.875	T	0.67635	-0.5620	10	0.62326	D	0.03	-11.8357	9.282	0.37733	0.0:0.7782:0.0:0.2218	.	355;322;361;361	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	V	322;361	ENSP00000441501:L322V;ENSP00000221891:L361V	ENSP00000221891:L361V	L	+	1	2	APLP1	41057270	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	2.221000	0.42917	0.882000	0.36016	0.555000	0.69702	CTG	APLP1	-	superfamily_Amyloid_glyco_E2_domain		0.627	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	C	NM_001024807		36365430	1	no_errors	ENST00000221891	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36365430	C	G	36365430	3	3	168	1	0	0	0	0	1	0	0	0	778	912	32	1	1115	1	APLP1	19	36365430	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	17051748	36365430	22763553	383	32100										
PAPL	390928	genome.wustl.edu	37	chr19	39575922	39575922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccaccaccatgcacccccttCctggctactggtcctgttac	6	19	0	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:39575922C>T	ENST00000331256.5	+	2	287	c.13C>T	c.(13-15)Cct>Tct	p.P5S	PAPL_ENST00000594229.1_Missense_Mutation_p.P5S	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		5						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										GCACCCCCTTCCTGGCTACTG	0.627																																																	0													226	188	201					19																	39575922		2203	4300	6503	SO:0001583	missense	390928																														ENST00000331256.5:c.13C>T	19.37:g.39575922C>T	ENSP00000327557:p.Pro5Ser		B2RN68	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N	p.P5S	ENST00000331256.5	37	c.13	CCDS33018.1	19	.	.	.	.	.	.	.	.	.	.	C	3.942	-0.013971	0.07681	.	.	ENSG00000183760	ENST00000331256	.	.	.	4.2	-3.42	0.04825	.	2.507320	0.01166	N	0.006757	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11916	-1.0568	9	0.30854	T	0.27	3.4071	5.1579	0.15044	0.0:0.3094:0.1616:0.529	.	5	Q6ZNF0	PAPL_HUMAN	S	5	.	ENSP00000327557:P5S	P	+	1	0	AC011443.1	44267762	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.803000	0.04540	-0.377000	0.07930	0.563000	0.77884	CCT	PAPL	-	NULL		0.627	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPL	Uniprot_genename	protein_coding	OTTHUMT00000463810.1	C			39575922	1	no_errors	ENST00000331256	ensembl	human	known	70_37	missense	SNP	0.000	T	T	39575922	C	T	39575922	3	4	168	1	0	0	0	0	1	0	0	0	11451	855	30	1	15	1	PAPL	19	39575922	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	3210492	39575922	19553061	384	32101										
FCGBP	8857	genome.wustl.edu	37	chr19	40382372	40382372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccactgcaggacagaggcctCcaggatggccctgaacttgg	13	13	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:40382372C>G	ENST00000221347.6	-	22	10521	c.10514G>C	c.(10513-10515)gGa>gCa	p.G3505A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3505						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGAGGCCTCCAGGATGGCC	0.706																																																	0													5	7	6					19																	40382372		740	2015	2755	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.10514G>C	19.37:g.40382372C>G	ENSP00000221347:p.Gly3505Ala		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.G3505A	ENST00000221347.6	37	c.10514	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452072	0.26074	.	.	ENSG00000090920	ENST00000221347	T	0.75477	-0.94	2.5	1.36	0.22044	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.69584	0.3127	L	0.28115	0.83	0.09310	N	1	B	0.33379	0.41	P	0.51016	0.656	T	0.59516	-0.7440	9	0.10111	T	0.7	.	8.2873	0.31937	0.0:0.5153:0.4847:0.0	.	3505	Q9Y6R7	FCGBP_HUMAN	A	3505	ENSP00000221347:G3505A	ENSP00000221347:G3505A	G	-	2	0	FCGBP	45074212	0.000000	0.05858	0.017000	0.16124	0.821000	0.46438	-0.049000	0.11924	0.347000	0.23924	0.194000	0.17425	GGA	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40382372	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.004	G	G	40382372	C	G	40382372	3	3	168	1	0	0	0	0	1	0	0	0	5796	855	30	1	5763	1	FCGBP	19	40382372	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	806450	40382372	18746611	385	32102										
AKT2	208	genome.wustl.edu	37	chr19	40741040	40741040	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcggacgtgacctgaggtttGaagggtggcaggagctacgg	18	7	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:40741040G>C	ENST00000392038.2	-	13	1576	c.1278C>G	c.(1276-1278)ttC>ttG	p.F426L	AKT2_ENST00000424901.1_Missense_Mutation_p.F426L|AKT2_ENST00000311278.6_Missense_Mutation_p.F383L|AKT2_ENST00000579047.1_Missense_Mutation_p.F364L	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	426	AGC-kinase C-terminal.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCTGAGGTTTGAAGGGTGGCA	0.607			A		"ovarian, pancreatic "																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													128	114	119					19																	40741040		2203	4300	6503	SO:0001583	missense	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1278C>G	19.37:g.40741040G>C	ENSP00000375892:p.Phe426Leu		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.F426L	ENST00000392038.2	37	c.1278	CCDS12552.1	19	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634402	0.47049	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278	T;T;T	0.56776	0.44;0.44;0.44	5.39	4.31	0.51392	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.998	P;D;P	0.74348	0.88;0.983;0.898	T	0.81876	-0.0731	10	0.87932	D	0	.	13.1853	0.59677	0.0888:0.0:0.9112:0.0	.	364;383;426	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	L	426;327;426;383	ENSP00000375892:F426L;ENSP00000399532:F426L;ENSP00000309428:F383L	ENSP00000309428:F383L	F	-	3	2	AKT2	45432880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.918000	0.40006	2.808000	0.96608	0.655000	0.94253	TTC	AKT2	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C		0.607	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	G	NM_001626		40741040	-1	no_errors	ENST00000392038	ensembl	human	known	70_37	missense	SNP	1.000	C	C	40741040	G	C	40741040	3	2	168	1	0	0	0	0	1	0	0	0	480	1281	45	1	175	1	AKT2	19	40741040	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	358668	40741040	18387943	386	32103										
CCDC97	90324	genome.wustl.edu	37	chr19	41825618	41825618	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cccaagcccgggtcccccggGagacctgcttgcccgctctc	11	20	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:41825618G>A	ENST00000269967.3	+	3	764	c.642G>A	c.(640-642)ggG>ggA	p.G214G		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	214										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GGTCCCCCGGGAGACCTGCTT	0.657																																																	0													41	48	46					19																	41825618		2203	4300	6503	SO:0001819	synonymous_variant	90324			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.642G>A	19.37:g.41825618G>A			Q658N6|Q96IF3	Silent	SNP	pfam_DUF2052_coiled-coil	p.G214	ENST00000269967.3	37	c.642	CCDS12578.1	19																																																																																			CCDC97	-	pfam_DUF2052_coiled-coil		0.657	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC97	HGNC	protein_coding	OTTHUMT00000463293.1	G	NM_052848		41825618	1	no_errors	ENST00000269967	ensembl	human	known	70_37	silent	SNP	0.119	A	A	41825618	G	A	41825618	2	1	168	1	0	0	0	0	0	0	0	1	2880	1161	41	1		1	CCDC97	19	41825618	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1084578	41825618	17303365	387	32104										
CIC	23152	genome.wustl.edu	37	chr19	42795860	42795860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	actggtgagcccgcccttctCagtacctgtgcagaatggtg	12	12	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:42795860C>T	ENST00000575354.2	+	11	2889	c.2849C>T	c.(2848-2850)tCa>tTa	p.S950L	CIC_ENST00000572681.2_Missense_Mutation_p.S1859L|CIC_ENST00000160740.3_Missense_Mutation_p.S950L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	950	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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)				CCGCCCTTCTCAGTACCTGTG	0.637			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													43	49	47					19																	42795860		2089	4145	6234	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2849C>T	19.37:g.42795860C>T	ENSP00000458663:p.Ser950Leu		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S950L	ENST00000575354.2	37	c.2849	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406332	0.42715	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	T	0.22820	0.0551	N	0.08118	0	0.31130	N	0.707827	P	0.47409	0.895	B	0.41332	0.354	T	0.18147	-1.0346	8	0.87932	D	0	-11.3096	14.3509	0.66702	0.0:1.0:0.0:0.0	.	950	Q96RK0	CIC_HUMAN	L	950	.	ENSP00000160740:S950L	S	+	2	0	CIC	47487700	0.993000	0.37304	1.000000	0.80357	0.904000	0.53231	4.445000	0.60007	2.247000	0.74100	0.462000	0.41574	TCA	CIC	-	NULL		0.637	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	C			42795860	1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42795860	C	T	42795860	3	4	168	1	0	0	0	0	1	0	0	0	3429	838	29	1	2891	1	CIC	19	42795860	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	970242	42795860	16333123	388	32105										
CD177	57126	genome.wustl.edu	37	chr19	43858504	43858504	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaggacttctgcaacaacctCgttaactccctcccgctttg	7	15	1	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:43858504C>T	ENST00000607517.1	+	0	395				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GCAACAACCTCGTTAACTCCC	0.672																																																	0													64	69	68					19																	43858504		1944	4122	6066			57126			AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"CD molecules"	30072	protein-coding gene	gene with protein product	"polycythemia rubra vera 1"	162860	"CD177 antigen"			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43858504C>T			Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Silent	SNP	pfam_LY6_UPAR	p.L113	ENST00000607517.1	37	c.339		19																																																																																			CD177	-	NULL		0.672	CD177-001	KNOWN	basic	polymorphic_pseudogene	CD177	HGNC	polymorphic_pseudogene	OTTHUMT00000470162.1	C	NM_020406		43858504	1	no_errors	ENST00000378009	ensembl	human	known	70_37	silent	SNP	0.000	T	T	43858504	C	T	43858504	1	4	168	0	1	0	0	0	0	0	0	0	2976	871	31	1		1	CD177	19	43858504	RNA	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1062644	43858504	15270479	389	32106										
RTN2	6253	genome.wustl.edu	37	chr19	45997562	45997562	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttcgggcccagagttcgaatCtcgcgatcgggatggggacg	16	10	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:45997562C>T	ENST00000245923.4	-	4	911	c.676G>A	c.(676-678)Gat>Aat	p.D226N	RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.D226N|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000396737.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	226					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GAGTTCGAATCTCGCGATCGG	0.632																																																	0													79	67	71					19																	45997562		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.676G>A	19.37:g.45997562C>T	ENSP00000245923:p.Asp226Asn		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.D226N	ENST00000245923.4	37	c.676	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623523	0.66901	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.53857	0.62;0.6	5.68	4.65	0.58169	.	0.117859	0.38217	N	0.001777	T	0.48095	0.1481	L	0.27053	0.805	0.80722	D	1	D;P	0.53619	0.961;0.941	P;P	0.52159	0.691;0.616	T	0.48647	-0.9017	10	0.66056	D	0.02	-18.0727	9.5854	0.39512	0.0:0.9069:0.0:0.0931	.	226;226	O75298-2;O75298	.;RTN2_HUMAN	N	226	ENSP00000345127:D226N;ENSP00000245923:D226N	ENSP00000245923:D226N	D	-	1	0	RTN2	50689402	0.998000	0.40836	0.991000	0.47740	0.233000	0.25261	1.413000	0.34725	2.688000	0.91661	0.563000	0.77884	GAT	RTN2	-	NULL		0.632	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	C	NM_005619		45997562	-1	no_errors	ENST00000245923	ensembl	human	known	70_37	missense	SNP	0.975	T	T	45997562	C	T	45997562	3	4	168	1	0	0	0	0	1	0	0	0	13756	913	32	1	993	1	RTN2	19	45997562	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2139058	45997562	13131421	390	32107										
ARHGAP35	2909	genome.wustl.edu	37	chr19	47503618	47503618	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aacaacaaggtgaatctcatGaccagcgagaacctctccat	7	12	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:47503618G>C	ENST00000404338.3	+	6	4173	c.4173G>C	c.(4171-4173)atG>atC	p.M1391I		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1391	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TGAATCTCATGACCAGCGAGA	0.577																																																	0													224	234	231					19																	47503618		2163	4258	6421	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4173G>C	19.37:g.47503618G>C	ENSP00000385720:p.Met1391Ile		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.M1391I	ENST00000404338.3	37	c.4173	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890729	0.91889	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.39592	1.07	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.79516	0.4459	H	0.99026	4.405	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87997	0.2753	10	0.87932	D	0	-40.9777	17.3875	0.87421	0.0:0.0:1.0:0.0	.	1391	Q9NRY4-2	.	I	1391	ENSP00000385720:M1391I	ENSP00000324820:M1391I	M	+	3	0	ARHGAP35	52195458	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.643000	0.89663	0.650000	0.86243	ATG	ARHGAP35	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.577	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	G	NM_004491		47503618	1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47503618	G	C	47503618	3	2	168	1	0	0	0	0	1	0	0	0	6815	1290	45	1	4195	1	ARHGAP35	19	47503618	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1506056	47503618	11625365	391	32108										
KDELR1	10945	genome.wustl.edu	37	chr19	48887664	48887664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gctggtgatggtctccgcctCgccggtcttgctcaccatga	12	14	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:48887664C>T	ENST00000330720.2	-	4	621	c.427G>A	c.(427-429)Gag>Aag	p.E143K	KDELR1_ENST00000597017.1_Missense_Mutation_p.E81K	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	143					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCTCCGCCTCGCCGGTCTTG	0.567																																																	0													62	54	57					19																	48887664		2203	4300	6503	SO:0001583	missense	10945			X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.427G>A	19.37:g.48887664C>T	ENSP00000329471:p.Glu143Lys		B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.E143K	ENST00000330720.2	37	c.427	CCDS12718.1	19	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960331	0.74016	.	.	ENSG00000105438	ENST00000330720	T	0.45668	0.89	4.75	3.7	0.42460	.	0.000000	0.64402	D	0.000012	T	0.51466	0.1676	M	0.81942	2.565	0.58432	D	0.999996	P	0.44006	0.824	P	0.45343	0.477	T	0.59418	-0.7458	10	0.48119	T	0.1	.	14.1879	0.65617	0.0:0.8486:0.1514:0.0	.	143	P24390	ERD21_HUMAN	K	143	ENSP00000329471:E143K	ENSP00000329471:E143K	E	-	1	0	KDELR1	53579476	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.546000	0.82137	1.345000	0.45676	0.655000	0.94253	GAG	KDELR1	-	pfam_ER_ret_rcpt,prints_ER_ret_rcpt		0.567	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR1	HGNC	protein_coding	OTTHUMT00000465708.1	C			48887664	-1	no_errors	ENST00000330720	ensembl	human	known	70_37	missense	SNP	0.999	T	T	48887664	C	T	48887664	3	4	168	1	0	0	0	0	1	0	0	0	8139	893	31	1	219	1	KDELR1	19	48887664	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1384046	48887664	10241319	392	32109										
PLEKHA4	57664	genome.wustl.edu	37	chr19	49341352	49341352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aacccgctcccggtgaccttCggaagtcggcaagtaagggg	14	12	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:49341352C>T	ENST00000263265.6	-	19	2554	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	HSD17B14_ENST00000263278.4_5'Flank|HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R568Q	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	667						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CGGTGACCTTCGGAAGTCGGC	0.562																																																	0													70	75	73					19																	49341352		2203	4300	6503	SO:0001583	missense	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1999G>A	19.37:g.49341352C>T	ENSP00000263265:p.Glu667Lys		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E667K	ENST00000263265.6	37	c.1999	CCDS12737.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.88|13.88	2.368329|2.368329	0.42003|0.42003	.|.	.|.	ENSG00000105559|ENSG00000105559	ENST00000263265|ENST00000355496	T|T	0.24350|0.18810	1.86|2.19	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	1.280490|.	0.05787|.	N|.	0.609639|.	T|T	0.22742|0.22742	0.0549|0.0549	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999996|0.999996	B|D	0.30634|0.64830	0.288|0.994	B|P	0.19946|0.48089	0.027|0.566	T|T	0.06058|0.06058	-1.0848|-1.0848	9|8	0.48119|0.31617	T|T	0.1|0.26	.|.	11.5967|11.5967	0.50977|0.50977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	667|568	Q9H4M7|Q9H4M7-2	PKHA4_HUMAN|.	K|Q	667|568	ENSP00000263265:E667K|ENSP00000347683:R568Q	ENSP00000263265:E667K|ENSP00000347683:R568Q	E|R	-|-	1|2	0|0	PLEKHA4|PLEKHA4	54033164|54033164	0.390000|0.390000	0.25213|0.25213	0.342000|0.342000	0.25602|0.25602	0.948000|0.948000	0.59901|0.59901	1.241000|1.241000	0.32743|0.32743	2.199000|2.199000	0.70637|0.70637	0.546000|0.546000	0.68486|0.68486	GAA|CGA	PLEKHA4	-	NULL		0.562	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	C			49341352	-1	no_errors	ENST00000263265	ensembl	human	known	70_37	missense	SNP	0.405	T	T	49341352	C	T	49341352	3	4	168	1	0	0	0	0	1	0	0	0	12082	893	31	1	348	1	PLEKHA4	19	49341352	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	453688	49341352	9787631	393	32110										
PNKP	11284	genome.wustl.edu	37	chr19	50365825	50365825	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcgcaggagaagtctttcttCttccgccccggggcccagtt	12	14	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:50365825C>T	ENST00000322344.3	-	10	1015	c.906G>A	c.(904-906)aaG>aaA	p.K302K	AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000600573.1_Silent_p.K302K|PNKP_ENST00000596014.1_Silent_p.K302K|PNKP_ENST00000600910.1_Silent_p.K302K	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	302	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		AGTCTTTCTTCTTCCGCCCCG	0.711								Other BER factors																																									0													16	20	19					19																	50365825		2198	4291	6489	SO:0001819	synonymous_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.906G>A	19.37:g.50365825C>T			Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.K302	ENST00000322344.3	37	c.906	CCDS12783.1	19																																																																																			PNKP	-	pfam_PNK3P,superfamily_HAD-like_dom,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	C	NM_007254		50365825	-1	no_errors	ENST00000322344	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50365825	C	T	50365825	2	4	168	1	0	0	0	0	0	0	0	1	12171	912	32	1		1	PNKP	19	50365825	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1024473	50365825	8763158	394	32111										
SYT3	84258	genome.wustl.edu	37	chr19	51132566	51132566	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ctgaccgagccgccctccacGatgtccctccagagcgggcg	12	18	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:51132566G>A	ENST00000338916.4	-	4	1899	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	SYT3_ENST00000600079.1_Silent_p.I422I|SYT3_ENST00000593901.1_Silent_p.I422I|SYT3_ENST00000544769.1_Silent_p.I422I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	422					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CGCCCTCCACGATGTCCCTCC	0.682																																																	0													17	19	18					19																	51132566		2203	4297	6500	SO:0001819	synonymous_variant	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1266C>T	19.37:g.51132566G>A			Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.I422	ENST00000338916.4	37	c.1266	CCDS12798.1	19																																																																																			SYT3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.682	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	G	NM_032298		51132566	-1	no_errors	ENST00000338916	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51132566	G	A	51132566	2	1	168	1	0	0	0	0	0	0	0	1	15505	1048	37	1		1	SYT3	19	51132566	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	766741	51132566	7996417	395	32112										
ZNF577	84765	genome.wustl.edu	37	chr19	52375874	52375874	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtgaggcttattctctgttCaaattcctgattaactacaa	6	8	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:52375874C>G	ENST00000301399.5	-	7	1734	c.1369G>C	c.(1369-1371)Gaa>Caa	p.E457Q	ZNF577_ENST00000451628.2_Missense_Mutation_p.E398Q|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.E398Q	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATTCTCTGTTCAAATTCCTGA	0.358																																																	0													63	60	61					19																	52375874		2203	4300	6503	SO:0001583	missense	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1369G>C	19.37:g.52375874C>G	ENSP00000301399:p.Glu457Gln		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E457Q	ENST00000301399.5	37	c.1369	CCDS12842.2	19	.	.	.	.	.	.	.	.	.	.	.	4.614	0.114024	0.08831	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.06768	3.27;3.31;3.31;3.26	2.72	-5.44	0.02624	.	.	.	.	.	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B;B	0.26483	0.092;0.15	B;B	0.17098	0.01;0.017	T	0.32428	-0.9907	9	0.46703	T	0.11	.	2.5704	0.04793	0.2334:0.1253:0.1081:0.5331	.	457;398	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	Q	457;398;398;457	ENSP00000301399:E457Q;ENSP00000413476:E398Q;ENSP00000389652:E398Q;ENSP00000404509:E457Q	ENSP00000301399:E457Q	E	-	1	0	ZNF577	57067686	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.998000	0.03701	-2.120000	0.00826	-0.140000	0.14226	GAA	ZNF577	-	NULL		0.358	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1	C	NM_032679		52375874	-1	no_errors	ENST00000301399	ensembl	human	known	70_37	missense	SNP	0.000	G	G	52375874	C	G	52375874	3	3	168	1	0	0	0	0	1	0	0	0	18039	835	29	1	92	1	ZNF577	19	52375874	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1243308	52375874	6753109	396	32113										
ZNF615	284370	genome.wustl.edu	37	chr19	52497885	52497885	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gagttctttaggccagagctCcttttctggttttcaaaact	8	9	3	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:52497885C>G	ENST00000602063.1	-	6	793	c.444G>C	c.(442-444)agG>agC	p.R148S	ZNF615_ENST00000598071.1_Missense_Mutation_p.R159S|ZNF615_ENST00000594083.1_Missense_Mutation_p.R159S|ZNF615_ENST00000376716.5_Missense_Mutation_p.R148S|ZNF615_ENST00000391795.3_Missense_Mutation_p.R153S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGCCAGAGCTCCTTTTCTGGT	0.338																																																	0													59	64	62					19																	52497885		2196	4292	6488	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.444G>C	19.37:g.52497885C>G	ENSP00000473089:p.Arg148Ser		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R159S	ENST00000602063.1	37	c.477	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	C	4.754	0.140124	0.09083	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07800	3.19;3.16	3.08	0.625	0.17665	.	.	.	.	.	T	0.09686	0.0238	M	0.67700	2.07	0.09310	N	1	B;B;B;B	0.22414	0.041;0.069;0.069;0.041	B;B;B;B	0.24848	0.017;0.056;0.056;0.01	T	0.31194	-0.9952	9	0.40728	T	0.16	.	4.6225	0.12461	0.0:0.4226:0.0:0.5774	.	153;155;159;148	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	S	148;158;153;158	ENSP00000365906:R148S;ENSP00000375672:R153S	ENSP00000347019:R158S	R	-	3	2	ZNF615	57189697	0.000000	0.05858	0.011000	0.14972	0.369000	0.29798	-0.955000	0.03869	0.300000	0.22699	-0.345000	0.07892	AGG	ZNF615	-	NULL		0.338	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	C	NM_198480		52497885	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	missense	SNP	0.002	G	G	52497885	C	G	52497885	3	3	168	1	0	0	0	0	1	0	0	0	18070	854	30	1	1755	1	ZNF615	19	52497885	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	122011	52497885	6631098	397	32114										
ZNF480	147657	genome.wustl.edu	37	chr19	52803701	52803701	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aaagcccagaagagaaggaaGaggaaagcaaaggagtcagg	15	5	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:52803701G>A	ENST00000595962.1	+	2	102	c.36G>A	c.(34-36)aaG>aaA	p.K12K	ZNF480_ENST00000335090.6_5'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF480_ENST00000334564.7_Silent_p.K12K|ZNF480_ENST00000490272.1_Silent_p.K12K	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AGAGAAGGAAGAGGAAAGCAA	0.443																																																	0													171	137	148					19																	52803701		2203	4300	6503	SO:0001819	synonymous_variant	147657			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.36G>A	19.37:g.52803701G>A			Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K12	ENST00000595962.1	37	c.36	CCDS12850.2	19																																																																																			ZNF480	-	NULL		0.443	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	G	NM_144684		52803701	1	no_errors	ENST00000468240	ensembl	human	known	70_37	silent	SNP	0.044	A	A	52803701	G	A	52803701	2	1	168	1	0	0	0	0	0	0	0	1	17965	933	33	1		1	ZNF480	19	52803701	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	305816	52803701	6325282	398	32115										
PEG3	5178	genome.wustl.edu	37	chr19	57328738	57328738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccgctgctggatcactgactCcctcttgttcaatgaaatgt	8	12	3	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:57328738C>T	ENST00000326441.9	-	10	1435	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E358K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E234K|PEG3_ENST00000593695.1_Missense_Mutation_p.E232K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	358					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATCACTGACTCCCTCTTGTTC	0.453																																																	0													81	76	78					19																	57328738		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1072G>A	19.37:g.57328738C>T	ENSP00000326581:p.Glu358Lys		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E358K	ENST00000326441.9	37	c.1072	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786496	0.70337	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02258	4.37;4.37	4.25	4.25	0.50352	.	0.296035	0.24301	N	0.039739	T	0.03564	0.0102	L	0.36672	1.1	.	.	.	B;B;D	0.67145	0.123;0.131;0.996	B;B;P	0.55923	0.034;0.023;0.787	T	0.34329	-0.9833	9	0.08179	T	0.78	-17.4999	8.2399	0.31654	0.0:0.8955:0.0:0.1045	.	234;358;293	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	358;358;328	ENSP00000326581:E358K;ENSP00000403051:E358K	ENSP00000292074:E328K	E	-	1	0	ZIM2	62020550	0.009000	0.17119	0.893000	0.35052	0.945000	0.59286	0.528000	0.23002	2.658000	0.90341	0.655000	0.94253	GAG	PEG3	-	NULL		0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	C			57328738	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	missense	SNP	0.886	T	T	57328738	C	T	57328738	3	4	168	1	0	0	0	0	1	0	0	0	11744	864	30	1	3698	1	PEG3	19	57328738	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	4525037	57328738	1800245	399	32116										
ZNF805	390980	genome.wustl.edu	37	chr19	57764604	57764604	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gaaatgcagggagaacgcttGagaccagggttagattccca	13	8	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr19:57764604G>A	ENST00000414468.2	+	4	417	c.417G>A	c.(415-417)ttG>ttA	p.L139L	ZNF805_ENST00000535550.1_Silent_p.L6L|ZNF805_ENST00000354309.4_Silent_p.L6L	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GAGAACGCTTGAGACCAGGGT	0.478																																																	0													124	111	115					19																	57764604		692	1591	2283	SO:0001819	synonymous_variant	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.417G>A	19.37:g.57764604G>A			B4DNM5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L139	ENST00000414468.2	37	c.417	CCDS46207.1	19																																																																																			ZNF805	-	NULL		0.478	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	G	NM_001023563		57764604	1	no_errors	ENST00000414468	ensembl	human	known	70_37	silent	SNP	0.000	A	A	57764604	G	A	57764604	2	1	168	1	0	0	0	0	0	0	0	1	18202	1281	45	1		1	ZNF805	19	57764604	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	435866	57764604	1364379	400	32117										
HSPA12B	116835	genome.wustl.edu	37	chr20	3723036	3723036	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcagctttgccagtgaccctGaggccatccacatgatgagg	11	12	1	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:3723036G>A	ENST00000254963.2	+	4	392	c.247G>A	c.(247-249)Gag>Aag	p.E83K	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	83							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CAGTGACCCTGAGGCCATCCA	0.592																																																	0													58	53	55					20																	3723036		2203	4300	6503	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.247G>A	20.37:g.3723036G>A	ENSP00000254963:p.Glu83Lys		D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	NULL	p.E83K	ENST00000254963.2	37	c.247	CCDS13061.1	20	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029862	0.75504	.	.	ENSG00000132622	ENST00000254963	T	0.03242	4.0	4.73	4.73	0.59995	.	0.052473	0.64402	D	0.000001	T	0.11024	0.0269	M	0.65975	2.015	0.80722	D	1	P;P	0.48640	0.837;0.913	B;P	0.53035	0.373;0.716	T	0.11397	-1.0589	10	0.25751	T	0.34	.	15.5958	0.76578	0.0:0.0:1.0:0.0	.	83;83	B7ZLP2;Q96MM6	.;HS12B_HUMAN	K	83	ENSP00000254963:E83K	ENSP00000254963:E83K	E	+	1	0	HSPA12B	3671036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.626000	0.88956	0.655000	0.94253	GAG	HSPA12B	-	NULL		0.592	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	HGNC	protein_coding	OTTHUMT00000077756.2	G	NM_052970		3723036	1	no_errors	ENST00000254963	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3723036	G	A	3723036	3	1	168	1	0	0	0	0	1	0	0	0	7425	1291	45	1	257	1	HSPA12B	20	3723036	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09		3723036	59302484	401	32118										
ESF1	51575	genome.wustl.edu	37	chr20	13763309	13763309	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cttatttttttgtgtaaattCtttgctatccttcttcggac	5	8	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:13763309C>G	ENST00000202816.1	-	2	585	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	160	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGTGTAAATTCTTTGCTATCC	0.284																																																	0													36	38	37					20																	13763309		2200	4289	6489	SO:0001583	missense	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.478G>C	20.37:g.13763309C>G	ENSP00000202816:p.Glu160Gln		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	pfam_NUC153	p.E160Q	ENST00000202816.1	37	c.478	CCDS13117.1	20	.	.	.	.	.	.	.	.	.	.	C	6.139	0.393952	0.11638	.	.	ENSG00000089048	ENST00000202816	T	0.23950	1.88	4.96	4.02	0.46733	.	0.658952	0.15421	N	0.263243	T	0.17874	0.0429	L	0.32530	0.975	0.24983	N	0.991583	P	0.36282	0.546	B	0.32980	0.156	T	0.10019	-1.0648	10	0.38643	T	0.18	.	8.6313	0.33922	0.0:0.7751:0.0:0.2249	.	160	Q9H501	ESF1_HUMAN	Q	160	ENSP00000202816:E160Q	ENSP00000202816:E160Q	E	-	1	0	ESF1	13711309	0.823000	0.29233	0.289000	0.24876	0.110000	0.19582	1.531000	0.36018	1.069000	0.40788	-0.218000	0.12543	GAA	ESF1	-	NULL		0.284	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	HGNC	protein_coding	OTTHUMT00000078049.1	C	NM_016649		13763309	-1	no_errors	ENST00000202816	ensembl	human	known	70_37	missense	SNP	0.568	G	G	13763309	C	G	13763309	3	3	168	1	0	0	0	0	1	0	0	0	5263	922	32	1	2129	1	ESF1	20	13763309	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	10040273	13763309	49262211	402	32119										
SUN5	140732	genome.wustl.edu	37	chr20	31573703	31573703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccagcaattgccaggtgtcaCgttgggctagaagaggcaag	14	9	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:31573703C>T	ENST00000356173.3	-	11	828	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	SUN5_ENST00000375523.3_Missense_Mutation_p.V221M	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	246	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCAGGTGTCACGTTGGGCTAG	0.562																																																	0													85	69	74					20																	31573703		2203	4300	6503	SO:0001583	missense	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.736G>A	20.37:g.31573703C>T	ENSP00000348496:p.Val246Met		A6NJ82|Q5T9R0	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.V246M	ENST00000356173.3	37	c.736	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098447	0.20552	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.47528	0.84;0.84	5.57	-8.34	0.00988	Sad1/UNC-like, C-terminal (2);	0.350260	0.28572	N	0.014870	T	0.26376	0.0644	L	0.33245	0.995	0.80722	D	1	P	0.35468	0.503	B	0.25506	0.061	T	0.04855	-1.0922	10	0.38643	T	0.18	-6.4459	15.3015	0.73955	0.0:0.3132:0.0:0.6868	.	246	Q8TC36	SUN5_HUMAN	M	246;221	ENSP00000348496:V246M;ENSP00000364673:V221M	ENSP00000348496:V246M	V	-	1	0	SUN5	31037364	0.036000	0.19791	0.257000	0.24404	0.531000	0.34715	-0.095000	0.11077	-1.709000	0.01399	-0.727000	0.03589	GTG	SUN5	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like		0.562	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	C	NM_080675		31573703	-1	no_errors	ENST00000356173	ensembl	human	known	70_37	missense	SNP	0.517	T	T	31573703	C	T	31573703	3	4	168	1	0	0	0	0	1	0	0	0	15424	536	19	2	415	2	SUN5	20	31573703	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	17810394	31573703	31451817	403	32120										
PIGU	128869	genome.wustl.edu	37	chr20	33173287	33173287	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtagaagaagacgttgatctGaaacacacatacaaagaaga	9	6	1	7			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:33173287G>C	ENST00000374820.2	-	8	840	c.820C>G	c.(820-822)Cag>Gag	p.Q274E	PIGU_ENST00000452740.2_Missense_Mutation_p.Q294E|PIGU_ENST00000480175.1_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	294	May be involved in recognition of long- chain fatty acids in GPI.				attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ACGTTGATCTGAAACACACAT	0.463																																																	0													165	155	158					20																	33173287		2203	4300	6503	SO:0001583	missense	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	15791	protein-coding gene	gene with protein product	"GPI transamidase subunit"	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.820C>G	20.37:g.33173287G>C	ENSP00000363953:p.Gln274Glu		Q7Z489|Q8N2F2	Missense_Mutation	SNP	pfam_PIG-U	p.Q294E	ENST00000374820.2	37	c.880		20	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648667	0.87958	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.85630	2.765	0.80722	D	1	D;P;D	0.59357	0.985;0.954;0.979	D;D;D	0.74023	0.981;0.932;0.982	T	0.82041	-0.0654	9	0.30078	T	0.28	.	19.1221	0.93367	0.0:0.0:1.0:0.0	.	294;274;294	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	E	294;274;294	.	ENSP00000217446:Q294E	Q	-	1	0	PIGU	32636948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.294000	0.96088	2.531000	0.85337	0.655000	0.94253	CAG	PIGU	-	pfam_PIG-U		0.463	PIGU-201	KNOWN	basic	protein_coding	PIGU	HGNC	protein_coding		G	NM_080476		33173287	-1	no_errors	ENST00000217446	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33173287	G	C	33173287	3	2	168	1	0	0	0	0	1	0	0	0	11924	1299	45	1	443	1	PIGU	20	33173287	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1599584	33173287	29852233	404	32121										
PROCR	10544	genome.wustl.edu	37	chr20	33764059	33764059	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttcgaagtggctgtgaatggGagctcctttgtgagtttccg	14	7	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:33764059G>C	ENST00000216968.4	+	3	493	c.411G>C	c.(409-411)ggG>ggC	p.G137G	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	137					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CTGTGAATGGGAGCTCCTTTG	0.597																																																	0													77	74	75					20																	33764059		2203	4300	6503	SO:0001819	synonymous_variant	10544			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.411G>C	20.37:g.33764059G>C			B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Silent	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.G137	ENST00000216968.4	37	c.411	CCDS13248.1	20																																																																																			PROCR	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.597	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	G			33764059	1	no_errors	ENST00000216968	ensembl	human	known	70_37	silent	SNP	0.998	C	C	33764059	G	C	33764059	2	2	168	1	0	0	0	0	0	0	0	1	12574	1161	41	1		1	PROCR	20	33764059	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	590772	33764059	29261461	405	32122										
FAM83C	128876	genome.wustl.edu	37	chr20	33875489	33875489	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcaatcaccacctcctggtaGagcgaggtaggaggagcgac	14	11	1	1	rs373959129		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:33875489G>C	ENST00000374408.3	-	4	1189	c.1093C>G	c.(1093-1095)Cta>Gta	p.L365V	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	365										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCTCCTGGTAGAGCGAGGTAG	0.642																																																	0													141	111	121					20																	33875489		2203	4300	6503	SO:0001583	missense	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1093C>G	20.37:g.33875489G>C	ENSP00000363529:p.Leu365Val		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	pfam_DUF1669	p.L365V	ENST00000374408.3	37	c.1093	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983210	0.35036	.	.	ENSG00000125998	ENST00000374408	T	0.08370	3.1	5.05	4.09	0.47781	.	0.461984	0.16105	N	0.229361	T	0.07593	0.0191	L	0.55213	1.73	0.09310	N	1	P	0.37466	0.596	B	0.30029	0.11	T	0.25222	-1.0138	10	0.17369	T	0.5	-25.1962	10.6125	0.45429	0.0899:0.0:0.9101:0.0	.	365	Q9BQN1	FA83C_HUMAN	V	365	ENSP00000363529:L365V	ENSP00000363529:L365V	L	-	1	2	FAM83C	33338903	0.049000	0.20398	0.930000	0.37139	0.941000	0.58515	1.397000	0.34543	2.519000	0.84933	0.561000	0.74099	CTA	FAM83C	-	NULL		0.642	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	G			33875489	-1	no_errors	ENST00000374408	ensembl	human	known	70_37	missense	SNP	0.190	C	C	33875489	G	C	33875489	3	2	168	1	0	0	0	0	1	0	0	0	5653	933	33	1	1154	1	FAM83C	20	33875489	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	111430	33875489	29150031	406	32123										
PREX1	57580	genome.wustl.edu	37	chr20	47258778	47258778	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	catgactggccccttgaggaGagcattgatggagtccacct	12	11	0	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:47258778G>C	ENST00000371941.3	-	29	3725	c.3703C>G	c.(3703-3705)Ctc>Gtc	p.L1235V	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000396220.1_Missense_Mutation_p.L1235V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1235					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCTTGAGGAGAGCATTGATG	0.592																																																	0													76	75	75					20																	47258778		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3703C>G	20.37:g.47258778G>C	ENSP00000361009:p.Leu1235Val		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1235V	ENST00000371941.3	37	c.3703	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	g	12.90	2.077035	0.36662	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38401	1.14;1.14	5.4	4.44	0.53790	.	0.155680	0.29444	U	0.012138	T	0.49167	0.1541	L	0.57536	1.79	0.39760	D	0.972017	B;P	0.51057	0.227;0.941	B;P	0.54664	0.139;0.758	T	0.54351	-0.8307	10	0.59425	D	0.04	.	14.091	0.64990	0.0725:0.0:0.9275:0.0	.	1235;532	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	V	1235	ENSP00000361009:L1235V;ENSP00000379522:L1235V	ENSP00000361009:L1235V	L	-	1	0	PREX1	46692185	0.998000	0.40836	0.843000	0.33291	0.309000	0.27889	2.741000	0.47426	1.278000	0.44430	0.639000	0.83563	CTC	PREX1	-	NULL		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47258778	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	0.906	C	C	47258778	G	C	47258778	3	2	168	1	0	0	0	0	1	0	0	0	12503	942	33	1	1324	1	PREX1	20	47258778	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	13383289	47258778	15766742	407	32124										
TAF4	6874	genome.wustl.edu	37	chr20	60585161	60585161	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcgctgaggagtccccgtctGaacagccgtcgccgtcccaa	12	16	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:60585161G>A	ENST00000252996.4	-	4	1701	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	568					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTCCCCGTCTGAACAGCCGTC	0.607																																																	0													97	79	85					20																	60585161		2203	4300	6503	SO:0001587	stop_gained	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1702C>T	20.37:g.60585161G>A	ENSP00000252996:p.Gln568*		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Nonsense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.Q568*	ENST00000252996.4	37	c.1702	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.002550	0.97189	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	.	.	.	4.8	4.8	0.61643	.	0.563953	0.18511	N	0.139045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-7.3974	17.8435	0.88722	0.0:0.0:1.0:0.0	.	.	.	.	X	568;432	.	ENSP00000252996:Q568X	Q	-	1	0	TAF4	60018556	1.000000	0.71417	0.969000	0.41365	0.174000	0.22865	6.757000	0.74924	2.226000	0.72624	0.313000	0.20887	CAG	TAF4	-	NULL		0.607	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	G	NM_003185		60585161	-1	no_errors	ENST00000252996	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	60585161	G	A	60585161	4	1	168	1	0	0	0	0	0	1	0	0	15556	1299	45	1	1603	1	TAF4	20	60585161	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	13326383	60585161	2440359	408	32125										
RPS21	6227	genome.wustl.edu	37	chr20	60962962	60962962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atgctatctgcggggccattCgtaggatggtgagtgtttcc	14	8	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:60962962C>T	ENST00000343986.4	+	4	217	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	RPS21_ENST00000450116.2_Missense_Mutation_p.R60C|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	60					cellular protein metabolic process (GO:0044267)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGGGCCATTCGTAGGATGGT	0.507																																																	0													127	122	124					20																	60962962		2202	4300	6502	SO:0001583	missense	6227			L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"S ribosomal proteins"	10409	protein-coding gene	gene with protein product	"8.2 kDa differentiation factor"	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.178C>T	20.37:g.60962962C>T	ENSP00000345957:p.Arg60Cys		P35265	Missense_Mutation	SNP	pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e	p.R60C	ENST00000343986.4	37	c.178	CCDS13497.1	20	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545996	0.65198	.	.	ENSG00000171858	ENST00000317311;ENST00000370592;ENST00000343986;ENST00000450116	.	.	.	5.11	4.16	0.48862	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.80722	D	1	B;B	0.32245	0.361;0.21	B;B	0.32149	0.041;0.141	T	0.52946	-0.8507	7	0.56958	D	0.05	0.452	12.7796	0.57469	0.1651:0.8349:0.0:0.0	.	60;60	Q9BYK1;P63220	.;RS21_HUMAN	C	60	.	ENSP00000324438:R60C	R	+	1	0	RPS21	60396357	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	3.967000	0.56802	1.131000	0.42111	0.557000	0.71058	CGT	RPS21	-	pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e		0.507	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS21	HGNC	protein_coding	OTTHUMT00000080031.2	C	NM_001024		60962962	1	no_errors	ENST00000370592	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60962962	C	T	60962962	3	4	168	1	0	0	0	0	1	0	0	0	13663	884	31	1	188	1	RPS21	20	60962962	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	377801	60962962	2062558	409	32126										
PCMTD2	55251	genome.wustl.edu	37	chr20	62904609	62904609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gcagcctccaggacttggctCgcatcgccatccggggcacc	12	17	0	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr20:62904609C>T	ENST00000308824.6	+	6	869	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PCMTD2_ENST00000369758.4_Missense_Mutation_p.R221C|PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000609372.1_Missense_Mutation_p.R98C|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	248						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R248C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGACTTGGCTCGCATCGCCAT	0.512																																																	1	Substitution - Missense(1)	endometrium(1)											49	53	52					20																	62904609		2203	4300	6503	SO:0001583	missense	55251			AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 36"	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.742C>T	20.37:g.62904609C>T	ENSP00000307854:p.Arg248Cys		E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	pfam_PCMT	p.R248C	ENST00000308824.6	37	c.742	CCDS13559.1	20	.	.	.	.	.	.	.	.	.	.	.	25.6	4.655347	0.88056	.	.	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.72394	-0.65;1.01;-0.47	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.86220	0.1630	10	0.87932	D	0	-22.3297	19.2064	0.93732	0.0:1.0:0.0:0.0	.	221;248	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	C	221;248;24	ENSP00000358773:R221C;ENSP00000307854:R248C;ENSP00000266078:R24C	ENSP00000266078:R24C	R	+	1	0	PCMTD2	62375053	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	4.088000	0.57678	2.523000	0.85059	0.655000	0.94253	CGC	PCMTD2	-	NULL		0.512	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCMTD2	HGNC	protein_coding	OTTHUMT00000080301.1	C	NM_018257		62904609	1	no_errors	ENST00000308824	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62904609	C	T	62904609	3	4	168	1	0	0	0	0	1	0	0	0	11611	884	31	1	760	1	PCMTD2	20	62904609	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	1941647	62904609	120911	410	32127										
BACH1	571	genome.wustl.edu	37	chr21	30714831	30714831	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aagtttgtaaagaagcagctCtgagtcaagaacaaatacag	9	6	2	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:30714831C>G	ENST00000399921.1	+	5	2131	c.1888C>G	c.(1888-1890)Ctg>Gtg	p.L630V	BACH1_ENST00000286800.3_Missense_Mutation_p.L630V	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGAAGCAGCTCTGAGTCAAGA	0.403																																																	0													105	111	109					21																	30714831		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1888C>G	21.37:g.30714831C>G	ENSP00000382805:p.Leu630Val		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.L630V	ENST00000399921.1	37	c.1888	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775602	0.70107	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.74209	-0.82;-0.82	6.01	2.81	0.32909	.	0.000000	0.56097	D	0.000033	T	0.79563	0.4467	M	0.61703	1.905	0.38820	D	0.955607	D	0.65815	0.995	P	0.58331	0.837	T	0.80132	-0.1510	10	0.45353	T	0.12	-12.7114	11.5598	0.50769	0.0:0.7186:0.0:0.2814	.	630	O14867	BACH1_HUMAN	V	630	ENSP00000286800:L630V;ENSP00000382805:L630V	ENSP00000286800:L630V	L	+	1	2	BACH1	29636702	0.947000	0.32204	0.890000	0.34922	0.975000	0.68041	2.058000	0.41374	0.877000	0.35895	0.650000	0.86243	CTG	BACH1	-	NULL		0.403	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	C	NM_206866		30714831	1	no_errors	ENST00000286800	ensembl	human	known	70_37	missense	SNP	0.988	G	G	30714831	C	G	30714831	3	3	168	1	0	0	0	0	1	0	0	0	1284	912	32	1	1902	1	BACH1	21	30714831	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09		30714831	17415064	411	32128										
TIAM1	7074	genome.wustl.edu	37	chr21	32598150	32598150	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atcttctgttccagttttttGatctctgatttcaggagtcg	8	8	4	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:32598150G>C	ENST00000286827.3	-	8	2172	c.1701C>G	c.(1699-1701)atC>atG	p.I567M	TIAM1_ENST00000541036.1_Missense_Mutation_p.I567M|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	567					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCAGTTTTTTGATCTCTGATT	0.463																																																	0													164	146	152					21																	32598150		2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1701C>G	21.37:g.32598150G>C	ENSP00000286827:p.Ile567Met		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.I567M	ENST00000286827.3	37	c.1701	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082053	0.55861	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.30981	1.51;1.51	4.49	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.68593	2.085	0.53005	D	0.999967	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.81914	0.995;0.967;0.989;0.994	T	0.45644	-0.9247	10	0.87932	D	0	.	4.8234	0.13403	0.1659:0.0:0.5455:0.2886	.	567;567;408;567	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	M	567;408;567	ENSP00000286827:I567M;ENSP00000441570:I567M	ENSP00000286827:I567M	I	-	3	3	TIAM1	31520021	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	1.208000	0.32345	1.113000	0.41760	0.650000	0.86243	ATC	TIAM1	-	NULL		0.463	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32598150	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32598150	G	C	32598150	3	2	168	1	0	0	0	0	1	0	0	0	15920	1280	45	1	3162	1	TIAM1	21	32598150	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1883319	32598150	15531745	412	32129										
TIAM1	7074	genome.wustl.edu	37	chr21	32598201	32598201	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tccttgtggtggtgcctcgcGaccgcagtggcgcaggcaga	16	12	0	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:32598201G>A	ENST00000286827.3	-	8	2121	c.1650C>T	c.(1648-1650)gtC>gtT	p.V550V	TIAM1_ENST00000541036.1_Silent_p.V550V|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	550					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGTGCCTCGCGACCGCAGTGG	0.512																																																	0													118	108	112					21																	32598201		2203	4300	6503	SO:0001819	synonymous_variant	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1650C>T	21.37:g.32598201G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.V550	ENST00000286827.3	37	c.1650	CCDS13609.1	21																																																																																			TIAM1	-	NULL		0.512	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32598201	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	silent	SNP	0.698	A	A	32598201	G	A	32598201	2	1	168	1	0	0	0	0	0	0	0	1	15920	1045	37	1		1	TIAM1	21	32598201	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	51	32598201	15531694	413	32130										
OLIG2	10215	genome.wustl.edu	37	chr21	34399339	34399339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agctgagcgccgagctgcgcGgcgctatgggctctgcgggc	18	13	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:34399339G>A	ENST00000333337.3	+	1	1097	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	AP000282.2_ENST00000420356.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.G57S|AP000282.2_ENST00000454622.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	57					myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						CGAGCTGCGCGGCGCTATGGG	0.701			T	TRA@	T-ALL																																			Dom	yes		21	21q22.11	10215	oligodendrocyte lineage transcription factor 2 (BHLHB1)		L	0													14	18	17					21																	34399339		2190	4290	6480	SO:0001583	missense	10215			U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"Basic helix-loop-helix proteins"	9398	protein-coding gene	gene with protein product	"oligodendrocyte-specific bHLH transcription factor 2", "protein kinase C binding protein 2", "human protein kinase C-binding protein RACK17", "basic domain, helix-loop-helix protein, class B, 1"	606386	"protein kinase C binding protein 2"	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.169G>A	21.37:g.34399339G>A	ENSP00000331040:p.Gly57Ser		B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.G57S	ENST00000333337.3	37	c.169	CCDS13620.1	21	.	.	.	.	.	.	.	.	.	.	G	0.859	-0.735959	0.03111	.	.	ENSG00000205927	ENST00000382357;ENST00000333337;ENST00000430860	D;D;D	0.88586	-2.4;-2.4;-2.4	3.63	-0.902	0.10537	.	1.519180	0.04524	N	0.385180	T	0.69079	0.3071	N	0.03608	-0.345	0.09310	N	0.999999	P	0.35011	0.48	B	0.26094	0.066	T	0.63296	-0.6669	10	0.07482	T	0.82	.	6.5832	0.22607	0.3551:0.1308:0.5141:0.0	.	57	Q13516	OLIG2_HUMAN	S	57	ENSP00000371794:G57S;ENSP00000331040:G57S;ENSP00000391183:G57S	ENSP00000331040:G57S	G	+	1	0	OLIG2	33321209	0.000000	0.05858	0.288000	0.24862	0.062000	0.15995	0.367000	0.20382	-0.345000	0.08325	-2.069000	0.00389	GGC	OLIG2	-	NULL		0.701	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG2	HGNC	protein_coding	OTTHUMT00000139663.1	G	NM_005806		34399339	1	no_errors	ENST00000333337	ensembl	human	known	70_37	missense	SNP	0.035	A	A	34399339	G	A	34399339	3	1	168	1	0	0	0	0	1	0	0	0	10885	1116	39	2	171	2	OLIG2	21	34399339	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1801138	34399339	13730556	414	32131										
RIPK4	54101	genome.wustl.edu	37	chr21	43171267	43171267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtcacacacctgtatacatCgtgcttggtgtcgaagagcc	10	11	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr21:43171267C>T	ENST00000352483.2	-	3	677	c.613G>A	c.(613-615)Gat>Aat	p.D205N	RIPK4_ENST00000542057.1_Missense_Mutation_p.D142N|RIPK4_ENST00000544709.1_Missense_Mutation_p.D142N|RIPK4_ENST00000332512.3_Missense_Mutation_p.D205N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGTATACATCGTGCTTGGTG	0.592																																																	0													98	82	88					21																	43171267		2203	4300	6503	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.613G>A	21.37:g.43171267C>T	ENSP00000330161:p.Asp205Asn		Q96KH0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D205N	ENST00000352483.2	37	c.613		21	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931601	0.92389	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000018	D	0.97049	0.9036	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99191	1.0870	10	0.87932	D	0	-31.1853	16.3904	0.83533	0.0:1.0:0.0:0.0	.	205	P57078-2	.	N	205;205;142;142	ENSP00000332454:D205N;ENSP00000330161:D205N;ENSP00000441754:D142N;ENSP00000442901:D142N	ENSP00000332454:D205N	D	-	1	0	RIPK4	42044336	1.000000	0.71417	0.931000	0.37212	0.816000	0.46133	7.572000	0.82409	2.088000	0.63022	0.561000	0.74099	GAT	RIPK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.592	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	HGNC	protein_coding		C	NM_020639		43171267	-1	no_errors	ENST00000352483	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43171267	C	T	43171267	3	4	168	1	0	0	0	0	1	0	0	0	13413	884	31	1	1765	1	RIPK4	21	43171267	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	8771928	43171267	4958628	415	32132										
SMARCB1	6598	genome.wustl.edu	37	chr22	24159068	24159068	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	catcagacagcagatcgagtCctaccccacggacagcatcc	8	16	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:24159068C>G	ENST00000263121.7	+	6	936	c.740C>G	c.(739-741)tCc>tGc	p.S247C	SMARCB1_ENST00000407082.3_Missense_Mutation_p.S201C|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Missense_Mutation_p.S256C|SMARCB1_ENST00000407422.3_Missense_Mutation_p.S238C	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	247	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CAGATCGAGTCCTACCCCACG	0.567			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	4	Unknown(3)|Deletion - Frameshift(1)	central_nervous_system(3)|soft_tissue(1)											123	97	106					22																	24159068		2203	4300	6503	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.740C>G	22.37:g.24159068C>G	ENSP00000263121:p.Ser247Cys		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.S247C	ENST00000263121.7	37	c.740	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673150	0.88445	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.17	5.17	0.71159	.	0.051550	0.85682	D	0.000000	T	0.81592	0.4855	L	0.34521	1.04	0.80722	D	1	P;P;P	0.47604	0.898;0.658;0.767	P;P;P	0.59115	0.673;0.617;0.852	D	0.83410	0.0027	10	0.72032	D	0.01	-15.5117	18.0935	0.89481	0.0:1.0:0.0:0.0	.	256;238;247	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	C	256;247;238;201	ENSP00000340883:S256C;ENSP00000263121:S247C;ENSP00000383984:S238C;ENSP00000385226:S201C	ENSP00000263121:S247C	S	+	2	0	SMARCB1	22489068	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.753000	0.85153	2.602000	0.87976	0.585000	0.79938	TCC	SMARCB1	-	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx		0.567	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	C	NM_003073		24159068	1	no_errors	ENST00000263121	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24159068	C	G	24159068	3	3	168	1	0	0	0	0	1	0	0	0	14804	855	30	1	762	1	SMARCB1	22	24159068	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09		24159068	27145498	416	32133										
THOC5	8563	genome.wustl.edu	37	chr22	29908040	29908040	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcatcgttgctgttggttttCtcccctttccagttcaaaca	6	12	3	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:29908040C>T	ENST00000490103.1	-	18	1889	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Silent_p.E589E|THOC5_ENST00000397871.1_Silent_p.E589E|THOC5_ENST00000397873.2_Silent_p.E589E	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	589					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTGGTTTTCTCCCCTTTCC	0.582																																																	0													139	102	114					22																	29908040		2203	4300	6503	SO:0001819	synonymous_variant	8563			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1767G>A	22.37:g.29908040C>T			O60839|Q9UPZ5	Silent	SNP	pfam_THO_Thoc5	p.E589	ENST00000490103.1	37	c.1767	CCDS13859.1	22																																																																																			THOC5	-	NULL		0.582	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	HGNC	protein_coding	OTTHUMT00000322097.1	C	NM_003678		29908040	-1	no_errors	ENST00000397871	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29908040	C	T	29908040	2	4	168	1	0	0	0	0	0	0	0	1	15898	912	32	1		1	THOC5	22	29908040	Silent	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	5748972	29908040	21396526	417	32134										
TCN2	6948	genome.wustl.edu	37	chr22	31011416	31011416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcttgaaggcccagacccccGagggccactttgggaatgtc	12	13	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:31011416G>A	ENST00000215838.3	+	5	1203	c.709G>A	c.(709-711)Gag>Aag	p.E237K	TCN2_ENST00000407817.3_Missense_Mutation_p.E210K|TCN2_ENST00000405742.3_Missense_Mutation_p.E233K			P20062	TCO2_HUMAN	transcobalamin II	237					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAGACCCCCGAGGGCCACTT	0.582																																																	0													69	62	64					22																	31011416		2203	4300	6503	SO:0001583	missense	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.709G>A	22.37:g.31011416G>A	ENSP00000215838:p.Glu237Lys		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.E237K	ENST00000215838.3	37	c.709	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827706	0.32329	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.14144	2.53;2.53;2.53	5.82	2.53	0.30540	.	0.326617	0.37304	N	0.002142	T	0.15392	0.0371	M	0.77616	2.38	0.42323	D	0.992263	P;B;B	0.38504	0.634;0.45;0.45	B;B;B	0.32289	0.143;0.062;0.062	T	0.03051	-1.1078	10	0.52906	T	0.07	-11.8859	9.3953	0.38399	0.2144:0.0:0.7856:0.0	.	210;233;237	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	237;233;210	ENSP00000215838:E237K;ENSP00000385914:E233K;ENSP00000384914:E210K	ENSP00000215838:E237K	E	+	1	0	TCN2	29341416	0.961000	0.32948	0.293000	0.24932	0.100000	0.18952	1.737000	0.38197	0.333000	0.23563	0.561000	0.74099	GAG	TCN2	-	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase		0.582	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	G	NM_000355		31011416	1	no_errors	ENST00000215838	ensembl	human	known	70_37	missense	SNP	0.587	A	A	31011416	G	A	31011416	3	1	168	1	0	0	0	0	1	0	0	0	15737	1059	37	1	727	1	TCN2	22	31011416	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1103376	31011416	20293150	418	32135										
LIMK2	3985	genome.wustl.edu	37	chr22	31668686	31668686	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tggatggcccctgagatgctGaacggtgagtcctgaagccc	14	11	0	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:31668686G>A	ENST00000331728.4	+	13	1668	c.1554G>A	c.(1552-1554)ctG>ctA	p.L518L	LIMK2_ENST00000406516.1_Silent_p.L440L|LIMK2_ENST00000444929.2_Silent_p.L272L|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000333611.4_Silent_p.L497L|LIMK2_ENST00000340552.4_Silent_p.L497L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	518	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTGAGATGCTGAACGGTGAGT	0.612											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55	53	53					22																	31668686		2203	4300	6503	SO:0001819	synonymous_variant	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1554G>A	22.37:g.31668686G>A		826	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L518	ENST00000331728.4	37	c.1554	CCDS13891.1	22																																																																																			LIMK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.612	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	G	NM_016733		31668686	1	no_errors	ENST00000331728	ensembl	human	known	70_37	silent	SNP	0.984	A	A	31668686	G	A	31668686	2	1	168	1	0	0	0	0	0	0	0	1	8822	1277	45	1		1	LIMK2	22	31668686	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	657270	31668686	19635880	419	32136										
GGA1	26088	genome.wustl.edu	37	chr22	38021921	38021921	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccctgagcagcccagtgcctCagtttccctgcttgacgacg	10	16	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38021921C>T	ENST00000343632.4	+	11	1444	c.1058C>T	c.(1057-1059)tCa>tTa	p.S353L	GGA1_ENST00000406772.1_Missense_Mutation_p.S280L|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000381756.5_Missense_Mutation_p.S370L|GGA1_ENST00000337437.4_Missense_Mutation_p.S320L	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	353	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCCAGTGCCTCAGTTTCCCTG	0.677																																																	0													63	60	61					22																	38021921		2203	4300	6503	SO:0001583	missense	26088			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1058C>T	22.37:g.38021921C>T	ENSP00000341344:p.Ser353Leu		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.S353L	ENST00000343632.4	37	c.1058	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	c	20.6	4.025833	0.75390	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000337437;ENST00000406772	T;T;T;T	0.34472	2.38;2.09;1.36;1.36	4.33	4.33	0.51752	.	0.634241	0.15998	N	0.234496	T	0.38957	0.1060	M	0.61703	1.905	0.80722	D	1	B;B	0.25441	0.126;0.042	B;B	0.23852	0.033;0.049	T	0.26883	-1.0090	10	0.33141	T	0.24	-5.1643	17.0278	0.86452	0.0:1.0:0.0:0.0	.	370;353	Q6IC75;Q9UJY5	.;GGA1_HUMAN	L	353;370;320;280	ENSP00000341344:S353L;ENSP00000371175:S370L;ENSP00000338647:S320L;ENSP00000385287:S280L	ENSP00000338647:S320L	S	+	2	0	GGA1	36351867	0.523000	0.26274	0.935000	0.37517	0.980000	0.70556	1.650000	0.37292	2.258000	0.74832	0.558000	0.71614	TCA	GGA1	-	NULL		0.677	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	C	NM_013365		38021921	1	no_errors	ENST00000343632	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38021921	C	T	38021921	3	4	168	1	0	0	0	0	1	0	0	0	6371	838	29	1	1166	1	GGA1	22	38021921	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6353235	38021921	13282645	420	32137										
TRIOBP	11078	genome.wustl.edu	37	chr22	38130627	38130627	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cagcctctgggggtgtggcaGagtcaggaggaaccgccagg	18	10	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38130627G>A	ENST00000406386.3	+	9	4539	c.4284G>A	c.(4282-4284)caG>caA	p.Q1428Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1428					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGTGTGGCAGAGTCAGGAGG	0.667																																																	0													6	8	7					22																	38130627		1866	4057	5923	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4284G>A	22.37:g.38130627G>A			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q1428	ENST00000406386.3	37	c.4284	CCDS43015.1	22																																																																																			TRIOBP	-	NULL		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130627	1	no_errors	ENST00000406386	ensembl	human	known	70_37	silent	SNP	0.001	A	A	38130627	G	A	38130627	2	1	168	1	0	0	0	0	0	0	0	1	16584	933	33	1		1	TRIOBP	22	38130627	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	108706	38130627	13173939	421	32138			2	130		3	3	761	G		5.916715e-05
TRIOBP	11078	genome.wustl.edu	37	chr22	38130869	38130869	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccccagagaactaggaaagaGaagcccactcacgagccccc	9	16	1	2	rs560895056		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38130869G>C	ENST00000406386.3	+	9	4781	c.4526G>C	c.(4525-4527)aGa>aCa	p.R1509T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1509					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTAGGAAAGAGAAGCCCACTC	0.647																																																	0													26	30	29					22																	38130869		1877	4089	5966	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4526G>C	22.37:g.38130869G>C	ENSP00000384312:p.Arg1509Thr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1509T	ENST00000406386.3	37	c.4526	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	3.632	-0.075430	0.07184	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.18502	2.21	4.57	2.42	0.29668	.	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.43179	D	0.994993	B	0.20052	0.041	B	0.19391	0.025	T	0.24512	-1.0158	9	0.19590	T	0.45	.	7.2874	0.26346	0.2073:0.0:0.7927:0.0	.	1509	Q9H2D6	TARA_HUMAN	T	1509;1470	ENSP00000384312:R1509T	ENSP00000384312:R1509T	R	+	2	0	TRIOBP	36460815	0.703000	0.27826	0.967000	0.41034	0.022000	0.10575	0.749000	0.26320	1.144000	0.42321	0.514000	0.50259	AGA	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130869	1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.734	C	C	38130869	G	C	38130869	3	2	168	1	0	0	0	0	1	0	0	0	16584	942	33	1	4552	1	TRIOBP	22	38130869	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	242	38130869	13173697	422	32139			2	130		3	3	761	G		5.916715e-05
TRIOBP	11078	genome.wustl.edu	37	chr22	38131387	38131387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ccgcaactctggcaggcctgGagcagacgggccccctgggg	16	15	1	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38131387G>A	ENST00000406386.3	+	9	5299	c.5044G>A	c.(5044-5046)Gag>Aag	p.E1682K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1682					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCAGGCCTGGAGCAGACGGG	0.652											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													20	23	22					22																	38131387		1952	4135	6087	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5044G>A	22.37:g.38131387G>A	ENSP00000384312:p.Glu1682Lys	875	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1682K	ENST00000406386.3	37	c.5044	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136059	0.37728	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.22945	1.93	5.0	3.95	0.45737	.	.	.	.	.	T	0.18341	0.0440	L	0.27053	0.805	0.80722	D	1	P	0.37061	0.58	B	0.35114	0.196	T	0.04242	-1.0966	9	0.56958	D	0.05	.	11.5054	0.50463	0.0:0.1818:0.8182:0.0	.	1682	Q9H2D6	TARA_HUMAN	K	1682;1643	ENSP00000384312:E1682K	ENSP00000384312:E1682K	E	+	1	0	TRIOBP	36461333	0.998000	0.40836	0.944000	0.38274	0.014000	0.08584	1.188000	0.32102	1.181000	0.42912	0.460000	0.39030	GAG	TRIOBP	-	NULL		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38131387	1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.956	A	A	38131387	G	A	38131387	3	1	168	1	0	0	0	0	1	0	0	0	16584	1175	41	1	5070	1	TRIOBP	22	38131387	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	518	38131387	13173179	423	32140			2	130		3	3	761	G		5.916715e-05
TRIOBP	11078	genome.wustl.edu	37	chr22	38150912	38150912	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cccctcgctcaccaccacctCtacttcgcagtggaagaaac	6	18	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:38150912C>G	ENST00000406386.3	+	13	5663	c.5408C>G	c.(5407-5409)tCt>tGt	p.S1803C	TRIOBP_ENST00000403663.2_Missense_Mutation_p.S90C|TRIOBP_ENST00000407319.2_Missense_Mutation_p.S90C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1803	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCACCACCTCTACTTCGCAG	0.517																																																	0													182	137	152					22																	38150912		2203	4300	6503	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5408C>G	22.37:g.38150912C>G	ENSP00000384312:p.Ser1803Cys		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1803C	ENST00000406386.3	37	c.5408	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716917	0.30413	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000452519;ENST00000417857	D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	4.69	-0.0141	0.13982	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.88503	0.6454	L	0.53671	1.685	0.09310	N	1	B;B;B	0.15473	0.001;0.003;0.013	B;B;B	0.17098	0.002;0.003;0.017	T	0.77792	-0.2455	9	0.52906	T	0.07	.	1.9286	0.03322	0.1128:0.2679:0.3268:0.2924	.	90;90;1803	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	C	1803;90;90;49;19;19	ENSP00000384312:S1803C;ENSP00000383913:S90C;ENSP00000386026:S90C;ENSP00000396946:S49C;ENSP00000407542:S19C;ENSP00000387881:S19C	ENSP00000386026:S90C	S	+	2	0	TRIOBP	36480858	0.000000	0.05858	0.003000	0.11579	0.121000	0.20230	0.366000	0.20365	0.050000	0.15949	0.655000	0.94253	TCT	TRIOBP	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.517	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	C			38150912	1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.000	G	G	38150912	C	G	38150912	3	3	168	1	0	0	0	0	1	0	0	0	16584	913	32	1	5637	1	TRIOBP	22	38150912	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	19525	38150912	13153654	424	32141										
MCHR1	2847	genome.wustl.edu	37	chr22	41075624	41075624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gggtggaggggagctcagctCggttgtgggagcaggcgacc	21	8	1	0	rs200469291		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:41075624C>T	ENST00000249016.4	+	1	871	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	MCHR1_ENST00000498400.1_Intron|MCHR1_ENST00000381433.2_Missense_Mutation_p.R59W	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	59					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GAGCTCAGCTCGGTTGTGGGA	0.682																																																	0													37	43	41					22																	41075624		2203	4299	6502	SO:0001583	missense	2847				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.175C>T	22.37:g.41075624C>T	ENSP00000249016:p.Arg59Trp		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn	p.R59W	ENST00000249016.4	37	c.175	CCDS14004.1	22	.	.	.	.	.	.	.	.	.	.	C	0.590	-0.833230	0.02713	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.64803	-0.12;0.36	3.64	-1.95	0.07548	.	4.485790	0.00931	N	0.002715	T	0.29783	0.0744	N	0.08118	0	0.09310	N	1	P	0.42375	0.778	B	0.16722	0.016	T	0.35574	-0.9783	10	0.51188	T	0.08	.	1.1187	0.01720	0.1754:0.4336:0.1715:0.2195	.	59	Q99705	MCHR1_HUMAN	W	59	ENSP00000249016:R59W;ENSP00000370841:R59W	ENSP00000249016:R59W	R	+	1	2	MCHR1	39405570	0.000000	0.05858	0.011000	0.14972	0.004000	0.04260	-0.206000	0.09398	-0.230000	0.09840	-1.539000	0.00912	CGG	MCHR1	-	NULL		0.682	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR1	HGNC	protein_coding	OTTHUMT00000317142.1	C	NM_005297		41075624	1	no_errors	ENST00000249016	ensembl	human	known	70_37	missense	SNP	0.008	T	T	41075624	C	T	41075624	3	4	168	1	0	0	0	0	1	0	0	0	9405	875	31	1	177	1	MCHR1	22	41075624	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	2924712	41075624	10228942	425	32142										
SREBF2	6721	genome.wustl.edu	37	chr22	42294721	42294721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcagctggctccagggagacGatgcagctgtgcgctctcat	13	12	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:42294721G>A	ENST00000361204.4	+	15	2840	c.2674G>A	c.(2674-2676)Gat>Aat	p.D892N	SREBF2_ENST00000491541.1_3'UTR|MIR33A_ENST00000385197.1_RNA	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	892					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCAGGGAGACGATGCAGCTGT	0.562																																																	0													121	95	104					22																	42294721		2203	4300	6503	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2674G>A	22.37:g.42294721G>A	ENSP00000354476:p.Asp892Asn		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.D892N	ENST00000361204.4	37	c.2674	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.606352	0.96626	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.09630	2.96	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01894	-1.1252	10	0.37606	T	0.19	-25.0849	19.2126	0.93763	0.0:0.0:1.0:0.0	.	892	Q12772	SRBP2_HUMAN	N	892	ENSP00000354476:D892N	ENSP00000354476:D892N	D	+	1	0	SREBF2	40624667	1.000000	0.71417	0.269000	0.24586	0.990000	0.78478	7.184000	0.77705	2.559000	0.86315	0.655000	0.94253	GAT	SREBF2	-	NULL		0.562	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	G	NM_004599		42294721	1	no_errors	ENST00000361204	ensembl	human	known	70_37	missense	SNP	0.999	A	A	42294721	G	A	42294721	3	1	168	1	0	0	0	0	1	0	0	0	15172	1058	37	1	2732	1	SREBF2	22	42294721	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	1219097	42294721	9009845	426	32143										
TCF20	6942	genome.wustl.edu	37	chr22	42606778	42606778	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tgtatcgttctccttctcttCagccttggggtttgcctcag	9	12	4	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:42606778C>T	ENST00000359486.3	-	1	4670	c.4534G>A	c.(4534-4536)Gaa>Aaa	p.E1512K	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.E1512K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCCTTCTCTTCAGCCTTGGGG	0.502																																																	0													81	78	79					22																	42606778		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4534G>A	22.37:g.42606778C>T	ENSP00000352463:p.Glu1512Lys		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.E1512K	ENST00000359486.3	37	c.4534	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408528	0.62399	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59906	0.23;0.23	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.67069	0.2854	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	T	0.65315	-0.6198	10	0.40728	T	0.16	-19.2679	19.1925	0.93672	0.0:1.0:0.0:0.0	.	1512;1512	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	1512	ENSP00000352463:E1512K;ENSP00000335561:E1512K	ENSP00000335561:E1512K	E	-	1	0	TCF20	40936722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.726000	0.54977	2.767000	0.95098	0.655000	0.94253	GAA	TCF20	-	NULL		0.502	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	C	NM_181492		42606778	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42606778	C	T	42606778	3	4	168	1	0	0	0	0	1	0	0	0	15720	835	29	1	1386	1	TCF20	22	42606778	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	312057	42606778	8697788	427	32144										
MOV10L1	54456	genome.wustl.edu	37	chr22	50598170	50598170	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atataaaggttggatcagtaGaggagtttcaaggacaagag	13	3	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chr22:50598170G>A	ENST00000262794.5	+	24	3363	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1094K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1094K|MOV10L1_ENST00000395852.1_Missense_Mutation_p.E221K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E1074K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1094					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGATCAGTAGAGGAGTTTCA	0.438																																																	0													169	158	162					22																	50598170		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3280G>A	22.37:g.50598170G>A	ENSP00000262794:p.Glu1094Lys		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.E1094K	ENST00000262794.5	37	c.3280	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	.	25.3	4.628390	0.87560	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000395852	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.36	5.36	0.76844	.	0.141423	0.64402	D	0.000005	D	0.96852	0.8972	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.999	D	0.97569	1.0103	10	0.87932	D	0	-35.311	17.8849	0.88851	0.0:0.0:1.0:0.0	.	1074;221;1094;1094	F5H403;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	1094;1094;1094;1074;221	ENSP00000438978:E1094K;ENSP00000262794:E1094K;ENSP00000379199:E1094K;ENSP00000438542:E1074K;ENSP00000379193:E221K	ENSP00000262794:E1094K	E	+	1	0	MOV10L1	48940297	1.000000	0.71417	0.959000	0.39883	0.564000	0.35744	8.837000	0.92110	2.499000	0.84300	0.544000	0.68410	GAG	MOV10L1	-	NULL		0.438	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50598170	1	no_errors	ENST00000262794	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50598170	G	A	50598170	3	1	168	1	0	0	0	0	1	0	0	0	9742	943	33	1	3427	1	MOV10L1	22	50598170	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	7991392	50598170	706396	428	32145										
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765223	27765223	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acgatgccagcacagaaaatCgaagctcagaccaagaaagc	9	11	1	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:27765223C>T	ENST00000451261.2	+	5	610	c.211C>T	c.(211-213)Cga>Tga	p.R71*		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	71										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CACAGAAAATCGAAGCTCAGA	0.488																																																	0													83	65	70					X																	27765223		692	1591	2283	SO:0001587	stop_gained	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.211C>T	X.37:g.27765223C>T	ENSP00000462745:p.Arg71*		B2RXH9|J3KT06	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R71*	ENST00000451261.2	37	c.211	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL		0.488	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	C	XM_293354		27765223	1	no_errors	ENST00000451261	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	27765223	C	T	27765223	4	4	168	1	0	0	0	0	0	1	0	0	4283	876	31	1	213	1	DCAF8L2	23	27765223	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09		27765223	127505337	429	32146										
TSPAN7	7102	genome.wustl.edu	37	chrX	38535082	38535082	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atccccaggatctacacaatCtgactgtggccgccaccaaa	7	15	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:38535082C>G	ENST00000378482.2	+	5	742	c.565C>G	c.(565-567)Ctg>Gtg	p.L189V	TM4SF2_ENST00000465127.1_Missense_Mutation_p.L219V|TSPAN7_ENST00000545599.1_Missense_Mutation_p.L163V|TSPAN7_ENST00000422612.2_Missense_Mutation_p.L215V|TSPAN7_ENST00000286824.6_Missense_Mutation_p.L206V	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	189					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCTACACAATCTGACTGTGGC	0.537																																																	0													58	47	51					X																	38535082		2202	4300	6502	SO:0001583	missense	7102			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"CD molecules", "Tetraspanins"	11854	protein-coding gene	gene with protein product		300096	"transmembrane 4 superfamily member 2", "mental retardation, X-linked 58"	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.565C>G	X.37:g.38535082C>G	ENSP00000367743:p.Leu189Val		B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L215V	ENST00000378482.2	37	c.643	CCDS14248.1	X	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049277	0.36181	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.91	4.98	0.66077	Tetraspanin, EC2 domain (1);	0.830865	0.10659	N	0.648947	T	0.72128	0.3422	L	0.47190	1.495	0.30479	N	0.772579	B;B;B	0.18741	0.004;0.03;0.002	B;B;B	0.24701	0.018;0.055;0.011	T	0.64550	-0.6381	9	.	.	.	.	10.6635	0.45717	0.4562:0.5438:0.0:0.0	.	206;215;189	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	V	219;189;215;206;163	ENSP00000417050:L219V;ENSP00000367743:L189V;ENSP00000388954:L215V;ENSP00000286824:L206V;ENSP00000441540:L163V	.	L	+	1	2	RP5-972B16.2;TSPAN7	38420026	0.990000	0.36364	1.000000	0.80357	0.977000	0.68977	2.144000	0.42197	2.504000	0.84457	0.600000	0.82982	CTG	TSPAN7	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.537	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN7	HGNC	protein_coding	OTTHUMT00000356412.1	C			38535082	1	no_errors	ENST00000422612	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38535082	C	G	38535082	3	3	168	1	0	0	0	0	1	0	0	0	16683	912	32	1	583	1	TSPAN7	23	38535082	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	10769859	38535082	116735478	430	32147										
KDM6A	7403	genome.wustl.edu	37	chrX	44949031	44949031	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gttcttggtggcccaatcttGaagatctttatgaagcaaat	9	7	3	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:44949031G>A	ENST00000377967.4	+	25	3633	c.3592G>A	c.(3592-3594)Gaa>Aaa	p.E1198K	KDM6A_ENST00000536777.1_Missense_Mutation_p.E1153K|KDM6A_ENST00000382899.4_Missense_Mutation_p.E1205K|KDM6A_ENST00000543216.1_Missense_Mutation_p.E1119K	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1198	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCCCAATCTTGAAGATCTTTA	0.363			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											129	109	116					X																	44949031		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3592G>A	X.37:g.44949031G>A	ENSP00000367203:p.Glu1198Lys		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1205K	ENST00000377967.4	37	c.3613	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128623	0.56721	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.16	4.29	0.51040	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.044640	0.85682	N	0.000000	T	0.79793	0.4507	M	0.64260	1.97	0.80722	D	1	B;P;P;B;P	0.49358	0.018;0.578;0.923;0.428;0.889	B;B;P;P;P	0.60949	0.032;0.204;0.856;0.456;0.881	T	0.81132	-0.1072	10	0.87932	D	0	-16.1739	13.1528	0.59498	0.0799:0.0:0.9201:0.0	.	837;1205;1153;1250;1198	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.;.;.;.;KDM6A_HUMAN	K	895;1198;1153;1205;1119	ENSP00000367203:E1198K;ENSP00000437405:E1153K;ENSP00000372355:E1205K;ENSP00000443078:E1119K	ENSP00000334340:E895K	E	+	1	0	KDM6A	44833975	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.358000	0.97109	0.968000	0.38212	0.468000	0.43344	GAA	KDM6A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.363	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	G	NM_021140		44949031	1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44949031	G	A	44949031	3	1	168	1	0	0	0	0	1	0	0	0	8157	1291	45	1	3690	1	KDM6A	23	44949031	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	6413949	44949031	110321529	431	32148										
USP11	8237	genome.wustl.edu	37	chrX	47098791	47098791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aggagggactggtggaaggcGaggattatgtgctgctccca	17	7	0	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:47098791G>A	ENST00000218348.3	+	3	457	c.457G>A	c.(457-459)Gag>Aag	p.E153K	USP11_ENST00000377107.2_Missense_Mutation_p.E110K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	153	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGTGGAAGGCGAGGATTATGT	0.542																																																	0													57	46	50					X																	47098791		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.457G>A	X.37:g.47098791G>A	ENSP00000218348:p.Glu153Lys		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.E153K	ENST00000218348.3	37	c.457	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	G	3.419	-0.118520	0.06838	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21543	2.01;2.0	5.85	-0.173	0.13322	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.511078	0.20602	N	0.089132	T	0.11623	0.0283	L	0.35644	1.08	0.19775	N	0.999957	B	0.20368	0.044	B	0.21151	0.033	T	0.41088	-0.9528	10	0.07325	T	0.83	-3.0347	6.3193	0.21208	0.4751:0.1232:0.4016:0.0	.	153	P51784	UBP11_HUMAN	K	110;153	ENSP00000366311:E110K;ENSP00000218348:E153K	ENSP00000218348:E153K	E	+	1	0	USP11	46983735	0.321000	0.24625	0.013000	0.15412	0.204000	0.24138	0.614000	0.24314	-0.549000	0.06191	-0.192000	0.12808	GAG	USP11	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47098791	1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	0.147	A	A	47098791	G	A	47098791	3	1	168	1	0	0	0	0	1	0	0	0	17073	1059	37	1	467	1	USP11	23	47098791	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	2149760	47098791	108171769	432	32149										
SSX5	6758	genome.wustl.edu	37	chrX	48047168	48047168	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atgtttcccccttttgggtcCtatgatggagaagagttgga	12	7	0	3			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:48047168C>A	ENST00000376923.1	-	6	466		c.e6-1		SSX5_ENST00000347757.1_Splice_Site|SSX5_ENST00000311798.1_Splice_Site			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTTTTGGGTCCTATGATGGAG	0.488																																																	0													195	181	186					X																	48047168		2203	4299	6502	SO:0001630	splice_region_variant	6758			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.467-1G>T	X.37:g.48047168C>A			Q5JQ59|Q5JQ60|Q96AW3	Splice_Site	SNP	-	e7-1	ENST00000376923.1	37	c.590-1	CCDS14289.1	X	.	.	.	.	.	.	.	.	.	.	c	6.308	0.424893	0.11987	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	.	.	.	1.67	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.25012	N	0.991398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2714	0.20956	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSX5	47932112	0.159000	0.22864	0.003000	0.11579	0.183000	0.23260	2.274000	0.43390	1.136000	0.42199	0.181000	0.17075	.	SSX5	-	-		0.488	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSX5	HGNC	protein_coding	OTTHUMT00000056466.1	C	NM_021015	Intron	48047168	-1	no_errors	ENST00000311798	ensembl	human	known	70_37	splice_site	SNP	0.003	A	A	48047168	C	A	48047168	5	1	168	1	0	0	0	0	0	0	1	0	15238	695	24	4	104	4	SSX5	23	48047168	Splice_Site	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	948377	48047168	107223392	433	32150										
HSD17B10	3028	genome.wustl.edu	37	chrX	53459255	53459255	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	cccttctttaagttgtacgtCttgctagccaccgcgatgcc	8	14	2	0			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:53459255C>A	ENST00000168216.6	-	3	324	c.297G>T	c.(295-297)aaG>aaT	p.K99N	HSD17B10_ENST00000375298.4_Missense_Mutation_p.K99N|HSD17B10_ENST00000375304.5_Missense_Mutation_p.K99N|HSD17B10_ENST00000495986.1_5'UTR|RP3-339A18.6_ENST00000418049.1_RNA	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	99					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						AGTTGTACGTCTTGCTAGCCA	0.502																																																	0													138	106	117					X																	53459255		2203	4300	6503	SO:0001583	missense	3028			U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	4800	protein-coding gene	gene with protein product	"type 10 17b-HSD", "type 10 17beta-hydroxysteroid dehydrogenase", "AB-binding alcohol dehydrogenase", "short chain dehydrogenase/reductase family 5C, member 1", "mitochondrial RNase P subunit 2"	300256	"hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II", "mental retardation, X-linked, syndromic 10"	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.297G>T	X.37:g.53459255C>A	ENSP00000168216:p.Lys99Asn		Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH	p.K99N	ENST00000168216.6	37	c.297	CCDS14354.1	X	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512483	0.64522	.	.	ENSG00000072506	ENST00000168216;ENST00000375304;ENST00000375298	D;D;D	0.87179	-2.22;-2.22;-2.22	5.81	4.96	0.65561	NAD(P)-binding domain (1);	0.081918	0.85682	D	0.000000	D	0.89054	0.6606	L	0.42245	1.32	0.80722	D	1	P;D	0.65815	0.679;0.995	B;D	0.64506	0.224;0.926	D	0.88979	0.3406	10	0.87932	D	0	.	9.2358	0.37466	0.0:0.8296:0.0:0.1703	.	99;99	Q99714-2;Q99714	.;HCD2_HUMAN	N	99	ENSP00000168216:K99N;ENSP00000364453:K99N;ENSP00000364447:K99N	ENSP00000168216:K99N	K	-	3	2	HSD17B10	53475980	1.000000	0.71417	0.971000	0.41717	0.800000	0.45204	1.315000	0.33608	1.222000	0.43521	0.600000	0.82982	AAG	HSD17B10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR		0.502	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B10	HGNC	protein_coding	OTTHUMT00000056750.1	C	NM_004493		53459255	-1	no_errors	ENST00000168216	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53459255	C	A	53459255	3	1	168	1	0	0	0	0	1	0	0	0	7399	912	32	3	504	3	HSD17B10	23	53459255	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	5412087	53459255	101811305	434	32151										
PHF8	23133	genome.wustl.edu	37	chrX	54048782	54048782	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtgtatcatgcccctttgaaGatccacggcgttttttcact	8	11	2	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:54048782G>A	ENST00000357988.5	-	4	669	c.311C>T	c.(310-312)tCt>tTt	p.S104F	PHF8_ENST00000338154.6_Missense_Mutation_p.S68F|PHF8_ENST00000338946.6_Missense_Mutation_p.S68F|PHF8_ENST00000322659.8_Missense_Mutation_p.S68F	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	104	Linker.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCCCTTTGAAGATCCACGGCG	0.493																																																	0													134	116	122					X																	54048782		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.311C>T	X.37:g.54048782G>A	ENSP00000350676:p.Ser104Phe		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.S104F	ENST00000357988.5	37	c.311	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	G	7.789	0.711138	0.15239	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	T;T;T;T;T;T;T;T;T;T	0.25085	2.42;2.16;2.17;1.82;2.19;2.19;2.21;2.16;2.21;2.21	5.51	5.51	0.81932	Zinc finger, FYVE/PHD-type (1);	1.122020	0.06478	N	0.732321	T	0.21801	0.0525	L	0.36672	1.1	0.33436	D	0.581728	P;B	0.37158	0.585;0.078	B;B	0.29942	0.109;0.013	T	0.14755	-1.0461	10	0.10111	T	0.7	-1.4699	15.8122	0.78573	0.0:0.0:1.0:0.0	.	68;104	B7Z911;Q9UPP1	.;PHF8_HUMAN	F	104;68;68;98;68;68;68;68;104;68;68	ENSP00000350676:S104F;ENSP00000338868:S68F;ENSP00000340051:S68F;ENSP00000319473:S68F;ENSP00000408113:S68F;ENSP00000398995:S68F;ENSP00000404117:S68F;ENSP00000405897:S104F;ENSP00000416546:S68F;ENSP00000410100:S68F	ENSP00000319473:S68F	S	-	2	0	PHF8	54065507	0.999000	0.42202	1.000000	0.80357	0.923000	0.55619	4.005000	0.57075	2.332000	0.79248	0.596000	0.82720	TCT	PHF8	-	superfamily_Znf_FYVE_PHD		0.493	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	G	NM_015107		54048782	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	0.989	A	A	54048782	G	A	54048782	3	1	168	1	0	0	0	0	1	0	0	0	11864	942	33	1	3117	1	PHF8	23	54048782	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	589527	54048782	101221778	435	32152										
WNK3	65267	genome.wustl.edu	37	chrX	54359713	54359714	+	In_Frame_Ins	INS	-	-	TTT													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acagccttcatttctgcttcINSttcttccatttccttttcat							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:54359713_54359714insTTT	ENST00000375159.2	-	1	392_393	c.393_394insAAA	c.(391-396)gaagaa>gaaAAAgaa	p.131_132EE>EKE	WNK3_ENST00000375169.3_In_Frame_Ins_p.131_132EE>EKE|WNK3_ENST00000354646.2_In_Frame_Ins_p.131_132EE>EKE			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	131					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATTTCTGCTTCTTCTTCCATTT	0.361																																																	0																																										SO:0001652	inframe_insertion	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.393_394insAAA	X.37:g.54359713_54359714insTTT	ENSP00000364301:p.Glu131_Glu132insLys		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	In_Frame_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.131in_frame_insK	ENST00000375159.2	37	c.394_393	CCDS14357.1	X																																																																																			WNK3	-	NULL		0.361	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	-	NM_020922		54359714	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	TTT	TTT	54359714	-	TTT	54359713	7	5	168	1	0	1	1	0	0	0	0	0	17410	922	32	0	5100	0	WNK3	23	54359713	In_Frame_Ins	INS	-	TCGA-LP-A4AV-01A-11D-A243-09	310931	54359713	100910847	436	32153	209	2								
WNK3	65267	genome.wustl.edu	37	chrX	54359716	54359717	+	In_Frame_Ins	INS	-	-	CAT													0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gccttcatttctgcttcttcINSttccatttccttttcatttt							TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:54359716_54359717insCAT	ENST00000375159.2	-	1	389_390	c.390_391insATG	c.(388-393)gaagaa>gaaATGgaa	p.130_131EE>EME	WNK3_ENST00000375169.3_In_Frame_Ins_p.130_131EE>EME|WNK3_ENST00000354646.2_In_Frame_Ins_p.130_131EE>EME			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	130					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTGCTTCTTCTTCCATTTCCT	0.361																																																	0																																										SO:0001652	inframe_insertion	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.390_391insATG	X.37:g.54359716_54359717insCAT	ENSP00000364301:p.Glu130_Glu131insMet		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	In_Frame_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.130in_frame_insM	ENST00000375159.2	37	c.391_390	CCDS14357.1	X																																																																																			WNK3	-	NULL		0.361	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	-	NM_020922		54359717	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	CAT	CAT	54359717	-	CAT	54359716	7	5	168	1	0	1	1	0	0	0	0	0	17410	922	32	0	5103	0	WNK3	23	54359716	In_Frame_Ins	INS	-	TCGA-LP-A4AV-01A-11D-A243-09	3	54359716	100910844	437	32154	209	2								
CXorf65	158830	genome.wustl.edu	37	chrX	70326271	70326271	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ggtattgaccagaaactgctGattatctgagaagagatagg	12	5	1	5			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:70326271G>A	ENST00000374251.5	-	2	79	c.31C>T	c.(31-33)Cag>Tag	p.Q11*		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	11										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						AGAAACTGCTGATTATCTGAG	0.493																																																	0													149	118	129					X																	70326271		2203	4300	6503	SO:0001587	stop_gained	158830			BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.31C>T	X.37:g.70326271G>A	ENSP00000363369:p.Gln11*			Nonsense_Mutation	SNP	NULL	p.Q11*	ENST00000374251.5	37	c.31	CCDS35324.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.029582	0.97216	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	.	.	.	4.93	4.93	0.64822	.	0.498482	0.19367	N	0.115983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.0017	0.64437	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000363369:Q11X	Q	-	1	0	CXorf65	70242996	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.141000	0.42168	2.274000	0.75844	0.600000	0.82982	CAG	CXorf65	-	NULL		0.493	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf65	HGNC	protein_coding	OTTHUMT00000057089.2	G	NM_001025265		70326271	-1	no_errors	ENST00000374251	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	70326271	G	A	70326271	4	1	168	1	0	0	0	0	0	1	0	0	4122	1299	45	1	540	1	CXorf65	23	70326271	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	15966555	70326271	84944289	438	32155										
NONO	4841	genome.wustl.edu	37	chrX	70516458	70516458	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	agcccatggaccagttagatGatgaagagggacttccagag	13	8	0	5			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:70516458G>C	ENST00000276079.8	+	6	899	c.694G>C	c.(694-696)Gat>Cat	p.D232H	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Missense_Mutation_p.D143H|NONO_ENST00000373856.3_Missense_Mutation_p.D232H|NONO_ENST00000373841.1_Missense_Mutation_p.D232H	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	232	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCAGTTAGATGATGAAGAGGG	0.413			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	0													84	60	68					X																	70516458		2203	4300	6503	SO:0001583	missense	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.694G>C	X.37:g.70516458G>C	ENSP00000276079:p.Asp232His		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.D232H	ENST00000276079.8	37	c.694	CCDS14410.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.1|24.1	4.494846|4.494846	0.85069|0.85069	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841|ENST00000418921	T;T;T;T|.	0.22945|.	1.94;1.93;1.93;1.93|.	4.57|4.57	4.57|4.57	0.56435|0.56435	NOPS (1);|.	0.100182|.	0.64402|.	D|.	0.000002|.	D|D	0.83372|0.83372	0.5240|0.5240	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.75020|.	0.985|.	D|D	0.86906|0.86906	0.2057|0.2057	10|5	0.87932|.	D|.	0|.	-12.7535|-12.7535	16.9552|16.9552	0.86257|0.86257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232|.	Q15233|.	NONO_HUMAN|.	H|I	143;232;232;232|93	ENSP00000441364:D143H;ENSP00000276079:D232H;ENSP00000362963:D232H;ENSP00000362947:D232H|.	ENSP00000276079:D232H|.	D|M	+|+	1|3	0|0	NONO|NONO	70433183|70433183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.612000|7.612000	0.82975|0.82975	2.269000|2.269000	0.75478|0.75478	0.529000|0.529000	0.55759|0.55759	GAT|ATG	NONO	-	pfam_NOPS		0.413	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1	G	NM_007363		70516458	1	no_errors	ENST00000276079	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70516458	G	C	70516458	3	2	168	1	0	0	0	0	1	0	0	0	10558	1290	45	1	708	1	NONO	23	70516458	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	190187	70516458	84754102	439	32156										
TAF1	6872	genome.wustl.edu	37	chrX	70618466	70618466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	acaacatcgggaagagatgcGaaaagaacggcggaggattc	14	7	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:70618466G>A	ENST00000373790.4	+	24	3713	c.3662G>A	c.(3661-3663)cGa>cAa	p.R1221Q	TAF1_ENST00000423759.1_Missense_Mutation_p.R1242Q|TAF1_ENST00000449580.1_Missense_Mutation_p.R1221Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R1242Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1221					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R1221Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAAGAGATGCGAAAAGAACGG	0.458																																																	1	Substitution - Missense(1)	large_intestine(1)											89	76	80					X																	70618466		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3662G>A	X.37:g.70618466G>A	ENSP00000362895:p.Arg1221Gln		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1221Q	ENST00000373790.4	37	c.3662	CCDS35325.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.2|24.2	4.499550|4.499550	0.85176|0.85176	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.|T;T;T;T	.|0.17528	.|2.27;2.27;2.27;2.27	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63046	.|0.992;0.977;0.982	.|P;P;P	.|0.56648	.|0.803;0.543;0.625	T|T	0.01432|0.01432	-1.1356|-1.1356	5|10	.|0.62326	.|D	.|0.03	.|.	18.5393|18.5393	0.91022|0.91022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1221;1221;1242	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	K|Q	132|1221;1221;1242;1242	.|ENSP00000362895:R1221Q;ENSP00000389000:R1221Q;ENSP00000406549:R1242Q;ENSP00000276072:R1242Q	.|ENSP00000276072:R1242Q	E|R	+|+	1|2	0|0	TAF1|TAF1	70535191|70535191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.473000|9.473000	0.97714|0.97714	2.321000|2.321000	0.78463|0.78463	0.468000|0.468000	0.43344|0.43344	GAA|CGA	TAF1	-	pirsf_TAF1_animal		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	G	NM_004606		70618466	1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70618466	G	A	70618466	3	1	168	1	0	0	0	0	1	0	0	0	15543	1058	37	1	3819	1	TAF1	23	70618466	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	102008	70618466	84652094	440	32157										
HTR2C	3358	genome.wustl.edu	37	chrX	113961366	113961366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atggtgaacctgaggaatgcGgtgcattcattcctgtaagg	13	7	1	2	rs202034357		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:113961366G>A	ENST00000276198.1	+	3	749	c.21G>A	c.(19-21)gcG>gcA	p.A7A	HTR2C_ENST00000371951.1_Silent_p.A7A|HTR2C_ENST00000371950.3_Silent_p.A7A	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	7					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAGGAATGCGGTGCATTCAT	0.348																																																	0								G		0,3834		0,0,1632,570	87	78	81		21	1.8	0.5	X		81	1,6727		0,1,2427,1872	no	coding-synonymous	HTR2C	NM_000868.2		0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095		7/459	113961366	1,10561	2202	4300	6502	SO:0001819	synonymous_variant	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.21G>A	X.37:g.113961366G>A			B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.A7	ENST00000276198.1	37	c.21	CCDS14564.1	X																																																																																			HTR2C	-	prints_5HT2C_rcpt		0.348	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	G	NM_000868		113961366	1	no_errors	ENST00000276198	ensembl	human	known	70_37	silent	SNP	0.569	A	A	113961366	G	A	113961366	2	1	168	1	0	0	0	0	0	0	0	1	7463	1103	39	2		2	HTR2C	23	113961366	Silent	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	43342900	113961366	41309194	441	32158										
HTR2C	3358	genome.wustl.edu	37	chrX	114141909	114141909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aatgagcccggtatagagatGcaagttgagaatttagagtt	12	4	0	4			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:114141909G>A	ENST00000276198.1	+	6	2036	c.1308G>A	c.(1306-1308)atG>atA	p.M436I	HTR2C_ENST00000371951.1_Missense_Mutation_p.M436I|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	436					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTATAGAGATGCAAGTTGAGA	0.453																																																	0													146	140	142					X																	114141909		2203	4300	6503	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1308G>A	X.37:g.114141909G>A	ENSP00000276198:p.Met436Ile		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.M436I	ENST00000276198.1	37	c.1308	CCDS14564.1	X	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419580	0.25552	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.56275	0.47;0.47	5.05	4.17	0.49024	.	0.210877	0.42821	D	0.000657	T	0.42471	0.1204	L	0.54323	1.7	0.80722	D	1	P	0.36577	0.558	B	0.32805	0.153	T	0.28933	-1.0028	10	0.22109	T	0.4	.	10.5675	0.45181	0.0994:0.0:0.9006:0.0	.	436	P28335	5HT2C_HUMAN	I	436	ENSP00000276198:M436I;ENSP00000361019:M436I	ENSP00000276198:M436I	M	+	3	0	HTR2C	114048165	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	5.564000	0.67359	2.338000	0.79540	0.544000	0.68410	ATG	HTR2C	-	prints_5HT2C_rcpt		0.453	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	G	NM_000868		114141909	1	no_errors	ENST00000276198	ensembl	human	known	70_37	missense	SNP	0.991	A	A	114141909	G	A	114141909	3	1	168	1	0	0	0	0	1	0	0	0	7463	1319	46	4	1322	4	HTR2C	23	114141909	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	180543	114141909	41128651	442	32159										
LRCH2	57631	genome.wustl.edu	37	chrX	114347796	114347796	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atattaagccacagaaagctGagatgccttggttgttggta	11	6	0	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:114347796G>A	ENST00000317135.8	-	21	2311	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	LRCH2_ENST00000538422.1_Nonsense_Mutation_p.Q744*	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	761										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ACAGAAAGCTGAGATGCCTTG	0.328																																																	0													60	52	55					X																	114347796		1829	4075	5904	SO:0001587	stop_gained	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2281C>T	X.37:g.114347796G>A	ENSP00000325091:p.Gln761*		F5H2T1|Q08AD5|Q9HA88|Q9P233	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.Q761*	ENST00000317135.8	37	c.2281	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.062050	0.97246	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.49798	D	0.999821	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-4.4032	16.1874	0.81962	0.0:0.0:1.0:0.0	.	.	.	.	X	761;240;744	.	ENSP00000325091:Q761X	Q	-	1	0	LRCH2	114254052	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.001000	0.93568	2.124000	0.65301	0.529000	0.55759	CAG	LRCH2	-	superfamily_CH-domain		0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	G	NM_020871		114347796	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	114347796	G	A	114347796	4	1	168	1	0	0	0	0	0	1	0	0	8956	1299	45	1	20	1	LRCH2	23	114347796	Nonsense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	205887	114347796	40922764	443	32160										
UPF3B	65109	genome.wustl.edu	37	chrX	118985826	118985826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	tcaaagtgggaggtaatcttCgaattaccaccttaagaaat	8	7	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:118985826C>T	ENST00000276201.2	-	2	236	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	UPF3B_ENST00000345865.2_Missense_Mutation_p.R56Q	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	56	Binds to UPF2.|Necessary for interaction with UPF2.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						AGGTAATCTTCGAATTACCAC	0.373																																																	0													49	48	48					X																	118985826		2203	4300	6503	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.167G>A	X.37:g.118985826C>T	ENSP00000276201:p.Arg56Gln		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.R56Q	ENST00000276201.2	37	c.167	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482120	0.84747	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.72051	-0.62;-0.62	4.85	4.85	0.62838	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	M	0.89287	3.02	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.80764	0.905;0.994	D	0.88843	0.3314	10	0.87932	D	0	.	14.48	0.67576	0.0:1.0:0.0:0.0	.	56;56	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	Q	56	ENSP00000276201:R56Q;ENSP00000245418:R56Q	ENSP00000276201:R56Q	R	-	2	0	UPF3B	118869854	1.000000	0.71417	0.943000	0.38184	0.997000	0.91878	7.198000	0.77823	1.995000	0.58328	0.600000	0.82982	CGA	UPF3B	-	pfam_Nonsense_mediated_decay_UPF3		0.373	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	C			118985826	-1	no_errors	ENST00000276201	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118985826	C	T	118985826	3	4	168	1	0	0	0	0	1	0	0	0	17037	884	31	1	1324	1	UPF3B	23	118985826	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	4638030	118985826	36284734	444	32161										
BCORL1	63035	genome.wustl.edu	37	chrX	129159284	129159284	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	aagaaacgaagacggcagaaGagccgaaaatatcagactgg	12	7	1	5			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:129159284G>C	ENST00000218147.7	+	7	4205	c.4008G>C	c.(4006-4008)aaG>aaC	p.K1336N	BCORL1_ENST00000303743.5_Missense_Mutation_p.K1336N|BCORL1_ENST00000540052.1_Missense_Mutation_p.K1336N|BCORL1_ENST00000359304.2_Intron			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1336					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACGGCAGAAGAGCCGAAAAT	0.592																																																	0													75	67	70					X																	129159284		2203	4299	6502	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4008G>C	X.37:g.129159284G>C	ENSP00000218147:p.Lys1336Asn		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K1336N	ENST00000218147.7	37	c.4008	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588808	0.66105	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.54071	0.59;0.94;0.59;1.01	5.61	3.59	0.41128	.	0.000000	0.38492	N	0.001662	T	0.53498	0.1800	L	0.27053	0.805	0.43321	D	0.995344	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.56263	-0.8008	10	0.87932	D	0	-17.6118	4.2493	0.10686	0.556:0.0:0.444:0.0	.	1336;1336	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	N	1336;1336;1336;936	ENSP00000218147:K1336N;ENSP00000307541:K1336N;ENSP00000437775:K1336N;ENSP00000399483:K936N	ENSP00000218147:K1336N	K	+	3	2	BCORL1	128986965	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.232000	0.43018	1.114000	0.41781	0.513000	0.50165	AAG	BCORL1	-	NULL		0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	G	NM_021946		129159284	1	no_errors	ENST00000303743	ensembl	human	known	70_37	missense	SNP	1.000	C	C	129159284	G	C	129159284	3	2	168	1	0	0	0	0	1	0	0	0	1388	933	33	1	4030	1	BCORL1	23	129159284	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	10173458	129159284	26111276	445	32162										
MAP7D3	79649	genome.wustl.edu	37	chrX	135323400	135323400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	atcatcagcaagtctcctccGttccaaagtacgataaagaa	6	11	3	1	rs201460312		TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:135323400G>A	ENST00000316077.9	-	5	674	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	MAP7D3_ENST00000370661.1_Missense_Mutation_p.R152W|MAP7D3_ENST00000370663.5_Missense_Mutation_p.R134W	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	152					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					AGTCTCCTCCGTTCCAAAGTA	0.338																																																	0													55	49	51					X																	135323400		1829	4093	5922	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.454C>T	X.37:g.135323400G>A	ENSP00000318086:p.Arg152Trp		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	pfam_E-MAP-115	p.R134W	ENST00000316077.9	37	c.400	CCDS44004.1	X	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570454	0.45798	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.15	-0.0518	0.13825	.	.	.	.	.	T	0.31979	0.0814	M	0.68952	2.095	0.09310	N	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.12811	-1.0533	9	0.87932	D	0	-14.3918	10.2923	0.43603	0.0:0.1183:0.3927:0.4889	.	134;152;152;152	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	W	152;152;134;152	ENSP00000359695:R152W;ENSP00000318086:R152W;ENSP00000359697:R134W;ENSP00000359694:R152W	ENSP00000318086:R152W	R	-	1	2	MAP7D3	135151066	0.300000	0.24435	0.000000	0.03702	0.009000	0.06853	1.998000	0.40796	-0.531000	0.06340	-1.517000	0.00937	CGG	MAP7D3	-	NULL		0.338	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	G			135323400	-1	no_errors	ENST00000370663	ensembl	human	known	70_37	missense	SNP	0.157	A	A	135323400	G	A	135323400	3	1	168	1	0	0	0	0	1	0	0	0	9292	1144	40	2	2232	2	MAP7D3	23	135323400	Missense_Mutation	SNP	G	TCGA-LP-A4AV-01A-11D-A243-09	6164116	135323400	19947160	446	32163										
FMR1	2332	genome.wustl.edu	37	chrX	147027065	147027065	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	ttctcataggaaacgacgatCactcccgaacagataatcgt	7	11	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:147027065C>T	ENST00000370475.4	+	16	1794	c.1666C>T	c.(1666-1668)Cac>Tac	p.H556Y	FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370470.1_Missense_Mutation_p.H531Y|FMR1_ENST00000440235.2_Missense_Mutation_p.H203Y|FMR1_ENST00000439526.2_Missense_Mutation_p.H533Y|FMR1_ENST00000370471.3_Silent_p.I465I|FMR1_ENST00000370477.1_Missense_Mutation_p.H523Y|FMR1_ENST00000218200.8_Missense_Mutation_p.H535Y	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	556	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAACGACGATCACTCCCGAAC	0.398									Fragile X syndrome																																								0													114	97	103					X																	147027065		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1666C>T	X.37:g.147027065C>T	ENSP00000359506:p.His556Tyr		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.H556Y	ENST00000370475.4	37	c.1666	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328758	0.60743	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.27	5.27	0.74061	.	0.323364	0.38663	N	0.001617	T	0.31295	0.0792	.	.	.	0.48762	D	0.999708	P;B;B;B;B	0.34757	0.467;0.403;0.403;0.305;0.077	B;B;B;B;B	0.41646	0.187;0.26;0.362;0.122;0.058	T	0.04440	-1.0951	9	0.18710	T	0.47	-34.0151	16.9306	0.86189	0.0:1.0:0.0:0.0	.	203;556;451;510;533	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	Y	535;523;556;533;531;203	ENSP00000218200:H535Y;ENSP00000359508:H523Y;ENSP00000359506:H556Y;ENSP00000395923:H533Y;ENSP00000359501:H531Y;ENSP00000413764:H203Y	ENSP00000218200:H535Y	H	+	1	0	FMR1	146834757	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.034000	0.64152	2.205000	0.71048	0.429000	0.28392	CAC	FMR1	-	pfam_Frag_X_MRP_fam		0.398	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	C	NM_002024		147027065	1	no_errors	ENST00000370475	ensembl	human	known	70_37	missense	SNP	1.000	T	T	147027065	C	T	147027065	3	4	168	1	0	0	0	0	1	0	0	0	5978	826	29	1	1728	1	FMR1	23	147027065	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	11703665	147027065	8243495	447	32164										
PLXNB3	5365	genome.wustl.edu	37	chrX	153032607	153032607	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gtgacccagccgagtgcccaCaggcccagctcactgacaat	10	16	1	2			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:153032607C>T	ENST00000361971.5	+	3	439	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Nonsense_Mutation_p.Q132*|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538776.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	109	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGTGCCCACAGGCCCAGCT	0.687																																																	0													21	18	19					X																	153032607		2199	4294	6493	SO:0001587	stop_gained	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.325C>T	X.37:g.153032607C>T	ENSP00000355378:p.Gln109*		B7Z3E6|F5H773|Q9HDA4	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.Q132*	ENST00000361971.5	37	c.394	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008690	0.93346	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	.	.	.	4.79	4.79	0.61399	.	0.156649	0.42053	D	0.000767	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	15.7471	0.77955	0.0:1.0:0.0:0.0	.	.	.	.	X	132;109	.	ENSP00000355378:Q109X	Q	+	1	0	PLXNB3	152685801	0.991000	0.36638	0.962000	0.40283	0.021000	0.10359	2.921000	0.48852	1.961000	0.56991	0.468000	0.43344	CAG	PLXNB3	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	C			153032607	1	no_errors	ENST00000538966	ensembl	human	known	70_37	nonsense	SNP	0.903	T	T	153032607	C	T	153032607	4	4	168	1	0	0	0	0	0	1	0	0	12149	479	17	4	449	4	PLXNB3	23	153032607	Nonsense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	6005542	153032607	2237953	448	32165										
ARHGAP4	393	genome.wustl.edu	37	chrX	153178166	153178166	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566292134831461	252	8.24488946861891e-97	4.12242650797603	5.81130726153882	3.38468437374824	0.00238200238514627	0.0132030989348108	191	gctagtacctggataaacttCtccatgtctcccccaaagag	7	13	2	1			TCGA-LP-A4AV-01A-11D-A243-09	TCGA-LP-A4AV-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4de35b22-a7e2-46e2-a2e3-f28e55834986	3019b763-0f7e-4424-bd69-80f6c130246c	g.chrX:153178166C>G	ENST00000350060.5	-	12	1571	c.1530G>C	c.(1528-1530)gaG>gaC	p.E510D	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E489D|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.E550D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E332D|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E487D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	510	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGATAAACTTCTCCATGTCTC	0.557																																																	0													114	112	112					X																	153178166		2203	4300	6503	SO:0001583	missense	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1530G>C	X.37:g.153178166C>G	ENSP00000203786:p.Glu510Asp		Q14144|Q86UY3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E510D	ENST00000350060.5	37	c.1530	CCDS14736.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.53|15.53	2.861621|2.861621	0.51482|0.51482	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000442172	T;T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5;0.5|.	5.46|5.46	3.68|3.68	0.42216|0.42216	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);|.	0.149237|.	0.31381|.	N|.	0.007742|.	T|T	0.44582|0.44582	0.1300|0.1300	L|L	0.39633|0.39633	1.23|1.23	0.31447|0.31447	N|N	0.671286|0.671286	P;B|.	0.36683|.	0.565;0.052|.	B;B|.	0.30646|.	0.118;0.014|.	T|T	0.49643|0.49643	-0.8918|-0.8918	10|5	0.27785|.	T|.	0.31|.	.|.	10.6377|10.6377	0.45575|0.45575	0.0:0.8331:0.0:0.1669|0.0:0.8331:0.0:0.1669	.|.	550;510|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	D|T	332;550;510;489;487|25	ENSP00000377322:E332D;ENSP00000359045:E550D;ENSP00000203786:E510D;ENSP00000359033:E489D;ENSP00000444169:E487D|.	ENSP00000203786:E510D|.	E|R	-|-	3|2	2|0	ARHGAP4|ARHGAP4	152831360|152831360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.166000|2.166000	0.42406|0.42406	1.095000|1.095000	0.41419|0.41419	0.525000|0.525000	0.51046|0.51046	GAG|AGA	ARHGAP4	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.557	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666		153178166	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	missense	SNP	0.997	G	G	153178166	C	G	153178166	3	3	168	1	0	0	0	0	1	0	0	0	885	912	32	1	1354	1	ARHGAP4	23	153178166	Missense_Mutation	SNP	C	TCGA-LP-A4AV-01A-11D-A243-09	145559	153178166	2092394	449	32166										
NHLH2	4808	genome.wustl.edu	37	chr1	116380753	116380753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gcgctcgcgggtggcgtgggCcgagcggtacttggccgtgg	21	11	0	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr1:116380753C>T	ENST00000369506.1	-	1	5785	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	NHLH2_ENST00000320238.3_Missense_Mutation_p.A81T			Q02577	HEN2_HUMAN	nescient helix loop helix 2	81	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTGGCGTGGGCCGAGCGGTAC	0.726																																																	0													14	16	15					1																	116380753		2195	4290	6485	SO:0001583	missense	4808				CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"Basic helix-loop-helix proteins"	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.241G>A	1.37:g.116380753C>T	ENSP00000358519:p.Ala81Thr		Q5T1P6	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.A81T	ENST00000369506.1	37	c.241	CCDS885.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879369	0.91740	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D;D	0.98044	-4.68;-4.68;-4.68	4.49	4.49	0.54785	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000001	D	0.96996	0.9019	L	0.39566	1.225	0.80722	D	1	D	0.61697	0.99	P	0.61722	0.893	D	0.96809	0.9595	10	0.41790	T	0.15	-12.9783	16.8027	0.85618	0.0:1.0:0.0:0.0	.	81	Q02577	HEN2_HUMAN	T	81	ENSP00000322087:A81T;ENSP00000358519:A81T;ENSP00000405062:A81T	ENSP00000322087:A81T	A	-	1	0	NHLH2	116182276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.721000	0.61951	2.053000	0.61076	0.561000	0.74099	GCC	NHLH2	-	pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom		0.726	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NHLH2	HGNC	protein_coding	OTTHUMT00000033090.1	C	NM_005599		116380753	-1	no_errors	ENST00000320238	ensembl	human	known	70_37	missense	SNP	1.000	T	T	116380753	C	T	116380753	3	4	169	1	0	0	0	0	1	0	0	0	10428	739	26	4	170	4	NHLH2	1	116380753	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		116380753	132869868	1	32167										
SPAG17	200162	genome.wustl.edu	37	chr1	118512716	118512716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tcactttcagtcctgtgctgGgtgggggctgctttacttta	12	9	2	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr1:118512716G>A	ENST00000336338.5	-	46	6415	c.6350C>T	c.(6349-6351)cCc>cTc	p.P2117L	SPAG17_ENST00000492438.1_5'Flank	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2117						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCTGTGCTGGGTGGGGGCTG	0.393																																																	0													143	142	142					1																	118512716		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6350C>T	1.37:g.118512716G>A	ENSP00000337804:p.Pro2117Leu		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.P2117L	ENST00000336338.5	37	c.6350	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189997	0.78789	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.20200	2.09	5.3	5.3	0.74995	.	0.296744	0.32935	N	0.005468	T	0.37571	0.1008	M	0.78801	2.425	0.39480	D	0.967865	D	0.57257	0.979	P	0.61658	0.892	T	0.20571	-1.0271	10	0.87932	D	0	.	15.9899	0.80197	0.0:0.0:1.0:0.0	.	2117	Q6Q759	SPG17_HUMAN	L	2117;597	ENSP00000337804:P2117L	ENSP00000337804:P2117L	P	-	2	0	SPAG17	118314239	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.168000	0.50801	2.775000	0.95449	0.650000	0.86243	CCC	SPAG17	-	NULL		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	G	NM_206996		118512716	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118512716	G	A	118512716	3	1	169	1	0	0	0	0	1	0	0	0	15009	1232	43	4	333	4	SPAG17	1	118512716	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	2131963	118512716	130737905	2	32168										
RFX5	5993	genome.wustl.edu	37	chr1	151316236	151316236	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tgctgtagcaggaagcgggcGacctcaacgatggaactgaa	14	9	1	1	rs559709373		TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr1:151316236G>A	ENST00000290524.4	-	9	856	c.678C>T	c.(676-678)gtC>gtT	p.V226V	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000368870.2_Silent_p.V226V|RFX5_ENST00000452671.2_Silent_p.V226V|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Silent_p.V186V	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	226					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAGCGGGCGACCTCAACGA	0.592																																																	0													106	94	98					1																	151316236		2203	4300	6503	SO:0001819	synonymous_variant	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.678C>T	1.37:g.151316236G>A			B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	pfam_DNA-bd_RFX	p.V226	ENST00000290524.4	37	c.678	CCDS994.1	1																																																																																			RFX5	-	NULL		0.592	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	G	NM_000449		151316236	-1	no_errors	ENST00000290524	ensembl	human	known	70_37	silent	SNP	0.255	A	A	151316236	G	A	151316236	2	1	169	1	0	0	0	0	0	0	0	1	13296	1045	37	1		1	RFX5	1	151316236	Silent	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	32803520	151316236	97934385	3	32169										
FLG	2312	genome.wustl.edu	37	chr1	152287917	152287917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	aattatggcaaagatgttttCcaggagagtagacatctttt	9	5	1	3			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr1:152287917C>T	ENST00000368799.1	-	2	51	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	6	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			AAGATGTTTTCCAGGAGAGTA	0.284									Ichthyosis																																								0													75	74	74					1																	152287917		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.16G>A	1.37:g.152287917C>T	ENSP00000357789:p.Glu6Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E6K	ENST00000368799.1	37	c.16	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268278	0.40095	.	.	ENSG00000143631	ENST00000368799	T	0.07567	3.18	5.2	2.17	0.27698	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.03739	0.0106	N	0.17723	0.515	0.21416	N	0.999694	P	0.52316	0.952	P	0.60286	0.872	T	0.34054	-0.9844	9	0.31617	T	0.26	-24.8286	3.3011	0.06983	0.1694:0.5504:0.1855:0.0947	.	6	P20930	FILA_HUMAN	K	6	ENSP00000357789:E6K	ENSP00000357789:E6K	E	-	1	0	FLG	150554541	0.751000	0.28327	0.953000	0.39169	0.002000	0.02628	0.374000	0.20501	0.767000	0.33267	-0.259000	0.10710	GAA	FLG	-	pfam_S100_Ca-bd_sub		0.284	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152287917	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.881	T	T	152287917	C	T	152287917	3	4	169	1	0	0	0	0	1	0	0	0	5940	864	30	1	12177	1	FLG	1	152287917	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	971681	152287917	96962704	4	32170										
FCRL5	83416	genome.wustl.edu	37	chr1	157514053	157514053	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	aggttccaccaacacttactCtgcacctgtatccaggatct	6	14	2	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr1:157514053C>G	ENST00000361835.3	-	5	1000	c.843G>C	c.(841-843)caG>caC	p.Q281H	FCRL5_ENST00000356953.4_Splice_Site_p.Q281H|FCRL5_ENST00000368189.3_Splice_Site_p.Q281H|FCRL5_ENST00000368191.3_Splice_Site_p.Q196H|FCRL5_ENST00000368190.3_Splice_Site_p.Q281H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	281					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AACACTTACTCTGCACCTGTA	0.502																																																	0													127	124	125					1																	157514053		2203	4300	6503	SO:0001630	splice_region_variant	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.844+1G>C	1.37:g.157514053C>G			A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q281H	ENST00000361835.3	37	c.843	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190842	0.38707	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.49720	0.77;0.79;0.77;1.05;1.09	4.06	-8.12	0.01078	.	.	.	.	.	T	0.31575	0.0801	M	0.69358	2.11	0.09310	N	1	P;P;P;P;P;D	0.61080	0.907;0.88;0.88;0.788;0.858;0.989	B;P;P;B;P;D	0.65140	0.396;0.66;0.71;0.286;0.465;0.932	T	0.43702	-0.9375	9	0.08179	T	0.78	.	8.09	0.30795	0.0:0.242:0.1329:0.6251	.	312;196;281;281;281;281	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	H	281;281;281;196;281	ENSP00000354691:Q281H;ENSP00000349434:Q281H;ENSP00000357173:Q281H;ENSP00000357174:Q196H;ENSP00000357172:Q281H	ENSP00000349434:Q281H	Q	-	3	2	FCRL5	155780677	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.491000	0.02302	-1.944000	0.01038	-0.253000	0.11424	CAG	FCRL5	-	smart_Ig_sub		0.502	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	C	NM_031281	Missense_Mutation	157514053	-1	no_errors	ENST00000356953	ensembl	human	known	70_37	missense	SNP	0.000	G	G	157514053	C	G	157514053	5	3	169	1	0	0	0	0	0	0	1	0	5816	927	32	1	2142	1	FCRL5	1	157514053	Splice_Site	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	5226136	157514053	91736568	5	32171										
POTEF	728378	genome.wustl.edu	37	chr2	130877734	130877734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gtcatcgtagtctccccaagCgcccaccttgctcttgctgc	8	17	3	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr2:130877734C>T	ENST00000409914.2	-	3	754	c.355G>A	c.(355-357)Gct>Act	p.A119T	POTEF_ENST00000360967.5_Missense_Mutation_p.A119T|POTEF_ENST00000361163.4_Missense_Mutation_p.A119T|POTEF_ENST00000357462.5_Missense_Mutation_p.A119T	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	119					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A119T(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTCCCCAAGCGCCCACCTTG	0.587																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											62	82	75					2																	130877734		2202	4298	6500	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.355G>A	2.37:g.130877734C>T	ENSP00000386786:p.Ala119Thr		A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.A119T	ENST00000409914.2	37	c.355	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	0.437	-0.900707	0.02472	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76839	-1.05;-1.05;1.78;1.71	0.409	-0.818	0.10833	.	.	.	.	.	T	0.48484	0.1502	N	0.13235	0.315	0.09310	N	1	P	0.52463	0.953	B	0.32149	0.141	T	0.47114	-0.9142	8	0.30078	T	0.28	.	.	.	.	.	119	A5A3E0	POTEF_HUMAN	T	119	ENSP00000350052:A119T;ENSP00000386786:A119T;ENSP00000354232:A119T;ENSP00000355012:A119T	ENSP00000350052:A119T	A	-	1	0	POTEF	130594204	0.012000	0.17670	0.001000	0.08648	0.002000	0.02628	-0.054000	0.11826	-0.572000	0.06006	-1.279000	0.01387	GCT	POTEF	-	NULL		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	C	NM_001099771		130877734	-1	no_errors	ENST00000357462	ensembl	human	known	70_37	missense	SNP	0.001	T	T	130877734	C	T	130877734	3	4	169	1	0	0	0	0	1	0	0	0	12289	768	27	2	2932	2	POTEF	2	130877734	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		130877734	112321639	6	32172										
NEB	4703	genome.wustl.edu	37	chr2	152394431	152394431	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cggtggtggaaatgctctggAcgatcaggaatggacctcca	14	9	2	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr2:152394431A>G	ENST00000172853.10	-	112	16101	c.15954T>C	c.(15952-15954)cgT>cgC	p.R5318R	NEB_ENST00000409198.1_Silent_p.R5318R|NEB_ENST00000397345.3_Silent_p.R7019R|NEB_ENST00000603639.1_Silent_p.R7019R|NEB_ENST00000427231.2_Silent_p.R7019R|NEB_ENST00000604864.1_Silent_p.R7019R			P20929	NEBU_HUMAN	nebulin	5318					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGCTCTGGACGATCAGGAA	0.403																																																	0													92	95	94					2																	152394431		1867	4111	5978	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15954T>C	2.37:g.152394431A>G			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R7019	ENST00000172853.10	37	c.21057		2																																																																																			NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.403	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		A	NM_004543		152394431	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	silent	SNP	0.984	G	G	152394431	A	G	152394431	2	3	169	1	0	0	0	0	0	0	0	1	10326	262	10	5		5	NEB	2	152394431	Silent	SNP	A	TCGA-LP-A4AW-01A-11D-A243-09	21516697	152394431	90804942	7	32173										
SCN3A	6328	genome.wustl.edu	37	chr2	165946749	165946749	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cttgtctggttttgttacacTatcataggaaggaggagagg	13	5	2	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr2:165946749T>A	ENST00000360093.3	-	28	6405	c.5914A>T	c.(5914-5916)Agt>Tgt	p.S1972C	SCN3A_ENST00000409101.3_Missense_Mutation_p.S1923C|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1972C|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Missense_Mutation_p.S455C|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1972					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTGTTACACTATCATAGGAA	0.358																																																	0													94	90	91					2																	165946749		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5914A>T	2.37:g.165946749T>A	ENSP00000353206:p.Ser1972Cys		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.S1972C	ENST00000360093.3	37	c.5914		2	.	.	.	.	.	.	.	.	.	.	T	18.15	3.561014	0.65538	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.97598	-4.21;-4.2;-4.15;-4.45	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	D	0.96981	0.9014	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.987	D	0.98461	1.0596	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1923;1923;1972	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	C	1972;1972;1923;455	ENSP00000353206:S1972C;ENSP00000283254:S1972C;ENSP00000386726:S1923C;ENSP00000439920:S455C	ENSP00000283254:S1972C	S	-	1	0	SCN3A	165654995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.285000	0.72658	2.308000	0.77769	0.533000	0.62120	AGT	SCN3A	-	NULL		0.358	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		T	NM_006922		165946749	-1	no_errors	ENST00000283254	ensembl	human	known	70_37	missense	SNP	1.000	A	A	165946749	T	A	165946749	3	1	169	1	0	0	0	0	1	0	0	0	13948	1522	53	5	92	5	SCN3A	2	165946749	Missense_Mutation	SNP	T	TCGA-LP-A4AW-01A-11D-A243-09	13552318	165946749	77252624	8	32174										
FRZB	2487	genome.wustl.edu	37	chr2	183702723	183702723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ccacttctcagctatagagcCttccaccaagagtaatctgt	6	13	2	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr2:183702723C>A	ENST00000295113.4	-	5	1423	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	272	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GCTATAGAGCCTTCCACCAAG	0.323																																																	0													77	73	74					2																	183702723		2203	4300	6503	SO:0001583	missense	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.814G>T	2.37:g.183702723C>A	ENSP00000295113:p.Gly272Cys		O00181|Q99686	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.G272C	ENST00000295113.4	37	c.814	CCDS2286.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030824	0.75504	.	.	ENSG00000162998	ENST00000295113	T	0.31769	1.48	5.81	5.81	0.92471	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.100472	0.64402	D	0.000002	T	0.50257	0.1605	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.46091	-0.9216	10	0.72032	D	0.01	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	272	Q92765	SFRP3_HUMAN	C	272	ENSP00000295113:G272C	ENSP00000295113:G272C	G	-	1	0	FRZB	183410968	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.327000	0.52045	2.736000	0.93811	0.655000	0.94253	GGC	FRZB	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.323	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	HGNC	protein_coding	OTTHUMT00000255808.1	C	NM_001463		183702723	-1	no_errors	ENST00000295113	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183702723	C	A	183702723	3	1	169	1	0	0	0	0	1	0	0	0	6083	681	24	4	171	4	FRZB	2	183702723	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	17755974	183702723	59496650	9	32175										
ALS2	57679	genome.wustl.edu	37	chr2	202625678	202625678	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tgacagtttccgtaggtattCattgactgcttgggtgtcag	12	7	2	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr2:202625678C>T	ENST00000264276.6	-	4	1411	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	ALS2_ENST00000467448.1_Missense_Mutation_p.E347K|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	347					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CGTAGGTATTCATTGACTGCT	0.428																																																	0													157	147	150					2																	202625678		2018	4179	6197	SO:0001583	missense	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1039G>A	2.37:g.202625678C>T	ENSP00000264276:p.Glu347Lys		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.E347K	ENST00000264276.6	37	c.1039	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294902	0.60086	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.58210	0.46;0.35	6.06	6.06	0.98353	.	0.380726	0.29715	N	0.011397	T	0.47002	0.1422	L	0.50333	1.59	0.80722	D	1	P;B;B;B	0.42296	0.775;0.167;0.025;0.025	B;B;B;B	0.38428	0.273;0.124;0.024;0.015	T	0.36065	-0.9763	10	0.24483	T	0.36	.	15.1762	0.72913	0.0:0.8599:0.1401:0.0	.	347;347;347;347	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	K	347	ENSP00000264276:E347K;ENSP00000429223:E347K	ENSP00000264276:E347K	E	-	1	0	ALS2	202333923	1.000000	0.71417	0.091000	0.20842	0.122000	0.20287	4.524000	0.60552	2.876000	0.98609	0.655000	0.94253	GAA	ALS2	-	NULL		0.428	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	C	NM_020919		202625678	-1	no_errors	ENST00000264276	ensembl	human	known	70_37	missense	SNP	0.788	T	T	202625678	C	T	202625678	3	4	169	1	0	0	0	0	1	0	0	0	550	835	29	1	4136	1	ALS2	2	202625678	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	18922955	202625678	40573695	10	32176										
NOP58	51602	genome.wustl.edu	37	chr2	203155898	203155898	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tttctgagttgctgccagaaGaagttgaagcagaagtgaaa	12	5	1	6			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr2:203155898G>T	ENST00000264279.5	+	8	911	c.685G>T	c.(685-687)Gaa>Taa	p.E229*	SNORD11B_ENST00000607707.1_RNA|SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	229					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GCTGCCAGAAGAAGTTGAAGC	0.423																																																	0													102	104	104					2																	203155898		2203	4300	6503	SO:0001587	stop_gained	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.685G>T	2.37:g.203155898G>T	ENSP00000264279:p.Glu229*		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Nonsense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.E229*	ENST00000264279.5	37	c.685	CCDS2353.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320815	0.81469	.	.	ENSG00000055044	ENST00000264279	.	.	.	5.78	5.78	0.91487	.	0.044264	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.9828	20.3754	0.98918	0.0:0.0:1.0:0.0	.	.	.	.	X	229	.	ENSP00000264279:E229X	E	+	1	0	NOP58	202864143	1.000000	0.71417	0.944000	0.38274	0.688000	0.40055	9.694000	0.98686	2.894000	0.99253	0.591000	0.81541	GAA	NOP58	-	NULL		0.423	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	G	NM_015934		203155898	1	no_errors	ENST00000264279	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	203155898	G	T	203155898	4	4	169	1	0	0	0	0	0	1	0	0	10564	943	33	3	715	3	NOP58	2	203155898	Nonsense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	530220	203155898	40043475	11	32177										
CREB1	1385	genome.wustl.edu	37	chr2	208434952	208434952	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	caccaggagtgccaaggattGaagaagagaagtctgaagag	14	6	1	5			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr2:208434952G>C	ENST00000432329.2	+	6	705	c.454G>C	c.(454-456)Gaa>Caa	p.E152Q	CREB1_ENST00000353267.3_Missense_Mutation_p.E138Q|CREB1_ENST00000539789.1_Missense_Mutation_p.E112Q|CREB1_ENST00000536726.1_Missense_Mutation_p.E138Q|CREB1_ENST00000374397.4_Missense_Mutation_p.E152Q|CREB1_ENST00000430624.1_Missense_Mutation_p.E138Q	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	152	KID. {ECO:0000255|PROSITE- ProRule:PRU00312}.				activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	GCCAAGGATTGAAGAAGAGAA	0.378			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"																																			Dom	yes		2	2q34	1385	cAMP responsive element binding protein 1		M	0													102	103	102					2																	208434952		2203	4300	6503	SO:0001583	missense	1385			M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"basic leucine zipper proteins"	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.454G>C	2.37:g.208434952G>C	ENSP00000387699:p.Glu152Gln		P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.E152Q	ENST00000432329.2	37	c.454	CCDS2375.1	2	.	.	.	.	.	.	.	.	.	.	G	30	5.052125	0.93793	.	.	ENSG00000118260	ENST00000430624;ENST00000432329;ENST00000353267;ENST00000445803;ENST00000421139;ENST00000536726;ENST00000374397;ENST00000539789;ENST00000448277;ENST00000457101	T;T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.86	5.86	0.93980	Coactivator CBP, pKID (2);	0.000000	0.85682	D	0.000000	D	0.88265	0.6390	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.87578	0.988;0.939;0.998	D	0.87671	0.2541	10	0.56958	D	0.05	-19.5613	20.1823	0.98208	0.0:0.0:1.0:0.0	.	138;138;152	F5H0V3;Q53X93;P16220	.;.;CREB1_HUMAN	Q	138;152;138;152;98;138;152;112;98;112	ENSP00000405539:E138Q;ENSP00000387699:E152Q;ENSP00000236995:E138Q;ENSP00000407227:E152Q;ENSP00000403678:E98Q;ENSP00000445892:E138Q;ENSP00000363518:E152Q;ENSP00000440809:E112Q;ENSP00000405711:E98Q;ENSP00000391125:E112Q	ENSP00000236995:E138Q	E	+	1	0	CREB1	208143197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.771000	0.95319	0.650000	0.86243	GAA	CREB1	-	pfam_Coactivator_CBP_pKID,pfscan_Coactivator_CBP_pKID		0.378	CREB1-001	KNOWN	basic|CCDS	protein_coding	CREB1	HGNC	protein_coding	OTTHUMT00000256467.3	G	NM_134442		208434952	1	no_errors	ENST00000432329	ensembl	human	known	70_37	missense	SNP	1.000	C	C	208434952	G	C	208434952	3	2	169	1	0	0	0	0	1	0	0	0	3859	1291	45	1	472	1	CREB1	2	208434952	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	5279054	208434952	34764421	12	32178										
FZD5	7855	genome.wustl.edu	37	chr2	208631837	208631837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gcccccgctcttgtggccgcGccgcgggcggcagcagcagc	16	18	1	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr2:208631837G>A	ENST00000295417.3	-	2	2180	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	543					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TTGTGGCCGCGCCGCGGGCGG	0.756																																																	0													4	4	4					2																	208631837		1942	3835	5777	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1627C>T	2.37:g.208631837G>A	ENSP00000354607:p.Arg543Cys		A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R543C	ENST00000295417.3	37	c.1627	CCDS33366.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141663	0.77775	.	.	ENSG00000163251	ENST00000295417	T	0.80738	-1.41	4.73	4.73	0.59995	.	0.489229	0.19325	N	0.117035	T	0.61615	0.2361	N	0.08118	0	0.58432	D	0.999999	D	0.56287	0.975	B	0.37387	0.248	T	0.71006	-0.4717	10	0.72032	D	0.01	.	13.077	0.59093	0.0:0.0:1.0:0.0	.	543	Q13467	FZD5_HUMAN	C	543	ENSP00000354607:R543C	ENSP00000354607:R543C	R	-	1	0	FZD5	208340082	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.145000	0.58065	2.448000	0.82819	0.561000	0.74099	CGC	FZD5	-	NULL		0.756	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	G	NM_003468		208631837	-1	no_errors	ENST00000295417	ensembl	human	known	70_37	missense	SNP	1.000	A	A	208631837	G	A	208631837	3	1	169	1	0	0	0	0	1	0	0	0	6151	1087	38	2	134	2	FZD5	2	208631837	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	196885	208631837	34567536	13	32179										
OXSR1	9943	genome.wustl.edu	37	chr3	38271862	38271862	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cttttcctctccagaataaaGaatttcttcaagaaaaaaca	3	9	3	3			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr3:38271862G>C	ENST00000446845.1	+	10	1264	c.892G>C	c.(892-894)Gaa>Caa	p.E298Q	OXSR1_ENST00000311806.3_Missense_Mutation_p.E298Q					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCAGAATAAAGAATTTCTTCA	0.299																																																	0													53	65	61					3																	38271862		2203	4288	6491	SO:0001583	missense	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.892G>C	3.37:g.38271862G>C	ENSP00000415851:p.Glu298Gln			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E298Q	ENST00000446845.1	37	c.892		3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694997	0.88830	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.22336	1.96;1.96	5.1	5.1	0.69264	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.78637	2.42	0.80722	D	1	D;P	0.53462	0.96;0.928	P;P	0.53224	0.721;0.637	T	0.43343	-0.9397	10	0.72032	D	0.01	-22.2596	17.882	0.88843	0.0:0.0:1.0:0.0	.	298;298	C9JIG9;O95747	.;OXSR1_HUMAN	Q	298	ENSP00000415851:E298Q;ENSP00000311713:E298Q	ENSP00000311713:E298Q	E	+	1	0	OXSR1	38246866	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.390000	0.90175	2.551000	0.86045	0.585000	0.79938	GAA	OXSR1	-	superfamily_Kinase-like_dom		0.299	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	OXSR1	HGNC	protein_coding	OTTHUMT00000342708.1	G	NM_005109		38271862	1	no_errors	ENST00000311806	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38271862	G	C	38271862	3	2	169	1	0	0	0	0	1	0	0	0	11360	943	33	1	930	1	OXSR1	3	38271862	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09		38271862	159750568	14	32180										
PCOLCE2	26577	genome.wustl.edu	37	chr3	142542411	142542411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	taattgccctccagagtcccCgtccgtctacacttttgttg	7	14	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr3:142542411C>T	ENST00000295992.3	-	7	1218	c.912G>A	c.(910-912)acG>acA	p.T304T	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	304	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.T304T(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCAGAGTCCCCGTCCGTCTAC	0.388																																																	1	Substitution - coding silent(1)	lung(1)											82	87	86					3																	142542411		2203	4300	6503	SO:0001819	synonymous_variant	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.912G>A	3.37:g.142542411C>T			B2RCH9|D3DNG4|Q9BRH3	Silent	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.T304	ENST00000295992.3	37	c.912	CCDS3127.1	3																																																																																			PCOLCE2	-	superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain		0.388	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	C	NM_013363		142542411	-1	no_errors	ENST00000295992	ensembl	human	known	70_37	silent	SNP	0.030	T	T	142542411	C	T	142542411	2	4	169	1	0	0	0	0	0	0	0	1	11619	639	23	2		2	PCOLCE2	3	142542411	Silent	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	104270549	142542411	55480019	15	32181										
TBC1D1	23216	genome.wustl.edu	37	chr4	38051422	38051422	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gtcacttccccatcgaatgcCaggaacctccacaacctgcc	6	18	1	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr4:38051422C>T	ENST00000261439.4	+	11	2168	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.Q605*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	605					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CATCGAATGCCAGGAACCTCC	0.582																																																	0													58	62	61					4																	38051422		2203	4300	6503	SO:0001587	stop_gained	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1813C>T	4.37:g.38051422C>T	ENSP00000261439:p.Gln605*		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.Q605*	ENST00000261439.4	37	c.1813	CCDS33972.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.131620|6.131620	0.97310|0.97310	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000508802;ENST00000261439;ENST00000446803;ENST00000421339	.|.	.|.	.|.	5.06|5.06	3.29|3.29	0.37713|0.37713	.|.	.|0.470497	.|0.19702	.|N	.|0.108016	T|.	0.19366|.	0.0465|.	.|.	.|.	.|.	0.24599|0.24599	N|N	0.99379|0.99379	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19745|.	-1.0296|.	4|.	.|0.08599	.|T	.|0.76	-8.8143|-8.8143	10.3568|10.3568	0.43969|0.43969	0.0:0.7898:0.1364:0.0737|0.0:0.7898:0.1364:0.0737	.|.	.|.	.|.	.|.	L|X	252|605;605;476;73	.|.	.|ENSP00000261439:Q605X	P|Q	+|+	2|1	0|0	TBC1D1|TBC1D1	37727817|37727817	0.865000|0.865000	0.29922|0.29922	0.043000|0.043000	0.18650|0.18650	0.153000|0.153000	0.21895|0.21895	3.071000|3.071000	0.50041|0.50041	1.240000|1.240000	0.43803|0.43803	0.655000|0.655000	0.94253|0.94253	CCA|CAG	TBC1D1	-	NULL		0.582	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	C	NM_015173		38051422	1	no_errors	ENST00000261439	ensembl	human	known	70_37	nonsense	SNP	0.042	T	T	38051422	C	T	38051422	4	4	169	1	0	0	0	0	0	1	0	0	15627	595	21	4	1851	4	TBC1D1	4	38051422	Nonsense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		38051422	153102854	16	32182										
TSPAN5	10098	genome.wustl.edu	37	chr4	99397456	99397456	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tacaatctgctggtcaacttCcttcacaagagaagaggaga	9	9	3	3			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr4:99397456C>G	ENST00000305798.3	-	7	1027	c.625G>C	c.(625-627)Gaa>Caa	p.E209Q	TSPAN5_ENST00000509168.1_5'Flank|TSPAN5_ENST00000505184.1_Splice_Site_p.E138Q	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	209					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TGGTCAACTTCCTTCACAAGA	0.473																																																	0													129	118	122					4																	99397456		2203	4300	6503	SO:0001630	splice_region_variant	10098				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"Tetraspanins"	17753	protein-coding gene	gene with protein product		613136	"transmembrane 4 superfamily member 9"	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.625-1G>C	4.37:g.99397456C>G			B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.E209Q	ENST00000305798.3	37	c.625	CCDS3646.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998243	0.74818	.	.	ENSG00000168785	ENST00000305798;ENST00000505184	T;T	0.79247	-1.25;-1.25	5.66	5.66	0.87406	Tetraspanin, EC2 domain (1);	0.045348	0.85682	D	0.000000	T	0.70343	0.3213	L	0.35542	1.07	0.58432	D	0.999999	B	0.18741	0.03	B	0.19666	0.026	T	0.63800	-0.6555	10	0.17832	T	0.49	.	19.7302	0.96179	0.0:1.0:0.0:0.0	.	209	P62079	TSN5_HUMAN	Q	209;138	ENSP00000307701:E209Q;ENSP00000423916:E138Q	ENSP00000307701:E209Q	E	-	1	0	TSPAN5	99616479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.822000	0.69265	2.669000	0.90835	0.585000	0.79938	GAA	TSPAN5	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.473	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN5	HGNC	protein_coding	OTTHUMT00000253641.2	C	NM_005723	Missense_Mutation	99397456	-1	no_errors	ENST00000305798	ensembl	human	known	70_37	missense	SNP	1.000	G	G	99397456	C	G	99397456	5	3	169	1	0	0	0	0	0	0	1	0	16681	869	30	1	189	1	TSPAN5	4	99397456	Splice_Site	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	61346034	99397456	91756820	17	32183										
TNIP3	79931	genome.wustl.edu	37	chr4	122082291	122082291	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	agcgaatatttctaagttacCtcttttctttgtttttccaa	4	8	3	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr4:122082291C>A	ENST00000509841.1	-	5	456	c.378G>T	c.(376-378)gaG>gaT	p.E126D	TNIP3_ENST00000057513.3_Splice_Site_p.E49D|TNIP3_ENST00000507879.1_Splice_Site_p.E119D|TNIP3_ENST00000454328.1_Splice_Site_p.E49D	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCTAAGTTACCTCTTTTCTTT	0.323																																																	0													153	145	148					4																	122082291		2185	4290	6475	SO:0001630	splice_region_variant	79931			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.378+1G>T	4.37:g.122082291C>A				Missense_Mutation	SNP	NULL	p.E49D	ENST00000509841.1	37	c.147	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540287	0.65085	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.60299	0.35;0.35;0.2;0.2	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000001	T	0.71837	0.3387	M	0.64260	1.97	0.58432	D	0.999997	P;D;D	0.89917	0.77;0.998;1.0	P;D;D	0.83275	0.647;0.99;0.996	T	0.71279	-0.4640	9	.	.	.	-23.4062	14.0116	0.64500	0.0:1.0:0.0:0.0	.	119;49;49	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	D	49;49;119;126	ENSP00000057513:E49D;ENSP00000411817:E49D;ENSP00000427106:E119D;ENSP00000426613:E126D	.	E	-	3	2	TNIP3	122301741	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.879000	0.56138	2.576000	0.86940	0.491000	0.48974	GAG	TNIP3	-	NULL		0.323	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4	C	NM_024873	Missense_Mutation	122082291	-1	no_errors	ENST00000057513	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122082291	C	A	122082291	5	1	169	1	0	0	0	0	0	0	1	0	16346	695	24	4	870	4	TNIP3	4	122082291	Splice_Site	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	22684835	122082291	69071985	18	32184										
NAF1	92345	genome.wustl.edu	37	chr4	164048226	164048226	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tgactcacttgactgcaatgGtctggatccgaggccacaat	10	11	2	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr4:164048226G>T	ENST00000274054.2	-	0	1907				NAF1_ENST00000422287.2_Missense_Mutation_p.P359T|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein						pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				gactgcaatggtctggatccg	0.393																																																	0													95	87	90					4																	164048226		692	1591	2283	SO:0001628	intergenic_variant	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8			4.37:g.164048226G>T			D3DP28|E9PAZ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel	p.P359T	ENST00000274054.2	37	c.1075	CCDS3803.1	4	.	.	.	.	.	.	.	.	.	.	G	0.077	-1.191440	0.01607	.	.	ENSG00000145414	ENST00000422287	T	0.35421	1.31	0.55	-0.365	0.12549	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.31586	-0.9938	8	0.13853	T	0.58	.	.	.	.	.	359	E9PAZ2	.	T	359	ENSP00000408963:P359T	ENSP00000408963:P359T	P	-	1	0	NAF1	164267676	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.371000	0.07513	-0.267000	0.09325	-0.263000	0.10527	CCA	NAF1	-	NULL		0.393	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2	G	NM_138386		164048226	-1	no_errors	ENST00000422287	ensembl	human	known	70_37	missense	SNP	0.001	T	T	164048226	G	T	164048226	1	4	169	0	1	0	0	0	0	0	0	0	10163	1261	44	4		4	NAF1	4	164048226	IGR	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	41965935	164048226	27106050	19	32185										
FAT1	2195	genome.wustl.edu	37	chr4	187542656	187542656	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ttatttcatacaccactgatGattgactatgggctgtaacc	7	9	1	3			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr4:187542656G>C	ENST00000441802.2	-	10	5293	c.5084C>G	c.(5083-5085)tCa>tGa	p.S1695*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1695	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACCACTGATGATTGACTATG	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													116	113	114					4																	187542656		1868	4116	5984	SO:0001587	stop_gained	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5084C>G	4.37:g.187542656G>C	ENSP00000406229:p.Ser1695*			Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1695*	ENST00000441802.2	37	c.5084	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	45	11.950173	0.99620	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8314	0.92141	0.0:0.0:1.0:0.0	.	.	.	.	X	1695;1697	.	ENSP00000260147:S1697X	S	-	2	0	FAT1	187779650	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.601000	0.98297	2.751000	0.94390	0.650000	0.86243	TCA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187542656	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	187542656	G	C	187542656	4	2	169	1	0	0	0	0	0	1	0	0	5707	1294	45	1	8754	1	FAT1	4	187542656	Nonsense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	23494430	187542656	3611620	20	32186										
DNAH5	1767	genome.wustl.edu	37	chr5	13920589	13920589	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gtttggtttctcaaaattacCtgttctgtctgtttgatcca	7	8	3	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr5:13920589C>G	ENST00000265104.4	-	6	902	c.798G>C	c.(796-798)caG>caC	p.Q266H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	266	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAAAATTACCTGTTCTGTCT	0.398									Kartagener syndrome																																								0													237	206	217					5																	13920589		2203	4300	6503	SO:0001630	splice_region_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.798+1G>C	5.37:g.13920589C>G			Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q266H	ENST00000265104.4	37	c.798	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	.	25.9	4.682239	0.88542	.	.	ENSG00000039139	ENST00000265104	T	0.56444	0.46	6.17	6.17	0.99709	Dynein heavy chain, domain-1 (1);	0.130029	0.53938	D	0.000045	T	0.65386	0.2686	M	0.78916	2.43	0.80722	D	1	B	0.28760	0.221	B	0.39771	0.309	T	0.59236	-0.7492	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	266	Q8TE73	DYH5_HUMAN	H	266	ENSP00000265104:Q266H	.	Q	-	3	2	DNAH5	13973589	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.642000	0.67888	2.941000	0.99782	0.655000	0.94253	CAG	DNAH5	-	pfam_Dynein_heavy_dom-1		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	C	NM_001369	Missense_Mutation	13920589	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	G	G	13920589	C	G	13920589	5	3	169	1	0	0	0	0	0	0	1	0	4614	695	24	4	13372	4	DNAH5	5	13920589	Splice_Site	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		13920589	166994671	21	32187										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33576359	33576359	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tgccgtctttcctgagggttCtggctggtggtctcctccca	12	13	3	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr5:33576359C>G	ENST00000504830.1	-	19	4107	c.3772G>C	c.(3772-3774)Gaa>Caa	p.E1258Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1173Q|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1258	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTGAGGGTTCTGGCTGGTGG	0.517										HNSCC(64;0.19)																																							0													170	171	171					5																	33576359		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3772G>C	5.37:g.33576359C>G	ENSP00000422554:p.Glu1258Gln		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1258Q	ENST00000504830.1	37	c.3772	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	0.215	-1.033500	0.02029	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58797	0.31;0.31	5.33	-1.81	0.07882	.	1.796830	0.02387	N	0.079301	T	0.36771	0.0979	N	0.14661	0.345	0.09310	N	1	B;B	0.27068	0.167;0.104	B;B	0.23716	0.048;0.013	T	0.14254	-1.0479	10	0.16420	T	0.52	.	6.848	0.23998	0.1139:0.4315:0.0:0.4545	.	1173;1258	P58397-3;P58397	.;ATS12_HUMAN	Q	1258;1173	ENSP00000422554:E1258Q;ENSP00000344847:E1173Q	ENSP00000344847:E1173Q	E	-	1	0	ADAMTS12	33612116	0.000000	0.05858	0.006000	0.13384	0.074000	0.17049	-1.421000	0.02455	-0.031000	0.13781	0.591000	0.81541	GAA	ADAMTS12	-	NULL		0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33576359	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.000	G	G	33576359	C	G	33576359	3	3	169	1	0	0	0	0	1	0	0	0	257	922	32	1	1036	1	ADAMTS12	5	33576359	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	19655770	33576359	147338901	22	32188										
PIK3R1	5295	genome.wustl.edu	37	chr5	67591146	67591147	+	In_Frame_Ins	INS	-	-	CTT													0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	agaaagacgagagaccaataINScttgatgtaagtatttgaaa							TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr5:67591146_67591147insCTT	ENST00000521381.1	+	13	2355_2356	c.1739_1740insCTT	c.(1738-1743)tacttg>taCTTcttg	p.580_581YL>YFL	PIK3R1_ENST00000274335.5_In_Frame_Ins_p.580_581YL>YFL|PIK3R1_ENST00000521657.1_In_Frame_Ins_p.580_581YL>YFL|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.280_281YL>YFL|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.217_218YL>YFL|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.310_311YL>YFL|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.580_581YL>YFL	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	580					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGAGACCAATACTTGATGTAAG	0.371			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	4	Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - Frameshift(1)|Unknown(1)	large_intestine(1)|lung(1)|central_nervous_system(1)|endometrium(1)																																								SO:0001652	inframe_insertion	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1740_1742dupCTT	5.37:g.67591147_67591149dupCTT	ENSP00000428056:p.Tyr580_Leu581insPhe		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.581in_frame_insF	ENST00000521381.1	37	c.1739_1740	CCDS3993.1	5																																																																																			PIK3R1	-	prints_PI3kinase_P85		0.371	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	-	NM_181504		67591147	1	no_errors	ENST00000396611	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	CTT	CTT	67591147	-	CTT	67591146	7	5	169	1	0	1	1	0	0	0	0	0	11942	391	14	0	1915	0	PIK3R1	5	67591146	In_Frame_Ins	INS	-	TCGA-LP-A4AW-01A-11D-A243-09	34014787	67591146	113324114	23	32189										
FBN2	2201	genome.wustl.edu	37	chr5	127641259	127641259	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cggcacattcacagcggtaaCtaccaggactattgatgcag	10	11	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr5:127641259C>G	ENST00000508053.1	-	50	6592	c.5618G>C	c.(5617-5619)aGt>aCt	p.S1873T	FBN2_ENST00000262464.4_Missense_Mutation_p.S1873T			P35556	FBN2_HUMAN	fibrillin 2	1873	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAGCGGTAACTACCAGGACT	0.453																																																	0													99	96	97					5																	127641259		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5618G>C	5.37:g.127641259C>G	ENSP00000424571:p.Ser1873Thr		B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.S1873T	ENST00000508053.1	37	c.5618	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631499	0.46944	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.94793	-3.52;-3.52	5.35	5.35	0.76521	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	M	0.67569	2.06	0.47123	D	0.99932	B	0.15719	0.014	B	0.17722	0.019	D	0.89963	0.4088	10	0.59425	D	0.04	.	15.1368	0.72572	0.0:0.8593:0.1407:0.0	.	1873	P35556	FBN2_HUMAN	T	1873	ENSP00000262464:S1873T;ENSP00000424571:S1873T	ENSP00000262464:S1873T	S	-	2	0	FBN2	127669158	1.000000	0.71417	0.995000	0.50966	0.427000	0.31564	5.497000	0.66924	2.941000	0.99782	0.655000	0.94253	AGT	FBN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127641259	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127641259	C	G	127641259	3	3	169	1	0	0	0	0	1	0	0	0	5721	565	20	4	3208	4	FBN2	5	127641259	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	60050113	127641259	53274001	24	32190										
MDC1	9656	genome.wustl.edu	37	chr6	30672609	30672609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	aggctggagctcaggggctgTggggacaactgtttcagggg	19	7	2	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr6:30672609T>C	ENST00000376406.3	-	10	4998	c.4351A>G	c.(4351-4353)Aca>Gca	p.T1451A	MDC1_ENST00000376405.2_Missense_Mutation_p.T1187A|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1451	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCAGGGGCTGTGGGGACAACT	0.567								Other conserved DNA damage response genes																																									0													116	126	122					6																	30672609		2203	4300	6503	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4351A>G	6.37:g.30672609T>C	ENSP00000365588:p.Thr1451Ala		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.T1451A	ENST00000376406.3	37	c.4351	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	T	11.29	1.594648	0.28445	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.13089	2.62;2.62	4.0	-3.89	0.04193	.	.	.	.	.	T	0.10423	0.0255	M	0.71036	2.16	0.09310	N	1	D;B	0.53619	0.961;0.131	P;B	0.58454	0.839;0.074	T	0.09250	-1.0683	9	0.38643	T	0.18	-0.3402	3.113	0.06365	0.4951:0.2111:0.0:0.2938	.	1187;1451	Q14676-2;Q14676	.;MDC1_HUMAN	A	1451;1187;1164;1017	ENSP00000365588:T1451A;ENSP00000365587:T1187A	ENSP00000365587:T1187A	T	-	1	0	MDC1	30780588	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.371000	0.07513	-0.392000	0.07751	0.369000	0.22263	ACA	MDC1	-	NULL		0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	T	NM_014641		30672609	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	missense	SNP	0.000	C	C	30672609	T	C	30672609	3	2	169	1	0	0	0	0	1	0	0	0	9426	1696	59	5	1942	5	MDC1	6	30672609	Missense_Mutation	SNP	T	TCGA-LP-A4AW-01A-11D-A243-09		30672609	140442458	25	32191										
MDC1	9656	genome.wustl.edu	37	chr6	30673161	30673161	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ttttcttcccctagtagcctGatatgtgggctcagaagtga	10	9	2	3			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr6:30673161G>C	ENST00000376406.3	-	10	4446	c.3799C>G	c.(3799-3801)Cag>Gag	p.Q1267E	MDC1_ENST00000376405.2_Missense_Mutation_p.Q1003E|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1267	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTAGTAGCCTGATATGTGGGC	0.572								Other conserved DNA damage response genes																																									0													131	148	142					6																	30673161		2202	4299	6501	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3799C>G	6.37:g.30673161G>C	ENSP00000365588:p.Gln1267Glu		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.Q1267E	ENST00000376406.3	37	c.3799	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206192	0.01568	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104	T;T	0.08807	3.05;3.05	3.15	2.25	0.28309	.	1.570440	0.04431	N	0.369160	T	0.01523	0.0049	L	0.31926	0.97	0.09310	N	1	B;B	0.31817	0.341;0.231	B;B	0.25140	0.058;0.026	T	0.34030	-0.9845	10	0.05721	T	0.95	.	7.6422	0.28300	0.0:0.0:0.7474:0.2526	.	1003;1267	Q14676-2;Q14676	.;MDC1_HUMAN	E	1267;1003;874	ENSP00000365588:Q1267E;ENSP00000365587:Q1003E	ENSP00000365587:Q1003E	Q	-	1	0	MDC1	30781140	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.038000	0.13862	0.886000	0.36113	0.478000	0.44815	CAG	MDC1	-	NULL		0.572	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30673161	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	missense	SNP	0.001	C	C	30673161	G	C	30673161	3	2	169	1	0	0	0	0	1	0	0	0	9426	1299	45	1	2494	1	MDC1	6	30673161	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	552	30673161	140441906	26	32192										
RGL2	5863	genome.wustl.edu	37	chr6	33263343	33263343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tctgtgggggacggagtggcCgtatggtcacctccccaggt	16	11	2	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr6:33263343C>T	ENST00000497454.1	-	7	1457	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.R239Q|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	321	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACGGAGTGGCCGTATGGTCAC	0.602																																																	0													44	46	45					6																	33263343		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.962G>A	6.37:g.33263343C>T	ENSP00000420211:p.Arg321Gln		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R321Q	ENST00000497454.1	37	c.962	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125779	0.77436	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.11930	2.77;2.73	4.91	4.91	0.64330	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.294250	0.31010	N	0.008436	T	0.06735	0.0172	N	0.11131	0.1	0.32534	N	0.534581	D;P	0.69078	0.997;0.641	P;B	0.51487	0.671;0.223	T	0.07195	-1.0785	10	0.72032	D	0.01	.	13.4774	0.61316	0.0:1.0:0.0:0.0	.	239;321	B4DG72;O15211	.;RGL2_HUMAN	Q	321;185;239	ENSP00000420211:R321Q;ENSP00000403070:R239Q	ENSP00000400083:R185Q	R	-	2	0	RGL2	33371321	0.313000	0.24554	0.991000	0.47740	0.989000	0.77384	3.339000	0.52135	2.542000	0.85734	0.643000	0.83706	CGG	RGL2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.602	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	C			33263343	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33263343	C	T	33263343	3	4	169	1	0	0	0	0	1	0	0	0	13307	652	23	2	1419	2	RGL2	6	33263343	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	2590182	33263343	137851724	27	32193										
BAI3	577	genome.wustl.edu	37	chr6	69349167	69349167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	acaaaatgcacctgccctcaGcatttgggagagtgggggat	13	9	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr6:69349167G>T	ENST00000370598.1	+	3	1421	c.600G>T	c.(598-600)caG>caT	p.Q200H		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	200					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTGCCCTCAGCATTTGGGAG	0.478																																																	0													66	65	65					6																	69349167		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.600G>T	6.37:g.69349167G>T	ENSP00000359630:p.Gln200His		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.Q200H	ENST00000370598.1	37	c.600	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690898	0.68271	.	.	ENSG00000135298	ENST00000370598	T	0.21734	1.99	5.12	4.25	0.50352	.	0.000000	0.64402	D	0.000004	T	0.21186	0.0510	L	0.40543	1.245	0.80722	D	1	D	0.57571	0.98	D	0.66979	0.948	T	0.02326	-1.1176	10	0.66056	D	0.02	.	8.5241	0.33293	0.2346:0.0:0.7654:0.0	.	200	O60242	BAI3_HUMAN	H	200	ENSP00000359630:Q200H	ENSP00000359630:Q200H	Q	+	3	2	BAI3	69405888	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.619000	0.61218	1.284000	0.44531	0.655000	0.94253	CAG	BAI3	-	NULL		0.478	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69349167	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	T	T	69349167	G	T	69349167	3	4	169	1	0	0	0	0	1	0	0	0	1301	962	34	4	602	4	BAI3	6	69349167	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	36085824	69349167	101765900	28	32194										
AKD1	221264	genome.wustl.edu	37	chr6	109835543	109835543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tcataaatttttcttttgttTctttactagataaaaaataa	2	4	3	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr6:109835543T>C	ENST00000424296.2	-	32	4239	c.4163A>G	c.(4162-4164)gAa>gGa	p.E1388G		NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1388					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTCTTTTGTTTCTTTACTAGA	0.358																																																	0													151	132	138					6																	109835543		692	1591	2283	SO:0001583	missense	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4163A>G	6.37:g.109835543T>C	ENSP00000410186:p.Glu1388Gly		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.E1388G	ENST00000424296.2	37	c.4163	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.75|14.75	2.628733|2.628733	0.46944|0.46944	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000470564	T|.	0.68765|.	-0.35|.	5.28|5.28	-0.893|-0.893	0.10567|0.10567	.|.	.|.	.|.	.|.	.|.	T|T	0.34250|0.34250	0.0891|0.0891	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	B|.	0.12630|.	0.006|.	B|.	0.10450|.	0.005|.	T|T	0.34304|0.34304	-0.9834|-0.9834	8|5	.|.	.|.	.|.	.|.	3.1514|3.1514	0.06489|0.06489	0.12:0.1395:0.1102:0.6302|0.12:0.1395:0.1102:0.6302	.|.	1388|.	Q5TCS8|.	AKD1_HUMAN|.	G|E	1388|226	ENSP00000410186:E1388G|.	.|.	E|K	-|-	2|1	0|0	AKD1|AKD1	109942236|109942236	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.703000|0.703000	0.40648|0.40648	2.254000|2.254000	0.43214|0.43214	0.021000|0.021000	0.15133|0.15133	0.528000|0.528000	0.53228|0.53228	GAA|AAA	AKD1	-	NULL		0.358	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		T	NM_001145128		109835543	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	missense	SNP	0.983	C	C	109835543	T	C	109835543	3	2	169	1	0	0	0	0	1	0	0	0	460	1783	62	5	1612	5	AKD1	6	109835543	Missense_Mutation	SNP	T	TCGA-LP-A4AW-01A-11D-A243-09	40486376	109835543	61279524	29	32195										
SYNE1	23345	genome.wustl.edu	37	chr6	152603026	152603026	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	agagtggccttggtactcaaGagccagctgtccagctcatc	11	12	2	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr6:152603026G>T	ENST00000367255.5	-	97	18898	c.18297C>A	c.(18295-18297)ctC>ctA	p.L6099L	SYNE1_ENST00000356820.4_Silent_p.L623L|SYNE1_ENST00000448038.1_Silent_p.L6028L|SYNE1_ENST00000341594.5_Silent_p.L5711L|SYNE1_ENST00000423061.1_Silent_p.L6028L|SYNE1_ENST00000265368.4_Silent_p.L6099L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6099					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		TGGTACTCAAGAGCCAGCTGT	0.552										HNSCC(10;0.0054)																																							0													103	85	91					6																	152603026		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18297C>A	6.37:g.152603026G>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6099	ENST00000367255.5	37	c.18297	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152603026	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	0.979	T	T	152603026	G	T	152603026	2	4	169	1	0	0	0	0	0	0	0	1	15475	929	33	3		3	SYNE1	6	152603026	Silent	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	42767483	152603026	18512041	30	32196										
SYNE1	23345	genome.wustl.edu	37	chr6	152746609	152746610	+	Frame_Shift_Del	DEL	GA	GA	-													0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	catcatctttggaggctactGagaacaatgattccttcaat							TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr6:152746609_152746610delGA	ENST00000367255.5	-	39	5774_5775	c.5173_5174delTC	c.(5173-5175)tcafs	p.S1725fs	SYNE1_ENST00000448038.1_Frame_Shift_Del_p.S1732fs|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.S1732fs|SYNE1_ENST00000265368.4_Frame_Shift_Del_p.S1725fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1725					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		GGAGGCTACTGAGAACAATGAT	0.381										HNSCC(10;0.0054)																																							0																																										SO:0001589	frameshift_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5173_5174delTC	6.37:g.152746611_152746612delGA	ENSP00000356224:p.Ser1725fs		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V1726fs	ENST00000367255.5	37	c.5174_5173	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.381	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	GA	NM_182961		152746610	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	frame_shift_del	DEL	0.929:0.933	-	-	152746610	GA	-	152746609	7	5	169	1	0	1	0	1	0	0	0	0	15475	1294	45	0	21724	0	SYNE1	6	152746609	Frame_Shift_Del	DEL	GA	TCGA-LP-A4AW-01A-11D-A243-09	143583	152746609	18368458	31	32197										
CHN2	1124	genome.wustl.edu	37	chr7	29438060	29438060	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ggagggtgcctacatccttaGagaaagccagcggcaaccag	13	11	0	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr7:29438060G>C	ENST00000222792.6	+	5	778	c.248G>C	c.(247-249)aGa>aCa	p.R83T	CHN2_ENST00000539406.1_Missense_Mutation_p.R158T|CHN2_ENST00000546235.1_Missense_Mutation_p.R68T|CHN2_ENST00000495789.2_Missense_Mutation_p.R96T|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000435288.2_Missense_Mutation_p.R83T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	83	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TACATCCTTAGAGAAAGCCAG	0.517																																					Ovarian(1;44 48 13232 18918 31480)												0													143	119	127					7																	29438060		2203	4300	6503	SO:0001583	missense	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.248G>C	7.37:g.29438060G>C	ENSP00000222792:p.Arg83Thr		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.R158T	ENST00000222792.6	37	c.473	CCDS5420.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.188398	0.94923	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000546235	D;D;D;D;D;D;D	0.99287	-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69	5.44	5.44	0.79542	SH2 motif (4);	0.100359	0.64402	D	0.000003	D	0.99729	0.9894	H	0.99011	4.4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.985;0.996;0.991;0.985	D;D;D;D;D	0.97110	1.0;0.977;0.99;0.987;0.977	D	0.97078	0.9782	10	0.87932	D	0	.	18.8374	0.92168	0.0:0.0:1.0:0.0	.	68;96;158;83;83	B7Z1W9;B7Z1V0;F5H003;A4D1A2;P52757	.;.;.;.;CHIO_HUMAN	T	158;158;83;83;96;96;68	ENSP00000409843:R158T;ENSP00000444063:R158T;ENSP00000222792:R83T;ENSP00000400282:R83T;ENSP00000386968:R96T;ENSP00000438587:R96T;ENSP00000442812:R68T	ENSP00000222792:R83T	R	+	2	0	CHN2	29404585	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	9.169000	0.94788	2.553000	0.86117	0.467000	0.42956	AGA	CHN2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.517	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	HGNC	protein_coding	OTTHUMT00000214228.2	G	NM_004067		29438060	1	no_errors	ENST00000539406	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29438060	G	C	29438060	3	2	169	1	0	0	0	0	1	0	0	0	3368	942	33	1	266	1	CHN2	7	29438060	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09		29438060	129700603	32	32198										
GARS	2617	genome.wustl.edu	37	chr7	30671904	30671904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gagtatctcacaaagtagacGattcctctgggtcaatcgga	10	9	3	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr7:30671904G>A	ENST00000389266.3	+	16	2186	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	649					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAGTAGACGATTCCTCTGG	0.448																																																	0													91	87	89					7																	30671904		1948	4140	6088	SO:0001583	missense	2617			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1945G>A	7.37:g.30671904G>A	ENSP00000373918:p.Asp649Asn		B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,prints_tRNA-synt_gly,tigrfam_tRNA-synt_gly	p.D649N	ENST00000389266.3	37	c.1945	CCDS43564.1	7	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943551	0.92593	.	.	ENSG00000106105	ENST00000389266	D	0.84298	-1.83	5.33	5.33	0.75918	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	M	0.89840	3.065	0.80722	D	1	P	0.37352	0.591	B	0.29598	0.104	D	0.89018	0.3433	10	0.62326	D	0.03	-23.0128	16.9662	0.86286	0.0:0.0:1.0:0.0	.	649	P41250	SYG_HUMAN	N	649	ENSP00000373918:D649N	ENSP00000373918:D649N	D	+	1	0	GARS	30638429	1.000000	0.71417	0.904000	0.35570	0.729000	0.41735	9.827000	0.99397	2.688000	0.91661	0.460000	0.39030	GAT	GARS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_tRNA-synt_gly		0.448	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GARS	HGNC	protein_coding	OTTHUMT00000327735.1	G	NM_002047		30671904	1	no_errors	ENST00000389266	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30671904	G	A	30671904	3	1	169	1	0	0	0	0	1	0	0	0	6261	1058	37	1	2007	1	GARS	7	30671904	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	1233844	30671904	128466759	33	32199										
CASD1	64921	genome.wustl.edu	37	chr7	94167172	94167172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tccaattatctacattttggTtttgggagtattttataatg	7	4	1	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr7:94167172T>C	ENST00000297273.4	+	9	1519	c.1232T>C	c.(1231-1233)gTt>gCt	p.V411A		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	411						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TACATTTTGGTTTTGGGAGTA	0.294																																																	0													42	48	46					7																	94167172		2199	4295	6494	SO:0001583	missense	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1232T>C	7.37:g.94167172T>C	ENSP00000297273:p.Val411Ala		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.V411A	ENST00000297273.4	37	c.1232	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	T	8.353	0.831428	0.16820	.	.	ENSG00000127995	ENST00000297273	T	0.47528	0.84	5.51	3.04	0.35103	.	0.060781	0.64402	D	0.000005	T	0.37019	0.0988	L	0.31804	0.96	0.52099	D	0.999945	P;P	0.41710	0.76;0.76	P;P	0.45538	0.484;0.484	T	0.07693	-1.0759	10	0.07030	T	0.85	.	12.7134	0.57102	0.0:0.0:0.2317:0.7683	.	411;411	Q8WZ77;Q96PB1	.;CASD1_HUMAN	A	411	ENSP00000297273:V411A	ENSP00000297273:V411A	V	+	2	0	CASD1	94005108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.838000	0.86804	0.431000	0.26258	0.477000	0.44152	GTT	CASD1	-	pfam_Cas1_AcylTrans_dom		0.294	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	T	NM_022900		94167172	1	no_errors	ENST00000297273	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94167172	T	C	94167172	3	2	169	1	0	0	0	0	1	0	0	0	2669	1725	60	5	1266	5	CASD1	7	94167172	Missense_Mutation	SNP	T	TCGA-LP-A4AW-01A-11D-A243-09	63495268	94167172	64971491	34	32200										
SLC13A4	26266	genome.wustl.edu	37	chr7	135390911	135390911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cttcggtgttggagttgcccGccacgagctgctcgtcctca	12	14	1	0	rs543900359		TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr7:135390911G>A	ENST00000354042.4	-	4	1192	c.503C>T	c.(502-504)gCg>gTg	p.A168V	RP11-644N4.1_ENST00000609370.1_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	168					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGAGTTGCCCGCCACGAGCTG	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		18689	0		0	False		,,,				2504	0																0													102	88	92					7																	135390911		2203	4300	6503	SO:0001583	missense	26266			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.503C>T	7.37:g.135390911G>A	ENSP00000297282:p.Ala168Val		A4D1Q4|Q8N631	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.A168V	ENST00000354042.4	37	c.503	CCDS5840.1	7	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354237	0.24512	.	.	ENSG00000164707	ENST00000354042	T	0.03330	3.97	4.76	3.86	0.44501	.	0.635877	0.15635	N	0.252182	T	0.03608	0.0103	L	0.45352	1.415	0.09310	N	1	P	0.36959	0.575	B	0.34301	0.179	T	0.42137	-0.9469	10	0.30078	T	0.28	.	6.0955	0.20019	0.0968:0.0:0.7006:0.2026	.	168	Q9UKG4	S13A4_HUMAN	V	168	ENSP00000297282:A168V	ENSP00000297282:A168V	A	-	2	0	SLC13A4	135041451	0.221000	0.23642	0.022000	0.16811	0.564000	0.35744	2.333000	0.43912	1.099000	0.41499	0.462000	0.41574	GCG	SLC13A4	-	pfam_Na/sul_symport		0.617	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	HGNC	protein_coding	OTTHUMT00000340558.1	G	NM_012450		135390911	-1	no_errors	ENST00000354042	ensembl	human	known	70_37	missense	SNP	0.003	A	A	135390911	G	A	135390911	3	1	169	1	0	0	0	0	1	0	0	0	14424	1087	38	2	1429	2	SLC13A4	7	135390911	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	41223739	135390911	23747752	35	32201										
ANGPT2	285	genome.wustl.edu	37	chr8	6360664	6360664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	atcatggttgtggccttgagCgaatagcctgagcctttcca	11	10	1	2	rs556882297		TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr8:6360664C>T	ENST00000325203.5	-	9	1923	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Silent_p.S431S|ANGPT2_ENST00000415216.1_Silent_p.S482S			O15123	ANGP2_HUMAN	angiopoietin 2	483	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGGCCTTGAGCGAATAGCCTG	0.458													C|||	1	0.000199681	0	0	5008	,	,		23538	0.001		0	False		,,,				2504	0																0													259	210	227					8																	6360664		2203	4300	6503	SO:0001819	synonymous_variant	285			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1449G>A	8.37:g.6360664C>T			A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.S483	ENST00000325203.5	37	c.1449	CCDS5958.1	8																																																																																			ANGPT2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.458	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANGPT2	HGNC	protein_coding	OTTHUMT00000206737.1	C	NM_001147		6360664	-1	no_errors	ENST00000325203	ensembl	human	known	70_37	silent	SNP	0.987	T	T	6360664	C	T	6360664	2	4	169	1	0	0	0	0	0	0	0	1	611	755	27	2		2	ANGPT2	8	6360664	Silent	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		6360664	140003358	36	32202										
VCPIP1	80124	genome.wustl.edu	37	chr8	67576721	67576721	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tgcctgtggtggcattaactCtttaggaggaaacccgtatc	11	9	1	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr8:67576721C>A	ENST00000310421.4	-	1	2731	c.2473G>T	c.(2473-2475)Gag>Tag	p.E825*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	825					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.E825Q(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGCATTAACTCTTTAGGAGGA	0.388																																					NSCLC(179;265 2915 6144 43644)												1	Substitution - Missense(1)	breast(1)											128	131	130					8																	67576721		2203	4300	6503	SO:0001587	stop_gained	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2473G>T	8.37:g.67576721C>A	ENSP00000309031:p.Glu825*		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E825*	ENST00000310421.4	37	c.2473	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	43	10.103702	0.99337	.	.	ENSG00000175073	ENST00000310421	.	.	.	5.59	5.59	0.84812	.	0.051565	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.0117	19.5838	0.95484	0.0:1.0:0.0:0.0	.	.	.	.	X	825	.	ENSP00000309031:E825X	E	-	1	0	VCPIP1	67739275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.613000	0.88420	0.655000	0.94253	GAG	VCPIP1	-	NULL		0.388	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67576721	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	67576721	C	A	67576721	4	1	169	1	0	0	0	0	0	1	0	0	17172	922	32	3	1207	3	VCPIP1	8	67576721	Nonsense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	61216057	67576721	78787301	37	32203										
ZFPM2	23414	genome.wustl.edu	37	chr8	106431433	106431433	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ccatcagaggaaacagacatCatctccaaaggagactttcc	7	12	3	3			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr8:106431433C>A	ENST00000407775.2	+	2	352	c.102C>A	c.(100-102)atC>atA	p.I34I	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	34					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAACAGACATCATCTCCAAAG	0.413																																																	0													96	92	93					8																	106431433		1849	4107	5956	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.102C>A	8.37:g.106431433C>A			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I34	ENST00000407775.2	37	c.102	CCDS47908.1	8																																																																																			ZFPM2	-	NULL		0.413	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	C			106431433	1	no_errors	ENST00000407775	ensembl	human	known	70_37	silent	SNP	0.993	A	A	106431433	C	A	106431433	2	1	169	1	0	0	0	0	0	0	0	1	17688	816	29	3		3	ZFPM2	8	106431433	Silent	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	38854712	106431433	39932589	38	32204										
NFX1	4799	genome.wustl.edu	37	chr9	33366700	33366700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ccggatcatccatgacttggCccaagtttatggcctggaga	11	11	1	2	rs569829262		TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr9:33366700C>T	ENST00000379540.3	+	22	3175	c.3113C>T	c.(3112-3114)gCc>gTc	p.A1038V	NFX1_ENST00000463421.1_3'UTR	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1038	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CATGACTTGGCCCAAGTTTAT	0.512																																																	0													109	93	98					9																	33366700		2203	4300	6503	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.3113C>T	9.37:g.33366700C>T	ENSP00000368856:p.Ala1038Val		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.A1038V	ENST00000379540.3	37	c.3113	CCDS6538.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.671259	0.96754	.	.	ENSG00000086102	ENST00000379540	T	0.68181	-0.31	6.07	6.07	0.98685	Single-stranded nucleic acid binding R3H (3);	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	L	0.41632	1.29	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.76881	-0.2795	10	0.72032	D	0.01	-3.5694	18.1378	0.89627	0.0:1.0:0.0:0.0	.	1038	Q12986	NFX1_HUMAN	V	1038	ENSP00000368856:A1038V	ENSP00000368856:A1038V	A	+	2	0	NFX1	33356700	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.636000	0.83301	2.884000	0.98904	0.655000	0.94253	GCC	NFX1	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.512	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	C			33366700	1	no_errors	ENST00000379540	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33366700	C	T	33366700	3	4	169	1	0	0	0	0	1	0	0	0	10411	739	26	4	3317	4	NFX1	9	33366700	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		33366700	107846731	39	32205										
ZNF484	83744	genome.wustl.edu	37	chr9	95609815	95609815	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gacttccggataaaggccttCccacattcagtacatacata	6	12	1	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr9:95609815C>T	ENST00000375495.3	-	5	1402	c.1254G>A	c.(1252-1254)ggG>ggA	p.G418G	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Silent_p.G382G|ZNF484_ENST00000332591.6_Silent_p.G382G|ZNF484_ENST00000395506.3_Silent_p.G420G	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TAAAGGCCTTCCCACATTCAG	0.358																																																	0													74	78	76					9																	95609815		2203	4300	6503	SO:0001819	synonymous_variant	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1254G>A	9.37:g.95609815C>T			B1AL89|B4DRI2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G420	ENST00000375495.3	37	c.1260	CCDS35066.1	9																																																																																			ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	C	XM_046861		95609815	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95609815	C	T	95609815	2	4	169	1	0	0	0	0	0	0	0	1	17967	842	30	1		1	ZNF484	9	95609815	Silent	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	62243115	95609815	45603616	40	32206										
CEL	1056	genome.wustl.edu	37	chr9	135942276	135942276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ggcgagccatcagccagagcGgcgtggccctgagtccctgg	16	14	1	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr9:135942276G>A	ENST00000372080.4	+	6	746	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	CEL_ENST00000351304.7_Missense_Mutation_p.G241S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	241					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGCCAGAGCGGCGTGGCCCT	0.647																																																	0													25	29	28					9																	135942276		1956	4141	6097	SO:0001583	missense	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.730G>A	9.37:g.135942276G>A	ENSP00000361151:p.Gly244Ser		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G244S	ENST00000372080.4	37	c.730	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.295682	0.95574	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	D;D	0.82255	-1.59;-1.59	5.16	5.16	0.70880	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.91707	0.7378	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92911	0.6347	10	0.87932	D	0	.	17.2362	0.86999	0.0:0.0:1.0:0.0	.	241	P19835	CEL_HUMAN	S	244;241;244	ENSP00000361151:G244S;ENSP00000342217:G241S	ENSP00000304021:G244S	G	+	1	0	CEL	134932097	1.000000	0.71417	0.646000	0.29493	0.990000	0.78478	8.953000	0.93041	2.413000	0.81919	0.549000	0.68633	GGC	CEL	-	pfam_CarbesteraseB		0.647	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	G			135942276	1	no_errors	ENST00000372080	ensembl	human	known	70_37	missense	SNP	0.998	A	A	135942276	G	A	135942276	3	1	169	1	0	0	0	0	1	0	0	0	3214	1116	39	2	752	2	CEL	9	135942276	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	40332461	135942276	5271155	41	32207										
ABCA2	20	genome.wustl.edu	37	chr9	139907165	139907165	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gcctccccacccagctcaccGgtgcagtcggaagcggtcgg	13	17	1	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr9:139907165G>A	ENST00000371605.3	-	30	5224	c.5077C>T	c.(5077-5079)Cgg>Tgg	p.R1693W	ABCA2_ENST00000341511.6_Splice_Site_p.R1694W|ABCA2_ENST00000265662.5_Splice_Site_p.R1694W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1693					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCAGCTCACCGGTGCAGTCGG	0.652																																																	0													31	39	36					9																	139907165		2067	4185	6252	SO:0001630	splice_region_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5078+1C>T	9.37:g.139907165G>A			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1694W	ENST00000371605.3	37	c.5080		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.90|19.90	3.913107|3.913107	0.72983|0.72983	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000477420|ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.|D;D;D	.|0.91792	.|-2.91;-2.9;-2.91	4.06|4.06	2.0|2.0	0.26442|0.26442	.|.	.|0.374892	.|0.14362	.|U	.|0.324386	D|D	0.94958|0.94958	0.8369|0.8369	M|M	0.74881|0.74881	2.28|2.28	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.993	D|D	0.93963|0.93963	0.7242|0.7242	5|10	.|0.87932	.|D	.|0	.|.	10.6561|10.6561	0.45675|0.45675	0.0:0.0:0.4092:0.5908|0.0:0.0:0.4092:0.5908	.|.	.|1693;1724	.|Q9BZC7;E7ETC3	.|ABCA2_HUMAN;.	L|W	105|1694;1693;1724;1694	.|ENSP00000265662:R1694W;ENSP00000360666:R1693W;ENSP00000344155:R1694W	.|ENSP00000265662:R1694W	P|R	-|-	2|1	0|2	ABCA2|ABCA2	139026986|139026986	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	2.565000|2.565000	0.45939|0.45939	1.036000|1.036000	0.39998|0.39998	0.491000|0.491000	0.48974|0.48974	CCG|CGG	ABCA2	-	NULL		0.652	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		G	NM_001606	Missense_Mutation	139907165	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139907165	G	A	139907165	5	1	169	1	0	0	0	0	0	0	1	0	32	1130	39	2	2306	2	ABCA2	9	139907165	Splice_Site	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	3964889	139907165	1306266	42	32208										
ABCA2	20	genome.wustl.edu	37	chr9	139916825	139916825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cgggcgggtccacacgggcgGccaagagtgcttgggccgtg	19	12	0	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr9:139916825G>A	ENST00000371605.3	-	5	689	c.542C>T	c.(541-543)gCc>gTc	p.A181V	ABCA2_ENST00000341511.6_Missense_Mutation_p.A182V|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Missense_Mutation_p.A182V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	181					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACACGGGCGGCCAAGAGTGC	0.652																																																	0													24	30	28					9																	139916825		2012	4143	6155	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.542C>T	9.37:g.139916825G>A	ENSP00000360666:p.Ala181Val		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A182V	ENST00000371605.3	37	c.545		9	.	.	.	.	.	.	.	.	.	.	g	5.218	0.225705	0.09916	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.86956	-2.19;-2.19;-2.19	4.39	2.45	0.29901	.	2.036410	0.04512	U	0.383087	T	0.76933	0.4057	N	0.08118	0	0.09310	N	1	B;B;B	0.23937	0.094;0.047;0.002	B;B;B	0.16722	0.014;0.016;0.007	T	0.64407	-0.6415	10	0.41790	T	0.15	.	10.6791	0.45804	0.0908:0.1672:0.742:0.0	.	181;211;212	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	V	182;181;212;182	ENSP00000265662:A182V;ENSP00000360666:A181V;ENSP00000344155:A182V	ENSP00000265662:A182V	A	-	2	0	ABCA2	139036646	0.412000	0.25392	0.127000	0.21898	0.004000	0.04260	1.082000	0.30803	0.829000	0.34733	-0.436000	0.05848	GCC	ABCA2	-	NULL		0.652	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		G	NM_001606		139916825	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	missense	SNP	0.027	A	A	139916825	G	A	139916825	3	1	169	1	0	0	0	0	1	0	0	0	32	1203	42	4	6941	4	ABCA2	9	139916825	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	9660	139916825	1296606	43	32209										
NSUN6	221078	genome.wustl.edu	37	chr10	18837049	18837049	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	aattactcctacctggggctGaagctgaaggcaaggaaatt	11	8	0	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr10:18837049G>A	ENST00000377304.4	-	10	1607	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*	RP11-499P20.2_ENST00000425669.1_RNA|NSUN6_ENST00000493816.1_5'UTR	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	397							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ACCTGGGGCTGAAGCTGAAGG	0.438																																																	0													68	60	63					10																	18837049		2203	4300	6503	SO:0001587	stop_gained	221078			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.1189C>T	10.37:g.18837049G>A	ENSP00000366519:p.Gln397*		B0YJ54	Nonsense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.Q397*	ENST00000377304.4	37	c.1189	CCDS7130.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.847742	0.98976	.	.	ENSG00000241058	ENST00000377304	.	.	.	5.87	5.87	0.94306	.	0.108833	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	.	.	.	X	397	.	ENSP00000366519:Q397X	Q	-	1	0	NSUN6	18877055	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.133000	0.57983	2.780000	0.95670	0.655000	0.94253	CAG	NSUN6	-	pfam_Fmu/NOL1/Nop2p		0.438	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1	G	NM_182543		18837049	-1	no_errors	ENST00000377304	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	18837049	G	A	18837049	4	1	169	1	0	0	0	0	0	1	0	0	10706	1299	45	1	228	1	NSUN6	10	18837049	Nonsense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09		18837049	116697698	44	32210										
MTPAP	55149	genome.wustl.edu	37	chr10	30604919	30604919	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	atatttatggaatttttatcGaaagcaaaattgccaaaata	5	4	0	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr10:30604919G>A	ENST00000263063.4	-	8	1402	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Silent_p.F583F	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	453	PAP-associated.				cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AATTTTTATCGAAAGCAAAAT	0.279																																																	0													30	30	30					10																	30604919		2197	4296	6493	SO:0001819	synonymous_variant	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1359C>T	10.37:g.30604919G>A			D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	pfam_PAP_assoc	p.F583	ENST00000263063.4	37	c.1749	CCDS7165.1	10																																																																																			MTPAP	-	pfam_PAP_assoc		0.279	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTPAP	HGNC	protein_coding	OTTHUMT00000047426.2	G	NM_018109		30604919	-1	no_errors	ENST00000358107	ensembl	human	known	70_37	silent	SNP	1.000	A	A	30604919	G	A	30604919	2	1	169	1	0	0	0	0	0	0	0	1	9979	1049	37	1		1	MTPAP	10	30604919	Silent	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	11767870	30604919	104929828	45	32211										
RASSF4	83937	genome.wustl.edu	37	chr10	45480397	45480397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cgacaccggttctctatcaaCggccacttctacaatcataa	5	14	4	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr10:45480397C>T	ENST00000340258.5	+	6	623	c.510C>T	c.(508-510)aaC>aaT	p.N170N	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.N179N	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCTCTATCAACGGCCACTTCT	0.652																																																	0													63	74	70					10																	45480397		2203	4300	6503	SO:0001819	synonymous_variant	83937			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.510C>T	10.37:g.45480397C>T			Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.N179	ENST00000340258.5	37	c.537	CCDS7208.1	10																																																																																			RASSF4	-	NULL		0.652	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF4	HGNC	protein_coding	OTTHUMT00000047745.2	C	NM_032023		45480397	1	no_errors	ENST00000334940	ensembl	human	known	70_37	silent	SNP	0.586	T	T	45480397	C	T	45480397	2	4	169	1	0	0	0	0	0	0	0	1	13118	535	19	2		2	RASSF4	10	45480397	Silent	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	14875478	45480397	90054350	46	32212										
SLC18A3	6572	genome.wustl.edu	37	chr10	50819083	50819083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tacacggccaacacctcggcGtccccgacagctgcgtggcc	11	18	0	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr10:50819083G>A	ENST00000374115.3	+	1	737	c.297G>A	c.(295-297)gcG>gcA	p.A99A	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	99					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACACCTCGGCGTCCCCGACAG	0.706																																																	0													41	42	42					10																	50819083		2203	4299	6502	SO:0001819	synonymous_variant	6572			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.297G>A	10.37:g.50819083G>A			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A99	ENST00000374115.3	37	c.297	CCDS7231.1	10																																																																																			SLC18A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.706	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	G	NM_003055		50819083	1	no_errors	ENST00000374115	ensembl	human	known	70_37	silent	SNP	0.690	A	A	50819083	G	A	50819083	2	1	169	1	0	0	0	0	0	0	0	1	14457	1132	40	2		2	SLC18A3	10	50819083	Silent	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	5338686	50819083	84715664	47	32213										
USP54	159195	genome.wustl.edu	37	chr10	75277079	75277079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	attccaggcatcaccggggaGgggttagcaggatccttctt	13	10	2	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr10:75277079G>A	ENST00000339859.4	-	19	3205	c.3105C>T	c.(3103-3105)ccC>ccT	p.P1035P	USP54_ENST00000428547.1_Silent_p.P885P|USP54_ENST00000408019.1_Silent_p.P1035P|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Silent_p.P217P|USP54_ENST00000394811.2_Silent_p.P123P|RP11-137L10.6_ENST00000600206.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1035					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCACCGGGGAGGGGTTAGCAG	0.532																																					Colon(195;880 2046 8854 25025 38456)												0													107	112	110					10																	75277079		2203	4300	6503	SO:0001819	synonymous_variant	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3105C>T	10.37:g.75277079G>A			A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.P1035	ENST00000339859.4	37	c.3105	CCDS7329.2	10																																																																																			USP54	-	NULL		0.532	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	G	NM_152586		75277079	-1	no_errors	ENST00000339859	ensembl	human	known	70_37	silent	SNP	0.000	A	A	75277079	G	A	75277079	2	1	169	1	0	0	0	0	0	0	0	1	17116	987	35	4		4	USP54	10	75277079	Silent	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	24457996	75277079	60257668	48	32214										
COMTD1	118881	genome.wustl.edu	37	chr10	76994715	76994715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cccagggtctccaaggcgggCttcagccggaggtcgatctt	14	13	3	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr10:76994715C>T	ENST00000372538.3	-	5	565	c.483G>A	c.(481-483)aaG>aaA	p.K161K	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	161						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	O-methyltransferase activity (GO:0008171)			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					CCAAGGCGGGCTTCAGCCGGA	0.687																																					Colon(106;1192 2596 47278)												0													15	11	12					10																	76994715		1982	3834	5816	SO:0001819	synonymous_variant	118881				CCDS7349.1	10q22.2	2013-09-20			ENSG00000165644	ENSG00000165644			26309	protein-coding gene	gene with protein product						12975309	Standard	NM_144589		Approved	FLJ23841	uc001jxb.3	Q86VU5	OTTHUMG00000018518	ENST00000372538.3:c.483G>A	10.37:g.76994715C>T			Q8TE79	Silent	SNP	pfam_O-MeTrfase_3	p.K161	ENST00000372538.3	37	c.483	CCDS7349.1	10	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518789	0.27211	.	.	ENSG00000165644	ENST00000536650	.	.	.	4.62	2.75	0.32379	.	.	.	.	.	T	0.62490	0.2432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61004	-0.7150	5	0.56958	D	0.05	-21.0696	8.5924	0.33695	0.0:0.8163:0.0:0.1837	.	.	.	.	T	150	.	ENSP00000444168:A150T	A	-	1	0	COMTD1	76664721	0.989000	0.36119	0.997000	0.53966	0.924000	0.55760	1.050000	0.30404	0.553000	0.29044	-0.300000	0.09419	GCC	COMTD1	-	pfam_O-MeTrfase_3		0.687	COMTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMTD1	HGNC	protein_coding	OTTHUMT00000048802.1	C	NM_144589		76994715	-1	no_errors	ENST00000372538	ensembl	human	known	70_37	silent	SNP	0.995	T	T	76994715	C	T	76994715	2	4	169	1	0	0	0	0	0	0	0	1	3731	796	28	4		4	COMTD1	10	76994715	Silent	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	1717636	76994715	58540032	49	32215										
PDCD4	27250	genome.wustl.edu	37	chr10	112650326	112650326	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ctctgtagagctgctctggaTaaggctaccgtgcttctgag	12	10	3	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr10:112650326T>A	ENST00000280154.7	+	8	1162	c.888T>A	c.(886-888)gaT>gaA	p.D296E	PDCD4_ENST00000393104.2_Missense_Mutation_p.D285E|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	296					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGCTCTGGATAAGGCTACCG	0.403																																					Ovarian(115;1498 1603 9363 40056 40885)												0													143	145	144					10																	112650326		2203	4300	6503	SO:0001583	missense	27250			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.888T>A	10.37:g.112650326T>A	ENSP00000280154:p.Asp296Glu		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	p.D296E	ENST00000280154.7	37	c.888	CCDS7567.1	10	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032333	0.35893	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.41758	0.99;0.99	5.34	0.981	0.19756	Armadillo-type fold (1);	0.044847	0.85682	D	0.000000	T	0.32102	0.0818	L	0.50333	1.59	0.51012	D	0.999905	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.08659	-1.0711	10	0.25106	T	0.35	-9.8168	9.0641	0.36453	0.0:0.4392:0.0:0.5608	.	282;296;285	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	E	296;285	ENSP00000280154:D296E;ENSP00000376816:D285E	ENSP00000280154:D296E	D	+	3	2	PDCD4	112640316	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	0.884000	0.28214	-0.107000	0.12088	0.528000	0.53228	GAT	PDCD4	-	superfamily_ARM-type_fold		0.403	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD4	HGNC	protein_coding	OTTHUMT00000050361.1	T	NM_014456		112650326	1	no_errors	ENST00000280154	ensembl	human	known	70_37	missense	SNP	0.999	A	A	112650326	T	A	112650326	3	1	169	1	0	0	0	0	1	0	0	0	11645	1403	49	5	928	5	PDCD4	10	112650326	Missense_Mutation	SNP	T	TCGA-LP-A4AW-01A-11D-A243-09	35655611	112650326	22884421	50	32216										
UBQLNL	143630	genome.wustl.edu	37	chr11	5536549	5536549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tggtatccaagctggctgccGagtggcacagatatggctct	13	10	1	1	rs372374185		TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr11:5536549G>A	ENST00000380184.1	-	1	1386	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	375										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCTGGCTGCCGAGTGGCACAG	0.493																																																	0								G	TRP/ARG	0,4402		0,0,2201	184	182	183		1123	4.2	0.1	11		183	1,8593	1.2+/-3.3	0,1,4296	no	missense	UBQLNL	NM_145053.4	101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	375/476	5536549	1,12995	2201	4297	6498	SO:0001583	missense	143630			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1123C>T	11.37:g.5536549G>A	ENSP00000369531:p.Arg375Trp		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.R375W	ENST00000380184.1	37	c.1123	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	G	6.324	0.427795	0.11987	0.0	1.16E-4	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.49720	0.77	5.15	4.23	0.50019	.	0.184386	0.26349	U	0.024894	T	0.24812	0.0602	N	0.08118	0	0.09310	N	1	D	0.57257	0.979	B	0.37508	0.252	T	0.12041	-1.0563	10	0.72032	D	0.01	-10.2782	11.3664	0.49675	0.0:0.2058:0.7942:0.0	.	375	Q8IYU4	UBQLN_HUMAN	W	375;160	ENSP00000369531:R375W	ENSP00000369531:R375W	R	-	1	2	UBQLNL	5493125	0.722000	0.28017	0.118000	0.21660	0.014000	0.08584	1.178000	0.31981	1.349000	0.45751	0.655000	0.94253	CGG	UBQLNL	-	NULL		0.493	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	G	NM_145053		5536549	-1	no_errors	ENST00000380184	ensembl	human	putative	70_37	missense	SNP	0.014	A	A	5536549	G	A	5536549	3	1	169	1	0	0	0	0	1	0	0	0	16931	1057	37	1	308	1	UBQLNL	11	5536549	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09		5536549	129469967	51	32217										
PAX6	5080	genome.wustl.edu	37	chr11	31816307	31816307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	actgatggagttggtattctCtccccctccttcctgttgct	8	13	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr11:31816307C>G	ENST00000379132.3	-	7	833	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	PAX6_ENST00000379107.2_Missense_Mutation_p.E199Q|PAX6_ENST00000379123.5_Missense_Mutation_p.E185Q|PAX6_ENST00000419022.1_Missense_Mutation_p.E199Q|PAX6_ENST00000379111.2_Missense_Mutation_p.E185Q|PAX6_ENST00000379115.4_Missense_Mutation_p.E199Q|PAX6_ENST00000241001.8_Missense_Mutation_p.E185Q|PAX6_ENST00000379129.2_Missense_Mutation_p.E199Q			P26367	PAX6_HUMAN	paired box 6	185	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TTGGTATTCTCTCCCCCTCCT	0.463									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																								0													106	96	100					11																	31816307		2202	4299	6501	SO:0001583	missense	5080	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.553G>C	11.37:g.31816307C>G	ENSP00000368427:p.Glu185Gln		Q6N006|Q99413	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.E199Q	ENST00000379132.3	37	c.595	CCDS31451.1	11	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372181	0.42003	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000531910;ENST00000471303	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95035	-3.35;-3.34;-3.35;-2.99;-3.35;-3.34;-3.35;-3.34;-3.34;-2.78;-2.78;-3.34;-3.08;-2.79;-3.59	5.76	5.76	0.90799	Homeodomain-like (1);	0.744600	0.13653	N	0.372111	D	0.91811	0.7409	L	0.41492	1.28	0.80722	D	1	P;B	0.45348	0.856;0.411	B;B	0.38562	0.276;0.111	D	0.89742	0.3934	10	0.24483	T	0.36	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	199;185	F1T0F8;P26367	.;PAX6_HUMAN	Q	199;185;199;14;199;185;199;185;185;49;49;185;140;49;49	ENSP00000404100:E199Q;ENSP00000368427:E185Q;ENSP00000368424:E199Q;ENSP00000451885:E14Q;ENSP00000368401:E199Q;ENSP00000241001:E185Q;ENSP00000368410:E199Q;ENSP00000368406:E185Q;ENSP00000368418:E185Q;ENSP00000451901:E49Q;ENSP00000450775:E49Q;ENSP00000368403:E185Q;ENSP00000451372:E140Q;ENSP00000452558:E49Q;ENSP00000435884:E49Q	ENSP00000241001:E185Q	E	-	1	0	PAX6	31772883	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	7.453000	0.80700	2.716000	0.92895	0.655000	0.94253	GAG	PAX6	-	superfamily_Homeodomain-like		0.463	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	HGNC	protein_coding	OTTHUMT00000099293.4	C	NM_001604		31816307	-1	no_errors	ENST00000379107	ensembl	human	known	70_37	missense	SNP	0.999	G	G	31816307	C	G	31816307	3	3	169	1	0	0	0	0	1	0	0	0	11507	922	32	1	739	1	PAX6	11	31816307	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	26279758	31816307	103190209	52	32218										
CPT1A	1374	genome.wustl.edu	37	chr11	68529068	68529068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gtaaaggcagaagaggtgacGatcgatcccagagccggtca	14	9	1	4			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr11:68529068G>A	ENST00000265641.5	-	16	2117	c.1963C>T	c.(1963-1965)Cgt>Tgt	p.R655C	CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000539743.1_Missense_Mutation_p.R655C|CPT1A_ENST00000540367.1_Missense_Mutation_p.R655C|CPT1A_ENST00000376618.2_Missense_Mutation_p.R655C	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	655					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AAGAGGTGACGATCGATCCCA	0.488																																																	0													252	236	241					11																	68529068		2200	4294	6494	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1963C>T	11.37:g.68529068G>A	ENSP00000265641:p.Arg655Cys		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R655C	ENST00000265641.5	37	c.1963	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158091	0.78114	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	5.65	5.65	0.86999	.	0.057824	0.64402	D	0.000001	D	0.97729	0.9255	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98196	1.0465	10	0.66056	D	0.02	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	655;655	P50416;P50416-2	CPT1A_HUMAN;.	C	655	ENSP00000439084:R655C;ENSP00000365803:R655C;ENSP00000265641:R655C;ENSP00000446108:R655C	ENSP00000265641:R655C	R	-	1	0	CPT1A	68285644	1.000000	0.71417	0.996000	0.52242	0.233000	0.25261	9.463000	0.97652	2.824000	0.97209	0.655000	0.94253	CGT	CPT1A	-	pfam_Carn_acyl_trans		0.488	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	G	NM_001876		68529068	-1	no_errors	ENST00000265641	ensembl	human	known	70_37	missense	SNP	1.000	A	A	68529068	G	A	68529068	3	1	169	1	0	0	0	0	1	0	0	0	3836	1058	37	1	414	1	CPT1A	11	68529068	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	36712761	68529068	66477448	53	32219										
ORAOV1	220064	genome.wustl.edu	37	chr11	69486572	69486572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tttccatgcaaaagcaaaacCttggtagcacccgatctgtg	8	11	1	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr11:69486572C>A	ENST00000535657.1	-	3	253	c.172G>T	c.(172-174)Ggt>Tgt	p.G58C	ORAOV1_ENST00000279147.4_Missense_Mutation_p.G58C|ORAOV1_ENST00000536870.1_Intron|ORAOV1_ENST00000539414.1_Missense_Mutation_p.G58C|ORAOV1_ENST00000542341.1_Missense_Mutation_p.G58C			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	58										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			AAAGCAAAACCTTGGTAGCAC	0.408																																																	0													144	128	134					11																	69486572		2200	4294	6494	SO:0001583	missense	220064				CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"oral cancer overexpressed protein 1-A"	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.172G>T	11.37:g.69486572C>A	ENSP00000446129:p.Gly58Cys		B2R4R2|Q8NFK0	Missense_Mutation	SNP	pfam_Essential_protein_Yae1_N	p.G58C	ENST00000535657.1	37	c.172	CCDS8192.1	11	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925851	0.52759	.	.	ENSG00000149716	ENST00000538554;ENST00000376587;ENST00000279147;ENST00000535657;ENST00000539414;ENST00000542341	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.41	5.41	0.78517	Essential protein Yae1, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.91573	0.7338	M	0.89968	3.075	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93106	0.6512	10	0.87932	D	0	-24.8672	16.9615	0.86273	0.0:1.0:0.0:0.0	.	58;58;58	B4DFA5;F5H6T8;Q8WV07	.;.;ORAV1_HUMAN	C	58	ENSP00000446428:G58C;ENSP00000279147:G58C;ENSP00000446129:G58C;ENSP00000444112:G58C;ENSP00000437367:G58C	ENSP00000279147:G58C	G	-	1	0	ORAOV1	69195753	0.998000	0.40836	0.287000	0.24848	0.215000	0.24574	4.964000	0.63701	2.525000	0.85131	0.448000	0.29417	GGT	ORAOV1	-	pfam_Essential_protein_Yae1_N		0.408	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ORAOV1	HGNC	protein_coding	OTTHUMT00000396821.1	C	NM_153451		69486572	-1	no_errors	ENST00000279147	ensembl	human	known	70_37	missense	SNP	0.972	A	A	69486572	C	A	69486572	3	1	169	1	0	0	0	0	1	0	0	0	11284	681	24	4	253	4	ORAOV1	11	69486572	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	957504	69486572	65519944	54	32220										
FAM86C	55199	genome.wustl.edu	37	chr11	71504429	71504429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	actctgtctgcccccagcacGaggctgtccacacagagcct	9	17	2	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr11:71504429G>A	ENST00000359244.4	+	3	186	c.163G>A	c.(163-165)Gag>Aag	p.E55K	FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	55										lung(1)	1						CCCCCAGCACGAGGCTGTCCA	0.532																																																	0																																										SO:0001583	missense	55199			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.163G>A	11.37:g.71504429G>A	ENSP00000352182:p.Glu55Lys		Q8N5D3	Missense_Mutation	SNP	NULL	p.E55K	ENST00000359244.4	37	c.163	CCDS41686.1	11	.	.	.	.	.	.	.	.	.	.	.	13.98	2.398918	0.42512	.	.	ENSG00000158483	ENST00000359244	T	0.25414	1.8	2.05	2.05	0.26809	.	.	.	.	.	T	0.45135	0.1327	M	0.79926	2.475	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	T	0.39663	-0.9603	9	0.46703	T	0.11	.	7.5504	0.27793	0.0:0.0:1.0:0.0	.	55	Q9NVL1	FA86C_HUMAN	K	55	ENSP00000352182:E55K	ENSP00000352182:E55K	E	+	1	0	FAM86C1	71182077	1.000000	0.71417	0.998000	0.56505	0.230000	0.25150	3.193000	0.50997	1.136000	0.42199	0.184000	0.17185	GAG	FAM86C1	-	NULL		0.532	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM86C1	HGNC	protein_coding	OTTHUMT00000361120.1	G	NM_152563		71504429	1	no_errors	ENST00000359244	ensembl	human	known	70_37	missense	SNP	1.000	A	A	71504429	G	A	71504429	3	1	169	1	0	0	0	0	1	0	0	0	5664	1059	37	1	258	1	FAM86C	11	71504429	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	2017857	71504429	63502087	55	32221										
C11orf82	220042	genome.wustl.edu	37	chr11	82644096	82644096	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gagagtgaccattctagtctAaataacaaatatttgaatgg	8	5	2	3			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr11:82644096A>C	ENST00000533655.1	+	6	1928	c.1716A>C	c.(1714-1716)ctA>ctC	p.L572L	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.L572L|C11orf82_ENST00000329143.3_Silent_p.L271L	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		572					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATTCTAGTCTAAATAACAAAT	0.338																																																	0													45	47	46					11																	82644096		2203	4299	6502	SO:0001819	synonymous_variant	220042																														ENST00000533655.1:c.1716A>C	11.37:g.82644096A>C			Q96LK6|Q9H856	Silent	SNP	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like	p.L572	ENST00000533655.1	37	c.1716	CCDS8263.1	11																																																																																			C11orf82	-	NULL		0.338	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf82	HGNC	protein_coding	OTTHUMT00000391936.1	A			82644096	1	no_errors	ENST00000430323	ensembl	human	known	70_37	silent	SNP	0.001	C	C	82644096	A	C	82644096	2	2	169	1	0	0	0	0	0	0	0	1	1669	349	13	5		5	C11orf82	11	82644096	Silent	SNP	A	TCGA-LP-A4AW-01A-11D-A243-09	11139667	82644096	52362420	56	32222										
DLAT	1737	genome.wustl.edu	37	chr11	111896985	111896985	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tagcccgttgggaaaaaaaaGagggggacaaaatcaatgaa	12	5	1	2	rs200147835		TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr11:111896985G>C	ENST00000280346.6	+	2	1002	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	DLAT_ENST00000393051.1_Missense_Mutation_p.E115Q|DLAT_ENST00000537636.1_Missense_Mutation_p.E13Q	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	115	Lipoyl-binding 1. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GGAAAAAAAAGAGGGGGACAA	0.338																																																	0													48	49	48					11																	111896985		2201	4297	6498	SO:0001583	missense	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.343G>C	11.37:g.111896985G>C	ENSP00000280346:p.Glu115Gln		Q16783|Q53EP3	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L	p.E115Q	ENST00000280346.6	37	c.343	CCDS8354.1	11	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729308	0.89390	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.57	4.65	0.58169	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.046163	0.85682	D	0.000000	T	0.80138	0.4568	M	0.92169	3.28	0.25994	N	0.982209	D;D	0.76494	0.998;0.999	D;D	0.72338	0.974;0.977	T	0.74867	-0.3518	10	0.66056	D	0.02	-21.1753	13.8387	0.63426	0.0733:0.0:0.9267:0.0	.	115;115	E9PEJ4;P10515	.;ODP2_HUMAN	Q	115;115;115;74;13	ENSP00000280346:E115Q;ENSP00000376771:E115Q;ENSP00000433432:E74Q;ENSP00000442427:E13Q	ENSP00000280346:E115Q	E	+	1	0	DLAT	111402195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.091000	0.76923	2.614000	0.88457	0.591000	0.81541	GAG	DLAT	-	pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl		0.338	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	HGNC	protein_coding	OTTHUMT00000258167.1	G	NM_001931		111896985	1	no_errors	ENST00000280346	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111896985	G	C	111896985	3	2	169	1	0	0	0	0	1	0	0	0	4559	943	33	1	349	1	DLAT	11	111896985	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	29252889	111896985	23109531	57	32223										
OPCML	4978	genome.wustl.edu	37	chr11	132812831	132812831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	agctccctacctgagggtggCgctctccccctgccggaccg	12	18	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr11:132812831C>T	ENST00000331898.7	-	1	735	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	OPCML_ENST00000529038.1_Intron|OPCML_ENST00000524381.1_Missense_Mutation_p.A46T|OPCML_ENST00000374778.4_Missense_Mutation_p.A12T|OPCML_ENST00000541867.1_Missense_Mutation_p.A53T	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	53	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CTGAGGGTGGCGCTCTCCCCC	0.677																																																	0													66	66	66					11																	132812831		2201	4297	6498	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.157G>A	11.37:g.132812831C>T	ENSP00000330862:p.Ala53Thr		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A53T	ENST00000331898.7	37	c.157	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.358707	0.95854	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.162483	0.41396	D	0.000888	T	0.44705	0.1306	M	0.73962	2.25	0.58432	D	0.999998	P;P;P;P	0.46784	0.782;0.884;0.884;0.884	B;P;P;P	0.45195	0.393;0.473;0.473;0.473	T	0.47289	-0.9129	10	0.62326	D	0.03	-16.5216	19.8557	0.96758	0.0:1.0:0.0:0.0	.	53;46;53;53	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	T	53;46;12;46;53	ENSP00000330862:A53T;ENSP00000434750:A46T;ENSP00000363910:A12T;ENSP00000445496:A53T	ENSP00000330862:A53T	A	-	1	0	OPCML	132318041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.707000	0.92482	0.655000	0.94253	GCC	OPCML	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.677	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	C	NM_001012393		132812831	-1	no_errors	ENST00000541867	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132812831	C	T	132812831	3	4	169	1	0	0	0	0	1	0	0	0	10898	768	27	2	908	2	OPCML	11	132812831	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	20915846	132812831	2193685	58	32224										
NCAPD3	23310	genome.wustl.edu	37	chr11	134063985	134063985	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gtcccgacactggtcctgcaGaatccacaggtcttccttca	8	15	2	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr11:134063985G>A	ENST00000534548.2	-	15	1814	c.1750C>T	c.(1750-1752)Ctg>Ttg	p.L584L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	584					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGGTCCTGCAGAATCCACAGG	0.473																																																	0													100	88	92					11																	134063985		2201	4297	6498	SO:0001819	synonymous_variant	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1750C>T	11.37:g.134063985G>A			A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.L584	ENST00000534548.2	37	c.1750	CCDS31723.1	11																																																																																			NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3		0.473	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	G	NM_015261		134063985	-1	no_errors	ENST00000534548	ensembl	human	known	70_37	silent	SNP	0.998	A	A	134063985	G	A	134063985	2	1	169	1	0	0	0	0	0	0	0	1	10230	933	33	1		1	NCAPD3	11	134063985	Silent	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	1251154	134063985	942531	59	32225										
CACNA1C	775	genome.wustl.edu	37	chr12	2690795	2690795	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	aacctggtggcatccttgctGaactctgtgcgctccatcgc	10	14	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr12:2690795G>A	ENST00000347598.4	+	14	1935	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	CACNA1C_ENST00000327702.7_Silent_p.L645L|CACNA1C_ENST00000480911.1_Silent_p.L645L|CACNA1C_ENST00000399603.1_Silent_p.L645L|CACNA1C_ENST00000399649.1_Silent_p.L645L|CACNA1C_ENST00000399634.1_Silent_p.L645L|CACNA1C_ENST00000399644.1_Silent_p.L645L|CACNA1C_ENST00000399637.1_Silent_p.L645L|CACNA1C_ENST00000399595.1_Silent_p.L645L|CACNA1C_ENST00000399606.1_Silent_p.L645L|CACNA1C_ENST00000399638.1_Silent_p.L645L|CACNA1C_ENST00000344100.3_Silent_p.L645L|CACNA1C_ENST00000335762.5_Silent_p.L670L|CACNA1C_ENST00000406454.3_Silent_p.L645L|CACNA1C_ENST00000399591.1_Silent_p.L645L|CACNA1C_ENST00000399655.1_Silent_p.L645L|CACNA1C_ENST00000399629.1_Silent_p.L645L|CACNA1C_ENST00000399601.1_Silent_p.L645L|CACNA1C_ENST00000402845.3_Silent_p.L645L|CACNA1C_ENST00000399597.1_Silent_p.L645L|CACNA1C_ENST00000399621.1_Silent_p.L645L|CACNA1C_ENST00000399617.1_Silent_p.L645L|CACNA1C_ENST00000399641.1_Silent_p.L645L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	645					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCCTTGCTGAACTCTGTGC	0.567																																																	0													108	112	111					12																	2690795		2202	4296	6498	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1935G>A	12.37:g.2690795G>A			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L645	ENST00000347598.4	37	c.1935	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2690795	1	no_errors	ENST00000399634	ensembl	human	known	70_37	silent	SNP	1.000	A	A	2690795	G	A	2690795	2	1	169	1	0	0	0	0	0	0	0	1	2545	1277	45	1		1	CACNA1C	12	2690795	Silent	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09		2690795	131161100	60	32226										
ACRBP	84519	genome.wustl.edu	37	chr12	6754443	6754443	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gggtgagacttcagctgaagCttctatctccttgagagtgt	12	8	3	3			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr12:6754443C>G	ENST00000229243.2	-	4	511	c.418G>C	c.(418-420)Gct>Cct	p.A140P	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000414226.2_Missense_Mutation_p.A140P|ACRBP_ENST00000536350.1_Missense_Mutation_p.A140P	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TCAGCTGAAGCTTCTATCTCC	0.537																																																	0													157	153	154					12																	6754443		2203	4300	6503	SO:0001583	missense	84519			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"proacrosin binding protein sp32", "cancer/testis antigen 23"	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.418G>C	12.37:g.6754443C>G	ENSP00000229243:p.Ala140Pro			Missense_Mutation	SNP	pfam_Proacrosin-bd	p.A140P	ENST00000229243.2	37	c.418	CCDS8554.1	12	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397548	0.25205	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350;ENST00000546114	T;T	0.47869	0.89;0.83	4.14	-8.28	0.01013	.	1.096420	0.07004	N	0.823883	T	0.27419	0.0673	N	0.14661	0.345	0.09310	N	1	B;B	0.30236	0.144;0.274	B;B	0.35931	0.114;0.214	T	0.47837	-0.9086	10	0.72032	D	0.01	-0.0223	6.1419	0.20265	0.1878:0.367:0.0:0.4452	.	140;140	E7EP66;Q8NEB7	.;ACRBP_HUMAN	P	140	ENSP00000229243:A140P;ENSP00000402725:A140P	ENSP00000229243:A140P	A	-	1	0	ACRBP	6624704	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-1.790000	0.01759	-2.061000	0.00892	-0.254000	0.11334	GCT	ACRBP	-	pfam_Proacrosin-bd		0.537	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	HGNC	protein_coding	OTTHUMT00000400703.1	C	NM_032489		6754443	-1	no_errors	ENST00000229243	ensembl	human	known	70_37	missense	SNP	0.000	G	G	6754443	C	G	6754443	3	3	169	1	0	0	0	0	1	0	0	0	170	797	28	4	1241	4	ACRBP	12	6754443	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	4063648	6754443	127097452	61	32227										
ART4	420	genome.wustl.edu	37	chr12	14993782	14993782	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ttgaagtggaatgaacgttcAtactgctgtggagtcctggc	13	7	1	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr12:14993782A>T	ENST00000228936.4	-	2	831	c.450T>A	c.(448-450)taT>taA	p.Y150*	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	150					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						ATGAACGTTCATACTGCTGTG	0.448																																																	0													137	134	135					12																	14993782		2203	4300	6503	SO:0001587	stop_gained	420			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.450T>A	12.37:g.14993782A>T	ENSP00000228936:p.Tyr150*		Q9BZ50|Q9BZ51|Q9HB06	Nonsense_Mutation	SNP	pfam_ART,prints_ART	p.Y150*	ENST00000228936.4	37	c.450	CCDS8668.1	12	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071530	0.36566	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	.	.	.	4.35	-0.833	0.10782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6094	8.6506	0.34033	0.5546:0.0:0.4454:0.0	.	.	.	.	X	150;133	.	ENSP00000228936:Y150X	Y	-	3	2	ART4	14885049	0.339000	0.24784	0.068000	0.19968	0.412000	0.31113	0.658000	0.24979	-0.125000	0.11703	-0.400000	0.06385	TAT	ART4	-	pfam_ART		0.448	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART4	HGNC	protein_coding	OTTHUMT00000400859.1	A	NM_021071		14993782	-1	no_errors	ENST00000228936	ensembl	human	known	70_37	nonsense	SNP	0.095	T	T	14993782	A	T	14993782	4	4	169	1	0	0	0	0	0	1	0	0	1000	224	8	5	502	5	ART4	12	14993782	Nonsense_Mutation	SNP	A	TCGA-LP-A4AW-01A-11D-A243-09	8239339	14993782	118858113	62	32228										
ACTR6	64431	genome.wustl.edu	37	chr12	100598771	100598771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	agcacgtcttaaaacttttaCtgccaaccagatagatgaaa	6	9	1	3			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr12:100598771C>A	ENST00000188312.2	+	2	887	c.122C>A	c.(121-123)aCt>aAt	p.T41N	ACTR6_ENST00000551617.1_5'UTR|ACTR6_ENST00000546902.1_5'UTR|ACTR6_ENST00000552376.1_Missense_Mutation_p.T41N|ACTR6_ENST00000550813.1_3'UTR	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	41						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AAAACTTTTACTGCCAACCAG	0.333																																																	0													87	90	89					12																	100598771		2203	4300	6503	SO:0001583	missense	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.122C>A	12.37:g.100598771C>A	ENSP00000188312:p.Thr41Asn		B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.T41N	ENST00000188312.2	37	c.122	CCDS9074.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.104319	0.94245	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000552376	D;D;D	0.94457	-3.43;-3.43;-3.43	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	L	0.42245	1.32	0.80722	D	1	D;D;D	0.58620	0.983;0.97;0.976	P;P;P	0.59115	0.852;0.559;0.686	D	0.95734	0.8777	10	0.87932	D	0	.	19.3813	0.94536	0.0:1.0:0.0:0.0	.	41;41;41	B4DLG9;F8W057;Q9GZN1	.;.;ARP6_HUMAN	N	53;41;41	ENSP00000448508:T53N;ENSP00000188312:T41N;ENSP00000447237:T41N	ENSP00000188312:T41N	T	+	2	0	ACTR6	99122902	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.565000	0.82337	2.798000	0.96311	0.655000	0.94253	ACT	ACTR6	-	pfam_Actin-like,smart_Actin-like		0.333	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	C	NM_022496		100598771	1	no_errors	ENST00000188312	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100598771	C	A	100598771	3	1	169	1	0	0	0	0	1	0	0	0	216	565	20	4	128	4	ACTR6	12	100598771	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	85604989	100598771	33253124	63	32229										
TMEM132D	121256	genome.wustl.edu	37	chr12	129558618	129558618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tttgaggtaggggatgttggGggctcacttttctgatcttt	14	5	3	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr12:129558618G>A	ENST00000422113.2	-	9	3428	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P	TMEM132D_ENST00000389441.4_Silent_p.P572P	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1034					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGATGTTGGGGGCTCACTTT	0.478																																																	0													104	108	107					12																	129558618		2203	4300	6503	SO:0001819	synonymous_variant	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3102C>T	12.37:g.129558618G>A			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.P1034	ENST00000422113.2	37	c.3102	CCDS9266.1	12																																																																																			TMEM132D	-	NULL		0.478	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	G	NM_133448		129558618	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	silent	SNP	0.925	A	A	129558618	G	A	129558618	2	1	169	1	0	0	0	0	0	0	0	1	16077	1219	43	4		4	TMEM132D	12	129558618	Silent	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	28959847	129558618	4293277	64	32230										
BRCA2	90634	genome.wustl.edu	37	chr13	32972342	32972342	+	IGR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	atattatcaaagtcctttatCactttgtatggccaaaagga	6	7	2	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr13:32972342C>A	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Nonsense_Mutation_p.S3231*|BRCA2_ENST00000544455.1_Nonsense_Mutation_p.S3231*	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AGTCCTTTATCACTTTGTATG	0.343																																																	0													108	117	114					13																	32972342		2203	4300	6503	SO:0001628	intergenic_variant	675			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972342C>A			A4QN21|Q5TBK0	Nonsense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat	p.S3231*	ENST00000380130.2	37	c.9692	CCDS9345.2	13	.	.	.	.	.	.	.	.	.	.	C	49	15.119792	0.99823	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	4.21	3.36	0.38483	.	1.027250	0.07723	N	0.943961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0414	0.47833	0.0:0.9116:0.0:0.0884	.	.	.	.	X	3231	.	ENSP00000369497:S3231X	S	+	2	0	BRCA2	31870342	0.356000	0.24930	0.212000	0.23672	0.014000	0.08584	2.110000	0.41873	1.346000	0.45694	0.591000	0.81541	TCA	BRCA2	-	pirsf_BRCA2		0.343	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding		C	NM_052818		32972342	1	no_errors	ENST00000380152	ensembl	human	known	70_37	nonsense	SNP	0.338	A	A	32972342	C	A	32972342	1	1	169	0	1	0	0	0	0	0	0	0	1502	838	29	3		3	BRCA2	13	32972342	IGR	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		32972342	82197536	65	32231										
GAS6	2621	genome.wustl.edu	37	chr13	114550997	114550997	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tagagaagtaattgagacttAcctaagtatcttgggtaaaa	9	4	1	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr13:114550997A>T	ENST00000327773.6	-	3	427		c.e3+1		GAS6_ENST00000357389.3_Splice_Site|GAS6_ENST00000476291.1_Splice_Site|GAS6_ENST00000355761.4_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6						activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ATTGAGACTTACCTAAGTATC	0.438																																																	0													120	125	124					13																	114550997		2203	4300	6503	SO:0001630	splice_region_variant	2621				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.280+1T>A	13.37:g.114550997A>T			B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Splice_Site	SNP	-	e3+2	ENST00000327773.6	37	c.280+2	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	A	8.826	0.938771	0.18206	.	.	ENSG00000183087	ENST00000357389;ENST00000327773	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8959	0.41318	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAS6	113562946	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	3.395000	0.52558	1.758000	0.51981	0.459000	0.35465	.	GAS6	-	-		0.438	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	A	NM_000820	Intron	114550997	-1	no_errors	ENST00000357389	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	114550997	A	T	114550997	5	4	169	1	0	0	0	0	0	0	1	0	6268	405	14	5	1806	5	GAS6	13	114550997	Splice_Site	SNP	A	TCGA-LP-A4AW-01A-11D-A243-09	81578655	114550997	618881	66	32232										
OXA1L	5018	genome.wustl.edu	37	chr14	23235786	23235786	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	aaatatggccgccaagctccGttctcttttaccgcctgatc	7	14	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr14:23235786G>C	ENST00000285848.5	+	1	56	c.56G>C	c.(55-57)cGt>cCt	p.R19P	CTD-2555K7.2_ENST00000554857.1_RNA|OXA1L_ENST00000412791.1_5'Flank|OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000554730.1_RNA|CTD-2555K7.2_ENST00000553792.1_RNA|OXA1L_ENST00000604262.1_5'Flank	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		GCCAAGCTCCGTTCTCTTTTA	0.502																																																	0													117	122	120					14																	23235786		2203	4300	6503	SO:0001583	missense	5018				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.56G>C	14.37:g.23235786G>C	ENSP00000285848:p.Arg19Pro		B4DPA2	Missense_Mutation	SNP	pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membrane_insert_OXA1/ALB3/YidC	p.R19P	ENST00000285848.5	37	c.56	CCDS9573.1	14	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779834	0.31502	.	.	ENSG00000155463	ENST00000285848	T	0.34275	1.37	4.93	-2.05	0.07321	.	.	.	.	.	T	0.16214	0.0390	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.21655	-1.0239	9	0.87932	D	0	1.1713	4.6691	0.12680	0.3796:0.3109:0.3095:0.0	.	19	Q2M1J6	.	P	19	ENSP00000285848:R19P	ENSP00000285848:R19P	R	+	2	0	OXA1L	22305626	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.163000	0.16520	-0.224000	0.09928	-0.302000	0.09304	CGT	OXA1L	-	NULL		0.502	OXA1L-001	KNOWN	basic|CCDS	protein_coding	OXA1L	HGNC	protein_coding	OTTHUMT00000071630.2	G	NM_005015		23235786	1	no_errors	ENST00000285848	ensembl	human	known	70_37	missense	SNP	0.000	C	C	23235786	G	C	23235786	3	2	169	1	0	0	0	0	1	0	0	0	11352	1145	40	2	58	2	OXA1L	14	23235786	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09		23235786	84113754	67	32233										
SPTB	6710	genome.wustl.edu	37	chr14	65253258	65253258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cagtatccaggccctccagcCgctggcccagaagcagatac	10	16	0	2	rs141173028		TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr14:65253258C>T	ENST00000389721.5	-	15	3457	c.3425G>A	c.(3424-3426)cGg>cAg	p.R1142Q	SPTB_ENST00000556626.1_Missense_Mutation_p.R1142Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1142Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1142Q|SPTB_ENST00000389722.3_Missense_Mutation_p.R1142Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1142					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCTCCAGCCGCTGGCCCAG	0.602													C|||	1	0.000199681	0	0	5008	,	,		18967	0		0.001	False		,,,				2504	0																0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	57	55	56		3425,3425	4.9	1	14	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1142/2138,1142/2329	65253258	1,13005	2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3425G>A	14.37:g.65253258C>T	ENSP00000374371:p.Arg1142Gln		Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1142Q	ENST00000389721.5	37	c.3425	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618557	0.87460	0.0	1.16E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.986	T	0.74194	-0.3744	10	0.54805	T	0.06	.	17.1796	0.86851	0.0:1.0:0.0:0.0	.	1142;1146	P11277;Q59FP5	SPTB1_HUMAN;.	Q	1146;1142;1142;1142;1142;1142	ENSP00000374372:R1142Q;ENSP00000451752:R1142Q;ENSP00000374371:R1142Q;ENSP00000443882:R1142Q;ENSP00000374370:R1142Q	ENSP00000374370:R1142Q	R	-	2	0	SPTB	64323011	1.000000	0.71417	0.997000	0.53966	0.654000	0.38779	7.811000	0.86092	2.430000	0.82344	0.549000	0.68633	CGG	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	C			65253258	-1	no_errors	ENST00000389722	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65253258	C	T	65253258	3	4	169	1	0	0	0	0	1	0	0	0	15148	652	23	2	3714	2	SPTB	14	65253258	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	42017472	65253258	42096282	68	32234										
FAM181A	90050	genome.wustl.edu	37	chr14	94394853	94394853	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ctgaaaagggggtctgaggaCcggcccaggaggctgctcct	16	11	1	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr14:94394853C>A	ENST00000267594.5	+	3	715	c.408C>A	c.(406-408)gaC>gaA	p.D136E	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557719.1_Missense_Mutation_p.D74E|FAM181A_ENST00000557000.2_Missense_Mutation_p.D74E|FAM181A_ENST00000556222.1_Missense_Mutation_p.D74E	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	136										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GGTCTGAGGACCGGCCCAGGA	0.647																																																	0													20	23	22					14																	94394853		2200	4298	6498	SO:0001583	missense	90050			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.408C>A	14.37:g.94394853C>A	ENSP00000267594:p.Asp136Glu		B2RD39|Q96GY1	Missense_Mutation	SNP	NULL	p.D136E	ENST00000267594.5	37	c.408	CCDS9914.1	14	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039574	0.19669	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.21	0.999	0.19862	.	0.000000	0.37530	N	0.002049	T	0.12860	0.0312	N	0.21448	0.665	0.26105	N	0.980761	B	0.13594	0.008	B	0.16289	0.015	T	0.24977	-1.0145	10	0.06365	T	0.9	-12.2162	2.913	0.05743	0.1407:0.5287:0.1468:0.1838	.	136	Q8N9Y4	F181A_HUMAN	E	74;136;74;74;125	ENSP00000451802:D74E;ENSP00000267594:D136E;ENSP00000451678:D74E;ENSP00000452393:D74E	ENSP00000267594:D136E	D	+	3	2	FAM181A	93464606	0.428000	0.25522	0.878000	0.34440	0.765000	0.43378	0.743000	0.26231	0.404000	0.25506	0.561000	0.74099	GAC	FAM181A	-	NULL		0.647	FAM181A-001	KNOWN	basic|CCDS	protein_coding	FAM181A	HGNC	protein_coding	OTTHUMT00000412840.1	C	NM_138344		94394853	1	no_errors	ENST00000267594	ensembl	human	known	70_37	missense	SNP	0.647	A	A	94394853	C	A	94394853	3	1	169	1	0	0	0	0	1	0	0	0	5523	506	18	4	414	4	FAM181A	14	94394853	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	29141595	94394853	12954687	69	32235										
AHNAK2	113146	genome.wustl.edu	37	chr14	105408592	105408592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ggacattaacgtctatctggGgacccttgaggtccactttg	11	10	2	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr14:105408592G>A	ENST00000333244.5	-	7	13315	c.13196C>T	c.(13195-13197)cCc>cTc	p.P4399L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4399						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCTATCTGGGGACCCTTGAG	0.612																																																	0													85	91	89					14																	105408592		1922	4121	6043	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13196C>T	14.37:g.105408592G>A	ENSP00000353114:p.Pro4399Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P4399L	ENST00000333244.5	37	c.13196	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190633	0.38707	.	.	ENSG00000185567	ENST00000333244	T	0.03212	4.01	3.09	3.09	0.35607	.	0.522324	0.12970	U	0.424205	T	0.23572	0.0570	M	0.89601	3.045	0.41548	D	0.988559	D	0.89917	1.0	D	0.87578	0.998	T	0.14364	-1.0475	10	0.66056	D	0.02	.	14.6623	0.68882	0.0:0.0:1.0:0.0	.	4399	Q8IVF2	AHNK2_HUMAN	L	4399	ENSP00000353114:P4399L	ENSP00000353114:P4399L	P	-	2	0	AHNAK2	104479637	0.988000	0.35896	0.033000	0.17914	0.021000	0.10359	3.836000	0.55813	1.474000	0.48178	0.290000	0.19541	CCC	AHNAK2	-	NULL		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	G	NM_138420		105408592	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.756	A	A	105408592	G	A	105408592	3	1	169	1	0	0	0	0	1	0	0	0	415	1232	43	4	4195	4	AHNAK2	14	105408592	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	11013739	105408592	1940948	70	32236										
C15orf2	23742	genome.wustl.edu	37	chr15	24922666	24922666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cagcaagcctatgaattccaCgtcagtcatttccactgtca	6	13	3	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr15:24922666C>T	ENST00000329468.2	+	1	2126	c.1652C>T	c.(1651-1653)aCg>aTg	p.T551M		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	551					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ATGAATTCCACGTCAGTCATT	0.498																																																	0													175	164	168					15																	24922666		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1652C>T	15.37:g.24922666C>T	ENSP00000333735:p.Thr551Met			Missense_Mutation	SNP	NULL	p.T551M	ENST00000329468.2	37	c.1652	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	11.57	1.678665	0.29783	.	.	ENSG00000185823	ENST00000329468	T	0.05139	3.49	1.82	-2.61	0.06171	.	2.223100	0.02278	N	0.069132	T	0.06096	0.0158	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	P	0.47251	0.542	T	0.15263	-1.0443	10	0.72032	D	0.01	.	2.3149	0.04196	0.4651:0.2949:0.0:0.24	.	551	Q9NZP6	CO002_HUMAN	M	551	ENSP00000333735:T551M	ENSP00000333735:T551M	T	+	2	0	C15orf2	22473759	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-1.144000	0.03197	-0.741000	0.04797	0.205000	0.17691	ACG	NPAP1	-	NULL		0.498	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24922666	1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	T	T	24922666	C	T	24922666	3	4	169	1	0	0	0	0	1	0	0	0	1788	536	19	2	1654	2	C15orf2	15	24922666	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		24922666	77608726	71	32237										
TRPM1	4308	genome.wustl.edu	37	chr15	31341662	31341662	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	atcaggagcttcacaaagtcGacacgatctaagactaaagc	8	10	3	1	rs373134893		TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr15:31341662G>A	ENST00000256552.6	-	13	1635	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	TRPM1_ENST00000397795.2_Silent_p.V474V|TRPM1_ENST00000542188.1_Silent_p.V513V	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.V474V(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCACAAAGTCGACACGATCTA	0.502																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		2,3920		0,2,1959	124	118	120		1422	-10.3	0.2	15		120	0,8326		0,0,4163	no	coding-synonymous	TRPM1	NM_002420.4		0,2,6122	AA,AG,GG		0.0,0.051,0.0163		474/1604	31341662	2,12246	1961	4163	6124	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1488C>T	15.37:g.31341662G>A				Silent	SNP	pfam_Ion_trans_dom	p.V513	ENST00000256552.6	37	c.1539	CCDS58346.1	15																																																																																			TRPM1	-	NULL		0.502	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31341662	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	silent	SNP	0.930	A	A	31341662	G	A	31341662	2	1	169	1	0	0	0	0	0	0	0	1	16616	1045	37	1		1	TRPM1	15	31341662	Silent	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	6418996	31341662	71189730	72	32238										
LEO1	123169	genome.wustl.edu	37	chr15	52251016	52251016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	atcttcataatactgaggatCaaaaggtctacaaattgttt	6	6	4	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr15:52251016C>G	ENST00000299601.5	-	6	1228	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	390					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)		p.D390N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TACTGAGGATCAAAAGGTCTA	0.269																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												1	Substitution - Missense(1)	endometrium(1)											73	72	72					15																	52251016		2194	4288	6482	SO:0001583	missense	123169			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1168G>C	15.37:g.52251016C>G	ENSP00000299601:p.Asp390His		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.D390H	ENST00000299601.5	37	c.1168	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502551	0.85176	.	.	ENSG00000166477	ENST00000299601;ENST00000538386	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	L	0.60067	1.865	0.80722	D	1	D	0.71674	0.998	D	0.63283	0.913	T	0.75637	-0.3249	9	0.52906	T	0.07	.	19.1407	0.93445	0.0:1.0:0.0:0.0	.	390	Q8WVC0	LEO1_HUMAN	H	390;368	.	ENSP00000299601:D390H	D	-	1	0	LEO1	50038308	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.613000	0.82986	2.619000	0.88677	0.557000	0.71058	GAT	LEO1	-	pfam_Leo1		0.269	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	C	NM_138792		52251016	-1	no_errors	ENST00000299601	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52251016	C	G	52251016	3	3	169	1	0	0	0	0	1	0	0	0	8746	826	29	1	860	1	LEO1	15	52251016	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	20909354	52251016	50280376	73	32239										
NR2E3	10002	genome.wustl.edu	37	chr15	72106369	72106369	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ccagagacgcggggcctgaaGgatcctgagcacgtagaggc	16	11	0	4			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr15:72106369G>A	ENST00000398840.2	+	0	1201							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						GGGGCCTGAAGGATCCTGAGC	0.617																																																	0													35	42	39					15																	72106369		2106	4228	6334			10002				CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72106369G>A			B6ZGU0|Q9UHM4	RNA	SNP	-	NULL	ENST00000398840.2	37	NULL		15																																																																																			NR2E3	-	-		0.617	NR2E3-202	KNOWN	basic	processed_transcript	NR2E3	HGNC	processed_transcript		G	NM_014249		72106369	1	no_errors	ENST00000326995	ensembl	human	known	70_37	rna	SNP	1.000	A	A	72106369	G	A	72106369	1	1	169	0	1	0	0	0	0	0	0	0	10650	991	35	4		4	NR2E3	15	72106369	RNA	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	19855353	72106369	30425023	74	32240										
PRSS53	339105	genome.wustl.edu	37	chr16	31100087	31100087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gcttaccctccatgaggactGtggcacccgcgatgagcagc	12	14	0	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr16:31100087G>T	ENST00000280606.6	-	1	197	c.44C>A	c.(43-45)aCa>aAa	p.T15K	RP11-196G11.1_ENST00000529564.1_Intron	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	15						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CATGAGGACTGTGGCACCCGC	0.662																																																	0													44	54	51					16																	31100087		2075	4202	6277	SO:0001583	missense	339105				CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.44C>A	16.37:g.31100087G>T	ENSP00000280606:p.Thr15Lys			Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T15K	ENST00000280606.6	37	c.44	CCDS42153.1	16	.	.	.	.	.	.	.	.	.	.	G	7.138	0.581194	0.13686	.	.	ENSG00000151006	ENST00000280606	D	0.81659	-1.52	5.55	4.4	0.53042	Peptidase S1/S6, chymotrypsin/Hap (1);	1.101070	0.07346	U	0.881638	T	0.60843	0.2300	N	0.08118	0	0.22601	N	0.998948	B	0.02656	0.0	B	0.01281	0.0	T	0.47249	-0.9132	10	0.06099	T	0.92	.	8.1901	0.31363	0.9078:0.0:0.0922:0.0	.	15	Q2L4Q9	PRS53_HUMAN	K	15	ENSP00000280606:T15K	ENSP00000280606:T15K	T	-	2	0	PRSS53	31007588	0.138000	0.22547	0.817000	0.32601	0.003000	0.03518	0.608000	0.24223	0.937000	0.37394	-0.459000	0.05422	ACA	PRSS53	-	pfscan_Peptidase_S1_S6		0.662	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS53	HGNC	protein_coding	OTTHUMT00000108580.4	G	NM_001081268		31100087	-1	no_errors	ENST00000280606	ensembl	human	known	70_37	missense	SNP	0.840	T	T	31100087	G	T	31100087	3	4	169	1	0	0	0	0	1	0	0	0	12659	1377	48	4	1661	4	PRSS53	16	31100087	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09		31100087	59254666	75	32241										
ZFHX3	463	genome.wustl.edu	37	chr16	72832329	72832329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cacatggtactgagaatggaGctgcaacttttcaatggtct	10	8	2	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr16:72832329G>A	ENST00000268489.5	-	9	4924	c.4252C>T	c.(4252-4254)Ctc>Ttc	p.L1418F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L504F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1418					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGAGAATGGAGCTGCAACTTT	0.517																																																	0													169	152	158					16																	72832329		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4252C>T	16.37:g.72832329G>A	ENSP00000268489:p.Leu1418Phe		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L1418F	ENST00000268489.5	37	c.4252	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667264	0.47677	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.29655	1.56;1.56	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.45126	D	0.000390	T	0.55986	0.1955	M	0.70903	2.155	0.58432	D	0.999999	D	0.61080	0.989	D	0.63957	0.92	T	0.50734	-0.8793	10	0.48119	T	0.1	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	1418	Q15911	ZFHX3_HUMAN	F	1418;504	ENSP00000268489:L1418F;ENSP00000438926:L504F	ENSP00000268489:L1418F	L	-	1	0	ZFHX3	71389830	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.581000	0.67471	2.826000	0.97356	0.561000	0.74099	CTC	ZFHX3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72832329	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72832329	G	A	72832329	3	1	169	1	0	0	0	0	1	0	0	0	17664	971	34	4	6867	4	ZFHX3	16	72832329	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	41732242	72832329	17522424	76	32242										
ITGB4	3691	genome.wustl.edu	37	chr17	73745051	73745051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gccaggtccgccgtttccacGtccagctcagcaaccctaag	9	17	1	0	rs201802102		TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr17:73745051G>A	ENST00000200181.3	+	27	3428	c.3241G>A	c.(3241-3243)Gtc>Atc	p.V1081I	ITGB4_ENST00000339591.3_Missense_Mutation_p.V1081I|ITGB4_ENST00000579662.1_Missense_Mutation_p.V1081I|ITGB4_ENST00000449880.2_Missense_Mutation_p.V1081I|ITGB4_ENST00000450894.3_Missense_Mutation_p.V1081I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1081	Calx-beta.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGTTTCCACGTCCAGCTCAG	0.647																																																	0								G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	32	36	35		3241,3241,3241	-2.6	0.4	17		35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ITGB4	NM_000213.3,NM_001005619.1,NM_001005731.1	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	1081/1823,1081/1806,1081/1753	73745051	1,13005	2203	4300	6503	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3241G>A	17.37:g.73745051G>A	ENSP00000200181:p.Val1081Ile		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.V1081I	ENST00000200181.3	37	c.3241	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	6.712	0.500154	0.12762	0.0	1.16E-4	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.34275	1.37;1.37;1.37	5.45	-2.62	0.06152	Na-Ca exchanger/integrin-beta4 (2);	0.323139	0.31909	N	0.006874	T	0.10594	0.0259	N	0.03071	-0.42	0.22811	N	0.99871	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.003;0.004;0.004	T	0.33214	-0.9877	10	0.08599	T	0.76	.	7.4105	0.27016	0.3558:0.2242:0.42:0.0	.	1081;1081;1081	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	I	1081	ENSP00000200181:V1081I;ENSP00000344079:V1081I;ENSP00000400217:V1081I	ENSP00000200181:V1081I	V	+	1	0	ITGB4	71256646	0.000000	0.05858	0.355000	0.25773	0.070000	0.16714	-0.670000	0.05256	-0.453000	0.07076	-0.781000	0.03364	GTC	ITGB4	-	pfam_Calx_beta,smart_Calx_beta,pirsf_Integrin_bsu-4		0.647	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	G			73745051	1	no_errors	ENST00000200181	ensembl	human	known	70_37	missense	SNP	0.449	A	A	73745051	G	A	73745051	3	1	169	1	0	0	0	0	1	0	0	0	7917	1145	40	2	3343	2	ITGB4	17	73745051	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09		73745051	7450159	77	32243										
ARL16	339231	genome.wustl.edu	37	chr17	79650079	79650079	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tttccatagtaactggaccaGatggggcccatgcacccccc	9	15	0	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr17:79650079G>C	ENST00000397498.4	-	3	368	c.270C>G	c.(268-270)atC>atG	p.I90M	ARL16_ENST00000576135.1_Missense_Mutation_p.I4M|HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000573392.1_Intron|ARL16_ENST00000574938.1_Intron|ARL16_ENST00000570561.1_Missense_Mutation_p.I4M	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	90					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AACTGGACCAGATGGGGCCCA	0.507																																																	0													143	154	151					17																	79650079		1919	4118	6037	SO:0001583	missense	339231				CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.270C>G	17.37:g.79650079G>C	ENSP00000380635:p.Ile90Met			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1	p.I90M	ENST00000397498.4	37	c.270	CCDS45813.1	17	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340607	0.60963	.	.	ENSG00000214087	ENST00000397498	T	0.63744	-0.06	4.91	2.92	0.33932	.	0.000000	0.85682	U	0.000000	T	0.67813	0.2933	L	0.40543	1.245	0.42947	D	0.994362	D	0.89917	1.0	D	0.83275	0.996	T	0.67201	-0.5730	10	0.87932	D	0	-13.5632	8.186	0.31339	0.188:0.0:0.812:0.0	.	90	Q0P5N6	ARL16_HUMAN	M	90	ENSP00000380635:I90M	ENSP00000380635:I90M	I	-	3	3	ARL16	77260484	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.759000	0.55227	0.477000	0.27464	0.563000	0.77884	ATC	ARL16	-	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1		0.507	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ARL16	HGNC	protein_coding	OTTHUMT00000440514.1	G	XM_290777		79650079	-1	no_errors	ENST00000397498	ensembl	human	known	70_37	missense	SNP	1.000	C	C	79650079	G	C	79650079	3	2	169	1	0	0	0	0	1	0	0	0	932	932	33	1	335	1	ARL16	17	79650079	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	5905028	79650079	1545131	78	32244										
C18orf10	25941	genome.wustl.edu	37	chr18	34387880	34387880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	aagttcttcacatcttcaggCatcacacagttattcttcta	4	11	7	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr18:34387880C>T	ENST00000334295.4	-	3	610	c.183G>A	c.(181-183)atG>atA	p.M61I	TPGS2_ENST00000587129.1_Missense_Mutation_p.M61I|TPGS2_ENST00000593035.1_Missense_Mutation_p.M61I|TPGS2_ENST00000383056.3_Missense_Mutation_p.M61I|TPGS2_ENST00000589049.1_Missense_Mutation_p.M61I|TPGS2_ENST00000590842.1_Missense_Mutation_p.M61I	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	61						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CATCTTCAGGCATCACACAGT	0.468																																																	0													194	159	171					18																	34387880		2203	4300	6503	SO:0001583	missense	25941			BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 10"	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.183G>A	18.37:g.34387880C>T	ENSP00000335144:p.Met61Ile		B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Missense_Mutation	SNP	smart_Cell_wall_assmbl_KNR4-like	p.M61I	ENST00000334295.4	37	c.183	CCDS32817.1	18	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814237	0.50527	.	.	ENSG00000134779	ENST00000334295;ENST00000383056	T;T	0.42513	1.63;0.97	5.91	1.86	0.25419	Cell wall assembly/cell proliferation coordinating protein, KNR4-like (1);	0.123243	0.56097	D	0.000036	T	0.31263	0.0791	L	0.43152	1.355	0.30446	N	0.775745	B;B;B;B	0.26876	0.098;0.023;0.162;0.162	B;B;B;B	0.23419	0.031;0.028;0.031;0.046	T	0.28522	-1.0041	10	0.72032	D	0.01	-6.9134	7.459	0.27283	0.0:0.5949:0.2213:0.1838	.	61;61;61;61	B4DIX2;Q68CL5-3;Q68CL5-1;Q68CL5	.;.;.;TPGS2_HUMAN	I	61	ENSP00000335144:M61I;ENSP00000372530:M61I	ENSP00000335144:M61I	M	-	3	0	C18orf10	32641878	0.936000	0.31750	0.913000	0.36048	0.991000	0.79684	0.022000	0.13511	0.370000	0.24538	0.655000	0.94253	ATG	TPGS2	-	smart_Cell_wall_assmbl_KNR4-like		0.468	TPGS2-001	KNOWN	basic|CCDS	protein_coding	TPGS2	HGNC	protein_coding	OTTHUMT00000440410.2	C	NM_015476		34387880	-1	no_errors	ENST00000334295	ensembl	human	known	70_37	missense	SNP	0.997	T	T	34387880	C	T	34387880	3	4	169	1	0	0	0	0	1	0	0	0	1900	710	25	4	739	4	C18orf10	18	34387880	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		34387880	43689368	79	32245										
C19orf21	126353	genome.wustl.edu	37	chr19	759915	759915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ctgctcccctacaggcatcaCgggcagttactcggtgtctg	11	14	2	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr19:759915C>A	ENST00000215582.6	+	3	1890	c.1787C>A	c.(1786-1788)aCg>aAg	p.T596K		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	596					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ACAGGCATCACGGGCAGTTAC	0.557																																																	0													102	87	92					19																	759915		2203	4300	6503	SO:0001583	missense	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1787C>A	19.37:g.759915C>A	ENSP00000215582:p.Thr596Lys			Missense_Mutation	SNP	NULL	p.T596K	ENST00000215582.6	37	c.1787	CCDS12042.1	19	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554177	0.27739	.	.	ENSG00000099812	ENST00000215582	T	0.33865	1.39	4.68	0.858	0.19030	.	0.427648	0.22438	N	0.060044	T	0.45397	0.1340	L	0.60455	1.87	0.28395	N	0.918888	D	0.69078	0.997	D	0.64595	0.927	T	0.29941	-0.9995	10	0.72032	D	0.01	-15.9993	4.2234	0.10568	0.0:0.5816:0.1862:0.2322	.	596	Q8IVT2	CS021_HUMAN	K	596	ENSP00000215582:T596K	ENSP00000215582:T596K	T	+	2	0	C19orf21	710915	0.000000	0.05858	0.540000	0.28089	0.076000	0.17211	-0.412000	0.07132	0.440000	0.26502	-0.367000	0.07326	ACG	C19orf21	-	NULL		0.557	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf21	HGNC	protein_coding	OTTHUMT00000457600.2	C	NM_173481		759915	1	no_errors	ENST00000215582	ensembl	human	known	70_37	missense	SNP	0.397	A	A	759915	C	A	759915	3	1	169	1	0	0	0	0	1	0	0	0	1918	536	19	2	1793	2	C19orf21	19	759915	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		759915	58369068	80	32246										
TYK2	7297	genome.wustl.edu	37	chr19	10463746	10463746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cggctaggtctcggtggatgTagtgctgcgcgtgcagatag	17	8	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr19:10463746T>C	ENST00000525621.1	-	22	3537	c.3056A>G	c.(3055-3057)tAc>tGc	p.Y1019C	TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Missense_Mutation_p.Y1019C|TYK2_ENST00000524462.1_Missense_Mutation_p.Y834C	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1019	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			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)			TCGGTGGATGTAGTGCTGCGC	0.682																																																	0													57	51	53					19																	10463746		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3056A>G	19.37:g.10463746T>C	ENSP00000431885:p.Tyr1019Cys		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.Y1019C	ENST00000525621.1	37	c.3056	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375540	0.82682	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.287206	0.24206	N	0.040572	D	0.88919	0.6568	N	0.16098	0.37	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.89583	0.3822	10	0.46703	T	0.11	-33.7184	13.4282	0.61039	0.0:0.0:0.0:1.0	.	1019	P29597	TYK2_HUMAN	C	834;1019;1019;766;42	ENSP00000433203:Y834C;ENSP00000431885:Y1019C;ENSP00000264818:Y1019C;ENSP00000436155:Y42C	ENSP00000264818:Y1019C	Y	-	2	0	TYK2	10324746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.054000	0.57434	2.078000	0.62432	0.459000	0.35465	TAC	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.682	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	T			10463746	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10463746	T	C	10463746	3	2	169	1	0	0	0	0	1	0	0	0	16841	1638	57	5	523	5	TYK2	19	10463746	Missense_Mutation	SNP	T	TCGA-LP-A4AW-01A-11D-A243-09	9703831	10463746	48665237	81	32247										
TSHZ3	57616	genome.wustl.edu	37	chr19	31770571	31770571	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tctccgggcacatgtacttgGccgagggctctccatctgcc	11	15	3	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr19:31770571G>C	ENST00000240587.4	-	2	455	c.128C>G	c.(127-129)gCc>gGc	p.A43G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	43					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CATGTACTTGGCCGAGGGCTC	0.587																																																	0													48	50	50					19																	31770571		1960	4152	6112	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.128C>G	19.37:g.31770571G>C	ENSP00000240587:p.Ala43Gly		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.A43G	ENST00000240587.4	37	c.128	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942333	0.34283	.	.	ENSG00000121297	ENST00000240587	T	0.12879	2.64	5.92	5.92	0.95590	.	0.369087	0.23879	U	0.043678	T	0.14657	0.0354	L	0.38175	1.15	0.40502	D	0.980656	B	0.30068	0.267	B	0.25140	0.058	T	0.03717	-1.1010	10	0.41790	T	0.15	-25.3141	20.3116	0.98642	0.0:0.0:1.0:0.0	.	43	Q63HK5	TSH3_HUMAN	G	43	ENSP00000240587:A43G	ENSP00000240587:A43G	A	-	2	0	TSHZ3	36462411	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.135000	0.57997	2.793000	0.96121	0.650000	0.86243	GCC	TSHZ3	-	NULL		0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	G	NM_020856		31770571	-1	no_errors	ENST00000240587	ensembl	human	known	70_37	missense	SNP	1.000	C	C	31770571	G	C	31770571	3	2	169	1	0	0	0	0	1	0	0	0	16656	1203	42	4	3121	4	TSHZ3	19	31770571	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	21306825	31770571	27358412	82	32248										
NPHS1	4868	genome.wustl.edu	37	chr19	36330418	36330418	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ctgatgcagaacctctgtggCaggcccccatcaaagccagg	11	14	2	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr19:36330418C>A	ENST00000378910.5	-	21	2906	c.2907G>T	c.(2905-2907)ctG>ctT	p.L969L	NPHS1_ENST00000353632.6_Silent_p.L969L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	969	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCTCTGTGGCAGGCCCCCAT	0.592																																																	0													70	72	71					19																	36330418		2203	4300	6503	SO:0001819	synonymous_variant	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2907G>T	19.37:g.36330418C>A			A6NDH2|C3RX61	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L969	ENST00000378910.5	37	c.2907	CCDS32996.1	19																																																																																			NPHS1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	C			36330418	-1	no_errors	ENST00000378910	ensembl	human	known	70_37	silent	SNP	0.971	A	A	36330418	C	A	36330418	2	1	169	1	0	0	0	0	0	0	0	1	10606	697	25	4		4	NPHS1	19	36330418	Silent	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	4559847	36330418	22798565	83	32249										
HIF3A	64344	genome.wustl.edu	37	chr19	46838184	46838184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tttccttctgacaggaggacCagccccagggagcctgcagg	13	13	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr19:46838184C>A	ENST00000377670.4	+	14	1884	c.1853C>A	c.(1852-1854)cCa>cAa	p.P618Q	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.P567Q|HIF3A_ENST00000600383.1_Missense_Mutation_p.P549Q|HIF3A_ENST00000300862.3_Missense_Mutation_p.P616Q|HIF3A_ENST00000339613.2_Missense_Mutation_p.P562Q|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000244303.6_Missense_Mutation_p.P549Q	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	618					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACAGGAGGACCAGCCCCAGGG	0.567																																																	0													66	65	65					19																	46838184		2203	4300	6503	SO:0001583	missense	64344			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1853C>A	19.37:g.46838184C>A	ENSP00000366898:p.Pro618Gln		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.P618Q	ENST00000377670.4	37	c.1853	CCDS12681.2	19	.	.	.	.	.	.	.	.	.	.	C	2.654	-0.281301	0.05642	.	.	ENSG00000124440	ENST00000377670;ENST00000244303;ENST00000339613;ENST00000300862;ENST00000420102	T;T;T;T;T	0.63744	0.7;-0.04;0.58;0.7;-0.06	4.61	0.906	0.19314	.	1.641460	0.04258	N	0.339808	T	0.44201	0.1282	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17268	0.021;0.012;0.005;0.003	B;B;B;B	0.12837	0.008;0.004;0.003;0.001	T	0.22591	-1.0212	10	0.25751	T	0.34	.	6.9434	0.24506	0.3562:0.4792:0.1647:0.0	.	567;549;616;618	F5H884;B4DNA2;Q9Y2N7-2;Q9Y2N7	.;.;.;HIF3A_HUMAN	Q	618;549;562;616;567	ENSP00000366898:P618Q;ENSP00000244303:P549Q;ENSP00000341877:P562Q;ENSP00000300862:P616Q;ENSP00000407771:P567Q	ENSP00000244303:P549Q	P	+	2	0	HIF3A	51530024	0.001000	0.12720	0.001000	0.08648	0.454000	0.32378	0.818000	0.27295	0.055000	0.16094	0.555000	0.69702	CCA	HIF3A	-	NULL		0.567	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	C			46838184	1	no_errors	ENST00000377670	ensembl	human	known	70_37	missense	SNP	0.000	A	A	46838184	C	A	46838184	3	1	169	1	0	0	0	0	1	0	0	0	7125	594	21	4	1931	4	HIF3A	19	46838184	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	10507766	46838184	12290799	84	32250										
KLK9	284366	genome.wustl.edu	37	chr19	51506516	51506516	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cagggggcccccagagtcacCctgtacgcgagagaagggca	15	13	1	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr19:51506516C>G	ENST00000594211.1	-	5	604	c.604G>C	c.(604-606)Ggt>Cgt	p.G202R	KLK9_ENST00000376832.4_Splice_Site_p.G202R|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_5'Flank|KLK8_ENST00000391806.2_5'Flank|KLK8_ENST00000291726.7_5'Flank|KLK8_ENST00000600767.1_5'Flank|KLK8_ENST00000320838.5_5'Flank|KLK8_ENST00000347619.4_5'Flank|KLK9_ENST00000250366.6_Splice_Site_p.G202R			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	202	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCAGAGTCACCCTGTACGCGA	0.632																																																	0													36	40	38					19																	51506516		2203	4300	6503	SO:0001630	splice_region_variant	284366			AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"Kallikreins"	6370	protein-coding gene	gene with protein product		605504	"kallikrein 9"			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.604-1G>C	19.37:g.51506516C>G			Q6QA55	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G202R	ENST00000594211.1	37	c.604	CCDS12816.1	19	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451111	0.84209	.	.	ENSG00000213022	ENST00000376832;ENST00000250366	D;D	0.98044	-4.68;-4.68	4.71	4.71	0.59529	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.99023	0.9666	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98997	1.0810	9	0.54805	T	0.06	.	15.5252	0.75898	0.0:1.0:0.0:0.0	.	202;202	Q2XQG6;Q9UKQ9	.;KLK9_HUMAN	R	202	ENSP00000366028:G202R;ENSP00000250366:G202R	ENSP00000250366:G202R	G	-	1	0	KLK9	56198328	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.904000	0.69886	2.598000	0.87819	0.561000	0.74099	GGT	KLK9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.632	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KLK9	Uniprot_genename	protein_coding	OTTHUMT00000465226.1	C	NM_012315	Missense_Mutation	51506516	-1	no_errors	ENST00000250366	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51506516	C	G	51506516	5	3	169	1	0	0	0	0	0	0	1	0	8431	637	22	4	152	4	KLK9	19	51506516	Splice_Site	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	4668332	51506516	7622467	85	32251										
RALY	22913	genome.wustl.edu	37	chr20	32659947	32659947	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ccaagtccatcaactctcgaGtcttcattggaaacctcaac	5	14	5	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr20:32659947G>C	ENST00000246194.3	+	3	569	c.67G>C	c.(67-69)Gtc>Ctc	p.V23L	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.V23L	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	23	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAACTCTCGAGTCTTCATTGG	0.498																																																	0													123	115	117					20																	32659947		2203	4300	6503	SO:0001583	missense	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.67G>C	20.37:g.32659947G>C	ENSP00000246194:p.Val23Leu		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.V23L	ENST00000246194.3	37	c.67	CCDS13230.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.320699	0.95682	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000333552;ENST00000442805	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.82;1.46	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	N	0.11870	0.19	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.85130	0.997;0.997	T	0.38972	-0.9636	10	0.45353	T	0.12	-31.0741	19.6873	0.95984	0.0:0.0:1.0:0.0	.	23;23	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	L	23	ENSP00000364255:V23L;ENSP00000413638:V23L;ENSP00000246194:V23L;ENSP00000403744:V23L;ENSP00000327522:V23L;ENSP00000415973:V23L	ENSP00000246194:V23L	V	+	1	0	RALY	32123608	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.537000	0.98070	2.890000	0.99128	0.585000	0.79938	GTC	RALY	-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom		0.498	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	G			32659947	1	no_errors	ENST00000246194	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32659947	G	C	32659947	3	2	169	1	0	0	0	0	1	0	0	0	13049	1029	36	4	69	4	RALY	20	32659947	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09		32659947	30365573	86	32252										
GDF5	554250	genome.wustl.edu	37	chr20	34022198	34022199	+	Nonsense_Mutation	DNP	TC	TC	GA													0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	aaacaccaggaacagggcctTctcgtggacctgccgggcgg							TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr20:34022198_34022199TC>GA	ENST00000374375.1	+	2	684_685	c.242_243TC>GA	c.(241-243)tTC>tGA	p.F81*	GDF5_ENST00000374372.1_Missense_Mutation_p.338_339EK>DQ|GDF5_ENST00000374369.3_Missense_Mutation_p.338_339EK>DQ			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	81	Arg-rich.					mitochondrion (GO:0005739)				cervix(1)|endometrium(4)|lung(4)	9						AACAGGGCCTTCTCGTGGACCT	0.639																																																	0																																										SO:0001587	stop_gained	8200			BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	Exception_encountered	20.37:g.34022198_34022199delinsGA	ENSP00000363495:p.Phe81*		A6PVI8	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.K339Q|p.E338D	ENST00000374375.1	37	c.1015|c.1014		20																																																																																			GDF5	-	pfam_TGF-b_N		0.639	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000125987.3	T|C			34022198|34022199	-1	no_errors	ENST00000374369	ensembl	human	known	70_37	missense	SNP	1.000	G|A	GA	34022199	TC	GA	34022198	4	3	169	1	0	0	0	0	0	1	0	0	6335	1792	62	5	494	5	GDF5	20	34022198	Nonsense_Mutation	DNP	TC	TCGA-LP-A4AW-01A-11D-A243-09	1362251	34022198	29003322	87	32253										
TMPRSS6	164656	genome.wustl.edu	37	chr22	37482381	37482381	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tcgtagtagctgtgcaggccCttcttccagacgaccgccat	10	14	1	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chr22:37482381C>G	ENST00000346753.3	-	8	1058	c.942G>C	c.(940-942)aaG>aaC	p.K314N	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.K314N|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.K305N|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.K305N|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.K305N	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	314	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGTGCAGGCCCTTCTTCCAGA	0.667																																																	0													33	31	32					22																	37482381		2203	4299	6502	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.942G>C	22.37:g.37482381C>G	ENSP00000334962:p.Lys314Asn		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.K305N	ENST00000346753.3	37	c.915	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804614	0.70682	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	4.83	-1.67	0.08238	CUB (1);	0.067824	0.64402	D	0.000015	T	0.57315	0.2045	L	0.32530	0.975	0.41767	D	0.989748	D;D;D	0.71674	0.996;0.998;0.979	D;D;P	0.66351	0.918;0.943;0.63	T	0.55667	-0.8105	10	0.49607	T	0.09	.	9.4588	0.38772	0.0:0.3755:0.0:0.6245	.	314;305;314	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	N	305;314;305;305;314	ENSP00000371211:K305N;ENSP00000334962:K314N;ENSP00000385453:K305N;ENSP00000384964:K305N;ENSP00000397691:K314N	ENSP00000334962:K314N	K	-	3	2	TMPRSS6	35812327	0.992000	0.36948	0.980000	0.43619	0.981000	0.71138	0.277000	0.18734	-0.111000	0.12001	0.655000	0.94253	AAG	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	C	NM_153609		37482381	-1	no_errors	ENST00000381792	ensembl	human	known	70_37	missense	SNP	0.996	G	G	37482381	C	G	37482381	3	3	169	1	0	0	0	0	1	0	0	0	16281	680	24	4	1537	4	TMPRSS6	22	37482381	Missense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09		37482381	13822185	88	32254										
DHRSX	207063	genome.wustl.edu	37	chrX	2184919	2184919	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tggtcagcaggaagtgccctAggtagttcaggccgaaatgt	14	8	2	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chrX:2184919A>T	ENST00000334651.5	-	5	510	c.458T>A	c.(457-459)cTa>cAa	p.L153Q	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	153							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAAGTGCCCTAGGTAGTTCAG	0.532																																																	0													424	372	390					X																	2184919		2203	4296	6499	SO:0001583	missense	207063			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.458T>A	X.37:g.2184919A>T	ENSP00000334113:p.Leu153Gln		Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.L153Q	ENST00000334651.5	37	c.458	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776551	0.49786	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.25749	1.78;1.78;1.78	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000014	T	0.58264	0.2110	H	0.95224	3.64	0.31703	N	0.640473	D	0.89917	1.0	D	0.80764	0.994	T	0.68788	-0.5316	10	0.87932	D	0	.	9.6251	0.39746	1.0:0.0:0.0:0.0	.	153	Q8N5I4	DHRSX_HUMAN	Q	153;130;86	ENSP00000334113:L153Q;ENSP00000391778:L130Q;ENSP00000402741:L86Q	ENSP00000334113:L153Q	L	-	2	0	DHRSX	2194919	1.000000	0.71417	0.993000	0.49108	0.580000	0.36256	4.821000	0.62679	0.703000	0.31848	0.225000	0.17782	CTA	DHRSX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase		0.532	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	A	NM_145177		2184919	-1	no_errors	ENST00000334651	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2184919	A	T	2184919	3	4	169	1	0	0	0	0	1	0	0	0	4509	420	15	5	546	5	DHRSX	23	2184919	Missense_Mutation	SNP	A	TCGA-LP-A4AW-01A-11D-A243-09		2184919	153085641	89	32255										
TXLNG	55787	genome.wustl.edu	37	chrX	16804696	16804697	+	Missense_Mutation	DNP	GC	GC	AA													0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	cggacggggcggacggcgacGcagcccgcggcagaaggtca							TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chrX:16804696_16804697GC>AA	ENST00000380122.5	+	1	147_148	c.86_87GC>AA	c.(85-87)cGC>cAA	p.R29Q	TXLNG_ENST00000398155.4_Missense_Mutation_p.R29Q	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	29					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GGACGGCGACGCAGCCCGCGGC	0.698																																																	0																																										SO:0001583	missense	55787			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	Exception_encountered	X.37:g.16804696_16804697delinsAA	ENSP00000369465:p.Arg29Gln		Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation|Silent	SNP	pfam_Taxilin_fam	p.R29H|p.R29	ENST00000380122.5	37	c.86|c.87	CCDS14178.1	X																																																																																			TXLNG	-	NULL		0.698	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNG	HGNC	protein_coding	OTTHUMT00000055912.1	G|C	NM_018360		16804696|16804697	1	no_errors	ENST00000380122	ensembl	human	known	70_37	missense|silent	SNP	1.000|0.998	A	AA	16804697	GC	AA	16804696	3	1	169	1	0	0	0	0	1	0	0	0	16820	1087	38	2	88	2	TXLNG	23	16804696	Missense_Mutation	DNP	GC	TCGA-LP-A4AW-01A-11D-A243-09	14619777	16804696	138465864	90	32256										
SMC1A	8243	genome.wustl.edu	37	chrX	53430536	53430536	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ttctgccgtttcaccttttcTtcctcaaactcccggatgtt	5	14	4	0			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chrX:53430536T>G	ENST00000322213.4	-	15	2509	c.2382A>C	c.(2380-2382)gaA>gaC	p.E794D		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	794					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TCACCTTTTCTTCCTCAAACT	0.522																																																	0													188	151	163					X																	53430536		2203	4300	6503	SO:0001583	missense	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2382A>C	X.37:g.53430536T>G	ENSP00000323421:p.Glu794Asp		O14995|Q16351|Q2M228	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.E794D	ENST00000322213.4	37	c.2382	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801662	0.50315	.	.	ENSG00000072501	ENST00000322213	T	0.78707	-1.2	4.58	4.58	0.56647	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.42686	1.345	0.80722	D	1	B;B	0.30973	0.211;0.302	B;B	0.33568	0.082;0.166	T	0.67643	-0.5618	10	0.44086	T	0.13	.	7.3313	0.26584	0.0:0.1028:0.0:0.8972	.	772;794	Q6MZR8;Q14683	.;SMC1A_HUMAN	D	794	ENSP00000323421:E794D	ENSP00000323421:E794D	E	-	3	2	SMC1A	53447261	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.360000	0.44151	1.831000	0.53308	0.425000	0.28330	GAA	SMC1A	-	pfam_RecF/RecN/SMC		0.522	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	T	NM_006306		53430536	-1	no_errors	ENST00000322213	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53430536	T	G	53430536	3	3	169	1	0	0	0	0	1	0	0	0	14811	1606	56	5	1363	5	SMC1A	23	53430536	Missense_Mutation	SNP	T	TCGA-LP-A4AW-01A-11D-A243-09	36625840	53430536	101840024	91	32257										
ZCCHC5	203430	genome.wustl.edu	37	chrX	77912937	77912937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tggcagagttgatggatgcaCtggttggcatctttcatgtt	13	6	2	2			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chrX:77912937C>T	ENST00000321110.1	-	2	1276	c.981G>A	c.(979-981)caG>caA	p.Q327Q		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	327							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GATGGATGCACTGGTTGGCAT	0.463																																																	0													68	57	61					X																	77912937		2203	4300	6503	SO:0001819	synonymous_variant	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.981G>A	X.37:g.77912937C>T			B2RMZ0|Q5JQE9	Silent	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q327	ENST00000321110.1	37	c.981	CCDS14440.1	X																																																																																			ZCCHC5	-	NULL		0.463	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	C	NM_152694		77912937	-1	no_errors	ENST00000321110	ensembl	human	known	70_37	silent	SNP	0.000	T	T	77912937	C	T	77912937	2	4	169	1	0	0	0	0	0	0	0	1	17621	564	20	4		4	ZCCHC5	23	77912937	Silent	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	24482401	77912937	77357623	92	32258										
TNMD	64102	genome.wustl.edu	37	chrX	99849347	99849347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	gaattttctgaaccagaagaGgaaatagatgaggtatgtaa	11	3	1	5			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chrX:99849347G>T	ENST00000373031.4	+	4	628	c.411G>T	c.(409-411)gaG>gaT	p.E137D	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	137	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AACCAGAAGAGGAAATAGATG	0.343																																																	0													71	63	66					X																	99849347		2203	4300	6503	SO:0001583	missense	64102			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"BRICHOS domain containing"	17757	protein-coding gene	gene with protein product	"BRICHOS domain containing 4"	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.411G>T	X.37:g.99849347G>T	ENSP00000362122:p.Glu137Asp		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom	p.E137D	ENST00000373031.4	37	c.411	CCDS14469.1	X	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067307	0.20067	.	.	ENSG00000000005	ENST00000373031	T	0.79653	-1.29	5.87	-0.0677	0.13759	BRICHOS (2);	0.704471	0.13624	N	0.374238	T	0.55513	0.1925	N	0.08118	0	0.24881	N	0.992226	B	0.23937	0.094	B	0.24541	0.054	T	0.39981	-0.9587	10	0.25751	T	0.34	-37.4341	2.5832	0.04824	0.4172:0.1101:0.3595:0.1132	.	137	Q9H2S6	TNMD_HUMAN	D	137	ENSP00000362122:E137D	ENSP00000362122:E137D	E	+	3	2	TNMD	99736003	0.728000	0.28080	0.900000	0.35374	0.927000	0.56198	-0.461000	0.06712	-0.369000	0.08028	0.594000	0.82650	GAG	TNMD	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom		0.343	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNMD	HGNC	protein_coding	OTTHUMT00000057481.1	G	NM_022144		99849347	1	no_errors	ENST00000373031	ensembl	human	known	70_37	missense	SNP	0.784	T	T	99849347	G	T	99849347	3	4	169	1	0	0	0	0	1	0	0	0	16352	991	35	4	425	4	TNMD	23	99849347	Missense_Mutation	SNP	G	TCGA-LP-A4AW-01A-11D-A243-09	21936410	99849347	55421213	93	32259										
GLUD2	2747	genome.wustl.edu	37	chrX	120182357	120182357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	ggacgcatctctgctactggCcgtggtgtcttccatgggat	13	11	2	0	rs145381711	byFrequency	TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chrX:120182357C>T	ENST00000328078.1	+	1	896	c.819C>T	c.(817-819)ggC>ggT	p.G273G		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	273					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CTGCTACTGGCCGTGGTGTCT	0.448																																																	0								C		2,3833		0,2,1630,571	124	96	106		819	0.3	0	X	dbSNP_134	106	0,6728		0,0,2428,1872	no	coding-synonymous	GLUD2	NM_012084.3		0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189		273/559	120182357	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.819C>T	X.37:g.120182357C>T			B2R8G0|Q9UDQ4	Silent	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.G273	ENST00000328078.1	37	c.819	CCDS14603.1	X																																																																																			GLUD2	-	pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH		0.448	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	C	NM_012084		120182357	1	no_errors	ENST00000328078	ensembl	human	known	70_37	silent	SNP	0.990	T	T	120182357	C	T	120182357	2	4	169	1	0	0	0	0	0	0	0	1	6496	726	26	4		4	GLUD2	23	120182357	Silent	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	20333010	120182357	35088203	94	32260										
ZNF185	7739	genome.wustl.edu	37	chrX	152089261	152089261	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	15	0.0337534916483207	1.72300916557553	3.9169741697417	0.678263925496398	0.0483720650572709	0.146627822204852	6	tcctttccagcagtcctaccCaggagacacaggcaccgttt	8	15	0	1			TCGA-LP-A4AW-01A-11D-A243-09	TCGA-LP-A4AW-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42a70aaa-1ae4-4a80-bb04-d0bf0ed8cf2d	dc7ed67b-fb7d-4b7f-b4ba-21db7bfe7a48	g.chrX:152089261C>T	ENST00000370268.4	+	9	659	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	ZNF185_ENST00000535861.1_Nonsense_Mutation_p.Q208*|ZNF185_ENST00000370270.2_Nonsense_Mutation_p.Q208*|ZNF185_ENST00000324823.6_Nonsense_Mutation_p.Q74*|ZNF185_ENST00000539731.1_Nonsense_Mutation_p.Q208*|ZNF185_ENST00000318529.8_Nonsense_Mutation_p.Q46*|ZNF185_ENST00000449285.2_Nonsense_Mutation_p.Q209*|ZNF185_ENST00000318504.7_Nonsense_Mutation_p.Q208*			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	208						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTCCTACCCAGGAGACACA	0.587																																																	0													107	100	102					X																	152089261		2047	4169	6216	SO:0001587	stop_gained	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.622C>T	X.37:g.152089261C>T	ENSP00000359291:p.Gln208*		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Nonsense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.Q208*	ENST00000370268.4	37	c.622	CCDS48184.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.111697|5.111697	0.94339|0.94339	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000426821;ENST00000447088;ENST00000447792|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.270947	.|0.25981	.|N	.|0.027068	T|.	0.63367|.	0.2505|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68247|.	-0.5459|.	3|.	.|0.33141	.|T	.|0.24	-6.2889|-6.2889	13.7791|13.7791	0.63073|0.63073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	52;25;4|208;208;209;208;73;74;74;208;46;69	.|.	.|ENSP00000312782:Q208X	P|Q	+|+	2|1	0|0	ZNF185|ZNF185	151839917|151839917	0.971000|0.971000	0.33674|0.33674	0.291000|0.291000	0.24904|0.24904	0.172000|0.172000	0.22775|0.22775	3.785000|3.785000	0.55424|0.55424	2.412000|2.412000	0.81896|0.81896	0.523000|0.523000	0.50628|0.50628	CCA|CAG	ZNF185	-	NULL		0.587	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	C	NM_007150		152089261	1	no_errors	ENST00000535861	ensembl	human	known	70_37	nonsense	SNP	0.362	T	T	152089261	C	T	152089261	4	4	169	1	0	0	0	0	0	1	0	0	17782	595	21	4	674	4	ZNF185	23	152089261	Nonsense_Mutation	SNP	C	TCGA-LP-A4AW-01A-11D-A243-09	31906904	152089261	3181299	95	32261										
ZNF643	65243	genome.wustl.edu	37	chr1	40928938	40928938	+	Frame_Shift_Del	DEL	T	T	-													0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gtaatgtatgtagtaaaaccTtcagccatagtacataccta							TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr1:40928938delT	ENST00000411995.2	+	6	1657	c.1282delT	c.(1282-1284)ttcfs	p.F428fs	ZFP69B_ENST00000361584.3_Frame_Shift_Del_p.F326fs|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	428					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TAGTAAAACCTTCAGCCATAG	0.378																																																	0													81	83	82					1																	40928938		2203	4300	6503	SO:0001589	frameshift_variant	65243			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1282delT	1.37:g.40928938delT	ENSP00000399664:p.Phe428fs		Q5QPL4	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F428fs	ENST00000411995.2	37	c.1282	CCDS452.2	1																																																																																			ZNF643	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF643	HGNC	protein_coding	OTTHUMT00000019078.2	T	NM_023070		40928938	1	no_errors	ENST00000411995	ensembl	human	known	70_37	frame_shift_del	DEL	0.770	-	-	40928938	T	-	40928938	7	5	170	1	0	1	0	1	0	0	0	0	18089	1609	56	0	1300	0	ZNF643	1	40928938	Frame_Shift_Del	DEL	T	TCGA-LP-A4AX-01A-12D-A243-09		40928938	208321683	1	32262										
FLG2	388698	genome.wustl.edu	37	chr1	152324211	152324211	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	ccagttgtcctggaccctctCtgtgtggactgtccatgacc	10	14	1	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr1:152324211C>G	ENST00000388718.5	-	3	6123	c.6051G>C	c.(6049-6051)caG>caC	p.Q2017H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2017					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGACCCTCTCTGTGTGGACT	0.532																																																	0													390	363	372					1																	152324211		2201	4300	6501	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6051G>C	1.37:g.152324211C>G	ENSP00000373370:p.Gln2017His		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q2017H	ENST00000388718.5	37	c.6051	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	8.696	0.908503	0.17833	.	.	ENSG00000143520	ENST00000388718	T	0.03889	3.77	3.9	-7.81	0.01210	.	.	.	.	.	T	0.00967	0.0032	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.44952	-0.9294	9	0.44086	T	0.13	4.6727	1.8998	0.03265	0.228:0.1738:0.1125:0.4857	.	2017	Q5D862	FILA2_HUMAN	H	2017	ENSP00000373370:Q2017H	ENSP00000373370:Q2017H	Q	-	3	2	FLG2	150590835	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.925000	0.00333	-1.970000	0.01003	0.297000	0.19635	CAG	FLG2	-	NULL		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152324211	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.000	G	G	152324211	C	G	152324211	3	3	170	1	0	0	0	0	1	0	0	0	5941	912	32	1	1128	1	FLG2	1	152324211	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	111395273	152324211	96926410	2	32263										
C1orf85	112770	genome.wustl.edu	37	chr1	156263856	156263856	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gtcgatggagtgctgctcctGcattgaggggcagtcagggc	17	9	1	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr1:156263856G>A	ENST00000362007.1	-	4	777	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	251					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGCTGCTCCTGCATTGAGGGG	0.607																																																	0													113	110	111					1																	156263856		2203	4300	6503	SO:0001587	stop_gained	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.751C>T	1.37:g.156263856G>A	ENSP00000354553:p.Gln251*		A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Nonsense_Mutation	SNP	NULL	p.Q251*	ENST00000362007.1	37	c.751	CCDS1139.1	1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047127	0.36085	.	.	ENSG00000198715	ENST00000362007;ENST00000368264	.	.	.	5.53	1.04	0.20106	.	0.786615	0.12075	N	0.501838	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-13.8142	8.9618	0.35851	0.0:0.1192:0.4641:0.4166	.	.	.	.	X	251;165	.	ENSP00000354553:Q251X	Q	-	1	0	C1orf85	154530480	0.988000	0.35896	0.093000	0.20910	0.145000	0.21501	1.081000	0.30791	0.625000	0.30304	0.462000	0.41574	CAG	C1orf85	-	NULL		0.607	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf85	HGNC	protein_coding	OTTHUMT00000052108.1	G	NM_144580		156263856	-1	no_errors	ENST00000362007	ensembl	human	known	70_37	nonsense	SNP	0.475	A	A	156263856	G	A	156263856	4	1	170	1	0	0	0	0	0	1	0	0	2067	1328	46	4	481	4	C1orf85	1	156263856	Nonsense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	3939645	156263856	92986765	3	32264										
C1orf21	81563	genome.wustl.edu	37	chr1	184446657	184446657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tgagactatgggctgtgcctCcgccaagcatgttgccactg	12	12	0	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr1:184446657C>T	ENST00000235307.6	+	2	449	c.14C>T	c.(13-15)tCc>tTc	p.S5F		NM_030806.3	NP_110433.1	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	5										breast(1)|lung(1)	2		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		GGCTGTGCCTCCGCCAAGCAT	0.458																																																	0													76	69	71					1																	184446657		2203	4300	6503	SO:0001583	missense	81563			AF312864	CCDS1362.1	1q25	2008-07-18			ENSG00000116667	ENSG00000116667			15494	protein-coding gene	gene with protein product	"proliferation-inducing protein 13"					11318611	Standard	NM_030806		Approved	PIG13	uc001gqv.1	Q9H246	OTTHUMG00000035386	ENST00000235307.6:c.14C>T	1.37:g.184446657C>T	ENSP00000235307:p.Ser5Phe		B2R551	Missense_Mutation	SNP	NULL	p.S5F	ENST00000235307.6	37	c.14	CCDS1362.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751645	0.89753	.	.	ENSG00000116667	ENST00000235307	.	.	.	5.4	5.4	0.78164	.	0.113014	0.64402	D	0.000005	T	0.67524	0.2902	L	0.29908	0.895	0.80722	D	1	D	0.58970	0.984	D	0.74348	0.983	T	0.70436	-0.4872	9	0.87932	D	0	.	18.5099	0.90913	0.0:1.0:0.0:0.0	.	5	Q9H246	CA021_HUMAN	F	5	.	ENSP00000235307:S5F	S	+	2	0	C1orf21	182713280	1.000000	0.71417	0.999000	0.59377	1.000000	0.99986	5.458000	0.66679	2.687000	0.91594	0.655000	0.94253	TCC	C1orf21	-	NULL		0.458	C1orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf21	HGNC	protein_coding	OTTHUMT00000085784.2	C	NM_030806		184446657	1	no_errors	ENST00000235307	ensembl	human	known	70_37	missense	SNP	1.000	T	T	184446657	C	T	184446657	3	4	170	1	0	0	0	0	1	0	0	0	2033	855	30	1	16	1	C1orf21	1	184446657	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	28182801	184446657	64803964	4	32265										
PTPRC	5788	genome.wustl.edu	37	chr1	198721825	198721825	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tctctatgattcaggtcgtcAaacaaaaacttccccagaag	6	11	3	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr1:198721825A>T	ENST00000367376.2	+	31	3598	c.3427A>T	c.(3427-3429)Aaa>Taa	p.K1143*	PTPRC_ENST00000348564.6_Nonsense_Mutation_p.K984*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.K1145*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.K1095*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.K982*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1143	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAGGTCGTCAAACAAAAACT	0.448																																																	0													75	76	76					1																	198721825		2203	4300	6503	SO:0001587	stop_gained	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3427A>T	1.37:g.198721825A>T	ENSP00000356346:p.Lys1143*		A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K1145*	ENST00000367376.2	37	c.3433		1	.	.	.	.	.	.	.	.	.	.	A	37	6.313458	0.97467	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	.	.	.	6.02	6.02	0.97574	.	0.000000	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1131	0.72375	1.0:0.0:0.0:0.0	.	.	.	.	X	1145;1095;1143;982	.	ENSP00000306782:K982X	K	+	1	0	PTPRC	196988448	1.000000	0.71417	0.691000	0.30163	0.034000	0.12701	7.345000	0.79337	2.304000	0.77564	0.528000	0.53228	AAA	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.448	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		A			198721825	1	no_errors	ENST00000442510	ensembl	human	known	70_37	nonsense	SNP	0.879	T	T	198721825	A	T	198721825	4	4	170	1	0	0	0	0	0	1	0	0	12827	131	5	5	3556	5	PTPRC	1	198721825	Nonsense_Mutation	SNP	A	TCGA-LP-A4AX-01A-12D-A243-09	14275168	198721825	50528796	5	32266										
UBE2T	29089	genome.wustl.edu	37	chr1	202302388	202302388	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gtcagccatgagcgggtcatCagggttgggttctgacatga	15	8	4	3			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr1:202302388C>T	ENST00000367274.4	-	5	510	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	121					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|skin(1)	5						AGCGGGTCATCAGGGTTGGGT	0.468																																																	0													311	307	308					1																	202302388		2203	4300	6503	SO:0001583	missense	29089			AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"Ubiquitin-conjugating enzymes E2"	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.361G>A	1.37:g.202302388C>T	ENSP00000356243:p.Asp121Asn		Q2TU36	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D121N	ENST00000367274.4	37	c.361	CCDS1425.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.631419	0.96682	.	.	ENSG00000077152	ENST00000367274	T	0.37584	1.19	5.82	5.82	0.92795	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	L	0.53617	1.68	0.80722	D	1	P	0.37441	0.595	B	0.43575	0.424	T	0.38714	-0.9648	10	0.66056	D	0.02	-23.7498	18.8625	0.92278	0.0:1.0:0.0:0.0	.	121	Q9NPD8	UBE2T_HUMAN	N	121	ENSP00000356243:D121N	ENSP00000356243:D121N	D	-	1	0	UBE2T	200569011	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.391000	0.79828	2.755000	0.94549	0.591000	0.81541	GAT	UBE2T	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.468	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2T	HGNC	protein_coding	OTTHUMT00000099163.1	C	NM_014176		202302388	-1	no_errors	ENST00000367274	ensembl	human	known	70_37	missense	SNP	1.000	T	T	202302388	C	T	202302388	3	4	170	1	0	0	0	0	1	0	0	0	16904	826	29	1	244	1	UBE2T	1	202302388	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	3580563	202302388	46948233	6	32267										
MYT1L	23040	genome.wustl.edu	37	chr2	1921047	1921047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tgtgggtacagcccagttacGtggccggttccatcacaccc	11	14	1	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr2:1921047G>A	ENST00000399161.2	-	11	2295	c.1548C>T	c.(1546-1548)caC>caT	p.H516H	MYT1L_ENST00000428368.2_Silent_p.H514H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	516					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H516H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCCAGTTACGTGGCCGGTTC	0.537																																																	1	Substitution - coding silent(1)	lung(1)											193	201	198					2																	1921047		1986	4174	6160	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1548C>T	2.37:g.1921047G>A			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.H516	ENST00000399161.2	37	c.1548		2																																																																																			MYT1L	-	pfam_Znf_C2HC		0.537	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	G	NM_015025		1921047	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	silent	SNP	0.996	A	A	1921047	G	A	1921047	2	1	170	1	0	0	0	0	0	0	0	1	10130	1136	40	2		2	MYT1L	2	1921047	Silent	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09		1921047	241278326	7	32268										
SLC4A1AP	22950	genome.wustl.edu	37	chr2	27905202	27905202	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	atgaaaggaggaagcaaattCaaattaaaaactggaacagt	9	4	1	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr2:27905202C>A	ENST00000326019.6	+	9	2133	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	617						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAAGCAAATTCAAATTAAAAA	0.378																																																	0													61	60	60					2																	27905202		2203	4300	6503	SO:0001583	missense	22950				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1851C>A	2.37:g.27905202C>A	ENSP00000323837:p.Phe617Leu		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.F617L	ENST00000326019.6	37	c.1851	CCDS33166.1	2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013663	0.54468	.	.	ENSG00000163798	ENST00000326019	T	0.31247	1.5	5.66	4.6	0.57074	.	0.044409	0.85682	D	0.000000	T	0.41396	0.1157	M	0.68317	2.08	0.80722	D	1	P	0.51653	0.947	P	0.53035	0.716	T	0.08513	-1.0718	10	0.21540	T	0.41	-12.0745	11.9282	0.52831	0.0:0.8519:0.0:0.1481	.	617	Q9BWU0	NADAP_HUMAN	L	617	ENSP00000323837:F617L	ENSP00000323837:F617L	F	+	3	2	SLC4A1AP	27758706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.391000	0.44424	2.653000	0.90120	0.561000	0.74099	TTC	SLC4A1AP	-	NULL		0.378	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	C	NM_018158		27905202	1	no_errors	ENST00000326019	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27905202	C	A	27905202	3	1	170	1	0	0	0	0	1	0	0	0	14683	825	29	3	1885	3	SLC4A1AP	2	27905202	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	25984155	27905202	215294171	8	32269										
TFCP2L1	29842	genome.wustl.edu	37	chr2	121989525	121989525	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tccaaggtggtcagctcttcCaggaagatggcgtggtacac	13	10	2	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr2:121989525C>G	ENST00000263707.5	-	13	1315	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	406					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCAGCTCTTCCAGGAAGATGG	0.597																																																	0													204	160	175					2																	121989525		2203	4300	6503	SO:0001819	synonymous_variant	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1218G>C	2.37:g.121989525C>G			Q4ZG43	Silent	SNP	pfam_CP2,superfamily_SAM/pointed	p.L406	ENST00000263707.5	37	c.1218	CCDS2134.1	2																																																																																			TFCP2L1	-	NULL		0.597	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	HGNC	protein_coding	OTTHUMT00000338539.1	C	NM_014553		121989525	-1	no_errors	ENST00000263707	ensembl	human	known	70_37	silent	SNP	1.000	G	G	121989525	C	G	121989525	2	3	170	1	0	0	0	0	0	0	0	1	15826	581	21	4		4	TFCP2L1	2	121989525	Silent	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	94084323	121989525	121209848	9	32270										
TTN	7273	genome.wustl.edu	37	chr2	179611840	179611840	+	Intron	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gagtctctcctgggggtgtgGagtatctctccagagtctct	13	10	3	1	rs397517814		TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr2:179611840G>C	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S5096C|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGGTGTGGAGTATCTCTC	0.537																																																	0													63	74	70					2																	179611840		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5192C>G	2.37:g.179611840G>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S5096C	ENST00000591111.1	37	c.15287		2	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069277	0.36470	.	.	ENSG00000155657	ENST00000360870	T	0.61980	0.06	5.49	5.49	0.81192	.	.	.	.	.	T	0.77164	0.4090	M	0.61703	1.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.76903	-0.2787	9	0.52906	T	0.07	.	17.9134	0.88942	0.0:0.0:1.0:0.0	.	5096	Q8WZ42-6	.	C	5096	ENSP00000354117:S5096C	ENSP00000354117:S5096C	S	-	2	0	TTN	179320085	0.000000	0.05858	0.653000	0.29593	0.609000	0.37215	0.466000	0.22019	2.748000	0.94277	0.655000	0.94253	TCC	TTN	-	NULL		0.537	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179611840	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.446	C	C	179611840	G	C	179611840	1	2	170	0	1	0	0	0	0	0	0	0	16766	1174	41	1		1	TTN	2	179611840	Intron	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	57622315	179611840	63587533	10	32271										
ITIH1	3697	genome.wustl.edu	37	chr3	52816048	52816048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gggcacttcaaggtgacctaCgatgtcagtcgagacaagat	12	9	2	3	rs372878494		TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr3:52816048C>T	ENST00000273283.2	+	7	804	c.780C>T	c.(778-780)taC>taT	p.Y260Y	ITIH1_ENST00000542827.1_Silent_p.Y260Y|ITIH1_ENST00000540715.1_Silent_p.Y118Y|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	260					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGGTGACCTACGATGTCAGTC	0.592																																																	0								C	,,,	0,4406		0,0,2203	156	127	137		354,,,780	-10.2	0.2	3		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-5,utr-5,coding-synonymous	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	118/770,,,260/912	52816048	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.780C>T	3.37:g.52816048C>T			A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.Y260	ENST00000273283.2	37	c.780	CCDS2864.1	3																																																																																			ITIH1	-	NULL		0.592	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	C	NM_002215		52816048	1	no_errors	ENST00000273283	ensembl	human	known	70_37	silent	SNP	0.141	T	T	52816048	C	T	52816048	2	4	170	1	0	0	0	0	0	0	0	1	7923	547	19	2		2	ITIH1	3	52816048	Silent	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		52816048	145206382	11	32272										
DZIP1L	199221	genome.wustl.edu	37	chr3	137816688	137816688	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	atgtcttgtcacacaggtggCactatacagagaggaagcaa	11	8	2	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr3:137816688C>T	ENST00000327532.2	-	3	865	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	DZIP1L_ENST00000469243.1_Splice_Site_p.C168Y	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	168					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACACAGGTGGCACTATACAGA	0.557											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53	41	45					3																	137816688		2203	4300	6503	SO:0001630	splice_region_variant	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.502-1G>A	3.37:g.137816688C>T		1636	C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.C168Y	ENST00000327532.2	37	c.503	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165318	0.78339	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.55052	0.54;0.54	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.82323	2.585	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	T	0.79538	-0.1762	10	0.87932	D	0	-16.0786	17.7193	0.88345	0.0:1.0:0.0:0.0	.	168;168	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	Y	168	ENSP00000332148:C168Y;ENSP00000419486:C168Y	ENSP00000332148:C168Y	C	-	2	0	DZIP1L	139299378	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.021000	0.64072	2.531000	0.85337	0.655000	0.94253	TGC	DZIP1L	-	pfscan_Znf_C2H2		0.557	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	C	NM_173543	Missense_Mutation	137816688	-1	no_errors	ENST00000327532	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137816688	C	T	137816688	5	4	170	1	0	0	0	0	0	0	1	0	4874	724	25	4	1865	4	DZIP1L	3	137816688	Splice_Site	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	85000640	137816688	60205742	12	32273										
C4orf34	201895	genome.wustl.edu	37	chr4	39606751	39606751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	acacattcacagggatcaaaTccaccttctgccatgattac	5	13	3	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr4:39606751T>C	ENST00000295958.5	-	2	401	c.15A>G	c.(13-15)ggA>ggG	p.G5G	SMIM14_ENST00000510628.1_Intron|SMIM14_ENST00000511809.1_Silent_p.G5G	NM_174921.1	NP_777581.1	Q96QK8	SIM14_HUMAN	small integral membrane protein 14	5						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AGGGATCAAATCCACCTTCTG	0.378																																																	0													196	158	171					4																	39606751		2203	4300	6503	SO:0001819	synonymous_variant	201895			BC008502	CCDS3456.1	4p14	2014-02-10	2012-12-03	2012-12-03	ENSG00000163683	ENSG00000163683			27321	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 34"	C4orf34		15231747, 24499674, 23759569	Standard	NM_174921		Approved	FLJ13289	uc003guo.3	Q96QK8	OTTHUMG00000128581	ENST00000295958.5:c.15A>G	4.37:g.39606751T>C				Silent	SNP	pfam_Uncharacterised_CD034/YQF4	p.G5	ENST00000295958.5	37	c.15	CCDS3456.1	4																																																																																			C4orf34	-	pfam_Uncharacterised_CD034/YQF4		0.378	SMIM14-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C4orf34	HGNC	protein_coding	OTTHUMT00000250434.4	T	NM_174921		39606751	-1	no_errors	ENST00000295958	ensembl	human	known	70_37	silent	SNP	1.000	C	C	39606751	T	C	39606751	2	2	170	1	0	0	0	0	0	0	0	1	2269	1422	50	5		5	C4orf34	4	39606751	Silent	SNP	T	TCGA-LP-A4AX-01A-12D-A243-09		39606751	151547525	13	32274										
PDS5A	23244	genome.wustl.edu	37	chr4	39868556	39868556	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	accgaagggttgaattggcaGatttagactggttgtttttc	12	5	0	3			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr4:39868556G>C	ENST00000303538.8	-	23	3106	c.2567C>G	c.(2566-2568)tCt>tGt	p.S856C		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGAATTGGCAGATTTAGACTG	0.378																																																	0													73	68	69					4																	39868556		1864	4110	5974	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2567C>G	4.37:g.39868556G>C	ENSP00000303427:p.Ser856Cys			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S856C	ENST00000303538.8	37	c.2567	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	G	31	5.084858	0.94100	.	.	ENSG00000121892	ENST00000303538	T	0.65364	-0.15	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80778	0.4688	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79971	-0.1578	9	.	.	.	-13.5492	19.8489	0.96731	0.0:0.0:1.0:0.0	.	856	Q29RF7	PDS5A_HUMAN	C	856	ENSP00000303427:S856C	.	S	-	2	0	PDS5A	39544951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.689000	0.91719	0.655000	0.94253	TCT	PDS5A	-	superfamily_ARM-type_fold		0.378	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	G	NM_015200		39868556	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39868556	G	C	39868556	3	2	170	1	0	0	0	0	1	0	0	0	11715	942	33	1	1490	1	PDS5A	4	39868556	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	261805	39868556	151285720	14	32275										
NLN	57486	genome.wustl.edu	37	chr5	65058893	65058893	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tctcgttttgatattgagatGagcatgagaggagatatatt	11	3	1	5			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr5:65058893G>A	ENST00000380985.5	+	3	586	c.408G>A	c.(406-408)atG>atA	p.M136I	NLN_ENST00000502464.1_Missense_Mutation_p.M32I	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	136						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATATTGAGATGAGCATGAGAG	0.378																																																	0													126	122	123					5																	65058893		2203	4300	6503	SO:0001583	missense	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.408G>A	5.37:g.65058893G>A	ENSP00000370372:p.Met136Ile		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.M136I	ENST00000380985.5	37	c.408	CCDS3989.1	5	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720440	0.48728	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159	T;T	0.05786	3.39;3.39	5.65	5.65	0.86999	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.196589	0.53938	D	0.000041	T	0.19046	0.0457	L	0.41632	1.29	0.45035	D	0.998059	B;D	0.57571	0.075;0.98	B;D	0.68192	0.045;0.956	T	0.00136	-1.2006	10	0.42905	T	0.14	-20.1651	20.1057	0.97893	0.0:0.0:1.0:0.0	.	136;136	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	I	136;32;136	ENSP00000370372:M136I;ENSP00000423214:M32I	ENSP00000339283:M136I	M	+	3	0	NLN	65094649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.253000	0.58791	2.827000	0.97445	0.650000	0.86243	ATG	NLN	-	NULL		0.378	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	G			65058893	1	no_errors	ENST00000380985	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65058893	G	A	65058893	3	1	170	1	0	0	0	0	1	0	0	0	10491	1290	45	1	418	1	NLN	5	65058893	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09		65058893	115856367	15	32276										
PCDHB6	56130	genome.wustl.edu	37	chr5	140531440	140531440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	cgcgtgggcgccacagaccgCggctccccggcgttgagcag	16	16	0	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr5:140531440C>T	ENST00000231136.1	+	1	1602	c.1602C>T	c.(1600-1602)cgC>cgT	p.R534R	PCDHB6_ENST00000543635.1_Silent_p.R398R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACAGACCGCGGCTCCCCGG	0.662																																																	0													56	62	60					5																	140531440		2202	4300	6502	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1602C>T	5.37:g.140531440C>T			B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R534	ENST00000231136.1	37	c.1602	CCDS4248.1	5																																																																																			PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140531440	1	no_errors	ENST00000231136	ensembl	human	known	70_37	silent	SNP	0.006	T	T	140531440	C	T	140531440	2	4	170	1	0	0	0	0	0	0	0	1	11570	755	27	2		2	PCDHB6	5	140531440	Silent	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	75472547	140531440	40383820	16	32277										
HTR4	3360	genome.wustl.edu	37	chr5	147889077	147889077	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	acaagggacagtctggcccaGaatggaaggtcttcggtagc	14	9	2	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr5:147889077G>C	ENST00000377888.3	-	6	1156	c.1018C>G	c.(1018-1020)Ctg>Gtg	p.L340V	HTR4_ENST00000521530.1_Missense_Mutation_p.L340V|HTR4_ENST00000362016.2_Missense_Mutation_p.L354V|HTR4_ENST00000517929.1_Missense_Mutation_p.L340V|HTR4_ENST00000354217.2_Missense_Mutation_p.L340V|HTR4_ENST00000521735.1_Missense_Mutation_p.L340V|HTR4_ENST00000520514.1_Missense_Mutation_p.L340V|HTR4_ENST00000360693.3_Missense_Mutation_p.L340V|HTR4_ENST00000314512.6_Missense_Mutation_p.L340V	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	340					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GTCTGGCCCAGAATGGAAGGT	0.438																																					GBM(120;370 1604 14007 17804 41573)												0													107	94	98					5																	147889077		2203	4300	6503	SO:0001583	missense	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1018C>G	5.37:g.147889077G>C	ENSP00000367120:p.Leu340Val		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.L340V	ENST00000377888.3	37	c.1018	CCDS4291.1	5	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248625	0.39797	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.57;-0.57;-0.55;-0.54;-0.59;-0.55;-0.51	5.79	4.93	0.64822	.	0.063315	0.64402	D	0.000004	T	0.62696	0.2449	M	0.62723	1.935	0.42644	D	0.99342	P;B;B;B;B;B;B	0.35745	0.518;0.113;0.091;0.063;0.18;0.239;0.245	B;B;B;B;B;B;B	0.33620	0.08;0.031;0.103;0.108;0.108;0.167;0.05	T	0.58792	-0.7574	10	0.14252	T	0.57	.	9.9718	0.41759	0.1555:0.0:0.8445:0.0	.	340;340;340;354;340;340;340	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	V	340;340;340;340;340;340;340;340;354	ENSP00000428320:L340V;ENSP00000346156:L340V;ENSP00000314906:L340V;ENSP00000430979:L340V;ENSP00000435904:L340V;ENSP00000427913:L340V;ENSP00000367120:L340V;ENSP00000353915:L340V;ENSP00000355037:L354V	ENSP00000314906:L340V	L	-	1	2	HTR4	147869270	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.254000	0.18314	1.452000	0.47756	0.563000	0.77884	CTG	HTR4	-	prints_5HT4_rcpt		0.438	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	HGNC	protein_coding	OTTHUMT00000252187.2	G	NM_000870		147889077	-1	no_errors	ENST00000360693	ensembl	human	known	70_37	missense	SNP	1.000	C	C	147889077	G	C	147889077	3	2	170	1	0	0	0	0	1	0	0	0	7469	933	33	1	452	1	HTR4	5	147889077	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	7357637	147889077	33026183	17	32278										
HTR4	3360	genome.wustl.edu	37	chr5	147889204	147889204	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	ttgatatagccgagccagagGaaagcagtccacacctgccc	10	13	0	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr5:147889204G>A	ENST00000377888.3	-	6	1029	c.891C>T	c.(889-891)ttC>ttT	p.F297F	HTR4_ENST00000521530.1_Silent_p.F297F|HTR4_ENST00000362016.2_Silent_p.F311F|HTR4_ENST00000517929.1_Silent_p.F297F|HTR4_ENST00000354217.2_Silent_p.F297F|HTR4_ENST00000521735.1_Silent_p.F297F|HTR4_ENST00000520514.1_Silent_p.F297F|HTR4_ENST00000360693.3_Silent_p.F297F|HTR4_ENST00000314512.6_Silent_p.F297F	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	297					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CGAGCCAGAGGAAAGCAGTCC	0.488																																					GBM(120;370 1604 14007 17804 41573)												0													94	93	94					5																	147889204		2203	4300	6503	SO:0001819	synonymous_variant	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.891C>T	5.37:g.147889204G>A			C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.F297	ENST00000377888.3	37	c.891	CCDS4291.1	5																																																																																			HTR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn		0.488	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	HGNC	protein_coding	OTTHUMT00000252187.2	G	NM_000870		147889204	-1	no_errors	ENST00000360693	ensembl	human	known	70_37	silent	SNP	1.000	A	A	147889204	G	A	147889204	2	1	170	1	0	0	0	0	0	0	0	1	7469	1165	41	1		1	HTR4	5	147889204	Silent	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	127	147889204	33026056	18	32279										
ADRA1B	147	genome.wustl.edu	37	chr5	159344627	159344627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gaaccaccaagaacctagagGcaggagtcatgaaggagatg	13	8	1	4			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr5:159344627G>T	ENST00000306675.3	+	1	838	c.715G>T	c.(715-717)Gca>Tca	p.A239S		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	GAACCTAGAGGCAGGAGTCAT	0.522																																																	0													126	123	124					5																	159344627		2203	4300	6503	SO:0001583	missense	147			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"GPCR / Class A : Adrenoceptors : alpha"	278	protein-coding gene	gene with protein product		104220	"adrenergic, alpha-1B-, receptor"				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.715G>T	5.37:g.159344627G>T	ENSP00000306662:p.Ala239Ser		B0LPE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.A239S	ENST00000306675.3	37	c.715	CCDS4347.1	5	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240115	0.58995	.	.	ENSG00000170214	ENST00000306675	T	0.71579	-0.58	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.094754	0.64402	D	0.000001	T	0.60470	0.2271	N	0.11870	0.19	0.51233	D	0.99991	B	0.33379	0.41	B	0.41174	0.349	T	0.55903	-0.8067	10	0.15066	T	0.55	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	239	P35368	ADA1B_HUMAN	S	239	ENSP00000306662:A239S	ENSP00000306662:A239S	A	+	1	0	ADRA1B	159277205	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GCA	ADRA1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.522	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1B	HGNC	protein_coding	OTTHUMT00000252676.1	G			159344627	1	no_errors	ENST00000306675	ensembl	human	known	70_37	missense	SNP	1.000	T	T	159344627	G	T	159344627	3	4	170	1	0	0	0	0	1	0	0	0	335	1203	42	4	717	4	ADRA1B	5	159344627	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	11455423	159344627	21570633	19	32280										
HIST1H4C	8364	genome.wustl.edu	37	chr6	26104310	26104310	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gctcggcgcggtggcgtcaaGcgcatttccggtcttatcta	13	12	3	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr6:26104310G>C	ENST00000377803.2	+	1	207	c.135G>C	c.(133-135)aaG>aaC	p.K45N		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	45					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GTGGCGTCAAGCGCATTTCCG	0.547																																																	0													69	67	68					6																	26104310		2203	4300	6503	SO:0001583	missense	8364			X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.135G>C	6.37:g.26104310G>C	ENSP00000367034:p.Lys45Asn		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.K45N	ENST00000377803.2	37	c.135	CCDS4583.1	6	.	.	.	.	.	.	.	.	.	.	.	16.76	3.211369	0.58343	.	.	ENSG00000197061	ENST00000377803	T	0.69040	-0.37	4.57	2.79	0.32731	.	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	.	.	.	0.50039	D	0.999845	.	.	.	.	.	.	T	0.68503	-0.5391	7	0.87932	D	0	.	9.9394	0.41572	0.1655:0.0:0.8345:0.0	.	.	.	.	N	45	ENSP00000367034:K45N	ENSP00000367034:K45N	K	+	3	2	HIST1H4C	26212289	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	4.759000	0.62227	0.669000	0.31146	0.561000	0.74099	AAG	HIST1H4C	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.547	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4C	HGNC	protein_coding	OTTHUMT00000040092.2	G	NM_003542		26104310	1	no_errors	ENST00000377803	ensembl	human	known	70_37	missense	SNP	1.000	C	C	26104310	G	C	26104310	3	2	170	1	0	0	0	0	1	0	0	0	7187	962	34	4	137	4	HIST1H4C	6	26104310	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09		26104310	145010757	20	32281										
EGFL8	80864	genome.wustl.edu	37	chr6	32134696	32134696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tctgtcctcagccatctgcgCcaagccttgcctgaacggag	10	15	3	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr6:32134696C>T	ENST00000395512.1	+	5	449	c.344C>T	c.(343-345)gCc>gTc	p.A115V	EGFL8_ENST00000333845.6_Missense_Mutation_p.A115V|AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	115	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GCCATCTGCGCCAAGCCTTGC	0.662																																																	0													58	58	58					6																	32134696		1511	2709	4220	SO:0001583	missense	80864			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"chromosome 6 open reading frame 8"	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.344C>T	6.37:g.32134696C>T	ENSP00000378888:p.Ala115Val		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain	p.A115V	ENST00000395512.1	37	c.344	CCDS4743.1	6	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075165	0.36566	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.92647	-3.08;-3.08;1.89	6.08	5.21	0.72293	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.74921	0.3780	N	0.17278	0.47	0.22851	N	0.998658	B	0.27910	0.193	B	0.27608	0.081	T	0.65146	-0.6239	9	0.27785	T	0.31	-1.8942	11.2047	0.48762	0.0:0.9164:0.0:0.0836	.	115	Q99944	EGFL8_HUMAN	V	115	ENSP00000333380:A115V;ENSP00000378888:A115V;ENSP00000401694:A115V	ENSP00000333380:A115V	A	+	2	0	EGFL8	32242674	0.004000	0.15560	0.997000	0.53966	0.859000	0.49053	0.266000	0.18534	1.586000	0.49944	0.655000	0.94253	GCC	EGFL8	-	pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.662	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL8	HGNC	protein_coding	OTTHUMT00000076463.3	C	NM_030652		32134696	1	no_errors	ENST00000333845	ensembl	human	known	70_37	missense	SNP	0.977	T	T	32134696	C	T	32134696	3	4	170	1	0	0	0	0	1	0	0	0	4975	739	26	4	358	4	EGFL8	6	32134696	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	6030386	32134696	138980371	21	32282										
SFRS3	6428	genome.wustl.edu	37	chr6	36564728	36564728	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	cgagatgcagctgatgcagtCcgagagctagatggaaggtg	16	7	0	4			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr6:36564728C>T	ENST00000373715.6	+	2	305	c.189C>T	c.(187-189)gtC>gtT	p.V63V	SRSF3_ENST00000339436.7_Silent_p.V63V	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	63	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						CTGATGCAGTCCGAGAGCTAG	0.428																																																	0													57	60	59					6																	36564728		2203	4300	6503	SO:0001819	synonymous_variant	6428			L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10785	protein-coding gene	gene with protein product		603364	"splicing factor, arginine/serine-rich 3"	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.189C>T	6.37:g.36564728C>T			B4E241|O08831|P23152|Q5R3K0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V63	ENST00000373715.6	37	c.189	CCDS4823.1	6																																																																																			SRSF3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.428	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF3	HGNC	protein_coding	OTTHUMT00000040347.2	C	NM_003017		36564728	1	no_errors	ENST00000373715	ensembl	human	known	70_37	silent	SNP	0.986	T	T	36564728	C	T	36564728	2	4	170	1	0	0	0	0	0	0	0	1	14208	842	30	1		1	SFRS3	6	36564728	Silent	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	4430032	36564728	134550339	22	32283										
TAB2	23118	genome.wustl.edu	37	chr6	149719189	149719189	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	ccaaagaaattgatctttttCaagcccgaggtaaagttcag	8	8	3	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr6:149719189C>G	ENST00000367456.1	+	6	2426	c.1849C>G	c.(1849-1851)Caa>Gaa	p.Q617E	TAB2_ENST00000286332.5_Missense_Mutation_p.Q617E|TAB2_ENST00000538427.1_Missense_Mutation_p.Q617E|SUMO4_ENST00000326669.4_5'Flank|TAB2_ENST00000536230.1_Missense_Mutation_p.Q585E			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	617					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TGATCTTTTTCAAGCCCGAGG	0.343																																																	0													74	74	74					6																	149719189		2203	4300	6503	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1849C>G	6.37:g.149719189C>G	ENSP00000356426:p.Gln617Glu		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.Q617E	ENST00000367456.1	37	c.1849	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134477	0.77662	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.75154	-0.91;-0.89;-0.89;-0.89	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	L	0.54323	1.7	0.80722	D	1	P;P	0.48764	0.915;0.915	P;P	0.49361	0.608;0.608	T	0.77474	-0.2574	10	0.87932	D	0	-10.5777	19.3539	0.94402	0.0:1.0:0.0:0.0	.	585;617	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	E	585;617;617;617	ENSP00000443206:Q585E;ENSP00000445752:Q617E;ENSP00000356426:Q617E;ENSP00000286332:Q617E	ENSP00000286332:Q617E	Q	+	1	0	TAB2	149760882	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.502000	0.66956	2.640000	0.89533	0.591000	0.81541	CAA	TAB2	-	NULL		0.343	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	C			149719189	1	no_errors	ENST00000286332	ensembl	human	known	70_37	missense	SNP	1.000	G	G	149719189	C	G	149719189	3	3	170	1	0	0	0	0	1	0	0	0	15526	827	29	1	1863	1	TAB2	6	149719189	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	113154461	149719189	21395878	23	32284										
SYNE1	23345	genome.wustl.edu	37	chr6	152555007	152555007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gctcagagcgcagcgtggctGtgtccaccttttttagtcga	12	11	1	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr6:152555007G>C	ENST00000367255.5	-	112	21222	c.20621C>G	c.(20620-20622)aCa>aGa	p.T6874R	SYNE1_ENST00000265368.4_Missense_Mutation_p.T6874R|SYNE1_ENST00000341594.5_Missense_Mutation_p.T6486R|SYNE1_ENST00000356820.4_Missense_Mutation_p.T1398R|SYNE1_ENST00000423061.1_Missense_Mutation_p.T6803R|SYNE1_ENST00000448038.1_Missense_Mutation_p.T6803R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6874					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		CAGCGTGGCTGTGTCCACCTT	0.493										HNSCC(10;0.0054)																																							0													86	77	80					6																	152555007		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20621C>G	6.37:g.152555007G>C	ENSP00000356224:p.Thr6874Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.T6874R	ENST00000367255.5	37	c.20621	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948350	0.53186	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.51325	0.75;0.75;0.75;0.75;0.75;0.71	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000007	T	0.63094	0.2482	M	0.81497	2.545	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.74023	0.959;0.959;0.982	T	0.63945	-0.6522	10	0.46703	T	0.11	.	14.3058	0.66384	0.0705:0.0:0.9295:0.0	.	6874;6874;6803	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	6874;6803;6874;6803;6486;1398	ENSP00000356224:T6874R;ENSP00000396024:T6803R;ENSP00000265368:T6874R;ENSP00000390975:T6803R;ENSP00000341887:T6486R;ENSP00000349276:T1398R	ENSP00000265368:T6874R	T	-	2	0	SYNE1	152596700	1.000000	0.71417	0.982000	0.44146	0.043000	0.13939	7.658000	0.83755	2.779000	0.95612	0.655000	0.94253	ACA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152555007	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	C	C	152555007	G	C	152555007	3	2	170	1	0	0	0	0	1	0	0	0	15475	1377	48	4	5985	4	SYNE1	6	152555007	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	2835818	152555007	18560060	24	32285										
AMZ1	155185	genome.wustl.edu	37	chr7	2740305	2740305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tcctgagccgacccgaggctCccgaggacttccagaccttc	10	17	0	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr7:2740305C>T	ENST00000312371.4	+	2	588	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	AMZ1_ENST00000407112.1_Missense_Mutation_p.P74S	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	74							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		ACCCGAGGCTCCCGAGGACTT	0.667																																																	0													57	65	62					7																	2740305		2203	4300	6503	SO:0001583	missense	155185			AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.220C>T	7.37:g.2740305C>T	ENSP00000308149:p.Pro74Ser		B3KRS0|Q8TF51	Missense_Mutation	SNP	pfam_Pept_M54_archaemetzincn	p.P74S	ENST00000312371.4	37	c.220	CCDS34589.1	7	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180821	0.78677	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.18174	2.23;2.23	4.34	4.34	0.51931	.	0.000000	0.64402	D	0.000007	T	0.43033	0.1229	M	0.78049	2.395	0.46279	D	0.998966	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.44236	-0.9341	10	0.54805	T	0.06	-19.0328	15.04	0.71781	0.0:1.0:0.0:0.0	.	74;74	B3KRS0;Q400G9	.;AMZ1_HUMAN	S	74	ENSP00000308149:P74S;ENSP00000386020:P74S	ENSP00000308149:P74S	P	+	1	0	AMZ1	2706831	0.998000	0.40836	0.895000	0.35142	0.847000	0.48162	5.435000	0.66532	1.969000	0.57287	0.561000	0.74099	CCC	AMZ1	-	NULL		0.667	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ1	HGNC	protein_coding	OTTHUMT00000325244.1	C	NM_133463		2740305	1	no_errors	ENST00000312371	ensembl	human	known	70_37	missense	SNP	0.998	T	T	2740305	C	T	2740305	3	4	170	1	0	0	0	0	1	0	0	0	596	855	30	1	222	1	AMZ1	7	2740305	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		2740305	156398358	25	32286										
FERD3L	222894	genome.wustl.edu	37	chr7	19184752	19184752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	cctcttccgcgctcctcttcCtcctcctcttctccgtcccc	3	24	4	0	rs73079402		TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr7:19184752C>T	ENST00000275461.3	-	1	292	c.234G>A	c.(232-234)gaG>gaA	p.E78E	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	78	Poly-Glu.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						gctcctcttcctcctcctctt	0.627																																																	0													71	51	58					7																	19184752		2203	4300	6503	SO:0001819	synonymous_variant	222894			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.234G>A	7.37:g.19184752C>T			Q495K0	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E78	ENST00000275461.3	37	c.234	CCDS5368.1	7																																																																																			FERD3L	-	NULL		0.627	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	C			19184752	-1	no_errors	ENST00000275461	ensembl	human	known	70_37	silent	SNP	0.998	T	T	19184752	C	T	19184752	2	4	170	1	0	0	0	0	0	0	0	1	5834	680	24	4		4	FERD3L	7	19184752	Silent	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	16444447	19184752	139953911	26	32287										
SSPO	23145	genome.wustl.edu	37	chr7	149508049	149508049	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	ctgcccctgtgcccacgaggGgcacctctaccccccgggca	11	20	1	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr7:149508049G>A	ENST00000378016.2	+	0	9443							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCACGAGGGGCACCTCTAC	0.612																																																	0													47	55	52					7																	149508049		1956	4144	6100			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149508049G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.612	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149508049	1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	0.862	A	A	149508049	G	A	149508049	1	1	170	0	1	0	0	0	0	0	0	0	15219	1232	43	4		4	SSPO	7	149508049	RNA	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	130323297	149508049	9630614	27	32288										
PTK2B	2185	genome.wustl.edu	37	chr8	27294966	27294966	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tgaagctgatcggcatcattGaagaggagcccacctggatc	12	10	1	4	rs267601879		TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr8:27294966G>A	ENST00000397501.1	+	22	2288	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	PTK2B_ENST00000544172.1_Missense_Mutation_p.E494K|PTK2B_ENST00000397497.4_Missense_Mutation_p.E240K|PTK2B_ENST00000517339.1_Missense_Mutation_p.E494K|PTK2B_ENST00000420218.2_Missense_Mutation_p.E494K|PTK2B_ENST00000346049.5_Missense_Mutation_p.E494K|PTK2B_ENST00000338238.4_Missense_Mutation_p.E494K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.E494K(1)|p.E240K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CGGCATCATTGAAGAGGAGCC	0.572																																																	2	Substitution - Missense(2)	skin(2)											102	83	89					8																	27294966		2203	4300	6503	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1480G>A	8.37:g.27294966G>A	ENSP00000380638:p.Glu494Lys		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E494K	ENST00000397501.1	37	c.1480	CCDS6057.1	8	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606663	0.87157	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.75	3.98	0.46160	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.043507	0.85682	N	0.000000	T	0.78110	0.4232	L	0.44542	1.39	0.58432	D	0.999995	B;B;B	0.34399	0.452;0.103;0.029	B;B;B	0.37943	0.261;0.048;0.01	T	0.75921	-0.3147	10	0.59425	D	0.04	.	10.4118	0.44299	0.1588:0.0:0.8412:0.0	.	240;494;494	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	K	494;499;494;494;494;494;494;240	ENSP00000380638:E494K;ENSP00000342242:E494K;ENSP00000440926:E494K;ENSP00000332816:E494K;ENSP00000391995:E494K;ENSP00000427931:E494K;ENSP00000380634:E240K	ENSP00000342242:E494K	E	+	1	0	PTK2B	27350883	0.999000	0.42202	0.912000	0.35992	0.958000	0.62258	3.374000	0.52402	0.799000	0.34018	0.561000	0.74099	GAA	PTK2B	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.572	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	G	NM_004103		27294966	1	no_errors	ENST00000346049	ensembl	human	known	70_37	missense	SNP	0.983	A	A	27294966	G	A	27294966	3	1	170	1	0	0	0	0	1	0	0	0	12791	1291	45	1	1542	1	PTK2B	8	27294966	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09		27294966	119069056	28	32289										
CHD7	55636	genome.wustl.edu	37	chr8	61778087	61778087	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tctgagaaaagcacagatgcTgtttcggctgctgactctgc	11	10	2	3			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr8:61778087T>C	ENST00000423902.2	+	38	9068	c.8589T>C	c.(8587-8589)gcT>gcC	p.A2863A	CHD7_ENST00000524602.1_Silent_p.A814A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2863					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCACAGATGCTGTTTCGGCTG	0.507																																																	0													94	103	100					8																	61778087		2136	4244	6380	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8589T>C	8.37:g.61778087T>C			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A2863	ENST00000423902.2	37	c.8589	CCDS47865.1	8																																																																																			CHD7	-	NULL		0.507	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	T	XM_098762		61778087	1	no_errors	ENST00000307121	ensembl	human	known	70_37	silent	SNP	1.000	C	C	61778087	T	C	61778087	2	2	170	1	0	0	0	0	0	0	0	1	3335	1567	55	5		5	CHD7	8	61778087	Silent	SNP	T	TCGA-LP-A4AX-01A-12D-A243-09	34483121	61778087	84585935	29	32290										
EYA1	2138	genome.wustl.edu	37	chr8	72129214	72129214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gctcaccttaggtcctgtccGttatcatctgaagaaacatc	7	12	3	2	rs372488542		TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr8:72129214G>A	ENST00000340726.3	-	13	1824	c.1185C>T	c.(1183-1185)aaC>aaT	p.N395N	EYA1_ENST00000388742.4_Silent_p.N395N|EYA1_ENST00000388741.2_Silent_p.N361N|EYA1_ENST00000419131.1_Silent_p.N360N|EYA1_ENST00000388743.2_Silent_p.N394N|EYA1_ENST00000303824.7_Silent_p.N389N|EYA1_ENST00000388740.3_Silent_p.N362N	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	395					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGTCCTGTCCGTTATCATCTG	0.343																																																	0								G	,,,	0,4406		0,0,2203	136	128	131		1185,1185,1080,1086	-5.5	0.9	8		131	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	,,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,,	395/593,395/593,360/558,362/560	72129214	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1185C>T	8.37:g.72129214G>A			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.N395	ENST00000340726.3	37	c.1185	CCDS34906.1	8																																																																																			EYA1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA		0.343	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	G	NM_000503, NM_172060		72129214	-1	no_errors	ENST00000340726	ensembl	human	known	70_37	silent	SNP	0.832	A	A	72129214	G	A	72129214	2	1	170	1	0	0	0	0	0	0	0	1	5340	1136	40	2		2	EYA1	8	72129214	Silent	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	10351127	72129214	74234808	30	32291										
ZFHX4	79776	genome.wustl.edu	37	chr8	77763451	77763451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	caatgtgtaacctctgccagCgcagtttccgtacattccag	8	13	1	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr8:77763451C>T	ENST00000521891.2	+	10	4742	c.4294C>T	c.(4294-4296)Cgc>Tgc	p.R1432C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1387C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1387C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1406C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCTGCCAGCGCAGTTTCCG	0.468										HNSCC(33;0.089)																																							0													45	42	43					8																	77763451		1927	4143	6070	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4294C>T	8.37:g.77763451C>T	ENSP00000430497:p.Arg1432Cys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R1432C	ENST00000521891.2	37	c.4294	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420324	0.62622	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.44902	U	0.000408	T	0.56992	0.2023	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	T	0.60954	-0.7160	10	0.87932	D	0	.	18.4109	0.90550	0.0:1.0:0.0:0.0	.	1387;1387;1432	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	1432;1432;1387;1387;1406	ENSP00000430497:R1432C;ENSP00000399605:R1387C;ENSP00000050961:R1387C;ENSP00000430848:R1406C	ENSP00000050961:R1387C	R	+	1	0	ZFHX4	77926006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.819000	0.62664	2.589000	0.87451	0.549000	0.68633	CGC	ZFHX4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77763451	1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77763451	C	T	77763451	3	4	170	1	0	0	0	0	1	0	0	0	17665	768	27	2	4328	2	ZFHX4	8	77763451	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	5634237	77763451	68600571	31	32292										
RUNX1T1	862	genome.wustl.edu	37	chr8	92982945	92982945	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gtcctccgccgcctgccgttTggcctcggcgaccgtgcgct	13	18	0	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr8:92982945T>A	ENST00000523629.1	-	11	1934	c.1480A>T	c.(1480-1482)Aaa>Taa	p.K494*	RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.K457*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.K467*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.K467*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.K457*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.K494*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.K457*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.K505*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	494					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCTGCCGTTTGGCCTCGGCG	0.572																																																	0													66	58	61					8																	92982945		2203	4300	6503	SO:0001587	stop_gained	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1480A>T	8.37:g.92982945T>A	ENSP00000428543:p.Lys494*		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.K505*	ENST00000523629.1	37	c.1513	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	T	36	5.953206	0.97139	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	.	.	.	5.77	5.77	0.91146	.	0.042368	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6836	16.099	0.81152	0.0:0.0:0.0:1.0	.	.	.	.	X	494;467;494;457;457;457;505;467	.	ENSP00000265814:K494X	K	-	1	0	RUNX1T1	93052121	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	8.040000	0.89188	2.203000	0.70933	0.533000	0.62120	AAA	RUNX1T1	-	NULL		0.572	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	T	NM_004349, NM_175635		92982945	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	92982945	T	A	92982945	4	1	170	1	0	0	0	0	0	1	0	0	13777	1821	63	5	342	5	RUNX1T1	8	92982945	Nonsense_Mutation	SNP	T	TCGA-LP-A4AX-01A-12D-A243-09	15219494	92982945	53381077	32	32293										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110476533	110476533	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	acagtttaaatcttatgtaaGaggctgtgcaattcaccagg	9	7	2	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr8:110476533G>A	ENST00000378402.5	+	49	7576	c.7472G>A	c.(7471-7473)aGa>aAa	p.R2491K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2491					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R2493T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTATGTAAGAGGCTGTGCA	0.428										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	lung(1)											57	55	56					8																	110476533		1868	4104	5972	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7472G>A	8.37:g.110476533G>A	ENSP00000367655:p.Arg2491Lys		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.R2491K	ENST00000378402.5	37	c.7472	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446353	0.43429	.	.	ENSG00000205038	ENST00000378402	D	0.92752	-3.1	5.64	1.42	0.22433	Pectin lyase fold/virulence factor (1);	0.125321	0.49916	N	0.000122	D	0.83211	0.5205	N	0.21324	0.655	0.23282	N	0.997988	B	0.06786	0.001	B	0.12837	0.008	T	0.67768	-0.5585	10	0.25751	T	0.34	.	8.6834	0.34223	0.3619:0.0:0.6381:0.0	.	2491	Q86WI1	PKHL1_HUMAN	K	2491	ENSP00000367655:R2491K	ENSP00000367655:R2491K	R	+	2	0	PKHD1L1	110545709	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	2.387000	0.44389	-0.031000	0.13781	0.650000	0.86243	AGA	PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence		0.428	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110476533	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110476533	G	A	110476533	3	1	170	1	0	0	0	0	1	0	0	0	11996	942	33	1	7666	1	PKHD1L1	8	110476533	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	17493588	110476533	35887489	33	32294										
RAD21	5885	genome.wustl.edu	37	chr8	117868503	117868503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	ttggttcaacgggatccactGaatcaggactatcaggccca	10	11	3	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr8:117868503G>A	ENST00000297338.2	-	8	1126	c.839C>T	c.(838-840)tCa>tTa	p.S280L	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	280		Cleavage; by caspase-3 or caspase-7.			apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GGGATCCACTGAATCAGGACT	0.383																																																	0													122	110	114					8																	117868503		2203	4300	6503	SO:0001583	missense	5885			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.839C>T	8.37:g.117868503G>A	ENSP00000297338:p.Ser280Leu		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.S280L	ENST00000297338.2	37	c.839	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068577	0.76301	.	.	ENSG00000164754	ENST00000297338	T	0.55413	0.52	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	L	0.52905	1.665	0.80722	D	1	B	0.18310	0.027	B	0.18263	0.021	T	0.42916	-0.9423	10	0.27082	T	0.32	-1.075	19.6408	0.95757	0.0:0.0:1.0:0.0	.	280	O60216	RAD21_HUMAN	L	280	ENSP00000297338:S280L	ENSP00000297338:S280L	S	-	2	0	RAD21	117937684	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.780000	0.99024	2.643000	0.89663	0.650000	0.86243	TCA	RAD21	-	NULL		0.383	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	G	NM_006265		117868503	-1	no_errors	ENST00000297338	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117868503	G	A	117868503	3	1	170	1	0	0	0	0	1	0	0	0	13011	1294	45	1	1084	1	RAD21	8	117868503	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	7391970	117868503	28495519	34	32295										
NET1	10276	genome.wustl.edu	37	chr10	5493809	5493809	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	ataggagccaagcaataaaaGagttcgacctctggctcgtg	11	9	1	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr10:5493809G>C	ENST00000355029.4	+	4	414	c.272G>C	c.(271-273)aGa>aCa	p.R91T	NET1_ENST00000380359.3_Missense_Mutation_p.R37T|NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	91					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGCAATAAAAGAGTTCGACCT	0.393																																																	0													160	167	165					10																	5493809		2203	4300	6503	SO:0001583	missense	10276			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.272G>C	10.37:g.5493809G>C	ENSP00000347134:p.Arg91Thr		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R91T	ENST00000355029.4	37	c.272	CCDS41483.1	10	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634008	0.87660	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.18016	2.24;2.31	5.83	5.83	0.93111	.	0.000000	0.46145	D	0.000320	T	0.47488	0.1448	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.46005	-0.9222	10	0.87932	D	0	-23.0059	18.7012	0.91620	0.0:0.0:1.0:0.0	.	37;91	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	91;37	ENSP00000347134:R91T;ENSP00000369717:R37T	ENSP00000347134:R91T	R	+	2	0	NET1	5483809	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.415000	0.97375	2.763000	0.94921	0.563000	0.77884	AGA	NET1	-	NULL		0.393	NET1-005	KNOWN	basic|CCDS	protein_coding	NET1	HGNC	protein_coding	OTTHUMT00000046553.3	G	NM_005863		5493809	1	no_errors	ENST00000355029	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5493809	G	C	5493809	3	2	170	1	0	0	0	0	1	0	0	0	10362	942	33	1	383	1	NET1	10	5493809	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09		5493809	130040938	35	32296										
XRRA1	254225	genome.wustl.edu	37	chr11	74554326	74554326	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tggccgaacttgggctggctCtcactcagcgctgggcaggc	15	13	2	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr11:74554326C>G	ENST00000299563.4	+	0	7823				XRRA1_ENST00000340360.6_Missense_Mutation_p.E766D|XRRA1_ENST00000321448.8_Missense_Mutation_p.E491D|XRRA1_ENST00000527087.1_3'UTR|RN7SL239P_ENST00000490061.2_RNA	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TGGGCTGGCTCTCACTCAGCG	0.617																																																	0													33	40	38					11																	74554326		2121	4233	6354	SO:0001628	intergenic_variant	143570			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74554326C>G			Q6N015	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E766D	ENST00000299563.4	37	c.2298	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249788	0.59212	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418	T;T	0.54866	0.55;1.29	4.71	-0.902	0.10537	.	.	.	.	.	T	0.38188	0.1031	L	0.57536	1.79	0.09310	N	1	B;P;P;P	0.44816	0.421;0.718;0.844;0.718	B;B;B;B	0.38500	0.073;0.152;0.275;0.152	T	0.26677	-1.0096	9	0.33141	T	0.24	-3.3433	0.7543	0.00996	0.3111:0.335:0.1633:0.1907	.	766;710;376;752	Q6P2D8;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.	D	766;491;752;710	ENSP00000339918:E766D;ENSP00000319303:E491D	ENSP00000319303:E491D	E	-	3	2	XRRA1	74231974	0.000000	0.05858	0.000000	0.03702	0.296000	0.27459	-0.271000	0.08572	-0.024000	0.13941	0.563000	0.77884	GAG	XRRA1	-	NULL		0.617	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384741.1	C	XM_495886		74554326	-1	no_errors	ENST00000340360	ensembl	human	known	70_37	missense	SNP	0.000	G	G	74554326	C	G	74554326	1	3	170	0	1	0	0	0	0	0	0	0	17492	912	32	1		1	XRRA1	11	74554326	IGR	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		74554326	60452190	36	32297										
FRY	10129	genome.wustl.edu	37	chr13	32691498	32691498	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gctcaatgagctccctttctGagtactgcctgccttccatt	7	14	2	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr13:32691498G>A	ENST00000380250.3	+	4	848	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	118						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCCCTTTCTGAGTACTGCCT	0.403																																																	0													92	88	89					13																	32691498		1910	4142	6052	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.352G>A	13.37:g.32691498G>A	ENSP00000369600:p.Glu118Lys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E118K	ENST00000380250.3	37	c.352	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.420335	0.96111	.	.	ENSG00000073910	ENST00000380250;ENST00000436046;ENST00000267067	T	0.24151	1.87	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	M	0.84082	2.675	0.80722	D	1	P	0.40875	0.731	P	0.46479	0.518	T	0.53429	-0.8440	10	0.87932	D	0	.	18.9435	0.92612	0.0:0.0:1.0:0.0	.	118	Q5TBA9	FRY_HUMAN	K	118;115;84	ENSP00000369600:E118K	ENSP00000267067:E84K	E	+	1	0	FRY	31589498	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.311000	0.96282	2.533000	0.85409	0.655000	0.94253	GAG	FRY	-	NULL		0.403	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32691498	1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32691498	G	A	32691498	3	1	170	1	0	0	0	0	1	0	0	0	6081	1291	45	1	366	1	FRY	13	32691498	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09		32691498	82478380	37	32298										
SPTLC2	9517	genome.wustl.edu	37	chr14	78045425	78045425	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	attccttgtataaaagttttCaaaatcttgatacaatgaca	4	6	2	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr14:78045425C>T	ENST00000216484.2	-	3	548	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	119					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	TAAAAGTTTTCAAAATCTTGA	0.368																																																	0													57	54	55					14																	78045425		2203	4300	6503	SO:0001583	missense	9517			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.355G>A	14.37:g.78045425C>T	ENSP00000216484:p.Glu119Lys		Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E119K	ENST00000216484.2	37	c.355	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.624065	0.96660	.	.	ENSG00000100596	ENST00000216484	T	0.70399	-0.48	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major domain (1);	0.044188	0.85682	D	0.000000	D	0.83727	0.5317	M	0.75150	2.29	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	D	0.85007	0.0903	10	0.66056	D	0.02	-22.5916	19.4336	0.94781	0.0:1.0:0.0:0.0	.	119	O15270	SPTC2_HUMAN	K	119	ENSP00000216484:E119K	ENSP00000216484:E119K	E	-	1	0	SPTLC2	77115178	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.713000	0.84693	2.591000	0.87537	0.561000	0.74099	GAA	SPTLC2	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.368	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	C	NM_004863		78045425	-1	no_errors	ENST00000216484	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78045425	C	T	78045425	3	4	170	1	0	0	0	0	1	0	0	0	15154	835	29	1	1373	1	SPTLC2	14	78045425	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		78045425	29304115	38	32299										
TTC8	123016	genome.wustl.edu	37	chr14	89300049	89300049	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	ctttccaggaaccagatcctGaattgccagtgcatcaggta	9	11	1	2	rs546198909		TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr14:89300049G>A	ENST00000380656.2	+	2	173	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	TTC8_ENST00000346301.4_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000345383.5_Intron|TTC8_ENST00000338104.6_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	43			Missing (in RP51).		axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACCAGATCCTGAATTGCCAGT	0.338													G|||	1	0.000199681	0	0	5008	,	,		18337	0.001		0	False		,,,				2504	0																0													114	112	112					14																	89300049		2203	4300	6503	SO:0001583	missense	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000380656.2:c.127G>A	14.37:g.89300049G>A	ENSP00000370031:p.Glu43Lys		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E43K	ENST00000380656.2	37	c.127	CCDS32137.1	14	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383077	0.25031	.	.	ENSG00000165533	ENST00000380656	T	0.76316	-1.01	5.79	5.79	0.91817	.	.	.	.	.	T	0.59266	0.2181	N	0.12182	0.205	0.80722	D	1	B	0.16396	0.017	B	0.16289	0.015	T	0.56691	-0.7937	9	0.06236	T	0.91	.	15.5324	0.75974	0.0:0.0:1.0:0.0	.	43	Q8TAM2-4	.	K	43	ENSP00000370031:E43K	ENSP00000370031:E43K	E	+	1	0	TTC8	88369802	0.991000	0.36638	0.635000	0.29338	0.974000	0.67602	3.511000	0.53400	2.736000	0.93811	0.561000	0.74099	GAA	TTC8	-	NULL		0.338	TTC8-008	KNOWN	basic|CCDS	protein_coding	TTC8	HGNC	protein_coding	OTTHUMT00000410866.1	G	NM_144596		89300049	1	no_errors	ENST00000380656	ensembl	human	known	70_37	missense	SNP	0.916	A	A	89300049	G	A	89300049	3	1	170	1	0	0	0	0	1	0	0	0	16745	1291	45	1	133	1	TTC8	14	89300049	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	11254624	89300049	18049491	39	32300										
ATG2B	55102	genome.wustl.edu	37	chr14	96811053	96811053	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tctggcacatgttcaattctCaaaacagtatctataaaagt	5	8	4	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr14:96811053C>G	ENST00000359933.4	-	4	1412	c.519G>C	c.(517-519)ttG>ttC	p.L173F		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	173					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTTCAATTCTCAAAACAGTAT	0.313																																																	0													55	51	52					14																	96811053		1801	4056	5857	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.519G>C	14.37:g.96811053C>G	ENSP00000353010:p.Leu173Phe		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.L173F	ENST00000359933.4	37	c.519	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148788	0.37923	.	.	ENSG00000066739	ENST00000359933	T	0.57752	0.38	5.66	4.76	0.60689	.	0.204275	0.32533	U	0.005962	T	0.28632	0.0709	N	0.04636	-0.2	0.38580	D	0.950166	B	0.15141	0.012	B	0.11329	0.006	T	0.12708	-1.0537	10	0.33940	T	0.23	.	9.3375	0.38060	0.2476:0.6848:0.0:0.0676	.	173	Q96BY7	ATG2B_HUMAN	F	173	ENSP00000353010:L173F	ENSP00000353010:L173F	L	-	3	2	ATG2B	95880806	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.248000	0.32827	1.498000	0.48600	0.655000	0.94253	TTG	ATG2B	-	NULL		0.313	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96811053	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96811053	C	G	96811053	3	3	170	1	0	0	0	0	1	0	0	0	1095	825	29	1	5873	1	ATG2B	14	96811053	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	7511004	96811053	10538487	40	32301										
MYO5C	55930	genome.wustl.edu	37	chr15	52513369	52513369	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tttcagttacctttcattttCtcagcttgttcattcaggcg	6	10	5	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr15:52513369C>G	ENST00000261839.7	-	30	3872	c.3711G>C	c.(3709-3711)gaG>gaC	p.E1237D		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1237						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTTTCATTTTCTCAGCTTGTT	0.383																																																	0													115	106	109					15																	52513369		1830	4074	5904	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3711G>C	15.37:g.52513369C>G	ENSP00000261839:p.Glu1237Asp		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1237D	ENST00000261839.7	37	c.3711	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	C	8.374	0.835946	0.16820	.	.	ENSG00000128833	ENST00000261839	T	0.17054	2.3	5.19	3.11	0.35812	.	0.222920	0.41294	D	0.000909	T	0.07863	0.0197	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25187	-1.0139	10	0.13470	T	0.59	.	6.0445	0.19752	0.0:0.3406:0.0:0.6594	.	1237	Q9NQX4	MYO5C_HUMAN	D	1237	ENSP00000261839:E1237D	ENSP00000261839:E1237D	E	-	3	2	MYO5C	50300661	0.248000	0.23930	0.930000	0.37139	0.653000	0.38743	0.393000	0.20817	0.624000	0.30286	-0.142000	0.14014	GAG	MYO5C	-	NULL		0.383	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	C	NM_018728		52513369	-1	no_errors	ENST00000261839	ensembl	human	known	70_37	missense	SNP	0.930	G	G	52513369	C	G	52513369	3	3	170	1	0	0	0	0	1	0	0	0	10103	912	32	1	1565	1	MYO5C	15	52513369	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		52513369	50018023	41	32302										
ARNT2	9915	genome.wustl.edu	37	chr15	80762742	80762742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gggaacaagtccaccgatggCgcgtacaagccttccttcct	10	14	0	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr15:80762742C>T	ENST00000303329.4	+	4	543	c.378C>T	c.(376-378)ggC>ggT	p.G126G	ARNT2_ENST00000527771.1_Silent_p.G115G|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Silent_p.G115G	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	126					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCACCGATGGCGCGTACAAGC	0.572																																																	0													101	72	82					15																	80762742		2203	4300	6503	SO:0001819	synonymous_variant	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.378C>T	15.37:g.80762742C>T			B4DIS7|O15024|Q8IYC2	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.G126	ENST00000303329.4	37	c.378	CCDS32307.1	15																																																																																			ARNT2	-	superfamily_HLH_dom		0.572	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARNT2	HGNC	protein_coding	OTTHUMT00000384389.2	C			80762742	1	no_errors	ENST00000303329	ensembl	human	known	70_37	silent	SNP	0.998	T	T	80762742	C	T	80762742	2	4	170	1	0	0	0	0	0	0	0	1	967	755	27	2		2	ARNT2	15	80762742	Silent	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	28249373	80762742	21768650	42	32303										
ST3GAL2	6483	genome.wustl.edu	37	chr16	70416789	70416789	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tgatgctctgtccacctgtcGtggatatacttgaagaaggc	11	9	1	3	rs143187183		TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr16:70416789G>C	ENST00000393640.4	-	5	2905	c.798C>G	c.(796-798)caC>caG	p.H266Q	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.H266Q			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	266					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCCACCTGTCGTGGATATACT	0.552																																																	0													115	91	99					16																	70416789		2198	4300	6498	SO:0001583	missense	6483			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"Sialyltransferases"	10863	protein-coding gene	gene with protein product		607188	"sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.798C>G	16.37:g.70416789G>C	ENSP00000377257:p.His266Gln		O00654	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.H266Q	ENST00000393640.4	37	c.798	CCDS10890.1	16	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904309	0.52333	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.28255	1.62;1.62	5.34	-10.5	0.00291	.	0.098719	0.64402	D	0.000001	T	0.37544	0.1007	L	0.55481	1.735	0.44635	D	0.997616	D	0.63046	0.992	P	0.60789	0.879	T	0.75741	-0.3211	10	0.27785	T	0.31	-16.376	18.4491	0.90696	0.6349:0.0:0.3651:0.0	.	266	Q16842	SIA4B_HUMAN	Q	266	ENSP00000345477:H266Q;ENSP00000377257:H266Q	ENSP00000345477:H266Q	H	-	3	2	ST3GAL2	68974290	0.002000	0.14202	0.323000	0.25347	0.656000	0.38851	-1.134000	0.03228	-2.416000	0.00567	-2.049000	0.00408	CAC	ST3GAL2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.552	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL2	HGNC	protein_coding	OTTHUMT00000268968.1	G	NM_006927		70416789	-1	no_errors	ENST00000342907	ensembl	human	known	70_37	missense	SNP	0.337	C	C	70416789	G	C	70416789	3	2	170	1	0	0	0	0	1	0	0	0	15245	1136	40	2	262	2	ST3GAL2	16	70416789	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09		70416789	19937964	43	32304										
INPP5K	51763	genome.wustl.edu	37	chr17	1416809	1416809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gctccacgagtcattaaaggCagcatcggaaaggaggctta	12	9	1	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr17:1416809C>T	ENST00000421807.2	-	3	587	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	INPP5K_ENST00000406424.4_5'UTR|INPP5K_ENST00000320345.6_5'UTR|INPP5K_ENST00000397335.3_Intron|INPP5K_ENST00000542125.1_Missense_Mutation_p.A67T	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	67	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCATTAAAGGCAGCATCGGAA	0.517																																																	0													211	193	199					17																	1416809		2203	4300	6503	SO:0001583	missense	51763				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.199G>A	17.37:g.1416809C>T	ENSP00000413937:p.Ala67Thr		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.A67T	ENST00000421807.2	37	c.199	CCDS11004.1	17	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639940	0.67244	.	.	ENSG00000132376	ENST00000350761;ENST00000542125	D	0.97710	-4.5	5.72	4.73	0.59995	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.182306	0.47852	D	0.000218	D	0.97427	0.9158	L	0.49778	1.585	0.80722	D	1	P;P	0.51240	0.908;0.943	P;P	0.57009	0.575;0.811	D	0.96637	0.9471	10	0.33940	T	0.23	-20.457	14.5756	0.68243	0.1472:0.8528:0.0:0.0	.	67;67	F5GXZ0;Q9BT40	.;INP5K_HUMAN	T	67	ENSP00000440147:A67T	ENSP00000254712:A67T	A	-	1	0	INPP5K	1363559	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	0.852000	0.27764	1.358000	0.45922	0.462000	0.41574	GCC	INPP5K	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.517	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5K	HGNC	protein_coding	OTTHUMT00000319381.4	C			1416809	-1	no_errors	ENST00000421807	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1416809	C	T	1416809	3	4	170	1	0	0	0	0	1	0	0	0	7780	710	25	4	1187	4	INPP5K	17	1416809	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		1416809	79778401	44	32305										
MYH10	4628	genome.wustl.edu	37	chr17	8381716	8381716	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	acctgcatgaagatttctttCagcttcttctcagtgcgacg	8	11	4	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr17:8381716C>T	ENST00000269243.4	-	39	5691	c.5553G>A	c.(5551-5553)ctG>ctA	p.L1851L	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000360416.3_Silent_p.L1882L|MYH10_ENST00000396239.1_Silent_p.L1872L|MYH10_ENST00000379980.4_Silent_p.L1867L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1851					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGATTTCTTTCAGCTTCTTCT	0.493																																																	0													162	136	144					17																	8381716		2203	4300	6503	SO:0001819	synonymous_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5553G>A	17.37:g.8381716C>T			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1872	ENST00000269243.4	37	c.5616	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_tail,superfamily_HR1_rho-bd		0.493	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8381716	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8381716	C	T	8381716	2	4	170	1	0	0	0	0	0	0	0	1	10053	813	29	1		1	MYH10	17	8381716	Silent	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	6964907	8381716	72813494	45	32306										
FOXN1	8456	genome.wustl.edu	37	chr17	26851603	26851603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	actgcccccacacagcccccGcattgcgtcaccagggcccg	9	21	1	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr17:26851603G>T	ENST00000226247.2	+	2	235	c.206G>T	c.(205-207)cGc>cTc	p.R69L	FOXN1_ENST00000579795.1_Missense_Mutation_p.R69L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	69			R -> C (in dbSNP:rs2071587).		defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R69H(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CACAGCCCCCGCATTGCGTCA	0.647																																																	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)											44	48	47					17																	26851603		2203	4300	6503	SO:0001583	missense	8456			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.206G>T	17.37:g.26851603G>T	ENSP00000226247:p.Arg69Leu		B2R9Q7|O15352	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R69L	ENST00000226247.2	37	c.206	CCDS11232.1	17	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827014	0.50739	.	.	ENSG00000109101	ENST00000226247	D	0.92249	-3.0	5.54	5.54	0.83059	.	0.063200	0.64402	D	0.000002	D	0.84515	0.5489	N	0.08118	0	0.29529	N	0.85291	B	0.02656	0.0	B	0.01281	0.0	T	0.79157	-0.1919	10	0.72032	D	0.01	.	16.5484	0.84457	0.0:0.0:1.0:0.0	.	69	O15353	FOXN1_HUMAN	L	69	ENSP00000226247:R69L	ENSP00000226247:R69L	R	+	2	0	FOXN1	23875730	0.965000	0.33210	0.972000	0.41901	0.368000	0.29767	1.535000	0.36061	2.768000	0.95171	0.561000	0.74099	CGC	FOXN1	-	NULL		0.647	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	G			26851603	1	no_errors	ENST00000226247	ensembl	human	known	70_37	missense	SNP	0.998	T	T	26851603	G	T	26851603	3	4	170	1	0	0	0	0	1	0	0	0	6037	1087	38	2	212	2	FOXN1	17	26851603	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	18469887	26851603	54343607	46	32307										
C17orf42	79736	genome.wustl.edu	37	chr17	29227461	29227461	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tagactgatgatgagtatatTcctctcattaaactccaacg	6	9	1	4			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr17:29227461T>G	ENST00000581216.1	-	3	1236	c.615A>C	c.(613-615)ggA>ggC	p.G205G	TEFM_ENST00000580840.1_Silent_p.G205G|TEFM_ENST00000579183.1_5'Flank	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	205					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										ATGAGTATATTCCTCTCATTA	0.448																																																	0													106	101	103					17																	29227461		1900	4125	6025	SO:0001819	synonymous_variant	79736				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 42"	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.615A>C	17.37:g.29227461T>G			E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	superfamily_RNaseH-like_dom	p.G205	ENST00000581216.1	37	c.615	CCDS42291.1	17																																																																																			TEFM	-	superfamily_RNaseH-like_dom		0.448	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	T	NM_024683		29227461	-1	no_errors	ENST00000581216	ensembl	human	known	70_37	silent	SNP	0.988	G	G	29227461	T	G	29227461	2	3	170	1	0	0	0	0	0	0	0	1	1860	1770	62	5		5	C17orf42	17	29227461	Silent	SNP	T	TCGA-LP-A4AX-01A-12D-A243-09	2375858	29227461	51967749	47	32308										
TOP2A	7153	genome.wustl.edu	37	chr17	38562885	38562885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tgatttggagtagaactcttCcactcttcaaattcaggaag	8	8	4	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr17:38562885C>A	ENST00000423485.1	-	15	1952	c.1794G>T	c.(1792-1794)tgG>tgT	p.W598C		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	598					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TAGAACTCTTCCACTCTTCAA	0.343																																																	0													134	128	130					17																	38562885		1802	4070	5872	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1794G>T	17.37:g.38562885C>A	ENSP00000411532:p.Trp598Cys		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.W598C	ENST00000423485.1	37	c.1794	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936778	0.34189	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.26373	1.74	5.51	4.53	0.55603	DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.114382	0.64402	D	0.000004	T	0.64940	0.2644	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79315	-0.1854	10	0.87932	D	0	.	16.6657	0.85253	0.0:0.8701:0.1299:0.0	.	598	P11388	TOP2A_HUMAN	C	598;678;621;634	ENSP00000411532:W598C	ENSP00000269577:W678C	W	-	3	0	TOP2A	35816411	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	7.750000	0.85110	1.455000	0.47813	-0.182000	0.12963	TGG	TOP2A	-	superfamily_Topo_IIA_cen,smart_Topo_IIA		0.343	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	C			38562885	-1	no_errors	ENST00000423485	ensembl	human	known	70_37	missense	SNP	1.000	A	A	38562885	C	A	38562885	3	1	170	1	0	0	0	0	1	0	0	0	16396	856	30	3	2885	3	TOP2A	17	38562885	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	9335424	38562885	42632325	48	32309										
KRT10	3858	genome.wustl.edu	37	chr17	38975036	38975037	+	Intron	INS	-	-	ACCT													0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	accccagctagtttctgctgINSaccttggtcccttagatgaa							TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr17:38975036_38975037insACCT	ENST00000269576.5	-	7	1758				TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10						cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AGTTTCTGCTGACCTTGGTCCC	0.495																																																	0																																										SO:0001627	intron_variant	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1748+1->AGGT	17.37:g.38975037_38975040dupACCT			Q14664|Q8N175	Splice_Site	INS	-	e7+2	ENST00000269576.5	37	c.1748+2_1748+1	CCDS11377.1	17																																																																																			KRT10	-	-		0.495	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	-	NM_000421		38975037	-1	no_errors	ENST00000269576	ensembl	human	known	70_37	splice_site_ins	INS	1.000:1.000	ACCT	ACCT	38975037	-	ACCT	38975036	6	5	170	0	1	1	1	0	0	0	0	0	8468	1305	45	0		0	KRT10	17	38975036	Intron	INS	-	TCGA-LP-A4AX-01A-12D-A243-09	412151	38975036	42220174	49	32310										
PSMD12	5718	genome.wustl.edu	37	chr17	65337163	65337163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	agatttgagagaaaggcttcGgactcctgcaagagagaaag	13	6	0	5			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr17:65337163G>A	ENST00000356126.3	-	11	1274	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	PSMD12_ENST00000357146.4_Silent_p.S369S	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	389	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAAAGGCTTCGGACTCCTGCA	0.358																																																	0													53	54	54					17																	65337163		2203	4300	6503	SO:0001819	synonymous_variant	5718			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1167C>T	17.37:g.65337163G>A			A6NP15|Q53HA2|Q6P053	Silent	SNP	pfam_PCI_dom,smart_PCI_dom	p.S389	ENST00000356126.3	37	c.1167	CCDS11669.1	17																																																																																			PSMD12	-	pfam_PCI_dom,smart_PCI_dom		0.358	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD12	HGNC	protein_coding	OTTHUMT00000277103.1	G	NM_002816, NM_174871		65337163	-1	no_errors	ENST00000356126	ensembl	human	known	70_37	silent	SNP	0.976	A	A	65337163	G	A	65337163	2	1	170	1	0	0	0	0	0	0	0	1	12722	1103	39	2		2	PSMD12	17	65337163	Silent	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	26362127	65337163	15858047	50	32311										
DNAI2	64446	genome.wustl.edu	37	chr17	72285876	72285876	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	ttcatacatctgggacctggGtgagaagcagcggggtcctg	15	9	2	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr17:72285876G>T	ENST00000311014.6	+	5	677		c.e5+1		DNAI2_ENST00000582036.1_Splice_Site|DNAI2_ENST00000446837.2_Splice_Site|DNAI2_ENST00000307504.5_Splice_Site|DNAI2_ENST00000579490.1_Splice_Site			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2						cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGGACCTGGGTGAGAAGCAG	0.627									Kartagener syndrome																																								0													54	52	53					17																	72285876		2203	4300	6503	SO:0001630	splice_region_variant	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.610+1G>T	17.37:g.72285876G>T			C9J0S6|Q8IUW4|Q9H179|Q9NT53	Splice_Site	SNP	-	e4+1	ENST00000311014.6	37	c.610+1	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232568	0.79688	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6058	0.88037	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAI2	69797471	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.944000	0.92980	2.157000	0.67596	0.491000	0.48974	.	DNAI2	-	-		0.627	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	G	NM_023036	Intron	72285876	1	no_errors	ENST00000311014	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	72285876	G	T	72285876	5	4	170	1	0	0	0	0	0	0	1	0	4620	1275	44	4	625	4	DNAI2	17	72285876	Splice_Site	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	6948713	72285876	8909334	51	32312										
DOT1L	84444	genome.wustl.edu	37	chr19	2210818	2210818	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	cactggatgccctgcacgctCagaccgtgtctcagacggcg	12	15	2	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr19:2210818C>T	ENST00000398665.3	+	14	1351	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	439					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCACGCTCAGACCGTGTC	0.692																																																	0													33	42	39					19																	2210818		2010	4153	6163	SO:0001587	stop_gained	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1315C>T	19.37:g.2210818C>T	ENSP00000381657:p.Gln439*		O60379|Q96JL1	Nonsense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.Q439*	ENST00000398665.3	37	c.1315	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551658	0.86127	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	.	.	.	4.84	4.84	0.62591	.	0.173300	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6181	16.9353	0.86202	0.0:1.0:0.0:0.0	.	.	.	.	X	439	.	ENSP00000221482:Q439X	Q	+	1	0	DOT1L	2161818	1.000000	0.71417	0.094000	0.20943	0.356000	0.29392	4.592000	0.61027	2.222000	0.72286	0.561000	0.74099	CAG	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.692	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	C	NM_032482		2210818	1	no_errors	ENST00000398665	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	2210818	C	T	2210818	4	4	170	1	0	0	0	0	0	1	0	0	4719	827	29	1	1369	1	DOT1L	19	2210818	Nonsense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		2210818	56918165	52	32313										
LRFN1	57622	genome.wustl.edu	37	chr19	39805372	39805372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gctgcacgaaggtcccctccGcgatgtggtcgatgaggttg	15	11	0	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr19:39805372G>A	ENST00000248668.4	-	1	604	c.605C>T	c.(604-606)gCg>gTg	p.A202V	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	202						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTCCCCTCCGCGATGTGGTC	0.622																																																	0													44	54	51					19																	39805372		2161	4273	6434	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.605C>T	19.37:g.39805372G>A	ENSP00000248668:p.Ala202Val		Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A202V	ENST00000248668.4	37	c.605	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606014	0.66445	.	.	ENSG00000128011	ENST00000248668	T	0.57107	0.42	4.62	4.62	0.57501	.	0.000000	0.42682	D	0.000672	T	0.50463	0.1617	N	0.17474	0.49	0.35781	D	0.821658	D	0.56968	0.978	P	0.55161	0.77	T	0.63470	-0.6630	10	0.56958	D	0.05	.	14.9961	0.71433	0.0:0.0:1.0:0.0	.	202	Q9P244	LRFN1_HUMAN	V	202	ENSP00000248668:A202V	ENSP00000248668:A202V	A	-	2	0	LRFN1	44497212	0.339000	0.24784	0.995000	0.50966	0.988000	0.76386	2.698000	0.47068	2.395000	0.81488	0.555000	0.69702	GCG	LRFN1	-	smart_Leu-rich_rpt_typical-subtyp		0.622	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	G	NM_020862		39805372	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	missense	SNP	0.987	A	A	39805372	G	A	39805372	3	1	170	1	0	0	0	0	1	0	0	0	8960	1087	38	2	1718	2	LRFN1	19	39805372	Missense_Mutation	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	37594554	39805372	19323611	53	32314										
ACSS2	55902	genome.wustl.edu	37	chr20	33513535	33513535	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	caggatggctattactggatCactggcaggattgatgacat	12	7	1	2			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr20:33513535C>T	ENST00000360596.2	+	15	1903	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	ACSS2_ENST00000253382.5_Silent_p.I577I|ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000336325.4_Silent_p.I514I	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	564					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATTACTGGATCACTGGCAGGA	0.498																																																	0													90	87	88					20																	33513535		2203	4300	6503	SO:0001819	synonymous_variant	55902			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1692C>T	20.37:g.33513535C>T			A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_Acyl-CoA_synth_DUF3448	p.S173L	ENST00000360596.2	37	c.518	CCDS13243.1	20																																																																																			ACSS2	-	NULL		0.498	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	C	NM_018677		33513535	1	no_errors	ENST00000480978	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33513535	C	T	33513535	2	4	170	1	0	0	0	0	0	0	0	1	189	816	29	1		1	ACSS2	20	33513535	Silent	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		33513535	29511985	54	32315										
CSE1L	1434	genome.wustl.edu	37	chr20	47691934	47691934	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gagggacctgtgacaggaatCttctctggttatgttaattc	11	7	2	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr20:47691934C>A	ENST00000262982.2	+	12	1335	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	CSE1L_ENST00000542325.1_Silent_p.I187I|CSE1L_ENST00000396192.3_Silent_p.I348I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	404					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TGACAGGAATCTTCTCTGGTT	0.403																																																	0													138	132	134					20																	47691934		2203	4300	6503	SO:0001819	synonymous_variant	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1212C>A	20.37:g.47691934C>A			A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I404	ENST00000262982.2	37	c.1212	CCDS13412.1	20																																																																																			CSE1L	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold		0.403	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	C	NM_001316		47691934	1	no_errors	ENST00000262982	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47691934	C	A	47691934	2	1	170	1	0	0	0	0	0	0	0	1	3935	903	32	3		3	CSE1L	20	47691934	Silent	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09	14178399	47691934	15333586	55	32316										
CDH4	1002	genome.wustl.edu	37	chr20	60498574	60498574	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	gtgtccaaccaggcgcccctGgccagcggaatccagatgtc	12	15	0	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr20:60498574G>C	ENST00000360469.5	+	10	1528	c.1440G>C	c.(1438-1440)ctG>ctC	p.L480L	CDH4_ENST00000543233.1_Silent_p.L406L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	480	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGGCGCCCCTGGCCAGCGGAA	0.577																																																	0													86	78	80					20																	60498574		2203	4300	6503	SO:0001819	synonymous_variant	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1440G>C	20.37:g.60498574G>C			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.L480	ENST00000360469.5	37	c.1440	CCDS13488.1	20																																																																																			CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	G	NM_001794		60498574	1	no_errors	ENST00000360469	ensembl	human	known	70_37	silent	SNP	1.000	C	C	60498574	G	C	60498574	2	2	170	1	0	0	0	0	0	0	0	1	3117	1335	47	4		4	CDH4	20	60498574	Silent	SNP	G	TCGA-LP-A4AX-01A-12D-A243-09	12806640	60498574	2526946	56	32317										
BACH1	571	genome.wustl.edu	37	chr21	30698588	30698588	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	aagaaaaaaatgcttttcatCacactgtcagaaaacagacc	5	9	3	3			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr21:30698588C>T	ENST00000399921.1	+	3	686	c.443C>T	c.(442-444)tCa>tTa	p.S148L	BACH1_ENST00000286800.3_Missense_Mutation_p.S148L	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGCTTTTCATCACACTGTCAG	0.368																																																	0													75	78	77					21																	30698588		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.443C>T	21.37:g.30698588C>T	ENSP00000382805:p.Ser148Leu		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.S148L	ENST00000399921.1	37	c.443	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029431	0.35797	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.77358	-0.65;-0.65;-0.98;-0.98;-1.09	5.45	5.45	0.79879	.	0.626601	0.15550	N	0.256462	T	0.67031	0.2850	N	0.24115	0.695	0.09310	N	1	B	0.28713	0.22	B	0.29267	0.1	T	0.57894	-0.7732	10	0.33940	T	0.23	-4.9645	14.4233	0.67198	0.1826:0.8174:0.0:0.0	.	148	O14867	BACH1_HUMAN	L	148	ENSP00000286800:S148L;ENSP00000382805:S148L;ENSP00000400576:S148L;ENSP00000408605:S148L;ENSP00000392202:S148L	ENSP00000286800:S148L	S	+	2	0	BACH1	29620459	0.000000	0.05858	0.318000	0.25279	0.704000	0.40688	0.903000	0.28475	2.731000	0.93534	0.591000	0.81541	TCA	BACH1	-	NULL		0.368	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	C	NM_206866		30698588	1	no_errors	ENST00000286800	ensembl	human	known	70_37	missense	SNP	0.042	T	T	30698588	C	T	30698588	3	4	170	1	0	0	0	0	1	0	0	0	1284	838	29	1	449	1	BACH1	21	30698588	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		30698588	17431307	57	32318										
GATSL3	652968	genome.wustl.edu	37	chr22	30682031	30682031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	ccaggggctgtccaccgatgCgcaccatcctccacagctcc	9	19	0	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chr22:30682031C>T	ENST00000407689.3	-	7	929	c.800G>A	c.(799-801)cGc>cAc	p.R267H	GATSL3_ENST00000404953.3_Missense_Mutation_p.R229H|GATSL3_ENST00000459785.1_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	267										breast(1)|endometrium(1)|lung(1)	3						TCCACCGATGCGCACCATCCT	0.672																																																	0													34	43	40					22																	30682031		2026	4177	6203	SO:0001583	missense	652968				CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.800G>A	22.37:g.30682031C>T	ENSP00000384183:p.Arg267His		O76052|Q96ND9|Q9UIE8	Missense_Mutation	SNP	NULL	p.R267H	ENST00000407689.3	37	c.800	CCDS43001.1	22	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864049	0.91511	.	.	ENSG00000239282;ENSG00000239282;ENSG00000248751	ENST00000407689;ENST00000404953;ENST00000434291	T	0.09350	2.99	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.85630	2.765	0.51482	D	0.999927	D;P	0.89917	1.0;0.809	D;B	0.85130	0.997;0.159	T	0.42682	-0.9437	10	0.72032	D	0.01	-13.875	16.9605	0.86271	0.0:1.0:0.0:0.0	.	267;229	Q8WTX7;B7WPJ3	GATL3_HUMAN;.	H	267;229;418	ENSP00000401535:R418H	ENSP00000385868:R229H	R	-	2	0	RP1-130H16.18;GATSL3	29012031	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.055000	0.71103	2.252000	0.74401	0.462000	0.41574	CGC	GATSL3	-	NULL		0.672	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATSL3	HGNC	protein_coding	OTTHUMT00000320581.2	C	NM_001037666		30682031	-1	no_errors	ENST00000407689	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30682031	C	T	30682031	3	4	170	1	0	0	0	0	1	0	0	0	6284	768	27	2	201	2	GATSL3	22	30682031	Missense_Mutation	SNP	C	TCGA-LP-A4AX-01A-12D-A243-09		30682031	20622535	58	32319										
PTCHD1	139411	genome.wustl.edu	37	chrX	23397865	23397865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	tcgggccaccaatcggaccaAttttgctatcacatacccaa	6	14	1	0			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chrX:23397865A>G	ENST00000379361.4	+	2	1369	c.509A>G	c.(508-510)aAt>aGt	p.N170S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	170					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AATCGGACCAATTTTGCTATC	0.502																																																	0													101	87	92					X																	23397865		2203	4300	6503	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.509A>G	X.37:g.23397865A>G	ENSP00000368666:p.Asn170Ser		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.N170S	ENST00000379361.4	37	c.509	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539425	0.27475	.	.	ENSG00000165186	ENST00000379361	D	0.85013	-1.93	5.06	5.06	0.68205	.	0.191351	0.47093	D	0.000254	T	0.74207	0.3686	L	0.27053	0.805	0.32979	D	0.523382	B;B	0.26363	0.147;0.005	B;B	0.22386	0.039;0.01	T	0.71721	-0.4507	10	0.08599	T	0.76	0.0681	14.135	0.65281	1.0:0.0:0.0:0.0	.	65;170	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	S	170	ENSP00000368666:N170S	ENSP00000368666:N170S	N	+	2	0	PTCHD1	23307786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.499000	0.45372	1.983000	0.57843	0.486000	0.48141	AAT	PTCHD1	-	pfam_Patched		0.502	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	A	NM_173495		23397865	1	no_errors	ENST00000379361	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23397865	A	G	23397865	3	3	170	1	0	0	0	0	1	0	0	0	12759	101	4	5	515	5	PTCHD1	23	23397865	Missense_Mutation	SNP	A	TCGA-LP-A4AX-01A-12D-A243-09		23397865	131872695	59	32320										
KIAA2022	340533	genome.wustl.edu	37	chrX	73962042	73962042	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.333333333333333	20	6.23176530848326e-06	2.9981981981982	3.85482625482625	2.61133391455972	0.364044295687383	0.608832701408209	13	cgttggtagaaaagtggaacTcttagcagcctttgcctcat	10	9	2	1			TCGA-LP-A4AX-01A-12D-A243-09	TCGA-LP-A4AX-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23	c4d565a5-8321-4cf0-899d-cb5beb75f2b9	g.chrX:73962042T>G	ENST00000055682.6	-	3	2961	c.2350A>C	c.(2350-2352)Agt>Cgt	p.S784R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	784					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAAGTGGAACTCTTAGCAGCC	0.413																																																	0													95	89	91					X																	73962042		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2350A>C	X.37:g.73962042T>G	ENSP00000055682:p.Ser784Arg		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.S784R	ENST00000055682.6	37	c.2350	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364797	0.41902	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.29397	1.57;1.57	5.73	5.73	0.89815	.	0.359879	0.26919	N	0.021839	T	0.18882	0.0453	N	0.08118	0	0.24823	N	0.992572	B	0.06786	0.001	B	0.04013	0.001	T	0.16012	-1.0417	10	0.45353	T	0.12	-13.3707	15.0241	0.71653	0.0:0.0:0.0:1.0	.	784	Q5QGS0	K2022_HUMAN	R	784	ENSP00000362567:S784R;ENSP00000055682:S784R	ENSP00000055682:S784R	S	-	1	0	KIAA2022	73878767	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.698000	0.84413	1.930000	0.55929	0.486000	0.48141	AGT	KIAA2022	-	NULL		0.413	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	T	NM_001008537		73962042	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73962042	T	G	73962042	3	3	170	1	0	0	0	0	1	0	0	0	8289	1551	54	5	2208	5	KIAA2022	23	73962042	Missense_Mutation	SNP	T	TCGA-LP-A4AX-01A-12D-A243-09	50564177	73962042	81308518	60	32321										
PRAMEF22	401940	genome.wustl.edu	37	chr1	13330569	13330569	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cgacagccatcggagatgaaGagtttgcgaagattcctcat	11	9	1	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:13330569G>A	ENST00000353410.5	-	2	737	c.711C>T	c.(709-711)ctC>ctT	p.L237L	PRAMEF3_ENST00000376173.3_Silent_p.L239L			Q5TYW8	PRAM3_HUMAN	PRAME family member 3	237					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGATGAAGAGTTTGCGAA	0.478																																																	0													59	43	50					1																	13330569		1332	1451	2783	SO:0001819	synonymous_variant	401940					1p36.21	2013-01-17			ENSG00000204503			"-"	14087	protein-coding gene	gene with protein product							Standard			Approved		uc001aut.1	Q5TYW8	OTTHUMG00000009404	ENST00000353410.5:c.711C>T	1.37:g.13330569G>A				Silent	SNP	NULL	p.L239	ENST00000353410.5	37	c.717		1																																																																																			PRAMEF3	-	NULL		0.478	PRAMEF3-001	KNOWN	basic|appris_candidate	protein_coding	PRAMEF3	HGNC	protein_coding	OTTHUMT00000026088.1	G	NM_001013692		13330569	-1	no_errors	ENST00000376173	ensembl	human	known	70_37	silent	SNP	0.014	A	A	13330569	G	A	13330569	2	1	171	1	0	0	0	0	0	0	0	1	12463	929	33	1		1	PRAMEF22	1	13330569	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		13330569	235920052	1	32322										
NIPAL3	57185	genome.wustl.edu	37	chr1	24771731	24771731	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agtggaaaccgaaagactttCtgagtaagttcagtgatttg	11	5	2	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:24771731C>T	ENST00000374399.4	+	5	759	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	NIPAL3_ENST00000358028.4_Silent_p.L131L|NIPAL3_ENST00000003912.3_Silent_p.L49L|NIPAL3_ENST00000428131.1_Silent_p.L131L|NIPAL3_ENST00000339255.2_Silent_p.L131L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	131						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GAAAGACTTTCTGAGTAAGTT	0.373																																																	0													140	131	134					1																	24771731		2203	4300	6503	SO:0001819	synonymous_variant	57185			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.391C>T	1.37:g.24771731C>T			A2A298|Q6MZT9|Q9BVE6	Silent	SNP	pfam_Mg_trans_NIPA	p.L131	ENST00000374399.4	37	c.391	CCDS30631.1	1																																																																																			NIPAL3	-	pfam_Mg_trans_NIPA		0.373	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL3	HGNC	protein_coding	OTTHUMT00000276996.1	C	NM_020448		24771731	1	no_errors	ENST00000374399	ensembl	human	known	70_37	silent	SNP	0.996	T	T	24771731	C	T	24771731	2	4	171	1	0	0	0	0	0	0	0	1	10450	912	32	1		1	NIPAL3	1	24771731	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	11441162	24771731	224478890	2	32323										
SMPDL3B	27293	genome.wustl.edu	37	chr1	28282269	28282269	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcatggttccgggagggcttCaatgaaaaatacctgaaggt	13	7	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:28282269C>G	ENST00000373894.3	+	6	956	c.765C>G	c.(763-765)ttC>ttG	p.F255L	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.F255L|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.F207L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	255					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGGAGGGCTTCAATGAAAAAT	0.552																																																	0													97	90	92					1																	28282269		2203	4300	6503	SO:0001583	missense	27293			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.765C>G	1.37:g.28282269C>G	ENSP00000363001:p.Phe255Leu		B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.F255L	ENST00000373894.3	37	c.765	CCDS30655.1	1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585990	0.46110	.	.	ENSG00000130768	ENST00000373894;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D	0.91237	-2.81;-2.81;-2.81	5.34	4.41	0.53225	Metallophosphoesterase domain (1);	0.046960	0.85682	D	0.000000	D	0.93387	0.7891	M	0.76002	2.32	0.39437	D	0.967182	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.74674	0.972;0.984;0.962	D	0.91922	0.5548	10	0.33940	T	0.23	-29.989	7.601	0.28075	0.0:0.7168:0.1385:0.1447	.	207;255;255	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	L	255;255;207;207	ENSP00000363001:F255L;ENSP00000362995:F255L;ENSP00000449450:F207L	ENSP00000362995:F255L	F	+	3	2	SMPDL3B	28154856	0.990000	0.36364	0.983000	0.44433	0.015000	0.08874	0.325000	0.19628	1.203000	0.43233	0.462000	0.41574	TTC	SMPDL3B	-	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd		0.552	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	HGNC	protein_coding	OTTHUMT00000011170.1	C	NM_014474		28282269	1	no_errors	ENST00000373894	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28282269	C	G	28282269	3	3	171	1	0	0	0	0	1	0	0	0	14839	825	29	1	787	1	SMPDL3B	1	28282269	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	3510538	28282269	220968352	3	32324										
EPB41	2035	genome.wustl.edu	37	chr1	29386958	29386958	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agagagaaagactagatggtGaaaacatttatatcagacat	9	4	1	6			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:29386958G>A	ENST00000343067.4	+	15	2096	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	EPB41_ENST00000356093.2_Missense_Mutation_p.E624K|EPB41_ENST00000373798.1_Missense_Mutation_p.E657K|EPB41_ENST00000347529.3_Intron|EPB41_ENST00000373797.1_Missense_Mutation_p.E643K|EPB41_ENST00000373800.3_Missense_Mutation_p.E415K|EPB41_ENST00000349460.4_Missense_Mutation_p.E434K|EPB41_ENST00000398863.2_Intron	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	657	Spectrin--actin-binding.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACTAGATGGTGAAAACATTTA	0.338																																																	0													103	100	101					1																	29386958		2203	4300	6503	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1969G>A	1.37:g.29386958G>A	ENSP00000345259:p.Glu657Lys		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.E657K	ENST00000343067.4	37	c.1969	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344604	0.82022	.	.	ENSG00000159023	ENST00000343067;ENST00000356093;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.87103	-2.0;-2.15;-2.09;-2.03;-2.0;-2.21	6.07	6.07	0.98685	.	0.454435	0.26780	N	0.022522	D	0.89476	0.6726	L	0.48642	1.525	0.80722	D	1	B;D;P;D;B	0.55605	0.212;0.965;0.905;0.972;0.199	B;P;P;P;B	0.53912	0.097;0.487;0.487;0.737;0.076	D	0.87810	0.2631	10	0.40728	T	0.16	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	657;624;643;415;434	P11171;P11171-2;P11171-7;P11171-4;P11171-3	41_HUMAN;.;.;.;.	K	657;624;643;434;415;657;643	ENSP00000345259:E657K;ENSP00000348397:E624K;ENSP00000317597:E434K;ENSP00000362906:E415K;ENSP00000362904:E657K;ENSP00000362903:E643K	ENSP00000345259:E657K	E	+	1	0	EPB41	29259545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAA	EPB41	-	pirsf_Band_41_protein		0.338	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	G	NM_203342		29386958	1	no_errors	ENST00000343067	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29386958	G	A	29386958	3	1	171	1	0	0	0	0	1	0	0	0	5163	1291	45	1	2023	1	EPB41	1	29386958	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	1104689	29386958	219863663	4	32325										
SLC5A9	200010	genome.wustl.edu	37	chr1	48688468	48688468	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggggacggggtcaggactgaGacagctccacacatagcact	14	11	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:48688468G>C	ENST00000438567.2	+	1	112	c.60G>C	c.(58-60)gaG>gaC	p.E20D	SLC5A9_ENST00000236495.5_Missense_Mutation_p.E20D|SLC5A9_ENST00000420136.2_Missense_Mutation_p.E13D|SLC5A9_ENST00000533824.1_Missense_Mutation_p.E20D	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	20					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCAGGACTGAGACAGCTCCAC	0.562																																																	0													141	106	118					1																	48688468		2203	4300	6503	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.60G>C	1.37:g.48688468G>C	ENSP00000401730:p.Glu20Asp		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.E20D	ENST00000438567.2	37	c.60	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	G	8.004	0.756061	0.15846	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.87887	-2.24;-2.23;-2.31;-1.7	5.04	-1.86	0.07760	.	1.225100	0.05640	N	0.583257	T	0.74313	0.3700	L	0.34521	1.04	0.09310	N	1	B;B;B	0.27264	0.0;0.0;0.173	B;B;B	0.23852	0.0;0.0;0.049	T	0.56294	-0.8003	10	0.15066	T	0.55	.	0.218	0.00164	0.2981:0.223:0.2523:0.2267	.	20;20;20	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	D	20;20;20;13	ENSP00000431900:E20D;ENSP00000401730:E20D;ENSP00000236495:E20D;ENSP00000408881:E13D	ENSP00000236495:E20D	E	+	3	2	SLC5A9	48461055	0.023000	0.18921	0.000000	0.03702	0.175000	0.22909	-0.532000	0.06164	-0.415000	0.07484	-0.259000	0.10710	GAG	SLC5A9	-	NULL		0.562	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	G	XM_117174		48688468	1	no_errors	ENST00000236495	ensembl	human	known	70_37	missense	SNP	0.000	C	C	48688468	G	C	48688468	3	2	171	1	0	0	0	0	1	0	0	0	14702	933	33	1	62	1	SLC5A9	1	48688468	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	19301510	48688468	200562153	5	32326										
SLC5A9	200010	genome.wustl.edu	37	chr1	48688562	48688562	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttgtcttcgtcattgctgtgGggatctgggtaagtgggccc	15	8	3	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:48688562G>C	ENST00000438567.2	+	1	206	c.154G>C	c.(154-156)Ggg>Cgg	p.G52R	SLC5A9_ENST00000236495.5_Missense_Mutation_p.G52R|SLC5A9_ENST00000420136.2_Missense_Mutation_p.G45R|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G52R	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	52					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CATTGCTGTGGGGATCTGGGT	0.592																																																	0													102	70	81					1																	48688562		2203	4300	6503	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.154G>C	1.37:g.48688562G>C	ENSP00000401730:p.Gly52Arg		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.G52R	ENST00000438567.2	37	c.154	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560949	0.65538	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.94138	-3.36;-3.27;-3.28;-2.87	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97186	0.9854	10	0.87932	D	0	.	17.8116	0.88619	0.0:0.0:1.0:0.0	.	52;52;52	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	R	52;52;52;45	ENSP00000431900:G52R;ENSP00000401730:G52R;ENSP00000236495:G52R;ENSP00000408881:G45R	ENSP00000236495:G52R	G	+	1	0	SLC5A9	48461149	1.000000	0.71417	0.975000	0.42487	0.227000	0.25037	8.805000	0.91925	2.630000	0.89119	0.557000	0.71058	GGG	SLC5A9	-	pfscan_Na/solute_symporter		0.592	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	G	XM_117174		48688562	1	no_errors	ENST00000236495	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48688562	G	C	48688562	3	2	171	1	0	0	0	0	1	0	0	0	14702	1232	43	4	156	4	SLC5A9	1	48688562	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	94	48688562	200562059	6	32327										
USP24	23358	genome.wustl.edu	37	chr1	55624600	55624600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aatgtggtgatttcagcatgCgcaatagaatatctagtcga	10	6	2	2	rs567412757		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:55624600C>T	ENST00000294383.6	-	10	1177	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	USP24_ENST00000407756.1_Missense_Mutation_p.R281H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	393					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTCAGCATGCGCAATAGAAT	0.403													C|||	1	0.000199681	0	0.0014	5008	,	,		16308	0		0	False		,,,				2504	0																0													75	71	72					1																	55624600		1893	4118	6011	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1178G>A	1.37:g.55624600C>T	ENSP00000294383:p.Arg393His		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.R393H	ENST00000294383.6	37	c.1178	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.385881	0.95967	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.38560	1.13;1.13	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	L	0.57536	1.79	0.58432	D	0.999991	D	0.64830	0.994	P	0.48189	0.57	T	0.55418	-0.8144	10	0.72032	D	0.01	.	19.6122	0.95610	0.0:1.0:0.0:0.0	.	281	B7WPF4	.	H	393;281	ENSP00000294383:R393H;ENSP00000385700:R281H	ENSP00000294383:R393H	R	-	2	0	USP24	55397188	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.568000	0.82369	2.709000	0.92574	0.591000	0.81541	CGC	USP24	-	superfamily_ARM-type_fold		0.403	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	C			55624600	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55624600	C	T	55624600	3	4	171	1	0	0	0	0	1	0	0	0	17086	768	27	2	6920	2	USP24	1	55624600	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	6936038	55624600	193626021	7	32328										
CACHD1	57685	genome.wustl.edu	37	chr1	65146977	65146977	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gtccaacctggagaatgacaGagatgaaagggacgacgaca	13	8	0	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:65146977G>A	ENST00000371073.2	+	25	3443	c.3443G>A	c.(3442-3444)aGa>aAa	p.R1148K	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R1097K			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1148					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAGAATGACAGAGATGAAAGG	0.428																																																	0													157	145	149					1																	65146977		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3443G>A	1.37:g.65146977G>A	ENSP00000360113:p.Arg1148Lys		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.R1148K	ENST00000371073.2	37	c.3443		1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808390	0.90707	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.21932	1.98;1.99	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	L	0.29908	0.895	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.01635	-1.1307	10	0.21014	T	0.42	-21.8516	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1148	Q5VU97	CAHD1_HUMAN	K	1148;1097	ENSP00000360113:R1148K;ENSP00000290039:R1097K	ENSP00000290039:R1097K	R	+	2	0	CACHD1	64919565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.724000	0.93272	0.563000	0.77884	AGA	CACHD1	-	NULL		0.428	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		G	NM_020925		65146977	1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65146977	G	A	65146977	3	1	171	1	0	0	0	0	1	0	0	0	2542	942	33	1	3388	1	CACHD1	1	65146977	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	9522377	65146977	184103644	8	32329										
MSH4	4438	genome.wustl.edu	37	chr1	76288101	76288101	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tgtgttttgaaaggaataatCacactctctttggtgttcta	8	6	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:76288101C>G	ENST00000263187.3	+	7	1101	c.997C>G	c.(997-999)Cac>Gac	p.H333D		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	333					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAGGAATAATCACACTCTCTT	0.308								Mismatch excision repair (MMR)																																									0													79	82	81					1																	76288101		2203	4296	6499	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.997C>G	1.37:g.76288101C>G	ENSP00000263187:p.His333Asp		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.H333D	ENST00000263187.3	37	c.997	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	C	8.844	0.942879	0.18281	.	.	ENSG00000057468	ENST00000263187	D	0.89746	-2.56	5.84	5.84	0.93424	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	L	0.31752	0.955	0.80722	D	1	B	0.29766	0.256	B	0.34873	0.191	T	0.76694	-0.2865	10	0.11182	T	0.66	1.1957	20.1535	0.98095	0.0:1.0:0.0:0.0	.	333	O15457	MSH4_HUMAN	D	333	ENSP00000263187:H333D	ENSP00000263187:H333D	H	+	1	0	MSH4	76060689	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.763000	0.68818	2.764000	0.94973	0.650000	0.86243	CAC	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.308	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	C	NM_002440		76288101	1	no_errors	ENST00000263187	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76288101	C	G	76288101	3	3	171	1	0	0	0	0	1	0	0	0	9895	826	29	1	1023	1	MSH4	1	76288101	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	11141124	76288101	172962520	9	32330										
GSTM4	2948	genome.wustl.edu	37	chr1	110199374	110199374	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gctcctggaatacacagactCaagctacgaggaaaagaagt	10	9	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:110199374C>G	ENST00000369836.4	+	2	386	c.77C>G	c.(76-78)tCa>tGa	p.S26*	GSTM4_ENST00000326729.5_Nonsense_Mutation_p.S26*|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Nonsense_Mutation_p.S26*|GSTM4_ENST00000369833.1_5'UTR	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	26	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TACACAGACTCAAGCTACGAG	0.577																																																	0													147	152	150					1																	110199374		2203	4300	6503	SO:0001587	stop_gained	2948			M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"Glutathione S-transferases / Soluble"	4636	protein-coding gene	gene with protein product		138333	"glutathione S-transferase M4"			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.77C>G	1.37:g.110199374C>G	ENSP00000358851:p.Ser26*		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Nonsense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu	p.S26*	ENST00000369836.4	37	c.77	CCDS807.1	1	.	.	.	.	.	.	.	.	.	.	c	37	6.087906	0.97271	.	.	ENSG00000168765	ENST00000369836;ENST00000336075;ENST00000326729	.	.	.	3.92	3.92	0.45320	.	0.171255	0.34555	U	0.003861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.334	12.9376	0.58325	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000316471:S26X	S	+	2	0	GSTM4	110000897	0.074000	0.21230	0.430000	0.26722	0.635000	0.38103	3.969000	0.56816	2.031000	0.59945	0.561000	0.74099	TCA	GSTM4	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.577	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM4	HGNC	protein_coding	OTTHUMT00000032187.1	C	NM_000850		110199374	1	no_errors	ENST00000369836	ensembl	human	known	70_37	nonsense	SNP	0.217	G	G	110199374	C	G	110199374	4	3	171	1	0	0	0	0	0	1	0	0	6860	838	29	1	83	1	GSTM4	1	110199374	Nonsense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	33911273	110199374	139051247	10	32331										
ADAM30	11085	genome.wustl.edu	37	chr1	120438431	120438431	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	catctgccattctatttcatCatcacttaagccacaaacct	2	14	5	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:120438431C>G	ENST00000369400.1	-	1	687	c.529G>C	c.(529-531)Gat>Cat	p.D177H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	177					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TCTATTTCATCATCACTTAAG	0.443																																																	0													87	85	86					1																	120438431		2203	4300	6503	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.529G>C	1.37:g.120438431C>G	ENSP00000358407:p.Asp177His		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D177H	ENST00000369400.1	37	c.529	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484283	0.26598	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01209	5.17	5.2	-0.593	0.11667	.	0.636430	0.13646	N	0.372604	T	0.00666	0.0022	N	0.19112	0.55	0.09310	N	1	D	0.56287	0.975	P	0.56751	0.805	T	0.55736	-0.8094	10	0.72032	D	0.01	.	6.3966	0.21616	0.0:0.4359:0.3873:0.1769	.	177	Q9UKF2	ADA30_HUMAN	H	177	ENSP00000358407:D177H	ENSP00000358407:D177H	D	-	1	0	ADAM30	120239954	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.246000	0.18160	0.200000	0.20447	-0.253000	0.11424	GAT	ADAM30	-	NULL		0.443	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1	C	NM_021794		120438431	-1	no_errors	ENST00000369400	ensembl	human	known	70_37	missense	SNP	0.000	G	G	120438431	C	G	120438431	3	3	171	1	0	0	0	0	1	0	0	0	248	826	29	1	1847	1	ADAM30	1	120438431	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	10239057	120438431	128812190	11	32332										
FDPS	2224	genome.wustl.edu	37	chr1	155288689	155288689	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aagacagctttctactccttCtaccttcctatagctgcagc	5	14	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:155288689C>G	ENST00000356657.6	+	8	978	c.816C>G	c.(814-816)ttC>ttG	p.F272L	RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.F272L|RUSC1_ENST00000368354.3_5'Flank|FDPS_ENST00000447866.1_Missense_Mutation_p.F206L|RUSC1-AS1_ENST00000446880.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	272					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TCTACTCCTTCTACCTTCCTA	0.512																																																	0													136	127	130					1																	155288689		2203	4300	6503	SO:0001583	missense	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.816C>G	1.37:g.155288689C>G	ENSP00000349078:p.Phe272Leu		D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.F272L	ENST00000356657.6	37	c.816	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974103	0.74246	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.66280	-0.2;-0.2;-0.2	4.32	2.34	0.29019	Terpenoid synthase (2);	0.150331	0.31392	N	0.007734	T	0.57021	0.2025	M	0.82716	2.605	0.49213	D	0.999769	B	0.31519	0.327	B	0.43331	0.416	T	0.62492	-0.6843	10	0.72032	D	0.01	-11.6765	6.844	0.23979	0.0:0.7415:0.0:0.2585	.	272	P14324	FPPS_HUMAN	L	206;272;272	ENSP00000391755:F206L;ENSP00000357340:F272L;ENSP00000349078:F272L	ENSP00000349078:F272L	F	+	3	2	FDPS	153555313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.645000	0.37238	0.682000	0.31407	0.655000	0.94253	TTC	FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.512	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155288689	1	no_errors	ENST00000356657	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155288689	C	G	155288689	3	3	171	1	0	0	0	0	1	0	0	0	5821	912	32	1	842	1	FDPS	1	155288689	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	34850258	155288689	93961932	12	32333										
IGSF9	57549	genome.wustl.edu	37	chr1	159898128	159898128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggctggtgaggctgcctcgaGgggcagcagggagaaggcct	20	9	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:159898128G>A	ENST00000368094.1	-	19	3247	c.3050C>T	c.(3049-3051)cCt>cTt	p.P1017L	IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1001L|TAGLN2_ENST00000368097.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1017					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGCCTCGAGGGGCAGCAGG	0.697																																																	0													8	10	9					1																	159898128		2162	4225	6387	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3050C>T	1.37:g.159898128G>A	ENSP00000357073:p.Pro1017Leu			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1017L	ENST00000368094.1	37	c.3050	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183388	0.21870	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.64803	-0.12;-0.03	4.04	4.04	0.47022	.	0.000000	0.34046	U	0.004314	T	0.28067	0.0692	N	0.24115	0.695	0.40874	D	0.983934	P;B	0.47034	0.889;0.107	B;B	0.40165	0.321;0.014	T	0.10154	-1.0642	9	.	.	.	-10.4001	7.5358	0.27710	0.1166:0.0:0.8834:0.0	.	1017;555	Q9P2J2;C9JI81	TUTLA_HUMAN;.	L	1001;1017;555	ENSP00000355049:P1001L;ENSP00000357073:P1017L	.	P	-	2	0	IGSF9	158164752	0.255000	0.24002	0.966000	0.40874	0.292000	0.27327	1.291000	0.33330	2.068000	0.61886	0.655000	0.94253	CCT	IGSF9	-	NULL		0.697	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	G	NM_020789		159898128	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	missense	SNP	0.895	A	A	159898128	G	A	159898128	3	1	171	1	0	0	0	0	1	0	0	0	7625	1000	35	4	501	4	IGSF9	1	159898128	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	4609439	159898128	89352493	13	32334										
ZNF669	79862	genome.wustl.edu	37	chr1	247267393	247267393	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ccggctacgccacggcgactCggtccgcaggttccggagcc	14	17	0	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:247267393C>G	ENST00000343381.6	-	1	281	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	ZNF669_ENST00000358785.4_Missense_Mutation_p.E37Q|ZNF669_ENST00000366500.1_Intron|ZNF669_ENST00000366501.1_Intron|ZNF669_ENST00000448299.2_Intron	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CACGGCGACTCGGTCCGCAGG	0.701																																																	0													9	12	11					1																	247267393		2149	4266	6415	SO:0001583	missense	79862				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"Zinc fingers, C2H2-type", "-"	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.109G>C	1.37:g.247267393C>G	ENSP00000342818:p.Glu37Gln		B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E37Q	ENST00000343381.6	37	c.109	CCDS31088.1	1	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.238435	0.01493	.	.	ENSG00000188295	ENST00000358785;ENST00000343381;ENST00000476158	T;T;T	0.05855	4.74;3.38;4.7	0.302	-0.604	0.11626	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47355	-0.9124	9	0.15499	T	0.54	.	2.2172	0.03963	0.2953:0.3473:0.3574:0.0	.	37	Q96BR6	ZN669_HUMAN	Q	37	ENSP00000351636:E37Q;ENSP00000342818:E37Q;ENSP00000429550:E37Q	ENSP00000342818:E37Q	E	-	1	0	ZNF669	245334016	0.459000	0.25768	0.004000	0.12327	0.004000	0.04260	0.192000	0.17096	-0.776000	0.04578	-0.777000	0.03380	GAG	ZNF669	-	NULL		0.701	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF669	HGNC	protein_coding	OTTHUMT00000098394.4	C	NM_024804		247267393	-1	no_errors	ENST00000343381	ensembl	human	known	70_37	missense	SNP	0.064	G	G	247267393	C	G	247267393	3	3	171	1	0	0	0	0	1	0	0	0	18106	893	31	1	1301	1	ZNF669	1	247267393	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	87369265	247267393	1983228	14	32335										
IFT172	26160	genome.wustl.edu	37	chr2	27680517	27680517	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	actccttaccctgtaggcctCttcccaaagcccactggccc	6	19	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:27680517C>G	ENST00000260570.3	-	29	3320	c.3217G>C	c.(3217-3219)Gag>Cag	p.E1073Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1073					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGTAGGCCTCTTCCCAAAGC	0.542																																																	0													136	109	118					2																	27680517		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3217G>C	2.37:g.27680517C>G	ENSP00000260570:p.Glu1073Gln		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.E1073Q	ENST00000260570.3	37	c.3217	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.193216	0.94960	.	.	ENSG00000138002	ENST00000260570	T	0.23754	1.89	6.08	6.08	0.98989	.	0.184560	0.56097	D	0.000023	T	0.50394	0.1613	M	0.66939	2.045	0.80722	D	1	D	0.63880	0.993	D	0.63703	0.917	T	0.42766	-0.9432	10	0.72032	D	0.01	-17.5685	19.2286	0.93827	0.0:1.0:0.0:0.0	.	1073	Q9UG01	IF172_HUMAN	Q	1073	ENSP00000260570:E1073Q	ENSP00000260570:E1073Q	E	-	1	0	IFT172	27534021	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.357000	0.79456	2.890000	0.99128	0.655000	0.94253	GAG	IFT172	-	NULL		0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	C	NM_015662		27680517	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27680517	C	G	27680517	3	3	171	1	0	0	0	0	1	0	0	0	7577	922	32	1	2112	1	IFT172	2	27680517	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09		27680517	215518856	15	32336										
THADA	63892	genome.wustl.edu	37	chr2	43655350	43655350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agagaaacatgcttggatgaCgatttggttctcccatatca	9	8	2	2	rs200421057		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:43655350C>T	ENST00000405006.4	-	28	4298	c.3947G>A	c.(3946-3948)cGt>cAt	p.R1316H	THADA_ENST00000405975.2_Missense_Mutation_p.R1316H|THADA_ENST00000415080.2_Missense_Mutation_p.R997H|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000330266.7_Missense_Mutation_p.R1026H	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1316										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCTTGGATGACGATTTGGTTC	0.413																																																	0													94	93	93					2																	43655350		2000	4175	6175	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3947G>A	2.37:g.43655350C>T	ENSP00000385995:p.Arg1316His		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.R1316H	ENST00000405006.4	37	c.3947	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373435	0.61624	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000415080;ENST00000405006	T;T;T;T	0.73152	1.52;-0.72;-0.63;-0.72	5.65	0.455	0.16649	Armadillo-type fold (1);	0.264989	0.37530	N	0.002041	T	0.63462	0.2513	L	0.58101	1.795	0.18873	N	0.999985	D;D;D	0.67145	0.996;0.992;0.99	P;B;B	0.48030	0.564;0.361;0.374	T	0.55617	-0.8113	10	0.36615	T	0.2	.	4.1337	0.10160	0.2354:0.4338:0.0:0.3309	.	995;997;1316	Q6YHU6-2;C9JJB1;Q6YHU6	.;.;THADA_HUMAN	H	1026;1316;997;1316	ENSP00000331105:R1026H;ENSP00000386088:R1316H;ENSP00000416048:R997H;ENSP00000385995:R1316H	ENSP00000331105:R1026H	R	-	2	0	THADA	43508854	0.665000	0.27466	0.002000	0.10522	0.151000	0.21798	1.165000	0.31822	0.188000	0.20168	-0.140000	0.14226	CGT	THADA	-	superfamily_ARM-type_fold		0.413	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	C	NM_022065		43655350	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	missense	SNP	0.257	T	T	43655350	C	T	43655350	3	4	171	1	0	0	0	0	1	0	0	0	15870	536	19	2	1958	2	THADA	2	43655350	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	15974833	43655350	199544023	16	32337										
ABCG5	64240	genome.wustl.edu	37	chr2	44053554	44053554	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gaacggggctggtgaatggtGagaaccacaattcggttcct	14	8	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:44053554G>C	ENST00000260645.1	-	6	880	c.741C>G	c.(739-741)ctC>ctG	p.L247L	ABCG5_ENST00000405322.1_Intron|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	247	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GGTGAATGGTGAGAACCACAA	0.542																																																	0													114	98	104					2																	44053554		2203	4300	6503	SO:0001819	synonymous_variant	64240			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.741C>G	2.37:g.44053554G>C			Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L247	ENST00000260645.1	37	c.741	CCDS1814.1	2																																																																																			ABCG5	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.542	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1	G	NM_022436		44053554	-1	no_errors	ENST00000260645	ensembl	human	known	70_37	silent	SNP	1.000	C	C	44053554	G	C	44053554	2	2	171	1	0	0	0	0	0	0	0	1	71	1277	45	1		1	ABCG5	2	44053554	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	398204	44053554	199145819	17	32338										
TGOLN2	10618	genome.wustl.edu	37	chr2	85555056	85555056	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttacccgccgctgcgacgttCaggaggaccaaggcaaccac	11	15	1	0	rs568744405		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:85555056C>T	ENST00000409232.3	-	1	91	c.30G>A	c.(28-30)ctG>ctA	p.L10L	TGOLN2_ENST00000282120.2_Silent_p.L10L|TGOLN2_ENST00000409015.1_Silent_p.L10L|TGOLN2_ENST00000444342.2_Silent_p.L10L|TGOLN2_ENST00000398263.2_Silent_p.L10L|TGOLN2_ENST00000377386.3_Silent_p.L10L			O43493	TGON2_HUMAN	trans-golgi network protein 2	10			L -> V (in dbSNP:rs1128140). {ECO:0000269|PubMed:9422759}.			Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)		p.L10L(1)									CTGCGACGTTCAGGAGGACCA	0.652																																																	1	Substitution - coding silent(1)	prostate(1)											27	34	31					2																	85555056		2034	4166	6200	SO:0001819	synonymous_variant	10618			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.30G>A	2.37:g.85555056C>T			B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	NULL	p.L10	ENST00000409232.3	37	c.30	CCDS56126.1	2																																																																																			TGOLN2	-	NULL		0.652	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	C	NM_006464		85555056	-1	no_errors	ENST00000377386	ensembl	human	known	70_37	silent	SNP	0.151	T	T	85555056	C	T	85555056	2	4	171	1	0	0	0	0	0	0	0	1	15866	813	29	1		1	TGOLN2	2	85555056	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	41501502	85555056	157644317	18	32339										
ZEB2	9839	genome.wustl.edu	37	chr2	145156053	145156053	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agcagggggaaatgcgctttGaggtggaagagctgtgtata	17	4	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:145156053G>C	ENST00000558170.2	-	8	3885	c.2701C>G	c.(2701-2703)Caa>Gaa	p.Q901E	ZEB2_ENST00000539609.3_Missense_Mutation_p.Q877E|ZEB2_ENST00000409487.3_Missense_Mutation_p.Q901E|ZEB2_ENST00000303660.4_Missense_Mutation_p.Q901E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	901					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AATGCGCTTTGAGGTGGAAGA	0.463																																					Melanoma(33;1235 1264 5755 16332)												0													172	166	168					2																	145156053		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2701C>G	2.37:g.145156053G>C	ENSP00000454157:p.Gln901Glu		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.Q901E	ENST00000558170.2	37	c.2701	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474094	0.63737	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14391	2.53;2.51;2.51	5.96	5.96	0.96718	.	0.047810	0.85682	D	0.000000	T	0.29914	0.0748	L	0.36672	1.1	0.80722	D	1	P;D;P;P	0.54964	0.484;0.969;0.924;0.924	B;D;P;P	0.64877	0.224;0.93;0.9;0.9	T	0.00176	-1.1953	10	0.52906	T	0.07	-11.6614	20.422	0.99049	0.0:0.0:1.0:0.0	.	877;766;900;901	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	E	877;901;901	ENSP00000443792:Q877E;ENSP00000302501:Q901E;ENSP00000386854:Q901E	ENSP00000302501:Q901E	Q	-	1	0	ZEB2	144872523	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.876000	0.87215	2.832000	0.97577	0.655000	0.94253	CAA	ZEB2	-	NULL		0.463	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	G	NM_014795		145156053	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	C	C	145156053	G	C	145156053	3	2	171	1	0	0	0	0	1	0	0	0	17654	1299	45	1	955	1	ZEB2	2	145156053	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	59600997	145156053	98043320	19	32340										
MBD5	55777	genome.wustl.edu	37	chr2	149247627	149247627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cactgccatttctgcctgggGaacagcacccaatactgtta	8	13	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:149247627G>A	ENST00000407073.1	+	12	4724	c.3727G>A	c.(3727-3729)Gaa>Aaa	p.E1243K	MBD5_ENST00000404807.1_Missense_Mutation_p.E1476K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1243					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCTGCCTGGGGAACAGCACCC	0.413																																																	0													80	77	78					2																	149247627		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3727G>A	2.37:g.149247627G>A	ENSP00000386049:p.Glu1243Lys		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.E1243K	ENST00000407073.1	37	c.3727	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198716	0.38806	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.49139	0.79;0.8	6.11	6.11	0.99139	.	0.000000	0.64402	D	0.000004	T	0.36799	0.0980	N	0.24115	0.695	0.38802	D	0.955219	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.15292	-1.0442	10	0.49607	T	0.09	-9.5387	14.832	0.70156	0.0681:0.0:0.9319:0.0	.	1476;1243	E9PHH0;Q9P267	.;MBD5_HUMAN	K	1243;1476	ENSP00000386049:E1243K;ENSP00000384672:E1476K	ENSP00000384672:E1476K	E	+	1	0	MBD5	148964097	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.111000	0.57838	2.906000	0.99361	0.655000	0.94253	GAA	MBD5	-	NULL		0.413	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	G			149247627	1	no_errors	ENST00000407073	ensembl	human	known	70_37	missense	SNP	0.997	A	A	149247627	G	A	149247627	3	1	171	1	0	0	0	0	1	0	0	0	9370	1175	41	1	3753	1	MBD5	2	149247627	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	4091574	149247627	93951746	20	32341										
NEB	4703	genome.wustl.edu	37	chr2	152426701	152426701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aatccatgtcactgaccagaGcctgggaatttttagagtgc	10	9	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:152426701G>T	ENST00000172853.10	-	81	12368	c.12221C>A	c.(12220-12222)gCt>gAt	p.A4074D	NEB_ENST00000409198.1_Missense_Mutation_p.A4074D|NEB_ENST00000427231.2_Missense_Mutation_p.A5775D|NEB_ENST00000604864.1_Missense_Mutation_p.A5775D|NEB_ENST00000603639.1_Missense_Mutation_p.A5775D|NEB_ENST00000397345.3_Missense_Mutation_p.A5775D			P20929	NEBU_HUMAN	nebulin	4074					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTGACCAGAGCCTGGGAATT	0.537																																																	0													51	51	51					2																	152426701		2008	4169	6177	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12221C>A	2.37:g.152426701G>T	ENSP00000172853:p.Ala4074Asp		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.A5775D	ENST00000172853.10	37	c.17324		2	.	.	.	.	.	.	.	.	.	.	G	4.875	0.162706	0.09287	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.95	2.15	0.27550	.	0.546974	0.21429	N	0.074681	T	0.26304	0.0642	N	0.25485	0.75	0.09310	N	1	B;B	0.23650	0.07;0.089	B;B	0.23275	0.039;0.045	T	0.18116	-1.0347	10	0.12430	T	0.62	.	3.8265	0.08856	0.1253:0.1141:0.5244:0.2361	.	4074;505	P20929;Q14215	NEBU_HUMAN;.	D	4074;5775;5775;123;505;4074	ENSP00000386259:A4074D;ENSP00000380505:A5775D;ENSP00000416578:A5775D;ENSP00000410961:A505D;ENSP00000172853:A4074D	ENSP00000172853:A4074D	A	-	2	0	NEB	152134947	0.001000	0.12720	0.237000	0.24090	0.113000	0.19764	0.896000	0.28377	0.125000	0.18397	-0.300000	0.09419	GCT	NEB	-	smart_Nebulin_35r-motif		0.537	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152426701	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.001	T	T	152426701	G	T	152426701	3	4	171	1	0	0	0	0	1	0	0	0	10326	971	34	4	8658	4	NEB	2	152426701	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	3179074	152426701	90772672	21	32342										
SCN9A	6335	genome.wustl.edu	37	chr2	167138232	167138232	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cttgctctactcattgctctCtgtctgaggttgggatcatt	9	10	5	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:167138232C>T	ENST00000409435.1	-	12	2060	c.2061G>A	c.(2059-2061)caG>caA	p.Q687Q	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.Q688Q|SCN9A_ENST00000409672.1_Silent_p.Q676Q|SCN9A_ENST00000375387.4_Silent_p.Q688Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	687					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATTGCTCTCTGTCTGAGGT	0.348																																																	0													193	188	190					2																	167138232		1889	4134	6023	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2061G>A	2.37:g.167138232C>T			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.Q688	ENST00000409435.1	37	c.2064	CCDS46441.1	2																																																																																			SCN9A	-	pfam_DUF3451		0.348	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167138232	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	silent	SNP	1.000	T	T	167138232	C	T	167138232	2	4	171	1	0	0	0	0	0	0	0	1	13955	912	32	1		1	SCN9A	2	167138232	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	14711531	167138232	76061141	22	32343										
MAP1D	254042	genome.wustl.edu	37	chr2	172930371	172930371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agatagatgctcttgttcatCgggaaatcatcagtcataat	8	7	5	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:172930371C>T	ENST00000315796.4	+	4	775	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	METAP1D_ENST00000488581.1_Intron	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	130					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TCTTGTTCATCGGGAAATCAT	0.368																																																	0													210	172	185					2																	172930371		2203	4300	6503	SO:0001583	missense	254042			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"methionine aminopeptidase 1D"	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.388C>T	2.37:g.172930371C>T	ENSP00000315152:p.Arg130Trp		Q1WNX3	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.R130W	ENST00000315796.4	37	c.388	CCDS2246.1	2	.	.	.	.	.	.	.	.	.	.	C	5.241	0.230000	0.09969	.	.	ENSG00000172878	ENST00000315796	T	0.76968	-1.06	5.68	3.87	0.44632	Peptidase M24, structural domain (3);	0.314175	0.39615	N	0.001313	T	0.71617	0.3361	L	0.58810	1.83	0.24283	N	0.995196	B	0.06786	0.001	B	0.01281	0.0	T	0.64931	-0.6291	10	0.72032	D	0.01	-8.3285	8.5518	0.33455	0.0:0.7392:0.1253:0.1355	.	130	Q6UB28	AMP1D_HUMAN	W	130	ENSP00000315152:R130W	ENSP00000315152:R130W	R	+	1	2	METAP1D	172638617	1.000000	0.71417	0.999000	0.59377	0.009000	0.06853	2.805000	0.47939	0.846000	0.35142	-0.145000	0.13849	CGG	METAP1D	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1		0.368	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1D	HGNC	protein_coding	OTTHUMT00000255378.2	C	NM_199227		172930371	1	no_errors	ENST00000315796	ensembl	human	known	70_37	missense	SNP	1.000	T	T	172930371	C	T	172930371	3	4	171	1	0	0	0	0	1	0	0	0	9252	875	31	1	402	1	MAP1D	2	172930371	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	5792139	172930371	70269002	23	32344										
OLA1	29789	genome.wustl.edu	37	chr2	174988002	174988002	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	taagtgtttattcaacacttCaatctaaagtgggagatgga	9	5	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:174988002C>T	ENST00000409546.1	-	7	1324	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000344357.5_Missense_Mutation_p.E54K|OLA1_ENST00000284719.3_Missense_Mutation_p.E212K|OLA1_ENST00000428402.2_Missense_Mutation_p.E212K					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TTCAACACTTCAATCTAAAGT	0.289																																																	0													41	41	41					2																	174988002		2200	4296	6496	SO:0001583	missense	29789				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.694G>A	2.37:g.174988002C>T	ENSP00000386350:p.Glu232Lys			Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.E212K	ENST00000409546.1	37	c.634		2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631258	0.87660	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000428402;ENST00000409546;ENST00000429575	T;T;T;T	0.44482	2.25;2.25;0.92;2.25	5.71	5.71	0.89125	TGS-like domain (1);	0.146062	0.64402	D	0.000010	T	0.56031	0.1958	L	0.52759	1.655	0.80722	D	1	B;D;B;D	0.57257	0.386;0.979;0.069;0.979	B;P;B;P	0.60345	0.149;0.873;0.026;0.873	T	0.40421	-0.9564	10	0.20046	T	0.44	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	212;212;54;212	Q9NTK5-3;D7EHM2;Q9NTK5-2;Q9NTK5	.;.;.;OLA1_HUMAN	K	212;54;212;232;54	ENSP00000284719:E212K;ENSP00000340167:E54K;ENSP00000410385:E212K;ENSP00000386350:E232K	ENSP00000284719:E212K	E	-	1	0	OLA1	174696248	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.362000	0.79507	2.685000	0.91497	0.650000	0.86243	GAA	OLA1	-	pirsf_CHP00092,tigrfam_CHP00092		0.289	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333877.1	C	NM_013341		174988002	-1	no_errors	ENST00000284719	ensembl	human	known	70_37	missense	SNP	1.000	T	T	174988002	C	T	174988002	3	4	171	1	0	0	0	0	1	0	0	0	10874	835	29	1	576	1	OLA1	2	174988002	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	2057631	174988002	68211371	24	32345										
NBEAL1	65065	genome.wustl.edu	37	chr2	204048102	204048102	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gatttcatctataaacatagGaaagctttggtaagagtttt	8	4	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:204048102G>C	ENST00000449802.1	+	43	6942	c.6609G>C	c.(6607-6609)agG>agC	p.R2203S		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2203	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATAAACATAGGAAAGCTTTGG	0.318																																																	0													71	71	71					2																	204048102		1806	4066	5872	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6609G>C	2.37:g.204048102G>C	ENSP00000399903:p.Arg2203Ser		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2203S	ENST00000449802.1	37	c.6609	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583156	0.65992	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	D;D	0.83419	-1.72;-1.72	6.02	0.507	0.16967	BEACH domain (4);	0.043084	0.85682	D	0.000000	D	0.92629	0.7658	H	0.96576	3.845	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91291	0.5059	10	0.87932	D	0	.	9.5839	0.39504	0.3991:0.0:0.6009:0.0	.	2203;2192	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	S	2203;2203;218	ENSP00000399903:R2203S;ENSP00000388466:R218S	ENSP00000344985:R2203S	R	+	3	2	NBEAL1	203756347	0.995000	0.38212	0.998000	0.56505	0.890000	0.51754	0.321000	0.19558	0.012000	0.14892	0.650000	0.86243	AGG	NBEAL1	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.318	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	G			204048102	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.994	C	C	204048102	G	C	204048102	3	2	171	1	0	0	0	0	1	0	0	0	10211	1165	41	1	6775	1	NBEAL1	2	204048102	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	29060100	204048102	39151271	25	32346										
TNS1	7145	genome.wustl.edu	37	chr2	218700857	218700857	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggcttctggagactggttctCatactgtccatcactggccg	11	12	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:218700857C>G	ENST00000171887.4	-	18	3162	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q	TNS1_ENST00000419504.1_Missense_Mutation_p.E904Q|TNS1_ENST00000430930.1_Missense_Mutation_p.E904Q	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	904					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACTGGTTCTCATACTGTCCA	0.637																																																	0													69	68	68					2																	218700857		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2710G>C	2.37:g.218700857C>G	ENSP00000171887:p.Glu904Gln		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E904Q	ENST00000171887.4	37	c.2710	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679844	0.47886	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91407	-2.84;2.21;-2.79;-2.82	5.38	5.38	0.77491	.	0.962661	0.08702	N	0.906329	D	0.89051	0.6605	N	0.12746	0.255	0.80722	D	1	B;D;B	0.57899	0.361;0.981;0.361	B;P;B	0.55055	0.069;0.767;0.07	T	0.83060	-0.0148	10	0.18276	T	0.48	.	18.0736	0.89421	0.0:1.0:0.0:0.0	.	904;904;904	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	Q	904;63;904;904	ENSP00000171887:E904Q;ENSP00000394171:E63Q;ENSP00000408724:E904Q;ENSP00000406016:E904Q	ENSP00000171887:E904Q	E	-	1	0	TNS1	218409102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.212000	0.51145	2.793000	0.96121	0.655000	0.94253	GAG	TNS1	-	NULL		0.637	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	C	NM_022648		218700857	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	missense	SNP	1.000	G	G	218700857	C	G	218700857	3	3	171	1	0	0	0	0	1	0	0	0	16373	835	29	1	2561	1	TNS1	2	218700857	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	14652755	218700857	24498516	26	32347										
CNTN4	152330	genome.wustl.edu	37	chr3	3081733	3081733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tttcccagacggtccctgagGaattacagaatggtcgaggc	12	10	0	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:3081733G>A	ENST00000397461.1	+	19	2560	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	CNTN4_ENST00000418658.1_Missense_Mutation_p.E726K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E507K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E398K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E726K|CNTN4_ENST00000448906.2_Missense_Mutation_p.E398K|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	726	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTCCCTGAGGAATTACAGAA	0.468																																																	0													102	91	95					3																	3081733		2203	4300	6503	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2176G>A	3.37:g.3081733G>A	ENSP00000380602:p.Glu726Lys		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E726K	ENST00000397461.1	37	c.2176	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880413	0.91740	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.09	5.09	0.68999	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.055305	0.64402	D	0.000001	T	0.73187	0.3555	M	0.88377	2.95	0.80722	D	1	P;D	0.56035	0.863;0.974	P;P	0.55615	0.771;0.78	T	0.78003	-0.2374	10	0.49607	T	0.09	.	18.8842	0.92368	0.0:0.0:1.0:0.0	.	725;726	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	K	726;726;726;507;398;398	ENSP00000396010:E726K;ENSP00000380602:E726K;ENSP00000413642:E726K;ENSP00000351267:E507K;ENSP00000380600:E398K;ENSP00000392077:E398K	ENSP00000351267:E507K	E	+	1	0	CNTN4	3056733	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.182000	0.94881	2.518000	0.84900	0.655000	0.94253	GAA	CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.468	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	G			3081733	1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3081733	G	A	3081733	3	1	171	1	0	0	0	0	1	0	0	0	3648	1175	41	1	2242	1	CNTN4	3	3081733	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		3081733	194940697	27	32348										
TTLL3	26140	genome.wustl.edu	37	chr3	9852359	9852359	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gtctcacatgaaccggctcaGaaacgccaaaatctacgtgg	9	12	3	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:9852359G>A	ENST00000547186.1	+	2	230	c.14G>A	c.(13-15)aGa>aAa	p.R5K	ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000397241.1_5'UTR|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000427853.3_5'Flank|TTLL3_ENST00000426895.4_Missense_Mutation_p.R148K	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	5					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AACCGGCTCAGAAACGCCAAA	0.622																																																	0													22	23	23					3																	9852359		1894	4107	6001	SO:0001583	missense	26140				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.14G>A	3.37:g.9852359G>A	ENSP00000446659:p.Arg5Lys		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R148K	ENST00000547186.1	37	c.443		3	.	.	.	.	.	.	.	.	.	.	g	1.735	-0.493068	0.04322	.	.	ENSG00000214021	ENST00000414814;ENST00000452597;ENST00000419081;ENST00000438596;ENST00000417065;ENST00000439814;ENST00000418745;ENST00000430718;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000422738	T;T;T;T;T;T;T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23	4.36	0.76	0.18442	.	.	.	.	.	T	0.02888	0.0086	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.43261	-0.9402	8	0.02654	T	1	.	5.4306	0.16450	0.6172:0.0:0.3828:0.0	.	5	Q9Y4R7	TTLL3_HUMAN	K	5;5;5;5;5;5;5;5;148;5;5;5	ENSP00000399930:R5K;ENSP00000399782:R5K;ENSP00000401686:R5K;ENSP00000414965:R5K;ENSP00000408128:R5K;ENSP00000394481:R5K;ENSP00000400462:R5K;ENSP00000402197:R5K;ENSP00000392549:R148K;ENSP00000446659:R5K;ENSP00000389904:R5K;ENSP00000412915:R5K	ENSP00000399930:R5K	R	+	2	0	TTLL3	9827359	0.483000	0.25956	0.984000	0.44739	0.448000	0.32197	0.950000	0.29122	0.241000	0.21283	-0.457000	0.05445	AGA	TTLL3	-	NULL		0.622	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		G	NM_001025930.2		9852359	1	no_errors	ENST00000426895	ensembl	human	known	70_37	missense	SNP	0.952	A	A	9852359	G	A	9852359	3	1	171	1	0	0	0	0	1	0	0	0	16759	942	33	1	16	1	TTLL3	3	9852359	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	6770626	9852359	188170071	28	32349										
ZNF501	115560	genome.wustl.edu	37	chr3	44776204	44776204	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcaattcttgttcagcatctGagaattcatactggagagaa	9	7	4	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:44776204G>C	ENST00000396048.2	+	3	728	c.291G>C	c.(289-291)ctG>ctC	p.L97L	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TTCAGCATCTGAGAATTCATA	0.373																																																	0													74	86	82					3																	44776204		2196	4300	6496	SO:0001819	synonymous_variant	115560			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"Zinc fingers, C2H2-type"	23717	protein-coding gene	gene with protein product			"zinc finger protein 52"	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.291G>C	3.37:g.44776204G>C			B4DLY7|Q96NU9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L97	ENST00000396048.2	37	c.291	CCDS2720.2	3																																																																																			ZNF501	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF501	HGNC	protein_coding	OTTHUMT00000256654.4	G	NM_145044		44776204	1	no_errors	ENST00000396048	ensembl	human	known	70_37	silent	SNP	1.000	C	C	44776204	G	C	44776204	2	2	171	1	0	0	0	0	0	0	0	1	17979	1277	45	1		1	ZNF501	3	44776204	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	34923845	44776204	153246226	29	32350										
CLEC3B	7123	genome.wustl.edu	37	chr3	45077054	45077054	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aggtgcacatgaaatgctttCtggccttcacccagacgaag	10	11	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:45077054C>G	ENST00000296130.4	+	3	427	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V	CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA|CLEC3B_ENST00000428034.1_Missense_Mutation_p.L41V	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	83	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	GAAATGCTTTCTGGCCTTCAC	0.627																																					GBM(139;1487 3263 30871)												0													67	59	62					3																	45077054		2203	4300	6503	SO:0001583	missense	7123				CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"C-type lectin domain containing"	11891	protein-coding gene	gene with protein product		187520	"tetranectin (plasminogen binding protein)"	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.247C>G	3.37:g.45077054C>G	ENSP00000296130:p.Leu83Val		Q6FGX6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L83V	ENST00000296130.4	37	c.247	CCDS2726.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932682	0.73442	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.30714	1.52;1.52	4.53	4.53	0.55603	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.64402	D	0.000002	T	0.53206	0.1782	M	0.67517	2.055	0.58432	D	0.999998	D	0.71674	0.998	D	0.85130	0.997	T	0.49194	-0.8965	10	0.25751	T	0.34	-16.247	17.6076	0.88042	0.0:1.0:0.0:0.0	.	83	P05452	TETN_HUMAN	V	83;41	ENSP00000296130:L83V;ENSP00000396013:L41V	ENSP00000296130:L83V	L	+	1	2	CLEC3B	45052058	0.998000	0.40836	0.997000	0.53966	0.931000	0.56810	3.710000	0.54860	2.235000	0.73313	0.561000	0.74099	CTG	CLEC3B	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.627	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC3B	HGNC	protein_coding	OTTHUMT00000256745.1	C	NM_003278		45077054	1	no_errors	ENST00000296130	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45077054	C	G	45077054	3	3	171	1	0	0	0	0	1	0	0	0	3516	912	32	1	257	1	CLEC3B	3	45077054	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	300850	45077054	152945376	30	32351										
KLHL18	23276	genome.wustl.edu	37	chr3	47384226	47384226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aagatggacagtggtgacctCgatgagctcgaatcgcagtg	14	8	0	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:47384226C>T	ENST00000232766.5	+	9	1264	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	KLHL18_ENST00000455924.2_Missense_Mutation_p.S303L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	415										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GTGGTGACCTCGATGAGCTCG	0.507																																																	0													173	146	155					3																	47384226		2203	4300	6503	SO:0001583	missense	23276			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1244C>T	3.37:g.47384226C>T	ENSP00000232766:p.Ser415Leu		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S415L	ENST00000232766.5	37	c.1244	CCDS33749.1	3	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758661	0.69763	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.81415	-1.49;-1.49	5.5	5.5	0.81552	Galactose oxidase, beta-propeller (1);	0.189210	0.46758	D	0.000280	D	0.90943	0.7153	H	0.97265	3.97	0.25196	N	0.990099	B	0.28713	0.22	B	0.41088	0.347	D	0.84274	0.0490	10	0.51188	T	0.08	.	18.7421	0.91777	0.0:1.0:0.0:0.0	.	415	O94889	KLH18_HUMAN	L	415;303	ENSP00000232766:S415L;ENSP00000405585:S303L	ENSP00000232766:S415L	S	+	2	0	KLHL18	47359230	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.972000	0.70448	2.740000	0.93945	0.650000	0.86243	TCG	KLHL18	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.507	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	HGNC	protein_coding	OTTHUMT00000344493.1	C	NM_025010		47384226	1	no_errors	ENST00000232766	ensembl	human	known	70_37	missense	SNP	0.999	T	T	47384226	C	T	47384226	3	4	171	1	0	0	0	0	1	0	0	0	8393	893	31	1	1278	1	KLHL18	3	47384226	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	2307172	47384226	150638204	31	32352										
CRYBG3	131544	genome.wustl.edu	37	chr3	97652615	97652615	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttacatctagaagaggctgtGaactctgttctgaacaagga	10	7	3	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:97652615G>C	ENST00000182096.4	+	15	2539	c.2475G>C	c.(2473-2475)gtG>gtC	p.V825V	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.V32V	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2773							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAGAGGCTGTGAACTCTGTTC	0.438																																																	0													142	136	138					3																	97652615		1869	4089	5958	SO:0001819	synonymous_variant	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2475G>C	3.37:g.97652615G>C			B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.V825	ENST00000182096.4	37	c.2475		3																																																																																			CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin		0.438	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	G	NM_153605		97652615	1	no_errors	ENST00000182096	ensembl	human	known	70_37	silent	SNP	1.000	C	C	97652615	G	C	97652615	2	2	171	1	0	0	0	0	0	0	0	1	3918	1277	45	1		1	CRYBG3	3	97652615	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	50268389	97652615	100369815	32	32353										
BTLA	151888	genome.wustl.edu	37	chr3	112198418	112198418	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	caaaatgtagaatgaaaaatGaaatgttcttctcttccttc	5	7	2	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:112198418G>A	ENST00000334529.5	-	2	489	c.287C>T	c.(286-288)tCa>tTa	p.S96L	BTLA_ENST00000383680.4_Missense_Mutation_p.S96L	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	96	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				AATGAAAAATGAAATGTTCTT	0.388																																																	0													180	174	176					3																	112198418		2203	4300	6503	SO:0001583	missense	151888			AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.287C>T	3.37:g.112198418G>A	ENSP00000333919:p.Ser96Leu		Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.S96L	ENST00000334529.5	37	c.287	CCDS33819.1	3	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240642	0.22711	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.42131	0.98;0.98	3.42	3.42	0.39159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.433846	0.17120	N	0.186255	T	0.51244	0.1663	L	0.38838	1.175	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.977;0.996	T	0.28267	-1.0049	10	0.54805	T	0.06	-1.9519	10.6316	0.45541	0.0:0.0:1.0:0.0	.	96;96	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	L	96	ENSP00000333919:S96L;ENSP00000373178:S96L	ENSP00000333919:S96L	S	-	2	0	BTLA	113681108	0.006000	0.16342	0.012000	0.15200	0.074000	0.17049	0.812000	0.27211	2.214000	0.71695	0.655000	0.94253	TCA	BTLA	-	smart_Ig_sub,pfscan_Ig-like		0.388	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTLA	HGNC	protein_coding	OTTHUMT00000354101.1	G	NM_181780		112198418	-1	no_errors	ENST00000334529	ensembl	human	known	70_37	missense	SNP	0.013	A	A	112198418	G	A	112198418	3	1	171	1	0	0	0	0	1	0	0	0	1561	1294	45	1	598	1	BTLA	3	112198418	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	14545803	112198418	85824012	33	32354										
AMOTL2	51421	genome.wustl.edu	37	chr3	134085180	134085180	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	atttcactgtccatcttgttCcgcatggtcttctccagggc	8	13	4	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:134085180C>T	ENST00000422605.2	-	4	1297	c.1131G>A	c.(1129-1131)cgG>cgA	p.R377R	AMOTL2_ENST00000513145.1_Silent_p.R377R|AMOTL2_ENST00000249883.5_Silent_p.R377R|AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000514516.1_Silent_p.R435R			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	377					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CCATCTTGTTCCGCATGGTCT	0.567																																																	0													200	198	199					3																	134085180		2203	4300	6503	SO:0001819	synonymous_variant	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1131G>A	3.37:g.134085180C>T			A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R377	ENST00000422605.2	37	c.1131		3																																																																																			AMOTL2	-	prints_Angiomotin		0.567	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	C	NM_016201		134085180	-1	no_errors	ENST00000249883	ensembl	human	known	70_37	silent	SNP	1.000	T	T	134085180	C	T	134085180	2	4	171	1	0	0	0	0	0	0	0	1	584	842	30	1		1	AMOTL2	3	134085180	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	21886762	134085180	63937250	34	32355										
ZBTB38	253461	genome.wustl.edu	37	chr3	141164491	141164491	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ctcaaaatccatgaaagaatCcatactggagaaaagcgtta	7	8	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:141164491C>T	ENST00000514251.1	+	4	3540	c.3261C>T	c.(3259-3261)atC>atT	p.I1087I	ZBTB38_ENST00000321464.5_Silent_p.I1088I|ZBTB38_ENST00000441582.2_Silent_p.I1087I					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATGAAAGAATCCATACTGGAG	0.443																																																	0													87	86	86					3																	141164491		1970	4168	6138	SO:0001819	synonymous_variant	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3261C>T	3.37:g.141164491C>T				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I1088	ENST00000514251.1	37	c.3264	CCDS43157.1	3																																																																																			ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	C			141164491	1	no_errors	ENST00000321464	ensembl	human	known	70_37	silent	SNP	1.000	T	T	141164491	C	T	141164491	2	4	171	1	0	0	0	0	0	0	0	1	17569	845	30	1		1	ZBTB38	3	141164491	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	7079311	141164491	56857939	35	32356										
CCNL1	57018	genome.wustl.edu	37	chr3	156866059	156866059	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gtgcctgccatgtcctgagcGactgccaccatggtgcttgc	12	14	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:156866059G>C	ENST00000295926.3	-	11	1670	c.1552C>G	c.(1552-1554)Cgc>Ggc	p.R518G	CCNL1_ENST00000461804.1_Intron|CCNL1_ENST00000479052.1_5'Flank	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	518					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TGTCCTGAGCGACTGCCACCA	0.507																																																	0													131	112	118					3																	156866059		2203	4300	6503	SO:0001583	missense	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1552C>G	3.37:g.156866059G>C	ENSP00000295926:p.Arg518Gly		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.R518G	ENST00000295926.3	37	c.1552	CCDS3178.1	3	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394545	0.62066	.	.	ENSG00000163660	ENST00000295926	T	0.23552	1.9	5.4	5.4	0.78164	.	0.114561	0.64402	D	0.000008	T	0.18383	0.0441	N	0.22421	0.69	0.80722	D	1	P	0.38827	0.649	B	0.28465	0.09	T	0.04229	-1.0967	10	0.59425	D	0.04	-4.7809	19.1698	0.93572	0.0:0.0:1.0:0.0	.	518	Q9UK58	CCNL1_HUMAN	G	518	ENSP00000295926:R518G	ENSP00000295926:R518G	R	-	1	0	CCNL1	158348753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.698000	0.91311	2.523000	0.85059	0.557000	0.71058	CGC	CCNL1	-	pirsf_Cyclin_L		0.507	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1	G	NM_020307		156866059	-1	no_errors	ENST00000295926	ensembl	human	known	70_37	missense	SNP	1.000	C	C	156866059	G	C	156866059	3	2	171	1	0	0	0	0	1	0	0	0	2936	1058	37	1	32	1	CCNL1	3	156866059	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	15701568	156866059	41156371	36	32357										
MAP6D1	79929	genome.wustl.edu	37	chr3	183542976	183542976	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcagccgcgtccgcgtcgccGatgggcagcacgtagacccc	14	17	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:183542976G>C	ENST00000318631.3	-	1	390	c.360C>G	c.(358-360)atC>atG	p.I120M	MAP6D1_ENST00000431348.1_Missense_Mutation_p.I120M|MAP6D1_ENST00000463801.1_5'UTR	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	120					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|N-terminal peptidyl-L-cysteine N-palmitoylation (GO:0018009)|negative regulation of microtubule depolymerization (GO:0007026)	cis-Golgi network (GO:0005801)|Golgi-associated vesicle (GO:0005798)|microtubule (GO:0005874)				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCGTCGCCGATGGGCAGCA	0.756																																																	0													2	3	3					3																	183542976		1627	3425	5052	SO:0001583	missense	79929			BC006434	CCDS3247.1	3q27.1	2005-12-22			ENSG00000180834	ENSG00000180834			25753	protein-coding gene	gene with protein product		610593				12477932	Standard	NM_024871		Approved	FLJ12748	uc003fmc.2	Q9H9H5	OTTHUMG00000156900	ENST00000318631.3:c.360C>G	3.37:g.183542976G>C	ENSP00000314560:p.Ile120Met			Missense_Mutation	SNP	pfam_STOP/FAM154	p.I120M	ENST00000318631.3	37	c.360	CCDS3247.1	3	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355950	0.41700	.	.	ENSG00000180834	ENST00000318631;ENST00000431348	T;T	0.19250	2.16;2.16	2.57	-0.315	0.12746	.	1.248730	0.06061	U	0.658314	T	0.18964	0.0455	N	0.22421	0.69	0.09310	N	1	P	0.38992	0.653	P	0.45310	0.476	T	0.35500	-0.9786	10	0.48119	T	0.1	.	6.4795	0.22055	0.3742:0.0:0.6258:0.0	.	120	Q9H9H5	MA6D1_HUMAN	M	120	ENSP00000314560:I120M;ENSP00000388945:I120M	ENSP00000314560:I120M	I	-	3	3	MAP6D1	185025670	0.094000	0.21725	0.359000	0.25824	0.067000	0.16453	-0.396000	0.07278	-0.100000	0.12241	-0.463000	0.05309	ATC	MAP6D1	-	NULL		0.756	MAP6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP6D1	HGNC	protein_coding	OTTHUMT00000346516.1	G	NM_024871		183542976	-1	no_errors	ENST00000318631	ensembl	human	known	70_37	missense	SNP	0.003	C	C	183542976	G	C	183542976	3	2	171	1	0	0	0	0	1	0	0	0	9288	1048	37	1	251	1	MAP6D1	3	183542976	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	26676917	183542976	14479454	37	32358										
PIGX	54965	genome.wustl.edu	37	chr3	196449344	196449344	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aggacttgcacacctgccgtCtcttaattaaacaggacatt	7	11	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:196449344C>G	ENST00000421265.1	+	3	165	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000314118.4_Missense_Mutation_p.L38V|PIGX_ENST00000541663.1_5'UTR			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	79					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.L38I(1)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		CACCTGCCGTCTCTTAATTAA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											171	173	172					3																	196449344		2203	4300	6503	SO:0001583	missense	54965			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"Phosphatidylinositol glycan anchor biosynthesis"	26046	protein-coding gene	gene with protein product		610276	"phosphatidylinositol glycan, class X"			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.112C>G	3.37:g.196449344C>G	ENSP00000416446:p.Leu38Val		Q9NWZ2	Missense_Mutation	SNP	pfam_PIG-X/PBN1,smart_PIG-X/PBN1	p.L79V	ENST00000421265.1	37	c.235		3	.	.	.	.	.	.	.	.	.	.	C	4.774	0.143926	0.09134	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000451319	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	6.05	5.16	0.70880	.	0.149777	0.44097	D	0.000491	T	0.21227	0.0511	N	0.17278	0.47	0.80722	D	1	B;B	0.16396	0.017;0.002	B;B	0.16289	0.015;0.011	T	0.07271	-1.0781	10	0.12430	T	0.62	-11.7553	12.2837	0.54779	0.0:0.7415:0.2585:0.0	.	79;79	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	V	38;79;38;79;38;38	ENSP00000409073:L38V;ENSP00000376192:L79V;ENSP00000317301:L38V;ENSP00000296333:L79V;ENSP00000416446:L38V;ENSP00000390804:L38V	ENSP00000296333:L79V	L	+	1	0	PIGX	197933741	0.999000	0.42202	1.000000	0.80357	0.791000	0.44710	1.432000	0.34936	2.880000	0.98712	0.655000	0.94253	CTC	PIGX	-	pfam_PIG-X/PBN1,smart_PIG-X/PBN1		0.398	PIGX-008	PUTATIVE	basic	protein_coding	PIGX	HGNC	protein_coding	OTTHUMT00000340684.1	C	NM_017861		196449344	1	no_errors	ENST00000296333	ensembl	human	known	70_37	missense	SNP	1.000	G	G	196449344	C	G	196449344	3	3	171	1	0	0	0	0	1	0	0	0	11927	913	32	1	245	1	PIGX	3	196449344	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	12906368	196449344	1573086	38	32359										
TACC3	10460	genome.wustl.edu	37	chr4	1746446	1746446	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cctacccctccagggcaaacGaggagatcgcccaggtccgg	12	16	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:1746446G>T	ENST00000313288.4	+	15	2444	c.2338G>T	c.(2338-2340)Gag>Tag	p.E780*		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	780					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E780delE(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGGCAAACGAGGAGATCGC	0.682																																					Ovarian(120;482 2294 11894 35824)												1	Deletion - In frame(1)	prostate(1)											18	21	20					4																	1746446		2201	4298	6499	SO:0001587	stop_gained	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2338G>T	4.37:g.1746446G>T	ENSP00000326550:p.Glu780*		Q2NKK4|Q3KQS5|Q9UMQ1	Nonsense_Mutation	SNP	pfam_TACC	p.E780*	ENST00000313288.4	37	c.2338	CCDS3352.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.576866	0.98368	.	.	ENSG00000013810	ENST00000313288	.	.	.	5.21	4.38	0.52667	.	0.000000	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-45.7571	13.5232	0.61580	0.0758:0.0:0.9242:0.0	.	.	.	.	X	780	.	ENSP00000326550:E780X	E	+	1	0	TACC3	1716244	1.000000	0.71417	0.893000	0.35052	0.616000	0.37450	5.921000	0.70028	1.439000	0.47511	-0.136000	0.14681	GAG	TACC3	-	pfam_TACC		0.682	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2	G			1746446	1	no_errors	ENST00000313288	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	1746446	G	T	1746446	4	4	171	1	0	0	0	0	0	1	0	0	15533	1059	37	3	2392	3	TACC3	4	1746446	Nonsense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		1746446	189407830	39	32360										
ZBTB49	166793	genome.wustl.edu	37	chr4	4322678	4322678	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aaaattctgtggcagaatttGatagccactctggcggctcc	10	10	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:4322678G>A	ENST00000337872.4	+	8	2054	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	ZBTB49_ENST00000355834.3_Missense_Mutation_p.D523N|ZBTB49_ENST00000538529.1_Missense_Mutation_p.D128N|RP11-265O12.1_ENST00000509015.1_lincRNA	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GGCAGAATTTGATAGCCACTC	0.498																																																	0													33	36	35					4																	4322678		2203	4300	6503	SO:0001583	missense	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1933G>A	4.37:g.4322678G>A	ENSP00000338807:p.Asp645Asn		Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D645N	ENST00000337872.4	37	c.1933	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688479	0.48097	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14516	2.5;2.87;3.18	4.19	3.32	0.38043	.	0.163075	0.28748	N	0.014277	T	0.16769	0.0403	M	0.65975	2.015	0.09310	N	1	B;B	0.25609	0.13;0.058	B;B	0.28849	0.095;0.042	T	0.20306	-1.0279	10	0.15952	T	0.53	.	14.0057	0.64461	0.0:0.1528:0.8472:0.0	.	523;645	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	N	523;645;128	ENSP00000348091:D523N;ENSP00000338807:D645N;ENSP00000445653:D128N	ENSP00000338807:D645N	D	+	1	0	ZBTB49	4373579	0.988000	0.35896	0.002000	0.10522	0.107000	0.19398	3.870000	0.56070	0.859000	0.35456	0.455000	0.32223	GAT	ZBTB49	-	NULL		0.498	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	G	NM_145291		4322678	1	no_errors	ENST00000337872	ensembl	human	known	70_37	missense	SNP	0.040	A	A	4322678	G	A	4322678	3	1	171	1	0	0	0	0	1	0	0	0	17580	1290	45	1	1959	1	ZBTB49	4	4322678	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	2576232	4322678	186831598	40	32361										
CC2D2A	57545	genome.wustl.edu	37	chr4	15597793	15597793	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gctatggaaatctttcttttCaagaagccttccatatcctg	6	10	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:15597793C>G	ENST00000503292.1	+	35	4580	c.4400C>G	c.(4399-4401)tCa>tGa	p.S1467*	CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.S1359*|CC2D2A_ENST00000424120.1_Nonsense_Mutation_p.S1467*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.S1467*	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1467					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TCTTTCTTTTCAAGAAGCCTT	0.333																																																	0													49	45	47					4																	15597793		1775	3996	5771	SO:0001587	stop_gained	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4400C>G	4.37:g.15597793C>G	ENSP00000421809:p.Ser1467*		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Nonsense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.S1467*	ENST00000503292.1	37	c.4400	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.256952	0.99651	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	.	.	.	5.69	5.69	0.88448	.	0.135253	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.7919	0.96463	0.0:1.0:0.0:0.0	.	.	.	.	X	1467;1467;1359;1359;1467;1359	.	ENSP00000374303:S1359X	S	+	2	0	CC2D2A	15206891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.682000	0.91365	0.585000	0.79938	TCA	CC2D2A	-	NULL		0.333	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	C	NM_001080522		15597793	1	no_errors	ENST00000413206	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	15597793	C	G	15597793	4	3	171	1	0	0	0	0	0	1	0	0	2733	838	29	1	4733	1	CC2D2A	4	15597793	Nonsense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	11275115	15597793	175556483	41	32362										
FRAS1	80144	genome.wustl.edu	37	chr4	79308769	79308769	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	actatgctcatgatggttcaGacagcacatccgatgttgca	9	10	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:79308769G>C	ENST00000325942.6	+	29	4329	c.3889G>C	c.(3889-3891)Gac>Cac	p.D1297H	FRAS1_ENST00000264895.6_Missense_Mutation_p.D1297H	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1297					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGATGGTTCAGACAGCACATC	0.493																																																	0													67	63	65					4																	79308769		1979	4155	6134	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3889G>C	4.37:g.79308769G>C	ENSP00000326330:p.Asp1297His		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.D1297H	ENST00000325942.6	37	c.3889	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902527	0.52227	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.31510	1.49;1.49	5.78	4.02	0.46733	.	0.422387	0.26453	N	0.024296	T	0.46034	0.1372	M	0.77820	2.39	0.42541	D	0.993072	D;D	0.63880	0.974;0.993	P;P	0.53062	0.717;0.672	T	0.50857	-0.8778	10	0.87932	D	0	.	10.8145	0.46567	0.0706:0.1316:0.7978:0.0	.	1297;1297	E9PHH6;A2RRR8	.;.	H	1297	ENSP00000326330:D1297H;ENSP00000264895:D1297H	ENSP00000264895:D1297H	D	+	1	0	FRAS1	79527793	0.975000	0.34042	0.014000	0.15608	0.737000	0.42083	3.168000	0.50801	0.864000	0.35578	0.591000	0.81541	GAC	FRAS1	-	NULL		0.493	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	G			79308769	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.149	C	C	79308769	G	C	79308769	3	2	171	1	0	0	0	0	1	0	0	0	6060	942	33	1	4003	1	FRAS1	4	79308769	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	63710976	79308769	111845507	42	32363										
PRKG2	5593	genome.wustl.edu	37	chr4	82027008	82027008	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcctcaggtcgtcgtgttatCttcctgggaaaatccatttt	8	10	2	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:82027008C>G	ENST00000395578.1	-	16	2138	c.2022G>C	c.(2020-2022)aaG>aaC	p.K674N	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.K254N|PRKG2_ENST00000418486.2_Missense_Mutation_p.K645N|PRKG2_ENST00000264399.1_Missense_Mutation_p.K674N			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	674	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GTCGTGTTATCTTCCTGGGAA	0.428																																																	0													133	127	129					4																	82027008		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.2022G>C	4.37:g.82027008C>G	ENSP00000378945:p.Lys674Asn		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.K674N	ENST00000395578.1	37	c.2022	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	c	9.661	1.144243	0.21205	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.41	0.498	0.16908	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175610	0.64402	D	0.000011	T	0.41834	0.1176	N	0.17674	0.51	0.44745	D	0.997745	B;B	0.09022	0.0;0.002	B;B	0.12837	0.005;0.008	T	0.05022	-1.0911	10	0.21014	T	0.42	-25.3915	3.872	0.09041	0.2646:0.2951:0.0:0.4404	.	645;674	E7EPE6;Q13237	.;KGP2_HUMAN	N	674;674;645;254	ENSP00000378945:K674N;ENSP00000264399:K674N;ENSP00000389038:K645N;ENSP00000439967:K254N	ENSP00000264399:K674N	K	-	3	2	PRKG2	82246032	0.603000	0.26924	0.998000	0.56505	0.935000	0.57460	-0.159000	0.10056	0.033000	0.15463	0.491000	0.48974	AAG	PRKG2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom		0.428	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	C	NM_006259		82027008	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	missense	SNP	0.973	G	G	82027008	C	G	82027008	3	3	171	1	0	0	0	0	1	0	0	0	12550	912	32	1	282	1	PRKG2	4	82027008	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	2718239	82027008	109127268	43	32364										
SMARCAD1	56916	genome.wustl.edu	37	chr4	95129564	95129564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	atatgaatcttttcaacctgGaccgttttcgctttgagaaa	7	8	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:95129564G>T	ENST00000354268.4	+	2	92	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	RP11-363G15.2_ENST00000501965.2_lincRNA|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D7Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	7					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTCAACCTGGACCGTTTTCG	0.463																																																	0													92	103	99					4																	95129564		2203	4300	6503	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.19G>T	4.37:g.95129564G>T	ENSP00000346217:p.Asp7Tyr		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D7Y	ENST00000354268.4	37	c.19	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937645	0.73557	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.50813	0.73;0.73;0.73	5.36	5.36	0.76844	.	0.000000	0.34700	N	0.003752	T	0.55353	0.1915	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.99;0.996	T	0.60010	-0.7346	10	0.87932	D	0	-15.5764	14.583	0.68305	0.0:0.0:1.0:0.0	.	7;7	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Y	7	ENSP00000351947:D7Y;ENSP00000415576:D7Y;ENSP00000346217:D7Y	ENSP00000346217:D7Y	D	+	1	0	SMARCAD1	95348587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.930000	0.63462	2.491000	0.84063	0.561000	0.74099	GAC	SMARCAD1	-	NULL		0.463	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	G	NM_020159		95129564	1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95129564	G	T	95129564	3	4	171	1	0	0	0	0	1	0	0	0	14802	1174	41	3	21	3	SMARCAD1	4	95129564	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	13102556	95129564	96024712	44	32365										
SYNPO2	171024	genome.wustl.edu	37	chr4	119951944	119951944	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agcgaatagcttcccgagatGagaggatctcagtgccagca	12	10	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:119951944G>C	ENST00000429713.2	+	4	2196	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q	SYNPO2_ENST00000434046.2_Missense_Mutation_p.E672Q|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.E672Q	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	672						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTCCCGAGATGAGAGGATCTC	0.532																																																	0													71	77	75					4																	119951944		2203	4300	6503	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2014G>C	4.37:g.119951944G>C	ENSP00000395143:p.Glu672Gln		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E672Q	ENST00000429713.2	37	c.2014	CCDS47129.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.29|15.29	2.788839|2.788839	0.49997|0.49997	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.10099|.	2.91;2.98;2.96|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|.	0.72890|.	0.3517|.	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.89917|.	0.876;0.995;0.876;1.0|.	P;D;P;D|.	0.83275|.	0.807;0.909;0.807;0.996|.	T|.	0.72947|.	-0.4137|.	9|.	.|.	.|.	.|.	-25.1648|-25.1648	14.3138|14.3138	0.66434|0.66434	0.0:0.1484:0.8516:0.0|0.0:0.1484:0.8516:0.0	.|.	672;672;672;672|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	Q|S	672|623	ENSP00000306015:E672Q;ENSP00000395143:E672Q;ENSP00000390965:E672Q|.	.|.	E|X	+|+	1|2	0|2	SYNPO2|SYNPO2	120171392|120171392	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.774000|0.774000	0.43823|0.43823	6.514000|6.514000	0.73746|0.73746	2.413000|2.413000	0.81919|0.81919	0.655000|0.655000	0.94253|0.94253	GAG|TGA	SYNPO2	-	NULL		0.532	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	G			119951944	1	no_errors	ENST00000307142	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119951944	G	C	119951944	3	2	171	1	0	0	0	0	1	0	0	0	15487	1291	45	1	2028	1	SYNPO2	4	119951944	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	24822380	119951944	71202332	45	32366										
PDE5A	8654	genome.wustl.edu	37	chr4	120440276	120440276	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aatcagcaatgcaagtatctCcaggtcagtcagcttgttct	8	10	5	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:120440276C>G	ENST00000354960.3	-	14	2243	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	PDE5A_ENST00000394439.1_Missense_Mutation_p.E590Q|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.E600Q|PDE5A_ENST00000512739.1_5'Flank	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	642	Catalytic. {ECO:0000250}.			E -> G (in Ref. 4; BAA81667). {ECO:0000305}.	blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GCAAGTATCTCCAGGTCAGTC	0.413																																																	0													129	107	115					4																	120440276		2203	4300	6503	SO:0001583	missense	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1924G>C	4.37:g.120440276C>G	ENSP00000347046:p.Glu642Gln		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E642Q	ENST00000354960.3	37	c.1924	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.123544	0.94429	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.84730	-1.89;-1.89;-1.89	5.46	5.46	0.80206	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.93621	0.7963	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94534	0.7739	10	0.87932	D	0	.	17.5021	0.87734	0.0:1.0:0.0:0.0	.	642;600	O76074;O76074-2	PDE5A_HUMAN;.	Q	642;590;600	ENSP00000347046:E642Q;ENSP00000377957:E590Q;ENSP00000264805:E600Q	ENSP00000264805:E600Q	E	-	1	0	PDE5A	120659724	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.431000	0.80335	2.573000	0.86826	0.655000	0.94253	GAG	PDE5A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.413	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	C	NM_001083		120440276	-1	no_errors	ENST00000354960	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120440276	C	G	120440276	3	3	171	1	0	0	0	0	1	0	0	0	11668	864	30	1	735	1	PDE5A	4	120440276	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	488332	120440276	70714000	46	32367										
SLC7A11	23657	genome.wustl.edu	37	chr4	139135743	139135743	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	acatctggctacttacttttCagggttttctacttcttcag	6	10	5	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:139135743C>T	ENST00000280612.5	-	6	1066	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	263					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ACTTACTTTTCAGGGTTTTCT	0.279																																																	0													47	55	52					4																	139135743		2198	4288	6486	SO:0001583	missense	23657			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.787G>A	4.37:g.139135743C>T	ENSP00000280612:p.Glu263Lys		A8K2U4	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.E263K	ENST00000280612.5	37	c.787	CCDS3742.1	4	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609214	0.46527	.	.	ENSG00000151012	ENST00000280612	D	0.88046	-2.33	5.49	5.49	0.81192	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	L	0.29908	0.895	0.58432	D	0.999999	B	0.20368	0.044	B	0.29353	0.101	T	0.77130	-0.2701	10	0.27785	T	0.31	.	19.3602	0.94434	0.0:1.0:0.0:0.0	.	263	Q9UPY5	XCT_HUMAN	K	263	ENSP00000280612:E263K	ENSP00000280612:E263K	E	-	1	0	SLC7A11	139355193	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.020000	0.70826	2.579000	0.87056	0.561000	0.74099	GAA	SLC7A11	-	pfam_AA-permease_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter		0.279	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2	C			139135743	-1	no_errors	ENST00000280612	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139135743	C	T	139135743	3	4	171	1	0	0	0	0	1	0	0	0	14724	835	29	1	746	1	SLC7A11	4	139135743	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	18695467	139135743	52018533	47	32368										
TIGD4	201798	genome.wustl.edu	37	chr4	153691340	153691340	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ctgggcttgaaattcctcatCaagctttcgcatccattgtt	7	11	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:153691340C>G	ENST00000304337.2	-	2	1637	c.817G>C	c.(817-819)Gat>Cat	p.D273H		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	273	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AATTCCTCATCAAGCTTTCGC	0.393																																																	0													127	133	131					4																	153691340		2203	4300	6503	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.817G>C	4.37:g.153691340C>G	ENSP00000355162:p.Asp273His		Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.D273H	ENST00000304337.2	37	c.817	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042185	0.55003	.	.	ENSG00000169989	ENST00000304337	T	0.51574	0.7	6.03	6.03	0.97812	.	0.000000	0.51477	D	0.000086	T	0.72993	0.3530	M	0.81942	2.565	0.47183	D	0.999345	D	0.89917	1.0	D	0.87578	0.998	T	0.74231	-0.3732	10	0.72032	D	0.01	-29.2392	20.1672	0.98154	0.0:1.0:0.0:0.0	.	273	Q8IY51	TIGD4_HUMAN	H	273	ENSP00000355162:D273H	ENSP00000355162:D273H	D	-	1	0	TIGD4	153910790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.463000	0.66712	2.861000	0.98227	0.655000	0.94253	GAT	TIGD4	-	pfam_DDE_SF_endonuclease_CENPB-like		0.393	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	C	NM_145720		153691340	-1	no_errors	ENST00000304337	ensembl	human	known	70_37	missense	SNP	1.000	G	G	153691340	C	G	153691340	3	3	171	1	0	0	0	0	1	0	0	0	15928	826	29	1	725	1	TIGD4	4	153691340	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	14555597	153691340	37462936	48	32369			1	131		3	3	697	C		1.353702e-05
TIGD4	201798	genome.wustl.edu	37	chr4	153692024	153692024	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	atttttctttattccatattCagcagcaatctctgcttttt	3	9	3	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:153692024C>T	ENST00000304337.2	-	2	953	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	45	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ATTCCATATTCAGCAGCAATC	0.338																																																	0													90	89	90					4																	153692024		2203	4300	6503	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.133G>A	4.37:g.153692024C>T	ENSP00000355162:p.Glu45Lys		Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E45K	ENST00000304337.2	37	c.133	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675603	0.29783	.	.	ENSG00000169989	ENST00000304337	T	0.47528	0.84	6.17	5.23	0.72850	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.118480	0.38381	N	0.001710	T	0.31857	0.0810	L	0.40543	1.245	0.41711	D	0.989454	B	0.12013	0.005	B	0.12156	0.007	T	0.19614	-1.0300	10	0.12103	T	0.63	-33.295	5.3424	0.15990	0.0:0.8032:0.0:0.1968	.	45	Q8IY51	TIGD4_HUMAN	K	45	ENSP00000355162:E45K	ENSP00000355162:E45K	E	-	1	0	TIGD4	153911474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.765000	0.38481	2.941000	0.99782	0.655000	0.94253	GAA	TIGD4	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq		0.338	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	C	NM_145720		153692024	-1	no_errors	ENST00000304337	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153692024	C	T	153692024	3	4	171	1	0	0	0	0	1	0	0	0	15928	835	29	1	1409	1	TIGD4	4	153692024	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	684	153692024	37462252	49	32370			1	131		3	3	697	C		1.353702e-05
TIGD4	201798	genome.wustl.edu	37	chr4	153692036	153692036	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tccatattcagcagcaatctCtgcttttttcttgccacttt	4	12	3	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:153692036C>T	ENST00000304337.2	-	2	941	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	41	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GCAGCAATCTCTGCTTTTTTC	0.353																																																	0													107	105	106					4																	153692036		2203	4300	6503	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.121G>A	4.37:g.153692036C>T	ENSP00000355162:p.Glu41Lys		Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E41K	ENST00000304337.2	37	c.121	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922894	0.73213	.	.	ENSG00000169989	ENST00000304337	T	0.47177	0.85	6.17	6.17	0.99709	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.52532	D	0.000079	T	0.52403	0.1732	L	0.42245	1.32	0.47214	D	0.999358	P	0.49185	0.92	P	0.50860	0.652	T	0.27226	-1.0080	10	0.23891	T	0.37	-22.6089	18.6676	0.91497	0.0:1.0:0.0:0.0	.	41	Q8IY51	TIGD4_HUMAN	K	41	ENSP00000355162:E41K	ENSP00000355162:E41K	E	-	1	0	TIGD4	153911486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.822000	0.62686	2.941000	0.99782	0.655000	0.94253	GAG	TIGD4	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq		0.353	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	C	NM_145720		153692036	-1	no_errors	ENST00000304337	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153692036	C	T	153692036	3	4	171	1	0	0	0	0	1	0	0	0	15928	922	32	1	1421	1	TIGD4	4	153692036	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	12	153692036	37462240	50	32371			1	131		3	3	697	C		1.353702e-05
CDKN2AIP	55602	genome.wustl.edu	37	chr4	184368433	184368433	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gttgcatcaagagaagcattGaagttatttctcaagaaaaa	8	5	2	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:184368433G>A	ENST00000504169.1	+	3	1803	c.1596G>A	c.(1594-1596)ttG>ttA	p.L532L	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	532	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAGAAGCATTGAAGTTATTTC	0.373																																																	0													81	87	85					4																	184368433		2203	4300	6503	SO:0001819	synonymous_variant	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1596G>A	4.37:g.184368433G>A			Q8TBM5|Q9NYH0	Silent	SNP	pfam_DUF3469,pfscan_Ds-RNA-bd	p.L532	ENST00000504169.1	37	c.1596	CCDS34110.1	4																																																																																			CDKN2AIP	-	pfscan_Ds-RNA-bd		0.373	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	G	NM_017632		184368433	1	no_errors	ENST00000504169	ensembl	human	known	70_37	silent	SNP	0.994	A	A	184368433	G	A	184368433	2	1	171	1	0	0	0	0	0	0	0	1	3167	1281	45	1		1	CDKN2AIP	4	184368433	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	30676397	184368433	6785843	51	32372										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5182233	5182233	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cctctcatggaaactcggcaGagctgcccaaggcagctcgc	11	15	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:5182233G>A	ENST00000274181.7	+	4	716	c.578G>A	c.(577-579)aGa>aAa	p.R193K	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R193K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	193					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAACTCGGCAGAGCTGCCCAA	0.522																																																	0													56	59	58					5																	5182233		1876	4108	5984	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.578G>A	5.37:g.5182233G>A	ENSP00000274181:p.Arg193Lys		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R193K	ENST00000274181.7	37	c.578	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888250	0.17540	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.05447	3.44;3.44	5.37	0.589	0.17452	Peptidase M12B, propeptide (1);	0.721122	0.13531	N	0.380953	T	0.03959	0.0111	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14805	0.011;0.001;0.004	B;B;B	0.19946	0.026;0.016;0.027	T	0.47129	-0.9141	10	0.07175	T	0.84	.	3.1631	0.06527	0.446:0.0:0.3674:0.1866	.	193;193;193	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	K	193	ENSP00000274181:R193K;ENSP00000421631:R193K	ENSP00000274181:R193K	R	+	2	0	ADAMTS16	5235233	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.143000	0.10296	0.169000	0.19679	0.650000	0.86243	AGA	ADAMTS16	-	pfam_Peptidase_M12B_N		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5182233	1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.000	A	A	5182233	G	A	5182233	3	1	171	1	0	0	0	0	1	0	0	0	261	942	33	1	592	1	ADAMTS16	5	5182233	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		5182233	175733027	52	32373										
DNAJC21	134218	genome.wustl.edu	37	chr5	34929994	34929994	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aggagctcaagaaggcctatCggaagctggccctgaaatgg	14	9	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:34929994C>G	ENST00000342382.4	+	1	297	c.70C>G	c.(70-72)Cgg>Ggg	p.R24G	DNAJC21_ENST00000382021.2_Missense_Mutation_p.R24G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.R24G			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	24	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAAGGCCTATCGGAAGCTGGC	0.721																																																	0													30	34	33					5																	34929994		2203	4300	6503	SO:0001583	missense	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.70C>G	5.37:g.34929994C>G	ENSP00000343728:p.Arg24Gly		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R24G	ENST00000342382.4	37	c.70	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100706	0.76983	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.42131	0.98;0.98;0.98	4.01	3.1	0.35709	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.64402	U	0.000002	T	0.71247	0.3317	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76924	-0.2779	10	0.87932	D	0	-6.5507	11.4178	0.49962	0.3267:0.6733:0.0:0.0	.	24;24	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	G	24	ENSP00000343728:R24G;ENSP00000371451:R24G;ENSP00000306289:R24G	ENSP00000306289:R24G	R	+	1	2	DNAJC21	34965751	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.855000	0.39378	0.602000	0.29896	0.491000	0.48974	CGG	DNAJC21	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.721	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	C	NM_194283		34929994	1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34929994	C	G	34929994	3	3	171	1	0	0	0	0	1	0	0	0	4650	875	31	1	72	1	DNAJC21	5	34929994	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	29747761	34929994	145985266	53	32374										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41007551	41007551	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aacattttaaagtagcagttGaaagcctaaaggagacagtc	9	6	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:41007551G>C	ENST00000399564.4	-	34	4064	c.3614C>G	c.(3613-3615)tCa>tGa	p.S1205*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.S760*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1205																	AGTAGCAGTTGAAAGCCTAAA	0.443																																																	0													60	54	56					5																	41007551		1858	4102	5960	SO:0001587	stop_gained	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3614C>G	5.37:g.41007551G>C	ENSP00000382476:p.Ser1205*		Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S1205*	ENST00000399564.4	37	c.3614	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.870440	0.98534	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	6.08	6.08	0.98989	.	0.000000	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	16.1635	0.81734	0.0:0.0:1.0:0.0	.	.	.	.	X	760;910;1205	.	ENSP00000296803:S910X	S	-	2	0	HEATR7B2	41043308	0.999000	0.42202	0.964000	0.40570	0.364000	0.29643	4.489000	0.60309	2.894000	0.99253	0.655000	0.94253	TCA	HEATR7B2	-	superfamily_ARM-type_fold		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41007551	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	nonsense	SNP	0.980	C	C	41007551	G	C	41007551	4	2	171	1	0	0	0	0	0	1	0	0	7055	1294	45	1	1179	1	HEATR7B2	5	41007551	Nonsense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	6077557	41007551	139907709	54	32375										
HEATR7B2	133558	genome.wustl.edu	37	chr5	41018849	41018849	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	atcccacatcatggtcttcaGaagttttcctagggcgtcca	8	12	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:41018849G>A	ENST00000399564.4	-	26	3067	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L	MROH2B_ENST00000506092.2_Silent_p.L428L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	873																	ATGGTCTTCAGAAGTTTTCCT	0.448																																																	0													122	119	120					5																	41018849		1926	4135	6061	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2617C>T	5.37:g.41018849G>A			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.L873	ENST00000399564.4	37	c.2617	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold		0.448	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41018849	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	silent	SNP	0.109	A	A	41018849	G	A	41018849	2	1	171	1	0	0	0	0	0	0	0	1	7055	933	33	1		1	HEATR7B2	5	41018849	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	11298	41018849	139896411	55	32376										
SPZ1	84654	genome.wustl.edu	37	chr5	79617033	79617033	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gaatgccaaatcttacagcaGagagtagagattctcaagga	10	7	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:79617033G>C	ENST00000296739.4	+	1	1244	c.999G>C	c.(997-999)caG>caC	p.Q333H		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	333					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCTTACAGCAGAGAGTAGAGA	0.423																																																	0													115	109	111					5																	79617033		1891	4125	6016	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.999G>C	5.37:g.79617033G>C	ENSP00000369611:p.Gln333His		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	NULL	p.Q333H	ENST00000296739.4	37	c.999	CCDS43336.1	5	.	.	.	.	.	.	.	.	.	.	G	6.442	0.449667	0.12223	.	.	ENSG00000164299	ENST00000296739	T	0.40756	1.02	4.5	0.416	0.16416	.	0.293405	0.24962	N	0.034208	T	0.36166	0.0957	L	0.56199	1.76	0.21105	N	0.999783	B	0.23891	0.093	B	0.27170	0.077	T	0.35201	-0.9798	10	0.54805	T	0.06	-1.6401	9.6832	0.40082	0.0862:0.5892:0.3246:0.0	.	333	Q9BXG8	SPZ1_HUMAN	H	333	ENSP00000369611:Q333H	ENSP00000369611:Q333H	Q	+	3	2	SPZ1	79652789	0.733000	0.28132	0.669000	0.29828	0.115000	0.19883	-0.188000	0.09642	0.060000	0.16281	0.557000	0.71058	CAG	SPZ1	-	NULL		0.423	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPZ1	HGNC	protein_coding	OTTHUMT00000369322.1	G	NM_032567		79617033	1	no_errors	ENST00000296739	ensembl	human	known	70_37	missense	SNP	0.520	C	C	79617033	G	C	79617033	3	2	171	1	0	0	0	0	1	0	0	0	15157	933	33	1	1001	1	SPZ1	5	79617033	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	38598184	79617033	101298227	56	32377										
GPR98	84059	genome.wustl.edu	37	chr5	89990515	89990515	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gagagattctgacctttgctGaaggtgagcaatggttctaa	12	6	2	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:89990515G>A	ENST00000405460.2	+	33	8038	c.7942G>A	c.(7942-7944)Gaa>Aaa	p.E2648K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2648	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACCTTTGCTGAAGGTGAGCA	0.403																																																	0													64	67	66					5																	89990515		1902	4116	6018	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7942G>A	5.37:g.89990515G>A	ENSP00000384582:p.Glu2648Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E2648K	ENST00000405460.2	37	c.7942	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.174488	0.94807	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.30182	1.54	5.51	5.51	0.81932	Na-Ca exchanger/integrin-beta4 (2);	0.096141	0.85682	D	0.000000	T	0.52629	0.1746	L	0.50333	1.59	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.73380	0.98;0.98	T	0.50742	-0.8792	10	0.72032	D	0.01	.	19.7861	0.96437	0.0:0.0:1.0:0.0	.	2648;2648	E7ETI5;Q8WXG9	.;GPR98_HUMAN	K	2648	ENSP00000384582:E2648K	ENSP00000296619:E2648K	E	+	1	0	GPR98	90026271	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.519000	0.98025	2.744000	0.94065	0.655000	0.94253	GAA	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89990515	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89990515	G	A	89990515	3	1	171	1	0	0	0	0	1	0	0	0	6741	1291	45	1	8072	1	GPR98	5	89990515	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	10373482	89990515	90924745	57	32378										
HSD17B4	3295	genome.wustl.edu	37	chr5	118844836	118844836	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttcttttatttacttttcagTctattcttattctgagaagg	5	6	5	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:118844836T>C	ENST00000256216.6	+	16	1467	c.1334T>C	c.(1333-1335)gTc>gCc	p.V445A	HSD17B4_ENST00000510025.1_Splice_Site_p.V421A|HSD17B4_ENST00000515320.1_Splice_Site_p.V427A|HSD17B4_ENST00000509514.1_Splice_Site_p.V183A|HSD17B4_ENST00000504811.1_Splice_Site_p.V470A|HSD17B4_ENST00000414835.2_Splice_Site_p.V305A|HSD17B4_ENST00000513628.1_Splice_Site_p.V308A|HSD17B4_ENST00000522415.1_3'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	445	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TACTTTTCAGTCTATTCTTAT	0.358																																					Colon(35;490 801 34689 41394 43344)												0													91	94	93					5																	118844836		2202	4300	6502	SO:0001630	splice_region_variant	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1334-1T>C	5.37:g.118844836T>C			B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.V445A	ENST00000256216.6	37	c.1334	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453605	0.63290	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	M	0.85630	2.765	0.80722	D	1	D;P;B;P;P	0.56521	0.976;0.476;0.43;0.681;0.476	P;P;P;P;P	0.55011	0.766;0.653;0.653;0.558;0.653	D	0.91889	0.5522	9	.	.	.	.	15.3256	0.74160	0.0:0.0:0.0:1.0	.	470;427;421;183;445	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	A	445;427;421;470;305;308;183	ENSP00000256216:V445A;ENSP00000424613:V427A;ENSP00000424940:V421A;ENSP00000420914:V470A;ENSP00000411960:V305A;ENSP00000425993:V308A;ENSP00000426272:V183A	.	V	+	2	0	HSD17B4	118872735	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	4.022000	0.57203	2.086000	0.62901	0.459000	0.35465	GTC	HSD17B4	-	NULL		0.358	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	T	NM_000414	Missense_Mutation	118844836	1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118844836	T	C	118844836	5	2	171	1	0	0	0	0	0	0	1	0	7406	1681	58	5	1396	5	HSD17B4	5	118844836	Splice_Site	SNP	T	TCGA-LP-A5U2-01A-11D-A28B-09	28854321	118844836	62070424	58	32379										
UQCRQ	27089	genome.wustl.edu	37	chr5	132203227	132203227	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	catgggggactgaagagttcGagagatccaagaggaagaat	15	5	0	5			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:132203227G>C	ENST00000378670.3	+	3	343	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	UQCRQ_ENST00000378667.1_Missense_Mutation_p.E68Q|GDF9_ENST00000296875.2_5'Flank|UQCRQ_ENST00000378665.1_Missense_Mutation_p.E68Q|UQCRQ_ENST00000496429.1_3'UTR|GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000378673.2_5'Flank	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	68					cellular metabolic process (GO:0044237)|cerebellar Purkinje cell layer development (GO:0021680)|hippocampus development (GO:0021766)|hypothalamus development (GO:0021854)|midbrain development (GO:0030901)|pons development (GO:0021548)|pyramidal neuron development (GO:0021860)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|subthalamus development (GO:0021539)|thalamus development (GO:0021794)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain (GO:0070469)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAAGAGTTCGAGAGATCCAA	0.403																																																	0													80	79	79					5																	132203227		2203	4300	6503	SO:0001583	missense	27089			BC001390	CCDS34237.1	5q31.1	2011-07-04			ENSG00000164405	ENSG00000164405	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	29594	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VII", "complex III subunit 8"	612080				15544925, 12709789, 2164842	Standard	NM_014402		Approved	QP-C, QCR8, UQCR7	uc003kya.1	O14949	OTTHUMG00000059836	ENST00000378670.3:c.202G>C	5.37:g.132203227G>C	ENSP00000367939:p.Glu68Gln		Q5FVE2|Q9BV88|Q9T2V7	Missense_Mutation	SNP	pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8	p.E68Q	ENST00000378670.3	37	c.202	CCDS34237.1	5	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610168	0.46527	.	.	ENSG00000164405	ENST00000378670;ENST00000378667;ENST00000378665	T;T;T	0.79454	-1.27;-1.27;-1.27	5.72	5.72	0.89469	.	0.398733	0.26979	N	0.021532	T	0.72787	0.3504	.	.	.	0.39719	D	0.971446	P	0.37061	0.58	B	0.37989	0.262	T	0.73965	-0.3816	9	0.41790	T	0.15	-35.9861	13.8035	0.63216	0.0:0.0:0.8471:0.1529	.	68	O14949	QCR8_HUMAN	Q	68	ENSP00000367939:E68Q;ENSP00000367936:E68Q;ENSP00000367934:E68Q	ENSP00000367934:E68Q	E	+	1	0	UQCRQ	132231126	1.000000	0.71417	0.975000	0.42487	0.176000	0.22953	4.475000	0.60210	2.717000	0.92951	0.655000	0.94253	GAG	UQCRQ	-	pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8		0.403	UQCRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRQ	HGNC	protein_coding	OTTHUMT00000133040.1	G	NM_014402		132203227	1	no_errors	ENST00000378665	ensembl	human	known	70_37	missense	SNP	0.995	C	C	132203227	G	C	132203227	3	2	171	1	0	0	0	0	1	0	0	0	17055	1059	37	1	208	1	UQCRQ	5	132203227	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	13358391	132203227	48712033	59	32380										
HSPA4	3308	genome.wustl.edu	37	chr5	132428464	132428464	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	caccagcagaaaataaggcaGagtctgaagaaatggaggta	12	6	1	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:132428464G>C	ENST00000304858.2	+	13	1922	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	545					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAATAAGGCAGAGTCTGAAGA	0.403																																					Colon(114;1299 1588 6063 12302 48757)												0													120	110	114					5																	132428464		2203	4300	6503	SO:0001583	missense	3308			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1633G>C	5.37:g.132428464G>C	ENSP00000302961:p.Glu545Gln		O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E545Q	ENST00000304858.2	37	c.1633	CCDS4166.1	5	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475299	0.43942	.	.	ENSG00000170606	ENST00000304858	T	0.01015	5.44	5.22	5.22	0.72569	.	0.425349	0.28047	N	0.016814	T	0.01156	0.0038	N	0.22421	0.69	0.54753	D	0.999981	B	0.26708	0.157	B	0.35931	0.214	T	0.72261	-0.4345	10	0.27082	T	0.32	-7.2095	12.4982	0.55940	0.0765:0.0:0.9235:0.0	.	545	P34932	HSP74_HUMAN	Q	545	ENSP00000302961:E545Q	ENSP00000302961:E545Q	E	+	1	0	HSPA4	132456363	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.834000	0.75339	2.597000	0.87782	0.655000	0.94253	GAG	HSPA4	-	pfam_Hsp_70_fam		0.403	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4	HGNC	protein_coding	OTTHUMT00000251011.1	G	NM_002154, NM_198431		132428464	1	no_errors	ENST00000304858	ensembl	human	known	70_37	missense	SNP	1.000	C	C	132428464	G	C	132428464	3	2	171	1	0	0	0	0	1	0	0	0	7432	943	33	1	1683	1	HSPA4	5	132428464	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	225237	132428464	48486796	60	32381										
PCBD2	84105	genome.wustl.edu	37	chr5	134246123	134246123	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttaagtgagagagatgccatCtacaaagaattctccttcca	7	9	2	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:134246123C>G	ENST00000512783.1	+	2	203	c.183C>G	c.(181-183)atC>atG	p.I61M	PCBD2_ENST00000254908.6_Missense_Mutation_p.I61M|PCBD2_ENST00000510013.1_3'UTR			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	61					positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|tetrahydrobiopterin biosynthetic process (GO:0006729)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|phenylalanine 4-monooxygenase activity (GO:0004505)			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGATGCCATCTACAAAGAAT	0.413																																																	0													137	135	135					5																	134246123		1884	4100	5984	SO:0001583	missense	84105			AF499009	CCDS43364.1	5q31.1	2008-02-05	2006-01-10			ENSG00000132570			24474	protein-coding gene	gene with protein product		609836	"6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2"			15182178, 11980910	Standard	NM_032151		Approved	DCOHM, DCOH2	uc010jdz.3	Q9H0N5		ENST00000512783.1:c.183C>G	5.37:g.134246123C>G	ENSP00000421544:p.Ile61Met		Q8TD40	Missense_Mutation	SNP	pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase	p.I61M	ENST00000512783.1	37	c.183	CCDS43364.1	5	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462175	0.43736	.	.	ENSG00000132570	ENST00000254908;ENST00000512783	D;D	0.92752	-3.1;-3.1	5.64	3.6	0.41247	.	0.114021	0.56097	D	0.000027	D	0.96002	0.8698	M	0.91561	3.22	0.48511	D	0.99966	D	0.61080	0.989	D	0.70227	0.968	D	0.95742	0.8784	10	0.72032	D	0.01	-8.5371	9.0371	0.36293	0.2072:0.7137:0.0:0.0791	.	61	Q9H0N5	PHS2_HUMAN	M	61	ENSP00000254908:I61M;ENSP00000421544:I61M	ENSP00000254908:I61M	I	+	3	3	PCBD2	134274022	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	0.754000	0.26390	1.522000	0.49001	0.563000	0.77884	ATC	PCBD2	-	pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase		0.413	PCBD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCBD2	HGNC	protein_coding	OTTHUMT00000371578.1	C	NM_032151		134246123	1	no_errors	ENST00000254908	ensembl	human	known	70_37	missense	SNP	1.000	G	G	134246123	C	G	134246123	3	3	171	1	0	0	0	0	1	0	0	0	11523	903	32	1	189	1	PCBD2	5	134246123	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	1817659	134246123	46669137	61	32382										
PCDHB2	56133	genome.wustl.edu	37	chr5	140476730	140476730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agggtgcagagagggttagcGaggcaaatcccagtttcagg	16	7	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:140476730G>A	ENST00000194155.4	+	1	2504	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	786					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGGTTAGCGAGGCAAATCC	0.453																																																	0													117	123	121					5																	140476730		2203	4300	6503	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2356G>A	5.37:g.140476730G>A	ENSP00000194155:p.Glu786Lys		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E786K	ENST00000194155.4	37	c.2356	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481511	0.26598	.	.	ENSG00000112852	ENST00000194155	T	0.12569	2.67	4.21	3.32	0.38043	.	.	.	.	.	T	0.11836	0.0288	L	0.45051	1.395	0.09310	N	1	B	0.20887	0.049	B	0.12837	0.008	T	0.10291	-1.0636	9	0.37606	T	0.19	.	7.8683	0.29549	0.0974:0.1667:0.7359:0.0	.	786	Q9Y5E7	PCDB2_HUMAN	K	786	ENSP00000194155:E786K	ENSP00000194155:E786K	E	+	1	0	PCDHB2	140456914	0.031000	0.19500	0.595000	0.28798	0.604000	0.37047	1.983000	0.40648	2.058000	0.61347	0.650000	0.86243	GAG	PCDHB2	-	NULL		0.453	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	G	NM_018936		140476730	1	no_errors	ENST00000194155	ensembl	human	known	70_37	missense	SNP	0.011	A	A	140476730	G	A	140476730	3	1	171	1	0	0	0	0	1	0	0	0	11566	1059	37	1	2358	1	PCDHB2	5	140476730	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	6230607	140476730	40438530	62	32383										
PCDHB7	56129	genome.wustl.edu	37	chr5	140553826	140553826	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aacagccccgccctgcccatCggcagtgtcagcgccacaga	10	18	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:140553826C>T	ENST00000231137.3	+	1	1584	c.1410C>T	c.(1408-1410)atC>atT	p.I470I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCCCATCGGCAGTGTCA	0.642																																																	0													109	109	109					5																	140553826		2203	4300	6503	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1410C>T	5.37:g.140553826C>T			A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I470	ENST00000231137.3	37	c.1410	CCDS4249.1	5																																																																																			PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.642	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	C	NM_018940		140553826	1	no_errors	ENST00000231137	ensembl	human	known	70_37	silent	SNP	0.044	T	T	140553826	C	T	140553826	2	4	171	1	0	0	0	0	0	0	0	1	11571	874	31	1		1	PCDHB7	5	140553826	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	77096	140553826	40361434	63	32384										
PCDHGB6	56100	genome.wustl.edu	37	chr5	140788784	140788784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aagtaatcatagaaatccttGatgaaaacgacaacagccca	6	9	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:140788784G>C	ENST00000520790.1	+	1	1015	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	339	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAATCCTTGATGAAAACGA	0.423																																																	0													100	100	100					5																	140788784		1887	4115	6002	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1015G>C	5.37:g.140788784G>C	ENSP00000428603:p.Asp339His		Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D339H	ENST00000520790.1	37	c.1015	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	-	19.34	3.808966	0.70797	.	.	ENSG00000253305	ENST00000520790	T	0.67698	-0.28	5.46	5.46	0.80206	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90521	0.7030	H	0.99516	4.605	0.42950	D	0.994377	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94748	0.7925	9	0.87932	D	0	.	18.9191	0.92518	0.0:0.0:1.0:0.0	.	339;339	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	339	ENSP00000428603:D339H	ENSP00000428603:D339H	D	+	1	0	PCDHGB6	140768968	1.000000	0.71417	0.931000	0.37212	0.849000	0.48306	9.857000	0.99534	2.561000	0.86390	0.557000	0.71058	GAT	PCDHGB6	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.423	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	G	NM_018926		140788784	1	no_errors	ENST00000520790	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140788784	G	C	140788784	3	2	171	1	0	0	0	0	1	0	0	0	11591	1290	45	1	1017	1	PCDHGB6	5	140788784	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	234958	140788784	40126476	64	32385										
KIF4B	285643	genome.wustl.edu	37	chr5	154397090	154397090	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tagcaacaccagcttcttctCtggctgctcccctatcgaag	7	15	2	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:154397090C>G	ENST00000435029.4	+	1	3831	c.3671C>G	c.(3670-3672)tCt>tGt	p.S1224C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1224	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCTTCTTCTCTGGCTGCTCC	0.512																																																	0													36	37	37					5																	154397090		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3671C>G	5.37:g.154397090C>G	ENSP00000387875:p.Ser1224Cys			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1224C	ENST00000435029.4	37	c.3671	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064687	0.55432	.	.	ENSG00000226650	ENST00000435029	T	0.52526	0.66	1.77	1.77	0.24775	.	.	.	.	.	T	0.60418	0.2267	L	0.59436	1.845	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.62905	-0.6755	9	0.87932	D	0	.	9.5105	0.39074	0.0:1.0:0.0:0.0	.	1224	Q2VIQ3	KIF4B_HUMAN	C	1224	ENSP00000387875:S1224C	ENSP00000387875:S1224C	S	+	2	0	KIF4B	154377283	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.623000	0.54224	1.290000	0.44636	0.563000	0.77884	TCT	KIF4B	-	NULL		0.512	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	C			154397090	1	no_errors	ENST00000435029	ensembl	human	known	70_37	missense	SNP	1.000	G	G	154397090	C	G	154397090	3	3	171	1	0	0	0	0	1	0	0	0	8324	913	32	1	3673	1	KIF4B	5	154397090	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	13608306	154397090	26518170	65	32386										
ATP10B	23120	genome.wustl.edu	37	chr5	160047705	160047705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tgacccagactccaggatgtCgccctggtcccacatgctgc	10	16	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:160047705C>T	ENST00000327245.5	-	15	2911	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	689					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCAGGATGTCGCCCTGGTCC	0.607																																																	0													48	51	50					5																	160047705		2173	4275	6448	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2065G>A	5.37:g.160047705C>T	ENSP00000313600:p.Asp689Asn		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D689N	ENST00000327245.5	37	c.2065	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186952	0.38609	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.85773	-2.03;-2.03	5.36	4.49	0.54785	HAD-like domain (1);	0.817091	0.11227	N	0.586036	T	0.79335	0.4428	L	0.43152	1.355	0.36663	D	0.878048	P;P	0.46142	0.753;0.873	B;B	0.38296	0.183;0.27	T	0.79550	-0.1757	9	.	.	.	.	12.0559	0.53536	0.0:0.8603:0.0:0.1397	.	297;689	Q2YDW8;O94823	.;AT10B_HUMAN	N	689;297	ENSP00000313600:D689N;ENSP00000431081:D297N	.	D	-	1	0	ATP10B	159980283	0.184000	0.23200	0.879000	0.34478	0.460000	0.32559	0.291000	0.18994	2.523000	0.85059	0.655000	0.94253	GAC	ATP10B	-	superfamily_HAD-like_dom		0.607	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160047705	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.966	T	T	160047705	C	T	160047705	3	4	171	1	0	0	0	0	1	0	0	0	1118	884	31	1	2368	1	ATP10B	5	160047705	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	5650615	160047705	20867555	66	32387										
ZNF354C	30832	genome.wustl.edu	37	chr5	178506971	178506971	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttacagatcaaacctttgtaGacacaaaaaagttcacacga	5	9	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:178506971G>A	ENST00000315475.6	+	5	1844	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACCTTTGTAGACACAAAAAA	0.378																																																	0													96	100	98					5																	178506971		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1538G>A	5.37:g.178506971G>A	ENSP00000324064:p.Arg513Lys		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R513K	ENST00000315475.6	37	c.1538	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638634	0.47153	.	.	ENSG00000177932	ENST00000315475	T	0.60920	0.15	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42404	0.1201	N	0.25094	0.71	0.27441	N	0.953712	P	0.47762	0.9	P	0.46237	0.508	T	0.20940	-1.0260	9	0.05721	T	0.95	-22.1696	9.6742	0.40030	0.0:0.0:0.7925:0.2074	.	513	Q86Y25	Z354C_HUMAN	K	513	ENSP00000324064:R513K	ENSP00000324064:R513K	R	+	2	0	ZNF354C	178439577	0.001000	0.12720	1.000000	0.80357	0.978000	0.69477	0.456000	0.21859	2.330000	0.79161	0.591000	0.81541	AGA	ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178506971	1	no_errors	ENST00000315475	ensembl	human	known	70_37	missense	SNP	0.976	A	A	178506971	G	A	178506971	3	1	171	1	0	0	0	0	1	0	0	0	17896	942	33	1	1552	1	ZNF354C	5	178506971	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	18459266	178506971	2408289	67	32388										
RNF130	55819	genome.wustl.edu	37	chr5	179440305	179440305	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcatgacagcaataatatctCcagtgcctgcaatataaaat	5	9	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:179440305C>G	ENST00000261947.4	-	3	847	c.449G>C	c.(448-450)gGa>gCa	p.G150A	RNF130_ENST00000521389.1_Missense_Mutation_p.G150A|RNF130_ENST00000522208.2_Missense_Mutation_p.G150A|MIR340_ENST00000362125.1_RNA	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATAATATCTCCAGTGCCTGC	0.318																																					GBM(24;432 554 38471 39699 51728)												0													41	39	40					5																	179440305		2203	4300	6503	SO:0001583	missense	55819			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.449G>C	5.37:g.179440305C>G	ENSP00000261947:p.Gly150Ala			Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G150A	ENST00000261947.4	37	c.449		5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585748	0.86748	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.61274	0.12;0.12;0.12	5.79	5.79	0.91817	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	L	0.52266	1.64	0.80722	D	1	P;P	0.49696	0.927;0.771	P;P	0.58620	0.842;0.574	T	0.67321	-0.5700	10	0.46703	T	0.11	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	167;150	Q59EL1;Q86XS8	.;GOLI_HUMAN	A	150	ENSP00000429509:G150A;ENSP00000430237:G150A;ENSP00000261947:G150A	ENSP00000261947:G150A	G	-	2	0	RNF130	179372911	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.723000	0.93209	0.655000	0.94253	GGA	RNF130	-	pfam_Protease-assoc_domain		0.318	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	RNF130	HGNC	protein_coding	OTTHUMT00000374205.1	C	NM_018434		179440305	-1	no_errors	ENST00000521389	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179440305	C	G	179440305	3	3	171	1	0	0	0	0	1	0	0	0	13468	855	30	1	838	1	RNF130	5	179440305	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	933334	179440305	1474955	68	32389										
MAPK9	5601	genome.wustl.edu	37	chr5	179676112	179676112	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttcagggtgcagtctgatttCacaacaatgttgctaggctt	10	8	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:179676112C>T	ENST00000452135.2	-	6	775	c.477G>A	c.(475-477)gtG>gtA	p.V159V	MAPK9_ENST00000347470.4_Silent_p.V159V|MAPK9_ENST00000343111.6_Silent_p.V159V|MAPK9_ENST00000455781.1_Silent_p.V159V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Silent_p.V159V|MAPK9_ENST00000425491.2_Silent_p.V159V|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_Silent_p.V159V			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCTGATTTCACAACAATGT	0.458																																																	0													92	91	91					5																	179676112		2203	4300	6503	SO:0001819	synonymous_variant	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.477G>A	5.37:g.179676112C>T			A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.V159	ENST00000452135.2	37	c.477	CCDS4453.1	5																																																																																			MAPK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.458	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3	C			179676112	-1	no_errors	ENST00000452135	ensembl	human	known	70_37	silent	SNP	0.915	T	T	179676112	C	T	179676112	2	4	171	1	0	0	0	0	0	0	0	1	9310	813	29	1		1	MAPK9	5	179676112	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	235807	179676112	1239148	69	32390										
NUP153	9972	genome.wustl.edu	37	chr6	17626044	17626044	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cttttgtaaatgtacctgcaGagctagatgtggttgtggct	12	6	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:17626044G>C	ENST00000262077.2	-	19	3895	c.3896C>G	c.(3895-3897)tCt>tGt	p.S1299C	NUP153_ENST00000537253.1_Missense_Mutation_p.S1330C	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1299					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGTACCTGCAGAGCTAGATGT	0.413																																																	0													77	74	75					6																	17626044		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3896C>G	6.37:g.17626044G>C	ENSP00000262077:p.Ser1299Cys		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.S1330C	ENST00000262077.2	37	c.3989	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918630	0.73098	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.08896	3.04;3.04	5.76	5.76	0.90799	.	0.128272	0.35970	N	0.002871	T	0.11537	0.0281	L	0.51422	1.61	0.80722	D	1	D;D;D	0.60160	0.983;0.972;0.987	P;P;P	0.56751	0.805;0.621;0.694	T	0.00456	-1.1728	10	0.59425	D	0.04	-12.5093	13.1961	0.59738	0.0726:0.0:0.9273:0.0	.	1330;1279;1299	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	C	1299;1279;1330	ENSP00000262077:S1299C;ENSP00000444029:S1330C	ENSP00000262077:S1299C	S	-	2	0	NUP153	17734023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.844000	0.62846	2.726000	0.93360	0.655000	0.94253	TCT	NUP153	-	NULL		0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	G			17626044	-1	no_errors	ENST00000537253	ensembl	human	known	70_37	missense	SNP	0.983	C	C	17626044	G	C	17626044	3	2	171	1	0	0	0	0	1	0	0	0	10779	942	33	1	547	1	NUP153	6	17626044	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		17626044	153489023	70	32391										
ZNF184	7738	genome.wustl.edu	37	chr6	27419274	27419274	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tctccagtatgagtattctgAtgttcagtcagatgagtgct	10	7	4	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:27419274A>G	ENST00000211936.6	-	6	2348	c.2064T>C	c.(2062-2064)caT>caC	p.H688H	ZNF184_ENST00000377419.1_Silent_p.H688H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GAGTATTCTGATGTTCAGTCA	0.423																																																	0													122	127	125					6																	27419274		2203	4300	6503	SO:0001819	synonymous_variant	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.2064T>C	6.37:g.27419274A>G			B2R715|O60792|Q8TBA9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H688	ENST00000211936.6	37	c.2064	CCDS4624.1	6																																																																																			ZNF184	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	A	NM_007149		27419274	-1	no_errors	ENST00000211936	ensembl	human	known	70_37	silent	SNP	0.856	G	G	27419274	A	G	27419274	2	3	171	1	0	0	0	0	0	0	0	1	17781	330	12	5		5	ZNF184	6	27419274	Silent	SNP	A	TCGA-LP-A5U2-01A-11D-A28B-09	9793230	27419274	143695793	71	32392										
RGL2	5863	genome.wustl.edu	37	chr6	33261017	33261017	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gaggtggctggggtcagctgGactgtgcagggatggactgc	20	7	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:33261017G>C	ENST00000497454.1	-	16	2278	c.1783C>G	c.(1783-1785)Cca>Gca	p.P595A	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	595					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGGTCAGCTGGACTGTGCAGG	0.617																																																	0													92	89	90					6																	33261017		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1783C>G	6.37:g.33261017G>C	ENSP00000420211:p.Pro595Ala		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.P595A	ENST00000497454.1	37	c.1783	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	5.107	0.205430	0.09704	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.10382	2.88	4.5	2.72	0.32119	.	0.424167	0.21465	N	0.074086	T	0.03827	0.0108	L	0.56769	1.78	0.24589	N	0.993836	B	0.02656	0.0	B	0.04013	0.001	T	0.34551	-0.9824	10	0.56958	D	0.05	.	6.2887	0.21047	0.1005:0.1856:0.7139:0.0	.	595	O15211	RGL2_HUMAN	A	595;459	ENSP00000420211:P595A	ENSP00000400083:P459A	P	-	1	0	RGL2	33368995	0.992000	0.36948	0.100000	0.21137	0.881000	0.50899	1.202000	0.32271	0.529000	0.28599	-0.931000	0.02705	CCA	RGL2	-	NULL		0.617	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	G			33261017	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	0.035	C	C	33261017	G	C	33261017	3	2	171	1	0	0	0	0	1	0	0	0	13307	1174	41	1	562	1	RGL2	6	33261017	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	5841743	33261017	137854050	72	32393										
DEF6	50619	genome.wustl.edu	37	chr6	35280419	35280419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcagggctacctgtggaagcGagggcacctgagaaggaact	16	9	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:35280419G>A	ENST00000316637.5	+	5	682	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	226	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CTGTGGAAGCGAGGGCACCTG	0.607																																																	0													37	38	38					6																	35280419		2203	4300	6503	SO:0001583	missense	50619			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.677G>A	6.37:g.35280419G>A	ENSP00000319831:p.Arg226Gln		Q86VF4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R226Q	ENST00000316637.5	37	c.677	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018067	0.93404	.	.	ENSG00000023892	ENST00000316637	T	0.13196	2.61	5.44	5.44	0.79542	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.052119	0.64402	D	0.000001	T	0.03827	0.0108	N	0.21194	0.64	0.80722	D	1	D;D	0.53151	0.958;0.958	B;B	0.38655	0.278;0.278	T	0.21759	-1.0236	10	0.72032	D	0.01	-10.1492	7.0834	0.25244	0.2079:0.0:0.7921:0.0	.	226;226	B2RBP7;Q9H4E7	.;DEFI6_HUMAN	Q	226	ENSP00000319831:R226Q	ENSP00000319831:R226Q	R	+	2	0	DEF6	35388397	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.248000	0.72418	2.547000	0.85894	0.655000	0.94253	CGA	DEF6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.607	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	G	NM_022047		35280419	1	no_errors	ENST00000316637	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35280419	G	A	35280419	3	1	171	1	0	0	0	0	1	0	0	0	4391	1058	37	1	695	1	DEF6	6	35280419	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	2019402	35280419	135834648	73	32394										
CUL7	9820	genome.wustl.edu	37	chr6	43005484	43005484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aggcatagggcacaccccggGagcgaatctgtagggtatgg	16	9	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:43005484G>A	ENST00000265348.3	-	26	5124	c.5039C>T	c.(5038-5040)tCc>tTc	p.S1680F	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.S1764F			Q14999	CUL7_HUMAN	cullin 7	1680					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACACCCCGGGAGCGAATCTG	0.602																																																	0													32	30	31					6																	43005484		2200	4294	6494	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.5039C>T	6.37:g.43005484G>A	ENSP00000265348:p.Ser1680Phe		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S1764F	ENST00000265348.3	37	c.5291	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653361	0.67472	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.80994	-1.43;-1.44	5.34	5.34	0.76211	.	0.370657	0.25671	N	0.029077	T	0.78502	0.4293	L	0.44542	1.39	0.32347	N	0.558942	D;D;D;D	0.71674	0.991;0.995;0.994;0.998	D;P;P;D	0.66084	0.919;0.88;0.88;0.941	T	0.80211	-0.1476	10	0.87932	D	0	-19.3548	8.1189	0.30959	0.0841:0.1605:0.7554:0.0	.	1764;1680;1764;1680	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	F	1680;1764	ENSP00000265348:S1680F;ENSP00000438788:S1764F	ENSP00000265348:S1680F	S	-	2	0	CUL7	43113462	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.342000	0.59341	2.665000	0.90641	0.655000	0.94253	TCC	CUL7	-	NULL		0.602	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43005484	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	missense	SNP	0.834	A	A	43005484	G	A	43005484	3	1	171	1	0	0	0	0	1	0	0	0	4065	1174	41	1	61	1	CUL7	6	43005484	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	7725065	43005484	128109583	74	32395										
CUL7	9820	genome.wustl.edu	37	chr6	43005529	43005529	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tgaggggtgggttggggcctGaggagcctgggttcagggac	22	6	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:43005529G>C	ENST00000265348.3	-	26	5079	c.4994C>G	c.(4993-4995)tCa>tGa	p.S1665*	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Nonsense_Mutation_p.S1749*			Q14999	CUL7_HUMAN	cullin 7	1665					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTTGGGGCCTGAGGAGCCTGG	0.632																																																	0													48	43	45					6																	43005529		2203	4300	6503	SO:0001587	stop_gained	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4994C>G	6.37:g.43005529G>C	ENSP00000265348:p.Ser1665*		B4DYZ0|F5H0L1|Q5T654	Nonsense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S1749*	ENST00000265348.3	37	c.5246	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	41	8.946213	0.99012	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.34	0.433	0.16534	.	1.739800	0.03068	N	0.156727	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-20.2612	9.6366	0.39811	0.3684:0.0:0.6316:0.0	.	.	.	.	X	1665;1749	.	ENSP00000265348:S1665X	S	-	2	0	CUL7	43113507	0.044000	0.20184	0.074000	0.20217	0.805000	0.45488	0.565000	0.23578	0.073000	0.16731	-0.150000	0.13652	TCA	CUL7	-	NULL		0.632	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43005529	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	nonsense	SNP	0.222	C	C	43005529	G	C	43005529	4	2	171	1	0	0	0	0	0	1	0	0	4065	1294	45	1	106	1	CUL7	6	43005529	Nonsense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	45	43005529	128109538	75	32396										
CTAGE9	643854	genome.wustl.edu	37	chr6	132030684	132030684	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttcaaatttcaactctctttCagttaatttttgtttgttgt	4	6	4	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:132030684C>T	ENST00000314099.8	-	1	1522	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	492						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						AACTCTCTTTCAGTTAATTTT	0.388																																																	0													92	75	80					6																	132030684		692	1591	2283	SO:0001583	missense	643854				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1474G>A	6.37:g.132030684C>T	ENSP00000395587:p.Glu492Lys			Missense_Mutation	SNP	NULL	p.E492K	ENST00000314099.8	37	c.1474	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	6.307	0.424800	0.11987	.	.	ENSG00000236761	ENST00000314099	T	0.61742	0.08	.	.	.	.	.	.	.	.	T	0.34803	0.0910	M	0.64080	1.96	0.09310	N	1	B	0.25351	0.124	B	0.32624	0.149	T	0.48658	-0.9016	6	0.72032	D	0.01	.	.	.	.	.	492	A4FU28	CTGE9_HUMAN	K	492	ENSP00000395587:E492K	ENSP00000395587:E492K	E	-	1	0	CTAGE9	132072377	1.000000	0.71417	.	.	.	.	1.336000	0.33850	.	.	.	.	GAA	CTAGE9	-	NULL		0.388	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	C	NM_001145659		132030684	-1	no_errors	ENST00000314099	ensembl	human	known	70_37	missense	SNP	0.000	T	T	132030684	C	T	132030684	3	4	171	1	0	0	0	0	1	0	0	0	4001	835	29	1	863	1	CTAGE9	6	132030684	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	89025155	132030684	39084383	76	32397										
STX7	8417	genome.wustl.edu	37	chr6	132781956	132781956	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aactccaatgacaaggataaGaatgatgatgcacagggttt	10	6	0	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:132781956G>C	ENST00000367941.2	-	10	840	c.727C>G	c.(727-729)Ctt>Gtt	p.L243V		NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	243					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ACAAGGATAAGAATGATGATG	0.383																																																	0													147	133	138					6																	132781956		2203	4300	6503	SO:0001583	missense	8417			U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.727C>G	6.37:g.132781956G>C	ENSP00000356918:p.Leu243Val		E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L243V	ENST00000367941.2	37	c.727	CCDS5153.1	6	.	.	.	.	.	.	.	.	.	.	G	0.736	-0.778205	0.02929	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255	T;T	0.39229	1.09;1.09	5.84	0.756	0.18421	.	1.269810	0.04650	N	0.406991	T	0.08492	0.0211	L	0.31804	0.96	0.28727	N	0.902723	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09250	-1.0683	10	0.10636	T	0.68	1.6566	1.6202	0.02712	0.4229:0.2373:0.2303:0.1094	.	68;243	B4DWC2;O15400	.;STX7_HUMAN	V	243;243;198	ENSP00000356918:L243V;ENSP00000412202:L243V	ENSP00000309600:L198V	L	-	1	0	STX7	132823649	0.005000	0.15991	0.149000	0.22428	0.084000	0.17831	-0.044000	0.12023	-0.088000	0.12506	-1.284000	0.01376	CTT	STX7	-	NULL		0.383	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STX7	HGNC	protein_coding	OTTHUMT00000042252.2	G			132781956	-1	no_errors	ENST00000367941	ensembl	human	known	70_37	missense	SNP	0.136	C	C	132781956	G	C	132781956	3	2	171	1	0	0	0	0	1	0	0	0	15380	942	33	1	62	1	STX7	6	132781956	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	751272	132781956	38333111	77	32398										
IFNGR1	3459	genome.wustl.edu	37	chr6	137525576	137525576	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	atttacaaaaactgaagggtGaaatatgtcaatcatgattt	7	4	2	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:137525576G>A	ENST00000367739.4	-	4	560	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	IFNGR1_ENST00000367735.2_Missense_Mutation_p.H137Y|IFNGR1_ENST00000478333.1_5'Flank|IFNGR1_ENST00000543628.1_Missense_Mutation_p.H119Y	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	147					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACTGAAGGGTGAAATATGTCA	0.403																																																	0													181	155	164					6																	137525576		2203	4300	6503	SO:0001583	missense	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.439C>T	6.37:g.137525576G>A	ENSP00000356713:p.His147Tyr		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.H147Y	ENST00000367739.4	37	c.439	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375772	0.42105	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.51	2.65	0.31530	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.388255	0.21659	N	0.071056	T	0.33933	0.0880	L	0.39147	1.195	0.20307	N	0.999914	D;D;D	0.69078	0.995;0.997;0.996	P;P;P	0.61533	0.756;0.89;0.78	T	0.08066	-1.0740	10	0.36615	T	0.2	-6.4488	6.9606	0.24595	0.0906:0.3432:0.5661:0.0	.	137;119;147	B4DFT7;F5H5M7;P15260	.;.;INGR1_HUMAN	Y	147;147;119;113;137;137	ENSP00000356713:H147Y;ENSP00000443282:H119Y;ENSP00000389249:H113Y;ENSP00000356709:H137Y;ENSP00000394230:H137Y	ENSP00000356709:H137Y	H	-	1	0	IFNGR1	137567269	0.925000	0.31364	0.162000	0.22713	0.005000	0.04900	0.510000	0.22723	0.633000	0.30452	-0.176000	0.13171	CAC	IFNGR1	-	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3		0.403	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	G			137525576	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	missense	SNP	0.256	A	A	137525576	G	A	137525576	3	1	171	1	0	0	0	0	1	0	0	0	7569	1290	45	1	1046	1	IFNGR1	6	137525576	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	4743620	137525576	33589491	78	32399										
MTHFD1L	25902	genome.wustl.edu	37	chr6	151413669	151413669	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tagatcttgataccgaaacaGaacaagttaaaggcttgttc	8	7	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:151413669G>C	ENST00000367321.3	+	27	3188	c.2914G>C	c.(2914-2916)Gaa>Caa	p.E972Q	RP1-292B18.4_ENST00000415477.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	972	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TACCGAAACAGAACAAGTTAA	0.468																																																	0													79	75	76					6																	151413669		2203	4300	6503	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2914G>C	6.37:g.151413669G>C	ENSP00000356290:p.Glu972Gln		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.E972Q	ENST00000367321.3	37	c.2914	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147884	0.78001	.	.	ENSG00000120254	ENST00000367321	T	0.23147	1.92	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	M	0.86953	2.85	0.80722	D	1	D;B;D	0.89917	0.999;0.18;1.0	D;B;D	0.87578	0.977;0.285;0.998	T	0.59606	-0.7423	10	0.72032	D	0.01	.	18.4037	0.90526	0.0:0.0:1.0:0.0	.	973;727;972	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Q	972	ENSP00000356290:E972Q	ENSP00000356290:E972Q	E	+	1	0	MTHFD1L	151455362	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	8.060000	0.89464	2.652000	0.90054	0.655000	0.94253	GAA	MTHFD1L	-	pfam_Formate_THF_ligase		0.468	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	G	NM_015440		151413669	1	no_errors	ENST00000367321	ensembl	human	known	70_37	missense	SNP	1.000	C	C	151413669	G	C	151413669	3	2	171	1	0	0	0	0	1	0	0	0	9951	943	33	1	3020	1	MTHFD1L	6	151413669	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	13888093	151413669	19701398	79	32400										
CNKSR3	154043	genome.wustl.edu	37	chr6	154732090	154732090	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	taagatggtgttttctctctCatttttgtgggcagaatgtt	10	5	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:154732090C>T	ENST00000607772.1	-	11	1801	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	CNKSR3_ENST00000433165.2_Missense_Mutation_p.M244I|CNKSR3_ENST00000479339.1_Missense_Mutation_p.M339I	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	419	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTTTCTCTCTCATTTTTGTGG	0.493																																																	0													170	161	164					6																	154732090		2203	4300	6503	SO:0001583	missense	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1257G>A	6.37:g.154732090C>T	ENSP00000475915:p.Met419Ile		Q5SGD5|Q96N65	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM	p.M419I	ENST00000607772.1	37	c.1257	CCDS5246.1	6	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719126	0.48622	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	T;T;T	0.44881	1.5;0.91;0.91	5.55	4.66	0.58398	Connector enhancer of kinase suppressor of ras 2 (1);	0.245386	0.41396	D	0.000898	T	0.24890	0.0604	L	0.59436	1.845	0.33292	D	0.563673	B	0.30146	0.27	B	0.31812	0.136	T	0.11916	-1.0568	10	0.28530	T	0.3	.	14.6385	0.68706	0.0:0.7233:0.2767:0.0	.	419	Q6P9H4	CNKR3_HUMAN	I	419;244;339	ENSP00000356182:M419I;ENSP00000414185:M244I;ENSP00000418975:M339I	ENSP00000356182:M419I	M	-	3	0	CNKSR3	154773782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.546000	0.60705	1.298000	0.44778	0.655000	0.94253	ATG	CNKSR3	-	pfam_CNKSR2		0.493	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR3	HGNC	protein_coding	OTTHUMT00000042792.2	C	NM_173515		154732090	-1	no_errors	ENST00000367213	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154732090	C	T	154732090	3	4	171	1	0	0	0	0	1	0	0	0	3613	826	29	1	422	1	CNKSR3	6	154732090	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	3318421	154732090	16382977	80	32401										
CPVL	54504	genome.wustl.edu	37	chr7	29111989	29111989	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttcacctctctcacagggttGagggaatggatgaggtgtgc	14	8	3	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:29111989G>C	ENST00000409850.1	-	12	1306	c.660C>G	c.(658-660)ctC>ctG	p.L220L	CPVL_ENST00000396276.3_Silent_p.L220L|CPVL_ENST00000265394.5_Silent_p.L220L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	220						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCACAGGGTTGAGGGAATGGA	0.433																																																	0													148	126	134					7																	29111989		2203	4300	6503	SO:0001819	synonymous_variant	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.660C>G	7.37:g.29111989G>C			A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.L220	ENST00000409850.1	37	c.660	CCDS5419.1	7																																																																																			CPVL	-	pfam_Peptidase_S10		0.433	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	G	NM_019029		29111989	-1	no_errors	ENST00000265394	ensembl	human	known	70_37	silent	SNP	1.000	C	C	29111989	G	C	29111989	2	2	171	1	0	0	0	0	0	0	0	1	3840	1277	45	1		1	CPVL	7	29111989	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		29111989	130026674	81	32402										
ABCA13	154664	genome.wustl.edu	37	chr7	48312257	48312257	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcaaaacacattttggatatCataaaacaatttaatttcca	2	7	2	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:48312257C>T	ENST00000435803.1	+	17	3018	c.2994C>T	c.(2992-2994)atC>atT	p.I998I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	998					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTGGATATCATAAAACAAT	0.303																																																	0													27	27	27					7																	48312257		1804	4060	5864	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2994C>T	7.37:g.48312257C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I998	ENST00000435803.1	37	c.2994	CCDS47584.1	7																																																																																			ABCA13	-	NULL		0.303	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48312257	1	no_errors	ENST00000435803	ensembl	human	known	70_37	silent	SNP	0.131	T	T	48312257	C	T	48312257	2	4	171	1	0	0	0	0	0	0	0	1	31	816	29	1		1	ABCA13	7	48312257	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	19200268	48312257	110826406	82	32403										
SEPT14	346288	genome.wustl.edu	37	chr7	55874943	55874943	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aacgaagtcacagtgattttCattttccactagtaaaaaaa	5	7	2	1	rs78957351		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:55874943C>T	ENST00000388975.3	-	8	942	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	276	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGATTTTCATTTTCCACT	0.313																																																	0													68	69	69					7																	55874943		2202	4300	6502	SO:0001583	missense	346288			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.826G>A	7.37:g.55874943C>T	ENSP00000373627:p.Glu276Lys		A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.E276K	ENST00000388975.3	37	c.826	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322855	0.81580	.	.	ENSG00000154997	ENST00000388975	T	0.36340	1.26	3.24	3.24	0.37175	.	0.150034	0.43579	D	0.000555	T	0.59514	0.2199	M	0.81239	2.535	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.65001	-0.6274	10	0.56958	D	0.05	.	12.756	0.57335	0.0:1.0:0.0:0.0	.	276	Q6ZU15	SEP14_HUMAN	K	276	ENSP00000373627:E276K	ENSP00000373627:E276K	E	-	1	0	SEPT14	55842437	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.964000	0.70379	2.116000	0.64780	0.557000	0.71058	GAA	SEPT14	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.313	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	C	NM_207366		55874943	-1	no_errors	ENST00000388975	ensembl	human	known	70_37	missense	SNP	1.000	T	T	55874943	C	T	55874943	3	4	171	1	0	0	0	0	1	0	0	0	14093	835	29	1	484	1	SEPT14	7	55874943	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	7562686	55874943	103263720	83	32404										
MBLAC1	255374	genome.wustl.edu	37	chr7	99725334	99725334	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggcagggcgtggccccgggaGacgtgacgctagtggtgggg	22	9	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:99725334G>C	ENST00000398075.2	+	2	715	c.316G>C	c.(316-318)Gac>Cac	p.D106H	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	106							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GGCCCCGGGAGACGTGACGCT	0.736																																																	0													6	7	7					7																	99725334		1852	4017	5869	SO:0001583	missense	255374			BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.316G>C	7.37:g.99725334G>C	ENSP00000381150:p.Asp106His		Q8N5X8	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.D106H	ENST00000398075.2	37	c.316	CCDS43620.1	7	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761425	0.49468	.	.	ENSG00000214309	ENST00000398075;ENST00000421390	D;T	0.82167	-1.58;0.58	4.66	1.57	0.23409	Beta-lactamase-like (2);	0.203527	0.29002	U	0.013455	T	0.76688	0.4022	M	0.62723	1.935	0.09310	N	0.999999	B	0.21225	0.053	B	0.25291	0.059	T	0.69323	-0.5175	10	0.87932	D	0	.	4.2244	0.10574	0.0939:0.1586:0.5845:0.163	.	106	A4D2B0	MBLC1_HUMAN	H	106	ENSP00000381150:D106H;ENSP00000406055:D106H	ENSP00000381150:D106H	D	+	1	0	MBLAC1	99563270	0.985000	0.35326	0.568000	0.28447	0.147000	0.21601	2.319000	0.43788	1.074000	0.40909	0.561000	0.74099	GAC	MBLAC1	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like		0.736	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBLAC1	HGNC	protein_coding	OTTHUMT00000337353.1	G	NM_203397		99725334	1	no_errors	ENST00000398075	ensembl	human	known	70_37	missense	SNP	0.093	C	C	99725334	G	C	99725334	3	2	171	1	0	0	0	0	1	0	0	0	9374	942	33	1	318	1	MBLAC1	7	99725334	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	43850391	99725334	59413329	84	32405										
PILRB	29990	genome.wustl.edu	37	chr7	99956689	99956689	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tccatcaaggggaccaaactCaccatcacccagggtgagtc	9	14	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:99956689C>G	ENST00000452089.1	+	7	1500	c.441C>G	c.(439-441)ctC>ctG	p.L147L	PILRB_ENST00000444073.1_Silent_p.L147L|PILRB_ENST00000610247.1_Silent_p.L147L|PILRB_ENST00000609309.1_Silent_p.L147L|PILRB_ENST00000448382.1_Missense_Mutation_p.H200D|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	147					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGACCAAACTCACCATCACCC	0.572																																																	0													55	55	55					7																	99956689		2203	4300	6503	SO:0001819	synonymous_variant	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.441C>G	7.37:g.99956689C>G			Q69YF9|Q9HBS0	Missense_Mutation	SNP	NULL	p.H200D	ENST00000452089.1	37	c.598	CCDS43622.1	7	.	.	.	.	.	.	.	.	.	.	C	4.898	0.166818	0.09339	.	.	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	2.5	1.54	0.23209	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.09310	N	0.999991	B	0.24768	0.111	B	0.28849	0.095	T	0.27806	-1.0063	6	.	.	.	.	7.4213	0.27073	0.0:0.7271:0.2729:0.0	.	78	Q9UKJ0-2	.	D	78;200	.	.	H	+	1	0	PILRB	99794625	0.234000	0.23783	0.010000	0.14722	0.011000	0.07611	1.387000	0.34430	0.289000	0.22422	0.603000	0.83216	CAC	PILRB	-	NULL		0.572	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2	C	NM_178238		99956689	1	no_errors	ENST00000448382	ensembl	human	known	70_37	missense	SNP	0.091	G	G	99956689	C	G	99956689	2	3	171	1	0	0	0	0	0	0	0	1	11950	826	29	1		1	PILRB	7	99956689	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	231355	99956689	59181974	85	32406										
EPHB4	2050	genome.wustl.edu	37	chr7	100414872	100414872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggcccgtagccggcctcagaGcgcgcccgtacctgcaccag	13	18	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:100414872G>A	ENST00000358173.3	-	8	1998	c.1530C>T	c.(1528-1530)cgC>cgT	p.R510R	EPHB4_ENST00000360620.3_Silent_p.R510R|EPHB4_ENST00000477446.1_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	510	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R510R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGCCTCAGAGCGCGCCCGTA	0.667																																					GBM(200;2113 3072 25865 52728)												1	Substitution - coding silent(1)	stomach(1)											20	21	20					7																	100414872		2203	4298	6501	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1530C>T	7.37:g.100414872G>A			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R510	ENST00000358173.3	37	c.1530	CCDS5706.1	7																																																																																			EPHB4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.667	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	G	NM_004444		100414872	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	silent	SNP	0.994	A	A	100414872	G	A	100414872	2	1	171	1	0	0	0	0	0	0	0	1	5189	958	34	4		4	EPHB4	7	100414872	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	458183	100414872	58723791	86	32407										
MUC17	140453	genome.wustl.edu	37	chr7	100678046	100678046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ccaggctggtggtcagttctGaggctagcaccctttccaca	11	13	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:100678046G>A	ENST00000306151.4	+	3	3413	c.3349G>A	c.(3349-3351)Gag>Aag	p.E1117K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1117	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCAGTTCTGAGGCTAGCAC	0.512																																																	0													462	376	405					7																	100678046		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3349G>A	7.37:g.100678046G>A	ENSP00000302716:p.Glu1117Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1117K	ENST00000306151.4	37	c.3349	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199339	0.06219	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.693	-0.411	0.12370	.	.	.	.	.	T	0.01320	0.0043	L	0.27053	0.805	0.09310	N	1	P	0.47604	0.898	B	0.34824	0.19	T	0.32025	-0.9922	9	0.07175	T	0.84	.	1.6319	0.02734	0.2761:0.0:0.3948:0.3291	.	1117	Q685J3	MUC17_HUMAN	K	1117	ENSP00000302716:E1117K	ENSP00000302716:E1117K	E	+	1	0	MUC17	100464766	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.136000	0.15974	-0.194000	0.10399	0.196000	0.17591	GAG	MUC17	-	NULL		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100678046	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.001	A	A	100678046	G	A	100678046	3	1	171	1	0	0	0	0	1	0	0	0	9997	1291	45	1	3359	1	MUC17	7	100678046	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	263174	100678046	58460617	87	32408										
MUC17	140453	genome.wustl.edu	37	chr7	100679462	100679462	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ccatgctggtggtcagttctGaggctaacaccctttcaaca	9	12	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:100679462G>C	ENST00000306151.4	+	3	4829	c.4765G>C	c.(4765-4767)Gag>Cag	p.E1589Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1589	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCAGTTCTGAGGCTAACAC	0.488																																																	0													243	230	235					7																	100679462		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4765G>C	7.37:g.100679462G>C	ENSP00000302716:p.Glu1589Gln		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1589Q	ENST00000306151.4	37	c.4765	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	2.812	-0.246809	0.05867	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.815	0.815	0.18763	.	.	.	.	.	T	0.01558	0.0050	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.28709	0.093	T	0.46735	-0.9170	9	0.15952	T	0.53	.	5.0745	0.14625	0.0:0.0:1.0:0.0	.	1589	Q685J3	MUC17_HUMAN	Q	1589	ENSP00000302716:E1589Q	ENSP00000302716:E1589Q	E	+	1	0	MUC17	100466182	.	.	0.002000	0.10522	0.038000	0.13279	.	.	0.777000	0.33496	0.089000	0.15464	GAG	MUC17	-	NULL		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100679462	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.004	C	C	100679462	G	C	100679462	3	2	171	1	0	0	0	0	1	0	0	0	9997	1291	45	1	4775	1	MUC17	7	100679462	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	1416	100679462	58459201	88	32409										
UBE2H	7328	genome.wustl.edu	37	chr7	129497387	129497387	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agtttgattaattacatctaGacacacagttcctgacctga	6	9	1	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:129497387G>A	ENST00000355621.3	-	5	655	c.262C>T	c.(262-264)Cta>Tta	p.L88L	UBE2H_ENST00000473814.2_Intron	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	88					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					ATTACATCTAGACACACAGTT	0.343																																																	0													114	112	112					7																	129497387		2203	4300	6503	SO:0001819	synonymous_variant	7328			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12484	protein-coding gene	gene with protein product	"GID complex subunit 3, UBC8 homolog (S. cerevisiae)"	601082	"ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)", "ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.262C>T	7.37:g.129497387G>A			A4D1L6|C9JY93|P37286|Q7Z6F4	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L88	ENST00000355621.3	37	c.262	CCDS5814.1	7																																																																																			UBE2H	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.343	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2H	HGNC	protein_coding	OTTHUMT00000349327.2	G	NM_003344		129497387	-1	no_errors	ENST00000355621	ensembl	human	known	70_37	silent	SNP	1.000	A	A	129497387	G	A	129497387	2	1	171	1	0	0	0	0	0	0	0	1	16889	933	33	1		1	UBE2H	7	129497387	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	28817925	129497387	29641276	89	32410										
MGAM	8972	genome.wustl.edu	37	chr7	141760129	141760129	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aggtctggcctgattttcctGatgttgttgtgaatgggtct	13	6	2	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:141760129G>A	ENST00000549489.2	+	34	4173	c.4078G>A	c.(4078-4080)Gat>Aat	p.D1360N	MGAM_ENST00000475668.2_Missense_Mutation_p.D1360N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1360	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGATTTTCCTGATGTTGTTGT	0.438																																																	0													286	244	258					7																	141760129		2080	4212	6292	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4078G>A	7.37:g.141760129G>A	ENSP00000447378:p.Asp1360Asn		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.D1360N	ENST00000549489.2	37	c.4078	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.980819	0.00448	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.88509	-2.39	3.89	0.812	0.18744	Glycoside hydrolase, superfamily (1);	.	.	.	.	T	0.56292	0.1975	N	0.00149	-1.99	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.58405	-0.7642	9	0.02654	T	1	.	7.6583	0.28388	0.4107:0.0:0.5893:0.0	.	1360	O43451	MGA_HUMAN	N	1360;1360;1237	ENSP00000447378:D1360N	ENSP00000316431:D1237N	D	+	1	0	MGAM	141406598	0.000000	0.05858	0.499000	0.27577	0.025000	0.11179	0.435000	0.21510	0.318000	0.23185	0.194000	0.17425	GAT	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141760129	1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.987	A	A	141760129	G	A	141760129	3	1	171	1	0	0	0	0	1	0	0	0	9564	1290	45	1	4208	1	MGAM	7	141760129	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	12262742	141760129	17378534	90	32411										
SLC39A14	23516	genome.wustl.edu	37	chr8	22262421	22262421	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cagcagctgaaggccctactCaaccacctggatgtgggagt	12	12	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:22262421C>G	ENST00000381237.1	+	2	317	c.198C>G	c.(196-198)ctC>ctG	p.L66L	SLC39A14_ENST00000240095.6_Silent_p.L66L|SLC39A14_ENST00000359741.5_Silent_p.L66L|SLC39A14_ENST00000289952.5_Silent_p.L66L	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	66					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		AGGCCCTACTCAACCACCTGG	0.602																																																	0													68	63	65					8																	22262421		2203	4300	6503	SO:0001819	synonymous_variant	23516			D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"Solute carriers"	20858	protein-coding gene	gene with protein product		608736	"solute carrier family 39 (metal ion transporter), member 14"			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.198C>G	8.37:g.22262421C>G			A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Silent	SNP	pfam_ZIP	p.L66	ENST00000381237.1	37	c.198	CCDS47823.1	8																																																																																			SLC39A14	-	NULL		0.602	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A14	HGNC	protein_coding	OTTHUMT00000215039.2	C	XM_046677		22262421	1	no_errors	ENST00000359741	ensembl	human	known	70_37	silent	SNP	1.000	G	G	22262421	C	G	22262421	2	3	171	1	0	0	0	0	0	0	0	1	14647	813	29	1		1	SLC39A14	8	22262421	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09		22262421	124101601	91	32412										
KIF13B	23303	genome.wustl.edu	37	chr8	28988170	28988170	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cagaattccaatttcctggtCacttcactccatctaggaaa	5	12	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:28988170C>T	ENST00000524189.1	-	24	2993	c.2955G>A	c.(2953-2955)gtG>gtA	p.V985V	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	985					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATTTCCTGGTCACTTCACTCC	0.393																																																	0													116	107	109					8																	28988170		1827	4089	5916	SO:0001819	synonymous_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2955G>A	8.37:g.28988170C>T			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V985	ENST00000524189.1	37	c.2955	CCDS55217.1	8																																																																																			KIF13B	-	NULL		0.393	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	C			28988170	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	silent	SNP	0.989	T	T	28988170	C	T	28988170	2	4	171	1	0	0	0	0	0	0	0	1	8295	813	29	1		1	KIF13B	8	28988170	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	6725749	28988170	117375852	92	32413										
SNTG1	54212	genome.wustl.edu	37	chr8	51415431	51415431	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcaaactcccattgaatgaaGattgtgcatgtaagcattta	7	7	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:51415431G>C	ENST00000522124.1	+	9	1118	c.457G>C	c.(457-459)Gat>Cat	p.D153H	SNTG1_ENST00000276467.5_Missense_Mutation_p.D153H|SNTG1_ENST00000517473.1_Missense_Mutation_p.D153H|SNTG1_ENST00000518864.1_Missense_Mutation_p.D153H	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	153					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTGAATGAAGATTGTGCATG	0.323																																																	0													64	61	62					8																	51415431		2203	4300	6503	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.457G>C	8.37:g.51415431G>C	ENSP00000429842:p.Asp153His		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.D153H	ENST00000522124.1	37	c.457	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865406	0.71949	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.29917	1.55;1.55;2.3;2.3	4.86	4.86	0.63082	.	0.048094	0.85682	D	0.000000	T	0.50394	0.1613	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.958;0.994	T	0.49615	-0.8921	10	0.54805	T	0.06	.	16.9297	0.86187	0.0:0.0:1.0:0.0	.	153;153	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	H	153	ENSP00000429276:D153H;ENSP00000429842:D153H;ENSP00000431123:D153H;ENSP00000276467:D153H	ENSP00000276467:D153H	D	+	1	0	SNTG1	51577984	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.813000	0.86123	2.394000	0.81467	0.655000	0.94253	GAT	SNTG1	-	NULL		0.323	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	G			51415431	1	no_errors	ENST00000518864	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51415431	G	C	51415431	3	2	171	1	0	0	0	0	1	0	0	0	14904	942	33	1	483	1	SNTG1	8	51415431	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	22427261	51415431	94948591	93	32414										
CHD7	55636	genome.wustl.edu	37	chr8	61707669	61707669	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ctcctcctcctgaagaagatGaggacccaggtgttcaggta	11	11	1	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:61707669G>A	ENST00000423902.2	+	4	2700	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	CHD7_ENST00000525508.1_Missense_Mutation_p.E741K|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	741					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAAGAAGATGAGGACCCAGG	0.433																																																	1	Insertion - In frame(1)	lung(1)											97	98	98					8																	61707669		1837	4081	5918	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2221G>A	8.37:g.61707669G>A	ENSP00000392028:p.Glu741Lys		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E741K	ENST00000423902.2	37	c.2221	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741512	0.69304	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.81821	-1.54;-1.11	5.73	5.73	0.89815	.	0.154150	0.30419	N	0.009666	T	0.67757	0.2927	N	0.08118	0	0.51767	D	0.999939	B	0.20780	0.048	B	0.18263	0.021	T	0.61187	-0.7113	10	0.33940	T	0.23	-17.5982	20.2602	0.98440	0.0:0.0:1.0:0.0	.	741	Q9P2D1	CHD7_HUMAN	K	741	ENSP00000392028:E741K;ENSP00000436027:E741K	ENSP00000307304:E741K	E	+	1	0	CHD7	61870223	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	7.898000	0.87363	2.861000	0.98227	0.655000	0.94253	GAG	CHD7	-	NULL		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61707669	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61707669	G	A	61707669	3	1	171	1	0	0	0	0	1	0	0	0	3335	1291	45	1	2231	1	CHD7	8	61707669	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	10292238	61707669	84656353	94	32415										
CHD7	55636	genome.wustl.edu	37	chr8	61750246	61750246	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggctcaggctagatgtcataGaataggacagagcaaatctg	12	7	3	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:61750246G>C	ENST00000423902.2	+	18	4684	c.4205G>C	c.(4204-4206)aGa>aCa	p.R1402T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1402	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGATGTCATAGAATAGGACAG	0.393																																																	0													32	30	31					8																	61750246		1834	4087	5921	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4205G>C	8.37:g.61750246G>C	ENSP00000392028:p.Arg1402Thr		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1402T	ENST00000423902.2	37	c.4205	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.078429	0.94000	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.97888	-4.59	5.83	5.83	0.93111	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.99719	4.725	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97894	1.0299	10	0.87932	D	0	-17.8429	20.1338	0.98010	0.0:0.0:1.0:0.0	.	1402	Q9P2D1	CHD7_HUMAN	T	1402	ENSP00000392028:R1402T	ENSP00000307304:R1402T	R	+	2	0	CHD7	61912800	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.869000	0.99810	2.770000	0.95276	0.655000	0.94253	AGA	CHD7	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61750246	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61750246	G	C	61750246	3	2	171	1	0	0	0	0	1	0	0	0	3335	942	33	1	4271	1	CHD7	8	61750246	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	42577	61750246	84613776	95	32416										
CHD7	55636	genome.wustl.edu	37	chr8	61750713	61750713	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cactcatggatgaggaggatGaagggtctaaattctgtgaa	13	5	3	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:61750713G>A	ENST00000423902.2	+	19	4911	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1478					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAGGAGGATGAAGGGTCTAA	0.408																																																	0													65	59	61					8																	61750713		1897	4121	6018	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4432G>A	8.37:g.61750713G>A	ENSP00000392028:p.Glu1478Lys		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1478K	ENST00000423902.2	37	c.4432	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.433318	0.96150	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.84589	-1.87	5.32	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	L	0.45352	1.415	0.80722	D	1	B	0.24368	0.102	B	0.40256	0.324	D	0.84111	0.0401	10	0.72032	D	0.01	-22.0109	14.5591	0.68123	0.0708:0.0:0.9292:0.0	.	1478	Q9P2D1	CHD7_HUMAN	K	1478	ENSP00000392028:E1478K	ENSP00000307304:E1478K	E	+	1	0	CHD7	61913267	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.813000	0.99286	1.391000	0.46566	0.655000	0.94253	GAA	CHD7	-	NULL		0.408	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61750713	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61750713	G	A	61750713	3	1	171	1	0	0	0	0	1	0	0	0	3335	1291	45	1	4502	1	CHD7	8	61750713	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	467	61750713	84613309	96	32417										
CPA6	57094	genome.wustl.edu	37	chr8	68421816	68421816	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agaacatgtgaatgaggcctGagtgagttttattcagatga	12	4	1	7			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:68421816G>A	ENST00000297770.4	-	5	685	c.470C>T	c.(469-471)tCa>tTa	p.S157L	CPA6_ENST00000518549.1_Missense_Mutation_p.S157L|CPA6_ENST00000297769.4_Missense_Mutation_p.S9L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	157						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AATGAGGCCTGAGTGAGTTTT	0.303																																																	0													79	78	78					8																	68421816		2203	4298	6501	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.470C>T	8.37:g.68421816G>A	ENSP00000297770:p.Ser157Leu		Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.S157L	ENST00000297770.4	37	c.470	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941152	0.92526	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.33216	1.42;1.42;3.82	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (2);	0.332680	0.33127	N	0.005243	T	0.51381	0.1671	M	0.75150	2.29	0.44694	D	0.99768	P;P;P	0.47910	0.804;0.902;0.87	P;B;P	0.53360	0.462;0.415;0.724	T	0.54964	-0.8214	10	0.87932	D	0	.	18.9697	0.92709	0.0:0.0:1.0:0.0	.	157;9;157	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	L	9;157;157	ENSP00000297769:S9L;ENSP00000297770:S157L;ENSP00000431112:S157L	ENSP00000297769:S9L	S	-	2	0	CPA6	68584370	1.000000	0.71417	0.957000	0.39632	0.962000	0.63368	8.236000	0.89805	2.582000	0.87167	0.650000	0.86243	TCA	CPA6	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.303	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	G	NM_020361		68421816	-1	no_errors	ENST00000297770	ensembl	human	known	70_37	missense	SNP	0.997	A	A	68421816	G	A	68421816	3	1	171	1	0	0	0	0	1	0	0	0	3799	1294	45	1	871	1	CPA6	8	68421816	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	6671103	68421816	77942206	97	32418										
CDH17	1015	genome.wustl.edu	37	chr8	95186037	95186037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggtactacctgagtgattttGatggggtgaggatcagttga	15	4	1	5			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:95186037G>C	ENST00000027335.3	-	7	895	c.771C>G	c.(769-771)atC>atG	p.I257M	CDH17_ENST00000450165.2_Missense_Mutation_p.I257M|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GAGTGATTTTGATGGGGTGAG	0.443																																																	0													163	162	163					8																	95186037		2203	4300	6503	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.771C>G	8.37:g.95186037G>C	ENSP00000027335:p.Ile257Met		Q15336|Q2M2E0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I257M	ENST00000027335.3	37	c.771	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	G	8.950	0.968021	0.18659	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.59364	0.27;0.27	5.96	-0.0319	0.13907	Cadherin (2);Cadherin-like (1);	0.861859	0.10109	N	0.714949	T	0.32224	0.0822	N	0.04805	-0.155	0.31038	N	0.7167	B	0.20550	0.046	B	0.24269	0.052	T	0.34800	-0.9814	10	0.28530	T	0.3	-1.5472	6.9934	0.24767	0.0733:0.4404:0.373:0.1132	.	257	Q12864	CAD17_HUMAN	M	257	ENSP00000027335:I257M;ENSP00000401468:I257M	ENSP00000027335:I257M	I	-	3	3	CDH17	95255213	0.988000	0.35896	0.982000	0.44146	0.972000	0.66771	0.234000	0.17930	0.298000	0.22638	0.655000	0.94253	ATC	CDH17	-	superfamily_Cadherin-like,pfscan_Cadherin		0.443	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	G	NM_004063		95186037	-1	no_errors	ENST00000027335	ensembl	human	known	70_37	missense	SNP	0.863	C	C	95186037	G	C	95186037	3	2	171	1	0	0	0	0	1	0	0	0	3107	1280	45	1	1775	1	CDH17	8	95186037	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	26764221	95186037	51177985	98	32419										
RPL8	6132	genome.wustl.edu	37	chr8	146015306	146015306	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cggatggtggagggcttgccGatgtgctggtggttgccacc	18	9	0	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:146015306G>A	ENST00000262584.3	-	6	889	c.657C>T	c.(655-657)atC>atT	p.I219I	RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Silent_p.I219I|ZNF34_ENST00000343459.4_5'Flank|ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000527914.1_Silent_p.I110I|RPL8_ENST00000394920.2_Silent_p.I219I	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	219					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		AGGGCTTGCCGATGTGCTGGT	0.632																																																	0													89	88	89					8																	146015306		2203	4300	6503	SO:0001819	synonymous_variant	6132			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"L ribosomal proteins"	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.657C>T	8.37:g.146015306G>A			A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2	p.I219	ENST00000262584.3	37	c.657	CCDS6433.1	8																																																																																			RPL8	-	pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2		0.632	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL8	HGNC	protein_coding	OTTHUMT00000382948.1	G	NM_000973		146015306	-1	no_errors	ENST00000262584	ensembl	human	known	70_37	silent	SNP	0.636	A	A	146015306	G	A	146015306	2	1	171	1	0	0	0	0	0	0	0	1	13632	1048	37	1		1	RPL8	8	146015306	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	50829269	146015306	348716	99	32420										
SMARCA2	6595	genome.wustl.edu	37	chr9	2115948	2115948	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	caaaatacaagctgaacgtgGatcagaaagtgatccaggcg	11	8	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:2115948G>C	ENST00000382203.1	+	25	3792	c.3583G>C	c.(3583-3585)Gat>Cat	p.D1195H	SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1195H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1195H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1195H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1195	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCTGAACGTGGATCAGAAAGT	0.557																																																	0													48	46	47					9																	2115948		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3583G>C	9.37:g.2115948G>C	ENSP00000371638:p.Asp1195His		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.D1195H	ENST00000382203.1	37	c.3583	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516633	0.44763	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.67	4.78	0.61160	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87912	0.6297	M	0.88979	2.995	0.80722	D	1	D;P;P	0.89917	1.0;0.954;0.923	D;P;P	0.85130	0.997;0.675;0.476	D	0.90219	0.4270	10	0.87932	D	0	-23.6951	14.5948	0.68397	0.07:0.0:0.93:0.0	.	796;1195;1195	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	H	1195	ENSP00000265773:D1195H;ENSP00000349788:D1195H;ENSP00000371638:D1195H;ENSP00000371629:D1195H	ENSP00000265773:D1195H	D	+	1	0	SMARCA2	2105948	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	9.869000	0.99810	1.412000	0.46977	-0.251000	0.11542	GAT	SMARCA2	-	pfscan_Helicase_C		0.557	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2115948	1	no_errors	ENST00000349721	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2115948	G	C	2115948	3	2	171	1	0	0	0	0	1	0	0	0	14799	1174	41	1	3677	1	SMARCA2	9	2115948	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		2115948	139097483	100	32421										
SMARCA2	6595	genome.wustl.edu	37	chr9	2123896	2123896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggtcccgccagcgccgtgacGtggactacagtgacgccctc	13	16	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:2123896G>A	ENST00000382203.1	+	27	4149	c.3940G>A	c.(3940-3942)Gtg>Atg	p.V1314M	SMARCA2_ENST00000357248.2_Missense_Mutation_p.V1314M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.V1314M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.V1314M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1314					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCGCCGTGACGTGGACTACAG	0.547																																																	0													29	30	30					9																	2123896		2201	4298	6499	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3940G>A	9.37:g.2123896G>A	ENSP00000371638:p.Val1314Met		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.V1314M	ENST00000382203.1	37	c.3940	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090505	0.76756	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.89875	-2.58;-2.55;-2.58;-2.55	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.94735	0.8301	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.937;0.996;0.992	D	0.94564	0.7765	10	0.62326	D	0.03	-29.3927	19.7714	0.96367	0.0:0.0:1.0:0.0	.	915;1314;1314	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	M	1314	ENSP00000265773:V1314M;ENSP00000349788:V1314M;ENSP00000371638:V1314M;ENSP00000371629:V1314M	ENSP00000265773:V1314M	V	+	1	0	SMARCA2	2113896	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.832000	0.99423	2.666000	0.90696	0.655000	0.94253	GTG	SMARCA2	-	superfamily_RNaseH-like_dom		0.547	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2123896	1	no_errors	ENST00000349721	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2123896	G	A	2123896	3	1	171	1	0	0	0	0	1	0	0	0	14799	1145	40	2	4042	2	SMARCA2	9	2123896	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	7948	2123896	139089535	101	32422										
CCIN	881	genome.wustl.edu	37	chr9	36170051	36170051	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gttatctttggccgcctgctCcgtgatgaaaaccttcacgt	9	12	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:36170051C>G	ENST00000335119.2	+	1	663	c.552C>G	c.(550-552)ctC>ctG	p.L184L		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	184	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCCGCCTGCTCCGTGATGAAA	0.532																																																	0													56	55	55					9																	36170051		2203	4300	6503	SO:0001819	synonymous_variant	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.552C>G	9.37:g.36170051C>G			Q9BXG7	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L184	ENST00000335119.2	37	c.552	CCDS6599.1	9																																																																																			CCIN	-	pfam_BACK,smart_BACK		0.532	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	C	NM_005893		36170051	1	no_errors	ENST00000335119	ensembl	human	known	70_37	silent	SNP	0.989	G	G	36170051	C	G	36170051	2	3	171	1	0	0	0	0	0	0	0	1	2883	842	30	1		1	CCIN	9	36170051	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	34046155	36170051	105043380	102	32423										
GNE	10020	genome.wustl.edu	37	chr9	36246250	36246250	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gacttccccaccttcaatgtGaaggattcggatgttcatca	8	11	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:36246250G>A	ENST00000539815.1	-	2	434	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	GNE_ENST00000543356.2_Missense_Mutation_p.H127Y|GNE_ENST00000447283.2_Missense_Mutation_p.H132Y|GNE_ENST00000377902.5_Missense_Mutation_p.H132Y|GNE_ENST00000539208.1_Missense_Mutation_p.H73Y|GNE_ENST00000396594.3_Missense_Mutation_p.H163Y			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	132			H -> Q (in NM). {ECO:0000269|PubMed:12473753}.		carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CCTTCAATGTGAAGGATTCGG	0.488																																					GBM(184;106 2118 20004 35750 50727)												0													148	119	129					9																	36246250		2203	4300	6503	SO:0001583	missense	10020			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.394C>T	9.37:g.36246250G>A	ENSP00000439155:p.His132Tyr		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.H163Y	ENST00000539815.1	37	c.487	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530689	0.85706	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99955	-8.83;-8.83;-8.83;-8.83;-8.83	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.997;0.999;0.998;0.998	D	0.95550	0.8620	10	0.87932	D	0	-2.7842	17.0458	0.86502	0.0:0.0:1.0:0.0	.	73;91;163;132;132	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	Y	132;163;127;132;104;73;132	ENSP00000367134:H132Y;ENSP00000379839:H163Y;ENSP00000439155:H132Y;ENSP00000445117:H73Y;ENSP00000414760:H132Y	ENSP00000340770:H127Y	H	-	1	0	GNE	36236250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.930000	0.92872	2.623000	0.88846	0.467000	0.42956	CAC	GNE	-	pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase		0.488	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	G	NM_005476		36246250	-1	no_errors	ENST00000396594	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36246250	G	A	36246250	3	1	171	1	0	0	0	0	1	0	0	0	6541	1290	45	1	1814	1	GNE	9	36246250	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	76199	36246250	104967181	103	32424										
C9orf6	54942	genome.wustl.edu	37	chr9	111701683	111701683	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agttgtgttagaggacgtttGatggaagtgaatgaaaacat	13	2	0	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:111701683G>C	ENST00000322940.6	+	5	663	c.357G>C	c.(355-357)ttG>ttC	p.L119F	FAM206A_ENST00000374624.3_Intron	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	119						nucleus (GO:0005634)											GAGGACGTTTGATGGAAGTGA	0.294																																																	0													43	45	44					9																	111701683		2201	4300	6501	SO:0001583	missense	54942			BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 6"	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.357G>C	9.37:g.111701683G>C	ENSP00000363753:p.Leu119Phe		Q5JTR0|Q5JTR1	Missense_Mutation	SNP	pfam_GCV_H,superfamily_Single_hybrid_motif	p.L119F	ENST00000322940.6	37	c.357	CCDS6774.1	9	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065344	0.55432	.	.	ENSG00000119328	ENST00000322940;ENST00000445175	T;T	0.50277	0.75;0.75	5.9	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67440	-0.5670	10	0.72032	D	0.01	.	5.9115	0.19031	0.2298:0.1372:0.633:0.0	.	119	Q9NX38	F206A_HUMAN	F	119;84	ENSP00000363753:L119F;ENSP00000398018:L84F	ENSP00000363753:L119F	L	+	3	2	C9orf6	110741504	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	0.879000	0.28146	0.378000	0.24764	0.563000	0.77884	TTG	FAM206A	-	pfam_GCV_H,superfamily_Single_hybrid_motif		0.294	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM206A	HGNC	protein_coding	OTTHUMT00000053582.1	G	NM_017832		111701683	1	no_errors	ENST00000322940	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111701683	G	C	111701683	3	2	171	1	0	0	0	0	1	0	0	0	2493	1281	45	1	375	1	C9orf6	9	111701683	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	75455433	111701683	29511748	104	32425										
IER5L	389792	genome.wustl.edu	37	chr9	131939150	131939150	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	atggctcgagtccaggcgccGaggctggcgagcgcctgctt	16	13	0	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:131939150G>A	ENST00000372491.2	-	1	1390	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	394													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TCCAGGCGCCGAGGCTGGCGA	0.731																																																	0													5	7	6					9																	131939150		1669	3794	5463	SO:0001819	synonymous_variant	389792			BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.1182C>T	9.37:g.131939150G>A			Q6P3E2	Silent	SNP	pfam_IER	p.L394	ENST00000372491.2	37	c.1182	CCDS43888.1	9																																																																																			IER5L	-	pfam_IER		0.731	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER5L	HGNC	protein_coding	OTTHUMT00000054556.2	G			131939150	-1	no_errors	ENST00000372491	ensembl	human	known	70_37	silent	SNP	1.000	A	A	131939150	G	A	131939150	2	1	171	1	0	0	0	0	0	0	0	1	7529	1045	37	1		1	IER5L	9	131939150	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	20237467	131939150	9274281	105	32426										
C9orf69	90120	genome.wustl.edu	37	chr9	139008588	139008588	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aagtagagtaggaagcggatGaagccgtacagccagcgcgt	15	8	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:139008588G>A	ENST00000418388.1	-	2	661	c.159C>T	c.(157-159)ttC>ttT	p.F53F	C9orf69_ENST00000561457.1_Missense_Mutation_p.S78L			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	53					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GGAAGCGGATGAAGCCGTACA	0.647																																																	0													74	93	87					9																	139008588		2122	4229	6351	SO:0001819	synonymous_variant	90120				CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.159C>T	9.37:g.139008588G>A				Missense_Mutation	SNP	NULL	p.S78L	ENST00000418388.1	37	c.233	CCDS59155.1	9																																																																																			C9orf69	-	NULL		0.647	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C9orf69	HGNC	protein_coding	OTTHUMT00000055043.3	G	NM_152833		139008588	-1	no_errors	ENST00000561457	ensembl	human	known	70_37	missense	SNP	1.000	A	A	139008588	G	A	139008588	2	1	171	1	0	0	0	0	0	0	0	1	2497	1294	45	1		1	C9orf69	9	139008588	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	7069438	139008588	2204843	106	32427										
C9orf69	90120	genome.wustl.edu	37	chr9	139008612	139008612	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ccgtacagccagcgcgtcttGatgtacacgtcgaagttgtt	11	11	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:139008612G>C	ENST00000418388.1	-	2	637	c.135C>G	c.(133-135)atC>atG	p.I45M	C9orf69_ENST00000561457.1_Nonsense_Mutation_p.S70*			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	45					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		AGCGCGTCTTGATGTACACGT	0.657																																																	0													75	92	86					9																	139008612		2106	4217	6323	SO:0001583	missense	90120				CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.135C>G	9.37:g.139008612G>C	ENSP00000453019:p.Ile45Met			Nonsense_Mutation	SNP	NULL	p.S70*	ENST00000418388.1	37	c.209	CCDS59155.1	9																																																																																			C9orf69	-	NULL		0.657	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C9orf69	HGNC	protein_coding	OTTHUMT00000055043.3	G	NM_152833		139008612	-1	no_errors	ENST00000561457	ensembl	human	known	70_37	nonsense	SNP	0.997	C	C	139008612	G	C	139008612	3	2	171	1	0	0	0	0	1	0	0	0	2497	1294	45	1	202	1	C9orf69	9	139008612	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	24	139008612	2204819	107	32428										
ANAPC2	29882	genome.wustl.edu	37	chr9	140082187	140082187	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aaggttctgggggtgctaaaGaacaagactccgcgcaacat	12	9	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:140082187G>C	ENST00000323927.2	-	2	490	c.486C>G	c.(484-486)ttC>ttG	p.F162L	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	162					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GGGTGCTAAAGAACAAGACTC	0.547																																																	0													81	83	83					9																	140082187		2203	4300	6503	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.486C>G	9.37:g.140082187G>C	ENSP00000314004:p.Phe162Leu		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.F162L	ENST00000323927.2	37	c.486	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	G	0.278	-0.988312	0.02162	.	.	ENSG00000176248	ENST00000323927	T	0.75938	-0.98	4.34	0.343	0.16001	.	0.054287	0.85682	D	0.000000	T	0.54191	0.1843	L	0.37630	1.12	0.41736	D	0.989587	B;B	0.12013	0.003;0.005	B;B	0.13407	0.003;0.009	T	0.45673	-0.9245	10	0.02654	T	1	-25.0573	7.5303	0.27679	0.3997:0.0:0.6003:0.0	.	162;162	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	L	162	ENSP00000314004:F162L	ENSP00000314004:F162L	F	-	3	2	ANAPC2	139202008	1.000000	0.71417	0.991000	0.47740	0.379000	0.30106	2.829000	0.48128	-0.111000	0.12001	0.462000	0.41574	TTC	ANAPC2	-	NULL		0.547	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	G	NM_013366		140082187	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140082187	G	C	140082187	3	2	171	1	0	0	0	0	1	0	0	0	603	933	33	1	2030	1	ANAPC2	9	140082187	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	1073575	140082187	1131244	108	32429										
CCDC3	83643	genome.wustl.edu	37	chr10	13040405	13040405	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gctgcccttgcgaacagtttGaaaactggaaaaggctagaa	11	8	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:13040405G>C	ENST00000378825.3	-	2	608	c.482C>G	c.(481-483)tCa>tGa	p.S161*	CCDC3_ENST00000378839.1_Nonsense_Mutation_p.S36*	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	161						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CGAACAGTTTGAAAACTGGAA	0.458																																																	0													108	98	101					10																	13040405		2203	4300	6503	SO:0001587	stop_gained	83643			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.482C>G	10.37:g.13040405G>C	ENSP00000368102:p.Ser161*		Q5VYV8|Q5VYV9	Nonsense_Mutation	SNP	NULL	p.S161*	ENST00000378825.3	37	c.482	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.311747	0.98203	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	4.92	4.92	0.64577	.	0.116551	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-28.6593	17.4933	0.87710	0.0:0.0:1.0:0.0	.	.	.	.	X	36;161	.	ENSP00000368102:S161X	S	-	2	0	CCDC3	13080411	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.341000	0.97041	2.433000	0.82419	0.462000	0.41574	TCA	CCDC3	-	NULL		0.458	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1	G	NM_031455		13040405	-1	no_errors	ENST00000378825	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	13040405	G	C	13040405	4	2	171	1	0	0	0	0	0	1	0	0	2809	1294	45	1	338	1	CCDC3	10	13040405	Nonsense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		13040405	122494342	109	32430										
NMT2	9397	genome.wustl.edu	37	chr10	15175359	15175359	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	caccatgagatgttatgactTcatctgaacagggagagaaa	10	7	2	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:15175359T>G	ENST00000378165.4	-	4	475	c.395A>C	c.(394-396)gAa>gCa	p.E132A	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.E119A|NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.E119A	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	132					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TGTTATGACTTCATCTGAACA	0.388																																					Melanoma(117;1345 1645 4130 12688 30625)												0													139	136	137					10																	15175359		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.395A>C	10.37:g.15175359T>G	ENSP00000367407:p.Glu132Ala		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.E163A	ENST00000378165.4	37	c.488	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569516	0.86439	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000535341	T	0.55052	0.54	5.54	5.54	0.83059	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	L	0.56280	1.765	0.80722	D	1	D;D;D	0.56968	0.96;0.978;0.96	P;P;P	0.56612	0.648;0.802;0.648	T	0.66143	-0.5997	10	0.59425	D	0.04	-33.2604	15.6853	0.77405	0.0:0.0:0.0:1.0	.	132;119;132	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	A	132;119;163;119	ENSP00000367407:E132A	ENSP00000367385:E163A	E	-	2	0	NMT2	15215365	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.977000	0.88081	2.093000	0.63338	0.533000	0.62120	GAA	NMT2	-	superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.388	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	T	NM_004808		15175359	-1	no_errors	ENST00000378143	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15175359	T	G	15175359	3	3	171	1	0	0	0	0	1	0	0	0	10528	1783	62	5	1137	5	NMT2	10	15175359	Missense_Mutation	SNP	T	TCGA-LP-A5U2-01A-11D-A28B-09	2134954	15175359	120359388	110	32431										
ANK3	288	genome.wustl.edu	37	chr10	61829982	61829982	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tgatttactgtcaaaaacttCatcatcccctcggttattag	5	10	3	1	rs376597004		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:61829982C>T	ENST00000280772.2	-	37	10848	c.10657G>A	c.(10657-10659)Gaa>Aaa	p.E3553K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3553					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAAAAACTTCATCATCCCCT	0.448																																																	0								C	,,,LYS/GLU	0,4406		0,0,2203	87	88	88		,,,10657	5.8	1	10		88	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,benign	,,,3553/4378	61829982	1,13005	2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10657G>A	10.37:g.61829982C>T	ENSP00000280772:p.Glu3553Lys		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E3553K	ENST00000280772.2	37	c.10657	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218639	0.58560	0.0	1.16E-4	ENSG00000151150	ENST00000280772	T	0.29397	1.57	5.77	5.77	0.91146	.	0.159645	0.29246	N	0.012720	T	0.31199	0.0789	L	0.38175	1.15	0.80722	D	1	B	0.21606	0.058	B	0.22601	0.04	T	0.05451	-1.0884	10	0.66056	D	0.02	.	19.9837	0.97340	0.0:1.0:0.0:0.0	.	3553	Q12955	ANK3_HUMAN	K	3553	ENSP00000280772:E3553K	ENSP00000280772:E3553K	E	-	1	0	ANK3	61499988	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.920000	0.70017	2.723000	0.93209	0.655000	0.94253	GAA	ANK3	-	NULL		0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61829982	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61829982	C	T	61829982	3	4	171	1	0	0	0	0	1	0	0	0	622	835	29	1	2817	1	ANK3	10	61829982	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	46654623	61829982	73704765	111	32432										
TET1	80312	genome.wustl.edu	37	chr10	70426846	70426846	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gaaaaagttctttgtttggtCcggcagcgtacaggccacca	11	10	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:70426846C>T	ENST00000373644.4	+	7	4715	c.4506C>T	c.(4504-4506)gtC>gtT	p.V1502V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1502					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTGTTTGGTCCGGCAGCGTA	0.458																																																	0													106	98	101					10																	70426846		2203	4300	6503	SO:0001819	synonymous_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4506C>T	10.37:g.70426846C>T			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.V1502	ENST00000373644.4	37	c.4506	CCDS7281.1	10																																																																																			TET1	-	NULL		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70426846	1	no_errors	ENST00000373644	ensembl	human	known	70_37	silent	SNP	0.973	T	T	70426846	C	T	70426846	2	4	171	1	0	0	0	0	0	0	0	1	15799	842	30	1		1	TET1	10	70426846	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	8596864	70426846	65107901	112	32433										
CCAR1	55749	genome.wustl.edu	37	chr10	70507287	70507287	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttacaccactattgcagactCaaccacagcccttattacag	4	14	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:70507287C>T	ENST00000265872.6	+	8	909	c.790C>T	c.(790-792)Caa>Taa	p.Q264*	CCAR1_ENST00000543719.1_Nonsense_Mutation_p.Q249*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.Q249*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	264					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATTGCAGACTCAACCACAGCC	0.433																																																	0													137	134	135					10																	70507287		2203	4300	6503	SO:0001587	stop_gained	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.790C>T	10.37:g.70507287C>T	ENSP00000265872:p.Gln264*		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.Q264*	ENST00000265872.6	37	c.790	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662865	0.88251	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012;ENST00000540807	.	.	.	5.06	5.06	0.68205	.	0.060127	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-7.9331	18.781	0.91932	0.0:1.0:0.0:0.0	.	.	.	.	X	264;249;249;249;238;69;69	.	ENSP00000265872:Q264X	Q	+	1	0	CCAR1	70177293	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.044000	0.76578	2.526000	0.85167	0.655000	0.94253	CAA	CCAR1	-	NULL		0.433	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	C	NM_018237		70507287	1	no_errors	ENST00000265872	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	70507287	C	T	70507287	4	4	171	1	0	0	0	0	0	1	0	0	2735	827	29	1	816	1	CCAR1	10	70507287	Nonsense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	80441	70507287	65027460	113	32434										
POLR3A	11128	genome.wustl.edu	37	chr10	79773485	79773485	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	catttcatcaccatcaaagtCagcattatagggtgtacaga	7	9	4	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:79773485C>T	ENST00000372371.3	-	11	1632	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	499					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCATCAAAGTCAGCATTATAG	0.478																																																	0													143	128	133					10																	79773485		2203	4300	6503	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1495G>A	10.37:g.79773485C>T	ENSP00000361446:p.Asp499Asn		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.D499N	ENST00000372371.3	37	c.1495	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.688314	0.96784	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	D	0.98649	-5.05	5.69	5.69	0.88448	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.97406	0.9999	9	.	.	.	-33.7233	19.8056	0.96531	0.0:1.0:0.0:0.0	.	499	O14802	RPC1_HUMAN	N	499	ENSP00000361446:D499N	.	D	-	1	0	POLR3A	79443491	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.416000	0.80143	2.688000	0.91661	0.650000	0.86243	GAC	POLR3A	-	pfam_RNA_pol_asu,smart_RNA_pol_N		0.478	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	C	NM_007055		79773485	-1	no_errors	ENST00000372371	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79773485	C	T	79773485	3	4	171	1	0	0	0	0	1	0	0	0	12252	826	29	1	2761	1	POLR3A	10	79773485	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	9266198	79773485	55761262	114	32435										
C10orf116	10974	genome.wustl.edu	37	chr10	88729960	88729960	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	acatctctctgttccagtgtCagcggccggagcggcagctc	12	14	3	0	rs143202580		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:88729960C>T	ENST00000372013.3	+	2	418	c.65C>T	c.(64-66)tCa>tTa	p.S22L	ADIRF-AS1_ENST00000609111.1_RNA|ADIRF-AS1_ENST00000440490.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.15_ENST00000609363.1_RNA|ADIRF-AS1_ENST00000418273.2_RNA	NM_006829.2	NP_006820.1	Q15847	ADIRF_HUMAN	adipogenesis regulatory factor	22					cell differentiation (GO:0030154)|cellular response to cisplatin (GO:0072719)|cellular response to radiation (GO:0071478)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of response to drug (GO:2001023)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GTTCCAGTGTCAGCGGCCGGA	0.637																																																	0								C	LEU/SER	1,4357		0,1,2178	23	28	26		65	2.8	0.3	10	dbSNP_134	26	0,8510		0,0,4255	no	missense	C10orf116	NM_006829.2	145	0,1,6433	TT,TC,CC		0.0,0.0229,0.0078	benign	22/77	88729960	1,12867	2179	4255	6434	SO:0001583	missense	10974			BC004471	CCDS7381.1	10q23.31	2013-02-20	2013-02-20	2013-02-20	ENSG00000148671	ENSG00000148671			24043	protein-coding gene	gene with protein product	"adipose specific 2", "adipose most abundant gene transcript 2", "adipogenesis factor rich in obesity"		"chromosome 10 open reading frame 116"	C10orf116		8619847, 23239344	Standard	NM_006829		Approved	APM2, AFRO	uc001ked.2	Q15847	OTTHUMG00000018668	ENST00000372013.3:c.65C>T	10.37:g.88729960C>T	ENSP00000361083:p.Ser22Leu			Missense_Mutation	SNP	NULL	p.S22L	ENST00000372013.3	37	c.65	CCDS7381.1	10	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275735	0.40294	2.29E-4	0.0	ENSG00000148671	ENST00000372013	.	.	.	3.82	2.83	0.33086	.	0.894402	0.09090	U	0.849940	T	0.33294	0.0858	.	.	.	0.09310	N	1	B	0.19200	0.034	B	0.19946	0.027	T	0.22871	-1.0204	8	0.59425	D	0.04	.	9.0104	0.36137	0.219:0.781:0.0:0.0	.	22	Q15847	APM2_HUMAN	L	22	.	ENSP00000361083:S22L	S	+	2	0	C10orf116	88719940	0.001000	0.12720	0.260000	0.24451	0.400000	0.30750	-0.133000	0.10451	1.847000	0.53656	0.561000	0.74099	TCA	C10orf116	-	NULL		0.637	ADIRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf116	HGNC	protein_coding	OTTHUMT00000049194.1	C	NM_006829		88729960	1	no_errors	ENST00000372013	ensembl	human	known	70_37	missense	SNP	0.104	T	T	88729960	C	T	88729960	3	4	171	1	0	0	0	0	1	0	0	0	1590	838	29	1	71	1	C10orf116	10	88729960	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	8956475	88729960	46804787	115	32436										
GLUD1	2746	genome.wustl.edu	37	chr10	88820784	88820784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aacgatgtaaatatctcataGagtgtaggcccacattacca	7	9	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:88820784G>C	ENST00000277865.4	-	7	1043	c.947C>G	c.(946-948)tCt>tGt	p.S316C	GLUD1_ENST00000537649.1_Missense_Mutation_p.S149C|GLUD1_ENST00000544149.1_Missense_Mutation_p.S183C|GLUD1_ENST00000465164.1_5'UTR	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	316					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ATATCTCATAGAGTGTAGGCC	0.388																																																	0													192	192	192					10																	88820784		2203	4300	6503	SO:0001583	missense	2746			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.947C>G	10.37:g.88820784G>C	ENSP00000277865:p.Ser316Cys		B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.S316C	ENST00000277865.4	37	c.947	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531957	0.64972	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96334	-3.98;-3.98;-3.98	5.72	5.72	0.89469	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	L	0.35593	1.075	0.80722	D	1	B;B	0.20671	0.027;0.047	B;B	0.27715	0.051;0.082	D	0.90071	0.4163	10	0.51188	T	0.08	-30.5821	20.3045	0.98621	0.0:0.0:1.0:0.0	.	183;316	B4DGN5;P00367	.;DHE3_HUMAN	C	316;273;149;15;248;183	ENSP00000277865:S316C;ENSP00000439291:S149C;ENSP00000444732:S183C	ENSP00000277865:S316C	S	-	2	0	GLUD1	88810764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.975000	0.88055	2.878000	0.98634	0.650000	0.86243	TCT	GLUD1	-	pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH		0.388	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	G	NM_005271		88820784	-1	no_errors	ENST00000277865	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88820784	G	C	88820784	3	2	171	1	0	0	0	0	1	0	0	0	6495	942	33	1	757	1	GLUD1	10	88820784	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	90824	88820784	46713963	116	32437										
DNMBP	23268	genome.wustl.edu	37	chr10	101656053	101656053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aaagccagtgagatgcttcaGgtgactgctaactcggttgg	13	8	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:101656053G>T	ENST00000324109.4	-	10	3113	c.3022C>A	c.(3022-3024)Ctg>Atg	p.L1008M	DNMBP_ENST00000342239.3_Missense_Mutation_p.L1032M|DNMBP_ENST00000540316.1_Intron|DNMBP_ENST00000543621.1_Missense_Mutation_p.L254M	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1008	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGATGCTTCAGGTGACTGCTA	0.488																																																	0													181	144	156					10																	101656053		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3022C>A	10.37:g.101656053G>T	ENSP00000315659:p.Leu1008Met		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.L1032M	ENST00000324109.4	37	c.3094	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406393	0.42715	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.66638	-0.22;-0.22;-0.22	5.47	4.57	0.56435	BAR (3);	0.190511	0.25827	N	0.028059	T	0.77068	0.4076	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.971;0.993	T	0.76035	-0.3106	10	0.42905	T	0.14	-12.5581	9.2214	0.37379	0.0734:0.0:0.7823:0.1444	.	1008;254;1032	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	M	1032;1008;254;254	ENSP00000344914:L1032M;ENSP00000315659:L1008M;ENSP00000443657:L254M	ENSP00000315659:L1008M	L	-	1	2	DNMBP	101646043	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	3.291000	0.51764	1.319000	0.45190	-0.266000	0.10368	CTG	DNMBP	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.488	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	G	NM_015221		101656053	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101656053	G	T	101656053	3	4	171	1	0	0	0	0	1	0	0	0	4684	991	35	4	1743	4	DNMBP	10	101656053	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	12835269	101656053	33878694	117	32438										
PKD2L1	9033	genome.wustl.edu	37	chr10	102057141	102057141	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tagggaaagggggctcacctCaggacacagaaaagattgat	13	7	2	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:102057141C>G	ENST00000318222.3	-	5	1336	c.954G>C	c.(952-954)ctG>ctC	p.L318L	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Silent_p.L318L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	318					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGGCTCACCTCAGGACACAGA	0.557																																																	0													77	81	79					10																	102057141		2203	4300	6503	SO:0001819	synonymous_variant	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.954G>C	10.37:g.102057141C>G			O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.L318	ENST00000318222.3	37	c.954	CCDS7492.1	10																																																																																			PKD2L1	-	pfam_PKD1_2_channel,prints_PKD_2		0.557	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102057141	-1	no_errors	ENST00000318222	ensembl	human	known	70_37	silent	SNP	1.000	G	G	102057141	C	G	102057141	2	3	171	1	0	0	0	0	0	0	0	1	11991	813	29	1		1	PKD2L1	10	102057141	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	401088	102057141	33477606	118	32439										
SUFU	51684	genome.wustl.edu	37	chr10	104309818	104309818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agtctgccccaccaacatggCccgcagagttaatgcagggc	11	14	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:104309818C>T	ENST00000369902.3	+	3	575	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	SUFU_ENST00000369899.2_Missense_Mutation_p.P137S|SUFU_ENST00000423559.2_Missense_Mutation_p.P137S	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	137					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACCAACATGGCCCGCAGAGTT	0.542			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																														yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													117	108	111					10																	104309818		2203	4300	6503	SO:0001583	missense	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.409C>T	10.37:g.104309818C>T	ENSP00000358918:p.Pro137Ser		Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein	p.P137S	ENST00000369902.3	37	c.409	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.059559	0.93846	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.85629	-2.01;-2.01;-2.01	5.24	5.24	0.73138	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.94185	0.8134	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95097	0.8227	10	0.66056	D	0.02	-7.0606	18.8243	0.92111	0.0:1.0:0.0:0.0	.	137;137;137	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	S	137	ENSP00000358918:P137S;ENSP00000358915:P137S;ENSP00000411597:P137S	ENSP00000358915:P137S	P	+	1	0	SUFU	104299808	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.478000	0.81082	2.461000	0.83175	0.561000	0.74099	CCC	SUFU	-	pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein		0.542	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	C	NM_016169		104309818	1	no_errors	ENST00000369902	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104309818	C	T	104309818	3	4	171	1	0	0	0	0	1	0	0	0	15398	739	26	4	419	4	SUFU	10	104309818	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	2252677	104309818	31224929	119	32440										
CNNM2	54805	genome.wustl.edu	37	chr10	104679638	104679638	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggcgaagccatcctggacttCaacaccatgtctgagatcat	9	12	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:104679638C>G	ENST00000369878.4	+	1	1589	c.1401C>G	c.(1399-1401)ttC>ttG	p.F467L	CNNM2_ENST00000433628.2_Missense_Mutation_p.F467L|CNNM2_ENST00000369875.3_Missense_Mutation_p.F467L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	467	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCTGGACTTCAACACCATGT	0.572																																																	0													81	72	75					10																	104679638		2203	4300	6503	SO:0001583	missense	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1401C>G	10.37:g.104679638C>G	ENSP00000358894:p.Phe467Leu		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.F467L	ENST00000369878.4	37	c.1401	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813395	0.70912	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.74632	-0.73;-0.86;-0.7	4.82	4.82	0.62117	Cystathionine beta-synthase, core (1);	0.092380	0.85682	D	0.000000	D	0.86335	0.5908	M	0.79614	2.46	0.80722	D	1	B;B;D	0.71674	0.119;0.073;0.998	B;B;D	0.87578	0.273;0.141;0.998	D	0.87020	0.2128	10	0.46703	T	0.11	.	17.8941	0.88881	0.0:1.0:0.0:0.0	.	467;467;467	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	L	467	ENSP00000392875:F467L;ENSP00000358891:F467L;ENSP00000358894:F467L	ENSP00000286899:F467L	F	+	3	2	CNNM2	104669628	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.678000	0.46900	2.192000	0.70111	0.561000	0.74099	TTC	CNNM2	-	NULL		0.572	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	C	NM_017649		104679638	1	no_errors	ENST00000457502	ensembl	human	known	70_37	missense	SNP	1.000	G	G	104679638	C	G	104679638	3	3	171	1	0	0	0	0	1	0	0	0	3618	825	29	1	1403	1	CNNM2	10	104679638	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	369820	104679638	30855109	120	32441										
SEC23IP	11196	genome.wustl.edu	37	chr10	121652374	121652374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	taacttacttttctcctcctCggccacggagttcagcttca	6	14	3	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:121652374C>T	ENST00000369075.3	+	1	152	c.80C>T	c.(79-81)tCg>tTg	p.S27L	SEC23IP_ENST00000543134.1_5'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	27	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTCTCCTCCTCGGCCACGGAG	0.622																																																	0													61	53	56					10																	121652374		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.80C>T	10.37:g.121652374C>T	ENSP00000358071:p.Ser27Leu		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.S27L	ENST00000369075.3	37	c.80	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.580867	0.96565	.	.	ENSG00000107651	ENST00000369075	D	0.97041	-4.22	6.04	6.04	0.98038	.	0.173320	0.51477	D	0.000093	D	0.95872	0.8656	M	0.61703	1.905	0.80722	D	1	D	0.59357	0.985	B	0.40702	0.338	D	0.95764	0.8803	10	0.52906	T	0.07	-13.5611	18.3679	0.90398	0.0:1.0:0.0:0.0	.	27	Q9Y6Y8	S23IP_HUMAN	L	27	ENSP00000358071:S27L	ENSP00000358071:S27L	S	+	2	0	SEC23IP	121642364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.216000	0.58540	2.873000	0.98535	0.563000	0.77884	TCG	SEC23IP	-	NULL		0.622	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	C			121652374	1	no_errors	ENST00000369075	ensembl	human	known	70_37	missense	SNP	1.000	T	T	121652374	C	T	121652374	3	4	171	1	0	0	0	0	1	0	0	0	14023	893	31	1	82	1	SEC23IP	10	121652374	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	16972736	121652374	13882373	121	32442										
NLRP6	171389	genome.wustl.edu	37	chr11	280785	280785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ccgaggtgcgcggcttctccGacaaggacaagaagaagtat	13	10	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:280785G>T	ENST00000312165.5	+	4	1051	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	NLRP6_ENST00000534750.1_Missense_Mutation_p.D351Y	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	351	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGCTTCTCCGACAAGGACAA	0.667																																																	0																																										SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1051G>T	11.37:g.280785G>T	ENSP00000309767:p.Asp351Tyr		A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D351Y	ENST00000312165.5	37	c.1051	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107728	0.37242	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.78364	-1.17;-1.17	3.7	0.586	0.17434	NACHT nucleoside triphosphatase (1);	0.361737	0.20250	N	0.096100	D	0.84647	0.5518	M	0.82630	2.6	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.74674	0.984;0.975	T	0.73616	-0.3926	10	0.87932	D	0	.	4.756	0.13085	0.2129:0.3398:0.4473:0.0	.	351;351	E9PJZ8;P59044	.;NALP6_HUMAN	Y	351	ENSP00000433617:D351Y;ENSP00000309767:D351Y	ENSP00000309767:D351Y	D	+	1	0	NLRP6	270785	0.001000	0.12720	0.004000	0.12327	0.724000	0.41520	1.121000	0.31283	0.004000	0.14682	0.455000	0.32223	GAC	NLRP6	-	pfscan_NACHT_NTPase		0.667	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		280785	1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.019	T	T	280785	G	T	280785	3	4	171	1	0	0	0	0	1	0	0	0	10505	1058	37	3	1065	3	NLRP6	11	280785	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		280785	134725731	122	32443										
OR51V1	283111	genome.wustl.edu	37	chr11	5221348	5221348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gatgtctgaacaggctaagcGgagaagatcctggtgcaggc	15	8	1	3	rs151191536		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:5221348G>A	ENST00000321255.1	-	1	582	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	195					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGCTAAGCGGAGAAGATCC	0.398																																																	0								G	CYS/ARG	0,4402		0,0,2201	53	52	52		583	-2.7	0	11	dbSNP_134	52	1,8593		0,1,4296	no	missense	OR51V1	NM_001004760.2	180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	195/322	5221348	1,12995	2201	4297	6498	SO:0001583	missense	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.583C>T	11.37:g.5221348G>A	ENSP00000321729:p.Arg195Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R195C	ENST00000321255.1	37	c.583	CCDS31375.1	11	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410233	0.25465	0.0	1.16E-4	ENSG00000176742	ENST00000321255	T	0.38240	1.15	5.27	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.379029	0.17166	N	0.184450	T	0.62295	0.2416	H	0.94423	3.535	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.54139	-0.8338	10	0.72032	D	0.01	.	8.0072	0.30332	0.1393:0.0:0.2282:0.6325	.	195	Q9H2C8	O51V1_HUMAN	C	195	ENSP00000321729:R195C	ENSP00000321729:R195C	R	-	1	0	OR51V1	5177924	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.168000	0.09925	-0.284000	0.09102	0.655000	0.94253	CGC	OR51V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.398	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	G	NM_001004760		5221348	-1	no_errors	ENST00000321255	ensembl	human	known	70_37	missense	SNP	0.000	A	A	5221348	G	A	5221348	3	1	171	1	0	0	0	0	1	0	0	0	11131	1116	39	2	385	2	OR51V1	11	5221348	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	4940563	5221348	129785168	123	32444										
ST5	6764	genome.wustl.edu	37	chr11	8720516	8720516	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcagatcccagattcaccatCagcgcctgagaaaaggagtc	9	12	3	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:8720516C>G	ENST00000534127.1	-	19	3289	c.2904G>C	c.(2902-2904)ctG>ctC	p.L968L	ST5_ENST00000313726.6_Silent_p.L968L|ST5_ENST00000526099.1_Silent_p.L481L|ST5_ENST00000530438.1_Silent_p.L548L|ST5_ENST00000534278.1_Silent_p.L159L|ST5_ENST00000530991.1_Silent_p.L440L|RP11-152H18.3_ENST00000529883.1_RNA|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Silent_p.L548L|ST5_ENST00000357665.1_Silent_p.L968L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	968	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GATTCACCATCAGCGCCTGAG	0.577																																																	0													131	122	125					11																	8720516		2201	4296	6497	SO:0001819	synonymous_variant	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2904G>C	11.37:g.8720516C>G			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L968	ENST00000534127.1	37	c.2904	CCDS7791.1	11																																																																																			ST5	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	C	NM_005418		8720516	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	silent	SNP	1.000	G	G	8720516	C	G	8720516	2	3	171	1	0	0	0	0	0	0	0	1	15250	813	29	1		1	ST5	11	8720516	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	3499168	8720516	126286000	124	32445										
KCNA4	3739	genome.wustl.edu	37	chr11	30032518	30032518	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ctgttcctcattttcagtctCtctgtggtagaaatagttaa	7	8	4	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:30032518C>G	ENST00000328224.6	-	2	2941	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	570					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TTTTCAGTCTCTCTGTGGTAG	0.463																																																	0													73	78	76					11																	30032518		2045	4201	6246	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1708G>C	11.37:g.30032518C>G	ENSP00000328511:p.Glu570Gln			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E570Q	ENST00000328224.6	37	c.1708	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789459	0.70337	.	.	ENSG00000182255	ENST00000328224	D	0.97161	-4.27	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.99418	1.0932	10	0.87932	D	0	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	570	P22459	KCNA4_HUMAN	Q	570	ENSP00000328511:E570Q	ENSP00000328511:E570Q	E	-	1	0	KCNA4	29989094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.679000	0.91253	0.650000	0.86243	GAG	KCNA4	-	NULL		0.463	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	C	NM_002233		30032518	-1	no_errors	ENST00000328224	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30032518	C	G	30032518	3	3	171	1	0	0	0	0	1	0	0	0	8025	922	32	1	257	1	KCNA4	11	30032518	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	21312002	30032518	104973998	125	32446										
NAT10	55226	genome.wustl.edu	37	chr11	34155888	34155888	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gtgccttgaaggggagatttCtcgccagtccatcttgaaca	11	10	2	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:34155888C>T	ENST00000257829.3	+	17	1963	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	NAT10_ENST00000531159.2_Missense_Mutation_p.S514F|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	586	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGGGAGATTTCTCGCCAGTCC	0.532																																																	0													136	119	125					11																	34155888		2202	4298	6500	SO:0001583	missense	55226			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1757C>T	11.37:g.34155888C>T	ENSP00000257829:p.Ser586Phe		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S586F	ENST00000257829.3	37	c.1757	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.317734	0.95682	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.37235	1.21;1.21	5.83	5.83	0.93111	GCN5-related N-acetyltransferase (GNAT) domain (1);	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81174	-0.1053	10	0.87932	D	0	-18.423	20.124	0.97972	0.0:1.0:0.0:0.0	.	586	Q9H0A0	NAT10_HUMAN	F	586;514	ENSP00000257829:S586F;ENSP00000433011:S514F	ENSP00000257829:S586F	S	+	2	0	NAT10	34112464	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.787000	0.85759	2.770000	0.95276	0.561000	0.74099	TCT	NAT10	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.532	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	C	NM_024662		34155888	1	no_errors	ENST00000257829	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34155888	C	T	34155888	3	4	171	1	0	0	0	0	1	0	0	0	10197	913	32	1	1819	1	NAT10	11	34155888	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	4123370	34155888	100850628	126	32447										
PHF21A	51317	genome.wustl.edu	37	chr11	45955550	45955550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cttccccctggttacagttcGctgtgcagctctgggaggag	13	12	1	0	rs149898933	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:45955550G>A	ENST00000418153.2	-	18	2211	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	PHF21A_ENST00000323180.6_Missense_Mutation_p.A625V|PHF21A_ENST00000257821.4_Missense_Mutation_p.A672V			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	671	Required for transcriptional repression.			PSPSSQSCTANCNQGEETK -> LCSLPELHSEL (in Ref. 7). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GTTACAGTTCGCTGTGCAGCT	0.622													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		13950	0		0	False		,,,				2504	0																0								G	VAL/ALA,VAL/ALA	9,4395	15.5+/-35.6	0,9,2193	43	46	45		2012,1874	-2.6	1	11	dbSNP_134	45	0,8598		0,0,4299	yes	missense,missense	PHF21A	NM_001101802.1,NM_016621.3	64,64	0,9,6492	AA,AG,GG		0.0,0.2044,0.0692	benign,benign	671/681,625/635	45955550	9,12993	2202	4299	6501	SO:0001583	missense	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.2012C>T	11.37:g.45955550G>A	ENSP00000398824:p.Ala671Val		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A672V	ENST00000418153.2	37	c.2015	CCDS44578.1	11	.	.	.	.	.	.	.	.	.	.	G	9.672	1.147029	0.21288	0.002044	0.0	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153;ENST00000532028	D;D;D	0.94497	-3.01;-3.44;-3.03	5.63	-2.56	0.06268	.	0.662303	0.14881	N	0.292965	T	0.81735	0.4885	N	0.02011	-0.69	0.28946	N	0.890694	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.70332	-0.4901	10	0.28530	T	0.3	1.5263	11.6969	0.51548	0.6494:0.0:0.3506:0.0	.	671;625	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	V	672;625;671;146	ENSP00000257821:A672V;ENSP00000323152:A625V;ENSP00000398824:A671V	ENSP00000257821:A672V	A	-	2	0	PHF21A	45912126	0.999000	0.42202	0.984000	0.44739	0.941000	0.58515	0.495000	0.22483	-0.348000	0.08286	-1.340000	0.01251	GCG	PHF21A	-	NULL		0.622	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	G	NM_016621		45955550	-1	no_errors	ENST00000257821	ensembl	human	known	70_37	missense	SNP	0.945	A	A	45955550	G	A	45955550	3	1	171	1	0	0	0	0	1	0	0	0	11857	1087	38	2	34	2	PHF21A	11	45955550	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	11799662	45955550	89050966	127	32448										
PTPRJ	5795	genome.wustl.edu	37	chr11	48186061	48186061	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cataggcctttaatggtgcaGacagaggtgaggccaagatc	13	8	0	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:48186061G>A	ENST00000418331.2	+	24	4201	c.3849G>A	c.(3847-3849)caG>caA	p.Q1283Q		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1283	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TAATGGTGCAGACAGAGGTGA	0.428																																																	0													206	178	187					11																	48186061		2201	4298	6499	SO:0001819	synonymous_variant	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3849G>A	11.37:g.48186061G>A			Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1283	ENST00000418331.2	37	c.3849	CCDS7945.1	11																																																																																			PTPRJ	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.428	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	G			48186061	1	no_errors	ENST00000418331	ensembl	human	known	70_37	silent	SNP	1.000	A	A	48186061	G	A	48186061	2	1	171	1	0	0	0	0	0	0	0	1	12834	933	33	1		1	PTPRJ	11	48186061	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	2230511	48186061	86820455	128	32449										
PRG2	5553	genome.wustl.edu	37	chr11	57156581	57156581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tactgtgtcctcttcctcagGacacgtaaggtttttgtcca	8	11	2	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:57156581G>A	ENST00000311862.5	-	3	341	c.268C>T	c.(268-270)Cct>Tct	p.P90S	PRG2_ENST00000533605.1_Missense_Mutation_p.P90S|PRG2_ENST00000525955.1_Missense_Mutation_p.P90S|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.P195S	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	90					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	TCTTCCTCAGGACACGTAAGG	0.527																																																	0													144	131	136					11																	57156581		2201	4296	6497	SO:0001583	missense	5553			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.268C>T	11.37:g.57156581G>A	ENSP00000312134:p.Pro90Ser		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic	p.P90S	ENST00000311862.5	37	c.268	CCDS7955.1	11	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592442	0.66219	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;D	0.84070	1.03;2.69;1.03;-1.8	5.34	4.43	0.53597	C-type lectin (1);	0.000000	0.48286	D	0.000187	D	0.88415	0.6430	M	0.73598	2.24	0.09310	N	1	D;D	0.71674	0.991;0.998	P;P	0.62740	0.879;0.906	T	0.81035	-0.1115	10	0.62326	D	0.03	.	10.0477	0.42197	0.0937:0.0:0.9063:0.0	.	90;90	A6XMW0;P13727	.;PRG2_HUMAN	S	90;90;90;195	ENSP00000312134:P90S;ENSP00000433231:P90S;ENSP00000433016:P90S;ENSP00000431536:P195S	ENSP00000312134:P90S	P	-	1	0	RP11-872D17.8;PRG2	56913157	0.849000	0.29639	0.037000	0.18230	0.153000	0.21895	2.348000	0.44045	1.245000	0.43885	0.561000	0.74099	CCT	PRG2	-	smart_C-type_lectin,prints_Eosinophil_major_basic		0.527	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRG2	HGNC	protein_coding	OTTHUMT00000392468.1	G	NM_002728		57156581	-1	no_errors	ENST00000311862	ensembl	human	known	70_37	missense	SNP	0.204	A	A	57156581	G	A	57156581	3	1	171	1	0	0	0	0	1	0	0	0	12506	1174	41	1	416	1	PRG2	11	57156581	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	8970520	57156581	77849935	129	32450										
VEGFB	7423	genome.wustl.edu	37	chr11	64003440	64003440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gctgctgccctgacgatggcCtggagtgtgtgcccactggg	16	12	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:64003440C>T	ENST00000309422.2	+	3	555	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_Silent_p.L87L|RP11-783K16.14_ENST00000534988.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	87					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TGACGATGGCCTGGAGTGTGT	0.672																																																	0													40	36	37					11																	64003440		2198	4294	6492	SO:0001819	synonymous_variant	7423			BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.259C>T	11.37:g.64003440C>T			Q16528	Silent	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.L87	ENST00000309422.2	37	c.259	CCDS8062.1	11																																																																																			VEGFB	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor		0.672	VEGFB-001	KNOWN	basic|CCDS	protein_coding	VEGFB	HGNC	protein_coding	OTTHUMT00000396393.2	C	NM_003377		64003440	1	no_errors	ENST00000309422	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64003440	C	T	64003440	2	4	171	1	0	0	0	0	0	0	0	1	17182	680	24	4		4	VEGFB	11	64003440	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	6846859	64003440	71003076	130	32451										
PRDX5	25824	genome.wustl.edu	37	chr11	64089124	64089124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gaaccagatggcacaggcctCacctgcagcctggcacccaa	10	16	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:64089124C>T	ENST00000265462.4	+	6	734	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PRDX5_ENST00000347941.4_Silent_p.L113L|PRDX5_ENST00000352435.4_Silent_p.L158L	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	202	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	gcacaggcctcacctgcagcc	0.602																																																	0													51	40	44					11																	64089124		2201	4296	6497	SO:0001819	synonymous_variant	25824			AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"antioxidant enzyme B166", "thioredoxin peroxidase PMP20", "peroxisomal antioxidant enzyme", "TPx type VI", "liver tissue 2D-page spot 71B", "Alu co-repressor 1"	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.606C>T	11.37:g.64089124C>T			A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Silent	SNP	pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	p.L202	ENST00000265462.4	37	c.606	CCDS8069.1	11																																																																																			PRDX5	-	superfamily_Thioredoxin-like_fold		0.602	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX5	HGNC	protein_coding	OTTHUMT00000401148.1	C	NM_181651		64089124	1	no_errors	ENST00000265462	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64089124	C	T	64089124	2	4	171	1	0	0	0	0	0	0	0	1	12495	813	29	1		1	PRDX5	11	64089124	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	85684	64089124	70917392	131	32452										
PCNXL3	399909	genome.wustl.edu	37	chr11	65394439	65394439	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cagtgcgtagagaagtacctCatctaccccgccgtggtgct	11	13	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:65394439C>T	ENST00000355703.3	+	21	3983	c.3444C>T	c.(3442-3444)ctC>ctT	p.L1148L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1148						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGAAGTACCTCATCTACCCCG	0.617																																																	0													58	67	64					11																	65394439		2145	4227	6372	SO:0001819	synonymous_variant	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3444C>T	11.37:g.65394439C>T			Q6MZN8	Silent	SNP	pfam_Pecanex	p.L1148	ENST00000355703.3	37	c.3444	CCDS44650.1	11																																																																																			PCNXL3	-	NULL		0.617	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	C	NM_032223		65394439	1	no_errors	ENST00000355703	ensembl	human	known	70_37	silent	SNP	1.000	T	T	65394439	C	T	65394439	2	4	171	1	0	0	0	0	0	0	0	1	11617	813	29	1		1	PCNXL3	11	65394439	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	1305315	65394439	69612077	132	32453										
LRP5	4041	genome.wustl.edu	37	chr11	68216290	68216290	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ctttcaggccctacatcattCgaggaatggcgcccccgacg	10	15	2	0	rs149645175	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:68216290C>G	ENST00000294304.7	+	23	4706	c.4600C>G	c.(4600-4602)Cga>Gga	p.R1534G	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1534	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTACATCATTCGAGGAATGGC	0.622													C|||	2	0.000399361	0.0015	0	5008	,	,		15356	0		0	False		,,,				2504	0																0			GRCh37	CM053970	LRP5	M	rs149645175	C	GLY/ARG	1,4399	2.1+/-5.4	0,1,2199	63	52	56		4600	2.7	0.8	11	dbSNP_134	56	0,8588		0,0,4294	no	missense	LRP5	NM_002335.2	125	0,1,6493	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	1534/1616	68216290	1,12987	2200	4294	6494	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4600C>G	11.37:g.68216290C>G	ENSP00000294304:p.Arg1534Gly		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R1534G	ENST00000294304.7	37	c.4600	CCDS8181.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.84|10.84	1.464390|1.464390	0.26335|0.26335	2.27E-4|2.27E-4	0.0|0.0	ENSG00000162337|ENSG00000162337	ENST00000529702|ENST00000294304	.|D	.|0.94376	.|-3.41	4.73|4.73	2.74|2.74	0.32292|0.32292	.|.	.|0.000000	.|0.38058	.|U	.|0.001837	D|D	0.95376|0.95376	0.8499|0.8499	M|M	0.72118|0.72118	2.19|2.19	0.49915|0.49915	D|D	0.999833|0.999833	.|D;D	.|0.61080	.|0.989;0.989	.|D;D	.|0.66497	.|0.944;0.944	D|D	0.94768|0.94768	0.7942|0.7942	5|10	.|0.46703	.|T	.|0.11	.|.	13.3404|13.3404	0.60540|0.60540	0.3999:0.6001:0.0:0.0|0.3999:0.6001:0.0:0.0	.|.	.|1534;1534	.|Q9UES7;O75197	.|.;LRP5_HUMAN	L|G	90|1534	.|ENSP00000294304:R1534G	.|ENSP00000294304:R1534G	F|R	+|+	3|1	2|2	LRP5|LRP5	67972866|67972866	1.000000|1.000000	0.71417|0.71417	0.828000|0.828000	0.32881|0.32881	0.002000|0.002000	0.02628|0.02628	3.212000|3.212000	0.51145|0.51145	1.214000|1.214000	0.43395|0.43395	0.555000|0.555000	0.69702|0.69702	TTC|CGA	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.622	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	C	NM_002335		68216290	1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68216290	C	G	68216290	3	3	171	1	0	0	0	0	1	0	0	0	8983	876	31	1	4690	1	LRP5	11	68216290	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	2821851	68216290	66790226	133	32454										
IGHMBP2	3508	genome.wustl.edu	37	chr11	68704029	68704029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agcacctgccagacagggccGgaagaagccggctgggaagt	16	11	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:68704029G>A	ENST00000255078.3	+	13	2192	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	694	SS DNA-binding. {ECO:0000250}.		R -> W (in dbSNP:rs2236654).		ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGACAGGGCCGGAAGAAGCCG	0.672																																																	0													22	27	26					11																	68704029		2200	4292	6492	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2081G>A	11.37:g.68704029G>A	ENSP00000255078:p.Arg694Gln		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.R694Q	ENST00000255078.3	37	c.2081	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	9.984	1.229021	0.22542	.	.	ENSG00000132740	ENST00000255078	D	0.90004	-2.6	3.53	-5.39	0.02664	.	6.158650	0.00520	N	0.000184	D	0.83552	0.5279	L	0.50333	1.59	0.22581	N	0.998966	B	0.14438	0.01	B	0.06405	0.002	T	0.67991	-0.5527	10	0.15066	T	0.55	-34.8022	9.1403	0.36899	0.657:0.1191:0.2239:0.0	.	694	P38935	SMBP2_HUMAN	Q	694	ENSP00000255078:R694Q	ENSP00000255078:R694Q	R	+	2	0	IGHMBP2	68460605	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.336000	0.07863	-1.489000	0.01844	-1.051000	0.02340	CGG	IGHMBP2	-	NULL		0.672	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	G	NM_002180		68704029	1	no_errors	ENST00000255078	ensembl	human	known	70_37	missense	SNP	0.037	A	A	68704029	G	A	68704029	3	1	171	1	0	0	0	0	1	0	0	0	7611	1116	39	2	2131	2	IGHMBP2	11	68704029	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	487739	68704029	66302487	134	32455										
C11orf30	56946	genome.wustl.edu	37	chr11	76207494	76207494	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cctggtattaaacctaccatCcaaatcaaacaggagtcagg	7	11	2	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:76207494C>G	ENST00000529032.1	+	8	1344	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	C11orf30_ENST00000334736.3_Missense_Mutation_p.I448M|C11orf30_ENST00000525038.1_Missense_Mutation_p.I463M|C11orf30_ENST00000533248.1_Missense_Mutation_p.I462M|C11orf30_ENST00000524767.1_Missense_Mutation_p.I463M|C11orf30_ENST00000343878.3_Missense_Mutation_p.I448M|C11orf30_ENST00000524490.1_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.I449M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	448	Gln-rich.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AACCTACCATCCAAATCAAAC	0.428																																																	0													105	103	103					11																	76207494		2200	4292	6492	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1344C>G	11.37:g.76207494C>G	ENSP00000432327:p.Ile448Met		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	pfam_ENT_N,pfscan_ENT_N	p.I448M	ENST00000529032.1	37	c.1344	CCDS8244.1	11	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101776	0.37048	.	.	ENSG00000158636	ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.69	4.72	0.59763	.	0.151158	0.64402	D	0.000020	T	0.53818	0.1820	L	0.29908	0.895	0.47737	D	0.999504	D;D;D;D;D;D;D	0.76494	0.995;0.995;0.995;0.999;0.999;0.998;0.998	D;D;D;D;D;D;D	0.83275	0.986;0.986;0.986;0.996;0.996;0.991;0.991	T	0.55866	-0.8073	9	0.39692	T	0.17	-7.4121	3.4759	0.07585	0.1979:0.5453:0.0:0.2568	.	462;463;463;448;398;449;448	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	M	448;448;398;463;462;449;463;448	.	ENSP00000334130:I448M	I	+	3	3	C11orf30	75885142	0.990000	0.36364	1.000000	0.80357	0.991000	0.79684	0.187000	0.16998	1.231000	0.43661	0.462000	0.41574	ATC	C11orf30	-	NULL		0.428	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	C	NM_020193		76207494	1	no_errors	ENST00000334736	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76207494	C	G	76207494	3	3	171	1	0	0	0	0	1	0	0	0	1640	845	30	1	1374	1	C11orf30	11	76207494	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	7503465	76207494	58799022	135	32456										
ALG8	79053	genome.wustl.edu	37	chr11	77838404	77838404	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aggtgaaaattaaaacttacCtcataataccactgtgatat	5	7	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:77838404C>T	ENST00000299626.5	-	2	245	c.174G>A	c.(172-174)gaG>gaA	p.E58E	ALG8_ENST00000376156.3_Splice_Site_p.E58E|ALG8_ENST00000532552.2_Intron	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	58					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TAAAACTTACCTCATAATACC	0.333																																																	0													71	68	69					11																	77838404		2200	4292	6492	SO:0001630	splice_region_variant	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.174+1G>A	11.37:g.77838404C>T			A6NDW6|O60860	Silent	SNP	pfam_Glyco_trans_ALG6/ALG8	p.E58	ENST00000299626.5	37	c.174	CCDS8258.1	11																																																																																			ALG8	-	pfam_Glyco_trans_ALG6/ALG8		0.333	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	C	NM_024079	Silent	77838404	-1	no_errors	ENST00000299626	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77838404	C	T	77838404	5	4	171	1	0	0	0	0	0	0	1	0	523	695	24	4	1513	4	ALG8	11	77838404	Splice_Site	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	1630910	77838404	57168112	136	32457										
SYTL2	54843	genome.wustl.edu	37	chr11	85435165	85435165	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttctttttcttcctctttctCttgtttcatatatggcgatg	5	9	5	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:85435165C>T	ENST00000528231.1	-	8	1737				SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.E779K|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.E1303K|SYTL2_ENST00000354566.3_Missense_Mutation_p.E779K	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			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)		TCCTCTTTCTCTTGTTTCATA	0.388																																																	0													92	95	94					11																	85435165		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3163G>A	11.37:g.85435165C>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E1303K	ENST00000528231.1	37	c.3907	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025719	0.35701	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.41400	1.4;1.38;1.38;1.0	5.53	3.23	0.37069	.	0.874073	0.10222	N	0.700828	T	0.26048	0.0635	L	0.34521	1.04	0.27660	N	0.947105	B;B;B	0.28850	0.225;0.225;0.225	B;B;B	0.18561	0.022;0.022;0.022	T	0.15065	-1.0450	9	.	.	.	0.0115	3.5218	0.07745	0.0:0.5501:0.2688:0.1811	.	779;779;779	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	K	1303;779;779;198	ENSP00000352065:E1303K;ENSP00000346576:E779K;ENSP00000432694:E779K;ENSP00000435009:E198K	.	E	-	1	0	SYTL2	85112813	0.784000	0.28713	0.983000	0.44433	0.477000	0.33069	0.921000	0.28718	1.428000	0.47296	0.650000	0.86243	GAG	SYTL2	-	NULL		0.388	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	C	NM_206927		85435165	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.853	T	T	85435165	C	T	85435165	1	4	171	0	1	0	0	0	0	0	0	0	15513	922	32	1		1	SYTL2	11	85435165	Intron	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	7596761	85435165	49571351	137	32458										
MTNR1B	4544	genome.wustl.edu	37	chr11	92714917	92714917	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gtggccttgctgcccaacttCtttgtggggtccctggagta	13	11	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:92714917C>A	ENST00000257068.2	+	2	534	c.528C>A	c.(526-528)ttC>ttA	p.F176L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	176					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGCCCAACTTCTTTGTGGGGT	0.617																																																	0													102	101	102					11																	92714917		2201	4298	6499	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.528C>A	11.37:g.92714917C>A	ENSP00000257068:p.Phe176Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.F176L	ENST00000257068.2	37	c.528	CCDS8290.1	11	.	.	.	.	.	.	.	.	.	.	C	6.941	0.543433	0.13250	.	.	ENSG00000134640	ENST00000257068	T	0.33654	1.4	3.97	-0.506	0.11989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	N	0.11284	0.12	0.47905	D	0.999546	B	0.14805	0.011	B	0.26969	0.075	T	0.30765	-0.9967	10	0.02654	T	1	-32.5982	8.1227	0.30980	0.0:0.2649:0.0:0.7351	.	176	P49286	MTR1B_HUMAN	L	176	ENSP00000257068:F176L	ENSP00000257068:F176L	F	+	3	2	MTNR1B	92354565	0.932000	0.31603	0.691000	0.30163	0.666000	0.39218	-0.105000	0.10907	0.025000	0.15241	0.491000	0.48974	TTC	MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn		0.617	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1	C			92714917	1	no_errors	ENST00000257068	ensembl	human	known	70_37	missense	SNP	0.978	A	A	92714917	C	A	92714917	3	1	171	1	0	0	0	0	1	0	0	0	9975	912	32	3	534	3	MTNR1B	11	92714917	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	7279752	92714917	42291599	138	32459										
CCDC153	283152	genome.wustl.edu	37	chr11	119063888	119063888	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cccccgaaggcctttgacttCttcctccagctgcttgctgc	8	17	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:119063888C>T	ENST00000503566.2	-	4	321	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	CCDC153_ENST00000415318.1_Missense_Mutation_p.E108K			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	108										lung(3)|stomach(1)	4						CCTTTGACTTCTTCCTCCAGC	0.617																																																	0													91	88	89					11																	119063888		2199	4295	6494	SO:0001583	missense	283152				CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.322G>A	11.37:g.119063888C>T	ENSP00000423567:p.Glu108Lys			Missense_Mutation	SNP	superfamily_t-SNARE	p.E108K	ENST00000503566.2	37	c.322	CCDS44753.1	11	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471320	0.43942	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.29397	1.57;1.57	4.58	2.56	0.30785	.	0.190642	0.35677	N	0.003046	T	0.26738	0.0654	M	0.63428	1.95	0.28619	N	0.908288	B	0.27932	0.194	B	0.26864	0.074	T	0.14952	-1.0454	10	0.37606	T	0.19	-9.582	6.538	0.22365	0.0:0.5428:0.3599:0.0972	.	108	Q494R4	CC153_HUMAN	K	108	ENSP00000423567:E108K;ENSP00000445431:E108K	ENSP00000445431:E108K	E	-	1	0	CCDC153	118569098	0.566000	0.26618	0.403000	0.26384	0.570000	0.35934	0.830000	0.27462	0.573000	0.29400	0.561000	0.74099	GAA	CCDC153	-	superfamily_t-SNARE		0.617	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC153	HGNC	protein_coding	OTTHUMT00000388331.2	C	NM_001033658		119063888	-1	no_errors	ENST00000415318	ensembl	human	known	70_37	missense	SNP	0.889	T	T	119063888	C	T	119063888	3	4	171	1	0	0	0	0	1	0	0	0	2792	922	32	1	322	1	CCDC153	11	119063888	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	26348971	119063888	15942628	139	32460										
GRIK4	2900	genome.wustl.edu	37	chr11	120702685	120702685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gagatccgggacgacaagacCgccaccatcatcatccacgc	9	16	2	2	rs148308915	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:120702685C>T	ENST00000527524.2	+	7	923	c.636C>T	c.(634-636)acC>acT	p.T212T	GRIK4_ENST00000438375.2_Silent_p.T212T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	212					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ACGACAAGACCGCCACCATCA	0.637																																																	0								C		2,4404	4.2+/-10.8	0,2,2201	130	112	118		636	-9.1	0.4	11	dbSNP_134	118	19,8579	14.0+/-48.4	0,19,4280	no	coding-synonymous	GRIK4	NM_014619.2		0,21,6481	TT,TC,CC		0.221,0.0454,0.1615		212/957	120702685	21,12983	2203	4299	6502	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.636C>T	11.37:g.120702685C>T			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T212	ENST00000527524.2	37	c.636	CCDS8433.1	11																																																																																			GRIK4	-	pfam_ANF_lig-bd_rcpt		0.637	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	C	NM_014619		120702685	1	no_errors	ENST00000527524	ensembl	human	known	70_37	silent	SNP	0.004	T	T	120702685	C	T	120702685	2	4	171	1	0	0	0	0	0	0	0	1	6796	639	23	2		2	GRIK4	11	120702685	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	1638797	120702685	14303831	140	32461										
IGSF9B	22997	genome.wustl.edu	37	chr11	133801384	133801384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	acaggaaaggggtcccctgcGgcagcacaggggataagtag	16	9	0	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:133801384G>A	ENST00000321016.8	-	10	1562	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	IGSF9B_ENST00000533871.2_Silent_p.A444A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	444	Ig-like 5.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTCCCCTGCGGCAGCACAGG	0.662																																																	0													32	38	36					11																	133801384		1877	4101	5978	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1332C>T	11.37:g.133801384G>A			G5EA26	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A444	ENST00000321016.8	37	c.1332		11																																																																																			IGSF9B	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.662	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		G	XM_290502		133801384	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	silent	SNP	0.022	A	A	133801384	G	A	133801384	2	1	171	1	0	0	0	0	0	0	0	1	7626	1103	39	2		2	IGSF9B	11	133801384	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	13098699	133801384	1205132	141	32462										
FBXL14	144699	genome.wustl.edu	37	chr12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcaggtgcagcttggcctccAccccccgccacaccgacttg	10	19	0	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731																																																	0													7	9	8					12																	1703090		2147	4245	6392	SO:0001583	missense	144699			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.143T>G	12.37:g.1703090A>C	ENSP00000344855:p.Val48Gly			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.V48G	ENST00000339235.3	37	c.143	CCDS8509.1	12	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263601	0.59431	.	.	ENSG00000171823	ENST00000339235	T	0.56776	0.44	4.03	4.03	0.46877	F-box domain, cyclin-like (1);	0.155201	0.43260	D	0.000588	T	0.74913	0.3779	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78001	-0.2375	10	0.87932	D	0	.	6.3942	0.21603	0.8088:0.0:0.1912:0.0	.	48	Q8N1E6	FXL14_HUMAN	G	48	ENSP00000344855:V48G	ENSP00000344855:V48G	V	-	2	0	FBXL14	1573351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.648000	0.83479	1.684000	0.51022	0.254000	0.18369	GTG	FBXL14	-	NULL		0.731	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL14	HGNC	protein_coding	OTTHUMT00000206741.1	A	NM_152441		1703090	-1	no_errors	ENST00000339235	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1703090	A	C	1703090	3	2	171	1	0	0	0	0	1	0	0	0	5728	159	6	5	1121	5	FBXL14	12	1703090	Missense_Mutation	SNP	A	TCGA-LP-A5U2-01A-11D-A28B-09		1703090	132148805	142	32463										
CACNA1C	775	genome.wustl.edu	37	chr12	2690805	2690805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	catccttgctgaactctgtgCgctccatcgcctccctgctc	7	18	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:2690805C>T	ENST00000347598.4	+	14	1945	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	CACNA1C_ENST00000327702.7_Missense_Mutation_p.R649C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R649C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R649C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R674C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R649C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R649C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	649					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R649C(3)|p.R184C(1)|p.R679C(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAACTCTGTGCGCTCCATCGC	0.552																																																	5	Substitution - Missense(5)	endometrium(5)											115	118	117					12																	2690805		2202	4298	6500	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1945C>T	12.37:g.2690805C>T	ENSP00000266376:p.Arg649Cys		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R649C	ENST00000347598.4	37	c.1945	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969350	0.92855	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	4.41	4.41	0.53225	Ion transport (1);	0.114674	0.64402	D	0.000009	D	0.98795	0.9594	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;1.0;0.999;1.0;0.998;0.999;1.0;0.999;0.984;0.993;1.0;0.997;0.987;1.0;1.0;1.0;0.999;1.0;1.0;0.999;0.999;0.999	P;P;P;P;D;P;D;D;D;D;P;P;P;D;P;P;D;D;D;P;D;D;P;P;P	0.68943	0.862;0.804;0.893;0.899;0.949;0.804;0.949;0.961;0.921;0.949;0.804;0.828;0.768;0.938;0.851;0.629;0.947;0.949;0.921;0.804;0.949;0.949;0.804;0.83;0.804	D	0.99690	1.1001	10	0.87932	D	0	.	17.5297	0.87810	0.0:1.0:0.0:0.0	.	649;646;649;649;649;649;649;649;649;649;649;620;649;649;649;649;649;649;649;649;649;649;649;649;649	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	674;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;490	ENSP00000336982:R674C;ENSP00000382563:R649C;ENSP00000437936:R649C;ENSP00000382552:R649C;ENSP00000382547:R649C;ENSP00000382506:R649C;ENSP00000382530:R649C;ENSP00000382546:R649C;ENSP00000382500:R649C;ENSP00000382549:R649C;ENSP00000266376:R649C;ENSP00000382515:R649C;ENSP00000382510:R649C;ENSP00000341092:R649C;ENSP00000382537:R649C;ENSP00000329877:R649C;ENSP00000382557:R649C;ENSP00000385724:R649C;ENSP00000382512:R649C;ENSP00000382542:R649C;ENSP00000382526:R649C;ENSP00000385896:R649C;ENSP00000382504:R649C	ENSP00000323129:R490C	R	+	1	0	CACNA1C	2561066	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.552000	0.60747	2.443000	0.82685	0.491000	0.48974	CGC	CACNA1C	-	pfam_Ion_trans_dom		0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2690805	1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2690805	C	T	2690805	3	4	171	1	0	0	0	0	1	0	0	0	2545	768	27	2	2107	2	CACNA1C	12	2690805	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	987715	2690805	131161090	143	32464										
GPRC5A	9052	genome.wustl.edu	37	chr12	13061822	13061822	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aagagacatggggcccacatCtacctcacgatgctcctctc	8	15	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:13061822C>T	ENST00000014914.5	+	2	1529	c.639C>T	c.(637-639)atC>atT	p.I213I	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	213					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGCCCACATCTACCTCACGA	0.567																																																	0													218	192	201					12																	13061822		2203	4300	6503	SO:0001819	synonymous_variant	9052			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"GPCR / Class C : Orphans"	9836	protein-coding gene	gene with protein product		604138	"retinoic acid induced 3", "G protein-coupled receptor, family C, group 5, member A"	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.639C>T	12.37:g.13061822C>T			B3KV45|O95357	Silent	SNP	pfam_GPCR_3_C	p.I213	ENST00000014914.5	37	c.639	CCDS8657.1	12																																																																																			GPRC5A	-	pfam_GPCR_3_C		0.567	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5A	HGNC	protein_coding	OTTHUMT00000400682.1	C			13061822	1	no_errors	ENST00000014914	ensembl	human	known	70_37	silent	SNP	0.984	T	T	13061822	C	T	13061822	2	4	171	1	0	0	0	0	0	0	0	1	6744	903	32	1		1	GPRC5A	12	13061822	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	10371017	13061822	120790073	144	32465										
RAPGEF3	10411	genome.wustl.edu	37	chr12	48134546	48134546	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcggcgcatgaagcgctccaGgttggcggtggtgacatccc	16	12	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:48134546G>T	ENST00000449771.2	-	21	2198	c.2110C>A	c.(2110-2112)Ctg>Atg	p.L704M	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L704M|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L662M|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L662M|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L613M|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.L662M			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	704	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AAGCGCTCCAGGTTGGCGGTG	0.667																																																	0													46	53	50					12																	48134546		2203	4300	6503	SO:0001583	missense	10411			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2110C>A	12.37:g.48134546G>T	ENSP00000395708:p.Leu704Met		A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.L704M	ENST00000449771.2	37	c.2110	CCDS41775.1	12	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685224	0.68157	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	3.82	2.85	0.33270	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000017	T	0.70107	0.3186	H	0.94264	3.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.74200	-0.3742	10	0.87932	D	0	.	9.4839	0.38917	0.1168:0.0:0.8832:0.0	.	704	O95398	RPGF3_HUMAN	M	662;704;351;662;662;662;704;667;613	ENSP00000384521:L662M;ENSP00000395708:L704M;ENSP00000448619:L662M;ENSP00000171000:L662M;ENSP00000373864:L704M;ENSP00000448480:L613M	ENSP00000171000:L662M	L	-	1	2	RAPGEF3	46420813	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.706000	0.54830	0.646000	0.30693	-0.367000	0.07326	CTG	RAPGEF3	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.667	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	G	NM_006105		48134546	-1	no_errors	ENST00000389212	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48134546	G	T	48134546	3	4	171	1	0	0	0	0	1	0	0	0	13075	991	35	4	693	4	RAPGEF3	12	48134546	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	35072724	48134546	85717349	145	32466										
MLL2	8085	genome.wustl.edu	37	chr12	49444286	49444286	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttggggaaccagggaatgctGaaggagtggcgaacactgag	17	6	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:49444286G>A	ENST00000301067.7	-	11	3084	c.3085C>T	c.(3085-3087)Cag>Tag	p.Q1029*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1029	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGGAATGCTGAAGGAGTGGC	0.612																																																	0													71	80	77					12																	49444286		2079	4227	6306	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3085C>T	12.37:g.49444286G>A	ENSP00000301067:p.Gln1029*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1029*	ENST00000301067.7	37	c.3085	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.325545	0.98214	.	.	ENSG00000167548	ENST00000301067	.	.	.	3.98	3.98	0.46160	.	0.266370	0.20054	N	0.100228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4412	0.67318	0.0:0.0:1.0:0.0	.	.	.	.	X	1029	.	ENSP00000301067:Q1029X	Q	-	1	0	MLL2	47730553	0.693000	0.27728	0.995000	0.50966	0.781000	0.44180	3.514000	0.53422	2.165000	0.68154	0.558000	0.71614	CAG	MLL2	-	NULL		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49444286	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	49444286	G	A	49444286	4	1	171	1	0	0	0	0	0	1	0	0	9644	1299	45	1	13704	1	MLL2	12	49444286	Nonsense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	1309740	49444286	84407609	146	32467										
LUM	4060	genome.wustl.edu	37	chr12	91502639	91502639	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gctttcagggcagttacattCtggtgcacagtttggtgatg	13	7	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:91502639C>T	ENST00000266718.4	-	2	572	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	40	Cys-rich.|LRRNT.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAGTTACATTCTGGTGCACAG	0.433																																																	0													109	103	105					12																	91502639		2203	4300	6503	SO:0001583	missense	4060			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.118G>A	12.37:g.91502639C>T	ENSP00000266718:p.Glu40Lys		B2R6R5|Q96QM7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E40K	ENST00000266718.4	37	c.118	CCDS9038.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.242387	0.95272	.	.	ENSG00000139329	ENST00000266718	D	0.96554	-4.05	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.84082	2.675	0.80722	D	1	D	0.59767	0.986	D	0.67103	0.949	D	0.98415	1.0574	10	0.66056	D	0.02	-19.1257	20.1225	0.97967	0.0:1.0:0.0:0.0	.	40	P51884	LUM_HUMAN	K	40	ENSP00000266718:E40K	ENSP00000266718:E40K	E	-	1	0	LUM	90026770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.831000	0.97527	0.650000	0.86243	GAA	LUM	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.433	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUM	HGNC	protein_coding	OTTHUMT00000407150.2	C	NM_002345		91502639	-1	no_errors	ENST00000266718	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91502639	C	T	91502639	3	4	171	1	0	0	0	0	1	0	0	0	9108	922	32	1	906	1	LUM	12	91502639	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	42058353	91502639	42349256	147	32468										
UTP20	27340	genome.wustl.edu	37	chr12	101759307	101759307	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tttacgccgaatcacagtggGattaattgtaaatcaggaaa	9	6	2	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:101759307G>C	ENST00000261637.4	+	46	6203	c.6029G>C	c.(6028-6030)gGa>gCa	p.G2010A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2010					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCACAGTGGGATTAATTGTA	0.368																																																	0													75	74	75					12																	101759307		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6029G>C	12.37:g.101759307G>C	ENSP00000261637:p.Gly2010Ala		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.G2010A	ENST00000261637.4	37	c.6029	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550787	0.65311	.	.	ENSG00000120800	ENST00000261637	T	0.71817	-0.6	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88072	0.2801	10	0.72032	D	0.01	-25.4394	20.3206	0.98668	0.0:0.0:1.0:0.0	.	2010	O75691	UTP20_HUMAN	A	2010	ENSP00000261637:G2010A	ENSP00000261637:G2010A	G	+	2	0	UTP20	100283438	1.000000	0.71417	0.962000	0.40283	0.079000	0.17450	8.591000	0.90824	2.809000	0.96659	0.655000	0.94253	GGA	UTP20	-	superfamily_ARM-type_fold		0.368	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101759307	1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101759307	G	C	101759307	3	2	171	1	0	0	0	0	1	0	0	0	17130	1174	41	1	6211	1	UTP20	12	101759307	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	10256668	101759307	32092588	148	32469										
SSH1	54434	genome.wustl.edu	37	chr12	109198894	109198894	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcccaagataagtagcatctCattgtctataaattccttga	5	9	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:109198894C>G	ENST00000326495.5	-	10	985	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	SSH1_ENST00000326470.5_Missense_Mutation_p.E309Q|SSH1_ENST00000551165.1_Missense_Mutation_p.E298Q|SSH1_ENST00000360239.3_Start_Codon_SNP_p.M1I	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	298					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E298K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTAGCATCTCATTGTCTATA	0.398																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											145	130	135					12																	109198894		2203	4300	6503	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.892G>C	12.37:g.109198894C>G	ENSP00000315713:p.Glu298Gln		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E298Q	ENST00000326495.5	37	c.892	CCDS9121.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.15|16.15	3.042361|3.042361	0.55003|0.55003	.|.	.|.	ENSG00000084112|ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470|ENST00000360239	T;T;T|T	0.60299|0.08720	0.2;0.2;0.2|3.06	5.13|5.13	5.13|5.13	0.70059|0.70059	DEK, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.10035|0.10035	0.0246|0.0246	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;D;B|P	0.55172|0.38504	0.686;0.97;0.097|0.634	B;P;B|B	0.59424|0.34242	0.397;0.857;0.303|0.178	T|T	0.06625|0.06625	-1.0816|-1.0816	10|9	0.32370|0.87932	T|D	0.25|0	-35.1157|-35.1157	18.9648|18.9648	0.92692|0.92692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;298;298|1	Q8WYL5-5;Q8WYL5-2;Q8WYL5|Q8WYL5-4	.;.;SSH1_HUMAN|.	Q|I	298;298;309|1	ENSP00000315713:E298Q;ENSP00000448824:E298Q;ENSP00000326107:E309Q|ENSP00000353374:M1I	ENSP00000326107:E309Q|ENSP00000353374:M1I	E|M	-|-	1|3	0|0	SSH1|SSH1	107723023|107723023	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.964000|0.964000	0.63967|0.63967	7.725000|7.725000	0.84808|0.84808	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GAG|ATG	SSH1	-	pfam_DEK_C		0.398	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	C	NM_018984		109198894	-1	no_errors	ENST00000326495	ensembl	human	known	70_37	missense	SNP	1.000	G	G	109198894	C	G	109198894	3	3	171	1	0	0	0	0	1	0	0	0	15214	835	29	1	2467	1	SSH1	12	109198894	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	7439587	109198894	24653001	149	32470										
CIT	11113	genome.wustl.edu	37	chr12	120263013	120263013	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggttctggcagaggttccctCtgcgaagggggatctcccat	14	11	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:120263013C>T	ENST00000261833.7	-	8	965	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CIT_ENST00000392521.2_Missense_Mutation_p.E305K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGGTTCCCTCTGCGAAGGGG	0.453																																																	0													75	76	76					12																	120263013		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.913G>A	12.37:g.120263013C>T	ENSP00000261833:p.Glu305Lys		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E305K	ENST00000261833.7	37	c.913	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298672	0.60195	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.39787	1.06;1.06	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.213476	0.38837	N	0.001555	T	0.43299	0.1241	L	0.39326	1.205	0.80722	D	1	P;B	0.36086	0.536;0.012	B;B	0.40256	0.324;0.087	T	0.23726	-1.0180	10	0.42905	T	0.14	.	19.8252	0.96614	0.0:1.0:0.0:0.0	.	305;305	Q2M5E1;O14578	.;CTRO_HUMAN	K	305	ENSP00000376306:E305K;ENSP00000261833:E305K	ENSP00000261833:E305K	E	-	1	0	CIT	118747396	1.000000	0.71417	0.964000	0.40570	0.388000	0.30384	7.792000	0.85828	2.692000	0.91855	0.655000	0.94253	GAG	CIT	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_cat_dom		0.453	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	C	NM_007174		120263013	-1	no_errors	ENST00000261833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120263013	C	T	120263013	3	4	171	1	0	0	0	0	1	0	0	0	3443	922	32	1	5330	1	CIT	12	120263013	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	11064119	120263013	13588882	150	32471										
MAB21L1	4081	genome.wustl.edu	37	chr13	36049469	36049469	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gtcttcatatggtaattgttCaagggctggcccggcagttc	12	9	3	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:36049469C>G	ENST00000379919.4	-	1	1363	c.807G>C	c.(805-807)ttG>ttC	p.L269F	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	269					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGTAATTGTTCAAGGGCTGGC	0.542																																																	0													80	80	80					13																	36049469		2203	4300	6503	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.807G>C	13.37:g.36049469C>G	ENSP00000369251:p.Leu269Phe		Q6I9T5	Missense_Mutation	SNP	pfam_Mab-21_dom	p.L269F	ENST00000379919.4	37	c.807	CCDS9353.1	13	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545869	0.27652	.	.	ENSG00000180660	ENST00000379919	T	0.11930	2.73	5.76	-4.0	0.04057	.	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.34521	1.04	0.52501	D	0.999952	P	0.50272	0.933	P	0.62298	0.9	T	0.00668	-1.1618	10	0.34782	T	0.22	-45.8062	26.4153	0.99996	0.0718:0.143:0.7852:0.0	.	269	Q13394	MB211_HUMAN	F	269	ENSP00000369251:L269F	ENSP00000369251:L269F	L	-	3	2	MAB21L1	34947469	0.582000	0.26749	0.792000	0.32020	0.362000	0.29581	-0.447000	0.06828	-1.379000	0.02118	-0.175000	0.13238	TTG	MAB21L1	-	pfam_Mab-21_dom		0.542	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	C	NM_005584		36049469	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	missense	SNP	0.588	G	G	36049469	C	G	36049469	3	3	171	1	0	0	0	0	1	0	0	0	9164	825	29	1	276	1	MAB21L1	13	36049469	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09		36049469	79120409	151	32472										
SLC25A15	10166	genome.wustl.edu	37	chr13	41379374	41379374	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gagatggagacatcagggaaGatagccaagagccagaagta	14	6	1	5			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:41379374G>C	ENST00000338625.4	+	4	671	c.435G>C	c.(433-435)aaG>aaC	p.K145N	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	145					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CATCAGGGAAGATAGCCAAGA	0.507																																																	0													99	91	94					13																	41379374		2203	4300	6503	SO:0001583	missense	10166			AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"Solute carriers"	10985	protein-coding gene	gene with protein product	"ornithine transporter 1"	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.435G>C	13.37:g.41379374G>C	ENSP00000342267:p.Lys145Asn		Q5VZD8|Q9HC45	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.K145N	ENST00000338625.4	37	c.435	CCDS9373.1	13	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404311	0.42613	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	T	0.79653	-1.29	5.62	4.77	0.60923	Mitochondrial carrier domain (2);	0.477631	0.24960	N	0.034232	T	0.79046	0.4380	L	0.55481	1.735	0.80722	D	1	P;B	0.35307	0.494;0.058	B;B	0.40782	0.34;0.088	T	0.75445	-0.3315	10	0.28530	T	0.3	.	13.5365	0.61650	0.0751:0.0:0.9249:0.0	.	85;145	B4DL63;Q9Y619	.;ORNT1_HUMAN	N	145;85	ENSP00000342267:K145N	ENSP00000342267:K145N	K	+	3	2	SLC25A15	40277374	1.000000	0.71417	0.901000	0.35422	0.426000	0.31534	4.073000	0.57570	1.372000	0.46190	0.650000	0.86243	AAG	SLC25A15	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.507	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A15	HGNC	protein_coding	OTTHUMT00000276149.2	G	NM_014252		41379374	1	no_errors	ENST00000338625	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41379374	G	C	41379374	3	2	171	1	0	0	0	0	1	0	0	0	14507	933	33	1	445	1	SLC25A15	13	41379374	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	5329905	41379374	73790504	152	32473										
SLC25A30	253512	genome.wustl.edu	37	chr13	45975286	45975286	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tgcttcttggtgatgtcataGaccggcagctccacaccaac	9	13	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:45975286G>C	ENST00000539591.1	-	6	556	c.393C>G	c.(391-393)gtC>gtG	p.V131V				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	182					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TGATGTCATAGACCGGCAGCT	0.418																																																	0													94	90	91					13																	45975286		2203	4300	6503	SO:0001819	synonymous_variant	253512			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"Solute carriers"	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.393C>G	13.37:g.45975286G>C			B2RN96|B4DZK3|F5H8H8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.V182	ENST00000539591.1	37	c.546		13																																																																																			SLC25A30	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.418	SLC25A30-201	KNOWN	basic	protein_coding	SLC25A30	HGNC	protein_coding		G	XM_170736		45975286	-1	no_errors	ENST00000519676	ensembl	human	known	70_37	silent	SNP	0.999	C	C	45975286	G	C	45975286	2	2	171	1	0	0	0	0	0	0	0	1	14524	929	33	1		1	SLC25A30	13	45975286	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	4595912	45975286	69194592	153	32474										
FNDC3A	22862	genome.wustl.edu	37	chr13	49772229	49772229	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aaataagcgatgatgagataGaaaatccccattattcacct	6	8	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:49772229G>A	ENST00000492622.2	+	22	2907	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	FNDC3A_ENST00000541916.1_Missense_Mutation_p.E868K|FNDC3A_ENST00000398316.3_Missense_Mutation_p.E812K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	868	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGATGAGATAGAAAATCCCCA	0.458																																																	0													141	130	134					13																	49772229		2203	4300	6503	SO:0001583	missense	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2602G>A	13.37:g.49772229G>A	ENSP00000417257:p.Glu868Lys		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E868K	ENST00000492622.2	37	c.2602	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742361	0.30865	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.36157	1.27;1.27;1.27	5.88	5.88	0.94601	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.152123	0.45606	D	0.000342	T	0.27731	0.0682	L	0.32530	0.975	0.51233	D	0.999919	B;B	0.16802	0.007;0.019	B;B	0.29353	0.053;0.101	T	0.06445	-1.0826	10	0.07482	T	0.82	-27.1902	12.5247	0.56079	0.0754:0.0:0.9246:0.0	.	812;868	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	K	868;804;868;812	ENSP00000417257:E868K;ENSP00000441831:E868K;ENSP00000381362:E812K	ENSP00000338579:E804K	E	+	1	0	FNDC3A	48670230	1.000000	0.71417	0.992000	0.48379	0.952000	0.60782	6.708000	0.74660	2.779000	0.95612	0.650000	0.86243	GAA	FNDC3A	-	smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	G	NM_014923		49772229	1	no_errors	ENST00000492622	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49772229	G	A	49772229	3	1	171	1	0	0	0	0	1	0	0	0	5987	943	33	1	2695	1	FNDC3A	13	49772229	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	3796943	49772229	65397649	154	32475										
CLN5	1203	genome.wustl.edu	37	chr13	77574637	77574637	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agtgggtgaaacaggacaatGaaacaggaatttattatgag	12	3	0	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:77574637G>C	ENST00000377453.3	+	4	2049	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	FBXL3_ENST00000477982.1_5'Flank	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	204					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		ACAGGACAATGAAACAGGAAT	0.368																																																	0													48	48	48					13																	77574637		2203	4300	6503	SO:0001583	missense	1203				CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.757G>C	13.37:g.77574637G>C	ENSP00000366673:p.Glu253Gln		B3KQK7	Missense_Mutation	SNP	NULL	p.E253Q	ENST00000377453.3	37	c.757	CCDS9456.1	13	.	.	.	.	.	.	.	.	.	.	g	19.89	3.911622	0.72983	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.89552	-2.53	5.84	5.84	0.93424	.	0.329212	0.36268	N	0.002689	D	0.87672	0.6236	L	0.57536	1.79	0.80722	D	1	P	0.42518	0.782	B	0.37650	0.255	D	0.86037	0.1517	10	0.33141	T	0.24	-27.0266	20.5482	0.99286	0.0:0.0:1.0:0.0	.	204	O75503	CLN5_HUMAN	Q	253;204;119	ENSP00000366673:E253Q	ENSP00000366673:E253Q	E	+	1	0	CLN5	76472638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.597000	0.61062	2.933000	0.99390	0.645000	0.84053	GAA	CLN5	-	NULL		0.368	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN5	HGNC	protein_coding	OTTHUMT00000045318.1	G	NM_006493		77574637	1	no_errors	ENST00000377453	ensembl	human	known	70_37	missense	SNP	1.000	C	C	77574637	G	C	77574637	3	2	171	1	0	0	0	0	1	0	0	0	3549	1291	45	1	771	1	CLN5	13	77574637	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	27802408	77574637	37595241	155	32476										
BIVM	54841	genome.wustl.edu	37	chr13	103460047	103460047	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tacctctcgcatgggaaattGataaatctgaatttgatggg	10	6	2	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:103460047G>C	ENST00000257336.1	+	3	1109	c.430G>C	c.(430-432)Gat>Cat	p.D144H	BIVM-ERCC5_ENST00000602836.1_Nonstop_Mutation_p.*115S|BIVM_ENST00000448849.2_Intron|BIVM_ENST00000419638.1_Missense_Mutation_p.D144H	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	144						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGGGAAATTGATAAATCTGA	0.393																																																	0													35	36	36					13																	103460047		2202	4297	6499	SO:0001583	missense	54841			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.430G>C	13.37:g.103460047G>C	ENSP00000257336:p.Asp144His		Q2M1J2|Q9NXM4	Missense_Mutation	SNP	NULL	p.D144H	ENST00000257336.1	37	c.430	CCDS9505.1	13	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339182	0.81911	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75428	-0.3321	9	0.87932	D	0	.	18.9754	0.92733	0.0:0.0:1.0:0.0	.	115;144	Q59FZ7;Q86UB2	.;BIVM_HUMAN	H	144;144;115	.	ENSP00000257336:D144H	D	+	1	0	ERCC5;BIVM	102258048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.297000	0.78799	2.717000	0.92951	0.643000	0.83706	GAT	BIVM	-	NULL		0.393	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BIVM	HGNC	protein_coding	OTTHUMT00000045704.2	G			103460047	1	no_errors	ENST00000257336	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103460047	G	C	103460047	3	2	171	1	0	0	0	0	1	0	0	0	1442	1290	45	1	432	1	BIVM	13	103460047	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	25885410	103460047	11709831	156	32477										
C13orf16	121793	genome.wustl.edu	37	chr13	111973291	111973291	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cggcacctcctgaagcaattCacaggtatggagggaaggcg	14	10	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:111973291C>T	ENST00000283547.1	+	2	183	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	18						integral component of membrane (GO:0016021)											TGAAGCAATTCACAGGTATGG	0.637																																																	0													49	52	51					13																	111973291		2203	4300	6503	SO:0001819	synonymous_variant	121793			BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 16"	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.54C>T	13.37:g.111973291C>T				Silent	SNP	NULL	p.F18	ENST00000283547.1	37	c.54	CCDS9522.1	13																																																																																			TEX29	-	NULL		0.637	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX29	HGNC	protein_coding	OTTHUMT00000045812.2	C	NM_152324		111973291	1	no_errors	ENST00000283547	ensembl	human	known	70_37	silent	SNP	0.885	T	T	111973291	C	T	111973291	2	4	171	1	0	0	0	0	0	0	0	1	1723	825	29	1		1	C13orf16	13	111973291	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	8513244	111973291	3196587	157	32478										
RNASE8	122665	genome.wustl.edu	37	chr14	21526193	21526193	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agcatgtgcagcccagccctCaagcatgcaactcagccatg	9	15	2	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:21526193C>G	ENST00000308227.2	+	1	213	c.142C>G	c.(142-144)Caa>Gaa	p.Q48E	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	48					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		GCCCAGCCCTCAAGCATGCAA	0.537																																																	0													211	158	176					14																	21526193		2203	4300	6503	SO:0001583	missense	122665			AF473854	CCDS9567.1	14q11.1	2003-03-13			ENSG00000173431	ENSG00000173431		"Ribonucleases, RNase A"	19277	protein-coding gene	gene with protein product		612485				11861908	Standard	NM_138331		Approved		uc010tlm.2	Q8TDE3	OTTHUMG00000029645	ENST00000308227.2:c.142C>G	14.37:g.21526193C>G	ENSP00000311398:p.Gln48Glu		B2RPP6|B2RPP7	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.Q48E	ENST00000308227.2	37	c.142	CCDS9567.1	14	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298998	0.01364	.	.	ENSG00000173431	ENST00000308227	T	0.72835	-0.69	4.63	1.62	0.23740	Ribonuclease A, domain (4);	1.070420	0.07234	N	0.863046	T	0.62720	0.2451	L	0.52905	1.665	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.44711	-0.9310	10	0.02654	T	1	-0.6449	12.4557	0.55702	0.0:0.4981:0.5019:0.0	.	48	Q8TDE3	RNAS8_HUMAN	E	48	ENSP00000311398:Q48E	ENSP00000311398:Q48E	Q	+	1	0	RNASE8	20596033	0.000000	0.05858	0.003000	0.11579	0.156000	0.22039	0.053000	0.14184	0.221000	0.20879	-0.122000	0.15005	CAA	RNASE8	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain		0.537	RNASE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE8	HGNC	protein_coding	OTTHUMT00000073925.3	C	NM_138331		21526193	1	no_errors	ENST00000308227	ensembl	human	known	70_37	missense	SNP	0.001	G	G	21526193	C	G	21526193	3	3	171	1	0	0	0	0	1	0	0	0	13439	827	29	1	144	1	RNASE8	14	21526193	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09		21526193	85823347	158	32479										
FBXO33	254170	genome.wustl.edu	37	chr14	39870958	39870958	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tggtgttggcaacagcattaGagagagatgacagtgatgtt	14	4	0	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:39870958G>C	ENST00000298097.7	-	3	1155	c.818C>G	c.(817-819)tCt>tGt	p.S273C	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	273					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		AACAGCATTAGAGAGAGATGA	0.428																																																	0													84	83	83					14																	39870958		2203	4300	6503	SO:0001583	missense	254170			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.818C>G	14.37:g.39870958G>C	ENSP00000298097:p.Ser273Cys		Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S273C	ENST00000298097.7	37	c.818	CCDS9677.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184551	0.78677	.	.	ENSG00000165355	ENST00000298097	T	0.00995	5.46	5.91	5.91	0.95273	.	0.119220	0.64402	D	0.000015	T	0.01695	0.0054	L	0.32530	0.975	0.80722	D	1	P	0.50710	0.938	P	0.45946	0.498	T	0.77148	-0.2694	9	.	.	.	1.1916	20.2983	0.98569	0.0:0.0:1.0:0.0	.	273	Q7Z6M2	FBX33_HUMAN	C	273	ENSP00000298097:S273C	.	S	-	2	0	FBXO33	38940709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.292000	0.96076	2.802000	0.96397	0.655000	0.94253	TCT	FBXO33	-	NULL		0.428	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO33	HGNC	protein_coding	OTTHUMT00000276769.2	G			39870958	-1	no_errors	ENST00000298097	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39870958	G	C	39870958	3	2	171	1	0	0	0	0	1	0	0	0	5761	942	33	1	857	1	FBXO33	14	39870958	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	18344765	39870958	67478582	159	32480										
SOS2	6655	genome.wustl.edu	37	chr14	50605348	50605348	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	accctcatatctggttctatCcgtaaacagtaaggctgatt	7	10	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:50605348C>G	ENST00000216373.5	-	18	3214	c.2940G>C	c.(2938-2940)cgG>cgC	p.R980R	SOS2_ENST00000543680.1_Silent_p.R947R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	980	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTGGTTCTATCCGTAAACAGT	0.318																																																	0													92	92	92					14																	50605348		2201	4299	6500	SO:0001819	synonymous_variant	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2940G>C	14.37:g.50605348C>G			B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R980	ENST00000216373.5	37	c.2940	CCDS9697.1	14																																																																																			SOS2	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.318	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	C			50605348	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	silent	SNP	0.999	G	G	50605348	C	G	50605348	2	3	171	1	0	0	0	0	0	0	0	1	14967	842	30	1		1	SOS2	14	50605348	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	10734390	50605348	56744192	160	32481										
ZFYVE26	23503	genome.wustl.edu	37	chr14	68215191	68215191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gccatgggcaccccgggggtGgcttgtcagaagccactggg	17	12	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:68215191G>A	ENST00000347230.4	-	42	7720	c.7582C>T	c.(7582-7584)Cac>Tac	p.H2528Y	RN7SL213P_ENST00000463482.2_RNA|U3_ENST00000516983.1_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2528					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCCCGGGGGTGGCTTGTCAGA	0.652																																																	0													50	50	50					14																	68215191		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7582C>T	14.37:g.68215191G>A	ENSP00000251119:p.His2528Tyr		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.H2528Y	ENST00000347230.4	37	c.7582	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617258	0.66672	.	.	ENSG00000072121	ENST00000347230;ENST00000411699	T	0.25912	1.77	5.66	5.66	0.87406	.	0.584640	0.18125	N	0.150914	T	0.20495	0.0493	N	0.19112	0.55	0.80722	D	1	B	0.31730	0.337	B	0.25759	0.063	T	0.05801	-1.0863	10	0.52906	T	0.07	-4.6232	20.0989	0.97860	0.0:0.0:1.0:0.0	.	2528	Q68DK2	ZFY26_HUMAN	Y	2528;2507	ENSP00000251119:H2528Y	ENSP00000251119:H2528Y	H	-	1	0	ZFYVE26	67284944	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	8.463000	0.90377	2.830000	0.97506	0.655000	0.94253	CAC	ZFYVE26	-	NULL		0.652	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68215191	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	missense	SNP	0.996	A	A	68215191	G	A	68215191	3	1	171	1	0	0	0	0	1	0	0	0	17698	1348	47	4	41	4	ZFYVE26	14	68215191	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	17609843	68215191	39134349	161	32482										
MAP3K9	4293	genome.wustl.edu	37	chr14	71267556	71267556	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcaaactccatgaccaagcaGaggttgggctccttcagaca	10	12	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:71267556G>C	ENST00000554752.2	-	2	647	c.648C>G	c.(646-648)ctC>ctG	p.L216L	MAP3K9_ENST00000555993.2_Silent_p.L216L|MAP3K9_ENST00000381250.4_Silent_p.L216L	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			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)		TGACCAAGCAGAGGTTGGGCT	0.512																																					GBM(114;411 1587 13539 28235 50070)												0													111	98	102					14																	71267556		2203	4300	6503	SO:0001819	synonymous_variant	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.648C>G	14.37:g.71267556G>C			A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.L216	ENST00000554752.2	37	c.648		14																																																																																			MAP3K9	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.512	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	G			71267556	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	silent	SNP	1.000	C	C	71267556	G	C	71267556	2	2	171	1	0	0	0	0	0	0	0	1	9280	929	33	1		1	MAP3K9	14	71267556	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	3052365	71267556	36081984	162	32483										
STON2	85439	genome.wustl.edu	37	chr14	81862321	81862321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gaacccagttgctgatggccGaggccaggtcaggtgggggc	18	10	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:81862321G>A	ENST00000267540.2	-	2	490	c.290C>T	c.(289-291)tCg>tTg	p.S97L	STON2_ENST00000555447.1_Missense_Mutation_p.S97L	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	97					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GCTGATGGCCGAGGCCAGGTC	0.587																																																	0													89	92	91					14																	81862321		2203	4300	6503	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.290C>T	14.37:g.81862321G>A	ENSP00000267540:p.Ser97Leu		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S97L	ENST00000267540.2	37	c.290	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119143	0.56505	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55234	0.53;0.53	5.82	3.95	0.45737	Stonin-2, N-terminal (1);	0.316995	0.27535	N	0.018927	T	0.45155	0.1328	L	0.59436	1.845	0.30371	N	0.782853	P;B;B	0.34757	0.467;0.291;0.412	B;B;B	0.30782	0.12;0.089;0.073	T	0.49428	-0.8941	10	0.45353	T	0.12	-3.6678	9.6223	0.39730	0.1704:0.0:0.8296:0.0	.	97;97;97	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	L	97;109;97	ENSP00000450857:S97L;ENSP00000267540:S97L	ENSP00000267540:S97L	S	-	2	0	STON2	80932074	0.964000	0.33143	0.640000	0.29408	0.910000	0.53928	1.596000	0.36718	0.753000	0.32945	0.655000	0.94253	TCG	STON2	-	pfam_Stonin2_N,pirsf_Stonin		0.587	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	G	NM_033104		81862321	-1	no_errors	ENST00000267540	ensembl	human	known	70_37	missense	SNP	0.893	A	A	81862321	G	A	81862321	3	1	171	1	0	0	0	0	1	0	0	0	15348	1059	37	1	2441	1	STON2	14	81862321	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	10594765	81862321	25487219	163	32484										
CCDC33	1583	genome.wustl.edu	37	chr15	74627326	74627326	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gtgtctgcagttagaggactCagctcgacgctggggacgag	16	9	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr15:74627326C>T	ENST00000268053.6	-	0	1934				CCDC33_ENST00000268082.4_Missense_Mutation_p.S306L|CCDC33_ENST00000558821.1_Missense_Mutation_p.S272L|CCDC33_ENST00000321288.5_Missense_Mutation_p.S916L|CCDC33_ENST00000398814.3_Missense_Mutation_p.S679L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TTAGAGGACTCAGCTCGACGC	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													83	87	86					15																	74627326		2036	4178	6214	SO:0001628	intergenic_variant	80125			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74627326C>T			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S916L	ENST00000268053.6	37	c.2747	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698531	0.88830	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.27557	1.69;1.95;1.66;1.66	4.92	4.92	0.64577	.	0.183945	0.37304	N	0.002146	T	0.59115	0.2170	M	0.79805	2.47	0.48632	D	0.999685	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.991;0.996	T	0.65475	-0.6159	10	0.72032	D	0.01	.	16.8924	0.86091	0.0:1.0:0.0:0.0	.	272;306;916;679	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	L	916;679;272;306	ENSP00000325012:S916L;ENSP00000381795:S679L;ENSP00000325661:S272L;ENSP00000268082:S306L	ENSP00000268082:S306L	S	+	2	0	CCDC33	72414379	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	3.072000	0.50049	2.274000	0.75844	0.478000	0.44815	TCA	CCDC33	-	NULL		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000319737.1	C			74627326	1	no_errors	ENST00000321288	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74627326	C	T	74627326	1	4	171	0	1	0	0	0	0	0	0	0	2811	838	29	1		1	CCDC33	15	74627326	IGR	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09		74627326	27904066	164	32485										
MEX3B	84206	genome.wustl.edu	37	chr15	82337845	82337845	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	actgggtactggcacgcactCggtcatgttcacgctcttct	10	13	4	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr15:82337845C>G	ENST00000329713.4	-	1	637	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_Missense_Mutation_p.E68Q	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	68	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GGCACGCACTCGGTCATGTTC	0.657																																																	0													57	34	42					15																	82337845		2202	4300	6502	SO:0001583	missense	84206			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.202G>C	15.37:g.82337845C>G	ENSP00000329918:p.Glu68Gln		Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.E68Q	ENST00000329713.4	37	c.202	CCDS10319.1	15	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963543	0.74016	.	.	ENSG00000183496	ENST00000329713	T	0.30981	1.51	3.79	3.79	0.43588	K Homology (1);K Homology, type 1, subgroup (1);	0.071844	0.53938	D	0.000053	T	0.45518	0.1346	L	0.43152	1.355	0.58432	D	0.999998	D	0.65815	0.995	D	0.65874	0.939	T	0.49418	-0.8942	10	0.87932	D	0	-20.0447	14.7938	0.69863	0.0:1.0:0.0:0.0	.	68	Q6ZN04	MEX3B_HUMAN	Q	68	ENSP00000329918:E68Q	ENSP00000329918:E68Q	E	-	1	0	MEX3B	80124900	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.415000	0.66411	1.945000	0.56424	0.305000	0.20034	GAG	MEX3B	-	pfam_KH_dom_type_1,smart_KH_dom		0.657	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	HGNC	protein_coding	OTTHUMT00000304000.1	C	XM_290645		82337845	-1	no_errors	ENST00000329713	ensembl	human	known	70_37	missense	SNP	1.000	G	G	82337845	C	G	82337845	3	3	171	1	0	0	0	0	1	0	0	0	9533	893	31	1	1515	1	MEX3B	15	82337845	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	7710519	82337845	20193547	165	32486										
LRRK1	79705	genome.wustl.edu	37	chr15	101606067	101606067	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cggccaacccaaaggtgcctGagggggactccatcgcggac	14	14	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr15:101606067G>C	ENST00000388948.3	+	32	5784	c.5425G>C	c.(5425-5427)Gag>Cag	p.E1809Q	LRRK1_ENST00000284395.5_Missense_Mutation_p.E1806Q|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAAGGTGCCTGAGGGGGACTC	0.632																																																	0													46	53	51					15																	101606067		2041	4188	6229	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5425G>C	15.37:g.101606067G>C	ENSP00000373600:p.Glu1809Gln			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.E1809Q	ENST00000388948.3	37	c.5425	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	7.365	0.625703	0.14257	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.74209	-0.79;-0.82	5.7	0.657	0.17850	.	0.848816	0.11096	N	0.600275	T	0.54886	0.1886	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.36553	-0.9743	10	0.30854	T	0.27	.	5.4199	0.16394	0.3302:0.0:0.5474:0.1224	.	1809	Q38SD2	LRRK1_HUMAN	Q	1809;1806;500;363	ENSP00000373600:E1809Q;ENSP00000284395:E1806Q	ENSP00000284395:E1806Q	E	+	1	0	LRRK1	99423590	0.944000	0.32072	0.000000	0.03702	0.172000	0.22775	1.442000	0.35046	-0.119000	0.11830	0.655000	0.94253	GAG	LRRK1	-	NULL		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	G	NM_024652		101606067	1	no_errors	ENST00000388948	ensembl	human	known	70_37	missense	SNP	0.000	C	C	101606067	G	C	101606067	3	2	171	1	0	0	0	0	1	0	0	0	9055	1291	45	1	5547	1	LRRK1	15	101606067	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	19268222	101606067	925325	166	32487										
GNPTG	84572	genome.wustl.edu	37	chr16	1412897	1412897	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cagcacggcatcccctacacGaggcccacaggtgagtcacc	10	17	1	1	rs377647926		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:1412897G>T	ENST00000204679.4	+	10	856	c.813G>T	c.(811-813)acG>acT	p.T271T	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	271					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				TCCCCTACACGAGGCCCACAG	0.557																																																	0													72	80	77					16																	1412897		2199	4300	6499	SO:0001819	synonymous_variant	84572			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.813G>T	16.37:g.1412897G>T			B2R556|Q6XYD7|Q96L13	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.T271	ENST00000204679.4	37	c.813	CCDS10436.1	16																																																																																			GNPTG	-	NULL		0.557	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTG	HGNC	protein_coding	OTTHUMT00000109058.2	G	NM_032520		1412897	1	no_errors	ENST00000204679	ensembl	human	known	70_37	silent	SNP	0.000	T	T	1412897	G	T	1412897	2	4	171	1	0	0	0	0	0	0	0	1	6565	1045	37	3		3	GNPTG	16	1412897	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		1412897	88941856	167	32488										
TBC1D24	57465	genome.wustl.edu	37	chr16	2546389	2546389	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tacagcgacatcgtgggcaaGatcgtgggcaagcacagcag	14	10	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:2546389G>C	ENST00000293970.5	+	2	373	c.240G>C	c.(238-240)aaG>aaC	p.K80N	TBC1D24_ENST00000567020.1_Missense_Mutation_p.K80N|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.K80N|TBC1D24_ENST00000434757.2_Missense_Mutation_p.K80N	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	80	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCGTGGGCAAGATCGTGGGCA	0.677																																																	0													48	56	53					16																	2546389		2165	4266	6431	SO:0001583	missense	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.240G>C	16.37:g.2546389G>C	ENSP00000293970:p.Lys80Asn		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.K80N	ENST00000293970.5	37	c.240	CCDS55980.1	16	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273040	0.40194	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.23754	1.89;1.89	5.6	4.65	0.58169	Rab-GAP/TBC domain (1);	0.092974	0.64402	D	0.000001	T	0.20740	0.0499	N	0.25890	0.77	0.46113	D	0.998875	B;B;B	0.24618	0.107;0.107;0.088	B;B;B	0.31390	0.129;0.129;0.079	T	0.04678	-1.0934	10	0.29301	T	0.29	-40.8254	13.1941	0.59728	0.0775:0.0:0.9225:0.0	.	80;80;80	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	N	80	ENSP00000293970:K80N;ENSP00000390106:K80N	ENSP00000293970:K80N	K	+	3	2	TBC1D24	2486390	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.839000	0.48207	1.378000	0.46305	0.549000	0.68633	AAG	TBC1D24	-	smart_Rab-GTPase-TBC_dom		0.677	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1	G	NM_020705		2546389	1	no_errors	ENST00000293970	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2546389	G	C	2546389	3	2	171	1	0	0	0	0	1	0	0	0	15644	933	33	1	242	1	TBC1D24	16	2546389	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	1133492	2546389	87808364	168	32489										
TRAP1	10131	genome.wustl.edu	37	chr16	3708835	3708835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	caggccaggctcgcttgcgcGcagctgattcagcttcttga	12	13	2	2	rs139636268		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:3708835G>A	ENST00000246957.5	-	17	2060	c.1972C>T	c.(1972-1974)Cgc>Tgc	p.R658C	DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000575671.1_Missense_Mutation_p.R449C|TRAP1_ENST00000538171.1_Missense_Mutation_p.R605C	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	658					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCGCTTGCGCGCAGCTGATTC	0.597																																																	0								G	CYS/ARG	1,4393	2.1+/-5.4	0,1,2196	38	37	37		1972	2	0	16	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAP1	NM_016292.2	180	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	probably-damaging	658/705	3708835	2,12992	2197	4300	6497	SO:0001583	missense	10131			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1972C>T	16.37:g.3708835G>A	ENSP00000246957:p.Arg658Cys		B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.R658C	ENST00000246957.5	37	c.1972	CCDS10508.1	16	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559656	0.27827	2.28E-4	1.16E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.43688	0.94;0.94	5.61	2.0	0.26442	.	0.164028	0.53938	D	0.000047	T	0.41351	0.1155	L	0.49126	1.545	0.51233	D	0.999916	P;P	0.40376	0.667;0.715	B;B	0.42851	0.173;0.4	T	0.34204	-0.9838	10	0.72032	D	0.01	-20.7331	12.8397	0.57794	0.0:0.0:0.4103:0.5897	.	605;658	F5H897;Q12931	.;TRAP1_HUMAN	C	658;605	ENSP00000246957:R658C;ENSP00000442070:R605C	ENSP00000246957:R658C	R	-	1	0	TRAP1	3648836	0.991000	0.36638	0.036000	0.18154	0.001000	0.01503	0.921000	0.28718	0.059000	0.16252	-0.271000	0.10264	CGC	TRAP1	-	pfam_Hsp90,pirsf_Hsp90		0.597	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAP1	HGNC	protein_coding	OTTHUMT00000251586.2	G	NM_016292		3708835	-1	no_errors	ENST00000246957	ensembl	human	known	70_37	missense	SNP	0.999	A	A	3708835	G	A	3708835	3	1	171	1	0	0	0	0	1	0	0	0	16486	1087	38	2	150	2	TRAP1	16	3708835	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	1162446	3708835	86645918	169	32490										
SNN	8303	genome.wustl.edu	37	chr16	11770038	11770038	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tacctgcggctgcagcgcatCagccagtcagaggacgagga	14	12	2	1	rs376162683		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:11770038C>T	ENST00000329565.5	+	2	335	c.123C>T	c.(121-123)atC>atT	p.I41I	TXNDC11_ENST00000570917.1_5'Flank	NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	41					response to abiotic stimulus (GO:0009628)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				endometrium(1)	1						TGCAGCGCATCAGCCAGTCAG	0.637																																																	0								C		1,4393	2.1+/-5.4	0,1,2196	93	63	73		123	4.5	1	16		73	0,8600		0,0,4300	no	coding-synonymous	SNN	NM_003498.5		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		41/89	11770038	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	8303			AF030196	CCDS10549.1	16p13	2008-02-05			ENSG00000184602	ENSG00000184602			11149	protein-coding gene	gene with protein product		603032				9657854	Standard	NM_003498		Approved		uc002dbf.3	O75324	OTTHUMG00000090535	ENST00000329565.5:c.123C>T	16.37:g.11770038C>T			D3DUG4|Q6FGI0	Silent	SNP	pfam_SNN_transmemb,pfam_SNN_linker,pfam_SNN_cytoplasm	p.I41	ENST00000329565.5	37	c.123	CCDS10549.1	16																																																																																			SNN	-	pfam_SNN_linker		0.637	SNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNN	HGNC	protein_coding	OTTHUMT00000207059.1	C	NM_003498		11770038	1	no_errors	ENST00000329565	ensembl	human	known	70_37	silent	SNP	1.000	T	T	11770038	C	T	11770038	2	4	171	1	0	0	0	0	0	0	0	1	14879	816	29	1		1	SNN	16	11770038	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	8061203	11770038	78584715	170	32491										
CES2	51647	genome.wustl.edu	37	chr16	66969530	66969530	+	5'Flank	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggcagcgaaccgagaccagcGagccgaccatgcggctgcac	14	15	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:66969530G>C	ENST00000422424.2	-	0	0				CES2_ENST00000317091.4_Missense_Mutation_p.E62Q|CES2_ENST00000417689.1_Missense_Mutation_p.E62Q	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CGAGACCAGCGAGCCGACCAT	0.677																																																	0													56	64	62					16																	66969530		2200	4297	6497	SO:0001631	upstream_gene_variant	8824				CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408		16.37:g.66969530G>C	Exception_encountered			Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.E62Q	ENST00000422424.2	37	c.184	CCDS45506.1	16	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641118	0.67244	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.66280	-0.19;-0.2	4.14	-0.336	0.12658	.	.	.	.	.	T	0.36552	0.0971	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.17433	0.018	T	0.25433	-1.0132	9	0.72032	D	0.01	.	4.9707	0.14113	0.2034:0.3715:0.425:0.0	.	62	A8K367	.	Q	62	ENSP00000394452:E62Q;ENSP00000317842:E62Q	ENSP00000317842:E62Q	E	+	1	0	CES2	65527031	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.569000	0.05902	-0.008000	0.14320	0.609000	0.83330	GAG	CES2	-	NULL		0.677	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	CES2	HGNC	protein_coding	OTTHUMT00000429890.1	G	NM_016062		66969530	1	no_errors	ENST00000317091	ensembl	human	known	70_37	missense	SNP	0.000	C	C	66969530	G	C	66969530	1	2	171	0	1	0	0	0	0	0	0	0	3275	1059	37	1		1	CES2	16	66969530	5'Flank	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	55199492	66969530	23385223	171	32492										
LCAT	3931	genome.wustl.edu	37	chr16	67974031	67974031	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cgccaccgtgtcatcaccatCctcatagagcacacccacag	6	18	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:67974031C>G	ENST00000264005.5	-	6	1128	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	367					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		TCATCACCATCCTCATAGAGC	0.647																																																	0													112	117	115					16																	67974031		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.1099G>C	16.37:g.67974031C>G	ENSP00000264005:p.Asp367His		Q53XQ3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.D367H	ENST00000264005.5	37	c.1099	CCDS10854.1	16	.	.	.	.	.	.	.	.	.	.	C	18.96	3.732925	0.69189	.	.	ENSG00000213398	ENST00000264005	D	0.96265	-3.96	5.73	5.73	0.89815	.	0.179052	0.38326	U	0.001734	D	0.98735	0.9575	H	0.95539	3.685	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	D	0.99593	1.0976	10	0.87932	D	0	-1.4232	17.4094	0.87481	0.0:1.0:0.0:0.0	.	367	P04180	LCAT_HUMAN	H	367	ENSP00000264005:D367H	ENSP00000264005:D367H	D	-	1	0	LCAT	66531532	1.000000	0.71417	0.979000	0.43373	0.230000	0.25150	5.981000	0.70524	2.699000	0.92147	0.637000	0.83480	GAT	LCAT	-	pfam_LACT/PDAT_acylTrfase		0.647	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	C			67974031	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	missense	SNP	0.997	G	G	67974031	C	G	67974031	3	3	171	1	0	0	0	0	1	0	0	0	8678	855	30	1	227	1	LCAT	16	67974031	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	1004501	67974031	22380722	172	32493										
TMCO7	79613	genome.wustl.edu	37	chr16	69117451	69117451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	acgtagtgtgtctggagcccGatgacgtggccaagctccat	13	11	1	1	rs369656531		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:69117451G>A	ENST00000261778.1	+	18	3184	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N	TANGO6_ENST00000561931.1_3'UTR	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	1058						integral component of membrane (GO:0016021)											TCTGGAGCCCGATGACGTGGC	0.547																																																	0								G	ASN/ASP	0,4116		0,0,2058	55	60	58		3172	5.7	1	16		58	1,8405		0,1,4202	no	missense	TMCO7	NM_024562.1	23	0,1,6260	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	1058/1095	69117451	1,12521	2058	4203	6261	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.3172G>A	16.37:g.69117451G>A	ENSP00000261778:p.Asp1058Asn		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.D1058N	ENST00000261778.1	37	c.3172	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.693941	0.96793	0.0	1.19E-4	ENSG00000103047	ENST00000261778	T	0.67345	-0.26	5.74	5.74	0.90152	Domain of unknown function DUF2411 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81777	-0.0777	10	0.66056	D	0.02	-17.9183	19.8931	0.96937	0.0:0.0:1.0:0.0	.	1058	Q9C0B7	TMCO7_HUMAN	N	1058	ENSP00000261778:D1058N	ENSP00000261778:D1058N	D	+	1	0	TMCO7	67674952	1.000000	0.71417	0.990000	0.47175	0.890000	0.51754	8.725000	0.91468	2.873000	0.98535	0.563000	0.77884	GAT	TMCO7	-	pfam_DUF2411,superfamily_ARM-type_fold		0.547	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	G	XM_928235.2		69117451	1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69117451	G	A	69117451	3	1	171	1	0	0	0	0	1	0	0	0	16031	1058	37	1	3242	1	TMCO7	16	69117451	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	1143420	69117451	21237302	173	32494										
MBTPS1	8720	genome.wustl.edu	37	chr16	84132749	84132749	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agtgttagcagccccgctttCtgtttttcttttatctgaat	7	9	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:84132749C>G	ENST00000343411.3	-	3	825	c.330G>C	c.(328-330)caG>caC	p.Q110H		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	110					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCCCGCTTTCTGTTTTTCTT	0.418																																																	0													187	175	179					16																	84132749		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.330G>C	16.37:g.84132749C>G	ENSP00000344223:p.Gln110His		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.Q110H	ENST00000343411.3	37	c.330	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116712	0.37339	.	.	ENSG00000140943	ENST00000343411	T	0.49139	0.79	5.61	5.61	0.85477	.	0.157749	0.64402	D	0.000016	T	0.42154	0.1190	L	0.33485	1.01	0.41468	D	0.988089	B	0.06786	0.001	B	0.06405	0.002	T	0.17592	-1.0364	10	0.44086	T	0.13	-20.2688	19.6277	0.95684	0.0:1.0:0.0:0.0	.	110	Q14703	MBTP1_HUMAN	H	110	ENSP00000344223:Q110H	ENSP00000344223:Q110H	Q	-	3	2	MBTPS1	82690250	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.019000	0.30014	2.648000	0.89879	0.650000	0.86243	CAG	MBTPS1	-	NULL		0.418	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84132749	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	missense	SNP	1.000	G	G	84132749	C	G	84132749	3	3	171	1	0	0	0	0	1	0	0	0	9384	912	32	1	2912	1	MBTPS1	16	84132749	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	15015298	84132749	6222004	174	32495										
MBTPS1	8720	genome.wustl.edu	37	chr16	84132775	84132775	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttcttttatctgaatcacctCaaaatcactagggtagtcac	5	10	6	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:84132775C>G	ENST00000343411.3	-	3	799	c.304G>C	c.(304-306)Gag>Cag	p.E102Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	102					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGAATCACCTCAAAATCACTA	0.408																																																	0													182	170	174					16																	84132775		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.304G>C	16.37:g.84132775C>G	ENSP00000344223:p.Glu102Gln		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.E102Q	ENST00000343411.3	37	c.304	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346639	0.61073	.	.	ENSG00000140943	ENST00000343411	T	0.42513	0.97	5.61	4.66	0.58398	.	0.043578	0.85682	D	0.000000	T	0.44787	0.1310	L	0.54323	1.7	0.58432	D	0.999994	P	0.49961	0.93	P	0.45428	0.48	T	0.49244	-0.8960	10	0.66056	D	0.02	-34.0876	14.5039	0.67741	0.0:0.9293:0.0:0.0707	.	102	Q14703	MBTP1_HUMAN	Q	102	ENSP00000344223:E102Q	ENSP00000344223:E102Q	E	-	1	0	MBTPS1	82690276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.412000	0.80091	1.376000	0.46267	0.650000	0.86243	GAG	MBTPS1	-	NULL		0.408	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84132775	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	missense	SNP	1.000	G	G	84132775	C	G	84132775	3	3	171	1	0	0	0	0	1	0	0	0	9384	835	29	1	2938	1	MBTPS1	16	84132775	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	26	84132775	6221978	175	32496										
TP53	7157	genome.wustl.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	12	8	0	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	GRCh37	CM034930	TP53	M							132	103	113					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C238F	ENST00000269305.4	37	c.713	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577568	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7577568	C	A	7577568	3	1	171	1	0	0	0	0	1	0	0	0	16412	478	17	4	577	4	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09		7577568	73617642	176	32497										
ALOX15B	247	genome.wustl.edu	37	chr17	7942715	7942715	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcccctcaggaggaggacttCcaggtgacgctcccggagga	14	13	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:7942715C>T	ENST00000380183.4	+	2	298	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ALOX15B_ENST00000572022.1_Silent_p.F53F|ALOX15B_ENST00000380173.2_Silent_p.F53F|ALOX15B_ENST00000573359.1_Silent_p.F53F	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	53	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						AGGAGGACTTCCAGGTGACGC	0.697																																																	0													25	25	25					17																	7942715		2203	4300	6503	SO:0001819	synonymous_variant	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.159C>T	17.37:g.7942715C>T			D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.F53	ENST00000380183.4	37	c.159	CCDS11128.1	17																																																																																			ALOX15B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.697	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	C			7942715	1	no_errors	ENST00000380183	ensembl	human	known	70_37	silent	SNP	0.964	T	T	7942715	C	T	7942715	2	4	171	1	0	0	0	0	0	0	0	1	539	854	30	1		1	ALOX15B	17	7942715	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	365147	7942715	73252495	177	32498										
CCDC42	146849	genome.wustl.edu	37	chr17	8638461	8638461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cagtgccacctcagtcacctCcttcaggtgcttgctcacga	8	16	4	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:8638461C>T	ENST00000293845.3	-	6	1052	c.826G>A	c.(826-828)Gag>Aag	p.E276K	CCDC42_ENST00000539522.2_Missense_Mutation_p.E202K	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	276										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TCAGTCACCTCCTTCAGGTGC	0.622																																																	0													118	97	104					17																	8638461		2203	4300	6503	SO:0001583	missense	146849			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.826G>A	17.37:g.8638461C>T	ENSP00000293845:p.Glu276Lys		Q8N6Q0	Missense_Mutation	SNP	NULL	p.E276K	ENST00000293845.3	37	c.826	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445320	0.43429	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24151	1.92;1.87	5.11	5.11	0.69529	.	0.322845	0.26738	N	0.022751	T	0.18509	0.0444	L	0.36672	1.1	0.27170	N	0.96094	B	0.24483	0.104	B	0.25140	0.058	T	0.18935	-1.0321	10	0.06099	T	0.92	-27.9384	13.2232	0.59901	0.0:0.8398:0.1602:0.0	.	276	Q96M95	CCD42_HUMAN	K	276;202	ENSP00000293845:E276K;ENSP00000444359:E202K	ENSP00000293845:E276K	E	-	1	0	CCDC42	8579186	0.596000	0.26866	0.997000	0.53966	0.483000	0.33249	1.445000	0.35079	2.666000	0.90696	0.655000	0.94253	GAG	CCDC42	-	NULL		0.622	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1	C	NM_144681		8638461	-1	no_errors	ENST00000293845	ensembl	human	known	70_37	missense	SNP	0.997	T	T	8638461	C	T	8638461	3	4	171	1	0	0	0	0	1	0	0	0	2819	864	30	1	132	1	CCDC42	17	8638461	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	695746	8638461	72556749	178	32499										
CCDC144A	9720	genome.wustl.edu	37	chr17	16638763	16638763	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gacagcaactggatgatgctCacaagaaagctaacagtcaa	9	9	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:16638763C>T	ENST00000360524.8	+	12	3254	c.3178C>T	c.(3178-3180)Cac>Tac	p.H1060Y	CCDC144A_ENST00000456009.1_Missense_Mutation_p.H780Y|CCDC144A_ENST00000443444.2_Missense_Mutation_p.H1060Y|CCDC144A_ENST00000399273.1_Missense_Mutation_p.H1060Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.H1060Y	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1060																	GGATGATGCTCACAAGAAAGC	0.393																																																	0													42	40	41					17																	16638763		1849	4095	5944	SO:0001583	missense	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3178C>T	17.37:g.16638763C>T	ENSP00000353717:p.His1060Tyr		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.H1060Y	ENST00000360524.8	37	c.3178	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.246430	0.00271	.	.	ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	2.08	-0.269	0.12930	.	.	.	.	.	T	0.06508	0.0167	N	0.16656	0.425	0.09310	N	1	B;B	0.21520	0.057;0.033	B;B	0.29267	0.1;0.035	T	0.44345	-0.9334	9	0.15499	T	0.54	.	1.0074	0.01490	0.2294:0.3898:0.2261:0.1548	.	780;1060	A2RUR9-3;A2RUR9	.;C144A_HUMAN	Y	1060;1060;1060;780	ENSP00000382215:H1060Y;ENSP00000439262:H1060Y;ENSP00000353717:H1060Y;ENSP00000394201:H780Y	ENSP00000353717:H1060Y	H	+	1	0	CCDC144A	16579488	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.223000	0.17719	-0.178000	0.10672	-0.751000	0.03497	CAC	CCDC144A	-	NULL		0.393	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	C			16638763	1	no_errors	ENST00000360524	ensembl	human	known	70_37	missense	SNP	0.262	T	T	16638763	C	T	16638763	3	4	171	1	0	0	0	0	1	0	0	0	2782	826	29	1	3224	1	CCDC144A	17	16638763	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	8000302	16638763	64556447	179	32500										
AP2B1	163	genome.wustl.edu	37	chr17	33984676	33984676	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	caacgaacctggaacagcctCaggttatcccctctcaaggt	8	14	2	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:33984676C>T	ENST00000262325.7	+	14	2408	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	AP2B1_ENST00000537622.2_Nonsense_Mutation_p.Q619*|AP2B1_ENST00000312678.8_Nonsense_Mutation_p.Q619*|AP2B1_ENST00000592545.1_Nonsense_Mutation_p.Q581*|AP2B1_ENST00000538556.1_Nonsense_Mutation_p.Q562*|AP2B1_ENST00000589344.1_Nonsense_Mutation_p.Q619*|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	619	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGAACAGCCTCAGGTTATCCC	0.498																																																	0													105	93	97					17																	33984676		2203	4300	6503	SO:0001587	stop_gained	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1855C>T	17.37:g.33984676C>T	ENSP00000262325:p.Gln619*		A6NJP3|P21851|Q7Z451|Q96J19	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.Q619*	ENST00000262325.7	37	c.1855	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	C	41	9.013683	0.99037	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	.	.	.	5.99	5.99	0.97316	.	0.049596	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	6.5594	19.4659	0.94939	0.0:1.0:0.0:0.0	.	.	.	.	X	619;619;562;619;356	.	ENSP00000262325:Q619X	Q	+	1	0	AP2B1	31008789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.933000	0.56545	2.840000	0.97914	0.655000	0.94253	CAG	AP2B1	-	pirsf_AP_complex_bsu_1_2_4		0.498	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	C			33984676	1	no_errors	ENST00000312678	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	33984676	C	T	33984676	4	4	171	1	0	0	0	0	0	1	0	0	741	827	29	1	1905	1	AP2B1	17	33984676	Nonsense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	17345913	33984676	47210534	180	32501										
GAS2L2	246176	genome.wustl.edu	37	chr17	34072389	34072389	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	atgtgggtgcccttggcactCaggcttgcctttgtcctggg	14	11	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:34072389C>G	ENST00000254466.6	-	6	2154	c.2127G>C	c.(2125-2127)ctG>ctC	p.L709L	GAS2L2_ENST00000587565.1_Silent_p.L693L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	709					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTGGCACTCAGGCTTGCCT	0.647																																																	0													96	98	98					17																	34072389		2203	4300	6503	SO:0001819	synonymous_variant	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2127G>C	17.37:g.34072389C>G			Q8NHY4	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.L709	ENST00000254466.6	37	c.2127	CCDS11298.1	17																																																																																			GAS2L2	-	NULL		0.647	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	C	NM_139285		34072389	-1	no_errors	ENST00000254466	ensembl	human	known	70_37	silent	SNP	0.000	G	G	34072389	C	G	34072389	2	3	171	1	0	0	0	0	0	0	0	1	6266	813	29	1		1	GAS2L2	17	34072389	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	87713	34072389	47122821	181	32502										
TAF15	8148	genome.wustl.edu	37	chr17	34171813	34171813	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	accgaggaggctatggaggaGatcgaggaggttacggagga	19	5	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:34171813G>C	ENST00000588240.1	+	15	1625	c.1510G>C	c.(1510-1512)Gat>Cat	p.D504H	TAF15_ENST00000311979.3_Missense_Mutation_p.D501H|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ctatggaggagatcgaggagg	0.602			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																			Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0													82	71	75					17																	34171813		2203	4300	6503	SO:0001583	missense	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1510G>C	17.37:g.34171813G>C	ENSP00000466950:p.Asp504His		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.D504H	ENST00000588240.1	37	c.1510	CCDS32623.1	17	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115654	0.37339	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	T	0.50803	0.1637	N	0.22421	0.69	0.32171	N	0.581671	D;D	0.89917	0.999;1.0	P;D	0.68353	0.907;0.957	T	0.57923	-0.7727	8	0.87932	D	0	-3.8021	8.9827	0.35974	0.1056:0.0:0.8944:0.0	.	504;501	Q92804;Q92804-2	RBP56_HUMAN;.	H	504;307	.	ENSP00000309558:D504H	D	+	1	0	TAF15	31195926	1.000000	0.71417	0.898000	0.35279	0.609000	0.37215	3.248000	0.51430	2.380000	0.81148	0.591000	0.81541	GAT	TAF15	-	NULL		0.602	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF15	HGNC	protein_coding	OTTHUMT00000449134.1	G	NM_139215		34171813	1	no_errors	ENST00000588240	ensembl	human	known	70_37	missense	SNP	0.997	C	C	34171813	G	C	34171813	3	2	171	1	0	0	0	0	1	0	0	0	15548	942	33	1	1568	1	TAF15	17	34171813	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	99424	34171813	47023397	182	32503										
MED1	5469	genome.wustl.edu	37	chr17	37566877	37566877	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gttctttttcaccatgtcttCaactgtctctgcaatgaggg	8	10	5	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:37566877C>G	ENST00000394287.3	-	17	1802	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	MED1_ENST00000300651.6_Missense_Mutation_p.E533Q			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACCATGTCTTCAACTGTCTCT	0.532										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													101	96	98					17																	37566877		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1597G>C	17.37:g.37566877C>G	ENSP00000377828:p.Glu533Gln		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.E533Q	ENST00000394287.3	37	c.1597		17	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539436	0.65085	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T;T	0.55413	0.52;0.52	5.8	5.8	0.92144	.	.	.	.	.	T	0.63462	0.2513	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.78314	0.979;0.991	T	0.63382	-0.6650	9	0.49607	T	0.09	-14.153	20.0505	0.97625	0.0:1.0:0.0:0.0	.	533;533	Q15648;Q15648-3	MED1_HUMAN;.	Q	533	ENSP00000377828:E533Q;ENSP00000300651:E533Q	ENSP00000300651:E533Q	E	-	1	0	MED1	34820403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.739000	0.93911	0.561000	0.74099	GAA	MED1	-	NULL		0.532	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	C	NM_004774		37566877	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37566877	C	G	37566877	3	3	171	1	0	0	0	0	1	0	0	0	9448	835	29	1	3152	1	MED1	17	37566877	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	3395064	37566877	43628333	183	32504										
HAP1	9001	genome.wustl.edu	37	chr17	39887937	39887937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ctccagcagcctcagcttctCctgcaaggcttccagctgtg	9	16	2	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:39887937C>T	ENST00000310778.5	-	5	964	c.955G>A	c.(955-957)Gag>Aag	p.E319K	HAP1_ENST00000347901.4_Missense_Mutation_p.E319K|HAP1_ENST00000393939.2_Missense_Mutation_p.E319K|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.E327K|RN7SL399P_ENST00000471648.2_RNA			P54257	HAP1_HUMAN	huntingtin-associated protein 1	319	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCAGCTTCTCCTGCAAGGCT	0.612																																																	0													81	74	76					17																	39887937		2203	4300	6503	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.955G>A	17.37:g.39887937C>T	ENSP00000309392:p.Glu319Lys		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.E319K	ENST00000310778.5	37	c.955		17	.	.	.	.	.	.	.	.	.	.	C	2.978	-0.211009	0.06140	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	3.94	-0.883	0.10600	.	1.291910	0.05771	N	0.606815	T	0.15565	0.0375	N	0.25380	0.74	0.19775	N	0.999958	B;B;B;B	0.24576	0.106;0.106;0.003;0.004	B;B;B;B	0.29353	0.101;0.101;0.013;0.023	T	0.39502	-0.9611	10	0.23891	T	0.37	-3.557	8.4504	0.32866	0.0:0.5557:0.3084:0.1359	.	319;327;319;319	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	K	319;319;319;327	ENSP00000377513:E319K;ENSP00000309392:E319K;ENSP00000334002:E319K;ENSP00000343170:E327K	ENSP00000309392:E319K	E	-	1	0	HAP1	37141463	1.000000	0.71417	0.096000	0.21009	0.001000	0.01503	0.541000	0.23207	-0.319000	0.08652	-1.080000	0.02220	GAG	HAP1	-	pfam_HAP1_N		0.612	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	C	NM_003949		39887937	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	missense	SNP	0.778	T	T	39887937	C	T	39887937	3	4	171	1	0	0	0	0	1	0	0	0	6973	864	30	1	932	1	HAP1	17	39887937	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	2321060	39887937	41307273	184	32505										
ACSF2	80221	genome.wustl.edu	37	chr17	48539018	48539018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ctgtgaacccagcctaccagGctatggaactggagtatgtc	11	11	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:48539018G>A	ENST00000300441.4	+	4	582	c.478G>A	c.(478-480)Gct>Act	p.A160T	ACSF2_ENST00000541920.1_5'UTR|ACSF2_ENST00000427954.2_Missense_Mutation_p.A185T|ACSF2_ENST00000502667.1_Splice_Site_p.A147T|ACSF2_ENST00000504392.1_Missense_Mutation_p.A117T	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	160					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCCTACCAGGCTATGGAACT	0.627																																																	0													86	83	84					17																	48539018		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.478G>A	17.37:g.48539018G>A	ENSP00000300441:p.Ala160Thr		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A160T	ENST00000300441.4	37	c.478	CCDS11567.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.168|8.168	0.791007|0.791007	0.16258|0.16258	.|.	.|.	ENSG00000167107|ENSG00000167107	ENST00000300441;ENST00000504392;ENST00000427954;ENST00000502667|ENST00000506582	T;T;T;T|T	0.56611|0.58940	0.85;0.85;0.85;0.45|0.3	4.97|4.97	1.57|1.57	0.23409|0.23409	AMP-dependent synthetase/ligase (1);|.	0.392363|.	0.28398|.	N|.	0.015486|.	T|T	0.49508|0.49508	0.1561|0.1561	N|N	0.26042|0.26042	0.785|0.785	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B;B|.	0.21452|.	0.031;0.024;0.056;0.031|.	B;B;B;B|.	0.25405|.	0.042;0.06;0.042;0.042|.	T|T	0.47114|0.47114	-0.9142|-0.9142	10|7	0.09084|0.48119	T|T	0.74|0.1	-5.1216|-5.1216	9.9957|9.9957	0.41898|0.41898	0.0:0.1167:0.4196:0.4637|0.0:0.1167:0.4196:0.4637	.|.	147;185;117;160|.	B4DHT5;B4DFQ6;E9PF16;Q96CM8|.	.;.;.;ACSF2_HUMAN|.	T|D	160;117;185;147|132	ENSP00000300441:A160T;ENSP00000425964:A117T;ENSP00000401831:A185T;ENSP00000421884:A147T|ENSP00000424842:G132D	ENSP00000300441:A160T|ENSP00000424842:G132D	A|G	+|+	1|2	0|0	ACSF2|ACSF2	45894017|45894017	0.911000|0.911000	0.30947|0.30947	0.974000|0.974000	0.42286|0.42286	0.939000|0.939000	0.58152|0.58152	0.170000|0.170000	0.16663|0.16663	0.626000|0.626000	0.30322|0.30322	0.655000|0.655000	0.94253|0.94253	GCT|GGC	ACSF2	-	pfam_AMP-dep_Synth/Lig		0.627	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	G	NM_025149		48539018	1	no_errors	ENST00000300441	ensembl	human	known	70_37	missense	SNP	0.483	A	A	48539018	G	A	48539018	3	1	171	1	0	0	0	0	1	0	0	0	175	1203	42	4	492	4	ACSF2	17	48539018	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	8651081	48539018	32656192	185	32506										
BZRAP1	9256	genome.wustl.edu	37	chr17	56385241	56385241	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcctgaggactcggacacctCtcttctgggggcccctccgc	12	17	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:56385241C>G	ENST00000343736.4	-	23	4956	c.4793G>C	c.(4792-4794)aGa>aCa	p.R1598T	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1538T|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1598T			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1598						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGACACCTCTCTTCTGGGG	0.632																																																	0													60	52	55					17																	56385241		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4793G>C	17.37:g.56385241C>G	ENSP00000345824:p.Arg1598Thr		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.R1598T	ENST00000343736.4	37	c.4793	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825071	0.32237	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04970	3.53;3.52;3.53	5.76	1.61	0.23674	.	0.481376	0.23474	N	0.047795	T	0.04543	0.0124	L	0.27053	0.805	0.32637	N	0.521232	B;B;B	0.32753	0.361;0.383;0.22	B;B;B	0.33042	0.157;0.124;0.039	T	0.21518	-1.0243	10	0.44086	T	0.13	.	6.9485	0.24532	0.0:0.5985:0.0:0.4015	.	1598;1538;1598	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	T	1598;1598;1538	ENSP00000347929:R1598T;ENSP00000345824:R1598T;ENSP00000268893:R1538T	ENSP00000268893:R1538T	R	-	2	0	BZRAP1	53740240	0.001000	0.12720	1.000000	0.80357	0.453000	0.32348	-0.549000	0.06041	0.799000	0.34018	0.563000	0.77884	AGA	BZRAP1	-	NULL		0.632	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	C	NM_004758		56385241	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	missense	SNP	0.996	G	G	56385241	C	G	56385241	3	3	171	1	0	0	0	0	1	0	0	0	1580	913	32	1	816	1	BZRAP1	17	56385241	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	7846223	56385241	24809969	186	32507										
ABCA6	23460	genome.wustl.edu	37	chr17	67077221	67077221	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcttacctgcttctaatttgTgaaaggtctgtgatagaggg	11	6	3	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:67077221T>A	ENST00000284425.2	-	37	4856	c.4682A>T	c.(4681-4683)cAc>cTc	p.H1561L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1561					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTAATTTGTGAAAGGTCTG	0.353																																																	0													120	124	122					17																	67077221		2203	4300	6503	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4682A>T	17.37:g.67077221T>A	ENSP00000284425:p.His1561Leu		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H1561L	ENST00000284425.2	37	c.4682	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	4.717	0.133243	0.09032	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.82803	-1.65	5.26	2.96	0.34315	.	0.523522	0.16502	N	0.211613	T	0.56277	0.1974	N	0.04636	-0.2	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45308	-0.9270	10	0.10377	T	0.69	.	1.904	0.03273	0.1527:0.0922:0.1783:0.5768	.	1561	Q8N139	ABCA6_HUMAN	L	1561;421	ENSP00000284425:H1561L	ENSP00000284425:H1561L	H	-	2	0	ABCA6	64588816	0.008000	0.16893	0.998000	0.56505	0.623000	0.37688	0.004000	0.13106	1.014000	0.39417	0.533000	0.62120	CAC	ABCA6	-	NULL		0.353	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	T	NM_080284		67077221	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	0.962	A	A	67077221	T	A	67077221	3	1	171	1	0	0	0	0	1	0	0	0	36	1696	59	5	183	5	ABCA6	17	67077221	Missense_Mutation	SNP	T	TCGA-LP-A5U2-01A-11D-A28B-09	10691980	67077221	14117989	187	32508										
UBE2O	63893	genome.wustl.edu	37	chr17	74388179	74388179	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcgagtggggcccttgatgaGagctgagaagaggtcctagg	17	7	0	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:74388179G>C	ENST00000319380.7	-	16	3026	c.2962C>G	c.(2962-2964)Ctc>Gtc	p.L988V		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	988					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCCTTGATGAGAGCTGAGAAG	0.602																																																	0													12	15	14					17																	74388179		2166	4272	6438	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2962C>G	17.37:g.74388179G>C	ENSP00000323687:p.Leu988Val		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L988V	ENST00000319380.7	37	c.2962	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	G	8.353	0.831324	0.16820	.	.	ENSG00000175931	ENST00000319380	T	0.71341	-0.56	5.19	3.18	0.36537	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.090159	0.45361	D	0.000377	T	0.67382	0.2887	N	0.20881	0.62	0.43003	D	0.994527	D	0.61697	0.99	P	0.60886	0.88	T	0.63541	-0.6614	10	0.27082	T	0.32	-16.0668	9.9148	0.41427	0.1598:0.0:0.8402:0.0	.	988	Q9C0C9	UBE2O_HUMAN	V	988	ENSP00000323687:L988V	ENSP00000323687:L988V	L	-	1	0	UBE2O	71899774	1.000000	0.71417	0.963000	0.40424	0.971000	0.66376	3.739000	0.55075	1.177000	0.42855	0.563000	0.77884	CTC	UBE2O	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.602	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	G	NM_022066		74388179	-1	no_errors	ENST00000319380	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74388179	G	C	74388179	3	2	171	1	0	0	0	0	1	0	0	0	16899	942	33	1	928	1	UBE2O	17	74388179	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	7310958	74388179	6807031	188	32509										
TMC6	11322	genome.wustl.edu	37	chr17	76117780	76117780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gctgtgccgcagctgccactCggccagcagctcctgcaggc	13	17	0	0	rs536179551		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:76117780C>T	ENST00000590602.1	-	11	1399	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	TMC6_ENST00000392467.3_Missense_Mutation_p.E414K|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.E53K|TMC6_ENST00000591436.1_Missense_Mutation_p.E53K|TMC6_ENST00000322914.3_Missense_Mutation_p.E414K|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000589553.1_Missense_Mutation_p.E187K			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	414					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCCACTCGGCCAGCAGC	0.687													C|||	1	0.000199681	8e-04	0	5008	,	,		15809	0		0	False		,,,				2504	0																0													8	10	9					17																	76117780		2021	4012	6033	SO:0001583	missense	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1240G>A	17.37:g.76117780C>T	ENSP00000465261:p.Glu414Lys		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.E414K	ENST00000590602.1	37	c.1240	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417514	0.62622	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.61742	0.08;0.08;0.08	4.36	4.36	0.52297	.	0.177321	0.34531	N	0.003895	T	0.72606	0.3481	M	0.79123	2.44	0.34921	D	0.748401	D;D;D;D	0.76494	0.999;0.976;0.992;0.995	D;B;P;P	0.62955	0.909;0.432;0.705;0.738	T	0.82729	-0.0313	10	0.72032	D	0.01	-20.579	12.5541	0.56244	0.0:0.8328:0.1672:0.0	.	187;414;414;53	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	K	414;414;53	ENSP00000313408:E414K;ENSP00000376260:E414K;ENSP00000313479:E53K	ENSP00000313408:E414K	E	-	1	0	TMC6	73629375	0.871000	0.30034	0.962000	0.40283	0.040000	0.13550	2.895000	0.48648	1.955000	0.56771	0.313000	0.20887	GAG	TMC6	-	NULL		0.687	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	C			76117780	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	0.993	T	T	76117780	C	T	76117780	3	4	171	1	0	0	0	0	1	0	0	0	16019	893	31	1	1217	1	TMC6	17	76117780	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	1729601	76117780	5077430	189	32510			2	132		2	2	13	C		8.992814e-05
TMC6	11322	genome.wustl.edu	37	chr17	76117792	76117792	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ctgccactcggccagcagctCctgcaggcggcaccgtgtcc	12	18	0	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:76117792C>G	ENST00000590602.1	-	11	1387	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	TMC6_ENST00000392467.3_Splice_Site_p.E410Q|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Splice_Site_p.E49Q|TMC6_ENST00000591436.1_Splice_Site_p.E49Q|TMC6_ENST00000322914.3_Splice_Site_p.E410Q|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000589553.1_Splice_Site_p.E183Q			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	410					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCCAGCAGCTCCTGCAGGCGG	0.672																																																	0													9	10	9					17																	76117792		2129	4156	6285	SO:0001630	splice_region_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1228-1G>C	17.37:g.76117792C>G			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.E410Q	ENST00000590602.1	37	c.1228	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939194	0.52972	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.54675	0.56;0.56;0.56	4.36	4.36	0.52297	.	0.231325	0.43919	D	0.000520	T	0.71702	0.3371	M	0.79693	2.465	0.34769	D	0.733502	D;D;D;D	0.89917	1.0;1.0;0.999;0.996	D;D;D;P	0.97110	1.0;0.996;0.978;0.836	T	0.81906	-0.0718	10	0.72032	D	0.01	-32.4766	11.8757	0.52546	0.174:0.826:0.0:0.0	.	183;410;410;49	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	Q	410;410;49	ENSP00000313408:E410Q;ENSP00000376260:E410Q;ENSP00000313479:E49Q	ENSP00000313408:E410Q	E	-	1	0	TMC6	73629387	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.695000	0.61767	1.955000	0.56771	0.313000	0.20887	GAG	TMC6	-	NULL		0.672	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	C		Missense_Mutation	76117792	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76117792	C	G	76117792	5	3	171	1	0	0	0	0	0	0	1	0	16019	869	30	1	1229	1	TMC6	17	76117792	Splice_Site	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	12	76117792	5077418	190	32511			2	132		2	2	13	C		8.992814e-05
RNF213	57674	genome.wustl.edu	37	chr17	78320002	78320002	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cagaagtcctctgcgcctctCagggtttcatgaggaaaaca	10	11	3	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:78320002C>G	ENST00000582970.1	+	29	8010	c.7867C>G	c.(7867-7869)Cag>Gag	p.Q2623E	RNF213_ENST00000508628.2_Missense_Mutation_p.Q2672E|RNF213_ENST00000336301.6_Missense_Mutation_p.Q696E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2623					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCGCCTCTCAGGGTTTCAT	0.522																																																	0													93	96	95					17																	78320002		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7867C>G	17.37:g.78320002C>G	ENSP00000464087:p.Gln2623Glu		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q2623E	ENST00000582970.1	37	c.7867	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580485	0.46006	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.39056	1.1	5.77	5.77	0.91146	.	0.158548	0.43579	D	0.000555	T	0.70657	0.3249	M	0.85197	2.74	0.47065	D	0.999305	D	0.71674	0.998	D	0.81914	0.995	T	0.74456	-0.3659	10	0.87932	D	0	.	19.9759	0.97304	0.0:1.0:0.0:0.0	.	696	Q63HN8	RN213_HUMAN	E	2623;2672;696	ENSP00000338218:Q696E	ENSP00000338218:Q696E	Q	+	1	0	RNF213	75934597	1.000000	0.71417	0.679000	0.29978	0.898000	0.52572	7.710000	0.84655	2.717000	0.92951	0.655000	0.94253	CAG	RNF213	-	NULL		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78320002	1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78320002	C	G	78320002	3	3	171	1	0	0	0	0	1	0	0	0	13507	827	29	1	8296	1	RNF213	17	78320002	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	2202210	78320002	2875208	191	32512										
NPTX1	4884	genome.wustl.edu	37	chr17	78449452	78449452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cacctgcctctccagctcatCgatcttgctctgcagcagat	7	16	4	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:78449452C>T	ENST00000306773.4	-	2	668	c.511G>A	c.(511-513)Gat>Aat	p.D171N	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	171					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TCCAGCTCATCGATCTTGCTC	0.637																																																	0													58	50	53					17																	78449452		2203	4299	6502	SO:0001583	missense	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.511G>A	17.37:g.78449452C>T	ENSP00000307549:p.Asp171Asn		B3KXH3|Q5FWE6	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.D171N	ENST00000306773.4	37	c.511	CCDS32762.1	17	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845136	0.51164	.	.	ENSG00000171246	ENST00000306773	T	0.09723	2.95	3.7	3.7	0.42460	.	0.108201	0.64402	D	0.000010	T	0.18087	0.0434	L	0.51422	1.61	0.51233	D	0.999912	D	0.69078	0.997	P	0.53760	0.734	T	0.04440	-1.0951	10	0.23302	T	0.38	-10.0196	14.7467	0.69494	0.0:1.0:0.0:0.0	.	171	Q15818	NPTX1_HUMAN	N	171	ENSP00000307549:D171N	ENSP00000307549:D171N	D	-	1	0	NPTX1	76064047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.579000	0.67457	2.068000	0.61886	0.561000	0.74099	GAT	NPTX1	-	NULL		0.637	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX1	HGNC	protein_coding	OTTHUMT00000438051.1	C			78449452	-1	no_errors	ENST00000306773	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78449452	C	T	78449452	3	4	171	1	0	0	0	0	1	0	0	0	10626	884	31	1	803	1	NPTX1	17	78449452	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	129450	78449452	2745758	192	32513										
ZNF750	79755	genome.wustl.edu	37	chr17	80789924	80789924	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gagctgggctcttgcagggtGatgccctgtggagggctggc	19	9	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:80789924G>T	ENST00000269394.3	-	2	1240	c.407C>A	c.(406-408)tCa>tAa	p.S136*	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	136					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTTGCAGGGTGATGCCCTGTG	0.642																																																	0													31	34	33					17																	80789924		2203	4300	6503	SO:0001587	stop_gained	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.407C>A	17.37:g.80789924G>T	ENSP00000269394:p.Ser136*		Q9H899	Nonsense_Mutation	SNP	NULL	p.S136*	ENST00000269394.3	37	c.407	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.803967	0.97849	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.86	-0.35	0.12606	.	1.469050	0.04165	N	0.323827	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.1696	3.3464	0.07137	0.4427:0.0:0.2844:0.2728	.	.	.	.	X	136	.	.	S	-	2	0	ZNF750	78383213	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.344000	0.19962	-0.035000	0.13691	0.655000	0.94253	TCA	ZNF750	-	NULL		0.642	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	G	NM_024702		80789924	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	80789924	G	T	80789924	4	4	171	1	0	0	0	0	0	1	0	0	18162	1294	45	3	1772	3	ZNF750	17	80789924	Nonsense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	2340472	80789924	405286	193	32514										
RALBP1	10928	genome.wustl.edu	37	chr18	9533746	9533746	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	actgaggagtactcctccgaGagcgagagcgagagtgagga	16	8	0	5			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:9533746G>T	ENST00000019317.4	+	9	1846	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	RALBP1_ENST00000383432.3_Missense_Mutation_p.E541D			Q15311	RBP1_HUMAN	ralA binding protein 1	541					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)	p.E541D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	ACTCCTCCGAGAGCGAGAGCG	0.537																																																	1	Substitution - Missense(1)	lung(1)											87	85	86					18																	9533746		2203	4300	6503	SO:0001583	missense	10928			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1623G>T	18.37:g.9533746G>T	ENSP00000019317:p.Glu541Asp		D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E541D	ENST00000019317.4	37	c.1623	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567829	0.13560	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.09255	3.0;3.0	5.11	-5.84	0.02318	.	0.338661	0.33980	N	0.004369	T	0.02848	0.0085	N	0.02539	-0.55	0.35511	D	0.800658	B	0.02656	0.0	B	0.01281	0.0	T	0.46303	-0.9201	10	0.10111	T	0.7	-7.497	11.5178	0.50532	0.1719:0.5435:0.2846:0.0	.	541	Q15311	RBP1_HUMAN	D	541	ENSP00000019317:E541D;ENSP00000372924:E541D	ENSP00000019317:E541D	E	+	3	2	RALBP1	9523746	0.960000	0.32886	0.004000	0.12327	0.754000	0.42855	0.095000	0.15127	-1.628000	0.01548	0.555000	0.69702	GAG	RALBP1	-	NULL		0.537	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1	G	NM_006788		9533746	1	no_errors	ENST00000019317	ensembl	human	known	70_37	missense	SNP	0.990	T	T	9533746	G	T	9533746	3	4	171	1	0	0	0	0	1	0	0	0	13042	933	33	3	1653	3	RALBP1	18	9533746	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		9533746	68543502	194	32515										
DSG3	1830	genome.wustl.edu	37	chr18	29045334	29045334	+	Missense_Mutation	SNP	C	C	G													0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aatgattgattcaaaaactgCtgaaatcaaatttgtcaaaa							TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:29045334C>G	ENST00000257189.4	+	10	1408	c.1325C>G	c.(1324-1326)gCt>gGt	p.A442G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAAAAACTGCTGAAATCAAA	0.313																																																	0													79	85	83					18																	29045334		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1325C>G	18.37:g.29045334C>G	ENSP00000257189:p.Ala442Gly		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.A442G	ENST00000257189.4	37	c.1325	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	C	3.337	-0.135395	0.06711	.	.	ENSG00000134757	ENST00000257189	T	0.40756	1.02	5.82	3.96	0.45880	Cadherin (3);Cadherin-like (1);	0.134614	0.32952	N	0.005458	T	0.17280	0.0415	N	0.01751	-0.74	0.36111	D	0.844819	B	0.10296	0.003	B	0.13407	0.009	T	0.28459	-1.0043	10	0.02654	T	1	.	16.2978	0.82784	0.0:0.6279:0.3721:0.0	.	442	P32926	DSG3_HUMAN	G	442	ENSP00000257189:A442G	ENSP00000257189:A442G	A	+	2	0	DSG3	27299332	1.000000	0.71417	0.917000	0.36280	0.950000	0.60333	1.427000	0.34881	0.737000	0.32582	0.467000	0.42956	GCT	DSG3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.313	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29045334	1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.992	G	G	29045334	C	G	29045334	3	3	171	1	0	0	0	0	1	0	0	0	4788	797	28	4	1363	4	DSG3	18	29045334	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	19511588	29045334	49031914	195	32516	210	2								
DSG3	1830	genome.wustl.edu	37	chr18	29045341	29045341	+	Missense_Mutation	SNP	C	C	G													0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gattcaaaaactgctgaaatCaaatttgtcaaaaatatgaa					rs141972001		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:29045341C>G	ENST00000257189.4	+	10	1415	c.1332C>G	c.(1330-1332)atC>atG	p.I444M		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGCTGAAATCAAATTTGTCA	0.308																																																	0													77	83	81					18																	29045341		2203	4297	6500	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1332C>G	18.37:g.29045341C>G	ENSP00000257189:p.Ile444Met		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.I444M	ENST00000257189.4	37	c.1332	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246443	0.59103	.	.	ENSG00000134757	ENST00000257189	T	0.66099	-0.19	5.82	1.34	0.21922	Cadherin (3);Cadherin-like (1);	0.000000	0.49916	D	0.000136	T	0.79690	0.4489	M	0.94063	3.49	0.32055	N	0.596452	D	0.89917	1.0	D	0.85130	0.997	T	0.78484	-0.2186	10	0.87932	D	0	.	5.327	0.15913	0.2699:0.5142:0.0:0.2159	.	444	P32926	DSG3_HUMAN	M	444	ENSP00000257189:I444M	ENSP00000257189:I444M	I	+	3	3	DSG3	27299339	0.983000	0.35010	1.000000	0.80357	0.950000	0.60333	0.193000	0.17116	0.339000	0.23719	0.467000	0.42956	ATC	DSG3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.308	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29045341	1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.998	G	G	29045341	C	G	29045341	3	3	171	1	0	0	0	0	1	0	0	0	4788	816	29	1	1370	1	DSG3	18	29045341	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	7	29045341	49031907	196	32517	210	2								
DSG3	1830	genome.wustl.edu	37	chr18	29045395	29045395	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttcatagttaacaaaacaatCacagctgaggttctggccat	7	9	3	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:29045395C>T	ENST00000257189.4	+	10	1469	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	462	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAAAACAATCACAGCTGAGG	0.313																																																	0													64	68	66					18																	29045395		2203	4300	6503	SO:0001819	synonymous_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1386C>T	18.37:g.29045395C>T			A8K2V2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.I462	ENST00000257189.4	37	c.1386	CCDS11898.1	18																																																																																			DSG3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.313	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29045395	1	no_errors	ENST00000257189	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29045395	C	T	29045395	2	4	171	1	0	0	0	0	0	0	0	1	4788	816	29	1		1	DSG3	18	29045395	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	54	29045395	49031853	197	32518										
KIAA0427	9811	genome.wustl.edu	37	chr18	46238059	46238059	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tgttccgcaggaggagaaatGatcgaaggtaggagagactt	15	5	0	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:46238059G>C	ENST00000256413.3	+	7	872	c.577G>C	c.(577-579)Gat>Cat	p.D193H	CTIF_ENST00000382998.4_Missense_Mutation_p.D193H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	193	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GAGGAGAAATGATCGAAGGTA	0.542											OREG0024973	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													195	177	183					18																	46238059		2203	4300	6503	SO:0001583	missense	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.577G>C	18.37:g.46238059G>C	ENSP00000256413:p.Asp193His	937	B3KTR8|Q8IVD5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.D193H	ENST00000256413.3	37	c.577	CCDS11935.1	18	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094363	0.76870	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.70631	-0.5;-0.44	5.1	5.1	0.69264	.	0.063003	0.64402	D	0.000013	T	0.81093	0.4751	L	0.55481	1.735	0.49915	D	0.999839	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82552	-0.0400	10	0.72032	D	0.01	-23.3463	15.7973	0.78423	0.0:0.0:1.0:0.0	.	193;193	O43310-2;O43310	.;CTIF_HUMAN	H	193;193;145	ENSP00000256413:D193H;ENSP00000372459:D193H	ENSP00000256413:D193H	D	+	1	0	CTIF	44492057	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	5.541000	0.67212	2.537000	0.85549	0.561000	0.74099	GAT	CTIF	-	NULL		0.542	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	G	NM_014772		46238059	1	no_errors	ENST00000382998	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46238059	G	C	46238059	3	2	171	1	0	0	0	0	1	0	0	0	8196	1290	45	1	599	1	KIAA0427	18	46238059	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	17192664	46238059	31839189	198	32519										
C19orf26	255057	genome.wustl.edu	37	chr19	1234584	1234584	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gctcacctggaagatggccaGagtggccttgggagaggtgg	18	8	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:1234584G>C	ENST00000382477.2	-	6	947	c.673C>G	c.(673-675)Ctg>Gtg	p.L225V	C19orf26_ENST00000215376.6_Missense_Mutation_p.L199V|C19orf26_ENST00000590083.1_Missense_Mutation_p.L205V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	225						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATGGCCAGAGTGGCCTTG	0.697										HNSCC(14;0.022)																																							0													41	38	39					19																	1234584		2189	4293	6482	SO:0001583	missense	255057			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.673C>G	19.37:g.1234584G>C	ENSP00000371917:p.Leu225Val		O43385	Missense_Mutation	SNP	NULL	p.L225V	ENST00000382477.2	37	c.673		19	.	.	.	.	.	.	.	.	.	.	G	9.588	1.125468	0.20959	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.06	0.0876	0.14451	.	0.097154	0.42682	D	0.000669	T	0.30854	0.0778	N	0.20986	0.625	0.38273	D	0.942199	P	0.46142	0.873	B	0.42555	0.391	T	0.10291	-1.0636	9	0.51188	T	0.08	.	8.1473	0.31119	0.3023:0.0:0.6977:0.0	.	199	Q8N350-2	.	V	225;199	.	ENSP00000215376:L199V	L	-	1	2	C19orf26	1185584	1.000000	0.71417	0.603000	0.28903	0.017000	0.09413	2.797000	0.47877	-0.332000	0.08489	-1.134000	0.01955	CTG	C19orf26	-	NULL		0.697	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	C19orf26	HGNC	protein_coding		G	NM_152769		1234584	-1	no_errors	ENST00000382477	ensembl	human	known	70_37	missense	SNP	0.795	C	C	1234584	G	C	1234584	3	2	171	1	0	0	0	0	1	0	0	0	1921	933	33	1	764	1	C19orf26	19	1234584	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		1234584	57894399	199	32520										
KDM4B	23030	genome.wustl.edu	37	chr19	5047638	5047638	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcacaccgaggacatggaccTgtacagcatcaactacctgc	9	14	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:5047638T>A	ENST00000159111.4	+	6	802	c.584T>A	c.(583-585)cTg>cAg	p.L195Q	KDM4B_ENST00000381759.4_Missense_Mutation_p.L195Q|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.L195Q	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	195	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GACATGGACCTGTACAGCATC	0.637																																																	0													226	159	182					19																	5047638		2203	4300	6503	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.584T>A	19.37:g.5047638T>A	ENSP00000159111:p.Leu195Gln		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.L195Q	ENST00000159111.4	37	c.584	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714068	0.89112	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.75477	-0.94;-0.94;-0.94	4.32	4.32	0.51571	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	D	0.000002	D	0.90834	0.7121	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.93841	0.7136	10	0.87932	D	0	-31.1132	13.6209	0.62136	0.0:0.0:0.0:1.0	.	195;195;195	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	Q	195	ENSP00000159111:L195Q;ENSP00000371178:L195Q;ENSP00000440495:L195Q	ENSP00000159111:L195Q	L	+	2	0	KDM4B	4998638	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	7.779000	0.85648	1.803000	0.52742	0.533000	0.62120	CTG	KDM4B	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.637	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	T	NM_015015		5047638	1	no_errors	ENST00000159111	ensembl	human	known	70_37	missense	SNP	1.000	A	A	5047638	T	A	5047638	3	1	171	1	0	0	0	0	1	0	0	0	8149	1580	55	5	598	5	KDM4B	19	5047638	Missense_Mutation	SNP	T	TCGA-LP-A5U2-01A-11D-A28B-09	3813054	5047638	54081345	200	32521										
DUS3L	56931	genome.wustl.edu	37	chr19	5787352	5787352	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tggaacttggtggagcgattCatgagggcacagcccccacc	13	12	1	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:5787352C>T	ENST00000309061.7	-	7	1329	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	DUS3L_ENST00000590681.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.M169I|PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	411							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGGAGCGATTCATGAGGGCAC	0.672																																																	0													63	73	70					19																	5787352		2203	4300	6503	SO:0001583	missense	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1233G>A	19.37:g.5787352C>T	ENSP00000311977:p.Met411Ile		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.M411I	ENST00000309061.7	37	c.1233	CCDS32880.1	19	.	.	.	.	.	.	.	.	.	.	c	12.78	2.041853	0.35989	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.32023	1.47;1.47	4.17	3.08	0.35506	Aldolase-type TIM barrel (1);	0.044063	0.85682	N	0.000000	T	0.41026	0.1141	M	0.85041	2.73	0.41232	D	0.986589	B;B	0.28933	0.228;0.063	B;B	0.34931	0.192;0.056	T	0.42515	-0.9447	10	0.59425	D	0.04	-21.2574	11.2701	0.49133	0.0:0.8126:0.1874:0.0	.	169;411	Q96G46-3;Q96G46	.;DUS3L_HUMAN	I	411;169	ENSP00000311977:M411I;ENSP00000315558:M169I	ENSP00000311977:M411I	M	-	3	0	DUS3L	5738352	1.000000	0.71417	0.977000	0.42913	0.335000	0.28730	7.076000	0.76806	0.696000	0.31696	0.437000	0.28790	ATG	DUS3L	-	pfam_tRNA_hU_synthase		0.672	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	C	NM_020175		5787352	-1	no_errors	ENST00000309061	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5787352	C	T	5787352	3	4	171	1	0	0	0	0	1	0	0	0	4817	826	29	1	747	1	DUS3L	19	5787352	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	739714	5787352	53341631	201	32522										
MUC16	94025	genome.wustl.edu	37	chr19	9071033	9071033	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tgaatttggttagtctgagaGatattaggagttgatgtgga	14	1	1	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:9071033G>A	ENST00000397910.4	-	3	16616	c.16413C>T	c.(16411-16413)atC>atT	p.I5471I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5473	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCTGAGAGATATTAGGAG	0.507																																																	0													132	130	130					19																	9071033		2025	4177	6202	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16413C>T	19.37:g.9071033G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.I5471	ENST00000397910.4	37	c.16413	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071033	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	A	A	9071033	G	A	9071033	2	1	171	1	0	0	0	0	0	0	0	1	9996	932	33	1		1	MUC16	19	9071033	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	3283681	9071033	50057950	202	32523										
EPHX3	79852	genome.wustl.edu	37	chr19	15342841	15342841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tcaggcaggcgggggacgcgCtccgacggcgcccgcagcag	18	15	1	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:15342841C>T	ENST00000221730.3	-	1	402	c.182G>A	c.(181-183)aGc>aAc	p.S61N	EPHX3_ENST00000435261.1_Missense_Mutation_p.S61N|EPHX3_ENST00000602233.1_Missense_Mutation_p.S61N	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	61						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGGGGACGCGCTCCGACGGCG	0.741																																																	0													5	7	6					19																	15342841		1854	3886	5740	SO:0001583	missense	79852			AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"Abhydrolase domain containing"	23760	protein-coding gene	gene with protein product			"abhydrolase domain containing 9"	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.182G>A	19.37:g.15342841C>T	ENSP00000221730:p.Ser61Asn		A3KMR3	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.S61N	ENST00000221730.3	37	c.182	CCDS12327.1	19	.	.	.	.	.	.	.	.	.	.	C	5.677	0.309512	0.10733	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.63417	-0.04;-0.04	4.01	0.116	0.14647	.	1.824940	0.03291	U	0.187615	T	0.44393	0.1291	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13469	-1.0508	10	0.26408	T	0.33	-0.4589	2.4881	0.04603	0.1898:0.5129:0.185:0.1123	.	61	Q9H6B9	EPHX3_HUMAN	N	61	ENSP00000221730:S61N;ENSP00000410323:S61N	ENSP00000221730:S61N	S	-	2	0	EPHX3	15203841	0.000000	0.05858	0.008000	0.14137	0.010000	0.07245	-0.141000	0.10327	0.135000	0.18707	0.491000	0.48974	AGC	EPHX3	-	NULL		0.741	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EPHX3	HGNC	protein_coding	OTTHUMT00000465797.1	C	NM_024794		15342841	-1	no_errors	ENST00000221730	ensembl	human	known	70_37	missense	SNP	0.000	T	T	15342841	C	T	15342841	3	4	171	1	0	0	0	0	1	0	0	0	5193	797	28	4	928	4	EPHX3	19	15342841	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	6271808	15342841	43786142	203	32524										
ZNF430	80264	genome.wustl.edu	37	chr19	21240265	21240265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	atgtggcaaagctttttaccGattctcataccttactaaac	5	10	1	0	rs199515644	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:21240265G>A	ENST00000261560.5	+	5	1332	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	384					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R384Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GCTTTTTACCGATTCTCATAC	0.368													.|||	2	0.000399361	0.0015	0	5008	,	,		21260	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											30	34	32					19																	21240265		2190	4289	6479	SO:0001583	missense	80264			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1151G>A	19.37:g.21240265G>A	ENSP00000261560:p.Arg384Gln		Q86V70	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R384Q	ENST00000261560.5	37	c.1151	CCDS32978.1	19	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.386331	0.00202	.	.	ENSG00000118620	ENST00000261560	T	0.35421	1.31	1.05	-2.11	0.07187	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09335	0.0230	N	0.05608	-0.01	0.09310	N	1	D;B	0.59767	0.986;0.146	B;B	0.31290	0.127;0.007	T	0.30268	-0.9984	9	0.02654	T	1	.	5.9345	0.19158	0.309:0.0:0.691:0.0	.	383;384	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	Q	384	ENSP00000261560:R384Q	ENSP00000261560:R384Q	R	+	2	0	ZNF430	21032105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.205000	0.00274	-0.657000	0.05373	-0.672000	0.03802	CGA	ZNF430	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF430	HGNC	protein_coding	OTTHUMT00000463539.1	G	NM_025189		21240265	1	no_errors	ENST00000261560	ensembl	human	known	70_37	missense	SNP	0.000	A	A	21240265	G	A	21240265	3	1	171	1	0	0	0	0	1	0	0	0	17934	1058	37	1	1169	1	ZNF430	19	21240265	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	5897424	21240265	37888718	204	32525										
ZNF257	113835	genome.wustl.edu	37	chr19	22271993	22271993	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ttactcaacataaaataattCatactggggagaagccctac	6	9	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:22271993C>T	ENST00000594947.1	+	4	1585	c.1441C>T	c.(1441-1443)Cat>Tat	p.H481Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAAATAATTCATACTGGGGA	0.393																																																	0													42	47	46					19																	22271993		2115	4250	6365	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1441C>T	19.37:g.22271993C>T	ENSP00000470209:p.His481Tyr		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H481Y	ENST00000594947.1	37	c.1441	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087992	0.36855	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65004	0.2650	H	0.95437	3.67	0.27266	N	0.958497	D	0.58620	0.983	P	0.49301	0.606	T	0.61763	-0.6996	8	0.87932	D	0	.	9.0461	0.36347	0.0:1.0:0.0:0.0	.	481	Q9Y2Q1	ZN257_HUMAN	Y	481;453	.	ENSP00000380312:H453Y	H	+	1	0	ZNF257	22063833	0.966000	0.33281	0.104000	0.21259	0.039000	0.13416	3.637000	0.54324	0.518000	0.28383	0.313000	0.20887	CAT	ZNF257	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	C			22271993	1	no_errors	ENST00000594947	ensembl	human	known	70_37	missense	SNP	0.998	T	T	22271993	C	T	22271993	3	4	171	1	0	0	0	0	1	0	0	0	17830	826	29	1	1455	1	ZNF257	19	22271993	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	1031728	22271993	36856990	205	32526										
RYR1	6261	genome.wustl.edu	37	chr19	38945895	38945895	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gggatgctctccatggtcctGaattgcatagaccgcctaaa	10	11	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:38945895G>C	ENST00000359596.3	+	14	1461	c.1461G>C	c.(1459-1461)ctG>ctC	p.L487L	RYR1_ENST00000355481.4_Silent_p.L487L|RYR1_ENST00000360985.3_Silent_p.L487L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	487			L -> P (in MHS1; unknown pathological significance). {ECO:0000269|PubMed:23558838}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCATGGTCCTGAATTGCATAG	0.502											OREG0005269	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=RYR1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													168	146	154					19																	38945895		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1461G>C	19.37:g.38945895G>C		882	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L487	ENST00000359596.3	37	c.1461	CCDS33011.1	19																																																																																			RYR1	-	pfam_Ca-rel_channel		0.502	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38945895	1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	1.000	C	C	38945895	G	C	38945895	2	2	171	1	0	0	0	0	0	0	0	1	13798	1277	45	1		1	RYR1	19	38945895	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	16673902	38945895	20183088	206	32527										
IL28A	282616	genome.wustl.edu	37	chr19	39760613	39760613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cctcttccgcctcctcacgcGagacctgaattgtgttgcca	8	16	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:39760613G>T	ENST00000331982.5	+	6	618	c.563G>T	c.(562-564)cGa>cTa	p.R188L		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	188					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CTCCTCACGCGAGACCTGAAT	0.542																																																	0													46	45	45					19																	39760613		2203	4300	6503	SO:0001583	missense	282616			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.563G>T	19.37:g.39760613G>T	ENSP00000333639:p.Arg188Leu		Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.R188L	ENST00000331982.5	37	c.563	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264962	0.23136	.	.	ENSG00000183709	ENST00000331982	T	0.33865	1.39	3.43	-3.38	0.04883	.	1.521050	0.03997	N	0.295834	T	0.31263	0.0791	M	0.69185	2.1	0.09310	N	1	B	0.18166	0.026	B	0.14578	0.011	T	0.36672	-0.9738	10	0.56958	D	0.05	-2.5153	0.5098	0.00593	0.3447:0.1762:0.2997:0.1794	.	188	Q8IZJ0	IL28A_HUMAN	L	188	ENSP00000333639:R188L	ENSP00000333639:R188L	R	+	2	0	IL28A	44452453	0.001000	0.12720	0.023000	0.16930	0.003000	0.03518	-0.328000	0.07945	-0.274000	0.09232	-0.232000	0.12228	CGA	IL28A	-	NULL		0.542	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL28A	HGNC	protein_coding	OTTHUMT00000463833.1	G	NM_172138		39760613	1	no_errors	ENST00000331982	ensembl	human	known	70_37	missense	SNP	0.001	T	T	39760613	G	T	39760613	3	4	171	1	0	0	0	0	1	0	0	0	7702	1058	37	3	585	3	IL28A	19	39760613	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	814718	39760613	19368370	207	32528										
LYPD3	27076	genome.wustl.edu	37	chr19	43967923	43967923	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	agcgagaattgtccgtggacTagggagagggacaagggcgg	19	6	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:43967923T>C	ENST00000244333.3	-	3	300		c.e3-2			NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3						cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GTCCGTGGACTAGGGAGAGGG	0.647																																																	0													42	42	42					19																	43967923		2203	4300	6503	SO:0001630	splice_region_variant	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.212-2A>G	19.37:g.43967923T>C			Q9UJ74	Splice_Site	SNP	-	e3-2	ENST00000244333.3	37	c.212-2	CCDS12620.1	19	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638896	0.47153	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1662	0.48545	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LYPD3	48659763	0.988000	0.35896	0.931000	0.37212	0.398000	0.30690	2.376000	0.44292	1.976000	0.57569	0.456000	0.33151	.	LYPD3	-	-		0.647	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	T	NM_014400	Intron	43967923	-1	no_errors	ENST00000244333	ensembl	human	known	70_37	splice_site	SNP	0.957	C	C	43967923	T	C	43967923	5	2	171	1	0	0	0	0	0	0	1	0	9134	1536	53	5	842	5	LYPD3	19	43967923	Splice_Site	SNP	T	TCGA-LP-A5U2-01A-11D-A28B-09	4207310	43967923	15161060	208	32529										
LYPD5	284348	genome.wustl.edu	37	chr19	44302748	44302748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gccgctgagcgtcggcgggtCgggtgctggcaagagagcgt	20	10	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:44302748C>T	ENST00000377950.3	-	4	456	c.376G>A	c.(376-378)Gac>Aac	p.D126N	LYPD5_ENST00000414615.2_Missense_Mutation_p.D83N|AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000594013.1_Missense_Mutation_p.D83N	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	126						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				GTCGGCGGGTCGGGTGCTGGC	0.672																																																	0													48	45	46					19																	44302748		2203	4298	6501	SO:0001583	missense	284348			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.376G>A	19.37:g.44302748C>T	ENSP00000367185:p.Asp126Asn		Q6PEX9|Q96DR2	Missense_Mutation	SNP	pfam_LY6_UPAR	p.D126N	ENST00000377950.3	37	c.376	CCDS46096.1	19	.	.	.	.	.	.	.	.	.	.	C	2.236	-0.375017	0.05034	.	.	ENSG00000159871	ENST00000377950;ENST00000414615	T;T	0.21191	3.32;2.02	4.25	-7.43	0.01383	.	0.789406	0.10802	N	0.632615	T	0.06645	0.0170	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.40887	-0.9539	10	0.06236	T	0.91	-12.833	13.7882	0.63123	0.0:0.6499:0.0:0.3501	.	126	Q6UWN5	LYPD5_HUMAN	N	126;83	ENSP00000367185:D126N;ENSP00000408433:D83N	ENSP00000367185:D126N	D	-	1	0	LYPD5	48994588	0.001000	0.12720	0.001000	0.08648	0.052000	0.14988	-1.462000	0.02364	-1.866000	0.01145	-1.051000	0.02340	GAC	LYPD5	-	NULL		0.672	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD5	HGNC	protein_coding	OTTHUMT00000463611.1	C	NM_182573		44302748	-1	no_errors	ENST00000377950	ensembl	human	known	70_37	missense	SNP	0.001	T	T	44302748	C	T	44302748	3	4	171	1	0	0	0	0	1	0	0	0	9136	884	31	1	387	1	LYPD5	19	44302748	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	334825	44302748	14826235	209	32530										
CEACAM20	125931	genome.wustl.edu	37	chr19	45015098	45015098	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ataaacatacctcatagattGactccatgttttttggcaca	5	9	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:45015098G>C	ENST00000454753.1	-	0	2006							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTCATAGATTGACTCCATGTT	0.478																																																	0													88	89	89					19																	45015098		1885	4114	5999			125931			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015098G>C				RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-		0.478	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	G	NM_198444		45015098	-1	no_errors	ENST00000316962	ensembl	human	known	70_37	rna	SNP	0.009	C	C	45015098	G	C	45015098	1	2	171	0	1	0	0	0	0	0	0	0	3196	1294	45	1		1	CEACAM20	19	45015098	RNA	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	712350	45015098	14113885	210	32531										
ZNF473	25888	genome.wustl.edu	37	chr19	50549917	50549917	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gattactgcgggaaggccttCggcctgagtgctgagcttgt	15	9	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:50549917C>T	ENST00000595661.1	+	6	2712	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.F727F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.F739F|ZNF473_ENST00000270617.3_Silent_p.F739F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	739					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F739F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGAAGGCCTTCGGCCTGAGTG	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	lung(1)											79	84	82					19																	50549917		2203	4300	6503	SO:0001819	synonymous_variant	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2217C>T	19.37:g.50549917C>T		970	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F739	ENST00000595661.1	37	c.2217	CCDS33077.1	19																																																																																			ZNF473	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	C	XM_046390		50549917	1	no_errors	ENST00000270617	ensembl	human	known	70_37	silent	SNP	0.007	T	T	50549917	C	T	50549917	2	4	171	1	0	0	0	0	0	0	0	1	17961	883	31	1		1	ZNF473	19	50549917	Silent	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	5534819	50549917	8579066	211	32532										
ZNF473	25888	genome.wustl.edu	37	chr19	50550144	50550144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cacaggggagaagccttactCctgtaatgtgtgtggcaaag	13	8	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:50550144C>T	ENST00000595661.1	+	6	2939	c.2444C>T	c.(2443-2445)tCc>tTc	p.S815F	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.S803F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.S815F|ZNF473_ENST00000270617.3_Missense_Mutation_p.S815F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	815					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAGCCTTACTCCTGTAATGTG	0.502											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	80	81					19																	50550144		2203	4300	6503	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2444C>T	19.37:g.50550144C>T	ENSP00000472808:p.Ser815Phe	970	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S815F	ENST00000595661.1	37	c.2444	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	C	9.894	1.204916	0.22205	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.18016	2.24;2.24;2.24	4.06	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.022810	0.02407	N	0.081218	T	0.17408	0.0418	L	0.52759	1.655	0.09310	N	1	P	0.35612	0.512	B	0.36504	0.226	T	0.29549	-1.0008	10	0.72032	D	0.01	2.8885	4.2335	0.10615	0.1613:0.3673:0.0:0.4714	.	815	Q8WTR7	ZN473_HUMAN	F	815;815;803	ENSP00000270617:S815F;ENSP00000375697:S815F;ENSP00000388961:S803F	ENSP00000270617:S815F	S	+	2	0	ZNF473	55241956	0.000000	0.05858	0.004000	0.12327	0.077000	0.17291	-4.070000	0.00301	-0.175000	0.10725	-0.150000	0.13652	TCC	ZNF473	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.502	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	C	XM_046390		50550144	1	no_errors	ENST00000270617	ensembl	human	known	70_37	missense	SNP	0.001	T	T	50550144	C	T	50550144	3	4	171	1	0	0	0	0	1	0	0	0	17961	855	30	1	2458	1	ZNF473	19	50550144	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	227	50550144	8578839	212	32533										
MYH14	79784	genome.wustl.edu	37	chr19	50796879	50796879	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcctggggcagttggaggaaGagctggaggaggagcagagc	21	6	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:50796879G>C	ENST00000596571.1	+	36	5281	c.5281G>C	c.(5281-5283)Gag>Cag	p.E1761Q	MYH14_ENST00000262269.8_Missense_Mutation_p.E1802Q|MYH14_ENST00000440075.2_Missense_Mutation_p.E1802Q|MYH14_ENST00000425460.1_Missense_Mutation_p.E1769Q|MYH14_ENST00000376970.2_Missense_Mutation_p.E1794Q|MYH14_ENST00000601313.1_Missense_Mutation_p.E1802Q|MYH14_ENST00000598205.1_Missense_Mutation_p.E1769Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1761					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTTGGAGGAAGAGCTGGAGGA	0.627																																																	0													44	47	46					19																	50796879		2190	4292	6482	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5281G>C	19.37:g.50796879G>C	ENSP00000472819:p.Glu1761Gln		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1802Q	ENST00000596571.1	37	c.5404	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963548	0.74016	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	3.61	3.61	0.41365	Myosin tail (1);	.	.	.	.	D	0.85318	0.5669	L	0.61036	1.89	0.47698	D	0.999493	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.86757	0.1964	9	0.87932	D	0	.	13.5351	0.61643	0.0:0.0:1.0:0.0	.	1802;1761;1769	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	1802;1794;1769;1545;1802	ENSP00000406273:E1802Q;ENSP00000366169:E1794Q;ENSP00000407879:E1769Q;ENSP00000262269:E1802Q	ENSP00000262269:E1802Q	E	+	1	0	MYH14	55488691	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.455000	0.97625	2.311000	0.77944	0.407000	0.27541	GAG	MYH14	-	pfam_Myosin_tail		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	G	NM_024729		50796879	1	no_errors	ENST00000262269	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50796879	G	C	50796879	3	2	171	1	0	0	0	0	1	0	0	0	10056	943	33	1	5554	1	MYH14	19	50796879	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	246735	50796879	8332104	213	32534										
FPR3	2359	genome.wustl.edu	37	chr19	52328001	52328001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aggtccctgactcagcccagAccagcaacacagacaccact	7	17	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:52328001A>G	ENST00000339223.4	+	2	1179	c.1000A>G	c.(1000-1002)Acc>Gcc	p.T334A	FPR3_ENST00000595991.1_Missense_Mutation_p.T334A	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	334					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTCAGCCCAGACCAGCAACAC	0.512																																																	0													60	54	56					19																	52328001		2203	4300	6503	SO:0001583	missense	2359				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.1000A>G	19.37:g.52328001A>G	ENSP00000341821:p.Thr334Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.T334A	ENST00000339223.4	37	c.1000	CCDS12841.1	19	.	.	.	.	.	.	.	.	.	.	.	7.425	0.637486	0.14386	.	.	ENSG00000187474	ENST00000339223	T	0.37411	1.2	2.35	-0.143	0.13444	.	0.363429	0.23692	N	0.045508	T	0.32164	0.0820	M	0.83312	2.635	0.09310	N	1	B	0.12630	0.006	B	0.19148	0.024	T	0.29027	-1.0025	10	0.26408	T	0.33	.	2.108	0.03695	0.582:0.0:0.1642:0.2539	.	334	P25089	FPR3_HUMAN	A	334	ENSP00000341821:T334A	ENSP00000341821:T334A	T	+	1	0	FPR3	57019813	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.565000	0.05929	-0.267000	0.09325	0.260000	0.18958	ACC	FPR3	-	NULL		0.512	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FPR3	HGNC	protein_coding	OTTHUMT00000466914.1	A	NM_002030		52328001	1	no_errors	ENST00000339223	ensembl	human	known	70_37	missense	SNP	0.000	G	G	52328001	A	G	52328001	3	3	171	1	0	0	0	0	1	0	0	0	6058	275	10	5	1002	5	FPR3	19	52328001	Missense_Mutation	SNP	A	TCGA-LP-A5U2-01A-11D-A28B-09	1531122	52328001	6800982	214	32535										
ZNF586	54807	genome.wustl.edu	37	chr19	58287926	58287926	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aacagagcagtgtgacctttGaagatgtggctgtaaacttt	11	6	0	4			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:58287926G>A	ENST00000396154.2	+	2	225	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_5'UTR|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGACCTTTGAAGATGTGGC	0.483																																																	0													197	198	198					19																	58287926		2201	4300	6501	SO:0001583	missense	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.52G>A	19.37:g.58287926G>A	ENSP00000379458:p.Glu18Lys		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E18K	ENST00000396154.2	37	c.52	CCDS42640.1	19	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213343	0.22289	.	.	ENSG00000083828	ENST00000449441;ENST00000396154	T	0.01685	4.69	2.06	-0.29	0.12847	Krueppel-associated box (4);	.	.	.	.	T	0.01523	0.0049	L	0.53671	1.685	0.44798	D	0.997806	B	0.20780	0.048	B	0.23716	0.048	T	0.44345	-0.9334	9	0.02654	T	1	.	2.8063	0.05428	0.1997:0.3091:0.4912:0.0	.	18	Q9NXT0	ZN586_HUMAN	K	18	ENSP00000379458:E18K	ENSP00000379458:E18K	E	+	1	0	ZNF586	62979738	0.001000	0.12720	0.679000	0.29978	0.990000	0.78478	-0.389000	0.07342	0.176000	0.19873	0.655000	0.94253	GAA	ZNF586	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	G	NM_017652		58287926	1	no_errors	ENST00000396154	ensembl	human	known	70_37	missense	SNP	0.676	A	A	58287926	G	A	58287926	3	1	171	1	0	0	0	0	1	0	0	0	18049	1291	45	1	58	1	ZNF586	19	58287926	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	5959925	58287926	841057	215	32536										
ADRA1D	146	genome.wustl.edu	37	chr20	4202235	4202235	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggcctggcaggtggcgccctCggccacctcgtgtgggacgc	17	15	0	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr20:4202235C>G	ENST00000379453.4	-	2	1770	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	552				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTGGCGCCCTCGGCCACCTCG	0.682																																																	0													27	30	29					20																	4202235		2202	4297	6499	SO:0001583	missense	146			U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"GPCR / Class A : Adrenoceptors : alpha"	280	protein-coding gene	gene with protein product		104219	"adrenergic, alpha-1D-, receptor"			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1654G>C	20.37:g.4202235C>G	ENSP00000368766:p.Glu552Gln		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A1A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.E552Q	ENST00000379453.4	37	c.1654	CCDS13079.1	20	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950452	0.53186	.	.	ENSG00000171873	ENST00000379453	T	0.62364	0.03	3.48	3.48	0.39840	.	151.176000	0.00166	U	0.000000	T	0.72391	0.3454	L	0.50333	1.59	0.20074	N	0.999932	D	0.57571	0.98	P	0.53912	0.737	T	0.60811	-0.7189	10	0.72032	D	0.01	.	12.8115	0.57641	0.0:1.0:0.0:0.0	.	552	P25100	ADA1D_HUMAN	Q	552	ENSP00000368766:E552Q	ENSP00000368766:E552Q	E	-	1	0	ADRA1D	4150235	0.999000	0.42202	0.831000	0.32960	0.420000	0.31355	4.123000	0.57917	1.893000	0.54813	0.305000	0.20034	GAG	ADRA1D	-	prints_Adren_rcpt_A1A		0.682	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1D	HGNC	protein_coding	OTTHUMT00000077812.2	C	NM_000678		4202235	-1	no_errors	ENST00000379453	ensembl	human	known	70_37	missense	SNP	0.332	G	G	4202235	C	G	4202235	3	3	171	1	0	0	0	0	1	0	0	0	336	893	31	1	68	1	ADRA1D	20	4202235	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09		4202235	58823285	216	32537										
RNF114	55905	genome.wustl.edu	37	chr20	48553058	48553058	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ccgtgtgcttagaggtgtacGagaagccggtacaggtgccc	15	10	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr20:48553058G>C	ENST00000244061.2	+	1	111	c.109G>C	c.(109-111)Gag>Cag	p.E37Q		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	37					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						AGAGGTGTACGAGAAGCCGGT	0.692																																																	0													9	10	10					20																	48553058		2166	4235	6401	SO:0001583	missense	55905			AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"RING-type (C3HC4) zinc fingers"	13094	protein-coding gene	gene with protein product		612451	"zinc finger protein 313"	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.109G>C	20.37:g.48553058G>C	ENSP00000244061:p.Glu37Gln		B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	pfam_Di19_RING_finger_144,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E37Q	ENST00000244061.2	37	c.109	CCDS33482.1	20	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986425	0.74589	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	D	0.87103	-2.21	4.65	2.69	0.31865	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.175990	0.50627	D	0.000120	T	0.81814	0.4902	N	0.16201	0.385	0.39570	D	0.969268	P;D	0.54601	0.507;0.967	B;P	0.54815	0.345;0.761	T	0.78196	-0.2298	10	0.27082	T	0.32	-9.2903	10.3285	0.43807	0.166:0.0:0.834:0.0	.	37;37	Q9Y508-2;Q9Y508	.;RN114_HUMAN	Q	37	ENSP00000244061:E37Q	ENSP00000244061:E37Q	E	+	1	0	RNF114	47986465	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.178000	0.65037	0.683000	0.31428	-0.266000	0.10368	GAG	RNF114	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.692	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	RNF114	HGNC	protein_coding	OTTHUMT00000079663.1	G	NM_018683		48553058	1	no_errors	ENST00000244061	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48553058	G	C	48553058	3	2	171	1	0	0	0	0	1	0	0	0	13459	1059	37	1	111	1	RNF114	20	48553058	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	44350823	48553058	14472462	217	32538										
DONSON	29980	genome.wustl.edu	37	chr21	34951825	34951825	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tctccaaactaaattggtctCtgtatccagaaagagcttgt	7	9	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr21:34951825C>G	ENST00000303071.5	-	9	1460	c.1394G>C	c.(1393-1395)aGa>aCa	p.R465T	DONSON_ENST00000303113.6_Missense_Mutation_p.R451T|DONSON_ENST00000432378.1_Intron|DONSON_ENST00000453626.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	465					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAATTGGTCTCTGTATCCAGA	0.408																																																	0													149	134	139					21																	34951825		2203	4300	6503	SO:0001583	missense	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1394G>C	21.37:g.34951825C>G	ENSP00000307143:p.Arg465Thr		Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	NULL	p.R465T	ENST00000303071.5	37	c.1394	CCDS13632.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.97|13.97	2.396613|2.396613	0.42512|0.42512	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000437395|ENST00000303113;ENST00000303071	.|.	.|.	.|.	5.82|5.82	-2.38|-2.38	0.06622|0.06622	.|.	.|0.439493	.|0.27956	.|N	.|0.017169	T|T	0.47060|0.47060	0.1425|0.1425	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|B;B	.|0.14805	.|0.011;0.011	.|B;B	.|0.17979	.|0.02;0.02	T|T	0.22208|0.22208	-1.0223|-1.0223	5|9	.|0.18710	.|T	.|0.47	-5.9612|-5.9612	11.4079|11.4079	0.49908|0.49908	0.0:0.442:0.0:0.558|0.0:0.442:0.0:0.558	.|.	.|451;465	.|F8W8A5;Q9NYP3	.|.;DONS_HUMAN	Q|T	436|451;465	.|.	.|ENSP00000307143:R465T	E|R	-|-	1|2	0|0	DONSON|DONSON	33873695|33873695	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.776000|0.776000	0.43924|0.43924	1.356000|1.356000	0.34079|0.34079	-0.697000|-0.697000	0.05092|0.05092	-0.373000|-0.373000	0.07131|0.07131	GAG|AGA	DONSON	-	NULL		0.408	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DONSON	HGNC	protein_coding	OTTHUMT00000141184.1	C	NM_017613		34951825	-1	no_errors	ENST00000303071	ensembl	human	known	70_37	missense	SNP	0.987	G	G	34951825	C	G	34951825	3	3	171	1	0	0	0	0	1	0	0	0	4716	913	32	1	314	1	DONSON	21	34951825	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09		34951825	13178070	218	32539										
SEZ6L	23544	genome.wustl.edu	37	chr22	26688956	26688956	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aacccggggagcctgggcctGacatggcccaggaggccccc	15	16	0	1	rs147999138	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:26688956G>C	ENST00000248933.6	+	2	774	c.679G>C	c.(679-681)Gac>Cac	p.D227H	SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000529632.2_Missense_Mutation_p.D227H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D227H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D227H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D227H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	227					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCTGGGCCTGACATGGCCCA	0.647													G|||	2	0.000399361	0.0015	0	5008	,	,		15571	0		0	False		,,,				2504	0																0								G	HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP	1,4405		0,1,2202	32	36	35		679,679,679,679,679,679	3.3	0	22	dbSNP_134	35	0,8598		0,0,4299	no	missense,missense,missense,missense,missense,missense	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	81,81,81,81,81,81	0,1,6501	CC,CG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	227/1024,227/1014,227/1012,227/950,227/949,227/1025	26688956	1,13003	2203	4299	6502	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.679G>C	22.37:g.26688956G>C	ENSP00000248933:p.Asp227His		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D227H	ENST00000248933.6	37	c.679	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759861	0.31137	2.27E-4	0.0	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.27720	1.89;2.0;2.09;1.89;1.65	4.3	3.26	0.37387	.	0.917339	0.08819	U	0.889089	T	0.25754	0.0627	N	0.08118	0	0.32875	D	0.509754	B;B;P;P;B;B	0.48503	0.41;0.41;0.799;0.911;0.41;0.41	B;B;P;P;B;B	0.47941	0.135;0.135;0.471;0.562;0.191;0.191	T	0.41645	-0.9497	10	0.62326	D	0.03	.	13.9881	0.64348	0.0:0.1533:0.8467:0.0	.	227;227;227;227;227;227	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	227	ENSP00000384772:D227H;ENSP00000437037:D227H;ENSP00000354185:D227H;ENSP00000248933:D227H;ENSP00000342661:D227H	ENSP00000248933:D227H	D	+	1	0	SEZ6L	25018956	0.014000	0.17966	0.003000	0.11579	0.006000	0.05464	1.081000	0.30791	1.098000	0.41479	0.508000	0.49915	GAC	SEZ6L	-	NULL		0.647	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G			26688956	1	no_errors	ENST00000248933	ensembl	human	known	70_37	missense	SNP	0.021	C	C	26688956	G	C	26688956	3	2	171	1	0	0	0	0	1	0	0	0	14173	1290	45	1	685	1	SEZ6L	22	26688956	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		26688956	24615610	219	32540										
ADSL	158	genome.wustl.edu	37	chr22	40745946	40745946	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aaacgtttacgacatgatgtGatggctcacgtgcacacatt	9	9	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:40745946G>A	ENST00000216194.7	+	2	320	c.264G>A	c.(262-264)gtG>gtA	p.V88V	ADSL_ENST00000454266.2_Silent_p.V88V|ADSL_ENST00000342312.6_Silent_p.V88V	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	88					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GACATGATGTGATGGCTCACG	0.463																																					Colon(4;65 130 1097 1516)												0													171	129	143					22																	40745946		2203	4300	6503	SO:0001819	synonymous_variant	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.264G>A	22.37:g.40745946G>A			B0QY76|O75495|Q5TI34	Silent	SNP	pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase	p.V88	ENST00000216194.7	37	c.264	CCDS14001.1	22																																																																																			ADSL	-	superfamily_L-Aspartase-like,tigrfam_Pur_lyase		0.463	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	HGNC	protein_coding	OTTHUMT00000321386.1	G	NM_000026		40745946	1	no_errors	ENST00000454266	ensembl	human	known	70_37	silent	SNP	0.999	A	A	40745946	G	A	40745946	2	1	171	1	0	0	0	0	0	0	0	1	346	1277	45	1		1	ADSL	22	40745946	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	14056990	40745946	10558620	220	32541										
EP300	2033	genome.wustl.edu	37	chr22	41547874	41547874	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aagcattgaaggacaggtatCaaatcctccatctactagta	7	9	2	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:41547874C>G	ENST00000263253.7	+	15	4074	c.2855C>G	c.(2854-2856)tCa>tGa	p.S952*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	952					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGACAGGTATCAAATCCTCCA	0.478			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													103	104	103					22																	41547874		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2855C>G	22.37:g.41547874C>G	ENSP00000263253:p.Ser952*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S952*	ENST00000263253.7	37	c.2855	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	50	16.859398	0.99873	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.52	5.52	0.82312	.	0.000000	0.42821	D	0.000641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-9.6091	19.4296	0.94759	0.0:1.0:0.0:0.0	.	.	.	.	X	952	.	ENSP00000263253:S952X	S	+	2	0	EP300	39877820	0.964000	0.33143	0.985000	0.45067	0.880000	0.50808	4.228000	0.58619	2.587000	0.87381	0.557000	0.71058	TCA	EP300	-	NULL		0.478	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41547874	1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	0.981	G	G	41547874	C	G	41547874	4	3	171	1	0	0	0	0	0	1	0	0	5160	838	29	1	2913	1	EP300	22	41547874	Nonsense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	801928	41547874	9756692	221	32542										
EP300	2033	genome.wustl.edu	37	chr22	41562602	41562602	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	aaagttttggtttacatttaGattcgtctgtgatggctgtt	10	4	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:41562602G>C	ENST00000263253.7	+	23	5025		c.e23-1		RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTACATTTAGATTCGTCTGT	0.289			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													78	74	75					22																	41562602		2202	4295	6497	SO:0001630	splice_region_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3807-1G>C	22.37:g.41562602G>C			B1AKC2	Splice_Site	SNP	-	e23-1	ENST00000263253.7	37	c.3807-1	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702458	0.88924	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1518	0.98089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39892548	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.609000	0.98334	2.769000	0.95229	0.491000	0.48974	.	EP300	-	-		0.289	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429	Intron	41562602	1	no_errors	ENST00000263253	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	41562602	G	C	41562602	5	2	171	1	0	0	0	0	0	0	1	0	5160	956	33	1	3896	1	EP300	22	41562602	Splice_Site	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	14728	41562602	9741964	222	32543										
TTLL8	164714	genome.wustl.edu	37	chr22	50469242	50469242	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcggctgcgcgtccaacagcGaggccgaggccttgaggttg	17	12	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:50469242G>C	ENST00000266182.6	-	12	1819	c.1820C>G	c.(1819-1821)tCg>tGg	p.S607W	TTLL8_ENST00000440475.1_Missense_Mutation_p.S587W			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	623					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTCCAACAGCGAGGCCGAGGC	0.706																																																	0													7	9	8					22																	50469242		1993	4132	6125	SO:0001583	missense	164714					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1820C>G	22.37:g.50469242G>C	ENSP00000266182:p.Ser607Trp		B5MDV0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S607W	ENST00000266182.6	37	c.1820		22	.	.	.	.	.	.	.	.	.	.	g	14.26	2.483183	0.44147	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.05786	3.39;3.51;3.51	4.84	-1.42	0.08913	.	24.946800	0.00166	N	0.000000	T	0.05044	0.0135	N	0.14661	0.345	0.09310	N	1	P	0.46987	0.888	B	0.41764	0.366	T	0.25152	-1.0140	10	0.66056	D	0.02	.	5.5875	0.17283	0.3106:0.0:0.5588:0.1306	.	607	B5MDV0	.	W	607;587;623	ENSP00000266182:S607W;ENSP00000387509:S587W;ENSP00000392252:S623W	ENSP00000266182:S607W	S	-	2	0	TTLL8	48811369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.285000	0.18883	-0.363000	0.08101	-1.966000	0.00469	TCG	TTLL8	-	NULL		0.706	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	HGNC	protein_coding		G	NM_001080447		50469242	-1	no_errors	ENST00000266182	ensembl	human	known	70_37	missense	SNP	0.000	C	C	50469242	G	C	50469242	3	2	171	1	0	0	0	0	1	0	0	0	16764	1059	37	1	695	1	TTLL8	22	50469242	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	8906640	50469242	835324	223	32544										
PANX2	56666	genome.wustl.edu	37	chr22	50615649	50615649	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	actgttaccaccgggcggccGagggccgcgcgcccaagatc	14	16	0	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:50615649G>C	ENST00000395842.2	+	2	508	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	PANX2_ENST00000159647.5_Missense_Mutation_p.E170Q	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	170					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGGGCGGCCGAGGGCCGCGC	0.662																																																	0													18	19	19					22																	50615649		2185	4293	6478	SO:0001583	missense	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.508G>C	22.37:g.50615649G>C	ENSP00000379183:p.Glu170Gln		B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	pfam_Innexin,pfscan_Innexin	p.E170Q	ENST00000395842.2	37	c.508	CCDS14085.2	22	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315637	0.81469	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.33865	1.39;1.39	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.52449	-0.8574	10	0.51188	T	0.08	-1.2506	18.1383	0.89630	0.0:0.0:1.0:0.0	.	170;170	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	Q	170	ENSP00000159647:E170Q;ENSP00000379183:E170Q	ENSP00000159647:E170Q	E	+	1	0	PANX2	48957776	1.000000	0.71417	0.988000	0.46212	0.938000	0.57974	9.557000	0.98129	2.375000	0.81037	0.555000	0.69702	GAG	PANX2	-	pfam_Innexin,pfscan_Innexin		0.662	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX2	HGNC	protein_coding	OTTHUMT00000075010.3	G	NM_052839		50615649	1	no_errors	ENST00000395842	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50615649	G	C	50615649	3	2	171	1	0	0	0	0	1	0	0	0	11445	1059	37	1	514	1	PANX2	22	50615649	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	146407	50615649	688917	224	32545										
DCAF8L2	347442	genome.wustl.edu	37	chrX	27766674	27766674	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	actgagcttactgggttaaaGaaggtgattaagaagaacaa	11	4	0	5			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:27766674G>A	ENST00000451261.2	+	5	2061	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	554										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CTGGGTTAAAGAAGGTGATTA	0.507																																																	0													118	89	98					X																	27766674		692	1591	2283	SO:0001819	synonymous_variant	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1662G>A	X.37:g.27766674G>A			B2RXH9|J3KT06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K554	ENST00000451261.2	37	c.1662	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL		0.507	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	G	XM_293354		27766674	1	no_errors	ENST00000451261	ensembl	human	known	70_37	silent	SNP	0.086	A	A	27766674	G	A	27766674	2	1	171	1	0	0	0	0	0	0	0	1	4283	933	33	1		1	DCAF8L2	23	27766674	Silent	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09		27766674	127503886	225	32546										
MAOB	4129	genome.wustl.edu	37	chrX	43698137	43698137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tacatggtggatcagacgctCaacctcattcactttgtagg	9	10	4	1			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:43698137C>T	ENST00000378069.4	-	3	403	c.256G>A	c.(256-258)Gag>Aag	p.E86K	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Missense_Mutation_p.E70K|MAOB_ENST00000538942.1_Missense_Mutation_p.E70K	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	86					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	ATCAGACGCTCAACCTCATTC	0.423																																																	0													144	121	129					X																	43698137		2203	4300	6503	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.256G>A	X.37:g.43698137C>T	ENSP00000367309:p.Glu86Lys		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.E86K	ENST00000378069.4	37	c.256	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284372	0.80803	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.92348	-3.02;-3.02;-3.02	5.13	4.24	0.50183	Amine oxidase (1);	0.050336	0.85682	D	0.000000	D	0.93595	0.7955	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.64830	0.994;0.991;0.97	P;P;P	0.59948	0.866;0.844;0.844	D	0.92135	0.5715	10	0.35671	T	0.21	-14.7437	13.3996	0.60874	0.0:0.7077:0.2923:0.0	.	70;86;86	B7Z5H3;Q8TBI1;P27338	.;.;AOFB_HUMAN	K	86;70;70	ENSP00000367309:E86K;ENSP00000441613:E70K;ENSP00000442240:E70K	ENSP00000367309:E86K	E	-	1	0	MAOB	43583081	0.997000	0.39634	0.884000	0.34674	0.961000	0.63080	2.864000	0.48404	1.009000	0.39289	0.513000	0.50165	GAG	MAOB	-	pfam_Amino_oxidase		0.423	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	C	NM_000898		43698137	-1	no_errors	ENST00000378069	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43698137	C	T	43698137	3	4	171	1	0	0	0	0	1	0	0	0	9249	835	29	1	1358	1	MAOB	23	43698137	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	15931463	43698137	111572423	226	32547										
CDX4	1046	genome.wustl.edu	37	chrX	72674416	72674416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tacagcaggttatagtctccGaatgaaagaaagcaaagaga	10	6	1	3			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:72674416G>A	ENST00000373514.2	+	3	850	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	284					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TATAGTCTCCGAATGAAAGAA	0.428																																																	0													52	43	46					X																	72674416		2202	4300	6502	SO:0001583	missense	1046			AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.850G>A	X.37:g.72674416G>A	ENSP00000362613:p.Glu284Lys		A1A513|Q5JS20	Missense_Mutation	SNP	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.E284K	ENST00000373514.2	37	c.850	CCDS14424.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971656	0.74246	.	.	ENSG00000131264	ENST00000373514	D	0.94650	-3.48	3.91	3.91	0.45181	.	0.570185	0.17938	N	0.156928	D	0.94768	0.8311	L	0.38175	1.15	0.32273	N	0.568565	D	0.76494	0.999	D	0.70716	0.97	D	0.94318	0.7551	10	0.72032	D	0.01	.	10.9705	0.47436	0.0:0.0:1.0:0.0	.	284	O14627	CDX4_HUMAN	K	284	ENSP00000362613:E284K	ENSP00000362613:E284K	E	+	1	0	CDX4	72591141	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	3.743000	0.55104	1.700000	0.51204	0.429000	0.28392	GAA	CDX4	-	NULL		0.428	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX4	HGNC	protein_coding	OTTHUMT00000057229.2	G	NM_005193		72674416	1	no_errors	ENST00000373514	ensembl	human	known	70_37	missense	SNP	0.997	A	A	72674416	G	A	72674416	3	1	171	1	0	0	0	0	1	0	0	0	3189	1059	37	1	860	1	CDX4	23	72674416	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	28976279	72674416	82596144	227	32548										
ATP7A	538	genome.wustl.edu	37	chrX	77254035	77254035	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	ggaaatgccgcttttgacttCaactaatgaattttatacta	6	7	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:77254035C>T	ENST00000341514.6	+	5	1552	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ATP7A_ENST00000343533.5_Missense_Mutation_p.S466L|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	466					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTTTTGACTTCAACTAATGAA	0.403																																																	0													163	153	156					X																	77254035		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1397C>T	X.37:g.77254035C>T	ENSP00000345728:p.Ser466Leu		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.S466L	ENST00000341514.6	37	c.1397	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	C	6.783	0.513505	0.12944	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.96491	-4.03;-4.0	5.23	5.23	0.72850	.	0.497486	0.19601	N	0.110400	D	0.91054	0.7185	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.15473	0.002;0.013	B;B	0.15484	0.001;0.013	T	0.81134	-0.1071	10	0.34782	T	0.22	-11.4195	7.5658	0.27879	0.2505:0.6664:0.0:0.0831	.	466;476	Q04656;Q59HD1	ATP7A_HUMAN;.	L	466;466;476	ENSP00000343026:S466L;ENSP00000345728:S466L	ENSP00000345728:S466L	S	+	2	0	ATP7A	77140691	0.192000	0.23301	0.506000	0.27664	0.145000	0.21501	1.516000	0.35856	2.315000	0.78130	0.600000	0.82982	TCA	ATP7A	-	NULL		0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	C	NM_000052		77254035	1	no_errors	ENST00000341514	ensembl	human	known	70_37	missense	SNP	0.002	T	T	77254035	C	T	77254035	3	4	171	1	0	0	0	0	1	0	0	0	1191	838	29	1	1411	1	ATP7A	23	77254035	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	4579619	77254035	78016525	228	32549										
MCART6	401612	genome.wustl.edu	37	chrX	103349718	103349718	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gattccccggtagaagtattGaggaccttcatgccaaagct	10	10	1	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:103349718G>C	ENST00000357421.4	-	2	403	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	75					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TAGAAGTATTGAGGACCTTCA	0.488																																																	0													66	61	62					X																	103349718		2203	4300	6503	SO:0001583	missense	401612				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.223C>G	X.37:g.103349718G>C	ENSP00000361681:p.Gln75Glu		B2RTT9	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.Q75E	ENST00000357421.4	37	c.223	CCDS35363.1	X	.	.	.	.	.	.	.	.	.	.	g	9.468	1.094897	0.20471	.	.	ENSG00000176274	ENST00000357421	T	0.78003	-1.14	4.16	3.27	0.37495	Mitochondrial carrier domain (2);	0.702915	0.13565	N	0.378453	T	0.63070	0.2480	L	0.32530	0.975	0.09310	N	1	B	0.22414	0.069	B	0.24541	0.054	T	0.46638	-0.9177	10	0.13108	T	0.6	-7.8249	6.3972	0.21618	0.0:0.2001:0.5902:0.2097	.	75	Q5H9E4	MCAR6_HUMAN	E	75	ENSP00000361681:Q75E	ENSP00000361681:Q75E	Q	-	1	0	MCART6	103236374	0.000000	0.05858	0.999000	0.59377	0.974000	0.67602	0.633000	0.24598	0.862000	0.35528	0.591000	0.81541	CAA	SLC25A53	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.488	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A53	HGNC	protein_coding	OTTHUMT00000057761.1	G	NM_001012755		103349718	-1	no_errors	ENST00000357421	ensembl	human	known	70_37	missense	SNP	0.180	C	C	103349718	G	C	103349718	3	2	171	1	0	0	0	0	1	0	0	0	9394	1299	45	1	704	1	MCART6	23	103349718	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	26095683	103349718	51920842	229	32550										
VSIG1	340547	genome.wustl.edu	37	chrX	107320570	107320570	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cagagcctggggttgtagttGagcccttaagtgaagatgaa	14	6	0	5	rs201525946		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:107320570G>C	ENST00000217957.5	+	7	1240	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	VSIG1_ENST00000415430.3_Missense_Mutation_p.E411Q	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	375						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GGTTGTAGTTGAGCCCTTAAG	0.512																																																	0													101	97	98					X																	107320570		2203	4300	6503	SO:0001583	missense	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.1123G>C	X.37:g.107320570G>C	ENSP00000217957:p.Glu375Gln		C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E411Q	ENST00000217957.5	37	c.1231	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084463	0.36758	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.81163	-1.46;-1.2	4.2	3.33	0.38152	.	7739.230000	0.00166	N	0.000000	T	0.79986	0.4541	L	0.55481	1.735	0.09310	N	1	B;B	0.23058	0.079;0.079	B;B	0.24701	0.031;0.055	T	0.62877	-0.6761	10	0.66056	D	0.02	.	8.9609	0.35847	0.0:0.2205:0.7795:0.0	.	411;375	C9J4P2;Q86XK7	.;VSIG1_HUMAN	Q	411;375	ENSP00000402219:E411Q;ENSP00000217957:E375Q	ENSP00000217957:E375Q	E	+	1	0	VSIG1	107207226	0.073000	0.21202	0.022000	0.16811	0.123000	0.20343	1.301000	0.33447	1.104000	0.41587	0.513000	0.50165	GAG	VSIG1	-	NULL		0.512	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	G	NM_182607		107320570	1	no_errors	ENST00000415430	ensembl	human	known	70_37	missense	SNP	0.155	C	C	107320570	G	C	107320570	3	2	171	1	0	0	0	0	1	0	0	0	17253	1291	45	1	1261	1	VSIG1	23	107320570	Missense_Mutation	SNP	G	TCGA-LP-A5U2-01A-11D-A28B-09	3970852	107320570	47949990	230	32551										
DOCK11	139818	genome.wustl.edu	37	chrX	117748713	117748713	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	tttaataaatgactatatatCtggattcagccccaaagatc	5	8	2	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:117748713C>T	ENST00000276202.7	+	29	3218	c.3155C>T	c.(3154-3156)tCt>tTt	p.S1052F	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1052F	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1052					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GACTATATATCTGGATTCAGC	0.328																																																	0													77	83	81					X																	117748713		2202	4293	6495	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3155C>T	X.37:g.117748713C>T	ENSP00000276202:p.Ser1052Phe		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1052F	ENST00000276202.7	37	c.3155	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630962	0.67015	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.66995	-0.24;-0.24	5.39	5.39	0.77823	.	0.103697	0.64402	D	0.000002	T	0.81039	0.4740	M	0.81341	2.54	0.40892	D	0.984081	D;D	0.65815	0.995;0.995	P;P	0.59703	0.862;0.862	T	0.83255	-0.0051	10	0.51188	T	0.08	-9.5646	18.4127	0.90558	0.0:1.0:0.0:0.0	.	1052;1052	A6NIW2;Q5JSL3	.;DOC11_HUMAN	F	1052	ENSP00000276204:S1052F;ENSP00000276202:S1052F	ENSP00000276202:S1052F	S	+	2	0	DOCK11	117632741	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.616000	0.46376	2.376000	0.81061	0.544000	0.68410	TCT	DOCK11	-	NULL		0.328	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	C	NM_144658		117748713	1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	T	T	117748713	C	T	117748713	3	4	171	1	0	0	0	0	1	0	0	0	4696	913	32	1	3269	1	DOCK11	23	117748713	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	10428143	117748713	37521847	231	32552										
KIAA1210	57481	genome.wustl.edu	37	chrX	118242373	118242373	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	gcacagctcctgacatggctCcagacacaactccaggaacc	8	16	0	2			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:118242373C>G	ENST00000402510.2	-	6	838	c.839G>C	c.(838-840)gGa>gCa	p.G280A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	280										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGACATGGCTCCAGACACAAC	0.463																																																	0													115	108	110					X																	118242373		1969	4158	6127	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.839G>C	X.37:g.118242373C>G	ENSP00000384670:p.Gly280Ala		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.G280A	ENST00000402510.2	37	c.839	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	9.186	1.024740	0.19433	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10477	2.87	3.24	0.00698	0.14069	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	P	0.50943	0.94	P	0.46275	0.51	T	0.21109	-1.0255	9	0.44086	T	0.13	.	1.0954	0.01672	0.22:0.4138:0.2123:0.154	.	280	Q9ULL0	K1210_HUMAN	A	280;116	ENSP00000384670:G280A	ENSP00000396164:G116A	G	-	2	0	RP13-347D8.5;RP13-347D8.6	118126401	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.542000	0.06091	-0.119000	0.11830	-0.380000	0.06706	GGA	KIAA1210	-	NULL		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	C	NM_020721		118242373	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	missense	SNP	0.001	G	G	118242373	C	G	118242373	3	3	171	1	0	0	0	0	1	0	0	0	8234	855	30	1	4326	1	KIAA1210	23	118242373	Missense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	493660	118242373	37028187	232	32553										
BRS3	680	genome.wustl.edu	37	chrX	135574218	135574218	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.603448275862069	140	1.42419931189809e-57	4.30117142090673	4.893636699963	3.74675437078068	0.123962136748219	0.312320188690318	107	cctcctgtacctctaccattCattcacttctcaaacctatg	2	16	4	0			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:135574218C>G	ENST00000370648.3	+	3	1112	c.884C>G	c.(883-885)tCa>tGa	p.S295*		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	295					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTCTACCATTCATTCACTTCT	0.453																																																	0													255	210	225					X																	135574218		2203	4300	6503	SO:0001587	stop_gained	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.884C>G	X.37:g.135574218C>G	ENSP00000359682:p.Ser295*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S295*	ENST00000370648.3	37	c.884	CCDS14656.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.155355	0.97329	.	.	ENSG00000102239	ENST00000370648	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-7.9799	18.67	0.91507	0.0:1.0:0.0:0.0	.	.	.	.	X	295	.	ENSP00000359682:S295X	S	+	2	0	BRS3	135401884	1.000000	0.71417	0.984000	0.44739	0.512000	0.34134	7.445000	0.80570	2.439000	0.82584	0.600000	0.82982	TCA	BRS3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.453	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	HGNC	protein_coding	OTTHUMT00000059005.1	C	NM_001727		135574218	1	no_errors	ENST00000370648	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	135574218	C	G	135574218	4	3	171	1	0	0	0	0	0	1	0	0	1525	838	29	1	894	1	BRS3	23	135574218	Nonsense_Mutation	SNP	C	TCGA-LP-A5U2-01A-11D-A28B-09	17331845	135574218	19696342	233	32554										
ARHGEF10L	55160	genome.wustl.edu	37	chr1	17914042	17914042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tgagtttgatgacagtgatgAtgaagaggacaccagcgcag	14	6	0	7			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:17914042A>G	ENST00000361221.3	+	3	284	c.125A>G	c.(124-126)gAt>gGt	p.D42G	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D42G|ARHGEF10L_ENST00000375420.3_5'Flank|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D42G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D42G	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	42						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACAGTGATGATGAAGAGGAC	0.597																																																	0													144	157	152					1																	17914042		2203	4300	6503	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.125A>G	1.37:g.17914042A>G	ENSP00000355060:p.Asp42Gly		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.D42G	ENST00000361221.3	37	c.125	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.335706	0.60853	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.61510	0.29;0.23;0.1;0.23	5.34	5.34	0.76211	.	0.398936	0.22917	N	0.054070	T	0.47451	0.1446	N	0.24115	0.695	0.80722	D	1	P;B;B;P	0.37370	0.592;0.361;0.361;0.457	B;B;B;B	0.40329	0.326;0.163;0.163;0.112	T	0.53408	-0.8443	10	0.72032	D	0.01	-1.0576	11.9784	0.53105	1.0:0.0:0.0:0.0	.	42;42;42;42	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	G	42	ENSP00000355060:D42G;ENSP00000399401:D42G;ENSP00000394621:D42G;ENSP00000364564:D42G	ENSP00000355060:D42G	D	+	2	0	ARHGEF10L	17786629	0.999000	0.42202	0.999000	0.59377	0.995000	0.86356	4.194000	0.58393	2.156000	0.67533	0.533000	0.62120	GAT	ARHGEF10L	-	NULL		0.597	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	A	NM_018125		17914042	1	no_errors	ENST00000361221	ensembl	human	known	70_37	missense	SNP	0.998	G	G	17914042	A	G	17914042	3	3	172	1	0	0	0	0	1	0	0	0	895	333	12	5	131	5	ARHGEF10L	1	17914042	Missense_Mutation	SNP	A	TCGA-LP-A5U3-01A-11D-A28B-09		17914042	231336579	1	32555										
WDTC1	23038	genome.wustl.edu	37	chr1	27608762	27608762	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tgtgtcaactgtctggagtgGaatgagaaaggagagtaagt	15	3	2	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:27608762G>A	ENST00000319394.3	+	4	700	c.165G>A	c.(163-165)tgG>tgA	p.W55*	WDTC1_ENST00000361771.3_Nonsense_Mutation_p.W55*	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	55					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GTCTGGAGTGGAATGAGAAAG	0.527																																																	0													111	97	101					1																	27608762		2203	4300	6503	SO:0001587	stop_gained	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.165G>A	1.37:g.27608762G>A	ENSP00000317971:p.Trp55*		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W55*	ENST00000319394.3	37	c.165		1	.	.	.	.	.	.	.	.	.	.	G	39	7.653529	0.98412	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	17.1641	0.86810	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000317971:W55X	W	+	3	0	WDTC1	27481349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.976000	0.93442	2.612000	0.88384	0.655000	0.94253	TGG	WDTC1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.527	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		G	NM_015023		27608762	1	no_errors	ENST00000319394	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27608762	G	A	27608762	4	1	172	1	0	0	0	0	0	1	0	0	17373	1183	41	1	175	1	WDTC1	1	27608762	Nonsense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	9694720	27608762	221641859	2	32556										
CCDC28B	79140	genome.wustl.edu	37	chr1	32669616	32669616	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	gactcctgaacctgctcaatGatttccactctggccggctg	9	14	2	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:32669616G>T	ENST00000373602.5	+	3	648	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_5'Flank|CCDC28B_ENST00000483009.1_3'UTR|CCDC28B_ENST00000421922.2_Missense_Mutation_p.D101Y	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	101					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTGCTCAATGATTTCCACTC	0.622																																																	0													61	59	59					1																	32669616		2203	4300	6503	SO:0001583	missense	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.301G>T	1.37:g.32669616G>T	ENSP00000362704:p.Asp101Tyr		A8K789|Q8TBV8	Missense_Mutation	SNP	NULL	p.D101Y	ENST00000373602.5	37	c.301	CCDS354.2	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932563	0.92458	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.62639	0.09;0.01	5.52	5.52	0.82312	.	0.091863	0.64402	D	0.000001	T	0.81875	0.4915	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	D	0.83775	0.0222	10	0.87932	D	0	3.6348	19.7968	0.96490	0.0:0.0:1.0:0.0	.	101;101	Q9BUN5;E9PM81	CC28B_HUMAN;.	Y	101	ENSP00000362704:D101Y;ENSP00000413017:D101Y	ENSP00000362704:D101Y	D	+	1	0	CCDC28B	32442203	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.628000	0.98415	2.764000	0.94973	0.561000	0.74099	GAT	CCDC28B	-	NULL		0.622	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28B	HGNC	protein_coding	OTTHUMT00000015723.4	G	NM_024296		32669616	1	no_errors	ENST00000373602	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32669616	G	T	32669616	3	4	172	1	0	0	0	0	1	0	0	0	2808	1290	45	3	307	3	CCDC28B	1	32669616	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	5060854	32669616	216581005	3	32557										
GNAI3	2773	genome.wustl.edu	37	chr1	110128858	110128858	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	gatgtttgatgtaggtggccAaagatcagaacgaaaaaagt	12	4	1	3			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:110128858A>G	ENST00000369851.4	+	6	721	c.611A>G	c.(610-612)cAa>cGa	p.Q204R		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GTAGGTGGCCAAAGATCAGAA	0.448																																																	0													250	202	218					1																	110128858		2203	4300	6503	SO:0001583	missense	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.611A>G	1.37:g.110128858A>G	ENSP00000358867:p.Gln204Arg		P17539|Q5TZX1	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.Q204R	ENST00000369851.4	37	c.611	CCDS802.1	1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.955174	0.92726	.	.	ENSG00000065135	ENST00000369851	D	0.91011	-2.77	5.02	5.02	0.67125	.	0.104658	0.64402	D	0.000003	D	0.96172	0.8752	H	0.94385	3.53	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.97357	0.9967	10	0.87932	D	0	.	14.7149	0.69259	1.0:0.0:0.0:0.0	.	204	P08754	GNAI3_HUMAN	R	204	ENSP00000358867:Q204R	ENSP00000358867:Q204R	Q	+	2	0	GNAI3	109930381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.014000	0.59158	0.477000	0.44152	CAA	GNAI3	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.448	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	HGNC	protein_coding	OTTHUMT00000032222.1	A	NM_006496		110128858	1	no_errors	ENST00000369851	ensembl	human	known	70_37	missense	SNP	1.000	G	G	110128858	A	G	110128858	3	3	172	1	0	0	0	0	1	0	0	0	6525	130	5	5	633	5	GNAI3	1	110128858	Missense_Mutation	SNP	A	TCGA-LP-A5U3-01A-11D-A28B-09	77459242	110128858	139121763	4	32558										
SPRR1B	6699	genome.wustl.edu	37	chr1	153004864	153004864	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	agccttgcaccccaccccctCagcttcagcagcagcaggtg	9	18	2	0			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:153004864C>T	ENST00000307098.4	+	2	108	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	SPRR1B_ENST00000392661.3_Nonsense_Mutation_p.Q15*	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	15	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCACCCCCTCAGCTTCAGCA	0.567																																																	0													141	137	139					1																	153004864		2203	4300	6503	SO:0001587	stop_gained	6699			M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"cornifin"	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.43C>T	1.37:g.153004864C>T	ENSP00000306461:p.Gln15*		B2R5H7|P22529|P22530|Q5T524	Nonsense_Mutation	SNP	pfam_Cornifin	p.Q15*	ENST00000307098.4	37	c.43	CCDS30863.1	1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789218	0.70337	.	.	ENSG00000169469	ENST00000307098;ENST00000392661	.	.	.	3.66	0.541	0.17168	.	.	.	.	.	.	.	.	.	.	.	0.44562	A	0.997524	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.0325	6.8603	0.24064	0.1904:0.4392:0.3704:0.0	.	.	.	.	X	15	.	ENSP00000306461:Q15X	Q	+	1	0	SPRR1B	151271488	0.007000	0.16637	0.002000	0.10522	0.965000	0.64279	0.342000	0.19926	0.129000	0.18514	0.655000	0.94253	CAG	SPRR1B	-	NULL		0.567	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR1B	HGNC	protein_coding	OTTHUMT00000038906.1	C	NM_003125		153004864	1	no_errors	ENST00000307098	ensembl	human	known	70_37	nonsense	SNP	0.003	T	T	153004864	C	T	153004864	4	4	172	1	0	0	0	0	0	1	0	0	15126	827	29	1	45	1	SPRR1B	1	153004864	Nonsense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	42876006	153004864	96245757	5	32559										
ZNF238	10472	genome.wustl.edu	37	chr1	244217392	244217392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	aagacttgcccattgaagacGtgctagcagctgccagttat	10	10	0	3			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr1:244217392G>T	ENST00000358704.4	+	2	465	c.316G>T	c.(316-318)Gtg>Ttg	p.V106L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	97					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTGAAGACGTGCTAGCAGC	0.468																																																	0													71	71	71					1																	244217392		2203	4300	6503	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.316G>T	1.37:g.244217392G>T	ENSP00000351539:p.Val106Leu		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V106L	ENST00000358704.4	37	c.316	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407110	0.83230	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.66995	-0.24	5.12	5.12	0.69794	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	L	0.31578	0.945	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.78314	0.991;0.991;0.978	T	0.78188	-0.2301	10	0.87932	D	0	.	18.563	0.91107	0.0:0.0:1.0:0.0	.	106;97;106	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	L	106	ENSP00000351539:V106L	ENSP00000351539:V106L	V	+	1	0	ZNF238	242284015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.397000	0.81536	0.655000	0.94253	GTG	ZNF238	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.468	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217392	1	no_errors	ENST00000358704	ensembl	human	known	70_37	missense	SNP	1.000	T	T	244217392	G	T	244217392	3	4	172	1	0	0	0	0	1	0	0	0	17820	1145	40	2	322	2	ZNF238	1	244217392	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	91212528	244217392	5033229	6	32560										
RGPD3	653489	genome.wustl.edu	37	chr2	107032375	107032375	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	aggccgtttaagtgatctgcActttttgtggtggaactgag	13	6	1	2	rs577151300		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr2:107032375A>T	ENST00000409886.3	-	21	5082	c.4995T>A	c.(4993-4995)agT>agA	p.S1665R	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1665R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1665					protein targeting to Golgi (GO:0000042)			p.S1665R(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGTGATCTGCACTTTTTGTGG	0.403																																																	2	Substitution - Missense(2)	lung(2)											54	55	55					2																	107032375		692	1590	2282	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4995T>A	2.37:g.107032375A>T	ENSP00000386588:p.Ser1665Arg		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1665R	ENST00000409886.3	37	c.4995	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	5.476	0.272922	0.10349	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.38722	1.12;1.12	0.701	0.701	0.18104	.	.	.	.	.	T	0.18215	0.0437	N	0.08118	0	0.24222	N	0.995435	B	0.24576	0.106	B	0.15484	0.013	T	0.15065	-1.0450	9	0.42905	T	0.14	-1.18	2.7306	0.05226	0.6703:0.0:0.3297:0.0	.	1665	A6NKT7	RGPD3_HUMAN	R	39;1665;1032;1665	ENSP00000386588:S1665R;ENSP00000303659:S1665R	ENSP00000303659:S1665R	S	-	3	2	RGPD3	106398807	1.000000	0.71417	0.995000	0.50966	0.348000	0.29142	0.832000	0.27490	0.561000	0.29186	0.138000	0.15974	AGT	RGPD3	-	NULL		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	A	XM_929931		107032375	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	missense	SNP	0.999	T	T	107032375	A	T	107032375	3	4	172	1	0	0	0	0	1	0	0	0	13317	156	6	5	293	5	RGPD3	2	107032375	Missense_Mutation	SNP	A	TCGA-LP-A5U3-01A-11D-A28B-09		107032375	136166998	7	32561										
MRPL44	65080	genome.wustl.edu	37	chr2	224824575	224824575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ggtgaggaagtcgtgtgtcaCgtggctagaaacttggctgt	16	6	1	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr2:224824575C>T	ENST00000258383.3	+	2	573	c.504C>T	c.(502-504)caC>caT	p.H168H		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	168	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCGTGTGTCACGTGGCTAGAA	0.478																																																	0													107	106	107					2																	224824575		2203	4300	6503	SO:0001819	synonymous_variant	65080			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.504C>T	2.37:g.224824575C>T			Q53S16|Q6IA62|Q9H821	Silent	SNP	superfamily_RNase_III_dom,pfscan_Ds-RNA-bd	p.H168	ENST00000258383.3	37	c.504	CCDS2459.1	2																																																																																			MRPL44	-	superfamily_RNase_III_dom		0.478	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL44	HGNC	protein_coding	OTTHUMT00000256866.2	C	NM_022915		224824575	1	no_errors	ENST00000258383	ensembl	human	known	70_37	silent	SNP	0.046	T	T	224824575	C	T	224824575	2	4	172	1	0	0	0	0	0	0	0	1	9831	535	19	2		2	MRPL44	2	224824575	Silent	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	117792200	224824575	18374798	8	32562										
SLC22A13	9390	genome.wustl.edu	37	chr3	38315826	38315826	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	agtcagtgttcatggctgggCtccttgttggcaccctcatg	12	11	3	0	rs555869760		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr3:38315826C>G	ENST00000311856.4	+	2	491	c.442C>G	c.(442-444)Ctc>Gtc	p.L148V	SLC22A13_ENST00000450935.2_Missense_Mutation_p.L107V	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	148					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CATGGCTGGGCTCCTTGTTGG	0.597																																																	0													204	176	185					3																	38315826		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.442C>G	3.37:g.38315826C>G	ENSP00000310241:p.Leu148Val		B2RCV9|Q8IYG1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L148V	ENST00000311856.4	37	c.442	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835349	0.50951	.	.	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.58797	0.31;1.05	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	N	0.25380	0.74	0.36289	D	0.856295	D;D	0.54601	0.959;0.967	P;P	0.58391	0.749;0.838	T	0.52510	-0.8566	10	0.02654	T	1	.	17.4309	0.87539	0.0:1.0:0.0:0.0	.	148;148	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	V	148;107	ENSP00000310241:L148V;ENSP00000406929:L107V	ENSP00000310241:L148V	L	+	1	0	SLC22A13	38290830	0.533000	0.26354	0.919000	0.36401	0.143000	0.21401	1.169000	0.31871	2.525000	0.85131	0.650000	0.86243	CTC	SLC22A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.597	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	C	NM_004256		38315826	1	no_errors	ENST00000311856	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38315826	C	G	38315826	3	3	172	1	0	0	0	0	1	0	0	0	14474	797	28	4	448	4	SLC22A13	3	38315826	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09		38315826	159706604	9	32563										
MAGI1	9223	genome.wustl.edu	37	chr3	65365084	65365084	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ccgccgccactgccgatgccGctggtgctgccgctgcccga	13	19	0	0			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr3:65365084G>C	ENST00000497477.2	-	17	2846	c.2847C>G	c.(2845-2847)agC>agG	p.S949R	MAGI1_ENST00000483466.1_Missense_Mutation_p.S977R|MAGI1_ENST00000330909.8_Missense_Mutation_p.S977R|MAGI1_ENST00000402939.2_Missense_Mutation_p.S949R			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	977					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		tgccgatgccgctggtgctgc	0.697																																																	0													31	32	31					3																	65365084		2203	4300	6503	SO:0001583	missense	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2847C>G	3.37:g.65365084G>C	ENSP00000424369:p.Ser949Arg		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.S949R	ENST00000497477.2	37	c.2847		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.08|17.08	3.298848|3.298848	0.60195|0.60195	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.19250	.|2.58;2.21;2.22;2.22;2.16;2.23	5.33|5.33	-1.84|-1.84	0.07809|0.07809	.|.	.|0.366898	.|0.31809	.|N	.|0.007029	T|T	0.19005|0.19005	0.0456|0.0456	L|L	0.36672|0.36672	1.1|1.1	0.52099|0.52099	D|D	0.999949|0.999949	.|B;P;P;P;P	.|0.45531	.|0.208;0.828;0.86;0.609;0.605	.|B;P;B;B;B	.|0.48425	.|0.232;0.577;0.442;0.357;0.442	T|T	0.02877|0.02877	-1.1099|-1.1099	5|10	.|0.23891	.|T	.|0.37	-6.3013|-6.3013	11.7381|11.7381	0.51778|0.51778	0.5582:0.0:0.4418:0.0|0.5582:0.0:0.4418:0.0	.|.	.|977;949;977;949;977	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	G|R	858|949;977;873;852;977;949;735	.|ENSP00000385450:S949R;ENSP00000331157:S977R;ENSP00000418177:S852R;ENSP00000420323:S977R;ENSP00000424369:S949R;ENSP00000420796:S735R	.|ENSP00000331157:S977R	A|S	-|-	2|3	0|2	MAGI1|MAGI1	65340124|65340124	0.459000|0.459000	0.25768|0.25768	0.994000|0.994000	0.49952|0.49952	0.896000|0.896000	0.52359|0.52359	-0.308000|-0.308000	0.08156|0.08156	-0.232000|-0.232000	0.09811|0.09811	0.460000|0.460000	0.39030|0.39030	GCG|AGC	MAGI1	-	NULL		0.697	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	G	NM_004742		65365084	-1	no_errors	ENST00000402939	ensembl	human	known	70_37	missense	SNP	0.986	C	C	65365084	G	C	65365084	3	2	172	1	0	0	0	0	1	0	0	0	9213	1078	38	2	1715	2	MAGI1	3	65365084	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	27049258	65365084	132657346	10	32564										
CPZ	8532	genome.wustl.edu	37	chr4	8608555	8608555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ggacctgacgtccgagtactAccggctggcggagacccgcg	15	14	0	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr4:8608555A>G	ENST00000360986.4	+	6	1172	c.998A>G	c.(997-999)tAc>tGc	p.Y333C	CPZ_ENST00000315782.6_Missense_Mutation_p.Y322C|CPZ_ENST00000382480.2_Missense_Mutation_p.Y196C|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	333					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCCGAGTACTACCGGCTGGCG	0.647																																																	0													51	49	49					4																	8608555		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.998A>G	4.37:g.8608555A>G	ENSP00000354255:p.Tyr333Cys		O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.Y333C	ENST00000360986.4	37	c.998	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	a	15.90	2.969826	0.53614	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.10763	2.84;2.84;2.84	3.46	3.46	0.39613	Peptidase M14, carboxypeptidase A (2);	0.070923	0.64402	U	0.000017	T	0.32971	0.0847	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.17623	-1.0363	10	0.87932	D	0	-35.6179	12.138	0.53982	1.0:0.0:0.0:0.0	.	322;333	Q66K79-2;Q66K79	.;CBPZ_HUMAN	C	333;196;322	ENSP00000354255:Y333C;ENSP00000371920:Y196C;ENSP00000315074:Y322C	ENSP00000315074:Y322C	Y	+	2	0	CPZ	8659455	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	6.405000	0.73272	1.438000	0.47492	0.370000	0.22315	TAC	CPZ	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.647	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	A	NM_003652		8608555	1	no_errors	ENST00000360986	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8608555	A	G	8608555	3	3	172	1	0	0	0	0	1	0	0	0	3844	391	14	5	1020	5	CPZ	4	8608555	Missense_Mutation	SNP	A	TCGA-LP-A5U3-01A-11D-A28B-09		8608555	182545721	11	32565										
C4orf21	55345	genome.wustl.edu	37	chr4	113541344	113541344	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tctaagtcatctccaggtttCacctgaaagaataaatgtca	6	9	5	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr4:113541344C>T	ENST00000505019.1	-	5	290	c.165G>A	c.(163-165)gtG>gtA	p.V55V	C4orf21_ENST00000309071.5_Silent_p.V55V|C4orf21_ENST00000445203.2_Silent_p.V24V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		55						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTCCAGGTTTCACCTGAAAGA	0.348																																																	0													67	65	65					4																	113541344		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.165G>A	4.37:g.113541344C>T			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.V55	ENST00000505019.1	37	c.165		4																																																																																			C4orf21	-	pfam_DUF2439		0.348	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113541344	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113541344	C	T	113541344	2	4	172	1	0	0	0	0	0	0	0	1	2259	813	29	1		1	C4orf21	4	113541344	Silent	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	104932789	113541344	77612932	12	32566										
GUCY1A3	2982	genome.wustl.edu	37	chr4	156632318	156632318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	gactccaaaaatcaaccagaCgtttagcgggatcatgacta	8	10	2	2	rs139274399		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr4:156632318C>T	ENST00000296518.7	+	6	1210	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.T76M|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.T334M|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.T334M|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.T334M|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.T334M|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.T334M			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	334					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATCAACCAGACGTTTAGCGGG	0.388																																																	0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	79	81	80		1001,1001,1001,1001,296,1001,1001	4.9	0	4	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130686.1,NM_001130687.1	81,81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	334/691,334/691,334/691,334/691,99/456,334/367,334/625	156632318	1,13005	2203	4300	6503	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1001C>T	4.37:g.156632318C>T	ENSP00000296518:p.Thr334Met		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.T334M	ENST00000296518.7	37	c.1001	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988120	0.53934	0.0	1.16E-4	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.76	4.91	0.64330	Haem NO binding associated (1);	0.089115	0.48767	D	0.000166	D	0.94739	0.8302	M	0.84948	2.725	0.26334	N	0.977476	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.971;0.971;0.971	D	0.90118	0.4197	10	0.72032	D	0.01	.	16.6591	0.85236	0.1308:0.8692:0.0:0.0	.	334;334;334	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	M	334;334;334;334;76;334;334	ENSP00000424361:T334M;ENSP00000421493:T334M;ENSP00000426968:T334M;ENSP00000412201:T334M;ENSP00000377418:T76M;ENSP00000296518:T334M;ENSP00000426040:T334M	ENSP00000296518:T334M	T	+	2	0	GUCY1A3	156851768	0.947000	0.32204	0.030000	0.17652	0.856000	0.48823	2.751000	0.47508	1.566000	0.49654	0.643000	0.83706	ACG	GUCY1A3	-	pfam_Haem_no_assoc-bd		0.388	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	C			156632318	1	no_errors	ENST00000296518	ensembl	human	known	70_37	missense	SNP	0.315	T	T	156632318	C	T	156632318	3	4	172	1	0	0	0	0	1	0	0	0	6914	536	19	2	1015	2	GUCY1A3	4	156632318	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	43090974	156632318	34521958	13	32567										
SAR1B	51128	genome.wustl.edu	37	chr5	133944129	133944129	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	cttcactgatggcttcaggtCtgtcgatcttattcccaaga	8	11	4	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr5:133944129C>T	ENST00000402673.2	-	6	691	c.413G>A	c.(412-414)aGa>aAa	p.R138K	SAR1B_ENST00000502539.1_Missense_Mutation_p.R70K|SAR1B_ENST00000439578.1_Missense_Mutation_p.R138K|SAR1B_ENST00000509937.1_Missense_Mutation_p.R70K|SAR1B_ENST00000507419.1_Missense_Mutation_p.R70K	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	138					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCTTCAGGTCTGTCGATCTT	0.353																																																	0													108	95	99					5																	133944129		2203	4300	6503	SO:0001583	missense	51128			AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"SAR1a gene homolog (S. cerevisiae) 2", "SAR1a gene homolog 2 (S. cerevisiae)", "SAR1 homolog B (S. cerevisiae)"	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.413G>A	5.37:g.133944129C>T	ENSP00000385432:p.Arg138Lys		D3DQA4|Q567T4	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R138K	ENST00000402673.2	37	c.413	CCDS4177.1	5	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336556	0.24253	.	.	ENSG00000152700	ENST00000394992;ENST00000402673;ENST00000507419;ENST00000502539;ENST00000439578;ENST00000509937;ENST00000509730;ENST00000505758	D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.56	5.56	0.83823	Small GTP-binding protein domain (1);	0.040079	0.85682	D	0.000000	T	0.66127	0.2758	N	0.04148	-0.265	0.58432	D	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.64136	-0.6478	10	0.06236	T	0.91	-8.58	19.9052	0.97004	0.0:1.0:0.0:0.0	.	138	Q9Y6B6	SAR1B_HUMAN	K	70;138;70;70;138;70;70;138	ENSP00000385432:R138K;ENSP00000425339:R70K;ENSP00000426335:R70K;ENSP00000404997:R138K;ENSP00000424673:R70K;ENSP00000423197:R70K;ENSP00000425466:R138K	ENSP00000378443:R70K	R	-	2	0	SAR1B	133972028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.812000	0.69194	2.776000	0.95493	0.655000	0.94253	AGA	SAR1B	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Small_GTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.353	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAR1B	HGNC	protein_coding	OTTHUMT00000251158.2	C	NM_016103		133944129	-1	no_errors	ENST00000402673	ensembl	human	known	70_37	missense	SNP	1.000	T	T	133944129	C	T	133944129	3	4	172	1	0	0	0	0	1	0	0	0	13870	913	32	1	191	1	SAR1B	5	133944129	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09		133944129	46971131	14	32568										
FAM13B	51306	genome.wustl.edu	37	chr5	137323214	137323214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	attattacacaccacactttGctgttgtaaattcttaagat	4	8	1	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr5:137323214G>T	ENST00000033079.3	-	9	1433	c.982C>A	c.(982-984)Caa>Aaa	p.Q328K	FAM13B_ENST00000425075.2_Missense_Mutation_p.Q210K|FAM13B_ENST00000420893.2_Missense_Mutation_p.Q328K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	328					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						ACCACACTTTGCTGTTGTAAA	0.328																																																	0													111	97	102					5																	137323214		2203	4299	6502	SO:0001583	missense	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.982C>A	5.37:g.137323214G>T	ENSP00000033079:p.Gln328Lys		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q328K	ENST00000033079.3	37	c.982	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	G	3.700	-0.061761	0.07317	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.22134	3.11;1.97;3.1	5.38	4.48	0.54585	.	0.566447	0.18764	N	0.131806	T	0.15392	0.0371	L	0.34521	1.04	0.35370	D	0.78896	B;B;B	0.23249	0.082;0.006;0.02	B;B;B	0.24394	0.053;0.015;0.014	T	0.08146	-1.0736	10	0.05833	T	0.94	-4.2131	14.213	0.65776	0.0:0.1492:0.8508:0.0	.	210;328;328	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	K	328;210;328	ENSP00000033079:Q328K;ENSP00000394669:Q210K;ENSP00000388521:Q328K	ENSP00000033079:Q328K	Q	-	1	0	FAM13B	137351113	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.050000	0.57404	1.206000	0.43276	0.650000	0.86243	CAA	FAM13B	-	NULL		0.328	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	G			137323214	-1	no_errors	ENST00000033079	ensembl	human	known	70_37	missense	SNP	0.998	T	T	137323214	G	T	137323214	3	4	172	1	0	0	0	0	1	0	0	0	5468	1328	46	4	1895	4	FAM13B	5	137323214	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	3379085	137323214	43592046	15	32569										
TCERG1	10915	genome.wustl.edu	37	chr5	145849278	145849278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tagaacattagaatcaacctGggaaaaaccccaagaactaa	6	9	1	3			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr5:145849278G>T	ENST00000296702.5	+	7	1408	c.1370G>T	c.(1369-1371)tGg>tTg	p.W457L	TCERG1_ENST00000394421.2_Missense_Mutation_p.W436L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	457	Glu-rich.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATCAACCTGGGAAAAACCC	0.328																																																	0													50	60	57					5																	145849278		2197	4296	6493	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1370G>T	5.37:g.145849278G>T	ENSP00000296702:p.Trp457Leu		Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.W457L	ENST00000296702.5	37	c.1370	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976360	0.74360	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.97710	-4.5;-4.5	5.71	5.71	0.89125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.98998	0.9658	M	0.90252	3.1	0.80722	D	1	D;D;D	0.69078	0.997;0.981;0.985	D;D;D	0.81914	0.995;0.954;0.973	D	0.99497	1.0952	10	0.72032	D	0.01	-6.2202	19.8493	0.96733	0.0:0.0:1.0:0.0	.	436;436;457	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	L	457;436	ENSP00000296702:W457L;ENSP00000377943:W436L	ENSP00000296702:W457L	W	+	2	0	TCERG1	145829471	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	TGG	TCERG1	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.328	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	G	NM_001040006		145849278	1	no_errors	ENST00000296702	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145849278	G	T	145849278	3	4	172	1	0	0	0	0	1	0	0	0	15715	1357	47	4	1396	4	TCERG1	5	145849278	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	8526064	145849278	35065982	16	32570										
ABLIM3	22885	genome.wustl.edu	37	chr5	148622102	148622102	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	cccgatctacaaacggcatgGtatggtcagaggtagatagg	13	8	2	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr5:148622102G>T	ENST00000506113.1	+	14	1833		c.e14+1		ABLIM3_ENST00000326685.7_Splice_Site|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000309868.7_Splice_Site|ABLIM3_ENST00000517451.1_5'Flank|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000508983.1_Splice_Site|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGGCATGGTATGGTCAGA	0.567																																																	0													128	116	120					5																	148622102		2203	4300	6503	SO:0001630	splice_region_variant	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1351+1G>T	5.37:g.148622102G>T			A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Splice_Site	SNP	-	e14+1	ENST00000506113.1	37	c.1351+1	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894830	0.72639	.	.	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983	.	.	.	5.31	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6369	0.68696	0.0711:0.0:0.9289:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABLIM3	148602295	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.359000	0.97115	1.361000	0.45981	0.591000	0.81541	.	ABLIM3	-	-		0.567	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1	G	NM_014945	Intron	148622102	1	no_errors	ENST00000309868	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	148622102	G	T	148622102	5	4	172	1	0	0	0	0	0	0	1	0	96	1275	44	4	1406	4	ABLIM3	5	148622102	Splice_Site	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	2772824	148622102	32293158	17	32571										
SLC29A1	2030	genome.wustl.edu	37	chr6	44197647	44197647	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ttggcctctcccggcaggatCccccagtccgtacggatcct	10	17	1	0			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr6:44197647C>T	ENST00000393841.1	+	6	809	c.318C>T	c.(316-318)atC>atT	p.I106I	SLC29A1_ENST00000393844.1_Silent_p.I106I|SLC29A1_ENST00000313248.7_Silent_p.I185I|SLC29A1_ENST00000371731.1_Silent_p.I106I|SLC29A1_ENST00000371708.1_Silent_p.I106I|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371724.1_Silent_p.I106I|SLC29A1_ENST00000371740.5_Silent_p.I106I|SLC29A1_ENST00000371713.1_Silent_p.I106I|SLC29A1_ENST00000371755.3_Silent_p.I106I|SLC29A1_ENST00000427851.2_Silent_p.I106I	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	106					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CCGGCAGGATCCCCCAGTCCG	0.642																																																	0													44	40	41					6																	44197647		2203	4300	6503	SO:0001819	synonymous_variant	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.318C>T	6.37:g.44197647C>T			B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.I185	ENST00000393841.1	37	c.555	CCDS4908.1	6																																																																																			SLC29A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt		0.642	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	C			44197647	1	no_errors	ENST00000313248	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44197647	C	T	44197647	2	4	172	1	0	0	0	0	0	0	0	1	14564	845	30	1		1	SLC29A1	6	44197647	Silent	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09		44197647	126917420	18	32572										
SYNE1	23345	genome.wustl.edu	37	chr6	152711581	152711581	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	cccttcacctttcatcaggaGaatatcctgggaaggaagaa	9	10	3	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr6:152711581G>A	ENST00000367255.5	-	53	8612	c.8011C>T	c.(8011-8013)Ctc>Ttc	p.L2671F	SYNE1_ENST00000341594.5_Missense_Mutation_p.L2710F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2678F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2678F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2671F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2671					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		TTCATCAGGAGAATATCCTGG	0.393										HNSCC(10;0.0054)																																							0													100	84	89					6																	152711581		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8011C>T	6.37:g.152711581G>A	ENSP00000356224:p.Leu2671Phe		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L2671F	ENST00000367255.5	37	c.8011	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806766	0.31961	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.60672	0.26;0.28;0.17;0.27;0.43	6.17	4.31	0.51392	.	0.224863	0.31450	N	0.007634	T	0.61515	0.2353	M	0.66939	2.045	0.80722	D	1	B;D;D;D	0.76494	0.09;0.998;0.998;0.999	B;D;D;D	0.70935	0.028;0.935;0.935;0.971	T	0.61544	-0.7041	10	0.31617	T	0.26	.	11.2052	0.48765	0.0655:0.0:0.8066:0.1279	.	2654;2671;2671;2678	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	2671;2678;2671;2678;2710	ENSP00000356224:L2671F;ENSP00000396024:L2678F;ENSP00000265368:L2671F;ENSP00000390975:L2678F;ENSP00000341887:L2710F	ENSP00000265368:L2671F	L	-	1	0	SYNE1	152753274	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	5.156000	0.64905	1.632000	0.50472	-0.140000	0.14226	CTC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152711581	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152711581	G	A	152711581	3	1	172	1	0	0	0	0	1	0	0	0	15475	942	33	1	18831	1	SYNE1	6	152711581	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	108513934	152711581	18403486	19	32573										
ATP6V0A4	50617	genome.wustl.edu	37	chr7	138417639	138417639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tacctgatgtttgtagagggGtgcgttggaagagtcactgt	15	5	1	3			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr7:138417639G>T	ENST00000310018.2	-	17	2173	c.1891C>A	c.(1891-1893)Ccc>Acc	p.P631T	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.P631T|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.P631T	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	631					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTGTAGAGGGGTGCGTTGGAA	0.368																																																	0													98	94	96					7																	138417639		2203	4300	6503	SO:0001583	missense	50617			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1891C>A	7.37:g.138417639G>T	ENSP00000308122:p.Pro631Thr		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.P631T	ENST00000310018.2	37	c.1891	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483355	0.26598	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.84800	-1.9;-1.9;-1.9	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	M	0.82517	2.595	0.58432	D	0.999995	D	0.89917	1.0	D	0.77557	0.99	D	0.89842	0.4003	10	0.22706	T	0.39	-26.721	20.2279	0.98344	0.0:0.0:1.0:0.0	.	631	Q9HBG4	VPP4_HUMAN	T	631	ENSP00000308122:P631T;ENSP00000376774:P631T;ENSP00000253856:P631T	ENSP00000308122:P631T	P	-	1	0	ATP6V0A4	138068179	1.000000	0.71417	0.699000	0.30290	0.032000	0.12392	4.764000	0.62264	2.778000	0.95560	0.655000	0.94253	CCC	ATP6V0A4	-	pfam_ATPase_V0/A0_a		0.368	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	G	NM_020632		138417639	-1	no_errors	ENST00000310018	ensembl	human	known	70_37	missense	SNP	0.999	T	T	138417639	G	T	138417639	3	4	172	1	0	0	0	0	1	0	0	0	1171	1261	44	4	655	4	ATP6V0A4	7	138417639	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09		138417639	20721024	20	32574										
CUL1	8454	genome.wustl.edu	37	chr7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	acagtgcaagtgacgatgccGaagccagcatgatctccaag	11	11	1	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000409469.1_Missense_Mutation_p.E485K|CUL1_ENST00000602748.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458																																																	4	Substitution - Missense(4)	urinary_tract(2)|lung(1)|central_nervous_system(1)											80	73	76					7																	148484186		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1453G>A	7.37:g.148484186G>A	ENSP00000326804:p.Glu485Lys		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E485K	ENST00000325222.4	37	c.1453	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.288263	0.95517	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86865	-2.18;-2.18	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.047140	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96814	0.9599	10	0.87932	D	0	-0.8542	19.4118	0.94677	0.0:0.0:1.0:0.0	.	412;485	E7EWR0;Q13616	.;CUL1_HUMAN	K	485;485;443;412	ENSP00000387160:E485K;ENSP00000326804:E485K	ENSP00000326804:E485K	E	+	1	0	CUL1	148115119	1.000000	0.71417	0.913000	0.36048	0.576000	0.36127	9.497000	0.97970	2.595000	0.87683	0.655000	0.94253	GAA	CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.458	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148484186	1	no_errors	ENST00000325222	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148484186	G	A	148484186	3	1	172	1	0	0	0	0	1	0	0	0	4059	1059	37	1	1499	1	CUL1	7	148484186	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	10066547	148484186	10654477	21	32575										
HTR5A	3361	genome.wustl.edu	37	chr7	154862923	154862923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ggtgcacgagctgtccgggcGccgctggcagctaggtcgga	18	12	0	0			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr7:154862923G>A	ENST00000287907.2	+	1	890	c.314G>A	c.(313-315)cGc>cAc	p.R105H	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.R31C|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.R31C	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	105					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTGTCCGGGCGCCGCTGGCAG	0.677																																																	0													47	40	42					7																	154862923		2203	4299	6502	SO:0001583	missense	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.314G>A	7.37:g.154862923G>A	ENSP00000287907:p.Arg105His		Q2M2D2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt	p.R105H	ENST00000287907.2	37	c.314	CCDS5936.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635016|3.635016	0.67130|0.67130	.|.	.|.	ENSG00000220575|ENSG00000157219	ENST00000395731;ENST00000543018|ENST00000287907	.|T	.|0.72167	.|-0.63	4.52|4.52	4.52|4.52	0.55395|0.55395	.|GPCR, rhodopsin-like superfamily (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.64461|0.64461	0.2600|0.2600	L|L	0.56396|0.56396	1.775|1.775	0.58432|0.58432	D|D	0.999999|0.999999	P|B	0.42735|0.33238	0.788|0.403	B|B	0.33042|0.32149	0.157|0.141	T|T	0.63585|0.63585	-0.6604|-0.6604	9|10	0.87932|0.31617	D|T	0|0.26	.|.	11.9524|11.9524	0.52962|0.52962	0.0833:0.0:0.9166:0.0|0.0833:0.0:0.9166:0.0	.|.	31|105	B7Z8E6|P47898	.|5HT5A_HUMAN	C|H	31|105	.|ENSP00000287907:R105H	ENSP00000379080:R31C|ENSP00000287907:R105H	R|R	-|+	1|2	0|0	AC093726.4|HTR5A	154493856|154493856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.416000|7.416000	0.80143|0.80143	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	CGC|CGC	HTR5A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.677	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	HGNC	protein_coding	OTTHUMT00000322240.1	G	NM_024012		154862923	1	no_errors	ENST00000287907	ensembl	human	known	70_37	missense	SNP	1.000	A	A	154862923	G	A	154862923	3	1	172	1	0	0	0	0	1	0	0	0	7470	1087	38	2	316	2	HTR5A	7	154862923	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	6378737	154862923	4275740	22	32576										
RNF139	83940	genome.wustl.edu	37	chr8	125499264	125499264	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	gtcctctgggaaaagcttgaCgattatgtctactacgttcg	10	9	2	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr8:125499264C>G	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.D458E|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAAAGCTTGACGATTATGTCT	0.358																																																	0													159	159	159					8																	125499264		2203	4300	6503	SO:0001628	intergenic_variant	11236			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499264C>G			B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.D458E	ENST00000276692.6	37	c.1374	CCDS6351.1	8	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251698	0.39797	.	.	ENSG00000170881	ENST00000303545	T	0.28255	1.62	5.63	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.66939	2.045	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.44847	-0.9301	10	0.66056	D	0.02	-16.835	9.4501	0.38721	0.0:0.3423:0.0:0.6577	.	458	Q8WU17	RN139_HUMAN	E	458	ENSP00000304051:D458E	ENSP00000304051:D458E	D	+	3	2	RNF139	125568445	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	0.588000	0.23924	0.474000	0.27392	-0.150000	0.13652	GAC	RNF139	-	NULL		0.358	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF139	HGNC	protein_coding	OTTHUMT00000381655.1	C	NM_032026		125499264	1	no_errors	ENST00000303545	ensembl	human	known	70_37	missense	SNP	0.998	G	G	125499264	C	G	125499264	1	3	172	0	1	0	0	0	0	0	0	0	13472	535	19	2		2	RNF139	8	125499264	IGR	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09		125499264	20864758	23	32577										
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123287355	123287355	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tttcagagttaagttcttcaAcctggggaaaaataatgaat	8	5	3	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr9:123287355A>G	ENST00000349780.4	-	11	1180	c.1001T>C	c.(1000-1002)gTt>gCt	p.V334A	CDK5RAP2_ENST00000360822.3_Splice_Site_p.V334A|CDK5RAP2_ENST00000360190.4_Splice_Site_p.V334A|CDK5RAP2_ENST00000359309.3_Splice_Site_p.V334A	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	334					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAGTTCTTCAACCTGGGGAAA	0.448																																																	0													82	73	76					9																	123287355		2203	4300	6503	SO:0001630	splice_region_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1000-1T>C	9.37:g.123287355A>G			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.V334A	ENST00000349780.4	37	c.1001	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539953	0.45176	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313;ENST00000482047	T;T;T;T;T	0.48522	3.83;3.73;3.83;3.74;0.81	5.51	3.22	0.36961	.	0.495352	0.18777	N	0.131451	T	0.43433	0.1247	L	0.57536	1.79	0.29881	N	0.826015	P;P;P;P	0.46142	0.873;0.571;0.859;0.799	B;B;P;B	0.48189	0.225;0.173;0.57;0.112	T	0.34950	-0.9808	10	0.19147	T	0.46	.	3.8196	0.08830	0.6369:0.0:0.1488:0.2143	.	135;334;334;334	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	A	334;334;334;334;336;88	ENSP00000354065:V334A;ENSP00000352258:V334A;ENSP00000343818:V334A;ENSP00000353317:V334A;ENSP00000419640:V88A	ENSP00000341695:V336A	V	-	2	0	CDK5RAP2	122327176	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.862000	0.48388	2.117000	0.64856	0.454000	0.30748	GTT	CDK5RAP2	-	NULL		0.448	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	A	NM_018249	Missense_Mutation	123287355	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	1.000	G	G	123287355	A	G	123287355	5	3	172	1	0	0	0	0	0	0	1	0	3151	57	2	5	4792	5	CDK5RAP2	9	123287355	Splice_Site	SNP	A	TCGA-LP-A5U3-01A-11D-A28B-09		123287355	17926076	24	32578										
KIAA1217	56243	genome.wustl.edu	37	chr10	24835047	24835047	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	atacaggtaaaggtcaccatCtttcattctcaccgcagagt	7	11	4	1	rs375951552		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr10:24835047C>T	ENST00000376454.3	+	21	5656	c.5626C>T	c.(5626-5628)Ctt>Ttt	p.L1876F	KIAA1217_ENST00000376462.1_Missense_Mutation_p.L1197F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L1282F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L1307F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1876	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGTCACCATCTTTCATTCTC	0.522																																																	0								C	PHE/LEU,PHE/LEU,PHE/LEU	0,4406		0,0,2203	167	148	155		3589,3724,5626	4.8	0.5	10		155	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	22,22,22	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1197/1265,1242/1310,1876/1944	24835047	1,13005	2203	4300	6503	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5626C>T	10.37:g.24835047C>T	ENSP00000365637:p.Leu1876Phe		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.L1876F	ENST00000376454.3	37	c.5626	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568373	0.65651	0.0	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	T;T;T;T	0.39997	1.07;1.05;1.37;1.06	4.79	4.79	0.61399	.	0.077805	0.52532	D	0.000065	T	0.61899	0.2384	M	0.64997	1.995	0.34330	D	0.687608	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;P;D;D	0.72338	0.962;0.854;0.977;0.962	T	0.70490	-0.4857	10	0.39692	T	0.17	.	17.9076	0.88923	0.0:1.0:0.0:0.0	.	1282;1307;1876;1277	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	F	1197;1282;1876;1307;1465	ENSP00000365645:L1197F;ENSP00000392625:L1282F;ENSP00000365637:L1876F;ENSP00000365635:L1307F	ENSP00000365635:L1307F	L	+	1	0	KIAA1217	24875053	1.000000	0.71417	0.515000	0.27774	0.923000	0.55619	7.304000	0.78882	2.233000	0.73108	0.650000	0.86243	CTT	KIAA1217	-	NULL		0.522	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	C	NM_019590		24835047	1	no_errors	ENST00000376454	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24835047	C	T	24835047	3	4	172	1	0	0	0	0	1	0	0	0	8236	913	32	1	5708	1	KIAA1217	10	24835047	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09		24835047	110699700	25	32579										
PAK1	5058	genome.wustl.edu	37	chr11	77090969	77090969	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	cctgtgacagcatcaaaaccGacatgaattgtgtgttcaaa	8	9	2	2	rs141395962		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr11:77090969G>A	ENST00000356341.3	-	3	792	c.261C>T	c.(259-261)gtC>gtT	p.V87V	PAK1_ENST00000530617.1_Silent_p.V87V|PAK1_ENST00000278568.4_Silent_p.V87V|PAK1_ENST00000528203.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	87	Autoregulatory region.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CATCAAAACCGACATGAATTG	0.418																																																	0								G	,	1,4399	2.1+/-5.4	0,1,2199	122	115	118		261,261	-1.2	1	11	dbSNP_134	118	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous	PAK1	NM_001128620.1,NM_002576.4	,	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	,	87/554,87/546	77090969	1,12983	2200	4292	6492	SO:0001819	synonymous_variant	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.261C>T	11.37:g.77090969G>A			O75561|Q13567|Q32M53|Q32M54|Q86W79	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.V87	ENST00000356341.3	37	c.261	CCDS8250.1	11																																																																																			PAK1	-	pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd		0.418	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	HGNC	protein_coding	OTTHUMT00000382083.2	G	NM_002576		77090969	-1	no_errors	ENST00000278568	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77090969	G	A	77090969	2	1	172	1	0	0	0	0	0	0	0	1	11423	1045	37	1		1	PAK1	11	77090969	Silent	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09		77090969	57915547	26	32580										
CCDC77	84318	genome.wustl.edu	37	chr12	521075	521075	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tattatcaaaagaagatggcTgagtgtgaggcagaaaatga	12	3	1	6			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr12:521075T>G	ENST00000239830.4	+	4	380	c.201T>G	c.(199-201)gcT>gcG	p.A67A	CCDC77_ENST00000422000.1_Silent_p.A35A|CCDC77_ENST00000540180.1_Silent_p.A35A|CCDC77_ENST00000412006.2_Silent_p.A35A|CCDC77_ENST00000540344.1_3'UTR	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	67						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AGAAGATGGCTGAGTGTGAGG	0.468																																																	0													93	93	93					12																	521075		2203	4300	6503	SO:0001819	synonymous_variant	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.201T>G	12.37:g.521075T>G			B4DDE8	Silent	SNP	NULL	p.A67	ENST00000239830.4	37	c.201	CCDS8503.1	12																																																																																			CCDC77	-	NULL		0.468	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	T	NM_032358		521075	1	no_errors	ENST00000239830	ensembl	human	known	70_37	silent	SNP	0.999	G	G	521075	T	G	521075	2	3	172	1	0	0	0	0	0	0	0	1	2856	1567	55	5		5	CCDC77	12	521075	Silent	SNP	T	TCGA-LP-A5U3-01A-11D-A28B-09		521075	133330820	27	32581										
VSIG10	54621	genome.wustl.edu	37	chr12	118520134	118520134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ggtggtggcctggagctgctGttgcagctgaagtccacctg	16	10	0	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr12:118520134G>A	ENST00000359236.5	-	3	738	c.462C>T	c.(460-462)aaC>aaT	p.N154N	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	154	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGGAGCTGCTGTTGCAGCTGA	0.607																																																	0													79	85	83					12																	118520134		1959	4148	6107	SO:0001819	synonymous_variant	54621				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.462C>T	12.37:g.118520134G>A			Q9NWQ7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.N154	ENST00000359236.5	37	c.462	CCDS44992.1	12																																																																																			VSIG10	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.607	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	G	NM_019086		118520134	-1	no_errors	ENST00000359236	ensembl	human	known	70_37	silent	SNP	0.922	A	A	118520134	G	A	118520134	2	1	172	1	0	0	0	0	0	0	0	1	17254	1368	48	4		4	VSIG10	12	118520134	Silent	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	117999059	118520134	15331761	28	32582										
SIX6	4990	genome.wustl.edu	37	chr14	60976393	60976393	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	agctgcaggcgctgtggcttGaagcacactaccaggaggct	14	11	0	1	rs78954112		TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:60976393G>C	ENST00000327720.5	+	1	725	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	93					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GCTGTGGCTTGAAGCACACTA	0.577																																																	0								G	GLN/GLU	0,4406		0,0,2203	42	43	43		277	5.5	1	14	dbSNP_131	43	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIX6	NM_007374.2	29	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	93/247	60976393	1,13005	2203	4300	6503	SO:0001583	missense	4990			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.277G>C	14.37:g.60976393G>C	ENSP00000328596:p.Glu93Gln		Q6NT42|Q9P1X8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E93Q	ENST00000327720.5	37	c.277	CCDS9747.1	14	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625724	0.66901	0.0	1.16E-4	ENSG00000184302	ENST00000327720	D	0.97303	-4.33	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.98974	1.0802	10	0.66056	D	0.02	.	18.6065	0.91268	0.0:0.0:1.0:0.0	.	93	O95475	SIX6_HUMAN	Q	93	ENSP00000328596:E93Q	ENSP00000328596:E93Q	E	+	1	0	SIX6	60046146	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	7.816000	0.86201	2.873000	0.98535	0.563000	0.77884	GAA	SIX6	-	NULL		0.577	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	G			60976393	1	no_errors	ENST00000327720	ensembl	human	known	70_37	missense	SNP	1.000	C	C	60976393	G	C	60976393	3	2	172	1	0	0	0	0	1	0	0	0	14381	1291	45	1	279	1	SIX6	14	60976393	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09		60976393	46373147	29	32583										
ZNF410	57862	genome.wustl.edu	37	chr14	74363160	74363160	+	Missense_Mutation	SNP	C	C	T													0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	cccggagtttttgtccacttCagagtcttctagcttgttgc							TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:74363160C>T	ENST00000555044.1	+	4	505	c.311C>T	c.(310-312)tCa>tTa	p.S104L	ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.S104L|ZNF410_ENST00000334521.4_Missense_Mutation_p.S51L|ZNF410_ENST00000540593.1_Intron|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.S121L|ZNF410_ENST00000556797.1_Missense_Mutation_p.S51L|RP5-1021I20.4_ENST00000556551.2_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TTGTCCACTTCAGAGTCTTCT	0.453																																																	0													143	139	140					14																	74363160		2203	4300	6503	SO:0001583	missense	57862			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.311C>T	14.37:g.74363160C>T	ENSP00000451763:p.Ser104Leu		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S104L	ENST00000555044.1	37	c.311	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800138	0.50208	.	.	ENSG00000119725	ENST00000555730;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000557363;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556797	T;T;T;T	0.09163	3.04;3.02;3.04;3.01	5.0	4.09	0.47781	.	0.557526	0.14879	N	0.293069	T	0.07234	0.0183	N	0.14661	0.345	0.29894	N	0.824978	B;B;B	0.21905	0.062;0.013;0.02	B;B;B	0.18561	0.022;0.006;0.007	T	0.16541	-1.0399	10	0.22109	T	0.4	.	13.2908	0.60270	0.1586:0.8414:0.0:0.0	.	121;104;104	B4DDV5;Q86VK4-3;Q86VK4	.;.;ZN410_HUMAN	L	51;104;111;104;51;93;121;104;51;51	ENSP00000323293:S104L;ENSP00000407130:S121L;ENSP00000451763:S104L;ENSP00000334170:S51L	ENSP00000323293:S104L	S	+	2	0	ZNF410	73432913	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	3.557000	0.53741	1.416000	0.47057	0.591000	0.81541	TCA	ZNF410	-	NULL		0.453	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	C	NM_021188		74363160	1	no_errors	ENST00000555044	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74363160	C	T	74363160	3	4	172	1	0	0	0	0	1	0	0	0	17920	838	29	1	321	1	ZNF410	14	74363160	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	13386767	74363160	32986380	30	32584	211	2								
ZNF410	57862	genome.wustl.edu	37	chr14	74363169	74363169	+	Missense_Mutation	SNP	C	C	G													0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tttgtccacttcagagtcttCtagcttgttgcaagatctac							TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:74363169C>G	ENST00000555044.1	+	4	514	c.320C>G	c.(319-321)tCt>tGt	p.S107C	ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.S107C|ZNF410_ENST00000334521.4_Missense_Mutation_p.S54C|ZNF410_ENST00000540593.1_Intron|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.S124C|ZNF410_ENST00000556797.1_Missense_Mutation_p.S54C|RP5-1021I20.4_ENST00000556551.2_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TCAGAGTCTTCTAGCTTGTTG	0.443																																																	0													143	139	141					14																	74363169		2203	4300	6503	SO:0001583	missense	57862			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.320C>G	14.37:g.74363169C>G	ENSP00000451763:p.Ser107Cys		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S107C	ENST00000555044.1	37	c.320	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226049	0.79576	.	.	ENSG00000119725	ENST00000555730;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000557363;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556797	T;T;T;T	0.11604	2.82;2.8;2.81;2.76	5.3	5.3	0.74995	.	0.164767	0.28927	N	0.013691	T	0.11239	0.0274	N	0.19112	0.55	0.43351	D	0.995412	D;P;P	0.58620	0.983;0.924;0.947	P;B;B	0.45712	0.491;0.299;0.322	T	0.03112	-1.1071	10	0.62326	D	0.03	.	17.3045	0.87191	0.0:1.0:0.0:0.0	.	124;107;107	B4DDV5;Q86VK4-3;Q86VK4	.;.;ZN410_HUMAN	C	54;107;114;107;54;96;124;107;54;54	ENSP00000323293:S107C;ENSP00000407130:S124C;ENSP00000451763:S107C;ENSP00000334170:S54C	ENSP00000323293:S107C	S	+	2	0	ZNF410	73432922	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.190000	0.65104	2.748000	0.94277	0.591000	0.81541	TCT	ZNF410	-	NULL		0.443	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	C	NM_021188		74363169	1	no_errors	ENST00000555044	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74363169	C	G	74363169	3	3	172	1	0	0	0	0	1	0	0	0	17920	913	32	1	330	1	ZNF410	14	74363169	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	9	74363169	32986371	31	32585	211	2								
C14orf118	55668	genome.wustl.edu	37	chr14	76621155	76621155	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tcagcagaagctgaaggtgtCagattggagctatgagagag	15	5	2	5			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:76621155C>T	ENST00000261530.7	+	2	515	c.449C>T	c.(448-450)tCa>tTa	p.S150L	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.S150L|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.S150L|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.S150L	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	150																	CTGAAGGTGTCAGATTGGAGC	0.547																																																	0													62	61	61					14																	76621155		2203	4300	6503	SO:0001583	missense	55668			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.449C>T	14.37:g.76621155C>T	ENSP00000261530:p.Ser150Leu		B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	NULL	p.S150L	ENST00000261530.7	37	c.449	CCDS9848.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.063885	0.93898	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.48201	0.85;0.83;0.82;0.85	5.57	5.57	0.84162	.	0.080653	0.52532	D	0.000077	T	0.57095	0.2030	L	0.34521	1.04	0.80722	D	1	P;D;D	0.67145	0.936;0.978;0.996	P;P;P	0.61477	0.737;0.806;0.889	T	0.52852	-0.8520	10	0.37606	T	0.19	-23.5419	19.5549	0.95342	0.0:1.0:0.0:0.0	.	150;150;150	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	L	150	ENSP00000451587:S150L;ENSP00000323775:S150L;ENSP00000261530:S150L;ENSP00000450657:S150L	ENSP00000261530:S150L	S	+	2	0	C14orf118	75690908	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.959000	0.76031	2.622000	0.88805	0.655000	0.94253	TCA	GPATCH2L	-	NULL		0.547	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	GPATCH2L	HGNC	protein_coding	OTTHUMT00000413698.2	C	NM_017926		76621155	1	no_errors	ENST00000261530	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76621155	C	T	76621155	3	4	172	1	0	0	0	0	1	0	0	0	1745	838	29	1	451	1	C14orf118	14	76621155	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	2257986	76621155	30728385	32	32586										
TRIP11	9321	genome.wustl.edu	37	chr14	92474016	92474016	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ttgattctgtctgtccaattCttctatctcagctatcagtg	6	10	6	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr14:92474016C>T	ENST00000267622.4	-	10	1868	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	499					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTGTCCAATTCTTCTATCTCA	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													152	147	149					14																	92474016		2202	4298	6500	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1495G>A	14.37:g.92474016C>T	ENSP00000267622:p.Glu499Lys		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E499K	ENST00000267622.4	37	c.1495	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.204062|3.204062	0.58234|0.58234	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.08896|.	3.04|.	6.04|6.04	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72260|0.72260	0.3438|0.3438	M|M	0.65975|0.65975	2.015|2.015	0.48830|0.48830	D|D	0.999719|0.999719	B;D|.	0.57571|.	0.197;0.98|.	B;D|.	0.64776|.	0.147;0.929|.	T|T	0.72107|0.72107	-0.4390|-0.4390	10|5	0.40728|.	T|.	0.16|.	.|.	15.5041|15.5041	0.75725|0.75725	0.0:0.9339:0.0:0.0661|0.0:0.9339:0.0:0.0661	.|.	235;499|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	K|K	499;235|214	ENSP00000267622:E499K|.	ENSP00000267622:E499K|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91543769|91543769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.175000|0.175000	0.22909|0.22909	4.852000|4.852000	0.62904|0.62904	1.569000|1.569000	0.49696|0.49696	-0.291000|-0.291000	0.09656|0.09656	GAA|AGA	TRIP11	-	NULL		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	C			92474016	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92474016	C	T	92474016	3	4	172	1	0	0	0	0	1	0	0	0	16586	922	32	1	4492	1	TRIP11	14	92474016	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	15852861	92474016	14875524	33	32587										
MGA	23269	genome.wustl.edu	37	chr15	41961606	41961606	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	caggtcattattggatgcatCaaccagtatctttctataaa	6	8	4	0			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr15:41961606C>T	ENST00000570161.1	+	1	514	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	MGA_ENST00000219905.7_Nonsense_Mutation_p.Q172*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q172*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q172*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q172*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGGATGCATCAACCAGTATC	0.453																																																	0													252	249	250					15																	41961606		1925	4127	6052	SO:0001587	stop_gained	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.514C>T	15.37:g.41961606C>T	ENSP00000457035:p.Gln172*		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.Q172*	ENST00000570161.1	37	c.514	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.021232	0.97211	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	6.06	5.11	0.69529	.	0.149487	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.8247	0.85927	0.1291:0.8709:0.0:0.0	.	.	.	.	X	172	.	ENSP00000219905:Q172X	Q	+	1	0	MGA	39748898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.518000	0.45537	2.882000	0.98803	0.655000	0.94253	CAA	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box		0.453	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		41961606	1	no_errors	ENST00000219905	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	41961606	C	T	41961606	4	4	172	1	0	0	0	0	0	1	0	0	9563	827	29	1	516	1	MGA	15	41961606	Nonsense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09		41961606	60569786	34	32588										
VPS13C	54832	genome.wustl.edu	37	chr15	62256067	62256067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ttcggcgatattgttcttttCgttgcaaacaatgacacaga	8	8	1	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr15:62256067C>T	ENST00000261517.5	-	32	3371	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	VPS13C_ENST00000249837.3_Missense_Mutation_p.E1057K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E1057K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E1100K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.E1100K(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTTCTTTTCGTTGCAAACA	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)											114	104	107					15																	62256067		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3298G>A	15.37:g.62256067C>T	ENSP00000261517:p.Glu1100Lys			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E1100K	ENST00000261517.5	37	c.3298	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867379	0.72065	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.38401	1.14;1.14;1.14	5.66	5.66	0.87406	.	0.060437	0.64402	D	0.000004	T	0.32466	0.0830	N	0.11560	0.145	0.58432	D	0.999997	D;D;D;D	0.63880	0.991;0.98;0.993;0.976	P;P;P;B	0.52066	0.477;0.559;0.689;0.427	T	0.08534	-1.0717	10	0.17369	T	0.5	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	1057;1100;1057;1100	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	1057;1100;1100;1100	ENSP00000249837:E1057K;ENSP00000261517:E1100K;ENSP00000379233:E1100K	ENSP00000249837:E1057K	E	-	1	0	VPS13C	60043359	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	4.129000	0.57957	2.656000	0.90262	0.655000	0.94253	GAA	VPS13C	-	NULL		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62256067	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62256067	C	T	62256067	3	4	172	1	0	0	0	0	1	0	0	0	17222	893	31	1	8207	1	VPS13C	15	62256067	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	20294461	62256067	40275325	35	32589										
RUNDC2A	92017	genome.wustl.edu	37	chr16	12093183	12093183	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	acaatgacaaaagacaatttCtgctggagcgactgctggat	10	8	1	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr16:12093183C>T	ENST00000566228.1	+	2	106	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	13						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AAGACAATTTCTGCTGGAGCG	0.428																																																	0													93	84	87					16																	12093183		2197	4300	6497	SO:0001819	synonymous_variant	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.37C>T	16.37:g.12093183C>T			B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.L13	ENST00000566228.1	37	c.37	CCDS10553.2	16																																																																																			SNX29	-	NULL		0.428	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	C			12093183	1	no_errors	ENST00000268271	ensembl	human	known	70_37	silent	SNP	1.000	T	T	12093183	C	T	12093183	2	4	172	1	0	0	0	0	0	0	0	1	13773	912	32	1		1	RUNDC2A	16	12093183	Silent	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09		12093183	78261570	36	32590										
ITGAD	3681	genome.wustl.edu	37	chr16	31434714	31434714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	gatctggccatcagcattaaCttctgggttcctgtcctgct	9	12	3	0			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr16:31434714C>T	ENST00000389202.2	+	25	2950	c.2901C>T	c.(2899-2901)aaC>aaT	p.N967N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	967					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAGCATTAACTTCTGGGTTC	0.527																																																	0													177	152	160					16																	31434714		2197	4300	6497	SO:0001819	synonymous_variant	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2901C>T	16.37:g.31434714C>T			Q15575|Q15576	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.N967	ENST00000389202.2	37	c.2901	CCDS32438.1	16																																																																																			ITGAD	-	pfam_Integrin_alpha-2		0.527	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	C	NM_005353		31434714	1	no_errors	ENST00000389202	ensembl	human	known	70_37	silent	SNP	0.012	T	T	31434714	C	T	31434714	2	4	172	1	0	0	0	0	0	0	0	1	7904	564	20	4		4	ITGAD	16	31434714	Silent	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	19341531	31434714	58920039	37	32591										
FOXL1	2300	genome.wustl.edu	37	chr16	86612401	86612401	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ctgtatctgtacggtcccgaGagacccggcctccctctggc	11	16	2	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr16:86612401G>A	ENST00000320241.3	+	1	287	c.72G>A	c.(70-72)gaG>gaA	p.E24E		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	24					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ACGGTCCCGAGAGACCCGGCC	0.701																																					NSCLC(163;308 2020 10889 11476 18208)												0													33	38	36					16																	86612401		2193	4295	6488	SO:0001819	synonymous_variant	2300			AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"Forkhead boxes"	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.72G>A	16.37:g.86612401G>A			Q17RR1|Q9H242	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E24	ENST00000320241.3	37	c.72	CCDS10959.1	16																																																																																			FOXL1	-	NULL		0.701	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXL1	HGNC	protein_coding	OTTHUMT00000269105.2	G	NM_005250		86612401	1	no_errors	ENST00000320241	ensembl	human	known	70_37	silent	SNP	0.753	A	A	86612401	G	A	86612401	2	1	172	1	0	0	0	0	0	0	0	1	6034	933	33	1		1	FOXL1	16	86612401	Silent	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	55177687	86612401	3742352	38	32592										
B4GALNT2	124872	genome.wustl.edu	37	chr17	47218741	47218741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	gaactcccaagtcctgccccGggtgtccagaagctgaagct	11	14	0	2	rs141409265	byFrequency	TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:47218741G>A	ENST00000300404.2	+	2	386	c.327G>A	c.(325-327)ccG>ccA	p.P109P	B4GALNT2_ENST00000393354.2_Silent_p.P49P|B4GALNT2_ENST00000504681.1_Silent_p.P23P	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	109					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GTCCTGCCCCGGGTGTCCAGA	0.498																																					GBM(124;244 1635 8663 18097 33175)												0								A	,,	4,4402	8.1+/-20.4	0,4,2199	90	91	91		147,69,327	-10.8	0	17	dbSNP_134	91	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous,coding-synonymous	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	,,	0,15,6488	AA,AG,GG		0.1279,0.0908,0.1153	,,	49/507,23/481,109/567	47218741	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.327G>A	17.37:g.47218741G>A			B4DZE4|Q14CP1|Q86Y40	Silent	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.P109	ENST00000300404.2	37	c.327	CCDS11544.1	17																																																																																			B4GALNT2	-	pirsf_GM2_synthase		0.498	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	G	NM_153446		47218741	1	no_errors	ENST00000300404	ensembl	human	known	70_37	silent	SNP	0.000	A	A	47218741	G	A	47218741	2	1	172	1	0	0	0	0	0	0	0	1	1268	1103	39	2		2	B4GALNT2	17	47218741	Silent	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09		47218741	33976469	39	32593										
ITGB4	3691	genome.wustl.edu	37	chr17	73728256	73728256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	cattccagcaaaaagaggtgCggtcagctcgctgcagcttc	11	12	1	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:73728256C>T	ENST00000200181.3	+	12	1577	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	ITGB4_ENST00000339591.3_Missense_Mutation_p.R464W|ITGB4_ENST00000579662.1_Missense_Mutation_p.R464W|ITGB4_ENST00000449880.2_Missense_Mutation_p.R464W|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R464W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	464	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAAAGAGGTGCGGTCAGCTCG	0.627																																																	0													118	100	106					17																	73728256		2203	4300	6503	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1390C>T	17.37:g.73728256C>T	ENSP00000200181:p.Arg464Trp		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.R464W	ENST00000200181.3	37	c.1390	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559657	0.27827	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.75260	-0.92;-0.87;-0.87	5.16	4.12	0.48240	.	1.114660	0.06797	N	0.788114	T	0.76969	0.4062	M	0.62723	1.935	0.09310	N	1	P;D;D;D;D	0.60160	0.84;0.987;0.986;0.976;0.976	B;B;P;B;B	0.49047	0.121;0.279;0.599;0.394;0.394	T	0.65405	-0.6176	10	0.72032	D	0.01	.	7.746	0.28869	0.3302:0.5897:0.0:0.0801	.	424;464;464;464;464	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	W	380;464;464;464	ENSP00000200181:R464W;ENSP00000344079:R464W;ENSP00000400217:R464W	ENSP00000200181:R464W	R	+	1	2	ITGB4	71239851	0.000000	0.05858	0.876000	0.34364	0.938000	0.57974	0.025000	0.13577	2.402000	0.81655	0.655000	0.94253	CGG	ITGB4	-	pirsf_Integrin_bsu-4		0.627	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	C			73728256	1	no_errors	ENST00000200181	ensembl	human	known	70_37	missense	SNP	0.001	T	T	73728256	C	T	73728256	3	4	172	1	0	0	0	0	1	0	0	0	7917	759	27	2	1432	2	ITGB4	17	73728256	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	26509515	73728256	7466954	40	32594										
ZNF750	79755	genome.wustl.edu	37	chr17	80789323	80789323	+	Silent	SNP	T	T	A													0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	cgggtgaggccagtgacaggTgggagtctgagaccatagga							TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:80789323T>A	ENST00000269394.3	-	2	1841	c.1008A>T	c.(1006-1008)ccA>ccT	p.P336P	ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	336					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAGTGACAGGTGGGAGTCTGA	0.522																																																	0													134	145	141					17																	80789323		2203	4300	6503	SO:0001819	synonymous_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1008A>T	17.37:g.80789323T>A			Q9H899	Silent	SNP	NULL	p.P336	ENST00000269394.3	37	c.1008	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.522	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	T	NM_024702		80789323	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	silent	SNP	0.000	A	A	80789323	T	A	80789323	2	1	172	1	0	0	0	0	0	0	0	1	18162	1683	59	5		5	ZNF750	17	80789323	Silent	SNP	T	TCGA-LP-A5U3-01A-11D-A28B-09	7061067	80789323	405887	41	32595	212	3								
ZNF750	79755	genome.wustl.edu	37	chr17	80789326	80789326	+	Silent	SNP	G	G	A													0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	gtgaggccagtgacaggtggGagtctgagaccataggagga							TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:80789326G>A	ENST00000269394.3	-	2	1838	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	335					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGACAGGTGGGAGTCTGAGAC	0.522																																																	0													137	147	143					17																	80789326		2203	4300	6503	SO:0001819	synonymous_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1005C>T	17.37:g.80789326G>A			Q9H899	Silent	SNP	NULL	p.L335	ENST00000269394.3	37	c.1005	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.522	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	G	NM_024702		80789326	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	silent	SNP	0.294	A	A	80789326	G	A	80789326	2	1	172	1	0	0	0	0	0	0	0	1	18162	1161	41	1		1	ZNF750	17	80789326	Silent	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	3	80789326	405884	42	32596	212	3								
ZNF750	79755	genome.wustl.edu	37	chr17	80789328	80789328	+	Missense_Mutation	SNP	G	G	A													0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	gaggccagtgacaggtgggaGtctgagaccataggaggaaa							TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr17:80789328G>A	ENST00000269394.3	-	2	1836	c.1003C>T	c.(1003-1005)Ctc>Ttc	p.L335F	ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	335					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACAGGTGGGAGTCTGAGACCA	0.512																																																	0													138	148	145					17																	80789328		2203	4300	6503	SO:0001583	missense	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1003C>T	17.37:g.80789328G>A	ENSP00000269394:p.Leu335Phe		Q9H899	Missense_Mutation	SNP	NULL	p.L335F	ENST00000269394.3	37	c.1003	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072827	0.20147	.	.	ENSG00000141579	ENST00000269394	T	0.14266	2.52	4.77	3.79	0.43588	.	0.119957	0.36665	N	0.002462	T	0.10981	0.0268	L	0.48642	1.525	0.22858	N	0.998647	B	0.17667	0.023	B	0.20955	0.032	T	0.23511	-1.0186	9	.	.	.	-28.9196	4.9651	0.14087	0.1991:0.1769:0.624:0.0	.	335	Q32MQ0	ZN750_HUMAN	F	335	ENSP00000269394:L335F	.	L	-	1	0	ZNF750	78382617	0.970000	0.33590	0.906000	0.35671	0.394000	0.30568	2.504000	0.45416	1.133000	0.42147	0.563000	0.77884	CTC	ZNF750	-	NULL		0.512	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	G	NM_024702		80789328	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	missense	SNP	0.279	A	A	80789328	G	A	80789328	3	1	172	1	0	0	0	0	1	0	0	0	18162	1029	36	4	1176	4	ZNF750	17	80789328	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	2	80789328	405882	43	32597	212	3								
CDH19	28513	genome.wustl.edu	37	chr18	64239258	64239258	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	aataagtacctggccgatgtGatgactagtcgtattcattt	9	7	1	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr18:64239258G>A	ENST00000540086.1	-	2	430	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	CDH19_ENST00000262150.2_Missense_Mutation_p.H62Y	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	162	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGGCCGATGTGATGACTAGTC	0.378																																																	0													86	80	82					18																	64239258		2203	4300	6503	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.184C>T	18.37:g.64239258G>A	ENSP00000439593:p.His62Tyr		O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H62Y	ENST00000540086.1	37	c.184	CCDS59325.1	18	.	.	.	.	.	.	.	.	.	.	G	8.648	0.897671	0.17686	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.60171	0.21;0.21	5.83	2.99	0.34606	Cadherin (2);Cadherin-like (1);	0.634672	0.16560	N	0.209072	T	0.22551	0.0544	N	0.01228	-0.945	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.28202	-1.0051	10	0.02654	T	1	.	9.1615	0.37025	0.3257:0.0:0.6743:0.0	.	62;62	F5H1K0;Q9H159	.;CAD19_HUMAN	Y	62;62;7	ENSP00000262150:H62Y;ENSP00000439593:H62Y	ENSP00000262150:H62Y	H	-	1	0	CDH19	62390238	0.001000	0.12720	0.007000	0.13788	0.036000	0.12997	0.985000	0.29578	0.326000	0.23384	0.655000	0.94253	CAC	CDH19	-	pfam_Cadherin,superfamily_Cadherin-like		0.378	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	G	NM_021153		64239258	-1	no_errors	ENST00000262150	ensembl	human	known	70_37	missense	SNP	0.009	A	A	64239258	G	A	64239258	3	1	172	1	0	0	0	0	1	0	0	0	3109	1290	45	1	2178	1	CDH19	18	64239258	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09		64239258	13837990	44	32598										
FOSB	2354	genome.wustl.edu	37	chr19	45974502	45974502	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	gtgcgccgggaacgaaataaActagcagcagctaaatgcag	12	9	0	0			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr19:45974502A>C	ENST00000353609.3	+	3	1090	c.498A>C	c.(496-498)aaA>aaC	p.K166N	ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.K166N|FOSB_ENST00000586615.1_Missense_Mutation_p.K117N|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000592811.1_Missense_Mutation_p.K117N|FOSB_ENST00000590335.1_3'UTR|FOSB_ENST00000591858.1_Missense_Mutation_p.K127N|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000417353.2_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	166	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AACGAAATAAACTAGCAGCAG	0.607																																																	0													65	45	52					19																	45974502		2181	4270	6451	SO:0001583	missense	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.498A>C	19.37:g.45974502A>C	ENSP00000245919:p.Lys166Asn		A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.K166N	ENST00000353609.3	37	c.498	CCDS12664.1	19	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707673	0.68615	.	.	ENSG00000125740	ENST00000353609;ENST00000455928	T	0.57907	0.37	4.19	-1.94	0.07571	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.93638	3.44	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.74954	-0.3488	10	0.87932	D	0	-9.6953	9.2482	0.37539	0.6197:0.0:0.3803:0.0	.	127;166	A8VJF0;P53539	.;FOSB_HUMAN	N	166	ENSP00000245919:K166N	ENSP00000245919:K166N	K	+	3	2	FOSB	50666342	0.003000	0.15002	0.995000	0.50966	0.796000	0.44982	-0.034000	0.12225	-0.234000	0.09782	-0.366000	0.07423	AAA	FOSB	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos		0.607	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSB	HGNC	protein_coding	OTTHUMT00000459561.1	A	NM_006732		45974502	1	no_errors	ENST00000353609	ensembl	human	known	70_37	missense	SNP	0.985	C	C	45974502	A	C	45974502	3	2	172	1	0	0	0	0	1	0	0	0	6004	40	2	5	508	5	FOSB	19	45974502	Missense_Mutation	SNP	A	TCGA-LP-A5U3-01A-11D-A28B-09		45974502	13154481	45	32599										
SULT2B1	6820	genome.wustl.edu	37	chr19	49102448	49102448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	cccagagcgaagccttcgatCgtgcctaccgcaagcagatg	11	14	0	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr19:49102448C>T	ENST00000201586.2	+	7	1061	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000323090.4_Missense_Mutation_p.R280C	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	295					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		AGCCTTCGATCGTGCCTACCG	0.667																																																	0													38	33	35					19																	49102448		2200	4297	6497	SO:0001583	missense	6820			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.883C>T	19.37:g.49102448C>T	ENSP00000201586:p.Arg295Cys		O00205|O75814	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R295C	ENST00000201586.2	37	c.883	CCDS12723.1	19	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372892	0.61624	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	D;D	0.83250	-1.7;-1.7	5.29	-1.41	0.08941	Sulfotransferase domain (1);	0.394347	0.18169	U	0.149525	D	0.87908	0.6296	M	0.77103	2.36	0.09310	N	1	D;D	0.76494	0.999;0.999	P;D	0.63957	0.782;0.92	T	0.81337	-0.0978	10	0.72032	D	0.01	.	11.0325	0.47781	0.616:0.2709:0.1131:0.0	.	280;295	O00204-2;O00204	.;ST2B1_HUMAN	C	295;280	ENSP00000201586:R295C;ENSP00000312880:R280C	ENSP00000201586:R295C	R	+	1	0	SULT2B1	53794260	0.838000	0.29461	0.000000	0.03702	0.001000	0.01503	0.459000	0.21908	-0.248000	0.09583	-0.195000	0.12781	CGT	SULT2B1	-	pfam_Sulfotransferase_dom		0.667	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	HGNC	protein_coding	OTTHUMT00000466140.1	C	NM_004605		49102448	1	no_errors	ENST00000201586	ensembl	human	known	70_37	missense	SNP	0.000	T	T	49102448	C	T	49102448	3	4	172	1	0	0	0	0	1	0	0	0	15412	884	31	1	935	1	SULT2B1	19	49102448	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	3127946	49102448	10026535	46	32600										
PEG3	5178	genome.wustl.edu	37	chr19	57328826	57328826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	cttgactcccttgctcttccCgatttggaactgcgtgacac	8	14	1	2			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chr19:57328826C>T	ENST00000326441.9	-	10	1347	c.984G>A	c.(982-984)tcG>tcA	p.S328S	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.S328S|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.S204S|PEG3_ENST00000593695.1_Silent_p.S202S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	328					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGCTCTTCCCGATTTGGAAC	0.473																																																	0													75	72	73					19																	57328826		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.984G>A	19.37:g.57328826C>T			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S328	ENST00000326441.9	37	c.984	CCDS12948.1	19																																																																																			PEG3	-	NULL		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	C			57328826	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	silent	SNP	0.000	T	T	57328826	C	T	57328826	2	4	172	1	0	0	0	0	0	0	0	1	11744	639	23	2		2	PEG3	19	57328826	Silent	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	8226378	57328826	1800157	47	32601										
NHS	4810	genome.wustl.edu	37	chrX	17744069	17744069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	actgcatctccacggctggcGtcctccttagcagccacatg	9	16	1	0			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:17744069G>A	ENST00000380060.3	+	6	2118	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	NHS_ENST00000398097.3_Missense_Mutation_p.V438I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	615					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CACGGCTGGCGTCCTCCTTAG	0.592																																																	0													76	62	67					X																	17744069		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1780G>A	X.37:g.17744069G>A	ENSP00000369400:p.Val594Ile		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.V594I	ENST00000380060.3	37	c.1780	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900314	0.52227	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.48201	0.82;0.84	5.86	5.0	0.66597	.	0.170372	0.51477	D	0.000094	T	0.60689	0.2288	M	0.66939	2.045	0.51482	D	0.999925	P;B;B;D	0.71674	0.48;0.178;0.178;0.998	B;B;B;P	0.58130	0.071;0.042;0.042;0.833	T	0.59867	-0.7373	10	0.33940	T	0.23	-12.6421	14.0633	0.64812	0.0738:0.0:0.9262:0.0	.	615;436;438;594	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	I	594;438;436	ENSP00000369400:V594I;ENSP00000381170:V438I	ENSP00000369397:V436I	V	+	1	0	NHS	17653990	1.000000	0.71417	0.841000	0.33234	0.764000	0.43329	9.476000	0.97823	1.235000	0.43724	0.600000	0.82982	GTC	NHS	-	NULL		0.592	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	G	NM_198270		17744069	1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.998	A	A	17744069	G	A	17744069	3	1	172	1	0	0	0	0	1	0	0	0	10435	1145	40	2	1907	2	NHS	23	17744069	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09		17744069	137526491	48	32602										
FTHL17	53940	genome.wustl.edu	37	chrX	31089910	31089910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ccgacaggcgcaggaagtagCggaagaagttctccagggcc	15	11	1	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:31089910C>T	ENST00000359202.3	-	1	260	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	54	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CAGGAAGTAGCGGAAGAAGTT	0.567																																																	0													89	79	83					X																	31089910		2202	4300	6502	SO:0001583	missense	53940			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.161G>A	X.37:g.31089910C>T	ENSP00000368207:p.Arg54His		Q6NT24|Q6NTE2	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron	p.R54H	ENST00000359202.3	37	c.161	CCDS14227.1	X	.	.	.	.	.	.	.	.	.	.	C	6.008	0.369844	0.11352	.	.	ENSG00000132446	ENST00000359202	T	0.67171	-0.25	3.43	-6.86	0.01676	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	3.081050	0.00885	N	0.002161	T	0.39279	0.1072	N	0.10618	0.005	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.37079	-0.9721	10	0.21014	T	0.42	.	2.7547	0.05289	0.1893:0.1847:0.0913:0.5348	.	54	Q9BXU8	FHL17_HUMAN	H	54	ENSP00000368207:R54H	ENSP00000368207:R54H	R	-	2	0	FTHL17	30999831	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.325000	0.19628	-3.593000	0.00135	-1.101000	0.02118	CGC	FTHL17	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron		0.567	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTHL17	HGNC	protein_coding	OTTHUMT00000056178.1	C	NM_031894		31089910	-1	no_errors	ENST00000359202	ensembl	human	known	70_37	missense	SNP	0.000	T	T	31089910	C	T	31089910	3	4	172	1	0	0	0	0	1	0	0	0	6101	768	27	2	394	2	FTHL17	23	31089910	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	13345841	31089910	124180650	49	32603										
ELK1	2002	genome.wustl.edu	37	chrX	47500685	47500685	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ttgtcgtaattcatgttggtCttgttcttgcgtagccccca	9	10	3	0			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:47500685C>T	ENST00000247161.3	-	2	255	c.156G>A	c.(154-156)aaG>aaA	p.K52K	ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000376983.3_Silent_p.K52K|ELK1_ENST00000343894.4_Silent_p.K52K	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	52					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TCATGTTGGTCTTGTTCTTGC	0.552																																																	0													127	100	109					X																	47500685		2203	4300	6503	SO:0001819	synonymous_variant	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.156G>A	X.37:g.47500685C>T			B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.K52	ENST00000247161.3	37	c.156	CCDS14283.1	X																																																																																			ELK1	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.552	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	C	NM_005229		47500685	-1	no_errors	ENST00000247161	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47500685	C	T	47500685	2	4	172	1	0	0	0	0	0	0	0	1	5071	912	32	1		1	ELK1	23	47500685	Silent	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	16410775	47500685	107769875	50	32604										
GPR173	54328	genome.wustl.edu	37	chrX	53106806	53106806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tgagcttcgcccaggctgccGtcaacccaattgtctgcttc	9	15	2	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:53106806G>A	ENST00000332582.4	+	2	1494	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	335					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CCAGGCTGCCGTCAACCCAAT	0.612																																																	0													71	56	61					X																	53106806		2203	4300	6503	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.1003G>A	X.37:g.53106806G>A	ENSP00000331600:p.Val335Ile		B1B0A5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V335I	ENST00000332582.4	37	c.1003	CCDS14349.1	X	.	.	.	.	.	.	.	.	.	.	G	12.79	2.045047	0.36085	.	.	ENSG00000184194	ENST00000332582	T	0.36340	1.26	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.43701	1.375	0.80722	D	1	P	0.44478	0.836	B	0.42112	0.376	T	0.05178	-1.0901	10	0.20519	T	0.43	-20.2073	15.3014	0.73955	0.0:0.0:1.0:0.0	.	335	Q9NS66	GP173_HUMAN	I	335	ENSP00000331600:V335I	ENSP00000331600:V335I	V	+	1	0	GPR173	53123531	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	6.792000	0.75125	2.203000	0.70933	0.523000	0.50628	GTC	GPR173	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	G	NM_018969		53106806	1	no_errors	ENST00000332582	ensembl	human	known	70_37	missense	SNP	0.999	A	A	53106806	G	A	53106806	3	1	172	1	0	0	0	0	1	0	0	0	6690	1145	40	2	1005	2	GPR173	23	53106806	Missense_Mutation	SNP	G	TCGA-LP-A5U3-01A-11D-A28B-09	5606121	53106806	102163754	51	32605										
GPRASP1	9737	genome.wustl.edu	37	chrX	101910193	101910193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	ggccagtatggggactggggCtagcagtaaatccagaccaa	14	9	0	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:101910193C>T	ENST00000361600.5	+	5	2153	c.1352C>T	c.(1351-1353)gCt>gTt	p.A451V	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A451V|GPRASP1_ENST00000444152.1_Missense_Mutation_p.A451V|GPRASP1_ENST00000537097.1_Missense_Mutation_p.A451V	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	451					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGACTGGGGCTAGCAGTAAA	0.512																																																	0													113	101	105					X																	101910193		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1352C>T	X.37:g.101910193C>T	ENSP00000355146:p.Ala451Val		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.A451V	ENST00000361600.5	37	c.1352	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	5.935	0.356527	0.11239	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	2.9	2.9	0.33743	.	.	.	.	.	T	0.06600	0.0169	L	0.29908	0.895	0.09310	N	1	B	0.34103	0.437	B	0.27500	0.08	T	0.29701	-1.0003	9	0.23891	T	0.37	-0.7657	6.532	0.22332	0.2865:0.7135:0.0:0.0	.	451	Q5JY77	GASP1_HUMAN	V	451	ENSP00000393691:A451V;ENSP00000409420:A451V;ENSP00000355146:A451V;ENSP00000445683:A451V	ENSP00000355146:A451V	A	+	2	0	GPRASP1	101796849	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	0.068000	0.14531	1.718000	0.51419	0.519000	0.50382	GCT	GPRASP1	-	NULL		0.512	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	C	NM_014710		101910193	1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.001	T	T	101910193	C	T	101910193	3	4	172	1	0	0	0	0	1	0	0	0	6742	797	28	4	1354	4	GPRASP1	23	101910193	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	48803387	101910193	53360367	52	32606										
F9	2158	genome.wustl.edu	37	chrX	138633230	138633230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.26	13	0.00308784268990993	2.36904761904762	1.59455128205128	2.46898263027295	6.87994496044034e-05	0.000704294472425545	8	tatttttctagtgccatttcCatgtggaagagtttctgttt	8	6	2	1			TCGA-LP-A5U3-01A-11D-A28B-09	TCGA-LP-A5U3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83db6019-579d-4875-a935-6878ed5119e2	9fa979c3-9393-464e-a0b4-56b84ddfca32	g.chrX:138633230C>T	ENST00000218099.2	+	6	537	c.530C>T	c.(529-531)cCa>cTa	p.P177L	F9_ENST00000394090.2_Missense_Mutation_p.P139L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	177					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GTGCCATTTCCATGTGGAAGA	0.368																																																	0			GRCh37	CM940526	F9	M							87	75	79					X																	138633230		2203	4300	6503	SO:0001583	missense	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.530C>T	X.37:g.138633230C>T	ENSP00000218099:p.Pro177Leu		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.P177L	ENST00000218099.2	37	c.530	CCDS14666.1	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070052	0.76301	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93076	-3.16;-3.16	5.13	5.13	0.70059	.	0.165500	0.53938	D	0.000055	D	0.96485	0.8853	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.77004	0.989;0.846	D	0.97134	0.9820	10	0.87932	D	0	.	16.2347	0.82365	0.0:1.0:0.0:0.0	.	139;177	Q5FBE1;P00740	.;FA9_HUMAN	L	177;139	ENSP00000218099:P177L;ENSP00000377650:P139L	ENSP00000218099:P177L	P	+	2	0	F9	138460896	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.515000	0.60489	2.136000	0.66102	0.529000	0.55759	CCA	F9	-	pirsf_Pept_S1A_FX		0.368	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F9	HGNC	protein_coding	OTTHUMT00000058557.1	C			138633230	1	no_errors	ENST00000218099	ensembl	human	known	70_37	missense	SNP	1.000	T	T	138633230	C	T	138633230	3	4	172	1	0	0	0	0	1	0	0	0	5366	594	21	4	552	4	F9	23	138633230	Missense_Mutation	SNP	C	TCGA-LP-A5U3-01A-11D-A28B-09	36723037	138633230	16637330	53	32607										
GABRD	2563	genome.wustl.edu	37	chr1	1961582	1961582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gacgaagaaggagggggcagCccgctcaggaggccaggggg	21	9	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:1961582C>A	ENST00000378585.4	+	9	1303	c.1220C>A	c.(1219-1221)gCc>gAc	p.A407D		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	407					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGGGGGCAGCCCGCTCAGGA	0.697																																																	0													38	39	38					1																	1961582		2201	4290	6491	SO:0001583	missense	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1220C>A	1.37:g.1961582C>A	ENSP00000367848:p.Ala407Asp		Q8N4N9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A407D	ENST00000378585.4	37	c.1220	CCDS36.1	1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.509019	0.00984	.	.	ENSG00000187730	ENST00000378585	D	0.84146	-1.81	3.24	2.3	0.28687	Neurotransmitter-gated ion-channel transmembrane domain (1);	3.754360	0.00721	N	0.000884	T	0.67477	0.2897	N	0.03608	-0.345	0.09310	N	1	B	0.23185	0.081	B	0.22152	0.038	T	0.62229	-0.6898	10	0.12103	T	0.63	-17.184	4.2747	0.10802	0.0:0.616:0.2431:0.1408	.	407	O14764	GBRD_HUMAN	D	407	ENSP00000367848:A407D	ENSP00000367848:A407D	A	+	2	0	GABRD	1951442	0.002000	0.14202	0.019000	0.16419	0.052000	0.14988	0.150000	0.16263	0.686000	0.31488	0.491000	0.48974	GCC	GABRD	-	superfamily_Neurotrans-gated_channel_TM		0.697	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1961582	1	no_errors	ENST00000378585	ensembl	human	known	70_37	missense	SNP	0.001	A	A	1961582	C	A	1961582	3	1	173	1	0	0	0	0	1	0	0	0	6187	739	26	4	1254	4	GABRD	1	1961582	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		1961582	247289039	1	32608										
TP73	7161	genome.wustl.edu	37	chr1	3638726	3638726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cggagcacgtgaccgacgtcGtgaaacgctgccccaaccac	11	16	0	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:3638726G>A	ENST00000378295.4	+	5	726	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	TP73_ENST00000378280.1_Missense_Mutation_p.V142M|TP73_ENST00000357733.3_Missense_Mutation_p.V191M|TP73_ENST00000378285.1_Missense_Mutation_p.V142M|TP73_ENST00000346387.4_Missense_Mutation_p.V191M|TP73_ENST00000378288.4_Missense_Mutation_p.V142M|TP73_ENST00000604074.1_Missense_Mutation_p.V191M|TP73_ENST00000603362.1_Missense_Mutation_p.V191M|TP73_ENST00000378290.4_Missense_Mutation_p.V120M|TP73_ENST00000604479.1_Missense_Mutation_p.V191M|TP73_ENST00000354437.4_Missense_Mutation_p.V191M	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	191	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GACCGACGTCGTGAAACGCTG	0.647																																																	0													68	62	64					1																	3638726		2201	4298	6499	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.571G>A	1.37:g.3638726G>A	ENSP00000367545:p.Val191Met		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.V191M	ENST00000378295.4	37	c.571	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.110893	0.37242	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	3.12	2.2	0.27929	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.302849	0.30584	N	0.009315	D	0.99843	0.9928	M	0.90483	3.12	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	P;D;D;D;D;D	0.76575	0.889;0.988;0.932;0.909;0.968;0.96	D	0.97404	0.9998	10	0.87932	D	0	-10.3824	11.5626	0.50785	0.0:0.1826:0.8174:0.0	.	142;142;142;142;191;191	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	M	191;191;191;191;142;142;142;120	ENSP00000367545:V191M;ENSP00000346423:V191M;ENSP00000350366:V191M;ENSP00000340740:V191M;ENSP00000367537:V142M;ENSP00000367534:V142M;ENSP00000367529:V142M;ENSP00000367539:V120M	ENSP00000340740:V191M	V	+	1	0	TP73	3628586	1.000000	0.71417	0.397000	0.26308	0.045000	0.14185	7.540000	0.82074	0.668000	0.31126	-0.323000	0.08544	GTG	TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.647	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	G	NM_005427		3638726	1	no_errors	ENST00000378295	ensembl	human	known	70_37	missense	SNP	1.000	A	A	3638726	G	A	3638726	3	1	173	1	0	0	0	0	1	0	0	0	16424	1145	40	2	628	2	TP73	1	3638726	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	1677144	3638726	245611895	2	32609										
NPHP4	261734	genome.wustl.edu	37	chr1	5993304	5993304	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gaggcagggtcacccttccaGaatcagcttccagcaagggg	13	12	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:5993304G>T	ENST00000378156.4	-	10	1470	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	402					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCTTCCAGAATCAGCTTC	0.562																																																	0													55	59	58					1																	5993304		1990	4158	6148	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1205C>A	1.37:g.5993304G>T	ENSP00000367398:p.Ser402Tyr		Q8IWC0	Missense_Mutation	SNP	NULL	p.S402Y	ENST00000378156.4	37	c.1205	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720278	0.30503	.	.	ENSG00000131697	ENST00000378156	D	0.88201	-2.35	4.5	2.5	0.30297	.	0.451473	0.20503	N	0.091046	D	0.90469	0.7015	L	0.57536	1.79	0.09310	N	1	D	0.63880	0.993	P	0.61592	0.891	T	0.81680	-0.0823	10	0.59425	D	0.04	.	7.6021	0.28081	0.0962:0.0:0.7361:0.1677	.	402	O75161	NPHP4_HUMAN	Y	402	ENSP00000367398:S402Y	ENSP00000367398:S402Y	S	-	2	0	NPHP4	5915891	0.100000	0.21855	0.001000	0.08648	0.183000	0.23260	2.841000	0.48223	0.964000	0.38108	0.655000	0.94253	TCT	NPHP4	-	NULL		0.562	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	G			5993304	-1	no_errors	ENST00000378156	ensembl	human	known	70_37	missense	SNP	0.001	T	T	5993304	G	T	5993304	3	4	173	1	0	0	0	0	1	0	0	0	10605	942	33	3	3159	3	NPHP4	1	5993304	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	2354578	5993304	243257317	3	32610										
TMEM51	55092	genome.wustl.edu	37	chr1	15545935	15545935	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gggagaggagcagaacccgaGgttgagcatctctctcccgt	14	11	2	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:15545935G>C	ENST00000428417.1	+	3	904	c.458G>C	c.(457-459)aGg>aCg	p.R153T	TMEM51_ENST00000400796.3_Missense_Mutation_p.R153T|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376008.2_Missense_Mutation_p.R153T|TMEM51_ENST00000376014.3_Missense_Mutation_p.R153T	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	153						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CAGAACCCGAGGTTGAGCATC	0.592																																																	0													95	91	92					1																	15545935		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.458G>C	1.37:g.15545935G>C	ENSP00000394899:p.Arg153Thr		A8K819	Missense_Mutation	SNP	NULL	p.R153T	ENST00000428417.1	37	c.458	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798002	0.31777	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.63	5.63	0.86233	.	0.186843	0.64402	D	0.000006	T	0.40222	0.1108	L	0.59436	1.845	0.34678	D	0.72437	D	0.53885	0.963	P	0.48270	0.572	T	0.46596	-0.9180	10	0.27082	T	0.32	-10.6072	18.6706	0.91510	0.0:0.0:1.0:0.0	.	153	Q9NW97	TMM51_HUMAN	T	153	ENSP00000394899:R153T;ENSP00000365182:R153T;ENSP00000383600:R153T;ENSP00000365176:R153T	ENSP00000303666:R153T	R	+	2	0	TMEM51	15418522	1.000000	0.71417	0.262000	0.24481	0.249000	0.25844	8.489000	0.90461	2.665000	0.90641	0.555000	0.69702	AGG	TMEM51	-	NULL		0.592	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	G	NM_018022		15545935	1	no_errors	ENST00000376008	ensembl	human	known	70_37	missense	SNP	0.527	C	C	15545935	G	C	15545935	3	2	173	1	0	0	0	0	1	0	0	0	16207	1000	35	4	464	4	TMEM51	1	15545935	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	9552631	15545935	233704686	4	32611										
ARHGEF10L	55160	genome.wustl.edu	37	chr1	18023599	18023599	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cacctcccgggcccgctgctCtccatgcgggagccggcgcc	13	20	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:18023599C>T	ENST00000361221.3	+	29	3723	c.3564C>T	c.(3562-3564)ctC>ctT	p.L1188L	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.L891L|ARHGEF10L_ENST00000375415.1_Silent_p.L1149L|ARHGEF10L_ENST00000375408.3_Silent_p.L961L|ARHGEF10L_ENST00000452522.1_Silent_p.L1149L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1188						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCGCTGCTCTCCATGCGGG	0.677																																																	0													13	14	14					1																	18023599		2188	4283	6471	SO:0001819	synonymous_variant	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3564C>T	1.37:g.18023599C>T			B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.L1188	ENST00000361221.3	37	c.3564	CCDS182.1	1																																																																																			ARHGEF10L	-	NULL		0.677	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	C	NM_018125		18023599	1	no_errors	ENST00000361221	ensembl	human	known	70_37	silent	SNP	0.887	T	T	18023599	C	T	18023599	2	4	173	1	0	0	0	0	0	0	0	1	895	900	32	1		1	ARHGEF10L	1	18023599	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	2477664	18023599	231227022	5	32612										
IL22RA1	58985	genome.wustl.edu	37	chr1	24454745	24454745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggtcaggccgaagaactcatAttctctctgcttccctccaa	7	14	4	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:24454745A>G	ENST00000270800.1	-	5	594	c.556T>C	c.(556-558)Tat>Cat	p.Y186H		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	186	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AAGAACTCATATTCTCTCTGC	0.532																																																	0													134	120	124					1																	24454745		2203	4300	6503	SO:0001583	missense	58985			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.556T>C	1.37:g.24454745A>G	ENSP00000270800:p.Tyr186His		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y186H	ENST00000270800.1	37	c.556	CCDS247.1	1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843189	0.32606	.	.	ENSG00000142677	ENST00000270800	T	0.42513	0.97	5.06	5.06	0.68205	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.398005	0.26112	N	0.026263	T	0.49355	0.1552	L	0.32530	0.975	0.34645	D	0.721063	D;D	0.76494	0.999;0.999	D;D	0.80764	0.989;0.994	T	0.56450	-0.7977	10	0.23891	T	0.37	-12.5635	11.2196	0.48846	1.0:0.0:0.0:0.0	.	78;186	B4E2V9;Q8N6P7	.;I22R1_HUMAN	H	186	ENSP00000270800:Y186H	ENSP00000270800:Y186H	Y	-	1	0	IL22RA1	24327332	0.977000	0.34250	0.972000	0.41901	0.493000	0.33554	1.553000	0.36255	1.894000	0.54839	0.460000	0.39030	TAT	IL22RA1	-	pfam_Interferon_alpha/beta_rcpt_bsu		0.532	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	A			24454745	-1	no_errors	ENST00000270800	ensembl	human	known	70_37	missense	SNP	0.998	G	G	24454745	A	G	24454745	3	3	173	1	0	0	0	0	1	0	0	0	7693	449	16	5	1180	5	IL22RA1	1	24454745	Missense_Mutation	SNP	A	TCGA-LP-A7HU-01A-11D-A33O-09	6431146	24454745	224795876	6	32613										
PTPRU	10076	genome.wustl.edu	37	chr1	29641984	29641984	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tttacaactgtgtgaagactCtctgctcccggcgtgtcaac	9	12	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:29641984C>G	ENST00000345512.3	+	24	3487	c.3358C>G	c.(3358-3360)Ctc>Gtc	p.L1120V	PTPRU_ENST00000323874.8_Missense_Mutation_p.L1116V|PTPRU_ENST00000373779.3_Missense_Mutation_p.L1110V|PTPRU_ENST00000428026.2_Missense_Mutation_p.L1107V|PTPRU_ENST00000356870.3_Missense_Mutation_p.L1116V|PTPRU_ENST00000460170.2_Missense_Mutation_p.L1116V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1120	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGTGAAGACTCTCTGCTCCCG	0.567																																																	0													135	125	128					1																	29641984		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3358C>G	1.37:g.29641984C>G	ENSP00000334941:p.Leu1120Val		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L1120V	ENST00000345512.3	37	c.3358	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042536	0.75732	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	4.66	3.73	0.42828	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.90803	0.7112	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.999	D	0.90627	0.4564	9	.	.	.	.	13.5615	0.61793	0.1569:0.8431:0.0:0.0	.	1107;1116;1110;1116;1120	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	1120;1110;1116;1116;1107;1116	ENSP00000334941:L1120V;ENSP00000362884:L1110V;ENSP00000349333:L1116V;ENSP00000314987:L1116V;ENSP00000392332:L1107V;ENSP00000432906:L1116V	.	L	+	1	0	PTPRU	29514571	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.931000	0.70113	1.292000	0.44672	0.561000	0.74099	CTC	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.567	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	C			29641984	1	no_errors	ENST00000345512	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29641984	C	G	29641984	3	3	173	1	0	0	0	0	1	0	0	0	12843	913	32	1	3474	1	PTPRU	1	29641984	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	5187239	29641984	219608637	7	32614										
PHC2	1912	genome.wustl.edu	37	chr1	33832940	33832940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccgcccggcgtgggtttcagGgccaagctgggcaggacagg	18	12	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:33832940G>A	ENST00000257118.5	-	6	806	c.753C>T	c.(751-753)gcC>gcT	p.A251A	PHC2_ENST00000419414.2_Silent_p.A251A|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.A222A	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	251					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGTTTCAGGGCCAAGCTGG	0.637											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61	80	73					1																	33832940		2203	4298	6501	SO:0001819	synonymous_variant	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.753C>T	1.37:g.33832940G>A		843	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.A251	ENST00000257118.5	37	c.753	CCDS378.1	1																																																																																			PHC2	-	NULL		0.637	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33832940	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33832940	G	A	33832940	2	1	173	1	0	0	0	0	0	0	0	1	11841	1219	43	4		4	PHC2	1	33832940	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	4190956	33832940	215417681	8	32615										
HEYL	26508	genome.wustl.edu	37	chr1	40092744	40092744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gaatccggacggggtctgcaCggctgctgggcccttcaagg	16	12	2	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:40092744C>T	ENST00000372852.3	-	5	741	c.422G>A	c.(421-423)cGt>cAt	p.R141H	HEYL_ENST00000535435.1_Missense_Mutation_p.R113H	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	141	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGGTCTGCACGGCTGCTGGG	0.642																																																	0													46	45	46					1																	40092744		2203	4300	6503	SO:0001583	missense	26508			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"Basic helix-loop-helix proteins"	4882	protein-coding gene	gene with protein product	"hairy/enhancer-of-split related with YRPW motif 3"	609034	"hairy/enhancer-of-split related with YRPW motif-like"			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.422G>A	1.37:g.40092744C>T	ENSP00000361943:p.Arg141His		Q5TG99	Missense_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.R141H	ENST00000372852.3	37	c.422	CCDS439.1	1	.	.	.	.	.	.	.	.	.	.	C	7.924	0.739177	0.15642	.	.	ENSG00000163909	ENST00000372852;ENST00000535435	T;T	0.59906	0.24;0.23	3.63	1.74	0.24563	Orange subgroup (1);Orange (2);	0.355383	0.32687	N	0.005773	T	0.24198	0.0586	N	0.02011	-0.69	0.21782	N	0.999541	B	0.21452	0.056	B	0.15052	0.012	T	0.13683	-1.0500	10	0.30854	T	0.27	-28.5792	5.4823	0.16731	0.0:0.7383:0.0:0.2617	.	141	Q9NQ87	HEYL_HUMAN	H	141;113	ENSP00000361943:R141H;ENSP00000439071:R113H	ENSP00000361943:R141H	R	-	2	0	HEYL	39865331	0.231000	0.23751	0.987000	0.45799	0.710000	0.40934	1.016000	0.29976	0.509000	0.28195	-0.369000	0.07265	CGT	HEYL	-	pfam_Orange,smart_Orange_subgr,pfscan_Orange		0.642	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEYL	HGNC	protein_coding	OTTHUMT00000001179.2	C	NM_014571		40092744	-1	no_errors	ENST00000372852	ensembl	human	known	70_37	missense	SNP	0.334	T	T	40092744	C	T	40092744	3	4	173	1	0	0	0	0	1	0	0	0	7100	536	19	2	568	2	HEYL	1	40092744	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	6259804	40092744	209157877	9	32616										
MOBKL2C	148932	genome.wustl.edu	37	chr1	47080684	47080684	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccatcccgactcttcgacttCtcacccaaagaagtccccag	5	18	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:47080684C>T	ENST00000319928.3	-	2	181				MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.R22K|MOB3C_ENST00000371940.1_5'UTR|MOB3C_ENST00000477318.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C								metal ion binding (GO:0046872)										TCTTCGACTTCTCACCCAAAG	0.473																																																	0													82	83	82					1																	47080684		2203	4300	6503	SO:0001627	intron_variant	148932			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.50-1641G>A	1.37:g.47080684C>T			D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.R22K	ENST00000319928.3	37	c.65	CCDS540.1	1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463899	0.43736	.	.	ENSG00000142961	ENST00000271139	.	.	.	3.5	1.55	0.23275	.	.	.	.	.	T	0.54711	0.1875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	5	0.42905	T	0.14	.	4.6686	0.12678	0.0:0.6485:0.2265:0.1251	.	.	.	.	K	22	.	ENSP00000271139:R22K	R	-	2	0	MOBKL2C	46853271	0.830000	0.29337	0.644000	0.29465	0.155000	0.21991	1.219000	0.32479	0.442000	0.26555	0.655000	0.94253	AGA	MOB3C	-	NULL		0.473	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3C	HGNC	protein_coding		C	NM_145279		47080684	-1	no_errors	ENST00000271139	ensembl	human	known	70_37	missense	SNP	0.928	T	T	47080684	C	T	47080684	1	4	173	0	1	0	0	0	0	0	0	0	9709	913	32	1		1	MOBKL2C	1	47080684	Intron	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	6987940	47080684	202169937	10	32617										
SLC25A24	29957	genome.wustl.edu	37	chr1	108735196	108735196	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aaaatgtccaaggtcccatcCttgttatagtccaggtacca	7	11	0	0	rs150343087	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:108735196C>A	ENST00000565488.1	-	2	403				SLC25A24_ENST00000370041.4_Missense_Mutation_p.K16N	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24						ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		AGGTCCCATCCTTGTTATAGT	0.562																																																	0													233	217	223					1																	108735196		2182	4133	6315	SO:0001627	intron_variant	29957			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.184-6620G>T	1.37:g.108735196C>A			B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,pfam_EF-hand,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.K16N	ENST00000565488.1	37	c.48	CCDS41361.1	1	.	.	.	.	.	.	.	.	.	.	C	4.066	0.010017	0.07912	.	.	ENSG00000085491	ENST00000370041	T	0.70399	-0.48	3.48	-6.96	0.01622	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.08106	-1.0738	8	0.18276	T	0.48	.	2.8286	0.05492	0.1357:0.4097:0.2752:0.1793	.	16	Q6NUK1-2	.	N	16	ENSP00000359058:K16N	ENSP00000359058:K16N	K	-	3	2	SLC25A24	108536719	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.700000	0.01905	-1.779000	0.01280	-0.339000	0.08088	AAG	SLC25A24	-	smart_EF_hand_Ca-bd		0.562	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	SLC25A24	HGNC	protein_coding	OTTHUMT00000030280.2	C	NM_013386		108735196	-1	no_errors	ENST00000370041	ensembl	human	known	70_37	missense	SNP	0.000	A	A	108735196	C	A	108735196	1	1	173	0	1	0	0	0	0	0	0	0	14517	680	24	4		4	SLC25A24	1	108735196	Intron	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	61654512	108735196	140515425	11	32618										
MAGI3	260425	genome.wustl.edu	37	chr1	114216044	114216044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	catggggctgttcatccttcGtcttgctgaagatggtcctg	12	10	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:114216044G>A	ENST00000307546.9	+	19	3221	c.3146G>A	c.(3145-3147)cGt>cAt	p.R1049H	MAGI3_ENST00000369615.1_Missense_Mutation_p.R1049H|MAGI3_ENST00000369617.4_Missense_Mutation_p.R1074H|MAGI3_ENST00000369611.4_Missense_Mutation_p.R1049H	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1074	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCATCCTTCGTCTTGCTGAA	0.502																																																	0													121	125	123					1																	114216044		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3146G>A	1.37:g.114216044G>A	ENSP00000304604:p.Arg1049His		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1049H	ENST00000307546.9	37	c.3146	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.546045	0.96488	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.99	5.99	0.97316	.	0.050257	0.85682	D	0.000000	T	0.49218	0.1544	L	0.58302	1.8	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.993;1.0	T	0.44877	-0.9299	10	0.87932	D	0	-7.2676	20.4753	0.99175	0.0:0.0:1.0:0.0	.	1049;1049;1074	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	H	1074;1049;1049;1049;89	ENSP00000358630:R1074H;ENSP00000304604:R1049H;ENSP00000358628:R1049H;ENSP00000358624:R1049H	ENSP00000304604:R1049H	R	+	2	0	MAGI3	114017567	1.000000	0.71417	0.862000	0.33874	0.936000	0.57629	9.869000	0.99810	2.844000	0.97970	0.650000	0.86243	CGT	MAGI3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.502	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114216044	1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114216044	G	A	114216044	3	1	173	1	0	0	0	0	1	0	0	0	9215	1145	40	2	3220	2	MAGI3	1	114216044	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	5480848	114216044	135034577	12	32619										
SELL	6402	genome.wustl.edu	37	chr1	169677817	169677817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttctccagatactcaatttcCgccttgttttgtatggcaac	6	11	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:169677817C>T	ENST00000236147.4	-	3	412	c.252G>A	c.(250-252)gcG>gcA	p.A84A	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	71	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ACTCAATTTCCGCCTTGTTTT	0.443																																																	0													69	61	64					1																	169677817		1868	4107	5975	SO:0001819	synonymous_variant	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.252G>A	1.37:g.169677817C>T			B2R6Q8|P15023|Q9UJ43	Silent	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.A84	ENST00000236147.4	37	c.252	CCDS53427.1	1																																																																																			SELL	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin		0.443	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	C	NM_000655		169677817	-1	no_errors	ENST00000236147	ensembl	human	known	70_37	silent	SNP	0.071	T	T	169677817	C	T	169677817	2	4	173	1	0	0	0	0	0	0	0	1	14046	639	23	2		2	SELL	1	169677817	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	55461773	169677817	79572804	13	32620										
LAMC1	3915	genome.wustl.edu	37	chr1	183077436	183077436	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggtaactgccactgacatcaGagtaactcttaatcgcctga	8	11	2	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:183077436G>C	ENST00000258341.4	+	3	1006	c.749G>C	c.(748-750)aGa>aCa	p.R250T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	250	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R250K(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACTGACATCAGAGTAACTCTT	0.378																																																	2	Substitution - Missense(2)	prostate(2)											141	134	136					1																	183077436		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.749G>C	1.37:g.183077436G>C	ENSP00000258341:p.Arg250Thr		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R250T	ENST00000258341.4	37	c.749	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780765	0.70222	.	.	ENSG00000135862	ENST00000258341	D	0.84660	-1.88	4.43	4.43	0.53597	Laminin, N-terminal (3);	0.049079	0.85682	D	0.000000	D	0.92760	0.7698	M	0.90082	3.085	0.54753	D	0.999987	D	0.58268	0.982	P	0.59825	0.864	D	0.94604	0.7798	10	0.87932	D	0	.	17.421	0.87515	0.0:0.0:1.0:0.0	.	250	P11047	LAMC1_HUMAN	T	250	ENSP00000258341:R250T	ENSP00000258341:R250T	R	+	2	0	LAMC1	181344059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.503000	0.60407	2.179000	0.69175	0.467000	0.42956	AGA	LAMC1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.378	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	G	NM_002293		183077436	1	no_errors	ENST00000258341	ensembl	human	known	70_37	missense	SNP	1.000	C	C	183077436	G	C	183077436	3	2	173	1	0	0	0	0	1	0	0	0	8634	942	33	1	759	1	LAMC1	1	183077436	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	13399619	183077436	66173185	14	32621										
TLR5	7100	genome.wustl.edu	37	chr1	223286248	223286248	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tcagtggtgttgaggacctgGgggacctgggtgaggttgca	19	6	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr1:223286248G>C	ENST00000540964.1	-	4	587	c.126C>G	c.(124-126)ccC>ccG	p.P42P	TLR5_ENST00000342210.6_Silent_p.P42P			O60602	TLR5_HUMAN	toll-like receptor 5	42					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGAGGACCTGGGGGACCTGGG	0.537																																																	0													61	62	62					1																	223286248		2203	4300	6503	SO:0001819	synonymous_variant	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.126C>G	1.37:g.223286248G>C			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.P42	ENST00000540964.1	37	c.126	CCDS31033.1	1																																																																																			TLR5	-	NULL		0.537	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		G	NM_003268		223286248	-1	no_errors	ENST00000342210	ensembl	human	known	70_37	silent	SNP	0.287	C	C	223286248	G	C	223286248	2	2	173	1	0	0	0	0	0	0	0	1	15984	1219	43	4		4	TLR5	1	223286248	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	40208812	223286248	25964373	15	32622										
APOB	338	genome.wustl.edu	37	chr2	21228795	21228795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttcttggtcattggaaagctCgacctggctctggaaagacc	11	10	3	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:21228795C>T	ENST00000233242.1	-	26	11072	c.10945G>A	c.(10945-10947)Gag>Aag	p.E3649K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3649					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAAAGCTCGACCTGGCTC	0.458																																																	0													71	69	69					2																	21228795		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10945G>A	2.37:g.21228795C>T	ENSP00000233242:p.Glu3649Lys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E3649K	ENST00000233242.1	37	c.10945	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610519	0.28712	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.66638	-0.22	5.75	3.93	0.45458	.	0.226096	0.30820	N	0.008814	T	0.45135	0.1327	N	0.14661	0.345	0.28289	N	0.923637	B	0.19583	0.037	B	0.10450	0.005	T	0.25537	-1.0129	10	0.14252	T	0.57	.	10.8474	0.46751	0.0:0.3007:0.5738:0.1255	.	3649	P04114	APOB_HUMAN	K	3649	ENSP00000233242:E3649K	ENSP00000233242:E3649K	E	-	1	0	APOB	21082300	0.963000	0.33076	0.476000	0.27291	0.232000	0.25224	2.420000	0.44679	0.752000	0.32923	0.655000	0.94253	GAG	APOB	-	NULL		0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21228795	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.245	T	T	21228795	C	T	21228795	3	4	173	1	0	0	0	0	1	0	0	0	785	893	31	1	2762	1	APOB	2	21228795	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		21228795	221970578	16	32623										
POMC	5443	genome.wustl.edu	37	chr2	25387630	25387630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gcccccgagcggctgcagcaCgatctcggcatcttccaggc	12	17	2	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:25387630C>T	ENST00000405623.1	-	2	467	c.12G>A	c.(10-12)tcG>tcA	p.S4S	POMC_ENST00000264708.3_Silent_p.S4S|POMC_ENST00000395826.2_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S			P01189	COLI_HUMAN	proopiomelanocortin	4					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GGCTGCAGCACGATCTCGGCA	0.607																																					Colon(110;1515 1566 8452 10082 43216)												0													37	40	39					2																	25387630		2201	4299	6500	SO:0001819	synonymous_variant	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.12G>A	2.37:g.25387630C>T			P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.S4	ENST00000405623.1	37	c.12	CCDS1717.1	2																																																																																			POMC	-	NULL		0.607	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	C	NM_001035256		25387630	-1	no_errors	ENST00000264708	ensembl	human	known	70_37	silent	SNP	0.000	T	T	25387630	C	T	25387630	2	4	173	1	0	0	0	0	0	0	0	1	12266	523	19	2		2	POMC	2	25387630	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	4158835	25387630	217811743	17	32624										
AGBL5	60509	genome.wustl.edu	37	chr2	27281371	27281371	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccttactaatctacgggcctGgatgctgaaacatgtacgca	9	11	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:27281371G>A	ENST00000360131.4	+	10	1934	c.1775G>A	c.(1774-1776)tGg>tAg	p.W592*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.W592*|AGBL5-IT1_ENST00000411862.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	592					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACGGGCCTGGATGCTGAAA	0.542																																																	0													126	107	113					2																	27281371		2203	4300	6503	SO:0001587	stop_gained	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1775G>A	2.37:g.27281371G>A	ENSP00000353249:p.Trp592*		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Nonsense_Mutation	SNP	pfam_Peptidase_M14	p.W592*	ENST00000360131.4	37	c.1775	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	39	7.855342	0.98528	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	.	.	.	5.79	5.79	0.91817	.	0.055041	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8204	19.635	0.95728	0.0:0.0:1.0:0.0	.	.	.	.	X	592	.	ENSP00000323681:W592X	W	+	2	0	AGBL5	27134875	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.059000	0.71133	2.733000	0.93635	0.655000	0.94253	TGG	AGBL5	-	NULL		0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27281371	1	no_errors	ENST00000360131	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27281371	G	A	27281371	4	1	173	1	0	0	0	0	0	1	0	0	378	1357	47	4	1809	4	AGBL5	2	27281371	Nonsense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	1893741	27281371	215918002	18	32625										
C2orf73	129852	genome.wustl.edu	37	chr2	54587459	54587460	+	Frame_Shift_Del	DEL	AG	AG	-													0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tcagaacagtccaaaaaaacAgagaaaggaaactcagcgga							TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:54587459_54587460delAG	ENST00000398634.2	+	5	666_667	c.624_625delAG	c.(622-627)acagagfs	p.E209fs	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	209										breast(2)	2						CCAAAAAAACAGAGAAAGGAAA	0.441																																																	0																																										SO:0001589	frameshift_variant	129852			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.624_625delAG	2.37:g.54587461_54587462delAG	ENSP00000381631:p.Glu209fs		A0AV79|A0AV81|Q8N7V4	Frame_Shift_Del	DEL	NULL	p.K210fs	ENST00000398634.2	37	c.624_625	CCDS46285.1	2																																																																																			C2orf73	-	NULL		0.441	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf73	HGNC	protein_coding	OTTHUMT00000324075.2	AG	NM_001100396		54587460	1	no_errors	ENST00000398634	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-	-	54587460	AG	-	54587459	7	5	173	1	0	1	0	1	0	0	0	0	2197	175	7	0	642	0	C2orf73	2	54587459	Frame_Shift_Del	DEL	AG	TCGA-LP-A7HU-01A-11D-A33O-09	27306088	54587459	188611914	19	32626										
MOGS	7841	genome.wustl.edu	37	chr2	74688764	74688764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gctccagagatggcggctgtCggctagaatgtccagcaggg	16	10	0	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:74688764C>T	ENST00000233616.4	-	4	2314	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Missense_Mutation_p.D612N|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	718					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGGCGGCTGTCGGCTAGAATG	0.582																																																	0													35	44	41					2																	74688764		2000	4187	6187	SO:0001583	missense	7841			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2152G>A	2.37:g.74688764C>T	ENSP00000233616:p.Asp718Asn		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like	p.D718N	ENST00000233616.4	37	c.2152	CCDS42700.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026266	0.75390	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.48836	0.8;0.8	5.15	5.15	0.70609	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56335	-0.7996	10	0.30854	T	0.27	-20.915	16.1595	0.81693	0.0:1.0:0.0:0.0	.	718	Q13724	MOGS_HUMAN	N	718;612	ENSP00000233616:D718N;ENSP00000388201:D612N	ENSP00000233616:D718N	D	-	1	0	MOGS	74542272	0.999000	0.42202	0.998000	0.56505	0.971000	0.66376	4.074000	0.57577	2.687000	0.91594	0.563000	0.77884	GAC	MOGS	-	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like		0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGS	HGNC	protein_coding	OTTHUMT00000328382.1	C	NM_006302		74688764	-1	no_errors	ENST00000233616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74688764	C	T	74688764	3	4	173	1	0	0	0	0	1	0	0	0	9720	884	31	1	365	1	MOGS	2	74688764	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	20101305	74688764	168510609	20	32627										
REG3A	5068	genome.wustl.edu	37	chr2	79385787	79385787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aaccactcacatctgcatctGtccaggattttggtgacaaa	7	11	3	1	rs77686105	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:79385787G>A	ENST00000409839.3	-	3	221	c.185C>T	c.(184-186)aCa>aTa	p.T62I	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.T62I|REG3A_ENST00000305165.2_Missense_Mutation_p.T62I	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	62	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATCTGCATCTGTCCAGGATTT	0.552																																																	0													130	118	122					2																	79385787		2203	4300	6503	SO:0001583	missense	5068			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"pancreatitis-associated protein"	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.185C>T	2.37:g.79385787G>A	ENSP00000386630:p.Thr62Ile			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T62I	ENST00000409839.3	37	c.185	CCDS1965.1	2	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025360	0.07589	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.19806	2.12;2.12;2.12	4.02	-4.6	0.03390	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.733660	0.02668	N	0.108266	T	0.11239	0.0274	N	0.17764	0.52	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16778	-1.0391	10	0.22706	T	0.39	.	3.4681	0.07557	0.425:0.0:0.2967:0.2784	.	62	Q06141	REG3A_HUMAN	I	62	ENSP00000386630:T62I;ENSP00000377456:T62I;ENSP00000304311:T62I	ENSP00000304311:T62I	T	-	2	0	REG3A	79239295	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.065000	0.03458	-0.910000	0.03847	-1.155000	0.01812	ACA	REG3A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3A	HGNC	protein_coding	OTTHUMT00000252290.2	G	NM_002580		79385787	-1	no_errors	ENST00000305165	ensembl	human	known	70_37	missense	SNP	0.000	A	A	79385787	G	A	79385787	3	1	173	1	0	0	0	0	1	0	0	0	13242	1377	48	4	358	4	REG3A	2	79385787	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	4697023	79385787	163813586	21	32628										
ARID5A	10865	genome.wustl.edu	37	chr2	97217767	97217767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tgtgcccccagaggcctacaGgggcaccatgctgcactgcc	12	16	0	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:97217767G>T	ENST00000357485.3	+	7	1580	c.1502G>T	c.(1501-1503)aGg>aTg	p.R501M	ARID5A_ENST00000454558.2_Missense_Mutation_p.R433M	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	501					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GAGGCCTACAGGGGCACCATG	0.692																																																	0													23	28	26					2																	97217767		2203	4299	6502	SO:0001583	missense	10865			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1502G>T	2.37:g.97217767G>T	ENSP00000350078:p.Arg501Met		Q6NX37	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R501M	ENST00000357485.3	37	c.1502	CCDS33251.1	2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833381	0.32421	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.67698	-0.28	4.78	2.98	0.34508	.	0.240415	0.29884	N	0.010942	T	0.70037	0.3178	M	0.63428	1.95	0.39754	D	0.971931	D;D;P	0.69078	0.997;0.975;0.914	P;P;P	0.55667	0.781;0.466;0.466	T	0.72984	-0.4125	10	0.87932	D	0	-40.1388	6.8847	0.24193	0.204:0.0:0.796:0.0	.	501;433;501	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	M	501;501;433	ENSP00000350078:R501M	ENSP00000350078:R501M	R	+	2	0	ARID5A	96581494	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.616000	0.36933	1.376000	0.46267	-0.143000	0.13931	AGG	ARID5A	-	NULL		0.692	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	HGNC	protein_coding	OTTHUMT00000338888.2	G	NM_212481		97217767	1	no_errors	ENST00000357485	ensembl	human	known	70_37	missense	SNP	1.000	T	T	97217767	G	T	97217767	3	4	173	1	0	0	0	0	1	0	0	0	921	1000	35	4	1528	4	ARID5A	2	97217767	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	17831980	97217767	145981606	22	32629										
LMAN2L	81562	genome.wustl.edu	37	chr2	97405604	97405604	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gcctcaccctggtagggcttCgacagcgagtgctcccgttt	12	14	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:97405604C>T	ENST00000264963.4	-	1	196	c.174G>A	c.(172-174)tcG>tcA	p.S58S	LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.S58S|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	58	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GGTAGGGCTTCGACAGCGAGT	0.627																																																	0													65	62	63					2																	97405604		2203	4300	6503	SO:0001819	synonymous_variant	81562			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.174G>A	2.37:g.97405604C>T			B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.S58	ENST00000264963.4	37	c.174	CCDS2023.1	2																																																																																			LMAN2L	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf		0.627	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMAN2L	HGNC	protein_coding	OTTHUMT00000252844.1	C	NM_030805		97405604	-1	no_errors	ENST00000377079	ensembl	human	known	70_37	silent	SNP	1.000	T	T	97405604	C	T	97405604	2	4	173	1	0	0	0	0	0	0	0	1	8860	871	31	1		1	LMAN2L	2	97405604	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	187837	97405604	145793769	23	32630										
GCC2	9648	genome.wustl.edu	37	chr2	109067510	109067510	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	acattgcccaaagaagacctCatcaagtttgccaagaaaca	6	11	2	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:109067510C>T	ENST00000309863.6	+	3	804	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	30					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGAAGACCTCATCAAGTTTG	0.358																																																	0													118	110	112					2																	109067510		2203	4300	6503	SO:0001819	synonymous_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.90C>T	2.37:g.109067510C>T			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.L30	ENST00000309863.6	37	c.90	CCDS33268.1	2																																																																																			GCC2	-	NULL		0.358	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	C	NM_014635		109067510	1	no_errors	ENST00000309863	ensembl	human	known	70_37	silent	SNP	1.000	T	T	109067510	C	T	109067510	2	4	173	1	0	0	0	0	0	0	0	1	6305	813	29	1		1	GCC2	2	109067510	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	11661906	109067510	134131863	24	32631										
GALNT13	114805	genome.wustl.edu	37	chr2	155102390	155102390	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttttgaatatatggctgggtCagacatgacttatgggggtt	13	4	1	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:155102390C>T	ENST00000392825.3	+	7	1319	c.752C>T	c.(751-753)tCa>tTa	p.S251L	GALNT13_ENST00000409237.1_Missense_Mutation_p.S251L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	251					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGGCTGGGTCAGACATGACT	0.403																																																	0													112	110	111					2																	155102390		2203	4300	6503	SO:0001583	missense	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.752C>T	2.37:g.155102390C>T	ENSP00000376570:p.Ser251Leu		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S251L	ENST00000392825.3	37	c.752	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.343491	0.95783	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.60171	0.21;0.21	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.87269	2.87	0.80722	D	1	P;D;P;D	0.63046	0.59;0.984;0.899;0.992	B;P;P;P	0.55785	0.261;0.704;0.771;0.784	T	0.80801	-0.1220	10	0.72032	D	0.01	.	18.32	0.90234	0.0:1.0:0.0:0.0	.	251;251;251;251	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	L	251	ENSP00000376570:S251L;ENSP00000387239:S251L	ENSP00000376570:S251L	S	+	2	0	GALNT13	154810636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.655000	0.90218	0.580000	0.79431	TCA	GALNT13	-	pfam_Glyco_trans_2		0.403	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	C	NM_052917		155102390	1	no_errors	ENST00000409237	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155102390	C	T	155102390	3	4	173	1	0	0	0	0	1	0	0	0	6230	838	29	1	770	1	GALNT13	2	155102390	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	46034880	155102390	88096983	25	32632										
GPR155	151556	genome.wustl.edu	37	chr2	175338010	175338010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cagaaaataaaccctataggGtttaacatcataagagatat	6	6	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:175338010G>A	ENST00000392552.2	-	3	781	c.543C>T	c.(541-543)aaC>aaT	p.N181N	GPR155_ENST00000392551.2_Silent_p.N181N|GPR155_ENST00000295500.4_Silent_p.N181N	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	181					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ACCCTATAGGGTTTAACATCA	0.338																																																	0													57	66	63					2																	175338010		2199	4298	6497	SO:0001819	synonymous_variant	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.543C>T	2.37:g.175338010G>A			B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.N181	ENST00000392552.2	37	c.543	CCDS2259.1	2																																																																																			GPR155	-	pfam_Auxin_eff		0.338	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	G	NM_152529		175338010	-1	no_errors	ENST00000295500	ensembl	human	known	70_37	silent	SNP	1.000	A	A	175338010	G	A	175338010	2	1	173	1	0	0	0	0	0	0	0	1	6679	1252	44	4		4	GPR155	2	175338010	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	20235620	175338010	67861363	26	32633										
TTN	7273	genome.wustl.edu	37	chr2	179410126	179410126	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggagctcacatgatggttctCtgcatgagatgaagttggaa	13	6	2	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:179410126C>T	ENST00000591111.1	-	294	91012	c.90788G>A	c.(90787-90789)aGa>aAa	p.R30263K	TTN_ENST00000342992.6_Missense_Mutation_p.R29336K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31904K|TTN_ENST00000359218.5_Missense_Mutation_p.R22964K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22839K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23031K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30263	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGTTCTCTGCATGAGAT	0.433																																																	0													91	91	91					2																	179410126		1964	4146	6110	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90788G>A	2.37:g.179410126C>T	ENSP00000465570:p.Arg30263Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R29336K	ENST00000591111.1	37	c.88007		2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166531	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	6.03	4.03	0.46877	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30324	0.0761	N	0.11064	0.09	0.31688	N	0.642256	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.26643	-1.0097	9	0.87932	D	0	.	4.3328	0.11071	0.0:0.5738:0.0:0.4262	.	22839;22964;23031;30263	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	29336;22839;23031;22964;22836	ENSP00000343764:R29336K;ENSP00000434586:R22839K;ENSP00000340554:R23031K;ENSP00000352154:R22964K	ENSP00000340554:R23031K	R	-	2	0	TTN	179118372	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.109000	0.31135	1.572000	0.49736	0.557000	0.71058	AGA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179410126	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179410126	C	T	179410126	3	4	173	1	0	0	0	0	1	0	0	0	16766	913	32	1	12344	1	TTN	2	179410126	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	4072116	179410126	63789247	27	32634										
TTN	7273	genome.wustl.edu	37	chr2	179428176	179428176	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aaggcatcacacgcacggtaGaaaacagatggctcactagg	11	10	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:179428176G>T	ENST00000591111.1	-	276	77984	c.77760C>A	c.(77758-77760)ttC>ttA	p.F25920L	TTN_ENST00000342992.6_Missense_Mutation_p.F24993L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F27561L|TTN_ENST00000359218.5_Missense_Mutation_p.F18621L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F18496L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F18688L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25920	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACGGTAGAAAACAGATG	0.512																																																	0													75	75	75					2																	179428176		1985	4159	6144	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77760C>A	2.37:g.179428176G>T	ENSP00000465570:p.Phe25920Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F24993L	ENST00000591111.1	37	c.74979		2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741037	0.30865	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.85	3.99	0.46301	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39226	0.1070	N	0.20881	0.62	0.46241	D	0.998943	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.20672	-1.0268	9	0.87932	D	0	.	11.9052	0.52708	0.0664:0.1226:0.811:0.0	.	18496;18621;18688;25920	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	24993;18496;18688;18621;18494	ENSP00000343764:F24993L;ENSP00000434586:F18496L;ENSP00000340554:F18688L;ENSP00000352154:F18621L	ENSP00000340554:F18688L	F	-	3	2	TTN	179136422	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.271000	0.65553	0.763000	0.33175	0.563000	0.77884	TTC	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.512	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179428176	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179428176	G	T	179428176	3	4	173	1	0	0	0	0	1	0	0	0	16766	933	33	3	25444	3	TTN	2	179428176	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	18050	179428176	63771197	28	32635										
TTN	7273	genome.wustl.edu	37	chr2	179440107	179440107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	acacattctaaccctttcacGgttgtgatgtgggtccactg	9	11	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:179440107G>A	ENST00000591111.1	-	276	66053	c.65829C>T	c.(65827-65829)acC>acT	p.T21943T	TTN_ENST00000342992.6_Silent_p.T21016T|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.T23584T|TTN_ENST00000359218.5_Silent_p.T14644T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.T14519T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T14711T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21943	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTTTCACGGTTGTGATGT	0.507																																																	0													107	103	104					2																	179440107		1989	4175	6164	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65829C>T	2.37:g.179440107G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T21016	ENST00000591111.1	37	c.63048		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179440107	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.012	A	A	179440107	G	A	179440107	2	1	173	1	0	0	0	0	0	0	0	1	16766	1103	39	2		2	TTN	2	179440107	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	11931	179440107	63759266	29	32636										
ASNSD1	54529	genome.wustl.edu	37	chr2	190531026	190531026	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tctgctcacgtcctacacttGaggggtgttttgactaccca	9	12	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:190531026G>T	ENST00000260952.4	+	4	581	c.168G>T	c.(166-168)ttG>ttT	p.L56F	ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	56	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TCCTACACTTGAGGGGTGTTT	0.383																																																	0													133	135	134					2																	190531026		2203	4300	6503	SO:0001583	missense	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.168G>T	2.37:g.190531026G>T	ENSP00000260952:p.Leu56Phe		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	pfam_Asn_synthase	p.L56F	ENST00000260952.4	37	c.168	CCDS2300.1	2	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552782	0.27739	.	.	ENSG00000138381	ENST00000260952;ENST00000425590;ENST00000420250	T;T	0.44083	0.93;0.94	5.86	0.075	0.14397	Glutamine amidotransferase, type II (1);	0.104089	0.64402	D	0.000006	T	0.38983	0.1061	M	0.86573	2.825	0.42641	D	0.993414	B	0.29508	0.246	B	0.26094	0.066	T	0.28933	-1.0028	10	0.52906	T	0.07	-5.4345	2.2334	0.04002	0.406:0.1197:0.3536:0.1207	.	56	Q9NWL6	ASND1_HUMAN	F	56	ENSP00000260952:L56F;ENSP00000406790:L56F	ENSP00000260952:L56F	L	+	3	2	ASNSD1	190239271	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	1.240000	0.32731	0.318000	0.23185	0.650000	0.86243	TTG	ASNSD1	-	NULL		0.383	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	G	NM_019048		190531026	1	no_errors	ENST00000260952	ensembl	human	known	70_37	missense	SNP	0.998	T	T	190531026	G	T	190531026	3	4	173	1	0	0	0	0	1	0	0	0	1050	1281	45	3	170	3	ASNSD1	2	190531026	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	11090919	190531026	52668347	30	32637										
PGAP1	80055	genome.wustl.edu	37	chr2	197784868	197784868	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tgccagtttctttggaagttCtattttctacatttaaaaaa	5	6	3	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:197784868C>G	ENST00000354764.4	-	2	268	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.E10Q|PGAP1_ENST00000409475.1_Missense_Mutation_p.E52Q	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	52					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TTTGGAAGTTCTATTTTCTAC	0.338																																																	0													104	108	107					2																	197784868		2203	4300	6503	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.154G>C	2.37:g.197784868C>G	ENSP00000346809:p.Glu52Gln		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.E52Q	ENST00000354764.4	37	c.154	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645353	0.14451	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	5.11	2.28	0.28536	.	0.543388	0.20851	N	0.084533	T	0.15046	0.0363	N	0.08118	0	0.24173	N	0.995616	B;B	0.18968	0.032;0.005	B;B	0.12837	0.008;0.003	T	0.24190	-1.0167	9	0.14252	T	0.57	-5.3558	6.7628	0.23550	0.0:0.3235:0.556:0.1204	.	52;52	Q75T13-3;Q75T13	.;PGAP1_HUMAN	Q	52;52;10	.	ENSP00000346809:E52Q	E	-	1	0	PGAP1	197493113	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.552000	0.23376	0.812000	0.34326	-0.176000	0.13171	GAA	PGAP1	-	NULL		0.338	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	C	NM_024989		197784868	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	missense	SNP	0.998	G	G	197784868	C	G	197784868	3	3	173	1	0	0	0	0	1	0	0	0	11801	922	32	1	2718	1	PGAP1	2	197784868	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	7253842	197784868	45414505	31	32638										
SLC16A14	151473	genome.wustl.edu	37	chr2	230902230	230902230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggaaaaatcatatttttgcgTgatgtcatagatccacccta	7	8	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:230902230T>C	ENST00000295190.4	-	5	1857	c.1399A>G	c.(1399-1401)Acg>Gcg	p.T467A		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	467						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TATTTTTGCGTGATGTCATAG	0.338																																																	0													88	87	87					2																	230902230		2203	4299	6502	SO:0001583	missense	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1399A>G	2.37:g.230902230T>C	ENSP00000295190:p.Thr467Ala		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T467A	ENST00000295190.4	37	c.1399	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232030	0.79688	.	.	ENSG00000163053	ENST00000295190	D	0.81499	-1.5	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000007	D	0.88811	0.6538	M	0.78456	2.415	0.51482	D	0.999929	D	0.57899	0.981	D	0.64237	0.923	D	0.89858	0.4014	10	0.62326	D	0.03	.	15.7623	0.78096	0.0:0.0:0.0:1.0	.	467	Q7RTX9	MOT14_HUMAN	A	467	ENSP00000295190:T467A	ENSP00000295190:T467A	T	-	1	0	SLC16A14	230610474	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.311000	0.59147	2.311000	0.77944	0.533000	0.62120	ACG	SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.338	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	T	NM_152527		230902230	-1	no_errors	ENST00000295190	ensembl	human	known	70_37	missense	SNP	1.000	C	C	230902230	T	C	230902230	3	2	173	1	0	0	0	0	1	0	0	0	14437	1696	59	5	137	5	SLC16A14	2	230902230	Missense_Mutation	SNP	T	TCGA-LP-A7HU-01A-11D-A33O-09	33117362	230902230	12297143	32	32639										
SP100	6672	genome.wustl.edu	37	chr2	231380185	231380185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tttatgaaaagaaggctgcaAagctgaaggaaaaatacaaa	9	4	0	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr2:231380185A>G	ENST00000264052.5	+	25	2825	c.2470A>G	c.(2470-2472)Aag>Gag	p.K824E	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	824					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		gaaggctgcaaagctgaagga	0.413																																																	0													30	31	30					2																	231380185		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2470A>G	2.37:g.231380185A>G	ENSP00000264052:p.Lys824Glu		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily	p.K824E	ENST00000264052.5	37	c.2470	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	A	13.22	2.171619	0.38315	.	.	ENSG00000067066	ENST00000264052	D	0.98044	-4.68	0.158	0.158	0.14942	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.96738	0.8935	L	0.42744	1.35	0.80722	D	1	P	0.38617	0.64	P	0.56216	0.794	D	0.93819	0.7117	9	0.87932	D	0	.	4.6578	0.12626	0.9996:0.0:4.0E-4:0.0	.	824	P23497	SP100_HUMAN	E	824	ENSP00000264052:K824E	ENSP00000264052:K824E	K	+	1	0	SP100	231088429	1.000000	0.71417	0.043000	0.18650	0.043000	0.13939	6.207000	0.72159	0.175000	0.19841	0.172000	0.16884	AAG	SP100	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.413	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	A	NM_003113		231380185	1	no_errors	ENST00000264052	ensembl	human	known	70_37	missense	SNP	1.000	G	G	231380185	A	G	231380185	3	3	173	1	0	0	0	0	1	0	0	0	14990	15	1	5	2568	5	SP100	2	231380185	Missense_Mutation	SNP	A	TCGA-LP-A7HU-01A-11D-A33O-09	477955	231380185	11819188	33	32640										
TATDN2	9797	genome.wustl.edu	37	chr3	10312129	10312129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cgcatgagtgattattccccCaactctacagggagtgtcca	9	12	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:10312129C>T	ENST00000287652.4	+	4	2314	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.P421P	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	421					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ATTATTCCCCCAACTCTACAG	0.572																																																	0													90	90	90					3																	10312129		2203	4300	6503	SO:0001819	synonymous_variant	9797			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1263C>T	3.37:g.10312129C>T			Q3MIL9|Q5BKU0	Silent	SNP	pfam_TatD_family	p.P421	ENST00000287652.4	37	c.1263	CCDS33698.1	3																																																																																			TATDN2	-	NULL		0.572	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	C	XM_376203		10312129	1	no_errors	ENST00000287652	ensembl	human	known	70_37	silent	SNP	0.000	T	T	10312129	C	T	10312129	2	4	173	1	0	0	0	0	0	0	0	1	15622	581	21	4		4	TATDN2	3	10312129	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		10312129	187710301	34	32641										
ARPP21	10777	genome.wustl.edu	37	chr3	35778726	35778726	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tatacaacccacccaccagtCagcagcccctgcgaagcgcc	7	19	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:35778726C>T	ENST00000187397.4	+	16	1972	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*	ARPP21_ENST00000417925.1_Nonsense_Mutation_p.Q472*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.Q472*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.Q452*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.Q452*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	506	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCCACCAGTCAGCAGCCCCT	0.602																																																	0													56	64	61					3																	35778726		2203	4300	6503	SO:0001587	stop_gained	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1516C>T	3.37:g.35778726C>T	ENSP00000187397:p.Gln506*		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q472*	ENST00000187397.4	37	c.1414	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.441318	0.98286	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-11.401	20.3053	0.98627	0.0:1.0:0.0:0.0	.	.	.	.	X	472;452;452;506;472	.	ENSP00000187397:Q506X	Q	+	1	0	ARPP21	35753730	1.000000	0.71417	0.987000	0.45799	0.795000	0.44927	5.680000	0.68168	2.808000	0.96608	0.655000	0.94253	CAG	ARPP21	-	NULL		0.602	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	C	NM_198399		35778726	1	no_errors	ENST00000417925	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	35778726	C	T	35778726	4	4	173	1	0	0	0	0	0	1	0	0	979	827	29	1	1583	1	ARPP21	3	35778726	Nonsense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	25466597	35778726	162243704	35	32642										
ZNF619	285267	genome.wustl.edu	37	chr3	40529636	40529636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccctcatctgaaaaggccaaCccttcacctgtccaaatagc	5	16	3	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:40529636C>A	ENST00000314686.5	+	6	1992	c.1587C>A	c.(1585-1587)aaC>aaA	p.N529K	ZNF619_ENST00000521353.1_Missense_Mutation_p.N585K|ZNF619_ENST00000432264.2_Missense_Mutation_p.N545K|ZNF619_ENST00000456778.1_Missense_Mutation_p.N501K|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000447116.2_Missense_Mutation_p.N585K|ZNF619_ENST00000522736.1_Missense_Mutation_p.N536K|ZNF619_ENST00000429348.2_Missense_Mutation_p.N545K			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AAAAGGCCAACCCTTCACCTG	0.522																																																	0													130	122	125					3																	40529636		2203	4300	6503	SO:0001583	missense	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1587C>A	3.37:g.40529636C>A	ENSP00000322529:p.Asn529Lys		B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N585K	ENST00000314686.5	37	c.1755		3	.	.	.	.	.	.	.	.	.	.	C	4.791	0.147133	0.09134	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.05580	3.42;3.5;3.67;3.45;3.42;3.5;3.67	1.93	-3.86	0.04230	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.45848	-0.9233	9	0.21540	T	0.41	.	4.4749	0.11731	0.0:0.462:0.228:0.31	.	501;545;585;487;536;529	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	K	529;585;545;501;166;536;585;545	ENSP00000322529:N529K;ENSP00000411132:N585K;ENSP00000398024:N545K;ENSP00000397232:N501K;ENSP00000428004:N536K;ENSP00000430705:N585K;ENSP00000388710:N545K	ENSP00000322529:N529K	N	+	3	2	ZNF619	40504640	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.323000	0.01117	-1.137000	0.02888	-2.010000	0.00438	AAC	ZNF619	-	NULL		0.522	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	C	NM_173656		40529636	1	no_errors	ENST00000447116	ensembl	human	known	70_37	missense	SNP	0.003	A	A	40529636	C	A	40529636	3	1	173	1	0	0	0	0	1	0	0	0	18073	506	18	4	1795	4	ZNF619	3	40529636	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	4750910	40529636	157492794	36	32643										
CCR1	1230	genome.wustl.edu	37	chr3	46244783	46244783	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cccctgtggagggagatgtgGagctgaccctctccagcctg	14	13	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:46244783G>C	ENST00000296140.3	-	2	1147	c.1022C>G	c.(1021-1023)tCc>tGc	p.S341C	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	341					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGAGATGTGGAGCTGACCCT	0.587																																																	0													63	57	59					3																	46244783		2203	4300	6503	SO:0001583	missense	1230				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.1022C>G	3.37:g.46244783G>C	ENSP00000296140:p.Ser341Cys		Q86VA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt	p.S341C	ENST00000296140.3	37	c.1022	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522003	0.64747	.	.	ENSG00000163823	ENST00000296140	T	0.68025	-0.3	4.76	3.89	0.44902	.	2.269100	0.01387	N	0.013135	D	0.88123	0.6352	H	0.94808	3.585	0.41614	D	0.988922	D	0.89917	1.0	D	0.72075	0.976	T	0.72944	-0.4138	10	0.72032	D	0.01	.	11.6592	0.51337	0.0827:0.0:0.9173:0.0	.	341	P32246	CCR1_HUMAN	C	341	ENSP00000296140:S341C	ENSP00000296140:S341C	S	-	2	0	CCR1	46219787	1.000000	0.71417	0.904000	0.35570	0.964000	0.63967	5.946000	0.70234	1.374000	0.46228	0.549000	0.68633	TCC	CCR1	-	NULL		0.587	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	G	NM_001295		46244783	-1	no_errors	ENST00000296140	ensembl	human	known	70_37	missense	SNP	0.988	C	C	46244783	G	C	46244783	3	2	173	1	0	0	0	0	1	0	0	0	2944	1174	41	1	49	1	CCR1	3	46244783	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	5715147	46244783	151777647	37	32644										
HESX1	8820	genome.wustl.edu	37	chr3	57232308	57232308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccttttcagttttgcacgccGattttgaaaccaaatctaaa	5	10	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:57232308G>A	ENST00000295934.3	-	4	511	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	HESX1_ENST00000473921.1_Missense_Mutation_p.R125W	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	159					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTTGCACGCCGATTTTGAAAC	0.289																																					Esophageal Squamous(84;267 1272 9034 48993 52677)												0													55	55	55					3																	57232308		2203	4299	6502	SO:0001583	missense	8820			AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"Homeoboxes / PRD class"	4877	protein-coding gene	gene with protein product		601802	"homeobox, ES cell expressed 1"			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.475C>T	3.37:g.57232308G>A	ENSP00000295934:p.Arg159Trp		Q52LC5|Q99667	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R159W	ENST00000295934.3	37	c.475	CCDS2881.1	3	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425920	0.62733	.	.	ENSG00000163666	ENST00000295934;ENST00000473921	D;D	0.97620	-4.46;-3.77	5.25	4.36	0.52297	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99396	0.9787	H	0.99986	5.255	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	D	0.97523	1.0074	10	0.87932	D	0	-10.0472	15.3792	0.74641	0.0:0.0:0.8593:0.1407	.	159	Q9UBX0	HESX1_HUMAN	W	159;125	ENSP00000295934:R159W;ENSP00000418918:R125W	ENSP00000295934:R159W	R	-	1	2	HESX1	57207348	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.066000	0.50002	1.315000	0.45114	0.484000	0.47621	CGG	HESX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.289	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HESX1	HGNC	protein_coding	OTTHUMT00000351430.2	G			57232308	-1	no_errors	ENST00000295934	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57232308	G	A	57232308	3	1	173	1	0	0	0	0	1	0	0	0	7092	1057	37	1	86	1	HESX1	3	57232308	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	10987525	57232308	140790122	38	32645										
ROBO2	6092	genome.wustl.edu	37	chr3	77611801	77611801	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tctcccttctgtgcacactaGatttctgatactggcactta	6	12	3	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:77611801G>C	ENST00000461745.1	+	10	2337		c.e10-1		ROBO2_ENST00000332191.8_Splice_Site|ROBO2_ENST00000487694.3_Splice_Site	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGCACACTAGATTTCTGATA	0.383																																																	0													101	96	98					3																	77611801		1888	4127	6015	SO:0001630	splice_region_variant	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1438-1G>C	3.37:g.77611801G>C			O43608|Q19AB4|Q19AB5	Splice_Site	SNP	-	e10-1	ENST00000461745.1	37	c.1438-1	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474047	0.43942	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ROBO2	77694491	1.000000	0.71417	0.954000	0.39281	0.053000	0.15095	9.781000	0.99029	2.885000	0.99019	0.655000	0.94253	.	ROBO2	-	-		0.383	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	G	XM_031246	Intron	77611801	1	no_errors	ENST00000461745	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	77611801	G	C	77611801	5	2	173	1	0	0	0	0	0	0	1	0	13544	956	33	1	1477	1	ROBO2	3	77611801	Splice_Site	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	20379493	77611801	120410629	39	32646										
VGLL3	389136	genome.wustl.edu	37	chr3	87018250	87018250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggaagttgggaaactattccGctggcttgagagagctgagc	15	7	0	3	rs200777627		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:87018250G>A	ENST00000398399.2	-	3	790	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	VGLL3_ENST00000383698.3_Missense_Mutation_p.R143W	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAACTATTCCGCTGGCTTGAG	0.478																																																	0													76	76	76					3																	87018250		1899	4127	6026	SO:0001583	missense	389136			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.427C>T	3.37:g.87018250G>A	ENSP00000381436:p.Arg143Trp			Missense_Mutation	SNP	pfam_Vg_Tdu,smart_TDU_repeat	p.R143W	ENST00000398399.2	37	c.427	CCDS43110.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.64|15.64	2.894568|2.894568	0.52121|0.52121	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.53423	.|0.62;0.64	5.88|5.88	-1.64|-1.64	0.08318|0.08318	.|.	.|0.211546	.|0.38837	.|N	.|0.001556	T|T	0.64768|0.64768	0.2628|0.2628	M|M	0.74881|0.74881	2.28|2.28	0.35191|0.35191	D|D	0.773388|0.773388	.|D	.|0.89917	.|1.0	.|D	.|0.63877	.|0.919	T|T	0.76383|0.76383	-0.2979|-0.2979	5|10	.|0.51188	.|T	.|0.08	-11.62|-11.62	19.4252|19.4252	0.94739|0.94739	0.0:0.0:0.1594:0.8406|0.0:0.0:0.1594:0.8406	.|.	.|143	.|A8MV65	.|VGLL3_HUMAN	V|W	76|143	.|ENSP00000381436:R143W;ENSP00000373199:R143W	.|ENSP00000373199:R143W	A|R	-|-	2|1	0|2	VGLL3|VGLL3	87100940|87100940	0.989000|0.989000	0.36119|0.36119	0.908000|0.908000	0.35775|0.35775	0.570000|0.570000	0.35934|0.35934	0.470000|0.470000	0.22084|0.22084	-0.169000|-0.169000	0.10834|0.10834	-1.089000|-1.089000	0.02181|0.02181	GCG|CGG	VGLL3	-	NULL		0.478	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VGLL3	HGNC	protein_coding	OTTHUMT00000352805.1	G	NM_016206		87018250	-1	no_errors	ENST00000398399	ensembl	human	known	70_37	missense	SNP	0.976	A	A	87018250	G	A	87018250	3	1	173	1	0	0	0	0	1	0	0	0	17191	1086	38	2	561	2	VGLL3	3	87018250	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	9406449	87018250	111004180	40	32647										
ALDH1L1	10840	genome.wustl.edu	37	chr3	125876203	125876203	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	caccatccctttgatgccttCagggaagaggaagcggttgt	12	10	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:125876203C>G	ENST00000393434.2	-	4	860	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E171Q|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E171Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E181Q|ALDH1L1_ENST00000452905.2_Intron|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000413612.1_5'Flank	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	171	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGATGCCTTCAGGGAAGAGG	0.652																																																	0													87	79	82					3																	125876203		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.511G>C	3.37:g.125876203C>G	ENSP00000377083:p.Glu171Gln		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.E171Q	ENST00000393434.2	37	c.511	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384084	0.61845	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	4.39	4.39	0.52855	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	L	0.61036	1.89	0.80722	D	1	P;P;P	0.50272	0.933;0.896;0.828	P;B;P	0.53102	0.718;0.415;0.718	D	0.86060	0.1531	10	0.62326	D	0.03	.	14.4889	0.67637	0.0:1.0:0.0:0.0	.	223;78;171	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	Q	181;171;171;171;171	ENSP00000273450:E181Q;ENSP00000420293:E171Q;ENSP00000377083:E171Q;ENSP00000377081:E171Q;ENSP00000418711:E171Q	ENSP00000273450:E181Q	E	-	1	0	ALDH1L1	127358893	1.000000	0.71417	0.931000	0.37212	0.066000	0.16364	5.687000	0.68219	2.277000	0.76020	0.467000	0.42956	GAA	ALDH1L1	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH		0.652	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	C	NM_012190		125876203	-1	no_errors	ENST00000393434	ensembl	human	known	70_37	missense	SNP	0.999	G	G	125876203	C	G	125876203	3	3	173	1	0	0	0	0	1	0	0	0	494	835	29	1	2277	1	ALDH1L1	3	125876203	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	38857953	125876203	72146227	41	32648										
ACAD11	84129	genome.wustl.edu	37	chr3	132294631	132294631	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctcacatgtgcatacaacttCttcttgaaagctatcctttg	5	11	3	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:132294631C>T	ENST00000264990.6	-	17	2957	c.1986G>A	c.(1984-1986)aaG>aaA	p.K662K	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Silent_p.K187K	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	662					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CATACAACTTCTTCTTGAAAG	0.438																																																	0													97	92	93					3																	132294631		2203	4300	6503	SO:0001819	synonymous_variant	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1986G>A	3.37:g.132294631C>T			Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.K662	ENST00000264990.6	37	c.1986	CCDS3074.1	3																																																																																			ACAD11	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.438	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	C	NM_032169		132294631	-1	no_errors	ENST00000264990	ensembl	human	known	70_37	silent	SNP	1.000	T	T	132294631	C	T	132294631	2	4	173	1	0	0	0	0	0	0	0	1	109	912	32	1		1	ACAD11	3	132294631	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	6418428	132294631	65727799	42	32649										
PRR23B	389151	genome.wustl.edu	37	chr3	138739178	138739178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gctgcgctcctgagcgttcgTcgacggagctcaggaggacc	15	13	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:138739178T>C	ENST00000329447.5	-	1	590	c.326A>G	c.(325-327)gAc>gGc	p.D109G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	109										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAGCGTTCGTCGACGGAGCT	0.637																																																	0													52	50	51					3																	138739178		2203	4300	6503	SO:0001583	missense	389151			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.326A>G	3.37:g.138739178T>C	ENSP00000328768:p.Asp109Gly		B2RNV9	Missense_Mutation	SNP	pfam_UPF0572	p.D109G	ENST00000329447.5	37	c.326	CCDS33868.1	3	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365214	0.41902	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.42	-4.83	0.03161	.	.	.	.	.	T	0.47002	0.1422	L	0.60455	1.87	0.09310	N	1	D	0.65815	0.995	D	0.66602	0.945	T	0.37888	-0.9686	8	0.36615	T	0.2	.	2.8052	0.05425	0.421:0.2816:0.0:0.2974	.	109	Q6ZRT6	PR23B_HUMAN	G	109	.	ENSP00000328768:D109G	D	-	2	0	PRR23B	140221868	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	0.089000	0.15002	-1.051000	0.03226	0.260000	0.18958	GAC	PRR23B	-	pfam_UPF0572		0.637	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23B	HGNC	protein_coding	OTTHUMT00000361501.1	T	NM_001013650		138739178	-1	no_errors	ENST00000329447	ensembl	human	known	70_37	missense	SNP	0.000	C	C	138739178	T	C	138739178	3	2	173	1	0	0	0	0	1	0	0	0	12622	1667	58	5	475	5	PRR23B	3	138739178	Missense_Mutation	SNP	T	TCGA-LP-A7HU-01A-11D-A33O-09	6444547	138739178	59283252	43	32650										
ZIC1	7545	genome.wustl.edu	37	chr3	147128760	147128760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aagcccttcaaagccaaataCaaactggttaaccacatccg	5	13	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:147128760C>T	ENST00000282928.4	+	1	1590	c.861C>T	c.(859-861)taC>taT	p.Y287Y		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	287					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AAGCCAAATACAAACTGGTTA	0.592																																																	0													114	115	115					3																	147128760		2203	4300	6503	SO:0001819	synonymous_variant	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.861C>T	3.37:g.147128760C>T			Q2M3N1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y287	ENST00000282928.4	37	c.861	CCDS3136.1	3																																																																																			ZIC1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	C	NM_003412		147128760	1	no_errors	ENST00000282928	ensembl	human	known	70_37	silent	SNP	1.000	T	T	147128760	C	T	147128760	2	4	173	1	0	0	0	0	0	0	0	1	17708	489	17	4		4	ZIC1	3	147128760	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	8389582	147128760	50893670	44	32651										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A													0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctacacgagatcctctctctGaaatcactgagcaggagaaa					rs121913273		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	173	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	31807322	178936082	19086348	45	32652	213	2								
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A													0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	atcctctctctgaaatcactGagcaggagaaagattttcta					rs104886003		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	173	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	9	178936091	19086339	46	32653	213	2								
ADRA2C	152	genome.wustl.edu	37	chr4	3769489	3769489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gcttcacctttgtgctggctGtggtcatgggcgtgttcgtg	15	9	2	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:3769489G>T	ENST00000330055.5	+	1	1365	c.1156G>T	c.(1156-1158)Gtg>Ttg	p.V386L	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	386					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGTGCTGGCTGTGGTCATGGG	0.682																																					Esophageal Squamous(12;454 628 4517 14479)												0													44	49	47					4																	3769489		2198	4300	6498	SO:0001583	missense	152			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1156G>T	4.37:g.3769489G>T	ENSP00000386069:p.Val386Leu		P35369|Q9HB49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2C,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.V386L	ENST00000330055.5	37	c.1156	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373277	0.82573	.	.	ENSG00000184160	ENST00000330055	T	0.39406	1.08	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61311	0.2337	M	0.67569	2.06	0.58432	D	0.999995	D	0.76494	0.999	D	0.81914	0.995	T	0.66056	-0.6018	9	0.59425	D	0.04	.	14.6034	0.68460	0.0:0.0:1.0:0.0	.	386	P18825	ADA2C_HUMAN	L	386	ENSP00000386069:V386L	ENSP00000386069:V386L	V	+	1	0	ADRA2C	3739287	1.000000	0.71417	0.939000	0.37840	0.980000	0.70556	8.638000	0.91019	1.878000	0.54408	0.603000	0.83216	GTG	ADRA2C	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.682	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	G	NM_000683		3769489	1	no_errors	ENST00000330055	ensembl	human	known	70_37	missense	SNP	0.999	T	T	3769489	G	T	3769489	3	4	173	1	0	0	0	0	1	0	0	0	339	1377	48	4	1158	4	ADRA2C	4	3769489	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		3769489	187384787	47	32654										
YIPF7	285525	genome.wustl.edu	37	chr4	44631497	44631497	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttcattcataatgctgccatCtactggcttcattgggttta	7	9	4	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:44631497C>T	ENST00000332990.5	-	4	437	c.421G>A	c.(421-423)Gat>Aat	p.D141N	YIPF7_ENST00000415895.4_Missense_Mutation_p.D117N	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	141						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATGCTGCCATCTACTGGCTTC	0.403																																																	0													79	85	83					4																	44631497		1883	4109	5992	SO:0001583	missense	285525			AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"Yip1 domain family"	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.421G>A	4.37:g.44631497C>T	ENSP00000332772:p.Asp141Asn		Q3SY21|Q3SY22	Missense_Mutation	SNP	pfam_Yip1	p.D141N	ENST00000332990.5	37	c.421	CCDS54766.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.555323|5.555323	0.96514|0.96514	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.34667|.	1.35|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Yip1 domain (1);|.	0.107759|.	0.64402|.	D|.	0.000009|.	T|T	0.71745|0.71745	0.3376|0.3376	L|L	0.56396|0.56396	1.775|1.775	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.50272|.	0.933|.	P|.	0.58391|.	0.838|.	T|T	0.68887|0.68887	-0.5290|-0.5290	10|5	0.38643|.	T|.	0.18|.	-5.3167|-5.3167	17.8311|17.8311	0.88683|0.88683	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	141|.	Q8N8F6|.	YIPF7_HUMAN|.	N|K	141|117	ENSP00000332772:D141N|.	ENSP00000332772:D141N|.	D|R	-|-	1|2	0|0	YIPF7|YIPF7	44326254|44326254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.601000|7.601000	0.82783|0.82783	2.678000|2.678000	0.91216|0.91216	0.484000|0.484000	0.47621|0.47621	GAT|AGA	YIPF7	-	pfam_Yip1		0.403	YIPF7-201	KNOWN	basic|CCDS	protein_coding	YIPF7	HGNC	protein_coding		C	NM_182592		44631497	-1	no_errors	ENST00000332990	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44631497	C	T	44631497	3	4	173	1	0	0	0	0	1	0	0	0	17514	913	32	1	433	1	YIPF7	4	44631497	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	40862008	44631497	146522779	48	32655										
NKX6-1	4825	genome.wustl.edu	37	chr4	85414693	85414693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccacttggtccggcggttctGgaaccagacctgagggcgga	15	12	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:85414693G>T	ENST00000295886.4	-	3	1074	c.853C>A	c.(853-855)Cag>Aag	p.Q285K	NKX6-1_ENST00000515820.2_Missense_Mutation_p.Q11K	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	285					cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CGGCGGTTCTGGAACCAGACC	0.617																																																	0													58	60	59					4																	85414693		2203	4300	6503	SO:0001583	missense	4825			AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"Homeoboxes / ANTP class : NKL subclass"	7839	protein-coding gene	gene with protein product		602563	"NK homeobox (Drosophila), family 6, A", "NK6 transcription factor related, locus 1 (Drosophila)"	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.853C>A	4.37:g.85414693G>T	ENSP00000295886:p.Gln285Lys			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.Q285K	ENST00000295886.4	37	c.853	CCDS3607.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977204	0.74360	.	.	ENSG00000163623	ENST00000295886;ENST00000515820	D	0.97575	-4.44	4.4	4.4	0.53042	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.065791	0.64402	D	0.000007	D	0.97498	0.9181	M	0.84156	2.68	0.80722	D	1	P	0.46784	0.884	P	0.48704	0.587	D	0.98660	1.0683	10	0.87932	D	0	-16.3934	16.7939	0.85596	0.0:0.0:1.0:0.0	.	285	P78426	NKX61_HUMAN	K	285;11	ENSP00000295886:Q285K	ENSP00000295886:Q285K	Q	-	1	0	NKX6-1	85633717	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.435000	0.73412	2.276000	0.75962	0.467000	0.42956	CAG	NKX6-1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa		0.617	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX6-1	HGNC	protein_coding	OTTHUMT00000252814.2	G	NM_006168		85414693	-1	no_errors	ENST00000295886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	85414693	G	T	85414693	3	4	173	1	0	0	0	0	1	0	0	0	10481	1357	47	4	254	4	NKX6-1	4	85414693	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	40783196	85414693	105739583	49	32656										
DCTD	1635	genome.wustl.edu	37	chr4	183814220	183814220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccatattaaacaggagcctcGcagcagttgcctcgtcacta	8	13	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr4:183814220G>A	ENST00000438320.2	-	5	712	c.422C>T	c.(421-423)gCg>gTg	p.A141V	DCTD_ENST00000357067.3_Missense_Mutation_p.A152V|DCTD_ENST00000510370.1_Missense_Mutation_p.A141V	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	141					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	CAGGAGCCTCGCAGCAGTTGC	0.498																																																	0													71	66	67					4																	183814220		2203	4300	6503	SO:0001583	missense	1635			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.422C>T	4.37:g.183814220G>A	ENSP00000398194:p.Ala141Val		B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase	p.A152V	ENST00000438320.2	37	c.455	CCDS3831.1	4	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075188	0.76415	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.39	5.39	0.77823	Cytidine deaminase-like (1);	0.050553	0.85682	D	0.000000	T	0.60599	0.2281	M	0.83384	2.64	0.80722	D	1	P;D;D;P	0.71674	0.811;0.994;0.998;0.902	B;B;P;B	0.50970	0.058;0.434;0.655;0.094	T	0.68405	-0.5417	10	0.87932	D	0	-11.1545	19.5067	0.95121	0.0:0.0:1.0:0.0	.	141;82;152;141	D6RBJ9;B4DDC2;P32321-2;P32321	.;.;.;DCTD_HUMAN	V	152;141;141;141	ENSP00000349576:A152V;ENSP00000398194:A141V;ENSP00000424017:A141V;ENSP00000422662:A141V	ENSP00000349576:A152V	A	-	2	0	DCTD	184051214	1.000000	0.71417	0.243000	0.24186	0.006000	0.05464	7.864000	0.87037	2.669000	0.90835	0.655000	0.94253	GCG	DCTD	-	superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase		0.498	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTD	HGNC	protein_coding	OTTHUMT00000361743.2	G			183814220	-1	no_errors	ENST00000357067	ensembl	human	known	70_37	missense	SNP	0.931	A	A	183814220	G	A	183814220	3	1	173	1	0	0	0	0	1	0	0	0	4310	1087	38	2	122	2	DCTD	4	183814220	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	98399527	183814220	7340056	50	32657										
EGFLAM	133584	genome.wustl.edu	37	chr5	38370504	38370504	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	actaccagtttgccgtgaggGcaatgaattcccatggcccc	10	13	0	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:38370504G>T	ENST00000354891.3	+	6	998	c.652G>T	c.(652-654)Gca>Tca	p.A218S	EGFLAM_ENST00000322350.5_Missense_Mutation_p.A218S	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	218	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGCCGTGAGGGCAATGAATTC	0.567																																					Colon(62;485 1295 3347 17454)												0													67	63	64					5																	38370504		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.652G>T	5.37:g.38370504G>T	ENSP00000346964:p.Ala218Ser		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.A218S	ENST00000354891.3	37	c.652	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.392119	0.95988	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.75704	-0.96;-0.96	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89790	0.3967	10	0.87932	D	0	-2.1877	19.688	0.95987	0.0:0.0:1.0:0.0	.	218;218	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	S	218	ENSP00000346964:A218S;ENSP00000313084:A218S	ENSP00000313084:A218S	A	+	1	0	EGFLAM	38406261	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	8.676000	0.91199	2.756000	0.94617	0.561000	0.74099	GCA	EGFLAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	G	NM_152403		38370504	1	no_errors	ENST00000354891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38370504	G	T	38370504	3	4	173	1	0	0	0	0	1	0	0	0	4976	1203	42	4	674	4	EGFLAM	5	38370504	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		38370504	142544756	51	32658										
C7	730	genome.wustl.edu	37	chr5	40981528	40981528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tgtgtctgccgagaagcatcGgagtgcgaggaagaagggtt	17	6	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:40981528G>A	ENST00000313164.9	+	18	2744	c.2385G>A	c.(2383-2385)tcG>tcA	p.S795S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	795	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.S795S(1)					Ovarian(839;0.0112)				GAGAAGCATCGGAGTGCGAGG	0.522																																																	1	Substitution - coding silent(1)	large_intestine(1)											62	63	63					5																	40981528		2104	4213	6317	SO:0001819	synonymous_variant	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2385G>A	5.37:g.40981528G>A			Q6P3T5|Q92489	Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S795	ENST00000313164.9	37	c.2385	CCDS47201.1	5																																																																																			C7	-	smart_FacI_MAC		0.522	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	G			40981528	1	no_errors	ENST00000313164	ensembl	human	known	70_37	silent	SNP	0.000	A	A	40981528	G	A	40981528	2	1	173	1	0	0	0	0	0	0	0	1	2380	1103	39	2		2	C7	5	40981528	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	2611024	40981528	139933732	52	32659										
CEP120	153241	genome.wustl.edu	37	chr5	122754060	122754060	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aaatgataatcacctgtgctGatgaagcgctttcctgtcaa	8	9	2	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:122754060G>A	ENST00000306467.5	-	2	503	c.199C>T	c.(199-201)Cag>Tag	p.Q67*	CEP120_ENST00000395431.2_Nonsense_Mutation_p.Q67*|CEP120_ENST00000306481.6_Nonsense_Mutation_p.Q41*|CEP120_ENST00000328236.5_Nonsense_Mutation_p.Q67*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	67					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CACCTGTGCTGATGAAGCGCT	0.383																																																	0													115	105	108					5																	122754060		1913	4142	6055	SO:0001587	stop_gained	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.199C>T	5.37:g.122754060G>A	ENSP00000303058:p.Gln67*		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Nonsense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.Q67*	ENST00000306467.5	37	c.199	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	30	5.057405	0.93846	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.5247	19.3603	0.94434	0.0:0.0:1.0:0.0	.	.	.	.	X	67;67;41;41;67	.	ENSP00000303058:Q67X	Q	-	1	0	CEP120	122781959	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.105000	0.94246	2.639000	0.89480	0.650000	0.86243	CAG	CEP120	-	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB		0.383	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	G	NM_153223		122754060	-1	no_errors	ENST00000306467	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	122754060	G	A	122754060	4	1	173	1	0	0	0	0	0	1	0	0	3251	1299	45	1	2837	1	CEP120	5	122754060	Nonsense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	81772532	122754060	58161200	53	32660										
PCDHB4	56131	genome.wustl.edu	37	chr5	140502607	140502607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tggtggatgtgaatgacaatCccccagaacttatcatatct	8	9	2	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:140502607C>T	ENST00000194152.1	+	1	1027	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	343	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P343T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGACAATCCCCCAGAACT	0.443																																																	1	Substitution - Missense(1)	lung(1)											151	162	158					5																	140502607		2203	4300	6503	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1027C>T	5.37:g.140502607C>T	ENSP00000194152:p.Pro343Ser		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P343S	ENST00000194152.1	37	c.1027	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	3.121	-0.180447	0.06380	.	.	ENSG00000081818	ENST00000194152	T	0.39056	1.1	4.41	1.42	0.22433	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.30947	0.0781	L	0.33753	1.03	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24764	-1.0151	9	0.46703	T	0.11	.	9.6638	0.39972	0.0781:0.2771:0.6448:0.0	.	343	Q9Y5E5	PCDB4_HUMAN	S	343	ENSP00000194152:P343S	ENSP00000194152:P343S	P	+	1	0	PCDHB4	140482791	0.000000	0.05858	0.717000	0.30585	0.278000	0.26855	0.126000	0.15769	0.603000	0.29913	-0.171000	0.13296	CCC	PCDHB4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.443	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	C	NM_018938		140502607	1	no_errors	ENST00000194152	ensembl	human	known	70_37	missense	SNP	0.088	T	T	140502607	C	T	140502607	3	4	173	1	0	0	0	0	1	0	0	0	11568	855	30	1	1029	1	PCDHB4	5	140502607	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	17748547	140502607	40412653	54	32661										
PCDHB14	56122	genome.wustl.edu	37	chr5	140603505	140603505	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggaaatacttattaaaatatCagaaggtaccactgttggag	9	5	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:140603505C>G	ENST00000239449.4	+	1	428	c.428C>G	c.(427-429)tCa>tGa	p.S143*	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	143	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTAAAATATCAGAAGGTACC	0.388																																					Ovarian(141;50 1831 27899 33809 37648)												0													65	70	69					5																	140603505		2201	4300	6501	SO:0001587	stop_gained	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.428C>G	5.37:g.140603505C>G	ENSP00000239449:p.Ser143*		B4DPE2|Q4FZA4|Q4KN11	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S143*	ENST00000239449.4	37	c.428	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	17.90	3.502992	0.64298	.	.	ENSG00000120327	ENST00000239449	.	.	.	4.92	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.26261	N	0.978577	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	8.5447	0.33415	0.0:0.7614:0.1554:0.0833	.	.	.	.	X	143	.	ENSP00000239449:S143X	S	+	2	0	PCDHB14	140583689	0.000000	0.05858	1.000000	0.80357	0.932000	0.56968	-0.467000	0.06664	2.434000	0.82447	0.650000	0.86243	TCA	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.388	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	C	NM_018934		140603505	1	no_errors	ENST00000239449	ensembl	human	known	70_37	nonsense	SNP	0.311	G	G	140603505	C	G	140603505	4	3	173	1	0	0	0	0	0	1	0	0	11563	838	29	1	430	1	PCDHB14	5	140603505	Nonsense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	100898	140603505	40311755	55	32662										
PCDHB14	56122	genome.wustl.edu	37	chr5	140604233	140604233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggaggatgatttgctctattCaagataacctcccttttttc	7	9	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:140604233C>G	ENST00000239449.4	+	1	1156	c.1156C>G	c.(1156-1158)Caa>Gaa	p.Q386E	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q233E	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCTATTCAAGATAACCT	0.423																																					Ovarian(141;50 1831 27899 33809 37648)												0													110	115	113					5																	140604233		2203	4300	6503	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1156C>G	5.37:g.140604233C>G	ENSP00000239449:p.Gln386Glu		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q386E	ENST00000239449.4	37	c.1156	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	2.296	-0.361210	0.05103	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.51817	0.69;0.69	4.54	3.66	0.41972	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37433	0.1003	L	0.35487	1.065	0.09310	N	1	B	0.21147	0.052	B	0.20384	0.029	T	0.18085	-1.0348	9	0.22109	T	0.4	.	13.6752	0.62449	0.0:0.5208:0.4792:0.0	.	386	Q9Y5E9	PCDBE_HUMAN	E	233;386	ENSP00000444518:Q233E;ENSP00000239449:Q386E	ENSP00000239449:Q386E	Q	+	1	0	PCDHB14	140584417	0.000000	0.05858	0.085000	0.20634	0.667000	0.39255	-0.242000	0.08928	1.021000	0.39600	0.586000	0.80456	CAA	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.423	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	C	NM_018934		140604233	1	no_errors	ENST00000239449	ensembl	human	known	70_37	missense	SNP	0.041	G	G	140604233	C	G	140604233	3	3	173	1	0	0	0	0	1	0	0	0	11563	827	29	1	1158	1	PCDHB14	5	140604233	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	728	140604233	40311027	56	32663										
TRIM41	90933	genome.wustl.edu	37	chr5	180661467	180661467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gcggggatgccagctcctcgCgccatcaccatcgccgccgc	12	19	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr5:180661467C>T	ENST00000315073.5	+	6	2295	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	529	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCTCCTCGCGCCATCACCA	0.692																																																	0													19	22	21					5																	180661467		2200	4295	6495	SO:0001583	missense	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1585C>T	5.37:g.180661467C>T	ENSP00000320869:p.Arg529Cys		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R529C	ENST00000315073.5	37	c.1585	CCDS4466.1	5	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635573	0.29068	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	T	0.55930	0.49	5.32	4.4	0.53042	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.52532	D	0.000063	T	0.36331	0.0963	N	0.01576	-0.805	0.36818	D	0.886229	D	0.69078	0.997	P	0.54815	0.761	T	0.55179	-0.8181	10	0.59425	D	0.04	.	11.1754	0.48596	0.0:0.8142:0.1858:0.0	.	529	Q8WV44	TRI41_HUMAN	C	529;214	ENSP00000320869:R529C	ENSP00000320869:R529C	R	+	1	0	TRIM41	180594073	0.956000	0.32656	0.952000	0.39060	0.201000	0.24016	1.938000	0.40203	2.512000	0.84698	0.449000	0.29647	CGC	TRIM41	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.692	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	C	NM_201627		180661467	1	no_errors	ENST00000315073	ensembl	human	known	70_37	missense	SNP	0.799	T	T	180661467	C	T	180661467	3	4	173	1	0	0	0	0	1	0	0	0	16547	768	27	2	1607	2	TRIM41	5	180661467	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	40057234	180661467	253793	57	32664										
HIVEP1	3096	genome.wustl.edu	37	chr6	12120788	12120788	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cttcacaggaattggttgctGaatcacagtcttcttgtacc	8	10	4	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:12120788G>C	ENST00000379388.2	+	4	1092	c.760G>C	c.(760-762)Gaa>Caa	p.E254Q		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	254					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTGGTTGCTGAATCACAGTC	0.428																																																	0													156	139	145					6																	12120788		1916	4127	6043	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.760G>C	6.37:g.12120788G>C	ENSP00000368698:p.Glu254Gln		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E254Q	ENST00000379388.2	37	c.760	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	6.427	0.446931	0.12223	.	.	ENSG00000095951	ENST00000379388	T	0.09445	2.98	5.69	2.91	0.33838	.	0.000000	0.37053	N	0.002262	T	0.02610	0.0079	L	0.36672	1.1	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.44452	-0.9327	9	.	.	.	-2.9959	10.5901	0.45304	0.0683:0.3977:0.534:0.0	.	254	P15822	ZEP1_HUMAN	Q	254	ENSP00000368698:E254Q	.	E	+	1	0	HIVEP1	12228774	0.856000	0.29760	0.000000	0.03702	0.469000	0.32828	3.484000	0.53201	0.324000	0.23333	0.655000	0.94253	GAA	HIVEP1	-	NULL		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12120788	1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	0.000	C	C	12120788	G	C	12120788	3	2	173	1	0	0	0	0	1	0	0	0	7206	1291	45	1	770	1	HIVEP1	6	12120788	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		12120788	158994279	58	32665										
PRL	5617	genome.wustl.edu	37	chr6	22294638	22294638	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gccagaagcatggtacttacGaattcgctgaacatttctga	9	9	1	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:22294638G>A	ENST00000306482.1	-	2	722	c.204C>T	c.(202-204)ttC>ttT	p.F68F	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	68					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)	p.F68F(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGTACTTACGAATTCGCTGA	0.527																																																	1	Substitution - coding silent(1)	large_intestine(1)											95	88	90					6																	22294638		2203	4300	6503	SO:0001630	splice_region_variant	5617			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.204+1C>T	6.37:g.22294638G>A			Q15199|Q92996	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.F68	ENST00000306482.1	37	c.204	CCDS4548.1	6																																																																																			PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core		0.527	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	G	NM_000948	Silent	22294638	-1	no_errors	ENST00000306482	ensembl	human	known	70_37	silent	SNP	0.997	A	A	22294638	G	A	22294638	5	1	173	1	0	0	0	0	0	0	1	0	12555	1072	37	1	495	1	PRL	6	22294638	Splice_Site	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	10173850	22294638	148820429	59	32666										
OR2H2	7932	genome.wustl.edu	37	chr6	29556211	29556211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agacaccatccaccctgcacCtgcccttctgccccgatcgg	7	20	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:29556211C>T	ENST00000383640.2	+	1	529	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	164					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CACCCTGCACCTGCCCTTCTG	0.582																																																	0													126	129	128					6																	29556211		1511	2708	4219	SO:0001819	synonymous_variant	7932				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.490C>T	6.37:g.29556211C>T			Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L164	ENST00000383640.2	37	c.490	CCDS34365.1	6																																																																																			OR2H2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.582	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2H2	HGNC	protein_coding	OTTHUMT00000076057.2	C			29556211	1	no_errors	ENST00000383640	ensembl	human	known	70_37	silent	SNP	0.954	T	T	29556211	C	T	29556211	2	4	173	1	0	0	0	0	0	0	0	1	11026	680	24	4		4	OR2H2	6	29556211	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	7261573	29556211	141558856	60	32667										
BTNL2	56244	genome.wustl.edu	37	chr6	32364126	32364126	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	atatcttctcccactctgacGaggatgggctgggaaggtcc	12	11	3	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:32364126G>A	ENST00000374993.1	-	5	767	c.768C>T	c.(766-768)ctC>ctT	p.L256L	BTNL2_ENST00000414363.1_Silent_p.L46L|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000540315.1_Silent_p.L46L|BTNL2_ENST00000454136.3_Silent_p.L256L|BTNL2_ENST00000429232.2_Silent_p.L163L|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Silent_p.L162L	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	256	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCACTCTGACGAGGATGGGCT	0.468																																																	0													65	62	63					6																	32364126		1511	2708	4219	SO:0001819	synonymous_variant	56244			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.768C>T	6.37:g.32364126G>A			A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.L256	ENST00000374993.1	37	c.768		6																																																																																			BTNL2	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.468	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	BTNL2	HGNC	protein_coding		G	NM_019602		32364126	-1	no_errors	ENST00000468270	ensembl	human	known	70_37	silent	SNP	0.538	A	A	32364126	G	A	32364126	2	1	173	1	0	0	0	0	0	0	0	1	1568	1045	37	1		1	BTNL2	6	32364126	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	2807915	32364126	138750941	61	32668										
UBR2	23304	genome.wustl.edu	37	chr6	42657395	42657395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttgatgactatggggagaccGaccagggactcaggtaagaa	14	7	1	4	rs545959613		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:42657395G>A	ENST00000372899.1	+	46	5371	c.5113G>A	c.(5113-5115)Gac>Aac	p.D1705N	UBR2_ENST00000372901.1_Missense_Mutation_p.D1705N|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1705					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGGGAGACCGACCAGGGACT	0.522													G|||	1	0.000199681	0	0	5008	,	,		20122	0		0.001	False		,,,				2504	0																0													233	238	236					6																	42657395		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5113G>A	6.37:g.42657395G>A	ENSP00000361990:p.Asp1705Asn		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D1705N	ENST00000372899.1	37	c.5113	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.608098	0.96626	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.67523	-0.27;-0.27	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.999;1.0	T	0.82587	-0.0383	10	0.54805	T	0.06	-15.6061	19.3331	0.94299	0.0:0.0:1.0:0.0	.	293;1705;1705	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	N	1705	ENSP00000361990:D1705N;ENSP00000361992:D1705N	ENSP00000361990:D1705N	D	+	1	0	UBR2	42765373	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	9.869000	0.99810	2.563000	0.86464	0.557000	0.71058	GAC	UBR2	-	NULL		0.522	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42657395	1	no_errors	ENST00000372899	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42657395	G	A	42657395	3	1	173	1	0	0	0	0	1	0	0	0	16933	1058	37	1	5441	1	UBR2	6	42657395	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	10293269	42657395	128457672	62	32669										
CUL9	23113	genome.wustl.edu	37	chr6	43163825	43163825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aggcactgaagatgctggccGtcgccagctcctcggagatc	13	13	0	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:43163825G>A	ENST00000252050.4	+	10	2491	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I	CUL9_ENST00000354495.3_Missense_Mutation_p.V693I|CUL9_ENST00000372647.2_Missense_Mutation_p.V803I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	803					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GATGCTGGCCGTCGCCAGCTC	0.532																																																	0													85	88	87					6																	43163825		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2407G>A	6.37:g.43163825G>A	ENSP00000252050:p.Val803Ile		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.V803I	ENST00000252050.4	37	c.2407	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.529458	0.00951	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.37411	1.2;1.2;1.2	5.19	1.36	0.22044	Armadillo-like helical (1);Armadillo-type fold (1);	0.902571	0.09686	N	0.769055	T	0.03651	0.0104	N	0.03608	-0.345	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44907	-0.9297	10	0.02654	T	1	-2.3734	8.9636	0.35863	0.5445:0.0:0.4555:0.0	.	803;803	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	I	803;693;803	ENSP00000252050:V803I;ENSP00000346490:V693I;ENSP00000361730:V803I	ENSP00000252050:V803I	V	+	1	0	CUL9	43271803	0.983000	0.35010	0.973000	0.42090	0.150000	0.21749	1.386000	0.34419	0.004000	0.14682	-1.264000	0.01445	GTC	CUL9	-	superfamily_ARM-type_fold		0.532	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	G	NM_015089		43163825	1	no_errors	ENST00000252050	ensembl	human	known	70_37	missense	SNP	0.999	A	A	43163825	G	A	43163825	3	1	173	1	0	0	0	0	1	0	0	0	4066	1145	40	2	2441	2	CUL9	6	43163825	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	506430	43163825	127951242	63	32670										
AKAP12	9590	genome.wustl.edu	37	chr6	151673302	151673302	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggaaactgtatccattctgtCaaagactgaggggactcaag	11	8	3	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr6:151673302C>T	ENST00000253332.1	+	3	3965	c.3776C>T	c.(3775-3777)tCa>tTa	p.S1259L	AKAP12_ENST00000359755.5_Missense_Mutation_p.S1154L|AKAP12_ENST00000354675.6_Missense_Mutation_p.S1161L|AKAP12_ENST00000402676.2_Missense_Mutation_p.S1259L			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1259					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCCATTCTGTCAAAGACTGAG	0.423																																					Melanoma(141;1616 1805 10049 24534 51979)												0													72	68	69					6																	151673302		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3776C>T	6.37:g.151673302C>T	ENSP00000253332:p.Ser1259Leu		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.S1259L	ENST00000253332.1	37	c.3776	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	9.675	1.147669	0.21288	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10288	2.89;2.89;2.9;2.9	5.0	3.23	0.37069	.	0.563676	0.13477	N	0.385023	T	0.01976	0.0062	N	0.19112	0.55	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.14578	0.011;0.011;0.005	T	0.46992	-0.9151	10	0.28530	T	0.3	.	6.7753	0.23617	0.0:0.6883:0.1462:0.1656	.	1154;1161;1259	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	L	1259;1259;1161;1154	ENSP00000384537:S1259L;ENSP00000253332:S1259L;ENSP00000346702:S1161L;ENSP00000352794:S1154L	ENSP00000253332:S1259L	S	+	2	0	AKAP12	151714995	0.000000	0.05858	0.023000	0.16930	0.006000	0.05464	0.568000	0.23623	0.531000	0.28639	-0.262000	0.10625	TCA	AKAP12	-	NULL		0.423	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	C			151673302	1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.000	T	T	151673302	C	T	151673302	3	4	173	1	0	0	0	0	1	0	0	0	448	838	29	1	3815	1	AKAP12	6	151673302	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	108509477	151673302	19441765	64	32671										
MICALL2	79778	genome.wustl.edu	37	chr7	1484696	1484696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agctattggtcacacgagggCggactttcccctccgtggga	13	12	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr7:1484696C>T	ENST00000297508.7	-	6	1185	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MICALL2_ENST00000405088.4_Missense_Mutation_p.R125H	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	337	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CACACGAGGGCGGACTTTCCC	0.716																																																	0													9	9	9					7																	1484696		2029	4088	6117	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1010G>A	7.37:g.1484696C>T	ENSP00000297508:p.Arg337His		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.R337H	ENST00000297508.7	37	c.1010	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259200	0.23051	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.71817	2.53;-0.6	3.53	-5.87	0.02297	.	.	.	.	.	T	0.40067	0.1102	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14727	-1.0462	9	0.44086	T	0.13	.	1.2551	0.01990	0.1357:0.1979:0.2685:0.3979	.	337	Q8IY33	MILK2_HUMAN	H	125;337	ENSP00000385928:R125H;ENSP00000297508:R337H	ENSP00000297508:R337H	R	-	2	0	MICALL2	1451222	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.011000	0.12721	-1.139000	0.02881	-1.090000	0.02178	CGC	MICALL2	-	NULL		0.716	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	C	NM_182924		1484696	-1	no_errors	ENST00000297508	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1484696	C	T	1484696	3	4	173	1	0	0	0	0	1	0	0	0	9597	768	27	2	1752	2	MICALL2	7	1484696	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		1484696	157653967	65	32672										
ICA1	3382	genome.wustl.edu	37	chr7	8153554	8153554	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cctcccgaagggtacagattCatgcattgagcaattcgtgt	10	10	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr7:8153554C>T	ENST00000402384.3	-	14	1717	c.1451G>A	c.(1450-1452)tGa>tAa	p.*484*	ICA1_ENST00000422063.2_Silent_p.*513*|ICA1_ENST00000265577.7_Silent_p.*483*|ICA1_ENST00000401396.1_Silent_p.*472*|ICA1_ENST00000406470.2_Silent_p.*484*|ICA1_ENST00000396675.3_Silent_p.*484*|AC006042.6_ENST00000449931.1_RNA			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	0					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GGTACAGATTCATGCATTGAG	0.502																																																	0													149	139	142					7																	8153554		2203	4300	6503	SO:0001819	synonymous_variant	3382				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1451G>A	7.37:g.8153554C>T			A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.*513	ENST00000402384.3	37	c.1538	CCDS34602.1	7																																																																																			ICA1	-	NULL		0.502	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	C	NM_004968		8153554	-1	no_errors	ENST00000422063	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8153554	C	T	8153554	2	4	173	1	0	0	0	0	0	0	0	1	7497	837	29	1		1	ICA1	7	8153554	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	6668858	8153554	150985109	66	32673										
FAM188B	84182	genome.wustl.edu	37	chr7	30898883	30898883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cccctcccagtttgaagtggGcccctatggctgcatcctgc	10	16	0	1	rs561526056		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr7:30898883G>A	ENST00000265299.6	+	13	1765	c.1688G>A	c.(1687-1689)gGc>gAc	p.G563D	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.G26D	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	563										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTGAAGTGGGCCCCTATGGC	0.592													G|||	0	0	0	0	5008	,	,		20712	0		0	False		,,,				2504	0																0													107	117	114					7																	30898883		2039	4196	6235	SO:0001583	missense	84182			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1688G>A	7.37:g.30898883G>A	ENSP00000265299:p.Gly563Asp		Q71AZ7|Q9H6D2	Missense_Mutation	SNP	NULL	p.G563D	ENST00000265299.6	37	c.1688	CCDS43565.1	7	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390768	0.62066	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.31769	1.48;1.48	5.26	5.26	0.73747	.	0.051282	0.85682	D	0.000000	T	0.46560	0.1399	L	0.41824	1.3	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.982;0.989	T	0.43376	-0.9395	10	0.87932	D	0	-21.7232	14.3483	0.66682	0.0:0.0:1.0:0.0	.	83;563	B8ZZX1;Q4G0A6	.;F188B_HUMAN	D	563;83;26	ENSP00000265299:G563D;ENSP00000421315:G26D	ENSP00000265299:G563D	G	+	2	0	RP5-877J2.1;FAM188B	30865408	1.000000	0.71417	0.798000	0.32154	0.713000	0.41058	6.005000	0.70716	2.458000	0.83093	0.561000	0.74099	GGC	FAM188B	-	NULL		0.592	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	G	NM_032222		30898883	1	no_errors	ENST00000265299	ensembl	human	known	70_37	missense	SNP	0.949	A	A	30898883	G	A	30898883	3	1	173	1	0	0	0	0	1	0	0	0	5530	1203	42	4	1738	4	FAM188B	7	30898883	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	22745329	30898883	128239780	67	32674										
CCDC146	57639	genome.wustl.edu	37	chr7	76797094	76797094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	caattaacattcaagatgagCggtttgttgatttatctgaa	8	5	2	4	rs374413765		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr7:76797094C>T	ENST00000285871.4	+	2	236	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	37										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCAAGATGAGCGGTTTGTTGA	0.363																																																	0								C	TRP/ARG	0,4406		0,0,2203	85	92	90		109	4.1	1	7		90	2,8592	1.2+/-3.3	0,2,4295	no	missense	CCDC146	NM_020879.2	101	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	37/956	76797094	2,12998	2203	4297	6500	SO:0001583	missense	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.109C>T	7.37:g.76797094C>T	ENSP00000285871:p.Arg37Trp		A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.R37W	ENST00000285871.4	37	c.109	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061061	0.55432	0.0	2.33E-4	ENSG00000135205	ENST00000415750;ENST00000285871	D;D	0.85484	-1.99;-1.99	4.07	4.07	0.47477	.	0.366855	0.22620	N	0.057716	D	0.88149	0.6359	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.93;0.968	D	0.88612	0.3157	10	0.72032	D	0.01	-0.137	11.9983	0.53216	0.0:1.0:0.0:0.0	.	37;37	Q8IYE0;C9JRR4	CC146_HUMAN;.	W	37	ENSP00000388649:R37W;ENSP00000285871:R37W	ENSP00000285871:R37W	R	+	1	2	AC007000.1	76635030	0.998000	0.40836	0.991000	0.47740	0.676000	0.39594	0.874000	0.28065	2.259000	0.74868	0.454000	0.30748	CGG	CCDC146	-	NULL		0.363	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	C	NM_020879		76797094	1	no_errors	ENST00000285871	ensembl	human	known	70_37	missense	SNP	0.984	T	T	76797094	C	T	76797094	3	4	173	1	0	0	0	0	1	0	0	0	2785	759	27	2	111	2	CCDC146	7	76797094	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	45898211	76797094	82341569	68	32675										
ADAM7	8756	genome.wustl.edu	37	chr8	24350098	24350098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	caaggaaaacagatttcttcCctgtgaggagaagtaagtgc	11	7	1	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:24350098C>A	ENST00000175238.6	+	15	1726	c.1643C>A	c.(1642-1644)cCc>cAc	p.P548H	ADAM7_ENST00000380789.1_Missense_Mutation_p.P548H|ADAM7_ENST00000520720.1_Missense_Mutation_p.P320H|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	548	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGATTTCTTCCCTGTGAGGAG	0.388																																																	0													83	90	88					8																	24350098		2203	4300	6503	SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1643C>A	8.37:g.24350098C>A	ENSP00000175238:p.Pro548His		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P548H	ENST00000175238.6	37	c.1643	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138682	0.37728	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.23147	1.92;1.92;1.92	5.54	4.66	0.58398	ADAM, cysteine-rich (2);	0.594424	0.16099	N	0.229678	T	0.55878	0.1948	M	0.90759	3.145	0.31053	N	0.715005	D;D	0.76494	0.999;0.993	D;D	0.66196	0.942;0.942	T	0.66097	-0.6008	10	0.87932	D	0	.	12.179	0.54202	0.0:0.9172:0.0:0.0828	.	320;548	E5RK87;Q9H2U9	.;ADAM7_HUMAN	H	548;548;320;363	ENSP00000175238:P548H;ENSP00000370166:P548H;ENSP00000430400:P320H	ENSP00000175238:P548H	P	+	2	0	ADAM7	24405988	0.128000	0.22383	0.285000	0.24819	0.396000	0.30629	2.867000	0.48428	1.362000	0.46000	0.456000	0.33151	CCC	ADAM7	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.388	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	C	NM_003817		24350098	1	no_errors	ENST00000175238	ensembl	human	known	70_37	missense	SNP	0.615	A	A	24350098	C	A	24350098	3	1	173	1	0	0	0	0	1	0	0	0	251	623	22	4	1701	4	ADAM7	8	24350098	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		24350098	122013924	69	32676										
PDP1	54704	genome.wustl.edu	37	chr8	94934993	94934993	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	atattgatgttaaggaggctCtaattaatgccttcaagagg	10	5	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:94934993C>T	ENST00000297598.4	+	2	975	c.706C>T	c.(706-708)Cta>Tta	p.L236L	PDP1_ENST00000520728.1_Silent_p.L236L|PDP1_ENST00000396200.3_Silent_p.L261L|PDP1_ENST00000517764.1_Silent_p.L236L	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	236					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TAAGGAGGCTCTAATTAATGC	0.438																																																	0													121	121	121					8																	94934993		2203	4300	6503	SO:0001819	synonymous_variant	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.706C>T	8.37:g.94934993C>T			B3KX71|J3KPU0|Q5U5K1	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.L261	ENST00000297598.4	37	c.781	CCDS6259.1	8																																																																																			PDP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.438	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	C	NM_018444		94934993	1	no_errors	ENST00000396200	ensembl	human	known	70_37	silent	SNP	0.988	T	T	94934993	C	T	94934993	2	4	173	1	0	0	0	0	0	0	0	1	11709	912	32	1		1	PDP1	8	94934993	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	70584895	94934993	51429029	70	32677										
KIAA1429	25962	genome.wustl.edu	37	chr8	95500998	95500998	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cactaacaaactttcctcttGagcctccactgccgctattt	4	15	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:95500998G>T	ENST00000297591.5	-	24	5450	c.5375C>A	c.(5374-5376)tCa>tAa	p.S1792*	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1792					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTTCCTCTTGAGCCTCCACT	0.493																																																	0													164	143	150					8																	95500998		2203	4300	6503	SO:0001587	stop_gained	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5375C>A	8.37:g.95500998G>T	ENSP00000297591:p.Ser1792*		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S1792*	ENST00000297591.5	37	c.5375	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	G	45	11.924179	0.99618	.	.	ENSG00000164944	ENST00000297591	.	.	.	5.41	5.41	0.78517	.	0.140368	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.4939	19.5665	0.95395	0.0:0.0:1.0:0.0	.	.	.	.	X	1792	.	ENSP00000297591:S1792X	S	-	2	0	KIAA1429	95570174	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	7.421000	0.80204	2.699000	0.92147	0.655000	0.94253	TCA	KIAA1429	-	NULL		0.493	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	G	NM_015496		95500998	-1	no_errors	ENST00000297591	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	95500998	G	T	95500998	4	4	173	1	0	0	0	0	0	1	0	0	8251	1294	45	3	67	3	KIAA1429	8	95500998	Nonsense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	566005	95500998	50863024	71	32678										
EIF2C2	27161	genome.wustl.edu	37	chr8	141559340	141559340	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tatttgcagaagcacggctgGccctggatgggcatgccggc	15	11	0	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:141559340G>T	ENST00000220592.5	-	12	1573	c.1461C>A	c.(1459-1461)ggC>ggA	p.G487G	AGO2_ENST00000519980.1_Silent_p.G487G	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	487					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										AGCACGGCTGGCCCTGGATGG	0.627																																																	0													46	44	44					8																	141559340		2202	4300	6502	SO:0001819	synonymous_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1461C>A	8.37:g.141559340G>T			Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.G487	ENST00000220592.5	37	c.1461	CCDS6380.1	8																																																																																			EIF2C2	-	NULL		0.627	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	G			141559340	-1	no_errors	ENST00000220592	ensembl	human	known	70_37	silent	SNP	0.995	T	T	141559340	G	T	141559340	2	4	173	1	0	0	0	0	0	0	0	1	5016	1190	42	4		4	EIF2C2	8	141559340	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	46058342	141559340	4804682	72	32679										
PTP4A3	11156	genome.wustl.edu	37	chr8	142437923	142437923	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	acgccatccagttcatccgcCagtgagtggccgcggtggtg	14	13	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr8:142437923C>A	ENST00000521578.1	+	5	1348	c.403C>A	c.(403-405)Cag>Aag	p.Q135K	PTP4A3_ENST00000524028.1_Splice_Site_p.Q49K|PTP4A3_ENST00000520105.1_Intron|PTP4A3_ENST00000329397.1_Splice_Site_p.Q135K|PTP4A3_ENST00000349124.1_Intron			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	135	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GTTCATCCGCCAGTGAGTGGC	0.672																																																	0													29	23	25					8																	142437923		2109	4159	6268	SO:0001630	splice_region_variant	11156			AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.404+1C>A	8.37:g.142437923C>A			Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.Q135K	ENST00000521578.1	37	c.403	CCDS6383.1	8	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689664	0.48097	.	.	ENSG00000184489	ENST00000521578;ENST00000329397;ENST00000524028	D;D	0.82433	-1.61;-1.61	4.69	4.69	0.59074	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.062610	0.64402	D	0.000005	T	0.74566	0.3733	N	0.25957	0.775	0.80722	D	1	B	0.06786	0.001	B	0.18561	0.022	T	0.68473	-0.5399	10	0.27785	T	0.31	0.3812	16.708	0.85377	0.0:1.0:0.0:0.0	.	135	O75365	TP4A3_HUMAN	K	135;135;49	ENSP00000428976:Q135K;ENSP00000332274:Q135K	ENSP00000332274:Q135K	Q	+	1	0	PTP4A3	142507105	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	7.500000	0.81588	2.603000	0.88011	0.407000	0.27541	CAG	PTP4A3	-	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase		0.672	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A3	HGNC	protein_coding	OTTHUMT00000378977.1	C	NM_032611	Missense_Mutation	142437923	1	no_errors	ENST00000329397	ensembl	human	known	70_37	missense	SNP	1.000	A	A	142437923	C	A	142437923	5	1	173	1	0	0	0	0	0	0	1	0	12800	608	21	4	417	4	PTP4A3	8	142437923	Splice_Site	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	878583	142437923	3926099	73	32680										
CNTLN	54875	genome.wustl.edu	37	chr9	17394799	17394799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gacaagtggcagaagctaatGcattgagaaatgaaaatgaa	11	4	0	4			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:17394799G>A	ENST00000380647.3	+	15	2431	c.2347G>A	c.(2347-2349)Gca>Aca	p.A783T	CNTLN_ENST00000425824.1_Missense_Mutation_p.A783T|CNTLN_ENST00000262360.5_Missense_Mutation_p.A783T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	783					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAGCTAATGCATTGAGAAA	0.418																																																	0													87	88	87					9																	17394799		1963	4167	6130	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2347G>A	9.37:g.17394799G>A	ENSP00000370021:p.Ala783Thr		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.A783T	ENST00000380647.3	37	c.2347	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339114	0.11069	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18016	2.24;2.24;2.5	5.77	3.95	0.45737	.	.	.	.	.	T	0.10895	0.0266	L	0.36672	1.1	0.21652	N	0.9996	B;B;B	0.30973	0.152;0.302;0.302	B;B;B	0.25140	0.058;0.058;0.036	T	0.31081	-0.9956	9	0.21014	T	0.42	.	4.2851	0.10851	0.2985:0.0:0.5508:0.1507	.	783;783;783	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	783	ENSP00000370021:A783T;ENSP00000392798:A783T;ENSP00000262360:A783T	ENSP00000262360:A783T	A	+	1	0	CNTLN	17384799	0.714000	0.27936	0.533000	0.28001	0.995000	0.86356	0.943000	0.29030	0.796000	0.33947	0.650000	0.86243	GCA	CNTLN	-	NULL		0.418	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	G	NM_017738		17394799	1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	0.290	A	A	17394799	G	A	17394799	3	1	173	1	0	0	0	0	1	0	0	0	3644	1319	46	4	2435	4	CNTLN	9	17394799	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		17394799	123818632	74	32681										
KIF27	55582	genome.wustl.edu	37	chr9	86530456	86530456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tgattatgaagagcttctttGcaaagcagaggtctaattct	9	6	3	4			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:86530456G>A	ENST00000297814.2	-	2	194	c.51C>T	c.(49-51)tgC>tgT	p.C17C	KIF27_ENST00000334204.2_Silent_p.C17C|KIF27_ENST00000413982.1_Silent_p.C17C	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GAGCTTCTTTGCAAAGCAGAG	0.328																																																	0													71	73	72					9																	86530456		2203	4299	6502	SO:0001819	synonymous_variant	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.51C>T	9.37:g.86530456G>A			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C17	ENST00000297814.2	37	c.51	CCDS6665.1	9																																																																																			KIF27	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.328	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	G	NM_017576		86530456	-1	no_errors	ENST00000297814	ensembl	human	known	70_37	silent	SNP	1.000	A	A	86530456	G	A	86530456	2	1	173	1	0	0	0	0	0	0	0	1	8316	1311	46	4		4	KIF27	9	86530456	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	69135657	86530456	54682975	75	32682										
C9orf114	51490	genome.wustl.edu	37	chr9	131591027	131591027	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agctcaccgcggtcctccttCtctgccgctgcctcctcctc	7	21	2	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:131591027C>T	ENST00000361256.5	-	3	235	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	65							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						GGTCCTCCTTCTCTGCCGCTG	0.577																																																	0													100	106	104					9																	131591027		2203	4300	6503	SO:0001819	synonymous_variant	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.195G>A	9.37:g.131591027C>T			Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Silent	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.E65	ENST00000361256.5	37	c.195	CCDS6913.1	9																																																																																			C9orf114	-	NULL		0.577	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	C	NM_016390		131591027	-1	no_errors	ENST00000361256	ensembl	human	known	70_37	silent	SNP	0.000	T	T	131591027	C	T	131591027	2	4	173	1	0	0	0	0	0	0	0	1	2454	912	32	1		1	C9orf114	9	131591027	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	45060571	131591027	9622404	76	32683										
ANAPC2	29882	genome.wustl.edu	37	chr9	140069483	140069483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctgcaggtagccctgcagctCctgcaggtcaatctcggcca	11	15	2	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:140069483C>T	ENST00000323927.2	-	13	2384	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	TMEM210_ENST00000535352.2_5'Flank|ANAPC2_ENST00000487917.1_5'UTR|TMEM210_ENST00000413619.2_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	794					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCCTGCAGCTCCTGCAGGTCA	0.607																																																	0													28	27	27					9																	140069483		2193	4292	6485	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.2380G>A	9.37:g.140069483C>T	ENSP00000314004:p.Glu794Lys		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.E794K	ENST00000323927.2	37	c.2380	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.245170	0.95272	.	.	ENSG00000176248	ENST00000323927	T	0.80566	-1.39	4.22	4.22	0.49857	Winged helix-turn-helix transcription repressor DNA-binding (1);Anaphase-promoting complex subunit 2, C-terminal (1);	0.056820	0.64402	D	0.000001	D	0.89107	0.6621	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.977	D	0.90263	0.4302	10	0.59425	D	0.04	-27.1153	14.1099	0.65115	0.0:1.0:0.0:0.0	.	794;791	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	K	794	ENSP00000314004:E794K	ENSP00000314004:E794K	E	-	1	0	ANAPC2	139189304	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.834000	0.75339	2.175000	0.68902	0.561000	0.74099	GAG	ANAPC2	-	pfam_APC_su2_C		0.607	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	C	NM_013366		140069483	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140069483	C	T	140069483	3	4	173	1	0	0	0	0	1	0	0	0	603	864	30	1	92	1	ANAPC2	9	140069483	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	8478456	140069483	1143948	77	32684										
EHMT1	79813	genome.wustl.edu	37	chr9	140622861	140622861	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gagatcataaggaaccaaaaGaggagatcaacaaaaacatt	8	6	2	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr9:140622861G>T	ENST00000460843.1	+	4	730	c.703G>T	c.(703-705)Gag>Tag	p.E235*	EHMT1_ENST00000462484.1_Nonsense_Mutation_p.E235*|EHMT1_ENST00000334856.6_Nonsense_Mutation_p.E204*|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	235					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGAACCAAAAGAGGAGATCAA	0.443																																																	0													152	144	147					9																	140622861		2203	4300	6503	SO:0001587	stop_gained	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.703G>T	9.37:g.140622861G>T	ENSP00000417980:p.Glu235*		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.E235*	ENST00000460843.1	37	c.703	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	G	38	6.973495	0.97975	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	.	.	.	5.72	5.72	0.89469	.	0.224154	0.39407	N	0.001375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.0591	0.89371	0.0:0.0:1.0:0.0	.	.	.	.	X	204;204;235;235	.	ENSP00000334476:E204X	E	+	1	0	EHMT1	139742682	1.000000	0.71417	0.916000	0.36221	0.953000	0.61014	5.885000	0.69736	2.705000	0.92388	0.585000	0.79938	GAG	EHMT1	-	NULL		0.443	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	G	NM_024757		140622861	1	no_errors	ENST00000460843	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	140622861	G	T	140622861	4	4	173	1	0	0	0	0	0	1	0	0	4993	943	33	3	717	3	EHMT1	9	140622861	Nonsense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	553378	140622861	590570	78	32685										
C10orf18	54906	genome.wustl.edu	37	chr10	5790767	5790767	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccacagagcacgtagaaattGagaacagtggggaggggctc	15	8	0	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:5790767G>C	ENST00000328090.5	+	15	6008	c.5383G>C	c.(5383-5385)Gag>Cag	p.E1795Q		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1795																	CGTAGAAATTGAGAACAGTGG	0.493																																																	0													67	67	67					10																	5790767		1877	4123	6000	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5383G>C	10.37:g.5790767G>C	ENSP00000328426:p.Glu1795Gln		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.E1795Q	ENST00000328090.5	37	c.5383	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	11.92	1.784005	0.31593	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.05258	3.47	5.73	0.45	0.16624	.	1.026640	0.07711	N	0.942137	T	0.04907	0.0132	L	0.27053	0.805	0.09310	N	1	B	0.29432	0.244	B	0.25140	0.058	T	0.46596	-0.9180	10	0.24483	T	0.36	.	8.5807	0.33626	0.3702:0.0:0.6298:0.0	.	1795	Q5VWN6	F208B_HUMAN	Q	1795;990	ENSP00000328426:E1795Q	ENSP00000328426:E1795Q	E	+	1	0	C10orf18	5830773	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.125000	0.15749	0.094000	0.17404	0.563000	0.77884	GAG	FAM208B	-	NULL		0.493	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5790767	1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.000	C	C	5790767	G	C	5790767	3	2	173	1	0	0	0	0	1	0	0	0	1600	1291	45	1	5429	1	C10orf18	10	5790767	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		5790767	129743980	79	32686			1	133		4	4	921	G		2.794294e-08
C10orf18	54906	genome.wustl.edu	37	chr10	5791144	5791144	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	caaatccgagatctccacggGatcctcaggacttacgccaa	8	14	2	1	rs548180605		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:5791144G>C	ENST00000328090.5	+	15	6385	c.5760G>C	c.(5758-5760)ggG>ggC	p.G1920G		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1920																	ATCTCCACGGGATCCTCAGGA	0.527																																																	0													38	40	39					10																	5791144		1991	4162	6153	SO:0001819	synonymous_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5760G>C	10.37:g.5791144G>C			Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.G1920	ENST00000328090.5	37	c.5760	CCDS41485.1	10																																																																																			FAM208B	-	NULL		0.527	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5791144	1	no_errors	ENST00000328090	ensembl	human	known	70_37	silent	SNP	0.108	C	C	5791144	G	C	5791144	2	2	173	1	0	0	0	0	0	0	0	1	1600	1161	41	1		1	C10orf18	10	5791144	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	377	5791144	129743603	80	32687			1	133		4	4	921	G		2.794294e-08
C10orf18	54906	genome.wustl.edu	37	chr10	5791198	5791198	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aaagaactcaaagataccatGagaacttcacacggcctgag	8	10	2	4	rs200720899		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:5791198G>C	ENST00000328090.5	+	15	6439	c.5814G>C	c.(5812-5814)atG>atC	p.M1938I		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1938																	AAGATACCATGAGAACTTCAC	0.537																																																	0								G	ILE/MET	0,4064		0,0,2032	39	41	40		5814	-10.9	0	10		40	1,8361		0,1,4180	yes	missense	FAM208B	NM_017782.4	10	0,1,6212	CC,CG,GG		0.012,0.0,0.0080	benign	1938/2431	5791198	1,12425	2032	4181	6213	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5814G>C	10.37:g.5791198G>C	ENSP00000328426:p.Met1938Ile		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.M1938I	ENST00000328090.5	37	c.5814	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	5.228	0.227491	0.09916	0.0	1.2E-4	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04275	3.66	5.46	-10.9	0.00192	.	0.802103	0.11326	N	0.575585	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41520	-0.9504	10	0.54805	T	0.06	.	3.8004	0.08756	0.5833:0.141:0.0974:0.1783	.	1938	Q5VWN6	F208B_HUMAN	I	1938;1133	ENSP00000328426:M1938I	ENSP00000328426:M1938I	M	+	3	0	C10orf18	5831204	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.375000	0.00493	-2.484000	0.00521	-1.012000	0.02466	ATG	FAM208B	-	NULL		0.537	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5791198	1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.000	C	C	5791198	G	C	5791198	3	2	173	1	0	0	0	0	1	0	0	0	1600	1290	45	1	5860	1	C10orf18	10	5791198	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	54	5791198	129743549	81	32688			1	133		4	4	921	G		2.794294e-08
C10orf18	54906	genome.wustl.edu	37	chr10	5791687	5791687	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctgaaatacaacagtactgtGaaggaatctcggaatgatat	9	6	1	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:5791687G>C	ENST00000328090.5	+	15	6928	c.6303G>C	c.(6301-6303)gtG>gtC	p.V2101V		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2101																	ACAGTACTGTGAAGGAATCTC	0.353																																																	0													61	58	59					10																	5791687		1872	4110	5982	SO:0001819	synonymous_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6303G>C	10.37:g.5791687G>C			Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.V2101	ENST00000328090.5	37	c.6303	CCDS41485.1	10																																																																																			FAM208B	-	NULL		0.353	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5791687	1	no_errors	ENST00000328090	ensembl	human	known	70_37	silent	SNP	0.819	C	C	5791687	G	C	5791687	2	2	173	1	0	0	0	0	0	0	0	1	1600	1277	45	1		1	C10orf18	10	5791687	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	489	5791687	129743060	82	32689			1	133		4	4	921	G		2.794294e-08
ADO	84890	genome.wustl.edu	37	chr10	64565423	64565423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tcgacgccgtggaagggcctGccgccttcctggacatcctg	13	15	0	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:64565423G>A	ENST00000373783.1	+	1	908	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	202						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGAAGGGCCTGCCGCCTTCCT	0.701																																																	0													27	25	25					10																	64565423		2199	4297	6496	SO:0001583	missense	84890			BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.604G>A	10.37:g.64565423G>A	ENSP00000362888:p.Ala202Thr		B1AL29	Missense_Mutation	SNP	pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.A202T	ENST00000373783.1	37	c.604	CCDS7266.2	10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567580	0.86439	.	.	ENSG00000181915	ENST00000373783	T	0.54675	0.56	5.11	4.18	0.49190	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.256048	0.38720	N	0.001593	T	0.49389	0.1554	L	0.31120	0.905	0.47584	D	0.999465	B	0.32302	0.363	P	0.44647	0.456	T	0.38415	-0.9662	10	0.21540	T	0.41	-16.8962	13.5807	0.61901	0.0:0.0:0.8429:0.1571	.	202	Q96SZ5	AEDO_HUMAN	T	202	ENSP00000362888:A202T	ENSP00000362888:A202T	A	+	1	0	ADO	64235429	1.000000	0.71417	0.966000	0.40874	0.993000	0.82548	5.099000	0.64554	1.089000	0.41292	0.655000	0.94253	GCC	ADO	-	pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin		0.701	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADO	HGNC	protein_coding	OTTHUMT00000048243.2	G	NM_032804		64565423	1	no_errors	ENST00000373783	ensembl	human	known	70_37	missense	SNP	0.999	A	A	64565423	G	A	64565423	3	1	173	1	0	0	0	0	1	0	0	0	325	1319	46	4	606	4	ADO	10	64565423	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	58773736	64565423	70969324	83	32690										
TET1	80312	genome.wustl.edu	37	chr10	70404519	70404519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	catggactacagtagatgtgGtcatggggaagaacaaaaat	12	5	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:70404519G>T	ENST00000373644.4	+	4	2242	c.2033G>T	c.(2032-2034)gGt>gTt	p.G678V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	678					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTAGATGTGGTCATGGGGAA	0.388																																																	0													57	54	55					10																	70404519		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2033G>T	10.37:g.70404519G>T	ENSP00000362748:p.Gly678Val		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.G678V	ENST00000373644.4	37	c.2033	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421887	0.43020	.	.	ENSG00000138336	ENST00000373644	T	0.08896	3.04	5.93	5.02	0.67125	.	0.822182	0.10636	N	0.651597	T	0.15262	0.0368	L	0.29908	0.895	0.53005	D	0.999965	D	0.64830	0.994	P	0.57720	0.826	T	0.01800	-1.1271	10	0.62326	D	0.03	.	10.5192	0.44910	0.0686:0.1344:0.797:0.0	.	678	Q8NFU7	TET1_HUMAN	V	678	ENSP00000362748:G678V	ENSP00000362748:G678V	G	+	2	0	TET1	70074525	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.594000	0.54008	1.514000	0.48869	0.655000	0.94253	GGT	TET1	-	NULL		0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	G	NM_030625		70404519	1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70404519	G	T	70404519	3	4	173	1	0	0	0	0	1	0	0	0	15799	1261	44	4	2043	4	TET1	10	70404519	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	5839096	70404519	65130228	84	32691										
MYOZ1	58529	genome.wustl.edu	37	chr10	75399732	75399732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gttccatgatcagcttgctgGatttcctcttcttattaggg	9	9	3	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:75399732G>A	ENST00000359322.4	-	2	408	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CAGCTTGCTGGATTTCCTCTT	0.522																																																	0													170	146	154					10																	75399732		2203	4300	6503	SO:0001583	missense	58529			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.44C>T	10.37:g.75399732G>A	ENSP00000352272:p.Ser15Phe			Missense_Mutation	SNP	pfam_Calsarcin-bd	p.S15F	ENST00000359322.4	37	c.44	CCDS7330.1	10	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620233	0.87460	.	.	ENSG00000177791	ENST00000359322	T	0.65549	-0.16	5.87	5.87	0.94306	.	0.291574	0.44688	D	0.000421	T	0.68458	0.3003	L	0.56769	1.78	0.48395	D	0.999648	P	0.49253	0.921	P	0.48952	0.596	T	0.69884	-0.5024	10	0.56958	D	0.05	-7.065	17.6998	0.88291	0.0:0.0:1.0:0.0	.	15	Q9NP98	MYOZ1_HUMAN	F	15	ENSP00000352272:S15F	ENSP00000352272:S15F	S	-	2	0	MYOZ1	75069738	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.847000	0.75404	2.785000	0.95823	0.655000	0.94253	TCC	MYOZ1	-	pfam_Calsarcin-bd		0.522	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ1	HGNC	protein_coding	OTTHUMT00000048654.1	G			75399732	-1	no_errors	ENST00000359322	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75399732	G	A	75399732	3	1	173	1	0	0	0	0	1	0	0	0	10118	1174	41	1	875	1	MYOZ1	10	75399732	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	4995213	75399732	60135015	85	32692										
DLG5	9231	genome.wustl.edu	37	chr10	79553837	79553837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gctctttggaatgcctctgaGtcaccttgtccctcaggtag	10	12	4	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:79553837G>A	ENST00000372391.2	-	31	5590	c.5585C>T	c.(5584-5586)aCt>aTt	p.T1862I	RP13-39P12.3_ENST00000601701.1_RNA|DLG5_ENST00000372388.2_Missense_Mutation_p.T1522I|DLG5_ENST00000459739.1_5'UTR|RP13-39P12.3_ENST00000434097.2_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1862	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGCCTCTGAGTCACCTTGTC	0.597																																																	0													253	206	222					10																	79553837		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5585C>T	10.37:g.79553837G>A	ENSP00000361467:p.Thr1862Ile		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.T1862I	ENST00000372391.2	37	c.5585	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	G	31	5.076272	0.94000	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.45276	0.9;0.9;0.9	5.86	5.86	0.93980	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.40222	N	0.001153	T	0.61726	0.2370	L	0.54323	1.7	0.54753	D	0.999989	D;D	0.71674	0.992;0.998	D;D	0.66497	0.944;0.915	T	0.61187	-0.7113	10	0.72032	D	0.01	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	1862;1522	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	I	1862;823;1522	ENSP00000361467:T1862I;ENSP00000394797:T823I;ENSP00000361464:T1522I	ENSP00000361464:T1522I	T	-	2	0	DLG5	79223843	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.185000	0.94900	2.775000	0.95449	0.655000	0.94253	ACT	DLG5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	G			79553837	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79553837	G	A	79553837	3	1	173	1	0	0	0	0	1	0	0	0	4568	1029	36	4	182	4	DLG5	10	79553837	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	4154105	79553837	55980910	86	32693										
SFTPA2	729238	genome.wustl.edu	37	chr10	81317074	81317074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cccgacctgcaggctcccctCggtaccagttggtgtagttt	11	14	0	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:81317074C>T	ENST00000372325.2	-	6	722	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R213Q	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	213	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.R213L(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGCTCCCCTCGGTACCAGTT	0.547									Pulmonary Fibrosis, Idiopathic																																								1	Substitution - Missense(1)	lung(1)											240	232	235					10																	81317074		2203	4296	6499	SO:0001583	missense	729238	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"Collectins"	10799	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A2A"	178642	"surfactant, pulmonary-associated protein A2"				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.638G>A	10.37:g.81317074C>T	ENSP00000361400:p.Arg213Gln		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R213Q	ENST00000372325.2	37	c.638	CCDS41540.1	10	.	.	.	.	.	.	.	.	.	.	N	4.051	0.007203	0.07866	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327	T;T	0.57907	0.37;0.37	2.81	0.511	0.16989	.	0.642320	0.15310	N	0.269134	T	0.20333	0.0489	N	0.02403	-0.565	0.19575	N	0.999962	B	0.12013	0.005	B	0.11329	0.006	T	0.20107	-1.0285	10	0.17369	T	0.5	0.0426	4.8116	0.13345	0.0:0.2054:0.4016:0.393	.	213	E3VLC8	.	Q	213;179;213	ENSP00000361400:R213Q;ENSP00000361402:R213Q	ENSP00000361400:R213Q	R	-	2	0	SFTPA2	80987080	0.000000	0.05858	0.998000	0.56505	0.181000	0.23173	-1.493000	0.02298	0.290000	0.22444	-0.544000	0.04233	CGA	SFTPA2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.547	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SFTPA2	HGNC	protein_coding	OTTHUMT00000048961.1	C	NM_001098668		81317074	-1	no_errors	ENST00000372325	ensembl	human	known	70_37	missense	SNP	0.994	T	T	81317074	C	T	81317074	3	4	173	1	0	0	0	0	1	0	0	0	14220	884	31	1	112	1	SFTPA2	10	81317074	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	1763237	81317074	54217673	87	32694										
PLCE1	51196	genome.wustl.edu	37	chr10	95849061	95849061	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttgaaggttggttggctcttCccgctctctgaggtacccaa	11	11	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:95849061C>G	ENST00000371380.3	+	2	1441				PLCE1_ENST00000371375.1_Missense_Mutation_p.F70L|PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.F70L|RP11-429H9.4_ENST00000438899.1_RNA			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTTGGCTCTTCCCGCTCTCTG	0.512																																																	0													159	143	148					10																	95849061		1568	3582	5150	SO:0001627	intron_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42870C>G	10.37:g.95849061C>G			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.F70L	ENST00000371380.3	37	c.210	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	2.320	-0.355846	0.05138	.	.	ENSG00000138193	ENST00000371385;ENST00000371375	T;T	0.22743	1.94;1.94	5.8	1.12	0.20585	.	.	.	.	.	T	0.06781	0.0173	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.40251	-0.9573	8	0.02654	T	1	.	5.0137	0.14326	0.0:0.4338:0.3211:0.2451	.	70	Q9P212-2	.	L	70	ENSP00000360438:F70L;ENSP00000360426:F70L	ENSP00000360426:F70L	F	+	3	2	PLCE1	95839051	0.001000	0.12720	0.474000	0.27266	0.788000	0.44548	0.332000	0.19751	0.314000	0.23086	0.650000	0.86243	TTC	PLCE1	-	NULL		0.512	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95849061	1	no_errors	ENST00000371375	ensembl	human	known	70_37	missense	SNP	0.131	G	G	95849061	C	G	95849061	1	3	173	0	1	0	0	0	0	0	0	0	12058	854	30	1		1	PLCE1	10	95849061	Intron	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	14531987	95849061	39685686	88	32695										
PSD	5662	genome.wustl.edu	37	chr10	104163067	104163067	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggagggactggagtgagaagGagggagtccatcctctgtgc	18	7	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:104163067G>C	ENST00000020673.5	-	17	3491	c.2965C>G	c.(2965-2967)Cct>Gct	p.P989A	PSD_ENST00000406432.1_Missense_Mutation_p.P989A	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	989					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAGTGAGAAGGAGGGAGTCCA	0.682																																																	0													80	57	65					10																	104163067		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2965C>G	10.37:g.104163067G>C	ENSP00000020673:p.Pro989Ala		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.P989A	ENST00000020673.5	37	c.2965	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	4.331	0.060736	0.08339	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.15952	2.38;2.38	4.62	1.38	0.22167	.	0.584827	0.17526	N	0.171067	T	0.08891	0.0220	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.26573	-1.0099	10	0.56958	D	0.05	.	7.8635	0.29524	0.0:0.4402:0.3006:0.2593	.	989;892;610	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	A	989;892;989	ENSP00000020673:P989A;ENSP00000384830:P989A	ENSP00000020673:P989A	P	-	1	0	PSD	104153057	0.005000	0.15991	0.001000	0.08648	0.675000	0.39556	0.979000	0.29500	0.505000	0.28104	0.313000	0.20887	CCT	PSD	-	NULL		0.682	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104163067	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.001	C	C	104163067	G	C	104163067	3	2	173	1	0	0	0	0	1	0	0	0	12673	1174	41	1	113	1	PSD	10	104163067	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	8314006	104163067	31371680	89	32696										
FBXL15	79176	genome.wustl.edu	37	chr10	104182625	104182625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggcactgccaccatgtggcgGagtccagcctgagccgcttg	14	14	0	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:104182625G>A	ENST00000224862.3	+	4	2094	c.778G>A	c.(778-780)Gag>Aag	p.E260K	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_5'Flank|CUEDC2_ENST00000465409.1_5'Flank|FBXL15_ENST00000369956.2_Missense_Mutation_p.E256K	NM_024326.3	NP_077302.3	Q9H469	FXL15_HUMAN	F-box and leucine-rich repeat protein 15	260	Interaction with SMURF1.				bone mineralization (GO:0030282)|dorsal/ventral pattern formation (GO:0009953)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of BMP signaling pathway (GO:0030513)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)				kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		CCATGTGGCGGAGTCCAGCCT	0.687											OREG0020479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													19	20	20					10																	104182625		2201	4298	6499	SO:0001583	missense	79176			BC036120	CCDS31273.1	10q24.32	2011-06-09	2004-06-15	2004-06-16	ENSG00000107872	ENSG00000107872		"F-boxes / Leucine-rich repeats"	28155	protein-coding gene	gene with protein product		610287	"F-box only protein 37"	FBXO37			Standard	NM_024326		Approved	MGC11279, Fbl15	uc001kvk.2	Q9H469	OTTHUMG00000018957	ENST00000224862.3:c.778G>A	10.37:g.104182625G>A	ENSP00000224862:p.Glu260Lys	1379	A1L4J8|B1AKX8|B1AKX9|B1AKY0|B1AKY1|C9JWA4|Q0D2Q3|Q49AL7|Q5JWA5	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.E260K	ENST00000224862.3	37	c.778	CCDS31273.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.348631	0.95807	.	.	ENSG00000107872	ENST00000224862;ENST00000369956	T;T	0.17528	2.27;2.27	4.16	4.16	0.48862	.	0.116706	0.56097	D	0.000022	T	0.40694	0.1127	M	0.67569	2.06	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.41124	-0.9526	10	0.87932	D	0	.	16.6646	0.85249	0.0:0.0:1.0:0.0	.	260	Q9H469	FXL15_HUMAN	K	260;256	ENSP00000224862:E260K;ENSP00000358972:E256K	ENSP00000224862:E260K	E	+	1	0	FBXL15	104172615	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	9.150000	0.94667	2.155000	0.67459	0.313000	0.20887	GAG	FBXL15	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.687	FBXL15-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL15	HGNC	protein_coding		G	XM_370575		104182625	1	no_errors	ENST00000224862	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104182625	G	A	104182625	3	1	173	1	0	0	0	0	1	0	0	0	5729	1175	41	1	792	1	FBXL15	10	104182625	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	19558	104182625	31352122	90	32697										
C10orf79	80217	genome.wustl.edu	37	chr10	105920872	105920872	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gaattgttttctttcttcttCagtccacacagcatcaggtt	6	10	5	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:105920872C>T	ENST00000357060.3	-	27	3578	c.3463G>A	c.(3463-3465)Gaa>Aaa	p.E1155K	WDR96_ENST00000428666.1_Missense_Mutation_p.E1156K	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTTCTTCTTCAGTCCACACA	0.328																																																	0													107	97	100					10																	105920872		2203	4299	6502	SO:0001583	missense	80217																														ENST00000357060.3:c.3463G>A	10.37:g.105920872C>T	ENSP00000349568:p.Glu1155Lys			Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.E1155K	ENST00000357060.3	37	c.3463	CCDS31281.1	10	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006135	0.93287	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.19394	2.2;2.15	5.69	5.69	0.88448	.	0.056725	0.64402	D	0.000001	T	0.48554	0.1506	M	0.72624	2.21	0.43761	D	0.99627	D;D	0.89917	0.991;1.0	D;D	0.76575	0.937;0.988	T	0.38779	-0.9645	10	0.52906	T	0.07	.	19.4031	0.94639	0.0:1.0:0.0:0.0	.	1156;1155	G5E9L1;Q8NDM7	.;WDR96_HUMAN	K	1155;1156	ENSP00000349568:E1155K;ENSP00000400289:E1156K	ENSP00000349568:E1155K	E	-	1	0	WDR96	105910862	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.100000	0.71473	2.671000	0.90904	0.655000	0.94253	GAA	WDR96	-	NULL		0.328	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	HGNC	protein_coding		C			105920872	-1	no_errors	ENST00000357060	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105920872	C	T	105920872	3	4	173	1	0	0	0	0	1	0	0	0	1622	835	29	1	1582	1	C10orf79	10	105920872	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	1738247	105920872	29613875	91	32698										
C10orf46	143384	genome.wustl.edu	37	chr10	120488876	120488876	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agatcactatacatctgttcCgagtgctgctggcatacaca	8	11	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:120488876C>G	ENST00000369151.3	-	3	1011	c.528G>C	c.(526-528)tcG>tcC	p.S176S	CACUL1_ENST00000340214.4_Silent_p.S176S|CACUL1_ENST00000544392.1_5'Flank	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	176					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)	p.S176S(1)									ACATCTGTTCCGAGTGCTGCT	0.363																																																	1	Substitution - coding silent(1)	endometrium(1)											96	89	91					10																	120488876		1849	4099	5948	SO:0001819	synonymous_variant	143384			AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"Cdk-Associated Cullin1"		"chromosome 10 open reading frame 46"	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.528G>C	10.37:g.120488876C>G			Q5XPL7|Q8IY11|Q8N7S4	Silent	SNP	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	p.S176	ENST00000369151.3	37	c.528	CCDS41570.1	10																																																																																			CACUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.363	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACUL1	HGNC	protein_coding	OTTHUMT00000050612.2	C	NM_153810		120488876	-1	no_errors	ENST00000369151	ensembl	human	known	70_37	silent	SNP	0.719	G	G	120488876	C	G	120488876	2	3	173	1	0	0	0	0	0	0	0	1	1608	639	23	2		2	C10orf46	10	120488876	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	14568004	120488876	15045871	92	32699										
BTBD16	118663	genome.wustl.edu	37	chr10	124089058	124089058	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agcttgaggccgctcttcctCtgcttgcgtctgcacggcat	11	14	3	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:124089058C>T	ENST00000260723.4	+	11	1226	c.975C>T	c.(973-975)ctC>ctT	p.L325L	BTBD16_ENST00000368994.2_Silent_p.L326L	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	325										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CGCTCTTCCTCTGCTTGCGTC	0.587																																																	0													132	117	122					10																	124089058		2203	4300	6503	SO:0001819	synonymous_variant	118663			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.975C>T	10.37:g.124089058C>T			A6NM63|Q4VXL1|Q96LN0	Silent	SNP	superfamily_BTB/POZ_fold	p.L326	ENST00000260723.4	37	c.978	CCDS31301.1	10																																																																																			BTBD16	-	NULL		0.587	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	HGNC	protein_coding	OTTHUMT00000050780.3	C	NM_144587		124089058	1	no_errors	ENST00000368994	ensembl	human	known	70_37	silent	SNP	0.083	T	T	124089058	C	T	124089058	2	4	173	1	0	0	0	0	0	0	0	1	1544	900	32	1		1	BTBD16	10	124089058	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	3600182	124089058	11445689	93	32700										
ADAM12	8038	genome.wustl.edu	37	chr10	127786985	127786985	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tcccaatgcccttggcttacCatgacaattcccccagactg	6	16	0	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr10:127786985C>T	ENST00000368679.4	-	10	1314	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	ADAM12_ENST00000368676.4_Splice_Site_p.M335I	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	335	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTGGCTTACCATGACAATTC	0.473																																																	0													165	153	157					10																	127786985		2203	4300	6503	SO:0001630	splice_region_variant	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1005+1G>A	10.37:g.127786985C>T			O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.M335I	ENST00000368679.4	37	c.1005	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009081	0.93346	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.86297	-2.1;-2.1	4.83	4.83	0.62350	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.76494	0.991;0.988;0.997;0.997;0.999	D;D;D;D;D	0.87578	0.989;0.981;0.993;0.993;0.998	D	0.92348	0.5887	9	.	.	.	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	332;332;335;332;335	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	I	335	ENSP00000357668:M335I;ENSP00000357665:M335I	.	M	-	3	0	ADAM12	127776975	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.502000	0.81614	2.655000	0.90218	0.655000	0.94253	ATG	ADAM12	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	C		Missense_Mutation	127786985	-1	no_errors	ENST00000368679	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127786985	C	T	127786985	5	4	173	1	0	0	0	0	0	0	1	0	236	608	21	4	1888	4	ADAM12	10	127786985	Splice_Site	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	3697927	127786985	7747762	94	32701										
OR52N1	79473	genome.wustl.edu	37	chr11	5809374	5809374	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tgatagactcacaactgcttGaagaatcatagtgtaggaga	10	6	2	5			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:5809374G>A	ENST00000317078.1	-	1	672	c.673C>T	c.(673-675)Caa>Taa	p.Q225*	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACAACTGCTTGAAGAATCATA	0.478																																																	0													130	118	122					11																	5809374		2201	4296	6497	SO:0001587	stop_gained	79473			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.673C>T	11.37:g.5809374G>A	ENSP00000322823:p.Gln225*		Q6IFF6	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.Q225*	ENST00000317078.1	37	c.673	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400165	0.25291	.	.	ENSG00000181001	ENST00000317078	.	.	.	4.71	-0.238	0.13055	.	0.655377	0.12417	N	0.470757	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.0151	0.64519	0.0:0.0:0.2364:0.7636	.	.	.	.	X	225	.	ENSP00000322823:Q225X	Q	-	1	0	OR52N1	5765950	0.000000	0.05858	0.023000	0.16930	0.352000	0.29268	-0.509000	0.06336	0.144000	0.18951	0.609000	0.83330	CAA	OR52N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	G	NM_001001913		5809374	-1	no_errors	ENST00000317078	ensembl	human	known	70_37	nonsense	SNP	0.007	A	A	5809374	G	A	5809374	4	1	173	1	0	0	0	0	0	1	0	0	11151	1299	45	1	292	1	OR52N1	11	5809374	Nonsense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		5809374	129197142	95	32702										
PSMA1	5682	genome.wustl.edu	37	chr11	14535160	14535160	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tctccaagtaagtacgagctGattgggaacgggctccaatg	12	9	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:14535160G>C	ENST00000396394.2	-	7	896	c.500C>G	c.(499-501)tCa>tGa	p.S167*	PSMA1_ENST00000396393.1_Nonsense_Mutation_p.S167*|PSMA1_ENST00000530457.1_Nonsense_Mutation_p.S142*|PSMA1_ENST00000555531.1_Missense_Mutation_p.Q148E|PSMA1_ENST00000418988.2_Nonsense_Mutation_p.S173*|PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000419365.2_Missense_Mutation_p.Q148E	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AGTACGAGCTGATTGGGAACG	0.388																																																	0													67	68	68					11																	14535160		2200	4294	6494	SO:0001587	stop_gained	5682			X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"Proteasome (prosome, macropain) subunits"	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.500C>G	11.37:g.14535160G>C	ENSP00000379676:p.Ser167*		A8K400|Q53YE8|Q9BRV9	Nonsense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.S173*	ENST00000396394.2	37	c.518	CCDS7816.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.119617|6.119617	0.97300|0.97300	.|.	.|.	ENSG00000129084|ENSG00000129084	ENST00000419365|ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T|.	0.46451|.	0.87|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.74084|.	0.3670|.	.|.	.|.	.|.	0.33079|0.33079	D|D	0.536333|0.536333	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79463|.	-0.1793|.	6|.	0.87932|0.87932	D|D	0|0	-12.6208|-12.6208	20.452|20.452	0.99131|0.99131	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	148|167;167;142;173	ENSP00000392242:Q148E|.	ENSP00000392242:Q148E|ENSP00000379675:S167X	Q|S	-|-	1|2	0|0	PSMA1|PSMA1	14491736|14491736	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.571000|0.571000	0.35966|0.35966	8.928000|8.928000	0.92853|0.92853	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	CAG|TCA	PSMA1	-	pfam_Proteasome_sua/b		0.388	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA1	HGNC	protein_coding	OTTHUMT00000386421.3	G	NM_002786		14535160	-1	no_errors	ENST00000418988	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	14535160	G	C	14535160	4	2	173	1	0	0	0	0	0	1	0	0	12693	1294	45	1	307	1	PSMA1	11	14535160	Nonsense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	8725786	14535160	120471356	96	32703										
ARFGAP2	84364	genome.wustl.edu	37	chr11	47188066	47188066	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cagggccctacctgctccgtGagctccatccatgtccccaa	8	18	0	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:47188066G>A	ENST00000524782.1	-	14	1645	c.1417C>T	c.(1417-1419)Cac>Tac	p.H473Y	ARFGAP2_ENST00000395449.3_5'UTR|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.H204Y|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.H337Y|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.H366Y	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	473	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTGCTCCGTGAGCTCCATCC	0.637																																																	0													40	40	40					11																	47188066		2201	4299	6500	SO:0001583	missense	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1417C>T	11.37:g.47188066G>A	ENSP00000434442:p.His473Tyr		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.H473Y	ENST00000524782.1	37	c.1417	CCDS7926.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.13|14.13	2.442575|2.442575	0.43326|0.43326	.|.	.|.	ENSG00000149182|ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701|ENST00000527776	T;T;T;T|.	0.08282|.	3.4;3.54;3.11;3.27|.	5.72|5.72	4.81|4.81	0.61882|0.61882	.|.	0.474372|.	0.25402|.	N|.	0.030939|.	T|T	0.43722|0.43722	0.1260|0.1260	L|L	0.55481|0.55481	1.735|1.735	0.22926|0.22926	N|N	0.998558|0.998558	P;P;B|.	0.47106|.	0.89;0.669;0.048|.	B;B;B|.	0.40506|.	0.331;0.093;0.027|.	T|T	0.35226|0.35226	-0.9797|-0.9797	10|5	0.72032|.	D|.	0.01|.	-1.0314|-1.0314	7.4979|7.4979	0.27500|0.27500	0.0822:0.0:0.7506:0.1672|0.0822:0.0:0.7506:0.1672	.|.	366;337;473|.	B4DX29;G5E9L0;Q8N6H7|.	.;.;ARFG2_HUMAN|.	Y|L	337;473;204;366|194	ENSP00000400226:H337Y;ENSP00000434442:H473Y;ENSP00000327309:H204Y;ENSP00000389264:H366Y|.	ENSP00000327309:H204Y|.	H|S	-|-	1|2	0|0	ARFGAP2|ARFGAP2	47144642|47144642	0.768000|0.768000	0.28519|0.28519	0.996000|0.996000	0.52242|0.52242	0.866000|0.866000	0.49608|0.49608	1.548000|1.548000	0.36201|0.36201	1.400000|1.400000	0.46741|0.46741	0.655000|0.655000	0.94253|0.94253	CAC|TCA	ARFGAP2	-	NULL		0.637	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP2	HGNC	protein_coding	OTTHUMT00000391425.1	G	NM_032389		47188066	-1	no_errors	ENST00000524782	ensembl	human	known	70_37	missense	SNP	0.971	A	A	47188066	G	A	47188066	3	1	173	1	0	0	0	0	1	0	0	0	850	1290	45	1	160	1	ARFGAP2	11	47188066	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	32652906	47188066	87818450	97	32704										
FNBP4	23360	genome.wustl.edu	37	chr11	47758253	47758253	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctacttccatctctttatctGaattctcatctattttttct	1	11	5	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:47758253G>A	ENST00000263773.5	-	9	1508	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	499						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CTCTTTATCTGAATTCTCATC	0.289																																																	0													114	98	103					11																	47758253		1786	4060	5846	SO:0001583	missense	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1496C>T	11.37:g.47758253G>A	ENSP00000263773:p.Ser499Leu		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S499L	ENST00000263773.5	37	c.1496	CCDS41644.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640308	0.87859	.	.	ENSG00000109920	ENST00000263773	T	0.12672	2.66	5.66	5.66	0.87406	.	0.471757	0.23819	N	0.044242	T	0.17066	0.0410	L	0.29908	0.895	0.54753	D	0.99998	D	0.53151	0.958	P	0.47827	0.558	T	0.00303	-1.1833	10	0.66056	D	0.02	-17.3962	16.8398	0.85965	0.0:0.0:1.0:0.0	.	499	Q8N3X1	FNBP4_HUMAN	L	499	ENSP00000263773:S499L	ENSP00000263773:S499L	S	-	2	0	FNBP4	47714829	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.290000	0.65661	2.831000	0.97527	0.650000	0.86243	TCA	FNBP4	-	NULL		0.289	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	G			47758253	-1	no_errors	ENST00000263773	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47758253	G	A	47758253	3	1	173	1	0	0	0	0	1	0	0	0	5985	1294	45	1	1593	1	FNBP4	11	47758253	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	570187	47758253	87248263	98	32705										
VWCE	220001	genome.wustl.edu	37	chr11	61026536	61026536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agtggctgtcagccccaaagCgagtgagtgtggaccatgag	15	9	1	2	rs141851975	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:61026536C>T	ENST00000335613.5	-	20	2865	c.2479G>A	c.(2479-2481)Gct>Act	p.A827T	VWCE_ENST00000535710.1_Missense_Mutation_p.A292T	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	827						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCCCCAAAGCGAGTGAGTGT	0.592																																																	0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	51	55	54		2479	-8	0	11	dbSNP_134	54	3,8595	3.0+/-9.4	0,3,4296	yes	missense	VWCE	NM_152718.2	58	0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308	benign	827/956	61026536	4,13000	2203	4299	6502	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2479G>A	11.37:g.61026536C>T	ENSP00000334186:p.Ala827Thr		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.A827T	ENST00000335613.5	37	c.2479	CCDS8002.1	11	.	.	.	.	.	.	.	.	.	.	C	2.968	-0.213117	0.06140	2.27E-4	3.49E-4	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.68765	-0.35;3.53	4.31	-7.97	0.01139	.	1.852490	0.03201	N	0.174838	T	0.37625	0.1010	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35051	-0.9804	10	0.09084	T	0.74	.	2.2645	0.04075	0.3735:0.3127:0.2091:0.1047	.	827	Q96DN2	VWCE_HUMAN	T	827;292	ENSP00000334186:A827T;ENSP00000442570:A292T	ENSP00000334186:A827T	A	-	1	0	VWCE	60783112	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.859000	0.04277	-2.055000	0.00899	-2.068000	0.00393	GCT	VWCE	-	NULL		0.592	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	C	NM_152718		61026536	-1	no_errors	ENST00000335613	ensembl	human	known	70_37	missense	SNP	0.000	T	T	61026536	C	T	61026536	3	4	173	1	0	0	0	0	1	0	0	0	17276	768	27	2	392	2	VWCE	11	61026536	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	13268283	61026536	73979980	99	32706										
SLC22A25	387601	genome.wustl.edu	37	chr11	62933611	62933611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tcatgtgattcagtgcccaaGgtgcaacacaattggccagg	11	10	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:62933611G>A	ENST00000306494.6	-	7	1189	c.1190C>T	c.(1189-1191)cCt>cTt	p.P397L	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGTGCCCAAGGTGCAACACA	0.507																																																	0													141	114	123					11																	62933611		2201	4298	6499	SO:0001583	missense	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1190C>T	11.37:g.62933611G>A	ENSP00000307443:p.Pro397Leu			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P397L	ENST00000306494.6	37	c.1190	CCDS31592.1	11	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.486789	0.01018	.	.	ENSG00000196600	ENST00000306494	T	0.57595	0.39	4.66	2.25	0.28309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.989663	0.08225	N	0.978496	T	0.16041	0.0386	N	0.00602	-1.34	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32052	-0.9921	10	0.02654	T	1	.	3.4442	0.07474	0.6795:0.0:0.115:0.2055	.	397	Q6T423	S22AP_HUMAN	L	397	ENSP00000307443:P397L	ENSP00000307443:P397L	P	-	2	0	SLC22A25	62690187	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.325000	0.19628	0.153000	0.19213	-0.495000	0.04643	CCT	SLC22A25	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.507	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	HGNC	protein_coding	OTTHUMT00000383519.3	G	NM_199352		62933611	-1	no_errors	ENST00000306494	ensembl	human	known	70_37	missense	SNP	0.000	A	A	62933611	G	A	62933611	3	1	173	1	0	0	0	0	1	0	0	0	14484	1000	35	4	465	4	SLC22A25	11	62933611	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	1907075	62933611	72072905	100	32707										
FERMT3	83706	genome.wustl.edu	37	chr11	63986736	63986736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gctccagacagaccccgtgcGgctgacacagctgtatgagc	12	14	0	4			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:63986736G>A	ENST00000279227.5	+	7	895	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	FERMT3_ENST00000345728.5_Missense_Mutation_p.R267Q	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	267	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GACCCCGTGCGGCTGACACAG	0.662																																																	0													22	22	22					11																	63986736		2195	4294	6489	SO:0001583	missense	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.800G>A	11.37:g.63986736G>A	ENSP00000279227:p.Arg267Gln		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R267Q	ENST00000279227.5	37	c.800	CCDS8060.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695511	0.88830	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.80123	-1.34;-1.34;-1.34	5.04	5.04	0.67666	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.87676	0.2544	10	0.27082	T	0.32	-35.7929	17.5227	0.87792	0.0:0.0:1.0:0.0	.	267;267	Q86UX7-2;Q86UX7	.;URP2_HUMAN	Q	267	ENSP00000445778:R267Q;ENSP00000339950:R267Q;ENSP00000279227:R267Q	ENSP00000279227:R267Q	R	+	2	0	FERMT3	63743312	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	9.540000	0.98080	2.513000	0.84729	0.563000	0.77884	CGG	FERMT3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.662	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	G	NM_031471		63986736	1	no_errors	ENST00000279227	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63986736	G	A	63986736	3	1	173	1	0	0	0	0	1	0	0	0	5837	1116	39	2	822	2	FERMT3	11	63986736	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	1053125	63986736	71019780	101	32708										
ARAP1	116985	genome.wustl.edu	37	chr11	72422481	72422481	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gatgcaggcctcaccttgttActgtcaaagtatcgcaggtg	11	10	2	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:72422481A>G	ENST00000393609.3	-	8	1288	c.1086T>C	c.(1084-1086)agT>agC	p.S362S	ARAP1_ENST00000426523.1_Silent_p.S117S|ARAP1_ENST00000455638.2_Silent_p.S362S|ARAP1_ENST00000429686.1_Silent_p.S117S|ARAP1_ENST00000359373.5_Silent_p.S362S|ARAP1_ENST00000393605.3_Silent_p.S122S|ARAP1_ENST00000334211.8_Silent_p.S117S	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	362	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCACCTTGTTACTGTCAAAGT	0.572																																					Ovarian(102;1198 1520 13195 17913 37529)												0													140	119	126					11																	72422481		2200	4293	6493	SO:0001819	synonymous_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1086T>C	11.37:g.72422481A>G			A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S362	ENST00000393609.3	37	c.1086	CCDS41687.1	11																																																																																			ARAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.572	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	A	NM_001040118		72422481	-1	no_errors	ENST00000393609	ensembl	human	known	70_37	silent	SNP	1.000	G	G	72422481	A	G	72422481	2	3	173	1	0	0	0	0	0	0	0	1	838	388	14	5		5	ARAP1	11	72422481	Silent	SNP	A	TCGA-LP-A7HU-01A-11D-A33O-09	8435745	72422481	62584035	102	32709										
GDPD5	81544	genome.wustl.edu	37	chr11	75152240	75152240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gggggaaggcacctgggacaGggcgtgggagttgtcagagg	22	6	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:75152240G>T	ENST00000336898.3	-	14	2278	c.1441C>A	c.(1441-1443)Ctg>Atg	p.L481M	GDPD5_ENST00000376282.3_Missense_Mutation_p.L362M|GDPD5_ENST00000529721.1_Missense_Mutation_p.L481M|GDPD5_ENST00000526177.1_Missense_Mutation_p.L343M|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.L236M|GDPD5_ENST00000533784.1_Missense_Mutation_p.L362M	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	481	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						ACCTGGGACAGGGCGTGGGAG	0.642																																																	0													64	47	53					11																	75152240		2200	4293	6493	SO:0001583	missense	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1441C>A	11.37:g.75152240G>T	ENSP00000337972:p.Leu481Met		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.L481M	ENST00000336898.3	37	c.1441	CCDS8238.1	11	.	.	.	.	.	.	.	.	.	.	g	19.57	3.852591	0.71719	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	4.84	2.85	0.33270	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.153558	0.44483	D	0.000456	T	0.73999	0.3659	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.74636	-0.3599	10	0.72032	D	0.01	-12.6565	8.953	0.35801	0.1933:0.0:0.8067:0.0	.	362;481	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	M	343;362;481;481;236;362;65	ENSP00000434050:L343M;ENSP00000437049:L362M;ENSP00000433214:L481M;ENSP00000337972:L481M;ENSP00000435196:L236M;ENSP00000365459:L362M;ENSP00000435728:L65M	ENSP00000337972:L481M	L	-	1	2	GDPD5	74829888	1.000000	0.71417	0.818000	0.32626	0.859000	0.49053	5.852000	0.69488	0.684000	0.31448	0.645000	0.84053	CTG	GDPD5	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.642	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD5	HGNC	protein_coding	OTTHUMT00000384409.1	G	NM_030792		75152240	-1	no_errors	ENST00000336898	ensembl	human	known	70_37	missense	SNP	0.991	T	T	75152240	G	T	75152240	3	4	173	1	0	0	0	0	1	0	0	0	6346	991	35	4	392	4	GDPD5	11	75152240	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	2729759	75152240	59854276	103	32710										
ALG8	79053	genome.wustl.edu	37	chr11	77850611	77850611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gaaaaccaattgccagtaccCgtggcaattgtgagcgccgc	11	12	0	1	rs574242484		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:77850611C>T	ENST00000299626.5	-	1	95	c.24G>A	c.(22-24)acG>acA	p.T8T	KCTD21-AS1_ENST00000532831.1_RNA|ALG8_ENST00000532552.2_5'UTR|ALG8_ENST00000376156.3_Silent_p.T8T|KCTD21-AS1_ENST00000500113.1_RNA|KCTD21-AS1_ENST00000527321.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000530261.1_RNA	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	8					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TGCCAGTACCCGTGGCAATTG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		16726	0		0	False		,,,				2504	0																0													25	19	21					11																	77850611		2182	4247	6429	SO:0001819	synonymous_variant	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	608103	"asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.24G>A	11.37:g.77850611C>T			A6NDW6|O60860	Silent	SNP	pfam_Glyco_trans_ALG6/ALG8	p.T8	ENST00000299626.5	37	c.24	CCDS8258.1	11																																																																																			ALG8	-	NULL		0.607	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	C	NM_024079		77850611	-1	no_errors	ENST00000299626	ensembl	human	known	70_37	silent	SNP	0.000	T	T	77850611	C	T	77850611	2	4	173	1	0	0	0	0	0	0	0	1	523	639	23	2		2	ALG8	11	77850611	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	2698371	77850611	57155905	104	32711										
TYR	7299	genome.wustl.edu	37	chr11	88911318	88911318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tctgtccaatgcaccacttgGgcctcaatttcccttcacag	6	15	3	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:88911318G>A	ENST00000263321.5	+	1	699	c.197G>A	c.(196-198)gGg>gAg	p.G66E	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	66					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GCACCACTTGGGCCTCAATTT	0.547																																																	0													58	47	51					11																	88911318		2201	4299	6500	SO:0001583	missense	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.197G>A	11.37:g.88911318G>A	ENSP00000263321:p.Gly66Glu		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.G66E	ENST00000263321.5	37	c.197	CCDS8284.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699885	0.88924	.	.	ENSG00000077498	ENST00000263321	D	0.99121	-5.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99164	1.0862	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	66	P14679	TYRO_HUMAN	E	66	ENSP00000263321:G66E	.	G	+	2	0	TYR	88550966	1.000000	0.71417	0.982000	0.44146	0.849000	0.48306	9.357000	0.97099	2.885000	0.99019	0.655000	0.94253	GGG	TYR	-	NULL		0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	G	NM_000372		88911318	1	no_errors	ENST00000263321	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88911318	G	A	88911318	3	1	173	1	0	0	0	0	1	0	0	0	16844	1232	43	4	199	4	TYR	11	88911318	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	11060707	88911318	46095198	105	32712										
CEP164	22897	genome.wustl.edu	37	chr11	117266344	117266344	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agtcaaaccagcagctccgaGaaattcttgatgagctgcag	10	10	2	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr11:117266344G>T	ENST00000278935.3	+	24	3142	c.2995G>T	c.(2995-2997)Gaa>Taa	p.E999*	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	999					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E999*(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCAGCTCCGAGAAATTCTTGA	0.572																																																	1	Substitution - Nonsense(1)	large_intestine(1)											55	55	55					11																	117266344		2201	4296	6497	SO:0001587	stop_gained	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2995G>T	11.37:g.117266344G>T	ENSP00000278935:p.Glu999*		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Nonsense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E999*	ENST00000278935.3	37	c.2995	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172919	0.78452	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	.	.	.	5.02	-0.501	0.12008	.	0.546940	0.16786	N	0.199593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-0.4816	6.0327	0.19688	0.5435:0.2956:0.1609:0.0	.	.	.	.	X	999;973	.	ENSP00000278935:E999X	E	+	1	0	CEP164	116771554	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.006000	0.12833	0.282000	0.22254	-0.458000	0.05436	GAA	CEP164	-	NULL		0.572	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	G	NM_014956		117266344	1	no_errors	ENST00000278935	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	117266344	G	T	117266344	4	4	173	1	0	0	0	0	0	1	0	0	3254	943	33	3	3081	3	CEP164	11	117266344	Nonsense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	28355026	117266344	17740172	106	32713										
FBXL14	144699	genome.wustl.edu	37	chr12	1702314	1702314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gcagagggagagagacttgaGgccatccagcccctgggcta	15	11	0	4			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:1702314G>A	ENST00000339235.3	-	1	1017	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	307					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			AGAGACTTGAGGCCATCCAGC	0.602																																																	0													97	79	85					12																	1702314		2203	4300	6503	SO:0001583	missense	144699			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.919C>T	12.37:g.1702314G>A	ENSP00000344855:p.Leu307Phe			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.L307F	ENST00000339235.3	37	c.919	CCDS8509.1	12	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811405	0.70797	.	.	ENSG00000171823	ENST00000339235	T	0.80214	-1.35	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000003	D	0.92990	0.7769	H	0.97962	4.115	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.94691	0.7874	10	0.87932	D	0	.	12.5779	0.56373	0.0797:0.0:0.9203:0.0	.	307	Q8N1E6	FXL14_HUMAN	F	307	ENSP00000344855:L307F	ENSP00000344855:L307F	L	-	1	0	FBXL14	1572575	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.714000	0.84703	2.495000	0.84180	0.650000	0.86243	CTC	FBXL14	-	pfam_Leu-rich_rpt_2,smart_Leu-rich_rpt_Cys-con_subtyp		0.602	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL14	HGNC	protein_coding	OTTHUMT00000206741.1	G	NM_152441		1702314	-1	no_errors	ENST00000339235	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1702314	G	A	1702314	3	1	173	1	0	0	0	0	1	0	0	0	5728	1000	35	4	345	4	FBXL14	12	1702314	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		1702314	132149581	107	32714										
A2ML1	144568	genome.wustl.edu	37	chr12	9013793	9013793	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gccacctccacgaccaacctCtacacacaggccctgttggc	7	19	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:9013793C>T	ENST00000299698.7	+	28	3582	c.3402C>T	c.(3400-3402)ctC>ctT	p.L1134L	A2ML1_ENST00000539547.1_Silent_p.L643L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGACCAACCTCTACACACAGG	0.458																																																	0													149	149	149					12																	9013793		1950	4145	6095	SO:0001819	synonymous_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3402C>T	12.37:g.9013793C>T				Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L1134	ENST00000299698.7	37	c.3402	CCDS8596.2	12																																																																																			A2ML1	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.458	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	C	NM_144670		9013793	1	no_errors	ENST00000299698	ensembl	human	known	70_37	silent	SNP	0.206	T	T	9013793	C	T	9013793	2	4	173	1	0	0	0	0	0	0	0	1	5	900	32	1		1	A2ML1	12	9013793	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	7311479	9013793	124838102	108	32715										
TAS2R43	259289	genome.wustl.edu	37	chr12	11244102	11244102	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aactgatatcattatggacaGaaagtaaatggcacataaca	7	6	1	2	rs199943442		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:11244102G>A	ENST00000531678.1	-	1	810	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	243					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		ATTATGGACAGAAAGTAAATG	0.418																																																	0													137	116	123					12																	11244102		2131	4144	6275	SO:0001819	synonymous_variant	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.727C>T	12.37:g.11244102G>A			P59546|Q645X4	Silent	SNP	pfam_TAS2_rcpt	p.L243	ENST00000531678.1	37	c.727	CCDS53749.1	12																																																																																			TAS2R43	-	pfam_TAS2_rcpt		0.418	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	G	NM_176884		11244102	-1	no_errors	ENST00000531678	ensembl	human	known	70_37	silent	SNP	0.000	A	A	11244102	G	A	11244102	2	1	173	1	0	0	0	0	0	0	0	1	15611	933	33	1		1	TAS2R43	12	11244102	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	2230309	11244102	122607793	109	32716										
RERG	85004	genome.wustl.edu	37	chr12	15262451	15262451	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctccctctgaatggtatcttCctgttggcaaagaaaaatgg	9	9	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:15262451C>T	ENST00000256953.2	-	5	529	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	RERG_ENST00000536465.1_Splice_Site_p.E65K|RERG_ENST00000546331.1_Splice_Site_p.E46K|RERG_ENST00000538313.1_Splice_Site_p.E65K|RERG-IT1_ENST00000539734.1_RNA	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	65					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGGTATCTTCCTGTTGGCAA	0.443																																																	0													189	202	197					12																	15262451		2203	4300	6503	SO:0001630	splice_region_variant	85004			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.193-1G>A	12.37:g.15262451C>T			B2R9R0|B4DI02	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E65K	ENST00000256953.2	37	c.193	CCDS8673.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375927	0.82682	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331;ENST00000545567	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.046236	0.85682	D	0.000000	D	0.92825	0.7718	M	0.93197	3.39	0.80722	D	1	D;D	0.59357	0.985;0.97	P;P	0.62813	0.907;0.877	D	0.94618	0.7810	10	0.87932	D	0	.	17.2457	0.87027	0.0:1.0:0.0:0.0	.	46;65	B4DI02;Q96A58	.;RERG_HUMAN	K	65;65;65;46;78	ENSP00000256953:E65K;ENSP00000441505:E65K;ENSP00000438280:E65K;ENSP00000444485:E46K;ENSP00000439532:E78K	ENSP00000256953:E65K	E	-	1	0	RERG	15153718	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.771000	0.85420	2.489000	0.83994	0.655000	0.94253	GAA	RERG	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.443	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERG	HGNC	protein_coding	OTTHUMT00000400882.1	C	NM_032918	Missense_Mutation	15262451	-1	no_errors	ENST00000256953	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15262451	C	T	15262451	5	4	173	1	0	0	0	0	0	0	1	0	13262	869	30	1	410	1	RERG	12	15262451	Splice_Site	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	4018349	15262451	118589444	110	32717										
ACVRL1	94	genome.wustl.edu	37	chr12	52309927	52309927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aggtgctggacgagcagatcCgcacggactgctttgagtcc	14	11	0	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:52309927C>T	ENST00000388922.4	+	8	1439	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	ACVRL1_ENST00000550683.1_Missense_Mutation_p.R400C|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R212C	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CGAGCAGATCCGCACGGACTG	0.607																																																	0													103	87	92					12																	52309927		2203	4300	6503	SO:0001583	missense	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1156C>T	12.37:g.52309927C>T	ENSP00000373574:p.Arg386Cys		A6NGA8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.R400C	ENST00000388922.4	37	c.1198	CCDS31804.1	12	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162791	0.57368	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93712	-3.27;-3.27;-3.27	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000370	D	0.95230	0.8453	L	0.48260	1.515	0.80722	D	1	B;D	0.76494	0.042;0.999	B;D	0.67725	0.036;0.953	D	0.95541	0.8612	10	0.87932	D	0	.	18.4442	0.90678	0.0:1.0:0.0:0.0	.	212;386	E7EN07;P37023	.;ACVL1_HUMAN	C	386;386;400;212;212	ENSP00000373574:R386C;ENSP00000447884:R400C;ENSP00000392492:R212C	ENSP00000267008:R386C	R	+	1	0	ACVRL1	50596194	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	5.906000	0.69900	2.763000	0.94921	0.563000	0.77884	CGC	ACVRL1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.607	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVRL1	HGNC	protein_coding	OTTHUMT00000404520.2	C			52309927	1	no_errors	ENST00000550683	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52309927	C	T	52309927	3	4	173	1	0	0	0	0	1	0	0	0	225	652	23	2	1182	2	ACVRL1	12	52309927	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	37047476	52309927	81541968	111	32718										
SOAT2	8435	genome.wustl.edu	37	chr12	53509917	53509917	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aaagctactccttcctgagaGaggctgtgcctgggaccctt	11	12	0	2	rs141707834		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:53509917G>A	ENST00000301466.3	+	7	805	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	249					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	CTTCCTGAGAGAGGCTGTGCC	0.532																																																	0								G	LYS/GLU	0,4406		0,0,2203	160	141	148		745	5	1	12	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	missense	SOAT2	NM_003578.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	249/523	53509917	1,13005	2203	4300	6503	SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.745G>A	12.37:g.53509917G>A	ENSP00000301466:p.Glu249Lys		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	pfam_MBOAT_fam	p.E249K	ENST00000301466.3	37	c.745	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.709377	0.96821	0.0	1.16E-4	ENSG00000167780	ENST00000301466	T	0.16196	2.36	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.46247	-0.9205	10	0.49607	T	0.09	-24.287	17.8548	0.88759	0.0:0.0:1.0:0.0	.	249	O75908	SOAT2_HUMAN	K	249	ENSP00000301466:E249K	ENSP00000301466:E249K	E	+	1	0	SOAT2	51796184	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.889000	0.92470	2.682000	0.91365	0.655000	0.94253	GAG	SOAT2	-	pfam_MBOAT_fam		0.532	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	G			53509917	1	no_errors	ENST00000301466	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53509917	G	A	53509917	3	1	173	1	0	0	0	0	1	0	0	0	14941	943	33	1	771	1	SOAT2	12	53509917	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	1199990	53509917	80341978	112	32719										
EIF2B1	1967	genome.wustl.edu	37	chr12	124111692	124111692	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	accactctggagtaggcgtgAgtcaatattgtctgtggacc	12	9	3	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:124111692A>T	ENST00000424014.2	-	5	589	c.381T>A	c.(379-381)acT>acA	p.T127T	EIF2B1_ENST00000537073.1_Silent_p.T127T|EIF2B1_ENST00000539951.1_Silent_p.T114T	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	127					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTAGGCGTGAGTCAATATTG	0.552																																																	0													110	94	100					12																	124111692		2203	4300	6503	SO:0001819	synonymous_variant	1967			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.381T>A	12.37:g.124111692A>T			A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	pfam_IF-2B-related	p.T127	ENST00000424014.2	37	c.381	CCDS31924.1	12																																																																																			EIF2B1	-	pfam_IF-2B-related		0.552	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1	A	NM_001414		124111692	-1	no_errors	ENST00000424014	ensembl	human	known	70_37	silent	SNP	0.980	T	T	124111692	A	T	124111692	2	4	173	1	0	0	0	0	0	0	0	1	5010	291	11	5		5	EIF2B1	12	124111692	Silent	SNP	A	TCGA-LP-A7HU-01A-11D-A33O-09	70601775	124111692	9740203	113	32720										
AACS	65985	genome.wustl.edu	37	chr12	125591715	125591715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggcaccagtgagcaggccccGcagctggagttcgagcagct	15	13	0	1	rs145117680		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:125591715G>A	ENST00000316519.6	+	8	1022	c.816G>A	c.(814-816)ccG>ccA	p.P272P	AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Silent_p.P272P	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	272					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGCAGGCCCCGCAGCTGGAGT	0.607																																																	0								A		4,4402	825.9+/-416.6	0,4,2199	79	71	74		816	-10.9	0	12	dbSNP_134	74	1,8599	819.0+/-406.8	0,1,4299	no	coding-synonymous	AACS	NM_023928.3		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		272/673	125591715	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.816G>A	12.37:g.125591715G>A			Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth	p.P272	ENST00000316519.6	37	c.816	CCDS9263.1	12																																																																																			AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth		0.607	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	G	NM_023928		125591715	1	no_errors	ENST00000316519	ensembl	human	known	70_37	silent	SNP	0.002	A	A	125591715	G	A	125591715	2	1	173	1	0	0	0	0	0	0	0	1	9	1074	38	2		2	AACS	12	125591715	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	1480023	125591715	8260180	114	32721										
SFRS8	6433	genome.wustl.edu	37	chr12	132211567	132211567	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccctctctctttgcctccaaGaagtgtaaccgccttgaaga	7	14	2	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr12:132211567G>A	ENST00000261674.4	+	6	1056	c.915G>A	c.(913-915)aaG>aaA	p.K305K	SFSWAP_ENST00000541286.1_Silent_p.K305K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	305					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TTGCCTCCAAGAAGTGTAACC	0.368																																																	0													127	121	123					12																	132211567		2203	4300	6503	SO:0001819	synonymous_variant	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.915G>A	12.37:g.132211567G>A			B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.K305	ENST00000261674.4	37	c.915	CCDS9273.1	12																																																																																			SFSWAP	-	NULL		0.368	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132211567	1	no_errors	ENST00000261674	ensembl	human	known	70_37	silent	SNP	1.000	A	A	132211567	G	A	132211567	2	1	173	1	0	0	0	0	0	0	0	1	14213	933	33	1		1	SFRS8	12	132211567	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	6619852	132211567	1640328	115	32722										
ATP8A2	51761	genome.wustl.edu	37	chr13	26145785	26145785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aaaggagctaaaaagctgggCtttgtcttcacagccagaac	10	9	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr13:26145785C>T	ENST00000381655.2	+	18	1759	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	ATP8A2_ENST00000255283.8_Silent_p.G499G|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	499					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AAAAGCTGGGCTTTGTCTTCA	0.438																																																	0													124	121	122					13																	26145785		1958	4147	6105	SO:0001819	synonymous_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1617C>T	13.37:g.26145785C>T			Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G539	ENST00000381655.2	37	c.1617	CCDS41873.1	13																																																																																			ATP8A2	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.438	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	C	NM_016529		26145785	1	no_errors	ENST00000381655	ensembl	human	known	70_37	silent	SNP	1.000	T	T	26145785	C	T	26145785	2	4	173	1	0	0	0	0	0	0	0	1	1194	784	28	4		4	ATP8A2	13	26145785	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		26145785	89024093	116	32723										
FRY	10129	genome.wustl.edu	37	chr13	32785169	32785169	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	caaggcttccgcagcagcctCaggtaagaagagcaaccggg	13	12	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr13:32785169C>T	ENST00000380250.3	+	34	5085	c.4589C>T	c.(4588-4590)tCa>tTa	p.S1530L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1530						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAGCAGCCTCAGGTAAGAAG	0.532																																																	0													41	43	42					13																	32785169		1915	4140	6055	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4589C>T	13.37:g.32785169C>T	ENSP00000369600:p.Ser1530Leu		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1530L	ENST00000380250.3	37	c.4589	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817955	0.90790	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.26373	1.74	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.72118	2.19	0.80722	D	1	D	0.53151	0.958	P	0.62560	0.904	T	0.45542	-0.9254	10	0.51188	T	0.08	.	19.5366	0.95255	0.0:1.0:0.0:0.0	.	1530	Q5TBA9	FRY_HUMAN	L	1530;367	ENSP00000369600:S1530L	ENSP00000369600:S1530L	S	+	2	0	FRY	31683169	1.000000	0.71417	0.807000	0.32361	0.341000	0.28922	7.762000	0.85270	2.622000	0.88805	0.591000	0.81541	TCA	FRY	-	NULL		0.532	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32785169	1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	0.993	T	T	32785169	C	T	32785169	3	4	173	1	0	0	0	0	1	0	0	0	6081	838	29	1	4723	1	FRY	13	32785169	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	6639384	32785169	82384709	117	32724										
DIAPH3	81624	genome.wustl.edu	37	chr13	60686168	60686168	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	attttttcaaaaagttctaaGagttcattctctgacagtgg	7	6	4	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr13:60686168G>A	ENST00000400324.4	-	3	586	c.366C>T	c.(364-366)ctC>ctT	p.L122L	DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000267215.4_Silent_p.L122L|DIAPH3_ENST00000400330.1_Silent_p.L122L|DIAPH3_ENST00000400320.1_Silent_p.L111L|DIAPH3_ENST00000377908.2_Silent_p.L111L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	122	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAGTTCTAAGAGTTCATTCT	0.383																																																	0													120	113	115					13																	60686168		1825	4079	5904	SO:0001819	synonymous_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.366C>T	13.37:g.60686168G>A			A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L122	ENST00000400324.4	37	c.366	CCDS41898.1	13																																																																																			DIAPH3	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.383	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	G	NM_001042517		60686168	-1	no_errors	ENST00000400324	ensembl	human	known	70_37	silent	SNP	0.986	A	A	60686168	G	A	60686168	2	1	173	1	0	0	0	0	0	0	0	1	4530	929	33	1		1	DIAPH3	13	60686168	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	27900999	60686168	54483710	118	32725										
DZIP1	22873	genome.wustl.edu	37	chr13	96241408	96241408	+	Splice_Site	DEL	G	G	-													0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccatccctgtcaatactcacGtaatagttgaagactttctg					rs371249353		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr13:96241408delG	ENST00000376829.2	-	19	2878	c.2027delC	c.(2026-2028)acg>ag	p.T677fs	DZIP1_ENST00000347108.3_Splice_Site_p.T677fs|DZIP1_ENST00000361156.3_Splice_Site_p.T658fs|DZIP1_ENST00000361396.2_Splice_Site_p.T658fs	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	677					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATACTCACGTAATAGTTGA	0.303																																																	0													61	62	62					13																	96241408		2203	4300	6503	SO:0001630	splice_region_variant	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2027+1C>-	13.37:g.96241408delG			Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T676fs	ENST00000376829.2	37	c.2027	CCDS9478.1	13																																																																																			DZIP1	-	NULL		0.303	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	G	NM_014934	Frame_Shift_Del	96241408	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	frame_shift_del	DEL	0.606	-	-	96241408	G	-	96241408	8	5	173	1	0	1	0	1	0	0	1	0	4873	1159	40	0	596	0	DZIP1	13	96241408	Splice_Site	DEL	G	TCGA-LP-A7HU-01A-11D-A33O-09	35555240	96241408	18928470	119	32726										
NFATC4	4776	genome.wustl.edu	37	chr14	24838985	24838985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	atctctcccacgccggagccGccagcagcgctggaggacaa	12	16	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr14:24838985G>A	ENST00000250373.4	+	2	522	c.381G>A	c.(379-381)ccG>ccA	p.P127P	NFATC4_ENST00000424781.2_Silent_p.P140P|NFATC4_ENST00000554661.1_Silent_p.P57P|NFATC4_ENST00000557451.1_Silent_p.P57P|NFATC4_ENST00000555453.1_Silent_p.P115P|NFATC4_ENST00000422617.3_Silent_p.P115P|NFATC4_ENST00000554050.1_Silent_p.P127P|NFATC4_ENST00000554344.1_Silent_p.P57P|NFATC4_ENST00000554966.1_Silent_p.P140P|NFATC4_ENST00000539237.2_Silent_p.P159P|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553708.1_Silent_p.P127P|NFATC4_ENST00000554591.1_Silent_p.P190P|NFATC4_ENST00000413692.2_Silent_p.P190P|NFATC4_ENST00000556279.1_Silent_p.P159P|NFATC4_ENST00000553879.1_Silent_p.P57P|NFATC4_ENST00000553469.1_Silent_p.P159P|NFATC4_ENST00000556169.1_Silent_p.P115P|NFATC4_ENST00000555590.1_Silent_p.P140P	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	127	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGCCGGAGCCGCCAGCAGCGC	0.677																																																	0													7	9	8					14																	24838985		2164	4230	6394	SO:0001819	synonymous_variant	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.381G>A	14.37:g.24838985G>A			B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P190	ENST00000250373.4	37	c.570	CCDS9629.1	14																																																																																			NFATC4	-	NULL		0.677	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	G	NM_004554		24838985	1	no_errors	ENST00000413692	ensembl	human	known	70_37	silent	SNP	0.763	A	A	24838985	G	A	24838985	2	1	173	1	0	0	0	0	0	0	0	1	10389	1074	38	2		2	NFATC4	14	24838985	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		24838985	82510555	120	32727										
PNN	5411	genome.wustl.edu	37	chr14	39650617	39650617	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agtagaggtcgagctagaaaTaaaacaagcaagagtagaag	12	4	0	4			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr14:39650617T>G	ENST00000216832.4	+	9	1771	c.1704T>G	c.(1702-1704)aaT>aaG	p.N568K	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	568	Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAGCTAGAAATAAAACAAGCA	0.448																																																	0													101	102	102					14																	39650617		2203	4300	6503	SO:0001583	missense	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1704T>G	14.37:g.39650617T>G	ENSP00000216832:p.Asn568Lys		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.N568K	ENST00000216832.4	37	c.1704	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	T	11.79	1.744508	0.30865	.	.	ENSG00000100941	ENST00000216832	T	0.51325	0.71	6.16	5.04	0.67666	.	0.240771	0.49305	D	0.000146	T	0.43322	0.1242	L	0.53729	1.69	0.80722	D	1	D	0.53151	0.958	P	0.47528	0.549	T	0.45425	-0.9262	10	0.41790	T	0.15	-19.095	3.5276	0.07765	0.0:0.2969:0.0:0.7031	.	568	Q9H307	PININ_HUMAN	K	568	ENSP00000216832:N568K	ENSP00000216832:N568K	N	+	3	2	PNN	38720368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.449000	0.44935	2.367000	0.80283	0.528000	0.53228	AAT	PNN	-	NULL		0.448	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2	T	NM_002687		39650617	1	no_errors	ENST00000216832	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39650617	T	G	39650617	3	3	173	1	0	0	0	0	1	0	0	0	12184	1403	49	5	1738	5	PNN	14	39650617	Missense_Mutation	SNP	T	TCGA-LP-A7HU-01A-11D-A33O-09	14811632	39650617	67698923	121	32728										
DICER1	23405	genome.wustl.edu	37	chr14	95590580	95590580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctttccacaaaaataattccGcacaaaatgttggtaaaagg	6	8	0	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr14:95590580G>A	ENST00000526495.1	-	10	1620	c.1329C>T	c.(1327-1329)tgC>tgT	p.C443C	DICER1_ENST00000527414.1_Silent_p.C443C|DICER1_ENST00000343455.3_Silent_p.C443C|DICER1_ENST00000541352.1_Silent_p.C443C|DICER1_ENST00000393063.1_Silent_p.C443C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	443	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAATAATTCCGCACAAAATGT	0.388			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													73	78	76					14																	95590580		2202	4300	6502	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1329C>T	14.37:g.95590580G>A			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.C443	ENST00000526495.1	37	c.1329	CCDS9931.1	14																																																																																			DICER1	-	pfscan_Helicase_C		0.388	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	G			95590580	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	silent	SNP	0.992	A	A	95590580	G	A	95590580	2	1	173	1	0	0	0	0	0	0	0	1	4531	1079	38	2		2	DICER1	14	95590580	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	55939963	95590580	11758960	122	32729										
BAG5	9529	genome.wustl.edu	37	chr14	104027364	104027365	+	Frame_Shift_Ins	INS	-	-	AG													0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tttcaaaaagctgttttgttINSagaatcctctccagtttctt							TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr14:104027364_104027365insAG	ENST00000445922.2	-	2	383_384	c.137_138insCT	c.(136-138)ctafs	p.L46fs	APOPT1_ENST00000409074.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_Frame_Shift_Ins_p.L46fs|BAG5_ENST00000337322.4_Frame_Shift_Ins_p.L87fs|APOPT1_ENST00000247618.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	46	BAG 1. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GCTGTTTTGTTAGAATCCTCTC	0.411																																					NSCLC(171;1832 2055 18950 31566 41632)												0																																										SO:0001589	frameshift_variant	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.136_137dupCT	14.37:g.104027365_104027366dupAG	ENSP00000391713:p.Leu46fs		O94950|Q86W59	Frame_Shift_Ins	INS	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.T88fs	ENST00000445922.2	37	c.261_260	CCDS9982.1	14																																																																																			BAG5	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain		0.411	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	HGNC	protein_coding	OTTHUMT00000414990.1	-			104027365	-1	no_errors	ENST00000337322	ensembl	human	known	70_37	frame_shift_ins	INS	0.036:0.417	AG	AG	104027365	-	AG	104027364	7	5	173	1	0	1	1	0	0	0	0	0	1291	1741	61	0	1209	0	BAG5	14	104027364	Frame_Shift_Ins	INS	-	TCGA-LP-A7HU-01A-11D-A33O-09	8436784	104027364	3322176	123	32730										
OR4M2	390538	genome.wustl.edu	37	chr15	22368878	22368878	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gatggatgcattgcacagctCttcttcttacactttgctgg	9	10	3	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:22368878C>G	ENST00000332663.2	+	1	401	c.303C>G	c.(301-303)ctC>ctG	p.L101L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTGCACAGCTCTTCTTCTTAC	0.458																																																	0													305	256	273					15																	22368878		2203	4300	6503	SO:0001819	synonymous_variant	390538			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.303C>G	15.37:g.22368878C>G			B9EH16|Q6IEY2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L101	ENST00000332663.2	37	c.303	CCDS32172.1	15																																																																																			OR4M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1	C			22368878	1	no_errors	ENST00000332663	ensembl	human	known	70_37	silent	SNP	0.541	G	G	22368878	C	G	22368878	2	3	173	1	0	0	0	0	0	0	0	1	11100	900	32	1		1	OR4M2	15	22368878	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		22368878	80162514	124	32731										
ATP10A	57194	genome.wustl.edu	37	chr15	26107970	26107970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gttgagcagcgcgatgaagaCaaagtacacgttggccgggc	15	9	0	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:26107970C>T	ENST00000356865.6	-	1	385	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	RP11-2C7.1_ENST00000557558.1_lincRNA|ATP10A_ENST00000553577.1_5'Flank	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	92					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCGATGAAGACAAAGTACACG	0.627																																																	0													76	55	62					15																	26107970		2203	4299	6502	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.274G>A	15.37:g.26107970C>T	ENSP00000349325:p.Val92Ile		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.V92I	ENST00000356865.6	37	c.274	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563042	0.65538	.	.	ENSG00000206190	ENST00000356865	T	0.54071	0.59	4.03	4.03	0.46877	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	T	0.43055	0.1230	L	0.39245	1.2	0.54753	D	0.999986	B	0.33212	0.402	B	0.29942	0.109	T	0.41016	-0.9532	10	0.33141	T	0.24	-30.1089	15.3871	0.74708	0.0:1.0:0.0:0.0	.	92	O60312	AT10A_HUMAN	I	92	ENSP00000349325:V92I	ENSP00000349325:V92I	V	-	1	0	ATP10A	23659063	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.213000	0.77950	2.098000	0.63641	0.456000	0.33151	GTC	ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl		0.627	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	C	NM_024490		26107970	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26107970	C	T	26107970	3	4	173	1	0	0	0	0	1	0	0	0	1117	478	17	4	4309	4	ATP10A	15	26107970	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	3739092	26107970	76423422	125	32732										
CHRNA7	1139	genome.wustl.edu	37	chr15	32460293	32460293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gcgccgccgcccgccagcaaCgggaacctgctgtacatcgg	13	17	0	0	rs542404300	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:32460293C>T	ENST00000306901.3	+	10	1240	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	CHRNA7_ENST00000454250.3_Silent_p.N410N|CHRNA7_ENST00000455693.2_Silent_p.N200N	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	381					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCGCCAGCAACGGGAACCTGC	0.721													C|||	2	0.000399361	0	0.0029	5008	,	,		18059	0		0	False		,,,				2504	0				Esophageal Squamous(193;529 2900 40232 43193)												0													13	19	17					15																	32460293		2132	4231	6363	SO:0001819	synonymous_variant	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1143C>T	15.37:g.32460293C>T			A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.N410	ENST00000306901.3	37	c.1230	CCDS10027.1	15																																																																																			CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.721	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	C			32460293	1	no_errors	ENST00000454250	ensembl	human	known	70_37	silent	SNP	0.569	T	T	32460293	C	T	32460293	2	4	173	1	0	0	0	0	0	0	0	1	3393	535	19	2		2	CHRNA7	15	32460293	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	6352323	32460293	70071099	126	32733										
EHD4	30844	genome.wustl.edu	37	chr15	42192914	42192914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gggcaggctgctgggcagctCgtagccgtcgagcttgatct	16	11	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:42192914C>T	ENST00000220325.4	-	6	1638	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	519	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CTGGGCAGCTCGTAGCCGTCG	0.652																																																	0													35	32	33					15																	42192914		2203	4299	6502	SO:0001583	missense	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1555G>A	15.37:g.42192914C>T	ENSP00000220325:p.Glu519Lys		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.E519K	ENST00000220325.4	37	c.1555	CCDS10081.1	15	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999040	0.93227	.	.	ENSG00000103966	ENST00000220325	T	0.29917	1.55	4.83	4.83	0.62350	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	D	0.63793	0.918	T	0.56147	-0.8027	10	0.56958	D	0.05	-36.8485	18.2861	0.90114	0.0:1.0:0.0:0.0	.	519	Q9H223	EHD4_HUMAN	K	519	ENSP00000220325:E519K	ENSP00000220325:E519K	E	-	1	0	EHD4	39980206	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	7.759000	0.85235	2.394000	0.81467	0.543000	0.68304	GAG	EHD4	-	smart_EPS15_homology,pfscan_EPS15_homology		0.652	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	C	NM_139265		42192914	-1	no_errors	ENST00000220325	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42192914	C	T	42192914	3	4	173	1	0	0	0	0	1	0	0	0	4990	893	31	1	74	1	EHD4	15	42192914	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	9732621	42192914	60338478	127	32734										
PLA2G4F	255189	genome.wustl.edu	37	chr15	42442920	42442920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tctgtgggaggctgcaggggCaagagctgtggcttctcgta	17	8	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:42442920C>T	ENST00000382396.4	-	8	743	c.657G>A	c.(655-657)ttG>ttA	p.L219L	PLA2G4F_ENST00000397272.3_Silent_p.L219L			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	219					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTGCAGGGGCAAGAGCTGTG	0.652																																																	0													45	44	44					15																	42442920		2203	4299	6502	SO:0001819	synonymous_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.657G>A	15.37:g.42442920C>T			Q6ZMC8	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.L219	ENST00000382396.4	37	c.657	CCDS32204.1	15																																																																																			PLA2G4F	-	NULL		0.652	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	C	NM_213600		42442920	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	silent	SNP	0.593	T	T	42442920	C	T	42442920	2	4	173	1	0	0	0	0	0	0	0	1	12030	709	25	4		4	PLA2G4F	15	42442920	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	250006	42442920	60088472	128	32735										
CAPN3	825	genome.wustl.edu	37	chr15	42678418	42678418	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tgaccctgaaccagcaccttCttttccgagtcataccccat	5	16	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:42678418C>T	ENST00000397163.3	+	3	652	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.L58F|CAPN3_ENST00000318023.7_Missense_Mutation_p.L145F|CAPN3_ENST00000357568.3_Missense_Mutation_p.L145F|CAPN3_ENST00000349748.3_Missense_Mutation_p.L145F	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	145	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCACCTTCTTTTCCGAGT	0.542											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													121	99	106					15																	42678418		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.433C>T	15.37:g.42678418C>T	ENSP00000380349:p.Leu145Phe	910	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L145F	ENST00000397163.3	37	c.433	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.550951	0.96501	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	6.07	6.07	0.98685	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.64402	U	0.000002	D	0.94331	0.8178	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.93451	0.6802	10	0.52906	T	0.07	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	58;58;145;145;145;58	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	F	58;145;145;145;145	ENSP00000348667:L58F;ENSP00000380349:L145F;ENSP00000350181:L145F;ENSP00000183936:L145F;ENSP00000326281:L145F	ENSP00000326281:L145F	L	+	1	0	CAPN3	40465710	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.763000	0.85283	2.890000	0.99128	0.650000	0.86243	CTT	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.542	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	C			42678418	1	no_errors	ENST00000397163	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42678418	C	T	42678418	3	4	173	1	0	0	0	0	1	0	0	0	2633	913	32	1	495	1	CAPN3	15	42678418	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	235498	42678418	59852974	129	32736										
DMXL2	23312	genome.wustl.edu	37	chr15	51857317	51857317	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	atgctaagttgtatgtcacaGaactcaaaaaaaactgccca	6	9	2	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:51857317G>A	ENST00000251076.5	-	4	619	c.332C>T	c.(331-333)tCt>tTt	p.S111F	DMXL2_ENST00000543779.2_Missense_Mutation_p.S111F|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Missense_Mutation_p.S111F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	111						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTATGTCACAGAACTCAAAAA	0.274																																																	0													34	34	34					15																	51857317		2195	4292	6487	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.332C>T	15.37:g.51857317G>A	ENSP00000251076:p.Ser111Phe		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S111F	ENST00000251076.5	37	c.332	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273224	0.80580	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.12672	2.66;2.66;2.66	4.9	4.9	0.64082	WD40 repeat-like-containing domain (1);	0.115720	0.64402	D	0.000013	T	0.27524	0.0676	L	0.52364	1.645	0.28413	N	0.918098	P;B;P	0.39391	0.671;0.265;0.542	P;B;B	0.51079	0.658;0.268;0.379	T	0.02539	-1.1144	10	0.56958	D	0.05	.	18.4421	0.90670	0.0:0.0:1.0:0.0	.	111;111;111	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	F	111	ENSP00000251076:S111F;ENSP00000441858:S111F;ENSP00000400855:S111F	ENSP00000251076:S111F	S	-	2	0	DMXL2	49644609	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.091000	0.89528	2.419000	0.82065	0.655000	0.94253	TCT	DMXL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.274	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51857317	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	A	A	51857317	G	A	51857317	3	1	173	1	0	0	0	0	1	0	0	0	4605	942	33	1	8941	1	DMXL2	15	51857317	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	9178899	51857317	50674075	130	32737										
LEO1	123169	genome.wustl.edu	37	chr15	52252223	52252223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctcctcttcctgttgatcctGaggcaatccattttcatcct	5	14	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:52252223G>C	ENST00000299601.5	-	5	1093	c.1033C>G	c.(1033-1035)Cag>Gag	p.Q345E	LEO1_ENST00000315141.5_Missense_Mutation_p.Q345E	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	345					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TGTTGATCCTGAGGCAATCCA	0.398																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													133	125	128					15																	52252223		2195	4293	6488	SO:0001583	missense	123169			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1033C>G	15.37:g.52252223G>C	ENSP00000299601:p.Gln345Glu		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.Q345E	ENST00000299601.5	37	c.1033	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	G	1.209	-0.630296	0.03610	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	4.81	3.86	0.44501	.	0.179079	0.50627	D	0.000120	T	0.23846	0.0577	N	0.02539	-0.55	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.24548	-1.0157	9	0.02654	T	1	.	14.4404	0.67311	0.0:0.2803:0.7197:0.0	.	345;345	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	E	345;323;345	.	ENSP00000299601:Q345E	Q	-	1	0	LEO1	50039515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.581000	0.53914	1.120000	0.41904	0.644000	0.83932	CAG	LEO1	-	NULL		0.398	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	G	NM_138792		52252223	-1	no_errors	ENST00000299601	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52252223	G	C	52252223	3	2	173	1	0	0	0	0	1	0	0	0	8746	1299	45	1	999	1	LEO1	15	52252223	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	394906	52252223	50279169	131	32738										
MCTP2	55784	genome.wustl.edu	37	chr15	94858857	94858857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gccggaacctggttgtccgaGatcgctgtggtaagacctgg	15	10	0	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr15:94858857G>A	ENST00000357742.4	+	3	628	c.628G>A	c.(628-630)Gat>Aat	p.D210N	MCTP2_ENST00000543482.1_Missense_Mutation_p.D210N|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.D210N	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	210	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTTGTCCGAGATCGCTGTGG	0.527																																																	0													164	139	147					15																	94858857		2197	4298	6495	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.628G>A	15.37:g.94858857G>A	ENSP00000350377:p.Asp210Asn		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.D210N	ENST00000357742.4	37	c.628	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915093	0.73098	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.74526	-0.85;-0.85;-0.85	6.07	6.07	0.98685	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.89636	0.6772	M	0.92317	3.295	0.58432	D	0.999994	P;D;D;P;D	0.76494	0.909;0.999;0.997;0.926;0.991	P;D;D;P;P	0.76575	0.61;0.988;0.95;0.73;0.902	D	0.91235	0.5017	10	0.87932	D	0	.	17.5607	0.87906	0.0:0.0:1.0:0.0	.	210;210;210;210;210	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	N	210	ENSP00000438521:D210N;ENSP00000395109:D210N;ENSP00000350377:D210N	ENSP00000350377:D210N	D	+	1	0	MCTP2	92659861	1.000000	0.71417	0.996000	0.52242	0.308000	0.27856	5.513000	0.67037	2.884000	0.98904	0.655000	0.94253	GAT	MCTP2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.527	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	G	NM_018349		94858857	1	no_errors	ENST00000357742	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94858857	G	A	94858857	3	1	173	1	0	0	0	0	1	0	0	0	9424	942	33	1	638	1	MCTP2	15	94858857	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	42606634	94858857	7672535	132	32739										
MKL2	57496	genome.wustl.edu	37	chr16	14334201	14334201	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	caatacattccaccagatcaGaagggtgagaagaatgagcc	10	9	1	5			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr16:14334201G>C	ENST00000341243.5	+	8	906	c.906G>C	c.(904-906)caG>caC	p.Q302H	MKL2_ENST00000318282.5_Missense_Mutation_p.Q313H|MKL2_ENST00000574045.1_Missense_Mutation_p.Q313H|MKL2_ENST00000573051.1_Missense_Mutation_p.Q262H|MKL2_ENST00000571589.1_Missense_Mutation_p.Q313H|MKL2_ENST00000572567.1_Missense_Mutation_p.Q302H			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	302					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCAGATCAGAAGGGTGAGA	0.493																																																	0													98	93	95					16																	14334201		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.906G>C	16.37:g.14334201G>C	ENSP00000345841:p.Gln302His		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.Q302H	ENST00000341243.5	37	c.906		16	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293742	0.80914	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	.	.	.	5.78	4.81	0.61882	.	0.108718	0.64402	D	0.000004	T	0.79633	0.4479	M	0.82056	2.57	0.58432	D	0.999991	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	D;D;D;D	0.85130	0.997;0.996;0.995;0.996	T	0.82806	-0.0275	9	0.87932	D	0	-17.0133	14.294	0.66300	0.072:0.0:0.928:0.0	.	262;313;302;313	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	H	313;302;302	.	ENSP00000339086:Q313H	Q	+	3	2	MKL2	14241702	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	8.013000	0.88655	1.413000	0.46997	0.655000	0.94253	CAG	MKL2	-	NULL		0.493	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		G	NM_014048		14334201	1	no_errors	ENST00000341243	ensembl	human	known	70_37	missense	SNP	1.000	C	C	14334201	G	C	14334201	3	2	173	1	0	0	0	0	1	0	0	0	9625	933	33	1	969	1	MKL2	16	14334201	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		14334201	76020552	133	32740										
ZFHX3	463	genome.wustl.edu	37	chr16	72984827	72984827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tcctctgacaccagctgcccGcccccgagccgcatgtctag	9	19	2	1	rs141768802	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr16:72984827G>A	ENST00000268489.5	-	3	3429	c.2757C>T	c.(2755-2757)ggC>ggT	p.G919G	ZFHX3_ENST00000397992.5_Silent_p.G5G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	919					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCAGCTGCCCGCCCCCGAGCC	0.622																																																	0								G	,	1,4395	2.1+/-5.4	0,1,2197	49	47	48		15,2757	2	1	16	dbSNP_134	48	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	5/2790,919/3704	72984827	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2757C>T	16.37:g.72984827G>A			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.G919	ENST00000268489.5	37	c.2757	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72984827	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72984827	G	A	72984827	2	1	173	1	0	0	0	0	0	0	0	1	17664	1074	38	2		2	ZFHX3	16	72984827	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	58650626	72984827	17369926	134	32741										
CTRB2	440387	genome.wustl.edu	37	chr16	75238138	75238138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cagcgggcgtggtggtagagCaggtgcggctgccccaggac	19	11	0	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr16:75238138C>T	ENST00000303037.8	-	7	756	c.713G>A	c.(712-714)tGc>tAc	p.C238Y		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|large_intestine(1)|lung(2)	4						GGTGGTAGAGCAGGTGCGGCT	0.667																																																	0													89	79	83					16																	75238138		2198	4300	6498	SO:0001583	missense	440387			M24400, AK131056	CCDS32489.1	16q22.3	2007-10-22			ENSG00000168928	ENSG00000168928			2522	protein-coding gene	gene with protein product						2917002, 8186414	Standard	NM_001025200		Approved		uc002fdr.3	Q6GPI1	OTTHUMG00000159271	ENST00000303037.8:c.713G>A	16.37:g.75238138C>T	ENSP00000303963:p.Cys238Tyr		A8K707	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.C238Y	ENST00000303037.8	37	c.713	CCDS32489.1	16	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143216	0.77888	.	.	ENSG00000168928	ENST00000303037	D	0.91686	-2.89	4.33	4.33	0.51752	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	U	0.000000	D	0.94820	0.8327	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95556	0.8625	10	0.87932	D	0	.	16.809	0.85713	0.0:1.0:0.0:0.0	.	238	Q6GPI1	CTRB2_HUMAN	Y	238	ENSP00000303963:C238Y	ENSP00000303963:C238Y	C	-	2	0	CTRB2	73795639	1.000000	0.71417	0.906000	0.35671	0.685000	0.39939	7.608000	0.82898	2.141000	0.66446	0.436000	0.28706	TGC	CTRB2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.667	CTRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRB2	HGNC	protein_coding	OTTHUMT00000354298.2	C	NM_001025200		75238138	-1	no_errors	ENST00000303037	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75238138	C	T	75238138	3	4	173	1	0	0	0	0	1	0	0	0	4031	710	25	4	82	4	CTRB2	16	75238138	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	2253311	75238138	15116615	135	32742										
ARHGEF15	22899	genome.wustl.edu	37	chr17	8222400	8222400	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	caggttccggatccatctggAccccctaccttccgcctctc	7	19	2	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:8222400A>G	ENST00000361926.3	+	13	2219	c.2109A>G	c.(2107-2109)ggA>ggG	p.G703G	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Silent_p.G703G	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	703					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ATCCATCTGGACCCCCTACCT	0.607																																																	0													83	88	86					17																	8222400		2203	4300	6503	SO:0001819	synonymous_variant	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2109A>G	17.37:g.8222400A>G			A8K6G1|Q8N449|Q9H8B4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.G703	ENST00000361926.3	37	c.2109	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL		0.607	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	A	NM_173728		8222400	1	no_errors	ENST00000361926	ensembl	human	known	70_37	silent	SNP	0.942	G	G	8222400	A	G	8222400	2	3	173	1	0	0	0	0	0	0	0	1	898	262	10	5		5	ARHGEF15	17	8222400	Silent	SNP	A	TCGA-LP-A7HU-01A-11D-A33O-09		8222400	72972810	136	32743										
STX8	9482	genome.wustl.edu	37	chr17	9448547	9448547	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tgccagaagtagtctctctcGagttacaagatcatccaaga	8	10	3	3	rs550108459		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:9448547G>A	ENST00000306357.4	-	4	692	c.265C>T	c.(265-267)Cga>Tga	p.R89*	STX8_ENST00000574431.1_5'UTR|RP11-565F19.3_ENST00000574460.1_RNA	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	89					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						AGTCTCTCTCGAGTTACAAGA	0.428																																																	0													152	136	142					17																	9448547		2203	4300	6503	SO:0001587	stop_gained	9482			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.265C>T	17.37:g.9448547G>A	ENSP00000305255:p.Arg89*		O60712|Q53XT8	Nonsense_Mutation	SNP	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R89*	ENST00000306357.4	37	c.265	CCDS32565.1	17	.	.	.	.	.	.	.	.	.	.	G	38	7.282569	0.98186	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.97	4.99	0.66335	.	0.049288	0.85682	D	0.000000	.	.	.	.	.	.	0.40728	D	0.982725	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7197	10.9936	0.47563	0.0:0.1405:0.7136:0.1459	.	.	.	.	X	89	.	ENSP00000305255:R89X	R	-	1	2	STX8	9389272	0.886000	0.30341	0.939000	0.37840	0.997000	0.91878	2.785000	0.47782	1.499000	0.48617	0.655000	0.94253	CGA	STX8	-	NULL		0.428	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX8	HGNC	protein_coding	OTTHUMT00000439206.3	G	NM_004853		9448547	-1	no_errors	ENST00000306357	ensembl	human	known	70_37	nonsense	SNP	0.474	A	A	9448547	G	A	9448547	4	1	173	1	0	0	0	0	0	1	0	0	15381	1066	37	1	465	1	STX8	17	9448547	Nonsense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	1226147	9448547	71746663	137	32744										
NCOR1	9611	genome.wustl.edu	37	chr17	15964768	15964768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gttccctcgcatccttgtccGaggcaatttgccgggtgatg	12	12	0	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:15964768G>A	ENST00000268712.3	-	37	6085	c.5828C>T	c.(5827-5829)tCg>tTg	p.S1943L	NCOR1_ENST00000395857.3_Missense_Mutation_p.S527L|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1943	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATCCTTGTCCGAGGCAATTTG	0.458																																																	0													268	244	252					17																	15964768		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5828C>T	17.37:g.15964768G>A	ENSP00000268712:p.Ser1943Leu		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1943L	ENST00000268712.3	37	c.5828	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922108	0.73213	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.53857	0.6;0.6	5.87	5.87	0.94306	.	0.061410	0.64402	D	0.000002	T	0.62295	0.2416	M	0.66939	2.045	0.58432	D	0.999998	P;D;D;D	0.67145	0.951;0.988;0.996;0.968	B;B;P;P	0.53006	0.32;0.354;0.715;0.586	T	0.56105	-0.8034	10	0.12103	T	0.63	-3.9394	19.1914	0.93667	0.0:0.0:1.0:0.0	.	753;1847;1943;463	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	L	1943;1847;527	ENSP00000268712:S1943L;ENSP00000379198:S527L	ENSP00000268712:S1943L	S	-	2	0	NCOR1	15905493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.457000	0.80775	2.785000	0.95823	0.650000	0.86243	TCG	NCOR1	-	NULL		0.458	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	G	NM_006311		15964768	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15964768	G	A	15964768	3	1	173	1	0	0	0	0	1	0	0	0	10259	1059	37	1	1534	1	NCOR1	17	15964768	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	6516221	15964768	65230442	138	32745										
SLC13A2	9058	genome.wustl.edu	37	chr17	26820598	26820598	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tctgcctgcagcttccggaaGaactttggcattggggaaaa	12	9	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:26820598G>A	ENST00000314669.5	+	7	1308	c.888G>A	c.(886-888)aaG>aaA	p.K296K	SLC13A2_ENST00000537681.1_Silent_p.K225K|SLC13A2_ENST00000444914.3_Silent_p.K345K|SLC13A2_ENST00000545060.1_Silent_p.K253K	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	296					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.K296N(2)|p.K345N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCTTCCGGAAGAACTTTGGCA	0.617																																																	3	Substitution - Missense(3)	lung(2)|large_intestine(1)											37	35	36					17																	26820598		2203	4300	6503	SO:0001819	synonymous_variant	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.888G>A	17.37:g.26820598G>A			B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.K345	ENST00000314669.5	37	c.1035	CCDS11231.1	17																																																																																			SLC13A2	-	pfam_Na/sul_symport		0.617	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1	G	NM_003984		26820598	1	no_errors	ENST00000444914	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26820598	G	A	26820598	2	1	173	1	0	0	0	0	0	0	0	1	14422	933	33	1		1	SLC13A2	17	26820598	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	10855830	26820598	54374612	139	32746										
KIAA0100	9703	genome.wustl.edu	37	chr17	26962131	26962131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	actgataaggaaactccaccGagactgagccgaaagagagg	12	9	0	4	rs551778403		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:26962131G>A	ENST00000528896.2	-	16	2548	c.2474C>T	c.(2473-2475)tCg>tTg	p.S825L	KIAA0100_ENST00000544884.1_Missense_Mutation_p.S682L|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S682L|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	825						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAACTCCACCGAGACTGAGCC	0.547													G|||	1	0.000199681	0	0	5008	,	,		20077	0		0	False		,,,				2504	0.001																0													138	155	149					17																	26962131		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2474C>T	17.37:g.26962131G>A	ENSP00000436773:p.Ser825Leu		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.S825L	ENST00000528896.2	37	c.2474	CCDS32595.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702134|2.702134	0.48307|0.48307	.|.	.|.	ENSG00000007202|ENSG00000007202	ENST00000389003|ENST00000005905;ENST00000528896;ENST00000544884	.|T;T	.|0.23348	.|1.91;1.91	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.330318	.|0.33127	.|N	.|0.005243	.|T	.|0.25606	.|0.0623	L|L	0.56769|0.56769	1.78|1.78	0.36981|0.36981	D|D	0.894284|0.894284	.|B	.|0.28208	.|0.203	.|B	.|0.14023	.|0.01	.|T	.|0.09250	.|-1.0683	.|10	.|0.30078	.|T	.|0.28	.|.	14.4097|14.4097	0.67106|0.67106	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|825	.|Q14667	.|K0100_HUMAN	.|L	-1|825;825;682	.|ENSP00000436773:S825L;ENSP00000446443:S682L	.|ENSP00000005905:S825L	.|S	-|-	.|2	.|0	KIAA0100|KIAA0100	23986258|23986258	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	4.358000|4.358000	0.59442|0.59442	2.792000|2.792000	0.96026|0.96026	0.557000|0.557000	0.71058|0.71058	.|TCG	KIAA0100	-	NULL		0.547	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	G	NM_014680		26962131	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	0.633	A	A	26962131	G	A	26962131	3	1	173	1	0	0	0	0	1	0	0	0	8174	1059	37	1	4329	1	KIAA0100	17	26962131	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	141533	26962131	54233079	140	32747										
ATAD5	79915	genome.wustl.edu	37	chr17	29161432	29161432	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttctcaaatgtagagtttaaGaagaaaagaaagagggttaa	10	2	1	5			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:29161432G>A	ENST00000321990.4	+	2	711	c.333G>A	c.(331-333)aaG>aaA	p.K111K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	111					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAGTTTAAGAAGAAAAGAA	0.343																																																	0													82	93	89					17																	29161432		2202	4296	6498	SO:0001819	synonymous_variant	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.333G>A	17.37:g.29161432G>A			Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.K111	ENST00000321990.4	37	c.333	CCDS11260.1	17																																																																																			ATAD5	-	NULL		0.343	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29161432	1	no_errors	ENST00000321990	ensembl	human	known	70_37	silent	SNP	1.000	A	A	29161432	G	A	29161432	2	1	173	1	0	0	0	0	0	0	0	1	1077	933	33	1		1	ATAD5	17	29161432	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	2199301	29161432	52033778	141	32748			2	134		3	3	1105	G		2.188329e-05
ATAD5	79915	genome.wustl.edu	37	chr17	29162264	29162264	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttttggaagctggaagttctGaagctgtgaaaccaaaatgc	11	6	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:29162264G>A	ENST00000321990.4	+	2	1543	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	389					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGGAAGTTCTGAAGCTGTGAA	0.368																																																	0													61	66	64					17																	29162264		2203	4300	6503	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1165G>A	17.37:g.29162264G>A	ENSP00000313171:p.Glu389Lys		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E389K	ENST00000321990.4	37	c.1165	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944231	0.34283	.	.	ENSG00000176208	ENST00000321990	T	0.11821	2.74	5.91	5.91	0.95273	.	0.242690	0.36374	N	0.002635	T	0.26774	0.0655	M	0.61703	1.905	0.32348	N	0.558858	D;P	0.55385	0.971;0.877	P;B	0.53401	0.725;0.339	T	0.23904	-1.0175	10	0.72032	D	0.01	.	13.4885	0.61379	0.0711:0.0:0.9289:0.0	.	389;389	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	K	389	ENSP00000313171:E389K	ENSP00000313171:E389K	E	+	1	0	ATAD5	26186390	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.920000	0.63390	2.813000	0.96785	0.655000	0.94253	GAA	ATAD5	-	NULL		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29162264	1	no_errors	ENST00000321990	ensembl	human	known	70_37	missense	SNP	0.997	A	A	29162264	G	A	29162264	3	1	173	1	0	0	0	0	1	0	0	0	1077	1291	45	1	1171	1	ATAD5	17	29162264	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	832	29162264	52032946	142	32749			2	134		3	3	1105	G		2.188329e-05
ATAD5	79915	genome.wustl.edu	37	chr17	29162536	29162536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gagaaaaataaaaagctaaaGaagaagaataagaaaacatt	7	2	0	5	rs553876113	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:29162536G>C	ENST00000321990.4	+	2	1815	c.1437G>C	c.(1435-1437)aaG>aaC	p.K479N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	479					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAAGCTAAAGAAGAAGAATA	0.323																																																	0													42	50	47					17																	29162536		2200	4287	6487	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1437G>C	17.37:g.29162536G>C	ENSP00000313171:p.Lys479Asn		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.K479N	ENST00000321990.4	37	c.1437	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986461	0.02180	.	.	ENSG00000176208	ENST00000321990	T	0.10668	2.85	5.89	3.86	0.44501	.	0.440915	0.27210	N	0.020415	T	0.10078	0.0247	L	0.35414	1.06	0.25713	N	0.985465	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.002	T	0.20605	-1.0270	10	0.22706	T	0.39	.	16.0057	0.80362	0.0:0.0:0.7489:0.2511	.	479;479	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	N	479	ENSP00000313171:K479N	ENSP00000313171:K479N	K	+	3	2	ATAD5	26186662	1.000000	0.71417	0.968000	0.41197	0.019000	0.09904	1.622000	0.36997	0.361000	0.24292	-1.113000	0.02065	AAG	ATAD5	-	NULL		0.323	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29162536	1	no_errors	ENST00000321990	ensembl	human	known	70_37	missense	SNP	0.826	C	C	29162536	G	C	29162536	3	2	173	1	0	0	0	0	1	0	0	0	1077	933	33	1	1443	1	ATAD5	17	29162536	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	272	29162536	52032674	143	32750			2	134		3	3	1105	G		2.188329e-05
C17orf75	64149	genome.wustl.edu	37	chr17	30661853	30661853	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	acttcaacaggagtgtaactCaaagcctatgagagaaaaat	8	7	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:30661853C>G	ENST00000577809.1	-	7	724	c.675G>C	c.(673-675)ttG>ttC	p.L225F	C17orf75_ENST00000225805.4_Missense_Mutation_p.L225F|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	225										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTGTAACTCAAAGCCTATG	0.363																																																	0													98	83	88					17																	30661853		1817	4080	5897	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.675G>C	17.37:g.30661853C>G	ENSP00000464275:p.Leu225Phe		Q7Z2H4	Missense_Mutation	SNP	NULL	p.L225F	ENST00000577809.1	37	c.675	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026100	0.35701	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.56	1.27	0.21489	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.65498	2.005	0.49389	D	0.999781	D	0.71674	0.998	D	0.69142	0.962	T	0.65841	-0.6070	9	0.87932	D	0	-10.1375	7.8067	0.29206	0.0:0.6862:0.1175:0.1963	.	225	Q9HAS0	NJMU_HUMAN	F	225	.	ENSP00000225805:L225F	L	-	3	2	C17orf75	27685966	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	1.433000	0.34947	0.099000	0.17552	0.591000	0.81541	TTG	C17orf75	-	NULL		0.363	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	C	NM_022344		30661853	-1	no_errors	ENST00000225805	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30661853	C	G	30661853	3	3	173	1	0	0	0	0	1	0	0	0	1884	825	29	1	531	1	C17orf75	17	30661853	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	1499317	30661853	50533357	144	32751										
LHX1	3975	genome.wustl.edu	37	chr17	35298151	35298151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cacatccgcgagcagctggcGcaggagaccggcctcaacat	12	15	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:35298151G>A	ENST00000254457.5	+	3	2053	c.642G>A	c.(640-642)gcG>gcA	p.A214A	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	214					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGCAGCTGGCGCAGGAGACCG	0.682																																																	0													17	19	18					17																	35298151		2192	4294	6486	SO:0001819	synonymous_variant	3975			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.642G>A	17.37:g.35298151G>A			Q3MIW0	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.A214	ENST00000254457.5	37	c.642	CCDS11316.1	17																																																																																			LHX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.682	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	HGNC	protein_coding	OTTHUMT00000256704.3	G	NM_005568		35298151	1	no_errors	ENST00000254457	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35298151	G	A	35298151	2	1	173	1	0	0	0	0	0	0	0	1	8790	1074	38	2		2	LHX1	17	35298151	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	4636298	35298151	45897059	145	32752										
LPO	4025	genome.wustl.edu	37	chr17	56327979	56327979	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggagacaactgcttccccatCatggtacggccctgcagcta	10	14	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:56327979C>T	ENST00000262290.4	+	7	1093	c.777C>T	c.(775-777)atC>atT	p.I259I	LPO_ENST00000421678.2_Silent_p.I176I|LPO_ENST00000582328.1_Silent_p.I176I|LPO_ENST00000543544.1_Silent_p.I200I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	259					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCTTCCCCATCATGGTACGGC	0.552																																																	0													96	69	78					17																	56327979		2203	4300	6503	SO:0001819	synonymous_variant	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.777C>T	17.37:g.56327979C>T			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.I259	ENST00000262290.4	37	c.777	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.552	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56327979	1	no_errors	ENST00000262290	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56327979	C	T	56327979	2	4	173	1	0	0	0	0	0	0	0	1	8945	816	29	1		1	LPO	17	56327979	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	21029828	56327979	24867231	146	32753										
TUBD1	51174	genome.wustl.edu	37	chr17	57937752	57937752	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tctaaaaagtcctcttcttcGattccaaattttgtgtactg	5	9	3	0	rs376202678		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:57937752G>T	ENST00000592426.1	-	8	1293	c.1293C>A	c.(1291-1293)atC>atA	p.I431I	TUBD1_ENST00000376094.4_Silent_p.I329I|TUBD1_ENST00000539018.1_Silent_p.I215I|TUBD1_ENST00000394239.3_Silent_p.I374I|TUBD1_ENST00000346141.6_Silent_p.I177I|TUBD1_ENST00000325752.3_Silent_p.I431I|TUBD1_ENST00000340993.6_Silent_p.I376I			Q9UJT1	TBD_HUMAN	tubulin, delta 1	431					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CCTCTTCTTCGATTCCAAATT	0.333																																																	0													117	113	115					17																	57937752		2203	4300	6503	SO:0001819	synonymous_variant	51174			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1293C>A	17.37:g.57937752G>T			B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.I431	ENST00000592426.1	37	c.1293	CCDS11620.1	17																																																																																			TUBD1	-	superfamily_Tub_FtsZ_C,prints_Delta_tubulin		0.333	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	G	NM_016261		57937752	-1	no_errors	ENST00000325752	ensembl	human	known	70_37	silent	SNP	0.988	T	T	57937752	G	T	57937752	2	4	173	1	0	0	0	0	0	0	0	1	16793	1048	37	3		3	TUBD1	17	57937752	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	1609773	57937752	23257458	147	32754										
CD300LF	146722	genome.wustl.edu	37	chr17	72691888	72691888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gtgacatattccacttccacCtggtcaacctgggcagagga	10	12	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:72691888C>T	ENST00000326165.6	-	6	804	c.693G>A	c.(691-693)caG>caA	p.Q231Q	RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_3'UTR|CD300LF_ENST00000583937.1_Silent_p.Q246Q|CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000464910.1_Silent_p.Q234Q|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000361254.4_3'UTR|CD300LF_ENST00000469092.1_3'UTR	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	231					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCACTTCCACCTGGTCAACCT	0.642																																																	0													97	84	88					17																	72691888		2203	4300	6503	SO:0001819	synonymous_variant	146722			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"Immunoglobulin superfamily / V-set domain containing"	29883	protein-coding gene	gene with protein product		609807	"CD300 antigen like family member F"			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.693G>A	17.37:g.72691888C>T			B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.Q231	ENST00000326165.6	37	c.693	CCDS11704.1	17																																																																																			CD300LF	-	NULL		0.642	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD300LF	HGNC	protein_coding	OTTHUMT00000145085.1	C	NM_139018		72691888	-1	no_errors	ENST00000326165	ensembl	human	known	70_37	silent	SNP	0.000	T	T	72691888	C	T	72691888	2	4	173	1	0	0	0	0	0	0	0	1	3006	680	24	4		4	CD300LF	17	72691888	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	14754136	72691888	8503322	148	32755										
HN1	51155	genome.wustl.edu	37	chr17	73144629	73144629	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agataacaagagtacctgctGacttggcccaagaagcttga	10	9	0	5			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:73144629G>A	ENST00000409753.3	-	2	479	c.194C>T	c.(193-195)tCa>tTa	p.S65L	HN1_ENST00000481647.1_Missense_Mutation_p.S19L|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.S65L|HN1_ENST00000470924.1_Missense_Mutation_p.S19L|HN1_ENST00000482348.1_Missense_Mutation_p.S19L|HN1_ENST00000392566.2_Missense_Mutation_p.S19L|HN1_ENST00000476258.1_Missense_Mutation_p.S19L|Y_RNA_ENST00000516233.1_RNA|HN1_ENST00000581874.1_Missense_Mutation_p.S65L|RP11-649A18.4_ENST00000579554.1_RNA|HN1_ENST00000405458.3_Missense_Mutation_p.S19L	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	65					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					AGTACCTGCTGACTTGGCCCA	0.483																																																	0													105	90	95					17																	73144629		2203	4300	6503	SO:0001583	missense	51155			AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"androgen-regulated protein 2"					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.194C>T	17.37:g.73144629G>A	ENSP00000387059:p.Ser65Leu		B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	NULL	p.S65L	ENST00000409753.3	37	c.194	CCDS45771.1	17	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626189	0.28978	.	.	ENSG00000189159	ENST00000405458;ENST00000409753;ENST00000356033;ENST00000409135;ENST00000392566	.	.	.	4.86	3.89	0.44902	.	0.248614	0.32687	N	0.005774	T	0.35128	0.0921	L	0.47716	1.5	0.33046	D	0.532077	B;B;P	0.38078	0.122;0.386;0.617	B;B;B	0.30855	0.036;0.08;0.121	T	0.54655	-0.8261	9	0.87932	D	0	-41.134	8.0071	0.30332	0.0811:0.0:0.7611:0.1578	.	65;65;65	B8ZZT7;Q9UK76-2;Q9UK76	.;.;HN1_HUMAN	L	19;65;65;65;19	.	ENSP00000348316:S65L	S	-	2	0	HN1	70656224	0.997000	0.39634	0.769000	0.31535	0.225000	0.24961	3.294000	0.51787	1.287000	0.44583	-0.251000	0.11542	TCA	HN1	-	NULL		0.483	HN1-001	KNOWN	basic|CCDS	protein_coding	HN1	HGNC	protein_coding	OTTHUMT00000335692.1	G	NM_001002032		73144629	-1	no_errors	ENST00000356033	ensembl	human	known	70_37	missense	SNP	0.750	A	A	73144629	G	A	73144629	3	1	173	1	0	0	0	0	1	0	0	0	7269	1294	45	1	386	1	HN1	17	73144629	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	452741	73144629	8050581	149	32756										
AATK	9625	genome.wustl.edu	37	chr17	79096487	79096487	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gccgcccccgccgggccgcaGagagcgccagcgccgttcaa	14	19	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr17:79096487G>C	ENST00000326724.4	-	11	1273	c.1249C>G	c.(1249-1251)Ctg>Gtg	p.L417V	AATK_ENST00000417379.1_Missense_Mutation_p.L314V|MIR657_ENST00000385003.1_RNA|AATK_ENST00000572339.1_5'Flank	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	417					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ccgggccgcAGAGAGCGCCAG	0.751																																																	0													4	4	4					17																	79096487		1806	3878	5684	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.1249C>G	17.37:g.79096487G>C	ENSP00000324196:p.Leu417Val		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L417V	ENST00000326724.4	37	c.1249	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	g	15.11	2.734986	0.48939	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.79749	-1.3;-1.13	4.61	3.6	0.41247	.	0.288307	0.27495	N	0.019117	T	0.81317	0.4797	M	0.75777	2.31	0.24291	N	0.99516	P	0.52316	0.952	P	0.45913	0.497	T	0.74780	-0.3549	10	0.87932	D	0	.	11.1383	0.48388	0.0:0.0:0.4912:0.5088	.	417	Q6ZMQ8	LMTK1_HUMAN	V	417	ENSP00000324196:L417V;ENSP00000363924:L417V	ENSP00000324196:L417V	L	-	1	2	AATK	76711082	0.329000	0.24696	0.834000	0.33040	0.620000	0.37586	0.644000	0.24766	0.860000	0.35481	0.457000	0.33378	CTG	AATK	-	NULL		0.751	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	G	NM_004920		79096487	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	missense	SNP	0.257	C	C	79096487	G	C	79096487	3	2	173	1	0	0	0	0	1	0	0	0	26	933	33	1	2891	1	AATK	17	79096487	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	5951858	79096487	2098723	150	32757										
FAM38B	63895	genome.wustl.edu	37	chr18	10789223	10789223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ggccaccaccagattgcccaGgactttcatgatgtcctgct	9	14	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr18:10789223G>T	ENST00000503781.3	-	15	2022	c.2023C>A	c.(2023-2025)Ctg>Atg	p.L675M	PIEZO2_ENST00000383408.2_5'Flank|PIEZO2_ENST00000302079.6_Missense_Mutation_p.L675M|PIEZO2_ENST00000580640.1_Missense_Mutation_p.L675M	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	675					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AGATTGCCCAGGACTTTCATG	0.473																																																	0													579	482	512					18																	10789223		692	1591	2283	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2023C>A	18.37:g.10789223G>T	ENSP00000421377:p.Leu675Met		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.L675M	ENST00000503781.3	37	c.2023		18	.	.	.	.	.	.	.	.	.	.	G	8.647	0.897263	0.17686	.	.	ENSG00000154864	ENST00000302079	T	0.12984	2.63	5.85	2.77	0.32553	.	.	.	.	.	T	0.23210	0.0561	M	0.72894	2.215	0.80722	D	1	.	.	.	.	.	.	T	0.01360	-1.1375	7	0.62326	D	0.03	.	5.2755	0.15647	0.1763:0.1053:0.5993:0.1191	.	.	.	.	M	675	ENSP00000303316:L675M	ENSP00000303316:L675M	L	-	1	2	FAM38B	10779223	0.676000	0.27567	0.974000	0.42286	0.847000	0.48162	0.939000	0.28978	0.808000	0.34231	0.655000	0.94253	CTG	PIEZO2	-	NULL		0.473	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	G	NM_022068		10789223	-1	no_errors	ENST00000582913	ensembl	human	known	70_37	missense	SNP	0.345	T	T	10789223	G	T	10789223	3	4	173	1	0	0	0	0	1	0	0	0	5573	991	35	4	6387	4	FAM38B	18	10789223	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		10789223	67288025	151	32758										
CXXC1	30827	genome.wustl.edu	37	chr18	47809337	47809337	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	acccgtgagctcaaagacatCacgtacaagggggcacccgc	11	14	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr18:47809337C>G	ENST00000285106.6	-	14	2425	c.1711G>C	c.(1711-1713)Gat>Cat	p.D571H	MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Silent_p.V558V|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.D575H|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000398493.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	571					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCAAAGACATCACGTACAAGG	0.602																																																	0													73	70	71					18																	47809337		2203	4300	6503	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1711G>C	18.37:g.47809337C>G	ENSP00000285106:p.Asp571His		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.D575H	ENST00000285106.6	37	c.1723	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288328	0.59976	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.27104	1.69;1.69	4.2	4.2	0.49525	CpG binding protein, C-terminal (1);	0.131076	0.49916	D	0.000132	T	0.41811	0.1175	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.71870	0.975;0.973;0.954	T	0.36456	-0.9747	10	0.72032	D	0.01	-15.9561	14.4149	0.67142	0.0:1.0:0.0:0.0	.	575;571;438	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	H	571;575	ENSP00000285106:D571H;ENSP00000390475:D575H	ENSP00000285106:D571H	D	-	1	0	CXXC1	46063335	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	4.176000	0.58269	2.033000	0.60031	0.453000	0.30009	GAT	CXXC1	-	pfam_CpG-bd_C		0.602	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2	C	NM_014593		47809337	-1	no_errors	ENST00000412036	ensembl	human	known	70_37	missense	SNP	0.994	G	G	47809337	C	G	47809337	3	3	173	1	0	0	0	0	1	0	0	0	4102	826	29	1	267	1	CXXC1	18	47809337	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	37020114	47809337	30267911	152	32759										
CXXC1	30827	genome.wustl.edu	37	chr18	47810186	47810186	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tcactgtcaccctcgttgctCtgcatggaatggaaggaaca	10	11	3	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr18:47810186C>G	ENST00000285106.6	-	11	2128		c.e11-1		CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Splice_Site|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Splice_Site|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000398493.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.?(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCTCGTTGCTCTGCATGGAAT	0.577																																																	1	Unknown(1)	lung(1)											138	122	128					18																	47810186		2203	4300	6503	SO:0001630	splice_region_variant	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1414-1G>C	18.37:g.47810186C>G			B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Splice_Site	SNP	-	e11-1	ENST00000285106.6	37	c.1426-1	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626924	0.46840	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3793	0.74641	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CXXC1	46064184	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	7.146000	0.77373	2.290000	0.77057	0.467000	0.42956	.	CXXC1	-	-		0.577	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2	C	NM_014593	Intron	47810186	-1	no_errors	ENST00000412036	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	47810186	C	G	47810186	5	3	173	1	0	0	0	0	0	0	1	0	4102	927	32	1	577	1	CXXC1	18	47810186	Splice_Site	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	849	47810186	30267062	153	32760										
FBN3	84467	genome.wustl.edu	37	chr19	8151189	8151189	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gttgacacagaggtcaggctGagcgtggcattcattgtcat	13	8	3	3			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:8151189G>C	ENST00000600128.1	-	55	7189	c.6775C>G	c.(6775-6777)Cag>Gag	p.Q2259E	FBN3_ENST00000601739.1_Missense_Mutation_p.Q2259E|FBN3_ENST00000270509.2_Missense_Mutation_p.Q2259E			Q75N90	FBN3_HUMAN	fibrillin 3	2259	EGF-like 37; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGTCAGGCTGAGCGTGGCAT	0.647																																																	0													98	85	89					19																	8151189		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6775C>G	19.37:g.8151189G>C	ENSP00000470498:p.Gln2259Glu		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.Q2259E	ENST00000600128.1	37	c.6775	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835465	0.32421	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.91686	-2.89	4.44	-1.1	0.09872	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.062950	0.64402	U	0.000011	D	0.83658	0.5302	N	0.13327	0.33	0.26572	N	0.973533	P;P	0.46621	0.881;0.826	P;B	0.47864	0.559;0.371	T	0.78628	-0.2130	10	0.17832	T	0.49	.	9.0458	0.36345	0.0:0.1123:0.2347:0.6529	.	2259;365	Q75N90;Q6ZNB8	FBN3_HUMAN;.	E	2259;365	ENSP00000270509:Q2259E	ENSP00000270509:Q2259E	Q	-	1	0	FBN3	8057189	1.000000	0.71417	0.085000	0.20634	0.001000	0.01503	4.100000	0.57762	-0.036000	0.13669	-0.324000	0.08512	CAG	FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	G	NM_032447		8151189	-1	no_errors	ENST00000270509	ensembl	human	known	70_37	missense	SNP	0.995	C	C	8151189	G	C	8151189	3	2	173	1	0	0	0	0	1	0	0	0	5722	1299	45	1	1694	1	FBN3	19	8151189	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		8151189	50977794	154	32761										
LPPR2	64748	genome.wustl.edu	37	chr19	11475044	11475044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gtcgcagaactgcgcccgccGtggccacctgatccccagct	11	18	0	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:11475044G>A	ENST00000251473.5	+	10	1397	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R321H	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TGCGCCCGCCGTGGCCACCTG	0.632																																																	0													21	23	22					19																	11475044		2203	4297	6500	SO:0001583	missense	64748																														ENST00000251473.5:c.1021G>A	19.37:g.11475044G>A	ENSP00000251473:p.Val341Met			Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R321H	ENST00000251473.5	37	c.962	CCDS12258.1	19	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275566	0.59649	.	.	ENSG00000105520	ENST00000251473	T	0.34275	1.37	5.35	3.18	0.36537	.	1.610720	0.03814	N	0.266493	T	0.21387	0.0515	N	0.08118	0	0.29198	N	0.875387	P	0.50943	0.94	B	0.35971	0.215	T	0.37619	-0.9698	10	0.39692	T	0.17	-4.3276	12.2991	0.54864	0.0:0.3275:0.6725:0.0	.	341	Q96GM1	LPPR2_HUMAN	M	341	ENSP00000251473:V341M	ENSP00000251473:V341M	V	+	1	0	AC024575.1	11336044	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.062000	0.49971	0.622000	0.30249	0.467000	0.42956	GTG	LPPR2	-	NULL		0.632	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	Uniprot_genename	protein_coding	OTTHUMT00000458779.1	G			11475044	1	no_errors	ENST00000591608	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11475044	G	A	11475044	3	1	173	1	0	0	0	0	1	0	0	0	8948	1145	40	2	1067	2	LPPR2	19	11475044	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	3323855	11475044	47653939	155	32762										
ZNF208	7757	genome.wustl.edu	37	chr19	22157310	22157310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aaatgatctgacgtattcttTacattgcaaatgtttctttc	5	7	3	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:22157310T>C	ENST00000397126.4	-	4	674	c.526A>G	c.(526-528)Aaa>Gaa	p.K176E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACGTATTCTTTACATTGCAAA	0.328																																																	0													104	100	101					19																	22157310		2038	4224	6262	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.526A>G	19.37:g.22157310T>C	ENSP00000380315:p.Lys176Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K176E	ENST00000397126.4	37	c.526	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	0.218	-1.031210	0.02029	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.14516	2.5	1.62	-1.17	0.09648	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	.	.	.	0.09310	N	1	P	0.36909	0.573	B	0.27887	0.084	T	0.34625	-0.9821	8	0.08179	T	0.78	.	3.0389	0.06132	0.0:0.362:0.2471:0.3909	.	176	O43345	ZN208_HUMAN	E	176	ENSP00000380315:K176E	ENSP00000380315:K176E	K	-	1	0	ZNF208	21949150	0.000000	0.05858	0.001000	0.08648	0.564000	0.35744	-3.282000	0.00528	-0.561000	0.06094	0.248000	0.18094	AAA	ZNF208	-	NULL		0.328	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	T	NM_007153		22157310	-1	no_errors	ENST00000397126	ensembl	human	novel	70_37	missense	SNP	0.031	C	C	22157310	T	C	22157310	3	2	173	1	0	0	0	0	1	0	0	0	17796	1763	61	5	3320	5	ZNF208	19	22157310	Missense_Mutation	SNP	T	TCGA-LP-A7HU-01A-11D-A33O-09	10682266	22157310	36971673	156	32763										
HAUS5	23354	genome.wustl.edu	37	chr19	36110587	36110587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cacagagccgggagctgctgCgctgtctggaggaggaagtc	17	10	1	1	rs199586387	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:36110587C>T	ENST00000203166.5	+	15	1358	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	445					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGAGCTGCTGCGCTGTCTGGA	0.662													C|||	2	0.000399361	8e-04	0	5008	,	,		13602	0		0	False		,,,				2504	0.001																0								C	CYS/ARG	1,4223		0,1,2111	23	26	25		1333	3.4	0.8	19		25	4,8478		0,4,4237	yes	missense	HAUS5	NM_015302.1	180	0,5,6348	TT,TC,CC		0.0472,0.0237,0.0394	probably-damaging	445/634	36110587	5,12701	2112	4241	6353	SO:0001583	missense	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1333C>T	19.37:g.36110587C>T	ENSP00000439056:p.Arg445Cys		B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	NULL	p.R445C	ENST00000203166.5	37	c.1333	CCDS42550.1	19	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038737	0.35989	2.37E-4	4.72E-4	ENSG00000249115	ENST00000203166	T	0.33216	1.42	4.5	3.41	0.39046	.	0.524779	0.19442	N	0.114151	T	0.39091	0.1065	M	0.65975	2.015	0.19300	N	0.999978	D	0.64830	0.994	P	0.50896	0.653	T	0.23226	-1.0194	10	0.62326	D	0.03	1.8147	9.5607	0.39366	0.0:0.7659:0.2341:0.0	.	445	O94927	HAUS5_HUMAN	C	445	ENSP00000439056:R445C	ENSP00000439056:R445C	R	+	1	0	HAUS5	40802427	0.000000	0.05858	0.785000	0.31869	0.021000	0.10359	0.808000	0.27154	2.340000	0.79590	0.561000	0.74099	CGC	HAUS5	-	NULL		0.662	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	C			36110587	1	no_errors	ENST00000203166	ensembl	human	known	70_37	missense	SNP	0.012	T	T	36110587	C	T	36110587	3	4	173	1	0	0	0	0	1	0	0	0	6989	768	27	2	1391	2	HAUS5	19	36110587	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	13953277	36110587	23018396	157	32764										
TYROBP	7305	genome.wustl.edu	37	chr19	36398351	36398351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctgctagccccactcaccctCcgcagcccctcgcccccgag	7	24	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:36398351C>T	ENST00000262629.4	-	3	292	c.226G>A	c.(226-228)Gag>Aag	p.E76K	TYROBP_ENST00000544690.2_Missense_Mutation_p.E65K|TYROBP_ENST00000424586.3_Missense_Mutation_p.E65K|TYROBP_ENST00000589517.1_Missense_Mutation_p.E76K|TYROBP_ENST00000585901.2_Missense_Mutation_p.E76K	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	76					axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTCACCCTCCGCAGCCCCT	0.632																																																	0													35	42	40					19																	36398351		2202	4300	6502	SO:0001583	missense	7305			AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"killer activating receptor associated protein", "DNAX-activation protein 12"	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.226G>A	19.37:g.36398351C>T	ENSP00000262629:p.Glu76Lys		A8K2X0|F5H389|Q6FGA5|Q9UMT3	Missense_Mutation	SNP	NULL	p.E76K	ENST00000262629.4	37	c.226	CCDS12482.1	19	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722214	0.48728	.	.	ENSG00000011600	ENST00000262629;ENST00000424586;ENST00000544690	D;D;D	0.86956	-2.19;-2.14;-2.19	4.81	1.24	0.21308	.	0.642064	0.14347	N	0.325328	T	0.77598	0.4154	L	0.60455	1.87	0.09310	N	1	P;P	0.34724	0.465;0.465	B;B	0.31101	0.124;0.124	T	0.61182	-0.7114	10	0.10377	T	0.69	.	3.3302	0.07082	0.1761:0.5568:0.1708:0.0963	.	76;76	O43914-2;O43914	.;TYOBP_HUMAN	K	76;76;65	ENSP00000262629:E76K;ENSP00000402371:E76K;ENSP00000445332:E65K	ENSP00000262629:E76K	E	-	1	0	TYROBP	41090191	0.013000	0.17824	0.005000	0.12908	0.431000	0.31685	1.068000	0.30629	0.605000	0.29947	0.591000	0.81541	GAG	TYROBP	-	NULL		0.632	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TYROBP	HGNC	protein_coding	OTTHUMT00000457397.1	C			36398351	-1	no_errors	ENST00000262629	ensembl	human	known	70_37	missense	SNP	0.004	T	T	36398351	C	T	36398351	3	4	173	1	0	0	0	0	1	0	0	0	16846	864	30	1	127	1	TYROBP	19	36398351	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	287764	36398351	22730632	158	32765										
PAF1	55588	genome.wustl.edu	37	chr19	39879479	39879479	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gctgggtctgagtcaaagatCacctgagcacatggattgat	12	8	3	4			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:39879479C>T	ENST00000599213.2	+	0	0				MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Silent_p.V221V|PAF1_ENST00000221266.7_Silent_p.V188V|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Silent_p.V211V			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGTCAAAGATCACCTGAGCAC	0.547																																																	0													106	81	89					19																	39879479		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879479C>T	Exception_encountered		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	pfam_RNA_pol_II-assoc_Paf1	p.V221	ENST00000599213.2	37	c.663		19																																																																																			PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.547	MED29-011	KNOWN	basic|appris_candidate	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000470870.1	C	XM_290829		39879479	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	silent	SNP	0.839	T	T	39879479	C	T	39879479	1	4	173	0	1	0	0	0	0	0	0	0	11407	813	29	1		1	PAF1	19	39879479	5'Flank	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	3481128	39879479	19249504	159	32766										
NR1H2	7376	genome.wustl.edu	37	chr19	50885827	50885827	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aggacaagaagctgccgcctCtgctgtcggagatctgggac	14	11	2	2	rs143601595	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:50885827C>G	ENST00000253727.5	+	10	1586	c.1351C>G	c.(1351-1353)Ctg>Gtg	p.L451V	NR1H2_ENST00000599105.1_Missense_Mutation_p.L407V|NR1H2_ENST00000542413.1_Missense_Mutation_p.L182V|NR1H2_ENST00000593926.1_Missense_Mutation_p.L451V|NR1H2_ENST00000598168.1_Missense_Mutation_p.L421V|POLD1_ENST00000440232.2_5'Flank|NR1H2_ENST00000411902.2_Missense_Mutation_p.L354V|POLD1_ENST00000599857.1_5'Flank	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	451	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCTGCCGCCTCTGCTGTCGGA	0.662																																																	0													25	32	30					19																	50885827		2044	4211	6255	SO:0001583	missense	7376			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.1351C>G	19.37:g.50885827C>G	ENSP00000253727:p.Leu451Val		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.L451V	ENST00000253727.5	37	c.1351	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	c	13.19	2.162521	0.38217	.	.	ENSG00000131408	ENST00000542413;ENST00000253727;ENST00000411902;ENST00000376942	D;D;D	0.98617	-5.03;-3.47;-3.84	4.26	-1.72	0.08107	Nuclear hormone receptor, ligand-binding (2);	0.512935	0.15222	N	0.273858	D	0.98817	0.9601	M	0.86953	2.85	0.30300	N	0.789542	D;P;D	0.57899	0.98;0.949;0.981	P;D;P	0.70227	0.698;0.968;0.871	D	0.97392	0.9990	10	0.72032	D	0.01	.	8.9716	0.35910	0.0:0.4294:0.0:0.5706	.	451;354;452	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	V	182;451;354;449	ENSP00000445074:L182V;ENSP00000253727:L451V;ENSP00000396151:L354V	ENSP00000253727:L451V	L	+	1	2	NR1H2	55577639	0.782000	0.28689	0.504000	0.27639	0.299000	0.27559	1.453000	0.35167	-0.322000	0.08615	-0.265000	0.10407	CTG	NR1H2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Ecdystd_rcpt		0.662	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	C			50885827	1	no_errors	ENST00000253727	ensembl	human	known	70_37	missense	SNP	0.858	G	G	50885827	C	G	50885827	3	3	173	1	0	0	0	0	1	0	0	0	10641	912	32	1	1381	1	NR1H2	19	50885827	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	11006348	50885827	8243156	160	32767										
SIGLEC8	27181	genome.wustl.edu	37	chr19	51957937	51957937	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctccccagggtcaatgctcaCatgatgaagatgatgcagaa	10	10	2	5			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:51957937C>T	ENST00000321424.3	-	5	1215		c.e5+1		SIGLEC8_ENST00000340550.5_Splice_Site|SIGLEC8_ENST00000430817.1_Splice_Site|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8						cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAATGCTCACATGATGAAGA	0.602																																																	0													118	111	113					19																	51957937		2203	4300	6503	SO:0001630	splice_region_variant	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1148+1G>A	19.37:g.51957937C>T			Q7Z728	Splice_Site	SNP	-	e5+1	ENST00000321424.3	37	c.1148+1	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776944	0.16120	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.39149	D	0.962189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1601	0.31194	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC8	56649749	0.323000	0.24643	0.038000	0.18304	0.066000	0.16364	1.912000	0.39946	1.306000	0.44926	0.393000	0.25936	.	SIGLEC8	-	-		0.602	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	C	NM_014442	Intron	51957937	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	splice_site	SNP	0.177	T	T	51957937	C	T	51957937	5	4	173	1	0	0	0	0	0	0	1	0	14344	492	17	4	362	4	SIGLEC8	19	51957937	Splice_Site	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	1072110	51957937	7171046	161	32768										
ZNF480	147657	genome.wustl.edu	37	chr19	52825335	52825335	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	attcaaactttgcacgacatCaaagaattcataccagagag	6	9	3	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr19:52825335C>T	ENST00000595962.1	+	5	898	c.832C>T	c.(832-834)Caa>Taa	p.Q278*	ZNF480_ENST00000334564.7_Nonsense_Mutation_p.Q235*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.Q201*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGCACGACATCAAAGAATTCA	0.358																																																	0													39	42	41					19																	52825335		2202	4300	6502	SO:0001587	stop_gained	147657			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.832C>T	19.37:g.52825335C>T	ENSP00000471754:p.Gln278*		Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q278*	ENST00000595962.1	37	c.832	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971595	0.34754	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	2.4	-1.91	0.07641	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	1.3337	0.02140	0.1929:0.3072:0.3502:0.1497	.	.	.	.	X	278;235;201	.	ENSP00000334164:Q235X	Q	+	1	0	ZNF480	57517147	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.569000	0.05902	-0.059000	0.13154	0.467000	0.42956	CAA	ZNF480	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	C	NM_144684		52825335	1	no_errors	ENST00000468240	ensembl	human	known	70_37	nonsense	SNP	0.007	T	T	52825335	C	T	52825335	4	4	173	1	0	0	0	0	0	1	0	0	17965	827	29	1	846	1	ZNF480	19	52825335	Nonsense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	867398	52825335	6303648	162	32769										
C20orf194	25943	genome.wustl.edu	37	chr20	3340183	3340183	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	atctgaaagcaaactctccaGagacataggatccatcttgc	7	11	3	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:3340183G>C	ENST00000252032.9	-	7	737	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	RNU6-1019P_ENST00000364424.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	224										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAACTCTCCAGAGACATAGGA	0.363																																																	0													92	82	85					20																	3340183		1859	4122	5981	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.670C>G	20.37:g.3340183G>C	ENSP00000252032:p.Leu224Val		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	NULL	p.L224V	ENST00000252032.9	37	c.670	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867592	0.51588	.	.	ENSG00000088854	ENST00000252032	T	0.24908	1.83	5.24	3.31	0.37934	.	0.000000	0.64402	D	0.000003	T	0.39226	0.1070	L	0.52364	1.645	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.07328	-1.0778	10	0.40728	T	0.16	.	8.0026	0.30306	0.183:0.0:0.817:0.0	.	224	Q5TEA3	CT194_HUMAN	V	224	ENSP00000252032:L224V	ENSP00000252032:L224V	L	-	1	2	C20orf194	3288183	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.713000	0.47194	0.795000	0.33922	-0.150000	0.13652	CTG	C20orf194	-	NULL		0.363	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	G	NM_001009984		3340183	-1	no_errors	ENST00000252032	ensembl	human	known	70_37	missense	SNP	0.995	C	C	3340183	G	C	3340183	3	2	173	1	0	0	0	0	1	0	0	0	2104	933	33	1	2987	1	C20orf194	20	3340183	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09		3340183	59685337	163	32770										
XRN2	22803	genome.wustl.edu	37	chr20	21328885	21328885	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tctgattttgagaagggtacGaaaccggtaagcttaattac	10	6	1	2	rs138790989		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:21328885G>A	ENST00000377191.3	+	18	1862	c.1767G>A	c.(1765-1767)acG>acA	p.T589T	XRN2_ENST00000430571.2_Silent_p.T513T|XRN2_ENST00000539513.1_Silent_p.T535T	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	589					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AGAAGGGTACGAAACCGGTAA	0.343																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	102	97	99		1767	-5.1	1	20	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	XRN2	NM_012255.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		589/951	21328885	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1767G>A	20.37:g.21328885G>A			Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.T589	ENST00000377191.3	37	c.1767	CCDS13144.1	20																																																																																			XRN2	-	pirsf_5_3_exoribonuclease_2		0.343	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	G	NM_012255		21328885	1	no_errors	ENST00000377191	ensembl	human	known	70_37	silent	SNP	0.692	A	A	21328885	G	A	21328885	2	1	173	1	0	0	0	0	0	0	0	1	17491	1045	37	1		1	XRN2	20	21328885	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	17988702	21328885	41696635	164	32771										
CEP250	11190	genome.wustl.edu	37	chr20	34055251	34055251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	atctggaagaatggatgggcGggagccggcccagctgctgc	17	10	1	1	rs548805618		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:34055251G>T	ENST00000397527.1	+	9	1442	c.722G>T	c.(721-723)cGg>cTg	p.R241L	CEP250_ENST00000342580.4_Missense_Mutation_p.R241L|CEP250_ENST00000397524.1_Missense_Mutation_p.R241L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	241					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATGGATGGGCGGGAGCCGGCC	0.572																																																	0													74	80	78					20																	34055251		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.722G>T	20.37:g.34055251G>T	ENSP00000380661:p.Arg241Leu		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.R241L	ENST00000397527.1	37	c.722	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	8.408	0.843545	0.16963	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.47528	2.83;2.83;0.84;1.81	5.56	-2.08	0.07254	.	11.272300	0.00166	N	0.000000	T	0.37210	0.0995	N	0.22421	0.69	0.09310	N	1	B;B	0.29646	0.044;0.253	B;B	0.31614	0.026;0.133	T	0.37430	-0.9706	10	0.40728	T	0.16	.	10.8777	0.46921	0.6022:0.0:0.3978:0.0	.	241;241	A6PVI9;Q9BV73	.;CP250_HUMAN	L	241	ENSP00000380661:R241L;ENSP00000341541:R241L;ENSP00000380658:R241L;ENSP00000413827:R241L	ENSP00000341541:R241L	R	+	2	0	CEP250	33518665	0.000000	0.05858	0.001000	0.08648	0.158000	0.22134	-0.696000	0.05104	-0.231000	0.09825	0.655000	0.94253	CGG	CEP250	-	NULL		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	G	NM_007186		34055251	1	no_errors	ENST00000397527	ensembl	human	known	70_37	missense	SNP	0.000	T	T	34055251	G	T	34055251	3	4	173	1	0	0	0	0	1	0	0	0	3257	1116	39	2	744	2	CEP250	20	34055251	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	12726366	34055251	28970269	165	32772										
WFDC2	10406	genome.wustl.edu	37	chr20	44099101	44099101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctgcacgcaagagtgcgtctCggacagcgaatgcgccgaca	13	13	1	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:44099101C>T	ENST00000372676.3	+	2	228	c.152C>T	c.(151-153)tCg>tTg	p.S51L	AL031663.1_ENST00000599747.1_Intron|WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000217425.5_Missense_Mutation_p.S51L	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	51	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase inhibitor activity (GO:0019828)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1		Myeloproliferative disorder(115;0.0122)				GAGTGCGTCTCGGACAGCGAA	0.667																																																	0													33	27	29					20																	44099101		2199	4298	6497	SO:0001583	missense	10406			X63187	CCDS35501.1	20q13.12	2013-01-21			ENSG00000101443	ENSG00000101443		"WAP four-disulfide core domain containing"	15939	protein-coding gene	gene with protein product	"epididymal protein 4"					1686187, 10570965	Standard	NM_006103		Approved	HE4, WAP5, dJ461P17.6, EDDM4	uc002xoo.3	Q14508	OTTHUMG00000032594	ENST00000372676.3:c.152C>T	20.37:g.44099101C>T	ENSP00000361761:p.Ser51Leu		A2A2A5|A2A2A6|A6PVD5|Q6IB27|Q8WXV9|Q8WXW0|Q8WXW1|Q8WXW2|Q96KJ1	Missense_Mutation	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	p.S51L	ENST00000372676.3	37	c.152	CCDS35501.1	20	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428646	0.25726	.	.	ENSG00000101443	ENST00000372676;ENST00000217425	T;T	0.73681	-0.77;-0.77	4.58	2.62	0.31277	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.524510	0.17661	N	0.166312	T	0.60143	0.2246	L	0.59967	1.855	0.20489	N	0.999896	P	0.35411	0.5	B	0.27608	0.081	T	0.45205	-0.9277	10	0.10636	T	0.68	-4.8997	6.5349	0.22348	0.0:0.7676:0.0:0.2324	.	51	Q14508	WFDC2_HUMAN	L	51	ENSP00000361761:S51L;ENSP00000217425:S51L	ENSP00000217425:S51L	S	+	2	0	WFDC2	43532515	0.003000	0.15002	0.001000	0.08648	0.025000	0.11179	0.895000	0.28363	0.360000	0.24265	0.655000	0.94253	TCG	WFDC2	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core		0.667	WFDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC2	HGNC	protein_coding	OTTHUMT00000079476.3	C			44099101	1	no_errors	ENST00000372676	ensembl	human	known	70_37	missense	SNP	0.004	T	T	44099101	C	T	44099101	3	4	173	1	0	0	0	0	1	0	0	0	17383	893	31	1	158	1	WFDC2	20	44099101	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	10043850	44099101	18926419	166	32773										
PLTP	5360	genome.wustl.edu	37	chr20	44536510	44536510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aggaggaagcgcatccctgaGgtgatgaacgtggagagaaa	16	6	0	4			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:44536510G>A	ENST00000477313.1	-	5	1113	c.519C>T	c.(517-519)acC>acT	p.T173T	PLTP_ENST00000420868.2_Silent_p.T78T|PLTP_ENST00000372420.1_Silent_p.T85T|PLTP_ENST00000542937.1_Silent_p.T193T|PLTP_ENST00000354050.4_Silent_p.T121T|PLTP_ENST00000372431.3_Silent_p.T173T			P55058	PLTP_HUMAN	phospholipid transfer protein	173					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCATCCCTGAGGTGATGAACG	0.592																																																	0													77	61	67					20																	44536510		2201	4299	6500	SO:0001819	synonymous_variant	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.519C>T	20.37:g.44536510G>A			A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.T193	ENST00000477313.1	37	c.579	CCDS13386.1	20																																																																																			PLTP	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.592	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	G	NM_006227		44536510	-1	no_errors	ENST00000542937	ensembl	human	known	70_37	silent	SNP	0.999	A	A	44536510	G	A	44536510	2	1	173	1	0	0	0	0	0	0	0	1	12138	987	35	4		4	PLTP	20	44536510	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	437409	44536510	18489010	167	32774										
ZNF335	63925	genome.wustl.edu	37	chr20	44596160	44596160	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gtcatcaatggctccagcgtCtacaatgtcatcatcgtcct	7	13	5	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:44596160C>T	ENST00000322927.2	-	6	1028	c.928G>A	c.(928-930)Gac>Aac	p.D310N	ZNF335_ENST00000426788.1_Missense_Mutation_p.D155N|ZNF335_ENST00000494955.1_5'UTR	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	310					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTCCAGCGTCTACAATGTCA	0.537																																																	0													237	191	207					20																	44596160		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.928G>A	20.37:g.44596160C>T	ENSP00000325326:p.Asp310Asn		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D310N	ENST00000322927.2	37	c.928	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	c	20.3	3.959333	0.74016	.	.	ENSG00000198026	ENST00000322927;ENST00000426788	T;T	0.23754	2.05;1.89	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.06534	-1.0821	10	0.30854	T	0.27	-21.0391	17.1352	0.86737	0.0:1.0:0.0:0.0	.	155;310	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	N	310;155	ENSP00000325326:D310N;ENSP00000397098:D155N	ENSP00000325326:D310N	D	-	1	0	ZNF335	44029567	1.000000	0.71417	0.195000	0.23364	0.221000	0.24807	6.691000	0.74573	2.582000	0.87167	0.556000	0.70494	GAC	ZNF335	-	NULL		0.537	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	C	NM_022095		44596160	-1	no_errors	ENST00000322927	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44596160	C	T	44596160	3	4	173	1	0	0	0	0	1	0	0	0	17882	913	32	1	3192	1	ZNF335	20	44596160	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	59650	44596160	18429360	168	32775										
ZNF831	128611	genome.wustl.edu	37	chr20	57769075	57769075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	caggcccctccccaggtgagGcggacagcatcctggaggac	14	15	0	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr20:57769075G>T	ENST00000371030.2	+	1	3001	c.3001G>T	c.(3001-3003)Gcg>Tcg	p.A1001S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1001							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCAGGTGAGGCGGACAGCAT	0.642																																																	0													38	40	39					20																	57769075		1948	4142	6090	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3001G>T	20.37:g.57769075G>T	ENSP00000360069:p.Ala1001Ser		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1001S	ENST00000371030.2	37	c.3001	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356934	0.24598	.	.	ENSG00000124203	ENST00000371030	T	0.05447	3.44	4.56	2.43	0.29744	.	0.924705	0.09105	N	0.847868	T	0.04272	0.0118	N	0.19112	0.55	0.09310	N	1	B	0.24132	0.098	B	0.19666	0.026	T	0.44757	-0.9307	10	0.22109	T	0.4	-2.4201	6.0607	0.19837	0.1:0.0:0.7136:0.1864	.	1001	Q5JPB2	ZN831_HUMAN	S	1001	ENSP00000360069:A1001S	ENSP00000360069:A1001S	A	+	1	0	ZNF831	57202470	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.366000	0.20365	1.049000	0.40321	0.467000	0.42956	GCG	ZNF831	-	NULL		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	G	NM_178457		57769075	1	no_errors	ENST00000371030	ensembl	human	novel	70_37	missense	SNP	0.000	T	T	57769075	G	T	57769075	3	4	173	1	0	0	0	0	1	0	0	0	18215	1203	42	4	3003	4	ZNF831	20	57769075	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	13172915	57769075	5256445	169	32776										
KCNJ6	3763	genome.wustl.edu	37	chr21	39086695	39086695	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	acgttgatatccgtctggttCaacgggatgaactccccctc	9	13	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr21:39086695C>A	ENST00000609713.1	-	3	1354	c.765G>T	c.(763-765)ttG>ttT	p.L255F	KCNJ6_ENST00000288309.6_Missense_Mutation_p.L255F|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	255					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCGTCTGGTTCAACGGGATGA	0.502																																					Pancreas(48;379 1118 2936 19024 28214)												0													112	113	112					21																	39086695		1910	4143	6053	SO:0001583	missense	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.765G>T	21.37:g.39086695C>A	ENSP00000477437:p.Leu255Phe		Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.L255F	ENST00000609713.1	37	c.765	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653087	0.47362	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.96427	-4.01;-4.01	6.17	3.27	0.37495	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	L	0.58428	1.81	0.49915	D	0.999837	D	0.89917	1.0	D	0.97110	1.0	D	0.93620	0.6947	10	0.39692	T	0.17	.	4.3467	0.11136	0.1126:0.3748:0.3772:0.1353	.	255	P48051	IRK6_HUMAN	F	255	ENSP00000383330:L255F;ENSP00000288309:L255F	ENSP00000288309:L255F	L	-	3	2	KCNJ6	38008565	1.000000	0.71417	0.954000	0.39281	0.789000	0.44602	1.329000	0.33770	0.415000	0.25817	0.655000	0.94253	TTG	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	C	NM_002240		39086695	-1	no_errors	ENST00000288309	ensembl	human	known	70_37	missense	SNP	0.998	A	A	39086695	C	A	39086695	3	1	173	1	0	0	0	0	1	0	0	0	8075	825	29	3	514	3	KCNJ6	21	39086695	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		39086695	9043200	170	32777										
UMODL1	89766	genome.wustl.edu	37	chr21	43504341	43504341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	aggggggcgctactgcatggCccctgcaccccaaggtaggc	15	14	0	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr21:43504341C>A	ENST00000408910.2	+	3	467	c.467C>A	c.(466-468)gCc>gAc	p.A156D	UMODL1_ENST00000408989.2_Missense_Mutation_p.A156D|UMODL1_ENST00000400427.1_Missense_Mutation_p.A84D|UMODL1_ENST00000400424.2_Missense_Mutation_p.A84D	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	156	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TACTGCATGGCCCCTGCACCC	0.642																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													48	51	50					21																	43504341		1924	4130	6054	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.467C>A	21.37:g.43504341C>A	ENSP00000386147:p.Ala156Asp		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.A156D	ENST00000408910.2	37	c.467	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	C	6.153	0.396511	0.11638	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	3.86	0.905	0.19307	Whey acidic protein, 4-disulphide core (5);	1.047410	0.07566	N	0.917807	T	0.47173	0.1431	N	0.14661	0.345	0.09310	N	1	B;B	0.33637	0.42;0.009	B;B	0.25506	0.061;0.018	T	0.38845	-0.9642	10	0.54805	T	0.06	-11.598	3.3953	0.07303	0.4008:0.3946:0.0:0.2045	.	156;156	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	D	84;84;156;156;2;2	ENSP00000383279:A84D;ENSP00000383276:A84D;ENSP00000386126:A156D;ENSP00000386147:A156D	ENSP00000369829:A2D	A	+	2	0	UMODL1	42377410	0.261000	0.24063	0.017000	0.16124	0.007000	0.05969	0.478000	0.22212	0.177000	0.19895	-0.253000	0.11424	GCC	UMODL1	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core		0.642	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	C			43504341	1	no_errors	ENST00000408989	ensembl	human	known	70_37	missense	SNP	0.042	A	A	43504341	C	A	43504341	3	1	173	1	0	0	0	0	1	0	0	0	17011	739	26	4	477	4	UMODL1	21	43504341	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	4417646	43504341	4625554	171	32778										
PIWIL3	440822	genome.wustl.edu	37	chr22	25115784	25115784	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gtatctgggctcaagccaatCgtgtcatagatgacgttata	10	8	3	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr22:25115784C>T	ENST00000332271.5	-	20	2879	c.2463G>A	c.(2461-2463)acG>acA	p.T821T	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.T703T|PIWIL3_ENST00000527701.1_Silent_p.T703T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	821	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCAAGCCAATCGTGTCATAGA	0.383																																																	0													100	95	97					22																	25115784		2203	4300	6503	SO:0001819	synonymous_variant	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2463G>A	22.37:g.25115784C>T				Silent	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.T821	ENST00000332271.5	37	c.2463	CCDS33623.1	22																																																																																			PIWIL3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.383	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	C	NM_001008496		25115784	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	silent	SNP	0.000	T	T	25115784	C	T	25115784	2	4	173	1	0	0	0	0	0	0	0	1	11983	871	31	1		1	PIWIL3	22	25115784	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		25115784	26188782	172	32779										
ADRBK2	157	genome.wustl.edu	37	chr22	26110434	26110434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttggtcatctctgaacgctgGcagcaagaagtaacggaaac	11	9	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr22:26110434G>T	ENST00000324198.6	+	18	1743	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	RNA5SP494_ENST00000410653.1_RNA	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	517	AGC-kinase C-terminal.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CTGAACGCTGGCAGCAAGAAG	0.383																																																	0													74	72	73					22																	26110434		2203	4300	6503	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1551G>T	22.37:g.26110434G>T	ENSP00000317578:p.Trp517Cys		Q9UGW9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.W517C	ENST00000324198.6	37	c.1551	CCDS13832.1	22	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730420	0.69074	.	.	ENSG00000100077	ENST00000324198	T	0.24350	1.86	5.44	5.44	0.79542	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72077	-0.4399	10	0.87932	D	0	-18.5802	18.6268	0.91342	0.0:0.0:1.0:0.0	.	517	P35626	ARBK2_HUMAN	C	517	ENSP00000317578:W517C	ENSP00000317578:W517C	W	+	3	0	ADRBK2	24440434	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	8.968000	0.93407	2.715000	0.92844	0.655000	0.94253	TGG	ADRBK2	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase		0.383	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK2	HGNC	protein_coding	OTTHUMT00000317296.4	G	NM_005160		26110434	1	no_errors	ENST00000324198	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26110434	G	T	26110434	3	4	173	1	0	0	0	0	1	0	0	0	344	1212	42	4	1621	4	ADRBK2	22	26110434	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	994650	26110434	25194132	173	32780										
BAIAP2L2	80115	genome.wustl.edu	37	chr22	38504320	38504320	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ccaatcttctggatggcactGaagtagacctcggccgcctc	10	14	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr22:38504320G>A	ENST00000381669.3	-	3	300	c.156C>T	c.(154-156)ttC>ttT	p.F52F	BAIAP2L2_ENST00000332536.5_Silent_p.F52F	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	52	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GGATGGCACTGAAGTAGACCT	0.627																																																	0													33	40	38					22																	38504320		1975	4132	6107	SO:0001819	synonymous_variant	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.156C>T	22.37:g.38504320G>A			B0QYE2|Q96BG7	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.F52	ENST00000381669.3	37	c.156	CCDS43018.1	22																																																																																			BAIAP2L2	-	pfam_IRSp53/MIM_homology_IMD		0.627	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L2	HGNC	protein_coding	OTTHUMT00000321727.1	G	NM_025045		38504320	-1	no_errors	ENST00000381669	ensembl	human	known	70_37	silent	SNP	0.994	A	A	38504320	G	A	38504320	2	1	173	1	0	0	0	0	0	0	0	1	1304	1281	45	1		1	BAIAP2L2	22	38504320	Silent	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	12393886	38504320	12800246	174	32781										
GTPBP1	9567	genome.wustl.edu	37	chr22	39101980	39101980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gatggcgacggagcgcagtcGctccgcgatggactcgccgg	17	13	0	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chr22:39101980G>A	ENST00000216044.5	+	1	253	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	7					GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GAGCGCAGTCGCTCCGCGATG	0.682																																																	0													2	2	2					22																	39101980		1621	3386	5007	SO:0001583	missense	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.20G>A	22.37:g.39101980G>A	ENSP00000216044:p.Arg7His		Q6IC67	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.R7H	ENST00000216044.5	37	c.20	CCDS13977.2	22	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005283	0.74932	.	.	ENSG00000100226	ENST00000216044	T	0.34072	1.38	4.76	4.76	0.60689	.	0.196377	0.41605	D	0.000857	T	0.39410	0.1077	N	0.14661	0.345	0.47905	D	0.999549	D	0.71674	0.998	D	0.69479	0.964	T	0.29852	-0.9998	10	0.48119	T	0.1	.	11.625	0.51139	0.0826:0.0:0.9174:0.0	.	7	O00178	GTPB1_HUMAN	H	7	ENSP00000216044:R7H	ENSP00000216044:R7H	R	+	2	0	GTPBP1	37431926	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.019000	0.49635	2.346000	0.79739	0.563000	0.77884	CGC	GTPBP1	-	NULL		0.682	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	G	NM_004286		39101980	1	no_errors	ENST00000216044	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39101980	G	A	39101980	3	1	173	1	0	0	0	0	1	0	0	0	6898	1087	38	2	22	2	GTPBP1	22	39101980	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	597660	39101980	12202586	175	32782										
GPM6B	2824	genome.wustl.edu	37	chrX	13803802	13803802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gtgttgctcaagaatcgccaCggtgcctgcgagagccacat	12	12	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:13803802C>T	ENST00000356942.5	-	2	628	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	GPM6B_ENST00000493677.1_Missense_Mutation_p.V77M|GPM6B_ENST00000355135.2_Missense_Mutation_p.V103M|GPM6B_ENST00000398361.3_De_novo_Start_InFrame|GPM6B_ENST00000316715.4_Missense_Mutation_p.V103M|GPM6B_ENST00000454189.2_Missense_Mutation_p.V44M	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	63					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						AGAATCGCCACGGTGCCTGCG	0.582																																																	0													76	66	70					X																	13803802		2203	4300	6503	SO:0001583	missense	2824				CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.187G>A	X.37:g.13803802C>T	ENSP00000349420:p.Val63Met		O76077|Q86X43|Q8N956	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.V103M	ENST00000356942.5	37	c.307	CCDS14158.1	X	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731639	0.30684	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000475307	D;D;D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63;-5.63;-5.63	5.65	4.6	0.57074	.	0.211286	0.43260	D	0.000588	D	0.96636	0.8902	N	0.20986	0.625	0.80722	D	1	B;B;B;B;B;B	0.30937	0.068;0.062;0.301;0.158;0.145;0.275	B;B;B;B;B;B	0.26969	0.019;0.053;0.075;0.049;0.046;0.075	D	0.95984	0.8980	10	0.37606	T	0.19	-8.5771	12.1705	0.54155	0.0:0.8503:0.0:0.1497	.	77;44;63;103;55;103	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	M	103;44;77;103;63;63	ENSP00000316861:V103M;ENSP00000389915:V44M;ENSP00000419904:V77M;ENSP00000347258:V103M;ENSP00000349420:V63M;ENSP00000418594:V63M	ENSP00000316861:V103M	V	-	1	0	GPM6B	13713723	0.713000	0.27926	0.978000	0.43139	0.616000	0.37450	1.373000	0.34272	2.387000	0.81309	0.600000	0.82982	GTG	GPM6B	-	pfam_Myelin_PLP		0.582	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPM6B	HGNC	protein_coding	OTTHUMT00000055822.1	C	NM_001001995		13803802	-1	no_errors	ENST00000316715	ensembl	human	known	70_37	missense	SNP	0.534	T	T	13803802	C	T	13803802	3	4	173	1	0	0	0	0	1	0	0	0	6635	536	19	2	788	2	GPM6B	23	13803802	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09		13803802	141466758	176	32783										
GLRA2	2742	genome.wustl.edu	37	chrX	14627259	14627259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	atgcagcccctgccagggtcGcactgggcatcaccacagtc	11	16	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:14627259G>A	ENST00000218075.4	+	7	1392	c.862G>A	c.(862-864)Gca>Aca	p.A288T	GLRA2_ENST00000443437.2_Missense_Mutation_p.A199T|GLRA2_ENST00000355020.4_Missense_Mutation_p.A288T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	288					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.A288T(1)|p.A288S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TGCCAGGGTCGCACTGGGCAT	0.468																																																	2	Substitution - Missense(2)	ovary(1)|lung(1)											84	83	84					X																	14627259		2203	4300	6503	SO:0001583	missense	2742				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.862G>A	X.37:g.14627259G>A	ENSP00000218075:p.Ala288Thr		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel	p.A288T	ENST00000218075.4	37	c.862	CCDS14160.1	X	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682558	0.88542	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.84516	-1.86;-1.86;-1.86	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	L	0.33792	1.035	0.80722	D	1	P;D;P	0.56035	0.839;0.974;0.916	B;P;P	0.49799	0.327;0.55;0.622	D	0.86883	0.2043	10	0.87932	D	0	.	18.3146	0.90215	0.0:0.0:1.0:0.0	.	272;288;288	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	199;288;288	ENSP00000387756:A199T;ENSP00000218075:A288T;ENSP00000347123:A288T	ENSP00000218075:A288T	A	+	1	0	GLRA2	14537180	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	9.771000	0.98977	2.264000	0.75181	0.600000	0.82982	GCA	GLRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.468	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA2	HGNC	protein_coding	OTTHUMT00000055829.1	G			14627259	1	no_errors	ENST00000218075	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14627259	G	A	14627259	3	1	173	1	0	0	0	0	1	0	0	0	6474	1087	38	2	960	2	GLRA2	23	14627259	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	823457	14627259	140643301	177	32784										
SCML1	6322	genome.wustl.edu	37	chrX	17768235	17768235	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ctggaggaggacccgatcctCagccgcactccgagtccagt	12	15	1	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:17768235C>T	ENST00000380041.3	+	6	853	c.525C>T	c.(523-525)ctC>ctT	p.L175L	SCML1_ENST00000380043.3_Silent_p.L148L|SCML1_ENST00000380045.3_Silent_p.L54L|SCML1_ENST00000398080.1_Silent_p.L54L	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	175					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					ACCCGATCCTCAGCCGCACTC	0.522																																																	0													115	102	106					X																	17768235		2203	4300	6503	SO:0001819	synonymous_variant	6322				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"Sterile alpha motif (SAM) domain containing"	10580	protein-coding gene	gene with protein product		300227	"sex comb on midleg (Drosophila)-like 1"			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.525C>T	X.37:g.17768235C>T			B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L175	ENST00000380041.3	37	c.525	CCDS35210.1	X																																																																																			SCML1	-	NULL		0.522	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCML1	HGNC	protein_coding	OTTHUMT00000060495.5	C	NM_006746		17768235	1	no_errors	ENST00000380041	ensembl	human	known	70_37	silent	SNP	0.000	T	T	17768235	C	T	17768235	2	4	173	1	0	0	0	0	0	0	0	1	13939	813	29	1		1	SCML1	23	17768235	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	3140976	17768235	137502325	178	32785										
PHEX	5251	genome.wustl.edu	37	chrX	22095639	22095639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	gccactgctacacatcctacGgcattcacctttccgctggc	7	17	1	0	rs138497409		TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:22095639G>A	ENST00000379374.4	+	5	1047	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	PHEX_ENST00000537599.1_Missense_Mutation_p.R161Q|PHEX_ENST00000535894.1_Missense_Mutation_p.R64Q	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	161					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CACATCCTACGGCATTCACCT	0.473																																																	0								G	GLN/ARG	2,3833		0,2,1630,571	190	176	181		482	5.4	1	X	dbSNP_134	181	0,6728		0,0,2428,1872	no	missense	PHEX	NM_000444.4	43	0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189	benign	161/750	22095639	2,10561	2203	4300	6503	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.482G>A	X.37:g.22095639G>A	ENSP00000368682:p.Arg161Gln		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R161Q	ENST00000379374.4	37	c.482	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854373	0.32791	5.22E-4	0.0	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	D;D;D	0.81659	-1.52;-1.52;-1.52	5.39	5.39	0.77823	Peptidase M13 (1);	0.211384	0.48767	D	0.000163	T	0.52805	0.1757	N	0.05050	-0.12	0.80722	D	1	P;B	0.42871	0.792;0.11	B;B	0.28709	0.093;0.017	T	0.57780	-0.7752	10	0.22109	T	0.4	.	8.5543	0.33471	0.2285:0.0:0.7715:0.0	.	161;161	F5GXU4;P78562	.;PHEX_HUMAN	Q	161;161;64	ENSP00000368682:R161Q;ENSP00000440362:R161Q;ENSP00000439418:R64Q	ENSP00000368682:R161Q	R	+	2	0	PHEX	22005560	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.847000	0.48270	2.248000	0.74166	0.594000	0.82650	CGG	PHEX	-	pfam_Peptidase_M13_N		0.473	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	G	NM_000444		22095639	1	no_errors	ENST00000379374	ensembl	human	known	70_37	missense	SNP	0.998	A	A	22095639	G	A	22095639	3	1	173	1	0	0	0	0	1	0	0	0	11843	1116	39	2	500	2	PHEX	23	22095639	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	4327404	22095639	133174921	179	32786										
ACRC	93953	genome.wustl.edu	37	chrX	70824020	70824021	+	Missense_Mutation	DNP	GC	GC	AG													0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttcggaagcttccgacgacaGcagtgatgattcggaagctc							TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:70824020_70824021GC>AG	ENST00000373695.1	+	7	1430_1431	c.893_894GC>AG	c.(892-894)aGC>aAG	p.S298K	ACRC_ENST00000373696.3_Missense_Mutation_p.S298K			Q96QF7	ACRC_HUMAN	acidic repeat containing	298	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TCCGACGACAGCAGTGATGATT	0.515																																																	0																																										SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	Exception_encountered	X.37:g.70824020_70824021delinsAG	ENSP00000362799:p.Ser298Lys		B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S298N|p.S298R	ENST00000373695.1	37	c.893|c.894	CCDS35326.1	X																																																																																			ACRC	-	NULL		0.515	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	G|C			70824020|70824021	1	no_errors	ENST00000373695	ensembl	human	known	70_37	missense	SNP	0.026|0.010	A|G	AG	70824021	GC	AG	70824020	3	1	173	1	0	0	0	0	1	0	0	0	171	971	34	4	919	4	ACRC	23	70824020	Missense_Mutation	DNP	GC	TCGA-LP-A7HU-01A-11D-A33O-09	48728381	70824020	84446540	180	32787										
MAGEE2	139599	genome.wustl.edu	37	chrX	75003785	75003785	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	actggtatcaacctcaatcaGagacaacccatagaacatat	5	11	3	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:75003785G>C	ENST00000373359.2	-	1	1294	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	368	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCAATCAGAGACAACCCA	0.458																																																	0													94	77	83					X																	75003785		2203	4300	6503	SO:0001583	missense	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1102C>G	X.37:g.75003785G>C	ENSP00000362457:p.Leu368Val		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L368V	ENST00000373359.2	37	c.1102	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545043	0.27652	.	.	ENSG00000186675	ENST00000373359	T	0.12879	2.64	3.18	1.4	0.22301	.	.	.	.	.	T	0.20047	0.0482	L	0.36672	1.1	0.32999	D	0.525996	D	0.69078	0.997	D	0.76071	0.987	T	0.29027	-1.0025	9	0.37606	T	0.19	.	3.7521	0.08570	0.1493:0.254:0.5967:0.0	.	368	Q8TD90	MAGE2_HUMAN	V	368	ENSP00000362457:L368V	ENSP00000362457:L368V	L	-	1	2	MAGEE2	74920510	1.000000	0.71417	0.991000	0.47740	0.492000	0.33523	0.727000	0.25999	0.241000	0.21283	-0.418000	0.06021	CTG	MAGEE2	-	pfam_MAGE,pfscan_MAGE		0.458	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	G	NM_138703		75003785	-1	no_errors	ENST00000373359	ensembl	human	known	70_37	missense	SNP	0.990	C	C	75003785	G	C	75003785	3	2	173	1	0	0	0	0	1	0	0	0	9209	933	33	1	473	1	MAGEE2	23	75003785	Missense_Mutation	SNP	G	TCGA-LP-A7HU-01A-11D-A33O-09	4179765	75003785	80266775	181	32788										
UPF3B	65109	genome.wustl.edu	37	chrX	118979190	118979190	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	tagtcccgactttggtatctCttttcttagtcttctttttt	5	9	4	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:118979190C>G	ENST00000276201.2	-	4	509	c.440G>C	c.(439-441)aGa>aCa	p.R147T	UPF3B_ENST00000345865.2_Missense_Mutation_p.R147T|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	147	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTGGTATCTCTTTTCTTAGT	0.333																																																	0													141	128	133					X																	118979190		2203	4300	6503	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.440G>C	X.37:g.118979190C>G	ENSP00000276201:p.Arg147Thr		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.R147T	ENST00000276201.2	37	c.440	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234299	0.39498	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.62788	-0.0;-0.0	5.12	4.12	0.48240	Regulator of nonsense-mediated decay, UPF3 (1);	0.196194	0.53938	D	0.000049	T	0.57021	0.2025	L	0.46885	1.475	0.38538	D	0.949145	B;D	0.54601	0.403;0.967	B;P	0.50082	0.157;0.63	T	0.64236	-0.6455	10	0.87932	D	0	.	3.261	0.06849	0.0:0.5772:0.0:0.4228	.	147;147	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	T	147	ENSP00000276201:R147T;ENSP00000245418:R147T	ENSP00000276201:R147T	R	-	2	0	UPF3B	118863218	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	3.062000	0.49971	2.105000	0.64084	0.594000	0.82650	AGA	UPF3B	-	pfam_Nonsense_mediated_decay_UPF3		0.333	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	C			118979190	-1	no_errors	ENST00000276201	ensembl	human	known	70_37	missense	SNP	1.000	G	G	118979190	C	G	118979190	3	3	173	1	0	0	0	0	1	0	0	0	17037	913	32	1	1043	1	UPF3B	23	118979190	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	43975405	118979190	36291370	182	32789										
XPNPEP2	7512	genome.wustl.edu	37	chrX	128876102	128876102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	agcttgtgcctggggccacaCaaagccagtggaccttggag	14	11	0	0			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:128876102C>A	ENST00000371106.3	+	2	260	c.68C>A	c.(67-69)aCa>aAa	p.T23K	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.T23K	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	23						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGGGGCCACACAAAGCCAGTG	0.637																																																	0													54	48	50					X																	128876102		2203	4300	6503	SO:0001583	missense	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.68C>A	X.37:g.128876102C>A	ENSP00000360147:p.Thr23Lys		A0AV16|O75994	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.T23K	ENST00000371106.3	37	c.68	CCDS14613.1	X	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918736	0.17982	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	T	0.73681	-0.77	5.33	4.44	0.53790	.	0.517294	0.21847	N	0.068230	T	0.54775	0.1879	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.005	B;B	0.16289	0.015;0.006	T	0.51949	-0.8640	10	0.72032	D	0.01	-9.304	10.329	0.43812	0.1965:0.8035:0.0:0.0	.	23;23	B4DV70;O43895	.;XPP2_HUMAN	K	23	ENSP00000360147:T23K	ENSP00000360146:T23K	T	+	2	0	XPNPEP2	128703783	0.994000	0.37717	0.005000	0.12908	0.133000	0.20885	3.589000	0.53972	1.075000	0.40932	0.583000	0.79449	ACA	XPNPEP2	-	NULL		0.637	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	C	NM_003399		128876102	1	no_errors	ENST00000371106	ensembl	human	known	70_37	missense	SNP	0.057	A	A	128876102	C	A	128876102	3	1	173	1	0	0	0	0	1	0	0	0	17474	478	17	4	74	4	XPNPEP2	23	128876102	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	9896912	128876102	26394458	183	32790										
UTP14A	10813	genome.wustl.edu	37	chrX	129042083	129042083	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	caaaagcttctggaagcaatCagttcccttgatggaaagaa	9	8	2	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:129042083C>T	ENST00000394422.3	+	3	178	c.150C>T	c.(148-150)atC>atT	p.I50I	UTP14A_ENST00000425117.2_Silent_p.I50I|UTP14A_ENST00000371051.5_Missense_Mutation_p.S18L|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	50					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGGAAGCAATCAGTTCCCTTG	0.428																																																	0													115	99	104					X																	129042083		2203	4300	6503	SO:0001819	synonymous_variant	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.150C>T	X.37:g.129042083C>T			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.S18L	ENST00000394422.3	37	c.53	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771210	0.31320	.	.	ENSG00000156697	ENST00000371051	T	0.18016	2.24	5.0	-0.132	0.13489	.	.	.	.	.	T	0.13157	0.0319	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07366	-1.0776	8	0.56958	D	0.05	-8.5282	8.7156	0.34410	0.0:0.3728:0.0:0.6272	.	18	F8WD00	.	L	18	ENSP00000360090:S18L	ENSP00000360090:S18L	S	+	2	0	UTP14A	128869764	0.943000	0.32029	0.993000	0.49108	0.973000	0.67179	0.025000	0.13577	-0.060000	0.13132	0.422000	0.28245	TCA	UTP14A	-	NULL		0.428	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	C	NM_006649		129042083	1	no_errors	ENST00000371051	ensembl	human	known	70_37	missense	SNP	0.771	T	T	129042083	C	T	129042083	2	4	173	1	0	0	0	0	0	0	0	1	17126	816	29	1		1	UTP14A	23	129042083	Silent	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	165981	129042083	26228477	184	32791										
MAGEC3	139081	genome.wustl.edu	37	chrX	140983110	140983110	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttcccgacttgcactgtgggAgtctgaaggacctgaagcat	12	10	1	2			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:140983110A>T	ENST00000298296.1	+	5	965	c.965A>T	c.(964-966)gAg>gTg	p.E322V	MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.E74V	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	322	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCACTGTGGGAGTCTGAAGGA	0.592																																																	0													125	113	117					X																	140983110		2203	4300	6503	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.965A>T	X.37:g.140983110A>T	ENSP00000298296:p.Glu322Val		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E322V	ENST00000298296.1	37	c.965	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	N	7.769	0.707101	0.15239	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.42513	3.74;0.97	0.819	0.819	0.18785	.	.	.	.	.	T	0.27524	0.0676	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	B	0.43728	0.429	T	0.13308	-1.0514	8	0.66056	D	0.02	.	.	.	.	.	322	Q8TD91	MAGC3_HUMAN	V	322;74	ENSP00000298296:E322V;ENSP00000395092:E74V	ENSP00000298296:E322V	E	+	2	0	MAGEC3	140810776	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.082000	0.11304	0.571000	0.29365	0.289000	0.19496	GAG	MAGEC3	-	NULL		0.592	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	A	NM_138702		140983110	1	no_errors	ENST00000298296	ensembl	human	known	70_37	missense	SNP	0.005	T	T	140983110	A	T	140983110	3	4	173	1	0	0	0	0	1	0	0	0	9205	304	11	5	983	5	MAGEC3	23	140983110	Missense_Mutation	SNP	A	TCGA-LP-A7HU-01A-11D-A33O-09	11941027	140983110	14287450	185	32792										
MAGEA6	4105	genome.wustl.edu	37	chrX	151869756	151869756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	ttggcagtacttctttcctgTgatcttcagcaaagcttccg	8	11	3	1			TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:151869756T>C	ENST00000329342.5	+	3	671	c.446T>C	c.(445-447)gTg>gCg	p.V149A		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	149	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTTTCCTGTGATCTTCAGC	0.527																																																	0													157	139	145					X																	151869756		2202	4299	6501	SO:0001583	missense	4105				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.446T>C	X.37:g.151869756T>C	ENSP00000329199:p.Val149Ala		A8IF93|Q6NW44	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V149A	ENST00000329342.5	37	c.446	CCDS14708.1	X	.	.	.	.	.	.	.	.	.	.	t	4.938	0.174312	0.09391	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.04502	3.61;3.61;3.61	0.605	-1.21	0.09524	.	.	.	.	.	T	0.06645	0.0170	M	0.78637	2.42	0.09310	N	1	P	0.47106	0.89	B	0.43623	0.425	T	0.14144	-1.0483	8	0.36615	T	0.2	.	.	.	.	.	149	P43360	MAGA6_HUMAN	A	149	ENSP00000329199:V149A;ENSP00000403303:V149A;ENSP00000401806:V149A	ENSP00000329199:V149A	V	+	2	0	MAGEA6	151620412	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-2.193000	0.01244	-1.924000	0.01064	-1.287000	0.01368	GTG	MAGEA6	-	pfam_MAGE,pfscan_MAGE		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	HGNC	protein_coding	OTTHUMT00000058747.2	T	NM_005363		151869756	1	no_errors	ENST00000329342	ensembl	human	known	70_37	missense	SNP	0.001	C	C	151869756	T	C	151869756	3	2	173	1	0	0	0	0	1	0	0	0	9193	1696	59	5	448	5	MAGEA6	23	151869756	Missense_Mutation	SNP	T	TCGA-LP-A7HU-01A-11D-A33O-09	10886646	151869756	3400804	186	32793										
PLXNA3	55558	genome.wustl.edu	37	chrX	153692561	153692561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.338709677419355	63	3.5078166944881e-16	3.04078014184397	5.42996453900709	2.35815602836879	0.0410964275846599	0.128592047603613	42	cgtgagctgcgccttcgaggCggcggcggagaacgaggcgg	20	11	0	2	rs142270837	byFrequency	TCGA-LP-A7HU-01A-11D-A33O-09	TCGA-LP-A7HU-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a18b1abe-5e70-4077-8bb9-fbc2c13a2845	25a5b3f8-5354-48e0-a3c8-05268f2075ed	g.chrX:153692561C>T	ENST00000369682.3	+	8	1908	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	578					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCTTCGAGGCGGCGGCGGAG	0.692																																																	0									VAL/ALA	2,3827		0,2,0,1629,567	28	25	26		1733	2.7	0.2	X	dbSNP_134	26	9,6708		0,4,5,2422,1860	yes	missense	PLXNA3	NM_017514.3	64	0,6,5,4051,2427	TT,TC,T,CC,C		0.134,0.0522,0.1043	benign	578/1872	153692561	11,10535	2198	4291	6489	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1733C>T	X.37:g.153692561C>T	ENSP00000358696:p.Ala578Val		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A578V	ENST00000369682.3	37	c.1733	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738844	0.15642	5.22E-4	0.00134	ENSG00000130827	ENST00000369682	T	0.00958	5.5	5.3	2.72	0.32119	.	0.186926	0.20142	U	0.098352	T	0.00815	0.0027	N	0.22421	0.69	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.48258	-0.9051	10	0.30854	T	0.27	.	7.0985	0.25323	0.617:0.2964:0.0866:0.0	.	578	P51805	PLXA3_HUMAN	V	578	ENSP00000358696:A578V	ENSP00000358696:A578V	A	+	2	0	PLXNA3	153345755	0.962000	0.33011	0.204000	0.23530	0.003000	0.03518	2.220000	0.42908	0.658000	0.30925	-0.397000	0.06425	GCG	PLXNA3	-	NULL		0.692	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153692561	1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	0.194	T	T	153692561	C	T	153692561	3	4	173	1	0	0	0	0	1	0	0	0	12145	768	27	2	1759	2	PLXNA3	23	153692561	Missense_Mutation	SNP	C	TCGA-LP-A7HU-01A-11D-A33O-09	1822805	153692561	1577999	187	32794										
TTLL10	254173	genome.wustl.edu	37	chr1	1132485	1132485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tggggcaggtatggctgctgGagatgaattctaacccagcc	14	9	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:1132485G>C	ENST00000379290.1	+	15	1704	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q	TTLL10_ENST00000379289.1_Missense_Mutation_p.E511Q			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	511	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATGGCTGCTGGAGATGAATTC	0.627																																																	0													46	60	55					1																	1132485		692	1591	2283	SO:0001583	missense	254173			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1531G>C	1.37:g.1132485G>C	ENSP00000368592:p.Glu511Gln		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E511Q	ENST00000379290.1	37	c.1531	CCDS44036.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322489	0.81580	.	.	ENSG00000162571	ENST00000379290;ENST00000379289	T;T	0.44482	0.92;0.92	3.71	3.71	0.42584	ATP-grasp fold, subdomain 2 (1);	0.721452	0.12093	U	0.500199	T	0.76407	0.3983	H	0.97564	4.03	0.42164	D	0.991616	D	0.89917	1.0	D	0.81914	0.995	T	0.82339	-0.0506	10	0.87932	D	0	.	13.3183	0.60419	0.0:0.0:1.0:0.0	.	511	Q6ZVT0	TTL10_HUMAN	Q	511	ENSP00000368592:E511Q;ENSP00000368591:E511Q	ENSP00000368591:E511Q	E	+	1	0	TTLL10	1122348	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.730000	0.91510	1.782000	0.52362	0.557000	0.71058	GAG	TTLL10	-	pfam_Tub_tyr_ligase		0.627	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10	HGNC	protein_coding	OTTHUMT00000002421.3	G	NM_153254		1132485	1	no_errors	ENST00000379289	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1132485	G	C	1132485	3	2	174	1	0	0	0	0	1	0	0	0	16754	1175	41	1	1610	1	TTLL10	1	1132485	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		1132485	248118136	1	32795										
CAMTA1	23261	genome.wustl.edu	37	chr1	7723501	7723501	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ccacggacaggggggtacggGagccactcggaggtgcagca	18	11	0	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:7723501G>C	ENST00000303635.7	+	9	1101	c.894G>C	c.(892-894)ggG>ggC	p.G298G	CAMTA1_ENST00000439411.2_Silent_p.G298G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGGGTACGGGAGCCACTCGG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													104	109	107					1																	7723501		2203	4300	6503	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.894G>C	1.37:g.7723501G>C			A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G298	ENST00000303635.7	37	c.894	CCDS30576.1	1																																																																																			CAMTA1	-	NULL		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7723501	1	no_errors	ENST00000303635	ensembl	human	known	70_37	silent	SNP	0.998	C	C	7723501	G	C	7723501	2	2	174	1	0	0	0	0	0	0	0	1	2618	1161	41	1		1	CAMTA1	1	7723501	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	6591016	7723501	241527120	2	32796										
ENO1	2023	genome.wustl.edu	37	chr1	8922948	8922948	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ctcaggagccctccttacctGaggagctggttgtacttggc	12	12	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:8922948G>A	ENST00000234590.4	-	11	1352	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	411	Required for interaction with PLG. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTCCTTACCTGAGGAGCTGGT	0.582											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)												0													67	60	62					1																	8922948		2203	4300	6503	SO:0001819	synonymous_variant	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1233C>T	1.37:g.8922948G>A		653	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.L411	ENST00000234590.4	37	c.1233	CCDS97.1	1																																																																																			ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.582	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	G	NM_001428		8922948	-1	no_errors	ENST00000234590	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8922948	G	A	8922948	2	1	174	1	0	0	0	0	0	0	0	1	5133	1277	45	1		1	ENO1	1	8922948	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	1199447	8922948	240327673	3	32797										
RHD	6007	genome.wustl.edu	37	chr1	25633194	25633194	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tacattgtgctgctggtgctTgataccgtcggagccggcaa	13	10	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:25633194T>A	ENST00000328664.4	+	7	1202	c.1047T>A	c.(1045-1047)ctT>ctA	p.L349L	RHD_ENST00000454452.2_Intron|RHD_ENST00000423810.2_Silent_p.L349L|RHD_ENST00000417538.2_Intron|RHD_ENST00000357542.4_Silent_p.L349L|RHD_ENST00000568195.1_Silent_p.L349L|RHD_ENST00000342055.5_Silent_p.L349L|RHD_ENST00000423253.1_Intron	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	349						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCTGGTGCTTGATACCGTCG	0.552																																																	0													211	165	181					1																	25633194		2118	3756	5874	SO:0001819	synonymous_variant	6007			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.1047T>A	1.37:g.25633194T>A			Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.L349	ENST00000328664.4	37	c.1047	CCDS262.1	1																																																																																			RHD	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD		0.552	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5	T	NM_016124		25633194	1	no_errors	ENST00000328664	ensembl	human	known	70_37	silent	SNP	0.000	A	A	25633194	T	A	25633194	2	1	174	1	0	0	0	0	0	0	0	1	13357	1799	63	5		5	RHD	1	25633194	Silent	SNP	T	TCGA-MU-A51Y-01A-11D-A26G-09	16710246	25633194	223617427	4	32798										
PUM1	9698	genome.wustl.edu	37	chr1	31438980	31438980	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttcagagagttgttgccgtaGaaagaactggatgccaggtt	13	6	1	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:31438980G>A	ENST00000257075.5	-	13	2028	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	PUM1_ENST00000373747.3_Silent_p.F646F|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Silent_p.F619F|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000373742.2_Silent_p.F586F|PUM1_ENST00000426105.2_Silent_p.F645F|PUM1_ENST00000423018.2_Silent_p.F501F|PUM1_ENST00000373741.4_Silent_p.F681F|PUM1_ENST00000424085.2_Silent_p.F403F	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	645	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGTTGCCGTAGAAAGAACTGG	0.542																																																	0													149	143	145					1																	31438980		2203	4300	6503	SO:0001819	synonymous_variant	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1935C>T	1.37:g.31438980G>A			A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Silent	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.F645	ENST00000257075.5	37	c.1935	CCDS338.1	1																																																																																			PUM1	-	NULL		0.542	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31438980	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	silent	SNP	1.000	A	A	31438980	G	A	31438980	2	1	174	1	0	0	0	0	0	0	0	1	12855	933	33	1		1	PUM1	1	31438980	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	5805786	31438980	217811641	5	32799										
PUM1	9698	genome.wustl.edu	37	chr1	31439030	31439030	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ctgctgctggggctggggctGaggctgctgtgttcctaaag	17	9	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:31439030G>A	ENST00000257075.5	-	13	1978	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	PUM1_ENST00000373747.3_Nonsense_Mutation_p.Q630*|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q603*|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000373742.2_Nonsense_Mutation_p.Q570*|PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q629*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.Q485*|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q665*|PUM1_ENST00000424085.2_Nonsense_Mutation_p.Q387*	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	629					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ggctggggctgaggctgCTGT	0.537																																																	0													112	109	110					1																	31439030		2203	4300	6503	SO:0001587	stop_gained	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1885C>T	1.37:g.31439030G>A	ENSP00000257075:p.Gln629*		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Nonsense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.Q629*	ENST00000257075.5	37	c.1885	CCDS338.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.884649|6.884649	0.97908|0.97908	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.054100|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80341	.|0.4605	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77736	.|-0.2476	.|3	0.49607|.	T|.	0.09|.	-4.9368|-4.9368	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	387;629;630;367;629;603;665;485;570|646;340	.|.	ENSP00000257075:Q629X|.	Q|S	-|-	1|2	0|0	PUM1|PUM1	31211617|31211617	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAG|TCA	PUM1	-	NULL		0.537	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31439030	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	31439030	G	A	31439030	4	1	174	1	0	0	0	0	0	1	0	0	12855	1299	45	1	1721	1	PUM1	1	31439030	Nonsense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	50	31439030	217811591	6	32800										
TXLNA	200081	genome.wustl.edu	37	chr1	32660604	32660604	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gagcgcaatgacctgaacaaGagggtacaggacctgagtgc	14	9	0	4			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:32660604G>C	ENST00000373609.1	+	10	1730	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N	TXLNA_ENST00000373610.3_Missense_Mutation_p.K483N			P40222	TXLNA_HUMAN	taxilin alpha	483					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACCTGAACAAGAGGGTACAGG	0.612																																																	0													65	65	65					1																	32660604		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1449G>C	1.37:g.32660604G>C	ENSP00000362711:p.Lys483Asn		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.K483N	ENST00000373609.1	37	c.1449	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213472	0.58452	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.75367	-0.93;-0.93	5.51	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	L	0.27053	0.805	0.58432	D	0.999997	B	0.27765	0.188	B	0.30716	0.119	T	0.60727	-0.7206	10	0.56958	D	0.05	-34.2917	11.5945	0.50964	0.1499:0.0:0.8501:0.0	.	483	P40222	TXLNA_HUMAN	N	483	ENSP00000362712:K483N;ENSP00000362711:K483N	ENSP00000362711:K483N	K	+	3	2	TXLNA	32433191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.198000	0.58419	0.771000	0.33359	0.655000	0.94253	AAG	TXLNA	-	NULL		0.612	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	G	NM_175852		32660604	1	no_errors	ENST00000373609	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32660604	G	C	32660604	3	2	174	1	0	0	0	0	1	0	0	0	16818	933	33	1	1487	1	TXLNA	1	32660604	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	1221574	32660604	216590017	7	32801										
TXLNA	200081	genome.wustl.edu	37	chr1	32660659	32660659	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ccctcactgacagtggccctGagaggaggccagaggggcct	15	13	1	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:32660659G>C	ENST00000373609.1	+	10	1785	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q	TXLNA_ENST00000373610.3_Missense_Mutation_p.E502Q			P40222	TXLNA_HUMAN	taxilin alpha	502					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGTGGCCCTGAGAGGAGGCC	0.642																																																	0													44	44	44					1																	32660659		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1504G>C	1.37:g.32660659G>C	ENSP00000362711:p.Glu502Gln		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.E502Q	ENST00000373609.1	37	c.1504	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565148	0.27915	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.33865	1.39;1.39	4.74	3.73	0.42828	.	0.740122	0.12298	N	0.481418	T	0.20659	0.0497	N	0.19112	0.55	0.31616	N	0.650938	B	0.15719	0.014	B	0.08055	0.003	T	0.12682	-1.0538	10	0.14656	T	0.56	-27.083	7.9782	0.30168	0.0877:0.1636:0.7487:0.0	.	502	P40222	TXLNA_HUMAN	Q	502	ENSP00000362712:E502Q;ENSP00000362711:E502Q	ENSP00000362711:E502Q	E	+	1	0	TXLNA	32433246	.	.	0.996000	0.52242	0.793000	0.44817	.	.	2.582000	0.87167	0.563000	0.77884	GAG	TXLNA	-	NULL		0.642	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	G	NM_175852		32660659	1	no_errors	ENST00000373609	ensembl	human	known	70_37	missense	SNP	0.939	C	C	32660659	G	C	32660659	3	2	174	1	0	0	0	0	1	0	0	0	16818	1291	45	1	1542	1	TXLNA	1	32660659	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	55	32660659	216589962	8	32802										
CDC20	991	genome.wustl.edu	37	chr1	43825052	43825052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cccacagcgccggcaggactCcgggccgaactcctggtcag	13	17	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:43825052C>T	ENST00000372462.1	+	1	369	c.166C>T	c.(166-168)Ccg>Tcg	p.P56S	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.P56S			Q12834	CDC20_HUMAN	cell division cycle 20	56					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGGCAGGACTCCGGGCCGAAC	0.652																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												0													23	29	27					1																	43825052		2203	4300	6503	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.166C>T	1.37:g.43825052C>T	ENSP00000361540:p.Pro56Ser		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P56S	ENST00000372462.1	37	c.166	CCDS484.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.073821	0.94000	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.57907	0.37;0.37	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.63046	0.2478	L	0.56199	1.76	0.80722	D	1	D	0.55800	0.973	P	0.51945	0.685	T	0.61608	-0.7028	10	0.51188	T	0.08	-23.0807	20.3312	0.98718	0.0:1.0:0.0:0.0	.	56	Q12834	CDC20_HUMAN	S	56	ENSP00000308450:P56S;ENSP00000361540:P56S	ENSP00000308450:P56S	P	+	1	0	CDC20	43597639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.461000	0.80834	2.797000	0.96272	0.655000	0.94253	CCG	CDC20	-	NULL		0.652	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	HGNC	protein_coding	OTTHUMT00000019488.1	C	NM_001255		43825052	1	no_errors	ENST00000310955	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43825052	C	T	43825052	3	4	174	1	0	0	0	0	1	0	0	0	3064	855	30	1	168	1	CDC20	1	43825052	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	11164393	43825052	205425569	9	32803										
C1orf173	127254	genome.wustl.edu	37	chr1	75078444	75078444	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atcccattcaggaaaaaggtGagactgaaggggaaaccatg	12	7	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:75078444G>T	ENST00000326665.5	-	9	1268	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L	C1orf173_ENST00000420661.2_Silent_p.L153L|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		350										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAAAAAGGTGAGACTGAAGG	0.428																																																	0													85	85	85					1																	75078444		2203	4300	6503	SO:0001819	synonymous_variant	127254																														ENST00000326665.5:c.1050C>A	1.37:g.75078444G>T			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	NULL	p.L350	ENST00000326665.5	37	c.1050	CCDS30755.1	1																																																																																			C1orf173	-	NULL		0.428	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	G			75078444	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	silent	SNP	1.000	T	T	75078444	G	T	75078444	2	4	174	1	0	0	0	0	0	0	0	1	2019	1277	45	3		3	C1orf173	1	75078444	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	31253392	75078444	174172177	10	32804										
CDC7	8317	genome.wustl.edu	37	chr1	91989843	91989843	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atagctgtgagcattgttttGatgagtataataccaattta	8	4	0	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:91989843G>T	ENST00000428239.1	+	12	1835	c.1576G>T	c.(1576-1578)Gat>Tat	p.D526Y	CDC7_ENST00000430031.2_Missense_Mutation_p.D498Y|CDC7_ENST00000234626.6_Missense_Mutation_p.D526Y	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		gcattgttttgatgagtataA	0.388																																																	0													146	152	150					1																	91989843		2203	4300	6503	SO:0001583	missense	8317			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1576G>T	1.37:g.91989843G>T	ENSP00000393139:p.Asp526Tyr		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D526Y	ENST00000428239.1	37	c.1576	CCDS734.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021057	0.54576	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.52526	0.66;0.81;0.81	5.94	-4.14	0.03892	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	2.167500	0.01327	N	0.011138	T	0.25680	0.0625	N	0.16567	0.415	0.09310	N	1	P;B;P	0.45240	0.822;0.008;0.854	P;B;P	0.53988	0.671;0.029;0.739	T	0.27468	-1.0073	10	0.72032	D	0.01	-3.7295	7.6649	0.28426	0.448:0.1928:0.3592:0.0	.	498;526;526	B7Z5H7;B2R6V2;O00311	.;.;CDC7_HUMAN	Y	498;526;526	ENSP00000407477:D498Y;ENSP00000234626:D526Y;ENSP00000393139:D526Y	ENSP00000234626:D526Y	D	+	1	0	CDC7	91762431	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	0.563000	0.23547	-0.636000	0.05524	-0.157000	0.13467	GAT	CDC7	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.388	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1	G	NM_003503		91989843	1	no_errors	ENST00000234626	ensembl	human	known	70_37	missense	SNP	0.000	T	T	91989843	G	T	91989843	3	4	174	1	0	0	0	0	1	0	0	0	3089	1290	45	3	1618	3	CDC7	1	91989843	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	16911399	91989843	157260778	11	32805										
ATP5F1	515	genome.wustl.edu	37	chr1	111999270	111999270	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agcaaaaacttgcccaactaGaagaggcgaagcaggcttcc	10	11	0	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:111999270G>A	ENST00000369722.3	+	5	1012	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.E75K	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	136					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGCCCAACTAGAAGAGGCGAA	0.413																																																	0													76	74	74					1																	111999270		2203	4300	6503	SO:0001583	missense	515			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.406G>A	1.37:g.111999270G>A	ENSP00000358737:p.Glu136Lys		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_bsu_mt	p.E136K	ENST00000369722.3	37	c.406	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429893	0.43122	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.28454	1.61;1.61	5.4	5.4	0.78164	.	0.145131	0.64402	D	0.000009	T	0.15478	0.0373	L	0.47190	1.495	0.35767	D	0.820594	P;P	0.40266	0.71;0.71	P;P	0.44477	0.451;0.451	T	0.10683	-1.0619	10	0.25106	T	0.35	.	5.0425	0.14465	0.079:0.1464:0.6228:0.1518	.	136;136	Q08ET0;P24539	.;AT5F1_HUMAN	K	136;75	ENSP00000358737:E136K;ENSP00000420366:E75K	ENSP00000358737:E136K	E	+	1	0	ATP5F1	111800793	0.767000	0.28508	0.994000	0.49952	0.479000	0.33129	1.040000	0.30278	2.703000	0.92315	0.655000	0.94253	GAA	ATP5F1	-	pfam_ATPase_F0-cplx_bsu_mt		0.413	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	G	NM_001688		111999270	1	no_errors	ENST00000369722	ensembl	human	known	70_37	missense	SNP	0.967	A	A	111999270	G	A	111999270	3	1	174	1	0	0	0	0	1	0	0	0	1153	943	33	1	424	1	ATP5F1	1	111999270	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	20009427	111999270	137251351	12	32806										
PHTF1	10745	genome.wustl.edu	37	chr1	114300327	114300327	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agaaatcaatttaccttaatCtgagtctgttcgattgactt	6	7	3	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:114300327C>G	ENST00000369604.1	-	3	579	c.96G>C	c.(94-96)caG>caC	p.Q32H	PHTF1_ENST00000369598.1_Missense_Mutation_p.Q32H|PHTF1_ENST00000357783.2_Missense_Mutation_p.Q32H|PHTF1_ENST00000447664.2_Missense_Mutation_p.Q32H|PHTF1_ENST00000369596.2_Missense_Mutation_p.Q32H|PHTF1_ENST00000393357.2_Missense_Mutation_p.Q32H|PHTF1_ENST00000369600.1_Missense_Mutation_p.Q32H			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	32					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACCTTAATCTGAGTCTGTT	0.378																																																	0													146	127	133					1																	114300327		2203	4300	6503	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.96G>C	1.37:g.114300327C>G	ENSP00000358617:p.Gln32His		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.Q32H	ENST00000369604.1	37	c.96	CCDS861.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179738	0.78564	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783;ENST00000447664;ENST00000446739	.	.	.	5.07	3.2	0.36748	Transcription factor homeodomain, male germ-cell (1);	0.193170	0.44483	D	0.000458	T	0.39489	0.1080	L	0.36672	1.1	0.32975	D	0.522802	P;D;D;D	0.76494	0.942;0.973;0.999;0.973	P;P;D;P	0.64595	0.785;0.837;0.927;0.864	T	0.39881	-0.9592	9	0.59425	D	0.04	-11.6879	8.5152	0.33242	0.0:0.8224:0.0:0.1776	.	32;32;32;32	F5H7M5;Q9UMS5;B4DGS8;Q9UMS5-2	.;PHTF1_HUMAN;.;.	H	32	.	ENSP00000350428:Q32H	Q	-	3	2	PHTF1	114101850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.202000	0.32271	1.125000	0.41998	0.655000	0.94253	CAG	PHTF1	-	pfam_TF_homeodomain_male		0.378	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	C	NM_006608		114300327	-1	no_errors	ENST00000369604	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114300327	C	G	114300327	3	3	174	1	0	0	0	0	1	0	0	0	11886	912	32	1	2260	1	PHTF1	1	114300327	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	2301057	114300327	134950294	13	32807										
SETDB1	9869	genome.wustl.edu	37	chr1	150902570	150902570	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttgagattcctgatgaagatGatgatgtcctcagtattgat	10	5	1	7			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:150902570G>A	ENST00000271640.5	+	3	578	c.388G>A	c.(388-390)Gat>Aat	p.D130N	SETDB1_ENST00000368969.4_Missense_Mutation_p.D130N|SETDB1_ENST00000368963.1_Missense_Mutation_p.D130N|SETDB1_ENST00000368962.2_Missense_Mutation_p.D130N|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	130					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGATGAAGATGATGATGTCCT	0.438																																																	0													101	101	101					1																	150902570		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.388G>A	1.37:g.150902570G>A	ENSP00000271640:p.Asp130Asn		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.D130N	ENST00000271640.5	37	c.388	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.368724	0.95900	.	.	ENSG00000143379	ENST00000525956;ENST00000271640;ENST00000448029;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000368963;ENST00000498193;ENST00000423081	D;T;T;D;T	0.91068	-2.78;0.45;0.99;-2.78;0.71	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.91540	0.7328	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.996;0.993	D;D;D;D;D	0.87578	0.996;0.998;0.993;0.993;0.984	D	0.91223	0.5008	10	0.45353	T	0.12	.	19.5808	0.95467	0.0:0.0:1.0:0.0	.	130;130;130;130;130	E9PRF4;E9PQM8;Q15047-2;Q15047-3;Q15047	.;.;.;.;SETB1_HUMAN	N	130;130;130;130;130;130;130;130;144	ENSP00000271640:D130N;ENSP00000357958:D130N;ENSP00000436148:D130N;ENSP00000357965:D130N;ENSP00000432348:D130N	ENSP00000271640:D130N	D	+	1	0	SETDB1	149169194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.434000	0.73408	2.706000	0.92434	0.655000	0.94253	GAT	SETDB1	-	NULL		0.438	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	G			150902570	1	no_errors	ENST00000271640	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150902570	G	A	150902570	3	1	174	1	0	0	0	0	1	0	0	0	14168	1290	45	1	394	1	SETDB1	1	150902570	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	36602243	150902570	98348051	14	32808										
SETDB1	9869	genome.wustl.edu	37	chr1	150922972	150922972	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agcctctgccccagcaccctCagcactcccggcccctccag	7	23	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:150922972C>T	ENST00000271640.5	+	13	1809	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	SETDB1_ENST00000368969.4_Missense_Mutation_p.S540L|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	540					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCAGCACCCTCAGCACTCCCG	0.572																																																	0													64	72	70					1																	150922972		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1619C>T	1.37:g.150922972C>T	ENSP00000271640:p.Ser540Leu		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.S540L	ENST00000271640.5	37	c.1619	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	C	8.637	0.895091	0.17613	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.87029	-2.2;1.57;-2.2;1.29	4.97	4.97	0.65823	.	0.376195	0.26769	U	0.022583	T	0.60117	0.2244	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.22414	0.002;0.02;0.069;0.041	B;B;B;B	0.16289	0.01;0.015;0.015;0.007	T	0.60316	-0.7287	10	0.25106	T	0.35	.	15.3202	0.74115	0.0:1.0:0.0:0.0	.	540;541;540;540	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	L	540;541;540;540	ENSP00000271640:S540L;ENSP00000436148:S541L;ENSP00000357965:S540L;ENSP00000432348:S540L	ENSP00000271640:S540L	S	+	2	0	SETDB1	149189596	0.002000	0.14202	0.167000	0.22817	0.127000	0.20565	0.602000	0.24134	2.454000	0.82982	0.655000	0.94253	TCA	SETDB1	-	NULL		0.572	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	C			150922972	1	no_errors	ENST00000271640	ensembl	human	known	70_37	missense	SNP	0.358	T	T	150922972	C	T	150922972	3	4	174	1	0	0	0	0	1	0	0	0	14168	838	29	1	1665	1	SETDB1	1	150922972	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	20402	150922972	98327649	15	32809										
EFNA1	1942	genome.wustl.edu	37	chr1	155100462	155100462	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aggccccgcgctatggagttCctctgggcccctctcttggg	13	15	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:155100462C>T	ENST00000368407.3	+	1	527	c.9C>T	c.(7-9)ttC>ttT	p.F3F	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.F3F	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	3					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTATGGAGTTCCTCTGGGCCC	0.652																																																	0													41	45	44					1																	155100462		2203	4300	6503	SO:0001819	synonymous_variant	1942				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"Ephrins"	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.9C>T	1.37:g.155100462C>T			D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.F3	ENST00000368407.3	37	c.9	CCDS1091.1	1																																																																																			EFNA1	-	NULL		0.652	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA1	HGNC	protein_coding	OTTHUMT00000085428.1	C	NM_004428		155100462	1	no_errors	ENST00000368407	ensembl	human	known	70_37	silent	SNP	0.993	T	T	155100462	C	T	155100462	2	4	174	1	0	0	0	0	0	0	0	1	4960	854	30	1		1	EFNA1	1	155100462	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	4177490	155100462	94150159	16	32810										
RASAL2	9462	genome.wustl.edu	37	chr1	178408665	178408665	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agaggggaacctgtatcagtGaaaccacttcatagtagcat	10	8	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:178408665G>A	ENST00000462775.1	+	4	464	c.339G>A	c.(337-339)gtG>gtA	p.V113V	RASAL2_ENST00000367649.3_Silent_p.V261V|RASAL2_ENST00000448150.3_Silent_p.V243V	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	113	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTGTATCAGTGAAACCACTTC	0.413																																																	0													141	129	133					1																	178408665		2203	4300	6503	SO:0001819	synonymous_variant	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.339G>A	1.37:g.178408665G>A			F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.V261	ENST00000462775.1	37	c.783	CCDS1322.1	1																																																																																			RASAL2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.413	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	G	NM_170692		178408665	1	no_errors	ENST00000367649	ensembl	human	known	70_37	silent	SNP	1.000	A	A	178408665	G	A	178408665	2	1	174	1	0	0	0	0	0	0	0	1	13094	1277	45	1		1	RASAL2	1	178408665	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	23308203	178408665	70841956	17	32811										
USH2A	7399	genome.wustl.edu	37	chr1	215807849	215807849	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttcaatggagacatcctcttCtgaagaggtaccaagggagg	12	8	3	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:215807849C>T	ENST00000307340.3	-	70	15635	c.15249G>A	c.(15247-15249)caG>caA	p.Q5083Q	USH2A_ENST00000366943.2_Silent_p.Q5083Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5083					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATCCTCTTCTGAAGAGGTA	0.438										HNSCC(13;0.011)																																							0													112	112	112					1																	215807849		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15249G>A	1.37:g.215807849C>T			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q5083	ENST00000307340.3	37	c.15249	CCDS31025.1	1																																																																																			USH2A	-	NULL		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		215807849	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	silent	SNP	0.995	T	T	215807849	C	T	215807849	2	4	174	1	0	0	0	0	0	0	0	1	17067	912	32	1		1	USH2A	1	215807849	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	37399184	215807849	33442772	18	32812										
TMEM63A	9725	genome.wustl.edu	37	chr1	226054373	226054373	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aagatggtgtgcagccaaagGaggtcattgctgagagggaa	16	5	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:226054373G>A	ENST00000366835.3	-	9	846	c.576C>T	c.(574-576)ctC>ctT	p.L192L	TMEM63A_ENST00000537914.1_5'UTR|TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	192					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCAGCCAAAGGAGGTCATTGC	0.567																																																	0													104	88	93					1																	226054373		2203	4300	6503	SO:0001819	synonymous_variant	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.576C>T	1.37:g.226054373G>A			Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	pfam_DUF221	p.L192	ENST00000366835.3	37	c.576	CCDS31042.1	1																																																																																			TMEM63A	-	NULL		0.567	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	G	NM_014698		226054373	-1	no_errors	ENST00000366835	ensembl	human	known	70_37	silent	SNP	0.589	A	A	226054373	G	A	226054373	2	1	174	1	0	0	0	0	0	0	0	1	16220	1161	41	1		1	TMEM63A	1	226054373	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	10246524	226054373	23196248	19	32813										
OBSCN	84033	genome.wustl.edu	37	chr1	228496904	228496904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gagcttcaggccaggaggccCgctgggctttaggaggggtg	19	9	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:228496904C>T	ENST00000422127.1	+	48	12888	c.12844C>T	c.(12844-12846)Cgc>Tgc	p.R4282C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5239C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1401C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4282C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1916C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4282	Ig-like 44.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGGAGGCCCGCTGGGCTTT	0.637																																																	0													18	21	20					1																	228496904		1977	4170	6147	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12844C>T	1.37:g.228496904C>T	ENSP00000409493:p.Arg4282Cys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R4282C	ENST00000422127.1	37	c.12844	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145169	0.21288	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.37	4.45	0.53987	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.075610	0.07120	N	0.843699	T	0.63558	0.2521	M	0.62088	1.915	0.09310	N	1	B;B	0.33198	0.141;0.401	B;B	0.18561	0.019;0.022	T	0.52961	-0.8505	10	0.56958	D	0.05	.	11.7834	0.52028	0.0:0.8024:0.1243:0.0733	.	4282;4282	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	4282;4282;1916;1401	ENSP00000284548:R4282C;ENSP00000409493:R4282C;ENSP00000355668:R1916C;ENSP00000355670:R1401C	ENSP00000284548:R4282C	R	+	1	0	OBSCN	226563527	0.605000	0.26941	0.539000	0.28077	0.024000	0.10985	0.937000	0.28951	0.770000	0.33336	-1.134000	0.01955	CGC	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228496904	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.065	T	T	228496904	C	T	228496904	3	4	174	1	0	0	0	0	1	0	0	0	10836	652	23	2	13030	2	OBSCN	1	228496904	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	2442531	228496904	20753717	20	32814										
TARBP1	6894	genome.wustl.edu	37	chr1	234528170	234528170	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gaagcttcttaccccaacaaGagcagagatttctcaggaaa	8	10	2	2	rs377007975		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:234528170G>T	ENST00000040877.1	-	29	4688	c.4689C>A	c.(4687-4689)ctC>ctA	p.L1563L	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1563					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACCCCAACAAGAGCAGAGATT	0.403																																																	0													173	174	174					1																	234528170		2203	4300	6503	SO:0001819	synonymous_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4689C>A	1.37:g.234528170G>T			Q9H581	Silent	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.L1563	ENST00000040877.1	37	c.4689	CCDS1601.1	1																																																																																			TARBP1	-	pfam_SpoU_MeTrfase		0.403	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	G	NM_005646		234528170	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	silent	SNP	0.199	T	T	234528170	G	T	234528170	2	4	174	1	0	0	0	0	0	0	0	1	15585	929	33	3		3	TARBP1	1	234528170	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	6031266	234528170	14722451	21	32815										
NID1	4811	genome.wustl.edu	37	chr1	236205327	236205327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gggaggtccaaggggcctttCggtagctgcccggcgcgggg	20	11	0	0	rs540809930	byFrequency	TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:236205327C>T	ENST00000264187.6	-	4	1100	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	NID1_ENST00000366595.3_Missense_Mutation_p.E340K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	340					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGGGGCCTTTCGGTAGCTGCC	0.592													C|||	4	0.000798722	0	0	5008	,	,		19687	0		0	False		,,,				2504	0.0041																0													65	67	67					1																	236205327		2203	4300	6503	SO:0001583	missense	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1018G>A	1.37:g.236205327C>T	ENSP00000264187:p.Glu340Lys		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E340K	ENST00000264187.6	37	c.1018	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326394	0.41197	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88664	-1.76;-2.41	4.82	2.85	0.33270	.	1.044520	0.07532	N	0.912401	D	0.84674	0.5524	L	0.56769	1.78	0.09310	N	1	P;P	0.51351	0.944;0.491	B;B	0.37239	0.244;0.041	T	0.73392	-0.3997	10	0.36615	T	0.2	.	8.9807	0.35964	0.0:0.7723:0.1469:0.0808	.	340;340	P14543-2;P14543	.;NID1_HUMAN	K	340	ENSP00000264187:E340K;ENSP00000355554:E340K	ENSP00000264187:E340K	E	-	1	0	NID1	234271950	0.047000	0.20315	0.120000	0.21714	0.004000	0.04260	1.479000	0.35453	1.227000	0.43598	0.563000	0.77884	GAA	NID1	-	NULL		0.592	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	C	NM_002508		236205327	-1	no_errors	ENST00000264187	ensembl	human	known	70_37	missense	SNP	0.140	T	T	236205327	C	T	236205327	3	4	174	1	0	0	0	0	1	0	0	0	10438	893	31	1	2793	1	NID1	1	236205327	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	1677157	236205327	13045294	22	32816										
OR2T27	403239	genome.wustl.edu	37	chr1	248813536	248813536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	taatgagaattcttgtgtaaGagcccgagatgacagagaaa	11	5	1	5			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr1:248813536G>C	ENST00000344889.3	-	1	649	c.650C>G	c.(649-651)tCt>tGt	p.S217C		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTGTGTAAGAGCCCGAGAT	0.517																																																	0													34	9	18					1																	248813536		2155	4052	6207	SO:0001583	missense	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.650C>G	1.37:g.248813536G>C	ENSP00000342008:p.Ser217Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S217C	ENST00000344889.3	37	c.650	CCDS31124.1	1	.	.	.	.	.	.	.	.	.	.	.	7.111	0.576103	0.13623	.	.	ENSG00000187701	ENST00000344889	T	0.38722	1.12	3.42	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	N	0.001416	T	0.73087	0.3542	H	0.98370	4.215	0.09310	N	0.999998	D	0.53745	0.962	P	0.57244	0.816	T	0.72782	-0.4189	10	0.87932	D	0	.	14.1834	0.65588	0.0:0.0:1.0:0.0	.	217	Q8NH04	O2T27_HUMAN	C	217	ENSP00000342008:S217C	ENSP00000342008:S217C	S	-	2	0	OR2T27	246880159	1.000000	0.71417	0.061000	0.19648	0.005000	0.04900	6.201000	0.72124	1.921000	0.55644	0.400000	0.26472	TCT	OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	G	NM_001001824		248813536	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	missense	SNP	0.402	C	C	248813536	G	C	248813536	3	2	174	1	0	0	0	0	1	0	0	0	11045	942	33	1	306	1	OR2T27	1	248813536	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	12608209	248813536	437085	23	32817										
ALMS1	7840	genome.wustl.edu	37	chr2	73679354	73679354	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agttcctactcaaatagagaGaaggccagtatttttcatca	7	8	3	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:73679354G>C	ENST00000264448.6	+	8	5808	c.5697G>C	c.(5695-5697)gaG>gaC	p.E1899D	ALMS1_ENST00000377715.1_Missense_Mutation_p.E1899D|ALMS1_ENST00000409009.1_Missense_Mutation_p.E1857D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1899	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAATAGAGAGAAGGCCAGTA	0.428																																																	0													60	60	60					2																	73679354		1879	4095	5974	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5697G>C	2.37:g.73679354G>C	ENSP00000264448:p.Glu1899Asp		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E1899D	ENST00000264448.6	37	c.5697	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603740	0.46423	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.24723	2.74;2.58;1.84	4.08	0.253	0.15551	.	0.846706	0.10073	N	0.719453	T	0.38134	0.1029	M	0.62723	1.935	0.09310	N	1	B;D;B	0.67145	0.234;0.996;0.22	B;P;B	0.62560	0.084;0.904;0.108	T	0.18587	-1.0332	10	0.59425	D	0.04	.	3.7288	0.08485	0.3143:0.1859:0.4998:0.0	.	1899;1857;1899	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	D	1857;1899;1899	ENSP00000386627:E1857D;ENSP00000264448:E1899D;ENSP00000366944:E1899D	ENSP00000264448:E1899D	E	+	3	2	ALMS1	73532862	0.002000	0.14202	0.001000	0.08648	0.792000	0.44763	-0.435000	0.06931	0.037000	0.15575	0.555000	0.69702	GAG	ALMS1	-	NULL		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73679354	1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.002	C	C	73679354	G	C	73679354	3	2	174	1	0	0	0	0	1	0	0	0	535	933	33	1	5727	1	ALMS1	2	73679354	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		73679354	169520019	24	32818										
POLR1A	25885	genome.wustl.edu	37	chr2	86259502	86259502	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttcctcatcaccctcctgctCtccctgtggtttgtgggcaa	8	15	3	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:86259502C>G	ENST00000263857.6	-	29	4543	c.4165G>C	c.(4165-4167)Gag>Cag	p.E1389Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1389Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1389					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCCTCCTGCTCTCCCTGTGGT	0.537																																																	0													141	148	146					2																	86259502		2100	4220	6320	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4165G>C	2.37:g.86259502C>G	ENSP00000263857:p.Glu1389Gln		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.E1389Q	ENST00000263857.6	37	c.4165	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	8.759	0.923045	0.18056	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.67345	-0.26;3.3	4.21	3.32	0.38043	RNA polymerase Rpb1, domain 5 (1);	1.177410	0.05873	N	0.625014	T	0.51007	0.1649	N	0.25332	0.735	0.26734	N	0.97052	B	0.06786	0.001	B	0.10450	0.005	T	0.37709	-0.9694	10	0.15066	T	0.55	-24.0561	6.3892	0.21577	0.0:0.6875:0.0:0.3125	.	1389	O95602	RPA1_HUMAN	Q	1389	ENSP00000263857:E1389Q;ENSP00000386300:E1389Q	ENSP00000263857:E1389Q	E	-	1	0	POLR1A	86113013	0.503000	0.26115	1.000000	0.80357	0.633000	0.38033	1.477000	0.35431	2.311000	0.77944	0.462000	0.41574	GAG	POLR1A	-	pfam_RNA_pol_Rpb1_5		0.537	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86259502	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	0.996	G	G	86259502	C	G	86259502	3	3	174	1	0	0	0	0	1	0	0	0	12233	922	32	1	1021	1	POLR1A	2	86259502	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	12580148	86259502	156939871	25	32819										
POLR1A	25885	genome.wustl.edu	37	chr2	86260836	86260836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gatcccgctgtgtagctcttCgagtgtttacgttcctgaaa	10	10	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:86260836C>T	ENST00000263857.6	-	28	4487	c.4109G>A	c.(4108-4110)cGa>cAa	p.R1370Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1370Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1370					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGTAGCTCTTCGAGTGTTTAC	0.483																																																	0													88	91	90					2																	86260836		1908	4132	6040	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4109G>A	2.37:g.86260836C>T	ENSP00000263857:p.Arg1370Gln		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.R1370Q	ENST00000263857.6	37	c.4109	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354320	0.61293	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.66099	-0.19;-0.19	5.38	5.38	0.77491	RNA polymerase Rpb1, domain 5 (1);	0.122424	0.52532	D	0.000062	T	0.73353	0.3576	L	0.51422	1.61	0.32864	D	0.508281	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.73808	-0.3866	10	0.21014	T	0.42	-15.8204	16.8984	0.86107	0.0:1.0:0.0:0.0	.	736;1370	B7Z8X7;O95602	.;RPA1_HUMAN	Q	1370	ENSP00000263857:R1370Q;ENSP00000386300:R1370Q	ENSP00000263857:R1370Q	R	-	2	0	POLR1A	86114347	0.566000	0.26618	0.081000	0.20488	0.689000	0.40095	2.518000	0.45537	2.518000	0.84900	0.561000	0.74099	CGA	POLR1A	-	pfam_RNA_pol_Rpb1_5		0.483	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86260836	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	0.299	T	T	86260836	C	T	86260836	3	4	174	1	0	0	0	0	1	0	0	0	12233	884	31	1	1081	1	POLR1A	2	86260836	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	1334	86260836	156938537	26	32820										
CCDC74A	90557	genome.wustl.edu	37	chr2	132288365	132288365	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tgcagacagcctctccatgtCaagcttccagtctgtcaagt	8	13	4	1	rs572146128	byFrequency	TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:132288365C>T	ENST00000295171.6	+	3	647	c.509C>T	c.(508-510)tCa>tTa	p.S170L	CCDC74A_ENST00000467992.2_Missense_Mutation_p.S272L|CCDC74A_ENST00000409856.3_Missense_Mutation_p.S104L	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	170										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTCTCCATGTCAAGCTTCCAG	0.642																																																	0													39	56	50					2																	132288365		2193	4294	6487	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.509C>T	2.37:g.132288365C>T	ENSP00000295171:p.Ser170Leu		Q6P4I5	Missense_Mutation	SNP	NULL	p.S170L	ENST00000295171.6	37	c.509	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	4.327	0.060077	0.08339	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.61392	1.53;1.77;0.62;0.11	2.13	-0.0519	0.13824	.	1.266030	0.05915	U	0.632355	T	0.52403	0.1732	M	0.64997	1.995	0.09310	N	1	B;P	0.50528	0.01;0.936	B;P	0.44477	0.006;0.451	T	0.39761	-0.9598	10	0.29301	T	0.29	-2.8574	3.15	0.06484	0.0:0.4981:0.3053:0.1966	.	104;170	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	L	170;104;99;272	ENSP00000295171:S170L;ENSP00000387009:S104L;ENSP00000406839:S99L;ENSP00000444610:S272L	ENSP00000295171:S170L	S	+	2	0	CCDC74A	132004835	0.004000	0.15560	0.001000	0.08648	0.055000	0.15305	0.311000	0.19380	-0.185000	0.10550	0.194000	0.17425	TCA	CCDC74A	-	NULL		0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	C	NM_138770		132288365	1	no_errors	ENST00000295171	ensembl	human	known	70_37	missense	SNP	0.002	T	T	132288365	C	T	132288365	3	4	174	1	0	0	0	0	1	0	0	0	2852	838	29	1	519	1	CCDC74A	2	132288365	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	46027529	132288365	110911008	27	32821										
RIF1	55183	genome.wustl.edu	37	chr2	152320916	152320916	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aacaagatgaaagtaatactGtaatatgtcaggattctaca	7	5	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:152320916G>C	ENST00000243326.5	+	29	5365	c.4882G>C	c.(4882-4884)Gta>Cta	p.V1628L	RIF1_ENST00000453091.2_Missense_Mutation_p.V1628L|RIF1_ENST00000430328.2_Missense_Mutation_p.V1628L|RIF1_ENST00000444746.2_Missense_Mutation_p.V1628L|RIF1_ENST00000428287.2_Missense_Mutation_p.V1628L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGTAATACTGTAATATGTCA	0.318																																																	0													47	47	47					2																	152320916		2203	4300	6503	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4882G>C	2.37:g.152320916G>C	ENSP00000243326:p.Val1628Leu		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.V1628L	ENST00000243326.5	37	c.4882	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	2.267	-0.367810	0.05069	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	5.22	-2.08	0.07254	.	1.852490	0.02592	N	0.100058	T	0.06371	0.0164	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.19706	0.022;0.038	B;B	0.17433	0.008;0.018	T	0.30966	-0.9960	10	0.11485	T	0.65	-0.6505	4.6946	0.12797	0.4004:0.0:0.3268:0.2727	.	1628;1628	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	1628	ENSP00000390181:V1628L;ENSP00000414615:V1628L;ENSP00000415691:V1628L;ENSP00000243326:V1628L;ENSP00000416123:V1628L	ENSP00000243326:V1628L	V	+	1	0	RIF1	152029162	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.179000	0.01259	-0.264000	0.09365	0.508000	0.49915	GTA	RIF1	-	NULL		0.318	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152320916	1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	0.000	C	C	152320916	G	C	152320916	3	2	174	1	0	0	0	0	1	0	0	0	13389	1377	48	4	4996	4	RIF1	2	152320916	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	20032551	152320916	90878457	28	32822										
WIPF1	7456	genome.wustl.edu	37	chr2	175436608	175436608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cctgctgggaggtggcggcgGaggtggggcctgtgaggagg	24	7	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:175436608G>C	ENST00000392547.2	-	5	1024	c.925C>G	c.(925-927)Ccg>Gcg	p.P309A	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.P309A|WIPF1_ENST00000272746.5_Missense_Mutation_p.P309A|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.P309A|WIPF1_ENST00000409415.3_Missense_Mutation_p.P309A|WIPF1_ENST00000392546.2_Missense_Mutation_p.P309A|WIPF1_ENST00000467149.1_5'Flank	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	309	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGTGGCGGCGGAGGTGGGGCC	0.662																																																	0													23	28	26					2																	175436608		2201	4300	6501	SO:0001583	missense	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.925C>G	2.37:g.175436608G>C	ENSP00000376330:p.Pro309Ala		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	smart_WH2_dom,pfscan_WH2_dom	p.P309A	ENST00000392547.2	37	c.925	CCDS2260.1	2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429079	0.25726	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.65178	0.64;0.61;0.64;0.64;-0.14;0.46	3.95	3.95	0.45737	.	0.128414	0.52532	D	0.000077	T	0.61022	0.2314	M	0.80746	2.51	0.80722	D	1	B;B;B;B	0.31931	0.347;0.235;0.347;0.235	B;B;B;B	0.32624	0.149;0.071;0.149;0.071	T	0.62501	-0.6841	10	0.37606	T	0.19	.	9.1321	0.36852	0.1059:0.0:0.8941:0.0	.	309;309;309;309	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	A	309	ENSP00000376330:P309A;ENSP00000272746:P309A;ENSP00000352802:P309A;ENSP00000376329:P309A;ENSP00000386431:P309A;ENSP00000387150:P309A	ENSP00000272746:P309A	P	-	1	0	WIPF1	175144854	0.922000	0.31269	0.074000	0.20217	0.229000	0.25112	3.276000	0.51646	1.939000	0.56221	0.430000	0.28490	CCG	WIPF1	-	NULL		0.662	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	G	NM_003387		175436608	-1	no_errors	ENST00000272746	ensembl	human	known	70_37	missense	SNP	0.714	C	C	175436608	G	C	175436608	3	2	174	1	0	0	0	0	1	0	0	0	17398	1174	41	1	602	1	WIPF1	2	175436608	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	23115692	175436608	67762765	29	32823										
TTN	7273	genome.wustl.edu	37	chr2	179610565	179610565	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ctattggtgcataacagtcaGaaatacctttgataaacctg	7	8	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:179610565G>A	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S5521F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACAGTCAGAAATACCTTT	0.413																																																	0													121	120	120					2																	179610565		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3917C>T	2.37:g.179610565G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S5521F	ENST00000591111.1	37	c.16562		2	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144832	0.57044	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.68903	-0.36	5.94	5.94	0.96194	.	.	.	.	.	T	0.80341	0.4605	M	0.64260	1.97	0.80722	D	1	D	0.67145	0.996	D	0.65010	0.931	T	0.79706	-0.1691	9	0.59425	D	0.04	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	5521	Q8WZ42-6	.	F	5521;802	ENSP00000354117:S5521F	ENSP00000304714:S802F	S	-	2	0	TTN	179318810	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.189000	0.65098	2.816000	0.96949	0.563000	0.77884	TCT	TTN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179610565	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179610565	G	A	179610565	1	1	174	0	1	0	0	0	0	0	0	0	16766	942	33	1		1	TTN	2	179610565	Intron	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	4173957	179610565	63588808	30	32824										
MYO1B	4430	genome.wustl.edu	37	chr2	192255199	192255199	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tttgtaaacaaacatggcctCattggaaaggaccagccagg	10	9	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:192255199C>A	ENST00000392318.3	+	18	2210	c.1963C>A	c.(1963-1965)Cat>Aat	p.H655N	MYO1B_ENST00000392316.1_Missense_Mutation_p.H655N|MYO1B_ENST00000439065.2_5'Flank|MYO1B_ENST00000304164.4_Missense_Mutation_p.H655N|MYO1B_ENST00000339514.4_Missense_Mutation_p.H655N	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	655	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AACATGGCCTCATTGGAAAGG	0.418																																																	0													44	41	42					2																	192255199		2203	4300	6503	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1963C>A	2.37:g.192255199C>A	ENSP00000376132:p.His655Asn		O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.H655N	ENST00000392318.3	37	c.1963	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	C	9.568	1.120196	0.20877	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.44	5.44	0.79542	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	N	0.02345	-0.59	0.80722	D	1	B;B	0.11235	0.003;0.004	B;B	0.15052	0.01;0.012	T	0.68557	-0.5377	10	0.06494	T	0.89	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	655;655	O43795;O43795-2	MYO1B_HUMAN;.	N	655	ENSP00000341903:H655N;ENSP00000376132:H655N;ENSP00000306382:H655N;ENSP00000376130:H655N	ENSP00000306382:H655N	H	+	1	0	MYO1B	191963444	1.000000	0.71417	0.994000	0.49952	0.544000	0.35116	7.647000	0.83462	2.814000	0.96858	0.655000	0.94253	CAT	MYO1B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.418	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	C	NM_012223		192255199	1	no_errors	ENST00000304164	ensembl	human	known	70_37	missense	SNP	1.000	A	A	192255199	C	A	192255199	3	1	174	1	0	0	0	0	1	0	0	0	10092	826	29	3	2029	3	MYO1B	2	192255199	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	12644634	192255199	50944174	31	32825										
ARMC9	80210	genome.wustl.edu	37	chr2	232196514	232196514	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tcctgaaacaggaggaccatGacatcatggaagccgatctg	11	10	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr2:232196514G>A	ENST00000349938.4	+	20	1977	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	595						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGAGGACCATGACATCATGGA	0.547																																																	0													63	61	62					2																	232196514		2203	4300	6503	SO:0001583	missense	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1783G>A	2.37:g.232196514G>A	ENSP00000258417:p.Asp595Asn		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D595N	ENST00000349938.4	37	c.1783	CCDS2484.1	2	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907808	0.72868	.	.	ENSG00000135931	ENST00000349938;ENST00000359743	T	0.23754	1.89	5.64	5.64	0.86602	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	L	0.29908	0.895	0.53688	D	0.999978	P	0.39404	0.672	P	0.46208	0.507	T	0.01378	-1.1370	10	0.39692	T	0.17	-29.0365	17.1912	0.86880	0.0:0.0:1.0:0.0	.	595	Q7Z3E5	ARMC9_HUMAN	N	595	ENSP00000258417:D595N	ENSP00000258417:D595N	D	+	1	0	ARMC9	231904758	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	4.800000	0.62524	2.669000	0.90835	0.462000	0.41574	GAC	ARMC9	-	NULL		0.547	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	G	NM_025139		232196514	1	no_errors	ENST00000349938	ensembl	human	known	70_37	missense	SNP	1.000	A	A	232196514	G	A	232196514	3	1	174	1	0	0	0	0	1	0	0	0	959	1290	45	1	1857	1	ARMC9	2	232196514	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	39941315	232196514	11002859	32	32826										
ZNF619	285267	genome.wustl.edu	37	chr3	40529414	40529414	+	Silent	SNP	C	C	T													0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttcagatggaatgcaagtttCatccagcatcagaagtggca							TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:40529414C>T	ENST00000314686.5	+	6	1770	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	ZNF619_ENST00000447116.2_Silent_p.F511F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.F511F|ZNF619_ENST00000429348.2_Silent_p.F471F|ZNF619_ENST00000522736.1_Silent_p.F462F|ZNF619_ENST00000456778.1_Silent_p.F427F|ZNF619_ENST00000432264.2_Silent_p.F471F			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ATGCAAGTTTCATCCAGCATC	0.498																																																	0													113	94	100					3																	40529414		2203	4300	6503	SO:0001819	synonymous_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1365C>T	3.37:g.40529414C>T			B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F511	ENST00000314686.5	37	c.1533		3																																																																																			ZNF619	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.498	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	C	NM_173656		40529414	1	no_errors	ENST00000447116	ensembl	human	known	70_37	silent	SNP	0.001	T	T	40529414	C	T	40529414	2	4	174	1	0	0	0	0	0	0	0	1	18073	825	29	1		1	ZNF619	3	40529414	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09		40529414	157493016	33	32827	214	2								
ZNF619	285267	genome.wustl.edu	37	chr3	40529424	40529424	+	Nonsense_Mutation	SNP	C	C	T													0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atgcaagtttcatccagcatCagaagtggcatactaggaag							TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:40529424C>T	ENST00000314686.5	+	6	1780	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	ZNF619_ENST00000447116.2_Nonsense_Mutation_p.Q515*|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Nonsense_Mutation_p.Q515*|ZNF619_ENST00000429348.2_Nonsense_Mutation_p.Q475*|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.Q466*|ZNF619_ENST00000456778.1_Nonsense_Mutation_p.Q431*|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.Q475*			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CATCCAGCATCAGAAGTGGCA	0.512																																																	0													117	94	102					3																	40529424		2203	4300	6503	SO:0001587	stop_gained	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1375C>T	3.37:g.40529424C>T	ENSP00000322529:p.Gln459*		B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q515*	ENST00000314686.5	37	c.1543		3	.	.	.	.	.	.	.	.	.	.	C	36	5.725809	0.96847	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.3	2.3	0.28687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.9817	0.24706	0.0:0.7118:0.2882:0.0	.	.	.	.	X	459;515;475;431;96;466;515;475	.	ENSP00000322529:Q459X	Q	+	1	0	ZNF619	40504428	0.913000	0.31002	0.888000	0.34837	0.894000	0.52154	0.437000	0.21543	1.301000	0.44836	0.462000	0.41574	CAG	ZNF619	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	C	NM_173656		40529424	1	no_errors	ENST00000447116	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	40529424	C	T	40529424	4	4	174	1	0	0	0	0	0	1	0	0	18073	827	29	1	1583	1	ZNF619	3	40529424	Nonsense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	10	40529424	157493006	34	32828	214	2								
RAD54L2	23132	genome.wustl.edu	37	chr3	51669640	51669640	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ctcgtgctaaagtgatggctGattgggtgtcagagggtggc	17	6	1	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:51669640G>T	ENST00000409535.2	+	9	1299	c.1174G>T	c.(1174-1176)Gat>Tat	p.D392Y	RAD54L2_ENST00000296477.3_Missense_Mutation_p.D86Y	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	392	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGTGATGGCTGATTGGGTGTC	0.453																																																	0													132	117	122					3																	51669640		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1174G>T	3.37:g.51669640G>T	ENSP00000386520:p.Asp392Tyr		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D392Y	ENST00000409535.2	37	c.1174	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.006808|5.006808	0.93287|0.93287	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.93189|.	-3.18;-3.18|.	5.54|5.54	5.54|5.54	0.83059|0.83059	DEAD-like helicase (2);SNF2-related (1);|.	0.135681|.	0.64402|.	D|.	0.000003|.	T|.	0.70263|.	0.3204|.	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	P|.	0.42993|.	0.797|.	P|.	0.54174|.	0.744|.	T|.	0.66578|.	-0.5888|.	10|.	0.72032|.	D|.	0.01|.	-2.003|-2.003	18.4549|18.4549	0.90717|0.90717	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	392|.	Q9Y4B4|.	ARIP4_HUMAN|.	Y|L	392;86|220	ENSP00000386520:D392Y;ENSP00000296477:D86Y|.	ENSP00000296477:D86Y|.	D|X	+|+	1|2	0|2	RAD54L2|RAD54L2	51644680|51644680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.781000|9.781000	0.99029|0.99029	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GAT|TGA	RAD54L2	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.453	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	G	NM_015106		51669640	1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51669640	G	T	51669640	3	4	174	1	0	0	0	0	1	0	0	0	13024	1290	45	3	1204	3	RAD54L2	3	51669640	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	11140216	51669640	146352790	35	32829										
WDR82	80335	genome.wustl.edu	37	chr3	52312323	52312323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gttaatcttgtccgagttttCgcggaacaccttagcgacgc	10	11	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:52312323C>T	ENST00000296490.3	-	1	336	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	19					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TCCGAGTTTTCGCGGAACACC	0.637																																																	0													56	48	50					3																	52312323		2055	4196	6251	SO:0001583	missense	80335			AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"WD repeat domain containing"	28826	protein-coding gene	gene with protein product		611059	"transmembrane protein 113"	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.55G>A	3.37:g.52312323C>T	ENSP00000296490:p.Glu19Lys		A8K5R5|Q8TEB2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E19K	ENST00000296490.3	37	c.55	CCDS2851.2	3	.	.	.	.	.	.	.	.	.	.	C	32	5.113234	0.94339	.	.	ENSG00000164091	ENST00000296490	T	0.60797	0.16	4.05	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052645	0.85682	N	0.000000	T	0.51550	0.1681	L	0.45698	1.435	0.80722	D	1	B	0.16802	0.019	B	0.16289	0.015	T	0.51896	-0.8647	10	0.40728	T	0.16	.	15.9516	0.79843	0.0:1.0:0.0:0.0	.	19	Q6UXN9	WDR82_HUMAN	K	19	ENSP00000296490:E19K	ENSP00000296490:E19K	E	-	1	0	WDR82	52287363	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.894000	0.75655	2.068000	0.61886	0.462000	0.41574	GAA	WDR82	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.637	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR82	HGNC	protein_coding	OTTHUMT00000317919.1	C	NM_025222		52312323	-1	no_errors	ENST00000296490	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52312323	C	T	52312323	3	4	174	1	0	0	0	0	1	0	0	0	17362	893	31	1	922	1	WDR82	3	52312323	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	642683	52312323	145710107	36	32830										
SLMAP	7871	genome.wustl.edu	37	chr3	57857404	57857404	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gcggggactgcacttttattCatcaattcatagaatgccag	9	9	3	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:57857404C>T	ENST00000428312.1	+	12	1322	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.H393Y|SLMAP_ENST00000383718.3_Intron|SLMAP_ENST00000295951.3_Missense_Mutation_p.H393Y|SLMAP_ENST00000449503.2_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	410					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CACTTTTATTCATCAATTCAT	0.358																																																	0													80	84	82					3																	57857404		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1228C>T	3.37:g.57857404C>T	ENSP00000398661:p.His410Tyr		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.H410Y	ENST00000428312.1	37	c.1228		3	.	.	.	.	.	.	.	.	.	.	C	17.87	3.496053	0.64186	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000428312;ENST00000465203	T;T;T	0.31769	1.5;1.5;1.48	4.85	4.85	0.62838	.	0.119433	0.56097	D	0.000023	T	0.27866	0.0686	L	0.40543	1.245	0.80722	D	1	B;B	0.31730	0.337;0.118	B;B	0.28784	0.04;0.094	T	0.11131	-1.0600	10	0.62326	D	0.03	-5.061	16.5278	0.84336	0.0:1.0:0.0:0.0	.	410;393	Q14BN4;Q14BN4-3	SLMAP_HUMAN;.	Y	393;393;410;117	ENSP00000295951:H393Y;ENSP00000295952:H393Y;ENSP00000398661:H410Y	ENSP00000295951:H393Y	H	+	1	0	SLMAP	57832444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.750000	0.74888	2.406000	0.81754	0.555000	0.69702	CAT	SLMAP	-	NULL		0.358	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	C	NM_007159		57857404	1	no_errors	ENST00000428312	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57857404	C	T	57857404	3	4	174	1	0	0	0	0	1	0	0	0	14779	826	29	1	1219	1	SLMAP	3	57857404	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	5545081	57857404	140165026	37	32831										
FLNB	2317	genome.wustl.edu	37	chr3	58116576	58116576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ccgtgtcctgcagtccttcaCggtggacagcagcaaggctg	13	13	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:58116576C>T	ENST00000295956.4	+	25	4496	c.4331C>T	c.(4330-4332)aCg>aTg	p.T1444M	FLNB_ENST00000419752.2_Missense_Mutation_p.T1275M|FLNB_ENST00000429972.2_Missense_Mutation_p.T1444M|FLNB_ENST00000490882.1_Missense_Mutation_p.T1444M|FLNB_ENST00000493452.1_Missense_Mutation_p.T1275M|FLNB_ENST00000358537.3_Missense_Mutation_p.T1444M|FLNB_ENST00000357272.4_Missense_Mutation_p.T1444M|FLNB_ENST00000348383.5_Missense_Mutation_p.T1444M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1444	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGTCCTTCACGGTGGACAGC	0.632																																																	0													32	31	31					3																	58116576		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4331C>T	3.37:g.58116576C>T	ENSP00000295956:p.Thr1444Met		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.T1444M	ENST00000295956.4	37	c.4331	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228145	0.79576	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.42	5.42	0.78866	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93174	0.7826	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;0.977;1.0;0.952;1.0;1.0	D	0.93829	0.7126	10	0.87932	D	0	.	19.2155	0.93776	0.0:1.0:0.0:0.0	.	1444;1444;1275;1275;1444;1444	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	M	1444;1444;1444;1444;1444;1444;1275;1275	ENSP00000295956:T1444M;ENSP00000420213:T1444M;ENSP00000351339:T1444M;ENSP00000415599:T1444M;ENSP00000232447:T1444M;ENSP00000349819:T1444M;ENSP00000418510:T1275M;ENSP00000414532:T1275M	ENSP00000295956:T1444M	T	+	2	0	FLNB	58091616	1.000000	0.71417	0.813000	0.32504	0.561000	0.35649	7.818000	0.86416	2.553000	0.86117	0.655000	0.94253	ACG	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.632	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	C	NM_001457		58116576	1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58116576	C	T	58116576	3	4	174	1	0	0	0	0	1	0	0	0	5952	536	19	2	4429	2	FLNB	3	58116576	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	259172	58116576	139905854	38	32832										
COL8A1	1295	genome.wustl.edu	37	chr3	99514614	99514614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gcatttaccgccgagctaacCgcacctttcccaccggtggg	10	16	0	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:99514614C>T	ENST00000261037.3	+	5	2249	c.1869C>T	c.(1867-1869)acC>acT	p.T623T	COL8A1_ENST00000273342.4_Silent_p.T623T	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	623	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CCGAGCTAACCGCACCTTTCC	0.557																																																	0													50	53	52					3																	99514614		2203	4300	6503	SO:0001819	synonymous_variant	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1869C>T	3.37:g.99514614C>T			D3DN42|Q53XI6|Q96D07	Silent	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.T623	ENST00000261037.3	37	c.1869	CCDS2934.1	3																																																																																			COL8A1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.557	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	C	NM_001850		99514614	1	no_errors	ENST00000261037	ensembl	human	known	70_37	silent	SNP	0.001	T	T	99514614	C	T	99514614	2	4	174	1	0	0	0	0	0	0	0	1	3710	639	23	2		2	COL8A1	3	99514614	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	41398038	99514614	98507816	39	32833										
NR1I2	8856	genome.wustl.edu	37	chr3	119531560	119531560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gggtgcttagcagtggctgcGagttgccagagtctctgcag	16	9	1	1	rs373870063		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:119531560G>A	ENST00000337940.4	+	5	712	c.664G>A	c.(664-666)Gag>Aag	p.E222K	NR1I2_ENST00000466380.1_Intron|NR1I2_ENST00000393716.2_Missense_Mutation_p.E183K	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	183	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CAGTGGCTGCGAGTTGCCAGA	0.587																																																	0								G	LYS/GLU,LYS/GLU,	0,4406		0,0,2203	90	96	94		547,664,	2.4	0	3		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	NR1I2	NM_003889.3,NM_022002.2,NM_033013.2	56,56,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,	183/435,222/474,	119531560	1,13005	2203	4300	6503	SO:0001583	missense	8856			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.664G>A	3.37:g.119531560G>A	ENSP00000336528:p.Glu222Lys		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E222K	ENST00000337940.4	37	c.664	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755849	0.31046	0.0	1.16E-4	ENSG00000144852	ENST00000393716;ENST00000337940	D;D	0.95205	-3.64;-3.64	4.18	2.36	0.29203	Nuclear hormone receptor, ligand-binding (1);	0.699707	0.13405	N	0.390312	D	0.89532	0.6742	M	0.70595	2.14	0.09310	N	1	P;P	0.50528	0.936;0.886	B;B	0.32465	0.124;0.146	T	0.79688	-0.1699	10	0.22706	T	0.39	.	5.716	0.17960	0.1089:0.1978:0.6933:0.0	.	183;222	O75469;F1D8P9	NR1I2_HUMAN;.	K	183;222	ENSP00000377319:E183K;ENSP00000336528:E222K	ENSP00000336528:E222K	E	+	1	0	NR1I2	121014250	0.128000	0.22383	0.002000	0.10522	0.070000	0.16714	1.318000	0.33643	0.413000	0.25759	0.491000	0.48974	GAG	NR1I2	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.587	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	G			119531560	1	no_errors	ENST00000337940	ensembl	human	known	70_37	missense	SNP	0.008	A	A	119531560	G	A	119531560	3	1	174	1	0	0	0	0	1	0	0	0	10644	1059	37	1	682	1	NR1I2	3	119531560	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	20016946	119531560	78490870	40	32834										
DTX3L	151636	genome.wustl.edu	37	chr3	122284856	122284856	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atcacaagcagaaacaccgtCtggtgatatgcatcaacatg	8	10	3	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:122284856C>T	ENST00000296161.4	+	2	527	c.338C>T	c.(337-339)tCt>tTt	p.S113F	PARP9_ENST00000471785.1_5'Flank|PARP9_ENST00000360356.2_5'Flank|DTX3L_ENST00000383661.3_Missense_Mutation_p.S113F|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000477522.2_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	113					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAAACACCGTCTGGTGATATG	0.443																																																	0													105	93	97					3																	122284856		2203	4300	6503	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.338C>T	3.37:g.122284856C>T	ENSP00000296161:p.Ser113Phe		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S113F	ENST00000296161.4	37	c.338	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	C	1.157	-0.645084	0.03531	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.33216	1.42;1.85	4.9	-0.182	0.13287	.	1.517640	0.04147	N	0.320614	T	0.21801	0.0525	L	0.31926	0.97	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.14023	0.01;0.001	T	0.28522	-1.0041	10	0.62326	D	0.03	-20.8373	1.0302	0.01536	0.3009:0.364:0.1569:0.1782	.	113;113	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	F	113	ENSP00000296161:S113F;ENSP00000373157:S113F	ENSP00000296161:S113F	S	+	2	0	DTX3L	123767546	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.389000	0.07342	-0.220000	0.09988	-0.148000	0.13756	TCT	DTX3L	-	NULL		0.443	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	C	NM_138287		122284856	1	no_errors	ENST00000296161	ensembl	human	known	70_37	missense	SNP	0.000	T	T	122284856	C	T	122284856	3	4	174	1	0	0	0	0	1	0	0	0	4806	913	32	1	344	1	DTX3L	3	122284856	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	2753296	122284856	75737574	41	32835										
RAB43	339122	genome.wustl.edu	37	chr3	128810189	128810189	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cgctgaggtctgacttgttcCctgcggaggaaagccggggc	16	11	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:128810189C>A	ENST00000315150.5	-	3	689	c.389G>T	c.(388-390)gGg>gTg	p.G130V	RAB43_ENST00000393304.1_Splice_Site_p.G130V|RAB43_ENST00000476465.1_3'UTR|RAB43_ENST00000393307.1_Splice_Site_p.G130V|RAB43_ENST00000393305.1_Splice_Site_p.G130V|RAB43_ENST00000393308.1_Splice_Site_p.G130V|ISY1-RAB43_ENST00000418265.1_3'UTR	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	130					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						TGACTTGTTCCCTGCGGAGGA	0.637																																																	0													31	29	30					3																	128810189		2203	4300	6503	SO:0001630	splice_region_variant	339122			AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"RAB, member RAS oncogene"	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.389-1G>T	3.37:g.128810189C>A			A8K4P9|E9PBQ0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G130V	ENST00000315150.5	37	c.389	CCDS33850.1	3	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609137	0.66558	.	.	ENSG00000172780	ENST00000315150;ENST00000393304;ENST00000393308;ENST00000393307;ENST00000393305	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	4.98	4.98	0.66077	Small GTP-binding protein domain (1);	.	.	.	.	D	0.95146	0.8427	H	0.98446	4.235	0.80722	D	1	D	0.65815	0.995	D	0.63957	0.92	D	0.97008	0.9734	9	0.87932	D	0	.	16.0867	0.81060	0.0:1.0:0.0:0.0	.	130	Q86YS6	RAB43_HUMAN	V	130	ENSP00000319781:G130V;ENSP00000376981:G130V;ENSP00000376985:G130V;ENSP00000376984:G130V;ENSP00000376982:G130V	ENSP00000319781:G130V	G	-	2	0	RAB43	130292879	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	7.709000	0.84645	2.466000	0.83321	0.491000	0.48974	GGG	RAB43	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.637	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB43	HGNC	protein_coding	OTTHUMT00000267849.1	C	XM_290714	Missense_Mutation	128810189	-1	no_errors	ENST00000315150	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128810189	C	A	128810189	5	1	174	1	0	0	0	0	0	0	1	0	12975	637	22	4	253	4	RAB43	3	128810189	Splice_Site	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	6525333	128810189	69212241	42	32836										
IFT122	55764	genome.wustl.edu	37	chr3	129200485	129200485	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gaagctggccgtggtagatgAaaatgacacttgcctggtgt	14	7	0	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:129200485A>T	ENST00000348417.2	+	14	1678	c.1601A>T	c.(1600-1602)gAa>gTa	p.E534V	IFT122_ENST00000347300.2_Missense_Mutation_p.E475V|IFT122_ENST00000504021.1_Missense_Mutation_p.E428V|IFT122_ENST00000440957.2_Missense_Mutation_p.E325V|IFT122_ENST00000296266.3_Missense_Mutation_p.E585V|IFT122_ENST00000431818.2_Missense_Mutation_p.E384V|IFT122_ENST00000349441.2_Missense_Mutation_p.E423V|IFT122_ENST00000507564.1_Missense_Mutation_p.E526V	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	534					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTGGTAGATGAAAATGACACT	0.527																																																	0													40	41	41					3																	129200485		2203	4297	6500	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1601A>T	3.37:g.129200485A>T	ENSP00000324005:p.Glu534Val		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E585V	ENST00000348417.2	37	c.1754	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887950	0.91814	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522	T;T;T;T;T;T;T;T;T	0.39997	1.65;1.05;1.05;1.65;1.65;1.65;1.05;1.65;1.65	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.102621	0.64402	D	0.000003	T	0.68742	0.3034	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.993;0.991;0.985;0.985;0.991;0.999;1.0	D;D;D;P;P;D;D;D	0.83275	0.996;0.977;0.924;0.866;0.866;0.937;0.991;0.996	T	0.74962	-0.3485	10	0.87932	D	0	-29.2827	15.6075	0.76685	1.0:0.0:0.0:0.0	.	325;526;428;374;423;475;534;585	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;IF122_HUMAN;.	V	475;585;526;475;384;428;423;534;374;325;49	ENSP00000323973:E475V;ENSP00000296266:E585V;ENSP00000425536:E526V;ENSP00000410946:E384V;ENSP00000422179:E428V;ENSP00000324165:E423V;ENSP00000324005:E534V;ENSP00000401569:E325V;ENSP00000424727:E49V	ENSP00000296266:E585V	E	+	2	0	IFT122	130683175	1.000000	0.71417	0.712000	0.30502	0.984000	0.73092	8.628000	0.90979	2.064000	0.61679	0.477000	0.44152	GAA	IFT122	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	A	NM_018262		129200485	1	no_errors	ENST00000296266	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129200485	A	T	129200485	3	4	174	1	0	0	0	0	1	0	0	0	7575	246	9	5	1812	5	IFT122	3	129200485	Missense_Mutation	SNP	A	TCGA-MU-A51Y-01A-11D-A26G-09	390296	129200485	68821945	43	32837										
ZBTB38	253461	genome.wustl.edu	37	chr3	141161785	141161785	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atgttttccccgctggacttGagggcaagtttcaaaaaggt	11	8	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:141161785G>C	ENST00000514251.1	+	4	834	c.555G>C	c.(553-555)ttG>ttC	p.L185F	ZBTB38_ENST00000321464.5_Missense_Mutation_p.L186F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.L185F					zinc finger and BTB domain containing 38									p.L185F(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CGCTGGACTTGAGGGCAAGTT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											90	85	86					3																	141161785		1967	4150	6117	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.555G>C	3.37:g.141161785G>C	ENSP00000426387:p.Leu185Phe			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L186F	ENST00000514251.1	37	c.558	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872284	0.51695	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464;ENST00000510726	T;T;T;T;T	0.80304	3.2;2.78;2.78;2.78;-1.36	5.42	3.57	0.40892	.	0.176412	0.37437	N	0.002084	T	0.75034	0.3795	L	0.32530	0.975	0.38463	D	0.947265	D;D	0.53312	0.959;0.959	P;P	0.49085	0.6;0.6	T	0.74884	-0.3512	9	.	.	.	-13.6018	11.1471	0.48436	0.0688:0.2412:0.69:0.0	.	186;185	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	F	185;185;185;186;185	ENSP00000424254:L185F;ENSP00000426387:L185F;ENSP00000406955:L185F;ENSP00000372635:L186F;ENSP00000422081:L185F	.	L	+	3	2	ZBTB38	142644475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.083000	0.41615	1.389000	0.46526	0.591000	0.81541	TTG	ZBTB38	-	NULL		0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141161785	1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	1.000	C	C	141161785	G	C	141161785	3	2	174	1	0	0	0	0	1	0	0	0	17569	1281	45	1	557	1	ZBTB38	3	141161785	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	11961300	141161785	56860645	44	32838										
FAM194A	131831	genome.wustl.edu	37	chr3	150396312	150396312	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tggaatatccacagaaagttGataagaaattgtttttaagc	8	4	0	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:150396312G>A	ENST00000295910.6	-	10	1193	c.1141C>T	c.(1141-1143)Caa>Taa	p.Q381*	FAM194A_ENST00000491361.1_Nonsense_Mutation_p.Q235*	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACAGAAAGTTGATAAGAAATT	0.279																																																	0													59	57	58					3																	150396312		2201	4290	6491	SO:0001587	stop_gained	131831																														ENST00000295910.6:c.1141C>T	3.37:g.150396312G>A	ENSP00000295910:p.Gln381*			Nonsense_Mutation	SNP	NULL	p.Q381*	ENST00000295910.6	37	c.1141	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	G	37	6.399393	0.97537	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	.	.	.	3.85	3.85	0.44370	.	0.495246	0.17058	N	0.188641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-15.0493	15.0213	0.71632	0.0:0.0:1.0:0.0	.	.	.	.	X	381;235;339	.	ENSP00000295910:Q381X	Q	-	1	0	FAM194A	151879002	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.923000	0.48868	2.130000	0.65690	0.557000	0.71058	CAA	FAM194A	-	NULL		0.279	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	G			150396312	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	150396312	G	A	150396312	4	1	174	1	0	0	0	0	0	1	0	0	5541	1299	45	1	870	1	FAM194A	3	150396312	Nonsense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	9234527	150396312	47626118	45	32839										
SMC4	10051	genome.wustl.edu	37	chr3	160131375	160131375	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tcaaatgaaatgaaagctaaGaataaagatgtaaaagatac	7	3	1	5			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:160131375G>C	ENST00000357388.3	+	8	1546	c.1095G>C	c.(1093-1095)aaG>aaC	p.K365N	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.K365N|SMC4_ENST00000360111.2_Missense_Mutation_p.K365N|SMC4_ENST00000469762.1_Missense_Mutation_p.K340N|SMC4_ENST00000344722.5_Missense_Mutation_p.K365N	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	365					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAAAGCTAAGAATAAAGATG	0.239																																																	0													28	28	28					3																	160131375		2154	4266	6420	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1095G>C	3.37:g.160131375G>C	ENSP00000349961:p.Lys365Asn		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.K365N	ENST00000357388.3	37	c.1095	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711569	0.68730	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000392788;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000344722	T;T;T;T;T;T	0.75589	-0.94;-0.95;-0.93;3.23;-0.95;-0.94	5.7	0.419	0.16438	RecF/RecN/SMC (1);	0.042614	0.85682	D	0.000000	D	0.83603	0.5290	M	0.86178	2.8	0.51233	D	0.999912	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.87578	0.982;0.998;0.966	T	0.80259	-0.1457	10	0.20046	T	0.44	-22.8244	10.8157	0.46573	0.3157:0.0:0.6843:0.0	.	365;340;365	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	N	365;365;365;340;365;365;365	ENSP00000349961:K365N;ENSP00000353225:K365N;ENSP00000417964:K340N;ENSP00000420121:K365N;ENSP00000420734:K365N;ENSP00000341382:K365N	ENSP00000341382:K365N	K	+	3	2	SMC4	161614069	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.795000	0.38784	0.030000	0.15379	-0.145000	0.13849	AAG	SMC4	-	pfam_RecF/RecN/SMC		0.239	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160131375	1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160131375	G	C	160131375	3	2	174	1	0	0	0	0	1	0	0	0	14815	933	33	1	1121	1	SMC4	3	160131375	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	9735063	160131375	37891055	46	32840										
BCHE	590	genome.wustl.edu	37	chr3	165504083	165504083	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ccagcttgtgctattgttctGagtctcatttggattcctaa	8	9	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:165504083G>C	ENST00000264381.3	-	3	1700	c.1534C>G	c.(1534-1536)Cag>Gag	p.Q512E	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	512					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CTATTGTTCTGAGTCTCATTT	0.308																																																	0													111	101	105					3																	165504083		2203	4300	6503	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1534C>G	3.37:g.165504083G>C	ENSP00000264381:p.Gln512Glu		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.Q512E	ENST00000264381.3	37	c.1534	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.371267	0.01225	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000488954	T;D;D	0.95103	-0.21;-3.61;-3.61	5.48	5.48	0.80851	Carboxylesterase, type B (1);	0.422890	0.27016	N	0.021351	D	0.88108	0.6348	N	0.17379	0.485	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.82971	-0.0192	10	0.02654	T	1	.	18.3458	0.90321	0.0:0.0:1.0:0.0	.	512	P06276	CHLE_HUMAN	E	512;42;42	ENSP00000264381:Q512E;ENSP00000418325:Q42E;ENSP00000418504:Q42E	ENSP00000264381:Q512E	Q	-	1	0	BCHE	166986777	1.000000	0.71417	0.713000	0.30519	0.251000	0.25915	2.632000	0.46511	2.589000	0.87451	0.655000	0.94253	CAG	BCHE	-	pfam_CarbesteraseB		0.308	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	G			165504083	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	missense	SNP	0.950	C	C	165504083	G	C	165504083	3	2	174	1	0	0	0	0	1	0	0	0	1359	1299	45	1	282	1	BCHE	3	165504083	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	5372708	165504083	32518347	47	32841										
HTR3E	285242	genome.wustl.edu	37	chr3	183821990	183821990	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtttgggataacccatttatCagctggaacccagaggaatg	11	8	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr3:183821990C>T	ENST00000415389.2	+	4	766	c.300C>T	c.(298-300)atC>atT	p.I100I	HTR3E_ENST00000335304.2_Silent_p.I115I|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Silent_p.I85I|HTR3E_ENST00000436361.2_Silent_p.I100I|HTR3E_ENST00000440596.2_Silent_p.I100I	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	100					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.I115I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	ACCCATTTATCAGCTGGAACC	0.433																																					Melanoma(7;227 727 6634 44770)												1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											57	50	52					3																	183821990		2203	4300	6503	SO:0001819	synonymous_variant	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.300C>T	3.37:g.183821990C>T			A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.I115	ENST00000415389.2	37	c.345	CCDS58868.1	3																																																																																			HTR3E	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel		0.433	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	C	NM_182589		183821990	1	no_errors	ENST00000335304	ensembl	human	known	70_37	silent	SNP	0.705	T	T	183821990	C	T	183821990	2	4	174	1	0	0	0	0	0	0	0	1	7468	816	29	1		1	HTR3E	3	183821990	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	18317907	183821990	14200440	48	32842										
PDE6B	5158	genome.wustl.edu	37	chr4	661666	661666	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agttctctcgtttccacgaaGagatcctgcccatgttcgac	8	13	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:661666G>T	ENST00000496514.1	+	21	2395	c.2374G>T	c.(2374-2376)Gag>Tag	p.E792*	PDE6B_ENST00000429163.2_Nonsense_Mutation_p.E513*|PDE6B_ENST00000255622.6_Nonsense_Mutation_p.E792*			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	792					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TTTCCACGAAGAGATCCTGCC	0.547																																					GBM(71;463 1194 9848 25922 46834)												0													173	170	171					4																	661666		2203	4300	6503	SO:0001587	stop_gained	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2374G>T	4.37:g.661666G>T	ENSP00000420295:p.Glu792*		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E792*	ENST00000496514.1	37	c.2374	CCDS33932.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	40|40	8.356812|8.356812	0.98774|0.98774	.|.	.|.	ENSG00000133256|ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163|ENST00000461490	.|.	.|.	.|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.053209|.	0.64402|.	D|.	0.000001|.	.|T	.|0.66257	.|0.2771	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70941	.|-0.4735	.|3	0.22109|.	T|.	0.4|.	.|.	15.4686|15.4686	0.75422|0.75422	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	792;792;513|72	.|.	ENSP00000255622:E792X|.	E|K	+|+	1|3	0|2	PDE6B|PDE6B	651666|651666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.138000|3.138000	0.50570|0.50570	2.324000|2.324000	0.78689|0.78689	0.651000|0.651000	0.88453|0.88453	GAG|AAG	PDE6B	-	pfam_PDEase_catalytic_dom		0.547	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	G	NM_000283		661666	1	no_errors	ENST00000496514	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	661666	G	T	661666	4	4	174	1	0	0	0	0	0	1	0	0	11670	943	33	3	2456	3	PDE6B	4	661666	Nonsense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		661666	190492610	49	32843										
FGFRL1	53834	genome.wustl.edu	37	chr4	1018776	1018776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tggtcatcggcatcccagccGgcgctgtcttcatcctgggc	12	15	3	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:1018776G>A	ENST00000398484.2	+	8	1736	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	FGFRL1_ENST00000510644.1_Missense_Mutation_p.G386S|FGFRL1_ENST00000264748.6_Missense_Mutation_p.G386S|FGFRL1_ENST00000504138.1_Missense_Mutation_p.G386S|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	386					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CATCCCAGCCGGCGCTGTCTT	0.701																																																	0													24	29	27					4																	1018776		2199	4296	6495	SO:0001583	missense	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1156G>A	4.37:g.1018776G>A	ENSP00000381498:p.Gly386Ser		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G386S	ENST00000398484.2	37	c.1156	CCDS3344.1	4	.	.	.	.	.	.	.	.	.	.	g	25.5	4.646368	0.87958	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.88	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	L	0.58810	1.83	0.80722	D	1	D	0.61080	0.989	P	0.51453	0.67	T	0.67090	-0.5758	10	0.13108	T	0.6	-24.0207	12.29	0.54812	0.0824:0.0:0.9176:0.0	.	386	Q8N441	FGRL1_HUMAN	S	386;356;386;386;386	ENSP00000381498:G386S;ENSP00000425025:G386S;ENSP00000423091:G386S;ENSP00000264748:G386S	ENSP00000264748:G386S	G	+	1	0	FGFRL1	1008776	1.000000	0.71417	0.141000	0.22245	0.622000	0.37654	4.506000	0.60428	1.076000	0.40961	0.651000	0.88453	GGC	FGFRL1	-	NULL		0.701	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	G	NM_021923		1018776	1	no_errors	ENST00000264748	ensembl	human	known	70_37	missense	SNP	0.997	A	A	1018776	G	A	1018776	3	1	174	1	0	0	0	0	1	0	0	0	5887	1116	39	2	1178	2	FGFRL1	4	1018776	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	357110	1018776	190135500	50	32844										
PPP2R2C	5522	genome.wustl.edu	37	chr4	6374374	6374374	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	taggtgtggccattggcaaaGatcctccgagggctcacctc	12	12	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:6374374G>C	ENST00000382599.4	-	5	717	c.501C>G	c.(499-501)atC>atG	p.I167M	PPP2R2C_ENST00000335585.5_Missense_Mutation_p.I167M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I150M|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I160M|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I160M			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	167					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.I167I(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CATTGGCAAAGATCCTCCGAG	0.592																																																	1	Substitution - coding silent(1)	ovary(1)											213	176	188					4																	6374374		2203	4300	6503	SO:0001583	missense	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.501C>G	4.37:g.6374374G>C	ENSP00000372042:p.Ile167Met		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.I167M	ENST00000382599.4	37	c.501		4	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047967	0.55110	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.15	3.28	0.37604	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.259965	0.37053	N	0.002265	T	0.40595	0.1123	M	0.75884	2.315	0.38793	D	0.955028	B;B;B;B;P	0.37985	0.217;0.282;0.038;0.217;0.613	P;B;B;B;P	0.44897	0.463;0.192;0.114;0.339;0.463	T	0.47018	-0.9149	10	0.66056	D	0.02	-27.6013	10.6999	0.45920	0.0:0.0:0.6542:0.3458	.	160;263;167;150;167	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	M	167;160;150;167;160	ENSP00000335083:I167M;ENSP00000423649:I160M;ENSP00000422374:I150M;ENSP00000372042:I167M;ENSP00000425247:I160M	ENSP00000335083:I167M	I	-	3	3	PPP2R2C	6425275	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.990000	0.29642	1.059000	0.40554	0.313000	0.20887	ATC	PPP2R2C	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55		0.592	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	HGNC	protein_coding	OTTHUMT00000206889.2	G	NM_181876		6374374	-1	no_errors	ENST00000335585	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6374374	G	C	6374374	3	2	174	1	0	0	0	0	1	0	0	0	12413	932	33	1	862	1	PPP2R2C	4	6374374	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	5355598	6374374	184779902	51	32845										
AFF1	4299	genome.wustl.edu	37	chr4	87967934	87967934	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agttccttagtactaagtctCacactcatcgcctggatgct	7	12	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:87967934C>G	ENST00000307808.6	+	3	646	c.226C>G	c.(226-228)Cac>Gac	p.H76D	AFF1_ENST00000395146.4_Missense_Mutation_p.H83D|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	76					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TACTAAGTCTCACACTCATCG	0.438																																																	0													199	202	201					4																	87967934		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.226C>G	4.37:g.87967934C>G	ENSP00000305689:p.His76Asp		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.H83D	ENST00000307808.6	37	c.247	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868747	0.17322	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000511442;ENST00000307808	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.5	2.8	0.32819	.	0.465366	0.23077	N	0.052196	T	0.66218	0.2767	M	0.71581	2.175	0.09310	N	1	D;B;P;D;P;D	0.60575	0.988;0.302;0.642;0.963;0.939;0.988	P;B;B;P;P;P	0.57468	0.821;0.121;0.253;0.651;0.651;0.821	T	0.55560	-0.8122	10	0.31617	T	0.26	-5.0444	3.1862	0.06602	0.1221:0.5593:0.1184:0.2003	.	83;83;17;76;76;83	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	D	83;83;83;83;17;76	ENSP00000378578:H83D;ENSP00000427593:H83D;ENSP00000424483:H83D;ENSP00000425755:H17D;ENSP00000305689:H76D	ENSP00000305689:H76D	H	+	1	0	AFF1	88186958	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.288000	0.18939	0.357000	0.24183	-0.150000	0.13652	CAC	AFF1	-	pfam_TF_AF4/FMR2		0.438	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	C	NM_005935		87967934	1	no_errors	ENST00000395146	ensembl	human	known	70_37	missense	SNP	0.000	G	G	87967934	C	G	87967934	3	3	174	1	0	0	0	0	1	0	0	0	356	826	29	1	278	1	AFF1	4	87967934	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	81593560	87967934	103186342	52	32846										
BBS7	55212	genome.wustl.edu	37	chr4	122754426	122754426	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tgtatctagaaaggtgttctGaaagtaaaatgtcacacatt	8	5	3	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:122754426G>A	ENST00000264499.4	-	15	1819	c.1636C>T	c.(1636-1638)Cag>Tag	p.Q546*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.Q546*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	546					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAGGTGTTCTGAAAGTAAAAT	0.378									Bardet-Biedl syndrome																																								0													71	72	72					4																	122754426		2203	4300	6503	SO:0001587	stop_gained	55212	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1636C>T	4.37:g.122754426G>A	ENSP00000264499:p.Gln546*		Q4W5P8|Q8N581|Q9NVI4	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.Q546*	ENST00000264499.4	37	c.1636	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.423634	0.98275	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	.	.	.	5.77	5.77	0.91146	.	0.276082	0.40554	N	0.001072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-9.6024	14.7783	0.69746	0.0:0.0:0.8557:0.1443	.	.	.	.	X	546	.	ENSP00000264499:Q546X	Q	-	1	0	BBS7	122973876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.295000	0.65692	2.724000	0.93272	0.650000	0.86243	CAG	BBS7	-	pirsf_Bardet-Biedl_syndrome_7_prot		0.378	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	G			122754426	-1	no_errors	ENST00000264499	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	122754426	G	A	122754426	4	1	174	1	0	0	0	0	0	1	0	0	1342	1299	45	1	536	1	BBS7	4	122754426	Nonsense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	34786492	122754426	68399850	53	32847										
DCHS2	54798	genome.wustl.edu	37	chr4	155242131	155242131	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aatcactctgaaaagataatGagatgtcgtctcataatcaa	6	7	4	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr4:155242131G>C	ENST00000357232.4	-	14	3054	c.3055C>G	c.(3055-3057)Cat>Gat	p.H1019D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1019	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAAGATAATGAGATGTCGTC	0.383																																																	0													134	132	132					4																	155242131		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3055C>G	4.37:g.155242131G>C	ENSP00000349768:p.His1019Asp		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H1019D	ENST00000357232.4	37	c.3055	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953781	0.73902	.	.	ENSG00000197410	ENST00000357232	T	0.49720	0.77	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.081621	0.51477	D	0.000087	T	0.55641	0.1933	L	0.35793	1.09	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.50882	-0.8775	10	0.37606	T	0.19	.	13.0668	0.59038	0.0732:0.0:0.9268:0.0	.	1019	Q6V1P9	PCD23_HUMAN	D	1019	ENSP00000349768:H1019D	ENSP00000349768:H1019D	H	-	1	0	DCHS2	155461581	1.000000	0.71417	0.961000	0.40146	0.978000	0.69477	6.241000	0.72369	2.683000	0.91414	0.563000	0.77884	CAT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155242131	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.999	C	C	155242131	G	C	155242131	3	2	174	1	0	0	0	0	1	0	0	0	4293	1290	45	1	5743	1	DCHS2	4	155242131	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	32487705	155242131	35912145	54	32848										
CHD1	1105	genome.wustl.edu	37	chr5	98192335	98192335	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtgagaacgatgatcagaatGagatctatcttttaaacttc	8	6	3	4			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:98192335G>A	ENST00000284049.3	-	35	5031	c.4882C>T	c.(4882-4884)Cat>Tat	p.H1628Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1628	3 X 5 AA repeats of H-S-D-H-R.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGATCAGAATGAGATCTATCT	0.383																																																	0													118	112	114					5																	98192335		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4882C>T	5.37:g.98192335G>A	ENSP00000284049:p.His1628Tyr		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1628Y	ENST00000284049.3	37	c.4882	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	G	7.976	0.750102	0.15778	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.89617	-2.54	5.55	5.55	0.83447	.	0.000000	0.34676	U	0.003775	T	0.71676	0.3368	N	0.01874	-0.695	0.41263	D	0.986799	B	0.06786	0.001	B	0.01281	0.0	T	0.69105	-0.5233	10	0.12766	T	0.61	.	12.8009	0.57586	0.0749:0.0:0.9251:0.0	.	1628	O14646	CHD1_HUMAN	Y	218;1628	ENSP00000284049:H1628Y	ENSP00000284049:H1628Y	H	-	1	0	CHD1	98220235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.394000	0.73223	2.601000	0.87937	0.655000	0.94253	CAT	CHD1	-	NULL		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	G	NM_001270		98192335	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98192335	G	A	98192335	3	1	174	1	0	0	0	0	1	0	0	0	3328	1290	45	1	254	1	CHD1	5	98192335	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		98192335	82722925	55	32849										
PCDHGB2	56103	genome.wustl.edu	37	chr5	140739720	140739720	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aagatgaaagcgagctcaggGaggtgcgggctggtgcggtg	20	6	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:140739720G>A	ENST00000522605.1	+	1	18	c.18G>A	c.(16-18)ggG>ggA	p.G6G	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTCAGGGAGGTGCGGGC	0.572											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													32	40	37					5																	140739720		1992	4168	6160	SO:0001819	synonymous_variant	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.18G>A	5.37:g.140739720G>A		1658	Q3MIJ3|Q9UN65	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G6	ENST00000522605.1	37	c.18	CCDS54924.1	5																																																																																			PCDHGB2	-	NULL		0.572	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	G	NM_018923		140739720	1	no_errors	ENST00000522605	ensembl	human	known	70_37	silent	SNP	0.000	A	A	140739720	G	A	140739720	2	1	174	1	0	0	0	0	0	0	0	1	11587	1161	41	1		1	PCDHGB2	5	140739720	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	42547385	140739720	40175540	56	32850										
POU4F3	5459	genome.wustl.edu	37	chr5	145718752	145718752	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	caaattctccagtctgcactCtggctccgaggccatgcgcc	9	16	3	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:145718752C>G	ENST00000230732.4	+	1	166	c.77C>G	c.(76-78)tCt>tGt	p.S26C	CTC-359M8.1_ENST00000515598.1_RNA|RBM27_ENST00000506502.1_Silent_p.L1011L	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	26					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCTGCACTCTGGCTCCGAG	0.572																																																	0													107	95	99					5																	145718752		2203	4300	6503	SO:0001583	missense	5459			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.77C>G	5.37:g.145718752C>G	ENSP00000230732:p.Ser26Cys		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.S26C	ENST00000230732.4	37	c.77	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617666	0.66787	.	.	ENSG00000091010	ENST00000230732	T	0.41400	1.0	4.55	4.55	0.56014	.	0.076469	0.56097	D	0.000040	T	0.49541	0.1563	M	0.72479	2.2	0.53005	D	0.999964	D	0.57257	0.979	P	0.46320	0.512	T	0.59134	-0.7511	10	0.62326	D	0.03	.	16.2213	0.82258	0.0:1.0:0.0:0.0	.	26	Q15319	PO4F3_HUMAN	C	26	ENSP00000230732:S26C	ENSP00000230732:S26C	S	+	2	0	POU4F3	145698945	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.225000	0.78051	2.349000	0.79799	0.462000	0.41574	TCT	POU4F3	-	NULL		0.572	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	C	NM_002700		145718752	1	no_errors	ENST00000230732	ensembl	human	known	70_37	missense	SNP	1.000	G	G	145718752	C	G	145718752	3	3	174	1	0	0	0	0	1	0	0	0	12304	913	32	1	79	1	POU4F3	5	145718752	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	4979032	145718752	35196508	57	32851										
ATP10B	23120	genome.wustl.edu	37	chr5	160042920	160042920	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tcggttgtcgagggatgcctCagcctcacgccggaaactgg	14	12	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:160042920C>T	ENST00000327245.5	-	17	3424	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	860					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGATGCCTCAGCCTCACGC	0.478																																																	0													83	83	83					5																	160042920		1947	4127	6074	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2578G>A	5.37:g.160042920C>T	ENSP00000313600:p.Glu860Lys		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E860K	ENST00000327245.5	37	c.2578	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021116	0.93462	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.44083	0.93;1.94	5.64	5.64	0.86602	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.136890	0.51477	D	0.000090	T	0.50292	0.1607	N	0.17764	0.52	0.46849	D	0.999224	D;D	0.76494	0.999;0.99	D;P	0.72338	0.977;0.87	T	0.43734	-0.9373	9	.	.	.	.	18.6884	0.91574	0.0:1.0:0.0:0.0	.	468;860	Q2YDW8;O94823	.;AT10B_HUMAN	K	860;468	ENSP00000313600:E860K;ENSP00000431081:E468K	.	E	-	1	0	ATP10B	159975498	0.987000	0.35691	0.973000	0.42090	0.992000	0.81027	2.640000	0.46579	2.657000	0.90304	0.655000	0.94253	GAG	ATP10B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160042920	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.991	T	T	160042920	C	T	160042920	3	4	174	1	0	0	0	0	1	0	0	0	1118	835	29	1	1847	1	ATP10B	5	160042920	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	14324168	160042920	20872340	58	32852										
ZNF354B	117608	genome.wustl.edu	37	chr5	178310999	178310999	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttagtaatcaccagagaattCatactggagagaaaccatat	7	7	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:178310999C>G	ENST00000322434.3	+	5	1772	c.1546C>G	c.(1546-1548)Cat>Gat	p.H516D	ZNF354B_ENST00000522714.1_3'UTR|RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGAGAATTCATACTGGAGA	0.393																																																	0													98	94	95					5																	178310999		2203	4300	6503	SO:0001583	missense	117608			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1546C>G	5.37:g.178310999C>G	ENSP00000327143:p.His516Asp		A8K0V2|Q5U5Z4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H516D	ENST00000322434.3	37	c.1546	CCDS4439.1	5	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438941	0.63067	.	.	ENSG00000178338	ENST00000322434	T	0.67698	-0.28	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85279	0.5660	H	0.94620	3.56	0.41590	D	0.988792	D	0.89917	1.0	D	0.80764	0.994	D	0.89442	0.3724	9	0.87932	D	0	-13.7215	12.9456	0.58371	0.0:1.0:0.0:0.0	.	516	Q96LW1	Z354B_HUMAN	D	516	ENSP00000327143:H516D	ENSP00000327143:H516D	H	+	1	0	ZNF354B	178243605	0.970000	0.33590	0.966000	0.40874	0.896000	0.52359	2.509000	0.45459	1.894000	0.54839	0.555000	0.69702	CAT	ZNF354B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354B	HGNC	protein_coding	OTTHUMT00000253482.1	C	NM_058230		178310999	1	no_errors	ENST00000322434	ensembl	human	known	70_37	missense	SNP	1.000	G	G	178310999	C	G	178310999	3	3	174	1	0	0	0	0	1	0	0	0	17895	826	29	1	1560	1	ZNF354B	5	178310999	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	18268079	178310999	2604261	59	32853										
C5orf45	51149	genome.wustl.edu	37	chr5	179280429	179280429	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttgcatgtccacttgacactCttttttacctgcaatgaaat	5	10	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr5:179280429C>A	ENST00000292586.6	-	2	165	c.75G>T	c.(73-75)aaG>aaT	p.K25N	C5orf45_ENST00000521333.1_Missense_Mutation_p.K25N|C5orf45_ENST00000518219.1_Missense_Mutation_p.K25N|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.K25N|C5orf45_ENST00000403396.2_Nonsense_Mutation_p.E41*|C5orf45_ENST00000520698.1_Missense_Mutation_p.K25N|C5orf45_ENST00000518235.1_Missense_Mutation_p.K25N	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	25										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						ACTTGACACTCTTTTTTACCT	0.453																																																	0													91	87	88					5																	179280429		2203	4300	6503	SO:0001583	missense	51149				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.75G>T	5.37:g.179280429C>A	ENSP00000292586:p.Lys25Asn		B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Nonsense_Mutation	SNP	NULL	p.E41*	ENST00000292586.6	37	c.121	CCDS34319.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.680894|3.680894	0.68042|0.68042	.|.	.|.	ENSG00000161010|ENSG00000161010	ENST00000403396|ENST00000518235;ENST00000520698;ENST00000376931;ENST00000518219;ENST00000292586;ENST00000521333	.|T;D;D;D;T;D	.|0.81739	.|1.77;-1.53;-1.53;-1.53;1.77;-1.53	4.03|4.03	3.15|3.15	0.36227|0.36227	.|.	.|0.245514	.|0.26983	.|N	.|0.021517	.|D	.|0.87704	.|0.6244	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	A|A	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.976;0.999;0.976;0.998	.|D	.|0.90490	.|0.4466	.|9	0.87932|0.66056	D|D	0|0.02	-16.1919|-16.1919	9.4609|9.4609	0.38785|0.38785	0.0:0.8973:0.0:0.1027|0.0:0.8973:0.0:0.1027	.|.	.|25;25;25;25	.|E7EMV9;B7Z1T6;E9PAK6;Q6NTE8	.|.;.;.;CE045_HUMAN	X|N	41|25	.|ENSP00000430298:K25N;ENSP00000427849:K25N;ENSP00000366130:K25N;ENSP00000428460:K25N;ENSP00000292586:K25N;ENSP00000429651:K25N	ENSP00000384599:E41X|ENSP00000292586:K25N	E|K	-|-	1|3	0|2	C5orf45|C5orf45	179213035|179213035	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.944000|0.944000	0.59088|0.59088	0.535000|0.535000	0.23114|0.23114	1.268000|1.268000	0.44264|0.44264	0.655000|0.655000	0.94253|0.94253	GAG|AAG	C5orf45	-	NULL		0.453	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000373760.2	C	NM_016175		179280429	-1	no_errors	ENST00000403396	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	179280429	C	A	179280429	3	1	174	1	0	0	0	0	1	0	0	0	2309	912	32	3	980	3	C5orf45	5	179280429	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	969430	179280429	1634831	60	32854										
BTN3A1	11119	genome.wustl.edu	37	chr6	26409930	26409930	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gagttgagagaaatggcatgGagcacaatgaagcaagaaca	13	5	0	4			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:26409930G>A	ENST00000289361.6	+	5	1253	c.885G>A	c.(883-885)tgG>tgA	p.W295*	BTN3A1_ENST00000425234.2_Nonsense_Mutation_p.W295*|BTN3A1_ENST00000476549.2_Nonsense_Mutation_p.W295*|BTN3A1_ENST00000414912.2_Nonsense_Mutation_p.W243*	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	295					activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AAATGGCATGGAGCACAATGA	0.498																																																	0													153	166	161					6																	26409930		2203	4300	6503	SO:0001587	stop_gained	11119			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.885G>A	6.37:g.26409930G>A	ENSP00000289361:p.Trp295*		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.W295*	ENST00000289361.6	37	c.885	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	22.1	4.250377	0.80024	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	.	.	.	1.18	1.18	0.20946	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	5.7447	0.18114	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;295;243	.	ENSP00000289361:W295X	W	+	3	0	BTN3A1	26517909	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.187000	0.32090	0.952000	0.37798	0.603000	0.83216	TGG	BTN3A1	-	NULL		0.498	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	G			26409930	1	no_errors	ENST00000289361	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	26409930	G	A	26409930	4	1	174	1	0	0	0	0	0	1	0	0	1565	1183	41	1	899	1	BTN3A1	6	26409930	Nonsense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		26409930	144705137	61	32855										
IER3	8870	genome.wustl.edu	37	chr6	30711813	30711813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gctcgaggacggcggacacaGgggtgggcgccagggatgcg	21	10	0	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:30711813G>A	ENST00000259874.5	-	2	406	c.371C>T	c.(370-372)cCt>cTt	p.P124L	IER3_ENST00000376377.2_3'UTR|FLOT1_ENST00000470643.1_5'Flank|FLOT1_ENST00000456573.2_5'Flank|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000376389.3_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	124					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						GGCGGACACAGGGGTGGGCGC	0.642																																																	0													33	38	36					6																	30711813		2200	4300	6500	SO:0001583	missense	8870			AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.371C>T	6.37:g.30711813G>A	ENSP00000259874:p.Pro124Leu		Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	NULL	p.P124L	ENST00000259874.5	37	c.371	CCDS4689.1	6	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715829	0.15306	.	.	ENSG00000137331	ENST00000259874;ENST00000376382	T	0.44881	0.91	4.17	2.25	0.28309	.	1.143940	0.06362	N	0.711844	T	0.13329	0.0323	L	0.36672	1.1	0.18873	N	0.999989	B	0.26809	0.16	B	0.24848	0.056	T	0.26189	-1.0110	10	0.27082	T	0.32	.	5.3643	0.16105	0.1074:0.0:0.6967:0.1959	.	124	P46695	IEX1_HUMAN	L	124;160	ENSP00000259874:P124L	ENSP00000259874:P124L	P	-	2	0	IER3	30819792	0.001000	0.12720	0.006000	0.13384	0.003000	0.03518	0.779000	0.26746	0.974000	0.38366	0.456000	0.33151	CCT	IER3	-	NULL		0.642	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER3	HGNC	protein_coding	OTTHUMT00000076578.2	G			30711813	-1	no_errors	ENST00000259874	ensembl	human	known	70_37	missense	SNP	0.001	A	A	30711813	G	A	30711813	3	1	174	1	0	0	0	0	1	0	0	0	7526	1000	35	4	103	4	IER3	6	30711813	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	4301883	30711813	140403254	62	32856										
RING1	6015	genome.wustl.edu	37	chr6	33180148	33180148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtcccggccactggagctgtGctatgctcccaccaaggatc	11	15	0	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:33180148G>A	ENST00000374656.4	+	7	1401	c.1193G>A	c.(1192-1194)tGc>tAc	p.C398Y	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	398	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CTGGAGCTGTGCTATGCTCCC	0.582																																																	0													27	23	24					6																	33180148		1508	2708	4216	SO:0001583	missense	6015				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1193G>A	6.37:g.33180148G>A	ENSP00000363787:p.Cys398Tyr		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.C398Y	ENST00000374656.4	37	c.1193	CCDS34424.1	6	.	.	.	.	.	.	.	.	.	.	G	0	-2.595259	0.00125	.	.	ENSG00000204227	ENST00000374656	T	0.77358	-1.09	4.92	1.22	0.21188	.	0.182955	0.39909	N	0.001230	T	0.15869	0.0382	N	0.00554	-1.385	0.36936	D	0.892156	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.02654	T	1	-15.4789	7.4179	0.27055	0.4438:0.0:0.5562:0.0	.	398	Q06587	RING1_HUMAN	Y	398	ENSP00000363787:C398Y	ENSP00000363787:C398Y	C	+	2	0	RING1	33288126	1.000000	0.71417	0.010000	0.14722	0.000000	0.00434	5.328000	0.65887	0.027000	0.15297	-0.796000	0.03273	TGC	RING1	-	NULL		0.582	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RING1	HGNC	protein_coding	OTTHUMT00000076609.2	G			33180148	1	no_errors	ENST00000374656	ensembl	human	known	70_37	missense	SNP	0.965	A	A	33180148	G	A	33180148	3	1	174	1	0	0	0	0	1	0	0	0	13404	1319	46	4	1215	4	RING1	6	33180148	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	2468335	33180148	137934919	63	32857										
PKHD1	5314	genome.wustl.edu	37	chr6	51613066	51613066	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gccacattgtcagaccaaagCagttcacaagaggagcactt	9	11	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:51613066C>A	ENST00000371117.3	-	58	9623	c.9348G>T	c.(9346-9348)ctG>ctT	p.L3116L	PKHD1_ENST00000340994.4_Silent_p.L3116L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3116					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGACCAAAGCAGTTCACAAG	0.483																																																	0			GRCh37	CD054975	PKHD1	D							241	228	232					6																	51613066		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9348G>T	6.37:g.51613066C>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L3116	ENST00000371117.3	37	c.9348	CCDS4935.1	6																																																																																			PKHD1	-	superfamily_Pectin_lyase_fold/virulence		0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51613066	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.000	A	A	51613066	C	A	51613066	2	1	174	1	0	0	0	0	0	0	0	1	11995	697	25	4		4	PKHD1	6	51613066	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	18432918	51613066	119502001	64	32858										
BAI3	577	genome.wustl.edu	37	chr6	70048837	70048837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tgagcctcatagcggtttgaCgctcaaatgtgccaagtgtg	12	9	2	2	rs376079687		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:70048837C>T	ENST00000370598.1	+	25	4039	c.3218C>T	c.(3217-3219)aCg>aTg	p.T1073M	BAI3_ENST00000546190.1_Missense_Mutation_p.T37M|BAI3_ENST00000238918.8_Missense_Mutation_p.T279M	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1073					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGCGGTTTGACGCTCAAATGT	0.413																																																	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	224	220	221		3218	6.2	1	6		221	0,8600		0,0,4300	no	missense	BAI3	NM_001704.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1073/1523	70048837	1,13005	2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3218C>T	6.37:g.70048837C>T	ENSP00000359630:p.Thr1073Met		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.T1073M	ENST00000370598.1	37	c.3218	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146269	0.77888	2.27E-4	0.0	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.46063	2.0;2.63;0.88	6.16	6.16	0.99307	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.49778	1.585	0.53688	D	0.999976	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.78314	0.98;0.91;0.991	T	0.29731	-1.0002	10	0.33940	T	0.23	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	279;1073;1073	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	M	1073;279;37	ENSP00000359630:T1073M;ENSP00000238918:T279M;ENSP00000441821:T37M	ENSP00000238918:T279M	T	+	2	0	BAI3	70105558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.937000	0.99478	0.650000	0.86243	ACG	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	C			70048837	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70048837	C	T	70048837	3	4	174	1	0	0	0	0	1	0	0	0	1301	536	19	2	3308	2	BAI3	6	70048837	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	18435771	70048837	101066230	65	32859										
COL19A1	1310	genome.wustl.edu	37	chr6	70831805	70831805	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tacaaggaatacaccaaactCttggtggatattataacaag	7	7	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:70831805C>G	ENST00000322773.4	+	17	1414	c.1312C>G	c.(1312-1314)Ctt>Gtt	p.L438V	COL19A1_ENST00000393344.1_Missense_Mutation_p.L60V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	438					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.L438I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACACCAAACTCTTGGTGGATA	0.259																																																	1	Substitution - Missense(1)	lung(1)											71	79	76					6																	70831805		2199	4274	6473	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1312C>G	6.37:g.70831805C>G	ENSP00000316030:p.Leu438Val		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L438V	ENST00000322773.4	37	c.1312	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	C	8.387	0.838816	0.16891	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	T;T;T	0.56611	0.45;0.45;0.45	5.32	1.7	0.24286	.	0.281933	0.26711	N	0.022893	T	0.15132	0.0365	L	0.36672	1.1	0.09310	N	1	B	0.31705	0.336	B	0.30943	0.122	T	0.29792	-1.0000	10	0.12103	T	0.63	.	7.2441	0.26112	0.0:0.4086:0.0:0.5914	.	438	Q14993	COJA1_HUMAN	V	438;60;12	ENSP00000316030:L438V;ENSP00000377013:L60V;ENSP00000416556:L12V	ENSP00000316030:L438V	L	+	1	0	COL19A1	70888526	0.994000	0.37717	0.625000	0.29200	0.482000	0.33219	0.671000	0.25172	0.192000	0.20272	0.655000	0.94253	CTT	COL19A1	-	NULL		0.259	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	C			70831805	1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	0.187	G	G	70831805	C	G	70831805	3	3	174	1	0	0	0	0	1	0	0	0	3681	913	32	1	1374	1	COL19A1	6	70831805	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	782968	70831805	100283262	66	32860										
RNGTT	8732	genome.wustl.edu	37	chr6	89322520	89322520	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gatgatgttttcgcttctgtCcttgagaagctgcagtacat	10	8	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:89322520C>G	ENST00000369485.4	-	16	1898	c.1712G>C	c.(1711-1713)gGa>gCa	p.G571A	RNGTT_ENST00000265607.6_Missense_Mutation_p.G548A|RNGTT_ENST00000538899.1_Missense_Mutation_p.G488A	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	571	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TCGCTTCTGTCCTTGAGAAGC	0.507																																																	0													249	190	210					6																	89322520		2203	4300	6503	SO:0001583	missense	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1712G>C	6.37:g.89322520C>G	ENSP00000358497:p.Gly571Ala		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.G571A	ENST00000369485.4	37	c.1712	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	C	6.578	0.474893	0.12521	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746	T;T;T	0.20881	2.06;2.04;2.04	5.84	4.95	0.65309	Nucleic acid-binding, OB-fold-like (1);	0.307172	0.40385	N	0.001115	T	0.03608	0.0103	N	0.17082	0.46	0.46149	D	0.998896	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.22871	-1.0204	10	0.05436	T	0.98	-9.775	10.7796	0.46369	0.1325:0.7999:0.0:0.0675	.	488;548;571	B4DSJ8;O60942-2;O60942	.;.;MCE1_HUMAN	A	571;548;488;542	ENSP00000358497:G571A;ENSP00000265607:G548A;ENSP00000442609:G488A	ENSP00000265607:G548A	G	-	2	0	RNGTT	89379239	1.000000	0.71417	0.996000	0.52242	0.855000	0.48748	2.209000	0.42806	1.571000	0.49722	0.650000	0.86243	GGA	RNGTT	-	superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc		0.507	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	C			89322520	-1	no_errors	ENST00000369485	ensembl	human	known	70_37	missense	SNP	0.997	G	G	89322520	C	G	89322520	3	3	174	1	0	0	0	0	1	0	0	0	13533	855	30	1	85	1	RNGTT	6	89322520	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	18490715	89322520	81792547	67	32861										
MED23	9439	genome.wustl.edu	37	chr6	131931194	131931194	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tttagtacataccttctgatGaagagaaagcaccatatgtg	8	7	1	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:131931194G>A	ENST00000368068.3	-	11	1248	c.1069C>T	c.(1069-1071)Cat>Tat	p.H357Y	MED23_ENST00000403834.3_Missense_Mutation_p.H363Y|MED23_ENST00000539158.1_Missense_Mutation_p.H357Y|MED23_ENST00000545957.1_Missense_Mutation_p.H46Y|MED23_ENST00000368060.3_Missense_Mutation_p.H357Y|MED23_ENST00000540546.1_Missense_Mutation_p.H363Y|MED23_ENST00000354577.4_Missense_Mutation_p.H363Y|MED23_ENST00000368058.1_Missense_Mutation_p.H363Y|MED23_ENST00000368053.4_Missense_Mutation_p.H363Y	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	357					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACCTTCTGATGAAGAGAAAGC	0.423																																																	0													89	90	90					6																	131931194		2203	4300	6503	SO:0001583	missense	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1069C>T	6.37:g.131931194G>A	ENSP00000357047:p.His357Tyr		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.H363Y	ENST00000368068.3	37	c.1087	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761926	0.69763	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.82435	0.5036	L	0.52126	1.63	0.80722	D	1	D;P;D;P	0.89917	1.0;0.908;0.961;0.952	D;P;P;P	0.91635	0.999;0.888;0.683;0.555	T	0.79741	-0.1676	10	0.34782	T	0.22	3.8207	18.9971	0.92818	0.0:0.0:1.0:0.0	.	46;363;357;363	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	Y	363;357;363;357;363;46;363;363;357	ENSP00000346588:H363Y;ENSP00000357047:H357Y;ENSP00000384536:H363Y;ENSP00000357039:H357Y;ENSP00000357037:H363Y;ENSP00000439977:H46Y;ENSP00000357032:H363Y;ENSP00000437818:H363Y;ENSP00000445072:H357Y	ENSP00000346588:H363Y	H	-	1	0	MED23	131972887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.567000	0.86603	0.591000	0.81541	CAT	MED23	-	pfam_Mediator_Med23		0.423	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	G			131931194	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131931194	G	A	131931194	3	1	174	1	0	0	0	0	1	0	0	0	9464	1290	45	1	3120	1	MED23	6	131931194	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	42608674	131931194	39183873	68	32862										
CTGF	1490	genome.wustl.edu	37	chr6	132270589	132270589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gggggtgcagcatcggccgtCggtacatactccacagaatt	13	11	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:132270589C>T	ENST00000367976.3	-	5	1065	c.865G>A	c.(865-867)Gac>Aac	p.D289N	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	289	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CATCGGCCGTCGGTACATACT	0.527																																					Esophageal Squamous(127;510 1660 12817 24400 38449)												0													204	199	200					6																	132270589		2203	4300	6503	SO:0001583	missense	1490			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.865G>A	6.37:g.132270589C>T	ENSP00000356954:p.Asp289Asn		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.D289N	ENST00000367976.3	37	c.865	CCDS5151.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173878	0.78452	.	.	ENSG00000118523	ENST00000367976	T	0.17213	2.29	5.55	5.55	0.83447	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35748	-0.9776	10	0.87932	D	0	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	289	P29279	CTGF_HUMAN	N	289	ENSP00000356954:D289N	ENSP00000356954:D289N	D	-	1	0	CTGF	132312282	1.000000	0.71417	0.320000	0.25306	0.521000	0.34408	7.776000	0.85560	2.773000	0.95371	0.585000	0.79938	GAC	CTGF	-	pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C		0.527	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTGF	HGNC	protein_coding	OTTHUMT00000042239.2	C	NM_001901		132270589	-1	no_errors	ENST00000367976	ensembl	human	known	70_37	missense	SNP	1.000	T	T	132270589	C	T	132270589	3	4	174	1	0	0	0	0	1	0	0	0	4013	884	31	1	188	1	CTGF	6	132270589	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	339395	132270589	38844478	69	32863										
KIAA1244	57221	genome.wustl.edu	37	chr6	138584598	138584598	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tgcgaactgccgccctgtctCtaaaactgctgaagaaccag	9	13	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:138584598C>G	ENST00000251691.4	+	12	2144	c.1978C>G	c.(1978-1980)Cta>Gta	p.L660V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGCCCTGTCTCTAAAACTGCT	0.597																																																	0													51	57	55					6																	138584598		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1978C>G	6.37:g.138584598C>G	ENSP00000251691:p.Leu660Val			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.L660V	ENST00000251691.4	37	c.1978	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374769	0.42105	.	.	ENSG00000112379	ENST00000251691	T	0.22945	1.93	5.47	3.34	0.38264	SEC7-like (1);	3.607490	0.01011	N	0.003839	T	0.28797	0.0714	L	0.57536	1.79	0.26645	N	0.972212	D	0.69078	0.997	D	0.72625	0.978	T	0.25363	-1.0134	10	0.15499	T	0.54	-15.2561	9.4339	0.38626	0.0:0.7005:0.0:0.2995	.	660	Q5TH69	BIG3_HUMAN	V	660	ENSP00000251691:L660V	ENSP00000251691:L660V	L	+	1	2	KIAA1244	138626291	0.908000	0.30866	0.842000	0.33263	0.800000	0.45204	1.886000	0.39688	1.299000	0.44798	0.655000	0.94253	CTA	KIAA1244	-	superfamily_ARM-type_fold,smart_Sec7		0.597	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	C	NM_020340		138584598	1	no_errors	ENST00000251691	ensembl	human	known	70_37	missense	SNP	0.307	G	G	138584598	C	G	138584598	3	3	174	1	0	0	0	0	1	0	0	0	8237	912	32	1	2024	1	KIAA1244	6	138584598	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	6314009	138584598	32530469	70	32864										
C6orf118	168090	genome.wustl.edu	37	chr6	165715766	165715766	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttcacgcctggcgtctcgcaGtgcttccacttcaggtacac	9	15	3	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr6:165715766G>C	ENST00000230301.8	-	2	65	c.45C>G	c.(43-45)caC>caG	p.H15Q	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	15										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCGTCTCGCAGTGCTTCCACT	0.522																																																	0													48	52	51					6																	165715766		2203	4300	6503	SO:0001583	missense	168090				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.45C>G	6.37:g.165715766G>C	ENSP00000230301:p.His15Gln		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.H15Q	ENST00000230301.8	37	c.45	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	-	9.751	1.167600	0.21621	.	.	ENSG00000112539	ENST00000230301	T	0.14640	2.49	4.36	2.36	0.29203	.	0.218384	0.32578	N	0.005902	T	0.08537	0.0212	L	0.61218	1.895	0.31549	N	0.659005	B	0.32781	0.384	B	0.42245	0.381	T	0.06391	-1.0829	10	0.72032	D	0.01	.	5.7142	0.17950	0.2559:0.0:0.7441:0.0	.	15	Q5T5N4	CF118_HUMAN	Q	15	ENSP00000230301:H15Q	ENSP00000230301:H15Q	H	-	3	2	C6orf118	165635756	0.997000	0.39634	0.748000	0.31131	0.007000	0.05969	1.090000	0.30902	1.008000	0.39264	0.561000	0.74099	CAC	C6orf118	-	NULL		0.522	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	G	NM_144980		165715766	-1	no_errors	ENST00000230301	ensembl	human	known	70_37	missense	SNP	0.396	C	C	165715766	G	C	165715766	3	2	174	1	0	0	0	0	1	0	0	0	2328	1020	36	4	1396	4	C6orf118	6	165715766	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	27131168	165715766	5399301	71	32865										
SDK1	221935	genome.wustl.edu	37	chr7	4011173	4011173	+	Frame_Shift_Del	DEL	C	C	-													0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggccacgctgcactgtggtgCcacacatgacccccgggttt							TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:4011173delC	ENST00000404826.2	+	12	1929	c.1790delC	c.(1789-1791)gccfs	p.A597fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.A597fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	597	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACTGTGGTGCCACACATGAC	0.522																																																	0													86	71	76					7																	4011173		2203	4299	6502	SO:0001589	frameshift_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1790delC	7.37:g.4011173delC	ENSP00000385899:p.Ala597fs		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T598fs	ENST00000404826.2	37	c.1790	CCDS34590.1	7																																																																																			SDK1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.522	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	C	NM_152744		4011173	1	no_errors	ENST00000404826	ensembl	human	known	70_37	frame_shift_del	DEL	0.961	-	-	4011173	C	-	4011173	7	5	174	1	0	1	0	1	0	0	0	0	13998	739	26	0	1836	0	SDK1	7	4011173	Frame_Shift_Del	DEL	C	TCGA-MU-A51Y-01A-11D-A26G-09		4011173	155127490	72	32866										
SNX13	23161	genome.wustl.edu	37	chr7	17874425	17874425	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gatttcaggggttggatcttCatgattcaaagtatctgcta	10	6	5	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:17874425C>T	ENST00000409389.1	-	14	1595	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	SNX13_ENST00000428135.3_Missense_Mutation_p.E475K			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	475	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GTTGGATCTTCATGATTCAAA	0.284																																																	0													51	50	50					7																	17874425		1796	4057	5853	SO:0001583	missense	23161			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1423G>A	7.37:g.17874425C>T	ENSP00000386705:p.Glu475Lys		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.E475K	ENST00000409389.1	37	c.1423		7	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144845	0.77888	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.21543	2.0;2.0	5.12	5.12	0.69794	.	0.047210	0.85682	D	0.000000	T	0.27454	0.0674	L	0.55990	1.75	0.80722	D	1	B;B;P	0.52061	0.294;0.237;0.95	B;B;P	0.48334	0.172;0.238;0.574	T	0.04242	-1.0966	10	0.07644	T	0.81	-16.6054	18.9365	0.92588	0.0:1.0:0.0:0.0	.	272;475;475	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	K	475;475;523	ENSP00000386705:E475K;ENSP00000398789:E475K	ENSP00000242044:E523K	E	-	1	0	SNX13	17840950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.129000	0.77225	2.547000	0.85894	0.555000	0.69702	GAA	SNX13	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.284	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	C	NM_015132		17874425	-1	no_errors	ENST00000428135	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	17874425	C	T	17874425	3	4	174	1	0	0	0	0	1	0	0	0	14914	835	29	1	1502	1	SNX13	7	17874425	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	13863252	17874425	141264238	73	32867										
WBSCR16	81554	genome.wustl.edu	37	chr7	74486521	74486521	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agtcccatcccccagactttCgtaacatccgcagtcttaga	6	15	1	2	rs372665821		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:74486521C>T	ENST00000329959.4	-	2	442	c.387G>A	c.(385-387)acG>acA	p.T129T	WBSCR16_ENST00000543840.1_Silent_p.T129T|WBSCR16_ENST00000503250.2_Silent_p.T129T	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	129							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCCAGACTTTCGTAACATCCG	0.468																																																	0								C		0,4406		0,0,2203	115	111	112		387	-7	0.4	7		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WBSCR16	NM_030798.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		129/465	74486521	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81554			AF410455	CCDS5577.1, CCDS64683.1, CCDS64684.1	7q11.23	2008-08-14			ENSG00000174374	ENSG00000274523			14948	protein-coding gene	gene with protein product						12073013	Standard	NM_030798		Approved		uc003ubr.3	Q96I51	OTTHUMG00000130373	ENST00000329959.4:c.387G>A	7.37:g.74486521C>T			D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.T129	ENST00000329959.4	37	c.387	CCDS5577.1	7																																																																																			WBSCR16	-	superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.468	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR16	HGNC	protein_coding	OTTHUMT00000252740.1	C	NM_030798		74486521	-1	no_errors	ENST00000329959	ensembl	human	known	70_37	silent	SNP	0.947	T	T	74486521	C	T	74486521	2	4	174	1	0	0	0	0	0	0	0	1	17294	871	31	1		1	WBSCR16	7	74486521	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	56612096	74486521	84652142	74	32868										
POM121C	100101267	genome.wustl.edu	37	chr7	75050940	75050940	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ctctgtcctgctccaaagctGaaagctccggtggtggcgct	12	13	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:75050940G>A	ENST00000257665.5	-	11	3320	c.3321C>T	c.(3319-3321)ttC>ttT	p.F1107F	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Silent_p.F865F			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1107	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTCCAAAGCTGAAAGCTCCGG	0.657																																																	0													11	16	14					7																	75050940		2090	4150	6240	SO:0001819	synonymous_variant	100101267				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3321C>T	7.37:g.75050940G>A			O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	NULL	p.F1107	ENST00000257665.5	37	c.3321		7																																																																																			POM121C	-	NULL		0.657	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	POM121C	HGNC	protein_coding	OTTHUMT00000343919.2	G	NM_001099415		75050940	-1	no_errors	ENST00000257665	ensembl	human	known	70_37	silent	SNP	0.188	A	A	75050940	G	A	75050940	2	1	174	1	0	0	0	0	0	0	0	1	12264	1281	45	1		1	POM121C	7	75050940	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	564419	75050940	84087723	75	32869										
SAMD9	54809	genome.wustl.edu	37	chr7	92735050	92735050	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tgcagacggattagccatatCtgggttctctttaccctttt	8	10	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:92735050C>T	ENST00000379958.2	-	3	630	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	121						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTAGCCATATCTGGGTTCTCT	0.378																																																	0													142	141	141					7																	92735050		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.361G>A	7.37:g.92735050C>T	ENSP00000369292:p.Asp121Asn		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D121N	ENST00000379958.2	37	c.361	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572141	0.28092	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13420	2.59;2.59	4.7	2.76	0.32466	.	0.374223	0.21795	N	0.069020	T	0.06872	0.0175	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.37979	-0.9682	10	0.17832	T	0.49	.	4.7754	0.13176	0.1571:0.6054:0.1522:0.0853	.	121	Q5K651	SAMD9_HUMAN	N	121	ENSP00000369292:D121N;ENSP00000414529:D121N	ENSP00000369292:D121N	D	-	1	0	SAMD9	92572986	0.000000	0.05858	0.038000	0.18304	0.186000	0.23388	-0.048000	0.11944	0.628000	0.30357	0.603000	0.83216	GAT	SAMD9	-	NULL		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92735050	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	0.006	T	T	92735050	C	T	92735050	3	4	174	1	0	0	0	0	1	0	0	0	13856	913	32	1	4412	1	SAMD9	7	92735050	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	17684110	92735050	66403613	76	32870										
DNAJC2	27000	genome.wustl.edu	37	chr7	102962392	102962392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gatataccttgcatgagtttCgaagtttttgcctttccttc	7	9	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:102962392C>A	ENST00000379263.3	-	10	1320	c.1070G>T	c.(1069-1071)cGa>cTa	p.R357L	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.R357L	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	357					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GCATGAGTTTCGAAGTTTTTG	0.353																																																	0													282	258	265					7																	102962392		1847	4108	5955	SO:0001583	missense	27000			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1070G>T	7.37:g.102962392C>A	ENSP00000368565:p.Arg357Leu		A4VCI0|Q9BVX1	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.R357L	ENST00000379263.3	37	c.1070	CCDS43628.1	7	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754548	0.89843	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	T;T	0.42900	0.96;1.12	5.6	5.6	0.85130	.	0.057625	0.64402	D	0.000002	T	0.73063	0.3539	M	0.91196	3.185	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.72982	0.979;0.947	T	0.78107	-0.2333	10	0.56958	D	0.05	-3.967	19.6183	0.95645	0.0:1.0:0.0:0.0	.	357;357	Q99543-2;Q99543	.;DNJC2_HUMAN	L	357	ENSP00000249270:R357L;ENSP00000368565:R357L	ENSP00000249270:R357L	R	-	2	0	DNAJC2	102749628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.946000	0.75953	2.653000	0.90120	0.650000	0.86243	CGA	DNAJC2	-	NULL		0.353	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1	C			102962392	-1	no_errors	ENST00000379263	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102962392	C	A	102962392	3	1	174	1	0	0	0	0	1	0	0	0	4649	884	31	3	827	3	DNAJC2	7	102962392	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	10227342	102962392	56176271	77	32871										
MLL3	58508	genome.wustl.edu	37	chr7	151876977	151876977	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aggaggatagggtccacgctGatcttttgggaaaacagcat	13	7	1	1	rs372070871		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr7:151876977G>A	ENST00000262189.6	-	37	7602	c.7384C>T	c.(7384-7386)Cag>Tag	p.Q2462*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2462*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2462	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTCCACGCTGATCTTTTGGG	0.458																																																	0													138	129	132					7																	151876977		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7384C>T	7.37:g.151876977G>A	ENSP00000262189:p.Gln2462*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2462*	ENST00000262189.6	37	c.7384	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.408729	0.99833	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.17	2.22	0.28083	.	0.513886	0.15947	N	0.236894	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	10.974	0.47454	0.0:0.2638:0.5993:0.1369	.	.	.	.	X	2462	.	ENSP00000262189:Q2462X	Q	-	1	0	MLL3	151507910	1.000000	0.71417	0.076000	0.20297	0.977000	0.68977	3.746000	0.55127	0.232000	0.21100	0.650000	0.86243	CAG	MLL3	-	NULL		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151876977	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.804	A	A	151876977	G	A	151876977	4	1	174	1	0	0	0	0	0	1	0	0	9645	1299	45	1	7443	1	MLL3	7	151876977	Nonsense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	48914585	151876977	7261686	78	32872										
EGR3	1960	genome.wustl.edu	37	chr8	22548785	22548785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tgctggccgtggacgtctgcGtgctgagcgcccctgaagcc	15	14	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:22548785G>A	ENST00000317216.2	-	2	722	c.365C>T	c.(364-366)aCg>aTg	p.T122M	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.T84M|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	122					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GGACGTCTGCGTGCTGAGCGC	0.647																																																	0													30	32	32					8																	22548785		2202	4300	6502	SO:0001583	missense	1960			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.365C>T	8.37:g.22548785G>A	ENSP00000318057:p.Thr122Met		A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T122M	ENST00000317216.2	37	c.365	CCDS6033.1	8	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879538	0.72294	.	.	ENSG00000179388	ENST00000317216;ENST00000522910	T;T	0.24908	1.83;1.83	5.39	5.39	0.77823	.	0.054916	0.64402	D	0.000001	T	0.42944	0.1225	L	0.40543	1.245	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.973	T	0.28332	-1.0047	10	0.72032	D	0.01	-19.197	16.6495	0.85185	0.0:0.0:1.0:0.0	.	84;122	E7EW38;Q06889	.;EGR3_HUMAN	M	122;84	ENSP00000318057:T122M;ENSP00000430310:T84M	ENSP00000318057:T122M	T	-	2	0	EGR3	22604730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.826000	0.99387	2.517000	0.84864	0.462000	0.41574	ACG	EGR3	-	pfam_DUF3446		0.647	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR3	HGNC	protein_coding	OTTHUMT00000215098.1	G	NM_004430		22548785	-1	no_errors	ENST00000317216	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22548785	G	A	22548785	3	1	174	1	0	0	0	0	1	0	0	0	4983	1145	40	2	802	2	EGR3	8	22548785	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		22548785	123815237	79	32873										
TEX15	56154	genome.wustl.edu	37	chr8	30694585	30694585	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tggtcaacagcccagaaggaGatggctgtacttcatatgat	11	8	2	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:30694585G>C	ENST00000256246.2	-	3	8140	c.8066C>G	c.(8065-8067)tCt>tGt	p.S2689C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2689					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCCAGAAGGAGATGGCTGTAC	0.443																																																	0													139	135	136					8																	30694585		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8066C>G	8.37:g.30694585G>C	ENSP00000256246:p.Ser2689Cys			Missense_Mutation	SNP	NULL	p.S2689C	ENST00000256246.2	37	c.8066	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	5.421	0.262810	0.10294	.	.	ENSG00000133863	ENST00000256246	T	0.11063	2.81	5.6	2.7	0.31948	.	0.789987	0.11148	N	0.594417	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.28801	0.223	B	0.16289	0.015	T	0.34279	-0.9835	10	0.87932	D	0	.	6.2621	0.20905	0.3288:0.0:0.6712:0.0	.	2689	Q9BXT5	TEX15_HUMAN	C	2689	ENSP00000256246:S2689C	ENSP00000256246:S2689C	S	-	2	0	TEX15	30814127	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	0.312000	0.19397	0.761000	0.33130	0.650000	0.86243	TCT	TEX15	-	NULL		0.443	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30694585	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.000	C	C	30694585	G	C	30694585	3	2	174	1	0	0	0	0	1	0	0	0	15809	942	33	1	311	1	TEX15	8	30694585	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	8145800	30694585	115669437	80	32874										
TEX15	56154	genome.wustl.edu	37	chr8	30695141	30695141	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	caccgacgcatcaggcacaaGagaaacatcagtttctgggt	10	11	3	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:30695141G>C	ENST00000256246.2	-	3	7584	c.7510C>G	c.(7510-7512)Ctt>Gtt	p.L2504V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2504					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCAGGCACAAGAGAAACATCA	0.413																																																	0													72	74	73					8																	30695141		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7510C>G	8.37:g.30695141G>C	ENSP00000256246:p.Leu2504Val			Missense_Mutation	SNP	NULL	p.L2504V	ENST00000256246.2	37	c.7510	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	5.826	0.336705	0.11013	.	.	ENSG00000133863	ENST00000256246	T	0.18174	2.23	5.13	0.442	0.16582	.	1.337420	0.04909	N	0.452751	T	0.12944	0.0314	L	0.27053	0.805	0.09310	N	1	P	0.40731	0.728	B	0.39339	0.297	T	0.24941	-1.0146	10	0.87932	D	0	.	4.5315	0.12008	0.3206:0.165:0.5144:0.0	.	2504	Q9BXT5	TEX15_HUMAN	V	2504	ENSP00000256246:L2504V	ENSP00000256246:L2504V	L	-	1	0	TEX15	30814683	0.007000	0.16637	0.002000	0.10522	0.103000	0.19146	0.588000	0.23924	0.068000	0.16574	-0.145000	0.13849	CTT	TEX15	-	NULL		0.413	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30695141	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.001	C	C	30695141	G	C	30695141	3	2	174	1	0	0	0	0	1	0	0	0	15809	942	33	1	867	1	TEX15	8	30695141	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	556	30695141	115668881	81	32875										
MYST3	7994	genome.wustl.edu	37	chr8	41798407	41798407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aattggtggcgagcttgaccGagggctttccggctcctcct	13	12	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:41798407G>A	ENST00000396930.3	-	16	3535	c.2992C>T	c.(2992-2994)Cgg>Tgg	p.R998W	KAT6A_ENST00000265713.2_Missense_Mutation_p.R998W|KAT6A_ENST00000406337.1_Missense_Mutation_p.R998W	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	998					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAGCTTGACCGAGGGCTTTCC	0.557																																																	0													156	158	157					8																	41798407		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2992C>T	8.37:g.41798407G>A	ENSP00000380136:p.Arg998Trp		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R998W	ENST00000396930.3	37	c.2992	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629923	0.28978	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.60920	0.15;0.15;0.15	5.43	4.54	0.55810	.	0.000000	0.64402	D	0.000003	T	0.55752	0.1940	L	0.34521	1.04	0.50171	D	0.999851	D	0.76494	0.999	P	0.53185	0.72	T	0.59284	-0.7483	10	0.87932	D	0	-20.1173	9.9154	0.41430	0.072:0.0:0.788:0.14	.	998	Q92794	KAT6A_HUMAN	W	998;998;998;578	ENSP00000265713:R998W;ENSP00000385888:R998W;ENSP00000380136:R998W	ENSP00000265713:R998W	R	-	1	2	KAT6A	41917564	1.000000	0.71417	0.917000	0.36280	0.763000	0.43281	3.383000	0.52471	1.256000	0.44068	0.557000	0.71058	CGG	KAT6A	-	NULL		0.557	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	G	NM_006766		41798407	-1	no_errors	ENST00000265713	ensembl	human	known	70_37	missense	SNP	0.957	A	A	41798407	G	A	41798407	3	1	174	1	0	0	0	0	1	0	0	0	10127	1057	37	1	3034	1	MYST3	8	41798407	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	11103266	41798407	104565615	82	32876										
CHRNA6	8973	genome.wustl.edu	37	chr8	42611816	42611816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtcatacgtccaggaaccaaAttttagggaacagttttgat	9	7	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:42611816A>G	ENST00000276410.2	-	5	881	c.526T>C	c.(526-528)Ttt>Ctt	p.F176L	CHRNA6_ENST00000534622.1_Missense_Mutation_p.F161L|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	176					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CAGGAACCAAATTTTAGGGAA	0.373																																																	0													121	120	120					8																	42611816		2203	4300	6503	SO:0001583	missense	8973			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.526T>C	8.37:g.42611816A>G	ENSP00000276410:p.Phe176Leu		B2R8V4|B4DQH1	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F176L	ENST00000276410.2	37	c.526	CCDS6135.1	8	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840086	0.91117	.	.	ENSG00000147434	ENST00000276410;ENST00000534622;ENST00000533810	D;D;D	0.81739	-1.53;-1.53;-1.53	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92006	0.5614	10	0.59425	D	0.04	.	16.4311	0.83844	1.0:0.0:0.0:0.0	.	161;176	B4DQH1;Q15825	.;ACHA6_HUMAN	L	176;161;97	ENSP00000276410:F176L;ENSP00000433871:F161L;ENSP00000434659:F97L	ENSP00000276410:F176L	F	-	1	0	CHRNA6	42730973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.249000	0.95470	2.278000	0.76064	0.529000	0.55759	TTT	CHRNA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.373	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1	A			42611816	-1	no_errors	ENST00000276410	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42611816	A	G	42611816	3	3	174	1	0	0	0	0	1	0	0	0	3392	101	4	5	966	5	CHRNA6	8	42611816	Missense_Mutation	SNP	A	TCGA-MU-A51Y-01A-11D-A26G-09	813409	42611816	103752206	83	32877										
CLVS1	157807	genome.wustl.edu	37	chr8	62212607	62212607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atttttacgtacagatgatgCcttcatcctgagatttctcc	6	10	2	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:62212607C>T	ENST00000519846.1	+	3	693	c.221C>T	c.(220-222)gCc>gTc	p.A74V	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.A74V|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	74					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACAGATGATGCCTTCATCCTG	0.468																																																	0													120	102	108					8																	62212607		2203	4300	6503	SO:0001583	missense	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.221C>T	8.37:g.62212607C>T	ENSP00000428402:p.Ala74Val		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.A74V	ENST00000519846.1	37	c.221	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917982	0.92249	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	D;D	0.86769	-2.17;-2.17	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.052129	0.85682	D	0.000000	D	0.89100	0.6619	L	0.39514	1.22	0.58432	D	0.999997	D;P;P	0.62365	0.991;0.853;0.941	P;P;P	0.56216	0.781;0.794;0.614	D	0.87053	0.2148	10	0.33940	T	0.23	-3.5287	20.0313	0.97540	0.0:1.0:0.0:0.0	.	74;74;74	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	V	74	ENSP00000428402:A74V;ENSP00000325506:A74V	ENSP00000325506:A74V	A	+	2	0	CLVS1	62375161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.940000	0.56599	2.746000	0.94184	0.655000	0.94253	GCC	CLVS1	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom		0.468	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	HGNC	protein_coding	OTTHUMT00000378323.1	C	NM_173519		62212607	1	no_errors	ENST00000325897	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62212607	C	T	62212607	3	4	174	1	0	0	0	0	1	0	0	0	3576	739	26	4	223	4	CLVS1	8	62212607	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	19600791	62212607	84151415	84	32878										
STAU2	27067	genome.wustl.edu	37	chr8	74333613	74333613	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggttctgggagctgctagacGgccgagtttgatttcttgca	14	8	2	2	rs369462384		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:74333613G>C	ENST00000524300.1	-	15	2057	c.1707C>G	c.(1705-1707)gcC>gcG	p.A569A	STAU2-AS1_ENST00000517604.1_lincRNA|STAU2_ENST00000521210.1_Silent_p.A503A|STAU2_ENST00000522695.1_Silent_p.A537A|STAU2_ENST00000523558.1_Silent_p.A397A	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	569	Required for dendritic transport. {ECO:0000250}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GCTGCTAGACGGCCGAGTTTG	0.522																																																	0													93	85	87					8																	74333613		692	1591	2283	SO:0001819	synonymous_variant	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.1707C>G	8.37:g.74333613G>C			B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.A569	ENST00000524300.1	37	c.1707	CCDS55247.1	8																																																																																			STAU2	-	NULL		0.522	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379000.2	G	NM_001164380		74333613	-1	no_errors	ENST00000524300	ensembl	human	known	70_37	silent	SNP	1.000	C	C	74333613	G	C	74333613	2	2	174	1	0	0	0	0	0	0	0	1	15303	1103	39	2		2	STAU2	8	74333613	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	12121006	74333613	72030409	85	32879										
PKIA	5569	genome.wustl.edu	37	chr8	79514021	79514021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gttctacagaacaaagtgggGaagcccagggagaagcagca	14	8	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:79514021G>A	ENST00000396418.2	+	4	682	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	PKIA_ENST00000518467.1_Missense_Mutation_p.E66K|PKIA_ENST00000352966.5_Missense_Mutation_p.E66K	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	66					negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						ACAAAGTGGGGAAGCCCAGGG	0.408																																																	0													126	113	117					8																	79514021		2203	4300	6503	SO:0001583	missense	5569			S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.196G>A	8.37:g.79514021G>A	ENSP00000379696:p.Glu66Lys		P04541|Q6IAV2	Missense_Mutation	SNP	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	p.E66K	ENST00000396418.2	37	c.196	CCDS6222.1	8	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340881	0.41498	.	.	ENSG00000171033	ENST00000396418;ENST00000352966;ENST00000518467	.	.	.	5.14	5.14	0.70334	.	0.136505	0.46442	D	0.000284	T	0.62380	0.2423	.	.	.	0.51233	D	0.99991	P	0.45212	0.853	P	0.47673	0.554	T	0.61317	-0.7087	7	.	.	.	.	18.6139	0.91295	0.0:0.0:1.0:0.0	.	66	P61925	IPKA_HUMAN	K	66	.	.	E	+	1	0	PKIA	79676576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.050000	0.64251	2.395000	0.81488	0.655000	0.94253	GAA	PKIA	-	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI		0.408	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKIA	HGNC	protein_coding	OTTHUMT00000379420.1	G			79514021	1	no_errors	ENST00000352966	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79514021	G	A	79514021	3	1	174	1	0	0	0	0	1	0	0	0	11997	1175	41	1	202	1	PKIA	8	79514021	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	5180408	79514021	66850001	86	32880										
CPSF1	29894	genome.wustl.edu	37	chr8	145624707	145624707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ctgtgttcccgactgggcctCgctgccgtacacttcaatct	9	15	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr8:145624707C>T	ENST00000349769.3	-	14	1445	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	451					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GACTGGGCCTCGCTGCCGTAC	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)												0													46	39	41					8																	145624707		2203	4299	6502	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1351G>A	8.37:g.145624707C>T	ENSP00000339353:p.Glu451Lys		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.E451K	ENST00000349769.3	37	c.1351	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804430	0.70682	.	.	ENSG00000071894	ENST00000349769	T	0.47177	0.85	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.40543	1.245	0.80722	D	1	B	0.33748	0.423	B	0.34779	0.189	T	0.17837	-1.0356	10	0.07813	T	0.8	-8.2332	17.2513	0.87043	0.0:1.0:0.0:0.0	.	451	Q10570	CPSF1_HUMAN	K	451	ENSP00000339353:E451K	ENSP00000339353:E451K	E	-	1	0	CPSF1	145595515	1.000000	0.71417	0.996000	0.52242	0.126000	0.20510	5.465000	0.66725	2.664000	0.90586	0.455000	0.32223	GAG	CPSF1	-	NULL		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145624707	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	T	T	145624707	C	T	145624707	3	4	174	1	0	0	0	0	1	0	0	0	3829	893	31	1	3080	1	CPSF1	8	145624707	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	66110686	145624707	739315	87	32881										
IFNA8	3445	genome.wustl.edu	37	chr9	21409527	21409527	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aacttgaccagcagctgaatGacctggagtcctgtgtgatg	12	9	0	4			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:21409527G>A	ENST00000380205.1	+	1	382	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	118					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		GCAGCTGAATGACCTGGAGTC	0.498																																																	0													115	113	113					9																	21409527		2203	4300	6503	SO:0001583	missense	3445				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"Interferons"	5429	protein-coding gene	gene with protein product	"interferon alpha-B''", "interferon alpha type 201"	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.352G>A	9.37:g.21409527G>A	ENSP00000369553:p.Asp118Asn		P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.D118N	ENST00000380205.1	37	c.352	CCDS6507.1	9	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714317	0.30413	.	.	ENSG00000120242	ENST00000380205	T	0.03580	3.88	3.48	-1.21	0.09524	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.098820	0.06786	N	0.786104	T	0.08179	0.0204	M	0.83953	2.67	0.09310	N	1	B	0.13594	0.008	B	0.29663	0.105	T	0.44544	-0.9321	10	0.62326	D	0.03	.	5.6294	0.17501	0.2134:0.4966:0.29:0.0	.	118	P32881	IFNA8_HUMAN	N	118	ENSP00000369553:D118N	ENSP00000369553:D118N	D	+	1	0	IFNA8	21399527	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.524000	0.06222	-0.027000	0.13873	-0.333000	0.08304	GAC	IFNA8	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.498	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA8	HGNC	protein_coding	OTTHUMT00000051906.1	G	NM_002170		21409527	1	no_errors	ENST00000380205	ensembl	human	known	70_37	missense	SNP	0.000	A	A	21409527	G	A	21409527	3	1	174	1	0	0	0	0	1	0	0	0	7563	1290	45	1	354	1	IFNA8	9	21409527	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		21409527	119803904	88	32882										
TAF1L	138474	genome.wustl.edu	37	chr9	32633289	32633289	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggagcacgaaaaaggttgttCtcaagtgcctgcagtaattg	12	7	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:32633289C>T	ENST00000242310.4	-	1	2378	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	763					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAGGTTGTTCTCAAGTGCCT	0.438																																																	0													189	185	186					9																	32633289		2203	4300	6503	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2289G>A	9.37:g.32633289C>T			Q0VG57	Silent	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E763	ENST00000242310.4	37	c.2289	CCDS35003.1	9																																																																																			TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	C			32633289	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	silent	SNP	1.000	T	T	32633289	C	T	32633289	2	4	174	1	0	0	0	0	0	0	0	1	15553	912	32	1		1	TAF1L	9	32633289	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	11223762	32633289	108580142	89	32883										
ECM2	1842	genome.wustl.edu	37	chr9	95263075	95263075	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cttgtatcccaggtggtataGattttaagtcattgtgatcc	9	7	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:95263075G>C	ENST00000344604.5	-	9	2014	c.1865C>G	c.(1864-1866)tCt>tGt	p.S622C	ECM2_ENST00000444490.2_Missense_Mutation_p.S600C|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	622					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AGGTGGTATAGATTTTAAGTC	0.363																																																	0													91	93	93					9																	95263075		2203	4300	6503	SO:0001583	missense	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1865C>G	9.37:g.95263075G>C	ENSP00000344758:p.Ser622Cys		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.S622C	ENST00000344604.5	37	c.1865	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396331	0.25205	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.60040	0.22;0.22	5.12	3.24	0.37175	.	0.401448	0.28052	N	0.016789	T	0.57681	0.2070	M	0.83312	2.635	0.19575	N	0.999968	B;B;B	0.22851	0.025;0.076;0.037	B;B;B	0.28139	0.076;0.086;0.046	T	0.57585	-0.7786	10	0.66056	D	0.02	.	5.6418	0.17569	0.0746:0.14:0.6403:0.1451	.	622;600;600	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	C	600;622	ENSP00000393971:S600C;ENSP00000344758:S622C	ENSP00000344758:S622C	S	-	2	0	ECM2	94302896	0.003000	0.15002	0.903000	0.35520	0.661000	0.39034	0.977000	0.29475	0.637000	0.30526	0.591000	0.81541	TCT	ECM2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.363	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1	G	NM_001393		95263075	-1	no_errors	ENST00000344604	ensembl	human	known	70_37	missense	SNP	0.256	C	C	95263075	G	C	95263075	3	2	174	1	0	0	0	0	1	0	0	0	4908	942	33	1	242	1	ECM2	9	95263075	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	62629786	95263075	45950356	90	32884										
RAD23B	5887	genome.wustl.edu	37	chr9	110086276	110086276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gttactacagcagataggtcGagagaatcctcaattacttc	8	9	1	2	rs140228782		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:110086276G>A	ENST00000358015.3	+	8	1274	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	RAD23B_ENST00000416373.2_Missense_Mutation_p.R236Q	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	308	STI1.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGATAGGTCGAGAGAATCCT	0.418								Direct reversal of damage;Nucleotide excision repair (NER)																																									0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	147	132	137		923	5.5	1	9	dbSNP_134	137	0,8600		0,0,4300	no	missense	RAD23B	NM_002874.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	308/410	110086276	1,13005	2203	4300	6503	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.923G>A	9.37:g.110086276G>A	ENSP00000350708:p.Arg308Gln		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.R308Q	ENST00000358015.3	37	c.923	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958518	0.53400	2.27E-4	0.0	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.16324	2.37;2.35	5.51	5.51	0.81932	XPC-binding domain (3);Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	N	0.03253	-0.375	0.80722	D	1	D;B;P	0.76494	0.999;0.195;0.774	D;B;B	0.80764	0.994;0.094;0.203	T	0.06752	-1.0809	10	0.02654	T	1	-11.9961	19.7828	0.96424	0.0:0.0:1.0:0.0	.	287;308;308	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	Q	308;236	ENSP00000350708:R308Q;ENSP00000405623:R236Q	ENSP00000350708:R308Q	R	+	2	0	RAD23B	109126097	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.636000	0.83301	2.747000	0.94245	0.650000	0.86243	CGA	RAD23B	-	pfam_XPC-bd,superfamily_XPC-bd,smart_STI1_HS-bd,prints_Rad23,tigrfam_Rad23		0.418	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	G	NM_002874		110086276	1	no_errors	ENST00000358015	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110086276	G	A	110086276	3	1	174	1	0	0	0	0	1	0	0	0	13013	1058	37	1	953	1	RAD23B	9	110086276	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	14823201	110086276	31127155	91	32885										
SVEP1	79987	genome.wustl.edu	37	chr9	113170365	113170365	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtgtaagagaatttgccattCaaaatctccttgggtttcag	9	7	3	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:113170365C>G	ENST00000401783.2	-	38	7851	c.7515G>C	c.(7513-7515)ttG>ttC	p.L2505F	SVEP1_ENST00000374469.1_Missense_Mutation_p.L2482F|SVEP1_ENST00000297826.5_Missense_Mutation_p.L431F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2505	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTTGCCATTCAAAATCTCCT	0.483																																																	0													47	47	47					9																	113170365		1915	4124	6039	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7515G>C	9.37:g.113170365C>G	ENSP00000384917:p.Leu2505Phe		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.L2505F	ENST00000401783.2	37	c.7515	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678825	0.29783	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.63255	-0.03;-0.03;-0.03	5.85	-0.317	0.12736	Complement control module (2);Sushi/SCR/CCP (3);	0.543529	0.18926	N	0.127333	T	0.56455	0.1986	M	0.62209	1.925	0.58432	D	0.99999	P	0.42941	0.794	B	0.42163	0.378	T	0.56044	-0.8044	10	0.56958	D	0.05	.	8.7208	0.34439	0.0:0.5294:0.1053:0.3654	.	2505	Q4LDE5	SVEP1_HUMAN	F	2505;2482;431;177	ENSP00000384917:L2505F;ENSP00000363593:L2482F;ENSP00000297826:L431F	ENSP00000297826:L431F	L	-	3	2	SVEP1	112210186	0.590000	0.26815	0.143000	0.22291	0.823000	0.46562	0.921000	0.28718	0.031000	0.15407	0.655000	0.94253	TTG	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113170365	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	0.060	G	G	113170365	C	G	113170365	3	3	174	1	0	0	0	0	1	0	0	0	15450	825	29	1	3244	1	SVEP1	9	113170365	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	3084089	113170365	28043066	92	32886										
C5	727	genome.wustl.edu	37	chr9	123734236	123734236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tagccaagccactgccaaatCctgtactgacaatgaggtca	8	12	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:123734236C>T	ENST00000223642.1	-	31	4081	c.4052G>A	c.(4051-4053)gGa>gAa	p.G1351E		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1351					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	ACTGCCAAATCCTGTACTGAC	0.383																																																	0													96	91	93					9																	123734236		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4052G>A	9.37:g.123734236C>T	ENSP00000223642:p.Gly1351Glu		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.G1351E	ENST00000223642.1	37	c.4052	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738082	0.69304	.	.	ENSG00000106804	ENST00000223642	T	0.37915	1.17	5.62	5.62	0.85841	.	0.162786	0.53938	D	0.000048	T	0.59609	0.2206	M	0.77616	2.38	0.40260	D	0.978165	D	0.76494	0.999	D	0.66716	0.946	T	0.62923	-0.6751	10	0.62326	D	0.03	.	14.2361	0.65927	0.0:0.8507:0.1493:0.0	.	1351	P01031	CO5_HUMAN	E	1351	ENSP00000223642:G1351E	ENSP00000223642:G1351E	G	-	2	0	C5	122774057	0.952000	0.32445	0.930000	0.37139	0.862000	0.49288	2.997000	0.49457	2.818000	0.97014	0.655000	0.94253	GGA	C5	-	NULL		0.383	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	C	NM_001735		123734236	-1	no_errors	ENST00000223642	ensembl	human	known	70_37	missense	SNP	0.966	T	T	123734236	C	T	123734236	3	4	174	1	0	0	0	0	1	0	0	0	2285	855	30	1	1022	1	C5	9	123734236	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	10563871	123734236	17479195	93	32887										
C5	727	genome.wustl.edu	37	chr9	123737059	123737059	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agaaagttcttcatttacctCtactggcctcccaaggaaat	6	11	3	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:123737059C>T	ENST00000223642.1	-	30	4044	c.4015G>A	c.(4015-4017)Gag>Aag	p.E1339K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1339					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCATTTACCTCTACTGGCCTC	0.348																																																	0													110	114	113					9																	123737059		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4015G>A	9.37:g.123737059C>T	ENSP00000223642:p.Glu1339Lys		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.E1339K	ENST00000223642.1	37	c.4015	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968371	0.74131	.	.	ENSG00000106804	ENST00000223642	T	0.34472	1.36	5.71	5.71	0.89125	.	0.220504	0.44285	D	0.000469	T	0.56262	0.1973	M	0.79475	2.455	0.36442	D	0.865534	D	0.67145	0.996	P	0.58331	0.837	T	0.66468	-0.5916	10	0.59425	D	0.04	.	14.139	0.65308	0.0:0.9264:0.0:0.0736	.	1339	P01031	CO5_HUMAN	K	1339	ENSP00000223642:E1339K	ENSP00000223642:E1339K	E	-	1	0	C5	122776880	0.973000	0.33851	0.993000	0.49108	0.702000	0.40608	1.073000	0.30691	2.686000	0.91538	0.650000	0.86243	GAG	C5	-	NULL		0.348	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	C	NM_001735		123737059	-1	no_errors	ENST00000223642	ensembl	human	known	70_37	missense	SNP	0.997	T	T	123737059	C	T	123737059	3	4	174	1	0	0	0	0	1	0	0	0	2285	922	32	1	1063	1	C5	9	123737059	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	2823	123737059	17476372	94	32888										
SPTAN1	6709	genome.wustl.edu	37	chr9	131386727	131386727	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atgagaactcggccttccttCagttcaactggaaggcggac	11	11	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:131386727C>T	ENST00000372731.4	+	45	6048	c.5938C>T	c.(5938-5940)Cag>Tag	p.Q1980*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q1985*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.Q1985*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1980					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGCCTTCCTTCAGTTCAACTG	0.562																																					NSCLC(120;833 1744 2558 35612 37579)												0													68	56	60					9																	131386727		2203	4300	6503	SO:0001587	stop_gained	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5938C>T	9.37:g.131386727C>T	ENSP00000361816:p.Gln1980*		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.Q1985*	ENST00000372731.4	37	c.5953	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	47	13.709379	0.99758	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.5707	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	1985;1980;1985;1960;229	.	ENSP00000350882:Q1985X	Q	+	1	0	SPTAN1	130426548	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	7.445000	0.80570	2.709000	0.92574	0.655000	0.94253	CAG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.562	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131386727	1	no_errors	ENST00000358161	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	131386727	C	T	131386727	4	4	174	1	0	0	0	0	0	1	0	0	15147	827	29	1	6131	1	SPTAN1	9	131386727	Nonsense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	7649668	131386727	9826704	95	32889										
ZER1	10444	genome.wustl.edu	37	chr9	131503817	131503817	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	caggaggtggacactaccttCaggcagtccaggaagagctt	13	10	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:131503817C>T	ENST00000291900.2	-	11	2140	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	578					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ACACTACCTTCAGGCAGTCCA	0.567																																																	0													96	80	85					9																	131503817		2203	4300	6503	SO:0001819	synonymous_variant	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1734G>A	9.37:g.131503817C>T			O00156|Q5T272|Q5T273	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.L578	ENST00000291900.2	37	c.1734	CCDS6910.1	9																																																																																			ZER1	-	superfamily_ARM-type_fold,smart_Armadillo		0.567	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	HGNC	protein_coding	OTTHUMT00000054491.1	C	NM_006336		131503817	-1	no_errors	ENST00000291900	ensembl	human	known	70_37	silent	SNP	1.000	T	T	131503817	C	T	131503817	2	4	174	1	0	0	0	0	0	0	0	1	17655	813	29	1		1	ZER1	9	131503817	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	117090	131503817	9709614	96	32890										
C9orf98	158067	genome.wustl.edu	37	chr9	135601303	135601303	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtgggaggtggcttgtacatGaggtggtacctgcaagggag	19	5	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:135601303G>A	ENST00000298545.3	-	13	1733	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	404	Adenylate kinase 2.|LID 2. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GCTTGTACATGAGGTGGTACC	0.557																																																	0													79	69	72					9																	135601303		2203	4300	6503	SO:0001819	synonymous_variant	158067			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1212C>T	9.37:g.135601303G>A			A8K821|Q8N9W9	Silent	SNP	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.L404	ENST00000298545.3	37	c.1212	CCDS6954.1	9																																																																																			AK8	-	pfam_Adenylate_kin		0.557	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	G	NM_152572		135601303	-1	no_errors	ENST00000298545	ensembl	human	known	70_37	silent	SNP	0.999	A	A	135601303	G	A	135601303	2	1	174	1	0	0	0	0	0	0	0	1	2514	1277	45	1		1	C9orf98	9	135601303	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	4097486	135601303	5612128	97	32891										
SEC16A	9919	genome.wustl.edu	37	chr9	139371760	139371760	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggggctcacagggtccctgaGagctatctctggcatgtgtg	15	10	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:139371760G>C	ENST00000313050.7	-	1	381	c.308C>G	c.(307-309)tCt>tGt	p.S103C	SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGTCCCTGAGAGCTATCTCT	0.592																																																	0													71	76	74					9																	139371760		2012	4170	6182	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.308C>G	9.37:g.139371760G>C	ENSP00000325827:p.Ser103Cys		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.S103C	ENST00000313050.7	37	c.308	CCDS55351.1	9	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944942	0.18356	.	.	ENSG00000148396	ENST00000313050	T	0.29397	1.57	5.15	4.24	0.50183	.	.	.	.	.	T	0.21550	0.0519	N	0.24115	0.695	0.29603	N	0.847543	B	0.18741	0.03	B	0.14578	0.011	T	0.11324	-1.0592	8	.	.	.	.	13.4044	0.60903	0.0:0.1574:0.8426:0.0	.	103	F1T0I1	.	C	103	ENSP00000325827:S103C	.	S	-	2	0	SEC16A	138491581	0.012000	0.17670	0.003000	0.11579	0.181000	0.23173	1.898000	0.39809	1.292000	0.44672	0.655000	0.94253	TCT	SEC16A	-	NULL		0.592	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16A	HGNC	protein_coding		G	XM_088459		139371760	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	0.011	C	C	139371760	G	C	139371760	3	2	174	1	0	0	0	0	1	0	0	0	14016	942	33	1	6885	1	SEC16A	9	139371760	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	3770457	139371760	1841671	98	32892										
SEC16A	9919	genome.wustl.edu	37	chr9	139371806	139371806	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aacaagcaaaccggggtgctGagaaaaccctgcgggggctg	15	10	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr9:139371806G>C	ENST00000313050.7	-	1	335	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000431893.2_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCGGGGTGCTGAGAAAACCCT	0.572																																																	0													70	75	73					9																	139371806		1971	4137	6108	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.262C>G	9.37:g.139371806G>C	ENSP00000325827:p.Gln88Glu		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.Q88E	ENST00000313050.7	37	c.262	CCDS55351.1	9	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680426	0.47886	.	.	ENSG00000148396	ENST00000313050	T	0.29655	1.56	5.69	5.69	0.88448	.	.	.	.	.	T	0.46151	0.1378	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.15694	-1.0428	8	.	.	.	.	18.8187	0.92088	0.0:0.0:1.0:0.0	.	88	F1T0I1	.	E	88	ENSP00000325827:Q88E	.	Q	-	1	0	SEC16A	138491627	1.000000	0.71417	0.940000	0.37924	0.087000	0.18053	9.179000	0.94861	2.692000	0.91855	0.655000	0.94253	CAG	SEC16A	-	NULL		0.572	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16A	HGNC	protein_coding		G	XM_088459		139371806	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139371806	G	C	139371806	3	2	174	1	0	0	0	0	1	0	0	0	14016	1299	45	1	6931	1	SEC16A	9	139371806	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	46	139371806	1841625	99	32893										
ITIH5	80760	genome.wustl.edu	37	chr10	7621936	7621936	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ccatccgtcaggaagacgatGagggacacgctccggtctcc	12	14	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr10:7621936G>A	ENST00000256861.6	-	9	1278	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	ITIH5_ENST00000446830.2_Silent_p.L182L|ITIH5_ENST00000397145.2_Silent_p.L400L|ITIH5_ENST00000397146.2_Silent_p.L400L|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.L186L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	400	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGAAGACGATGAGGGACACGC	0.627																																																	0													91	80	84					10																	7621936		2203	4300	6503	SO:0001819	synonymous_variant	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1200C>T	10.37:g.7621936G>A			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.L400	ENST00000256861.6	37	c.1200		10																																																																																			ITIH5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.627	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	G	NM_030569		7621936	-1	no_errors	ENST00000256861	ensembl	human	known	70_37	silent	SNP	0.392	A	A	7621936	G	A	7621936	2	1	174	1	0	0	0	0	0	0	0	1	7927	1277	45	1		1	ITIH5	10	7621936	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		7621936	127912811	100	32894										
FAM21C	253725	genome.wustl.edu	37	chr10	46280987	46280987	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aaaagagagtagtgaaaaaaGaccactctgttaactctttc	7	7	2	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr10:46280987G>C	ENST00000336378.4	+	26	2831	c.2713G>C	c.(2713-2715)Gac>Cac	p.D905H	FAM21C_ENST00000374362.2_Missense_Mutation_p.D907H|FAM21C_ENST00000537517.1_Missense_Mutation_p.D832H|FAM21C_ENST00000540872.1_Intron|FAM21C_ENST00000359860.4_Missense_Mutation_p.D849H	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	905					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGTGAAAAAAGACCACTCTGT	0.328																																																	0													111	97	101					10																	46280987		1806	4072	5878	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2713G>C	10.37:g.46280987G>C	ENSP00000337541:p.Asp905His		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	NULL	p.D907H	ENST00000336378.4	37	c.2719		10	.	.	.	.	.	.	.	.	.	.	.	12.95	2.091187	0.36855	.	.	ENSG00000172661	ENST00000336378;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993;ENST00000374359	.	.	.	3.66	3.66	0.41972	.	0.820766	0.11680	N	0.539924	T	0.77391	0.4123	M	0.75447	2.3	0.39690	D	0.971021	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.91635	0.742;0.999;0.969;0.969	T	0.76669	-0.2874	9	0.54805	T	0.06	-2.9984	11.0336	0.47787	0.0:0.0:1.0:0.0	.	97;832;907;905	B3KMC4;F5H871;Q9Y4E1-4;Q9Y4E1	.;.;.;FA21C_HUMAN	H	905;832;907;907;849;819;97	.	ENSP00000337541:D905H	D	+	1	0	FAM21C	45600993	1.000000	0.71417	0.992000	0.48379	0.316000	0.28119	3.203000	0.51075	2.050000	0.60909	0.561000	0.74099	GAC	FAM21C	-	NULL		0.328	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	FAM21C	HGNC	protein_coding		G			46280987	1	no_errors	ENST00000374362	ensembl	human	known	70_37	missense	SNP	0.993	C	C	46280987	G	C	46280987	3	2	174	1	0	0	0	0	1	0	0	0	5557	942	33	1	2821	1	FAM21C	10	46280987	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	38659051	46280987	89253760	101	32895										
RPS24	6229	genome.wustl.edu	37	chr10	79814352	79814352	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cccaggaagagagatgcacaGatgtgaagaactcgaaggca	13	8	0	5			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr10:79814352G>C	ENST00000440692.1	+	5	596	c.454G>C	c.(454-456)Gat>Cat	p.D152H	RPS24_ENST00000476545.1_3'UTR	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	0					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GAGATGCACAGATGTGAAGAA	0.542																																																	0													57	54	55					10																	79814352		692	1591	2283	SO:0001583	missense	6229			AB007159	CCDS7355.1, CCDS7356.1, CCDS44443.1	10q22	2011-04-06			ENSG00000138326	ENSG00000138326		"S ribosomal proteins"	10411	protein-coding gene	gene with protein product		602412				9027498, 9582194	Standard	NM_001142283		Approved	S24	uc001jzs.3	P62847	OTTHUMG00000018549	ENST00000440692.1:c.454G>C	10.37:g.79814352G>C	ENSP00000414321:p.Asp152His		E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Missense_Mutation	SNP	pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom	p.D152H	ENST00000440692.1	37	c.454	CCDS44443.1	10	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117495	0.20877	.	.	ENSG00000138326	ENST00000440692	.	.	.	2.46	1.47	0.22746	.	.	.	.	.	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	P	0.35982	0.531	B	0.32864	0.154	T	0.18650	-1.0330	7	.	.	.	.	6.1015	0.20049	0.0:0.0:0.6971:0.3029	.	152	E7EPK6	.	H	152	.	.	D	+	1	0	RPS24	79484358	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.388000	0.20735	0.542000	0.28846	0.563000	0.77884	GAT	RPS24	-	NULL		0.542	RPS24-202	KNOWN	basic|CCDS	protein_coding	RPS24	HGNC	protein_coding		G	NM_001026		79814352	1	no_errors	ENST00000440692	ensembl	human	known	70_37	missense	SNP	0.001	C	C	79814352	G	C	79814352	3	2	174	1	0	0	0	0	1	0	0	0	13665	942	33	1	511	1	RPS24	10	79814352	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	33533365	79814352	55720395	102	32896										
LRRC56	115399	genome.wustl.edu	37	chr11	544754	544754	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aacctggaccaactgaagctGaacggcagccacctgggctc	11	14	0	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:544754G>A	ENST00000270115.7	+	6	800	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	100										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACTGAAGCTGAACGGCAGCC	0.701																																																	0													45	42	43					11																	544754		2203	4299	6502	SO:0001819	synonymous_variant	115399				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.300G>A	11.37:g.544754G>A			Q8N3Q4	Silent	SNP	NULL	p.L100	ENST00000270115.7	37	c.300	CCDS7700.1	11																																																																																			LRRC56	-	NULL		0.701	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	G	NM_198075		544754	1	no_errors	ENST00000270115	ensembl	human	known	70_37	silent	SNP	0.997	A	A	544754	G	A	544754	2	1	174	1	0	0	0	0	0	0	0	1	9035	1277	45	1		1	LRRC56	11	544754	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		544754	134461762	103	32897										
OR51V1	283111	genome.wustl.edu	37	chr11	5220979	5220979	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tatctctcaatatcttttcaGagaaaagagtctaagcattc	5	8	5	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:5220979G>A	ENST00000321255.1	-	1	951	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	318					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTTTTCAGAGAAAAGAGT	0.328																																																	0													51	53	53					11																	5220979		2201	4298	6499	SO:0001819	synonymous_variant	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.952C>T	11.37:g.5220979G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L318	ENST00000321255.1	37	c.952	CCDS31375.1	11																																																																																			OR51V1	-	NULL		0.328	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	G	NM_001004760		5220979	-1	no_errors	ENST00000321255	ensembl	human	known	70_37	silent	SNP	0.000	A	A	5220979	G	A	5220979	2	1	174	1	0	0	0	0	0	0	0	1	11131	933	33	1		1	OR51V1	11	5220979	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	4676225	5220979	129785537	104	32898										
DCDC1	341019	genome.wustl.edu	37	chr11	31329188	31329188	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gagaacagctttgattacctCagttgacccactggagcact	9	11	1	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:31329188C>T	ENST00000452803.1	-	4	633	c.432G>A	c.(430-432)ctG>ctA	p.L144L	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000597505.1_Silent_p.L144L	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	144					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTGATTACCTCAGTTGACCCA	0.353																																																	0													134	130	132					11																	31329188		2202	4299	6501	SO:0001819	synonymous_variant	100506627			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.432G>A	11.37:g.31329188C>T			A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	superfamily_Doublecortin_dom,pfscan_Doublecortin_dom	p.L144	ENST00000452803.1	37	c.432	CCDS7872.1	11																																																																																			DCDC5	-	NULL		0.353	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC5	HGNC	protein_coding	OTTHUMT00000316531.1	C	NM_181807		31329188	-1	no_errors	ENST00000452803	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31329188	C	T	31329188	2	4	174	1	0	0	0	0	0	0	0	1	4289	813	29	1		1	DCDC1	11	31329188	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	26108209	31329188	103677328	105	32899										
SF3B2	10992	genome.wustl.edu	37	chr11	65827432	65827432	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cccttcgagctgccagacttCatcaaacgcacaggcatcca	7	16	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:65827432C>T	ENST00000322535.6	+	13	1630	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SF3B2_ENST00000528302.1_Silent_p.F510F	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	527					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGCCAGACTTCATCAAACGCA	0.607																																																	0													58	55	56					11																	65827432		2201	4295	6496	SO:0001819	synonymous_variant	10992			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1581C>T	11.37:g.65827432C>T			A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.F527	ENST00000322535.6	37	c.1581	CCDS31612.1	11																																																																																			SF3B2	-	pfam_DUF382		0.607	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	C			65827432	1	no_errors	ENST00000322535	ensembl	human	known	70_37	silent	SNP	1.000	T	T	65827432	C	T	65827432	2	4	174	1	0	0	0	0	0	0	0	1	14181	825	29	1		1	SF3B2	11	65827432	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	34498244	65827432	69179084	106	32900										
KLC2	64837	genome.wustl.edu	37	chr11	66030328	66030328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtgtctggtcagcatgggggCtacgagatcccggcccggct	16	12	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:66030328C>T	ENST00000417856.1	+	5	816	c.573C>T	c.(571-573)ggC>ggT	p.G191G	RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394078.1_Silent_p.G191G|KLC2_ENST00000421552.1_Silent_p.G114G|KLC2_ENST00000394067.2_Silent_p.G191G|KLC2_ENST00000316924.5_Silent_p.G191G|KLC2_ENST00000394065.2_Silent_p.G52G|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394066.2_Silent_p.G114G	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	191					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCATGGGGGCTACGAGATCC	0.647																																																	0													97	94	95					11																	66030328		2200	4295	6495	SO:0001819	synonymous_variant	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.573C>T	11.37:g.66030328C>T			A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.G191	ENST00000417856.1	37	c.573	CCDS8130.1	11																																																																																			KLC2	-	pfam_Rabaptin_Rab5-bd_dom,prints_Kinesin_light		0.647	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	C	NM_022822		66030328	1	no_errors	ENST00000316924	ensembl	human	known	70_37	silent	SNP	1.000	T	T	66030328	C	T	66030328	2	4	174	1	0	0	0	0	0	0	0	1	8354	784	28	4		4	KLC2	11	66030328	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	202896	66030328	68976188	107	32901										
CCDC87	55231	genome.wustl.edu	37	chr11	66358279	66358279	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ccctcaaaccactctagtctCgccagcaatgcctcccgcag	6	19	3	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:66358279C>T	ENST00000333861.3	-	1	2275	c.2208G>A	c.(2206-2208)gcG>gcA	p.A736A	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	736					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACTCTAGTCTCGCCAGCAATG	0.542																																																	0													102	111	108					11																	66358279		2200	4295	6495	SO:0001819	synonymous_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2208G>A	11.37:g.66358279C>T			Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.A736	ENST00000333861.3	37	c.2208	CCDS8145.1	11																																																																																			CCDC87	-	pfam_MAP65_Ase1_PRC1		0.542	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	C	NM_018219		66358279	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	silent	SNP	0.000	T	T	66358279	C	T	66358279	2	4	174	1	0	0	0	0	0	0	0	1	2867	871	31	1		1	CCDC87	11	66358279	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	327951	66358279	68648237	108	32902										
C11orf80	79703	genome.wustl.edu	37	chr11	66610676	66610676	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aggaggtctccaacctgtcaGagtggctgagtcccagccct	12	13	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr11:66610676G>A	ENST00000360962.4	+	17	2012	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	RCE1_ENST00000525356.1_5'Flank|C11orf80_ENST00000346672.4_Missense_Mutation_p.E478K|RCE1_ENST00000309657.3_5'Flank|RCE1_ENST00000524506.1_5'Flank|C11orf80_ENST00000527634.1_Missense_Mutation_p.E452K|C11orf80_ENST00000540737.1_Missense_Mutation_p.E503K|C11orf80_ENST00000525449.2_Missense_Mutation_p.E477K|C11orf80_ENST00000532565.2_Missense_Mutation_p.E451K	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	669										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CAACCTGTCAGAGTGGCTGAG	0.677																																																	0													15	19	18					11																	66610676		1954	4136	6090	SO:0001583	missense	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.2005G>A	11.37:g.66610676G>A	ENSP00000354227:p.Glu669Lys		Q9H677	Missense_Mutation	SNP	NULL	p.E669K	ENST00000360962.4	37	c.2005	CCDS53664.1	11	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005667	0.54254	.	.	ENSG00000173715	ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449	T	0.44482	0.92	4.13	3.22	0.36961	.	0.000000	0.41294	D	0.000907	T	0.25344	0.0616	L	0.29908	0.895	0.80722	D	1	B;B;B;B;P	0.36144	0.087;0.087;0.291;0.291;0.539	B;B;B;B;B	0.27796	0.043;0.043;0.049;0.049;0.083	T	0.09122	-1.0689	10	0.87932	D	0	-13.4158	7.6346	0.28259	0.1163:0.0:0.8837:0.0	.	503;478;452;514;504	B4DXL1;C9JZP8;E9PKM2;Q8N6T0;E9PKZ8	.;.;.;CK080_HUMAN;.	K	669;478;452;504;503;478	ENSP00000354227:E669K	ENSP00000317408:E478K	E	+	1	0	C11orf80	66367252	0.999000	0.42202	0.363000	0.25875	0.001000	0.01503	3.538000	0.53597	0.960000	0.38005	-0.229000	0.12294	GAG	C11orf80	-	NULL		0.677	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding		G	NM_024650		66610676	1	no_errors	ENST00000360962	ensembl	human	known	70_37	missense	SNP	0.709	A	A	66610676	G	A	66610676	3	1	174	1	0	0	0	0	1	0	0	0	1668	943	33	1	2071	1	C11orf80	11	66610676	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	252397	66610676	68395840	109	32903										
RECQL	5965	genome.wustl.edu	37	chr12	21636484	21636484	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggagtttttatttaccatttCagcatgaacccatttaacat	5	8	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:21636484C>T	ENST00000444129.2	-	6	994	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	RECQL_ENST00000421138.2_Missense_Mutation_p.E176K	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	176	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTACCATTTCAGCATGAACC	0.318								Other identified genes with known or suspected DNA repair function																																									0													89	81	84					12																	21636484		2203	4300	6503	SO:0001583	missense	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.526G>A	12.37:g.21636484C>T	ENSP00000416739:p.Glu176Lys		A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E176K	ENST00000444129.2	37	c.526	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342792	0.61073	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748	T;T;T;T	0.76186	-1.0;-1.0;2.48;2.48	4.67	4.67	0.58626	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.158580	0.56097	D	0.000035	T	0.58337	0.2115	N	0.17838	0.53	0.41044	D	0.985256	B	0.23891	0.093	B	0.21151	0.033	T	0.54938	-0.8218	10	0.12766	T	0.61	-0.237	15.0145	0.71573	0.0:0.8577:0.1423:0.0	.	176	P46063	RECQ1_HUMAN	K	176	ENSP00000416739:E176K;ENSP00000395449:E176K;ENSP00000379400:E176K;ENSP00000318727:E176K	ENSP00000318727:E176K	E	-	1	0	RECQL	21527751	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.684000	0.54671	2.413000	0.81919	0.563000	0.77884	GAA	RECQL	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ		0.318	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	C	NM_002907		21636484	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21636484	C	T	21636484	3	4	174	1	0	0	0	0	1	0	0	0	13231	835	29	1	1463	1	RECQL	12	21636484	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09		21636484	112215411	110	32904										
SOX5	6660	genome.wustl.edu	37	chr12	23689418	23689418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtactgccgcatttcctgccGcctgttgcgcatgattgcct	10	14	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:23689418G>A	ENST00000451604.2	-	14	2058	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	SOX5_ENST00000537393.1_Missense_Mutation_p.R618W|SOX5_ENST00000546136.1_Missense_Mutation_p.R640W|SOX5_ENST00000541536.1_Missense_Mutation_p.R532W|SOX5_ENST00000381381.2_Missense_Mutation_p.R532W|SOX5_ENST00000396007.2_Missense_Mutation_p.R267W|SOX5_ENST00000309359.1_Missense_Mutation_p.R640W|SOX5_ENST00000545921.1_Missense_Mutation_p.R643W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	653					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATTTCCTGCCGCCTGTTGCGC	0.468																																																	0													105	86	92					12																	23689418		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1957C>T	12.37:g.23689418G>A	ENSP00000398273:p.Arg653Trp		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R653W	ENST00000451604.2	37	c.1957	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621650	0.66787	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.38	0.644	0.17776	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.83483	2.645	0.36859	D	0.888322	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76575	0.988;0.987;0.799	T	0.82800	-0.0278	10	0.87932	D	0	.	16.3039	0.82841	0.0:0.0:0.2969:0.7031	.	532;653;267	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	W	640;640;532;653;618;532;267;643	ENSP00000437487:R640W;ENSP00000308927:R640W;ENSP00000370788:R532W;ENSP00000398273:R653W;ENSP00000439832:R618W;ENSP00000441973:R532W;ENSP00000379328:R267W;ENSP00000443520:R643W	ENSP00000308927:R640W	R	-	1	2	SOX5	23580685	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	1.344000	0.33941	-0.044000	0.13491	-0.284000	0.09977	CGG	SOX5	-	NULL		0.468	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	G	NM_006940		23689418	-1	no_errors	ENST00000451604	ensembl	human	known	70_37	missense	SNP	0.994	A	A	23689418	G	A	23689418	3	1	174	1	0	0	0	0	1	0	0	0	14984	1086	38	2	342	2	SOX5	12	23689418	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	2052934	23689418	110162477	111	32905										
KIF21A	55605	genome.wustl.edu	37	chr12	39763563	39763563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggcattcactttaaaatctgGagcaggaagcccatttttaa	8	8	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:39763563G>A	ENST00000361418.5	-	3	433	c.418C>T	c.(418-420)Cca>Tca	p.P140S	KIF21A_ENST00000395670.3_Missense_Mutation_p.P140S|KIF21A_ENST00000544797.2_Missense_Mutation_p.P140S|KIF21A_ENST00000361961.3_Missense_Mutation_p.P140S|KIF21A_ENST00000541463.2_Missense_Mutation_p.P140S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	140	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTAAAATCTGGAGCAGGAAGC	0.299																																																	0													68	67	67					12																	39763563		2202	4299	6501	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.418C>T	12.37:g.39763563G>A	ENSP00000354878:p.Pro140Ser		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.P140S	ENST00000361418.5	37	c.418	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467534	0.84533	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.19	5.19	0.71726	Kinesin, motor domain (4);	0.000000	0.48767	D	0.000175	T	0.74824	0.3767	N	0.25286	0.73	0.80722	D	1	P;P;B;P;B	0.45768	0.721;0.474;0.34;0.866;0.022	P;B;B;P;B	0.59643	0.861;0.305;0.421;0.676;0.098	T	0.78267	-0.2270	10	0.87932	D	0	.	19.1033	0.93282	0.0:0.0:1.0:0.0	.	140;140;140;140;140	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	S	140	ENSP00000354851:P140S;ENSP00000379029:P140S;ENSP00000445606:P140S;ENSP00000354878:P140S;ENSP00000438075:P140S	ENSP00000344501:P140S	P	-	1	0	KIF21A	38049830	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.063000	0.76714	2.587000	0.87381	0.557000	0.71058	CCA	KIF21A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.299	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	G	NM_017641		39763563	-1	no_errors	ENST00000395670	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39763563	G	A	39763563	3	1	174	1	0	0	0	0	1	0	0	0	8308	1174	41	1	4750	1	KIF21A	12	39763563	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	16074145	39763563	94088332	112	32906										
SLC4A8	9498	genome.wustl.edu	37	chr12	51888824	51888824	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ctgcgcaaagtgcacctcttCaccctcatccagttgacctg	7	16	3	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:51888824C>T	ENST00000453097.2	+	21	3082	c.2865C>T	c.(2863-2865)ttC>ttT	p.F955F	SLC4A8_ENST00000358657.3_Silent_p.F982F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGCACCTCTTCACCCTCATCC	0.498																																																	0													138	114	122					12																	51888824		2203	4300	6503	SO:0001819	synonymous_variant	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2865C>T	12.37:g.51888824C>T				Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.F955	ENST00000453097.2	37	c.2865	CCDS44890.1	12																																																																																			SLC4A8	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.498	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	C	NM_004858		51888824	1	no_errors	ENST00000453097	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51888824	C	T	51888824	2	4	174	1	0	0	0	0	0	0	0	1	14689	825	29	1		1	SLC4A8	12	51888824	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	12125261	51888824	81963071	113	32907										
LACRT	90070	genome.wustl.edu	37	chr12	55027018	55027018	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cgagtcagaggaggcatcttCtgcaatgggggaaacatgcc	14	9	3	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:55027018C>A	ENST00000257867.4	-	2	112		c.e2-1		LACRT_ENST00000547511.1_Splice_Site	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin						calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GAGGCATCTTCTGCAATGGGG	0.592																																																	0													142	126	132					12																	55027018		2203	4300	6503	SO:0001630	splice_region_variant	90070			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.59-1G>T	12.37:g.55027018C>A				Splice_Site	SNP	-	e2-1	ENST00000257867.4	37	c.59-1	CCDS8883.1	12	.	.	.	.	.	.	.	.	.	.	C	9.886	1.202801	0.22121	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	2.7	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0419	0.36322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LACRT	53313285	1.000000	0.71417	0.611000	0.29010	0.192000	0.23643	2.639000	0.46570	1.831000	0.53308	0.563000	0.77884	.	LACRT	-	-		0.592	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACRT	HGNC	protein_coding	OTTHUMT00000406615.1	C	NM_033277	Intron	55027018	-1	no_errors	ENST00000257867	ensembl	human	known	70_37	splice_site	SNP	0.674	A	A	55027018	C	A	55027018	5	1	174	1	0	0	0	0	0	0	1	0	8616	927	32	3	374	3	LACRT	12	55027018	Splice_Site	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	3138194	55027018	78824877	114	32908										
SUOX	6821	genome.wustl.edu	37	chr12	56398554	56398554	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gcagggctgtgatccgggtgGatgtgtctctggatgggggc	20	7	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:56398554G>C	ENST00000394109.3	+	3	2105	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000356124.4_Missense_Mutation_p.D461H|SUOX_ENST00000394115.2_Missense_Mutation_p.D461H|SUOX_ENST00000266971.3_Missense_Mutation_p.D461H|SUOX_ENST00000548274.1_Missense_Mutation_p.D461H			P51687	SUOX_HUMAN	sulfite oxidase	461	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GATCCGGGTGGATGTGTCTCT	0.612																																																	0													177	159	165					12																	56398554		2203	4300	6503	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1381G>C	12.37:g.56398554G>C	ENSP00000377668:p.Asp461His			Missense_Mutation	SNP	pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5	p.D461H	ENST00000394109.3	37	c.1381	CCDS8901.2	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099717	0.76983	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	4.96	4.96	0.65561	Immunoglobulin E-set (1);Moybdenum cofactor oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.93015	0.7777	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93803	0.7103	10	0.87932	D	0	-13.8378	15.604	0.76649	0.0:0.0:1.0:0.0	.	461	P51687	SUOX_HUMAN	H	461	ENSP00000348440:D461H;ENSP00000266971:D461H;ENSP00000377674:D461H;ENSP00000450245:D461H;ENSP00000377668:D461H	ENSP00000266971:D461H	D	+	1	0	SUOX	54684821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.917000	0.75782	2.752000	0.94435	0.467000	0.42956	GAT	SUOX	-	pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk		0.612	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	HGNC	protein_coding	OTTHUMT00000250309.1	G	NM_000456		56398554	1	no_errors	ENST00000266971	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56398554	G	C	56398554	3	2	174	1	0	0	0	0	1	0	0	0	15425	1174	41	1	1391	1	SUOX	12	56398554	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	1371536	56398554	77453341	115	32909										
SMARCC2	6601	genome.wustl.edu	37	chr12	56558384	56558384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gatgatggatggagcaggagGaggaggaggaggcggcatgc	22	4	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:56558384G>T	ENST00000267064.4	-	27	3357	c.3271C>A	c.(3271-3273)Cct>Act	p.P1091T	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P1122T	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1091	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGAGCAGGAGGAGGAGGAGGA	0.592																																																	0													92	81	85					12																	56558384		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3271C>A	12.37:g.56558384G>T	ENSP00000267064:p.Pro1091Thr		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.P1091T	ENST00000267064.4	37	c.3271	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	9.953	1.220698	0.22457	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.46451	0.88;0.87	5.03	3.12	0.35913	.	0.425407	0.20346	N	0.094150	T	0.22627	0.0546	N	0.08118	0	0.33644	D	0.607655	B	0.28850	0.225	B	0.30943	0.122	T	0.26430	-1.0103	9	.	.	.	-5.993	11.7544	0.51868	0.0:0.3588:0.6412:0.0	.	1091	Q8TAQ2	SMRC2_HUMAN	T	1122;1091	ENSP00000449396:P1122T;ENSP00000267064:P1091T	.	P	-	1	0	SMARCC2	54844651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.350000	0.52224	0.595000	0.29777	0.563000	0.77884	CCT	SMARCC2	-	NULL		0.592	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	G			56558384	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56558384	G	T	56558384	3	4	174	1	0	0	0	0	1	0	0	0	14806	1174	41	3	381	3	SMARCC2	12	56558384	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	159830	56558384	77293511	116	32910										
SRGAP1	57522	genome.wustl.edu	37	chr12	64436615	64436615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atgcagagagcatcagtgcaGagagcaagctgaaagaggcc	14	8	1	4			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:64436615G>C	ENST00000355086.3	+	5	1059	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E139Q|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E179Q|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	179	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CATCAGTGCAGAGAGCAAGCT	0.438																																																	0													97	88	91					12																	64436615		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.535G>C	12.37:g.64436615G>C	ENSP00000347198:p.Glu179Gln		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E179Q	ENST00000355086.3	37	c.535	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606869	0.87157	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.41758	0.99;0.99;2.52	5.56	5.56	0.83823	.	0.000000	0.35013	U	0.003503	T	0.45135	0.1327	L	0.41824	1.3	0.80722	D	1	B;B;B	0.32620	0.075;0.112;0.378	B;B;B	0.41510	0.14;0.272;0.359	T	0.16719	-1.0393	9	.	.	.	.	19.9239	0.97097	0.0:0.0:1.0:0.0	.	179;139;179	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	Q	179;179;139	ENSP00000347198:E179Q;ENSP00000350480:E179Q;ENSP00000437948:E139Q	.	E	+	1	0	SRGAP1	62722882	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.787000	0.99055	2.797000	0.96272	0.563000	0.77884	GAG	SRGAP1	-	NULL		0.438	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64436615	1	no_errors	ENST00000355086	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64436615	G	C	64436615	3	2	174	1	0	0	0	0	1	0	0	0	15175	943	33	1	553	1	SRGAP1	12	64436615	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	7878231	64436615	69415280	117	32911										
CCT2	10576	genome.wustl.edu	37	chr12	69991758	69991758	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	taatctttaggctgttctgaGatgttgatggctcatgctgt	11	6	3	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:69991758G>C	ENST00000299300.6	+	13	1430	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	CCT2_ENST00000543146.2_Missense_Mutation_p.E367D|CCT2_ENST00000544368.2_Missense_Mutation_p.E414D	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	414					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTGTTCTGAGATGTTGATGG	0.373																																																	0													44	40	41					12																	69991758		2203	4300	6503	SO:0001583	missense	10576			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1242G>C	12.37:g.69991758G>C	ENSP00000299300:p.Glu414Asp		A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.E414D	ENST00000299300.6	37	c.1242	CCDS8991.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429058	0.83667	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	D;D;D	0.83506	-1.73;-1.73;-1.73	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	M	0.94021	3.485	0.80722	D	1	P;D	0.53619	0.856;0.961	P;D	0.66847	0.543;0.947	D	0.93614	0.6941	9	.	.	.	-12.6021	13.8591	0.63548	0.0717:0.0:0.9283:0.0	.	414;414	F5GWF6;P78371	.;TCPB_HUMAN	D	414;414;367	ENSP00000299300:E414D;ENSP00000441847:E414D;ENSP00000445471:E367D	.	E	+	3	2	CCT2	68278025	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.369000	0.59511	2.941000	0.99782	0.655000	0.94253	GAG	CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_beta		0.373	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	G	NM_006431		69991758	1	no_errors	ENST00000299300	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69991758	G	C	69991758	3	2	174	1	0	0	0	0	1	0	0	0	2958	933	33	1	1292	1	CCT2	12	69991758	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	5555143	69991758	63860137	118	32912										
GAS2L3	283431	genome.wustl.edu	37	chr12	101012237	101012237	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tggttttcagatacggggttGagccaccagtgttagtaaaa	12	6	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:101012237G>A	ENST00000539410.1	+	7	906	c.520G>A	c.(520-522)Gag>Aag	p.E174K	GAS2L3_ENST00000547754.1_Missense_Mutation_p.E174K|GAS2L3_ENST00000266754.5_Missense_Mutation_p.E174K|GAS2L3_ENST00000537247.1_Missense_Mutation_p.E70K			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	174					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						ATACGGGGTTGAGCCACCAGT	0.393																																																	0													123	132	129					12																	101012237		2203	4300	6503	SO:0001583	missense	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.520G>A	12.37:g.101012237G>A	ENSP00000439672:p.Glu174Lys		B2RCN2	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.E174K	ENST00000539410.1	37	c.520	CCDS9079.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.380119	0.95945	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.27	5.27	0.74061	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	M	0.78049	2.395	0.53005	D	0.999961	D	0.54964	0.969	P	0.57620	0.824	T	0.61282	-0.7094	10	0.36615	T	0.2	-16.0408	19.2547	0.93941	0.0:0.0:1.0:0.0	.	174	Q86XJ1	GA2L3_HUMAN	K	174;174;70;174	ENSP00000266754:E174K;ENSP00000448955:E174K;ENSP00000442406:E70K;ENSP00000439672:E174K	ENSP00000266754:E174K	E	+	1	0	GAS2L3	99536368	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.862000	0.92283	2.616000	0.88540	0.484000	0.47621	GAG	GAS2L3	-	superfamily_CH-domain		0.393	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	G	NM_174942		101012237	1	no_errors	ENST00000266754	ensembl	human	known	70_37	missense	SNP	1.000	A	A	101012237	G	A	101012237	3	1	174	1	0	0	0	0	1	0	0	0	6267	1291	45	1	542	1	GAS2L3	12	101012237	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	31020479	101012237	32839658	119	32913										
DDX54	79039	genome.wustl.edu	37	chr12	113602037	113602037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cggtccttctgccgcttggcGcgcatcacctggctgcacag	12	16	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr12:113602037G>A	ENST00000306014.5	-	15	1800	c.1773C>T	c.(1771-1773)cgC>cgT	p.R591R	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Silent_p.R591R	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	591					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCGCTTGGCGCGCATCACCT	0.667																																																	0													39	35	37					12																	113602037		2201	4300	6501	SO:0001819	synonymous_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1773C>T	12.37:g.113602037G>A			Q86YT8|Q9BRZ1	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R591	ENST00000306014.5	37	c.1773	CCDS31907.1	12																																																																																			DDX54	-	NULL		0.667	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	HGNC	protein_coding	OTTHUMT00000405435.1	G	NM_024072		113602037	-1	no_errors	ENST00000314045	ensembl	human	known	70_37	silent	SNP	0.027	A	A	113602037	G	A	113602037	2	1	174	1	0	0	0	0	0	0	0	1	4377	1074	38	2		2	DDX54	12	113602037	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	12589800	113602037	20249858	120	32914										
LATS2	26524	genome.wustl.edu	37	chr13	21549039	21549039	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	acaggctggcagccttcagtCtgatccaccagatcagagct	10	13	3	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:21549039C>T	ENST00000382592.4	-	8	3642	c.3237G>A	c.(3235-3237)caG>caA	p.Q1079Q	LATS2_ENST00000542899.1_Silent_p.Q1079Q	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AGCCTTCAGTCTGATCCACCA	0.592																																																	0													41	45	44					13																	21549039		2203	4300	6503	SO:0001819	synonymous_variant	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.3237G>A	13.37:g.21549039C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.Q1079	ENST00000382592.4	37	c.3237	CCDS9294.1	13																																																																																			LATS2	-	NULL		0.592	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	C			21549039	-1	no_errors	ENST00000382592	ensembl	human	known	70_37	silent	SNP	0.001	T	T	21549039	C	T	21549039	2	4	174	1	0	0	0	0	0	0	0	1	8667	912	32	1		1	LATS2	13	21549039	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09		21549039	93620839	121	32915										
NBEA	26960	genome.wustl.edu	37	chr13	35747728	35747728	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtgactgctacagcagcttcGaaggtaagtaaacttttttt	9	7	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:35747728G>A	ENST00000400445.3	+	27	5085	c.4551G>A	c.(4549-4551)tcG>tcA	p.S1517S	NBEA_ENST00000310336.4_Silent_p.S1517S|NBEA_ENST00000379939.2_Silent_p.S1514S|NBEA_ENST00000540320.1_Silent_p.S1517S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1517					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGCAGCTTCGAAGGTAAGTA	0.383																																																	0													81	79	80					13																	35747728		1830	4081	5911	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4551G>A	13.37:g.35747728G>A			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.S1517	ENST00000400445.3	37	c.4551	CCDS45026.1	13																																																																																			NBEA	-	NULL		0.383	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		G	NM_015678		35747728	1	no_errors	ENST00000310336	ensembl	human	known	70_37	silent	SNP	0.054	A	A	35747728	G	A	35747728	2	1	174	1	0	0	0	0	0	0	0	1	10210	1045	37	1		1	NBEA	13	35747728	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	14198689	35747728	79422150	122	32916										
MLNR	2862	genome.wustl.edu	37	chr13	49794659	49794659	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aacgtggtgaccgtgatgctGatcgggcgctaccgggacat	15	10	0	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:49794659G>T	ENST00000218721.1	+	1	186	c.186G>T	c.(184-186)ctG>ctT	p.L62L	MLNR_ENST00000398307.1_Silent_p.L62L	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	62					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CCGTGATGCTGATCGGGCGCT	0.667																																																	0													91	60	70					13																	49794659		2203	4300	6503	SO:0001819	synonymous_variant	2862			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.186G>T	13.37:g.49794659G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L62	ENST00000218721.1	37	c.186	CCDS9414.1	13																																																																																			MLNR	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.667	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1	G	NM_001507		49794659	1	no_errors	ENST00000218721	ensembl	human	known	70_37	silent	SNP	0.963	T	T	49794659	G	T	49794659	2	4	174	1	0	0	0	0	0	0	0	1	9655	1277	45	3		3	MLNR	13	49794659	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	14046931	49794659	65375219	123	32917										
HNRNPA1L2	144983	genome.wustl.edu	37	chr13	53217087	53217087	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gctttgcctttgtaacctttGacgaccatgactccgtggat	9	11	0	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr13:53217087G>C	ENST00000357495.2	+	1	520	c.460G>C	c.(460-462)Gac>Cac	p.D154H	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.D154H|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.D154H			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	154	Globular B domain.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						TGTAACCTTTGACGACCATGA	0.423																																																	0													44	47	46					13																	53217087		1500	2859	4359	SO:0001583	missense	144983				CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"RNA binding motif (RRM) containing"	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.460G>C	13.37:g.53217087G>C	ENSP00000350090:p.Asp154His		Q5TBS2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.D154H	ENST00000357495.2	37	c.460	CCDS31980.1	13	.	.	.	.	.	.	.	.	.	.	g	13.63	2.294671	0.40594	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.90444	-2.67;-2.67;-2.67	0.352	0.352	0.16051	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.43579	U	0.000542	D	0.93255	0.7851	M	0.78916	2.43	0.32066	N	0.595119	D	0.89917	1.0	D	0.85130	0.997	D	0.90641	0.4575	10	0.87932	D	0	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	154	Q32P51	RA1L2_HUMAN	H	154	ENSP00000341285:D154H;ENSP00000381119:D154H;ENSP00000350090:D154H	ENSP00000341285:D154H	D	+	1	0	HNRNPA1L2	52115088	1.000000	0.71417	0.921000	0.36526	0.230000	0.25150	3.645000	0.54389	0.455000	0.26910	0.089000	0.15464	GAC	HNRNPA1L2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.423	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA1L2	HGNC	protein_coding	OTTHUMT00000045098.1	G	NM_001011724		53217087	1	no_errors	ENST00000342657	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53217087	G	C	53217087	3	2	174	1	0	0	0	0	1	0	0	0	7278	1290	45	1	462	1	HNRNPA1L2	13	53217087	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	3422428	53217087	61952791	124	32918										
MYH7	4625	genome.wustl.edu	37	chr14	23893302	23893302	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	accttggcctccagctgaatCttgtttttgatcagctgatc	8	11	2	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:23893302C>T	ENST00000355349.3	-	23	2898	c.2736G>A	c.(2734-2736)aaG>aaA	p.K912K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	912					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGCTGAATCTTGTTTTTGA	0.537																																																	0													167	137	147					14																	23893302		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2736G>A	14.37:g.23893302C>T			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K912	ENST00000355349.3	37	c.2736	CCDS9601.1	14																																																																																			MYH7	-	NULL		0.537	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23893302	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	silent	SNP	1.000	T	T	23893302	C	T	23893302	2	4	174	1	0	0	0	0	0	0	0	1	10062	912	32	1		1	MYH7	14	23893302	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09		23893302	83456238	125	32919										
FAM179B	23116	genome.wustl.edu	37	chr14	45432171	45432171	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttagcttagcacttttgcctCaactagttgtctcgttacgg	8	10	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:45432171C>T	ENST00000361577.3	+	1	761	c.547C>T	c.(547-549)Caa>Taa	p.Q183*	FAM179B_ENST00000361462.2_Nonsense_Mutation_p.Q183*|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Nonsense_Mutation_p.Q183*|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	183										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACTTTTGCCTCAACTAGTTGT	0.537																																																	0													82	89	87					14																	45432171		2203	4300	6503	SO:0001587	stop_gained	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.547C>T	14.37:g.45432171C>T	ENSP00000355045:p.Gln183*		Q68D66|Q6PG27	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q183*	ENST00000361577.3	37	c.547	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799038	0.90538	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	.	.	.	4.54	4.54	0.55810	.	0.000000	0.40064	N	0.001193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.925	12.6429	0.56718	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	ENSP00000354917:Q183X	Q	+	1	0	FAM179B	44501921	0.996000	0.38824	0.993000	0.49108	0.777000	0.43975	2.119000	0.41958	2.352000	0.79861	0.655000	0.94253	CAA	FAM179B	-	superfamily_ARM-type_fold		0.537	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	C	XM_113781		45432171	1	no_errors	ENST00000361577	ensembl	human	known	70_37	nonsense	SNP	0.996	T	T	45432171	C	T	45432171	4	4	174	1	0	0	0	0	0	1	0	0	5521	827	29	1	549	1	FAM179B	14	45432171	Nonsense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	21538869	45432171	61917369	126	32920										
MAP3K9	4293	genome.wustl.edu	37	chr14	71197275	71197275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gcagggctggaagtccaggcCgctcctctacagtgctgcta	13	13	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:71197275C>T	ENST00000554752.2	-	12	3136	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R774Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R1023Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R1060Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R779Q	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1046					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			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)		AAGTCCAGGCCGCTCCTCTAC	0.662																																					GBM(114;411 1587 13539 28235 50070)												0													46	43	44					14																	71197275		2203	4300	6503	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.3137G>A	14.37:g.71197275C>T	ENSP00000451612:p.Arg1046Gln		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.R1060Q	ENST00000554752.2	37	c.3179		14	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133654	0.56828	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.74421	-0.84;-0.84;-0.82;-0.78	4.84	4.84	0.62591	.	0.291232	0.34110	N	0.004255	T	0.70011	0.3175	N	0.08118	0	0.33641	D	0.607306	D;D;D;D	0.71674	0.99;0.993;0.998;0.985	B;P;P;P	0.59595	0.444;0.644;0.86;0.457	T	0.74038	-0.3793	10	0.23302	T	0.38	.	18.1285	0.89593	0.0:1.0:0.0:0.0	.	774;1046;1060;779	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	Q	1046;1060;779;1023;774;762	ENSP00000451612:R1046Q;ENSP00000451038:R779Q;ENSP00000370649:R1023Q;ENSP00000451921:R774Q	ENSP00000005198:R1060Q	R	-	2	0	MAP3K9	70267028	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	3.716000	0.54904	2.524000	0.85096	0.655000	0.94253	CGG	MAP3K9	-	pirsf_MAPKKK9/10/11		0.662	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	C			71197275	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71197275	C	T	71197275	3	4	174	1	0	0	0	0	1	0	0	0	9280	652	23	2	181	2	MAP3K9	14	71197275	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	25765104	71197275	36152265	127	32921										
PROX2	283571	genome.wustl.edu	37	chr14	75329296	75329296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cctctctgttccatcttcacCgagggaagaaggggtagact	11	11	3	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:75329296C>T	ENST00000445876.1	-	1	1241	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000556489.2_Silent_p.S414S			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	414					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CCATCTTCACCGAGGGAAGAA	0.507																																																	0													97	99	98					14																	75329296		2004	4168	6172	SO:0001819	synonymous_variant	283571				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"Homeoboxes / PROS class"	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1242G>A	14.37:g.75329296C>T			C9J5W1|Q8N9Q3	Silent	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.S414	ENST00000445876.1	37	c.1242	CCDS45136.2	14																																																																																			PROX2	-	NULL		0.507	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		C			75329296	-1	no_errors	ENST00000445876	ensembl	human	known	70_37	silent	SNP	0.000	T	T	75329296	C	T	75329296	2	4	174	1	0	0	0	0	0	0	0	1	12588	639	23	2		2	PROX2	14	75329296	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	4132021	75329296	32020244	128	32922										
NRXN3	9369	genome.wustl.edu	37	chr14	79434541	79434541	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ctctatatggctggtctggcCcaaggcatgtacagcaacct	10	12	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:79434541C>A	ENST00000554719.1	+	11	2366	c.1875C>A	c.(1873-1875)gcC>gcA	p.A625A	NRXN3_ENST00000335750.5_Silent_p.A625A	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	229					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTGGTCTGGCCCAAGGCATGT	0.488																																																	0													107	98	101					14																	79434541		2203	4300	6503	SO:0001819	synonymous_variant	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1875C>A	14.37:g.79434541C>A			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.A987	ENST00000554719.1	37	c.2961	CCDS9870.1	14																																																																																			NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.488	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	C	NM_001105250		79434541	1	no_errors	ENST00000554738	ensembl	human	known	70_37	silent	SNP	0.997	A	A	79434541	C	A	79434541	2	1	174	1	0	0	0	0	0	0	0	1	10691	610	22	4		4	NRXN3	14	79434541	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	4105245	79434541	27914999	129	32923										
MTA1	9112	genome.wustl.edu	37	chr14	105916512	105916512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gctggagtctctgcccgccaCgcacatcaggtagcccccag	11	17	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr14:105916512C>T	ENST00000331320.7	+	5	573	c.359C>T	c.(358-360)aCg>aTg	p.T120M	MTA1_ENST00000405646.1_Missense_Mutation_p.T103M|MTA1_ENST00000406191.1_Missense_Mutation_p.T120M	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	120	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CTGCCCGCCACGCACATCAGG	0.662																																																	0													53	63	60					14																	105916512		2203	4299	6502	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.359C>T	14.37:g.105916512C>T	ENSP00000333633:p.Thr120Met		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.T120M	ENST00000331320.7	37	c.359	CCDS32169.1	14	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833472	0.71258	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000498644	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	4.01	4.01	0.46588	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	U	0.000000	D	0.93854	0.8034	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.94783	0.7955	9	.	.	.	-8.7484	14.6777	0.68993	0.0:1.0:0.0:0.0	.	120	Q13330	MTA1_HUMAN	M	29;120;120;103;34	ENSP00000333633:T120M;ENSP00000385702:T120M;ENSP00000384180:T103M;ENSP00000448146:T34M	.	T	+	2	0	MTA1	104987557	1.000000	0.71417	0.550000	0.28217	0.505000	0.33919	7.505000	0.81655	1.775000	0.52247	0.313000	0.20887	ACG	MTA1	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.662	MTA1-001	KNOWN	basic|CCDS	protein_coding	MTA1	HGNC	protein_coding	OTTHUMT00000317849.15	C			105916512	1	no_errors	ENST00000331320	ensembl	human	known	70_37	missense	SNP	1.000	T	T	105916512	C	T	105916512	3	4	174	1	0	0	0	0	1	0	0	0	9931	536	19	2	377	2	MTA1	14	105916512	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	26481971	105916512	1433028	130	32924										
UBE3A	7337	genome.wustl.edu	37	chr15	25599737	25599737	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	taagtactttaagggagattCattggtcaccatatgaaaac	8	6	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:25599737C>T	ENST00000397954.2	-	8	2226	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	UBE3A_ENST00000438097.1_Missense_Mutation_p.E720K|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.E720K|UBE3A_ENST00000232165.3_Missense_Mutation_p.E740K|UBE3A_ENST00000428984.2_Missense_Mutation_p.E720K			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	743					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AAGGGAGATTCATTGGTCACC	0.363																																																	0													113	116	115					15																	25599737		2203	4300	6503	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2227G>A	15.37:g.25599737C>T	ENSP00000381045:p.Glu743Lys		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.E743K	ENST00000397954.2	37	c.2227	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.251211	0.95305	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.65	5.65	0.86999	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.51803	-0.8659	10	0.13108	T	0.6	.	19.7278	0.96172	0.0:1.0:0.0:0.0	.	740;743	Q05086-3;Q05086	.;UBE3A_HUMAN	K	740;740;743;720;720	ENSP00000232165:E740K;ENSP00000381045:E743K;ENSP00000411258:E720K;ENSP00000401265:E720K	ENSP00000232165:E740K	E	-	1	0	UBE3A	23150830	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.656000	0.90262	0.591000	0.81541	GAA	UBE3A	-	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT		0.363	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	C	NM_000462		25599737	-1	no_errors	ENST00000397954	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25599737	C	T	25599737	3	4	174	1	0	0	0	0	1	0	0	0	16910	835	29	1	416	1	UBE3A	15	25599737	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09		25599737	76931655	131	32925										
UBR1	197131	genome.wustl.edu	37	chr15	43330009	43330009	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tccatttcttcgccacatctCagcaacaacctgggcaacca	5	16	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:43330009C>T	ENST00000290650.4	-	17	2062	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	UBR1_ENST00000382177.2_Missense_Mutation_p.E662K	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	662					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CGCCACATCTCAGCAACAACC	0.368																																																	0													98	80	86					15																	43330009		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1984G>A	15.37:g.43330009C>T	ENSP00000290650:p.Glu662Lys		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E662K	ENST00000290650.4	37	c.1984	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416840	0.83449	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.49139	0.79;0.79	4.92	4.92	0.64577	.	0.110954	0.64402	D	0.000012	T	0.42517	0.1206	L	0.40543	1.245	0.80722	D	1	B;P	0.42871	0.228;0.792	B;B	0.37731	0.098;0.257	T	0.50285	-0.8846	10	0.72032	D	0.01	-5.825	18.6694	0.91506	0.0:1.0:0.0:0.0	.	662;662	B4DYL2;Q8IWV7	.;UBR1_HUMAN	K	662	ENSP00000290650:E662K;ENSP00000371612:E662K	ENSP00000290650:E662K	E	-	1	0	UBR1	41117301	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.061000	0.76699	2.712000	0.92718	0.563000	0.77884	GAG	UBR1	-	NULL		0.368	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	C	NM_174916		43330009	-1	no_errors	ENST00000290650	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43330009	C	T	43330009	3	4	174	1	0	0	0	0	1	0	0	0	16932	835	29	1	3389	1	UBR1	15	43330009	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	17730272	43330009	59201383	132	32926										
GALK2	2585	genome.wustl.edu	37	chr15	49528054	49528054	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttttgtcttcgcagggacttCagtactagtgctaataacat	8	8	2	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:49528054C>A	ENST00000560031.1	+	4	580	c.273C>A	c.(271-273)ttC>ttA	p.F91L	GALK2_ENST00000543495.1_5'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.F67L|GALK2_ENST00000327171.3_Missense_Mutation_p.F80L|GALK2_ENST00000396509.2_Missense_Mutation_p.F67L|GALK2_ENST00000559454.1_Missense_Mutation_p.F67L			Q01415	GALK2_HUMAN	galactokinase 2	91					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GCAGGGACTTCAGTACTAGTG	0.388																																																	0													189	198	195					15																	49528054		2196	4295	6491	SO:0001583	missense	2585				CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.273C>A	15.37:g.49528054C>A	ENSP00000453129:p.Phe91Leu		Q7Z4Q4	Missense_Mutation	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase	p.F91L	ENST00000560031.1	37	c.273	CCDS42034.1	15	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597471	0.46318	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.81821	-1.54;-1.54	5.7	3.83	0.44106	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.104365	0.64402	N	0.000002	T	0.79423	0.4443	M	0.85197	2.74	0.80722	D	1	P;P	0.46987	0.844;0.888	B;B	0.39738	0.165;0.308	T	0.78081	-0.2343	10	0.49607	T	0.09	-12.5463	7.9418	0.29963	0.1325:0.7311:0.0:0.1364	.	91;80	Q01415;Q7Z4Q4	GALK2_HUMAN;.	L	80;91;67	ENSP00000316632:F80L;ENSP00000440312:F67L	ENSP00000316632:F80L	F	+	3	2	GALK2	47315346	0.998000	0.40836	1.000000	0.80357	0.808000	0.45660	0.424000	0.21330	0.775000	0.33450	-0.233000	0.12211	TTC	GALK2	-	superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase		0.388	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GALK2	HGNC	protein_coding	OTTHUMT00000417854.1	C			49528054	1	no_errors	ENST00000560031	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49528054	C	A	49528054	3	1	174	1	0	0	0	0	1	0	0	0	6223	825	29	3	311	3	GALK2	15	49528054	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	6198045	49528054	53003338	133	32927										
UNC13C	440279	genome.wustl.edu	37	chr15	54630687	54630687	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tactcccagctaacagacccGgtaagaaaatatgtatgtct	7	10	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:54630687G>A	ENST00000260323.11	+	16	4713	c.4713G>A	c.(4711-4713)ccG>ccA	p.P1571P	UNC13C_ENST00000545554.1_Splice_Site_p.P1571P|UNC13C_ENST00000537900.1_Splice_Site_p.P1569P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1571					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAACAGACCCGGTAAGAAAAT	0.363																																																	0													87	88	88					15																	54630687		1819	4095	5914	SO:0001630	splice_region_variant	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4713+1G>A	15.37:g.54630687G>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.P1571	ENST00000260323.11	37	c.4713	CCDS45264.1	15																																																																																			UNC13C	-	pfam_Ca-dep_secretion_activator		0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	G	NM_173166	Silent	54630687	1	no_errors	ENST00000260323	ensembl	human	known	70_37	silent	SNP	1.000	A	A	54630687	G	A	54630687	5	1	174	1	0	0	0	0	0	0	1	0	17017	1130	39	2	4771	2	UNC13C	15	54630687	Splice_Site	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	5102633	54630687	47900705	134	32928										
VPS13C	54832	genome.wustl.edu	37	chr15	62258338	62258338	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aaaactaggtccattcttatCagcctgaaaaaagaagtaaa	6	7	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:62258338C>A	ENST00000261517.5	-	30	3068	c.2995G>T	c.(2995-2997)Gat>Tat	p.D999Y	VPS13C_ENST00000395898.3_Missense_Mutation_p.D956Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D999Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.D956Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCATTCTTATCAGCCTGAAAA	0.274																																																	0													57	58	57					15																	62258338		2201	4292	6493	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2995G>T	15.37:g.62258338C>A	ENSP00000261517:p.Asp999Tyr			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.D999Y	ENST00000261517.5	37	c.2995	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353843	0.82243	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.35048	1.33;1.33;1.33	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;P;D;D	0.85130	0.991;0.763;0.997;0.997	T	0.67364	-0.5689	10	0.87932	D	0	.	19.5947	0.95530	0.0:1.0:0.0:0.0	.	956;999;956;999	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	956;999;999;999	ENSP00000249837:D956Y;ENSP00000261517:D999Y;ENSP00000379233:D999Y	ENSP00000249837:D956Y	D	-	1	0	VPS13C	60045630	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.940000	0.70187	2.701000	0.92244	0.561000	0.74099	GAT	VPS13C	-	NULL		0.274	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62258338	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62258338	C	A	62258338	3	1	174	1	0	0	0	0	1	0	0	0	17222	826	29	3	8518	3	VPS13C	15	62258338	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	7627651	62258338	40273054	135	32929										
SCAMP2	10066	genome.wustl.edu	37	chr15	75137833	75137833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cccgctgcaggaggaagactGagagcacggcacagagggtg	17	10	0	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr15:75137833G>A	ENST00000268099.9	-	8	945	c.836C>T	c.(835-837)tCa>tTa	p.S279L	ULK3_ENST00000440863.2_5'Flank|ULK3_ENST00000568667.1_5'Flank|ULK3_ENST00000569437.1_5'Flank	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	279					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GAGGAAGACTGAGAGCACGGC	0.562																																																	0													133	116	121					15																	75137833		2197	4295	6492	SO:0001583	missense	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.836C>T	15.37:g.75137833G>A	ENSP00000268099:p.Ser279Leu		B2RDF0|Q9BQE8	Missense_Mutation	SNP	pfam_SCAMP	p.S279L	ENST00000268099.9	37	c.836	CCDS10271.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.103135	0.94245	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.18960	2.18	4.91	4.91	0.64330	.	0.211673	0.42548	D	0.000700	T	0.33933	0.0880	M	0.79343	2.45	0.80722	D	1	B;P	0.36712	0.071;0.566	B;B	0.42163	0.1;0.378	T	0.12319	-1.0552	10	0.33141	T	0.24	.	17.1164	0.86690	0.0:0.0:1.0:0.0	.	279;248	O15127;B3KU14	SCAM2_HUMAN;.	L	279;248	ENSP00000268099:S279L	ENSP00000268099:S279L	S	-	2	0	SCAMP2	72924886	1.000000	0.71417	0.830000	0.32933	0.879000	0.50718	7.926000	0.87569	2.273000	0.75805	0.585000	0.79938	TCA	SCAMP2	-	pfam_SCAMP		0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP2	HGNC	protein_coding	OTTHUMT00000286403.3	G	NM_005697		75137833	-1	no_errors	ENST00000268099	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75137833	G	A	75137833	3	1	174	1	0	0	0	0	1	0	0	0	13901	1294	45	1	161	1	SCAMP2	15	75137833	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	12879495	75137833	27393559	136	32930										
C16orf13	84326	genome.wustl.edu	37	chr16	684612	684612	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggggcttagtttttccggaaGatcaggcatttgttgttggc	14	6	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:684612G>C	ENST00000301686.8	-	6	611	c.600C>G	c.(598-600)atC>atG	p.I200M	C16orf13_ENST00000397665.2_Missense_Mutation_p.L158V|C16orf13_ENST00000397664.4_Missense_Mutation_p.I123M|C16orf13_ENST00000397666.2_Missense_Mutation_p.L178V|C16orf13_ENST00000338401.4_Missense_Mutation_p.I103M	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	200										large_intestine(1)	1		Hepatocellular(780;0.00335)				TTTTCCGGAAGATCAGGCATT	0.627																																																	0													183	208	200					16																	684612		2201	4300	6501	SO:0001583	missense	84326				CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.600C>G	16.37:g.684612G>C	ENSP00000445926:p.Ile200Met		A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Missense_Mutation	SNP	pfam_DUF938	p.L178V	ENST00000301686.8	37	c.532	CCDS45368.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.043546|2.043546	0.36085|0.36085	.|.	.|.	ENSG00000130731|ENSG00000130731	ENST00000301686;ENST00000397664;ENST00000338401|ENST00000397666;ENST00000397665	T;T;T|T	0.47528|0.52754	0.84;0.84;0.84|0.65	4.31|4.31	0.587|0.587	0.17439|0.17439	.|.	0.216041|.	0.38778|.	N|.	0.001574|.	T|T	0.43211|0.43211	0.1237|0.1237	M|M	0.80183|0.80183	2.485|2.485	0.21762|0.21762	N|N	0.999558|0.999558	D;D;D|B;B	0.71674|0.16802	0.964;0.993;0.998|0.017;0.019	P;D;D|B;B	0.73380|0.20767	0.778;0.919;0.98|0.014;0.031	T|T	0.40572|0.40572	-0.9556|-0.9556	10|9	0.72032|0.17369	D|T	0.01|0.5	-24.562|-24.562	4.324|4.324	0.11031|0.11031	0.3811:0.0:0.4366:0.1823|0.3811:0.0:0.4366:0.1823	.|.	103;123;200|158;178	Q96S19-3;D6REA6;Q96S19|F6TF62;F6VM53	.;.;CP013_HUMAN|.;.	M|V	200;123;103|178;158	ENSP00000445926:I200M;ENSP00000440475:I123M;ENSP00000444140:I103M|ENSP00000440765:L178V	ENSP00000445926:I200M|ENSP00000444460:L158V	I|L	-|-	3|1	3|0	Z84479.1|Z84479.1	624613|624613	0.712000|0.712000	0.27916|0.27916	0.998000|0.998000	0.56505|0.56505	0.628000|0.628000	0.37860|0.37860	-0.178000|-0.178000	0.09782|0.09782	-0.126000|-0.126000	0.11682|0.11682	-0.378000|-0.378000	0.06908|0.06908	ATC|CTT	C16orf13	-	NULL		0.627	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf13	HGNC	protein_coding	OTTHUMT00000109081.2	G	NM_001040160		684612	-1	no_errors	ENST00000397666	ensembl	human	known	70_37	missense	SNP	0.997	C	C	684612	G	C	684612	3	2	174	1	0	0	0	0	1	0	0	0	1815	942	33	1	89	1	C16orf13	16	684612	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		684612	89670141	137	32931										
ZNF213	7760	genome.wustl.edu	37	chr16	3191192	3191192	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggctgcagcgactgcggcaaGagcttctcgctgcgctccta	13	14	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:3191192G>A	ENST00000396878.3	+	6	1699	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	ZNF213_ENST00000576416.1_Silent_p.K408K|ZNF213_ENST00000574902.1_Silent_p.K408K|ZNF213_ENST00000416391.2_Silent_p.K250K	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	408					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						ACTGCGGCAAGAGCTTCTCGC	0.662																																																	0													42	42	42					16																	3191192		2197	4300	6497	SO:0001819	synonymous_variant	7760			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1224G>A	16.37:g.3191192G>A			A8K1B9|B4DMG6|Q96IS1	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.K408	ENST00000396878.3	37	c.1224	CCDS10495.1	16																																																																																			ZNF213	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	HGNC	protein_coding	OTTHUMT00000437334.1	G	NM_004220		3191192	1	no_errors	ENST00000396878	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3191192	G	A	3191192	2	1	174	1	0	0	0	0	0	0	0	1	17799	933	33	1		1	ZNF213	16	3191192	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	2506580	3191192	87163561	138	32932										
SMG1	23049	genome.wustl.edu	37	chr16	18863488	18863488	+	Frame_Shift_Del	DEL	A	A	-													0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggaagtagattctgaacttcAgatttttctctaggcagcag							TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:18863488delA	ENST00000446231.2	-	33	5365	c.4953delT	c.(4951-4953)tctfs	p.S1651fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.S1651fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1651	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCTGAACTTCAGATTTTTCTC	0.428																																																	0													105	102	103					16																	18863488		1850	4103	5953	SO:0001589	frameshift_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4953delT	16.37:g.18863488delA	ENSP00000402515:p.Ser1651fs		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1652fs	ENST00000446231.2	37	c.4953	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	A	NM_015092		18863488	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	frame_shift_del	DEL	0.992	-	-	18863488	A	-	18863488	7	5	174	1	0	1	0	1	0	0	0	0	14825	175	7	0	6156	0	SMG1	16	18863488	Frame_Shift_Del	DEL	A	TCGA-MU-A51Y-01A-11D-A26G-09	15672296	18863488	71491265	139	32933										
LAT	27040	genome.wustl.edu	37	chr16	28997209	28997209	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gcatccagttcaaacggcctCgtgagtacaaggagggtccc	12	12	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:28997209C>T	ENST00000360872.5	+	3	241	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_Splice_Site_p.H55Y|LAT_ENST00000395461.3_Splice_Site_p.H91Y|LAT_ENST00000395456.2_Splice_Site_p.H55Y|LAT_ENST00000566177.1_Splice_Site_p.H55Y|LAT_ENST00000354453.4_Splice_Site_p.H55Y|LAT_ENST00000564277.1_Splice_Site_p.H55Y|LAT_ENST00000563964.1_3'UTR			O43561	LAT_HUMAN	linker for activation of T cells	55					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CAAACGGCCTCGTGAGTACAA	0.607																																																	0													108	117	114					16																	28997209		2197	4300	6497	SO:0001630	splice_region_variant	27040			AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"linker for activation of T cells, transmembrane adaptor"	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.163+1C>T	16.37:g.28997209C>T			B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	prints_Linker_for_activat_Tcells_prot	p.H91Y	ENST00000360872.5	37	c.271	CCDS10647.1	16	.	.	.	.	.	.	.	.	.	.	C	6.875	0.530922	0.13127	.	.	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	4.11	-1.75	0.08031	.	.	.	.	.	T	0.14700	0.0355	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B	0.10296	0.003;0.0;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.0;0.001;0.0	T	0.27020	-1.0086	8	0.20519	T	0.43	-0.0047	4.9286	0.13905	0.0:0.6544:0.1533:0.1924	.	55;55;91;55;55	C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.;.;.;LAT_HUMAN;.	Y	91;55;55;55;55	.	ENSP00000346441:H55Y	H	+	1	0	LAT	28904710	0.000000	0.05858	0.072000	0.20136	0.093000	0.18481	-1.616000	0.02053	-0.366000	0.08064	-0.672000	0.03802	CAC	LAT	-	NULL		0.607	LAT-001	KNOWN	basic|CCDS	protein_coding	LAT	HGNC	protein_coding	OTTHUMT00000254688.2	C		Missense_Mutation	28997209	1	no_errors	ENST00000395461	ensembl	human	known	70_37	missense	SNP	0.163	T	T	28997209	C	T	28997209	5	4	174	1	0	0	0	0	0	0	1	0	8664	898	31	1	285	1	LAT	16	28997209	Splice_Site	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	10133721	28997209	61357544	140	32934										
GPT2	84706	genome.wustl.edu	37	chr16	46918771	46918771	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agccggcgcgagcgcatcctCacgctggagtccatgaaccc	12	16	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:46918771C>T	ENST00000340124.4	+	2	256	c.144C>T	c.(142-144)ctC>ctT	p.L48L	GPT2_ENST00000440783.2_5'UTR	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	48					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	AGCGCATCCTCACGCTGGAGT	0.736																																																	0													9	12	11					16																	46918771		1593	2882	4475	SO:0001819	synonymous_variant	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.144C>T	16.37:g.46918771C>T			Q8N9E2	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L48	ENST00000340124.4	37	c.144	CCDS10725.1	16																																																																																			GPT2	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.736	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	C			46918771	1	no_errors	ENST00000340124	ensembl	human	known	70_37	silent	SNP	0.975	T	T	46918771	C	T	46918771	2	4	174	1	0	0	0	0	0	0	0	1	6758	813	29	1		1	GPT2	16	46918771	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	17921562	46918771	43435982	141	32935										
ADCY7	113	genome.wustl.edu	37	chr16	50339488	50339488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gtcagccattgaggggctcaGctccacgaggtgaggtctga	15	10	3	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:50339488G>A	ENST00000394697.2	+	13	2010	c.1670G>A	c.(1669-1671)aGc>aAc	p.S557N	ADCY7_ENST00000538642.1_Missense_Mutation_p.S557N|ADCY7_ENST00000254235.3_Missense_Mutation_p.S557N|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.S557N			P51828	ADCY7_HUMAN	adenylate cyclase 7	557					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GAGGGGCTCAGCTCCACGAGG	0.597																																																	0													154	140	145					16																	50339488		2198	4300	6498	SO:0001583	missense	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1670G>A	16.37:g.50339488G>A	ENSP00000378187:p.Ser557Asn		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S557N	ENST00000394697.2	37	c.1670	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	6.690	0.496004	0.12762	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	D;D;D	0.83837	-1.77;-1.77;-1.77	5.64	4.66	0.58398	.	0.000000	0.52532	U	0.000064	T	0.74419	0.3714	L	0.38531	1.155	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.13407	0.006;0.009	T	0.67273	-0.5712	10	0.12766	T	0.61	.	14.1916	0.65641	0.0:0.1618:0.8382:0.0	.	557;557	P51828;F5H4D1	ADCY7_HUMAN;.	N	557	ENSP00000445046:S557N;ENSP00000378187:S557N;ENSP00000254235:S557N	ENSP00000254235:S557N	S	+	2	0	ADCY7	48896989	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.291000	0.43540	1.322000	0.45245	0.591000	0.81541	AGC	ADCY7	-	pfam_Adenylate_cyclase-like		0.597	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	G			50339488	1	no_errors	ENST00000254235	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50339488	G	A	50339488	3	1	174	1	0	0	0	0	1	0	0	0	299	971	34	4	1716	4	ADCY7	16	50339488	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	3420717	50339488	40015265	142	32936										
KIAA0895L	653319	genome.wustl.edu	37	chr16	67214059	67214059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gggactggaagaacttgtctCgctcacggtccatgttggtt	13	9	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr16:67214059C>T	ENST00000290881.7	-	3	1381	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R152Q|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R152Q			Q68EN5	K895L_HUMAN	KIAA0895-like	152										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GAACTTGTCTCGCTCACGGTC	0.557																																																	0													114	122	119					16																	67214059		2012	4184	6196	SO:0001583	missense	653319			AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.455G>A	16.37:g.67214059C>T	ENSP00000290881:p.Arg152Gln		A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	pfam_DUF1704	p.R152Q	ENST00000290881.7	37	c.455	CCDS42177.1	16	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910106	0.52439	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	3.97	0.46021	.	0.292531	0.32328	N	0.006258	T	0.29749	0.0743	L	0.44542	1.39	0.36384	D	0.862083	P;B	0.48350	0.909;0.343	B;B	0.30495	0.116;0.063	T	0.38672	-0.9650	9	0.41790	T	0.15	-22.2733	7.3678	0.26783	0.0:0.8085:0.0:0.1915	.	152;152	Q68EN5-2;Q68EN5	.;K895L_HUMAN	Q	152	.	ENSP00000290881:R152Q	R	-	2	0	KIAA0895L	65771560	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	2.019000	0.41001	1.296000	0.44742	0.555000	0.69702	CGA	KIAA0895L	-	NULL		0.557	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0895L	HGNC	protein_coding	OTTHUMT00000421193.4	C	NM_001040715		67214059	-1	no_errors	ENST00000290881	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67214059	C	T	67214059	3	4	174	1	0	0	0	0	1	0	0	0	8218	884	31	1	984	1	KIAA0895L	16	67214059	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	16874571	67214059	23140694	143	32937										
ITGAE	3682	genome.wustl.edu	37	chr17	3655001	3655001	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttgtagatatacacactgccGaagctggcaccatcatctgc	8	12	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:3655001G>A	ENST00000263087.4	-	15	1934	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	612					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACACACTGCCGAAGCTGGCAC	0.612																																					NSCLC(182;635 2928 8995 38788)												0													78	82	81					17																	3655001		2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1836C>T	17.37:g.3655001G>A			Q17RS6|Q9NZU9	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.F612	ENST00000263087.4	37	c.1836	CCDS32531.1	17																																																																																			ITGAE	-	smart_Int_alpha_beta-p		0.612	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	G	NM_002208		3655001	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	silent	SNP	0.002	A	A	3655001	G	A	3655001	2	1	174	1	0	0	0	0	0	0	0	1	7905	1049	37	1		1	ITGAE	17	3655001	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		3655001	77540209	144	32938										
DNAH9	1770	genome.wustl.edu	37	chr17	11778338	11778338	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atgctgacgtggctgcctggCagaacgagggcctcccagcc	14	14	0	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:11778338C>T	ENST00000262442.4	+	53	10383	c.10315C>T	c.(10315-10317)Cag>Tag	p.Q3439*	RP11-628O18.1_ENST00000579621.1_RNA|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q3439*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3439	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGCCTGGCAGAACGAGGG	0.597																																																	0													102	91	95					17																	11778338		2203	4300	6503	SO:0001587	stop_gained	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10315C>T	17.37:g.11778338C>T	ENSP00000262442:p.Gln3439*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q3439*	ENST00000262442.4	37	c.10315	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	52	18.699783	0.99909	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	4.51	3.53	0.40419	.	0.065495	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.9714	0.64242	0.1527:0.8473:0.0:0.0	.	.	.	.	X	3439;3439;2021	.	ENSP00000262442:Q3439X	Q	+	1	0	DNAH9	11719063	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.037000	0.49775	1.114000	0.41781	0.655000	0.94253	CAG	DNAH9	-	NULL		0.597	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11778338	1	no_errors	ENST00000262442	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	11778338	C	T	11778338	4	4	174	1	0	0	0	0	0	1	0	0	4618	711	25	4	10525	4	DNAH9	17	11778338	Nonsense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	8123337	11778338	69416872	145	32939										
RICH2	9912	genome.wustl.edu	37	chr17	12844388	12844388	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cacaggaccagctctcagctGatatgtacagttttgtggcc	10	11	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:12844388G>A	ENST00000379672.5	+	8	898	c.598G>A	c.(598-600)Gat>Aat	p.D200N	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.D200N|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.D200N	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	200	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCTCTCAGCTGATATGTACAG	0.408																																																	0													153	143	146					17																	12844388		1903	4123	6026	SO:0001583	missense	9912				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.598G>A	17.37:g.12844388G>A	ENSP00000368994:p.Asp200Asn		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.D200N	ENST00000379672.5	37	c.598	CCDS45616.1	17	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084412	0.55861	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.28895	1.59;1.59	5.68	5.68	0.88126	BAR (3);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.79108	0.921;0.992	T	0.63386	-0.6649	10	0.87932	D	0	.	17.2857	0.87141	0.0:0.0:1.0:0.0	.	200;200	A6NCP5;Q17R89	.;RHG44_HUMAN	N	200	ENSP00000368994:D200N;ENSP00000342566:D200N	ENSP00000342566:D200N	D	+	1	0	ARHGAP44	12785113	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.177000	0.94849	2.675000	0.91044	0.655000	0.94253	GAT	ARHGAP44	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.408	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	HGNC	protein_coding	OTTHUMT00000441566.1	G	NM_014859		12844388	1	no_errors	ENST00000379672	ensembl	human	known	70_37	missense	SNP	1.000	A	A	12844388	G	A	12844388	3	1	174	1	0	0	0	0	1	0	0	0	13387	1290	45	1	628	1	RICH2	17	12844388	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	1066050	12844388	68350822	146	32940										
FLCN	201163	genome.wustl.edu	37	chr17	17124884	17124884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	catctggaccaaggtatcctCggtcggagcaccttccagga	11	13	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:17124884C>T	ENST00000285071.4	-	8	1292	c.838G>A	c.(838-840)Gag>Aag	p.E280K	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.E280K	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	280					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGGTATCCTCGGTCGGAGCA	0.642									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0													43	43	43					17																	17124884		2203	4300	6503	SO:0001583	missense	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.838G>A	17.37:g.17124884C>T	ENSP00000285071:p.Glu280Lys		A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	pfam_Folliculin	p.E280K	ENST00000285071.4	37	c.838	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214055	0.79352	.	.	ENSG00000154803	ENST00000285071;ENST00000389169	D;D	0.93076	-3.16;-2.97	6.08	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.94443	0.8212	M	0.61703	1.905	0.58432	D	0.999995	P;D	0.89917	0.842;1.0	B;P	0.61070	0.314;0.883	D	0.92058	0.5654	10	0.20046	T	0.44	-7.8755	12.9555	0.58425	0.0:0.8698:0.0:0.1302	.	280;280	Q8NFG4-2;Q8NFG4	.;FLCN_HUMAN	K	280	ENSP00000285071:E280K;ENSP00000373821:E280K	ENSP00000285071:E280K	E	-	1	0	FLCN	17065609	1.000000	0.71417	0.649000	0.29536	0.339000	0.28857	7.157000	0.77461	0.924000	0.37069	-0.136000	0.14681	GAG	FLCN	-	NULL		0.642	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	C	NM_144606		17124884	-1	no_errors	ENST00000285071	ensembl	human	known	70_37	missense	SNP	0.998	T	T	17124884	C	T	17124884	3	4	174	1	0	0	0	0	1	0	0	0	5939	893	31	1	1087	1	FLCN	17	17124884	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	4280496	17124884	64070326	147	32941										
USP22	23326	genome.wustl.edu	37	chr17	20919105	20919105	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	acgtccagggccgcgatgagGaactcgtgggcgtcctgctg	16	12	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:20919105G>A	ENST00000261497.4	-	6	1001	c.798C>T	c.(796-798)ttC>ttT	p.F266F	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.F254F	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	266	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CCGCGATGAGGAACTCGTGGG	0.632																																																	0													48	58	55					17																	20919105		2056	4184	6240	SO:0001819	synonymous_variant	23326			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.798C>T	17.37:g.20919105G>A			A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.F266	ENST00000261497.4	37	c.798	CCDS42285.1	17																																																																																			USP22	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.632	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	G			20919105	-1	no_errors	ENST00000261497	ensembl	human	known	70_37	silent	SNP	1.000	A	A	20919105	G	A	20919105	2	1	174	1	0	0	0	0	0	0	0	1	17085	1165	41	1		1	USP22	17	20919105	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	3794221	20919105	60276105	148	32942										
CCDC55	84081	genome.wustl.edu	37	chr17	28512158	28512158	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gacagagtatggaaaagggaGaaagatagggagaaatattc	14	2	0	4			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:28512158G>A	ENST00000247026.5	+	7	1206	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	381					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GGAaaagggagaaagataggg	0.433																																																	0													29	28	28					17																	28512158		2203	4300	6503	SO:0001819	synonymous_variant	84081			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1143G>A	17.37:g.28512158G>A			Q6FI71	Silent	SNP	pfam_DUF2040	p.E381	ENST00000247026.5	37	c.1143	CCDS11255.1	17																																																																																			NSRP1	-	NULL		0.433	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSRP1	HGNC	protein_coding	OTTHUMT00000256121.2	G	NM_032141		28512158	1	no_errors	ENST00000247026	ensembl	human	known	70_37	silent	SNP	0.300	A	A	28512158	G	A	28512158	2	1	174	1	0	0	0	0	0	0	0	1	2830	933	33	1		1	CCDC55	17	28512158	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	7593053	28512158	52683052	149	32943										
ACACA	31	genome.wustl.edu	37	chr17	35687252	35687252	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	caggttgctgatctcatcctCtgagttatcttcagacacag	8	11	4	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:35687252C>T	ENST00000394406.2	-	3	278	c.88G>A	c.(88-90)Gag>Aag	p.E30K	ACACA_ENST00000416895.1_Missense_Mutation_p.E30K|ACACA_ENST00000588142.1_Missense_Mutation_p.E30K|ACACA_ENST00000353139.5_Missense_Mutation_p.E67K	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	30					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCTCATCCTCTGAGTTATCT	0.488																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													162	148	152					17																	35687252		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.88G>A	17.37:g.35687252C>T	ENSP00000377928:p.Glu30Lys		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E67K	ENST00000394406.2	37	c.199	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268192	0.80469	.	.	ENSG00000132142	ENST00000353139;ENST00000394406;ENST00000452074;ENST00000451642;ENST00000416895;ENST00000456561	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	N	0.19112	0.55	0.80722	D	1	P;B	0.44429	0.835;0.349	B;B	0.39258	0.295;0.07	T	0.04400	-1.0954	10	0.16896	T	0.51	-16.9821	19.7705	0.96361	0.0:1.0:0.0:0.0	.	67;30	Q13085-4;Q13085	.;ACACA_HUMAN	K	67;30;54;30;30;30	ENSP00000344789:E67K;ENSP00000377928:E30K;ENSP00000397282:E30K;ENSP00000399445:E30K;ENSP00000391001:E30K	ENSP00000344789:E67K	E	-	1	0	ACACA	32761365	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.344000	0.72991	2.669000	0.90835	0.655000	0.94253	GAG	ACACA	-	NULL		0.488	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	C	NM_198836		35687252	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	missense	SNP	0.809	T	T	35687252	C	T	35687252	3	4	174	1	0	0	0	0	1	0	0	0	106	922	32	1	7225	1	ACACA	17	35687252	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	7175094	35687252	45507958	150	32944										
GPR179	440435	genome.wustl.edu	37	chr17	36499400	36499400	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gccccctgtaggcttgggggGagccctggcatggctcctgc	16	14	0	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:36499400G>C	ENST00000342292.4	-	1	293	c.273C>G	c.(271-273)ctC>ctG	p.L91L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	91					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCTTGGGGGGAGCCCTGGCA	0.617																																																	0													26	28	27					17																	36499400		1974	4135	6109	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.273C>G	17.37:g.36499400G>C				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.L91	ENST00000342292.4	37	c.273	CCDS42308.1	17																																																																																			GPR179	-	NULL		0.617	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	G			36499400	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	silent	SNP	0.994	C	C	36499400	G	C	36499400	2	2	174	1	0	0	0	0	0	0	0	1	6693	1161	41	1		1	GPR179	17	36499400	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	812148	36499400	44695810	151	32945										
NPEPPS	9520	genome.wustl.edu	37	chr17	45608761	45608761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ccttctcgtcttcagccgctCctctcgccgccgcctccaca	6	22	4	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:45608761C>T	ENST00000322157.4	+	1	332	c.95C>T	c.(94-96)tCc>tTc	p.S32F	NPEPPS_ENST00000544660.1_5'UTR|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000530173.1_Missense_Mutation_p.S28F	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	32					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ttcagccgctcctctcgccgc	0.706																																																	0													1	1	1					17																	45608761		500	1354	1854	SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.95C>T	17.37:g.45608761C>T	ENSP00000320324:p.Ser32Phe		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S32F	ENST00000322157.4	37	c.95	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701259	0.30142	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572	T;T	0.01359	4.98;5.01	2.16	2.16	0.27623	.	4.292930	0.01288	U	0.009936	T	0.01254	0.0041	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45991	-0.9223	10	0.48119	T	0.1	.	6.7399	0.23431	0.0:0.8436:0.0:0.1564	.	32;28;32	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	F	28;32;32	ENSP00000433287:S28F;ENSP00000320324:S32F	ENSP00000320324:S32F	S	+	2	0	NPEPPS	42963760	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.001000	0.29783	1.202000	0.43218	0.478000	0.44815	TCC	NPEPPS	-	NULL		0.706	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	C	NM_006310		45608761	1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	0.998	T	T	45608761	C	T	45608761	3	4	174	1	0	0	0	0	1	0	0	0	10599	855	30	1	97	1	NPEPPS	17	45608761	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	9109361	45608761	35586449	152	32946										
LRRC37A3	374819	genome.wustl.edu	37	chr17	62856739	62856739	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	acctctttgaagtgccttttCtggatgctccttgggcccat	9	12	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:62856739C>G	ENST00000584306.1	-	11	4055	c.3525G>C	c.(3523-3525)caG>caC	p.Q1175H	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q213H|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q152H|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1175H|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q293H	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1175						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTGCCTTTTCTGGATGCTCC	0.512																																																	0													87	92	90					17																	62856739		2203	4300	6503	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3525G>C	17.37:g.62856739C>G	ENSP00000464535:p.Gln1175His		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q1175H	ENST00000584306.1	37	c.3525	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	11.08	1.534344	0.27475	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.60171	1.42;1.42;0.21	2.46	0.273	0.15650	.	.	.	.	.	T	0.63260	0.2496	M	0.63843	1.955	0.09310	N	1	D;P	0.69078	0.997;0.94	P;B	0.59221	0.854;0.36	T	0.52555	-0.8560	9	0.72032	D	0.01	.	4.7126	0.12880	0.0:0.659:0.0:0.341	.	293;1175	B4DG20;O60309	.;L37A3_HUMAN	H	256;213;152;1175	ENSP00000383674:Q213H;ENSP00000335617:Q152H;ENSP00000325713:Q1175H	ENSP00000325713:Q1175H	Q	-	3	2	LRRC37A3	60287201	0.002000	0.14202	0.007000	0.13788	0.041000	0.13682	0.069000	0.14552	-0.028000	0.13850	0.298000	0.19748	CAG	LRRC37A3	-	NULL		0.512	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	C	NM_199340		62856739	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.015	G	G	62856739	C	G	62856739	3	3	174	1	0	0	0	0	1	0	0	0	9016	912	32	1	1395	1	LRRC37A3	17	62856739	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	17247978	62856739	18338471	153	32947										
PRKCA	5578	genome.wustl.edu	37	chr17	64299116	64299116	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttcttcaagcagcccaccttCtgcagccactgcaccgactt	6	17	3	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:64299116C>T	ENST00000413366.3	+	1	173	c.147C>T	c.(145-147)ttC>ttT	p.F49F	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	49					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AGCCCACCTTCTGCAGCCACT	0.682																																																	0													92	86	88					17																	64299116		2203	4300	6503	SO:0001819	synonymous_variant	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.147C>T	17.37:g.64299116C>T			B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.F49	ENST00000413366.3	37	c.147	CCDS11664.1	17																																																																																			PRKCA	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.682	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	C			64299116	1	no_errors	ENST00000413366	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64299116	C	T	64299116	2	4	174	1	0	0	0	0	0	0	0	1	12534	912	32	1		1	PRKCA	17	64299116	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	1442377	64299116	16896094	154	32948										
OTOP3	347741	genome.wustl.edu	37	chr17	72945491	72945491	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	actctgtgggaggcctggtgGaggtctacctgggggcctga	18	9	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:72945491G>C	ENST00000328801.4	+	7	1771	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	591						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGCCTGGTGGAGGTCTACCT	0.592																																																	0													50	47	48					17																	72945491		2203	4300	6503	SO:0001583	missense	347741			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1771G>C	17.37:g.72945491G>C	ENSP00000328090:p.Glu591Gln			Missense_Mutation	SNP	pfam_Otopetrin	p.E591Q	ENST00000328801.4	37	c.1771	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898552	0.91962	.	.	ENSG00000182938	ENST00000328801	T	0.17854	2.25	4.43	4.43	0.53597	.	0.080088	0.48767	D	0.000167	T	0.44705	0.1306	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.52170	-0.8611	10	0.87932	D	0	-24.0593	17.0516	0.86520	0.0:0.0:1.0:0.0	.	591	Q7RTS5	OTOP3_HUMAN	Q	591	ENSP00000328090:E591Q	ENSP00000328090:E591Q	E	+	1	0	OTOP3	70457086	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.407000	0.97325	2.026000	0.59711	0.313000	0.20887	GAG	OTOP3	-	NULL		0.592	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	G	NM_178233		72945491	1	no_errors	ENST00000328801	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72945491	G	C	72945491	3	2	174	1	0	0	0	0	1	0	0	0	11331	1175	41	1	1797	1	OTOP3	17	72945491	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	8646375	72945491	8249719	155	32949										
FBF1	85302	genome.wustl.edu	37	chr17	73919313	73919313	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ccccgccaaatgcaggccctCagaggtcccagcatgctgct	10	17	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr17:73919313C>A	ENST00000586717.1	-	13	1609	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	FBF1_ENST00000319129.5_Nonsense_Mutation_p.E445*|FBF1_ENST00000389570.4_Nonsense_Mutation_p.E446*			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	446					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGCAGGCCCTCAGAGGTCCCA	0.632																																																	0													13	15	14					17																	73919313		2034	4188	6222	SO:0001587	stop_gained	85302			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1336G>T	17.37:g.73919313C>A	ENSP00000465132:p.Glu446*		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Nonsense_Mutation	SNP	superfamily_HRDC-like	p.E446*	ENST00000586717.1	37	c.1336		17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039902	0.93630	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	.	.	.	4.45	-1.64	0.08318	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-4.8407	8.8231	0.35039	0.0:0.5088:0.0:0.4912	.	.	.	.	X	446;446;445;459	.	ENSP00000324292:E445X	E	-	1	0	FBF1	71430908	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.756000	0.04777	-0.584000	0.05913	-0.258000	0.10820	GAG	FBF1	-	NULL		0.632	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	C	NM_001080542		73919313	-1	no_errors	ENST00000389570	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	73919313	C	A	73919313	4	1	174	1	0	0	0	0	0	1	0	0	5713	835	29	3	2136	3	FBF1	17	73919313	Nonsense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	973822	73919313	7275897	156	32950										
TGIF1	7050	genome.wustl.edu	37	chr18	3456358	3456358	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ttgtcctttcctaggtattgTtgcagcatctggcagtgaga	11	8	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr18:3456358T>G	ENST00000330513.5	+	2	713	c.410T>G	c.(409-411)gTt>gGt	p.V137G	TGIF1_ENST00000401449.1_5'UTR|TGIF1_ENST00000405385.3_5'UTR|TGIF1_ENST00000577543.1_Missense_Mutation_p.V8G|TGIF1_ENST00000548489.2_Missense_Mutation_p.V22G|TGIF1_ENST00000343820.5_Missense_Mutation_p.V8G|TGIF1_ENST00000551402.1_Missense_Mutation_p.V8G|TGIF1_ENST00000472042.1_5'UTR|TGIF1_ENST00000407501.2_Missense_Mutation_p.V8G|TGIF1_ENST00000551541.1_5'UTR|TGIF1_ENST00000345133.5_5'UTR|TGIF1_ENST00000400167.2_5'UTR	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	137					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CTAGGTATTGTTGCAGCATCT	0.488																																																	0													356	350	352					18																	3456358		2203	4300	6503	SO:0001583	missense	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.410T>G	18.37:g.3456358T>G	ENSP00000327959:p.Val137Gly		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	pfam_Homeobox_KN_domain,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V137G	ENST00000330513.5	37	c.410	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	T	5.648	0.304186	0.10678	.	.	ENSG00000177426	ENST00000548489;ENST00000549253;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551402;ENST00000330513	T;T;T;T;T;T	0.73897	0.52;0.49;0.49;-0.79;0.58;0.53	5.97	5.97	0.96955	.	0.389347	0.19611	N	0.110144	T	0.68201	0.2975	L	0.43923	1.385	0.80722	D	1	P;P;B;B	0.49783	0.928;0.543;0.023;0.178	P;B;B;B	0.44897	0.463;0.138;0.049;0.054	T	0.64630	-0.6362	10	0.21014	T	0.42	-10.3219	11.4773	0.50306	0.0:0.0694:0.0:0.9306	.	8;137;8;22	F8W1J9;Q15583;Q15583-2;F8VZB6	.;TGIF1_HUMAN;.;.	G	22;11;8;8;8;8;137	ENSP00000447747:V22G;ENSP00000339631:V8G;ENSP00000384133:V8G;ENSP00000448934:V8G;ENSP00000446944:V8G;ENSP00000327959:V137G	ENSP00000327959:V137G	V	+	2	0	TGIF1	3446358	1.000000	0.71417	0.176000	0.23000	0.810000	0.45777	3.515000	0.53429	2.275000	0.75901	0.533000	0.62120	GTT	TGIF1	-	NULL		0.488	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	HGNC	protein_coding	OTTHUMT00000254368.4	T	NM_170695		3456358	1	no_errors	ENST00000330513	ensembl	human	known	70_37	missense	SNP	0.492	G	G	3456358	T	G	3456358	3	3	174	1	0	0	0	0	1	0	0	0	15855	1725	60	5	498	5	TGIF1	18	3456358	Missense_Mutation	SNP	T	TCGA-MU-A51Y-01A-11D-A26G-09		3456358	74620890	157	32951										
SETBP1	26040	genome.wustl.edu	37	chr18	42533025	42533025	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ctgtcactttccgacgcccaGcattggacacaggccaagga	10	14	1	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr18:42533025G>C	ENST00000282030.5	+	4	4016	c.3720G>C	c.(3718-3720)caG>caC	p.Q1240H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1240						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCGACGCCCAGCATTGGACAC	0.542									Schinzel-Giedion syndrome																																								0													79	73	75					18																	42533025		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3720G>C	18.37:g.42533025G>C	ENSP00000282030:p.Gln1240His		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.Q1240H	ENST00000282030.5	37	c.3720	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060110	0.76074	.	.	ENSG00000152217	ENST00000282030	T	0.77229	-1.08	6.17	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	L	0.34521	1.04	0.38376	D	0.945004	B	0.25390	0.125	B	0.19946	0.027	T	0.69289	-0.5184	10	0.62326	D	0.03	.	12.0578	0.53546	0.0629:0.0:0.8164:0.1206	.	1240	Q9Y6X0	SETBP_HUMAN	H	1240	ENSP00000282030:Q1240H	ENSP00000282030:Q1240H	Q	+	3	2	SETBP1	40787023	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.048000	0.64238	1.613000	0.50231	0.655000	0.94253	CAG	SETBP1	-	NULL		0.542	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	G	NM_001130110		42533025	1	no_errors	ENST00000282030	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42533025	G	C	42533025	3	2	174	1	0	0	0	0	1	0	0	0	14159	962	34	4	3923	4	SETBP1	18	42533025	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	39076667	42533025	35544223	158	32952										
TCEB3CL	100506888	genome.wustl.edu	37	chr18	44543759	44543759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gcagccttgacccagcagagGcccgccctgagcggcgtgag	15	15	0	4			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr18:44543759G>A	ENST00000591973.2	-	1	848	c.613C>T	c.(613-615)Cct>Tct	p.P205S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCAGCAGAGGCCCGCCCTGA	0.716																																																	0																																										SO:0001583	missense	100506888				CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.613C>T	18.37:g.44543759G>A	ENSP00000468046:p.Pro205Ser			Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.P205S	ENST00000591973.2	37	c.613	CCDS59316.1	18																																																																																			TCEB3CL2	-	NULL		0.716	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	G	XM_929328		44543759	-1	no_errors	ENST00000591973	ensembl	human	known	70_37	missense	SNP	0.006	A	A	44543759	G	A	44543759	3	1	174	1	0	0	0	0	1	0	0	0	15714	1203	42	4	1029	4	TCEB3CL	18	44543759	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	2010734	44543759	33533489	159	32953										
CCDC11	220136	genome.wustl.edu	37	chr18	47753901	47753901	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tctcggcgtttctcttccttCtctgcttcttgggactgctg	9	13	4	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr18:47753901C>T	ENST00000398545.4	-	8	1512	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTCTTCCTTCTCTGCTTCTT	0.493																																																	0													236	235	235					18																	47753901		2011	4170	6181	SO:0001819	synonymous_variant	220136																														ENST00000398545.4:c.1395G>A	18.37:g.47753901C>T				Silent	SNP	NULL	p.E465	ENST00000398545.4	37	c.1395	CCDS11940.2	18																																																																																			CCDC11	-	NULL		0.493	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	C			47753901	-1	no_errors	ENST00000398545	ensembl	human	known	70_37	silent	SNP	0.636	T	T	47753901	C	T	47753901	2	4	174	1	0	0	0	0	0	0	0	1	2751	912	32	1		1	CCDC11	18	47753901	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	3210142	47753901	30323347	160	32954										
THEG	51298	genome.wustl.edu	37	chr19	362260	362260	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gcttttgggggtggcaagctCatagaggcgaggggacgcct	18	8	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:362260C>G	ENST00000342640.4	-	8	1122	c.1080G>C	c.(1078-1080)atG>atC	p.M360I	THEG_ENST00000346878.2_Missense_Mutation_p.M336I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	360					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.M360I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCAAGCTCATAGAGGCGA	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											170	170	170					19																	362260		2203	4300	6503	SO:0001583	missense	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1080G>C	19.37:g.362260C>G	ENSP00000340088:p.Met360Ile		A6NMJ8	Missense_Mutation	SNP	smart_THEG	p.M360I	ENST00000342640.4	37	c.1080	CCDS12025.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.014413|2.014413	0.35511|0.35511	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000342640;ENST00000346878|ENST00000530711	T;T|.	0.17691|.	2.26;2.29|.	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	1.390360|.	0.04399|.	N|.	0.363908|.	T|.	0.21427|.	0.0516|.	N|N	0.08118|0.08118	0|0	0.24770|0.24770	N|N	0.992871|0.992871	B;B|.	0.32160|.	0.358;0.358|.	B;B|.	0.27608|.	0.081;0.081|.	T|.	0.14420|.	-1.0473|.	10|.	0.59425|.	D|.	0.04|.	-14.2884|-14.2884	11.6076|11.6076	0.51041|0.51041	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	336;360|.	Q9P2T0-2;Q9P2T0|.	.;THEG_HUMAN|.	I|S	360;336|138	ENSP00000340088:M360I;ENSP00000264820:M336I|.	ENSP00000340088:M360I|.	M|X	-|-	3|2	0|2	THEG|THEG	313260|313260	0.969000|0.969000	0.33509|0.33509	0.540000|0.540000	0.28089|0.28089	0.654000|0.654000	0.38779|0.38779	2.907000|2.907000	0.48743|0.48743	2.088000|2.088000	0.63022|0.63022	0.650000|0.650000	0.86243|0.86243	ATG|TGA	THEG	-	NULL		0.607	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THEG	HGNC	protein_coding	OTTHUMT00000384431.2	C			362260	-1	no_errors	ENST00000342640	ensembl	human	known	70_37	missense	SNP	0.892	G	G	362260	C	G	362260	3	3	174	1	0	0	0	0	1	0	0	0	15887	826	29	1	63	1	THEG	19	362260	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09		362260	58766723	161	32955										
RPL36	25873	genome.wustl.edu	37	chr19	5691566	5691566	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gggacgcacatccgcgccaaGaggaagcgggaggagctgag	18	10	0	2	rs116840814		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:5691566G>A	ENST00000577222.1	+	6	796	c.252G>A	c.(250-252)aaG>aaA	p.K84K	RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000347512.3_Silent_p.K84K|RPL36_ENST00000579649.1_Silent_p.K84K|RPL36_ENST00000394580.2_Silent_p.K84K			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	84					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TCCGCGCCAAGAGGAAGCGGG	0.672											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16	19	18					19																	5691566		2200	4287	6487	SO:0001819	synonymous_variant	25873				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.252G>A	19.37:g.5691566G>A		628	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	pfam_Ribosomal_L36e	p.K84	ENST00000577222.1	37	c.252	CCDS12147.1	19																																																																																			RPL36	-	pfam_Ribosomal_L36e		0.672	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	RPL36	HGNC	protein_coding	OTTHUMT00000442561.1	G	NM_015414		5691566	1	no_errors	ENST00000347512	ensembl	human	known	70_37	silent	SNP	1.000	A	A	5691566	G	A	5691566	2	1	174	1	0	0	0	0	0	0	0	1	13616	933	33	1		1	RPL36	19	5691566	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	5329306	5691566	53437417	162	32956										
KHSRP	8570	genome.wustl.edu	37	chr19	6416894	6416894	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggaggacctgggggaccactCtgcaagacaagaggaggagg	18	8	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:6416894C>G	ENST00000398148.3	-	13	1275		c.e13-1		MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGGGACCACTCTGCAAGACAA	0.687																																					Colon(55;593 1006 2067 9135 22980)												0													20	24	23					19																	6416894		1947	4122	6069	SO:0001630	splice_region_variant	8570			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1183-1G>C	19.37:g.6416894C>G			O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	-	e13-1	ENST00000398148.3	37	c.1183-1	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509407	0.64522	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2323	0.89937	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6367894	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	7.220000	0.78008	2.587000	0.87381	0.655000	0.94253	.	KHSRP	-	-		0.687	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1	C		Intron	6416894	-1	no_errors	ENST00000398148	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	6416894	C	G	6416894	5	3	174	1	0	0	0	0	0	0	1	0	8171	927	32	1	985	1	KHSRP	19	6416894	Splice_Site	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	725328	6416894	52712089	163	32957										
MUC16	94025	genome.wustl.edu	37	chr19	9064866	9064866	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	actgaattttcctagtgttaGataaggcaggagttaatgta	10	4	0	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:9064866G>C	ENST00000397910.4	-	3	22783	c.22580C>G	c.(22579-22581)tCt>tGt	p.S7527C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7529	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S7527Y(2)|p.S3160Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTAGTGTTAGATAAGGCAGG	0.483																																																	3	Substitution - Missense(3)	lung(3)											121	116	117					19																	9064866		1983	4169	6152	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22580C>G	19.37:g.9064866G>C	ENSP00000381008:p.Ser7527Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S7527C	ENST00000397910.4	37	c.22580	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	4.375	0.069130	0.08436	.	.	ENSG00000181143	ENST00000397910	T	0.24908	1.83	2.98	-4.02	0.04034	.	.	.	.	.	T	0.22126	0.0533	N	0.19112	0.55	.	.	.	D	0.67145	0.996	P	0.59012	0.85	T	0.20273	-1.0280	8	0.87932	D	0	.	2.7887	0.05381	0.3495:0.0:0.3002:0.3502	.	7527	B5ME49	.	C	7527	ENSP00000381008:S7527C	ENSP00000381008:S7527C	S	-	2	0	MUC16	8925866	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.677000	0.05215	-0.728000	0.04882	-0.224000	0.12420	TCT	MUC16	-	NULL		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9064866	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C	C	9064866	G	C	9064866	3	2	174	1	0	0	0	0	1	0	0	0	9996	942	33	1	21271	1	MUC16	19	9064866	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	2647972	9064866	50064117	164	32958										
ZNF627	199692	genome.wustl.edu	37	chr19	11725659	11725659	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	taggaaaacaatgggaagacCagaacattgaagacccattc	9	8	0	4			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:11725659C>T	ENST00000361113.5	+	3	356	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	ZNF627_ENST00000588174.1_Nonsense_Mutation_p.Q50*	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ATGGGAAGACCAGAACATTGA	0.313																																					Melanoma(112;173 1614 10731 17751 23322)												0													19	20	19					19																	11725659		1808	4089	5897	SO:0001587	stop_gained	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.148C>T	19.37:g.11725659C>T	ENSP00000354414:p.Gln50*		O14846|Q4KMP9|Q6NT81|Q9BRG4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q50*	ENST00000361113.5	37	c.148	CCDS42502.1	19	.	.	.	.	.	.	.	.	.	.	c	17.92	3.507725	0.64410	.	.	ENSG00000198551	ENST00000361113	.	.	.	1.98	0.856	0.19019	.	.	.	.	.	.	.	.	.	.	.	0.47584	D	0.999464	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.7563	0.23516	0.0:0.8308:0.0:0.1692	.	.	.	.	X	50	.	ENSP00000354414:Q50X	Q	+	1	0	ZNF627	11586659	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.077000	0.11394	0.130000	0.18549	0.557000	0.71058	CAG	ZNF627	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.313	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF627	HGNC	protein_coding	OTTHUMT00000458875.1	C	NM_145295		11725659	1	no_errors	ENST00000361113	ensembl	human	known	70_37	nonsense	SNP	0.008	T	T	11725659	C	T	11725659	4	4	174	1	0	0	0	0	0	1	0	0	18081	595	21	4	158	4	ZNF627	19	11725659	Nonsense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	2660793	11725659	47403324	165	32959										
TNPO2	30000	genome.wustl.edu	37	chr19	12816128	12816128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cacgtgaccacccaggccctCggccaggccgctgagcagat	12	17	0	3			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:12816128C>T	ENST00000592287.1	-	17	2056	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	TNPO2_ENST00000588216.1_Missense_Mutation_p.E650K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E650K|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000450764.2_Missense_Mutation_p.E650K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E650K|TNPO2_ENST00000425528.1_Missense_Mutation_p.E650K	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	650					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.E650*(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGGCCCTCGGCCAGGCCG	0.602																																																	2	Substitution - Nonsense(2)	lung(2)											26	28	28					19																	12816128		2151	4253	6404	SO:0001583	missense	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1948G>A	19.37:g.12816128C>T	ENSP00000468434:p.Glu650Lys		O14655|Q6IN77	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.E650K	ENST00000592287.1	37	c.1948	CCDS45991.1	19	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244711	0.79912	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.918;0.989	D	0.83652	0.0156	10	0.66056	D	0.02	-20.3413	18.4706	0.90773	0.0:1.0:0.0:0.0	.	814;650	Q4LE60;O14787	.;TNPO2_HUMAN	K	814;650;650;650;650;650;650	ENSP00000407182:E650K;ENSP00000389648:E650K;ENSP00000397379:E650K;ENSP00000349321:E650K	ENSP00000349321:E650K	E	-	1	0	TNPO2	12677128	1.000000	0.71417	0.994000	0.49952	0.109000	0.19521	7.461000	0.80834	2.654000	0.90174	0.563000	0.77884	GAG	TNPO2	-	superfamily_ARM-type_fold		0.602	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	C	NM_013433		12816128	-1	no_errors	ENST00000425528	ensembl	human	known	70_37	missense	SNP	1.000	T	T	12816128	C	T	12816128	3	4	174	1	0	0	0	0	1	0	0	0	16366	893	31	1	777	1	TNPO2	19	12816128	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	1090469	12816128	46312855	166	32960										
SLC27A1	376497	genome.wustl.edu	37	chr19	17598092	17598092	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cacctcctggacccgctgctGaaggaggcctctactgcccc	10	18	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:17598092G>A	ENST00000252595.7	+	3	769	c.672G>A	c.(670-672)ctG>ctA	p.L224L	SLC27A1_ENST00000598424.1_Silent_p.L45L|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.L224L	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	224	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACCCGCTGCTGAAGGAGGCCT	0.607																																																	0													60	55	57					19																	17598092		2203	4300	6503	SO:0001819	synonymous_variant	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.672G>A	19.37:g.17598092G>A			A6NIH2|B7Z662	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.L224	ENST00000252595.7	37	c.672	CCDS32953.1	19																																																																																			SLC27A1	-	pfam_AMP-dep_Synth/Lig		0.607	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	G	NM_198580		17598092	1	no_errors	ENST00000252595	ensembl	human	known	70_37	silent	SNP	0.962	A	A	17598092	G	A	17598092	2	1	174	1	0	0	0	0	0	0	0	1	14555	1277	45	1		1	SLC27A1	19	17598092	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	4781964	17598092	41530891	167	32961										
ZNF146	7705	genome.wustl.edu	37	chr19	36728009	36728009	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tttgtggaaaagccttctctCagagctcatctctcactgtg	8	11	5	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:36728009C>T	ENST00000443387.2	+	4	1659	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Nonsense_Mutation_p.Q223*	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	223	Interaction with TERF2IP.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q223*(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AGCCTTCTCTCAGAGCTCATC	0.443																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											165	146	152					19																	36728009		2203	4300	6503	SO:0001587	stop_gained	7705			X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"Zinc fingers, C2H2-type"	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.667C>T	19.37:g.36728009C>T	ENSP00000392095:p.Gln223*		Q2TB94	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q223*	ENST00000443387.2	37	c.667	CCDS12492.1	19	.	.	.	.	.	.	.	.	.	.	C	48	13.940454	0.99771	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	.	.	.	4.3	3.27	0.37495	.	0.000000	0.38326	N	0.001724	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-13.7476	7.1172	0.25423	0.1709:0.7375:0.0:0.0916	.	.	.	.	X	223	.	ENSP00000392095:Q223X	Q	+	1	0	ZNF146	41419849	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-0.626000	0.05527	1.415000	0.47037	0.561000	0.74099	CAG	ZNF146	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF146	HGNC	protein_coding	OTTHUMT00000451706.1	C	NM_007145		36728009	1	no_errors	ENST00000443387	ensembl	human	known	70_37	nonsense	SNP	0.543	T	T	36728009	C	T	36728009	4	4	174	1	0	0	0	0	0	1	0	0	17763	827	29	1	669	1	ZNF146	19	36728009	Nonsense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	19129917	36728009	22400974	168	32962										
ZNF221	7638	genome.wustl.edu	37	chr19	44470216	44470216	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	atgtttctgtctttgatcttCatcaacaatcacactcagga	5	10	7	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:44470216C>T	ENST00000251269.5	+	6	890	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	ZNF221_ENST00000587682.1_Missense_Mutation_p.H188Y|ZNF221_ENST00000592350.1_Missense_Mutation_p.H188Y	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTTTGATCTTCATCAACAATC	0.408																																																	0													134	124	128					19																	44470216		2203	4300	6503	SO:0001583	missense	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.562C>T	19.37:g.44470216C>T	ENSP00000251269:p.His188Tyr		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H188Y	ENST00000251269.5	37	c.562	CCDS12633.1	19	.	.	.	.	.	.	.	.	.	.	c	19.28	3.797780	0.70567	.	.	ENSG00000159905	ENST00000251269	D	0.86769	-2.17	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94522	0.8236	H	0.96208	3.785	0.28402	N	0.918599	D	0.67145	0.996	P	0.61592	0.891	D	0.88564	0.3125	9	0.66056	D	0.02	.	12.2846	0.54786	0.0:1.0:0.0:0.0	.	188	Q9UK13	ZN221_HUMAN	Y	188	ENSP00000251269:H188Y	ENSP00000251269:H188Y	H	+	1	0	ZNF221	49162056	0.023000	0.18921	0.237000	0.24090	0.327000	0.28475	1.066000	0.30604	1.430000	0.47334	0.462000	0.41574	CAT	ZNF221	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	HGNC	protein_coding	OTTHUMT00000460068.1	C			44470216	1	no_errors	ENST00000251269	ensembl	human	known	70_37	missense	SNP	0.985	T	T	44470216	C	T	44470216	3	4	174	1	0	0	0	0	1	0	0	0	17805	826	29	1	576	1	ZNF221	19	44470216	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	7742207	44470216	14658767	169	32963										
BCAM	4059	genome.wustl.edu	37	chr19	45322970	45322970	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cctgctgccgccagcggcggGagaagggggctccgtgagtg	19	12	0	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:45322970G>C	ENST00000270233.6	+	13	1772	c.1750G>C	c.(1750-1752)Gag>Cag	p.E584Q	BCAM_ENST00000589651.1_Missense_Mutation_p.E584Q	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	584					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCAGCGGCGGGAGAAGGGGGC	0.632																																																	0													14	17	16					19																	45322970		2185	4249	6434	SO:0001583	missense	4059			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1750G>C	19.37:g.45322970G>C	ENSP00000270233:p.Glu584Gln		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E584Q	ENST00000270233.6	37	c.1750	CCDS12644.1	19	.	.	.	.	.	.	.	.	.	.	.	13.34	2.207477	0.39003	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.59638	0.28;0.25	4.08	4.08	0.47627	.	.	.	.	.	T	0.59487	0.2197	L	0.27053	0.805	0.27922	N	0.938202	D	0.71674	0.998	D	0.75484	0.986	T	0.47446	-0.9117	9	0.09590	T	0.72	-26.5039	12.2337	0.54503	0.0:0.0:1.0:0.0	.	584	P50895	BCAM_HUMAN	Q	584	ENSP00000270233:E584Q;ENSP00000375817:E584Q	ENSP00000270233:E584Q	E	+	1	0	BCAM	50014810	0.996000	0.38824	0.945000	0.38365	0.313000	0.28021	3.002000	0.49496	2.018000	0.59344	0.531000	0.56144	GAG	BCAM	-	NULL		0.632	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	HGNC	protein_coding	OTTHUMT00000453220.1	G	NM_005581		45322970	1	no_errors	ENST00000270233	ensembl	human	known	70_37	missense	SNP	0.976	C	C	45322970	G	C	45322970	3	2	174	1	0	0	0	0	1	0	0	0	1345	1175	41	1	1800	1	BCAM	19	45322970	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	852754	45322970	13806013	170	32964										
SYMPK	8189	genome.wustl.edu	37	chr19	46352129	46352129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tcagcagcaactcaatgtctCgcttgctgagggatggagaa	12	9	3	2	rs540054802		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:46352129C>T	ENST00000245934.7	-	6	549	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	102	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R102Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCAATGTCTCGCTTGCTGAG	0.522													C|||	1	0.000199681	0	0.0014	5008	,	,		24650	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)											130	115	120					19																	46352129		2203	4300	6503	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.305G>A	19.37:g.46352129C>T	ENSP00000245934:p.Arg102Gln		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.R102Q	ENST00000245934.7	37	c.305	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491940	0.44352	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.34072	1.38	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.061987	0.64402	D	0.000006	T	0.13756	0.0333	N	0.05124	-0.11	0.44380	D	0.997282	B;P	0.38617	0.249;0.64	B;B	0.08055	0.002;0.003	T	0.14868	-1.0457	10	0.25106	T	0.35	.	12.1353	0.53968	0.1712:0.8288:0.0:0.0	.	117;102	Q4LE61;Q92797	.;SYMPK_HUMAN	Q	102;106	ENSP00000245934:R102Q	ENSP00000245934:R102Q	R	-	2	0	SYMPK	51043969	0.957000	0.32711	1.000000	0.80357	0.854000	0.48673	3.599000	0.54045	2.710000	0.92621	0.563000	0.77884	CGA	SYMPK	-	superfamily_ARM-type_fold		0.522	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46352129	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46352129	C	T	46352129	3	4	174	1	0	0	0	0	1	0	0	0	15469	884	31	1	3607	1	SYMPK	19	46352129	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	1029159	46352129	12776854	171	32965										
ZNF347	84671	genome.wustl.edu	37	chr19	53652617	53652617	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cacatccctgaatgtcacctGtccctaaaatgaaaaacaca	4	13	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr19:53652617G>A	ENST00000334197.7	-	3	87	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	ZNF347_ENST00000452676.2_Nonsense_Mutation_p.Q7*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.Q7*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AATGTCACCTGTCCCTAAAAT	0.453																																					Melanoma(64;205 1597 17324 45721)												0													70	73	72					19																	53652617		2203	4300	6503	SO:0001587	stop_gained	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.19C>T	19.37:g.53652617G>A	ENSP00000334146:p.Gln7*		B3KU77|B9EG59|G5E9N4|Q8TCN1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q7*	ENST00000334197.7	37	c.19	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270914	0.23221	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	.	.	.	2.38	-0.2	0.13216	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	4.9871	0.14196	0.1496:0.2187:0.6318:0.0	.	.	.	.	X	7	.	ENSP00000334146:Q7X	Q	-	1	0	ZNF347	58344429	0.000000	0.05858	0.005000	0.12908	0.071000	0.16799	-0.062000	0.11674	0.338000	0.23692	0.591000	0.81541	CAG	ZNF347	-	superfamily_Krueppel-associated_box		0.453	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	G	NM_032584		53652617	-1	no_errors	ENST00000452676	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	53652617	G	A	53652617	4	1	174	1	0	0	0	0	0	1	0	0	17891	1386	48	4	2515	4	ZNF347	19	53652617	Nonsense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	7300488	53652617	5476366	172	32966										
PLCB1	23236	genome.wustl.edu	37	chr20	8637834	8637834	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gttgttttatttcccagaatGattcaatacctcaagaagat	6	7	2	4			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr20:8637834G>A	ENST00000338037.6	+	8	625	c.598G>A	c.(598-600)Gat>Aat	p.D200N	PLCB1_ENST00000378641.3_Missense_Mutation_p.D200N|PLCB1_ENST00000378637.2_Missense_Mutation_p.D200N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	200					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCCCAGAATGATTCAATACC	0.398																																																	0													98	99	99					20																	8637834		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.598G>A	20.37:g.8637834G>A	ENSP00000338185:p.Asp200Asn		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D200N	ENST00000338037.6	37	c.598	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.144976	0.94603	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.60672	0.17;0.17;0.17	5.43	5.43	0.79202	.	0.146987	0.64402	D	0.000017	T	0.79997	0.4543	M	0.86864	2.845	0.80722	D	1	B;D	0.71674	0.224;0.998	B;D	0.68192	0.052;0.956	T	0.83099	-0.0129	10	0.87932	D	0	.	19.6091	0.95594	0.0:0.0:1.0:0.0	.	200;200	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	N	200;200;200;120;120	ENSP00000367908:D200N;ENSP00000338185:D200N;ENSP00000367904:D200N	ENSP00000338185:D200N	D	+	1	0	PLCB1	8585834	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.443000	0.97568	2.705000	0.92388	0.650000	0.86243	GAT	PLCB1	-	pirsf_PLC-beta		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8637834	1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8637834	G	A	8637834	3	1	174	1	0	0	0	0	1	0	0	0	12051	1290	45	1	628	1	PLCB1	20	8637834	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		8637834	54387686	173	32967										
COL20A1	57642	genome.wustl.edu	37	chr20	61950537	61950537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	aggacttccagcccctccttGgggttctgctggatggtgac	13	12	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr20:61950537G>A	ENST00000358894.6	+	22	2891	c.2791G>A	c.(2791-2793)Ggg>Agg	p.G931R	COL20A1_ENST00000422202.1_Missense_Mutation_p.G938R|COL20A1_ENST00000326996.6_Missense_Mutation_p.G931R|COL20A1_ENST00000435874.1_Missense_Mutation_p.G938R	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	931	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCCCTCCTTGGGGTTCTGCT	0.662																																																	0													29	32	31					20																	61950537		1957	4138	6095	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2791G>A	20.37:g.61950537G>A	ENSP00000351767:p.Gly931Arg		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G931R	ENST00000358894.6	37	c.2791	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010692	0.35511	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763	T;T;T;T;T	0.02812	4.15;4.15;4.15;4.15;4.15	4.21	3.26	0.37387	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	M	0.83603	2.65	0.43021	D	0.994573	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00222	-1.1904	10	0.87932	D	0	.	9.2643	0.37632	0.1046:0.0:0.8954:0.0	.	938;931	Q9P218-2;Q9P218	.;COKA1_HUMAN	R	931;931;938;938;34	ENSP00000351767:G931R;ENSP00000323077:G931R;ENSP00000408690:G938R;ENSP00000414753:G938R;ENSP00000410799:G34R	ENSP00000323077:G931R	G	+	1	0	COL20A1	61420982	1.000000	0.71417	0.659000	0.29680	0.016000	0.09150	7.144000	0.77357	0.781000	0.33589	-0.390000	0.06520	GGG	COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	G	NM_020882		61950537	1	no_errors	ENST00000326996	ensembl	human	known	70_37	missense	SNP	0.935	A	A	61950537	G	A	61950537	3	1	174	1	0	0	0	0	1	0	0	0	3684	1348	47	4	2873	4	COL20A1	20	61950537	Missense_Mutation	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	53312703	61950537	1074983	174	32968										
PRIC285	85441	genome.wustl.edu	37	chr20	62193337	62193337	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ccacgatcgtcttccctgtaCctgcagccagagaataggag	10	13	1	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr20:62193337C>T	ENST00000467148.1	-	11	6599	c.6530G>A	c.(6529-6531)gGt>gAt	p.G2177D	HELZ2_ENST00000427522.2_Splice_Site_p.G1608D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2177	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTTCCCTGTACCTGCAGCCAG	0.642																																																	0													14	17	16					20																	62193337		2190	4282	6472	SO:0001630	splice_region_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6530-1G>A	20.37:g.62193337C>T			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.G2177D	ENST00000467148.1	37	c.6530	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227135	0.58668	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.99711	-6.49;-6.49	4.37	4.37	0.52481	ATPase, AAA+ type, core (1);	0.198949	0.43110	D	0.000614	D	0.99840	0.9927	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96729	0.9538	10	0.72032	D	0.01	.	12.4478	0.55662	0.0:0.915:0.0:0.085	.	2177;1608	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	D	1608;2177	ENSP00000393257:G1608D;ENSP00000417401:G2177D	ENSP00000393257:G1608D	G	-	2	0	RP4-697K14.7	61663781	1.000000	0.71417	0.454000	0.27019	0.315000	0.28087	4.586000	0.60984	1.997000	0.58415	0.491000	0.48974	GGT	HELZ2	-	NULL		0.642	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335	Missense_Mutation	62193337	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62193337	C	T	62193337	5	4	174	1	0	0	0	0	0	0	1	0	12512	521	18	4	1455	4	PRIC285	20	62193337	Splice_Site	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	242800	62193337	832183	175	32969										
TCP10L	140290	genome.wustl.edu	37	chr21	33954591	33954591	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cgctgcagctgcagagctctCagcttttctcggagctccat	10	14	2	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr21:33954591C>T	ENST00000300258.3	-	3	392	c.279G>A	c.(277-279)ctG>ctA	p.L93L	AP000275.65_ENST00000553001.1_Silent_p.L267L|TCP10L_ENST00000472557.1_Silent_p.L7L	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	93	Leucine-zipper.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						GCAGAGCTCTCAGCTTTTCTC	0.527																																																	0													105	103	104					21																	33954591		2203	4300	6503	SO:0001819	synonymous_variant	140290			AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"t-complex 10 (a murine tcp homolog)-like", "t-complex 10 (mouse)-like"			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.279G>A	21.37:g.33954591C>T			Q53EW0|Q96LN5	Silent	SNP	NULL	p.L93	ENST00000300258.3	37	c.279	CCDS13616.1	21																																																																																			TCP10L	-	NULL		0.527	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10L	HGNC	protein_coding	OTTHUMT00000139350.1	C	NM_144659		33954591	-1	no_errors	ENST00000300258	ensembl	human	known	70_37	silent	SNP	0.004	T	T	33954591	C	T	33954591	2	4	174	1	0	0	0	0	0	0	0	1	15741	813	29	1		1	TCP10L	21	33954591	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09		33954591	14175304	176	32970										
C21orf59	56683	genome.wustl.edu	37	chr21	33982260	33982260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tcttcaatctgatcatcggtCagtccttgcatattaggagg	9	9	5	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr21:33982260C>T	ENST00000290155.3	-	2	817	c.195G>A	c.(193-195)ctG>ctA	p.L65L	AP000275.65_ENST00000553001.1_Silent_p.L65L|C21orf59_ENST00000382549.4_Silent_p.L65L|C21orf59_ENST00000540881.1_Intron	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	65						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						GATCATCGGTCAGTCCTTGCA	0.383																																																	0													121	107	112					21																	33982260		2203	4300	6503	SO:0001819	synonymous_variant	56683			AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"chromosome 21 open reading frame 48"	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.195G>A	21.37:g.33982260C>T			Q53FH0	Silent	SNP	pfam_DUF2870	p.L65	ENST00000290155.3	37	c.195	CCDS13617.1	21																																																																																			C21orf59	-	NULL		0.383	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf59	HGNC	protein_coding	OTTHUMT00000139431.1	C	NM_021254		33982260	-1	no_errors	ENST00000290155	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33982260	C	T	33982260	2	4	174	1	0	0	0	0	0	0	0	1	2135	813	29	1		1	C21orf59	21	33982260	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	27669	33982260	14147635	177	32971										
BACE2	25825	genome.wustl.edu	37	chr21	42609509	42609509	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	caaggaagctggacgggcttCgttggggaagacctcgtcac	15	10	1	1	rs140693856		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr21:42609509C>T	ENST00000330333.6	+	3	934	c.471C>T	c.(469-471)ttC>ttT	p.F157F	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.5_Silent_p.F157F|BACE2_ENST00000328735.6_Silent_p.F157F	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	157					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGACGGGCTTCGTTGGGGAAG	0.443																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	90	72	78		471,471,471	-7.8	0	21	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	BACE2	NM_012105.3,NM_138991.1,NM_138992.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	157/519,157/469,157/397	42609509	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.471C>T	21.37:g.42609509C>T			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1	p.F157	ENST00000330333.6	37	c.471	CCDS13668.1	21																																																																																			BACE2	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.443	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	C			42609509	1	no_errors	ENST00000330333	ensembl	human	known	70_37	silent	SNP	0.000	T	T	42609509	C	T	42609509	2	4	174	1	0	0	0	0	0	0	0	1	1283	883	31	1		1	BACE2	21	42609509	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	8627249	42609509	5520386	178	32972										
PRODH	5625	genome.wustl.edu	37	chr22	18910643	18910643	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cttaccagaaactggggtctCcccagtgctgtgagcttaat	10	11	1	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr22:18910643C>T	ENST00000357068.6	-	5	982	c.717G>A	c.(715-717)ggG>ggA	p.G239G	PRODH_ENST00000420436.1_Silent_p.G131G|PRODH_ENST00000334029.2_Silent_p.G131G	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	239					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	ACTGGGGTCTCCCCAGTGCTG	0.552																																																	0													116	118	117					22																	18910643		2203	4300	6503	SO:0001819	synonymous_variant	5625			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.717G>A	22.37:g.18910643C>T			A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Silent	SNP	pfam_Proline_DH	p.G239	ENST00000357068.6	37	c.717	CCDS13754.1	22																																																																																			PRODH	-	pfam_Proline_DH		0.552	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	HGNC	protein_coding	OTTHUMT00000316637.2	C	NM_016335		18910643	-1	no_errors	ENST00000357068	ensembl	human	known	70_37	silent	SNP	0.997	T	T	18910643	C	T	18910643	2	4	174	1	0	0	0	0	0	0	0	1	12575	842	30	1		1	PRODH	22	18910643	Silent	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09		18910643	32393923	179	32973										
PRODH	5625	genome.wustl.edu	37	chr22	18910678	18910678	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	cttaatggctatgaagccgtCatcgctgactctacctgtca	8	12	3	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr22:18910678C>T	ENST00000357068.6	-	5	947	c.682G>A	c.(682-684)Gac>Aac	p.D228N	PRODH_ENST00000420436.1_Missense_Mutation_p.D120N|PRODH_ENST00000334029.2_Missense_Mutation_p.D120N	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	228					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	ATGAAGCCGTCATCGCTGACT	0.587																																																	0													81	81	81					22																	18910678		2203	4300	6503	SO:0001583	missense	5625			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.682G>A	22.37:g.18910678C>T	ENSP00000349577:p.Asp228Asn		A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	pfam_Proline_DH	p.D228N	ENST00000357068.6	37	c.682	CCDS13754.1	22	.	.	.	.	.	.	.	.	.	.	.	13.80	2.346146	0.41599	.	.	ENSG00000100033	ENST00000357068;ENST00000399694;ENST00000450579	T;T	0.80824	-1.42;-1.42	4.98	3.95	0.45737	Proline dehydrogenase (1);	0.106572	0.64402	D	0.000009	T	0.74283	0.3696	L	0.57536	1.79	0.38983	D	0.958981	B;B;B	0.26635	0.042;0.155;0.052	B;B;B	0.28232	0.081;0.085;0.087	T	0.71203	-0.4662	10	0.30854	T	0.27	-15.3088	8.6691	0.34138	0.0:0.8965:0.0:0.1035	.	144;228;120	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	N	228;21;69	ENSP00000349577:D228N;ENSP00000396806:D69N	ENSP00000334726:D120N	D	-	1	0	PRODH	17290678	0.994000	0.37717	0.065000	0.19835	0.046000	0.14306	4.112000	0.57845	2.510000	0.84645	0.550000	0.68814	GAC	PRODH	-	pfam_Proline_DH		0.587	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	HGNC	protein_coding	OTTHUMT00000316637.2	C	NM_016335		18910678	-1	no_errors	ENST00000357068	ensembl	human	known	70_37	missense	SNP	0.828	T	T	18910678	C	T	18910678	3	4	174	1	0	0	0	0	1	0	0	0	12575	826	29	1	1160	1	PRODH	22	18910678	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	35	18910678	32393888	180	32974										
TRMU	55687	genome.wustl.edu	37	chr22	46739244	46739244	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tcaaatttagttgcttttttCattatgctgtggataatctt	6	5	3	0			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chr22:46739244C>T	ENST00000290846.4	+	3	674	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	TRMU_ENST00000381019.3_Missense_Mutation_p.H112Y|TRMU_ENST00000424260.2_Missense_Mutation_p.H77Y	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	112					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TTGCTTTTTTCATTATGCTGT	0.358																																																	0													125	127	126					22																	46739244		2203	4300	6503	SO:0001583	missense	55687			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.334C>T	22.37:g.46739244C>T	ENSP00000290846:p.His112Tyr		A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase	p.H112Y	ENST00000290846.4	37	c.334	CCDS14075.1	22	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855729	0.32791	.	.	ENSG00000100416	ENST00000290846;ENST00000381019;ENST00000424260	T;T;T	0.72051	-0.62;-0.62;-0.62	4.78	2.61	0.31194	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.410608	0.28989	N	0.013500	T	0.65842	0.2730	L	0.53249	1.67	0.09310	N	1	P;B;B	0.43750	0.816;0.053;0.1	B;B;B	0.41374	0.355;0.053;0.279	T	0.60500	-0.7251	10	0.87932	D	0	-2.224	12.3472	0.55128	0.4719:0.528:0.0:0.0	.	112;112;112	B4DHM1;O75648-2;O75648	.;.;MTU1_HUMAN	Y	112;112;77	ENSP00000290846:H112Y;ENSP00000370407:H112Y;ENSP00000406038:H77Y	ENSP00000290846:H112Y	H	+	1	0	TRMU	45117908	0.002000	0.14202	0.000000	0.03702	0.992000	0.81027	1.519000	0.35888	0.469000	0.27268	0.563000	0.77884	CAT	TRMU	-	pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase		0.358	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMU	HGNC	protein_coding	OTTHUMT00000318042.2	C	NM_018006		46739244	1	no_errors	ENST00000290846	ensembl	human	known	70_37	missense	SNP	0.005	T	T	46739244	C	T	46739244	3	4	174	1	0	0	0	0	1	0	0	0	16602	826	29	1	344	1	TRMU	22	46739244	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	27828566	46739244	4565322	181	32975										
GPR143	4935	genome.wustl.edu	37	chrX	9727434	9727434	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gcatagcaaaacagccaccaGaagcaggcactgtacaacag	9	12	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:9727434G>A	ENST00000467482.1	-	3	539	c.393C>T	c.(391-393)ttC>ttT	p.F131F	GPR143_ENST00000380929.2_Silent_p.F151F			P51810	GP143_HUMAN	G protein-coupled receptor 143	131					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				ACAGCCACCAGAAGCAGGCAC	0.507																																																	0													84	52	63					X																	9727434		2203	4298	6501	SO:0001819	synonymous_variant	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.393C>T	X.37:g.9727434G>A			Q6NTI7	Silent	SNP	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.F151	ENST00000467482.1	37	c.453	CCDS14134.2	X																																																																																			GPR143	-	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1		0.507	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	HGNC	protein_coding	OTTHUMT00000055714.2	G	NM_000273		9727434	-1	no_errors	ENST00000380929	ensembl	human	known	70_37	silent	SNP	1.000	A	A	9727434	G	A	9727434	2	1	174	1	0	0	0	0	0	0	0	1	6670	933	33	1		1	GPR143	23	9727434	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09		9727434	145543126	182	32976										
MAP3K15	389840	genome.wustl.edu	37	chrX	19392605	19392605	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	gaggcctcacctgagggcttGaaggcaattcggttcttctt	12	10	3	2	rs267606415		TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:19392605G>A	ENST00000338883.4	-	20	2762	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000359173.3_Silent_p.F356F|MAP3K15_ENST00000469203.2_Silent_p.F753F|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	921							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGAGGGCTTGAAGGCAATTC	0.592																																																	0													118	86	97					X																	19392605		2203	4300	6503	SO:0001819	synonymous_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2763C>T	X.37:g.19392605G>A			A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F921	ENST00000338883.4	37	c.2763		X																																																																																			MAP3K15	-	superfamily_Kinase-like_dom		0.592	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		G	NM_001001671		19392605	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	silent	SNP	1.000	A	A	19392605	G	A	19392605	2	1	174	1	0	0	0	0	0	0	0	1	9272	1281	45	1		1	MAP3K15	23	19392605	Silent	SNP	G	TCGA-MU-A51Y-01A-11D-A26G-09	9665171	19392605	135877955	183	32977										
CXorf36	79742	genome.wustl.edu	37	chrX	45051184	45051184	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	agggcgccagattttggaatCatctgagtaatttgcaggat	12	6	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:45051184C>T	ENST00000398000.2	-	2	384	c.310G>A	c.(310-312)Gat>Aat	p.D104N	CXorf36_ENST00000477281.1_5'Flank|RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.D104N	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	104						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						ATTTTGGAATCATCTGAGTAA	0.478																																																	0													72	69	70					X																	45051184		2203	4300	6503	SO:0001583	missense	79742			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.310G>A	X.37:g.45051184C>T	ENSP00000381086:p.Asp104Asn		A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	NULL	p.D104N	ENST00000398000.2	37	c.310	CCDS48096.1	X	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247071	0.80024	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.37058	1.43;1.22	5.63	5.63	0.86233	.	0.124477	0.53938	D	0.000044	T	0.59211	0.2177	M	0.72118	2.19	0.40405	D	0.979686	D;D	0.76494	0.999;0.997	D;D	0.71656	0.974;0.922	T	0.59166	-0.7505	10	0.39692	T	0.17	.	16.8893	0.86083	0.0:1.0:0.0:0.0	.	104;104	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	N	104	ENSP00000381086:D104N;ENSP00000367168:D104N	ENSP00000367168:D104N	D	-	1	0	CXorf36	44936128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.066000	0.57520	2.365000	0.80145	0.600000	0.82982	GAT	CXorf36	-	NULL		0.478	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf36	HGNC	protein_coding	OTTHUMT00000056333.2	C	NM_024689		45051184	-1	no_errors	ENST00000398000	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45051184	C	T	45051184	3	4	174	1	0	0	0	0	1	0	0	0	4111	826	29	1	1062	1	CXorf36	23	45051184	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	25658579	45051184	110219376	184	32978										
PCDH11X	27328	genome.wustl.edu	37	chrX	91642930	91642930	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	tggcaactccgatcctgaatCtagtaagtgatacctctctg	8	11	2	2			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:91642930C>T	ENST00000373094.1	+	5	4186	c.3341C>T	c.(3340-3342)tCt>tTt	p.S1114F	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1077F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1104F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1104F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1077F|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1114F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1114					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GATCCTGAATCTAGTAAGTGA	0.458																																					NSCLC(38;925 1092 2571 38200 45895)												0													29	25	26					X																	91642930		2200	4275	6475	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3341C>T	X.37:g.91642930C>T	ENSP00000362186:p.Ser1114Phe		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1114F	ENST00000373094.1	37	c.3341	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752572	0.31046	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.56444	0.54;0.49;0.46;0.52;0.52;0.48	3.56	1.73	0.24493	.	0.122441	0.32372	U	0.006195	T	0.53834	0.1821	L	0.46157	1.445	0.25207	N	0.990008	B;P;P;P;P	0.40032	0.391;0.699;0.699;0.699;0.574	P;P;P;P;P	0.51582	0.674;0.674;0.674;0.674;0.534	T	0.49495	-0.8934	10	0.87932	D	0	.	7.4193	0.27063	0.0:0.736:0.1636:0.1004	.	1077;1104;1114;1104;1114	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	F	1114;1104;1077;1104;1114;1114;1077	ENSP00000362186:S1114F;ENSP00000362189:S1104F;ENSP00000362180:S1077F;ENSP00000355105:S1104F;ENSP00000384758:S1114F;ENSP00000298274:S1077F	ENSP00000298274:S1077F	S	+	2	0	PCDH11X	91529586	1.000000	0.71417	0.840000	0.33206	0.361000	0.29550	3.323000	0.52014	-0.019000	0.14055	-0.336000	0.08194	TCT	PCDH11X	-	NULL		0.458	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91642930	1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	0.998	T	T	91642930	C	T	91642930	3	4	174	1	0	0	0	0	1	0	0	0	11532	913	32	1	3481	1	PCDH11X	23	91642930	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	46591746	91642930	63627630	185	32979										
PNCK	139728	genome.wustl.edu	37	chrX	152938100	152938100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.518918918918919	96	2.783127270983e-37	4.18573107268759	5.10532350532351	3.83990143990144	1.91064094500475e-05	0.000218037849018189	73	ggggatgcacttgagggccaCgaggtgtgcggagccccgct	18	11	0	1			TCGA-MU-A51Y-01A-11D-A26G-09	TCGA-MU-A51Y-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fa750e98-4ce1-4cd0-b560-ff2629b9fac8	72a08b7c-3461-40f1-970c-54eedfdc0279	g.chrX:152938100C>T	ENST00000370150.1	-	3	299	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	PNCK_ENST00000370145.4_Missense_Mutation_p.V58M|PNCK_ENST00000393831.2_Missense_Mutation_p.V41M|PNCK_ENST00000447676.2_Missense_Mutation_p.V124M|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.V41M|PNCK_ENST00000370142.1_Missense_Mutation_p.V41M			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGCCACGAGGTGTGCG	0.697																																																	0													37	36	36					X																	152938100		2202	4298	6500	SO:0001583	missense	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.121G>A	X.37:g.152938100C>T	ENSP00000359169:p.Val41Met		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V124M	ENST00000370150.1	37	c.370		X	.	.	.	.	.	.	.	.	.	.	c	16.27	3.077033	0.55753	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811;ENST00000419804;ENST00000458354;ENST00000418241;ENST00000434652;ENST00000425526;ENST00000423545	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;0.54;0.54;-0.64;-0.64;0.54;0.54	4.41	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46758	U	0.000274	D	0.85991	0.5826	M	0.88031	2.925	0.50313	D	0.999868	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.998;0.999;0.999	D	0.89071	0.3469	10	0.72032	D	0.01	-25.6539	15.0254	0.71667	0.0:1.0:0.0:0.0	.	68;124;58;41	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	M	41;41;41;41;58;124;41;41;41;41;41;41;41;41	ENSP00000340586:V41M;ENSP00000359169:V41M;ENSP00000377417:V41M;ENSP00000359161:V41M;ENSP00000359164:V58M;ENSP00000405950:V124M;ENSP00000415770:V41M;ENSP00000391772:V41M;ENSP00000400671:V41M;ENSP00000401542:V41M;ENSP00000411267:V41M;ENSP00000396128:V41M;ENSP00000407173:V41M;ENSP00000395360:V41M	ENSP00000340586:V41M	V	-	1	0	PNCK	152591294	1.000000	0.71417	0.476000	0.27291	0.580000	0.36256	4.671000	0.61590	1.776000	0.52262	0.431000	0.28591	GTG	PNCK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.697	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	HGNC	protein_coding	OTTHUMT00000061044.2	C	NM_198452		152938100	-1	no_errors	ENST00000447676	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152938100	C	T	152938100	3	4	174	1	0	0	0	0	1	0	0	0	12169	536	19	2	946	2	PNCK	23	152938100	Missense_Mutation	SNP	C	TCGA-MU-A51Y-01A-11D-A26G-09	61295170	152938100	2332460	186	32980										
CASZ1	54897	genome.wustl.edu	37	chr1	10725312	10725312	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ggaggcagctccaggccctcGcgggcaatccgccccaacac	12	18	0	0	rs550872926		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:10725312G>T	ENST00000377022.3	-	5	650	c.333C>A	c.(331-333)cgC>cgA	p.R111R	CASZ1_ENST00000344008.5_Silent_p.R111R|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	111					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAGGCCCTCGCGGGCAATCC	0.672																																																	0													41	47	45					1																	10725312		2203	4300	6503	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.333C>A	1.37:g.10725312G>T			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R111	ENST00000377022.3	37	c.333	CCDS41246.1	1																																																																																			CASZ1	-	NULL		0.672	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	G	NM_017766		10725312	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	silent	SNP	0.029	T	T	10725312	G	T	10725312	2	4	175	1	0	0	0	0	0	0	0	1	2690	1074	38	2		2	CASZ1	1	10725312	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		10725312	238525309	1	32981										
ALDH4A1	8659	genome.wustl.edu	37	chr1	19208252	19208252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tgagctggtgacagtgtcccCaaataggggcccatcagctg	13	11	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:19208252C>A	ENST00000375341.3	-	8	1065	c.808G>T	c.(808-810)Ggg>Tgg	p.G270W	MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G210W|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G270W|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G270W|ALDH4A1_ENST00000454547.1_5'Flank	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	270					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTGTCCCCAAATAGGGGC	0.602																																																	0													77	68	71					1																	19208252		2203	4300	6503	SO:0001583	missense	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.808G>T	1.37:g.19208252C>A	ENSP00000364490:p.Gly270Trp		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.G270W	ENST00000375341.3	37	c.808	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270976	0.59540	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	4.41	3.49	0.39957	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.058184	0.64402	D	0.000001	D	0.93003	0.7773	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93852	0.7146	10	0.87932	D	0	-31.6069	11.3064	0.49338	0.0:0.9088:0.0:0.0912	.	270	P30038	AL4A1_HUMAN	W	270;270;270;210	ENSP00000290597:G270W;ENSP00000364490:G270W;ENSP00000446071:G270W;ENSP00000442988:G210W	ENSP00000290597:G270W	G	-	1	0	ALDH4A1	19080839	1.000000	0.71417	0.940000	0.37924	0.530000	0.34684	6.837000	0.75354	0.970000	0.38263	0.557000	0.71058	GGG	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.602	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	C			19208252	-1	no_errors	ENST00000290597	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19208252	C	A	19208252	3	1	175	1	0	0	0	0	1	0	0	0	501	594	21	4	915	4	ALDH4A1	1	19208252	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	8482940	19208252	230042369	2	32982										
UBR4	23352	genome.wustl.edu	37	chr1	19401341	19401341	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ggtggtcaggggactgagttCaacaggtccttcaggaagct	15	8	3	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:19401341C>T	ENST00000375254.3	-	106	15564	c.15537G>A	c.(15535-15537)ttG>ttA	p.L5179L	RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000429347.2_Silent_p.L702L|UBR4_ENST00000375224.1_Silent_p.L886L|UBR4_ENST00000375217.2_Silent_p.L5172L|UBR4_ENST00000375225.3_Silent_p.L254L|UBR4_ENST00000375226.2_Silent_p.L5155L|UBR4_ENST00000543981.1_Silent_p.L843L|UBR4_ENST00000375267.2_Silent_p.L5200L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5179					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGACTGAGTTCAACAGGTCCT	0.562																																																	0													91	88	89					1																	19401341		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15537G>A	1.37:g.19401341C>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L5200	ENST00000375254.3	37	c.15600	CCDS189.1	1																																																																																			UBR4	-	NULL		0.562	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19401341	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19401341	C	T	19401341	2	4	175	1	0	0	0	0	0	0	0	1	16935	825	29	1		1	UBR4	1	19401341	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	193089	19401341	229849280	3	32983										
AHDC1	27245	genome.wustl.edu	37	chr1	27874770	27874770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ctttggccgctgcgccacccCgctccttcttggctgagcag	11	17	1	1	rs377405108		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:27874770C>T	ENST00000247087.5	-	5	4453	c.3857G>A	c.(3856-3858)cGg>cAg	p.R1286Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.R1286Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1286							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGCGCCACCCCGCTCCTTCTT	0.672																																																	0								C	GLN/ARG	0,4406		0,0,2203	60	62	62		3857	5.4	1	1		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	AHDC1	NM_001029882.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1286/1604	27874770	1,13005	2203	4300	6503	SO:0001583	missense	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3857G>A	1.37:g.27874770C>T	ENSP00000247087:p.Arg1286Gln		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	NULL	p.R1286Q	ENST00000247087.5	37	c.3857	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133353	0.77662	0.0	1.16E-4	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.56611	0.45;0.45	5.42	5.42	0.78866	.	0.000000	0.51477	D	0.000097	T	0.53722	0.1814	N	0.24115	0.695	0.45822	D	0.998698	D	0.62365	0.991	P	0.53518	0.728	T	0.58629	-0.7603	10	0.66056	D	0.02	-11.6898	18.006	0.89209	0.0:1.0:0.0:0.0	.	1286	Q5TGY3	AHDC1_HUMAN	Q	1286	ENSP00000247087:R1286Q;ENSP00000363123:R1286Q	ENSP00000247087:R1286Q	R	-	2	0	AHDC1	27747357	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.244000	0.58728	2.550000	0.86006	0.655000	0.94253	CGG	AHDC1	-	NULL		0.672	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	C			27874770	-1	no_errors	ENST00000247087	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27874770	C	T	27874770	3	4	175	1	0	0	0	0	1	0	0	0	412	652	23	2	958	2	AHDC1	1	27874770	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	8473429	27874770	221375851	4	32984										
GRIK3	2899	genome.wustl.edu	37	chr1	37271868	37271868	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tcctcgttgttcttcaccagCgccgatggcttgctgctcat	9	14	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:37271868C>A	ENST00000373091.3	-	14	2167	c.2151G>T	c.(2149-2151)gcG>gcT	p.A717A	GRIK3_ENST00000373093.4_Silent_p.A717A	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	717					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCTTCACCAGCGCCGATGGCT	0.587																																																	0													110	95	100					1																	37271868		2203	4300	6503	SO:0001819	synonymous_variant	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2151G>T	1.37:g.37271868C>A			A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A717	ENST00000373091.3	37	c.2151	CCDS416.1	1																																																																																			GRIK3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.587	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	C	NM_000831		37271868	-1	no_errors	ENST00000373091	ensembl	human	known	70_37	silent	SNP	0.846	A	A	37271868	C	A	37271868	2	1	175	1	0	0	0	0	0	0	0	1	6795	755	27	2		2	GRIK3	1	37271868	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	9397098	37271868	211978753	5	32985										
DPH2	1802	genome.wustl.edu	37	chr1	44436297	44436297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cagttccctgaccagctattGggagatgctgtggctgtggc	14	10	0	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:44436297G>T	ENST00000255108.3	+	2	349	c.177G>T	c.(175-177)ttG>ttT	p.L59F	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.L59F	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	59					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACCAGCTATTGGGAGATGCTG	0.527																																																	0													247	244	245					1																	44436297		2203	4300	6503	SO:0001583	missense	1802			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.177G>T	1.37:g.44436297G>T	ENSP00000255108:p.Leu59Phe		A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.L59F	ENST00000255108.3	37	c.177	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346161	0.82022	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	T;T	0.52057	0.68;0.68	5.7	1.51	0.23008	.	0.000000	0.64402	D	0.000002	T	0.66066	0.2752	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64575	-0.6375	10	0.87932	D	0	-8.1015	2.5403	0.04724	0.2831:0.1191:0.4763:0.1215	.	59;59	A8MVC9;Q9BQC3	.;DPH2_HUMAN	F	59	ENSP00000255108:L59F;ENSP00000379981:L59F	ENSP00000255108:L59F	L	+	3	2	DPH2	44208884	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	0.741000	0.26202	0.756000	0.33013	0.651000	0.88453	TTG	DPH2	-	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu		0.527	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	G	NM_001384		44436297	1	no_errors	ENST00000255108	ensembl	human	known	70_37	missense	SNP	0.978	T	T	44436297	G	T	44436297	3	4	175	1	0	0	0	0	1	0	0	0	4730	1339	47	4	183	4	DPH2	1	44436297	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	7164429	44436297	204814324	6	32986										
RPE65	6121	genome.wustl.edu	37	chr1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atgttgtaggcaattgaaaaAttttttccaaagcaattacc	6	6	0	1	rs141527042		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:68906582A>T	ENST00000262340.5	-	6	650	c.597T>A	c.(595-597)aaT>aaA	p.N199K		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	199					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.N199K(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CAATTGAAAAATTTTTTCCAA	0.388																																																	1	Substitution - Missense(1)	prostate(1)						A	LYS/ASN	1,4405		0,1,2202	85	89	87		597	-1.1	1	1	dbSNP_134	87	0,8600		0,0,4300	no	missense	RPE65	NM_000329.2	94	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	benign	199/534	68906582	1,13005	2203	4300	6503	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.597T>A	1.37:g.68906582A>T	ENSP00000262340:p.Asn199Lys		A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.N199K	ENST00000262340.5	37	c.597	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	A	3.604	-0.081012	0.07141	2.27E-4	0.0	ENSG00000116745	ENST00000262340	D	0.94330	-3.4	5.43	-1.07	0.09968	.	0.252895	0.46145	D	0.000305	T	0.73369	0.3578	L	0.29908	0.895	0.49798	D	0.999825	B	0.09022	0.002	B	0.08055	0.003	T	0.65356	-0.6188	10	0.02654	T	1	-11.0024	11.6572	0.51325	0.6145:0.0:0.3855:0.0	.	199	Q16518	RPE65_HUMAN	K	199	ENSP00000262340:N199K	ENSP00000262340:N199K	N	-	3	2	RPE65	68679170	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	0.876000	0.28092	-0.164000	0.10927	-0.361000	0.07541	AAT	RPE65	-	pfam_Carotenoid_Oase		0.388	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	A	NM_000329		68906582	-1	no_errors	ENST00000262340	ensembl	human	known	70_37	missense	SNP	0.997	T	T	68906582	A	T	68906582	3	4	175	1	0	0	0	0	1	0	0	0	13575	98	4	5	1040	5	RPE65	1	68906582	Missense_Mutation	SNP	A	TCGA-MU-A5YI-01A-11D-A32I-09	24470285	68906582	180344039	7	32987										
POGZ	23126	genome.wustl.edu	37	chr1	151377334	151377334	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gccatagaaagactcggtctCactttcaccctcaaagagct	7	13	3	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:151377334C>G	ENST00000271715.2	-	19	4491	c.4177G>C	c.(4177-4179)Gag>Cag	p.E1393Q	POGZ_ENST00000531094.1_Missense_Mutation_p.E1331Q|POGZ_ENST00000368863.2_Missense_Mutation_p.E1298Q|POGZ_ENST00000409503.1_Missense_Mutation_p.E1384Q|POGZ_ENST00000361398.3_Missense_Mutation_p.E1340Q|POGZ_ENST00000491586.1_Missense_Mutation_p.E1349Q|POGZ_ENST00000540984.1_Missense_Mutation_p.E755Q|POGZ_ENST00000392723.1_Missense_Mutation_p.E1340Q	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1393					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTCGGTCTCACTTTCACCC	0.498											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													104	103	104					1																	151377334		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.4177G>C	1.37:g.151377334C>G	ENSP00000271715:p.Glu1393Gln	1739	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.E1393Q	ENST00000271715.2	37	c.4177	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770251	0.69992	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.27104	5.64;5.66;5.64;5.61;5.65;5.65;1.69;5.13	5.35	5.35	0.76521	.	0.079842	0.51477	D	0.000081	T	0.24198	0.0586	N	0.14661	0.345	0.45354	D	0.99834	D;P;D;D;D;D	0.67145	0.982;0.941;0.996;0.996;0.99;0.982	P;P;P;P;P;P	0.61874	0.715;0.616;0.895;0.895;0.852;0.715	T	0.12837	-1.0532	10	0.87932	D	0	-19.3388	17.7955	0.88568	0.0:1.0:0.0:0.0	.	1331;1384;1298;1349;1340;1393	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	Q	1340;1393;1340;1298;1384;1331;755;1349	ENSP00000376484:E1340Q;ENSP00000271715:E1393Q;ENSP00000354467:E1340Q;ENSP00000357856:E1298Q;ENSP00000386836:E1384Q;ENSP00000431259:E1331Q;ENSP00000443547:E755Q;ENSP00000418408:E1349Q	ENSP00000271715:E1393Q	E	-	1	0	POGZ	149643958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.674000	0.74487	2.780000	0.95670	0.655000	0.94253	GAG	POGZ	-	NULL		0.498	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	C	NM_207171		151377334	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	missense	SNP	1.000	G	G	151377334	C	G	151377334	3	3	175	1	0	0	0	0	1	0	0	0	12210	835	29	1	59	1	POGZ	1	151377334	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	82470752	151377334	97873287	8	32988										
PGLYRP4	57115	genome.wustl.edu	37	chr1	153312886	153312886	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atgtcgcatgacttgagcctGtctatgtagaaagactggat	11	7	1	4			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:153312886G>C	ENST00000359650.5	-	7	859	c.795C>G	c.(793-795)gaC>gaG	p.D265E	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.D261E	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	265					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGAGCCTGTCTATGTAGA	0.522																																																	0													106	103	104					1																	153312886		2203	4300	6503	SO:0001583	missense	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.795C>G	1.37:g.153312886G>C	ENSP00000352672:p.Asp265Glu		A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.D265E	ENST00000359650.5	37	c.795	CCDS30871.1	1	.	.	.	.	.	.	.	.	.	.	G	8.298	0.819357	0.16607	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.64	1.54	0.23209	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.349953	0.23926	N	0.043199	T	0.04998	0.0134	L	0.41236	1.265	0.22728	N	0.9988	P;P	0.39862	0.642;0.692	B;B	0.40009	0.211;0.316	T	0.23726	-1.0180	10	0.49607	T	0.09	-29.9991	4.4411	0.11575	0.1312:0.2336:0.6351:0.0	.	261;265	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	E	261;265	ENSP00000357728:D261E;ENSP00000352672:D265E	ENSP00000352672:D265E	D	-	3	2	PGLYRP4	151579510	0.991000	0.36638	0.724000	0.30704	0.143000	0.21401	1.548000	0.36201	0.837000	0.34925	0.655000	0.94253	GAC	PGLYRP4	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain		0.522	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGLYRP4	HGNC	protein_coding	OTTHUMT00000089978.1	G	NM_020393		153312886	-1	no_errors	ENST00000359650	ensembl	human	known	70_37	missense	SNP	0.574	C	C	153312886	G	C	153312886	3	2	175	1	0	0	0	0	1	0	0	0	11820	1368	48	4	338	4	PGLYRP4	1	153312886	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	1935552	153312886	95937735	9	32989										
SLC25A44	9673	genome.wustl.edu	37	chr1	156177791	156177791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	caatcccatggatgtcatacGaacccgtgtgcaggtaagac	10	11	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:156177791G>A	ENST00000359511.4	+	3	912	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	SLC25A44_ENST00000423538.2_Missense_Mutation_p.R224Q|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	247					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GATGTCATACGAACCCGTGTG	0.562																																																	0													104	88	94					1																	156177791		2203	4300	6503	SO:0001583	missense	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.740G>A	1.37:g.156177791G>A	ENSP00000352497:p.Arg247Gln		O75034	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R247Q	ENST00000359511.4	37	c.740	CCDS1133.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.139069	0.94560	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	T;T	0.80738	-1.41;-1.41	4.89	4.89	0.63831	Mitochondrial carrier domain (2);	0.071767	0.56097	D	0.000038	D	0.91523	0.7323	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93440	0.6793	10	0.87932	D	0	0.4113	15.6307	0.76906	0.0:0.0:1.0:0.0	.	224;224;247	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	Q	247;224	ENSP00000352497:R247Q;ENSP00000407560:R224Q	ENSP00000352497:R247Q	R	+	2	0	SLC25A44	154444415	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.291000	0.96070	2.536000	0.85505	0.637000	0.83480	CGA	SLC25A44	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.562	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	G	NM_014655		156177791	1	no_errors	ENST00000359511	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156177791	G	A	156177791	3	1	175	1	0	0	0	0	1	0	0	0	14539	1058	37	1	746	1	SLC25A44	1	156177791	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	2864905	156177791	93072830	10	32990										
APOBEC4	403314	genome.wustl.edu	37	chr1	183617855	183617855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aatcgagagagaagcttagcCagtaatatggttttactatt	9	5	0	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:183617855C>A	ENST00000308641.4	-	2	333	c.62G>T	c.(61-63)tGg>tTg	p.W21L	RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	21					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GAAGCTTAGCCAGTAATATGG	0.388																																																	0													113	103	107					1																	183617855		2203	4300	6503	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.62G>T	1.37:g.183617855C>A	ENSP00000310622:p.Trp21Leu		Q8N7F6	Missense_Mutation	SNP	pfam_APOBEC_N	p.W21L	ENST00000308641.4	37	c.62	CCDS1358.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942070	0.73557	.	.	ENSG00000173627	ENST00000308641	T	0.27402	1.67	5.24	5.24	0.73138	.	0.000000	0.51477	D	0.000087	T	0.45418	0.1341	L	0.27053	0.805	0.46981	D	0.999277	D	0.89917	1.0	D	0.85130	0.997	T	0.48399	-0.9039	10	0.87932	D	0	-6.9377	18.441	0.90666	0.0:1.0:0.0:0.0	.	21	Q8WW27	ABEC4_HUMAN	L	21	ENSP00000310622:W21L	ENSP00000310622:W21L	W	-	2	0	APOBEC4	181884478	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.900000	0.63252	2.452000	0.82932	0.650000	0.86243	TGG	APOBEC4	-	NULL		0.388	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC4	HGNC	protein_coding	OTTHUMT00000086126.1	C	NM_203454		183617855	-1	no_errors	ENST00000308641	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183617855	C	A	183617855	3	1	175	1	0	0	0	0	1	0	0	0	796	595	21	4	1045	4	APOBEC4	1	183617855	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	27440064	183617855	65632766	11	32991										
HMCN1	83872	genome.wustl.edu	37	chr1	186113713	186113713	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ttggagtgcctgttctgtgtCatgtggaggaggtgccagac	16	7	2	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:186113713C>A	ENST00000271588.4	+	91	14373	c.14144C>A	c.(14143-14145)tCa>tAa	p.S4715*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S4715*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4715	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTCTGTGTCATGTGGAGGA	0.522																																																	0													179	169	172					1																	186113713		2203	4300	6503	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14144C>A	1.37:g.186113713C>A	ENSP00000271588:p.Ser4715*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.S4715*	ENST00000271588.4	37	c.14144	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	55	23.891751	0.99957	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	.	.	.	X	4715	.	ENSP00000271588:S4715X	S	+	2	0	HMCN1	184380336	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	7.445000	0.80570	2.765000	0.95021	0.650000	0.86243	TCA	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.522	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		186113713	1	no_errors	ENST00000271588	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	186113713	C	A	186113713	4	1	175	1	0	0	0	0	0	1	0	0	7240	838	29	3	14506	3	HMCN1	1	186113713	Nonsense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	2495858	186113713	63136908	12	32992										
GPATCH2	55105	genome.wustl.edu	37	chr1	217688211	217688211	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tgaaccattctcttgttaccCactgggccaggaatgggtac	10	11	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:217688211C>A	ENST00000366935.3	-	6	1229	c.1119G>T	c.(1117-1119)gtG>gtT	p.V373V		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	373					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCTTGTTACCCACTGGGCCAG	0.348																																																	0													46	45	45					1																	217688211		2203	4300	6503	SO:0001819	synonymous_variant	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1119G>T	1.37:g.217688211C>A			Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.V373	ENST00000366935.3	37	c.1119	CCDS1518.1	1																																																																																			GPATCH2	-	NULL		0.348	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	C	NM_018040		217688211	-1	no_errors	ENST00000366935	ensembl	human	known	70_37	silent	SNP	0.370	A	A	217688211	C	A	217688211	2	1	175	1	0	0	0	0	0	0	0	1	6610	581	21	4		4	GPATCH2	1	217688211	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	31574498	217688211	31562410	13	32993										
KIDINS220	57498	genome.wustl.edu	37	chr2	8926071	8926071	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gtcaactctaaatatagccaGaagagtaattccagatataa	6	7	2	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:8926071G>A	ENST00000256707.3	-	17	2210	c.2029C>T	c.(2029-2031)Ctg>Ttg	p.L677L	KIDINS220_ENST00000418530.1_Silent_p.L635L|KIDINS220_ENST00000473731.1_Silent_p.L677L|KIDINS220_ENST00000319688.5_Silent_p.L678L|KIDINS220_ENST00000427284.1_Silent_p.L677L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	677	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATATAGCCAGAAGAGTAATT	0.378																																																	0													105	102	103					2																	8926071		1887	4109	5996	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2029C>T	2.37:g.8926071G>A			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L677	ENST00000256707.3	37	c.2029	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase		0.378	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8926071	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	0.831	A	A	8926071	G	A	8926071	2	1	175	1	0	0	0	0	0	0	0	1	8291	933	33	1		1	KIDINS220	2	8926071	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		8926071	234273302	14	32994										
KIDINS220	57498	genome.wustl.edu	37	chr2	8930014	8930014	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aaaagcaaagacttactaaaGaatatatataagagagccaa	6	5	0	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:8930014G>A	ENST00000256707.3	-	14	1798	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	KIDINS220_ENST00000418530.1_Silent_p.F497F|KIDINS220_ENST00000473731.1_Silent_p.F539F|KIDINS220_ENST00000319688.5_Silent_p.F540F|KIDINS220_ENST00000427284.1_Silent_p.F539F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	539	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTTACTAAAGAATATATATA	0.338																																																	0													47	46	46					2																	8930014		1806	4077	5883	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1617C>T	2.37:g.8930014G>A			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F539	ENST00000256707.3	37	c.1617	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase		0.338	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8930014	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8930014	G	A	8930014	2	1	175	1	0	0	0	0	0	0	0	1	8291	933	33	1		1	KIDINS220	2	8930014	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	3943	8930014	234269359	15	32995										
KIDINS220	57498	genome.wustl.edu	37	chr2	8930028	8930028	+	Missense_Mutation	SNP	G	G	A													0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	actaaagaatatatataagaGagccaagaagctcagtgaca							TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:8930028G>A	ENST00000256707.3	-	14	1784	c.1603C>T	c.(1603-1605)Ctc>Ttc	p.L535F	KIDINS220_ENST00000418530.1_Missense_Mutation_p.L493F|KIDINS220_ENST00000473731.1_Missense_Mutation_p.L535F|KIDINS220_ENST00000319688.5_Missense_Mutation_p.L536F|KIDINS220_ENST00000427284.1_Missense_Mutation_p.L535F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	535	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATATATAAGAGAGCCAAGAAG	0.348																																																	0													64	61	62					2																	8930028		1816	4084	5900	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1603C>T	2.37:g.8930028G>A	ENSP00000256707:p.Leu535Phe		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L535F	ENST00000256707.3	37	c.1603	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024631	0.54683	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.70282	0.67;-0.47;-0.44;-0.33;-0.44;-0.38;-0.37	5.2	0.896	0.19253	KAP P-loop (1);	0.404445	0.27600	N	0.018652	T	0.76644	0.4016	L	0.59436	1.845	0.35252	D	0.778826	B;B;P;P	0.50272	0.007;0.023;0.917;0.933	B;B;P;P	0.59171	0.009;0.072;0.771;0.853	T	0.80621	-0.1301	10	0.41790	T	0.15	.	13.8836	0.63696	0.0:0.5303:0.3662:0.1035	.	536;536;493;535	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	F	282;219;535;535;493;535;536;536	ENSP00000420364:L282F;ENSP00000256707:L535F;ENSP00000411849:L535F;ENSP00000414923:L493F;ENSP00000418974:L535F;ENSP00000419964:L536F;ENSP00000319947:L536F	ENSP00000256707:L535F	L	-	1	0	KIDINS220	8847479	0.997000	0.39634	0.807000	0.32361	0.937000	0.57800	0.743000	0.26231	0.252000	0.21531	0.591000	0.81541	CTC	KIDINS220	-	pfam_KAP_NTPase		0.348	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8930028	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	0.341	A	A	8930028	G	A	8930028	3	1	175	1	0	0	0	0	1	0	0	0	8291	942	33	1	3780	1	KIDINS220	2	8930028	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	14	8930028	234269345	16	32996	215	2								
KIDINS220	57498	genome.wustl.edu	37	chr2	8930035	8930035	+	Silent	SNP	G	G	A													0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aatatatataagagagccaaGaagctcagtgacactgctat							TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:8930035G>A	ENST00000256707.3	-	14	1777	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	KIDINS220_ENST00000418530.1_Silent_p.F490F|KIDINS220_ENST00000473731.1_Silent_p.F532F|KIDINS220_ENST00000319688.5_Silent_p.F533F|KIDINS220_ENST00000427284.1_Silent_p.F532F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	532	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGAGAGCCAAGAAGCTCAGTG	0.358																																																	0													75	71	72					2																	8930035		1820	4090	5910	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1596C>T	2.37:g.8930035G>A			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F532	ENST00000256707.3	37	c.1596	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase		0.358	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8930035	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8930035	G	A	8930035	2	1	175	1	0	0	0	0	0	0	0	1	8291	933	33	1		1	KIDINS220	2	8930035	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	7	8930035	234269338	17	32997	215	2								
DNAJC27	51277	genome.wustl.edu	37	chr2	25180768	25180768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tgccagccacgcatcaagggCgtcaaaggagtctttctgcc	11	13	4	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:25180768C>T	ENST00000264711.2	-	4	505	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	DNAJC27_ENST00000468467.1_5'UTR|DNAJC27_ENST00000534855.1_Missense_Mutation_p.A35T	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	106					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCATCAAGGGCGTCAAAGGAG	0.428																																																	0													111	101	105					2																	25180768		2203	4300	6503	SO:0001583	missense	51277				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"Heat shock proteins / DNAJ (HSP40)"	30290	protein-coding gene	gene with protein product		613527	"rab and DnaJ domain containing"	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.316G>A	2.37:g.25180768C>T	ENSP00000264711:p.Ala106Thr		Q5JV88|Q86Y24	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom	p.A106T	ENST00000264711.2	37	c.316	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641826	0.29157	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	T;T	0.76839	-1.05;-1.05	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.045170	0.85682	D	0.000000	T	0.65322	0.2680	L	0.41573	1.285	0.58432	D	0.999999	B;B	0.19200	0.027;0.034	B;B	0.18871	0.022;0.023	T	0.57452	-0.7809	10	0.02654	T	1	-23.004	12.6711	0.56868	0.165:0.835:0.0:0.0	.	106;106	Q9NZQ0-3;Q9NZQ0	.;DJC27_HUMAN	T	106;35	ENSP00000264711:A106T;ENSP00000440086:A35T	ENSP00000264711:A106T	A	-	1	0	DNAJC27	25034272	0.989000	0.36119	0.996000	0.52242	0.869000	0.49853	2.816000	0.48026	2.750000	0.94351	0.563000	0.77884	GCC	DNAJC27	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.428	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	C	NM_016544		25180768	-1	no_errors	ENST00000264711	ensembl	human	known	70_37	missense	SNP	0.998	T	T	25180768	C	T	25180768	3	4	175	1	0	0	0	0	1	0	0	0	4655	768	27	2	521	2	DNAJC27	2	25180768	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	16250733	25180768	218018605	18	32998										
FSHR	2492	genome.wustl.edu	37	chr2	49190835	49190835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atgatgttcccagtgatggcCaggatgctgataaaccatat	10	8	0	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:49190835C>T	ENST00000406846.2	-	10	1244	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	FSHR_ENST00000346173.3_Silent_p.L313L|FSHR_ENST00000541117.1_Silent_p.L111L|FSHR_ENST00000304421.4_Silent_p.L349L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	375					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CAGTGATGGCCAGGATGCTGA	0.478									Gonadal Dysgenesis, 46 XX																																								0													186	167	173					2																	49190835		2203	4300	6503	SO:0001819	synonymous_variant	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1125G>A	2.37:g.49190835C>T			A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L375	ENST00000406846.2	37	c.1125	CCDS1843.1	2																																																																																			FSHR	-	prints_GPCR_Rhodpsn		0.478	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	C			49190835	-1	no_errors	ENST00000406846	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49190835	C	T	49190835	2	4	175	1	0	0	0	0	0	0	0	1	6091	581	21	4		4	FSHR	2	49190835	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	24010067	49190835	194008538	19	32999										
MRPL53	116540	genome.wustl.edu	37	chr2	74699552	74699553	+	Frame_Shift_Del	DEL	AT	AT	-													0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gcaatcactgagcagttgagAttagtggagcggaccttctc							TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:74699552_74699553delAT	ENST00000258105.7	-	2	798_799	c.137_138delAT	c.(136-138)aatfs	p.N46fs	MRPL53_ENST00000409710.1_Intron	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	46						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						AGCAGTTGAGATTAGTGGAGCG	0.609																																																	0																																										SO:0001589	frameshift_variant	116540			BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"Mitochondrial ribosomal proteins / large subunits"	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.137_138delAT	2.37:g.74699552_74699553delAT	ENSP00000258105:p.Asn46fs			Frame_Shift_Del	DEL	pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold	p.N46fs	ENST00000258105.7	37	c.138_137	CCDS1944.1	2																																																																																			MRPL53	-	pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold		0.609	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL53	HGNC	protein_coding	OTTHUMT00000252225.2	AT	NM_053050		74699553	-1	no_errors	ENST00000258105	ensembl	human	known	70_37	frame_shift_del	DEL	0.999:1.000	-	-	74699553	AT	-	74699552	7	5	175	1	0	1	0	1	0	0	0	0	9840	330	12	0	208	0	MRPL53	2	74699552	Frame_Shift_Del	DEL	AT	TCGA-MU-A5YI-01A-11D-A32I-09	25508717	74699552	168499821	20	33000										
MYO7B	4648	genome.wustl.edu	37	chr2	128350378	128350378	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tccgcccacagctgttcgacCgggagctgtgcctgcggcag	14	15	0	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:128350378C>A	ENST00000409816.2	+	16	2034	c.2002C>A	c.(2002-2004)Cgg>Agg	p.R668R	MYO7B_ENST00000428314.1_Silent_p.R668R|MYO7B_ENST00000389524.4_Silent_p.R668R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	668	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTGTTCGACCGGGAGCTGTG	0.682																																																	0													16	23	21					2																	128350378		2019	4165	6184	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2002C>A	2.37:g.128350378C>A			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R668	ENST00000409816.2	37	c.2002	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.682	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128350378	1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	1.000	A	A	128350378	C	A	128350378	2	1	175	1	0	0	0	0	0	0	0	1	10106	643	23	2		2	MYO7B	2	128350378	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	53650826	128350378	114848995	21	33001										
NEB	4703	genome.wustl.edu	37	chr2	152375507	152375507	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	caagttggcttgtattcaggAcatgattcatgatcagagac	10	7	3	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:152375507A>T	ENST00000172853.10	-	127	17711	c.17564T>A	c.(17563-17565)gTc>gAc	p.V5855D	NEB_ENST00000397345.3_Missense_Mutation_p.V7556D|NEB_ENST00000603639.1_Missense_Mutation_p.V7556D|NEB_ENST00000409198.1_Missense_Mutation_p.V5855D|NEB_ENST00000604864.1_Missense_Mutation_p.V7556D|NEB_ENST00000427231.2_Missense_Mutation_p.V7556D			P20929	NEBU_HUMAN	nebulin	5855					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTATTCAGGACATGATTCAT	0.428																																																	0													145	136	139					2																	152375507		1912	4118	6030	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17564T>A	2.37:g.152375507A>T	ENSP00000172853:p.Val5855Asp		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.V7556D	ENST00000172853.10	37	c.22667		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.049674|4.049674	0.75846|0.75846	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.52526	.|1.44;1.44;1.44;0.66;1.44	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.350657	.|0.32852	.|N	.|0.005567	T|T	0.61862|0.61862	0.2381|0.2381	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.803;0.98;0.999	.|P;P;D	.|0.85130	.|0.492;0.897;0.997	T|T	0.62937|0.62937	-0.6748|-0.6748	5|10	.|0.59425	.|D	.|0.04	.|.	16.5582|16.5582	0.84512|0.84512	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|5855;7556;2286	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	T|D	179|5855;7556;7556;1904;2286;5855	.|ENSP00000386259:V5855D;ENSP00000380505:V7556D;ENSP00000416578:V7556D;ENSP00000410961:V2286D;ENSP00000172853:V5855D	.|ENSP00000172853:V5855D	S|V	-|-	1|2	0|0	NEB|NEB	152083753|152083753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.010000|3.010000	0.49559|0.49559	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TCC|GTC	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.428	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		A	NM_004543		152375507	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152375507	A	T	152375507	3	4	175	1	0	0	0	0	1	0	0	0	10326	275	10	5	3022	5	NEB	2	152375507	Missense_Mutation	SNP	A	TCGA-MU-A5YI-01A-11D-A32I-09	24025129	152375507	90823866	22	33002										
METTL8	79828	genome.wustl.edu	37	chr2	172182597	172182597	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atcatatcttccatagtctcGaaataacagcattcccccag	4	13	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:172182597G>A	ENST00000375258.4	-	8	1137	c.922C>T	c.(922-924)Cga>Tga	p.R308*	METTL8_ENST00000463392.1_5'UTR	NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CCATAGTCTCGAAATAACAGC	0.348																																																	0													49	41	43					2																	172182597		692	1591	2283	SO:0001587	stop_gained	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"tension-induced/inhibited protein"	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.922C>T	2.37:g.172182597G>A	ENSP00000364407:p.Arg308*		Q53TM9|Q53TQ0	Nonsense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_MeTrfase_METTL2_prd	p.R308*	ENST00000375258.4	37	c.922		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.953211|5.953211	0.97139|0.97139	.|.	.|.	ENSG00000123600|ENSG00000123600	ENST00000375258|ENST00000438609	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79730	.|0.4496	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77550	.|-0.2546	.|3	0.02654|.	T|.	1|.	-6.3931|-6.3931	19.8925|19.8925	0.96935|0.96935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	308|143	.|.	ENSP00000364407:R308X|.	R|S	-|-	1|2	2|0	METTL8|METTL8	171890843|171890843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.608000|7.608000	0.82898|0.82898	2.787000|2.787000	0.95880|0.95880	0.650000|0.650000	0.86243|0.86243	CGA|TCG	METTL8	-	pirsf_MeTrfase_METTL2_prd		0.348	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	METTL8	HGNC	protein_coding	OTTHUMT00000255345.3	G	NM_024770		172182597	-1	no_errors	ENST00000375258	ensembl	human	putative	70_37	nonsense	SNP	1.000	A	A	172182597	G	A	172182597	4	1	175	1	0	0	0	0	0	1	0	0	9530	1066	37	1	313	1	METTL8	2	172182597	Nonsense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	19807090	172182597	71016776	23	33003										
TTN	7273	genome.wustl.edu	37	chr2	179446852	179446852	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	agtgatgggtgagcccccatCatctgctggtggcttccagc	13	12	2	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:179446852C>G	ENST00000591111.1	-	265	61545	c.61321G>C	c.(61321-61323)Gat>Cat	p.D20441H	TTN-AS1_ENST00000590743.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13209H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13142H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13017H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22082H|TTN_ENST00000342992.6_Missense_Mutation_p.D19514H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20441	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCCCCCATCATCTGCTGGT	0.458																																																	0													114	113	114					2																	179446852		1873	4123	5996	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61321G>C	2.37:g.179446852C>G	ENSP00000465570:p.Asp20441His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D19514H	ENST00000591111.1	37	c.58540		2	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600252	0.46423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.68	4.79	0.61399	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79015	0.4375	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	P;P;P;P	0.60789	0.879;0.879;0.879;0.879	D	0.84826	0.0799	9	0.87932	D	0	.	15.8729	0.79136	0.1365:0.8635:0.0:0.0	.	13017;13142;13209;20441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	19514;13017;13209;13142;13015	ENSP00000343764:D19514H;ENSP00000434586:D13017H;ENSP00000340554:D13209H;ENSP00000352154:D13142H	ENSP00000340554:D13209H	D	-	1	0	TTN	179155098	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	1.360000	0.45960	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179446852	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179446852	C	G	179446852	3	3	175	1	0	0	0	0	1	0	0	0	16766	826	29	1	41927	1	TTN	2	179446852	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	7264255	179446852	63752521	24	33004										
ARPC2	10109	genome.wustl.edu	37	chr2	219093481	219093481	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atttcgatggggtcctctatCatatttcaaatcctaatgga	7	8	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:219093481C>T	ENST00000295685.10	+	3	391	c.130C>T	c.(130-132)Cat>Tat	p.H44Y	ARPC2_ENST00000315717.5_Missense_Mutation_p.H44Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	44					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GGTCCTCTATCATATTTCAAA	0.413																																																	0													109	108	108					2																	219093481		2203	4300	6503	SO:0001583	missense	10109			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.130C>T	2.37:g.219093481C>T	ENSP00000295685:p.His44Tyr		Q92801|Q9P1D4	Missense_Mutation	SNP	pfam_P34-arc	p.H44Y	ENST00000295685.10	37	c.130	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.073191	0.94000	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.91510	3.215	0.80722	D	1	P	0.49961	0.93	B	0.42522	0.39	T	0.81453	-0.0926	9	0.66056	D	0.02	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	44	O15144	ARPC2_HUMAN	Y	44	.	ENSP00000295685:H44Y	H	+	1	0	ARPC2	218801726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.865000	0.98341	0.655000	0.94253	CAT	ARPC2	-	NULL		0.413	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	C	NM_005731		219093481	1	no_errors	ENST00000295685	ensembl	human	known	70_37	missense	SNP	1.000	T	T	219093481	C	T	219093481	3	4	175	1	0	0	0	0	1	0	0	0	972	826	29	1	140	1	ARPC2	2	219093481	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	39646629	219093481	24105892	25	33005										
COL4A3	1285	genome.wustl.edu	37	chr2	228111453	228111453	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	actgggctacccagggatccCggtaggtttgcatgcctaat	12	11	0	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:228111453C>T	ENST00000396578.3	+	7	602	c.440C>T	c.(439-441)cCg>cTg	p.P147L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	147	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGGGATCCCGGTAGGTTTG	0.438																																																	0													61	60	61					2																	228111453		1840	4086	5926	SO:0001630	splice_region_variant	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.441+1C>T	2.37:g.228111453C>T			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P147L	ENST00000396578.3	37	c.440	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	8.605	0.887768	0.17540	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.96685	-4.09	5.49	-0.807	0.10872	.	0.244896	0.28927	N	0.013683	D	0.93625	0.7964	M	0.83603	2.65	0.52501	D	0.999957	P;P;P;P	0.49559	0.925;0.75;0.803;0.682	B;B;B;B	0.39935	0.314;0.127;0.095;0.106	D	0.87279	0.2291	10	0.54805	T	0.06	.	3.6298	0.08127	0.269:0.4225:0.0:0.3085	.	147;147;147;147	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	147	ENSP00000379823:P147L	ENSP00000323334:P147L	P	+	2	0	COL4A3	227819697	0.075000	0.21258	0.554000	0.28268	0.070000	0.16714	0.027000	0.13621	-0.509000	0.06532	-0.766000	0.03442	CCG	COL4A3	-	pfam_Collagen		0.438	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	C	NM_000091	Missense_Mutation	228111453	1	no_errors	ENST00000396578	ensembl	human	known	70_37	missense	SNP	0.801	T	T	228111453	C	T	228111453	5	4	175	1	0	0	0	0	0	0	1	0	3696	666	23	2	466	2	COL4A3	2	228111453	Splice_Site	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	9017972	228111453	15087920	26	33006										
GOLGA4	2803	genome.wustl.edu	37	chr3	37365218	37365218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	catggttgaaaaacacaagaCagaattggaaagccttaagc	9	7	0	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:37365218C>A	ENST00000361924.2	+	14	2215	c.1841C>A	c.(1840-1842)aCa>aAa	p.T614K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.T636K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	614	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.T614I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAACACAAGACAGAATTGGAA	0.363																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											72	73	73					3																	37365218		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1841C>A	3.37:g.37365218C>A	ENSP00000354486:p.Thr614Lys		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.T614K	ENST00000361924.2	37	c.1841	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145669	0.37923	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.23552	1.92;1.91;1.9	5.07	2.2	0.27929	.	0.502577	0.15254	N	0.272141	T	0.15739	0.0379	L	0.60455	1.87	0.24481	N	0.994345	B;B;B;P	0.36222	0.008;0.004;0.004;0.544	B;B;B;B	0.27380	0.007;0.005;0.003;0.079	T	0.22208	-1.0223	10	0.07030	T	0.85	.	4.2723	0.10792	0.4209:0.389:0.1123:0.0778	.	614;614;636;614	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	614;636;175;485	ENSP00000354486:T614K;ENSP00000349305:T636K;ENSP00000405842:T485K	ENSP00000349305:T636K	T	+	2	0	GOLGA4	37340222	1.000000	0.71417	0.748000	0.31131	0.991000	0.79684	2.732000	0.47352	0.234000	0.21139	-0.182000	0.12963	ACA	GOLGA4	-	NULL		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	C	NM_002078		37365218	1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	0.974	A	A	37365218	C	A	37365218	3	1	175	1	0	0	0	0	1	0	0	0	6574	478	17	4	1965	4	GOLGA4	3	37365218	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		37365218	160657212	27	33007										
SCN5A	6331	genome.wustl.edu	37	chr3	38595846	38595846	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tagtagtggcgcagggcagcCagcttgacaatacactcgcc	12	12	0	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:38595846C>A	ENST00000333535.4	-	27	4886	c.4737G>T	c.(4735-4737)ctG>ctT	p.L1579L	SCN5A_ENST00000423572.2_Silent_p.L1578L|SCN5A_ENST00000414099.2_Silent_p.L1561L|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000443581.1_Silent_p.L1578L|SCN5A_ENST00000425664.1_Silent_p.L1561L|SCN5A_ENST00000450102.2_Silent_p.L1525L|SCN5A_ENST00000449557.2_Silent_p.L1525L|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000451551.2_Silent_p.L1525L|SCN5A_ENST00000413689.1_Silent_p.L1579L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1579					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGGGCAGCCAGCTTGACAA	0.507																																																	0													137	149	145					3																	38595846		2122	4254	6376	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4737G>T	3.37:g.38595846C>A			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.L1579	ENST00000333535.4	37	c.4737	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Ion_trans_dom		0.507	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38595846	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	silent	SNP	0.926	A	A	38595846	C	A	38595846	2	1	175	1	0	0	0	0	0	0	0	1	13952	581	21	4		4	SCN5A	3	38595846	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	1230628	38595846	159426584	28	33008										
ULK4	54986	genome.wustl.edu	37	chr3	41723000	41723000	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	acaactgcatgatacttactGgggaagtaagacatctcgaa	9	8	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:41723000G>T	ENST00000301831.4	-	29	3439	c.2977C>A	c.(2977-2979)Cag>Aag	p.Q993K		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	993					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GATACTTACTGGGGAAGTAAG	0.473																																																	0													113	109	111					3																	41723000		1951	4129	6080	SO:0001630	splice_region_variant	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2978+1C>A	3.37:g.41723000G>T			A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q993K	ENST00000301831.4	37	c.2977	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	g	14.14	2.446785	0.43429	.	.	ENSG00000168038	ENST00000301831	T	0.65364	-0.15	5.75	4.86	0.63082	Armadillo-type fold (1);	0.108664	0.39341	U	0.001386	T	0.43787	0.1263	N	0.24115	0.695	0.80722	D	1	P	0.34934	0.476	B	0.26517	0.07	T	0.40608	-0.9554	10	0.38643	T	0.18	.	11.6096	0.51052	0.0:0.1349:0.7247:0.1403	.	993	Q96C45	ULK4_HUMAN	K	993	ENSP00000301831:Q993K	ENSP00000301831:Q993K	Q	-	1	0	ULK4	41698004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.875000	0.56108	1.400000	0.46741	0.655000	0.94253	CAG	ULK4	-	superfamily_ARM-type_fold		0.473	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	G	XM_929989	Missense_Mutation	41723000	-1	no_errors	ENST00000301831	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41723000	G	T	41723000	5	4	175	1	0	0	0	0	0	0	1	0	17009	1362	47	4	886	4	ULK4	3	41723000	Splice_Site	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	3127154	41723000	156299430	29	33009										
PTPN23	25930	genome.wustl.edu	37	chr3	47447988	47447988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	caggtggtagattactacaaGgaggcatgccgggccttgga	15	8	0	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:47447988G>T	ENST00000265562.4	+	8	722	c.645G>T	c.(643-645)aaG>aaT	p.K215N	PTPN23_ENST00000431726.1_Missense_Mutation_p.K89N	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	215	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTACTACAAGGAGGCATGCC	0.577																																																	0													45	45	45					3																	47447988		2203	4300	6503	SO:0001583	missense	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.645G>T	3.37:g.47447988G>T	ENSP00000265562:p.Lys215Asn		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K215N	ENST00000265562.4	37	c.645	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604335	0.66445	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.17054	2.3	5.61	1.66	0.24008	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	N	0.16266	0.395	0.58432	D	0.999999	B;D	0.76494	0.061;0.999	B;D	0.68765	0.146;0.96	T	0.09207	-1.0685	10	0.34782	T	0.22	-35.3705	4.9435	0.13978	0.3071:0.0:0.5536:0.1393	.	89;215	B4DST5;Q9H3S7	.;PTN23_HUMAN	N	180;215	ENSP00000265562:K215N	ENSP00000265562:K215N	K	+	3	2	PTPN23	47422992	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.824000	0.27379	0.339000	0.23719	-0.142000	0.14014	AAG	PTPN23	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.577	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	G	NM_015466		47447988	1	no_errors	ENST00000265562	ensembl	human	known	70_37	missense	SNP	0.998	T	T	47447988	G	T	47447988	3	4	175	1	0	0	0	0	1	0	0	0	12818	991	35	4	675	4	PTPN23	3	47447988	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	5724988	47447988	150574442	30	33010										
MAP4	4134	genome.wustl.edu	37	chr3	47910709	47910709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ctaaataaaactcactttccCcgcaggttgtttctgtgcac	6	12	2	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:47910709C>A	ENST00000360240.6	-	14	3486	c.2968G>T	c.(2968-2970)Ggg>Tgg	p.G990W	MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000264724.11_Missense_Mutation_p.G725W|MAP4_ENST00000426837.2_Missense_Mutation_p.G2135W|MAP4_ENST00000395734.3_Missense_Mutation_p.G990W|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	990					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CTCACTTTCCCCGCAGGTTGT	0.468																																																	0													128	130	130					3																	47910709		2203	4300	6503	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2968G>T	3.37:g.47910709C>A	ENSP00000353375:p.Gly990Trp		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.G990W	ENST00000360240.6	37	c.2968	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459904	0.84317	.	.	ENSG00000047849	ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000383736	T;T;T;T	0.36699	1.24;2.86;2.87;2.86	5.82	5.82	0.92795	.	.	.	.	.	T	0.52451	0.1735	L	0.32530	0.975	0.41910	D	0.990461	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.53194	-0.8473	9	0.87932	D	0	-14.6032	19.0968	0.93255	0.0:1.0:0.0:0.0	.	710;990;990	P27816-4;P27816-6;P27816	.;.;MAP4_HUMAN	W	725;990;2135;990;710	ENSP00000264724:G725W;ENSP00000379083:G990W;ENSP00000407602:G2135W;ENSP00000353375:G990W	ENSP00000264724:G725W	G	-	1	0	MAP4	47885713	1.000000	0.71417	0.995000	0.50966	0.853000	0.48598	5.072000	0.64389	2.756000	0.94617	0.563000	0.77884	GGG	MAP4	-	NULL		0.468	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	C	NM_002375		47910709	-1	no_errors	ENST00000360240	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47910709	C	A	47910709	3	1	175	1	0	0	0	0	1	0	0	0	9281	623	22	4	665	4	MAP4	3	47910709	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	462721	47910709	150111721	31	33011										
SLC38A3	10991	genome.wustl.edu	37	chr3	50251894	50251894	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ttcctacagaaaagtcccagCaaggagccacacttcactga	7	13	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:50251894C>A	ENST00000420502.1	+	0	315									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		AAAGTCCCAGCAAGGAGCCAC	0.592																																																	0													25	30	29					3																	50251894		2089	4209	6298			10991			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50251894C>A				RNA	SNP	-	NULL	ENST00000420502.1	37	NULL		3																																																																																			SLC38A3	-	-		0.592	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	SLC38A3	HGNC	processed_transcript	OTTHUMT00000345635.2	C	NM_006841		50251894	1	no_errors	ENST00000414604	ensembl	human	known	70_37	rna	SNP	1.000	A	A	50251894	C	A	50251894	1	1	175	0	1	0	0	0	0	0	0	0	14635	709	25	4		4	SLC38A3	3	50251894	RNA	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	2341185	50251894	147770536	32	33012										
NPRL2	10641	genome.wustl.edu	37	chr3	50385987	50385987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ggacaccagtgtcacaacgcCgtagtacctgagagagagag	13	10	1	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:50385987C>A	ENST00000232501.3	-	7	1129	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|NPRL2_ENST00000493465.1_5'UTR|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank|CYB561D2_ENST00000425346.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	231					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTCACAACGCCGTAGTACCTG	0.577																																																	0													146	128	134					3																	50385987		2203	4300	6503	SO:0001583	missense	10641			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.691G>T	3.37:g.50385987C>A	ENSP00000232501:p.Gly231Cys		A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	pfam_NPR2	p.G231C	ENST00000232501.3	37	c.691	CCDS2826.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213417	0.79352	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.65	5.65	0.86999	.	0.045098	0.85682	D	0.000000	D	0.84701	0.5530	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86497	0.1801	9	0.87932	D	0	-18.4762	19.7135	0.96105	0.0:1.0:0.0:0.0	.	231	Q8WTW4	NPRL2_HUMAN	C	231	.	ENSP00000232501:G231C	G	-	1	0	NPRL2	50360991	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.261000	0.78400	2.648000	0.89879	0.655000	0.94253	GGC	NPRL2	-	pfam_NPR2		0.577	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPRL2	HGNC	protein_coding	OTTHUMT00000346299.1	C	NM_006545		50385987	-1	no_errors	ENST00000232501	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50385987	C	A	50385987	3	1	175	1	0	0	0	0	1	0	0	0	10621	652	23	2	471	2	NPRL2	3	50385987	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	134093	50385987	147636443	33	33013										
ARHGAP31	57514	genome.wustl.edu	37	chr3	119132712	119132712	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atgtttttcaggatgaagatGatctggccaatgccctgatc	10	8	2	4			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:119132712G>A	ENST00000264245.4	+	12	2468	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	646					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGATGAAGATGATCTGGCCAA	0.473																																					Pancreas(7;176 297 5394 51128 51241)												0													83	82	82					3																	119132712		1954	4156	6110	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1936G>A	3.37:g.119132712G>A	ENSP00000264245:p.Asp646Asn		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D646N	ENST00000264245.4	37	c.1936	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.082276	0.94050	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.10192	2.9	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	T	0.32315	0.0825	M	0.62723	1.935	0.49798	D	0.999827	D	0.89917	1.0	D	0.91635	0.999	T	0.00697	-1.1605	10	0.59425	D	0.04	.	18.043	0.89324	0.0:0.0:1.0:0.0	.	646	Q2M1Z3	RHG31_HUMAN	N	646	ENSP00000264245:D646N	ENSP00000264245:D646N	D	+	1	0	ARHGAP31	120615402	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.986000	0.76200	2.746000	0.94184	0.655000	0.94253	GAT	ARHGAP31	-	NULL		0.473	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	G			119132712	1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	0.999	A	A	119132712	G	A	119132712	3	1	175	1	0	0	0	0	1	0	0	0	880	1290	45	1	1982	1	ARHGAP31	3	119132712	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	68746725	119132712	78889718	34	33014										
ZNF827	152485	genome.wustl.edu	37	chr4	146823874	146823874	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cttggagtgtattggtcattCtgttcctgcttctcggccaa	10	10	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr4:146823874C>A	ENST00000508784.1	-	2	764	c.537G>T	c.(535-537)caG>caT	p.Q179H	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q179H			Q17R98	ZN827_HUMAN	zinc finger protein 827	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTGGTCATTCTGTTCCTGCT	0.537																																																	0													92	83	86					4																	146823874		2203	4300	6503	SO:0001583	missense	152485			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.537G>T	4.37:g.146823874C>A	ENSP00000421863:p.Gln179His		B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q179H	ENST00000508784.1	37	c.537		4	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212626	0.22289	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.06933	3.24;3.27	5.77	4.91	0.64330	.	0.339213	0.34652	N	0.003793	T	0.04318	0.0119	N	0.08118	0	0.30073	N	0.809892	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.13764	-1.0497	10	0.41790	T	0.15	-14.141	6.9352	0.24463	0.0:0.5634:0.3318:0.1049	.	179;179	Q17R98;Q17R98-2	ZN827_HUMAN;.	H	179;179;178	ENSP00000421863:Q179H;ENSP00000368761:Q179H	ENSP00000281318:Q178H	Q	-	3	2	ZNF827	147043324	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	2.393000	0.44442	1.399000	0.46721	0.561000	0.74099	CAG	ZNF827	-	NULL		0.537	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	HGNC	protein_coding	OTTHUMT00000364654.2	C	NM_178835		146823874	-1	no_errors	ENST00000508784	ensembl	human	known	70_37	missense	SNP	1.000	A	A	146823874	C	A	146823874	3	1	175	1	0	0	0	0	1	0	0	0	18210	912	32	3	2744	3	ZNF827	4	146823874	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		146823874	44330402	35	33015										
GALNTL6	442117	genome.wustl.edu	37	chr4	173942763	173942763	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	catgaaggggaaccagctctGgggataccggaaggtaagag	16	7	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr4:173942763G>T	ENST00000506823.1	+	12	2282	c.1625G>T	c.(1624-1626)tGg>tTg	p.W542L	GALNTL6_ENST00000508122.1_Missense_Mutation_p.W525L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	542	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACCAGCTCTGGGGATACCGG	0.458																																																	0													148	145	146					4																	173942763		2203	4300	6503	SO:0001583	missense	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1625G>T	4.37:g.173942763G>T	ENSP00000423313:p.Trp542Leu		Q2L4S6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.W542L	ENST00000506823.1	37	c.1625	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713423	0.89112	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	D;D	0.94046	-3.34;-3.34	5.81	5.81	0.92471	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000001	D	0.97879	0.9303	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98387	1.0561	10	0.87932	D	0	.	20.0817	0.97778	0.0:0.0:1.0:0.0	.	542	Q49A17	GLTL6_HUMAN	L	542;525	ENSP00000423313:W542L;ENSP00000423827:W525L	ENSP00000423313:W542L	W	+	2	0	GALNTL6	174179338	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.437000	0.97535	2.743000	0.94032	0.650000	0.86243	TGG	GALNTL6	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.458	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	G	NM_001034845		173942763	1	no_errors	ENST00000506823	ensembl	human	known	70_37	missense	SNP	1.000	T	T	173942763	G	T	173942763	3	4	175	1	0	0	0	0	1	0	0	0	6244	1357	47	4	1667	4	GALNTL6	4	173942763	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	27118889	173942763	17211513	36	33016										
RICTOR	253260	genome.wustl.edu	37	chr5	38957826	38957826	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gaaaatccttttggaatggaGagaaatctgcaaattaaaac	8	5	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:38957826G>A	ENST00000357387.3	-	25	2457	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Silent_p.L809L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGGAATGGAGAGAAATCTGC	0.299																																																	0													80	85	84					5																	38957826		2201	4296	6497	SO:0001819	synonymous_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2427C>T	5.37:g.38957826G>A				Silent	SNP	superfamily_ARM-type_fold	p.L809	ENST00000357387.3	37	c.2427	CCDS34148.1	5																																																																																			RICTOR	-	superfamily_ARM-type_fold		0.299	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	G	NM_152756		38957826	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	silent	SNP	0.797	A	A	38957826	G	A	38957826	2	1	175	1	0	0	0	0	0	0	0	1	13388	929	33	1		1	RICTOR	5	38957826	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		38957826	141957434	37	33017										
FAM172A	83989	genome.wustl.edu	37	chr5	93217320	93217320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tctgaactatcagatgatgaCtgtacgtgtatcttcggctt	9	8	3	4			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:93217320C>A	ENST00000395965.3	-	7	784	c.642G>T	c.(640-642)caG>caT	p.Q214H	FAM172A_ENST00000505869.1_Missense_Mutation_p.Q104H|FAM172A_ENST00000509739.1_Missense_Mutation_p.Q67H|FAM172A_ENST00000509163.1_Missense_Mutation_p.Q168H	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	214						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CAGATGATGACTGTACGTGTA	0.348																																																	0													178	169	172					5																	93217320		2203	4299	6502	SO:0001583	missense	83989				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.642G>T	5.37:g.93217320C>A	ENSP00000379294:p.Gln214His		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.Q214H	ENST00000395965.3	37	c.642	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026817	0.35797	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T;T	0.42131	0.98;2.24;2.24;0.98	4.63	1.75	0.24633	Arb2 domain (1);	0.644709	0.16854	N	0.196806	T	0.33147	0.0853	L	0.50333	1.59	0.37958	D	0.932872	B;B;B;B	0.10296	0.001;0.001;0.0;0.003	B;B;B;B	0.08055	0.002;0.001;0.001;0.003	T	0.13308	-1.0514	10	0.46703	T	0.11	-8.5951	6.4389	0.21839	0.147:0.6916:0.0:0.1614	.	67;104;214;214	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	H	214;104;67;168	ENSP00000379294:Q214H;ENSP00000426284:Q104H;ENSP00000421834:Q67H;ENSP00000423841:Q168H	ENSP00000379294:Q214H	Q	-	3	2	FAM172A	93243076	0.764000	0.28473	0.958000	0.39756	0.976000	0.68499	-0.036000	0.12185	0.112000	0.17975	0.650000	0.86243	CAG	FAM172A	-	pfam_Arb2_domain		0.348	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	C	NM_032042		93217320	-1	no_errors	ENST00000395965	ensembl	human	known	70_37	missense	SNP	0.999	A	A	93217320	C	A	93217320	3	1	175	1	0	0	0	0	1	0	0	0	5507	564	20	4	628	4	FAM172A	5	93217320	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	54259494	93217320	87697940	38	33018										
PCDHA2	56146	genome.wustl.edu	37	chr5	140174652	140174652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gcggccagctccgctactccGtccccgaggaggccaaacac	11	18	0	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:140174652G>A	ENST00000526136.1	+	1	103	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V35I|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V35I|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCTACTCCGTCCCCGAGGA	0.706																																																	0													34	40	38					5																	140174652		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.103G>A	5.37:g.140174652G>A	ENSP00000431748:p.Val35Ile		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V35I	ENST00000526136.1	37	c.103	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	g	0.698	-0.791728	0.02884	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.35789	1.29;1.29;1.29	3.66	2.78	0.32641	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.211578	0.22910	N	0.054160	T	0.19327	0.0464	N	0.25060	0.705	0.09310	N	1	P;B;P	0.40578	0.722;0.13;0.722	B;B;B	0.29785	0.075;0.08;0.107	T	0.07966	-1.0745	10	0.30854	T	0.27	.	11.3791	0.49746	0.0905:0.0:0.9095:0.0	.	35;35;35	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	I	35	ENSP00000430584:V35I;ENSP00000367372:V35I;ENSP00000431748:V35I	ENSP00000367372:V35I	V	+	1	0	PCDHA2	140154836	0.029000	0.19370	0.220000	0.23810	0.013000	0.08279	0.291000	0.18994	0.884000	0.36064	-0.274000	0.10170	GTC	PCDHA2	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.706	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	G	NM_018905		140174652	1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.235	A	A	140174652	G	A	140174652	3	1	175	1	0	0	0	0	1	0	0	0	11548	1145	40	2	105	2	PCDHA2	5	140174652	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	46957332	140174652	40740608	39	33019										
JAKMIP2	9832	genome.wustl.edu	37	chr5	147040796	147040796	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	agagcacagagagcagacttGagcctctggatctctccatc	10	12	2	4			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:147040796G>A	ENST00000265272.5	-	3	809	c.342C>T	c.(340-342)ctC>ctT	p.L114L	JAKMIP2_ENST00000333010.6_Silent_p.L72L|JAKMIP2_ENST00000507386.1_Silent_p.L114L	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	114						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGACTTGAGCCTCTGGA	0.562																																																	0													160	154	156					5																	147040796		2203	4300	6503	SO:0001819	synonymous_variant	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.342C>T	5.37:g.147040796G>A			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	NULL	p.L114	ENST00000265272.5	37	c.342	CCDS4285.1	5																																																																																			JAKMIP2	-	NULL		0.562	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	G	NM_014790		147040796	-1	no_errors	ENST00000265272	ensembl	human	known	70_37	silent	SNP	1.000	A	A	147040796	G	A	147040796	2	1	175	1	0	0	0	0	0	0	0	1	7961	1277	45	1		1	JAKMIP2	5	147040796	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	6866144	147040796	33874464	40	33020										
KIAA1191	57179	genome.wustl.edu	37	chr5	175774645	175774645	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	acattcaggtcacggggtttGaggttatgggcccgtggtgg	17	7	2	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:175774645G>C	ENST00000298569.4	-	9	1409	c.876C>G	c.(874-876)ctC>ctG	p.L292L	KIAA1191_ENST00000510164.1_Silent_p.L292L|KIAA1191_ENST00000393725.2_Silent_p.L273L|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	292						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		CACGGGGTTTGAGGTTATGGG	0.542																																																	0													142	141	141					5																	175774645		2203	4300	6503	SO:0001819	synonymous_variant	57179			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.876C>G	5.37:g.175774645G>C			B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Silent	SNP	NULL	p.L292	ENST00000298569.4	37	c.876	CCDS4399.1	5																																																																																			KIAA1191	-	NULL		0.542	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2	G	NM_020444		175774645	-1	no_errors	ENST00000298569	ensembl	human	known	70_37	silent	SNP	1.000	C	C	175774645	G	C	175774645	2	2	175	1	0	0	0	0	0	0	0	1	8232	1277	45	1		1	KIAA1191	5	175774645	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	28733849	175774645	5140615	41	33021										
MDC1	9656	genome.wustl.edu	37	chr6	30680439	30680439	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cctcttctgcatctctgttcCatatagcaggctggctctct	7	14	4	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:30680439C>T	ENST00000376406.3	-	5	1927	c.1280G>A	c.(1279-1281)tGg>tAg	p.W427*	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Nonsense_Mutation_p.W427*	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	427	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ATCTCTGTTCCATATAGCAGG	0.522								Other conserved DNA damage response genes																																									0													86	81	83					6																	30680439		1510	2708	4218	SO:0001587	stop_gained	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1280G>A	6.37:g.30680439C>T	ENSP00000365588:p.Trp427*		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.W427*	ENST00000376406.3	37	c.1280	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.355796	0.98231	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	.	.	.	4.93	4.06	0.47325	.	0.234553	0.22416	N	0.060360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	0.1081	9.3305	0.38018	0.0:0.8996:0.0:0.1004	.	.	.	.	X	427;427;427;299	.	ENSP00000365587:W427X	W	-	2	0	MDC1	30788418	0.001000	0.12720	0.595000	0.28798	0.362000	0.29581	0.375000	0.20518	1.210000	0.43336	0.561000	0.74099	TGG	MDC1	-	NULL		0.522	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	C	NM_014641		30680439	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	nonsense	SNP	0.772	T	T	30680439	C	T	30680439	4	4	175	1	0	0	0	0	0	1	0	0	9426	595	21	4	5033	4	MDC1	6	30680439	Nonsense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		30680439	140434628	42	33022										
C6orf81	221481	genome.wustl.edu	37	chr6	35715376	35715376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	caagccgtacgactgctgagCtacctggcacagaagaatga	11	11	0	4			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:35715376C>T	ENST00000373866.3	+	5	664	c.642C>T	c.(640-642)agC>agT	p.S214S	ARMC12_ENST00000373869.3_Silent_p.S214S|ARMC12_ENST00000288065.2_Silent_p.S241S			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	214						nucleus (GO:0005634)											GACTGCTGAGCTACCTGGCAC	0.488																																																	0													140	135	137					6																	35715376		2203	4300	6503	SO:0001819	synonymous_variant	221481			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"Armadillo repeat containing"	21099	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 81"	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.642C>T	6.37:g.35715376C>T			Q8NEB2|Q96LL8	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S241	ENST00000373866.3	37	c.723		6																																																																																			ARMC12	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.488	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	ARMC12	HGNC	protein_coding	OTTHUMT00000040311.2	C	NM_145028		35715376	1	no_errors	ENST00000288065	ensembl	human	known	70_37	silent	SNP	0.219	T	T	35715376	C	T	35715376	2	4	175	1	0	0	0	0	0	0	0	1	2377	796	28	4		4	C6orf81	6	35715376	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	5034937	35715376	135399691	43	33023										
TDRD6	221400	genome.wustl.edu	37	chr6	46661389	46661389	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ttgaggtgccgctttctcctGatgatgaatcaaaagaattc	9	8	2	5			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:46661389G>C	ENST00000316081.6	+	1	5524	c.5524G>C	c.(5524-5526)Gat>Cat	p.D1842H	TDRD6_ENST00000544460.1_Missense_Mutation_p.D1842H	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1842					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTTTCTCCTGATGATGAATC	0.398																																																	0													59	64	62					6																	46661389		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5524G>C	6.37:g.46661389G>C	ENSP00000346065:p.Asp1842His		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D1842H	ENST00000316081.6	37	c.5524	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254376	0.59212	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14516	2.5;2.5	5.57	4.7	0.59300	.	0.665564	0.14954	N	0.288730	T	0.16514	0.0397	L	0.54323	1.7	0.20703	N	0.999868	D;D	0.76494	0.999;0.998	D;P	0.63192	0.912;0.819	T	0.06285	-1.0835	10	0.52906	T	0.07	-0.1727	11.8998	0.52675	0.0804:0.0:0.9196:0.0	.	1842;1842	F5H5M3;O60522	.;TDRD6_HUMAN	H	1842	ENSP00000443299:D1842H;ENSP00000346065:D1842H	ENSP00000346065:D1842H	D	+	1	0	TDRD6	46769348	0.001000	0.12720	0.287000	0.24848	0.963000	0.63663	0.548000	0.23314	1.352000	0.45808	0.563000	0.77884	GAT	TDRD6	-	NULL		0.398	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46661389	1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.262	C	C	46661389	G	C	46661389	3	2	175	1	0	0	0	0	1	0	0	0	15764	1290	45	1	5526	1	TDRD6	6	46661389	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	10946013	46661389	124453678	44	33024										
NT5DC1	221294	genome.wustl.edu	37	chr6	116558139	116558139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gtattttcagagaatgatgaGgagcaggaggcactgccatc	13	7	1	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:116558139G>T	ENST00000319550.4	+	9	895	c.813G>T	c.(811-813)gaG>gaT	p.E271D		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	271							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGAATGATGAGGAGCAGGAGG	0.463																																					Colon(128;1440 1664 38087 41475 42869)												0													56	52	53					6																	116558139		2203	4300	6503	SO:0001583	missense	221294			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic II-like 1"	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.813G>T	6.37:g.116558139G>T	ENSP00000326858:p.Glu271Asp		B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom	p.E271D	ENST00000319550.4	37	c.813	CCDS5104.1	6	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856353	0.51376	.	.	ENSG00000178425	ENST00000319550	T	0.22336	1.96	4.38	1.47	0.22746	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	M	0.66939	2.045	0.44852	D	0.997866	P;D;D	0.67145	0.947;0.992;0.996	P;D;D	0.67231	0.856;0.949;0.95	T	0.17258	-1.0375	10	0.12103	T	0.63	-0.6833	8.994	0.36041	0.4063:0.0:0.5937:0.0	.	221;271;271	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	D	271	ENSP00000326858:E271D	ENSP00000326858:E271D	E	+	3	2	NT5DC1	116664832	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.221000	0.32503	0.393000	0.25203	0.650000	0.86243	GAG	NT5DC1	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom		0.463	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC1	HGNC	protein_coding	OTTHUMT00000041931.3	G	NM_152729		116558139	1	no_errors	ENST00000319550	ensembl	human	known	70_37	missense	SNP	0.999	T	T	116558139	G	T	116558139	3	4	175	1	0	0	0	0	1	0	0	0	10714	991	35	4	847	4	NT5DC1	6	116558139	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	69896750	116558139	54556928	45	33025										
LAMA2	3908	genome.wustl.edu	37	chr6	129786308	129786308	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	agagagatttcatgagtgtgGagctcactgatgggcacata	13	6	2	4			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:129786308G>T	ENST00000421865.2	+	51	7223	c.7174G>T	c.(7174-7176)Gag>Tag	p.E2392*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2392	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATGAGTGTGGAGCTCACTGA	0.393																																																	0													109	101	103					6																	129786308		2203	4300	6503	SO:0001587	stop_gained	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7174G>T	6.37:g.129786308G>T	ENSP00000400365:p.Glu2392*		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E2392*	ENST00000421865.2	37	c.7174	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	49	15.190366	0.99825	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2036	0.93720	0.0:0.0:1.0:0.0	.	.	.	.	X	2392;2391;2392;410	.	.	E	+	1	0	LAMA2	129828001	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	9.230000	0.95299	2.552000	0.86080	0.655000	0.94253	GAG	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.393	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129786308	1	no_errors	ENST00000421865	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	129786308	G	T	129786308	4	4	175	1	0	0	0	0	0	1	0	0	8626	1175	41	3	7376	3	LAMA2	6	129786308	Nonsense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	13228169	129786308	41328759	46	33026										
TAAR5	9038	genome.wustl.edu	37	chr6	132910643	132910643	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ggcgtgtgaagcgctttgaaGtaggacacagcaaatgccac	13	9	0	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:132910643G>T	ENST00000258034.2	-	1	234	c.183C>A	c.(181-183)taC>taA	p.Y61*		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	61					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCGCTTTGAAGTAGGACACAG	0.547																																																	0													192	188	190					6																	132910643		2203	4300	6503	SO:0001587	stop_gained	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.183C>A	6.37:g.132910643G>T	ENSP00000258034:p.Tyr61*		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.Y61*	ENST00000258034.2	37	c.183	CCDS5156.1	6	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756052	0.89843	.	.	ENSG00000135569	ENST00000258034	.	.	.	5.43	2.71	0.32032	.	0.113463	0.35970	N	0.002863	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-15.5446	8.6304	0.33915	0.3825:0.0:0.6174:0.0	.	.	.	.	X	61	.	ENSP00000258034:Y61X	Y	-	3	2	TAAR5	132952336	0.235000	0.23794	0.994000	0.49952	0.954000	0.61252	-0.136000	0.10405	0.420000	0.25954	-0.150000	0.13652	TAC	TAAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Trace_amine_rcpt		0.547	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1	G	NM_003967		132910643	-1	no_errors	ENST00000258034	ensembl	human	known	70_37	nonsense	SNP	0.963	T	T	132910643	G	T	132910643	4	4	175	1	0	0	0	0	0	1	0	0	15521	1024	36	4	834	4	TAAR5	6	132910643	Nonsense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	3124335	132910643	38204424	47	33027										
UST	10090	genome.wustl.edu	37	chr6	149340342	149340342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	caggttattttacatcattcCgtacttttgtggacagcatc	7	9	1	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:149340342C>A	ENST00000367463.4	+	6	852	c.749C>A	c.(748-750)cCg>cAg	p.P250Q		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	250					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TACATCATTCCGTACTTTTGT	0.473																																																	0													161	153	156					6																	149340342		2203	4300	6503	SO:0001583	missense	10090			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"Sulfotransferases, membrane-bound"	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.749C>A	6.37:g.149340342C>A	ENSP00000356433:p.Pro250Gln		B2RCX6	Missense_Mutation	SNP	pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase	p.P250Q	ENST00000367463.4	37	c.749	CCDS5213.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.227438	0.95173	.	.	ENSG00000111962	ENST00000367463	T	0.48201	0.82	5.95	5.95	0.96441	.	0.102252	0.64402	D	0.000002	T	0.52158	0.1717	L	0.54965	1.715	0.80722	D	1	P	0.49783	0.928	P	0.58077	0.832	T	0.23904	-1.0175	10	0.21014	T	0.42	-18.3894	20.3932	0.98965	0.0:1.0:0.0:0.0	.	250	Q9Y2C2	UST_HUMAN	Q	250	ENSP00000356433:P250Q	ENSP00000356433:P250Q	P	+	2	0	UST	149382035	1.000000	0.71417	0.887000	0.34795	0.993000	0.82548	7.794000	0.85869	2.824000	0.97209	0.655000	0.94253	CCG	UST	-	pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase		0.473	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UST	HGNC	protein_coding	OTTHUMT00000043363.1	C	NM_005715		149340342	1	no_errors	ENST00000367463	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149340342	C	A	149340342	3	1	175	1	0	0	0	0	1	0	0	0	17124	652	23	2	771	2	UST	6	149340342	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	16429699	149340342	21774725	48	33028										
IYD	389434	genome.wustl.edu	37	chr6	150716577	150716577	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ctggcattgatttccttcctGaatctgtaagcaggtaaata	8	8	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:150716577G>T	ENST00000344419.3	+	4	827				IYD_ENST00000392255.3_Intron|IYD_ENST00000425615.3_Silent_p.L190L|IYD_ENST00000392256.2_Silent_p.L245L|IYD_ENST00000500320.3_Intron|IYD_ENST00000229447.5_Intron	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TTTCCTTCCTGAATCTGTAAG	0.448											OREG0017729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79	70	73					6																	150716577		692	1591	2283	SO:0001627	intron_variant	389434			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.687+1186G>T	6.37:g.150716577G>T		1734	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	pfam_Nitroreductase-like,superfamily_Nitroreductase-like	p.L245	ENST00000344419.3	37	c.735	CCDS5227.1	6																																																																																			IYD	-	NULL		0.448	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IYD	HGNC	protein_coding	OTTHUMT00000043754.3	G	NM_203395		150716577	1	no_errors	ENST00000367335	ensembl	human	known	70_37	silent	SNP	0.000	T	T	150716577	G	T	150716577	1	4	175	0	1	0	0	0	0	0	0	0	7952	1277	45	3		3	IYD	6	150716577	Intron	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	1376235	150716577	20398490	49	33029										
TRA2A	29896	genome.wustl.edu	37	chr7	23545179	23545179	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aattgcaaccattccgttatCaatagcgtcctaaaagagaa	6	9	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:23545179C>T	ENST00000297071.4	-	8	1064	c.848G>A	c.(847-849)tGa>tAa	p.*283*	TRA2A_ENST00000392502.4_Silent_p.*181*|TRA2A_ENST00000474586.1_5'Flank|TRA2A_ENST00000538367.1_Silent_p.*182*	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	0					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ATTCCGTTATCAATAGCGTCC	0.274																																					Pancreas(121;2137 2973 46590)												0													12	12	12					7																	23545179		1217	2256	3473	SO:0001819	synonymous_variant	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.848G>A	7.37:g.23545179C>T			B4DUA9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.*283	ENST00000297071.4	37	c.848	CCDS5383.1	7																																																																																			TRA2A	-	NULL		0.274	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	C	NM_013293		23545179	-1	no_errors	ENST00000297071	ensembl	human	known	70_37	silent	SNP	0.971	T	T	23545179	C	T	23545179	2	4	175	1	0	0	0	0	0	0	0	1	16464	837	29	1		1	TRA2A	7	23545179	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		23545179	135593484	50	33030										
EPDR1	54749	genome.wustl.edu	37	chr7	37960261	37960261	+	5'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cagtgaaaaccgaagcggcaGaaggcagtggcagcaggcag	16	9	0	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:37960261G>C	ENST00000199448.4	+	0	99				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000559325.1_Missense_Mutation_p.R27T|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CGAAGCGGCAGAAGGCAGTGG	0.622																																																	0													22	26	25					7																	37960261		2202	4300	6502	SO:0001623	5_prime_UTR_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-281G>C	7.37:g.37960261G>C			A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.R27T	ENST00000199448.4	37	c.80	CCDS5454.2	7	.	.	.	.	.	.	.	.	.	.	G	5.580	0.291901	0.10567	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	0.14	0.14	0.14804	.	.	.	.	.	T	0.15652	0.0377	N	0.08118	0	0.20638	N	0.99987	B	0.06786	0.001	B	0.04013	0.001	T	0.28490	-1.0042	7	0.20519	T	0.43	.	.	.	.	.	27	A4D1W8	.	T	27;1	.	ENSP00000199448:R27T	R	+	2	0	EPDR1	37926786	0.016000	0.18221	0.177000	0.23020	0.058000	0.15608	1.776000	0.38594	0.182000	0.20032	0.185000	0.17295	AGA	EPDR1	-	NULL		0.622	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	G	NM_017549		37960261	1	no_errors	ENST00000559325	ensembl	human	known	70_37	missense	SNP	0.205	C	C	37960261	G	C	37960261	1	2	175	0	1	0	0	0	0	0	0	0	5175	942	33	1		1	EPDR1	7	37960261	5'UTR	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	14415082	37960261	121178402	51	33031										
DDC	1644	genome.wustl.edu	37	chr7	50605581	50605581	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gatcactcctcccccttctcCagctttctcattcaaaaatg	3	16	4	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:50605581C>A	ENST00000444124.2	-	4	612	c.412G>T	c.(412-414)Gga>Tga	p.G138*	DDC_ENST00000426377.1_Intron|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Nonsense_Mutation_p.G138*|DDC_ENST00000431062.1_Nonsense_Mutation_p.G138*|DDC_ENST00000357936.5_Nonsense_Mutation_p.G138*|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	138	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCCCCTTCTCCAGCTTTCTCA	0.562																																																	0													120	110	114					7																	50605581		2203	4300	6503	SO:0001587	stop_gained	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.412G>T	7.37:g.50605581C>A	ENSP00000403644:p.Gly138*		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Nonsense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.G138*	ENST00000444124.2	37	c.412	CCDS5511.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.887497	0.97068	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	.	.	.	5.72	5.72	0.89469	.	0.047231	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.7141	19.8646	0.96799	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000350616:G138X	G	-	1	0	DDC	50573075	0.991000	0.36638	0.684000	0.30055	0.360000	0.29518	3.209000	0.51122	2.702000	0.92279	0.655000	0.94253	GGA	DDC	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.562	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	HGNC	protein_coding	OTTHUMT00000342593.1	C			50605581	-1	no_errors	ENST00000357936	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	50605581	C	A	50605581	4	1	175	1	0	0	0	0	0	1	0	0	4330	603	21	4	1074	4	DDC	7	50605581	Nonsense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	12645320	50605581	108533082	52	33032										
ELN	2006	genome.wustl.edu	37	chr7	73452044	73452044	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cttccctctgcagcgctgggGcctggaggcaaacctcttaa	11	14	2	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:73452044G>T	ENST00000252034.7	+	4	570	c.171G>T	c.(169-171)ggG>ggT	p.G57G	ELN_ENST00000458204.1_Silent_p.G47G|ELN_ENST00000320492.7_Silent_p.G57G|ELN_ENST00000380576.5_Silent_p.G57G|ELN_ENST00000358929.4_Silent_p.G57G|ELN_ENST00000380553.4_Silent_p.G57G|ELN_ENST00000380584.4_Silent_p.G57G|ELN_ENST00000380575.4_Silent_p.G47G|ELN_ENST00000380562.4_Silent_p.G57G|ELN_ENST00000320399.6_Silent_p.G57G|ELN_ENST00000429192.1_Silent_p.G57G|ELN_ENST00000414324.1_Silent_p.G47G|ELN_ENST00000445912.1_Silent_p.G57G|ELN_ENST00000357036.5_Silent_p.G57G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	57					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CAGCGCTGGGGCCTGGAGGCA	0.587			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													82	60	68					7																	73452044		2203	4300	6503	SO:0001819	synonymous_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.171G>T	7.37:g.73452044G>T			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	prints_Tropoelastin	p.G57	ENST00000252034.7	37	c.171	CCDS5562.2	7																																																																																			ELN	-	NULL		0.587	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	G	NM_000501		73452044	1	no_errors	ENST00000358929	ensembl	human	known	70_37	silent	SNP	0.644	T	T	73452044	G	T	73452044	2	4	175	1	0	0	0	0	0	0	0	1	5083	1190	42	4		4	ELN	7	73452044	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	22846463	73452044	85686619	53	33033										
SEMA3E	9723	genome.wustl.edu	37	chr7	83021871	83021871	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aatcaggtagcacgtctcacCtttttgcatgtgtgcctgtt	9	10	2	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:83021871C>A	ENST00000307792.3	-	14	2134	c.1667G>T	c.(1666-1668)aGg>aTg	p.R556M	SEMA3E_ENST00000427262.1_Splice_Site_p.R496M	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	556					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CACGTCTCACCTTTTTGCATG	0.438																																																	0													99	87	91					7																	83021871		2203	4300	6503	SO:0001630	splice_region_variant	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1667+1G>T	7.37:g.83021871C>A			B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.R556M	ENST00000307792.3	37	c.1667	CCDS34674.1	7	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657757	0.67586	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.22945	1.93;1.93	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.53408	-0.8443	9	.	.	.	.	19.3565	0.94416	0.0:1.0:0.0:0.0	.	556	O15041	SEM3E_HUMAN	M	556;496;556	ENSP00000303212:R556M;ENSP00000405052:R496M	.	R	-	2	0	SEMA3E	82859807	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.248000	0.65421	2.652000	0.90054	0.585000	0.79938	AGG	SEMA3E	-	superfamily_Plexin-like_fold,smart_Plexin-like		0.438	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3E	HGNC	protein_coding	OTTHUMT00000336606.1	C	NM_012431	Missense_Mutation	83021871	-1	no_errors	ENST00000307792	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83021871	C	A	83021871	5	1	175	1	0	0	0	0	0	0	1	0	14058	695	24	4	676	4	SEMA3E	7	83021871	Splice_Site	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	9569827	83021871	76116792	54	33034										
FBXL13	222235	genome.wustl.edu	37	chr7	102566785	102566785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cagattgagacacaggacccCcgggcagccctcagaaatgt	11	13	1	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:102566785C>A	ENST00000313221.4	-	10	1240	c.814G>T	c.(814-816)Ggg>Tgg	p.G272W	FBXL13_ENST00000379305.3_Missense_Mutation_p.G272W|FBXL13_ENST00000455112.2_Missense_Mutation_p.G272W|FBXL13_ENST00000393772.2_Missense_Mutation_p.G272W|FBXL13_ENST00000436908.1_Missense_Mutation_p.G272W|FBXL13_ENST00000379308.3_Missense_Mutation_p.G272W|FBXL13_ENST00000379306.3_Missense_Mutation_p.G272W|LRRC17_ENST00000249377.4_Intron|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.G272W	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	272										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CACAGGACCCCCGGGCAGCCC	0.433																																																	0													67	63	64					7																	102566785		2203	4300	6503	SO:0001583	missense	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.814G>T	7.37:g.102566785C>A	ENSP00000321927:p.Gly272Trp		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.G272W	ENST00000313221.4	37	c.814	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761471	0.49468	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.02631	4.3;4.3;4.22;4.3;4.3;4.3;4.22;4.3	5.42	5.42	0.78866	.	0.350355	0.26156	N	0.026014	T	0.12220	0.0297	M	0.76574	2.34	0.21064	N	0.999799	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.973;0.998;0.999;0.94	T	0.09997	-1.0649	10	0.72032	D	0.01	.	7.5597	0.27845	0.1656:0.7509:0.0:0.0835	.	272;272;272;272	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	W	272	ENSP00000377367:G272W;ENSP00000368610:G272W;ENSP00000368608:G272W;ENSP00000368607:G272W;ENSP00000388608:G272W;ENSP00000321927:G272W;ENSP00000409716:G272W;ENSP00000391550:G272W	ENSP00000321927:G272W	G	-	1	0	FBXL13	102354021	0.015000	0.18098	0.702000	0.30337	0.536000	0.34869	0.627000	0.24506	2.711000	0.92665	0.655000	0.94253	GGG	FBXL13	-	NULL		0.433	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	C	NM_145032		102566785	-1	no_errors	ENST00000313221	ensembl	human	known	70_37	missense	SNP	0.066	A	A	102566785	C	A	102566785	3	1	175	1	0	0	0	0	1	0	0	0	5727	623	22	4	1437	4	FBXL13	7	102566785	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	19544914	102566785	56571878	55	33035										
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518693	113518693	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atagacatggtttcttccttCtccatttcatctacacgtac	4	12	4	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:113518693C>T	ENST00000284601.3	-	4	2522	c.2454G>A	c.(2452-2454)gaG>gaA	p.E818E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	818					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTTCCTTCTCCATTTCAT	0.383																																																	0													150	126	134					7																	113518693		2203	4300	6503	SO:0001819	synonymous_variant	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2454G>A	7.37:g.113518693C>T			A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	pfam_CBM_21,pfscan_CBM_21	p.E818	ENST00000284601.3	37	c.2454	CCDS5759.1	7																																																																																			PPP1R3A	-	NULL		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	C	NM_002711		113518693	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	silent	SNP	0.005	T	T	113518693	C	T	113518693	2	4	175	1	0	0	0	0	0	0	0	1	12398	912	32	1		1	PPP1R3A	7	113518693	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	10951908	113518693	45619970	56	33036										
TRYX3	136541	genome.wustl.edu	37	chr7	141955406	141955406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aaagcgggtggatcaggactCcagcgcagggcaagtagtca	15	9	2	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:141955406C>T	ENST00000552471.1	-	2	447	c.128G>A	c.(127-129)gGa>gAa	p.G43E	PRSS58_ENST00000547058.2_Missense_Mutation_p.G43E			Q8IYP2	PRS58_HUMAN	protease, serine, 58	43	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GATCAGGACTCCAGCGCAGGG	0.488																																																	0													82	79	80					7																	141955406		2203	4300	6503	SO:0001583	missense	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.128G>A	7.37:g.141955406C>T	ENSP00000446916:p.Gly43Glu		B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.G43E	ENST00000552471.1	37	c.128	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354545	0.82243	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.93488	-3.23;-3.23	5.0	5.0	0.66597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.98105	0.9375	H	0.98351	4.21	0.45930	D	0.998768	D	0.89917	1.0	D	0.97110	1.0	D	0.99232	1.0882	9	0.87932	D	0	.	15.8333	0.78778	0.0:1.0:0.0:0.0	.	43	Q8IYP2	PRS58_HUMAN	E	43	ENSP00000447588:G43E;ENSP00000446916:G43E	ENSP00000307206:G43E	G	-	2	0	PRSS58	141601883	0.913000	0.31002	0.117000	0.21633	0.204000	0.24138	4.892000	0.63193	2.608000	0.88229	0.655000	0.94253	GGA	PRSS58	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6		0.488	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	C	NM_001001317		141955406	-1	no_errors	ENST00000547058	ensembl	human	known	70_37	missense	SNP	0.889	T	T	141955406	C	T	141955406	3	4	175	1	0	0	0	0	1	0	0	0	16635	855	30	1	613	1	TRYX3	7	141955406	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	28436713	141955406	17183257	57	33037										
CNTNAP2	26047	genome.wustl.edu	37	chr7	147964216	147964216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gctctttctgggaaaagttaTaggtaagaatgtggttcgtt	12	4	2	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:147964216T>C	ENST00000361727.3	+	21	3989	c.3473T>C	c.(3472-3474)aTa>aCa	p.I1158T	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.I217T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1158	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAAAAGTTATAGGTAAGAAT	0.403										HNSCC(39;0.1)																																							0													140	129	133					7																	147964216		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3473T>C	7.37:g.147964216T>C	ENSP00000354778:p.Ile1158Thr		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.I1158T	ENST00000361727.3	37	c.3473	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	T	16.94	3.259994	0.59321	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.77358	-1.09;-1.09	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.064020	0.64402	D	0.000004	T	0.59059	0.2166	N	0.12746	0.255	0.36169	D	0.848649	B	0.15930	0.015	B	0.15484	0.013	T	0.60078	-0.7333	10	0.12766	T	0.61	.	12.0609	0.53562	0.0:0.0:0.0:1.0	.	1158	Q9UHC6	CNTP2_HUMAN	T	1158;217	ENSP00000354778:I1158T;ENSP00000440732:I217T	ENSP00000354778:I1158T	I	+	2	0	CNTNAP2	147595149	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.236000	0.58675	2.108000	0.64289	0.533000	0.62120	ATA	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	T			147964216	1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	1.000	C	C	147964216	T	C	147964216	3	2	175	1	0	0	0	0	1	0	0	0	3652	1406	49	5	3555	5	CNTNAP2	7	147964216	Missense_Mutation	SNP	T	TCGA-MU-A5YI-01A-11D-A32I-09	6008810	147964216	11174447	58	33038										
SSPO	23145	genome.wustl.edu	37	chr7	149493752	149493752	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gtggtgagtgtgtcctgagaGggggcccttgtgacggtgtt	19	6	0	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:149493752G>T	ENST00000378016.2	+	0	6748							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTCCTGAGAGGGGGCCCTTG	0.652																																																	0													115	117	116					7																	149493752		2134	4239	6373			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493752G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.652	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149493752	1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	0.030	T	T	149493752	G	T	149493752	1	4	175	0	1	0	0	0	0	0	0	0	15219	1000	35	4		4	SSPO	7	149493752	RNA	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	1529536	149493752	9644911	59	33039										
CSMD1	64478	genome.wustl.edu	37	chr8	3063032	3063032	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aaggacatccttaccgaattCctttggtaccgtgatggaat	9	9	0	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:3063032C>A	ENST00000520002.1	-	32	5536	c.4981G>T	c.(4981-4983)Gaa>Taa	p.E1661*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.E1660*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.E1660*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.E1661*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.E1660*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.E1661*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.E1661*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1661	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTACCGAATTCCTTTGGTACC	0.383																																																	0													69	66	67					8																	3063032		1844	4092	5936	SO:0001587	stop_gained	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4981G>T	8.37:g.3063032C>A	ENSP00000430733:p.Glu1661*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E1661*	ENST00000520002.1	37	c.4981		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.571990|12.571990	0.99679|0.99679	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.071868|.	0.56097|.	D|.	0.000031|.	.|T	.|0.76083	.|0.3938	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74734	.|-0.3565	.|3	0.41790|.	T|.	0.15|.	.|.	19.2736|19.2736	0.94021|0.94021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	1661;1661;1523;1660;1660;1660|1140	.|.	ENSP00000320445:E1523X|.	E|G	-|-	1|2	0|0	CSMD1|CSMD1	3050439|3050439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.481000|0.481000	0.33189|0.33189	3.932000|3.932000	0.56537|0.56537	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	GAA|GGA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3063032	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	3063032	C	A	3063032	4	1	175	1	0	0	0	0	0	1	0	0	3949	864	30	3	5876	3	CSMD1	8	3063032	Nonsense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		3063032	143300990	60	33040										
ADAM7	8756	genome.wustl.edu	37	chr8	24342818	24342818	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ggctctactcacatgtgcaaGgaatttcttatccagggggt	11	9	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:24342818G>T	ENST00000175238.6	+	10	987	c.904G>T	c.(904-906)Gga>Tga	p.G302*	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.G302*|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.G74*|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	302	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		G -> E (in a cutaneous metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:21618342}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACATGTGCAAGGAATTTCTTA	0.343																																																	0													153	147	149					8																	24342818		2203	4300	6503	SO:0001587	stop_gained	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.904G>T	8.37:g.24342818G>T	ENSP00000175238:p.Gly302*		A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G302*	ENST00000175238.6	37	c.904	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.451094	0.96205	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	5.44	5.44	0.79542	.	0.000000	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8368	0.70190	0.0:0.0:1.0:0.0	.	.	.	.	X	302;302;74;117	.	ENSP00000175238:G302X	G	+	1	0	ADAM7	24398708	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	4.449000	0.60034	2.569000	0.86673	0.644000	0.83932	GGA	ADAM7	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.343	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	G	NM_003817		24342818	1	no_errors	ENST00000175238	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	24342818	G	T	24342818	4	4	175	1	0	0	0	0	0	1	0	0	251	1001	35	4	942	4	ADAM7	8	24342818	Nonsense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	21279786	24342818	122021204	61	33041										
C8orf80	389643	genome.wustl.edu	37	chr8	27887920	27887920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gatgtggtcctccaggccccCgaggatggcacttatctggg	14	12	1	0	rs371363580		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:27887920C>A	ENST00000413272.2	-	16	2066	c.1924G>T	c.(1924-1926)Ggg>Tgg	p.G642W	NUGGC_ENST00000341513.6_Missense_Mutation_p.G642W	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	642					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCCAGGCCCCCGAGGATGGCA	0.562																																																	0													32	35	34					8																	27887920		1969	4143	6112	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1924G>T	8.37:g.27887920C>A	ENSP00000408697:p.Gly642Trp		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.G642W	ENST00000413272.2	37	c.1924	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367539	0.42003	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.15372	2.43;2.43	5.0	5.0	0.66597	.	0.431444	0.23874	N	0.043705	T	0.21103	0.0508	L	0.29908	0.895	0.36537	D	0.871055	D	0.57257	0.979	P	0.51229	0.663	T	0.07616	-1.0763	10	0.72032	D	0.01	-9.3661	14.2283	0.65875	0.0:1.0:0.0:0.0	.	642	Q68CJ6	SLIP_HUMAN	W	642	ENSP00000408697:G642W;ENSP00000345031:G642W	ENSP00000345031:G642W	G	-	1	0	C8orf80	27943839	0.966000	0.33281	1.000000	0.80357	0.092000	0.18411	2.574000	0.46016	2.479000	0.83701	0.558000	0.71614	GGG	NUGGC	-	NULL		0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27887920	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27887920	C	A	27887920	3	1	175	1	0	0	0	0	1	0	0	0	2444	652	23	2	482	2	C8orf80	8	27887920	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	3545102	27887920	118476102	62	33042										
RB1CC1	9821	genome.wustl.edu	37	chr8	53570460	53570460	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gactgtggggatgtctgactCacagatgcctggaaaacaga	13	8	2	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:53570460C>G	ENST00000025008.5	-	15	2452	c.1929G>C	c.(1927-1929)gtG>gtC	p.V643V	RB1CC1_ENST00000435644.2_Silent_p.V643V|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.V643V	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	643					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATGTCTGACTCACAGATGCCT	0.428																																					GBM(180;1701 2102 13475 42023 52570)												0													65	66	66					8																	53570460		2203	4300	6503	SO:0001819	synonymous_variant	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1929G>C	8.37:g.53570460C>G			Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.V643	ENST00000025008.5	37	c.1929	CCDS34892.1	8																																																																																			RB1CC1	-	NULL		0.428	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	C	NM_014781		53570460	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	silent	SNP	0.005	G	G	53570460	C	G	53570460	2	3	175	1	0	0	0	0	0	0	0	1	13129	813	29	1		1	RB1CC1	8	53570460	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	25682540	53570460	92793562	63	33043										
NSMAF	8439	genome.wustl.edu	37	chr8	59511903	59511903	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tccaatgcatctttgctcttCtggagaaagtcctcgggacc	9	12	3	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:59511903C>A	ENST00000038176.3	-	19	1685	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	NSMAF_ENST00000427130.2_Missense_Mutation_p.Q522H|NSMAF_ENST00000519858.1_5'Flank	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	491	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTTTGCTCTTCTGGAGAAAGT	0.373																																																	0													132	132	132					8																	59511903		2203	4300	6503	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1473G>T	8.37:g.59511903C>A	ENSP00000038176:p.Gln491His		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q522H	ENST00000038176.3	37	c.1566	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048501	0.75846	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.80393	-1.37;-1.37	6.17	6.17	0.99709	BEACH domain (4);	0.222975	0.47455	D	0.000230	D	0.83087	0.5178	L	0.35793	1.09	0.44995	D	0.998013	P;P	0.47604	0.898;0.703	P;P	0.53861	0.736;0.663	T	0.79137	-0.1927	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	522;491	Q92636-2;Q92636	.;FAN_HUMAN	H	491;522	ENSP00000038176:Q491H;ENSP00000411012:Q522H	.	Q	-	3	2	NSMAF	59674457	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.215000	0.51169	2.941000	0.99782	0.655000	0.94253	CAG	NSMAF	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.373	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	C	NM_003580		59511903	-1	no_errors	ENST00000427130	ensembl	human	known	70_37	missense	SNP	1.000	A	A	59511903	C	A	59511903	3	1	175	1	0	0	0	0	1	0	0	0	10698	912	32	3	1332	3	NSMAF	8	59511903	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	5941443	59511903	86852119	64	33044										
CSMD3	114788	genome.wustl.edu	37	chr8	113812431	113812431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ccaacagatccaacactttcGtccgtttgaaggtgcagcca	8	13	0	2	rs530785795	byFrequency	TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:113812431G>A	ENST00000297405.5	-	13	2176	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D	CSMD3_ENST00000343508.3_Silent_p.D604D|CSMD3_ENST00000455883.2_Silent_p.D540D|CSMD3_ENST00000352409.3_Silent_p.D644D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	644	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAACACTTTCGTCCGTTTGAA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	23	0.00459265	0	0	5008	,	,		16218	0		0	False		,,,				2504	0.0235																0													145	128	133					8																	113812431		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1932C>T	8.37:g.113812431G>A			Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D644	ENST00000297405.5	37	c.1932	CCDS6315.1	8																																																																																			CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113812431	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	silent	SNP	1.000	A	A	113812431	G	A	113812431	2	1	175	1	0	0	0	0	0	0	0	1	3951	1136	40	2		2	CSMD3	8	113812431	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	54300528	113812431	32551591	65	33045										
PTPRD	5789	genome.wustl.edu	37	chr9	8504366	8504366	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gctgtttggtttcagtccttGcagcctatatgatgtccctg	10	10	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:8504366G>T	ENST00000381196.4	-	20	2260	c.1717C>A	c.(1717-1719)Caa>Aaa	p.Q573K	PTPRD_ENST00000356435.5_Missense_Mutation_p.Q573K|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q563K|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q570K|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q570K|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q560K|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q560K|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q573K|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q573K|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q563K|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q573K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	573	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCAGTCCTTGCAGCCTATAT	0.438										TSP Lung(15;0.13)																																							0													291	246	261					9																	8504366		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1717C>A	9.37:g.8504366G>T	ENSP00000370593:p.Gln573Lys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.Q573K	ENST00000381196.4	37	c.1717	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243333	0.22796	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.53	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108237	0.64402	D	0.000006	T	0.21841	0.0526	N	0.00648	-1.295	0.47737	D	0.999502	B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B	0.14578	0.006;0.006;0.006;0.006;0.01;0.003;0.011;0.006;0.011	T	0.20605	-1.0270	9	.	.	.	.	16.4574	0.84022	0.0:0.1307:0.8693:0.0	.	563;567;573;573;570;570;560;573;573	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	573;573;560;560;573;563;570;570;573;573;573;563	ENSP00000370593:Q573K;ENSP00000348812:Q573K;ENSP00000353187:Q560K;ENSP00000351293:Q560K;ENSP00000347373:Q573K;ENSP00000380741:Q563K;ENSP00000380735:Q570K;ENSP00000440515:Q570K;ENSP00000438164:Q573K;ENSP00000417093:Q573K;ENSP00000380731:Q563K	.	Q	-	1	0	PTPRD	8494366	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.811000	0.62606	2.602000	0.87976	0.467000	0.42956	CAA	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	G			8504366	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8504366	G	T	8504366	3	4	175	1	0	0	0	0	1	0	0	0	12829	1328	46	4	4185	4	PTPRD	9	8504366	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		8504366	132709065	66	33046										
DENND4C	55667	genome.wustl.edu	37	chr9	19360377	19360377	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atacatcttctttcatcaatCaacatccaatcattttctgg	2	11	7	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:19360377C>A	ENST00000380432.2	+	24	4474	c.4441C>A	c.(4441-4443)Caa>Aaa	p.Q1481K	DENND4C_ENST00000602925.1_Missense_Mutation_p.Q1717K|DENND4C_ENST00000434457.2_Missense_Mutation_p.Q1766K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1481					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTCATCAATCAACATCCAAT	0.393																																																	0													177	163	168					9																	19360377		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4441C>A	9.37:g.19360377C>A	ENSP00000369797:p.Gln1481Lys		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Q1481K	ENST00000380432.2	37	c.4441		9	.	.	.	.	.	.	.	.	.	.	C	35	5.425638	0.96131	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.24151	1.87;1.87	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.77103	2.36	0.80722	D	1	D;D;D	0.71674	0.997;0.995;0.998	D;D;D	0.75484	0.96;0.946;0.986	T	0.51585	-0.8687	9	.	.	.	-13.9673	20.2576	0.98430	0.0:1.0:0.0:0.0	.	811;663;1481	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	K	1481;954;663;811;954;663;478	ENSP00000305795:Q954K;ENSP00000443804:Q811K	.	Q	+	1	0	DENND4C	19350377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.055000	0.71103	2.783000	0.95769	0.655000	0.94253	CAA	DENND4C	-	NULL		0.393	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		C	NM_017925		19360377	1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	A	A	19360377	C	A	19360377	3	1	175	1	0	0	0	0	1	0	0	0	4445	827	29	3	4535	3	DENND4C	9	19360377	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	10856011	19360377	121853054	67	33047										
SPTAN1	6709	genome.wustl.edu	37	chr9	131395181	131395181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aggagattgagagcgccttcCgggccctcagctcagaggga	15	11	2	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:131395181C>T	ENST00000372731.4	+	55	7350	c.7240C>T	c.(7240-7242)Cgg>Tgg	p.R2414W	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2419W|WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2419W	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2414	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGCGCCTTCCGGGCCCTCAG	0.537																																					NSCLC(120;833 1744 2558 35612 37579)												0													96	101	99					9																	131395181		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7240C>T	9.37:g.131395181C>T	ENSP00000361816:p.Arg2414Trp		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R2419W	ENST00000372731.4	37	c.7255	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.445596	0.96187	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55930	0.49;0.49;0.49	5.69	5.69	0.88448	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78817	0.4343	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.967	D;P;P	0.97110	1.0;0.738;0.717	T	0.82184	-0.0583	10	0.87932	D	0	.	19.8052	0.96529	0.0:1.0:0.0:0.0	.	2394;2419;2414	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	W	2419;2414;2419;2394	ENSP00000350882:R2419W;ENSP00000361816:R2414W;ENSP00000361824:R2419W	ENSP00000350882:R2419W	R	+	1	2	SPTAN1	130435002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.293000	0.78740	2.688000	0.91661	0.561000	0.74099	CGG	SPTAN1	-	pfam_EF-hand_Ca_insen		0.537	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131395181	1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131395181	C	T	131395181	3	4	175	1	0	0	0	0	1	0	0	0	15147	643	23	2	7473	2	SPTAN1	9	131395181	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	112034804	131395181	9818250	68	33048										
ABL1	25	genome.wustl.edu	37	chr9	133760730	133760730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tcttcggaaaacccgccagcCtccagagcggatcgccagcg	11	16	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:133760730C>A	ENST00000318560.5	+	11	3434	c.3053C>A	c.(3052-3054)cCt>cAt	p.P1018H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1018	F-actin-binding.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	ACCCGCCAGCCTCCAGAGCGG	0.642			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													54	63	60					9																	133760730		2203	4297	6500	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3053C>A	9.37:g.133760730C>A	ENSP00000323315:p.Pro1018His		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.P1037H	ENST00000318560.5	37	c.3110	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083923	0.55861	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.74002	-0.79;-0.8	5.26	4.29	0.51040	F-actin binding (2);	0.109437	0.64402	D	0.000005	T	0.79851	0.4517	L	0.48642	1.525	0.51767	D	0.999939	D;D	0.62365	0.991;0.991	D;D	0.64506	0.926;0.926	T	0.80783	-0.1228	10	0.87932	D	0	.	11.48	0.50320	0.0:0.9027:0.0:0.0973	.	1018;1055	P00519;Q59FK4	ABL1_HUMAN;.	H	833;1037;1018	ENSP00000361423:P1037H;ENSP00000323315:P1018H	ENSP00000323315:P1018H	P	+	2	0	ABL1	132750551	0.995000	0.38212	0.993000	0.49108	0.578000	0.36192	3.142000	0.50601	1.063000	0.40649	0.555000	0.69702	CCT	ABL1	-	pfam_F-actin_binding,smart_F-actin_binding		0.642	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133760730	1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	A	A	133760730	C	A	133760730	3	1	175	1	0	0	0	0	1	0	0	0	92	681	24	4	3235	4	ABL1	9	133760730	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	2365549	133760730	7452701	69	33049										
BRD3	8019	genome.wustl.edu	37	chr9	136901377	136901377	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cgcttttcatcgtagctcatGggcaggccctcctcctcttc	8	16	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:136901377G>T	ENST00000303407.7	-	10	1898	c.1713C>A	c.(1711-1713)ccC>ccA	p.P571P	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	571	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGTAGCTCATGGGCAGGCCCT	0.607			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													75	69	72					9																	136901377		2203	4300	6503	SO:0001819	synonymous_variant	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1713C>A	9.37:g.136901377G>T			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P571	ENST00000303407.7	37	c.1713	CCDS6980.1	9																																																																																			BRD3	-	NULL		0.607	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	G	NM_007371		136901377	-1	no_errors	ENST00000303407	ensembl	human	known	70_37	silent	SNP	0.996	T	T	136901377	G	T	136901377	2	4	175	1	0	0	0	0	0	0	0	1	1506	1335	47	4		4	BRD3	9	136901377	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	3140647	136901377	4312054	70	33050										
NOTCH1	4851	genome.wustl.edu	37	chr9	139412245	139412245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	actccccaatctggtccaggCaggtggcgtcgttctggcac	12	14	2	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:139412245C>T	ENST00000277541.6	-	8	1475	c.1400G>A	c.(1399-1401)tGc>tAc	p.C467Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	467	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGTCCAGGCAGGTGGCGTC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													57	64	62					9																	139412245		2146	4233	6379	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1400G>A	9.37:g.139412245C>T	ENSP00000277541:p.Cys467Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C467Y	ENST00000277541.6	37	c.1400	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288600	0.80914	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99935	4.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96191	0.9138	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	467	P46531	NOTC1_HUMAN	Y	467	ENSP00000277541:C467Y	ENSP00000277541:C467Y	C	-	2	0	NOTCH1	138532066	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.258000	0.78371	2.088000	0.63022	0.462000	0.41574	TGC	NOTCH1	-	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139412245	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139412245	C	T	139412245	3	4	175	1	0	0	0	0	1	0	0	0	10571	710	25	4	6375	4	NOTCH1	9	139412245	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	2510868	139412245	1801186	71	33051										
KIAA1462	57608	genome.wustl.edu	37	chr10	30317689	30317689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gctgcattcctccatgagccGgctcttgagcagtgacagga	12	12	1	3	rs140538119	byFrequency	TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr10:30317689G>T	ENST00000375377.1	-	3	1489	c.1388C>A	c.(1387-1389)cCg>cAg	p.P463Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	463					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCATGAGCCGGCTCTTGAGC	0.512																																																	0													70	73	72					10																	30317689		1885	4118	6003	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1388C>A	10.37:g.30317689G>T	ENSP00000364526:p.Pro463Gln		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.P463Q	ENST00000375377.1	37	c.1388	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	G	15.95	2.985098	0.53934	.	.	ENSG00000165757	ENST00000375377	T	0.18657	2.2	5.42	4.5	0.54988	.	0.385114	0.26237	N	0.025527	T	0.33352	0.0860	L	0.52364	1.645	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.19031	-1.0318	10	0.59425	D	0.04	-15.9201	4.4339	0.11542	0.0785:0.1362:0.5495:0.2358	.	463	Q9P266	K1462_HUMAN	Q	463	ENSP00000364526:P463Q	ENSP00000364526:P463Q	P	-	2	0	KIAA1462	30357695	0.012000	0.17670	0.184000	0.23157	0.140000	0.21249	0.863000	0.27913	2.545000	0.85829	0.561000	0.74099	CCG	KIAA1462	-	NULL		0.512	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	G	NM_020848		30317689	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.016	T	T	30317689	G	T	30317689	3	4	175	1	0	0	0	0	1	0	0	0	8254	1116	39	2	2699	2	KIAA1462	10	30317689	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		30317689	105217058	72	33052										
DDX21	9188	genome.wustl.edu	37	chr10	70738628	70738628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ccatgatcttgcagtgctcaAttgaaatgccaaatattagt	7	8	2	2	rs201054642		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr10:70738628A>G	ENST00000354185.4	+	13	2031	c.1933A>G	c.(1933-1935)Att>Gtt	p.I645V		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	645					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCAGTGCTCAATTGAAATGCC	0.353																																																	0								A	VAL/ILE	0,4406		0,0,2203	103	105	104		1933	-1	0.8	10		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX21	NM_004728.2	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	645/784	70738628	1,13005	2203	4300	6503	SO:0001583	missense	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1933A>G	10.37:g.70738628A>G	ENSP00000346120:p.Ile645Val		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I645V	ENST00000354185.4	37	c.1933	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	A	2.101	-0.405961	0.04832	0.0	1.16E-4	ENSG00000165732	ENST00000354185	T	0.15603	2.41	5.26	-1.02	0.10135	GUCT (1);	0.408050	0.27284	N	0.020061	T	0.05547	0.0146	N	0.02011	-0.69	0.19945	N	0.99994	B	0.02656	0.0	B	0.06405	0.002	T	0.38520	-0.9657	10	0.25106	T	0.35	-17.4638	11.3398	0.49527	0.5088:0.0:0.4912:0.0	.	645	Q9NR30	DDX21_HUMAN	V	645	ENSP00000346120:I645V	ENSP00000346120:I645V	I	+	1	0	DDX21	70408634	0.224000	0.23674	0.778000	0.31720	0.447000	0.32167	0.708000	0.25719	-0.069000	0.12931	-0.899000	0.02877	ATT	DDX21	-	pfam_GUCT		0.353	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	A	NM_004728		70738628	1	no_errors	ENST00000354185	ensembl	human	known	70_37	missense	SNP	0.173	G	G	70738628	A	G	70738628	3	3	175	1	0	0	0	0	1	0	0	0	4354	101	4	5	1983	5	DDX21	10	70738628	Missense_Mutation	SNP	A	TCGA-MU-A5YI-01A-11D-A32I-09	40420939	70738628	64796119	73	33053										
LDB3	11155	genome.wustl.edu	37	chr10	88439877	88439877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	catctccacgacagcacctcCagtccagacccctctgccgg	7	20	2	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr10:88439877C>A	ENST00000361373.4	+	3	305	c.284C>A	c.(283-285)cCa>cAa	p.P95Q	LDB3_ENST00000372066.3_Missense_Mutation_p.P95Q|LDB3_ENST00000542786.1_Missense_Mutation_p.P95Q|LDB3_ENST00000429277.2_Missense_Mutation_p.P95Q|LDB3_ENST00000263066.6_Missense_Mutation_p.P95Q|LDB3_ENST00000458213.2_Missense_Mutation_p.P95Q|LDB3_ENST00000372056.4_Missense_Mutation_p.P95Q|LDB3_ENST00000352360.5_Missense_Mutation_p.P95Q|LDB3_ENST00000310944.6_Missense_Mutation_p.P95Q	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ACAGCACCTCCAGTCCAGACC	0.617																																																	0													109	96	100					10																	88439877		2203	4300	6503	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.284C>A	10.37:g.88439877C>A	ENSP00000355296:p.Pro95Gln			Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P95Q	ENST00000361373.4	37	c.284	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	c	13.59	2.281460	0.40394	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T;T;T;T;T	0.54279	0.8;0.72;0.58;1.13;0.72;0.97;1.11;0.58;1.07	5.31	2.16	0.27623	PDZ/DHR/GLGF (1);	0.275476	0.19620	U	0.109935	T	0.49389	0.1554	L	0.59436	1.845	0.19945	N	0.999946	B;B;B;B;B;P;P	0.39940	0.01;0.162;0.042;0.031;0.001;0.696;0.552	B;B;B;B;B;B;B	0.43990	0.004;0.098;0.052;0.006;0.005;0.438;0.142	T	0.37291	-0.9712	10	0.44086	T	0.13	.	7.007	0.24842	0.3494:0.3015:0.349:0.0	.	95;95;95;95;95;95;95	B4E3K3;F5H0C2;O75112-4;O75112;O75112-2;O75112-5;O75112-6	.;.;.;LDB3_HUMAN;.;.;.	Q	95	ENSP00000401437:P95Q;ENSP00000409148:P95Q;ENSP00000263067:P95Q;ENSP00000361136:P95Q;ENSP00000263066:P95Q;ENSP00000361126:P95Q;ENSP00000311913:P95Q;ENSP00000355296:P95Q;ENSP00000438866:P95Q	ENSP00000263066:P95Q	P	+	2	0	LDB3	88429857	0.524000	0.26282	0.065000	0.19835	0.915000	0.54546	1.784000	0.38674	0.551000	0.29008	0.651000	0.88453	CCA	LDB3	-	superfamily_PDZ		0.617	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	C			88439877	1	no_errors	ENST00000429277	ensembl	human	known	70_37	missense	SNP	0.394	A	A	88439877	C	A	88439877	3	1	175	1	0	0	0	0	1	0	0	0	8717	594	21	4	294	4	LDB3	10	88439877	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	17701249	88439877	47094870	74	33054										
SCUBE2	57758	genome.wustl.edu	37	chr11	9074758	9074758	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cttgtgggcaggagccccttCacttctagacaggacaaaac	10	12	2	1	rs535859288		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:9074758C>T	ENST00000309263.3	-	12	1407	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.V445V|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000457346.2_Silent_p.V445V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	445						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGAGCCCCTTCACTTCTAGAC	0.527													C|||	1	0.000199681	0	0.0014	5008	,	,		20118	0		0	False		,,,				2504	0																0													72	60	64					11																	9074758		2201	4296	6497	SO:0001819	synonymous_variant	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1335G>A	11.37:g.9074758C>T			Q2NKQ8|Q6ZWI1	Silent	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.V445	ENST00000309263.3	37	c.1335		11																																																																																			SCUBE2	-	NULL		0.527	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	C	NM_020974		9074758	-1	no_errors	ENST00000457346	ensembl	human	known	70_37	silent	SNP	0.960	T	T	9074758	C	T	9074758	2	4	175	1	0	0	0	0	0	0	0	1	13975	813	29	1		1	SCUBE2	11	9074758	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		9074758	125931758	75	33055										
E2F8	79733	genome.wustl.edu	37	chr11	19251245	19251245	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cttttgagccagtagctttaGaagagtgggtggtgcacacc	13	8	0	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:19251245G>A	ENST00000527884.1	-	10	1881	c.1649C>T	c.(1648-1650)tCt>tTt	p.S550F	E2F8_ENST00000250024.4_Missense_Mutation_p.S550F|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	550					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTAGCTTTAGAAGAGTGGGT	0.572																																																	0													117	112	114					11																	19251245		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1649C>T	11.37:g.19251245G>A	ENSP00000434199:p.Ser550Phe		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.S550F	ENST00000527884.1	37	c.1649	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	G	9.537	1.112243	0.20795	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.18960	2.18;2.18	5.63	4.7	0.59300	.	0.546673	0.21447	N	0.074392	T	0.28764	0.0713	M	0.63428	1.95	0.33785	D	0.624765	B	0.26876	0.162	B	0.33890	0.172	T	0.42430	-0.9452	10	0.72032	D	0.01	-9.4881	14.4725	0.67526	0.0:0.1469:0.8531:0.0	.	550	A0AVK6	E2F8_HUMAN	F	550	ENSP00000434199:S550F;ENSP00000250024:S550F	ENSP00000250024:S550F	S	-	2	0	E2F8	19207821	1.000000	0.71417	0.626000	0.29213	0.233000	0.25261	1.609000	0.36858	1.348000	0.45733	0.655000	0.94253	TCT	E2F8	-	NULL		0.572	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	G	NM_024680		19251245	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	0.877	A	A	19251245	G	A	19251245	3	1	175	1	0	0	0	0	1	0	0	0	4883	942	33	1	970	1	E2F8	11	19251245	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	10176487	19251245	115755271	76	33056										
OR4D10	390197	genome.wustl.edu	37	chr11	59245699	59245699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ccggcccttcactgccctccCcatggataaggccatctctg	8	18	2	0	rs571309353		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:59245699C>A	ENST00000530162.1	+	1	854	c.797C>A	c.(796-798)cCc>cAc	p.P266H		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTGCCCTCCCCATGGATAAG	0.552																																																	0													190	169	176					11																	59245699		2201	4295	6496	SO:0001583	missense	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.797C>A	11.37:g.59245699C>A	ENSP00000436424:p.Pro266His		B2RNH6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P266H	ENST00000530162.1	37	c.797	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	C	13.28	2.188672	0.38609	.	.	ENSG00000254466	ENST00000530162	T	0.00069	8.77	4.7	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	L	0.55990	1.75	0.23776	N	0.996879	D	0.89917	1.0	D	0.85130	0.997	T	0.53422	-0.8441	9	0.87932	D	0	.	7.1973	0.25860	0.1679:0.7429:0.0:0.0892	.	266	Q8NGI6	OR4DA_HUMAN	H	266	ENSP00000436424:P266H	ENSP00000436424:P266H	P	+	2	0	OR4D10	59002275	0.000000	0.05858	0.966000	0.40874	0.482000	0.33219	0.038000	0.13862	1.090000	0.41315	0.650000	0.86243	CCC	OR4D10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	C	NM_001004705		59245699	1	no_errors	ENST00000530162	ensembl	human	known	70_37	missense	SNP	0.715	A	A	59245699	C	A	59245699	3	1	175	1	0	0	0	0	1	0	0	0	11078	623	22	4	799	4	OR4D10	11	59245699	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	39994454	59245699	75760817	77	33057										
C11orf48	79081	genome.wustl.edu	37	chr11	62430806	62430806	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tgttggcacgtgcactggacCtgatgggtaagtggaaataa	14	6	0	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:62430806C>A	ENST00000431002.2	-	4	2475		c.e4-1		C11orf48_ENST00000354588.3_Splice_Site|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000524958.1_Splice_Site|C11orf48_ENST00000532208.1_Splice_Site|RP11-831H9.11_ENST00000528405.1_Splice_Site|METTL12_ENST00000532971.1_5'Flank|C11orf48_ENST00000525675.1_Splice_Site			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48											endometrium(1)|lung(5)|urinary_tract(1)	7						TGCACTGGACCTGATGGGTAA	0.478																																																	0													96	83	88					11																	62430806		2202	4299	6501	SO:0001630	splice_region_variant	79081			BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.742-1G>T	11.37:g.62430806C>A			Q96NA4	Splice_Site	SNP	-	e4-1	ENST00000431002.2	37	c.742-1		11	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650426	0.29336	.	.	ENSG00000255432;ENSG00000162194;ENSG00000162194;ENSG00000162194;ENSG00000162194;ENSG00000162194	ENST00000528405;ENST00000524958;ENST00000354588;ENST00000431002;ENST00000532208;ENST00000525675	.	.	.	3.58	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4846	0.61357	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C11orf48;RP11-831H9.11	62187382	1.000000	0.71417	0.994000	0.49952	0.331000	0.28603	3.228000	0.51270	2.309000	0.77851	0.462000	0.41574	.	C11orf48	-	-		0.478	C11orf48-004	KNOWN	basic	protein_coding	C11orf48	HGNC	protein_coding	OTTHUMT00000395233.1	C	NM_024099	Intron	62430806	-1	no_errors	ENST00000431002	ensembl	human	known	70_37	splice_site	SNP	0.997	A	A	62430806	C	A	62430806	5	1	175	1	0	0	0	0	0	0	1	0	1648	695	24	4	136	4	C11orf48	11	62430806	Splice_Site	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	3185107	62430806	72575710	78	33058										
CLPB	81570	genome.wustl.edu	37	chr11	72006666	72006666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gcgtccttgcaatcaatggtCttcccttttccatctgtcag	7	13	4	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:72006666C>G	ENST00000294053.3	-	13	1619	c.1446G>C	c.(1444-1446)aaG>aaC	p.K482N	CLPB_ENST00000437826.2_Missense_Mutation_p.K437N|CLPB_ENST00000538039.1_Missense_Mutation_p.K452N|CLPB_ENST00000538021.1_Missense_Mutation_p.K90N|CLPB_ENST00000543042.1_Missense_Mutation_p.K281N|CLPB_ENST00000340729.5_Missense_Mutation_p.K423N	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	482					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						AATCAATGGTCTTCCCTTTTC	0.567																																																	0													134	85	101					11																	72006666		2200	4293	6493	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1446G>C	11.37:g.72006666C>G	ENSP00000294053:p.Lys482Asn		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B	p.K482N	ENST00000294053.3	37	c.1446	CCDS8215.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.96|18.96	3.734469|3.734469	0.69189|0.69189	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021|ENST00000544382	T;T;T;T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92;0.92;0.92;0.92|.	5.15|5.15	3.29|3.29	0.37713|0.37713	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56746|0.56746	0.2006|0.2006	L|L	0.46947|0.46947	1.48|1.48	0.50171|0.50171	D|D	0.999854|0.999854	P;P;P;P;D;P|.	0.76494|.	0.799;0.928;0.943;0.929;0.999;0.818|.	P;P;P;P;D;B|.	0.74674|.	0.575;0.547;0.775;0.614;0.984;0.445|.	T|T	0.49624|0.49624	-0.8920|-0.8920	10|5	0.87932|.	D|.	0|.	-21.4998|-21.4998	10.307|10.307	0.43687|0.43687	0.0:0.8394:0.0:0.1606|0.0:0.8394:0.0:0.1606	.|.	281;423;437;452;482;90|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777|.	.;.;.;.;CLPB_HUMAN;.|.	N|T	482;452;487;423;437;281;90|260	ENSP00000294053:K482N;ENSP00000441518:K452N;ENSP00000443822:K487N;ENSP00000340385:K423N;ENSP00000407296:K437N;ENSP00000439746:K281N;ENSP00000445180:K90N|.	ENSP00000294053:K482N|.	K|R	-|-	3|2	2|0	CLPB|CLPB	71684314|71684314	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.720000|0.720000	0.25896|0.25896	0.585000|0.585000	0.29608|0.29608	0.561000|0.561000	0.74099|0.74099	AAG|AGA	CLPB	-	pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Sigma_54_int,smart_AAA+_ATPase		0.567	CLPB-001	KNOWN	basic|CCDS	protein_coding	CLPB	HGNC	protein_coding	OTTHUMT00000396889.1	C	NM_030813		72006666	-1	no_errors	ENST00000294053	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72006666	C	G	72006666	3	3	175	1	0	0	0	0	1	0	0	0	3556	912	32	1	697	1	CLPB	11	72006666	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	9575860	72006666	62999850	79	33059										
ODZ4	26011	genome.wustl.edu	37	chr11	78369502	78369502	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ccattctccagggttcgccgCcccccactgaggcccaggat	10	18	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:78369502C>A	ENST00000278550.7	-	34	8373	c.7911G>T	c.(7909-7911)ggG>ggT	p.G2637G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2637					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGGTTCGCCGCCCCCCACTGA	0.542																																																	0													58	62	61					11																	78369502		2073	4216	6289	SO:0001819	synonymous_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7911G>T	11.37:g.78369502C>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G2637	ENST00000278550.7	37	c.7911	CCDS44688.1	11																																																																																			TENM4	-	NULL		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78369502	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	silent	SNP	0.998	A	A	78369502	C	A	78369502	2	1	175	1	0	0	0	0	0	0	0	1	10861	726	26	4		4	ODZ4	11	78369502	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	6362836	78369502	56637014	80	33060										
ACAD8	27034	genome.wustl.edu	37	chr11	134128484	134128484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tgcccaccgctctgtaccatGgagaagtttgcttcctactg	9	13	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:134128484G>T	ENST00000281182.4	+	4	562	c.456G>T	c.(454-456)atG>atT	p.M152I	ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Missense_Mutation_p.M75I|ACAD8_ENST00000543332.1_Missense_Mutation_p.M54I|ACAD8_ENST00000524547.1_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	152			M -> T (in IBDD). {ECO:0000269|PubMed:16857760}.		branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	TCTGTACCATGGAGAAGTTTG	0.483																																					GBM(65;238 1125 33403 41853 48889)												0													129	90	103					11																	134128484		2201	4297	6498	SO:0001583	missense	27034			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.456G>T	11.37:g.134128484G>T	ENSP00000281182:p.Met152Ile		B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.M152I	ENST00000281182.4	37	c.456	CCDS8498.1	11	.	.	.	.	.	.	.	.	.	.	G	30	5.052737	0.93793	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000537915	D;D;D	0.99701	-6.45;-6.45;-5.18	5.56	5.56	0.83823	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	M	0.87547	2.89	0.80722	D	1	P;P;P;P;P	0.50943	0.614;0.94;0.878;0.93;0.94	P;P;P;P;P	0.54140	0.54;0.674;0.457;0.687;0.743	D	0.98254	1.0495	10	0.66056	D	0.02	.	19.5044	0.95110	0.0:0.0:1.0:0.0	.	93;75;54;54;152	B7Z767;B7Z5W4;B7Z9L5;B7Z7F1;Q9UKU7	.;.;.;.;ACAD8_HUMAN	I	152;75;54;114	ENSP00000281182:M152I;ENSP00000443763:M75I;ENSP00000438302:M54I	ENSP00000281182:M152I	M	+	3	0	ACAD8	133633694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.702000	0.98712	2.605000	0.88082	0.655000	0.94253	ATG	ACAD8	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase		0.483	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD8	HGNC	protein_coding	OTTHUMT00000393607.1	G	NM_014384		134128484	1	no_errors	ENST00000281182	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134128484	G	T	134128484	3	4	175	1	0	0	0	0	1	0	0	0	110	1348	47	4	470	4	ACAD8	11	134128484	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	55758982	134128484	878032	81	33061										
SOX5	6660	genome.wustl.edu	37	chr12	23999045	23999045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	acaaggactcgccactctgtCgcccaccttcttctgccttc	6	18	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:23999045C>T	ENST00000451604.2	-	3	454	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	SOX5_ENST00000541536.1_Missense_Mutation_p.R105Q|SOX5_ENST00000381381.2_Missense_Mutation_p.R105Q|SOX5_ENST00000546136.1_Missense_Mutation_p.R105Q|SOX5_ENST00000541847.1_Missense_Mutation_p.R108Q|SOX5_ENST00000441133.2_Missense_Mutation_p.R83Q|SOX5_ENST00000545921.1_Missense_Mutation_p.R108Q|SOX5_ENST00000309359.1_Missense_Mutation_p.R105Q|SOX5_ENST00000537393.1_Missense_Mutation_p.R83Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	118					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCCACTCTGTCGCCCACCTTC	0.483																																																	0													127	114	119					12																	23999045		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.353G>A	12.37:g.23999045C>T	ENSP00000398273:p.Arg118Gln		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R118Q	ENST00000451604.2	37	c.353	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.113978	0.97296	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.98044	-4.63;-4.63;-4.62;-4.68;-4.32;-4.62;-4.63	5.79	5.79	0.91817	.	0.133554	0.51477	D	0.000086	D	0.98409	0.9471	L	0.60455	1.87	0.54753	D	0.999984	D;D;D;D	0.89917	0.998;0.999;0.997;1.0	D;D;D;D	0.87578	0.986;0.939;0.947;0.998	D	0.99056	1.0829	10	0.56958	D	0.05	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	83;83;105;118	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	Q	105;105;105;118;70;83;105;108;108;83;105	ENSP00000437487:R105Q;ENSP00000308927:R105Q;ENSP00000370788:R105Q;ENSP00000398273:R118Q;ENSP00000439832:R83Q;ENSP00000441973:R105Q;ENSP00000443520:R108Q	ENSP00000308927:R105Q	R	-	2	0	SOX5	23890312	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.474000	0.81024	2.744000	0.94065	0.650000	0.86243	CGA	SOX5	-	NULL		0.483	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	C	NM_006940		23999045	-1	no_errors	ENST00000451604	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23999045	C	T	23999045	3	4	175	1	0	0	0	0	1	0	0	0	14984	884	31	1	2000	1	SOX5	12	23999045	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		23999045	109852850	82	33062										
SCN8A	6334	genome.wustl.edu	37	chr12	52163093	52163093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	acacagaggatgttagcagcGagtcggatcctgaaggcagc	14	9	0	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:52163093G>A	ENST00000354534.6	+	17	3524	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1116K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1116					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGTTAGCAGCGAGTCGGATCC	0.522																																																	0													83	82	82					12																	52163093		2198	4295	6493	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3346G>A	12.37:g.52163093G>A	ENSP00000346534:p.Glu1116Lys		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E1116K	ENST00000354534.6	37	c.3346	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574436	0.65878	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.84223	-1.82;-1.82;-1.82	5.1	4.21	0.49690	Sodium ion transport-associated (1);	0.458961	0.25310	N	0.031586	D	0.82976	0.5154	M	0.64630	1.985	0.53688	D	0.999972	B;P	0.46220	0.293;0.874	B;B	0.40741	0.135;0.339	D	0.83703	0.0183	10	0.45353	T	0.12	.	13.9312	0.63996	0.0731:0.0:0.9269:0.0	.	1116;1116	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	K	1116;1116;1116;1029	ENSP00000346534:E1116K;ENSP00000440360:E1116K;ENSP00000347255:E1116K	ENSP00000346534:E1116K	E	+	1	0	SCN8A	50449360	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.851000	0.86920	1.536000	0.49237	0.643000	0.83706	GAG	SCN8A	-	pfam_Na_trans_assoc		0.522	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52163093	1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52163093	G	A	52163093	3	1	175	1	0	0	0	0	1	0	0	0	13954	1059	37	1	3408	1	SCN8A	12	52163093	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	28164048	52163093	81688802	83	33063										
KIAA0748	9840	genome.wustl.edu	37	chr12	55354986	55354986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ccagcaaaagtctggtggtgGtgggggtgcctgggtctgct	18	8	2	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:55354986G>T	ENST00000449076.1	-	10	1665	c.1533C>A	c.(1531-1533)caC>caA	p.H511Q	TESPA1_ENST00000524622.1_Missense_Mutation_p.H373Q|TESPA1_ENST00000316577.8_Missense_Mutation_p.H511Q|TESPA1_ENST00000531122.1_Missense_Mutation_p.H373Q|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Missense_Mutation_p.H373Q	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	511					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TCTGGTGGTGGTGGGGGTGCC	0.542																																																	0													149	177	168					12																	55354986		2193	4297	6490	SO:0001583	missense	9840			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1533C>A	12.37:g.55354986G>T	ENSP00000400892:p.His511Gln		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.H511Q	ENST00000449076.1	37	c.1533	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880388	0.33255	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.46063	0.88;0.88;0.9;0.9;0.88	4.15	2.29	0.28610	.	1.814120	0.02557	N	0.096323	T	0.33818	0.0876	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.23797	-1.0178	10	0.52906	T	0.07	0.0186	5.763	0.18211	0.106:0.1979:0.6962:0.0	.	511	A2RU30	K0748_HUMAN	Q	373;373;511;511;373	ENSP00000435622:H373Q;ENSP00000432030:H373Q;ENSP00000400892:H511Q;ENSP00000312679:H511Q;ENSP00000433098:H373Q	ENSP00000312679:H511Q	H	-	3	2	KIAA0748	53641253	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.628000	0.24522	0.700000	0.31782	0.650000	0.86243	CAC	TESPA1	-	NULL		0.542	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	G	NM_001098815		55354986	-1	no_errors	ENST00000316577	ensembl	human	known	70_37	missense	SNP	0.001	T	T	55354986	G	T	55354986	3	4	175	1	0	0	0	0	1	0	0	0	8210	1252	44	4	36	4	KIAA0748	12	55354986	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	3191893	55354986	78496909	84	33064										
OR9K2	441639	genome.wustl.edu	37	chr12	55523629	55523629	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ggtttctaccatgggtgacaGgggaacaagcaatcactcag	12	9	3	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:55523629G>T	ENST00000305377.5	+	1	165	c.77G>T	c.(76-78)aGg>aTg	p.R26M		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATGGGTGACAGGGGAACAAGC	0.423																																																	0													163	157	159					12																	55523629		2203	4300	6503	SO:0001583	missense	441639			BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.77G>T	12.37:g.55523629G>T	ENSP00000307598:p.Arg26Met		B9EH19|Q6IFD6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R26M	ENST00000305377.5	37	c.77	CCDS31814.1	12	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965807	0.34659	.	.	ENSG00000170605	ENST00000305377	T	0.00488	7.04	4.98	3.16	0.36331	.	0.641907	0.14582	N	0.310818	T	0.00210	0.0006	N	0.00661	-1.28	0.38104	D	0.937361	D	0.54601	0.967	P	0.54372	0.75	T	0.72887	-0.4156	10	0.02654	T	1	-2.6083	8.9402	0.35725	0.1732:0.0:0.8268:0.0	.	26	Q8NGE7	OR9K2_HUMAN	M	26	ENSP00000307598:R26M	ENSP00000307598:R26M	R	+	2	0	OR9K2	53809896	.	.	0.916000	0.36221	0.487000	0.33371	.	.	0.815000	0.34398	-0.145000	0.13849	AGG	OR9K2	-	NULL		0.423	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9K2	HGNC	protein_coding	OTTHUMT00000406105.1	G			55523629	1	no_errors	ENST00000305377	ensembl	human	known	70_37	missense	SNP	0.997	T	T	55523629	G	T	55523629	3	4	175	1	0	0	0	0	1	0	0	0	11278	1000	35	4	79	4	OR9K2	12	55523629	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	168643	55523629	78328266	85	33065										
NAV3	89795	genome.wustl.edu	37	chr12	78415569	78415569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	accgctttaccatcggctgaCtcctgtaccagtcctacaaa	6	15	0	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:78415569C>A	ENST00000397909.2	+	9	2123	c.1950C>A	c.(1948-1950)gaC>gaA	p.D650E	NAV3_ENST00000536525.2_Missense_Mutation_p.D650E|NAV3_ENST00000266692.7_Missense_Mutation_p.D650E|NAV3_ENST00000228327.6_Missense_Mutation_p.D650E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	650						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATCGGCTGACTCCTGTACCA	0.418										HNSCC(70;0.22)																																							0													112	113	113					12																	78415569		2027	4204	6231	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1950C>A	12.37:g.78415569C>A	ENSP00000381007:p.Asp650Glu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.D650E	ENST00000397909.2	37	c.1950		12	.	.	.	.	.	.	.	.	.	.	C	4.975	0.181121	0.09443	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.46	1.06	0.20224	.	0.174935	0.26345	U	0.024914	T	0.06096	0.0158	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.002;0.004	T	0.36939	-0.9727	10	0.02654	T	1	-8.3929	7.4946	0.27481	0.118:0.5884:0.0:0.2936	.	650;650	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	E	650	ENSP00000446628:D650E;ENSP00000446132:D650E;ENSP00000381007:D650E;ENSP00000228327:D650E;ENSP00000266692:D650E	ENSP00000228327:D650E	D	+	3	2	NAV3	76939700	0.964000	0.33143	1.000000	0.80357	0.989000	0.77384	0.083000	0.14871	0.283000	0.22279	0.655000	0.94253	GAC	NAV3	-	NULL		0.418	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78415569	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78415569	C	A	78415569	3	1	175	1	0	0	0	0	1	0	0	0	10208	564	20	4	1984	4	NAV3	12	78415569	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	22891940	78415569	55436326	86	33066										
PAWR	5074	genome.wustl.edu	37	chr12	80014939	80014939	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ttgtgtaattgcatcttctcGtttccgctctttctgccctg	7	12	4	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:80014939G>A	ENST00000328827.4	-	3	937	c.565C>T	c.(565-567)Cga>Tga	p.R189*		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	189	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCATCTTCTCGTTTCCGCTCT	0.358																																																	0													312	243	267					12																	80014939		2203	4300	6503	SO:0001587	stop_gained	5074			U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.565C>T	12.37:g.80014939G>A	ENSP00000328088:p.Arg189*		O75796|Q6FHY9|Q8N700	Nonsense_Mutation	SNP	NULL	p.R189*	ENST00000328827.4	37	c.565	CCDS31863.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.461002|6.461002	0.97585|0.97585	.|.	.|.	ENSG00000177425|ENSG00000177425	ENST00000328827|ENST00000551712	.|.	.|.	.|.	5.52|5.52	2.13|2.13	0.27403|0.27403	.|.	0.385852|.	0.26251|.	N|.	0.025451|.	.|T	.|0.48732	.|0.1516	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56643	.|-0.7945	.|3	.|.	.|.	.|.	-5.2799|-5.2799	8.88|8.88	0.35370|0.35370	0.0:0.1207:0.3357:0.5436|0.0:0.1207:0.3357:0.5436	.|.	.|.	.|.	.|.	X|M	189|134	.|.	.|.	R|T	-|-	1|2	2|0	PAWR|PAWR	78539070|78539070	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	1.060000|1.060000	0.30530|0.30530	0.770000|0.770000	0.33336|0.33336	0.650000|0.650000	0.86243|0.86243	CGA|ACG	PAWR	-	NULL		0.358	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAWR	HGNC	protein_coding	OTTHUMT00000407175.1	G	NM_002583		80014939	-1	no_errors	ENST00000328827	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	80014939	G	A	80014939	4	1	175	1	0	0	0	0	0	1	0	0	11501	1153	40	2	477	2	PAWR	12	80014939	Nonsense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	1599370	80014939	53836956	87	33067										
POC1B	282809	genome.wustl.edu	37	chr12	89815013	89815013	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atcctctgtcaaagtcagtcGctgctccaagattgaaacag	8	11	3	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:89815013G>T	ENST00000313546.3	-	12	1482	c.1354C>A	c.(1354-1356)Cga>Aga	p.R452R	POC1B_ENST00000549035.1_Silent_p.R410R|POC1B_ENST00000393179.4_Silent_p.R322R|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000378528.2_3'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	452					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAAGTCAGTCGCTGCTCCAAG	0.398																																																	0													37	34	35					12																	89815013		2203	4300	6503	SO:0001819	synonymous_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1354C>A	12.37:g.89815013G>T			G3V1X0	Silent	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R452	ENST00000313546.3	37	c.1354	CCDS31869.1	12																																																																																			POC1B	-	NULL		0.398	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	G	NM_172240		89815013	-1	no_errors	ENST00000313546	ensembl	human	known	70_37	silent	SNP	1.000	T	T	89815013	G	T	89815013	2	4	175	1	0	0	0	0	0	0	0	1	12200	1095	38	2		2	POC1B	12	89815013	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	9800074	89815013	44036882	88	33068										
OAS3	4940	genome.wustl.edu	37	chr12	113401136	113401136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	agacccctggtcctggacccCgctgatcccacctggaacgt	10	17	0	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:113401136C>T	ENST00000228928.7	+	10	2282	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	701	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TCCTGGACCCCGCTGATCCCA	0.652																																																	0													12	13	13					12																	113401136		1939	4119	6058	SO:0001819	synonymous_variant	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2103C>T	12.37:g.113401136C>T			Q2HJ14|Q9H3P5	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.P701	ENST00000228928.7	37	c.2103	CCDS44981.1	12																																																																																			OAS3	-	pfam_2-5-oligoAdlate_synth_1_dom2/C		0.652	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	C			113401136	1	no_errors	ENST00000228928	ensembl	human	known	70_37	silent	SNP	0.640	T	T	113401136	C	T	113401136	2	4	175	1	0	0	0	0	0	0	0	1	10825	639	23	2		2	OAS3	12	113401136	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	23586123	113401136	20450759	89	33069										
PSPC1	55269	genome.wustl.edu	37	chr13	20279968	20279968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cagcaggggctgggctaaacGcatctatgtaaaacaatcta	10	9	2	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr13:20279968G>A	ENST00000338910.4	-	8	1379	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	407	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGGGCTAAACGCATCTATGTA	0.393																																																	0													60	66	64					13																	20279968		1842	4093	5935	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1220C>T	13.37:g.20279968G>A	ENSP00000343966:p.Ala407Val		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.A407V	ENST00000338910.4	37	c.1220	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546316	0.45383	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.15017	2.46	5.29	4.44	0.53790	.	0.175079	0.49305	D	0.000149	T	0.12390	0.0301	L	0.34521	1.04	0.39128	D	0.961804	P	0.34955	0.477	B	0.20184	0.028	T	0.07290	-1.0780	10	0.30854	T	0.27	-5.1699	15.8803	0.79197	0.0:0.136:0.864:0.0	.	407	Q8WXF1	PSPC1_HUMAN	V	407;347	ENSP00000343966:A407V	ENSP00000343966:A407V	A	-	2	0	PSPC1	19177968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.226000	0.65299	1.199000	0.43173	0.491000	0.48974	GCG	PSPC1	-	NULL		0.393	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	G			20279968	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20279968	G	A	20279968	3	1	175	1	0	0	0	0	1	0	0	0	12743	1087	38	2	359	2	PSPC1	13	20279968	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		20279968	94889910	90	33070										
PAN3	255967	genome.wustl.edu	37	chr13	28834689	28834689	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tggctgatgaactccgacagGtatgctttcagaattcatag	10	8	2	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr13:28834689G>T	ENST00000380958.3	+	8	1505		c.e8+1		PAN3_ENST00000282391.5_Splice_Site|PAN3_ENST00000399613.1_Splice_Site	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ACTCCGACAGGTATGCTTTCA	0.388																																																	0													110	98	102					13																	28834689		2203	4300	6503	SO:0001630	splice_region_variant	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1353+1G>T	13.37:g.28834689G>T				Splice_Site	SNP	-	e8+1	ENST00000380958.3	37	c.1353+1	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996600	0.93167	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8535	0.96748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAN3	27732689	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.605000	0.98321	2.686000	0.91538	0.585000	0.79938	.	PAN3	-	-		0.388	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	G	NM_175854	Intron	28834689	1	no_errors	ENST00000380958	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	28834689	G	T	28834689	5	4	175	1	0	0	0	0	0	0	1	0	11439	1275	44	4	1384	4	PAN3	13	28834689	Splice_Site	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	8554721	28834689	86335189	91	33071										
STOML3	161003	genome.wustl.edu	37	chr13	39541032	39541032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tgccctctagtatattcatgGgcagaggaaacacaatcgta	9	9	2	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr13:39541032G>T	ENST00000379631.4	-	7	1150	c.806C>A	c.(805-807)cCc>cAc	p.P269H	STOML3_ENST00000423210.1_Missense_Mutation_p.P260H	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	269					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TATATTCATGGGCAGAGGAAA	0.502																																																	0													100	95	97					13																	39541032		2203	4300	6503	SO:0001583	missense	161003			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.806C>A	13.37:g.39541032G>T	ENSP00000368952:p.Pro269His		B4E285|Q5JS35	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.P269H	ENST00000379631.4	37	c.806	CCDS9367.1	13	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000280	0.93227	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.99582	-6.22;-6.22	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97225	0.9880	10	0.87932	D	0	-28.7821	17.8702	0.88808	0.0:0.0:1.0:0.0	.	260;269	B4E285;Q8TAV4	.;STML3_HUMAN	H	269;260	ENSP00000368952:P269H;ENSP00000401989:P260H	ENSP00000368952:P269H	P	-	2	0	STOML3	38439032	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.480000	0.97931	2.552000	0.86080	0.655000	0.94253	CCC	STOML3	-	NULL		0.502	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STOML3	HGNC	protein_coding	OTTHUMT00000044604.2	G			39541032	-1	no_errors	ENST00000379631	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39541032	G	T	39541032	3	4	175	1	0	0	0	0	1	0	0	0	15345	1232	43	4	73	4	STOML3	13	39541032	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	10706343	39541032	75628846	92	33072										
LIG4	3981	genome.wustl.edu	37	chr13	108861165	108861165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	agcatacgagtccaaataaaCggtgtggcgtcgaaacatac	10	9	0	0	rs534543979		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr13:108861165C>T	ENST00000356922.4	-	2	2724	c.2452G>A	c.(2452-2454)Gtt>Att	p.V818I	LIG4_ENST00000442234.1_Missense_Mutation_p.V818I|LIG4_ENST00000405925.1_Missense_Mutation_p.V818I	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	818	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCCAAATAAACGGTGTGGCGT	0.433								Non-homologous end-joining					C|||	1	0.000199681	0	0	5008	,	,		17778	0		0	False		,,,				2504	0.001																0													90	86	87					13																	108861165		2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2452G>A	13.37:g.108861165C>T	ENSP00000349393:p.Val818Ile		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.V818I	ENST00000356922.4	37	c.2452	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	C	4.650	0.120876	0.08881	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.62788	0.0;0.0;0.0	5.59	-11.2	0.00127	BRCT (2);	0.751570	0.12870	N	0.432372	T	0.33030	0.0849	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.28396	-1.0045	10	0.15952	T	0.53	.	16.7725	0.85542	0.0:0.687:0.0988:0.2143	.	818	P49917	DNLI4_HUMAN	I	818	ENSP00000385955:V818I;ENSP00000402030:V818I;ENSP00000349393:V818I	ENSP00000349393:V818I	V	-	1	0	LIG4	107659166	0.000000	0.05858	0.000000	0.03702	0.657000	0.38888	-0.899000	0.04101	-2.507000	0.00506	-0.768000	0.03414	GTT	LIG4	-	smart_BRCT_dom,pfscan_BRCT_dom		0.433	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	C	NM_002312		108861165	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.000	T	T	108861165	C	T	108861165	3	4	175	1	0	0	0	0	1	0	0	0	8803	536	19	2	287	2	LIG4	13	108861165	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	69320133	108861165	6308713	93	33073										
TTLL5	23093	genome.wustl.edu	37	chr14	76243152	76243152	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gaggaagaagaggaagatggGgtgaatatggaaaactttca	15	2	1	4			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr14:76243152G>T	ENST00000298832.9	+	23	2551	c.2346G>T	c.(2344-2346)ggG>ggT	p.G782G	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Silent_p.G333G|TTLL5_ENST00000554510.1_Silent_p.G291G|TTLL5_ENST00000557636.1_Silent_p.G796G	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	782					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGGAAGATGGGGTGAATATGG	0.388																																																	0													130	127	128					14																	76243152		2203	4300	6503	SO:0001819	synonymous_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2346G>T	14.37:g.76243152G>T			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	pfam_Tub_tyr_ligase	p.G782	ENST00000298832.9	37	c.2346	CCDS32124.1	14																																																																																			TTLL5	-	NULL		0.388	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	G	NM_015072		76243152	1	no_errors	ENST00000298832	ensembl	human	known	70_37	silent	SNP	0.934	T	T	76243152	G	T	76243152	2	4	175	1	0	0	0	0	0	0	0	1	16761	1219	43	4		4	TTLL5	14	76243152	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		76243152	31106388	94	33074										
KIAA1409	57578	genome.wustl.edu	37	chr14	94008991	94008991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aagaccgtatgtgatgttcgCttcgatgtcatggtcatgtg	12	7	2	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr14:94008991C>T	ENST00000393151.2	+	14	1704	c.1704C>T	c.(1702-1704)cgC>cgT	p.R568R	UNC79_ENST00000256339.4_Silent_p.R391R|UNC79_ENST00000555664.1_Silent_p.R568R|UNC79_ENST00000553484.1_Silent_p.R568R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	568					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGATGTTCGCTTCGATGTCA	0.493																																																	0													279	241	254					14																	94008991		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1704C>T	14.37:g.94008991C>T			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.R568	ENST00000393151.2	37	c.1704		14																																																																																			UNC79	-	NULL		0.493	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	C	XM_028395		94008991	1	no_errors	ENST00000553484	ensembl	human	known	70_37	silent	SNP	0.999	T	T	94008991	C	T	94008991	2	4	175	1	0	0	0	0	0	0	0	1	8250	784	28	4		4	KIAA1409	14	94008991	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	17765839	94008991	13340549	95	33075										
GJD2	57369	genome.wustl.edu	37	chr15	35044752	35044752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cccttggcaggtccttgttaCgaatctcatagattgacttt	8	10	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:35044752C>T	ENST00000290374.4	-	2	1369	c.893G>A	c.(892-894)cGt>cAt	p.R298H	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	298					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTCCTTGTTACGAATCTCATA	0.537																																																	0													87	73	77					15																	35044752		2201	4298	6499	SO:0001583	missense	57369			AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.893G>A	15.37:g.35044752C>T	ENSP00000290374:p.Arg298His		Q2M241|Q9P2R0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.R298H	ENST00000290374.4	37	c.893	CCDS10040.1	15	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217329	0.79352	.	.	ENSG00000159248	ENST00000290374	D	0.98221	-4.8	5.86	5.86	0.93980	.	1.877190	0.02285	N	0.069770	D	0.98416	0.9473	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	D	0.90709	0.4626	10	0.36615	T	0.2	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	298	Q9UKL4	CXD2_HUMAN	H	298	ENSP00000290374:R298H	ENSP00000290374:R298H	R	-	2	0	GJD2	32832044	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	CGT	GJD2	-	NULL		0.537	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	HGNC	protein_coding	OTTHUMT00000251875.2	C			35044752	-1	no_errors	ENST00000290374	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35044752	C	T	35044752	3	4	175	1	0	0	0	0	1	0	0	0	6436	536	19	2	76	2	GJD2	15	35044752	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		35044752	67486640	96	33076										
CAPN3	825	genome.wustl.edu	37	chr15	42676699	42676699	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	aggaaatttgcgagaatcccCgatttatcattgatggagcc	10	8	1	2	rs121434545		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:42676699C>T	ENST00000397163.3	+	2	547	c.328C>T	c.(328-330)Cga>Tga	p.R110*	CAPN3_ENST00000349748.3_Nonsense_Mutation_p.R110*|CAPN3_ENST00000357568.3_Nonsense_Mutation_p.R110*|CAPN3_ENST00000318023.7_Nonsense_Mutation_p.R110*|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Nonsense_Mutation_p.R23*	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	110	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CGAGAATCCCCGATTTATCAT	0.418																																																	0			GRCh37	CI076942|CM950189	CAPN3	I|M	rs121434545						135	129	131					15																	42676699		2203	4299	6502	SO:0001587	stop_gained	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.328C>T	15.37:g.42676699C>T	ENSP00000380349:p.Arg110*		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R110*	ENST00000397163.3	37	c.328	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.209405	0.97376	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	.	.	.	5.5	2.17	0.27698	.	0.084750	0.49916	U	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	15.8365	0.78801	0.3642:0.6358:0.0:0.0	.	.	.	.	X	23;110;110;110;110	.	ENSP00000326281:R110X	R	+	1	2	CAPN3	40463991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.620000	0.46410	0.657000	0.30906	0.650000	0.86243	CGA	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.418	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	C			42676699	1	no_errors	ENST00000397163	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	42676699	C	T	42676699	4	4	175	1	0	0	0	0	0	1	0	0	2633	644	23	2	386	2	CAPN3	15	42676699	Nonsense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	7631947	42676699	59854693	97	33077										
ZNF609	23060	genome.wustl.edu	37	chr15	64967417	64967417	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	caaagccgactggctagcatCaaggctgaagccgacaagat	11	11	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:64967417C>G	ENST00000326648.3	+	4	2492	c.2364C>G	c.(2362-2364)atC>atG	p.I788M		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	788						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCTAGCATCAAGGCTGAAG	0.542																																																	0													55	58	57					15																	64967417		2202	4293	6495	SO:0001583	missense	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2364C>G	15.37:g.64967417C>G	ENSP00000316527:p.Ile788Met		Q0D2I2	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.I788M	ENST00000326648.3	37	c.2364	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483274	0.26598	.	.	ENSG00000180357	ENST00000326648	T	0.61510	0.1	5.88	4.96	0.65561	.	0.043088	0.85682	D	0.000000	T	0.48150	0.1484	L	0.45581	1.43	0.58432	D	0.999991	P	0.41673	0.759	B	0.37692	0.256	T	0.49513	-0.8932	10	0.46703	T	0.11	-20.7069	9.8286	0.40928	0.1407:0.7904:0.0:0.0689	.	788	O15014	ZN609_HUMAN	M	788	ENSP00000316527:I788M	ENSP00000316527:I788M	I	+	3	3	ZNF609	62754470	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.499000	0.22546	1.466000	0.48025	0.655000	0.94253	ATC	ZNF609	-	NULL		0.542	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	C	XM_042833		64967417	1	no_errors	ENST00000326648	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64967417	C	G	64967417	3	3	175	1	0	0	0	0	1	0	0	0	18065	816	29	1	2378	1	ZNF609	15	64967417	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	22290718	64967417	37563975	98	33078										
RCN2	5955	genome.wustl.edu	37	chr15	77239850	77239850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atttcttggtgattacaggtGggatccaagtaagtcacctg	11	7	2	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:77239850G>T	ENST00000394885.3	+	5	873	c.650G>T	c.(649-651)tGg>tTg	p.W217L	RCN2_ENST00000394883.3_Missense_Mutation_p.W116L|RCN2_ENST00000320963.5_Missense_Mutation_p.W235L	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	217	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						GATTACAGGTGGGATCCAAGT	0.378																																																	0													117	119	118					15																	77239850		2196	4294	6490	SO:0001583	missense	5955			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"EF-hand domain containing"	9935	protein-coding gene	gene with protein product	"Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.650G>T	15.37:g.77239850G>T	ENSP00000378349:p.Trp217Leu		A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.W217L	ENST00000394885.3	37	c.650	CCDS10291.1	15	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213245	0.39102	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	T;T;T	0.50548	0.74;0.74;0.74	5.18	4.26	0.50523	EF-hand-like domain (1);	0.293866	0.34906	N	0.003592	T	0.27241	0.0668	N	0.08118	0	0.26130	N	0.980429	B;B;B	0.12013	0.002;0.005;0.0	B;B;B	0.10450	0.0;0.005;0.0	T	0.18777	-1.0326	10	0.52906	T	0.07	-3.6011	9.9327	0.41532	0.1551:0.0:0.8449:0.0	.	116;235;217	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	L	217;235;116	ENSP00000378349:W217L;ENSP00000319739:W235L;ENSP00000378347:W116L	ENSP00000319739:W235L	W	+	2	0	RCN2	75026905	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	2.838000	0.48199	1.193000	0.43086	0.585000	0.79938	TGG	RCN2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.378	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RCN2	HGNC	protein_coding	OTTHUMT00000289795.1	G	NM_002902		77239850	1	no_errors	ENST00000394885	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77239850	G	T	77239850	3	4	175	1	0	0	0	0	1	0	0	0	13210	1357	47	4	668	4	RCN2	15	77239850	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	12272433	77239850	25291542	99	33079										
MAN2A2	4122	genome.wustl.edu	37	chr15	91448606	91448606	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gccaacgcagagggcccgccCgccatgctgccctactacac	10	19	0	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:91448606C>A	ENST00000559717.1	+	3	717	c.258C>A	c.(256-258)ccC>ccA	p.P86P	MAN2A2_ENST00000431652.2_5'Flank|MAN2A2_ENST00000360468.3_Silent_p.P86P			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	86					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGGCCCGCCCGCCATGCTGC	0.607																																																	0													49	55	53					15																	91448606		2198	4298	6496	SO:0001819	synonymous_variant	4122			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.258C>A	15.37:g.91448606C>A			A6NH12|A8K1E8|Q13754	Silent	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.P86	ENST00000559717.1	37	c.258	CCDS32332.1	15																																																																																			MAN2A2	-	NULL		0.607	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	C	NM_006122		91448606	1	no_errors	ENST00000360468	ensembl	human	known	70_37	silent	SNP	0.095	A	A	91448606	C	A	91448606	2	1	175	1	0	0	0	0	0	0	0	1	9238	639	23	2		2	MAN2A2	15	91448606	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	14208756	91448606	11082786	100	33080										
XYLT1	64131	genome.wustl.edu	37	chr16	17292212	17292212	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gccattctccagggggtgacGcggacattgctgtactgcct	13	12	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:17292212G>T	ENST00000261381.6	-	5	1230	c.1146C>A	c.(1144-1146)cgC>cgA	p.R382R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	382					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGGGGTGACGCGGACATTGC	0.597																																																	0													81	63	69					16																	17292212		2197	4300	6497	SO:0001819	synonymous_variant	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1146C>A	16.37:g.17292212G>T			Q9H1B6	Silent	SNP	pfam_XylT,pfam_Glyco_trans_14	p.R382	ENST00000261381.6	37	c.1146	CCDS10569.1	16																																																																																			XYLT1	-	pfam_Glyco_trans_14		0.597	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	G	NM_022166		17292212	-1	no_errors	ENST00000261381	ensembl	human	known	70_37	silent	SNP	0.002	T	T	17292212	G	T	17292212	2	4	175	1	0	0	0	0	0	0	0	1	17494	1074	38	2		2	XYLT1	16	17292212	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		17292212	73062541	101	33081										
DNAH3	55567	genome.wustl.edu	37	chr16	21031189	21031189	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ctcttctactgccctgatttCatctaaaagtgagaaaagcg	7	10	4	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:21031189C>T	ENST00000261383.3	-	41	5778	c.5779G>A	c.(5779-5781)Gaa>Aaa	p.E1927K	DNAH3_ENST00000415178.1_Missense_Mutation_p.M1883I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1927					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCCTGATTTCATCTAAAAGT	0.473																																																	0													63	61	61					16																	21031189		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5779G>A	16.37:g.21031189C>T	ENSP00000261383:p.Glu1927Lys		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.E1927K	ENST00000261383.3	37	c.5779	CCDS10594.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.792548|4.792548	0.90453|0.90453	.|.	.|.	ENSG00000158486|ENSG00000158486	ENST00000261383|ENST00000415178	T|T	0.26067|0.21932	1.76|1.98	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.785759|.	0.11870|.	N|.	0.521574|.	T|T	0.32255|0.32255	0.0823|0.0823	M|M	0.64997|0.64997	1.995|1.995	0.26539|0.26539	N|N	0.974118|0.974118	D|.	0.54964|.	0.969|.	P|.	0.46208|.	0.507|.	T|T	0.35425|0.35425	-0.9789|-0.9789	10|7	0.21540|0.08599	T|T	0.41|0.76	.|.	19.3762|19.3762	0.94510|0.94510	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1927|.	Q8TD57|.	DYH3_HUMAN|.	K|I	1927|1883	ENSP00000261383:E1927K|ENSP00000394245:M1883I	ENSP00000261383:E1927K|ENSP00000394245:M1883I	E|M	-|-	1|3	0|0	DNAH3|DNAH3	20938690|20938690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.641000|0.641000	0.38312|0.38312	6.837000|6.837000	0.75354|0.75354	2.597000|2.597000	0.87782|0.87782	0.558000|0.558000	0.71614|0.71614	GAA|ATG	DNAH3	-	NULL		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		21031189	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21031189	C	T	21031189	3	4	175	1	0	0	0	0	1	0	0	0	4613	835	29	1	6658	1	DNAH3	16	21031189	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	3738977	21031189	69323564	102	33082										
ZNF688	146542	genome.wustl.edu	37	chr16	30581408	30581408	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tccactgcgaacttcctcttGaagcgcatgccacactcggg	9	15	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:30581408G>A	ENST00000223459.6	-	3	1764	c.660C>T	c.(658-660)ttC>ttT	p.F220F	ZNF688_ENST00000395219.1_Silent_p.F206F|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						ACTTCCTCTTGAAGCGCATGC	0.711																																																	0													14	17	16					16																	30581408		2189	4282	6471	SO:0001819	synonymous_variant	146542			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.660C>T	16.37:g.30581408G>A			A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F220	ENST00000223459.6	37	c.660	CCDS10684.1	16																																																																																			ZNF688	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.711	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF688	HGNC	protein_coding	OTTHUMT00000255544.2	G	NM_145271		30581408	-1	no_errors	ENST00000223459	ensembl	human	known	70_37	silent	SNP	0.998	A	A	30581408	G	A	30581408	2	1	175	1	0	0	0	0	0	0	0	1	18123	1281	45	1		1	ZNF688	16	30581408	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	9550219	30581408	59773345	103	33083										
ZNF423	23090	genome.wustl.edu	37	chr16	49671686	49671686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ttcttgtgcagcttgcgaacGtgctcgttgaggttgtagag	14	7	1	2	rs370346450		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:49671686G>A	ENST00000561648.1	-	4	1430	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	ZNF423_ENST00000562871.1_Silent_p.H399H|ZNF423_ENST00000563137.2_Silent_p.H399H|ZNF423_ENST00000567169.1_Silent_p.H342H|ZNF423_ENST00000262383.2_Silent_p.H459H|ZNF423_ENST00000562520.1_Silent_p.H399H|ZNF423_ENST00000535559.1_Silent_p.H342H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	459					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTTGCGAACGTGCTCGTTGA	0.562																																																	0								G		0,4396		0,0,2198	145	124	131		1377	-1.4	1	16		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		459/1285	49671686	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1377C>T	16.37:g.49671686G>A			O94860|Q76N04|Q9NZ13	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H459	ENST00000561648.1	37	c.1377	CCDS32445.1	16																																																																																			ZNF423	-	smart_Znf_C2H2-like		0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	G	NM_015069		49671686	-1	no_errors	ENST00000262383	ensembl	human	known	70_37	silent	SNP	0.999	A	A	49671686	G	A	49671686	2	1	175	1	0	0	0	0	0	0	0	1	17928	1136	40	2		2	ZNF423	16	49671686	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	19090278	49671686	40683067	104	33084										
NOD2	64127	genome.wustl.edu	37	chr16	50750827	50750827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tcaacaacaaattgactgacGgctgtgcacactccatggct	8	12	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:50750827G>A	ENST00000300589.2	+	6	2677	c.2572G>A	c.(2572-2574)Ggc>Agc	p.G858S		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	858					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATTGACTGACGGCTGTGCACA	0.483																																																	0													194	184	187					16																	50750827		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2572G>A	16.37:g.50750827G>A	ENSP00000300589:p.Gly858Ser		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.G858S	ENST00000300589.2	37	c.2572	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	G	7.350	0.622698	0.14193	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.51325	0.71	5.76	5.76	0.90799	.	0.311546	0.29348	N	0.012405	T	0.27419	0.0673	N	0.21373	0.66	0.28072	N	0.932554	P	0.50443	0.935	B	0.36335	0.222	T	0.37865	-0.9687	10	0.02654	T	1	.	15.4789	0.75508	0.0:0.0:1.0:0.0	.	858	Q9HC29	NOD2_HUMAN	S	831;858	ENSP00000300589:G858S	ENSP00000300589:G858S	G	+	1	0	NOD2	49308328	0.996000	0.38824	0.949000	0.38748	0.225000	0.24961	3.582000	0.53921	2.719000	0.93026	0.555000	0.69702	GGC	NOD2	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.483	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	G	NM_022162		50750827	1	no_errors	ENST00000300589	ensembl	human	known	70_37	missense	SNP	0.994	A	A	50750827	G	A	50750827	3	1	175	1	0	0	0	0	1	0	0	0	10541	1116	39	2	2594	2	NOD2	16	50750827	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	1079141	50750827	39603926	105	33085										
NXN	64359	genome.wustl.edu	37	chr17	729261	729261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cacaaccttcccagtggtggCgtcgaggaatattagtgatg	12	9	0	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:729261C>T	ENST00000336868.3	-	2	509	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	NXN_ENST00000577098.1_5'UTR|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.A32T	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	140					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CCAGTGGTGGCGTCGAGGAAT	0.468																																																	0													156	134	142					17																	729261		2203	4300	6503	SO:0001583	missense	64359				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.418G>A	17.37:g.729261C>T	ENSP00000337443:p.Ala140Thr		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.A140T	ENST00000336868.3	37	c.418	CCDS10998.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115807	0.77323	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	D	0.81499	-1.5	6.17	6.17	0.99709	Thioredoxin-like fold (2);	0.044716	0.85682	D	0.000000	T	0.77184	0.4093	L	0.55990	1.75	0.80722	D	1	B;P;B	0.35011	0.026;0.48;0.393	B;B;B	0.24006	0.005;0.043;0.05	T	0.77186	-0.2680	10	0.62326	D	0.03	-17.5225	19.8676	0.96824	0.0:1.0:0.0:0.0	.	32;27;140	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	T	140;32	ENSP00000337443:A140T	ENSP00000337443:A140T	A	-	1	0	NXN	676011	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.850000	0.62889	2.941000	0.99782	0.655000	0.94253	GCC	NXN	-	superfamily_Thioredoxin-like_fold		0.468	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	HGNC	protein_coding	OTTHUMT00000206669.1	C			729261	-1	no_errors	ENST00000336868	ensembl	human	known	70_37	missense	SNP	1.000	T	T	729261	C	T	729261	3	4	175	1	0	0	0	0	1	0	0	0	10811	768	27	2	917	2	NXN	17	729261	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		729261	80465949	106	33086										
WDR81	124997	genome.wustl.edu	37	chr17	1634405	1634405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ccccagccgactgaacagccGtaaggaggcggggctgctgg	16	13	0	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:1634405G>A	ENST00000409644.1	+	4	4010	c.4010G>A	c.(4009-4011)cGt>cAt	p.R1337H	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.R134H|WDR81_ENST00000419248.1_Missense_Mutation_p.R110H|WDR81_ENST00000309182.5_Missense_Mutation_p.R286H|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000545662.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1337					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGAACAGCCGTAAGGAGGCG	0.652																																																	0													33	31	32					17																	1634405		2203	4300	6503	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4010G>A	17.37:g.1634405G>A	ENSP00000386609:p.Arg1337His		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1337H	ENST00000409644.1	37	c.4010	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.905086	0.97087	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644;ENST00000354680	T;T;T;T	0.55413	2.27;2.23;2.28;0.52	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.987	T	0.71358	-0.4617	10	0.66056	D	0.02	.	19.0936	0.93240	0.0:0.0:1.0:0.0	.	134;464;286	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	H	134;134;286;110;1337;88	ENSP00000391074:R134H;ENSP00000312074:R286H;ENSP00000407845:R110H;ENSP00000386609:R1337H	ENSP00000312074:R286H	R	+	2	0	WDR81	1581155	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.461000	0.97646	2.757000	0.94681	0.655000	0.94253	CGT	WDR81	-	NULL		0.652	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1634405	1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1634405	G	A	1634405	3	1	175	1	0	0	0	0	1	0	0	0	17361	1145	40	2	4086	2	WDR81	17	1634405	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	905144	1634405	79560805	107	33087										
PAFAH1B1	5048	genome.wustl.edu	37	chr17	2568719	2568719	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tggctatgaagaggcatattCagtttttaaaaaggaagctg	11	4	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:2568719C>A	ENST00000397195.5	+	3	537	c.86C>A	c.(85-87)tCa>tAa	p.S29*	PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GAGGCATATTCAGTTTTTAAA	0.299																																																	0													76	75	75					17																	2568719		2202	4295	6497	SO:0001587	stop_gained	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.86C>A	17.37:g.2568719C>A	ENSP00000380378:p.Ser29*			Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S29*	ENST00000397195.5	37	c.86	CCDS32528.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.872745	0.97049	.	.	ENSG00000007168	ENST00000397195	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	14.7841	0.69787	0.1447:0.8553:0.0:0.0	.	.	.	.	X	29	.	ENSP00000380378:S29X	S	+	2	0	PAFAH1B1	2515469	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	5.746000	0.68681	2.621000	0.88768	0.585000	0.79938	TCA	PAFAH1B1	-	pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pirsf_Dynein_regulator,pfscan_LisH_dimerisation		0.299	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2	C	NM_000430		2568719	1	no_errors	ENST00000397195	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	2568719	C	A	2568719	4	1	175	1	0	0	0	0	0	1	0	0	11408	838	29	3	92	3	PAFAH1B1	17	2568719	Nonsense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	934314	2568719	78626491	108	33088										
SOX15	6665	genome.wustl.edu	37	chr17	7491864	7491864	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tccagtttgcagtgggaagaGctgcagagagaaacaagagg	15	6	0	4			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:7491864G>T	ENST00000250055.2	-	2	1027	c.534C>A	c.(532-534)ggC>ggA	p.G178G	FXR2_ENST00000573057.1_5'Flank|MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000538513.2_Splice_Site_p.G178G	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	178					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						AGTGGGAAGAGCTGCAGAGAG	0.617																																																	0													67	75	73					17																	7491864		2203	4300	6503	SO:0001630	splice_region_variant	6665			AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"SRY (sex determining region Y)-boxes"	11196	protein-coding gene	gene with protein product		601297	"SRY (sex determining region Y)-box 20"	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.534-1C>A	17.37:g.7491864G>T			B4DWU7|D3DTQ0|P35717|Q9Y6W7	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.G178	ENST00000250055.2	37	c.534	CCDS32549.1	17																																																																																			SOX15	-	NULL		0.617	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX15	HGNC	protein_coding	OTTHUMT00000440757.1	G	NM_006942	Silent	7491864	-1	no_errors	ENST00000250055	ensembl	human	known	70_37	silent	SNP	0.994	T	T	7491864	G	T	7491864	5	4	175	1	0	0	0	0	0	0	1	0	14976	985	34	4	171	4	SOX15	17	7491864	Splice_Site	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	4923145	7491864	73703346	109	33089										
DNAH9	1770	genome.wustl.edu	37	chr17	11671931	11671931	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cagttcgaatttgaccccgaGatgcccttgcaggtgagtgc	12	11	0	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:11671931G>T	ENST00000262442.4	+	37	7400	c.7332G>T	c.(7330-7332)gaG>gaT	p.E2444D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2444D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2444	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGACCCCGAGATGCCCTTGC	0.562																																																	0													71	62	65					17																	11671931		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7332G>T	17.37:g.11671931G>T	ENSP00000262442:p.Glu2444Asp		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E2444D	ENST00000262442.4	37	c.7332	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	2.134	-0.398397	0.04865	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.37235	1.21;1.21	5.72	1.31	0.21738	.	1.053760	0.07506	N	0.908124	T	0.14399	0.0348	N	0.04297	-0.235	0.80722	D	1	B	0.06786	0.001	B	0.15870	0.014	T	0.40701	-0.9549	10	0.02654	T	1	.	6.2555	0.20872	0.3271:0.2849:0.388:0.0	.	2444	Q9NYC9	DYH9_HUMAN	D	2444;2444;1026	ENSP00000262442:E2444D;ENSP00000414874:E2444D	ENSP00000262442:E2444D	E	+	3	2	DNAH9	11612656	0.025000	0.19082	0.995000	0.50966	0.936000	0.57629	0.043000	0.13971	0.354000	0.24105	-0.140000	0.14226	GAG	DNAH9	-	NULL		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11671931	1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	0.640	T	T	11671931	G	T	11671931	3	4	175	1	0	0	0	0	1	0	0	0	4618	933	33	3	7478	3	DNAH9	17	11671931	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	4180067	11671931	69523279	110	33090										
ATPAF2	91647	genome.wustl.edu	37	chr17	17927999	17927999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ttgaagttccactaatgtctCgggctcctccaccctgtagc	8	14	1	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:17927999C>T	ENST00000474627.3	-	5	596	c.442G>A	c.(442-444)Gag>Aag	p.E148K	ATPAF2_ENST00000585101.1_Missense_Mutation_p.R99Q|ATPAF2_ENST00000469327.1_5'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	148					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					ACTAATGTCTCGGGCTCCTCC	0.408																																																	0													144	123	130					17																	17927999		2203	4300	6503	SO:0001583	missense	91647			AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"Mitochondrial respiratory chain complex assembly factors"	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.442G>A	17.37:g.17927999C>T	ENSP00000417190:p.Glu148Lys		A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	pfam_ATP12_ATPase-F1F0-assembly	p.E148K	ENST00000474627.3	37	c.442	CCDS32585.1	17	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164333	0.38217	.	.	ENSG00000171953	ENST00000474627;ENST00000444058	T;T	0.77620	-1.11;-1.11	4.81	4.81	0.61882	ATPase assembly, ATP12, domain (1);	0.487257	0.21968	N	0.066483	T	0.67297	0.2878	L	0.43598	1.365	0.30207	N	0.798113	B	0.31611	0.331	B	0.25884	0.064	T	0.63506	-0.6622	10	0.21014	T	0.42	-15.2909	12.8951	0.58095	0.0:0.7012:0.2988:0.0	.	148	Q8N5M1	ATPF2_HUMAN	K	148	ENSP00000417190:E148K;ENSP00000397198:E148K	ENSP00000434980:E148K	E	-	1	0	ATPAF2	17868724	0.867000	0.29959	1.000000	0.80357	0.944000	0.59088	1.312000	0.33574	2.360000	0.80028	0.561000	0.74099	GAG	ATPAF2	-	pfam_ATP12_ATPase-F1F0-assembly		0.408	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPAF2	HGNC	protein_coding	OTTHUMT00000131934.3	C	NM_145691		17927999	-1	no_errors	ENST00000474627	ensembl	human	known	70_37	missense	SNP	1.000	T	T	17927999	C	T	17927999	3	4	175	1	0	0	0	0	1	0	0	0	1202	893	31	1	443	1	ATPAF2	17	17927999	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	6256068	17927999	63267211	111	33091										
USP22	23326	genome.wustl.edu	37	chr17	20919144	20919144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tgctcgtagcctgctaggtgCctcgcgtgggtccacaccag	13	14	0	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:20919144C>T	ENST00000261497.4	-	6	962	c.759G>A	c.(757-759)agG>agA	p.R253R	USP22_ENST00000537526.2_Silent_p.R241R|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	253	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CTGCTAGGTGCCTCGCGTGGG	0.632																																																	0													50	60	57					17																	20919144		2052	4186	6238	SO:0001819	synonymous_variant	23326			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.759G>A	17.37:g.20919144C>T			A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R253	ENST00000261497.4	37	c.759	CCDS42285.1	17																																																																																			USP22	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.632	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	C			20919144	-1	no_errors	ENST00000261497	ensembl	human	known	70_37	silent	SNP	0.999	T	T	20919144	C	T	20919144	2	4	175	1	0	0	0	0	0	0	0	1	17085	738	26	4		4	USP22	17	20919144	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	2991145	20919144	60276066	112	33092										
KRT40	125115	genome.wustl.edu	37	chr17	39135243	39135243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ctgggagctgtactgggcctCggtttctgccacggtgcatt	14	11	1	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:39135243C>T	ENST00000398486.2	-	8	1169	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	KRT40_ENST00000377755.4_Missense_Mutation_p.E337K	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	337	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TACTGGGCCTCGGTTTCTGCC	0.562																																																	0													82	90	87					17																	39135243		2194	4285	6479	SO:0001583	missense	125115			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1009G>A	17.37:g.39135243C>T	ENSP00000381500:p.Glu337Lys		Q6IFU5	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E337K	ENST00000398486.2	37	c.1009	CCDS42320.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081519	0.76528	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.91577	-2.87;-2.87	5.56	5.56	0.83823	Filament (1);	0.000000	0.34088	N	0.004268	D	0.94739	0.8302	M	0.69823	2.125	0.42382	D	0.992496	D	0.76494	0.999	D	0.67900	0.954	D	0.94409	0.7630	10	0.52906	T	0.07	.	18.8707	0.92313	0.0:1.0:0.0:0.0	.	337	Q6A162	K1C40_HUMAN	K	337	ENSP00000366984:E337K;ENSP00000381500:E337K	ENSP00000366984:E337K	E	-	1	0	KRT40	36388769	0.986000	0.35501	0.966000	0.40874	0.604000	0.37047	2.334000	0.43920	2.784000	0.95788	0.655000	0.94253	GAG	KRT40	-	pfam_F		0.562	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT40	HGNC	protein_coding	OTTHUMT00000257701.3	C	NM_182497		39135243	-1	no_errors	ENST00000377755	ensembl	human	known	70_37	missense	SNP	0.995	T	T	39135243	C	T	39135243	3	4	175	1	0	0	0	0	1	0	0	0	8498	893	31	1	294	1	KRT40	17	39135243	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	18216099	39135243	42059967	113	33093										
LRRC37A3	374819	genome.wustl.edu	37	chr17	62892159	62892159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tcacagagacactgggtgaaGctaaatgatgagtttgatgg	13	5	1	5	rs17857225		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:62892159G>T	ENST00000584306.1	-	3	1747	c.1217C>A	c.(1216-1218)gCt>gAt	p.A406D	RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A406D|LRRC37A3_ENST00000577487.1_5'Flank	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	406						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTGGGTGAAGCTAAATGATG	0.537																																																	0													1	1	1					17																	62892159		292	887	1179	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1217C>A	17.37:g.62892159G>T	ENSP00000464535:p.Ala406Asp		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A406D	ENST00000584306.1	37	c.1217	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	0	-2.581395	0.00129	.	.	ENSG00000176809	ENST00000319651	T	0.59772	0.24	2.63	-5.25	0.02781	.	.	.	.	.	T	0.16342	0.0393	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11108	-1.0601	9	0.11794	T	0.64	.	2.8545	0.05568	0.2063:0.2804:0.3945:0.1188	.	406	O60309	L37A3_HUMAN	D	406	ENSP00000325713:A406D	ENSP00000325713:A406D	A	-	2	0	LRRC37A3	60322621	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.921000	0.01569	-5.806000	0.00009	-2.171000	0.00323	GCT	LRRC37A3	-	NULL		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	G	NM_199340		62892159	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	T	T	62892159	G	T	62892159	3	4	175	1	0	0	0	0	1	0	0	0	9016	971	34	4	3735	4	LRRC37A3	17	62892159	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	23756916	62892159	18303051	114	33094										
TMEM104	54868	genome.wustl.edu	37	chr17	72832676	72832676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ctggtgtaccactgccgcagGgacacccagctggcctttgg	13	14	0	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:72832676G>A	ENST00000335464.5	+	10	1503	c.1341G>A	c.(1339-1341)agG>agA	p.R447R	TMEM104_ENST00000582330.1_Silent_p.R447R|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	447						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACTGCCGCAGGGACACCCAGC	0.652																																																	0													57	47	51					17																	72832676		2203	4300	6503	SO:0001819	synonymous_variant	54868			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1341G>A	17.37:g.72832676G>A			Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	pfam_AA_transpt_TM	p.R447	ENST00000335464.5	37	c.1341	CCDS32723.1	17																																																																																			TMEM104	-	pfam_AA_transpt_TM		0.652	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	G	NM_017728		72832676	1	no_errors	ENST00000335464	ensembl	human	known	70_37	silent	SNP	0.989	A	A	72832676	G	A	72832676	2	1	175	1	0	0	0	0	0	0	0	1	16048	1223	43	4		4	TMEM104	17	72832676	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	9940517	72832676	8362534	115	33095										
RHBDF2	79651	genome.wustl.edu	37	chr17	74475004	74475004	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ggaggtgagggacaggactcCgggggtcagcggtgggtgcg	23	7	1	1	rs376555925		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:74475004C>A	ENST00000313080.4	-	6	916	c.643G>T	c.(643-645)Gga>Tga	p.G215*	RHBDF2_ENST00000591885.1_Nonsense_Mutation_p.G186*|RHBDF2_ENST00000389760.4_Nonsense_Mutation_p.G186*|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	215					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GACAGGACTCCGGGGGTCAGC	0.677																																																	0													52	46	48					17																	74475004		2203	4300	6503	SO:0001587	stop_gained	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.643G>T	17.37:g.74475004C>A	ENSP00000322775:p.Gly215*		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Nonsense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.G215*	ENST00000313080.4	37	c.643	CCDS32743.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.843546	0.97881	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-36.6475	19.4888	0.95042	0.0:1.0:0.0:0.0	.	.	.	.	X	215;186;161	.	ENSP00000322775:G215X	G	-	1	0	RHBDF2	71986599	1.000000	0.71417	0.605000	0.28930	0.438000	0.31896	6.072000	0.71238	2.605000	0.88082	0.455000	0.32223	GGA	RHBDF2	-	pfam_Rhomboid_SP		0.677	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	C	NM_024599		74475004	-1	no_errors	ENST00000313080	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	74475004	C	A	74475004	4	1	175	1	0	0	0	0	0	1	0	0	13350	661	23	2	1983	2	RHBDF2	17	74475004	Nonsense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	1642328	74475004	6720206	116	33096										
GAA	2548	genome.wustl.edu	37	chr17	78082385	78082385	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cgccaggtggtggagaacatGaccagggcccacttccccct	12	15	0	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:78082385G>A	ENST00000302262.3	+	7	1392	c.1173G>A	c.(1171-1173)atG>atA	p.M391I	GAA_ENST00000390015.3_Missense_Mutation_p.M391I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	391			M -> V (found in a patient with GSD2; unknown pathological significance). {ECO:0000269|PubMed:22644586}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TGGAGAACATGACCAGGGCCC	0.677																																																	0													29	28	28					17																	78082385		2203	4300	6503	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1173G>A	17.37:g.78082385G>A	ENSP00000305692:p.Met391Ile		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.M391I	ENST00000302262.3	37	c.1173	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472452	0.63737	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91351	-2.83;-2.83	4.34	4.34	0.51931	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	M	0.76574	2.34	0.48762	D	0.999704	D	0.60160	0.987	D	0.64410	0.925	D	0.94640	0.7829	10	0.49607	T	0.09	-44.0511	17.1829	0.86859	0.0:0.0:1.0:0.0	.	391	P10253	LYAG_HUMAN	I	391	ENSP00000305692:M391I;ENSP00000374665:M391I	ENSP00000305692:M391I	M	+	3	0	GAA	75696980	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.198000	0.94994	2.100000	0.63781	0.462000	0.41574	ATG	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.677	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	G			78082385	1	no_errors	ENST00000302262	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78082385	G	A	78082385	3	1	175	1	0	0	0	0	1	0	0	0	6165	1290	45	1	1195	1	GAA	17	78082385	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	3607381	78082385	3112825	117	33097										
FAM38B	63895	genome.wustl.edu	37	chr18	10773531	10773531	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tagccctcaagcttctcctcCccaggctcagccaacttcct	5	19	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr18:10773531C>A	ENST00000503781.3	-	18	2588	c.2589G>T	c.(2587-2589)ggG>ggT	p.G863G	PIEZO2_ENST00000302079.6_Silent_p.G863G|PIEZO2_ENST00000383408.2_Silent_p.G151G|PIEZO2_ENST00000580640.1_Silent_p.G888G	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	863	Glu-rich.				cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GCTTCTCCTCCCCAGGCTCAG	0.592																																																	0													78	68	71					18																	10773531		692	1591	2283	SO:0001819	synonymous_variant	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2589G>T	18.37:g.10773531C>A			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.G877	ENST00000503781.3	37	c.2631		18																																																																																			PIEZO2	-	NULL		0.592	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	C	NM_022068		10773531	-1	no_errors	ENST00000582913	ensembl	human	known	70_37	silent	SNP	0.000	A	A	10773531	C	A	10773531	2	1	175	1	0	0	0	0	0	0	0	1	5573	610	22	4		4	FAM38B	18	10773531	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		10773531	67303717	118	33098										
PHLPP1	23239	genome.wustl.edu	37	chr18	60645726	60645726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ccaagaagctgtgtaccctgGcccagagctacggctgccac	11	15	0	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr18:60645726G>T	ENST00000262719.5	+	17	4450	c.4216G>T	c.(4216-4218)Gcc>Tcc	p.A1406S	PHLPP1_ENST00000400316.4_Missense_Mutation_p.A894S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1406	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GTGTACCCTGGCCCAGAGCTA	0.657																																																	0													17	23	21					18																	60645726		2140	4255	6395	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4216G>T	18.37:g.60645726G>T	ENSP00000262719:p.Ala1406Ser		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.A1406S	ENST00000262719.5	37	c.4216	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852588	0.91355	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.28895	1.59;1.59	4.61	4.61	0.57282	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.56307	0.1976	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61486	-0.7053	9	0.72032	D	0.01	-18.1707	17.6551	0.88175	0.0:0.0:1.0:0.0	.	1406	O60346	PHLP1_HUMAN	S	894;1406	ENSP00000383170:A894S;ENSP00000262719:A1406S	ENSP00000262719:A1406S	A	+	1	0	PHLPP1	58796706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.494000	0.97962	2.392000	0.81423	0.655000	0.94253	GCC	PHLPP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.657	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	G	NM_194449		60645726	1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60645726	G	T	60645726	3	4	175	1	0	0	0	0	1	0	0	0	11878	1203	42	4	4282	4	PHLPP1	18	60645726	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	49872195	60645726	17431522	119	33099										
SOCS6	9306	genome.wustl.edu	37	chr18	67993397	67993397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gtcccggttcatgcaggtgcGctcgttgcagtacctgtgtc	13	12	1	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr18:67993397G>A	ENST00000397942.3	+	2	1809	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R498H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	498	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ATGCAGGTGCGCTCGTTGCAG	0.448																																					Melanoma(84;1024 1361 24382 36583 42651)												0													101	87	92					18																	67993397		2203	4300	6503	SO:0001583	missense	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1493G>A	18.37:g.67993397G>A	ENSP00000381034:p.Arg498His		Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R498H	ENST00000397942.3	37	c.1493	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350771	0.24512	.	.	ENSG00000170677	ENST00000397942	T	0.52057	0.68	5.7	3.93	0.45458	SOCS protein, C-terminal (4);SH2 motif (1);	0.066206	0.64402	D	0.000007	T	0.55257	0.1909	M	0.88775	2.98	0.80722	D	1	B	0.17465	0.022	B	0.21546	0.035	T	0.56655	-0.7943	10	0.54805	T	0.06	-12.0302	12.2201	0.54429	0.1367:0.0:0.8633:0.0	.	498	O14544	SOCS6_HUMAN	H	498	ENSP00000381034:R498H	ENSP00000381034:R498H	R	+	2	0	SOCS6	66144377	1.000000	0.71417	0.871000	0.34182	0.047000	0.14425	7.856000	0.86956	0.771000	0.33359	-0.258000	0.10820	CGC	SOCS6	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.448	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	G			67993397	1	no_errors	ENST00000397942	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67993397	G	A	67993397	3	1	175	1	0	0	0	0	1	0	0	0	14948	1087	38	2	1495	2	SOCS6	18	67993397	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	7347671	67993397	10083851	120	33100										
ATP9B	374868	genome.wustl.edu	37	chr18	77067172	77067172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ttactgaggagactgagttcGcagaggctgaccaagacttc	12	9	0	6	rs113878267	byFrequency	TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr18:77067172G>A	ENST00000426216.2	+	15	1728	c.1711G>A	c.(1711-1713)Gca>Aca	p.A571T	ATP9B_ENST00000307671.7_Missense_Mutation_p.A571T	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	571					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A571P(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GACTGAGTTCGCAGAGGCTGA	0.557																																																	1	Substitution - Missense(1)	lung(1)						G	THR/ALA	0,4406		0,0,2203	106	98	101		1711	1.2	0	18	dbSNP_132	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP9B	NM_198531.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	571/1148	77067172	1,13005	2203	4300	6503	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1711G>A	18.37:g.77067172G>A	ENSP00000398076:p.Ala571Thr		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A571T	ENST00000426216.2	37	c.1711	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	2.572	-0.299337	0.05532	0.0	1.16E-4	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.95821	-3.82;-3.82	5.01	1.24	0.21308	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.581707	0.18135	N	0.150611	D	0.87192	0.6116	N	0.17082	0.46	0.45025	D	0.998041	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.73375	-0.4002	10	0.19590	T	0.45	.	4.6828	0.12743	0.3007:0.0:0.5599:0.1394	.	571;571	O43861;O43861-2	ATP9B_HUMAN;.	T	571	ENSP00000398076:A571T;ENSP00000304500:A571T	ENSP00000304500:A571T	A	+	1	0	ATP9B	75168160	1.000000	0.71417	0.000000	0.03702	0.014000	0.08584	3.189000	0.50965	-0.055000	0.13244	-0.251000	0.11542	GCA	ATP9B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.557	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	G	NM_198531		77067172	1	no_errors	ENST00000426216	ensembl	human	known	70_37	missense	SNP	0.149	A	A	77067172	G	A	77067172	3	1	175	1	0	0	0	0	1	0	0	0	1200	1087	38	2	1769	2	ATP9B	18	77067172	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	9073775	77067172	1010076	121	33101										
RHPN2	85415	genome.wustl.edu	37	chr19	33535269	33535269	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tttgtgcaaggggattacagCcctgaggaaaaataagagat	12	5	0	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr19:33535269C>T	ENST00000254260.3	-	2	106	c.71G>A	c.(70-72)gGc>gAc	p.G24D	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	24					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGGATTACAGCCCTGAGGAAA	0.438																																																	0													49	47	48					19																	33535269		2203	4300	6503	SO:0001630	splice_region_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.70-1G>A	19.37:g.33535269C>T			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.G24D	ENST00000254260.3	37	c.71	CCDS12427.1	19	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411965	0.62511	.	.	ENSG00000131941	ENST00000254260	T	0.31769	1.48	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60265	-0.7297	10	0.87932	D	0	-16.396	17.8132	0.88623	0.0:1.0:0.0:0.0	.	24	Q8IUC4	RHPN2_HUMAN	D	24	ENSP00000254260:G24D	ENSP00000254260:G24D	G	-	2	0	RHPN2	38227109	1.000000	0.71417	0.992000	0.48379	0.122000	0.20287	7.069000	0.76755	2.563000	0.86464	0.561000	0.74099	GGC	RHPN2	-	superfamily_HR1_rho-bd		0.438	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	C	NM_033103	Missense_Mutation	33535269	-1	no_errors	ENST00000254260	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33535269	C	T	33535269	5	4	175	1	0	0	0	0	0	0	1	0	13381	753	26	4	2045	4	RHPN2	19	33535269	Splice_Site	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		33535269	25593714	122	33102										
FUT1	2523	genome.wustl.edu	37	chr19	49254068	49254068	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	agcttcaggaaaggatctctCaagtccgcgtactcctccga	9	13	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr19:49254068C>G	ENST00000310160.3	-	4	1445	c.471G>C	c.(469-471)ttG>ttC	p.L157F	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	157					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAGGATCTCTCAAGTCCGCGT	0.617																																																	0													119	130	127					19																	49254068		2200	4297	6497	SO:0001583	missense	2523				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.471G>C	19.37:g.49254068C>G	ENSP00000312021:p.Leu157Phe		O14505|O14506|O14507	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.L157F	ENST00000310160.3	37	c.471	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391082	0.25118	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.97378	-4.36	4.54	3.5	0.40072	.	0.450712	0.17127	N	0.185978	D	0.97204	0.9086	M	0.63428	1.95	0.09310	N	1	D	0.67145	0.996	D	0.68483	0.958	D	0.91787	0.5440	10	0.72032	D	0.01	-1.2575	5.6838	0.17790	0.1935:0.7068:0.0:0.0997	.	157	P19526	FUT1_HUMAN	F	157;147	ENSP00000312021:L157F	ENSP00000312021:L157F	L	-	3	2	FUT1	53945880	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	-0.408000	0.07169	1.286000	0.44565	0.563000	0.77884	TTG	FUT1	-	pfam_Glyco_trans_11		0.617	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	HGNC	protein_coding	OTTHUMT00000466194.1	C	NM_000148		49254068	-1	no_errors	ENST00000310160	ensembl	human	known	70_37	missense	SNP	0.007	G	G	49254068	C	G	49254068	3	3	175	1	0	0	0	0	1	0	0	0	6119	825	29	1	630	1	FUT1	19	49254068	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	15718799	49254068	9874915	123	33103										
FCGRT	2217	genome.wustl.edu	37	chr19	50027768	50027768	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gcctgatttcctgcagagccCccctccatgcgcctgaaggc	10	17	0	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr19:50027768C>A	ENST00000221466.5	+	5	1092	c.606C>A	c.(604-606)ccC>ccA	p.P202P	FCGRT_ENST00000426395.3_Silent_p.P202P|FCGRT_ENST00000596975.1_Silent_p.P110P|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000594823.1_3'UTR	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	202	Alpha-3.|Ig-like C1-type.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTGCAGAGCCCCCCTCCATGC	0.622																																																	0													56	56	56					19																	50027768		2203	4300	6503	SO:0001819	synonymous_variant	2217			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.606C>A	19.37:g.50027768C>A			Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.P202	ENST00000221466.5	37	c.606	CCDS12770.1	19	.	.	.	.	.	.	.	.	.	.	C	9.255	1.041836	0.19748	.	.	ENSG00000104870	ENST00000415900;ENST00000452439	.	.	.	4.37	-8.75	0.00834	.	0.165190	0.29080	N	0.013218	T	0.36690	0.0976	.	.	.	0.20307	N	0.999916	.	.	.	.	.	.	T	0.46176	-0.9210	6	0.87932	D	0	.	9.0864	0.36584	0.239:0.5027:0.2583:0.0	.	.	.	.	H	148;231	.	ENSP00000391574:P148H	P	+	2	0	FCGRT	54719580	0.001000	0.12720	0.723000	0.30687	0.940000	0.58332	-4.257000	0.00265	-1.711000	0.01395	-0.539000	0.04255	CCC	FCGRT	-	pfscan_Ig-like		0.622	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1	C			50027768	1	no_errors	ENST00000221466	ensembl	human	known	70_37	silent	SNP	0.510	A	A	50027768	C	A	50027768	2	1	175	1	0	0	0	0	0	0	0	1	5804	610	22	4		4	FCGRT	19	50027768	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	773700	50027768	9101215	124	33104										
CPNE1	8904	genome.wustl.edu	37	chr20	34219869	34219869	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	atcccaggggtctcatacctCagatctgtacaccaggtgcc	9	14	3	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr20:34219869C>T	ENST00000317619.3	-	8	929	c.535G>A	c.(535-537)Gag>Aag	p.E179K	CPNE1_ENST00000397442.1_Missense_Mutation_p.E179K|CPNE1_ENST00000397443.1_Missense_Mutation_p.E179K|CPNE1_ENST00000397446.1_Missense_Mutation_p.E179K|CPNE1_ENST00000397445.1_Missense_Mutation_p.E179K|CPNE1_ENST00000352393.4_Missense_Mutation_p.E179K|CPNE1_ENST00000317677.5_Missense_Mutation_p.E184K			Q99829	CPNE1_HUMAN	copine I	179	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCTCATACCTCAGATCTGTAC	0.542																																																	0													60	58	58					20																	34219869		2203	4300	6503	SO:0001583	missense	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.535G>A	20.37:g.34219869C>T	ENSP00000326126:p.Glu179Lys		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.E184K	ENST00000317619.3	37	c.550	CCDS13260.1	20	.	.	.	.	.	.	.	.	.	.	c	22.9	4.344142	0.82022	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664;ENST00000416778;ENST00000439806;ENST00000420363;ENST00000434795	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	4.96	4.96	0.65561	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.213388	0.38663	U	0.001601	T	0.76828	0.4042	L	0.43646	1.37	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.996;0.996;0.933;0.982	D;D;D;P;P	0.73380	0.98;0.976;0.947;0.856;0.755	T	0.78912	-0.2017	10	0.72032	D	0.01	-12.9932	17.9872	0.89159	0.0:1.0:0.0:0.0	.	184;179;179;179;159	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	K	179;184;179;179;179;179;179;179;155;155;179;155;179;179;179	ENSP00000336945:E179K;ENSP00000317257:E184K;ENSP00000326126:E179K;ENSP00000380588:E179K;ENSP00000380587:E179K;ENSP00000380585:E179K;ENSP00000380584:E179K;ENSP00000415597:E179K;ENSP00000390626:E155K;ENSP00000416962:E155K;ENSP00000404355:E179K;ENSP00000389662:E155K;ENSP00000387434:E179K;ENSP00000401915:E179K;ENSP00000409794:E179K	ENSP00000326126:E179K	E	-	1	0	CPNE1	33683283	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.425000	0.80255	2.581000	0.87130	0.558000	0.71614	GAG	CPNE1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.542	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	C	NM_152930		34219869	-1	no_errors	ENST00000317677	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34219869	C	T	34219869	3	4	175	1	0	0	0	0	1	0	0	0	3816	835	29	1	1122	1	CPNE1	20	34219869	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		34219869	28805651	125	33105										
DIDO1	11083	genome.wustl.edu	37	chr20	61513055	61513055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ccacctcttcccgctcggctGcagctgcttcaggagccctt	9	18	2	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr20:61513055G>T	ENST00000266070.4	-	16	4578	c.4253C>A	c.(4252-4254)gCa>gAa	p.A1418E	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1418E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1418					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGCTCGGCTGCAGCTGCTTC	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													84	91	89					20																	61513055		2203	4298	6501	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4253C>A	20.37:g.61513055G>T	ENSP00000266070:p.Ala1418Glu		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.A1418E	ENST00000266070.4	37	c.4253	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	G	0.158	-1.083830	0.01888	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08282	3.11;3.11	0.235	0.235	0.15431	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.33694	0.421	B	0.26864	0.074	T	0.44112	-0.9349	8	0.31617	T	0.26	.	.	.	.	.	1418	Q9BTC0	DIDO1_HUMAN	E	1418	ENSP00000266070:A1418E;ENSP00000378752:A1418E	ENSP00000266070:A1418E	A	-	2	0	DIDO1	60983500	0.000000	0.05858	0.060000	0.19600	0.013000	0.08279	-0.015000	0.12634	0.308000	0.22923	0.313000	0.20887	GCA	DIDO1	-	NULL		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	G	NM_080796		61513055	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.036	T	T	61513055	G	T	61513055	3	4	175	1	0	0	0	0	1	0	0	0	4532	1319	46	4	2473	4	DIDO1	20	61513055	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	27293186	61513055	1512465	126	33106										
SFRS15	57466	genome.wustl.edu	37	chr21	33065619	33065619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tgagttaccacttgcagtttCcggtttcacttgagggaggc	12	9	1	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr21:33065619C>T	ENST00000286835.7	-	12	1883	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	SCAF4_ENST00000399804.1_Missense_Mutation_p.E501K|SCAF4_ENST00000434667.3_Missense_Mutation_p.E486K	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	501						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTTGCAGTTTCCGGTTTCACT	0.403																																																	0													129	129	129					21																	33065619		2203	4300	6503	SO:0001583	missense	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1501G>A	21.37:g.33065619C>T	ENSP00000286835:p.Glu501Lys		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.E501K	ENST00000286835.7	37	c.1501	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101944	0.56183	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.44083	0.93;0.93;0.93	5.21	5.21	0.72293	.	0.169147	0.41712	D	0.000821	T	0.49012	0.1532	L	0.33485	1.01	0.58432	D	0.999993	D;D;D;D	0.69078	0.996;0.97;0.997;0.996	P;P;P;P	0.61800	0.787;0.607;0.894;0.787	T	0.27971	-1.0058	10	0.10636	T	0.68	-20.2023	18.752	0.91819	0.0:1.0:0.0:0.0	.	486;501;501;501	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	K	486;501;501	ENSP00000402377:E486K;ENSP00000286835:E501K;ENSP00000382703:E501K	ENSP00000286835:E501K	E	-	1	0	SCAF4	31987490	0.996000	0.38824	0.977000	0.42913	0.992000	0.81027	2.625000	0.46452	2.418000	0.82041	0.563000	0.77884	GAA	SCAF4	-	NULL		0.403	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	C	XM_047889		33065619	-1	no_errors	ENST00000286835	ensembl	human	known	70_37	missense	SNP	0.997	T	T	33065619	C	T	33065619	3	4	175	1	0	0	0	0	1	0	0	0	14201	864	30	1	1978	1	SFRS15	21	33065619	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09		33065619	15064276	127	33107										
MRAP	56246	genome.wustl.edu	37	chr21	33684046	33684046	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tggagtcacggcctcaacctCcacctctgcatccagaagtg	9	15	3	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr21:33684046C>A	ENST00000399784.2	+	5	445	c.258C>A	c.(256-258)ctC>ctA	p.L86L	MRAP_ENST00000339944.4_Intron|MRAP_ENST00000303645.5_Silent_p.L86L|AP000266.7_ENST00000450936.1_RNA|MRAP_ENST00000497833.1_3'UTR|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000399786.3_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	86					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						GCCTCAACCTCCACCTCTGCA	0.612																																																	0													109	85	93					21																	33684046		2203	4300	6503	SO:0001819	synonymous_variant	56246			AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"chromosome 21 open reading frame 61"	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.258C>A	21.37:g.33684046C>A			Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Silent	SNP	NULL	p.L86	ENST00000399784.2	37	c.258	CCDS13613.1	21																																																																																			MRAP	-	NULL		0.612	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRAP	HGNC	protein_coding	OTTHUMT00000193092.1	C	NM_178817		33684046	1	no_errors	ENST00000303645	ensembl	human	known	70_37	silent	SNP	0.067	A	A	33684046	C	A	33684046	2	1	175	1	0	0	0	0	0	0	0	1	9776	842	30	3		3	MRAP	21	33684046	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	618427	33684046	14445849	128	33108										
MICAL3	57553	genome.wustl.edu	37	chr22	18387564	18387564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cccagtaaggataagtcgatGgctgtacggagaccacaggg	14	9	0	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr22:18387564G>A	ENST00000441493.2	-	3	658	c.306C>T	c.(304-306)gcC>gcT	p.A102A	MICAL3_ENST00000207726.7_Silent_p.A102A|MICAL3_ENST00000383094.3_Silent_p.A102A|MICAL3_ENST00000585038.1_Silent_p.A102A|MICAL3_ENST00000444520.1_Silent_p.A102A|MICAL3_ENST00000414725.2_Silent_p.A102A|MICAL3_ENST00000400561.2_Silent_p.A102A|MICAL3_ENST00000429452.1_Silent_p.A102A	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	102	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATAAGTCGATGGCTGTACGGA	0.512																																																	0													78	73	74					22																	18387564		1568	3582	5150	SO:0001819	synonymous_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.306C>T	22.37:g.18387564G>A			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.A102	ENST00000441493.2	37	c.306	CCDS46659.1	22																																																																																			MICAL3	-	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like		0.512	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	G			18387564	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18387564	G	A	18387564	2	1	175	1	0	0	0	0	0	0	0	1	9594	1335	47	4		4	MICAL3	22	18387564	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		18387564	32917002	129	33109										
LRP5L	91355	genome.wustl.edu	37	chr22	25750617	25750617	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	catcaggtcgggcagctggtCaatgatgacgtcccggttgg	15	10	2	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr22:25750617C>T	ENST00000402785.2	-	3	697	c.601G>A	c.(601-603)Gac>Aac	p.D201N	LRP5L_ENST00000402859.2_Missense_Mutation_p.D201N|LRP5L_ENST00000444995.3_Missense_Mutation_p.D201N			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	201					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GGCAGCTGGTCAATGATGACG	0.617																																																	0													183	145	158					22																	25750617		2200	4300	6500	SO:0001583	missense	91355			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.601G>A	22.37:g.25750617C>T	ENSP00000384562:p.Asp201Asn		B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.D201N	ENST00000402785.2	37	c.601	CCDS33626.1	22	.	.	.	.	.	.	.	.	.	.	c	17.58	3.424508	0.62733	.	.	ENSG00000100068	ENST00000402859;ENST00000444995;ENST00000402785	D;D;D	0.91068	-2.78;-2.78;-2.78	2.44	2.44	0.29823	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.93400	0.7895	M	0.86651	2.83	0.50813	D	0.999895	P;B	0.52061	0.95;0.175	P;B	0.53549	0.729;0.055	D	0.93758	0.7064	9	0.66056	D	0.02	.	11.0249	0.47739	0.0:1.0:0.0:0.0	.	201;201	A4QPB2-2;A4QPB2	.;LRP5L_HUMAN	N	201	ENSP00000384291:D201N;ENSP00000407283:D201N;ENSP00000384562:D201N	ENSP00000384562:D201N	D	-	1	0	LRP5L	24080617	1.000000	0.71417	0.999000	0.59377	0.451000	0.32288	6.929000	0.75852	1.671000	0.50874	0.194000	0.17425	GAC	LRP5L	-	NULL		0.617	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	C	NM_182492		25750617	-1	no_errors	ENST00000402785	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25750617	C	T	25750617	3	4	175	1	0	0	0	0	1	0	0	0	8984	826	29	1	165	1	LRP5L	22	25750617	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	7363053	25750617	25553949	130	33110										
NLGN4X	57502	genome.wustl.edu	37	chrX	5827180	5827180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gtcactctcttggggtccccGccaaaggctcccacattctc	8	17	3	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:5827180G>A	ENST00000381095.3	-	4	1353	c.726C>T	c.(724-726)ggC>ggT	p.G242G	NLGN4X_ENST00000275857.6_Silent_p.G242G|NLGN4X_ENST00000381093.2_Silent_p.G262G|NLGN4X_ENST00000381092.1_Silent_p.G242G|NLGN4X_ENST00000538097.1_Silent_p.G242G	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	242					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGGTCCCCGCCAAAGGCTC	0.562																																																	0													84	74	78					X																	5827180		2203	4300	6503	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.726C>T	X.37:g.5827180G>A			Q6UX10|Q9ULG0	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G262	ENST00000381095.3	37	c.786	CCDS14126.1	X																																																																																			NLGN4X	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3		0.562	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5827180	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	silent	SNP	0.946	A	A	5827180	G	A	5827180	2	1	175	1	0	0	0	0	0	0	0	1	10488	1074	38	2		2	NLGN4X	23	5827180	Silent	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09		5827180	149443380	131	33111										
NHS	4810	genome.wustl.edu	37	chrX	17744047	17744047	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	gacacgtttgggagccccatCcactgcatctccacggctgg	11	15	1	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:17744047C>G	ENST00000380060.3	+	6	2096	c.1758C>G	c.(1756-1758)atC>atG	p.I586M	NHS_ENST00000398097.3_Missense_Mutation_p.I430M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	607					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGAGCCCCATCCACTGCATCT	0.567																																																	0													83	68	73					X																	17744047		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1758C>G	X.37:g.17744047C>G	ENSP00000369400:p.Ile586Met		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.I586M	ENST00000380060.3	37	c.1758	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641976	0.29157	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.53640	0.61;0.62	5.86	3.77	0.43336	.	0.255283	0.45606	D	0.000344	T	0.53965	0.1829	M	0.76838	2.35	0.40147	D	0.976902	P;P;P;P	0.36909	0.573;0.573;0.573;0.573	P;P;P;P	0.47528	0.549;0.549;0.549;0.468	T	0.52953	-0.8506	10	0.30854	T	0.27	-11.9559	6.1039	0.20063	0.0:0.5798:0.0:0.4202	.	607;428;430;586	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	M	586;430;428	ENSP00000369400:I586M;ENSP00000381170:I430M	ENSP00000369397:I428M	I	+	3	3	NHS	17653968	0.985000	0.35326	1.000000	0.80357	0.982000	0.71751	0.176000	0.16782	1.224000	0.43551	0.600000	0.82982	ATC	NHS	-	NULL		0.567	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744047	1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.999	G	G	17744047	C	G	17744047	3	3	175	1	0	0	0	0	1	0	0	0	10435	845	30	1	1885	1	NHS	23	17744047	Missense_Mutation	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	11916867	17744047	137526513	132	33112										
NHS	4810	genome.wustl.edu	37	chrX	17744197	17744197	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	cctgcagcttctcctccactCactggctcttcacactgtga	6	17	4	1			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:17744197C>G	ENST00000380060.3	+	6	2246	c.1908C>G	c.(1906-1908)ctC>ctG	p.L636L	NHS_ENST00000398097.3_Silent_p.L480L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	657					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTCCTCCACTCACTGGCTCTT	0.542																																																	0													127	111	116					X																	17744197		2203	4300	6503	SO:0001819	synonymous_variant	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1908C>G	X.37:g.17744197C>G			B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	NULL	p.L636	ENST00000380060.3	37	c.1908	CCDS14181.1	X																																																																																			NHS	-	NULL		0.542	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744197	1	no_errors	ENST00000380060	ensembl	human	known	70_37	silent	SNP	0.984	G	G	17744197	C	G	17744197	2	3	175	1	0	0	0	0	0	0	0	1	10435	813	29	1		1	NHS	23	17744197	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	150	17744197	137526363	133	33113										
CFP	5199	genome.wustl.edu	37	chrX	47486553	47486553	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ggtgtacctgggcagggtggCaggccggtgcacctccgctg	18	12	0	0			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:47486553C>A	ENST00000396992.3	-	5	873	c.753G>T	c.(751-753)ctG>ctT	p.L251L	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Silent_p.L251L|CFP_ENST00000377005.2_Silent_p.L251L	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	251	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGCAGGGTGGCAGGCCGGTGC	0.617																																																	0													30	32	31					X																	47486553		2203	4299	6502	SO:0001819	synonymous_variant	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.753G>T	X.37:g.47486553C>A			O15134|O15135|O15136|O75826	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L251	ENST00000396992.3	37	c.753	CCDS14282.1	X																																																																																			CFP	-	pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.617	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	C	NM_002621		47486553	-1	no_errors	ENST00000247153	ensembl	human	known	70_37	silent	SNP	0.955	A	A	47486553	C	A	47486553	2	1	175	1	0	0	0	0	0	0	0	1	3298	697	25	4		4	CFP	23	47486553	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	29742356	47486553	107784007	134	33114										
SLC38A5	92745	genome.wustl.edu	37	chrX	48317943	48317943	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tggatcttgggccaggataaGaaaggctccacctcagaggg	14	9	2	2			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:48317943G>C	ENST00000376876.3	-	15	2139	c.1296C>G	c.(1294-1296)ttC>ttG	p.F432L	SLC38A5_ENST00000376875.1_Missense_Mutation_p.F381L|SLC38A5_ENST00000317669.5_Missense_Mutation_p.F432L|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	432					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCCAGGATAAGAAAGGCTCCA	0.572																																																	0													51	43	46					X																	48317943		2201	4299	6500	SO:0001583	missense	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1296C>G	X.37:g.48317943G>C	ENSP00000366073:p.Phe432Leu		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.F432L	ENST00000376876.3	37	c.1296	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	0.816	-0.750290	0.03041	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.01981	4.52;4.52;4.52	5.28	1.14	0.20703	.	0.570552	0.15303	N	0.269503	T	0.00608	0.0020	N	0.00427	-1.505	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46034	-0.9220	10	0.07813	T	0.8	.	4.7421	0.13017	0.1015:0.5232:0.2449:0.1304	.	432	Q8WUX1	S38A5_HUMAN	L	432;381;432	ENSP00000366073:F432L;ENSP00000366071:F381L;ENSP00000313740:F432L	ENSP00000313740:F432L	F	-	3	2	SLC38A5	48202887	0.000000	0.05858	0.083000	0.20561	0.825000	0.46686	-0.047000	0.11963	0.075000	0.16796	0.523000	0.50628	TTC	SLC38A5	-	pfam_AA_transpt_TM		0.572	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	G	NM_033518		48317943	-1	no_errors	ENST00000317669	ensembl	human	known	70_37	missense	SNP	0.001	C	C	48317943	G	C	48317943	3	2	175	1	0	0	0	0	1	0	0	0	14637	933	33	1	130	1	SLC38A5	23	48317943	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	831390	48317943	106952617	135	33115										
BRWD3	254065	genome.wustl.edu	37	chrX	79936929	79936929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ggctatatccaccgaagctcGatgaagaaaatggcccatct	9	11	1	2	rs374994843		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:79936929G>A	ENST00000373275.4	-	40	4781	c.4565C>T	c.(4564-4566)tCg>tTg	p.S1522L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1522					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACCGAAGCTCGATGAAGAAAA	0.388																																																	0								G	LEU/SER	0,3835		0,0,0,1632,571	110	104	106		4565	4.1	0.9	X		106	1,6727		0,0,1,2428,1871	no	missense	BRWD3	NM_153252.4	145	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	possibly-damaging	1522/1803	79936929	1,10562	2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4565C>T	X.37:g.79936929G>A	ENSP00000362372:p.Ser1522Leu		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S1522L	ENST00000373275.4	37	c.4565	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242373	0.39598	0.0	1.49E-4	ENSG00000165288	ENST00000373275	T	0.55413	0.52	4.06	4.06	0.47325	.	0.205892	0.41396	D	0.000888	T	0.36853	0.0982	L	0.34521	1.04	0.34407	D	0.695935	B	0.32731	0.382	B	0.19148	0.024	T	0.50923	-0.8770	9	.	.	.	-1.5229	13.9697	0.64233	0.0:0.0:1.0:0.0	.	1522	Q6RI45	BRWD3_HUMAN	L	1522	ENSP00000362372:S1522L	.	S	-	2	0	BRWD3	79823585	1.000000	0.71417	0.931000	0.37212	0.400000	0.30750	6.036000	0.70948	1.980000	0.57719	0.415000	0.27848	TCG	BRWD3	-	NULL		0.388	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79936929	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	0.948	A	A	79936929	G	A	79936929	3	1	175	1	0	0	0	0	1	0	0	0	1529	1059	37	1	851	1	BRWD3	23	79936929	Missense_Mutation	SNP	G	TCGA-MU-A5YI-01A-11D-A32I-09	31618986	79936929	75333631	136	33116										
IRS4	8471	genome.wustl.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																																	0										32,3681		0,19,13,1569,524						4	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs			Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.K592fs	ENST00000372129.2	37	c.1773_1772	CCDS14544.1	X																																																																																			IRS4	-	NULL		0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	-	NM_003604		107977803	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	frame_shift_ins	INS	0.031:0.016	C	C	107977803	-	C	107977802	7	5	175	1	0	1	1	0	0	0	0	0	7862	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-MU-A5YI-01A-11D-A32I-09	28040873	107977802	47292758	137	33117										
GPC3	2719	genome.wustl.edu	37	chrX	132730622	132730622	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.204379562043796	28	4.67243069266806e-08	3.07675906183369	6.22959183673469	2.31774376417234	0.222263268043224	0.45871355319559	19	ttgggcatagacatggttctCaggagctgaaagaaaacaac	11	7	1	3			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:132730622C>T	ENST00000370818.3	-	7	1864	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	GPC3_ENST00000543339.1_Silent_p.L419L|GPC3_ENST00000394299.2_Silent_p.L496L	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	473					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACATGGTTCTCAGGAGCTGAA	0.428			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																														yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													155	135	142					X																	132730622		2203	4300	6503	SO:0001819	synonymous_variant	2719	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1419G>A	X.37:g.132730622C>T			C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	pfam_Glypican	p.L496	ENST00000370818.3	37	c.1488	CCDS14638.1	X																																																																																			GPC3	-	pfam_Glypican		0.428	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	HGNC	protein_coding	OTTHUMT00000058356.1	C	NM_004484		132730622	-1	no_errors	ENST00000394299	ensembl	human	known	70_37	silent	SNP	1.000	T	T	132730622	C	T	132730622	2	4	175	1	0	0	0	0	0	0	0	1	6618	813	29	1		1	GPC3	23	132730622	Silent	SNP	C	TCGA-MU-A5YI-01A-11D-A32I-09	24752820	132730622	22539938	138	33118										
ISG15	9636	genome.wustl.edu	37	chr1	949717	949717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gggctggagggtgtgcaggaCgacctgttctggctgacctt	17	9	1	1	rs376631917		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:949717C>T	ENST00000379389.4	+	2	508	c.357C>T	c.(355-357)gaC>gaT	p.D119D	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	119	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GTGTGCAGGACGACCTGTTCT	0.637																																																	0								C		0,4406		0,0,2203	72	72	72		357	-8.4	0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ISG15	NM_005101.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		119/166	949717	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9636			BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"interferon, alpha-inducible protein (clone IFI-15K)"	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.357C>T	1.37:g.949717C>T			Q5SVA4|Q7Z2G2|Q96GF0	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.D119	ENST00000379389.4	37	c.357	CCDS6.1	1																																																																																			ISG15	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr		0.637	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG15	HGNC	protein_coding	OTTHUMT00000097989.1	C	NM_005101		949717	1	no_errors	ENST00000379389	ensembl	human	known	70_37	silent	SNP	0.000	T	T	949717	C	T	949717	2	4	176	1	0	0	0	0	0	0	0	1	7873	535	19	2		2	ISG15	1	949717	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09		949717	248300904	1	33119										
LRRC47	57470	genome.wustl.edu	37	chr1	3703508	3703508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gggccgcacatcccggacctCggggctcactctgactgtca	12	16	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:3703508C>T	ENST00000378251.1	-	2	1009	c.982G>A	c.(982-984)Gag>Aag	p.E328K	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	328							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TCCCGGACCTCGGGGCTCACT	0.652																																																	0													31	30	30					1																	3703508		2200	4299	6499	SO:0001583	missense	57470			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.982G>A	1.37:g.3703508C>T	ENSP00000367498:p.Glu328Lys		Q9ULN5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd	p.E328K	ENST00000378251.1	37	c.982	CCDS51.1	1	.	.	.	.	.	.	.	.	.	.	C	2.268	-0.367752	0.05069	.	.	ENSG00000130764	ENST00000378251	T	0.45668	0.89	5.22	2.16	0.27623	.	0.672707	0.15858	N	0.241186	T	0.25306	0.0615	L	0.47190	1.495	0.09310	N	1	P	0.37158	0.585	B	0.25614	0.062	T	0.07868	-1.0750	10	0.19590	T	0.45	-20.955	5.7345	0.18059	0.141:0.6325:0.0:0.2264	.	328	Q8N1G4	LRC47_HUMAN	K	328	ENSP00000367498:E328K	ENSP00000367498:E328K	E	-	1	0	LRRC47	3693368	0.000000	0.05858	0.989000	0.46669	0.712000	0.41017	0.468000	0.22051	1.208000	0.43306	0.650000	0.86243	GAG	LRRC47	-	NULL		0.652	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC47	HGNC	protein_coding	OTTHUMT00000009744.1	C	NM_020710		3703508	-1	no_errors	ENST00000378251	ensembl	human	known	70_37	missense	SNP	0.086	T	T	3703508	C	T	3703508	3	4	176	1	0	0	0	0	1	0	0	0	9027	893	31	1	793	1	LRRC47	1	3703508	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2753791	3703508	245547113	2	33120										
TMEM82	388595	genome.wustl.edu	37	chr1	16074126	16074126	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccagagttcggccccctcttGacctgcctcagggaggatct	11	15	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:16074126G>A	ENST00000375782.1	+	6	1169	c.1031G>A	c.(1030-1032)tGa>tAa	p.*344*	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	0						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCTCTTGACCTGCCTCA	0.622																																																	0													68	70	69					1																	16074126		2203	4300	6503	SO:0001819	synonymous_variant	388595				CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.1031G>A	1.37:g.16074126G>A			B2RP27|Q5VVD4	Silent	SNP	NULL	p.*344	ENST00000375782.1	37	c.1031	CCDS30608.1	1																																																																																			TMEM82	-	NULL		0.622	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM82	HGNC	protein_coding	OTTHUMT00000008471.2	G	NM_001013641		16074126	1	no_errors	ENST00000375782	ensembl	human	known	70_37	silent	SNP	0.972	A	A	16074126	G	A	16074126	2	1	176	1	0	0	0	0	0	0	0	1	16236	1285	45	1		1	TMEM82	1	16074126	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	12370618	16074126	233176495	3	33121										
ATP13A2	23400	genome.wustl.edu	37	chr1	17331879	17331879	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgactctcacctctttgtctCttatttcgataacgagtgtt	6	10	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:17331879C>T	ENST00000326735.8	-	3	311	c.278G>A	c.(277-279)aGa>aAa	p.R93K	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R93K|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R93K			Q9NQ11	AT132_HUMAN	ATPase type 13A2	93					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CTCTTTGTCTCTTATTTCGAT	0.627																																																	0													27	30	29					1																	17331879		2202	4299	6501	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.278G>A	1.37:g.17331879C>T	ENSP00000327214:p.Arg93Lys		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.R93K	ENST00000326735.8	37	c.278	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531795	0.27387	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699	D;D;D	0.92545	-2.81;-3.06;-2.81	3.85	1.86	0.25419	.	0.648071	0.15075	N	0.281982	D	0.84502	0.5486	L	0.35723	1.085	0.21473	N	0.999678	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.14578	0.002;0.011;0.003	T	0.66590	-0.5885	10	0.11794	T	0.64	-4.5098	7.4133	0.27029	0.0:0.7075:0.0:0.2925	.	93;93;93	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	K	93	ENSP00000327214:R93K;ENSP00000341115:R93K;ENSP00000413307:R93K	ENSP00000327214:R93K	R	-	2	0	ATP13A2	17204466	0.968000	0.33430	0.994000	0.49952	0.985000	0.73830	0.472000	0.22116	0.363000	0.24346	0.491000	0.48974	AGA	ATP13A2	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	C	NM_022089		17331879	-1	no_errors	ENST00000326735	ensembl	human	known	70_37	missense	SNP	0.997	T	T	17331879	C	T	17331879	3	4	176	1	0	0	0	0	1	0	0	0	1125	913	32	1	3608	1	ATP13A2	1	17331879	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1257753	17331879	231918742	4	33122										
ATP13A2	23400	genome.wustl.edu	37	chr1	17332006	17332006	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	catcatccagaccacgacgtGatagccgatgaccctccatg	8	15	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:17332006G>A	ENST00000326735.8	-	3	184	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	ATP13A2_ENST00000341676.5_Missense_Mutation_p.H51Y|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.H51Y			Q9NQ11	AT132_HUMAN	ATPase type 13A2	51					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACCACGACGTGATAGCCGATG	0.667																																																	0													42	49	46					1																	17332006		2203	4300	6503	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.151C>T	1.37:g.17332006G>A	ENSP00000327214:p.His51Tyr		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.H51Y	ENST00000326735.8	37	c.151	CCDS175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.588703|3.588703	0.66105|0.66105	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699|ENST00000510069;ENST00000509619	T;T;T|.	0.19250|.	2.16;2.16;2.16|.	4.84|4.84	3.92|3.92	0.45320|0.45320	.|.	0.166402|.	0.56097|.	D|.	0.000032|.	T|T	0.42131|0.42131	0.1189|0.1189	L|L	0.38838|0.38838	1.175|1.175	0.33366|0.33366	D|D	0.572941|0.572941	B;D;B|.	0.71674|.	0.002;0.998;0.024|.	B;P;B|.	0.60012|.	0.004;0.867;0.023|.	T|T	0.52571|0.52571	-0.8558|-0.8558	10|5	0.02654|.	T|.	1|.	-18.5429|-18.5429	8.6973|8.6973	0.34305|0.34305	0.1779:0.0:0.8221:0.0|0.1779:0.0:0.8221:0.0	.|.	51;51;51|.	Q5JXY1;Q6S9Z9;Q9NQ11|.	.;.;AT132_HUMAN|.	Y|L	51|26;43	ENSP00000327214:H51Y;ENSP00000341115:H51Y;ENSP00000413307:H51Y|.	ENSP00000327214:H51Y|.	H|S	-|-	1|2	0|0	ATP13A2|ATP13A2	17204593|17204593	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	4.862000|4.862000	0.62976|0.62976	1.174000|1.174000	0.42811|0.42811	0.491000|0.491000	0.48974|0.48974	CAC|TCA	ATP13A2	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.667	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	G	NM_022089		17332006	-1	no_errors	ENST00000326735	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17332006	G	A	17332006	3	1	176	1	0	0	0	0	1	0	0	0	1125	1290	45	1	3735	1	ATP13A2	1	17332006	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	127	17332006	231918615	5	33123										
EIF4G3	8672	genome.wustl.edu	37	chr1	21268001	21268001	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tacctgggacagggctccttCttgaatttaagttttgagaa	10	7	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:21268001C>T	ENST00000264211.8	-	8	1672	c.1478G>A	c.(1477-1479)aGa>aAa	p.R493K	EIF4G3_ENST00000374927.4_Missense_Mutation_p.R493K|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.R504K|EIF4G3_ENST00000602326.1_Missense_Mutation_p.R499K|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R97K|EIF4G3_ENST00000544689.1_5'UTR|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R499K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R493K	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	493					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGGCTCCTTCTTGAATTTAA	0.393																																																	0													169	175	173					1																	21268001		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1478G>A	1.37:g.21268001C>T	ENSP00000264211:p.Arg493Lys		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.R499K	ENST00000264211.8	37	c.1496	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	0.436	-0.901074	0.02472	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.5	3.65	0.41850	.	0.481200	0.22494	N	0.059338	T	0.10423	0.0255	N	0.14661	0.345	0.21604	N	0.999622	B;B;B;B;B;B	0.32467	0.152;0.007;0.372;0.0;0.039;0.001	B;B;B;B;B;B	0.33392	0.085;0.006;0.163;0.001;0.014;0.002	T	0.28522	-1.0041	10	0.06494	T	0.89	-5.8209	10.1253	0.42646	0.0:0.8469:0.0:0.1531	.	493;688;619;97;499;493	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	K	493;689;493;499;97;619;493;504	ENSP00000264211:R493K;ENSP00000383274:R493K;ENSP00000364073:R499K;ENSP00000444693:R97K;ENSP00000364062:R493K	ENSP00000264211:R493K	R	-	2	0	EIF4G3	21140588	1.000000	0.71417	0.999000	0.59377	0.030000	0.12068	1.450000	0.35134	0.889000	0.36185	-0.802000	0.03209	AGA	EIF4G3	-	NULL		0.393	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	C	NM_003760		21268001	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21268001	C	T	21268001	3	4	176	1	0	0	0	0	1	0	0	0	5050	913	32	1	3375	1	EIF4G3	1	21268001	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3935995	21268001	227982620	6	33124										
WASF2	10163	genome.wustl.edu	37	chr1	27734742	27734742	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	atcttctgagtcactgtactCaacagcaatgcgacgagaca	8	11	4	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:27734742C>T	ENST00000430629.2	-	9	1653	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	WASF2_ENST00000536657.1_3'UTR	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	480					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TCACTGTACTCAACAGCAATG	0.512																																																	0													142	124	130					1																	27734742		2203	4300	6503	SO:0001583	missense	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1438G>A	1.37:g.27734742C>T	ENSP00000396211:p.Glu480Lys		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E480K	ENST00000430629.2	37	c.1438	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.953355	0.97139	.	.	ENSG00000158195	ENST00000430629	T	0.55760	0.5	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.85197	2.74	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.80013	-0.1560	10	0.87932	D	0	-13.1404	19.422	0.94726	0.0:1.0:0.0:0.0	.	480	Q9Y6W5	WASF2_HUMAN	K	480	ENSP00000396211:E480K	ENSP00000396211:E480K	E	-	1	0	WASF2	27607329	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.487000	0.81328	2.684000	0.91462	0.655000	0.94253	GAG	WASF2	-	NULL		0.512	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	C	NM_006990		27734742	-1	no_errors	ENST00000430629	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27734742	C	T	27734742	3	4	176	1	0	0	0	0	1	0	0	0	17284	835	29	1	62	1	WASF2	1	27734742	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	6466741	27734742	221515879	7	33125										
COL16A1	1307	genome.wustl.edu	37	chr1	32131524	32131524	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gttaccttggggtcctcgctCtcctctgggaccctgtcacc	10	16	3	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:32131524C>G	ENST00000373672.3	-	54	3931	c.3415G>C	c.(3415-3417)Gag>Cag	p.E1139Q	COL16A1_ENST00000271069.6_Missense_Mutation_p.E1139Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1139	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGTCCTCGCTCTCCTCTGGGA	0.617																																					Colon(143;498 1786 21362 25193 36625)												0													121	129	126					1																	32131524		2123	4240	6363	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3415G>C	1.37:g.32131524C>G	ENSP00000362776:p.Glu1139Gln		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E1139Q	ENST00000373672.3	37	c.3415	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367459	0.42003	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.93366	-3.21;-3.21;-3.17	4.45	4.45	0.53987	.	0.130982	0.49916	D	0.000121	D	0.93249	0.7849	L	0.33485	1.01	0.37635	D	0.92181	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	D	0.91275	0.5047	10	0.15952	T	0.53	.	12.9657	0.58483	0.0:1.0:0.0:0.0	.	1139;1138	Q07092;Q07092-2	COGA1_HUMAN;.	Q	1139;1139;20	ENSP00000362776:E1139Q;ENSP00000271069:E1139Q;ENSP00000390281:E20Q	ENSP00000271069:E1139Q	E	-	1	0	COL16A1	31904111	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.006000	0.40874	2.207000	0.71202	0.455000	0.32223	GAG	COL16A1	-	pfam_Collagen		0.617	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	C	NM_001856		32131524	-1	no_errors	ENST00000271069	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32131524	C	G	32131524	3	3	176	1	0	0	0	0	1	0	0	0	3678	922	32	1	1471	1	COL16A1	1	32131524	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	4396782	32131524	217119097	8	33126										
ZC3H12A	80149	genome.wustl.edu	37	chr1	37945919	37945919	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acaaggaggtcttctcctgcCggggcatcctgctggcagtg	14	12	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:37945919C>A	ENST00000373087.6	+	3	588	c.472C>A	c.(472-474)Cgg>Agg	p.R158R		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTCTCCTGCCGGGGCATCCT	0.632																																																	0													78	70	73					1																	37945919		2203	4300	6503	SO:0001819	synonymous_variant	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.472C>A	1.37:g.37945919C>A				Silent	SNP	pfam_RNase_Zc3h12	p.R158	ENST00000373087.6	37	c.472	CCDS417.1	1																																																																																			ZC3H12A	-	pfam_RNase_Zc3h12		0.632	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	C	NM_025079		37945919	1	no_errors	ENST00000373082	ensembl	human	known	70_37	silent	SNP	1.000	A	A	37945919	C	A	37945919	2	1	176	1	0	0	0	0	0	0	0	1	17591	643	23	2		2	ZC3H12A	1	37945919	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	5814395	37945919	211304702	9	33127										
RLF	6018	genome.wustl.edu	37	chr1	40702077	40702077	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcgggaatgtatagaggctaGaattcttcatcattctaaga	10	6	4	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:40702077G>C	ENST00000372771.4	+	8	1730	c.1703G>C	c.(1702-1704)aGa>aCa	p.R568T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	568					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATAGAGGCTAGAATTCTTCAT	0.338																																																	0													72	78	76					1																	40702077		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1703G>C	1.37:g.40702077G>C	ENSP00000361857:p.Arg568Thr		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R568T	ENST00000372771.4	37	c.1703	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563337	0.45694	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.36157	1.27	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);	0.091705	0.64402	D	0.000001	T	0.60919	0.2306	M	0.62723	1.935	0.48511	D	0.999661	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.941	T	0.56842	-0.7912	10	0.54805	T	0.06	-12.4466	20.6593	0.99626	0.0:0.0:1.0:0.0	.	261;568	F5H2M5;Q13129	.;RLF_HUMAN	T	568;261	ENSP00000361857:R568T	ENSP00000361857:R568T	R	+	2	0	RLF	40474664	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.033000	0.70925	2.885000	0.99019	0.655000	0.94253	AGA	RLF	-	smart_Znf_C2H2-like		0.338	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	G	NM_012421		40702077	1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	0.999	C	C	40702077	G	C	40702077	3	2	176	1	0	0	0	0	1	0	0	0	13419	942	33	1	1733	1	RLF	1	40702077	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2756158	40702077	208548544	10	33128										
MUTYH	4595	genome.wustl.edu	37	chr1	45805915	45805915	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agacgactcaggcgggagacGagcggtgtcatggccgccga	17	11	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:45805915G>A	ENST00000372098.3	-	1	145	c.12C>T	c.(10-12)ctC>ctT	p.L4L	MUTYH_ENST00000528332.2_Silent_p.L4L|MUTYH_ENST00000372110.3_Silent_p.L4L|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000372104.1_5'Flank|TOE1_ENST00000539779.1_5'UTR|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000372115.3_Silent_p.L4L|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000372090.5_5'UTR|MUTYH_ENST00000529984.1_5'UTR|MUTYH_ENST00000450313.1_Silent_p.L4L|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000488731.2_5'Flank			Q9UIF7	MUTYH_HUMAN	mutY homolog	4					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCGGGAGACGAGCGGTGTCA	0.677			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													50	45	47					1																	45805915		2202	4300	6502	SO:0001819	synonymous_variant	4595	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.12C>T	1.37:g.45805915G>A			D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.L4	ENST00000372098.3	37	c.12	CCDS520.1	1																																																																																			MUTYH	-	NULL		0.677	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	G	NM_012222		45805915	-1	no_errors	ENST00000450313	ensembl	human	known	70_37	silent	SNP	0.001	A	A	45805915	G	A	45805915	2	1	176	1	0	0	0	0	0	0	0	1	10016	1045	37	1		1	MUTYH	1	45805915	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	5103838	45805915	203444706	11	33129										
LRRC41	10489	genome.wustl.edu	37	chr1	46751848	46751848	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gagtatagcgacacttgactGacagccccatggtgaatgag	12	9	0	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:46751848G>A	ENST00000343304.6	-	4	966	c.681C>T	c.(679-681)gtC>gtT	p.V227V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	227					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACACTTGACTGACAGCCCCAT	0.567																																																	0													61	55	57					1																	46751848		2203	4300	6503	SO:0001819	synonymous_variant	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.681C>T	1.37:g.46751848G>A			A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.V227	ENST00000343304.6	37	c.681	CCDS533.1	1																																																																																			LRRC41	-	NULL		0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	G	NM_006369		46751848	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	silent	SNP	0.488	A	A	46751848	G	A	46751848	2	1	176	1	0	0	0	0	0	0	0	1	9022	1277	45	1		1	LRRC41	1	46751848	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	945933	46751848	202498773	12	33130										
LRRC41	10489	genome.wustl.edu	37	chr1	46752035	46752035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgttacagatggtgagctgtCggacatggcgggagctgtgc	17	7	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:46752035C>T	ENST00000343304.6	-	4	779	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	165					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGTGAGCTGTCGGACATGGCG	0.567																																																	0													61	63	62					1																	46752035		2203	4300	6503	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.494G>A	1.37:g.46752035C>T	ENSP00000343298:p.Arg165Gln		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R165Q	ENST00000343304.6	37	c.494	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	c	15.17	2.755033	0.49362	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.82711	-1.64	5.08	4.14	0.48551	.	0.523451	0.17507	N	0.171744	T	0.72771	0.3502	N	0.08118	0	0.24823	N	0.992578	P;D;P	0.62365	0.931;0.991;0.815	B;P;B	0.47981	0.112;0.563;0.112	T	0.66842	-0.5821	10	0.40728	T	0.16	-0.3403	14.2858	0.66245	0.0:0.6788:0.3212:0.0	.	165;143;165	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	Q	165;143	ENSP00000343298:R165Q	ENSP00000343298:R165Q	R	-	2	0	LRRC41	46524622	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	2.910000	0.48766	2.389000	0.81357	0.430000	0.28490	CGA	LRRC41	-	NULL		0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	C	NM_006369		46752035	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	missense	SNP	0.996	T	T	46752035	C	T	46752035	3	4	176	1	0	0	0	0	1	0	0	0	9022	884	31	1	1972	1	LRRC41	1	46752035	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	187	46752035	202498586	13	33131										
SLC35D1	23169	genome.wustl.edu	37	chr1	67512952	67512952	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttagattgctacttacttttGaatctaatttttgttttacg	5	5	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:67512952G>A	ENST00000235345.5	-	7	717	c.632C>T	c.(631-633)tCa>tTa	p.S211L	SLC35D1_ENST00000506472.2_Missense_Mutation_p.S132L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	211					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						ACTTACTTTTGAATCTAATTT	0.363																																																	0													154	142	146					1																	67512952		2203	4300	6503	SO:0001583	missense	23169			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.632C>T	1.37:g.67512952G>A	ENSP00000235345:p.Ser211Leu		A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	pfam_DUF250	p.S211L	ENST00000235345.5	37	c.632	CCDS636.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088601	0.76756	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.63913	-0.07;-0.07	5.15	5.15	0.70609	Domain of unknown function DUF250 (1);	0.183014	0.48767	D	0.000163	T	0.59432	0.2193	M	0.86651	2.83	0.80722	D	1	P;B	0.37276	0.589;0.242	B;B	0.38985	0.287;0.213	T	0.63097	-0.6713	10	0.21014	T	0.42	-8.1968	17.7823	0.88527	0.0:0.0:1.0:0.0	.	132;211	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	L	211;132	ENSP00000235345:S211L;ENSP00000445189:S132L	ENSP00000235345:S211L	S	-	2	0	SLC35D1	67285540	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.363000	0.97131	2.567000	0.86603	0.655000	0.94253	TCA	SLC35D1	-	pfam_DUF250		0.363	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	HGNC	protein_coding	OTTHUMT00000025948.1	G	NM_015139		67512952	-1	no_errors	ENST00000235345	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67512952	G	A	67512952	3	1	176	1	0	0	0	0	1	0	0	0	14611	1294	45	1	459	1	SLC35D1	1	67512952	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	20760917	67512952	181737669	14	33132										
C1orf173	127254	genome.wustl.edu	37	chr1	75038033	75038033	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctcagcatcagatcccatttCatttgggggagcttttgtct	9	10	4	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:75038033C>T	ENST00000326665.5	-	14	3579	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1121	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATCCCATTTCATTTGGGGGA	0.448																																																	0													84	91	88					1																	75038033		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.3361G>A	1.37:g.75038033C>T	ENSP00000322609:p.Glu1121Lys		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.E1121K	ENST00000326665.5	37	c.3361	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409327	0.42715	.	.	ENSG00000178965	ENST00000326665	T	0.15017	2.46	5.03	2.88	0.33553	.	.	.	.	.	T	0.04679	0.0127	L	0.40543	1.245	0.29721	N	0.838673	B	0.30851	0.297	B	0.27262	0.078	T	0.36625	-0.9740	9	0.30854	T	0.27	-1.8255	8.7621	0.34680	0.0:0.7809:0.0:0.2191	.	1121	Q5RHP9	CA173_HUMAN	K	1121	ENSP00000322609:E1121K	ENSP00000322609:E1121K	E	-	1	0	C1orf173	74810621	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.918000	0.28678	0.360000	0.24265	0.561000	0.74099	GAA	C1orf173	-	NULL		0.448	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75038033	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.072	T	T	75038033	C	T	75038033	3	4	176	1	0	0	0	0	1	0	0	0	2019	835	29	1	1235	1	C1orf173	1	75038033	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	7525081	75038033	174212588	15	33133										
DENND4B	9909	genome.wustl.edu	37	chr1	153906649	153906649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccacagtgggctgtgcccctCgggcactgcccaggctacca	12	17	0	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:153906649C>T	ENST00000361217.4	-	19	3321	c.2903G>A	c.(2902-2904)cGa>cAa	p.R968Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	968					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTGCCCCTCGGGCACTGCC	0.642																																																	0													11	12	12					1																	153906649		1861	4085	5946	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2903G>A	1.37:g.153906649C>T	ENSP00000354597:p.Arg968Gln		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R968Q	ENST00000361217.4	37	c.2903	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689526	0.29962	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06608	3.28;3.28	4.76	-0.624	0.11552	.	0.854175	0.10179	N	0.706099	T	0.00998	0.0033	N	0.24115	0.695	0.25101	N	0.990789	B	0.06786	0.001	B	0.04013	0.001	T	0.47661	-0.9100	10	0.07175	T	0.84	0.1754	8.5555	0.33478	0.0:0.5395:0.0:0.4605	.	968	O75064	DEN4B_HUMAN	Q	968;979	ENSP00000354597:R968Q;ENSP00000357635:R979Q	ENSP00000354597:R968Q	R	-	2	0	DENND4B	152173273	0.043000	0.20138	0.801000	0.32222	0.997000	0.91878	0.074000	0.14662	-0.275000	0.09219	0.462000	0.41574	CGA	DENND4B	-	NULL		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	C	XM_375806		153906649	-1	no_errors	ENST00000361217	ensembl	human	known	70_37	missense	SNP	0.942	T	T	153906649	C	T	153906649	3	4	176	1	0	0	0	0	1	0	0	0	4444	884	31	1	1627	1	DENND4B	1	153906649	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	78868616	153906649	95343972	16	33134										
DCST1	149095	genome.wustl.edu	37	chr1	155015288	155015288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acgactccctcaaccagtctAttcgtggcctggatggggaa	11	12	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:155015288A>G	ENST00000295542.1	+	9	1066	c.970A>G	c.(970-972)Att>Gtt	p.I324V	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Missense_Mutation_p.I324V|DCST1_ENST00000368419.2_Missense_Mutation_p.I324V|DCST1_ENST00000423025.2_Missense_Mutation_p.I299V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	324						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACCAGTCTATTCGTGGCCT	0.557																																																	0													106	92	97					1																	155015288		2203	4300	6503	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.970A>G	1.37:g.155015288A>G	ENSP00000295542:p.Ile324Val		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.I324V	ENST00000295542.1	37	c.970	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.264336	0.23136	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.22336	1.99;1.96;2.0;1.96	4.77	-3.9	0.04181	.	0.503993	0.18444	N	0.141043	T	0.04861	0.0131	L	0.56769	1.78	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.09377	0.004;0.002;0.004	T	0.41734	-0.9492	10	0.20519	T	0.43	-0.7079	5.6701	0.17717	0.3612:0.2736:0.3653:0.0	.	299;349;324	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	V	324;324;299;324	ENSP00000295542:I324V;ENSP00000376271:I324V;ENSP00000387369:I299V;ENSP00000357404:I324V	ENSP00000295542:I324V	I	+	1	0	DCST1	153281912	0.001000	0.12720	0.014000	0.15608	0.351000	0.29236	-0.500000	0.06405	-0.929000	0.03757	-0.379000	0.06801	ATT	DCST1	-	NULL		0.557	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	A	NM_152494		155015288	1	no_errors	ENST00000295542	ensembl	human	known	70_37	missense	SNP	0.016	G	G	155015288	A	G	155015288	3	3	176	1	0	0	0	0	1	0	0	0	4307	449	16	5	1000	5	DCST1	1	155015288	Missense_Mutation	SNP	A	TCGA-MY-A5BD-01A-11D-A26G-09	1108639	155015288	94235333	17	33135										
OR10J1	26476	genome.wustl.edu	37	chr1	159410128	159410128	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcttctgtgacatccgccctGtgatgaagctctcctgcatt	8	13	3	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:159410128G>T	ENST00000423932.3	+	1	617	c.580G>T	c.(580-582)Gtg>Ttg	p.V194L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	194					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CATCCGCCCTGTGATGAAGCT	0.463																																																	0													240	216	224					1																	159410128		2203	4300	6503	SO:0001583	missense	26476			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.580G>T	1.37:g.159410128G>T	ENSP00000399078:p.Val194Leu		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V194L	ENST00000423932.3	37	c.580	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	G	3.034	-0.198902	0.06219	.	.	ENSG00000196184	ENST00000423932	T	0.00099	8.73	4.18	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002097	T	0.00012	0.0000	N	0.10645	0.015	0.23727	N	0.997003	B	0.13594	0.008	B	0.20184	0.028	T	0.33033	-0.9884	10	0.10111	T	0.7	.	5.3035	0.15791	0.105:0.0:0.6945:0.2006	.	194	P30954	O10J1_HUMAN	L	194	ENSP00000399078:V194L	ENSP00000399078:V194L	V	+	1	0	OR10J1	157676752	0.000000	0.05858	0.369000	0.25952	0.029000	0.11900	-0.543000	0.06084	1.086000	0.41228	-0.142000	0.14014	GTG	OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.463	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	G	NM_012351		159410128	1	no_errors	ENST00000423932	ensembl	human	known	70_37	missense	SNP	0.659	T	T	159410128	G	T	159410128	3	4	176	1	0	0	0	0	1	0	0	0	10934	1377	48	4	582	4	OR10J1	1	159410128	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	4394840	159410128	89840493	18	33136										
HMCN1	83872	genome.wustl.edu	37	chr1	185987424	185987424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgtcaaacacaggcctttatCggtgcatggcagcaaatact	9	10	1	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:185987424C>T	ENST00000271588.4	+	34	5639	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1804W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1804	Ig-like C2-type 15.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGCCTTTATCGGTGCATGGC	0.418																																																	0													143	142	142					1																	185987424		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5410C>T	1.37:g.185987424C>T	ENSP00000271588:p.Arg1804Trp		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R1804W	ENST00000271588.4	37	c.5410	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	c	19.58	3.854092	0.71719	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.78003	-1.14;-1.14	5.89	3.0	0.34707	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.443130	0.26293	N	0.025210	T	0.75852	0.3906	L	0.31120	0.905	0.22896	N	0.998592	D	0.76494	0.999	P	0.59761	0.863	T	0.66044	-0.6021	10	0.62326	D	0.03	.	7.8733	0.29578	0.2391:0.6412:0.0:0.1197	.	1804	Q96RW7	HMCN1_HUMAN	W	1804	ENSP00000271588:R1804W;ENSP00000356462:R1804W	ENSP00000271588:R1804W	R	+	1	2	HMCN1	184254047	0.998000	0.40836	0.979000	0.43373	0.800000	0.45204	3.002000	0.49496	0.394000	0.25230	-0.926000	0.02714	CGG	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		185987424	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.998	T	T	185987424	C	T	185987424	3	4	176	1	0	0	0	0	1	0	0	0	7240	875	31	1	5544	1	HMCN1	1	185987424	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	26577296	185987424	63263197	19	33137										
PHLDA3	23612	genome.wustl.edu	37	chr1	201437750	201437750	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tccacggccttgatgcgggcGaagctgagctccttgggccg	15	13	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:201437750G>A	ENST00000367311.3	-	1	562	c.165C>T	c.(163-165)ttC>ttT	p.F55F	PHLDA3_ENST00000367309.1_Silent_p.F55F|PHLDA3_ENST00000485436.1_5'Flank	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	55	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						TGATGCGGGCGAAGCTGAGCT	0.692																																																	0													33	38	36					1																	201437750		2203	4299	6502	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"pleckstrin homology-like domain, family A, member 2"	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.165C>T	1.37:g.201437750G>A			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.F55	ENST00000367311.3	37	c.165	CCDS1412.1	1																																																																																			PHLDA3	-	smart_Pleckstrin_homology		0.692	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437750	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	1.000	A	A	201437750	G	A	201437750	2	1	176	1	0	0	0	0	0	0	0	1	11874	1049	37	1		1	PHLDA3	1	201437750	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	15450326	201437750	47812871	20	33138										
MFSD4	148808	genome.wustl.edu	37	chr1	205553173	205553173	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggcccctgcttctgtctgctGatgagcttgccttggagaca	12	12	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:205553173G>A	ENST00000367147.4	+	4	874	c.781G>A	c.(781-783)Gat>Aat	p.D261N	MFSD4_ENST00000536357.1_Missense_Mutation_p.D174N|MFSD4_ENST00000539267.1_Missense_Mutation_p.D261N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	261					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTGTCTGCTGATGAGCTTGC	0.587																																																	0													76	76	76					1																	205553173		2203	4300	6503	SO:0001583	missense	148808			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.781G>A	1.37:g.205553173G>A	ENSP00000356115:p.Asp261Asn		B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.D261N	ENST00000367147.4	37	c.781	CCDS1455.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971377	0.92919	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	D;D;D	0.82081	-1.57;-1.57;-1.57	5.57	5.57	0.84162	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90010	0.6881	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	D;P;D	0.70935	0.947;0.889;0.971	D	0.86976	0.2101	10	0.20046	T	0.44	-27.474	18.1107	0.89534	0.0:0.0:1.0:0.0	.	206;174;261	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	N	261;261;174	ENSP00000356115:D261N;ENSP00000445329:D261N;ENSP00000440183:D174N	ENSP00000356115:D261N	D	+	1	0	MFSD4	203819796	1.000000	0.71417	0.637000	0.29366	0.928000	0.56348	9.246000	0.95438	2.619000	0.88677	0.561000	0.74099	GAT	MFSD4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.587	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	HGNC	protein_coding	OTTHUMT00000090391.1	G	NM_181644		205553173	1	no_errors	ENST00000367147	ensembl	human	known	70_37	missense	SNP	1.000	A	A	205553173	G	A	205553173	3	1	176	1	0	0	0	0	1	0	0	0	9556	1290	45	1	795	1	MFSD4	1	205553173	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	4115423	205553173	43697448	21	33139										
ELK4	2005	genome.wustl.edu	37	chr1	205588167	205588167	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tactccagaagtggatactgGagagcaaggggcttggagtc	15	7	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:205588167G>C	ENST00000357992.4	-	4	1454	c.1115C>G	c.(1114-1116)tCc>tGc	p.S372C	ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	372					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GTGGATACTGGAGAGCAAGGG	0.433			T	SLC45A3	prostate																																			Dom	yes		1	1q32	2005	"ELK4, ETS-domain protein (SRF accessory protein 1)"		E	0													99	93	95					1																	205588167		2203	4300	6503	SO:0001583	missense	2005			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.1115C>G	1.37:g.205588167G>C	ENSP00000350681:p.Ser372Cys		P28323|Q6GSJ2	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S372C	ENST00000357992.4	37	c.1115	CCDS1456.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029107	0.93518	.	.	ENSG00000158711	ENST00000539916;ENST00000357992	T	0.51071	0.72	5.57	5.57	0.84162	.	0.096495	0.85682	D	0.000000	T	0.68329	0.2989	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70223	-0.4931	10	0.72032	D	0.01	.	18.1177	0.89561	0.0:0.0:1.0:0.0	.	372	P28324	ELK4_HUMAN	C	462;372	ENSP00000350681:S372C	ENSP00000350681:S372C	S	-	2	0	ELK4	203854790	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.633000	0.89246	0.563000	0.77884	TCC	ELK4	-	NULL		0.433	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK4	HGNC	protein_coding	OTTHUMT00000090615.1	G	NM_021795		205588167	-1	no_errors	ENST00000357992	ensembl	human	known	70_37	missense	SNP	1.000	C	C	205588167	G	C	205588167	3	2	176	1	0	0	0	0	1	0	0	0	5073	1174	41	1	188	1	ELK4	1	205588167	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	34994	205588167	43662454	22	33140										
LAMB3	3914	genome.wustl.edu	37	chr1	209788694	209788694	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acacgcttctccagtcctgtCaggtccgctgagcgcagcat	10	15	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:209788694C>T	ENST00000356082.4	-	23	3575	c.3441G>A	c.(3439-3441)ctG>ctA	p.L1147L	LAMB3_ENST00000391911.1_Silent_p.L1147L|LAMB3_ENST00000367030.3_Silent_p.L1147L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1147	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCAGTCCTGTCAGGTCCGCTG	0.592																																																	0													125	100	108					1																	209788694		2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3441G>A	1.37:g.209788694C>T			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1147	ENST00000356082.4	37	c.3441	CCDS1487.1	1																																																																																			LAMB3	-	NULL		0.592	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209788694	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	silent	SNP	0.946	T	T	209788694	C	T	209788694	2	4	176	1	0	0	0	0	0	0	0	1	8632	813	29	1		1	LAMB3	1	209788694	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	4200527	209788694	39461927	23	33141										
TRAF3IP3	80342	genome.wustl.edu	37	chr1	209953918	209953918	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctcagagaccagctgcaaaaGaagactttgcagctccaggc	10	12	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:209953918G>A	ENST00000367024.1	+	15	1932	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	TRAF3IP3_ENST00000010338.4_Silent_p.K452K|TRAF3IP3_ENST00000367025.3_Silent_p.K472K|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Silent_p.K452K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	472						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGCTGCAAAAGAAGACTTTGC	0.532																																																	0													81	83	82					1																	209953918		2203	4300	6503	SO:0001819	synonymous_variant	80342				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1416G>A	1.37:g.209953918G>A			A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	NULL	p.K472	ENST00000367024.1	37	c.1416	CCDS1490.2	1																																																																																			TRAF3IP3	-	NULL		0.532	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	G			209953918	1	no_errors	ENST00000367024	ensembl	human	known	70_37	silent	SNP	1.000	A	A	209953918	G	A	209953918	2	1	176	1	0	0	0	0	0	0	0	1	16473	933	33	1		1	TRAF3IP3	1	209953918	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	165224	209953918	39296703	24	33142										
HLX	3142	genome.wustl.edu	37	chr1	221053615	221053615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gccgcagcagcaacagcctcCgcctccgccccgggctggcg	13	20	0	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:221053615C>T	ENST00000366903.6	+	1	1917	c.416C>T	c.(415-417)cCg>cTg	p.P139L	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	139	Pro-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		caacagcCTCCGCCTCCGCCC	0.711																																																	0													14	21	18					1																	221053615		2184	4271	6455	SO:0001583	missense	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.416C>T	1.37:g.221053615C>T	ENSP00000355870:p.Pro139Leu		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.P139L	ENST00000366903.6	37	c.416	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953396	0.34471	.	.	ENSG00000136630	ENST00000366903	T	0.28895	1.59	4.25	3.34	0.38264	.	0.111474	0.37136	N	0.002230	T	0.10551	0.0258	N	0.08118	0	0.22112	N	0.999358	P	0.40083	0.702	B	0.30495	0.116	T	0.20638	-1.0269	10	0.10377	T	0.69	-10.5362	7.9055	0.29759	0.0:0.7456:0.1621:0.0922	.	139	Q14774	HLX_HUMAN	L	139	ENSP00000355870:P139L	ENSP00000355870:P139L	P	+	2	0	HLX	219120238	0.001000	0.12720	0.023000	0.16930	0.054000	0.15201	0.484000	0.22308	1.011000	0.39340	-0.191000	0.12829	CCG	HLX	-	NULL		0.711	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	C	NM_021958		221053615	1	no_errors	ENST00000366903	ensembl	human	known	70_37	missense	SNP	0.048	T	T	221053615	C	T	221053615	3	4	176	1	0	0	0	0	1	0	0	0	7236	652	23	2	418	2	HLX	1	221053615	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	11099697	221053615	28197006	25	33143										
TAF1A	9015	genome.wustl.edu	37	chr1	222732050	222732050	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tttttcacagatctcttcatCcgcttaattttcttccctaa	2	12	4	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:222732050C>T	ENST00000352967.4	-	11	1493	c.1305G>A	c.(1303-1305)cgG>cgA	p.R435R	TAF1A_ENST00000391882.1_Silent_p.R321R|TAF1A_ENST00000366890.1_Silent_p.R321R|TAF1A_ENST00000350027.4_Silent_p.R435R	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	435					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATCTCTTCATCCGCTTAATTT	0.303																																																	0													83	85	84					1																	222732050		2201	4285	6486	SO:0001819	synonymous_variant	9015			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1305G>A	1.37:g.222732050C>T			B2RDZ8|D3DTB7|Q9NWA1	Silent	SNP	pirsf_RNA_pol_I_TAF1A/TAFI48	p.R435	ENST00000352967.4	37	c.1305	CCDS1531.1	1																																																																																			TAF1A	-	pirsf_RNA_pol_I_TAF1A/TAFI48		0.303	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1A	HGNC	protein_coding	OTTHUMT00000091493.2	C	NM_005681		222732050	-1	no_errors	ENST00000350027	ensembl	human	known	70_37	silent	SNP	0.347	T	T	222732050	C	T	222732050	2	4	176	1	0	0	0	0	0	0	0	1	15549	842	30	1		1	TAF1A	1	222732050	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1678435	222732050	26518571	26	33144										
MIA3	375056	genome.wustl.edu	37	chr1	222826431	222826431	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	catttgagaagtctcagaaaGatttggaagtagctcttact	9	6	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:222826431G>C	ENST00000344922.5	+	14	4193	c.4168G>C	c.(4168-4170)Gat>Cat	p.D1390H	MIA3_ENST00000340535.7_Missense_Mutation_p.D268H|MIA3_ENST00000344441.6_Missense_Mutation_p.D1390H|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1390					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTCTCAGAAAGATTTGGAAGT	0.338																																																	0													108	96	100					1																	222826431		1838	4093	5931	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4168G>C	1.37:g.222826431G>C	ENSP00000340900:p.Asp1390His		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.D1390H	ENST00000344922.5	37	c.4168	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.478397|3.478397	0.63849|0.63849	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000354906	T;T;T|.	0.71817|.	-0.6;-0.6;1.14|.	5.8|5.8	4.87|4.87	0.63330|0.63330	.|.	.|.	.|.	.|.	.|.	T|T	0.72358|0.72358	0.3450|0.3450	M|M	0.71036|0.71036	2.16|2.16	0.38830|0.38830	D|D	0.95583|0.95583	D;P;D|.	0.89917|.	1.0;0.734;0.994|.	D;B;P|.	0.71870|.	0.975;0.275;0.804|.	T|T	0.74444|0.74444	-0.3663|-0.3663	9|5	0.22706|.	T|.	0.39|.	.|.	14.0485|14.0485	0.64719|0.64719	0.0752:0.0:0.9247:0.0|0.0752:0.0:0.9247:0.0	.|.	1331;268;1390|.	Q5JRA6-2;Q5JRA6-4;Q5JRA6|.	.;.;MIA3_HUMAN|.	H|T	1390;1390;1331;268;268|913	ENSP00000340900:D1390H;ENSP00000340587:D1390H;ENSP00000345866:D268H|.	ENSP00000284471:D268H|.	D|R	+|+	1|2	0|0	MIA3|MIA3	220893054|220893054	1.000000|1.000000	0.71417|0.71417	0.150000|0.150000	0.22450|0.22450	0.944000|0.944000	0.59088|0.59088	4.730000|4.730000	0.62015|0.62015	1.379000|1.379000	0.46325|0.46325	0.557000|0.557000	0.71058|0.71058	GAT|AGA	MIA3	-	NULL		0.338	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222826431	1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	1.000	C	C	222826431	G	C	222826431	3	2	176	1	0	0	0	0	1	0	0	0	9588	942	33	1	4222	1	MIA3	1	222826431	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	94381	222826431	26424190	27	33145										
LBR	3930	genome.wustl.edu	37	chr1	225606999	225606999	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aactccaagtcctttgcccgGatgggggtcacttcaaaggt	11	11	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:225606999G>A	ENST00000338179.2	-	5	731	c.606C>T	c.(604-606)atC>atT	p.I202I	LBR_ENST00000272163.4_Silent_p.I202I|LBR_ENST00000487054.1_5'UTR	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	202					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CCTTTGCCCGGATGGGGGTCA	0.498																																																	0													87	93	91					1																	225606999		2203	4300	6503	SO:0001819	synonymous_variant	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.606C>T	1.37:g.225606999G>A			B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.I202	ENST00000338179.2	37	c.606	CCDS1545.1	1																																																																																			LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.498	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	G	NM_002296		225606999	-1	no_errors	ENST00000272163	ensembl	human	known	70_37	silent	SNP	0.000	A	A	225606999	G	A	225606999	2	1	176	1	0	0	0	0	0	0	0	1	8672	1164	41	1		1	LBR	1	225606999	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2780568	225606999	23643622	28	33146										
GJC2	57165	genome.wustl.edu	37	chr1	228345731	228345731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgtggtcatctccacgccctCggtcatgtacctgggctacg	11	14	3	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228345731C>T	ENST00000366714.2	+	2	447	c.272C>T	c.(271-273)tCg>tTg	p.S91L		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	91					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCCACGCCCTCGGTCATGTAC	0.726																																																	0													41	34	37					1																	228345731		2203	4300	6503	SO:0001583	missense	57165			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.272C>T	1.37:g.228345731C>T	ENSP00000355675:p.Ser91Leu		O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.S91L	ENST00000366714.2	37	c.272	CCDS1569.1	1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819147	0.50633	.	.	ENSG00000198835	ENST00000366714	D	0.99194	-5.54	4.06	3.13	0.36017	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99093	0.9688	M	0.88640	2.97	0.53688	D	0.999976	D	0.64830	0.994	P	0.58172	0.834	D	0.99187	1.0869	10	0.87932	D	0	.	13.1743	0.59617	0.1603:0.8397:0.0:0.0	.	91	Q5T442	CXG2_HUMAN	L	91	ENSP00000355675:S91L	ENSP00000355675:S91L	S	+	2	0	GJC2	226412354	1.000000	0.71417	0.003000	0.11579	0.092000	0.18411	4.502000	0.60400	0.904000	0.36572	0.313000	0.20887	TCG	GJC2	-	pfam_Connexin_N,prints_Connexin		0.726	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC2	HGNC	protein_coding	OTTHUMT00000095985.1	C	NM_020435		228345731	1	no_errors	ENST00000366714	ensembl	human	known	70_37	missense	SNP	0.731	T	T	228345731	C	T	228345731	3	4	176	1	0	0	0	0	1	0	0	0	6434	893	31	1	274	1	GJC2	1	228345731	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2738732	228345731	20904890	29	33147										
OBSCN	84033	genome.wustl.edu	37	chr1	228558866	228558866	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctccagttcctcctcctcctCtgacaacgagctcgccccat	5	20	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228558866C>G	ENST00000422127.1	+	94	20431	c.20387C>G	c.(20386-20388)tCt>tGt	p.S6796C	OBSCN_ENST00000570156.2_Missense_Mutation_p.S7753C|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4430C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6796	Poly-Ser.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCTCCTCCTCTGACAACGAG	0.692																																																	0													23	29	27					1																	228558866		2081	4204	6285	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20387C>G	1.37:g.228558866C>G	ENSP00000409493:p.Ser6796Cys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S6796C	ENST00000422127.1	37	c.20387	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178960	0.57692	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.65178	-0.14;-0.08	4.65	4.65	0.58169	.	.	.	.	.	T	0.76644	0.4016	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79107	-0.1939	9	0.66056	D	0.02	.	17.734	0.88387	0.0:1.0:0.0:0.0	.	6796	Q5VST9	OBSCN_HUMAN	C	6796;4430	ENSP00000409493:S6796C;ENSP00000355668:S4430C	ENSP00000355668:S4430C	S	+	2	0	OBSCN	226625489	1.000000	0.71417	0.908000	0.35775	0.057000	0.15508	7.444000	0.80532	2.417000	0.82017	0.555000	0.69702	TCT	OBSCN	-	NULL		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228558866	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	G	G	228558866	C	G	228558866	3	3	176	1	0	0	0	0	1	0	0	0	10836	913	32	1	21967	1	OBSCN	1	228558866	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	213135	228558866	20691755	30	33148			1	135		4	4	1050	C		1.533464e-07
OBSCN	84033	genome.wustl.edu	37	chr1	228559531	228559531	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtggccacccaggcactgctCagccagagaggccatccccg	12	17	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228559531C>T	ENST00000422127.1	+	94	21096	c.21052C>T	c.(21052-21054)Cag>Tag	p.Q7018*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q7975*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q4652*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7018	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCACTGCTCAGCCAGAGAG	0.701																																																	0													15	18	17					1																	228559531		1974	4134	6108	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21052C>T	1.37:g.228559531C>T	ENSP00000409493:p.Gln7018*		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.Q7018*	ENST00000422127.1	37	c.21052	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.942034|83.942034	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	.|.	.|.	.|.	4.2|4.2	-0.412|-0.412	0.12367|0.12367	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31670	.|0.0804	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30736	.|-0.9968	.|4	0.06236|.	T|.	0.91|.	.|.	7.743|7.743	0.28851|0.28851	0.4762:0.3782:0.1456:0.0|0.4762:0.3782:0.1456:0.0	.|.	.|.	.|.	.|.	X|L	7018;4652|1634	.|.	ENSP00000355668:Q4652X|.	Q|S	+|+	1|2	0|0	OBSCN|OBSCN	226626154|226626154	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.048000|0.048000	0.14542|0.14542	-0.466000|-0.466000	0.06672|0.06672	0.056000|0.056000	0.16144|0.16144	0.555000|0.555000	0.69702|0.69702	CAG|TCA	OBSCN	-	NULL		0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228559531	1	no_errors	ENST00000422127	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	228559531	C	T	228559531	4	4	176	1	0	0	0	0	0	1	0	0	10836	827	29	1	22632	1	OBSCN	1	228559531	Nonsense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	665	228559531	20691090	31	33149			1	135		4	4	1050	C		1.533464e-07
OBSCN	84033	genome.wustl.edu	37	chr1	228559700	228559700	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agaggcccccttagtaccctCaagccccttcttgggacagc	9	16	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228559700C>T	ENST00000422127.1	+	94	21265	c.21221C>T	c.(21220-21222)tCa>tTa	p.S7074L	OBSCN_ENST00000570156.2_Missense_Mutation_p.S8031L|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4708L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7074	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTAGTACCCTCAAGCCCCTTC	0.647																																																	0													37	40	39					1																	228559700		1857	4088	5945	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21221C>T	1.37:g.228559700C>T	ENSP00000409493:p.Ser7074Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S7074L	ENST00000422127.1	37	c.21221	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702312	0.48307	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62364	0.03;0.09	3.7	-5.28	0.02755	.	.	.	.	.	T	0.33818	0.0876	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27872	-1.0061	9	0.09843	T	0.71	.	3.357	0.07173	0.2417:0.214:0.4459:0.0984	.	7074	Q5VST9	OBSCN_HUMAN	L	7074;4708	ENSP00000409493:S7074L;ENSP00000355668:S4708L	ENSP00000355668:S4708L	S	+	2	0	OBSCN	226626323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.820000	0.01714	-0.794000	0.04468	0.555000	0.69702	TCA	OBSCN	-	NULL		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228559700	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.000	T	T	228559700	C	T	228559700	3	4	176	1	0	0	0	0	1	0	0	0	10836	838	29	1	22801	1	OBSCN	1	228559700	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	169	228559700	20690921	32	33150			1	135		4	4	1050	C		1.533464e-07
OBSCN	84033	genome.wustl.edu	37	chr1	228559915	228559915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcacagagcctggcccctccCtggatgcggagggctggacc	15	15	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228559915C>A	ENST00000422127.1	+	94	21480	c.21436C>A	c.(21436-21438)Ctg>Atg	p.L7146M	OBSCN_ENST00000570156.2_Missense_Mutation_p.L8103M|OBSCN_ENST00000366707.4_Missense_Mutation_p.L4780M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7146					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCCCTCCCTGGATGCGGA	0.672																																																	0													9	11	10					1																	228559915		1982	4131	6113	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21436C>A	1.37:g.228559915C>A	ENSP00000409493:p.Leu7146Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L7146M	ENST00000422127.1	37	c.21436	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.44|16.44	3.122920|3.122920	0.56613|0.56613	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.63580|.	-0.05;0.0|.	4.21|4.21	1.02|1.02	0.19986|0.19986	.|.	.|.	.|.	.|.	.|.	T|T	0.22898|0.22898	0.0553|0.0553	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44578|.	0.838|.	B|.	0.41691|.	0.364|.	T|T	0.22556|0.22556	-1.0213|-1.0213	9|5	0.48119|.	T|.	0.1|.	.|.	4.0839|4.0839	0.09939|0.09939	0.0:0.556:0.2128:0.2312|0.0:0.556:0.2128:0.2312	.|.	7146|.	Q5VST9|.	OBSCN_HUMAN|.	M|H	7146;4780|1762	ENSP00000409493:L7146M;ENSP00000355668:L4780M|.	ENSP00000355668:L4780M|.	L|P	+|+	1|2	2|0	OBSCN|OBSCN	226626538|226626538	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.015000|0.015000	0.08874|0.08874	0.052000|0.052000	0.14163|0.14163	0.421000|0.421000	0.25980|0.25980	0.555000|0.555000	0.69702|0.69702	CTG|CCT	OBSCN	-	NULL		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228559915	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.000	A	A	228559915	C	A	228559915	3	1	176	1	0	0	0	0	1	0	0	0	10836	680	24	4	23016	4	OBSCN	1	228559915	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	215	228559915	20690706	33	33151			1	135		4	4	1050	C		1.533464e-07
MEMO1	51072	genome.wustl.edu	37	chr2	32095023	32095024	+	Splice_Site	INS	-	-	A													0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttctataatactcataccctINSaaaaaaaaaaaaaaagaaga					rs76850690		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:32095023_32095024insA	ENST00000295065.5	-	8	967		c.e8-2		MEMO1_ENST00000404530.1_Splice_Site|MEMO1_ENST00000426310.2_Splice_Site|MEMO1_ENST00000490459.1_Splice_Site|DPY30_ENST00000446765.1_Splice_Site|MEMO1_ENST00000379383.3_Splice_Site	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1						regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ACTCATACCCTaaaaaaaaaaa	0.252																																																	0																																										SO:0001630	splice_region_variant	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"chromosome 2 open reading frame 4"	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.658-2->T	2.37:g.32095034_32095034dupA			B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Splice_Site	INS	-	e8-2	ENST00000295065.5	37	c.667-3_667-2	CCDS1776.1	2																																																																																			MEMO1	-	-		0.252	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEMO1	HGNC	protein_coding	OTTHUMT00000250251.2	-	NM_015955	Intron	32095024	-1	no_errors	ENST00000379383	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.998	A	A	32095024	-	A	32095023	8	5	176	1	0	1	1	0	0	0	1	0	9494	1536	53	0	245	0	MEMO1	2	32095023	Splice_Site	INS	-	TCGA-MY-A5BD-01A-11D-A26G-09		32095023	211104350	34	33152										
STRN	6801	genome.wustl.edu	37	chr2	37096817	37096817	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggatgccatcaaagtgacttCtcaatgtaaacttagggttc	9	8	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:37096817C>T	ENST00000263918.4	-	11	1387	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	RNU6-577P_ENST00000516947.1_RNA|STRN_ENST00000379213.2_Missense_Mutation_p.R411K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	460					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AAAGTGACTTCTCAATGTAAA	0.368																																																	0													146	113	124					2																	37096817		2203	4300	6503	SO:0001583	missense	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1379G>A	2.37:g.37096817C>T	ENSP00000263918:p.Arg460Lys		Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R460K	ENST00000263918.4	37	c.1379	CCDS1784.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.693176	0.96793	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.59906	0.23;0.23	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	N	0.21324	0.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66456	-0.5919	10	0.41790	T	0.15	-17.8684	18.9244	0.92538	0.0:1.0:0.0:0.0	.	411;460	O43815-2;O43815	.;STRN_HUMAN	K	460;435;411	ENSP00000263918:R460K;ENSP00000368513:R411K	ENSP00000263918:R460K	R	-	2	0	STRN	36950321	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.809000	0.86057	2.466000	0.83321	0.585000	0.79938	AGA	STRN	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.368	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	C			37096817	-1	no_errors	ENST00000263918	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37096817	C	T	37096817	3	4	176	1	0	0	0	0	1	0	0	0	15359	913	32	1	995	1	STRN	2	37096817	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	5001794	37096817	206102556	35	33153										
C2orf56	55471	genome.wustl.edu	37	chr2	37473261	37473261	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttatcatcgaggaactttctCaacgcattgcattaactgga	7	9	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:37473261C>T	ENST00000002125.4	+	8	899	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Nonsense_Mutation_p.Q189*	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	287					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										GGAACTTTCTCAACGCATTGC	0.413																																																	0													208	165	180					2																	37473261		2203	4300	6503	SO:0001587	stop_gained	55471				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"Mitochondrial respiratory chain complex assembly factors"	28816	protein-coding gene	gene with protein product	"mitochondrial dysfunction protein A homolog"	615898	"chromosome 2 open reading frame 56"	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.859C>T	2.37:g.37473261C>T	ENSP00000002125:p.Gln287*		Q7Z399|Q9P1G3	Nonsense_Mutation	SNP	pfam_MidA	p.Q287*	ENST00000002125.4	37	c.859	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411100	0.42817	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000439218	.	.	.	5.67	0.353	0.16058	.	0.514786	0.22285	N	0.062066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-5.9489	6.4356	0.21821	0.1918:0.3575:0.3849:0.0657	.	.	.	.	X	287;189;208;245	.	ENSP00000002125:Q287X	Q	+	1	0	C2orf56	37326765	0.000000	0.05858	0.831000	0.32960	0.539000	0.34962	-0.503000	0.06383	0.314000	0.23086	-0.127000	0.14921	CAA	NDUFAF7	-	pfam_MidA		0.413	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF7	HGNC	protein_coding	OTTHUMT00000250267.1	C	NM_144736		37473261	1	no_errors	ENST00000002125	ensembl	human	known	70_37	nonsense	SNP	0.003	T	T	37473261	C	T	37473261	4	4	176	1	0	0	0	0	0	1	0	0	2182	827	29	1	889	1	C2orf56	2	37473261	Nonsense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	376444	37473261	205726112	36	33154										
ABCG5	64240	genome.wustl.edu	37	chr2	44051360	44051360	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	catttgtgagcctcttacctCaggagaacacccagtttaga	8	11	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:44051360C>A	ENST00000260645.1	-	8	1255	c.1116G>T	c.(1114-1116)ctG>ctT	p.L372L	ABCG5_ENST00000405322.1_Silent_p.L201L|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	372					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCTCTTACCTCAGGAGAACAC	0.383																																																	0													84	86	85					2																	44051360		2203	4300	6503	SO:0001819	synonymous_variant	64240			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1116G>T	2.37:g.44051360C>A			Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L372	ENST00000260645.1	37	c.1116	CCDS1814.1	2																																																																																			ABCG5	-	pfam_ABC_2_trans		0.383	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1	C	NM_022436		44051360	-1	no_errors	ENST00000260645	ensembl	human	known	70_37	silent	SNP	0.996	A	A	44051360	C	A	44051360	2	1	176	1	0	0	0	0	0	0	0	1	71	813	29	3		3	ABCG5	2	44051360	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	6578099	44051360	199148013	37	33155										
SMEK2	57223	genome.wustl.edu	37	chr2	55826043	55826043	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggtaactaagtcagcaatctCttcaagtttattgagttcac	7	8	4	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:55826043C>A	ENST00000345102.5	-	4	731	c.430G>T	c.(430-432)Gag>Tag	p.E144*	SMEK2_ENST00000272313.5_Nonsense_Mutation_p.E144*|SMEK2_ENST00000407823.3_Nonsense_Mutation_p.E144*	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	144					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCAGCAATCTCTTCAAGTTTA	0.413																																																	0													165	172	170					2																	55826043		2203	4300	6503	SO:0001587	stop_gained	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.430G>T	2.37:g.55826043C>A	ENSP00000339769:p.Glu144*		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Nonsense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E144*	ENST00000345102.5	37	c.430	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.640081	0.97726	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-10.6275	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000272313:E144X	E	-	1	0	SMEK2	55679547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	GAG	SMEK2	-	NULL		0.413	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	C	NM_020463		55826043	-1	no_errors	ENST00000272313	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55826043	C	A	55826043	4	1	176	1	0	0	0	0	0	1	0	0	14824	922	32	3	2175	3	SMEK2	2	55826043	Nonsense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	11774683	55826043	187373330	38	33156										
NAT8	9027	genome.wustl.edu	37	chr2	73868749	73868749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtatttgcggatgtgacaagGagccatggacagacttctgt	13	7	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:73868749G>A	ENST00000272425.3	-	2	156	c.7C>T	c.(7-9)Cct>Tct	p.P3S		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						ATGTGACAAGGAGCCATGGAC	0.572																																																	0													48	55	52					2																	73868749		2180	4288	6468	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.7C>T	2.37:g.73868749G>A	ENSP00000272425:p.Pro3Ser			Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.P3S	ENST00000272425.3	37	c.7	CCDS1926.1	2	.	.	.	.	.	.	.	.	.	.	G	5.518	0.280597	0.10458	.	.	ENSG00000144035	ENST00000272425	T	0.30182	1.54	3.86	1.98	0.26296	Acyl-CoA N-acyltransferase (1);	0.667620	0.14807	N	0.297250	T	0.23806	0.0576	L	0.45581	1.43	0.23473	N	0.997609	P	0.40909	0.732	B	0.40901	0.343	T	0.09400	-1.0676	10	0.30854	T	0.27	-5.7149	4.1488	0.10228	0.2106:0.0:0.6068:0.1826	.	3	Q9UHE5	NAT8_HUMAN	S	3	ENSP00000272425:P3S	ENSP00000272425:P3S	P	-	1	0	NAT8	73722257	0.007000	0.16637	0.965000	0.40720	0.054000	0.15201	-0.184000	0.09698	0.365000	0.24400	0.644000	0.83932	CCT	NAT8	-	NULL		0.572	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8	HGNC	protein_coding	OTTHUMT00000327854.1	G	NM_003960		73868749	-1	no_errors	ENST00000272425	ensembl	human	known	70_37	missense	SNP	0.514	A	A	73868749	G	A	73868749	3	1	176	1	0	0	0	0	1	0	0	0	10202	1174	41	1	680	1	NAT8	2	73868749	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	18042706	73868749	169330624	39	33157										
PLGLB1	5343	genome.wustl.edu	37	chr2	87248858	87248858	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttaaaaaaactatgtcttacCtgatttcagaaataaaagaa	4	5	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:87248858C>A	ENST00000355705.3	-	1	117	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C	PLGLB1_ENST00000409310.2_Splice_Site_p.G17C	NM_001032392.2	NP_001027564.1	Q02325	PLGB_HUMAN	plasminogen-like B1	17						extracellular region (GO:0005576)				large_intestine(1)	1						TATGTCTTACCTGATTTCAGA	0.348																																																	0													1	2	1					2																	87248858		204	798	1002	SO:0001630	splice_region_variant	5343			M86874, M86875, M86876	CCDS33238.1	2p11.2	2008-02-05	2005-03-31	2005-03-31	ENSG00000183281	ENSG00000183281			9072	protein-coding gene	gene with protein product		173340	"plasminogen-like"	PLGL		1554698, 2714803	Standard	NM_001032392		Approved	PRP-B		Q02325	OTTHUMG00000154612	ENST00000355705.3:c.49+1G>T	2.37:g.87248858C>A			Q580R1	Missense_Mutation	SNP	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app	p.G17C	ENST00000355705.3	37	c.49	CCDS33238.1	2	.	.	.	.	.	.	.	.	.	.	c	14.05	2.419280	0.42918	.	.	ENSG00000183281	ENST00000409310;ENST00000355705	T;T	0.64618	-0.11;-0.11	1.13	1.13	0.20643	Apple-like (1);	.	.	.	.	T	0.71888	0.3393	.	.	.	0.28872	N	0.894883	D	0.89917	1.0	D	0.91635	0.999	T	0.60964	-0.7158	7	.	.	.	.	5.651	0.17616	0.0:1.0:0.0:0.0	.	17	Q02325	PLGB_HUMAN	C	17	ENSP00000386505:G17C;ENSP00000347933:G17C	.	G	-	1	0	PLGLB1	87102369	1.000000	0.71417	0.949000	0.38748	0.422000	0.31414	1.761000	0.38440	0.921000	0.36994	0.184000	0.17185	GGT	PLGLB1	-	pfscan_Pan_app		0.348	PLGLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLGLB1	HGNC	protein_coding	OTTHUMT00000330379.1	C		Missense_Mutation	87248858	-1	no_errors	ENST00000355705	ensembl	human	known	70_37	missense	SNP	0.975	A	A	87248858	C	A	87248858	5	1	176	1	0	0	0	0	0	0	1	0	12111	695	24	4	253	4	PLGLB1	2	87248858	Splice_Site	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	13380109	87248858	155950515	40	33158										
RGPD1	729857	genome.wustl.edu	37	chr2	88071757	88071757	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	catcgtatttataacaggaaGaaggctctctctctcactac	6	11	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:88071757G>A	ENST00000398146.3	-	22	5389	c.5167C>T	c.(5167-5169)Ctt>Ttt	p.L1723F	RGPD2_ENST00000420840.2_Missense_Mutation_p.L1715F|RGPD2_ENST00000327544.6_Missense_Mutation_p.L980F			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1723	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						ATAACAGGAAGAAGGCTCTCT	0.463																																																	0													2	2	2					2																	88071757		649	1575	2224	SO:0001583	missense	729857				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.5167C>T	2.37:g.88071757G>A	ENSP00000381214:p.Leu1723Phe		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L1723F	ENST00000398146.3	37	c.5167	CCDS42710.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.00|12.00	1.807312|1.807312	0.31961|0.31961	.|.	.|.	ENSG00000185304|ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000327544|ENST00000469984	T;T;T|.	0.50548|.	0.74;0.74;1.87|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45155|0.45155	0.1328|0.1328	M|M	0.73372|0.73372	2.23|2.23	0.24816|0.24816	N|N	0.992614|0.992614	D|.	0.69078|.	0.997|.	D|.	0.74023|.	0.982|.	T|T	0.39941|0.39941	-0.9589|-0.9589	8|4	0.87932|.	D|.	0|.	-0.7016|-0.7016	5.844|5.844	0.18652|0.18652	9.0E-4:0.0:0.9991:0.0|9.0E-4:0.0:0.9991:0.0	.|.	1723|.	B4DYH0|.	.|.	F|F	1723;1715;980|633	ENSP00000381214:L1723F;ENSP00000413275:L1715F;ENSP00000332727:L980F|.	ENSP00000332727:L980F|.	L|S	-|-	1|2	0|0	RGPD2|RGPD2	87852872|87852872	1.000000|1.000000	0.71417|0.71417	0.155000|0.155000	0.22561|0.22561	0.155000|0.155000	0.21991|0.21991	1.907000|1.907000	0.39897|0.39897	0.064000|0.064000	0.16427|0.16427	0.064000|0.064000	0.15345|0.15345	CTT|TCT	RGPD2	-	pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP		0.463	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	G	NM_001078170		88071757	-1	no_errors	ENST00000398146	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88071757	G	A	88071757	3	1	176	1	0	0	0	0	1	0	0	0	13315	942	33	1	5450	1	RGPD1	2	88071757	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	822899	88071757	155127616	41	33159										
ATF2	1386	genome.wustl.edu	37	chr2	175957892	175957892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttgaagctgctgctctatttCgctctaaaaactttctcctt	5	11	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:175957892C>T	ENST00000264110.2	-	12	1380	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	ATF2_ENST00000426833.3_Missense_Mutation_p.R343Q|ATF2_ENST00000538946.1_Missense_Mutation_p.R343Q|ATF2_ENST00000409437.1_Missense_Mutation_p.R245Q|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.R361Q|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.R303Q|ATF2_ENST00000409635.1_Missense_Mutation_p.R303Q	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	361	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	TGCTCTATTTCGCTCTAAAAA	0.438																																					Pancreas(17;87 705 4534 15538 30988)												0													136	126	129					2																	175957892		2203	4300	6503	SO:0001583	missense	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1082G>A	2.37:g.175957892C>T	ENSP00000264110:p.Arg361Gln		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.R361Q	ENST00000264110.2	37	c.1082	CCDS2262.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.582525|5.582525	0.96578|0.96578	.|.	.|.	ENSG00000115966|ENSG00000115966	ENST00000435004|ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	.|T;T;T;T;T;T;T	.|0.57595	.|0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82006|0.82006	0.4943|0.4943	H|H	0.95816|0.95816	3.725|3.725	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.988;1.0;1.0;0.999	D|D	0.87212|0.87212	0.2248|0.2248	5|10	.|0.87932	.|D	.|0	-24.4645|-24.4645	19.4961|19.4961	0.95073|0.95073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|343;338;303;361	.|A4D7U4;B3KY57;Q3B7B7;P15336	.|.;.;.;ATF2_HUMAN	K|Q	190|361;303;338;245;303;361;343;343	.|ENSP00000264110:R361Q;ENSP00000340576:R303Q;ENSP00000386326:R245Q;ENSP00000387093:R303Q;ENSP00000376327:R361Q;ENSP00000407911:R343Q;ENSP00000437952:R343Q	.|ENSP00000264110:R361Q	E|R	-|-	1|2	0|0	ATF2|ATF2	175666138|175666138	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.984000|0.984000	0.73092|0.73092	7.440000|7.440000	0.80464|0.80464	2.601000|2.601000	0.87937|0.87937	0.557000|0.557000	0.71058|0.71058	GAA|CGA	ATF2	-	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP		0.438	ATF2-001	KNOWN	basic|CCDS	protein_coding	ATF2	HGNC	protein_coding	OTTHUMT00000255562.1	C	NM_001880		175957892	-1	no_errors	ENST00000264110	ensembl	human	known	70_37	missense	SNP	1.000	T	T	175957892	C	T	175957892	3	4	176	1	0	0	0	0	1	0	0	0	1081	884	31	1	447	1	ATF2	2	175957892	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	87886135	175957892	67241481	42	33160										
HOXD4	3233	genome.wustl.edu	37	chr2	177017452	177017452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggtatctgacaaggcgccgtCggattgaaatcgctcacacc	11	12	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:177017452C>T	ENST00000306324.3	+	2	962	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	184					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGGCGCCGTCGGATTGAAAT	0.522																																																	0													74	76	75					2																	177017452		2203	4300	6503	SO:0001583	missense	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.550C>T	2.37:g.177017452C>T	ENSP00000302548:p.Arg184Trp		B2R9R3|Q96AU0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.R184W	ENST00000306324.3	37	c.550	CCDS2269.1	2	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890933	0.72524	.	.	ENSG00000170166	ENST00000306324	D	0.97505	-4.41	5.38	4.48	0.54585	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98147	1.0439	10	0.87932	D	0	.	15.1985	0.73116	0.142:0.858:0.0:0.0	.	184	P09016	HXD4_HUMAN	W	184	ENSP00000302548:R184W	ENSP00000302548:R184W	R	+	1	2	HOXD4	176725698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.968000	0.70413	1.221000	0.43506	0.643000	0.83706	CGG	HOXD4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain		0.522	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	C			177017452	1	no_errors	ENST00000306324	ensembl	human	known	70_37	missense	SNP	1.000	T	T	177017452	C	T	177017452	3	4	176	1	0	0	0	0	1	0	0	0	7344	875	31	1	556	1	HOXD4	2	177017452	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1059560	177017452	66181921	43	33161										
BOLL	66037	genome.wustl.edu	37	chr2	198621173	198621173	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tctggaactgaagtttccatCagagacagtggaggaggaac	13	7	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:198621173C>T	ENST00000392296.4	-	9	1017	c.708G>A	c.(706-708)ctG>ctA	p.L236L	BOLL_ENST00000282278.8_Silent_p.L127L|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000430004.1_Silent_p.L258L|BOLL_ENST00000321801.7_Silent_p.L248L|BOLL_ENST00000433157.1_Silent_p.L236L	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	236					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						AAGTTTCCATCAGAGACAGTG	0.363																																																	0													80	77	78					2																	198621173		2203	4300	6503	SO:0001819	synonymous_variant	66037				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.708G>A	2.37:g.198621173C>T			B4DZA4|Q0JW32|Q53T62|Q969U3	Silent	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.L248	ENST00000392296.4	37	c.744	CCDS2325.1	2																																																																																			BOLL	-	NULL		0.363	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	C	NM_033030		198621173	-1	no_errors	ENST00000321801	ensembl	human	known	70_37	silent	SNP	0.997	T	T	198621173	C	T	198621173	2	4	176	1	0	0	0	0	0	0	0	1	1490	813	29	1		1	BOLL	2	198621173	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	21603721	198621173	44578200	44	33162										
CASP8	841	genome.wustl.edu	37	chr2	202149616	202149616	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcacagtagagcaaatctatGagattttgaaaatctaccaa	7	7	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:202149616G>T	ENST00000432109.2	+	9	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	CASP8_ENST00000264275.5_Nonsense_Mutation_p.E311*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.E353*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E279*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E210*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	294				E -> D (in Ref. 5; AAD24962). {ECO:0000305}.	activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCAAATCTATGAGATTTTGAA	0.443										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													129	116	121					2																	202149616		2203	4300	6503	SO:0001587	stop_gained	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.880G>T	2.37:g.202149616G>T	ENSP00000412523:p.Glu294*		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E353*	ENST00000432109.2	37	c.1057	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444729	0.63178	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.6	2.72	0.32119	.	1.094080	0.06719	N	0.774478	.	.	.	.	.	.	0.21499	N	0.999661	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.5338	0.44992	0.1838:0.0998:0.7164:0.0	.	.	.	.	X	279;210;294;311;353;279;73	.	ENSP00000264274:E210X	E	+	1	0	CASP8	201857861	0.000000	0.05858	0.011000	0.14972	0.003000	0.03518	-0.456000	0.06754	0.337000	0.23665	-0.797000	0.03246	GAG	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.443	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	G	NM_001228		202149616	1	no_errors	ENST00000358485	ensembl	human	known	70_37	nonsense	SNP	0.004	T	T	202149616	G	T	202149616	4	4	176	1	0	0	0	0	0	1	0	0	2682	1291	45	3	1187	3	CASP8	2	202149616	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	3528443	202149616	41049757	45	33163										
CRYGC	1420	genome.wustl.edu	37	chr2	208993004	208993004	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtcctggcaccgcctgtactCttggggcctcagcaggtatt	12	13	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:208993004C>G	ENST00000282141.3	-	3	485	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	150	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGCCTGTACTCTTGGGGCCTC	0.582																																																	0													60	65	63					2																	208993004		2203	4300	6503	SO:0001583	missense	1420				CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.448G>C	2.37:g.208993004C>G	ENSP00000282141:p.Glu150Gln		Q53R50	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E150Q	ENST00000282141.3	37	c.448	CCDS2379.1	2	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953438	0.53293	.	.	ENSG00000163254	ENST00000282141	T	0.79845	-1.31	4.98	4.04	0.47022	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.054082	0.64402	D	0.000001	D	0.82407	0.5030	M	0.86864	2.845	0.53005	D	0.999969	B	0.26809	0.16	B	0.28465	0.09	D	0.83637	0.0148	10	0.59425	D	0.04	.	12.8254	0.57716	0.0:0.8342:0.1658:0.0	.	150	P07315	CRGC_HUMAN	Q	150	ENSP00000282141:E150Q	ENSP00000282141:E150Q	E	-	1	0	CRYGC	208701249	0.996000	0.38824	0.869000	0.34112	0.987000	0.75469	3.653000	0.54446	2.479000	0.83701	0.557000	0.71058	GAG	CRYGC	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin		0.582	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGC	HGNC	protein_coding	OTTHUMT00000256474.1	C	NM_020989		208993004	-1	no_errors	ENST00000282141	ensembl	human	known	70_37	missense	SNP	0.997	G	G	208993004	C	G	208993004	3	3	176	1	0	0	0	0	1	0	0	0	3921	922	32	1	80	1	CRYGC	2	208993004	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	6843388	208993004	34206369	46	33164										
KIF1A	547	genome.wustl.edu	37	chr2	241660385	241660385	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gagaggggcaagtggaggagGgggtgagagtggccacccct	21	7	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:241660385G>C	ENST00000320389.7	-	43	4669	c.4511C>G	c.(4510-4512)cCc>cGc	p.P1504R	KIF1A_ENST00000498729.2_Missense_Mutation_p.P1605R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1504					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGTGGAGGAGGGGGTGAGAGT	0.647																																																	0													20	24	23					2																	241660385		2022	4177	6199	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4511C>G	2.37:g.241660385G>C	ENSP00000322791:p.Pro1504Arg		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1605R	ENST00000320389.7	37	c.4814	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161765	0.78226	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.73575	-0.69;-0.76	4.02	4.02	0.46733	.	0.000000	0.85682	U	0.000000	D	0.82495	0.5049	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;P	0.78314	0.991;0.901	T	0.79741	-0.1676	10	0.18710	T	0.47	.	15.7772	0.78232	0.0:0.0:1.0:0.0	.	1605;1504	F5H045;Q12756	.;KIF1A_HUMAN	R	1504;1605;1613	ENSP00000322791:P1504R;ENSP00000438388:P1605R	ENSP00000322791:P1504R	P	-	2	0	KIF1A	241309058	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	9.182000	0.94881	1.800000	0.52685	0.655000	0.94253	CCC	KIF1A	-	NULL		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	G	NM_138483		241660385	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	1.000	C	C	241660385	G	C	241660385	3	2	176	1	0	0	0	0	1	0	0	0	8303	1232	43	4	581	4	KIF1A	2	241660385	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	32667381	241660385	1538988	47	33165										
IRAK2	3656	genome.wustl.edu	37	chr3	10251363	10251363	+	Frame_Shift_Del	DEL	C	C	-													0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gagaagcgacctccccacttCgtctgattcaaaggtaaatc					rs200255937		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:10251363delC	ENST00000256458.4	+	4	605	c.515delC	c.(514-516)tcgfs	p.S173fs		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	173					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CTCCCCACTTCGTCTGATTCA	0.562																																																	0													114	116	115					3																	10251363		2203	4300	6503	SO:0001589	frameshift_variant	3656			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.515delC	3.37:g.10251363delC	ENSP00000256458:p.Ser173fs		B4DQZ6|Q08AG6|Q5K546	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S172fs	ENST00000256458.4	37	c.515	CCDS33697.1	3																																																																																			IRAK2	-	NULL		0.562	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	C			10251363	1	no_errors	ENST00000256458	ensembl	human	known	70_37	frame_shift_del	DEL	0.013	-	-	10251363	C	-	10251363	7	5	176	1	0	1	0	1	0	0	0	0	7843	893	31	0	529	0	IRAK2	3	10251363	Frame_Shift_Del	DEL	C	TCGA-MY-A5BD-01A-11D-A26G-09		10251363	187771067	48	33166										
ZFYVE20	64145	genome.wustl.edu	37	chr3	15115861	15115861	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agaccacactctggtgggttGagttgagctaagtgaagggg	16	6	1	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:15115861G>C	ENST00000253699.3	-	14	2396	c.1783C>G	c.(1783-1785)Caa>Gaa	p.Q595E	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q595E	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	595	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTGGTGGGTTGAGTTGAGCTA	0.592																																																	0													49	53	52					3																	15115861		2203	4300	6503	SO:0001583	missense	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1783C>G	3.37:g.15115861G>C	ENSP00000253699:p.Gln595Glu		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.Q595E	ENST00000253699.3	37	c.1783	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	G	0	-2.585699	0.00128	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.50001	0.76;0.76	5.21	1.21	0.21127	.	0.536619	0.19893	N	0.103698	T	0.15046	0.0363	N	0.02142	-0.665	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.32079	-0.9920	10	0.05525	T	0.97	-2.1321	6.2161	0.20656	0.0739:0.3832:0.4234:0.1196	.	595	Q9H1K0	RBNS5_HUMAN	E	595	ENSP00000253699:Q595E;ENSP00000422551:Q595E	ENSP00000253699:Q595E	Q	-	1	0	ZFYVE20	15090865	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.115000	0.10741	-0.058000	0.13177	0.491000	0.48974	CAA	ZFYVE20	-	NULL		0.592	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	G	NM_022340		15115861	-1	no_errors	ENST00000253699	ensembl	human	known	70_37	missense	SNP	0.000	C	C	15115861	G	C	15115861	3	2	176	1	0	0	0	0	1	0	0	0	17696	1299	45	1	575	1	ZFYVE20	3	15115861	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	4864498	15115861	182906569	49	33167										
PLCD1	5333	genome.wustl.edu	37	chr3	38051397	38051397	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cccatccccaccacacacctCaggggagggcaggctgttgg	12	16	1	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:38051397C>G	ENST00000334661.4	-	8	1507	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.E450Q	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	429	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCACACACCTCAGGGGAGGGC	0.672																																																	0													19	20	19					3																	38051397		2198	4287	6485	SO:0001583	missense	5333				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1285G>C	3.37:g.38051397C>G	ENSP00000335600:p.Glu429Gln		B3KR14|Q86VN8	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E450Q	ENST00000334661.4	37	c.1348	CCDS2671.1	3	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138518	0.56936	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.66460	-0.21;-0.21	4.98	4.98	0.66077	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.82476	0.5045	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.951	D	0.83578	0.0116	10	0.51188	T	0.08	.	18.6149	0.91299	0.0:1.0:0.0:0.0	.	429;450	P51178;B3KR14	PLCD1_HUMAN;.	Q	450;429	ENSP00000430344:E450Q;ENSP00000335600:E429Q	ENSP00000335600:E429Q	E	-	1	0	PLCD1	38026401	1.000000	0.71417	0.978000	0.43139	0.132000	0.20833	7.710000	0.84655	2.491000	0.84063	0.555000	0.69702	GAG	PLCD1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C		0.672	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	C			38051397	-1	no_errors	ENST00000463876	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38051397	C	G	38051397	3	3	176	1	0	0	0	0	1	0	0	0	12055	835	29	1	1017	1	PLCD1	3	38051397	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	22935536	38051397	159971033	50	33168										
NKTR	4820	genome.wustl.edu	37	chr3	42674223	42674223	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agcagaaggaggaaacataaGaggaggccaaaagttaaacg	13	5	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:42674223G>T	ENST00000232978.8	+	9	869	c.681G>T	c.(679-681)aaG>aaT	p.K227N	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	227	Arg/Lys-rich (basic).|Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGAAACATAAGAGGAGGCCAA	0.423																																																	0													114	119	117					3																	42674223		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.681G>T	3.37:g.42674223G>T	ENSP00000232978:p.Lys227Asn			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.K227N	ENST00000232978.8	37	c.681	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836887	0.71373	.	.	ENSG00000114857	ENST00000232978	T	0.16597	2.33	5.74	3.87	0.44632	.	0.097847	0.64402	D	0.000002	T	0.35038	0.0918	M	0.76002	2.32	0.80722	D	1	D;D	0.63880	0.986;0.993	P;P	0.62435	0.722;0.902	T	0.04946	-1.0916	10	0.59425	D	0.04	-15.0264	8.4763	0.33016	0.3334:0.0:0.6666:0.0	.	107;227	Q59EC3;P30414	.;NKTR_HUMAN	N	227	ENSP00000232978:K227N	ENSP00000232978:K227N	K	+	3	2	NKTR	42649227	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.235000	0.43044	0.698000	0.31739	-0.345000	0.07892	AAG	NKTR	-	NULL		0.423	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42674223	1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42674223	G	T	42674223	3	4	176	1	0	0	0	0	1	0	0	0	10472	933	33	3	711	3	NKTR	3	42674223	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	4622826	42674223	155348207	51	33169										
RBM6	10180	genome.wustl.edu	37	chr3	50114529	50114529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gacttaccgagatgctgttcGaagagtcatgtttgctcgat	11	8	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:50114529G>A	ENST00000266022.4	+	21	3594	c.3335G>A	c.(3334-3336)cGa>cAa	p.R1112Q	RBM6_ENST00000442092.1_Missense_Mutation_p.R590Q|RBM6_ENST00000421682.1_Missense_Mutation_p.R108Q|RBM6_ENST00000443081.1_Missense_Mutation_p.R980Q|RBM6_ENST00000539992.1_Missense_Mutation_p.R454Q|RBM6_ENST00000422955.1_Missense_Mutation_p.R590Q	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	1112					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GATGCTGTTCGAAGAGTCATG	0.458																																																	0													92	86	88					3																	50114529		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.3335G>A	3.37:g.50114529G>A	ENSP00000266022:p.Arg1112Gln		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.R1112Q	ENST00000266022.4	37	c.3335	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.162554	0.94727	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000421682	T;T;T;T;T	0.57436	0.4;0.91;0.94;0.51;0.4	5.59	5.59	0.84812	.	0.065091	0.64402	D	0.000017	T	0.70996	0.3288	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.69785	-0.5051	9	.	.	.	-8.6608	17.3654	0.87362	0.0:0.0:1.0:0.0	.	1112	P78332	RBM6_HUMAN	Q	590;1112;980;454;590;108	ENSP00000393530:R590Q;ENSP00000266022:R1112Q;ENSP00000396466:R980Q;ENSP00000443165:R454Q;ENSP00000392939:R590Q	.	R	+	2	0	RBM6	50089533	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.885000	0.69736	2.640000	0.89533	0.462000	0.41574	CGA	RBM6	-	NULL		0.458	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50114529	1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50114529	G	A	50114529	3	1	176	1	0	0	0	0	1	0	0	0	13174	1058	37	1	3413	1	RBM6	3	50114529	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	7440306	50114529	147907901	52	33170										
CADPS	8618	genome.wustl.edu	37	chr3	62860455	62860455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggagggccggccgccgccagCgcggctgctgggttgcagcc	19	15	0	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:62860455C>T	ENST00000383710.4	-	1	599	c.250G>A	c.(250-252)Gct>Act	p.A84T	CADPS_ENST00000490353.2_Missense_Mutation_p.A84T|CADPS_ENST00000357948.3_Missense_Mutation_p.A84T|CADPS_ENST00000283269.9_Missense_Mutation_p.A84T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	84					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCGCCGCCAGCGCGGCTGCTG	0.771																																																	0													7	7	7					3																	62860455		1839	3537	5376	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.250G>A	3.37:g.62860455C>T	ENSP00000373215:p.Ala84Thr		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A84T	ENST00000383710.4	37	c.250	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149943	0.37923	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	4.91	3.12	0.35913	.	1.001530	0.08054	N	0.997115	T	0.71264	0.3319	N	0.08118	0	0.34777	D	0.734375	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.0	T	0.63941	-0.6523	10	0.42905	T	0.14	.	7.6674	0.28439	0.0:0.735:0.0:0.265	.	84;84;84	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	84	ENSP00000373215:A84T;ENSP00000350632:A84T;ENSP00000283269:A84T;ENSP00000418736:A84T	ENSP00000283269:A84T	A	-	1	0	CADPS	62835495	0.099000	0.21834	0.697000	0.30258	0.671000	0.39405	1.149000	0.31626	0.498000	0.27948	0.561000	0.74099	GCT	CADPS	-	NULL		0.771	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62860455	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	0.998	T	T	62860455	C	T	62860455	3	4	176	1	0	0	0	0	1	0	0	0	2575	768	27	2	4004	2	CADPS	3	62860455	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	12745926	62860455	135161975	53	33171										
PARP14	54625	genome.wustl.edu	37	chr3	122418737	122418737	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagaggatgtccaaagcattGaggtacaagtcagggagtta	13	6	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:122418737G>A	ENST00000474629.2	+	6	1602	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCAAAGCATTGAGGTACAAGT	0.353																																																	0													92	86	88					3																	122418737		1854	4097	5951	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1336G>A	3.37:g.122418737G>A	ENSP00000418194:p.Glu446Lys		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E446K	ENST00000474629.2	37	c.1336	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796403	0.31777	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10668	2.85	5.32	4.38	0.52667	.	0.374478	0.23502	N	0.047498	T	0.16599	0.0399	M	0.69823	2.125	0.09310	N	1	P;P	0.52316	0.952;0.799	P;B	0.45639	0.488;0.276	T	0.11542	-1.0583	10	0.56958	D	0.05	.	9.5329	0.39205	0.1157:0.0:0.8843:0.0	.	446;446	Q460N5-4;Q460N5	.;PAR14_HUMAN	K	446;365	ENSP00000418194:E446K	ENSP00000381228:E365K	E	+	1	0	PARP14	123901427	0.012000	0.17670	0.012000	0.15200	0.032000	0.12392	1.144000	0.31565	1.301000	0.44836	0.655000	0.94253	GAG	PARP14	-	NULL		0.353	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	G	NM_017554		122418737	1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.204	A	A	122418737	G	A	122418737	3	1	176	1	0	0	0	0	1	0	0	0	11482	1291	45	1	1358	1	PARP14	3	122418737	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	59558282	122418737	75603693	54	33172										
KY	339855	genome.wustl.edu	37	chr3	134366309	134366309	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttccttctaatttctgccatCttcggactccatttccaaca	3	14	3	0	rs557297314		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:134366309C>T	ENST00000423778.2	-	2	228	c.167G>A	c.(166-168)aGa>aAa	p.R56K	KY_ENST00000503669.1_Missense_Mutation_p.R56K|KY_ENST00000508956.1_Missense_Mutation_p.R56K	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	56					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTTCTGCCATCTTCGGACTCC	0.388																																																	0													93	91	92					3																	134366309		1840	4092	5932	SO:0001583	missense	339855			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.167G>A	3.37:g.134366309C>T	ENSP00000397598:p.Arg56Lys		B7Z1S4|Q6ZT15	Missense_Mutation	SNP	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.R56K	ENST00000423778.2	37	c.167	CCDS46920.1	3	.	.	.	.	.	.	.	.	.	.	C	9.870	1.198790	0.22121	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	.	.	.	5.85	2.5	0.30297	.	0.568447	0.17397	N	0.175707	T	0.16938	0.0407	N	0.20685	0.6	0.21553	N	0.999646	B;B;B;B	0.11235	0.001;0.0;0.001;0.004	B;B;B;B	0.08055	0.001;0.0;0.001;0.003	T	0.34527	-0.9825	9	0.02654	T	1	-12.0094	6.0237	0.19642	0.0:0.3908:0.0:0.6091	.	56;56;56;38	Q8NBH2-3;B4DGA7;Q8NBH2-4;Q8NBH2-2	.;.;.;.	K	56	.	ENSP00000309520:R56K	R	-	2	0	KY	135848999	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	0.984000	0.29565	0.130000	0.18549	0.655000	0.94253	AGA	KY	-	NULL		0.388	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	HGNC	protein_coding	OTTHUMT00000357320.1	C	NM_178554		134366309	-1	no_errors	ENST00000423778	ensembl	human	known	70_37	missense	SNP	1.000	T	T	134366309	C	T	134366309	3	4	176	1	0	0	0	0	1	0	0	0	8606	913	32	1	1858	1	KY	3	134366309	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	11947572	134366309	63656121	55	33173										
XRN1	54464	genome.wustl.edu	37	chr3	142075797	142075797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gaggggaatggttgagggctCccaaatgcccagaggaaact	15	8	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:142075797C>T	ENST00000264951.4	-	31	3746	c.3629G>A	c.(3628-3630)gGa>gAa	p.G1210E	XRN1_ENST00000392981.2_Missense_Mutation_p.G1210E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1210					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTTGAGGGCTCCCAAATGCCC	0.433																																																	0													166	160	162					3																	142075797		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3629G>A	3.37:g.142075797C>T	ENSP00000264951:p.Gly1210Glu		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.G1210E	ENST00000264951.4	37	c.3629	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556870	0.65425	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.29142	1.58;1.58	5.06	3.15	0.36227	.	0.252874	0.38778	N	0.001568	T	0.42494	0.1205	L	0.57536	1.79	0.80722	D	1	D;D	0.64830	0.994;0.979	P;P	0.60236	0.871;0.722	T	0.14615	-1.0466	10	0.18276	T	0.48	-8.9315	12.6308	0.56657	0.1281:0.7477:0.1242:0.0	.	1210;1210	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	E	1210	ENSP00000264951:G1210E;ENSP00000376707:G1210E	ENSP00000264951:G1210E	G	-	2	0	XRN1	143558487	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.593000	0.54001	2.343000	0.79666	0.462000	0.41574	GGA	XRN1	-	pirsf_5_3_exoribonuclease_1		0.433	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	C	NM_019001		142075797	-1	no_errors	ENST00000264951	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142075797	C	T	142075797	3	4	176	1	0	0	0	0	1	0	0	0	17490	855	30	1	1539	1	XRN1	3	142075797	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	7709488	142075797	55946633	56	33174										
HPS3	84343	genome.wustl.edu	37	chr3	148863259	148863259	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gttgtcaaatctgttgaattGatgtcagtctaccagtatcc	8	8	4	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:148863259G>A	ENST00000296051.2	+	5	1229	c.1089G>A	c.(1087-1089)ttG>ttA	p.L363L	HPS3_ENST00000460120.1_Silent_p.L198L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	363					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTGTTGAATTGATGTCAGTCT	0.418									Hermansky-Pudlak syndrome																																								0													166	166	166					3																	148863259		2203	4300	6503	SO:0001819	synonymous_variant	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1089G>A	3.37:g.148863259G>A			A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	pirsf_BLOC-2_complex_Hps3_subunit	p.L363	ENST00000296051.2	37	c.1089	CCDS3140.1	3																																																																																			HPS3	-	pirsf_BLOC-2_complex_Hps3_subunit		0.418	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	G	NM_032383		148863259	1	no_errors	ENST00000296051	ensembl	human	known	70_37	silent	SNP	0.017	A	A	148863259	G	A	148863259	2	1	176	1	0	0	0	0	0	0	0	1	7360	1281	45	1		1	HPS3	3	148863259	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	6787462	148863259	49159171	57	33175										
MED12L	116931	genome.wustl.edu	37	chr3	151087234	151087234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtttttgtaggcaaacctttCcctggaataagatcatcttg	8	8	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:151087234C>A	ENST00000474524.1	+	24	3494	c.3456C>A	c.(3454-3456)ttC>ttA	p.F1152L	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.F1012L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1152						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAAACCTTTCCCTGGAATAA	0.378																																																	0													128	130	129					3																	151087234		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3456C>A	3.37:g.151087234C>A	ENSP00000417235:p.Phe1152Leu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.F1152L	ENST00000474524.1	37	c.3456	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	7.645	0.681722	0.14907	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.27890	1.64;1.64	5.8	4.02	0.46733	.	0.309345	0.36932	N	0.002330	T	0.22360	0.0539	L	0.38531	1.155	0.80722	D	1	B;B;B	0.22346	0.024;0.058;0.068	B;B;B	0.21917	0.037;0.01;0.021	T	0.04811	-1.0925	10	0.36615	T	0.2	-29.3152	7.445	0.27207	0.0:0.6454:0.0:0.3546	.	1012;1151;1152	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	L	1152;1012	ENSP00000417235:F1152L;ENSP00000273432:F1012L	ENSP00000273432:F1012L	F	+	3	2	MED12L	152569924	0.399000	0.25287	1.000000	0.80357	0.866000	0.49608	-0.328000	0.07945	0.797000	0.33971	0.585000	0.79938	TTC	MED12L	-	NULL		0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	C	NM_053002		151087234	1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151087234	C	A	151087234	3	1	176	1	0	0	0	0	1	0	0	0	9452	854	30	3	3550	3	MED12L	3	151087234	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2223975	151087234	46935196	58	33176										
SLC33A1	9197	genome.wustl.edu	37	chr3	155571228	155571228	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctgagtggcggccaagaattCaaacaaaaagaacgccacag	10	10	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:155571228C>T	ENST00000392845.3	-	1	939	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	SLC33A1_ENST00000359479.3_Missense_Mutation_p.E187K|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	187					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCCAAGAATTCAAACAAAAAG	0.478																																																	0													63	68	66					3																	155571228		2203	4300	6503	SO:0001583	missense	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.559G>A	3.37:g.155571228C>T	ENSP00000376587:p.Glu187Lys		B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.E187K	ENST00000392845.3	37	c.559	CCDS3173.1	3	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724957	0.68959	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.80738	-1.41;-1.41	5.28	5.28	0.74379	Major facilitator superfamily domain, general substrate transporter (1);	0.104205	0.64402	D	0.000004	T	0.72244	0.3436	N	0.22421	0.69	0.48236	D	0.999618	B	0.15719	0.014	B	0.22152	0.038	T	0.65179	-0.6231	10	0.25751	T	0.34	-20.9105	19.3307	0.94285	0.0:1.0:0.0:0.0	.	187	O00400	ACATN_HUMAN	K	187	ENSP00000376587:E187K;ENSP00000352456:E187K	ENSP00000352456:E187K	E	-	1	0	SLC33A1	157053922	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.761000	0.62243	2.625000	0.88918	0.650000	0.86243	GAA	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1		0.478	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	C	NM_004733		155571228	-1	no_errors	ENST00000359479	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155571228	C	T	155571228	3	4	176	1	0	0	0	0	1	0	0	0	14596	835	29	1	1114	1	SLC33A1	3	155571228	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	4483994	155571228	42451202	59	33177										
SI	6476	genome.wustl.edu	37	chr3	164780194	164780194	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aactacttgttctggtgtatCtcctagaaggatgtaaaaat	8	6	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:164780194C>T	ENST00000264382.3	-	9	1047	c.985G>A	c.(985-987)Gat>Aat	p.D329N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	329	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			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)|Scopolamine(DB00747)	TCTGGTGTATCTCCTAGAAGG	0.333										HNSCC(35;0.089)																																							0													67	66	66					3																	164780194		2203	4295	6498	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.985G>A	3.37:g.164780194C>T	ENSP00000264382:p.Asp329Asn		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.D329N	ENST00000264382.3	37	c.985	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	7.134	0.580527	0.13686	.	.	ENSG00000090402	ENST00000264382	D	0.86562	-2.14	5.34	5.34	0.76211	Glycoside hydrolase-type carbohydrate-binding (1);	0.134298	0.64402	D	0.000003	T	0.70334	0.3212	N	0.05441	-0.05	0.45139	D	0.998156	B	0.20368	0.044	B	0.30316	0.114	T	0.64232	-0.6456	10	0.02654	T	1	.	6.9718	0.24652	0.0:0.7858:0.0:0.2142	.	329	P14410	SUIS_HUMAN	N	329	ENSP00000264382:D329N	ENSP00000264382:D329N	D	-	1	0	SI	166262888	1.000000	0.71417	0.968000	0.41197	0.814000	0.46013	1.729000	0.38115	2.488000	0.83962	0.585000	0.79938	GAT	SI	-	pfam_Glyco_hydro_31,superfamily_Glyco_hydro-type_carb-bd		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041		164780194	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	1.000	T	T	164780194	C	T	164780194	3	4	176	1	0	0	0	0	1	0	0	0	14327	913	32	1	4658	1	SI	3	164780194	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	9208966	164780194	33242236	60	33178										
PRKCI	5584	genome.wustl.edu	37	chr3	169998189	169998189	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aagagcttgttaatgatgatGaggtaagcactgcatatttt	10	4	0	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:169998189G>A	ENST00000295797.4	+	9	1185	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TAATGATGATGAGGTAAGCAC	0.353																																																	0													74	73	73					3																	169998189		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.880G>A	3.37:g.169998189G>A	ENSP00000295797:p.Glu294Lys		D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E294K	ENST00000295797.4	37	c.880	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	G	36	5.965411	0.97151	.	.	ENSG00000163558	ENST00000295797	T	0.63744	-0.06	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	N	0.11724	0.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64504	-0.6392	9	.	.	.	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	294	P41743	KPCI_HUMAN	K	294	ENSP00000295797:E294K	.	E	+	1	0	PRKCI	171480883	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.459000	0.97638	2.890000	0.99128	0.650000	0.86243	GAG	PRKCI	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom		0.353	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	G	NM_002740		169998189	1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	1.000	A	A	169998189	G	A	169998189	3	1	176	1	0	0	0	0	1	0	0	0	12541	1291	45	1	914	1	PRKCI	3	169998189	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	5217995	169998189	28024241	61	33179										
ECT2	1894	genome.wustl.edu	37	chr3	172501696	172501696	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccaagatttcatgcttttctCaaggtaatgtgtgtttcttt	7	7	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:172501696C>G	ENST00000392692.3	+	16	1901	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L	ECT2_ENST00000417960.1_Silent_p.L543L|ECT2_ENST00000441497.2_Silent_p.L544L|ECT2_ENST00000232458.5_Silent_p.L544L|ECT2_ENST00000427830.1_Silent_p.L544L|ECT2_ENST00000540509.1_Silent_p.L575L	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	575	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCTTTTCTCAAGGTAATGT	0.269																																																	0													43	48	46					3																	172501696		2202	4284	6486	SO:0001819	synonymous_variant	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1725C>G	3.37:g.172501696C>G			Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.L544	ENST00000392692.3	37	c.1632	CCDS58860.1	3																																																																																			ECT2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.269	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	C	NM_018098		172501696	1	no_errors	ENST00000427830	ensembl	human	known	70_37	silent	SNP	0.398	G	G	172501696	C	G	172501696	2	3	176	1	0	0	0	0	0	0	0	1	4911	813	29	1		1	ECT2	3	172501696	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2503507	172501696	25520734	62	33180										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	176	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	6434386	178936082	19086348	63	33181										
C3orf70	285382	genome.wustl.edu	37	chr3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aaccccgctccgacgccggcGaggccgccgcactcatttcc	10	20	1	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16	17	17					3																	184870595		2196	4292	6488	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6L	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	G	NM_001025266		184870595	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	missense	SNP	0.804	A	A	184870595	G	A	184870595	3	1	176	1	0	0	0	0	1	0	0	0	2247	1059	37	1	743	1	C3orf70	3	184870595	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	5934513	184870595	13151835	64	33182										
C3orf59	151963	genome.wustl.edu	37	chr3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gatgatggctttgcaggcctGataggcctgcatgaggctgc	15	9	0	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																																	2	Substitution - Missense(2)	lung(2)											34	35	34					3																	192516720		2203	4300	6503	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.Q311E	ENST00000392452.2	37	c.931	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	G	NM_178496		192516720	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	missense	SNP	1.000	C	C	192516720	G	C	192516720	3	2	176	1	0	0	0	0	1	0	0	0	2242	1299	45	1	548	1	C3orf59	3	192516720	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	7646125	192516720	5505710	65	33183										
ATP13A4	84239	genome.wustl.edu	37	chr3	193120514	193120514	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgccacactccggcatgtcaGagtgggaggtttggtttagc	14	9	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:193120514G>A	ENST00000342695.4	-	30	3840	c.3518C>T	c.(3517-3519)tCt>tTt	p.S1173F	ATP13A4_ENST00000392443.3_Missense_Mutation_p.S1154F|ATP13A4_ENST00000400270.2_Missense_Mutation_p.S189F|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1173						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CGGCATGTCAGAGTGGGAGGT	0.463																																																	0													97	95	96					3																	193120514		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3518C>T	3.37:g.193120514G>A	ENSP00000339182:p.Ser1173Phe		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.S1173F	ENST00000342695.4	37	c.3518	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268249	0.40095	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;D;D	0.85773	0.42;-1.74;-2.03	5.0	4.12	0.48240	.	0.332375	0.25798	N	0.028229	D	0.84397	0.5463	L	0.38175	1.15	0.80722	D	1	P	0.42556	0.783	P	0.50617	0.646	D	0.85187	0.1007	10	0.72032	D	0.01	-16.8525	12.1067	0.53816	0.0:0.3817:0.6183:0.0	.	1173	Q4VNC1	AT134_HUMAN	F	189;1154;1173	ENSP00000383129:S189F;ENSP00000376238:S1154F;ENSP00000339182:S1173F	ENSP00000339182:S1173F	S	-	2	0	ATP13A4	194603208	0.991000	0.36638	0.971000	0.41717	0.179000	0.23085	3.011000	0.49567	1.223000	0.43536	0.597000	0.82753	TCT	ATP13A4	-	NULL		0.463	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	G	NM_032279		193120514	-1	no_errors	ENST00000342695	ensembl	human	known	70_37	missense	SNP	0.996	A	A	193120514	G	A	193120514	3	1	176	1	0	0	0	0	1	0	0	0	1127	942	33	1	76	1	ATP13A4	3	193120514	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	603794	193120514	4901916	66	33184										
LRCH3	84859	genome.wustl.edu	37	chr3	197593020	197593020	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tattcttttcctgctgctatCcagagaaatcagcctcagcg	7	12	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:197593020C>G	ENST00000425562.2	+	17	1803	c.1803C>G	c.(1801-1803)atC>atG	p.I601M	LRCH3_ENST00000334859.4_Missense_Mutation_p.I601M|LRCH3_ENST00000441090.2_Missense_Mutation_p.I447M|LRCH3_ENST00000438796.2_Missense_Mutation_p.I601M|LRCH3_ENST00000536618.1_Missense_Mutation_p.I196M|LRCH3_ENST00000414675.2_Missense_Mutation_p.I549M			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	601						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CTGCTGCTATCCAGAGAAATC	0.408																																																	0													113	116	115					3																	197593020		2203	4300	6503	SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1803C>G	3.37:g.197593020C>G	ENSP00000393579:p.Ile601Met		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.I601M	ENST00000425562.2	37	c.1803		3	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252775	0.39797	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.42900	2.15;1.55;2.15;2.4;2.18;0.96	5.12	3.34	0.38264	.	1.048890	0.07461	N	0.900639	T	0.32585	0.0834	N	0.19112	0.55	0.21386	N	0.999708	P;B;P;B;P	0.44090	0.826;0.205;0.738;0.36;0.493	B;B;B;B;B	0.41466	0.208;0.071;0.358;0.098;0.253	T	0.18903	-1.0322	10	0.38643	T	0.18	2.1843	11.3063	0.49336	0.0:0.8512:0.0:0.1488	.	447;549;601;601;601	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	M	601;447;549;601;601;196	ENSP00000399751:I601M;ENSP00000394609:I447M;ENSP00000394965:I549M;ENSP00000334375:I601M;ENSP00000393579:I601M;ENSP00000439083:I196M	ENSP00000334375:I601M	I	+	3	3	LRCH3	199077417	0.146000	0.22672	0.831000	0.32960	0.978000	0.69477	0.382000	0.20635	0.584000	0.29591	0.555000	0.69702	ATC	LRCH3	-	NULL		0.408	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	C	NM_032773		197593020	1	no_errors	ENST00000438796	ensembl	human	known	70_37	missense	SNP	0.927	G	G	197593020	C	G	197593020	3	3	176	1	0	0	0	0	1	0	0	0	8957	845	30	1	1869	1	LRCH3	3	197593020	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	4472506	197593020	429410	67	33185										
ZNF732	654254	genome.wustl.edu	37	chr4	266109	266109	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgatgttgagttaggtctgaGaacttctgaaatgacttgcc	11	6	2	5			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:266109G>A	ENST00000419098.1	-	4	547	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTAGGTCTGAGAACTTCTGAA	0.338																																																	0													129	108	114					4																	266109		692	1591	2283	SO:0001819	synonymous_variant	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.537C>T	4.37:g.266109G>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F179	ENST00000419098.1	37	c.537	CCDS46990.1	4																																																																																			ZNF732	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	G	NM_001137608		266109	-1	no_errors	ENST00000419098	ensembl	human	known	70_37	silent	SNP	0.000	A	A	266109	G	A	266109	2	1	176	1	0	0	0	0	0	0	0	1	18153	933	33	1		1	ZNF732	4	266109	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		266109	190888167	68	33186										
FAM193A	8603	genome.wustl.edu	37	chr4	2701983	2701983	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagagccccccaaggccacaGaggggcagtccaagccccgg	13	17	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:2701983G>A	ENST00000324666.5	+	17	3562	c.3211G>A	c.(3211-3213)Gag>Aag	p.E1071K	FAM193A_ENST00000382839.3_Missense_Mutation_p.E1071K|FAM193A_ENST00000505311.1_Missense_Mutation_p.E1071K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E1093K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E1071K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1071										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAAGGCCACAGAGGGGCAGTC	0.587																																																	0													38	41	40					4																	2701983		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3211G>A	4.37:g.2701983G>A	ENSP00000324587:p.Glu1071Lys		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.E1071K	ENST00000324666.5	37	c.3211	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946238	0.53079	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;1.46	5.17	5.17	0.71159	.	0.126462	0.53938	D	0.000048	T	0.42607	0.1210	L	0.60455	1.87	0.42311	D	0.992212	B;B;P;B;B	0.39480	0.027;0.027;0.675;0.011;0.011	B;B;B;B;B	0.32864	0.021;0.021;0.154;0.021;0.021	T	0.37314	-0.9711	10	0.20519	T	0.43	-23.1045	17.8364	0.88699	0.0:0.0:1.0:0.0	.	1071;1093;1071;1093;1071	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	K	1071;1071;1071;1093;925	ENSP00000372290:E1071K;ENSP00000324587:E1071K;ENSP00000443617:E1071K;ENSP00000427505:E1093K;ENSP00000427260:E925K	ENSP00000324587:E1071K	E	+	1	0	FAM193A	2671781	1.000000	0.71417	0.486000	0.27416	0.742000	0.42306	4.686000	0.61700	2.696000	0.92011	0.655000	0.94253	GAG	FAM193A	-	NULL		0.587	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	G	NM_003704		2701983	1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	0.980	A	A	2701983	G	A	2701983	3	1	176	1	0	0	0	0	1	0	0	0	5539	943	33	1	3269	1	FAM193A	4	2701983	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2435874	2701983	188452293	69	33187										
WFS1	7466	genome.wustl.edu	37	chr4	6302702	6302702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acctggatgtggagcaggccGaggtcaacttcggctggaac	15	10	1	0	rs373146435		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:6302702G>A	ENST00000226760.1	+	8	1350	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	WFS1_ENST00000503569.1_Missense_Mutation_p.E394K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	394					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGAGCAGGCCGAGGTCAACTT	0.597																																																	0									LYS/GLU,LYS/GLU	0,4406		0,0,2203	191	183	186		1180,1180	4.7	1	4		186	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WFS1	NM_001145853.1,NM_006005.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	394/891,394/891	6302702	1,13005	2203	4300	6503	SO:0001583	missense	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1180G>A	4.37:g.6302702G>A	ENSP00000226760:p.Glu394Lys		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.E394K	ENST00000226760.1	37	c.1180	CCDS3386.1	4	.	.	.	.	.	.	.	.	.	.	g	23.8	4.454933	0.84209	0.0	1.16E-4	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.90133	-2.62;-2.62	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95228	0.8340	10	0.87932	D	0	-31.9492	16.7024	0.85357	0.0:0.0:1.0:0.0	.	394	O76024	WFS1_HUMAN	K	394	ENSP00000423337:E394K;ENSP00000226760:E394K	ENSP00000226760:E394K	E	+	1	0	WFS1	6353603	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	9.067000	0.93955	2.181000	0.69327	0.556000	0.70494	GAG	WFS1	-	NULL		0.597	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1	G			6302702	1	no_errors	ENST00000226760	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6302702	G	A	6302702	3	1	176	1	0	0	0	0	1	0	0	0	17391	1059	37	1	1206	1	WFS1	4	6302702	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	3600719	6302702	184851574	70	33188										
BOD1L	259282	genome.wustl.edu	37	chr4	13603720	13603720	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgtgaggaaggtttcactttCagcaaatccctctgtgacaa	9	9	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:13603720C>T	ENST00000040738.5	-	10	4939	c.4804G>A	c.(4804-4806)Gaa>Aaa	p.E1602K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1602						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTTTCACTTTCAGCAAATCCC	0.502																																																	0													64	61	62					4																	13603720		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4804G>A	4.37:g.13603720C>T	ENSP00000040738:p.Glu1602Lys		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.E1602K	ENST00000040738.5	37	c.4804	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250460	0.80024	.	.	ENSG00000038219	ENST00000040738	T	0.10477	2.87	5.23	5.23	0.72850	.	0.107920	0.40908	D	0.000981	T	0.23806	0.0576	L	0.36672	1.1	0.40857	D	0.983802	D	0.76494	0.999	D	0.78314	0.991	T	0.01356	-1.1376	10	0.32370	T	0.25	-5.1335	16.9701	0.86296	0.0:1.0:0.0:0.0	.	1602	Q8NFC6	BOD1L_HUMAN	K	1602	ENSP00000040738:E1602K	ENSP00000040738:E1602K	E	-	1	0	BOD1L	13212818	1.000000	0.71417	0.971000	0.41717	0.722000	0.41435	4.770000	0.62309	2.429000	0.82318	0.650000	0.86243	GAA	BOD1L1	-	NULL		0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13603720	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13603720	C	T	13603720	3	4	176	1	0	0	0	0	1	0	0	0	1484	835	29	1	4419	1	BOD1L	4	13603720	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	7301018	13603720	177550556	71	33189										
PDS5A	23244	genome.wustl.edu	37	chr4	39851196	39851196	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tctggttaacttgatgttctCtgccatcttcttcataaagg	7	9	5	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:39851196C>T	ENST00000303538.8	-	27	3702	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGATGTTCTCTGCCATCTTC	0.368																																																	0													152	142	145					4																	39851196		1907	4131	6038	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3163G>A	4.37:g.39851196C>T	ENSP00000303427:p.Glu1055Lys			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1055K	ENST00000303538.8	37	c.3163	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805091	0.90623	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.75264	2.295	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.79434	-0.1805	8	.	.	.	-14.7971	19.5899	0.95506	0.0:1.0:0.0:0.0	.	1055	Q29RF7	PDS5A_HUMAN	K	1055	.	.	E	-	1	0	PDS5A	39527591	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.723000	0.84788	2.612000	0.88384	0.655000	0.94253	GAG	PDS5A	-	NULL		0.368	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	C	NM_015200		39851196	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39851196	C	T	39851196	3	4	176	1	0	0	0	0	1	0	0	0	11715	922	32	1	878	1	PDS5A	4	39851196	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	26247476	39851196	151303080	72	33190										
CXCL9	4283	genome.wustl.edu	37	chr4	76924773	76924773	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	atgtagtcttcttttgacgaGaacgttgagattttcgaact	9	6	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:76924773G>C	ENST00000264888.5	-	4	394	c.356C>G	c.(355-357)tCt>tGt	p.S119C	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	119					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTTGACGAGAACGTTGAGA	0.338																																																	0													177	169	172					4																	76924773		2201	4298	6499	SO:0001583	missense	4283			X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"Endogenous ligands"	7098	protein-coding gene	gene with protein product		601704	"monokine induced by gamma interferon"	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.356C>G	4.37:g.76924773G>C	ENSP00000354901:p.Ser119Cys		Q503B4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.S119C	ENST00000264888.5	37	c.356	CCDS34014.1	4	.	.	.	.	.	.	.	.	.	.	G	11.45	1.640998	0.29157	.	.	ENSG00000138755	ENST00000264888	T	0.46451	0.87	5.22	-1.43	0.08884	.	3.292610	0.00810	N	0.001489	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	P	0.36495	0.556	B	0.27262	0.078	T	0.34925	-0.9809	10	0.48119	T	0.1	2.8283	11.9178	0.52776	0.0799:0.6389:0.2812:0.0	.	119	Q07325	CXCL9_HUMAN	C	119	ENSP00000354901:S119C	ENSP00000354901:S119C	S	-	2	0	CXCL9	77143797	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.211000	0.09332	-0.110000	0.12022	0.563000	0.77884	TCT	CXCL9	-	NULL		0.338	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL9	HGNC	protein_coding	OTTHUMT00000362819.1	G			76924773	-1	no_errors	ENST00000264888	ensembl	human	known	70_37	missense	SNP	0.000	C	C	76924773	G	C	76924773	3	2	176	1	0	0	0	0	1	0	0	0	4094	942	33	1	25	1	CXCL9	4	76924773	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	37073577	76924773	114229503	73	33191										
PTPN13	5783	genome.wustl.edu	37	chr4	87671990	87671990	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtgggaaaaccttctcaccaGatgtcaagatctgatgcaga	10	9	3	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:87671990G>A	ENST00000411767.2	+	18	3081	c.3018G>A	c.(3016-3018)caG>caA	p.Q1006Q	PTPN13_ENST00000427191.2_Silent_p.Q1006Q|PTPN13_ENST00000436978.1_Silent_p.Q1006Q|PTPN13_ENST00000511467.1_Silent_p.Q1006Q|PTPN13_ENST00000316707.6_Intron			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1006					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTCTCACCAGATGTCAAGAT	0.393																																																	0													51	49	49					4																	87671990		1862	4091	5953	SO:0001819	synonymous_variant	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3018G>A	4.37:g.87671990G>A			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.Q1006	ENST00000411767.2	37	c.3018	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.393	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	G			87671990	1	no_errors	ENST00000436978	ensembl	human	known	70_37	silent	SNP	1.000	A	A	87671990	G	A	87671990	2	1	176	1	0	0	0	0	0	0	0	1	12810	933	33	1		1	PTPN13	4	87671990	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	10747217	87671990	103482286	74	33192										
BANK1	55024	genome.wustl.edu	37	chr4	102751337	102751337	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggaacctgaagactacatctCtgtaatccagagtatcatat	7	9	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:102751337C>T	ENST00000322953.4	+	2	717	c.443C>T	c.(442-444)tCt>tTt	p.S148F	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000504592.1_Missense_Mutation_p.S133F|BANK1_ENST00000444316.2_Missense_Mutation_p.S118F	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	148	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GACTACATCTCTGTAATCCAG	0.328																																																	0													56	61	59					4																	102751337		2196	4299	6495	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.443C>T	4.37:g.102751337C>T	ENSP00000320509:p.Ser148Phe		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S148F	ENST00000322953.4	37	c.443	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077106	0.76415	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.11385	2.78;2.78;2.78	5.32	5.32	0.75619	.	0.186440	0.35262	N	0.003325	T	0.30166	0.0756	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.00992	-1.1488	10	0.87932	D	0	.	18.0043	0.89205	0.0:1.0:0.0:0.0	.	148;133	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	F	133;148;118	ENSP00000421443:S133F;ENSP00000320509:S148F;ENSP00000388817:S118F	ENSP00000320509:S148F	S	+	2	0	BANK1	102970360	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.396000	0.66297	2.478000	0.83669	0.650000	0.86243	TCT	BANK1	-	NULL		0.328	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	C	NM_017935		102751337	1	no_errors	ENST00000322953	ensembl	human	known	70_37	missense	SNP	0.998	T	T	102751337	C	T	102751337	3	4	176	1	0	0	0	0	1	0	0	0	1310	913	32	1	449	1	BANK1	4	102751337	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	15079347	102751337	88402939	75	33193										
SH3RF1	57630	genome.wustl.edu	37	chr4	170037479	170037479	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acaagctgatgaagcactgtCaggagatgtggggagtccag	15	7	1	3	rs150816134	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:170037479C>T	ENST00000284637.9	-	10	2421	c.2080G>A	c.(2080-2082)Gac>Aac	p.D694N	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	694					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GAAGCACTGTCAGGAGATGTG	0.507																																																	0													103	86	92					4																	170037479		2203	4300	6503	SO:0001583	missense	57630			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2080G>A	4.37:g.170037479C>T	ENSP00000284637:p.Asp694Asn		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.D694N	ENST00000284637.9	37	c.2080	CCDS34099.1	4	.	.	.	.	.	.	.	.	.	.	C	9.101	1.004163	0.19199	.	.	ENSG00000154447	ENST00000284637	T	0.11930	2.73	5.34	5.34	0.76211	.	0.419049	0.29853	N	0.011029	T	0.08133	0.0203	N	0.04508	-0.205	0.28994	N	0.887899	B	0.27559	0.181	B	0.26969	0.075	T	0.17653	-1.0362	10	0.21014	T	0.42	-18.822	19.0412	0.93000	0.0:1.0:0.0:0.0	.	694	Q7Z6J0	SH3R1_HUMAN	N	694	ENSP00000284637:D694N	ENSP00000284637:D694N	D	-	1	0	SH3RF1	170274054	0.999000	0.42202	0.895000	0.35142	0.110000	0.19582	7.057000	0.76669	2.495000	0.84180	0.555000	0.69702	GAC	SH3RF1	-	NULL		0.507	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3	C	NM_020870		170037479	-1	no_errors	ENST00000284637	ensembl	human	known	70_37	missense	SNP	0.951	T	T	170037479	C	T	170037479	3	4	176	1	0	0	0	0	1	0	0	0	14288	826	29	1	598	1	SH3RF1	4	170037479	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	67286142	170037479	21116797	76	33194										
BRD9	65980	genome.wustl.edu	37	chr5	884088	884088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gaaccggttgatcctgtcccGagcttcgtcagctgcgtgct	12	13	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:884088G>A	ENST00000467963.1	-	8	1097	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	BRD9_ENST00000323510.4_Missense_Mutation_p.R215W|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000435709.2_Missense_Mutation_p.R195W|BRD9_ENST00000388890.4_Missense_Mutation_p.R195W|BRD9_ENST00000483173.1_Missense_Mutation_p.R258W	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	311					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ATCCTGTCCCGAGCTTCGTCA	0.627																																																	0													128	99	109					5																	884088		2203	4300	6503	SO:0001583	missense	65980			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.931C>T	5.37:g.884088G>A	ENSP00000419765:p.Arg311Trp		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R311W	ENST00000467963.1	37	c.931	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542705	0.27563	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	5.03	3.2	0.36748	.	0.057457	0.64402	D	0.000001	T	0.43033	0.1229	M	0.77616	2.38	0.58432	D	0.999999	P;P;P;B	0.41041	0.736;0.494;0.69;0.438	B;B;B;B	0.34536	0.185;0.115;0.116;0.07	T	0.38650	-0.9651	10	0.59425	D	0.04	.	7.4442	0.27201	0.0776:0.0:0.6282:0.2942	.	258;311;215;195	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	W	215;195;258;311;195;215	ENSP00000323557:R215W;ENSP00000373542:R195W;ENSP00000419845:R258W;ENSP00000419765:R311W;ENSP00000402984:R195W;ENSP00000420722:R215W	ENSP00000323557:R215W	R	-	1	2	BRD9	937088	1.000000	0.71417	0.003000	0.11579	0.032000	0.12392	4.775000	0.62346	0.491000	0.27793	0.609000	0.83330	CGG	BRD9	-	pfam_DUF3512		0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1	G	NM_023924		884088	-1	no_errors	ENST00000467963	ensembl	human	known	70_37	missense	SNP	0.972	A	A	884088	G	A	884088	3	1	176	1	0	0	0	0	1	0	0	0	1510	1057	37	1	898	1	BRD9	5	884088	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		884088	180031172	77	33195										
IL31RA	133396	genome.wustl.edu	37	chr5	55212857	55212857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agatcatctgtgtgaggaagGagccccaaatccatatttga	10	8	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:55212857G>A	ENST00000447346.2	+	15	2269	c.2204G>A	c.(2203-2205)gGa>gAa	p.G735E	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.G593E	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	703					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTGAGGAAGGAGCCCCAAAT	0.473																																																	0													53	60	57					5																	55212857		2203	4300	6503	SO:0001583	missense	133396			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.2204G>A	5.37:g.55212857G>A	ENSP00000415900:p.Gly735Glu		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G735E	ENST00000447346.2	37	c.2204	CCDS3970.2	5	.	.	.	.	.	.	.	.	.	.	G	4.352	0.064882	0.08388	.	.	ENSG00000164509	ENST00000447346;ENST00000490985	T;T	0.41400	1.18;1.0	5.65	-2.25	0.06888	.	1.098820	0.06734	N	0.777191	T	0.29190	0.0726	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.25537	-1.0129	9	.	.	.	-0.0481	6.5188	0.22262	0.3421:0.2568:0.4011:0.0	.	735	Q8NI17-2	.	E	735;593	ENSP00000415900:G735E;ENSP00000427533:G593E	.	G	+	2	0	IL31RA	55248614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.291000	0.08343	-0.459000	0.07013	-2.481000	0.00198	GGA	IL31RA	-	NULL		0.473	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1	G	NM_139017		55212857	1	no_errors	ENST00000447346	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55212857	G	A	55212857	3	1	176	1	0	0	0	0	1	0	0	0	7711	1174	41	1	2262	1	IL31RA	5	55212857	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	54328769	55212857	125702403	78	33196										
COL4A3BP	10087	genome.wustl.edu	37	chr5	74722252	74722252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgctccagacaccagggacaCcattgagccatgtcgacgca	10	14	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:74722252C>A	ENST00000405807.4	-	4	821	c.400G>T	c.(400-402)Gtg>Ttg	p.V134L	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.V134L|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.V262L	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	134					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACCAGGGACACCATTGAGCCA	0.373																																																	0													110	101	104					5																	74722252		2203	4300	6503	SO:0001583	missense	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.400G>T	5.37:g.74722252C>A	ENSP00000383996:p.Val134Leu		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.V262L	ENST00000405807.4	37	c.784	CCDS4028.1	5	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359349	0.41801	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.31510	1.55;1.49;1.54	5.47	5.47	0.80525	.	0.060079	0.64402	D	0.000002	T	0.14098	0.0341	N	0.02296	-0.605	0.48830	D	0.999716	B;B;B	0.12013	0.002;0.005;0.001	B;B;B	0.11329	0.002;0.006;0.003	T	0.16158	-1.0412	10	0.06891	T	0.86	-1.0669	19.3204	0.94236	0.0:1.0:0.0:0.0	.	134;262;134	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	L	134;262;134	ENSP00000383996:V134L;ENSP00000369862:V262L;ENSP00000261415:V134L	ENSP00000261415:V134L	V	-	1	0	COL4A3BP	74758008	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.646000	0.46630	2.558000	0.86282	0.591000	0.81541	GTG	COL4A3BP	-	NULL		0.373	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	C	NM_005713		74722252	-1	no_errors	ENST00000380494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74722252	C	A	74722252	3	1	176	1	0	0	0	0	1	0	0	0	3697	507	18	4	1530	4	COL4A3BP	5	74722252	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	19509395	74722252	106193008	79	33197										
ZFYVE16	9765	genome.wustl.edu	37	chr5	79744022	79744022	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cttctggttcatttacactaGatgatgatgtttttgcagaa	8	6	2	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:79744022G>A	ENST00000338008.5	+	7	3082	c.2902G>A	c.(2902-2904)Gat>Aat	p.D968N	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D968N|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D968N	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	968					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ATTTACACTAGATGATGATGT	0.363																																					Melanoma(150;1452 1854 16018 17851 37292)												0													112	107	109					5																	79744022		2203	4300	6503	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2902G>A	5.37:g.79744022G>A	ENSP00000337159:p.Asp968Asn		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.D968N	ENST00000338008.5	37	c.2902	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567942	0.28003	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.41758	0.99;0.99;0.99	5.56	3.79	0.43588	.	0.906694	0.09490	N	0.795096	T	0.30135	0.0755	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.21690	-1.0238	10	0.29301	T	0.29	-0.859	10.273	0.43493	0.1545:0.0:0.8455:0.0	.	968	Q7Z3T8	ZFY16_HUMAN	N	968	ENSP00000337159:D968N;ENSP00000423663:D968N;ENSP00000426848:D968N	ENSP00000337159:D968N	D	+	1	0	ZFYVE16	79779778	0.572000	0.26668	0.168000	0.22838	0.580000	0.36256	3.487000	0.53222	0.834000	0.34852	0.650000	0.86243	GAT	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin		0.363	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	G	NM_014733		79744022	1	no_errors	ENST00000338008	ensembl	human	known	70_37	missense	SNP	0.011	A	A	79744022	G	A	79744022	3	1	176	1	0	0	0	0	1	0	0	0	17694	942	33	1	2924	1	ZFYVE16	5	79744022	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	5021770	79744022	101171238	80	33198										
MYOT	9499	genome.wustl.edu	37	chr5	137211606	137211606	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	taccaagaactcctgatcatGaaatacaaggatcaaaagaa	6	8	2	4	rs71578935		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:137211606G>A	ENST00000239926.4	+	3	819	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	MYOT_ENST00000509812.1_3'UTR|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_5'UTR|MYOT_ENST00000515645.1_Missense_Mutation_p.E34K	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	149	Necessary for interaction with ACTN1.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCCTGATCATGAAATACAAGG	0.403																																																	0													116	113	114					5																	137211606		2203	4300	6503	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.445G>A	5.37:g.137211606G>A	ENSP00000239926:p.Glu149Lys		A0A4R6|B4DT79	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E149K	ENST00000239926.4	37	c.445	CCDS4194.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.419165	0.96092	.	.	ENSG00000120729	ENST00000239926;ENST00000515645	T;T	0.74526	-0.64;-0.85	5.71	5.71	0.89125	.	0.078523	0.52532	D	0.000066	T	0.75510	0.3859	L	0.53249	1.67	0.39979	D	0.974898	P	0.52842	0.956	P	0.49999	0.628	T	0.71220	-0.4657	10	0.06494	T	0.89	.	19.8546	0.96752	0.0:0.0:1.0:0.0	.	149	Q9UBF9	MYOTI_HUMAN	K	149;34	ENSP00000239926:E149K;ENSP00000426281:E34K	ENSP00000239926:E149K	E	+	1	0	MYOT	137239505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.987000	0.88182	2.697000	0.92050	0.655000	0.94253	GAA	MYOT	-	NULL		0.403	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOT	HGNC	protein_coding	OTTHUMT00000251219.2	G	NM_006790		137211606	1	no_errors	ENST00000239926	ensembl	human	known	70_37	missense	SNP	1.000	A	A	137211606	G	A	137211606	3	1	176	1	0	0	0	0	1	0	0	0	10117	1291	45	1	451	1	MYOT	5	137211606	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	57467584	137211606	43703654	81	33199										
PCDHB7	56129	genome.wustl.edu	37	chr5	140553782	140553782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccgccttcacccaaacctccTacaccctgtttgtccgtgag	6	18	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:140553782T>A	ENST00000231137.3	+	1	1540	c.1366T>A	c.(1366-1368)Tac>Aac	p.Y456N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAAACCTCCTACACCCTGTT	0.602																																																	0													143	137	139					5																	140553782		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1366T>A	5.37:g.140553782T>A	ENSP00000231137:p.Tyr456Asn		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y456N	ENST00000231137.3	37	c.1366	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745805	0.49151	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01613	4.73	4.44	4.44	0.53790	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16854	0.0405	H	0.95950	3.745	0.46185	D	0.998919	D	0.89917	1.0	D	0.97110	1.0	T	0.09271	-1.0682	9	0.87932	D	0	.	13.7057	0.62636	0.0:0.0:0.0:1.0	.	456	Q9Y5E2	PCDB7_HUMAN	N	456;239	ENSP00000231137:Y456N	ENSP00000231137:Y456N	Y	+	1	0	PCDHB7	140533966	0.988000	0.35896	0.995000	0.50966	0.138000	0.21146	3.098000	0.50259	1.761000	0.52028	0.451000	0.29950	TAC	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.602	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	T	NM_018940		140553782	1	no_errors	ENST00000231137	ensembl	human	known	70_37	missense	SNP	0.998	A	A	140553782	T	A	140553782	3	1	176	1	0	0	0	0	1	0	0	0	11571	1522	53	5	1368	5	PCDHB7	5	140553782	Missense_Mutation	SNP	T	TCGA-MY-A5BD-01A-11D-A26G-09	3342176	140553782	40361478	82	33200										
FBXO38	81545	genome.wustl.edu	37	chr5	147820794	147820794	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gatacgactttgaagacgatGaagaaagtaattatgacctg	10	5	0	5			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:147820794G>A	ENST00000340253.5	+	21	3550	c.3382G>A	c.(3382-3384)Gaa>Aaa	p.E1128K	FBXO38_ENST00000296701.6_Missense_Mutation_p.E883K|FBXO38_ENST00000394370.3_Missense_Mutation_p.E1053K|FBXO38_ENST00000513826.1_Missense_Mutation_p.E883K			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1128					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGACGATGAAGAAAGTAA	0.418																																																	0													170	144	153					5																	147820794		2203	4300	6503	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3382G>A	5.37:g.147820794G>A	ENSP00000342023:p.Glu1128Lys		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.E1128K	ENST00000340253.5	37	c.3382		5	.	.	.	.	.	.	.	.	.	.	G	36	5.602011	0.96614	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.35973	1.28;1.35;1.32;1.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	L	0.29908	0.895	0.39707	D	0.971279	D;D;D	0.76494	0.974;0.999;0.996	D;D;D	0.77557	0.953;0.981;0.99	T	0.52079	-0.8623	10	0.62326	D	0.03	-18.6459	18.3358	0.90287	0.0:0.0:1.0:0.0	.	883;1053;1128	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	K	1128;883;1053;883	ENSP00000342023:E1128K;ENSP00000296701:E883K;ENSP00000377895:E1053K;ENSP00000426410:E883K	ENSP00000296701:E883K	E	+	1	0	FBXO38	147800987	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.328000	0.96403	2.750000	0.94351	0.591000	0.81541	GAA	FBXO38	-	NULL		0.418	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	G	NM_030793		147820794	1	no_errors	ENST00000340253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	147820794	G	A	147820794	3	1	176	1	0	0	0	0	1	0	0	0	5764	1291	45	1	3460	1	FBXO38	5	147820794	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	7267012	147820794	33094466	83	33201										
FAM71B	153745	genome.wustl.edu	37	chr5	156589943	156589943	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttcacctgccttgcggtgatGagaacttttcctactgggat	10	10	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:156589943G>C	ENST00000302938.4	-	2	1428	c.1333C>G	c.(1333-1335)Cat>Gat	p.H445D		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	445						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCGGTGATGAGAACTTTTC	0.502																																																	0													168	160	163					5																	156589943		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1333C>G	5.37:g.156589943G>C	ENSP00000305596:p.His445Asp		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.H445D	ENST00000302938.4	37	c.1333	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646193	0.47258	.	.	ENSG00000170613	ENST00000302938	T	0.18810	2.19	4.64	3.68	0.42216	.	0.730266	0.11847	N	0.523663	T	0.27134	0.0665	L	0.58101	1.795	0.19775	N	0.999952	P	0.49961	0.93	P	0.47299	0.543	T	0.08953	-1.0697	10	0.54805	T	0.06	-0.0986	9.3031	0.37858	0.0:0.0:0.786:0.214	.	445	Q8TC56	FA71B_HUMAN	D	445	ENSP00000305596:H445D	ENSP00000305596:H445D	H	-	1	0	FAM71B	156522521	0.900000	0.30661	0.374000	0.26016	0.372000	0.29890	2.651000	0.46674	2.500000	0.84329	0.655000	0.94253	CAT	FAM71B	-	NULL		0.502	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	G	NM_130899		156589943	-1	no_errors	ENST00000302938	ensembl	human	known	70_37	missense	SNP	0.320	C	C	156589943	G	C	156589943	3	2	176	1	0	0	0	0	1	0	0	0	5626	1290	45	1	488	1	FAM71B	5	156589943	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	8769149	156589943	24325317	84	33202										
F13A1	2162	genome.wustl.edu	37	chr6	6167843	6167843	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggcttggatcagcaccgcctCtttcttgactagtaggagaa	11	10	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:6167843C>G	ENST00000264870.3	-	13	2021	c.1756G>C	c.(1756-1758)Gag>Cag	p.E586Q	MIR5683_ENST00000584820.1_RNA	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	586					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGCACCGCCTCTTTCTTGACT	0.517																																																	0													61	49	53					6																	6167843		2203	4300	6503	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1756G>C	6.37:g.6167843C>G	ENSP00000264870:p.Glu586Gln		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E586Q	ENST00000264870.3	37	c.1756	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	C	8.869	0.948722	0.18356	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.68025	-0.3	5.54	3.75	0.43078	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.313283	0.30584	N	0.009304	T	0.36524	0.0970	L	0.59436	1.845	0.28319	N	0.922323	P;B	0.42296	0.775;0.082	B;B	0.36030	0.216;0.031	T	0.15867	-1.0422	10	0.31617	T	0.26	.	6.4328	0.21807	0.1489:0.6986:0.0:0.1526	.	523;586	F5H080;P00488	.;F13A_HUMAN	Q	586;523	ENSP00000264870:E586Q	ENSP00000264870:E586Q	E	-	1	0	F13A1	6112842	0.049000	0.20398	0.725000	0.30721	0.177000	0.22998	0.327000	0.19663	0.693000	0.31634	0.467000	0.42956	GAG	F13A1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.517	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	C	NM_000129		6167843	-1	no_errors	ENST00000264870	ensembl	human	known	70_37	missense	SNP	0.714	G	G	6167843	C	G	6167843	3	3	176	1	0	0	0	0	1	0	0	0	5352	922	32	1	454	1	F13A1	6	6167843	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09		6167843	164947224	85	33203										
ATXN1	6310	genome.wustl.edu	37	chr6	16327563	16327563	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccgccggctcttctccatctCaccgttcaggacctccttgg	8	18	4	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:16327563C>T	ENST00000244769.4	-	8	1915	c.979G>A	c.(979-981)Gag>Aag	p.E327K	ATXN1_ENST00000436367.1_Missense_Mutation_p.E327K	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	327					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCTCCATCTCACCGTTCAGG	0.677																																																	0													40	47	45					6																	16327563		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.979G>A	6.37:g.16327563C>T	ENSP00000244769:p.Glu327Lys		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E327K	ENST00000244769.4	37	c.979	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.427724	0.96131	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.34275	1.37;1.37	5.07	5.07	0.68467	.	0.150485	0.64402	D	0.000017	T	0.51024	0.1650	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.48115	-0.9063	10	0.40728	T	0.16	-26.7638	18.4555	0.90718	0.0:1.0:0.0:0.0	.	327	P54253	ATX1_HUMAN	K	327	ENSP00000244769:E327K;ENSP00000416360:E327K	ENSP00000244769:E327K	E	-	1	0	ATXN1	16435542	1.000000	0.71417	0.961000	0.40146	0.979000	0.70002	7.252000	0.78309	2.353000	0.79882	0.561000	0.74099	GAG	ATXN1	-	NULL		0.677	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	C	NM_000332		16327563	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16327563	C	T	16327563	3	4	176	1	0	0	0	0	1	0	0	0	1210	835	29	1	1476	1	ATXN1	6	16327563	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	10159720	16327563	154787504	86	33204										
NUP153	9972	genome.wustl.edu	37	chr6	17632951	17632951	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttggtagagtctgccttattCtgcactaggcacaattcaca	8	10	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:17632951C>A	ENST00000262077.2	-	17	2588	c.2589G>T	c.(2587-2589)caG>caT	p.Q863H	NUP153_ENST00000537253.1_Missense_Mutation_p.Q894H	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	863					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCCTTATTCTGCACTAGGC	0.448																																																	0													133	123	127					6																	17632951		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2589G>T	6.37:g.17632951C>A	ENSP00000262077:p.Gln863His		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.Q894H	ENST00000262077.2	37	c.2682	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382340	0.61845	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.58060	0.36;0.36	5.58	0.496	0.16896	Zinc finger, RanBP2-type (4);	0.000000	0.48767	D	0.000162	T	0.48114	0.1482	M	0.67569	2.06	0.48571	D	0.999676	B;P;B	0.45531	0.129;0.86;0.169	B;P;B	0.53450	0.106;0.726;0.18	T	0.53913	-0.8371	10	0.72032	D	0.01	0.1402	10.357	0.43969	0.0:0.3799:0.0:0.6201	.	894;843;863	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	H	863;843;894	ENSP00000262077:Q863H;ENSP00000444029:Q894H	ENSP00000262077:Q863H	Q	-	3	2	NUP153	17740930	1.000000	0.71417	0.991000	0.47740	0.854000	0.48673	1.143000	0.31553	0.023000	0.15187	-0.218000	0.12543	CAG	NUP153	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.448	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	C			17632951	-1	no_errors	ENST00000537253	ensembl	human	known	70_37	missense	SNP	0.999	A	A	17632951	C	A	17632951	3	1	176	1	0	0	0	0	1	0	0	0	10779	912	32	3	1862	3	NUP153	6	17632951	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1305388	17632951	153482116	87	33205										
HLA-C	3107	genome.wustl.edu	37	chr6	31239093	31239093	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcgcccgtcgggccccaggtCgcagccagacatcctctgga	13	17	1	1	rs45619135		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:31239093C>G	ENST00000376228.5	-	3	390	c.376G>C	c.(376-378)Gac>Cac	p.D126H	HLA-C_ENST00000383329.3_Missense_Mutation_p.D126H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	126	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCCCAGGTCGCAGCCAGAC	0.726																																																	0													24	21	22					6																	31239093		2159	4184	6343	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.376G>C	6.37:g.31239093C>G	ENSP00000365402:p.Asp126His		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.D163H	ENST00000376228.5	37	c.487	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.691|5.691	0.312086|0.312086	0.10789|0.10789	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.01068|.	5.38;5.38|.	2.81|2.81	-1.58|-1.58	0.08479|0.08479	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.211120|.	0.06714|.	U|.	0.773682|.	T|T	0.50582|0.50582	0.1624|0.1624	H|H	0.96142|0.96142	3.775|3.775	0.09310|0.09310	N|N	1|1	B;D;B;B;B|.	0.89917|.	0.036;1.0;0.004;0.004;0.004|.	B;D;B;B;B|.	0.97110|.	0.07;1.0;0.03;0.03;0.018|.	T|T	0.53136|0.53136	-0.8481|-0.8481	10|6	0.87932|0.87932	D|D	0|0	.|.	2.694|2.694	0.05129|0.05129	0.3104:0.4365:0.1519:0.1012|0.3104:0.4365:0.1519:0.1012	.|.	126;101;126;126;126|.	A2AEA4;Q92671;A6H578;A2AEA2;P10321|.	.;.;.;.;1C07_HUMAN|.	H|P	126;126;126;163|125	ENSP00000365402:D126H;ENSP00000372819:D126H|.	ENSP00000365402:D126H|ENSP00000365412:R120P	D|R	-|-	1|2	0|0	HLA-C|HLA-C	31347072|31347072	0.018000|0.018000	0.18449|0.18449	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	-0.579000|-0.579000	0.05834|0.05834	-0.383000|-0.383000	0.07858|0.07858	-0.708000|-0.708000	0.03648|0.03648	GAC|CGA	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.726	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	C	NM_002117		31239093	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	missense	SNP	0.193	G	G	31239093	C	G	31239093	3	3	176	1	0	0	0	0	1	0	0	0	7217	884	31	1	748	1	HLA-C	6	31239093	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	13606142	31239093	139875974	88	33206										
STK38	11329	genome.wustl.edu	37	chr6	36483160	36483160	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggtttgatgtctctgtggatGaatccaagttggtgaataga	13	4	1	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:36483160G>A	ENST00000229812.7	-	7	909	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGTGGATGAATCCAAGTT	0.428																																					Colon(180;997 3561 16158)												0													254	215	228					6																	36483160		2203	4300	6503	SO:0001819	synonymous_variant	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.624C>T	6.37:g.36483160G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.F208	ENST00000229812.7	37	c.624	CCDS4822.1	6																																																																																			STK38	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.428	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1	G	NM_007271		36483160	-1	no_errors	ENST00000229812	ensembl	human	known	70_37	silent	SNP	1.000	A	A	36483160	G	A	36483160	2	1	176	1	0	0	0	0	0	0	0	1	15333	1281	45	1		1	STK38	6	36483160	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	5244067	36483160	134631907	89	33207										
PGK2	5232	genome.wustl.edu	37	chr6	49754714	49754714	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	accatcaggccgacctagatGactcataagaactactgcct	7	13	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:49754714G>A	ENST00000304801.3	-	1	339	c.187C>T	c.(187-189)Cat>Tat	p.H63Y		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	63	Substrate binding. {ECO:0000250}.				glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CGACCTAGATGACTCATAAGA	0.478																																																	0													200	167	178					6																	49754714		2203	4300	6503	SO:0001583	missense	5232			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.187C>T	6.37:g.49754714G>A	ENSP00000305995:p.His63Tyr		B2R6Y8|Q9H107	Missense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.H63Y	ENST00000304801.3	37	c.187	CCDS4930.1	6	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875823	0.72180	.	.	ENSG00000170950	ENST00000304801	D	0.96491	-4.03	4.09	4.09	0.47781	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	H	0.99911	4.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98074	1.0400	10	0.87932	D	0	-16.3944	14.5839	0.68310	0.0:0.0:1.0:0.0	.	63	P07205	PGK2_HUMAN	Y	63	ENSP00000305995:H63Y	ENSP00000305995:H63Y	H	-	1	0	PGK2	49862673	1.000000	0.71417	0.973000	0.42090	0.967000	0.64934	7.154000	0.77437	2.562000	0.86427	0.585000	0.79938	CAT	PGK2	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase		0.478	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	HGNC	protein_coding	OTTHUMT00000040872.1	G			49754714	-1	no_errors	ENST00000304801	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49754714	G	A	49754714	3	1	176	1	0	0	0	0	1	0	0	0	11815	1290	45	1	1070	1	PGK2	6	49754714	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	13271554	49754714	121360353	90	33208										
DST	667	genome.wustl.edu	37	chr6	56417204	56417204	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aaggcctccaagtcccttttGattccaacaaggtcaggaga	9	11	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:56417204G>A	ENST00000361203.3	-	57	15760	c.15753C>T	c.(15751-15753)atC>atT	p.I5251I	DST_ENST00000370788.2_Silent_p.I3165I|DST_ENST00000370754.5_Silent_p.I5431I|DST_ENST00000244364.6_Silent_p.I2839I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.I5253I|DST_ENST00000446842.2_Silent_p.I4927I|DST_ENST00000421834.2_Silent_p.I3165I			Q03001	DYST_HUMAN	dystonin	5251					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTCCCTTTTGATTCCAACAA	0.458																																																	0													83	79	80					6																	56417204		1908	4109	6017	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15753C>T	6.37:g.56417204G>A			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.I5431	ENST00000361203.3	37	c.16293		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56417204	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56417204	G	A	56417204	2	1	176	1	0	0	0	0	0	0	0	1	4793	1280	45	1		1	DST	6	56417204	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	6662490	56417204	114697863	91	33209			2	136		3	3	1245	G		6.640355e-05
DST	667	genome.wustl.edu	37	chr6	56417638	56417638	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggcctgaagtgatttctgctGagtttgcaacatggtcaggt	13	7	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:56417638G>C	ENST00000361203.3	-	57	15326	c.15319C>G	c.(15319-15321)Cag>Gag	p.Q5107E	DST_ENST00000370788.2_Missense_Mutation_p.Q3021E|DST_ENST00000370754.5_Missense_Mutation_p.Q5287E|DST_ENST00000244364.6_Missense_Mutation_p.Q2695E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.Q5109E|DST_ENST00000446842.2_Missense_Mutation_p.Q4783E|DST_ENST00000421834.2_Missense_Mutation_p.Q3021E			Q03001	DYST_HUMAN	dystonin	5107					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATTTCTGCTGAGTTTGCAAC	0.468																																																	0													122	114	117					6																	56417638		1915	4157	6072	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15319C>G	6.37:g.56417638G>C	ENSP00000354508:p.Gln5107Glu		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q5287E	ENST00000361203.3	37	c.15859		6	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822304	0.50739	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.65364	1.1;-0.1;-0.11;0.04;0.85;0.01;-0.15	6.06	6.06	0.98353	.	0.000000	0.49916	D	0.000129	T	0.75064	0.3799	M	0.79475	2.455	0.24605	N	0.99376	D;D;D;D;D	0.71674	0.989;0.998;0.998;0.983;0.992	D;D;D;P;P	0.85130	0.966;0.928;0.997;0.621;0.888	T	0.67138	-0.5746	9	0.17369	T	0.5	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	3021;5109;5287;5107;2695	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	2695;5287;5109;3021;4783;3021;5107	ENSP00000244364:Q2695E;ENSP00000359790:Q5287E;ENSP00000359805:Q5109E;ENSP00000400883:Q3021E;ENSP00000393645:Q4783E;ENSP00000359824:Q3021E;ENSP00000354508:Q5107E	ENSP00000244364:Q2695E	Q	-	1	0	DST	56525597	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	8.030000	0.88816	2.882000	0.98803	0.655000	0.94253	CAG	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.468	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56417638	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56417638	G	C	56417638	3	2	176	1	0	0	0	0	1	0	0	0	4793	1299	45	1	7604	1	DST	6	56417638	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	434	56417638	114697429	92	33210			2	136		3	3	1245	G		6.640355e-05
DST	667	genome.wustl.edu	37	chr6	56418448	56418448	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cgactgaaggtgctggacatGattctctagaaataaaatta	9	6	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:56418448G>T	ENST00000361203.3	-	57	14516	c.14509C>A	c.(14509-14511)Cat>Aat	p.H4837N	DST_ENST00000370788.2_Missense_Mutation_p.H2751N|DST_ENST00000370754.5_Missense_Mutation_p.H5017N|DST_ENST00000244364.6_Missense_Mutation_p.H2425N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.H4839N|DST_ENST00000446842.2_Missense_Mutation_p.H4513N|DST_ENST00000421834.2_Missense_Mutation_p.H2751N			Q03001	DYST_HUMAN	dystonin	4837					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTGGACATGATTCTCTAGA	0.318																																																	0													40	38	38					6																	56418448		1809	4083	5892	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14509C>A	6.37:g.56418448G>T	ENSP00000354508:p.His4837Asn		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.H5017N	ENST00000361203.3	37	c.15049		6	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866516	0.32977	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.61	5.61	0.85477	.	0.000000	0.53938	D	0.000043	T	0.51346	0.1669	L	0.60455	1.87	0.25390	N	0.98854	D;D;D;B;B	0.63046	0.988;0.983;0.992;0.167;0.209	P;P;D;B;B	0.67725	0.714;0.837;0.953;0.068;0.429	T	0.49615	-0.8921	9	0.66056	D	0.02	.	20.0016	0.97412	0.0:0.0:1.0:0.0	.	2751;4839;5017;4837;2425	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	2425;5017;4839;2751;4513;2751;4837	ENSP00000244364:H2425N;ENSP00000359790:H5017N;ENSP00000359805:H4839N;ENSP00000400883:H2751N;ENSP00000393645:H4513N;ENSP00000359824:H2751N;ENSP00000354508:H4837N	ENSP00000244364:H2425N	H	-	1	0	DST	56526407	1.000000	0.71417	0.996000	0.52242	0.257000	0.26127	6.426000	0.73374	2.802000	0.96397	0.655000	0.94253	CAT	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56418448	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56418448	G	T	56418448	3	4	176	1	0	0	0	0	1	0	0	0	4793	1290	45	3	8414	3	DST	6	56418448	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	810	56418448	114696619	93	33211			2	136		3	3	1245	G		6.640355e-05
COL9A1	1297	genome.wustl.edu	37	chr6	70991093	70991093	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcctggagatagaaacttacGtcgatgccatcgatgcctgg	12	10	0	2	rs199570724		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:70991093G>A	ENST00000357250.6	-	8	1034	c.876C>T	c.(874-876)gaC>gaT	p.D292D	COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370496.3_Splice_Site_p.D292D|COL9A1_ENST00000370499.4_Splice_Site_p.D49D|COL9A1_ENST00000320755.7_Splice_Site_p.D49D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	292	Collagen-like 1.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGAAACTTACGTCGATGCCAT	0.562													G|||	1	0.000199681	0	0	5008	,	,		15393	0		0.001	False		,,,				2504	0																0								G	,	0,4406		0,0,2203	27	30	29		876,147	-2	1	6		29	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	COL9A1	NM_001851.4,NM_078485.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	292/922,49/679	70991093	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.876+1C>T	6.37:g.70991093G>A			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.D292	ENST00000357250.6	37	c.876	CCDS4971.1	6																																																																																			COL9A1	-	pfam_Collagen		0.562	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	G		Silent	70991093	-1	no_errors	ENST00000357250	ensembl	human	known	70_37	silent	SNP	0.987	A	A	70991093	G	A	70991093	5	1	176	1	0	0	0	0	0	0	1	0	3712	1159	40	2	2013	2	COL9A1	6	70991093	Splice_Site	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	14572645	70991093	100123974	94	33212										
IBTK	25998	genome.wustl.edu	37	chr6	82912252	82912252	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcacctcacctaccttgcttCaagtaaagctgccatattca	5	14	3	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:82912252C>T	ENST00000306270.7	-	18	3271	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K	IBTK_ENST00000510291.1_Missense_Mutation_p.E908K|IBTK_ENST00000503631.1_Missense_Mutation_p.E707K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	908					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TACCTTGCTTCAAGTAAAGCT	0.323																																																	0													128	133	132					6																	82912252		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2722G>A	6.37:g.82912252C>T	ENSP00000305721:p.Glu908Lys		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.E908K	ENST00000306270.7	37	c.2722	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024756	0.93518	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.33865	1.75;1.39;1.76	5.56	5.56	0.83823	.	0.168937	0.52532	D	0.000069	T	0.55924	0.1951	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.999	D;P;D;P	0.69654	0.909;0.853;0.965;0.892	T	0.58918	-0.7551	10	0.54805	T	0.06	-24.6337	17.7095	0.88318	0.0:1.0:0.0:0.0	.	707;908;908;908	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	K	908;707;908	ENSP00000305721:E908K;ENSP00000422762:E707K;ENSP00000426405:E908K	ENSP00000305721:E908K	E	-	1	0	IBTK	82968971	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.431000	0.80335	2.604000	0.88044	0.585000	0.79938	GAA	IBTK	-	NULL		0.323	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	C	NM_015525		82912252	-1	no_errors	ENST00000306270	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82912252	C	T	82912252	3	4	176	1	0	0	0	0	1	0	0	0	7496	835	29	1	1387	1	IBTK	6	82912252	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	11921159	82912252	88202815	95	33213										
SYNCRIP	10492	genome.wustl.edu	37	chr6	86349998	86349998	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tactttggtcccttgtttttCtctctgcctgtaagtcttca	6	11	4	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:86349998C>T	ENST00000369622.3	-	4	816	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.E106K	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	106					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCTTGTTTTTCTCTCTGCCTG	0.328																																																	0													185	178	180					6																	86349998		2203	4300	6503	SO:0001583	missense	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.316G>A	6.37:g.86349998C>T	ENSP00000358635:p.Glu106Lys		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E106K	ENST00000369622.3	37	c.316	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250202	0.80024	.	.	ENSG00000135316	ENST00000355238;ENST00000369622;ENST00000444272	T;T	0.27104	1.69;1.69	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	L	0.55743	1.74	0.80722	D	1	B;B;B;P;B;B	0.45348	0.149;0.232;0.077;0.856;0.232;0.23	B;B;B;P;B;B	0.52881	0.032;0.07;0.032;0.712;0.07;0.053	T	0.02781	-1.1111	10	0.07813	T	0.8	.	18.8312	0.92141	0.0:1.0:0.0:0.0	.	106;106;8;106;106;106	O60506;O60506-2;B7Z645;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.	K	106	ENSP00000347380:E106K;ENSP00000358635:E106K	ENSP00000347380:E106K	E	-	1	0	SYNCRIP	86406717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.528000	0.85240	0.655000	0.94253	GAA	SYNCRIP	-	tigrfam_HnRNP_R/Q_splicing_fac		0.328	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	C	NM_006372		86349998	-1	no_errors	ENST00000369622	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86349998	C	T	86349998	3	4	176	1	0	0	0	0	1	0	0	0	15474	922	32	1	1633	1	SYNCRIP	6	86349998	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3437746	86349998	84765069	96	33214										
PNRC1	10957	genome.wustl.edu	37	chr6	89790830	89790830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cgtgtctgaccccccagcctCgcgctccagcagctctgccc	9	21	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:89790830C>T	ENST00000336032.3	+	1	334	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	PNRC1_ENST00000354922.3_5'Flank|PNRC1_ENST00000369472.1_Intron|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CCCCCAGCCTCGCGCTCCAGC	0.706										Multiple Myeloma(7;0.094)																																							0													12	14	13					6																	89790830		2200	4290	6490	SO:0001583	missense	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.217C>T	6.37:g.89790830C>T	ENSP00000336931:p.Arg73Cys		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	NULL	p.R73C	ENST00000336032.3	37	c.217	CCDS5018.1	6	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080339	0.36662	.	.	ENSG00000146278	ENST00000336032	T	0.47528	0.84	4.93	4.05	0.47172	.	0.279283	0.29861	N	0.011018	T	0.38054	0.1026	L	0.44542	1.39	0.24876	N	0.992257	D;D	0.71674	0.998;0.998	P;P	0.59288	0.736;0.855	T	0.18178	-1.0345	10	0.59425	D	0.04	-2.6705	8.4979	0.33138	0.1526:0.7678:0.0:0.0796	.	73;73	Q12796;Q7Z5N0	PNRC1_HUMAN;.	C	73	ENSP00000336931:R73C	ENSP00000336931:R73C	R	+	1	0	PNRC1	89847549	0.978000	0.34361	0.056000	0.19401	0.028000	0.11728	3.073000	0.50057	1.276000	0.44395	0.555000	0.69702	CGC	PNRC1	-	NULL		0.706	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNRC1	HGNC	protein_coding	OTTHUMT00000041471.1	C	NM_006813		89790830	1	no_errors	ENST00000336032	ensembl	human	known	70_37	missense	SNP	0.115	T	T	89790830	C	T	89790830	3	4	176	1	0	0	0	0	1	0	0	0	12198	884	31	1	219	1	PNRC1	6	89790830	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3440832	89790830	81324237	97	33215										
MDN1	23195	genome.wustl.edu	37	chr6	90377756	90377756	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttcttcatttccgatctggtCactcacatccttcatgccct	4	15	6	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:90377756C>T	ENST00000369393.3	-	84	14186	c.14071G>A	c.(14071-14073)Gac>Aac	p.D4691N	MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.D4691N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4691					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCGATCTGGTCACTCACATCC	0.418																																																	0													271	205	228					6																	90377756		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14071G>A	6.37:g.90377756C>T	ENSP00000358400:p.Asp4691Asn		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D4691N	ENST00000369393.3	37	c.14071	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959411	0.92726	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04049	3.72;3.72	5.86	5.86	0.93980	.	0.054975	0.64402	D	0.000001	T	0.11580	0.0282	M	0.83012	2.62	0.80722	D	1	P	0.52577	0.954	P	0.50659	0.647	T	0.01596	-1.1316	10	0.45353	T	0.12	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	4691	Q9NU22	MDN1_HUMAN	N	4691	ENSP00000358400:D4691N;ENSP00000413970:D4691N	ENSP00000358400:D4691N	D	-	1	0	MDN1	90434477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	GAC	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.418	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90377756	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90377756	C	T	90377756	3	4	176	1	0	0	0	0	1	0	0	0	9438	826	29	1	2795	1	MDN1	6	90377756	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	586926	90377756	80737311	98	33216										
GJA10	84694	genome.wustl.edu	37	chr6	90605391	90605391	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	caggtgagcctctcacagatCttcatagtcactgcagagac	9	12	4	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:90605391C>T	ENST00000369352.1	+	1	1204	c.1204C>T	c.(1204-1206)Ctt>Ttt	p.L402F	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	189					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.L402I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTCACAGATCTTCATAGTCA	0.552																																																	1	Substitution - Missense(1)	lung(1)											72	72	72					6																	90605391		2203	4300	6503	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1204C>T	6.37:g.90605391C>T	ENSP00000358358:p.Leu402Phe		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.L402F	ENST00000369352.1	37	c.1204	CCDS5025.1	6	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526691	0.44969	.	.	ENSG00000135355	ENST00000369352	D	0.97994	-4.65	5.6	-3.79	0.04320	.	1.439040	0.04732	N	0.421292	D	0.84633	0.5515	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.17722	0.019	T	0.82961	-0.0197	10	0.09590	T	0.72	.	1.0545	0.01587	0.4073:0.2137:0.2073:0.1716	.	402	Q969M2	CXA10_HUMAN	F	402	ENSP00000358358:L402F	ENSP00000358358:L402F	L	+	1	0	GJA10	90662112	0.000000	0.05858	0.042000	0.18584	0.458000	0.32498	-0.411000	0.07142	-0.342000	0.08363	0.563000	0.77884	CTT	GJA10	-	NULL		0.552	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	HGNC	protein_coding	OTTHUMT00000041505.1	C	NM_032602		90605391	1	no_errors	ENST00000369352	ensembl	human	known	70_37	missense	SNP	0.003	T	T	90605391	C	T	90605391	3	4	176	1	0	0	0	0	1	0	0	0	6420	913	32	1	1206	1	GJA10	6	90605391	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	227635	90605391	80509676	99	33217										
GPR63	81491	genome.wustl.edu	37	chr6	97246639	97246639	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aatggggcccagcagacaatGaagacagcaaagagaatcaa	11	8	1	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:97246639G>C	ENST00000229955.3	-	2	1314	c.969C>G	c.(967-969)ttC>ttG	p.F323L	RP3-417O22.3_ENST00000442184.1_RNA|GPR63_ENST00000417980.1_Missense_Mutation_p.F323L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGCAGACAATGAAGACAGCAA	0.448																																																	0													108	90	96					6																	97246639		2203	4300	6503	SO:0001583	missense	81491			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.969C>G	6.37:g.97246639G>C	ENSP00000229955:p.Phe323Leu		Q9UJH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F323L	ENST00000229955.3	37	c.969	CCDS5036.1	6	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333928	0.60853	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.56611	0.45;0.45;0.45	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	H	0.94345	3.525	0.58432	D	0.999994	D	0.76494	0.999	D	0.74674	0.984	T	0.81331	-0.0981	10	0.87932	D	0	-10.1458	12.4686	0.55773	0.0774:0.0:0.9226:0.0	.	323	Q9BZJ6	GPR63_HUMAN	L	347;323;323;323	ENSP00000393170:F323L;ENSP00000229955:F323L;ENSP00000358273:F323L	ENSP00000229955:F323L	F	-	3	2	GPR63	97353360	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.121000	0.57904	2.595000	0.87683	0.650000	0.86243	TTC	GPR63	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2	G			97246639	-1	no_errors	ENST00000229955	ensembl	human	known	70_37	missense	SNP	1.000	C	C	97246639	G	C	97246639	3	2	176	1	0	0	0	0	1	0	0	0	6723	1281	45	1	294	1	GPR63	6	97246639	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	6641248	97246639	73868428	100	33218										
SIM1	6492	genome.wustl.edu	37	chr6	100896461	100896461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gggaggcagcgagtggcccaCggccaccaggcccacgtttt	15	14	0	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:100896461C>T	ENST00000369208.3	-	7	1419	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	SIM1_ENST00000262901.4_Missense_Mutation_p.V213M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	213					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGTGGCCCACGGCCACCAGG	0.592																																																	0													54	50	52					6																	100896461		2203	4300	6503	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.637G>A	6.37:g.100896461C>T	ENSP00000358210:p.Val213Met		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.V213M	ENST00000369208.3	37	c.637	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.237026	0.95240	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.74842	-0.88;-0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85879	0.1421	10	0.51188	T	0.08	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	213	P81133	SIM1_HUMAN	M	213	ENSP00000358210:V213M;ENSP00000262901:V213M	ENSP00000262901:V213M	V	-	1	0	SIM1	101003182	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.487000	0.81328	2.614000	0.88457	0.655000	0.94253	GTG	SIM1	-	NULL		0.592	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	C	NM_005068		100896461	-1	no_errors	ENST00000262901	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100896461	C	T	100896461	3	4	176	1	0	0	0	0	1	0	0	0	14353	536	19	2	1687	2	SIM1	6	100896461	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3649822	100896461	70218606	101	33219										
ARHGAP18	93663	genome.wustl.edu	37	chr6	129950525	129950525	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtggcatcatcgcctttgctCttctggattttctccttgga	9	11	4	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:129950525C>T	ENST00000368149.2	-	5	847	c.759G>A	c.(757-759)aaG>aaA	p.K253K		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CGCCTTTGCTCTTCTGGATTT	0.408																																																	0													130	128	128					6																	129950525		2203	4300	6503	SO:0001819	synonymous_variant	93663			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.759G>A	6.37:g.129950525C>T				Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K253	ENST00000368149.2	37	c.759	CCDS34535.1	6																																																																																			ARHGAP18	-	NULL		0.408	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	C	NM_033515		129950525	-1	no_errors	ENST00000275189	ensembl	human	known	70_37	silent	SNP	0.002	T	T	129950525	C	T	129950525	2	4	176	1	0	0	0	0	0	0	0	1	868	912	32	1		1	ARHGAP18	6	129950525	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	29054064	129950525	41164542	102	33220										
ENPP1	5167	genome.wustl.edu	37	chr6	132189247	132189247	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttgcacagatgcctgaacctCatccttatttcagatcatgg	7	11	3	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:132189247C>A	ENST00000360971.2	+	12	1274	c.1254C>A	c.(1252-1254)ctC>ctA	p.L418L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	418	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GCCTGAACCTCATCCTTATTT	0.403																																					Colon(104;336 1535 5856 11019 33782)												0													218	200	206					6																	132189247		2203	4300	6503	SO:0001819	synonymous_variant	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1254C>A	6.37:g.132189247C>A			Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.L418	ENST00000360971.2	37	c.1254	CCDS5150.2	6																																																																																			ENPP1	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.403	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	C			132189247	1	no_errors	ENST00000360971	ensembl	human	known	70_37	silent	SNP	1.000	A	A	132189247	C	A	132189247	2	1	176	1	0	0	0	0	0	0	0	1	5141	813	29	3		3	ENPP1	6	132189247	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2238722	132189247	38925820	103	33221										
TAB2	23118	genome.wustl.edu	37	chr6	149699241	149699241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aaggagacttgaatttttcaGatgattctggaatttctggt	10	4	3	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:149699241G>C	ENST00000367456.1	+	4	767	c.190G>C	c.(190-192)Gat>Cat	p.D64H	TAB2_ENST00000536230.1_Missense_Mutation_p.D32H|TAB2_ENST00000392282.1_Missense_Mutation_p.D64H|TAB2_ENST00000538427.1_Missense_Mutation_p.D64H|TAB2_ENST00000286332.5_Missense_Mutation_p.D64H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	64					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GAATTTTTCAGATGATTCTGG	0.388																																																	0													93	87	89					6																	149699241		2203	4300	6503	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.190G>C	6.37:g.149699241G>C	ENSP00000356426:p.Asp64His		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.D64H	ENST00000367456.1	37	c.190	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	G	11.80	1.748209	0.30955	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.77620	-1.11;-1.08;-1.09;-1.09;-1.09	5.82	5.82	0.92795	.	0.136352	0.64402	D	0.000004	D	0.83464	0.5260	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61397	0.888;0.888	D	0.84221	0.0461	10	0.87932	D	0	-14.9087	20.1064	0.97896	0.0:0.0:1.0:0.0	.	32;64	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	H	32;64;64;64;64	ENSP00000443206:D32H;ENSP00000376106:D64H;ENSP00000445752:D64H;ENSP00000356426:D64H;ENSP00000286332:D64H	ENSP00000286332:D64H	D	+	1	0	TAB2	149740934	1.000000	0.71417	0.984000	0.44739	0.157000	0.22087	7.139000	0.77314	2.745000	0.94114	0.650000	0.86243	GAT	TAB2	-	NULL		0.388	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	G			149699241	1	no_errors	ENST00000286332	ensembl	human	known	70_37	missense	SNP	0.998	C	C	149699241	G	C	149699241	3	2	176	1	0	0	0	0	1	0	0	0	15526	942	33	1	196	1	TAB2	6	149699241	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	17509994	149699241	21415826	104	33222										
SLC22A2	6582	genome.wustl.edu	37	chr6	160662520	160662520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcttaccgaaaaccatcagcGggagctcaagccagatgtta	9	11	3	1	rs369166212		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:160662520G>A	ENST00000366953.3	-	9	1745	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	496					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.P496R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	AACCATCAGCGGGAGCTCAAG	0.438													G|||	1	0.000199681	0	0	5008	,	,		16850	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)						G	LEU/PRO	0,4406		0,0,2203	97	84	88		1487	4.4	0.6	6		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC22A2	NM_003058.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	496/556	160662520	1,13005	2203	4300	6503	SO:0001583	missense	6582			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1487C>T	6.37:g.160662520G>A	ENSP00000355920:p.Pro496Leu		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.P496L	ENST00000366953.3	37	c.1487	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329750	0.81690	0.0	1.16E-4	ENSG00000112499	ENST00000366953	T	0.73789	-0.78	4.44	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	H	0.97265	3.97	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.93555	0.6890	10	0.87932	D	0	.	17.6065	0.88039	0.0:0.0:1.0:0.0	.	496	O15244	S22A2_HUMAN	L	496	ENSP00000355920:P496L	ENSP00000355920:P496L	P	-	2	0	SLC22A2	160582510	1.000000	0.71417	0.631000	0.29282	0.846000	0.48090	9.457000	0.97630	2.459000	0.83118	0.557000	0.71058	CCG	SLC22A2	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.438	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	G	NM_003058		160662520	-1	no_errors	ENST00000366953	ensembl	human	known	70_37	missense	SNP	1.000	A	A	160662520	G	A	160662520	3	1	176	1	0	0	0	0	1	0	0	0	14480	1116	39	2	192	2	SLC22A2	6	160662520	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	10963279	160662520	10452547	105	33223										
EIF3B	8662	genome.wustl.edu	37	chr7	2419073	2419073	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcaacgtggacgactgggaaGaggagaccattgagttcttc	14	8	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:2419073G>T	ENST00000360876.4	+	18	2442	c.2386G>T	c.(2386-2388)Gag>Tag	p.E796*	EIF3B_ENST00000397011.2_Nonsense_Mutation_p.E796*	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CGACTGGGAAGAGGAGACCAT	0.607																																																	0													66	55	59					7																	2419073		2203	4300	6503	SO:0001587	stop_gained	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.2386G>T	7.37:g.2419073G>T	ENSP00000354125:p.Glu796*			Nonsense_Mutation	SNP	pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom	p.E796*	ENST00000360876.4	37	c.2386	CCDS5332.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.516929	0.97629	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	.	.	.	5.82	5.82	0.92795	.	0.045890	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-52.8022	20.1013	0.97878	0.0:0.0:1.0:0.0	.	.	.	.	X	796;796;796;720	.	ENSP00000316638:E796X	E	+	1	0	EIF3B	2385599	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	9.287000	0.95975	2.748000	0.94277	0.655000	0.94253	GAG	EIF3B	-	pirsf_eIF3b		0.607	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1	G			2419073	1	no_errors	ENST00000360876	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	2419073	G	T	2419073	4	4	176	1	0	0	0	0	0	1	0	0	5023	943	33	3	2456	3	EIF3B	7	2419073	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		2419073	156719590	106	33224										
SDK1	221935	genome.wustl.edu	37	chr7	3991463	3991463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	caccatcagcaacccgacgtCcgcggacaccgggccatacg	10	18	1	0	rs144614861	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:3991463C>T	ENST00000404826.2	+	7	1200	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	SDK1_ENST00000389531.3_Missense_Mutation_p.S354F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	354	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AACCCGACGTCCGCGGACACC	0.612													C|||	2	0.000399361	0	0	5008	,	,		16909	0		0.001	False		,,,				2504	0.001																0								C	PHE/SER	0,4406		0,0,2203	64	60	62		1061	4.9	0	7	dbSNP_134	62	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SDK1	NM_152744.3	155	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	354/2214	3991463	2,13004	2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1061C>T	7.37:g.3991463C>T	ENSP00000385899:p.Ser354Phe		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S354F	ENST00000404826.2	37	c.1061	CCDS34590.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.324428|2.324428	0.41197|0.41197	0.0|0.0	2.33E-4|2.33E-4	ENSG00000146555|ENSG00000146555	ENST00000426596|ENST00000404826;ENST00000389531	.|T;T	.|0.03358	.|3.96;3.96	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.13543|0.13543	0.0328|0.0328	L|L	0.47716|0.47716	1.5|1.5	0.19775|0.19775	N|N	0.999954|0.999954	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.01382|0.01382	-1.1369|-1.1369	5|10	.|0.56958	.|D	.|0.05	.|.	16.5463|16.5463	0.84446|0.84446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|354	.|Q7Z5N4	.|SDK1_HUMAN	S|F	73|354	.|ENSP00000385899:S354F;ENSP00000374182:S354F	.|ENSP00000374182:S354F	P|S	+|+	1|2	0|0	SDK1|SDK1	3957989|3957989	0.528000|0.528000	0.26314|0.26314	0.014000|0.014000	0.15608|0.15608	0.208000|0.208000	0.24298|0.24298	3.121000|3.121000	0.50438|0.50438	2.410000|2.410000	0.81850|0.81850	0.655000|0.655000	0.94253|0.94253	CCG|TCC	SDK1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	C	NM_152744		3991463	1	no_errors	ENST00000404826	ensembl	human	known	70_37	missense	SNP	0.057	T	T	3991463	C	T	3991463	3	4	176	1	0	0	0	0	1	0	0	0	13998	855	30	1	1087	1	SDK1	7	3991463	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1572390	3991463	155147200	107	33225										
PMS2	5395	genome.wustl.edu	37	chr7	6027075	6027075	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tagagggctccttcttggttCtggagtctttgggctgtgag	15	7	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:6027075C>T	ENST00000265849.7	-	11	1426	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	PMS2_ENST00000441476.2_Missense_Mutation_p.E335K|PMS2_ENST00000406569.3_Missense_Mutation_p.E441K|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	441					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTCTTGGTTCTGGAGTCTTT	0.502			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													65	61	62					7																	6027075		2203	4300	6503	SO:0001583	missense	5395	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1321G>A	7.37:g.6027075C>T	ENSP00000265849:p.Glu441Lys		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.E441K	ENST00000265849.7	37	c.1321	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	c	5.861	0.343115	0.11069	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85484	1.09;1.09;-1.99	5.37	4.27	0.50696	.	1.584890	0.03317	N	0.191427	T	0.75982	0.3924	L	0.38531	1.155	0.09310	N	1	B;B;B	0.13594	0.008;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.004	T	0.64219	-0.6459	10	0.05959	T	0.93	-4.5308	3.9955	0.09556	0.0:0.6748:0.0:0.3252	.	441;441;335	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	K	441;394;335;441	ENSP00000265849:E441K;ENSP00000392843:E335K;ENSP00000384308:E441K	ENSP00000265849:E441K	E	-	1	0	PMS2	5993601	0.080000	0.21391	0.020000	0.16555	0.010000	0.07245	1.554000	0.36266	2.689000	0.91719	0.650000	0.86243	GAA	PMS2	-	NULL		0.502	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	C	NM_000535		6027075	-1	no_errors	ENST00000265849	ensembl	human	known	70_37	missense	SNP	0.090	T	T	6027075	C	T	6027075	3	4	176	1	0	0	0	0	1	0	0	0	12167	922	32	1	1287	1	PMS2	7	6027075	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2035612	6027075	153111588	108	33226										
POLD2	5425	genome.wustl.edu	37	chr7	44155465	44155465	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctgtatcggaaaatgtcactCacgttctgtcctgatgtccc	8	12	3	1	rs374181613		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:44155465C>G	ENST00000406581.2	-	10	1696	c.1047G>C	c.(1045-1047)gtG>gtC	p.V349V	POLD2_ENST00000452185.1_Silent_p.V349V|POLD2_ENST00000223361.3_Silent_p.V349V	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	349					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						AAATGTCACTCACGTTCTGTC	0.562																																																	0													170	152	158					7																	44155465		2203	4300	6503	SO:0001819	synonymous_variant	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1047G>C	7.37:g.44155465C>G			A4D2J4|B2R5S4	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.V349	ENST00000406581.2	37	c.1047	CCDS5477.1	7																																																																																			POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu		0.562	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	C	NM_001127218		44155465	-1	no_errors	ENST00000406581	ensembl	human	known	70_37	silent	SNP	1.000	G	G	44155465	C	G	44155465	2	3	176	1	0	0	0	0	0	0	0	1	12215	813	29	1		1	POLD2	7	44155465	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	38128390	44155465	114983198	109	33227										
MDH2	4191	genome.wustl.edu	37	chr7	75689770	75689770	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	caacaaaatcttcggcgtgaCgaccctggacatcgtcagag	10	12	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:75689770C>G	ENST00000315758.5	+	5	603	c.509C>G	c.(508-510)aCg>aGg	p.T170R	MDH2_ENST00000443006.1_Missense_Mutation_p.T63R|MDH2_ENST00000432020.2_Intron	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	170					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						TTCGGCGTGACGACCCTGGAC	0.527																																																	0													145	120	128					7																	75689770		2203	4300	6503	SO:0001583	missense	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.509C>G	7.37:g.75689770C>G	ENSP00000327070:p.Thr170Arg		A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	p.T170R	ENST00000315758.5	37	c.509	CCDS5581.1	7	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675187	0.88445	.	.	ENSG00000146701	ENST00000315758;ENST00000443006	D;D	0.87966	-2.32;-2.32	5.93	5.93	0.95920	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96735	0.9542	10	0.87932	D	0	-27.2939	19.341	0.94340	0.0:1.0:0.0:0.0	.	170	P40926	MDHM_HUMAN	R	170;63	ENSP00000327070:T170R;ENSP00000416929:T63R	ENSP00000327070:T170R	T	+	2	0	MDH2	75527706	1.000000	0.71417	0.974000	0.42286	0.660000	0.38997	7.672000	0.83956	2.815000	0.96918	0.650000	0.86243	ACG	MDH2	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1		0.527	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH2	HGNC	protein_coding	OTTHUMT00000252851.1	C			75689770	1	no_errors	ENST00000315758	ensembl	human	known	70_37	missense	SNP	1.000	G	G	75689770	C	G	75689770	3	3	176	1	0	0	0	0	1	0	0	0	9433	536	19	2	527	2	MDH2	7	75689770	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	31534305	75689770	83448893	110	33228										
CYP3A7	1551	genome.wustl.edu	37	chr7	99305594	99305594	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttgtccttgttctttttactGaacctggttccatattggta	7	8	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:99305594G>A	ENST00000336374.2	-	12	1259	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	419					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCTTTTTACTGAACCTGGTTC	0.398																																																	0													333	299	310					7																	99305594		2203	4300	6503	SO:0001819	synonymous_variant	1551			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1257C>T	7.37:g.99305594G>A			A4D288|Q9H241	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.F419	ENST00000336374.2	37	c.1257	CCDS5673.1	7																																																																																			CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.398	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	G			99305594	-1	no_errors	ENST00000336374	ensembl	human	known	70_37	silent	SNP	1.000	A	A	99305594	G	A	99305594	2	1	176	1	0	0	0	0	0	0	0	1	4186	1281	45	1		1	CYP3A7	7	99305594	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	23615824	99305594	59833069	111	33229										
CUX1	1523	genome.wustl.edu	37	chr7	101845035	101845035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aggtgggccgcagcggtgccTggaaggaccactggtggagc	19	10	0	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:101845035T>C	ENST00000292535.7	+	18	2496	c.2458T>C	c.(2458-2460)Tgg>Cgg	p.W820R	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.W662R|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.W831R|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.W798R|CUX1_ENST00000550008.2_Missense_Mutation_p.W764R|CUX1_ENST00000546411.2_Missense_Mutation_p.W718R|CUX1_ENST00000560541.1_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	820					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCGGTGCCTGGAAGGACCA	0.672																																																	0													21	25	24					7																	101845035		2202	4300	6502	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2458T>C	7.37:g.101845035T>C	ENSP00000292535:p.Trp820Arg		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.W831R	ENST00000292535.7	37	c.2491	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743618	0.69418	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.65732	-0.08;-0.11;-0.15;-0.16;-0.11;-0.17	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.71912	-0.4449	10	0.16896	T	0.51	-10.1355	15.5141	0.75809	0.0:0.0:0.0:1.0	.	820;831	P39880;P39880-3	CUX1_HUMAN;.	R	831;820;798;764;718;662	ENSP00000353401:W831R;ENSP00000292535:W820R;ENSP00000446630:W798R;ENSP00000447373:W764R;ENSP00000450125:W718R;ENSP00000451558:W662R	ENSP00000292535:W820R	W	+	1	0	CUX1	101631755	1.000000	0.71417	0.912000	0.35992	0.415000	0.31203	7.393000	0.79851	2.071000	0.62044	0.533000	0.62120	TGG	CUX1	-	NULL		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	T	NM_001913		101845035	1	no_errors	ENST00000360264	ensembl	human	known	70_37	missense	SNP	0.998	C	C	101845035	T	C	101845035	3	2	176	1	0	0	0	0	1	0	0	0	4069	1580	55	5	2595	5	CUX1	7	101845035	Missense_Mutation	SNP	T	TCGA-MY-A5BD-01A-11D-A26G-09	2539441	101845035	57293628	112	33230										
PTPRZ1	5803	genome.wustl.edu	37	chr7	121652558	121652558	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aaactcagagccagcatcctCtgaccctgcttctagtgaaa	7	13	3	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:121652558C>G	ENST00000393386.2	+	12	3869	c.3458C>G	c.(3457-3459)tCt>tGt	p.S1153C	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1153					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCAGCATCCTCTGACCCTGCT	0.408																																																	0													186	181	183					7																	121652558		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3458C>G	7.37:g.121652558C>G	ENSP00000377047:p.Ser1153Cys		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S1153C	ENST00000393386.2	37	c.3458	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887913	0.52014	.	.	ENSG00000106278	ENST00000393386	T	0.50277	0.75	5.51	5.51	0.81932	.	0.089029	0.49305	D	0.000156	T	0.65059	0.2655	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.68036	-0.5515	10	0.72032	D	0.01	.	13.672	0.62432	0.0:0.9259:0.0:0.0741	.	1153	P23471	PTPRZ_HUMAN	C	1153	ENSP00000377047:S1153C	ENSP00000377047:S1153C	S	+	2	0	PTPRZ1	121439794	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.345000	0.44018	2.573000	0.86826	0.555000	0.69702	TCT	PTPRZ1	-	NULL		0.408	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	C	NM_002851		121652558	1	no_errors	ENST00000393386	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121652558	C	G	121652558	3	3	176	1	0	0	0	0	1	0	0	0	12844	913	32	1	3504	1	PTPRZ1	7	121652558	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	19807523	121652558	37486105	113	33231										
DENND2A	27147	genome.wustl.edu	37	chr7	140266969	140266969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agacacaaccacaaagtactCgaagagctgcctctcctggt	8	13	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:140266969C>T	ENST00000275884.6	-	8	2113	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	DENND2A_ENST00000492720.1_Missense_Mutation_p.E566K|DENND2A_ENST00000537639.1_Missense_Mutation_p.E566K|DENND2A_ENST00000496613.1_Missense_Mutation_p.E566K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	566					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ACAAAGTACTCGAAGAGCTGC	0.597																																																	0													37	41	40					7																	140266969		1915	4139	6054	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1696G>A	7.37:g.140266969C>T	ENSP00000275884:p.Glu566Lys		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E566K	ENST00000275884.6	37	c.1696	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.738957	0.96873	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.17054	3.05;3.05;3.05;2.3	5.86	5.86	0.93980	uDENN (2);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.969	T	0.18745	-1.0327	10	0.72032	D	0.01	-31.7271	20.1772	0.98182	0.0:1.0:0.0:0.0	.	566;566	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	K	566	ENSP00000275884:E566K;ENSP00000442245:E566K;ENSP00000419654:E566K;ENSP00000419464:E566K	ENSP00000275884:E566K	E	-	1	0	DENND2A	139913438	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.432000	0.80349	2.778000	0.95560	0.655000	0.94253	GAG	DENND2A	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom		0.597	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	C	NM_015689		140266969	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140266969	C	T	140266969	3	4	176	1	0	0	0	0	1	0	0	0	4439	893	31	1	1381	1	DENND2A	7	140266969	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	18614411	140266969	18871694	114	33232										
TAS2R60	338398	genome.wustl.edu	37	chr7	143141297	143141297	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggctctgctggctctcctctCttttgccatgctcttcatct	7	15	6	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:143141297C>G	ENST00000332690.1	+	1	752	c.752C>G	c.(751-753)tCt>tGt	p.S251C	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	251					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCTCTCCTCTCTTTTGCCATG	0.498																																																	0													154	157	156					7																	143141297		2203	4300	6503	SO:0001583	missense	338398			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.752C>G	7.37:g.143141297C>G	ENSP00000327724:p.Ser251Cys		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S251C	ENST00000332690.1	37	c.752	CCDS5885.1	7	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628715	0.28978	.	.	ENSG00000185899	ENST00000332690	T	0.37915	1.17	5.31	3.51	0.40186	.	0.000000	0.64402	U	0.000001	T	0.52008	0.1708	M	0.63843	1.955	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.40590	-0.9555	10	0.72032	D	0.01	.	7.8017	0.29178	0.0:0.8094:0.0:0.1906	.	251	P59551	T2R60_HUMAN	C	251	ENSP00000327724:S251C	ENSP00000327724:S251C	S	+	2	0	TAS2R60	142851419	0.022000	0.18835	0.001000	0.08648	0.289000	0.27227	1.938000	0.40203	0.615000	0.30124	0.491000	0.48974	TCT	TAS2R60	-	pfam_TAS2_rcpt		0.498	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R60	HGNC	protein_coding	OTTHUMT00000337541.1	C			143141297	1	no_errors	ENST00000332690	ensembl	human	known	70_37	missense	SNP	0.014	G	G	143141297	C	G	143141297	3	3	176	1	0	0	0	0	1	0	0	0	15615	913	32	1	754	1	TAS2R60	7	143141297	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2874328	143141297	15997366	115	33233										
ACCN3	9311	genome.wustl.edu	37	chr7	150749645	150749645	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cccgttcccaccccagcactCtgctctgttccgaagacctc	6	20	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:150749645C>G	ENST00000349064.5	+	11	1715				ASIC3_ENST00000357922.4_Intron|ASIC3_ENST00000297512.8_Missense_Mutation_p.L508V	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3						cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCCCAGCACTCTGCTCTGTTC	0.627																																																	0													169	124	139					7																	150749645		2203	4300	6503	SO:0001627	intron_variant	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1518-16C>G	7.37:g.150749645C>G			B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.L508V	ENST00000349064.5	37	c.1522	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164776	0.06502	.	.	ENSG00000213199	ENST00000297512	T	0.64991	-0.13	4.71	-0.731	0.11151	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20107	-1.0285	8	0.11794	T	0.64	0.3103	5.2175	0.15350	0.0954:0.5419:0.237:0.1257	.	508	Q9UHC3-3	.	V	508	ENSP00000297512:L508V	ENSP00000297512:L508V	L	+	1	2	ACCN3	150380578	0.009000	0.17119	0.008000	0.14137	0.006000	0.05464	0.052000	0.14163	-0.006000	0.14370	-1.415000	0.01116	CTG	ASIC3	-	NULL		0.627	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	C	NM_004769		150749645	1	no_errors	ENST00000297512	ensembl	human	known	70_37	missense	SNP	0.000	G	G	150749645	C	G	150749645	1	3	176	0	1	0	0	0	0	0	0	0	130	912	32	1		1	ACCN3	7	150749645	Intron	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	7608348	150749645	8389018	116	33234										
RP1L1	94137	genome.wustl.edu	37	chr8	10466721	10466721	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcgtcctccagggtgaaggaGaggggccccaggcccagggt	17	12	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:10466721G>C	ENST00000382483.3	-	4	5110	c.4887C>G	c.(4885-4887)ctC>ctG	p.L1629L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1709					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGTGAAGGAGAGGGGCCCCA	0.716																																																	0													17	21	20					8																	10466721		1963	4126	6089	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4887C>G	8.37:g.10466721G>C			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L1629	ENST00000382483.3	37	c.4887	CCDS43708.1	8																																																																																			RP1L1	-	NULL		0.716	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	G			10466721	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	silent	SNP	0.000	C	C	10466721	G	C	10466721	2	2	176	1	0	0	0	0	0	0	0	1	13563	929	33	1		1	RP1L1	8	10466721	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		10466721	135897301	117	33235										
INTS10	55174	genome.wustl.edu	37	chr8	19681401	19681401	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	caggcgcccaggatacatctGatttaatgtcacctagcaaa	8	11	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:19681401G>C	ENST00000397977.3	+	7	1080	c.682G>C	c.(682-684)Gat>Cat	p.D228H		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	228					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GGATACATCTGATTTAATGTC	0.418																																																	0													103	94	97					8																	19681401		1844	4095	5939	SO:0001583	missense	55174			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.682G>C	8.37:g.19681401G>C	ENSP00000381064:p.Asp228His		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.D228H	ENST00000397977.3	37	c.682	CCDS6011.2	8	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878704	0.72294	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.6	5.6	0.85130	.	0.296480	0.37261	N	0.002172	T	0.46190	0.1380	N	0.22421	0.69	0.54753	D	0.999985	P	0.49447	0.924	P	0.44772	0.46	T	0.45411	-0.9263	9	0.46703	T	0.11	-29.431	18.1822	0.89782	0.0:0.0:1.0:0.0	.	228	Q9NVR2	INT10_HUMAN	H	228	.	ENSP00000381064:D228H	D	+	1	0	INTS10	19725681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.071000	0.57556	2.645000	0.89757	0.655000	0.94253	GAT	INTS10	-	NULL		0.418	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	G	NM_018142		19681401	1	no_errors	ENST00000397977	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19681401	G	C	19681401	3	2	176	1	0	0	0	0	1	0	0	0	7796	1290	45	1	708	1	INTS10	8	19681401	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	9214680	19681401	126682621	118	33236										
C8orf58	541565	genome.wustl.edu	37	chr8	22458791	22458791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gctggcaagcaagcctgagcGtgaagtgccccttggagcag	15	11	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:22458791G>A	ENST00000289989.5	+	2	511	c.437G>A	c.(436-438)cGt>cAt	p.R146H	C8orf58_ENST00000409586.3_Missense_Mutation_p.R146H			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	146										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AAGCCTGAGCGTGAAGTGCCC	0.637																																																	0													21	21	21					8																	22458791		2192	4290	6482	SO:0001583	missense	541565			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.437G>A	8.37:g.22458791G>A	ENSP00000289989:p.Arg146His		B4DI44	Missense_Mutation	SNP	NULL	p.R146H	ENST00000289989.5	37	c.437	CCDS34862.1	8	.	.	.	.	.	.	.	.	.	.	g	6.090	0.384833	0.11524	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	3.81	-3.43	0.04810	.	1.509220	0.04194	N	0.328796	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B;B;B	0.33171	0.4;0.4;0.4	B;B;B	0.32289	0.069;0.143;0.092	T	0.08411	-1.0723	9	0.12103	T	0.63	10.7437	1.1217	0.01726	0.3897:0.1482:0.3115:0.1507	.	146;74;146	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	H	215;146;146;74	.	ENSP00000399696:R215H	R	+	2	0	AC037459.4;C8orf58	22514736	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.290000	0.08354	-0.516000	0.06470	-0.533000	0.04299	CGT	C8orf58	-	NULL		0.637	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf58	HGNC	protein_coding	OTTHUMT00000334183.1	G	NM_001013842		22458791	1	no_errors	ENST00000289989	ensembl	human	known	70_37	missense	SNP	0.000	A	A	22458791	G	A	22458791	3	1	176	1	0	0	0	0	1	0	0	0	2438	1145	40	2	443	2	C8orf58	8	22458791	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2777390	22458791	123905231	119	33237										
UNC5D	137970	genome.wustl.edu	37	chr8	35542126	35542126	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gaggctggtcttcctggacaGagtggtcagcctgcaatgtt	14	9	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:35542126G>C	ENST00000404895.2	+	6	1106	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Missense_Mutation_p.E260Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.E255Q|UNC5D_ENST00000420357.1_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	260	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCCTGGACAGAGTGGTCAGC	0.527																																																	0													122	114	117					8																	35542126		2203	4300	6503	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.778G>C	8.37:g.35542126G>C	ENSP00000385143:p.Glu260Gln		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.E260Q	ENST00000404895.2	37	c.778	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810832	0.70797	.	.	ENSG00000156687	ENST00000404895;ENST00000416672;ENST00000453357	T;T;T	0.58358	0.34;0.34;0.34	5.06	5.06	0.68205	.	0.145951	0.64402	D	0.000010	T	0.52370	0.1730	L	0.56124	1.755	0.80722	D	1	B;P;P	0.39480	0.408;0.675;0.549	B;B;B	0.39258	0.184;0.295;0.255	T	0.54384	-0.8302	10	0.40728	T	0.16	-20.8352	18.8209	0.92097	0.0:0.0:1.0:0.0	.	260;255;260	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	Q	260;260;255	ENSP00000385143:E260Q;ENSP00000412652:E260Q;ENSP00000394303:E255Q	ENSP00000385143:E260Q	E	+	1	0	UNC5D	35661668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.520000	0.84964	0.655000	0.94253	GAG	UNC5D	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.527	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	G			35542126	1	no_errors	ENST00000404895	ensembl	human	known	70_37	missense	SNP	1.000	C	C	35542126	G	C	35542126	3	2	176	1	0	0	0	0	1	0	0	0	17026	943	33	1	800	1	UNC5D	8	35542126	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	13083335	35542126	110821896	120	33238										
GPR124	25960	genome.wustl.edu	37	chr8	37686464	37686464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcgccttcctgggcctggggGagctgaagcgtttgtgagtg	18	9	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:37686464G>A	ENST00000412232.2	+	3	410	c.397G>A	c.(397-399)Gag>Aag	p.E133K	GPR124_ENST00000315215.7_Missense_Mutation_p.E133K	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	133					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGCCTGGGGGAGCTGAAGCG	0.662																																																	0													60	57	58					8																	37686464		2203	4300	6503	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.397G>A	8.37:g.37686464G>A	ENSP00000406367:p.Glu133Lys		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.E133K	ENST00000412232.2	37	c.397	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658806	0.67586	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	T;T;T	0.55052	0.54;0.54;0.54	5.85	5.85	0.93711	.	0.180123	0.47093	D	0.000253	T	0.37046	0.0989	N	0.12920	0.275	0.58432	D	0.999999	B;B	0.31153	0.216;0.31	B;B	0.33846	0.171;0.091	T	0.20505	-1.0273	10	0.07030	T	0.85	-27.7536	18.3581	0.90365	0.0:0.0:1.0:0.0	.	133;133	Q96PE1-2;Q96PE1	.;GP124_HUMAN	K	91;126;133;133	ENSP00000400860:E91K;ENSP00000323508:E133K;ENSP00000406367:E133K	ENSP00000323508:E133K	E	+	1	0	GPR124	37805622	1.000000	0.71417	0.999000	0.59377	0.563000	0.35712	8.275000	0.89892	2.771000	0.95319	0.561000	0.74099	GAG	GPR124	-	smart_Leu-rich_rpt_typical-subtyp		0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	G			37686464	1	no_errors	ENST00000412232	ensembl	human	known	70_37	missense	SNP	0.982	A	A	37686464	G	A	37686464	3	1	176	1	0	0	0	0	1	0	0	0	6657	1175	41	1	386	1	GPR124	8	37686464	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2144338	37686464	108677558	121	33239										
SLC20A2	6575	genome.wustl.edu	37	chr8	42296980	42296980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	catcttaccgtatgcagcccGagggtggctgcccgcagaag	13	13	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:42296980G>A	ENST00000342228.3	-	7	1291	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	SLC20A2_ENST00000520262.1_Missense_Mutation_p.R308W|SLC20A2_ENST00000520179.1_Missense_Mutation_p.R308W	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	308					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TATGCAGCCCGAGGGTGGCTG	0.627																																																	0													66	63	64					8																	42296980		2203	4300	6503	SO:0001583	missense	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.922C>T	8.37:g.42296980G>A	ENSP00000340465:p.Arg308Trp			Missense_Mutation	SNP	pfam_Phos_transporter	p.R308W	ENST00000342228.3	37	c.922	CCDS6132.1	8	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230936	0.58777	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90676	-2.71;-2.71;-2.71	6.06	5.18	0.71444	.	0.108208	0.64402	D	0.000018	D	0.92567	0.7639	L	0.61218	1.895	0.58432	D	0.999999	D	0.63046	0.992	P	0.58970	0.849	D	0.92618	0.6105	10	0.66056	D	0.02	-28.4102	10.2637	0.43443	0.0:0.1473:0.6997:0.153	.	308	Q08357	S20A2_HUMAN	W	308	ENSP00000340465:R308W;ENSP00000429754:R308W;ENSP00000429712:R308W	ENSP00000340465:R308W	R	-	1	2	SLC20A2	42416137	0.996000	0.38824	0.976000	0.42696	0.137000	0.21094	2.840000	0.48215	1.563000	0.49615	0.650000	0.86243	CGG	SLC20A2	-	pfam_Phos_transporter		0.627	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	G			42296980	-1	no_errors	ENST00000342228	ensembl	human	known	70_37	missense	SNP	0.947	A	A	42296980	G	A	42296980	3	1	176	1	0	0	0	0	1	0	0	0	14469	1057	37	1	1056	1	SLC20A2	8	42296980	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	4610516	42296980	104067042	122	33240										
CHRNA6	8973	genome.wustl.edu	37	chr8	42611231	42611231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cctcctggcaaggcctctggGcactgcatcagagcctgtgc	12	15	2	1	rs148005281	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:42611231G>T	ENST00000276410.2	-	5	1466	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T	CHRNA6_ENST00000534622.1_Missense_Mutation_p.P356T|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	371					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	AGGCCTCTGGGCACTGCATCA	0.557																																																	0													66	62	63					8																	42611231		2203	4300	6503	SO:0001583	missense	8973			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1111C>A	8.37:g.42611231G>T	ENSP00000276410:p.Pro371Thr		B2R8V4|B4DQH1	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P371T	ENST00000276410.2	37	c.1111	CCDS6135.1	8	.	.	.	.	.	.	.	.	.	.	G	0.611	-0.824854	0.02755	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	D;D	0.84944	-1.92;-1.92	6.07	1.7	0.24286	Neurotransmitter-gated ion-channel transmembrane domain (2);	5.584930	0.00926	N	0.002653	T	0.79299	0.4422	L	0.45228	1.405	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.25987	0.065;0.065	T	0.56613	-0.7950	10	0.11485	T	0.65	.	3.504	0.07684	0.4712:0.0:0.348:0.1807	.	356;371	B4DQH1;Q15825	.;ACHA6_HUMAN	T	371;356	ENSP00000276410:P371T;ENSP00000433871:P356T	ENSP00000276410:P371T	P	-	1	0	CHRNA6	42730388	0.001000	0.12720	0.045000	0.18777	0.006000	0.05464	0.627000	0.24506	0.420000	0.25954	0.655000	0.94253	CCC	CHRNA6	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.557	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1	G			42611231	-1	no_errors	ENST00000276410	ensembl	human	known	70_37	missense	SNP	0.000	T	T	42611231	G	T	42611231	3	4	176	1	0	0	0	0	1	0	0	0	3392	1203	42	4	381	4	CHRNA6	8	42611231	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	314251	42611231	103752791	123	33241										
CHD7	55636	genome.wustl.edu	37	chr8	61693914	61693914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acccaagaccccgaaagcccCtaagattcccaaagagccaa	6	16	0	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:61693914C>T	ENST00000423902.2	+	3	2500	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	CHD7_ENST00000525508.1_Missense_Mutation_p.P674L|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	674	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCGAAAGCCCCTAAGATTCCC	0.443																																																	1	Insertion - In frame(1)	lung(1)											34	38	37					8																	61693914		1803	4063	5866	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2021C>T	8.37:g.61693914C>T	ENSP00000392028:p.Pro674Leu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P674L	ENST00000423902.2	37	c.2021	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002972	0.93287	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.81739	-1.53;-1.17	5.36	5.36	0.76844	.	0.000000	0.45867	D	0.000337	D	0.85296	0.5664	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81784	-0.0774	10	0.24483	T	0.36	-12.3999	19.4501	0.94863	0.0:1.0:0.0:0.0	.	674	Q9P2D1	CHD7_HUMAN	L	674	ENSP00000392028:P674L;ENSP00000436027:P674L	ENSP00000307304:P674L	P	+	2	0	CHD7	61856468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.768000	0.74980	2.678000	0.91216	0.563000	0.77884	CCT	CHD7	-	NULL		0.443	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	C	XM_098762		61693914	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61693914	C	T	61693914	3	4	176	1	0	0	0	0	1	0	0	0	3335	681	24	4	2027	4	CHD7	8	61693914	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	19082683	61693914	84670108	124	33242										
ASPH	444	genome.wustl.edu	37	chr8	62416034	62416034	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tacctcgtgctcaaaggagtCatcaaagatgagcaccttgc	9	11	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:62416034C>T	ENST00000379454.4	-	25	2348	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	ASPH_ENST00000541428.1_Missense_Mutation_p.D692N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	721					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCAAAGGAGTCATCAAAGATG	0.502																																																	0													126	93	104					8																	62416034		2203	4300	6503	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2161G>A	8.37:g.62416034C>T	ENSP00000368767:p.Asp721Asn		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D721N	ENST00000379454.4	37	c.2161	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.761136	0.96906	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.45276	0.9;0.9	5.71	5.71	0.89125	.	0.048627	0.85682	D	0.000000	T	0.74786	0.3762	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80084	-0.1530	10	0.87932	D	0	-34.4751	20.2245	0.98337	0.0:1.0:0.0:0.0	.	692;721	F5H667;Q12797	.;ASPH_HUMAN	N	692;721	ENSP00000437864:D692N;ENSP00000368767:D721N	ENSP00000368767:D721N	D	-	1	0	ASPH	62578588	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	7.294000	0.78760	2.861000	0.98227	0.650000	0.86243	GAC	ASPH	-	pfam_Asp_Arg_b-Hydrxlase		0.502	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	C	NM_004318		62416034	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62416034	C	T	62416034	3	4	176	1	0	0	0	0	1	0	0	0	1054	826	29	1	119	1	ASPH	8	62416034	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	722120	62416034	83947988	125	33243										
AZIN1	51582	genome.wustl.edu	37	chr8	103848607	103848607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tattatcttctgttgcaataTgtagtaagaccctaagagaa	7	6	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:103848607T>C	ENST00000337198.5	-	6	1624	c.461A>G	c.(460-462)cAt>cGt	p.H154R	AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Missense_Mutation_p.H154R	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	154					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TGTTGCAATATGTAGTAAGAC	0.423																																																	0													156	144	148					8																	103848607		2203	4300	6503	SO:0001583	missense	51582			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"ornithine decarboxylase 1-like"	607909	"ornithine decarboxylase antizyme inhibitor"	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.461A>G	8.37:g.103848607T>C	ENSP00000337180:p.His154Arg		A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.H154R	ENST00000337198.5	37	c.461	CCDS6295.1	8	.	.	.	.	.	.	.	.	.	.	T	7.189	0.591122	0.13812	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.25414	1.8;1.8	6.08	6.08	0.98989	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.048319	0.85682	D	0.000000	T	0.07503	0.0189	N	0.00422	-1.515	0.58432	D	0.999994	B	0.09022	0.002	B	0.12156	0.007	T	0.34477	-0.9827	10	0.02654	T	1	-13.2373	16.6512	0.85203	0.0:0.0:0.0:1.0	.	154	O14977	AZIN1_HUMAN	R	154	ENSP00000337180:H154R;ENSP00000321507:H154R	ENSP00000337180:H154R	H	-	2	0	AZIN1	103917783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.043000	0.64208	2.333000	0.79357	0.482000	0.46254	CAT	AZIN1	-	pfam_De-COase2_N,prints_Orn_de-COase		0.423	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZIN1	HGNC	protein_coding	OTTHUMT00000380133.1	T			103848607	-1	no_errors	ENST00000337198	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103848607	T	C	103848607	3	2	176	1	0	0	0	0	1	0	0	0	1243	1464	51	5	913	5	AZIN1	8	103848607	Missense_Mutation	SNP	T	TCGA-MY-A5BD-01A-11D-A26G-09	41432573	103848607	42515415	126	33244										
ZFPM2	23414	genome.wustl.edu	37	chr8	106815372	106815372	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcctaaaggccaggcttcctCaaatgggtgtgctgcgctga	12	11	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:106815372C>T	ENST00000407775.2	+	8	3312	c.3062C>T	c.(3061-3063)tCa>tTa	p.S1021L	ZFPM2_ENST00000517361.1_Missense_Mutation_p.S889L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S752L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S889L|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1021					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGGCTTCCTCAAATGGGTGT	0.428																																																	0													65	62	63					8																	106815372		1935	4134	6069	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3062C>T	8.37:g.106815372C>T	ENSP00000384179:p.Ser1021Leu		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1021L	ENST00000407775.2	37	c.3062	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145277	0.37825	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.21932	1.98;2.47;2.47;3.67	5.96	5.96	0.96718	.	0.173282	0.51477	D	0.000087	T	0.15305	0.0369	N	0.24115	0.695	0.58432	D	0.999999	P	0.39782	0.688	B	0.28849	0.095	T	0.02797	-1.1109	10	0.37606	T	0.19	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1021	Q8WW38	FOG2_HUMAN	L	1021;889;889;752	ENSP00000384179:S1021L;ENSP00000430757:S889L;ENSP00000428720:S889L;ENSP00000367733:S752L	ENSP00000367733:S752L	S	+	2	0	ZFPM2	106884548	1.000000	0.71417	0.809000	0.32408	0.911000	0.54048	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	TCA	ZFPM2	-	NULL		0.428	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	C			106815372	1	no_errors	ENST00000407775	ensembl	human	known	70_37	missense	SNP	0.998	T	T	106815372	C	T	106815372	3	4	176	1	0	0	0	0	1	0	0	0	17688	838	29	1	3092	1	ZFPM2	8	106815372	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2966765	106815372	39548650	127	33245										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110463247	110463247	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gaagtgagtgtggttaatggGaaagatttgtcacagtccat	13	4	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:110463247G>A	ENST00000378402.5	+	41	6323	c.6219G>A	c.(6217-6219)ggG>ggA	p.G2073G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2073	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGTTAATGGGAAAGATTTGT	0.507										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112	122	118					8																	110463247		2117	4233	6350	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6219G>A	8.37:g.110463247G>A		1427	Q567P2|Q9UF27	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G2073	ENST00000378402.5	37	c.6219	CCDS47911.1	8																																																																																			PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.507	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110463247	1	no_errors	ENST00000378402	ensembl	human	known	70_37	silent	SNP	0.979	A	A	110463247	G	A	110463247	2	1	176	1	0	0	0	0	0	0	0	1	11996	1161	41	1		1	PKHD1L1	8	110463247	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	3647875	110463247	35900775	128	33246										
TRPS1	7227	genome.wustl.edu	37	chr8	116616305	116616305	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aggggtggtgaatgaacactGatggcactgatgtttgactc	14	6	0	5			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:116616305G>A	ENST00000220888.5	-	3	2011	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.Q622*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.Q631*|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.Q618*			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	618					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AATGAACACTGATGGCACTGA	0.478									Langer-Giedion syndrome																																								0													78	77	77					8																	116616305		2052	4198	6250	SO:0001587	stop_gained	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1852C>T	8.37:g.116616305G>A	ENSP00000220888:p.Gln618*		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.Q631*	ENST00000220888.5	37	c.1891		8	.	.	.	.	.	.	.	.	.	.	G	39	7.905295	0.98554	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	631;618;622;618	.	ENSP00000220888:Q618X	Q	-	1	0	TRPS1	116685480	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.386000	0.97228	2.941000	0.99782	0.655000	0.94253	CAG	TRPS1	-	smart_Znf_C2H2-like		0.478	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	G	NM_014112		116616305	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	116616305	G	A	116616305	4	1	176	1	0	0	0	0	0	1	0	0	16624	1299	45	1	2009	1	TRPS1	8	116616305	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	6153058	116616305	29747717	129	33247										
TRPS1	7227	genome.wustl.edu	37	chr8	116616497	116616498	+	Missense_Mutation	DNP	GG	GG	AA													0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggtacacttgtgaatgttatGgagctgttgataatgacgga							TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:116616497_116616498GG>AA	ENST00000220888.5	-	3	1818_1819	c.1659_1660CC>TT	c.(1657-1662)ctCCat>ctTTat	p.H554Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.H558Y|TRPS1_ENST00000395715.3_Missense_Mutation_p.H567Y|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.H554Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	554					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGAATGTTATGGAGCTGTTGAT	0.436									Langer-Giedion syndrome																																								0																																										SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1659_1660delinsAA	8.37:g.116616497_116616498delinsAA	ENSP00000220888:p.His554Tyr		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation|Silent	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.H567Y|p.L566	ENST00000220888.5	37	c.1699|c.1698		8																																																																																			TRPS1	-	smart_Znf_C2H2-like		0.436	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	G	NM_014112		116616497|116616498	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	missense|silent	SNP	1.000	A	AA	116616498	GG	AA	116616497	3	1	176	1	0	0	0	0	1	0	0	0	16624	1348	47	4	2201	4	TRPS1	8	116616497	Missense_Mutation	DNP	GG	TCGA-MY-A5BD-01A-11D-A26G-09	192	116616497	29747525	130	33248										
KLHL38	340359	genome.wustl.edu	37	chr8	124664926	124664926	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctggtccagggttggggggtCaatgcctttcagctgcactt	14	10	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:124664926C>T	ENST00000325995.7	-	1	264	c.241G>A	c.(241-243)Gac>Aac	p.D81N	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	81	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTTGGGGGGTCAATGCCTTTC	0.592																																																	0													76	85	82					8																	124664926		2073	4198	6271	SO:0001583	missense	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.241G>A	8.37:g.124664926C>T	ENSP00000321475:p.Asp81Asn		A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D81N	ENST00000325995.7	37	c.241	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.117738	0.01785	.	.	ENSG00000175946	ENST00000325995	T	0.71461	-0.57	5.5	0.527	0.17084	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.735508	0.14037	N	0.345715	T	0.62036	0.2395	L	0.53249	1.67	0.09310	N	1	B	0.15719	0.014	B	0.18263	0.021	T	0.51340	-0.8718	10	0.30078	T	0.28	.	9.9093	0.41394	0.0:0.655:0.0:0.345	.	81	Q2WGJ6	KLH38_HUMAN	N	81	ENSP00000321475:D81N	ENSP00000321475:D81N	D	-	1	0	KLHL38	124734107	0.000000	0.05858	0.003000	0.11579	0.096000	0.18686	-0.086000	0.11233	0.285000	0.22329	-0.258000	0.10820	GAC	KLHL38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.592	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	C			124664926	-1	no_errors	ENST00000325995	ensembl	human	known	70_37	missense	SNP	0.000	T	T	124664926	C	T	124664926	3	4	176	1	0	0	0	0	1	0	0	0	8410	826	29	1	1516	1	KLHL38	8	124664926	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	8048429	124664926	21699096	131	33249										
GSDMC	56169	genome.wustl.edu	37	chr8	130760789	130760789	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agcaacgagagagtcccataGagggcagacaggggcatctt	14	9	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:130760789G>C	ENST00000276708.4	-	14	2366	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	495						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAGTCCCATAGAGGGCAGACA	0.592																																																	0													128	119	122					8																	130760789		2203	4300	6503	SO:0001819	synonymous_variant	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1485C>G	8.37:g.130760789G>C			Q5XKF3|Q6P494	Silent	SNP	pfam_Gasdermin	p.L495	ENST00000276708.4	37	c.1485	CCDS6360.1	8																																																																																			GSDMC	-	NULL		0.592	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	G			130760789	-1	no_errors	ENST00000276708	ensembl	human	known	70_37	silent	SNP	0.504	C	C	130760789	G	C	130760789	2	2	176	1	0	0	0	0	0	0	0	1	6838	929	33	1		1	GSDMC	8	130760789	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	6095863	130760789	15603233	132	33250										
ADCY8	114	genome.wustl.edu	37	chr8	132051626	132051626	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	caggcaggagttacctggttGatggaaatgaccgccagccg	14	10	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:132051626G>A	ENST00000286355.5	-	1	3046	c.954C>T	c.(952-954)atC>atT	p.I318I	ADCY8_ENST00000377928.3_Silent_p.I318I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	318					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTACCTGGTTGATGGAAATGA	0.587										HNSCC(32;0.087)																																							0													46	57	53					8																	132051626		2202	4300	6502	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.954C>T	8.37:g.132051626G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I318	ENST00000286355.5	37	c.954	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.587	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			132051626	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	A	A	132051626	G	A	132051626	2	1	176	1	0	0	0	0	0	0	0	1	300	1280	45	1		1	ADCY8	8	132051626	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1290837	132051626	14312396	133	33251										
SPATC1	375686	genome.wustl.edu	37	chr8	145101575	145101575	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctggatgagaagctgtgccaGaggctcacacagcgctatgt	13	10	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:145101575G>C	ENST00000377470.3	+	5	1596	c.1494G>C	c.(1492-1494)caG>caC	p.Q498H	CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA|SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	498						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTGTGCCAGAGGCTCACAC	0.622																																																	0													60	53	55					8																	145101575		2203	4299	6502	SO:0001583	missense	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1494G>C	8.37:g.145101575G>C	ENSP00000366690:p.Gln498His		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	NULL	p.Q498H	ENST00000377470.3	37	c.1494	CCDS6413.2	8	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285439	0.59867	.	.	ENSG00000186583	ENST00000377470	T	0.47528	0.84	5.07	5.07	0.68467	.	0.181464	0.40302	N	0.001130	T	0.67571	0.2907	M	0.74258	2.255	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.71140	-0.4679	10	0.66056	D	0.02	-25.3017	13.9492	0.64106	0.0:0.0:1.0:0.0	.	498	Q76KD6	SPERI_HUMAN	H	498	ENSP00000366690:Q498H	ENSP00000366690:Q498H	Q	+	3	2	SPATC1	145173563	1.000000	0.71417	0.996000	0.52242	0.523000	0.34469	2.776000	0.47709	2.359000	0.80004	0.655000	0.94253	CAG	SPATC1	-	NULL		0.622	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1	G	NM_198572		145101575	1	no_errors	ENST00000377470	ensembl	human	known	70_37	missense	SNP	0.980	C	C	145101575	G	C	145101575	3	2	176	1	0	0	0	0	1	0	0	0	15047	933	33	1	1512	1	SPATC1	8	145101575	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	13049949	145101575	1262447	134	33252										
IL33	90865	genome.wustl.edu	37	chr9	6250569	6250569	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aggcctgttactttaggagaGaaaccaccaaaaggccttca	9	10	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:6250569G>C	ENST00000381434.3	+	2	200	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.E63Q	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	63	Homeodomain-like HTH domain.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CTTTAGGAGAGAAACCACCAA	0.423																																																	0													93	89	91					9																	6250569		2203	4300	6503	SO:0001583	missense	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.187G>C	9.37:g.6250569G>C	ENSP00000370842:p.Glu63Gln		B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	NULL	p.E63Q	ENST00000381434.3	37	c.187	CCDS6468.1	9	.	.	.	.	.	.	.	.	.	.	G	15.43	2.829903	0.50845	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	T;T	0.58940	0.3;0.3	4.41	-3.35	0.04928	.	0.870778	0.10049	N	0.722471	T	0.55832	0.1945	M	0.62723	1.935	0.09310	N	1	D;P	0.54047	0.964;0.904	P;P	0.50109	0.631;0.55	T	0.52624	-0.8551	10	0.62326	D	0.03	-1.6243	5.4228	0.16409	0.5184:0.0:0.3411:0.1405	.	63;63	B4E1Q9;O95760	.;IL33_HUMAN	Q	63	ENSP00000414238:E63Q;ENSP00000370842:E63Q	ENSP00000370842:E63Q	E	+	1	0	IL33	6240569	0.004000	0.15560	0.000000	0.03702	0.253000	0.25986	0.072000	0.14617	-0.698000	0.05085	-0.339000	0.08088	GAA	IL33	-	NULL		0.423	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL33	HGNC	protein_coding	OTTHUMT00000051655.1	G	NM_033439		6250569	1	no_errors	ENST00000381434	ensembl	human	known	70_37	missense	SNP	0.001	C	C	6250569	G	C	6250569	3	2	176	1	0	0	0	0	1	0	0	0	7713	943	33	1	193	1	IL33	9	6250569	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		6250569	134962862	135	33253										
CD72	971	genome.wustl.edu	37	chr9	35616190	35616190	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctctgtcccagctgcgttatCttgaggcggagctgctgcct	12	13	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:35616190C>T	ENST00000396757.1	-	6	602	c.438G>A	c.(436-438)aaG>aaA	p.K146K	CD72_ENST00000378431.1_3'UTR|CD72_ENST00000259633.4_Silent_p.K146K|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	146					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGCGTTATCTTGAGGCGGA	0.582																																																	0													59	56	57					9																	35616190		2203	4300	6503	SO:0001819	synonymous_variant	971				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"CD molecules"	1696	protein-coding gene	gene with protein product		107272	"CD72 antigen"			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.438G>A	9.37:g.35616190C>T				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.K146	ENST00000396757.1	37	c.438	CCDS6581.1	9																																																																																			CD72	-	NULL		0.582	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	C	NM_001782		35616190	-1	no_errors	ENST00000259633	ensembl	human	known	70_37	silent	SNP	0.000	T	T	35616190	C	T	35616190	2	4	176	1	0	0	0	0	0	0	0	1	3039	912	32	1		1	CD72	9	35616190	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	29365621	35616190	105597241	136	33254										
TLN1	7094	genome.wustl.edu	37	chr9	35707158	35707158	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctcggggggtcccggggattGactgcgagggcccgggctgt	20	11	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:35707158G>A	ENST00000314888.9	-	37	5219	c.4866C>T	c.(4864-4866)gtC>gtT	p.V1622V	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Silent_p.V1622V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1622	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCGGGGATTGACTGCGAGGG	0.607																																																	0													53	62	59					9																	35707158		2203	4300	6503	SO:0001819	synonymous_variant	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4866C>T	9.37:g.35707158G>A			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.V1622	ENST00000314888.9	37	c.4866	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin		0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	G	NM_006289		35707158	-1	no_errors	ENST00000314888	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35707158	G	A	35707158	2	1	176	1	0	0	0	0	0	0	0	1	15977	1277	45	1		1	TLN1	9	35707158	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	90968	35707158	105506273	137	33255										
FRMD3	257019	genome.wustl.edu	37	chr9	85862838	85862838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cgtgagagattaacttcatgAgcaacccagcatgtagagga	11	8	1	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:85862838A>G	ENST00000304195.3	-	14	1995	c.1789T>C	c.(1789-1791)Tca>Cca	p.S597P	FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000376434.1_Intron|FRMD3_ENST00000465485.1_5'Flank|FRMD3_ENST00000328788.1_Intron	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	597						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TAACTTCATGAGCAACCCAGC	0.473																																																	0													198	199	198					9																	85862838		1929	4132	6061	SO:0001583	missense	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1789T>C	9.37:g.85862838A>G	ENSP00000303508:p.Ser597Pro		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.S597P	ENST00000304195.3	37	c.1789	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	A	12.29	1.892860	0.33442	.	.	ENSG00000172159	ENST00000304195	D	0.84223	-1.82	5.52	5.52	0.82312	.	0.345157	0.27754	N	0.017992	T	0.70430	0.3223	N	0.08118	0	0.29920	N	0.822816	P	0.44578	0.838	B	0.38562	0.276	T	0.73316	-0.4021	10	0.72032	D	0.01	.	10.8348	0.46681	0.8592:0.0:0.0:0.1408	.	597	A2A2Y4	FRMD3_HUMAN	P	597	ENSP00000303508:S597P	ENSP00000303508:S597P	S	-	1	0	FRMD3	85052658	1.000000	0.71417	0.995000	0.50966	0.846000	0.48090	6.021000	0.70832	2.100000	0.63781	0.533000	0.62120	TCA	FRMD3	-	NULL		0.473	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	A	NM_174938		85862838	-1	no_errors	ENST00000304195	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85862838	A	G	85862838	3	3	176	1	0	0	0	0	1	0	0	0	6068	304	11	5	8	5	FRMD3	9	85862838	Missense_Mutation	SNP	A	TCGA-MY-A5BD-01A-11D-A26G-09	50155680	85862838	55350593	138	33256										
SECISBP2	79048	genome.wustl.edu	37	chr9	91972358	91972358	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acactttgcacacaattattGattatgcctgtgagcagaac	7	9	0	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:91972358G>A	ENST00000375807.3	+	15	2217	c.2146G>A	c.(2146-2148)Gat>Aat	p.D716N	SECISBP2_ENST00000534113.2_Missense_Mutation_p.D648N|SECISBP2_ENST00000339901.4_Missense_Mutation_p.D643N	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	716					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CACAATTATTGATTATGCCTG	0.468																																																	0													300	274	283					9																	91972358		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2146G>A	9.37:g.91972358G>A	ENSP00000364965:p.Asp716Asn		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.D716N	ENST00000375807.3	37	c.2146	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641986	0.67244	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.57752	0.38;0.38;0.38	4.54	3.63	0.41609	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.285499	0.37906	N	0.001882	T	0.52549	0.1741	N	0.21282	0.65	0.18873	N	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.39981	-0.9587	10	0.18276	T	0.48	-7.9542	9.1438	0.36919	0.1672:0.0:0.8328:0.0	.	723;643;716	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	N	716;722;643;648	ENSP00000364965:D716N;ENSP00000364959:D643N;ENSP00000436650:D648N	ENSP00000364959:D643N	D	+	1	0	SECISBP2	91162178	0.415000	0.25416	0.057000	0.19452	0.934000	0.57294	3.348000	0.52209	1.260000	0.44134	0.561000	0.74099	GAT	SECISBP2	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45		0.468	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	G	NM_024077		91972358	1	no_errors	ENST00000375807	ensembl	human	known	70_37	missense	SNP	0.341	A	A	91972358	G	A	91972358	3	1	176	1	0	0	0	0	1	0	0	0	14036	1290	45	1	2204	1	SECISBP2	9	91972358	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	6109520	91972358	49241073	139	33257										
ANP32B	10541	genome.wustl.edu	37	chr9	100760874	100760874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	atagaatctttggaggtctgGacatgttagctgaaaaactt	10	5	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:100760874G>C	ENST00000339399.4	+	3	436	c.241G>C	c.(241-243)Gac>Cac	p.D81H	ANP32B_ENST00000473205.1_3'UTR	NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	81					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				TGGAGGTCTGGACATGTTAGC	0.363																																																	0													116	114	115					9																	100760874		2203	4300	6503	SO:0001583	missense	10541			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"ANP32 acidic nuclear phosphoproteins"	16677	protein-coding gene	gene with protein product	"acidic protein rich in leucines"					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.241G>C	9.37:g.100760874G>C	ENSP00000345848:p.Asp81His		B2R9C7|O00655|P78458|P78459	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.D81H	ENST00000339399.4	37	c.241	CCDS6732.1	9	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285426	0.80803	.	.	ENSG00000136938	ENST00000339399	T	0.55930	0.49	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	M	0.81497	2.545	0.80722	D	1	D	0.63880	0.993	P	0.61940	0.896	T	0.75130	-0.3426	10	0.56958	D	0.05	-15.4993	18.2294	0.89929	0.0:0.0:1.0:0.0	.	81	Q92688	AN32B_HUMAN	H	81	ENSP00000345848:D81H	ENSP00000345848:D81H	D	+	1	0	ANP32B	99800695	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.420000	0.97426	2.777000	0.95525	0.655000	0.94253	GAC	ANP32B	-	NULL		0.363	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32B	HGNC	protein_coding	OTTHUMT00000053346.4	G	NM_006401		100760874	1	no_errors	ENST00000339399	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100760874	G	C	100760874	3	2	176	1	0	0	0	0	1	0	0	0	706	1174	41	1	251	1	ANP32B	9	100760874	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	8788516	100760874	40452557	140	33258										
RNF20	56254	genome.wustl.edu	37	chr9	104312939	104312939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttaaggaaactccagaatatCgctgcatgcagtcacagttc	8	10	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:104312939C>T	ENST00000389120.3	+	10	1234	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	382					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCCAGAATATCGCTGCATGCA	0.507																																																	0													209	201	204					9																	104312939		2203	4300	6503	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1144C>T	9.37:g.104312939C>T	ENSP00000373772:p.Arg382Cys		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.R382C	ENST00000389120.3	37	c.1144	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458583	0.84317	.	.	ENSG00000155827	ENST00000389120	T	0.34275	1.37	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.60454	-0.7260	10	0.66056	D	0.02	-7.5393	19.9164	0.97064	0.0:1.0:0.0:0.0	.	382	Q5VTR2	BRE1A_HUMAN	C	382	ENSP00000373772:R382C	ENSP00000373772:R382C	R	+	1	0	RNF20	103352760	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.454000	0.66651	2.810000	0.96702	0.650000	0.86243	CGC	RNF20	-	superfamily_STAT_TF_coiled-coil		0.507	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	C	NM_019592		104312939	1	no_errors	ENST00000389120	ensembl	human	known	70_37	missense	SNP	1.000	T	T	104312939	C	T	104312939	3	4	176	1	0	0	0	0	1	0	0	0	13503	884	31	1	1178	1	RNF20	9	104312939	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3552065	104312939	36900492	141	33259										
ALAD	210	genome.wustl.edu	37	chr9	116151721	116151721	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctcgtacctgtgctcaccttGtcctttacctcccgcacgat	6	17	1	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:116151721G>C	ENST00000409155.3	-	10	994	c.798C>G	c.(796-798)gaC>gaG	p.D266E	ALAD_ENST00000277315.5_Missense_Mutation_p.D249E|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	266					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TGCTCACCTTGTCCTTTACCT	0.562																																																	0													115	113	114					9																	116151721		2203	4300	6503	SO:0001583	missense	210			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.798C>G	9.37:g.116151721G>C	ENSP00000386284:p.Asp266Glu		A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth	p.D266E	ENST00000409155.3	37	c.798	CCDS6794.2	9	.	.	.	.	.	.	.	.	.	.	G	5.665	0.307312	0.10733	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.86432	-2.12;-2.12	5.56	3.73	0.42828	Aldolase-type TIM barrel (1);	0.547984	0.22801	N	0.055461	T	0.71745	0.3376	N	0.25286	0.73	0.43907	D	0.996546	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.001;0.002	T	0.59810	-0.7384	10	0.07175	T	0.84	-0.0044	4.1595	0.10277	0.2464:0.182:0.5716:0.0	.	266;249;295	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	E	266;249	ENSP00000386284:D266E;ENSP00000277315:D249E	ENSP00000277315:D249E	D	-	3	2	ALAD	115191542	1.000000	0.71417	0.993000	0.49108	0.566000	0.35808	3.108000	0.50337	1.345000	0.45676	-0.136000	0.14681	GAC	ALAD	-	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth		0.562	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAD	HGNC	protein_coding	OTTHUMT00000053724.3	G	NM_001003945		116151721	-1	no_errors	ENST00000409155	ensembl	human	known	70_37	missense	SNP	1.000	C	C	116151721	G	C	116151721	3	2	176	1	0	0	0	0	1	0	0	0	483	1368	48	4	206	4	ALAD	9	116151721	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	11838782	116151721	25061710	142	33260										
SPTAN1	6709	genome.wustl.edu	37	chr9	131346737	131346737	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctgcggttgcagcagctcttCcgggatgttgaggatgagga	16	8	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:131346737C>T	ENST00000372731.4	+	17	2480	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	SPTAN1_ENST00000358161.5_Silent_p.F790F|SPTAN1_ENST00000372739.3_Silent_p.F790F	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	790					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCAGCTCTTCCGGGATGTTG	0.557																																					NSCLC(120;833 1744 2558 35612 37579)												0													50	50	50					9																	131346737		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2370C>T	9.37:g.131346737C>T			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.F790	ENST00000372731.4	37	c.2370	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.557	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131346737	1	no_errors	ENST00000358161	ensembl	human	known	70_37	silent	SNP	1.000	T	T	131346737	C	T	131346737	2	4	176	1	0	0	0	0	0	0	0	1	15147	854	30	1		1	SPTAN1	9	131346737	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	15195016	131346737	9866694	143	33261										
SPTAN1	6709	genome.wustl.edu	37	chr9	131348188	131348188	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aggctgaatcctggatgcggGagaaggaacccattgtgggc	16	8	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:131348188G>T	ENST00000372731.4	+	19	2832	c.2722G>T	c.(2722-2724)Gag>Tag	p.E908*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E908*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E908*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	908					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTGGATGCGGGAGAAGGAACC	0.577																																					NSCLC(120;833 1744 2558 35612 37579)												0													103	92	96					9																	131348188		2203	4300	6503	SO:0001587	stop_gained	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2722G>T	9.37:g.131348188G>T	ENSP00000361816:p.Glu908*		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E908*	ENST00000372731.4	37	c.2722	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.385876	0.99155	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1131	0.93326	0.0:0.0:1.0:0.0	.	.	.	.	X	908	.	ENSP00000350882:E908X	E	+	1	0	SPTAN1	130388009	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.420000	0.97426	2.832000	0.97577	0.655000	0.94253	GAG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.577	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131348188	1	no_errors	ENST00000358161	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	131348188	G	T	131348188	4	4	176	1	0	0	0	0	0	1	0	0	15147	1175	41	3	2792	3	SPTAN1	9	131348188	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1451	131348188	9865243	144	33262										
NUP188	23511	genome.wustl.edu	37	chr9	131742975	131742975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcctgcaactgctccgagccCtggtatcagggaagtccaca	10	14	1	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:131742975C>T	ENST00000372577.2	+	14	1381	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	454					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTCCGAGCCCTGGTATCAGG	0.468																																																	0													116	102	107					9																	131742975		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1360C>T	9.37:g.131742975C>T			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.L454	ENST00000372577.2	37	c.1360	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188		0.468	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131742975	1	no_errors	ENST00000372577	ensembl	human	known	70_37	silent	SNP	1.000	T	T	131742975	C	T	131742975	2	4	176	1	0	0	0	0	0	0	0	1	10782	680	24	4		4	NUP188	9	131742975	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	394787	131742975	9470456	145	33263										
GFI1B	8328	genome.wustl.edu	37	chr9	135862686	135862686	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagtgcccagagaccaggctCcaagcaacagccctgtcctt	9	16	0	1	rs377661083		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:135862686C>G	ENST00000339463.3	+	7	937	c.118C>G	c.(118-120)Cca>Gca	p.P40A	GFI1B_ENST00000372122.1_Missense_Mutation_p.P40A|GFI1B_ENST00000534944.1_Missense_Mutation_p.P40A|GFI1B_ENST00000372124.1_Missense_Mutation_p.P40A|GFI1B_ENST00000450530.1_Missense_Mutation_p.P40A|GFI1B_ENST00000372123.1_Missense_Mutation_p.P40A			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	40					cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AGACCAGGCTCCAAGCAACAG	0.587																																																	0													96	72	80					9																	135862686		2203	4300	6503	SO:0001583	missense	8328			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.118C>G	9.37:g.135862686C>G	ENSP00000344782:p.Pro40Ala		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P40A	ENST00000339463.3	37	c.118	CCDS6957.1	9	.	.	.	.	.	.	.	.	.	.	C	1.410	-0.575881	0.03882	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.08458	3.14;3.09;3.09;3.14;3.14;3.09	4.68	3.76	0.43208	.	0.766799	0.11741	N	0.534023	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43327	-0.9398	10	0.16420	T	0.52	-0.4482	10.3494	0.43924	0.1963:0.8037:0.0:0.0	.	40;40	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	A	40	ENSP00000361197:P40A;ENSP00000344782:P40A;ENSP00000409546:P40A;ENSP00000446134:P40A;ENSP00000361196:P40A;ENSP00000361195:P40A	ENSP00000344782:P40A	P	+	1	0	GFI1B	134852507	0.001000	0.12720	0.012000	0.15200	0.002000	0.02628	0.549000	0.23329	1.056000	0.40484	0.655000	0.94253	CCA	GFI1B	-	NULL		0.587	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GFI1B	HGNC	protein_coding	OTTHUMT00000393840.1	C	NM_004188		135862686	1	no_errors	ENST00000339463	ensembl	human	known	70_37	missense	SNP	0.018	G	G	135862686	C	G	135862686	3	3	176	1	0	0	0	0	1	0	0	0	6359	855	30	1	124	1	GFI1B	9	135862686	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	4119711	135862686	5350745	146	33264										
PMPCA	23203	genome.wustl.edu	37	chr9	139309033	139309033	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccatgtatgctgtgtctgctGatagcaaaggcttggacacg	12	9	1	1	rs543713243	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:139309033G>C	ENST00000371717.3	+	5	475	c.466G>C	c.(466-468)Gat>Cat	p.D156H	PMPCA_ENST00000399219.3_Intron|PMPCA_ENST00000371720.1_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	156					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTGTCTGCTGATAGCAAAGG	0.572																																																	0													169	152	158					9																	139309033		2203	4300	6503	SO:0001583	missense	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.466G>C	9.37:g.139309033G>C	ENSP00000360782:p.Asp156His		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.D156H	ENST00000371717.3	37	c.466	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145305	0.57044	.	.	ENSG00000165688	ENST00000371717	T	0.42131	0.98	5.53	5.53	0.82687	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.097405	0.64402	D	0.000001	T	0.39064	0.1064	L	0.47190	1.495	0.80722	D	1	B;B;B	0.26318	0.146;0.097;0.097	B;B;B	0.27715	0.06;0.082;0.082	T	0.17048	-1.0382	10	0.15499	T	0.54	.	18.4525	0.90709	0.0:0.0:1.0:0.0	.	156;156;156	B4DRK5;Q5SXM9;Q10713	.;.;MPPA_HUMAN	H	156	ENSP00000360782:D156H	ENSP00000360782:D156H	D	+	1	0	PMPCA	138428854	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	9.425000	0.97467	2.578000	0.87016	0.650000	0.86243	GAT	PMPCA	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd		0.572	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	G	NM_015160		139309033	1	no_errors	ENST00000371717	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139309033	G	C	139309033	3	2	176	1	0	0	0	0	1	0	0	0	12164	1290	45	1	484	1	PMPCA	9	139309033	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	3446347	139309033	1904398	147	33265										
NET1	10276	genome.wustl.edu	37	chr10	5494406	5494406	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agtcccaacacccgccaagaGaaggagcagtgcactgtggt	12	12	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr10:5494406G>C	ENST00000355029.4	+	5	591	c.449G>C	c.(448-450)aGa>aCa	p.R150T	NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.R96T	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	150					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCCGCCAAGAGAAGGAGCAGT	0.527																																																	0													84	76	79					10																	5494406		2203	4300	6503	SO:0001583	missense	10276			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.449G>C	10.37:g.5494406G>C	ENSP00000347134:p.Arg150Thr		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R150T	ENST00000355029.4	37	c.449	CCDS41483.1	10	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223896	0.58668	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.12672	2.66;2.67	5.53	4.62	0.57501	.	0.000000	0.46145	D	0.000309	T	0.37598	0.1009	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.70935	0.971;0.917	T	0.14839	-1.0458	10	0.56958	D	0.05	-24.8294	13.5466	0.61707	0.0775:0.0:0.9225:0.0	.	96;150	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	150;96	ENSP00000347134:R150T;ENSP00000369717:R96T	ENSP00000347134:R150T	R	+	2	0	NET1	5484406	1.000000	0.71417	0.997000	0.53966	0.401000	0.30781	9.869000	0.99810	2.585000	0.87301	0.650000	0.86243	AGA	NET1	-	NULL		0.527	NET1-005	KNOWN	basic|CCDS	protein_coding	NET1	HGNC	protein_coding	OTTHUMT00000046553.3	G	NM_005863		5494406	1	no_errors	ENST00000355029	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5494406	G	C	5494406	3	2	176	1	0	0	0	0	1	0	0	0	10362	942	33	1	564	1	NET1	10	5494406	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		5494406	130040341	148	33266										
WAPAL	23063	genome.wustl.edu	37	chr10	88213057	88213057	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gttcagcgctgtgcctatgaGaccgtcctgctctcctgttt	10	13	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr10:88213057G>C	ENST00000298767.5	-	14	3341	c.2869C>G	c.(2869-2871)Ctc>Gtc	p.L957V	WAPAL_ENST00000372075.1_Missense_Mutation_p.L224V|WAPAL_ENST00000263070.7_Missense_Mutation_p.L224V	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	957	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTGCCTATGAGACCGTCCTGC	0.433																																																	0													138	130	133					10																	88213057		2203	4300	6503	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2869C>G	10.37:g.88213057G>C	ENSP00000298767:p.Leu957Val		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	pfam_WAPL_prot,superfamily_ARM-type_fold	p.L1042V	ENST00000298767.5	37	c.3124	CCDS7375.1	10	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209124	0.39003	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T	0.50548	0.74	5.91	2.68	0.31781	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.46288	0.1385	L	0.31804	0.96	0.47123	D	0.999327	P;D;P;B	0.63880	0.951;0.993;0.951;0.031	P;P;P;B	0.61874	0.755;0.895;0.755;0.043	T	0.31475	-0.9942	10	0.32370	T	0.25	.	5.8936	0.18927	0.1765:0.2059:0.6176:0.0	.	951;995;957;994	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	V	1042;957;1042;224;224	ENSP00000298767:L957V	ENSP00000263070:L224V	L	-	1	0	WAPAL	88203037	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.152000	0.50677	0.658000	0.30925	0.655000	0.94253	CTC	WAPAL	-	pfam_WAPL_prot,superfamily_ARM-type_fold		0.433	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	G	NM_015045		88213057	-1	no_errors	ENST00000342368	ensembl	human	known	70_37	missense	SNP	1.000	C	C	88213057	G	C	88213057	3	2	176	1	0	0	0	0	1	0	0	0	17279	942	33	1	727	1	WAPAL	10	88213057	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	82718651	88213057	47321690	149	33267										
MUC5B	727897	genome.wustl.edu	37	chr11	1269691	1269691	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cttccaccccaggaacagctCacactaccaaagtgccgact	6	17	1	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:1269691C>T	ENST00000529681.1	+	31	11639	c.11581C>T	c.(11581-11583)Cac>Tac	p.H3861Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.H3864Y|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3861	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGAACAGCTCACACTACCAA	0.637																																																	0													111	128	123					11																	1269691		2068	4194	6262	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11581C>T	11.37:g.1269691C>T	ENSP00000436812:p.His3861Tyr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.H3864Y	ENST00000529681.1	37	c.11590	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	2.076	-0.411810	0.04799	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17054	2.3;2.49	2.54	-5.08	0.02929	.	.	.	.	.	T	0.05410	0.0143	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32955	-0.9887	9	0.87932	D	0	.	1.0543	0.01586	0.2424:0.289:0.2848:0.1838	.	4389;3864	A7Y9J9;E9PBJ0	.;.	Y	3861;3864;3805;3766	ENSP00000436812:H3861Y;ENSP00000415793:H3864Y	ENSP00000343037:H3805Y	H	+	1	0	MUC5B	1226267	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.000000	0.12993	-1.879000	0.01126	-1.050000	0.02344	CAC	MUC5B	-	NULL		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1269691	1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	T	T	1269691	C	T	1269691	3	4	176	1	0	0	0	0	1	0	0	0	10002	826	29	1	11712	1	MUC5B	11	1269691	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09		1269691	133736825	150	33268										
TH	7054	genome.wustl.edu	37	chr11	2191050	2191050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgccaccgccgcctcccgctCcttgcgggcgtcctcgatga	11	19	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:2191050C>T	ENST00000381178.1	-	3	253	c.235G>A	c.(235-237)Gag>Aag	p.E79K	TH_ENST00000333684.5_Missense_Mutation_p.E52K|TH_ENST00000352909.3_Missense_Mutation_p.E48K|TH_ENST00000381175.1_Missense_Mutation_p.E75K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	79					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCTCCCGCTCCTTGCGGGCG	0.716																																																	0													13	15	14					11																	2191050		2185	4264	6449	SO:0001583	missense	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.235G>A	11.37:g.2191050C>T	ENSP00000370571:p.Glu79Lys		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.E79K	ENST00000381178.1	37	c.235	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036133	0.93630	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99503	-6.03;-6.03;-5.99;-5.72	3.59	2.64	0.31445	Tyrosine hydroxylase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	L	0.49778	1.585	0.48288	D	0.999628	D;D;D;P;D;D	0.71674	0.998;0.992;0.992;0.95;0.996;0.995	D;P;P;P;D;D	0.68353	0.942;0.893;0.87;0.779;0.957;0.928	D	0.98096	1.0412	10	0.56958	D	0.05	.	9.665	0.39979	0.0:0.8934:0.0:0.1066	.	52;52;48;48;79;75	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	K	79;75;48;52	ENSP00000370571:E79K;ENSP00000370567:E75K;ENSP00000325951:E48K;ENSP00000328814:E52K	ENSP00000328814:E52K	E	-	1	0	TH	2147626	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.328000	0.59253	1.730000	0.51580	0.491000	0.48974	GAG	TH	-	pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase		0.716	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	HGNC	protein_coding	OTTHUMT00000026597.1	C	NM_000360		2191050	-1	no_errors	ENST00000381178	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2191050	C	T	2191050	3	4	176	1	0	0	0	0	1	0	0	0	15868	864	30	1	1399	1	TH	11	2191050	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	921359	2191050	132815466	151	33269										
OR56A1	120796	genome.wustl.edu	37	chr11	6048812	6048812	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gctcccatggccaggaggaaGagaaggctgaggggcaggga	19	8	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:6048812G>A	ENST00000316650.5	-	1	159	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGAGGAAGAGAAGGCTGA	0.602																																																	0													81	77	78					11																	6048812		2201	4296	6497	SO:0001819	synonymous_variant	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.123C>T	11.37:g.6048812G>A			B2RNI2|Q6IFL0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L41	ENST00000316650.5	37	c.123	CCDS31405.1	11																																																																																			OR56A1	-	prints_GPCR_Rhodpsn		0.602	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	G	NM_001001917		6048812	-1	no_errors	ENST00000316650	ensembl	human	known	70_37	silent	SNP	0.516	A	A	6048812	G	A	6048812	2	1	176	1	0	0	0	0	0	0	0	1	11157	929	33	1		1	OR56A1	11	6048812	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	3857762	6048812	128957704	152	33270										
HPX	3263	genome.wustl.edu	37	chr11	6452912	6452912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aagacccagggcagataaagGccgcatccacagagtccagg	12	12	0	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:6452912G>A	ENST00000265983.3	-	9	1188	c.1088C>T	c.(1087-1089)gCc>gTc	p.A363V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	363					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCAGATAAAGGCCGCATCCAC	0.557																																																	0													74	76	76					11																	6452912		2201	4296	6497	SO:0001583	missense	3263			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1088C>T	11.37:g.6452912G>A	ENSP00000265983:p.Ala363Val		B2R957	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata	p.A363V	ENST00000265983.3	37	c.1088	CCDS7763.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007569	0.75046	.	.	ENSG00000110169	ENST00000265983	T	0.16597	2.33	5.62	5.62	0.85841	Hemopexin/matrixin (2);	0.137928	0.64402	D	0.000003	T	0.30541	0.0768	M	0.72894	2.215	0.58432	D	0.999998	D	0.76494	0.999	P	0.48488	0.579	T	0.05289	-1.0894	10	0.87932	D	0	-9.0908	17.1339	0.86734	0.0:0.0:1.0:0.0	.	363	P02790	HEMO_HUMAN	V	363	ENSP00000265983:A363V	ENSP00000265983:A363V	A	-	2	0	HPX	6409488	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	6.271000	0.72569	2.656000	0.90262	0.561000	0.74099	GCC	HPX	-	superfamily_Hemopexin/matrixin,pirsf_Hemopexin_chordata		0.557	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	G	NM_000613		6452912	-1	no_errors	ENST00000265983	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6452912	G	A	6452912	3	1	176	1	0	0	0	0	1	0	0	0	7366	1203	42	4	308	4	HPX	11	6452912	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	404100	6452912	128553604	153	33271										
ZBTB3	79842	genome.wustl.edu	37	chr11	62520586	62520586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tagacattggtggctcatctGgaggacggacagtaggtgag	16	6	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:62520586G>A	ENST00000394807.3	-	2	826	c.701C>T	c.(700-702)cCa>cTa	p.P234L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	234	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGGCTCATCTGGAGGACGGAC	0.592																																																	0													112	94	100					11																	62520586		2202	4299	6501	SO:0001583	missense	79842			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.701C>T	11.37:g.62520586G>A	ENSP00000378286:p.Pro234Leu			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P234L	ENST00000394807.3	37	c.701	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513320	0.27123	.	.	ENSG00000185670	ENST00000394807	T	0.13196	2.61	5.04	5.04	0.67666	.	0.716530	0.13069	N	0.416242	T	0.09024	0.0223	N	0.19112	0.55	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.20571	-1.0271	10	0.08599	T	0.76	.	13.7592	0.62954	0.0:0.0:1.0:0.0	.	234	Q9H5J0	ZBTB3_HUMAN	L	234	ENSP00000378286:P234L	ENSP00000378286:P234L	P	-	2	0	ZBTB3	62277162	0.992000	0.36948	0.999000	0.59377	0.912000	0.54170	2.345000	0.44018	2.593000	0.87608	0.561000	0.74099	CCA	ZBTB3	-	NULL		0.592	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	HGNC	protein_coding	OTTHUMT00000395342.1	G	NM_024784		62520586	-1	no_errors	ENST00000394807	ensembl	human	known	70_37	missense	SNP	0.145	A	A	62520586	G	A	62520586	3	1	176	1	0	0	0	0	1	0	0	0	17564	1348	47	4	1027	4	ZBTB3	11	62520586	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	56067674	62520586	72485930	154	33272										
SLC22A6	9356	genome.wustl.edu	37	chr11	62752043	62752043	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgggtagggatggcagcagtGaagttctgcagggtgttgtg	19	4	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:62752043G>A	ENST00000377871.3	-	1	386	c.120C>T	c.(118-120)ttC>ttT	p.F40F	SLC22A6_ENST00000458333.2_Silent_p.F40F|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Silent_p.F40F|SLC22A6_ENST00000421062.2_Silent_p.F40F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	40					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGGCAGCAGTGAAGTTCTGCA	0.672																																																	0													42	40	41					11																	62752043		2201	4298	6499	SO:0001819	synonymous_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.120C>T	11.37:g.62752043G>A			A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.F40	ENST00000377871.3	37	c.120	CCDS31591.1	11																																																																																			SLC22A6	-	tigrfam_Orgcat_transp		0.672	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	G	NM_004790		62752043	-1	no_errors	ENST00000377871	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62752043	G	A	62752043	2	1	176	1	0	0	0	0	0	0	0	1	14488	1281	45	1		1	SLC22A6	11	62752043	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	231457	62752043	72254473	155	33273										
STIP1	10963	genome.wustl.edu	37	chr11	63960623	63960623	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgatgccttacagtgctactCcgaagctattaagctggatc	9	10	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:63960623C>G	ENST00000305218.4	+	2	230	c.83C>G	c.(82-84)tCc>tGc	p.S28C	STIP1_ENST00000358794.5_Missense_Mutation_p.S75C|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.S28C|STIP1_ENST00000538945.1_Missense_Mutation_p.S28C	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	28					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CAGTGCTACTCCGAAGCTATT	0.517																																																	0													189	143	159					11																	63960623		2201	4297	6498	SO:0001583	missense	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.83C>G	11.37:g.63960623C>G	ENSP00000305958:p.Ser28Cys		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S28C	ENST00000305218.4	37	c.83	CCDS8058.1	11	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470267	0.63625	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.223432	0.44902	D	0.000402	T	0.78547	0.4300	M	0.89414	3.03	0.58432	D	0.999998	P;P;D	0.76494	0.877;0.94;0.999	P;P;P	0.61275	0.698;0.677;0.886	T	0.83241	-0.0058	10	0.87932	D	0	-8.8832	17.8892	0.88866	0.0:1.0:0.0:0.0	.	28;28;28	F5H0T1;P31948;F5H783	.;STIP1_HUMAN;.	C	75;28;28;28	ENSP00000351646:S75C;ENSP00000305958:S28C;ENSP00000445957:S28C;ENSP00000442704:S28C	ENSP00000305958:S28C	S	+	2	0	STIP1	63717199	1.000000	0.71417	0.925000	0.36789	0.011000	0.07611	7.259000	0.78381	2.593000	0.87608	0.655000	0.94253	TCC	STIP1	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.517	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	C	NM_006819		63960623	1	no_errors	ENST00000305218	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63960623	C	G	63960623	3	3	176	1	0	0	0	0	1	0	0	0	15315	855	30	1	89	1	STIP1	11	63960623	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1208580	63960623	71045893	156	33274										
STIP1	10963	genome.wustl.edu	37	chr11	63963265	63963265	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagagccaatggaagaagatCttccagagaataagaagcag	11	7	1	5			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:63963265C>T	ENST00000305218.4	+	5	799	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	STIP1_ENST00000358794.5_Missense_Mutation_p.L265F|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.L218F|STIP1_ENST00000538945.1_Missense_Mutation_p.L194F	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	218					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GGAAGAAGATCTTCCAGAGAA	0.458																																																	0													138	148	144					11																	63963265		2201	4297	6498	SO:0001583	missense	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.652C>T	11.37:g.63963265C>T	ENSP00000305958:p.Leu218Phe		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L218F	ENST00000305218.4	37	c.652	CCDS8058.1	11	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229790	0.58777	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	T;T;T;T	0.72051	2.44;2.67;2.44;-0.62	5.05	5.05	0.67936	.	0.060879	0.64402	D	0.000004	T	0.81108	0.4754	M	0.71296	2.17	0.52501	D	0.999954	D;D;P	0.71674	0.998;0.997;0.739	D;P;P	0.70487	0.969;0.878;0.63	T	0.81353	-0.0971	10	0.54805	T	0.06	-19.1999	11.5632	0.50790	0.0:0.9146:0.0:0.0854	.	194;218;218	F5H0T1;P31948;F5H783	.;STIP1_HUMAN;.	F	265;218;194;218	ENSP00000351646:L265F;ENSP00000305958:L218F;ENSP00000445957:L194F;ENSP00000442704:L218F	ENSP00000305958:L218F	L	+	1	0	STIP1	63719841	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.659000	0.54489	2.744000	0.94065	0.561000	0.74099	CTT	STIP1	-	NULL		0.458	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	C	NM_006819		63963265	1	no_errors	ENST00000305218	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63963265	C	T	63963265	3	4	176	1	0	0	0	0	1	0	0	0	15315	913	32	1	670	1	STIP1	11	63963265	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2642	63963265	71043251	157	33275										
PLCB3	5331	genome.wustl.edu	37	chr11	64023987	64023987	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggctgctcatcgaaaagtatGagcccaaccagcagtttctg	10	11	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:64023987G>A	ENST00000540288.1	+	9	941	c.838G>A	c.(838-840)Gag>Aag	p.E280K	PLCB3_ENST00000325234.5_Missense_Mutation_p.E213K|PLCB3_ENST00000279230.6_Missense_Mutation_p.E280K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	280					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CGAAAAGTATGAGCCCAACCA	0.642																																																	0													80	96	91					11																	64023987		2201	4297	6498	SO:0001583	missense	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.838G>A	11.37:g.64023987G>A	ENSP00000443631:p.Glu280Lys		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E280K	ENST00000540288.1	37	c.838	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.696110	0.96802	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.59224	0.28;0.28;0.28	5.41	5.41	0.78517	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81730	0.4884	M	0.91140	3.18	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.991	D	0.85873	0.1417	10	0.87932	D	0	.	17.9779	0.89132	0.0:0.0:1.0:0.0	.	213;280	G5E960;Q01970	.;PLCB3_HUMAN	K	280;280;213	ENSP00000279230:E280K;ENSP00000443631:E280K;ENSP00000324660:E213K	ENSP00000279230:E280K	E	+	1	0	PLCB3	63780563	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.718000	0.98758	2.543000	0.85770	0.561000	0.74099	GAG	PLCB3	-	pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like		0.642	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	G			64023987	1	no_errors	ENST00000279230	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64023987	G	A	64023987	3	1	176	1	0	0	0	0	1	0	0	0	12053	1291	45	1	872	1	PLCB3	11	64023987	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	60722	64023987	70982529	158	33276										
CCDC88B	283234	genome.wustl.edu	37	chr11	64119761	64119761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccctggcacagctgcagcggCggcaggaggccgagctagag	17	13	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:64119761C>T	ENST00000356786.5	+	19	3303	c.3259C>T	c.(3259-3261)Cgg>Tgg	p.R1087W	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R239W|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1087						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGCAGCGGCGGCAGGAGGC	0.726																																																	0													13	15	14					11																	64119761		2165	4209	6374	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3259C>T	11.37:g.64119761C>T	ENSP00000349238:p.Arg1087Trp		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_HOOK	p.R1087W	ENST00000356786.5	37	c.3259	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	c	19.79	3.893860	0.72639	.	.	ENSG00000168071	ENST00000356786;ENST00000359902	T;T	0.56941	1.42;0.43	4.88	2.72	0.32119	.	.	.	.	.	T	0.69833	0.3155	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.72633	-0.4234	9	0.72032	D	0.01	.	10.9094	0.47099	0.3496:0.6504:0.0:0.0	.	1087;223;1087	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	W	1087;239	ENSP00000349238:R1087W;ENSP00000352974:R239W	ENSP00000349238:R1087W	R	+	1	2	CCDC88B	63876337	0.764000	0.28473	1.000000	0.80357	0.992000	0.81027	-0.277000	0.08502	1.021000	0.39600	0.462000	0.41574	CGG	CCDC88B	-	NULL		0.726	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	C	NM_032251		64119761	1	no_errors	ENST00000356786	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64119761	C	T	64119761	3	4	176	1	0	0	0	0	1	0	0	0	2869	759	27	2	3333	2	CCDC88B	11	64119761	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	95774	64119761	70886755	159	33277										
SSH3	54961	genome.wustl.edu	37	chr11	67072324	67072324	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgatgcagcagaggccagttCtgagccaacagagaaggccc	13	11	1	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:67072324C>T	ENST00000308127.4	+	3	363	c.185C>T	c.(184-186)tCt>tTt	p.S62F	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.S62F|SSH3_ENST00000376757.5_Missense_Mutation_p.S62F	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	62					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGGCCAGTTCTGAGCCAACA	0.632																																																	0													55	56	56					11																	67072324		2200	4295	6495	SO:0001583	missense	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.185C>T	11.37:g.67072324C>T	ENSP00000312081:p.Ser62Phe		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S62F	ENST00000308127.4	37	c.185	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	C	9.290	1.050358	0.19827	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.32988	3.71;1.43;3.77	4.65	2.67	0.31697	.	1.801060	0.02658	N	0.107215	T	0.22360	0.0539	L	0.32530	0.975	0.09310	N	1	B	0.29805	0.257	B	0.21151	0.033	T	0.15350	-1.0440	10	0.23891	T	0.37	4.5795	4.5847	0.12277	0.2136:0.6654:0.0:0.121	.	62	Q8TE77	SSH3_HUMAN	F	62	ENSP00000312081:S62F;ENSP00000310055:S62F;ENSP00000365948:S62F	ENSP00000312081:S62F	S	+	2	0	SSH3	66828900	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.442000	0.21628	0.503000	0.28060	0.561000	0.74099	TCT	SSH3	-	NULL		0.632	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	C	NM_018276		67072324	1	no_errors	ENST00000308127	ensembl	human	known	70_37	missense	SNP	0.002	T	T	67072324	C	T	67072324	3	4	176	1	0	0	0	0	1	0	0	0	15216	913	32	1	195	1	SSH3	11	67072324	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2952563	67072324	67934192	160	33278										
TPCN2	219931	genome.wustl.edu	37	chr11	68822655	68822655	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctttccaggactttgagcttCaccatcttcttgatcctgtt	6	12	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:68822655C>T	ENST00000294309.3	+	4	365	c.264C>T	c.(262-264)ttC>ttT	p.F88F	TPCN2_ENST00000542467.1_Silent_p.F88F|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	88					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTTTGAGCTTCACCATCTTCT	0.592																																																	0													217	194	202					11																	68822655		2200	4294	6494	SO:0001819	synonymous_variant	219931			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.264C>T	11.37:g.68822655C>T			Q9NT82	Silent	SNP	pfam_Ion_trans_dom	p.F88	ENST00000294309.3	37	c.264	CCDS8189.1	11																																																																																			TPCN2	-	NULL		0.592	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN2	HGNC	protein_coding	OTTHUMT00000396878.2	C	NM_139075		68822655	1	no_errors	ENST00000294309	ensembl	human	known	70_37	silent	SNP	0.015	T	T	68822655	C	T	68822655	2	4	176	1	0	0	0	0	0	0	0	1	16427	825	29	1		1	TPCN2	11	68822655	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1750331	68822655	66183861	161	33279										
OR8B2	26595	genome.wustl.edu	37	chr11	124253147	124253147	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtgacaatgtagatcactagAaacaggaaaaagaggggttg	13	4	1	4	rs530704	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:124253147A>G	ENST00000375013.2	-	1	111	c.93T>C	c.(91-93)ttT>ttC	p.F31F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGATCACTAGAAACAGGAAAA	0.418																																																	0													210	177	188					11																	124253147		2201	4299	6500	SO:0001819	synonymous_variant	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.93T>C	11.37:g.124253147A>G			Q8NGH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31	ENST00000375013.2	37	c.93	CCDS31708.1	11																																																																																			OR8B2	-	prints_GPCR_Rhodpsn		0.418	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	HGNC	protein_coding	OTTHUMT00000387290.1	A	NM_001005468		124253147	-1	no_errors	ENST00000375013	ensembl	human	known	70_37	silent	SNP	0.003	G	G	124253147	A	G	124253147	2	3	176	1	0	0	0	0	0	0	0	1	11251	243	9	5		5	OR8B2	11	124253147	Silent	SNP	A	TCGA-MY-A5BD-01A-11D-A26G-09	55430492	124253147	10753369	162	33280										
IGSF9B	22997	genome.wustl.edu	37	chr11	133805598	133805598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acttccccgagtcctccggcTtcacccggaagatgatcagg	10	15	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:133805598T>C	ENST00000321016.8	-	7	1111	c.881A>G	c.(880-882)aAg>aGg	p.K294R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.K294R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	294	Ig-like 3.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCTCCGGCTTCACCCGGAA	0.647																																																	0													26	31	29					11																	133805598		2047	4184	6231	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.881A>G	11.37:g.133805598T>C	ENSP00000317980:p.Lys294Arg		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K294R	ENST00000321016.8	37	c.881		11	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511237	0.64522	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.26223	1.75;1.75;1.75	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Fibronectin, type III (2);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.16471	0.0396	N	0.02665	-0.54	0.53688	D	0.999974	B	0.29188	0.236	B	0.40982	0.345	T	0.34900	-0.9810	9	0.23891	T	0.37	.	15.5681	0.76309	0.0:0.0:0.0:1.0	.	294	Q9UPX0	TUTLB_HUMAN	R	294;136;294	ENSP00000317980:K294R;ENSP00000436552:K136R;ENSP00000436576:K294R	ENSP00000317980:K294R	K	-	2	0	IGSF9B	133310808	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	3.978000	0.56881	2.071000	0.62044	0.459000	0.35465	AAG	IGSF9B	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.647	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		T	XM_290502		133805598	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	missense	SNP	1.000	C	C	133805598	T	C	133805598	3	2	176	1	0	0	0	0	1	0	0	0	7626	1609	56	5	3220	5	IGSF9B	11	133805598	Missense_Mutation	SNP	T	TCGA-MY-A5BD-01A-11D-A26G-09	9552451	133805598	1200918	163	33281										
CACNA1C	775	genome.wustl.edu	37	chr12	2797857	2797857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gggcagcagcgccgcccggaGagtccggcccgtctccctca	14	18	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:2797857G>A	ENST00000347598.4	+	48	6173	c.6173G>A	c.(6172-6174)aGa>aAa	p.R2058K	CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2051K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R2035K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R2038K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R2030K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R2029K|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2081K|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R2018K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R2027K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R2045K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R2045K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R2016K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R2018K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R2029K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R2029K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2081K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2093					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCGCCCGGAGAGTCCGGCCC	0.692																																																	0													17	21	20					12																	2797857		1907	4097	6004	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6173G>A	12.37:g.2797857G>A	ENSP00000266376:p.Arg2058Lys		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R2081K	ENST00000347598.4	37	c.6242	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	6.698	0.497470	0.12762	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.21	1.3	0.21679	.	0.368951	0.25227	N	0.032191	T	0.43500	0.1250	N	0.22421	0.69	0.22479	N	0.999066	B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.63046	0.002;0.992;0.001;0.123;0.004;0.001;0.001;0.001;0.0;0.001;0.002;0.001;0.001;0.001;0.0;0.011;0.001;0.0;0.002;0.0;0.001;0.001;0.002;0.001;0.001	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.59012	0.002;0.85;0.001;0.041;0.006;0.003;0.001;0.002;0.002;0.002;0.003;0.001;0.004;0.003;0.001;0.009;0.004;0.002;0.003;0.001;0.001;0.003;0.002;0.001;0.001	T	0.37361	-0.9709	10	0.20519	T	0.43	.	10.1409	0.42734	0.3377:0.0:0.6623:0.0	.	701;2051;2007;2093;2045;2029;2010;2027;2038;2010;2030;2010;2041;2058;2010;2045;2081;2018;2016;2018;1999;2029;2029;2010;2010	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	2035;2010;2010;2038;2010;2029;2029;2018;2010;2058;2030;2010;2051;2027;2045;2016;2029;2010;2081;2045;2081;2018;1911	ENSP00000336982:R2035K;ENSP00000382563:R2010K;ENSP00000382552:R2010K;ENSP00000382547:R2038K;ENSP00000382506:R2010K;ENSP00000382530:R2029K;ENSP00000382546:R2029K;ENSP00000382500:R2018K;ENSP00000382549:R2010K;ENSP00000266376:R2058K;ENSP00000382515:R2030K;ENSP00000382510:R2010K;ENSP00000341092:R2051K;ENSP00000382537:R2027K;ENSP00000329877:R2045K;ENSP00000382557:R2016K;ENSP00000385724:R2029K;ENSP00000382512:R2010K;ENSP00000382542:R2081K;ENSP00000382526:R2045K;ENSP00000385896:R2081K;ENSP00000382504:R2018K	ENSP00000323129:R1911K	R	+	2	0	CACNA1C	2668118	1.000000	0.71417	0.965000	0.40720	0.043000	0.13939	1.696000	0.37773	0.221000	0.20879	-0.369000	0.07265	AGA	CACNA1C	-	NULL		0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2797857	1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2797857	G	A	2797857	3	1	176	1	0	0	0	0	1	0	0	0	2545	942	33	1	6920	1	CACNA1C	12	2797857	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		2797857	131054038	164	33282										
TAS2R31	259290	genome.wustl.edu	37	chr12	11183564	11183564	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccagaatgacactcttaactCtcctctttaagtgaagaaaa	5	10	3	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:11183564C>T	ENST00000390675.2	-	1	442	c.371G>A	c.(370-372)aGa>aAa	p.R124K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	124					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						ACTCTTAACTCTCCTCTTTAA	0.388																																																	0													92	104	100					12																	11183564		2040	4254	6294	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.371G>A	12.37:g.11183564C>T	ENSP00000375093:p.Arg124Lys		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.R124K	ENST00000390675.2	37	c.371	CCDS53747.1	12	.	.	.	.	.	.	.	.	.	.	.	9.330	1.060270	0.19987	.	.	ENSG00000256436	ENST00000390675	T	0.01051	5.4	2.45	1.44	0.22558	.	.	.	.	.	T	0.01421	0.0046	L	0.43598	1.365	0.09310	N	1	B	0.18863	0.031	B	0.29785	0.107	T	0.46359	-0.9197	9	0.41790	T	0.15	.	4.3197	0.11011	0.0:0.7562:0.0:0.2438	.	124	P59538	T2R31_HUMAN	K	124	ENSP00000375093:R124K	ENSP00000375093:R124K	R	-	2	0	TAS2R31	11074831	0.004000	0.15560	0.007000	0.13788	0.328000	0.28507	0.729000	0.26028	0.284000	0.22305	0.194000	0.17425	AGA	TAS2R31	-	pfam_TAS2_rcpt		0.388	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R31	HGNC	protein_coding	OTTHUMT00000400233.1	C	NM_176885		11183564	-1	no_errors	ENST00000390675	ensembl	human	known	70_37	missense	SNP	0.066	T	T	11183564	C	T	11183564	3	4	176	1	0	0	0	0	1	0	0	0	15604	913	32	1	562	1	TAS2R31	12	11183564	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	8385707	11183564	122668331	165	33283										
IL23A	51561	genome.wustl.edu	37	chr12	56733530	56733530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttatgagaagctgctaggatCggatattttcacaggggagc	13	6	1	1	rs201997002		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:56733530C>T	ENST00000228534.4	+	3	483	c.317C>T	c.(316-318)tCg>tTg	p.S106L	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	106					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGCTAGGATCGGATATTTTC	0.507																																																	0								C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	96	97	96		317	5.1	1	12		96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IL23A	NM_016584.2	145	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	106/190	56733530	3,13003	2203	4300	6503	SO:0001583	missense	51561			AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"Interleukins and interleukin receptors"	15488	protein-coding gene	gene with protein product	"interleukin-six, G-CSF related factor"	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.317C>T	12.37:g.56733530C>T	ENSP00000228534:p.Ser106Leu		Q6NZ80|Q6NZ82|Q9H2A5	Missense_Mutation	SNP	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core	p.S106L	ENST00000228534.4	37	c.317	CCDS8916.1	12	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736212	0.69189	4.54E-4	1.16E-4	ENSG00000110944	ENST00000228534	T	0.30448	1.53	5.14	5.14	0.70334	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.50627	D	0.000115	T	0.45955	0.1368	L	0.36672	1.1	0.41337	D	0.987272	D	0.89917	1.0	D	0.91635	0.999	T	0.40496	-0.9560	10	0.87932	D	0	-10.8538	14.8223	0.70082	0.0:1.0:0.0:0.0	.	106	Q9NPF7	IL23A_HUMAN	L	106	ENSP00000228534:S106L	ENSP00000228534:S106L	S	+	2	0	IL23A	55019797	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	3.616000	0.54174	2.779000	0.95612	0.563000	0.77884	TCG	IL23A	-	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core		0.507	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23A	HGNC	protein_coding		C	NM_016584		56733530	1	no_errors	ENST00000228534	ensembl	human	known	70_37	missense	SNP	0.999	T	T	56733530	C	T	56733530	3	4	176	1	0	0	0	0	1	0	0	0	7695	893	31	1	327	1	IL23A	12	56733530	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	45549966	56733530	77118365	166	33284										
IL23A	51561	genome.wustl.edu	37	chr12	56733801	56733801	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccatggcagcgtctccttctCcgcttcaaaatccttcgcag	7	16	3	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:56733801C>G	ENST00000228534.4	+	4	649	c.483C>G	c.(481-483)ctC>ctG	p.L161L	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	161					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GTCTCCTTCTCCGCTTCAAAA	0.587																																																	0													100	106	104					12																	56733801		2203	4300	6503	SO:0001819	synonymous_variant	51561			AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"Interleukins and interleukin receptors"	15488	protein-coding gene	gene with protein product	"interleukin-six, G-CSF related factor"	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.483C>G	12.37:g.56733801C>G			Q6NZ80|Q6NZ82|Q9H2A5	Silent	SNP	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core	p.L161	ENST00000228534.4	37	c.483	CCDS8916.1	12																																																																																			IL23A	-	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core		0.587	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23A	HGNC	protein_coding		C	NM_016584		56733801	1	no_errors	ENST00000228534	ensembl	human	known	70_37	silent	SNP	1.000	G	G	56733801	C	G	56733801	2	3	176	1	0	0	0	0	0	0	0	1	7695	842	30	1		1	IL23A	12	56733801	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	271	56733801	77118094	167	33285										
TIMELESS	8914	genome.wustl.edu	37	chr12	56817595	56817595	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	actcacggggaagtggagcaGagaggatttgtttcagcaac	14	7	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:56817595G>A	ENST00000553532.1	-	16	2102	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	TIMELESS_ENST00000229201.4_Missense_Mutation_p.S650F|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AAGTGGAGCAGAGAGGATTTG	0.493																																																	0													153	146	148					12																	56817595		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1952C>T	12.37:g.56817595G>A	ENSP00000450607:p.Ser651Phe			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.S651F	ENST00000553532.1	37	c.1952	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	G	1.572	-0.533938	0.04082	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.06142	3.34;3.34	5.26	-0.183	0.13284	.	0.863844	0.10705	N	0.643582	T	0.02418	0.0074	N	0.10809	0.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47058	-0.9146	10	0.07990	T	0.79	3.7482	1.5957	0.02663	0.3236:0.2831:0.2797:0.1136	.	651	Q9UNS1	TIM_HUMAN	F	650;651	ENSP00000229201:S650F;ENSP00000450607:S651F	ENSP00000229201:S651F	S	-	2	0	TIMELESS	55103862	0.000000	0.05858	0.025000	0.17156	0.725000	0.41563	0.826000	0.27407	-0.247000	0.09597	0.561000	0.74099	TCT	TIMELESS	-	NULL		0.493	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	G	NM_003920		56817595	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	0.040	A	A	56817595	G	A	56817595	3	1	176	1	0	0	0	0	1	0	0	0	15934	942	33	1	1730	1	TIMELESS	12	56817595	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	83794	56817595	77034300	168	33286										
TMEM194A	23306	genome.wustl.edu	37	chr12	57464515	57464515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ataatctcaactttgaggcaGgtttttgtgctgtatagacc	9	7	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:57464515G>A	ENST00000300128.4	-	3	437	c.414C>T	c.(412-414)acC>acT	p.T138T	TMEM194A_ENST00000553654.1_5'UTR|TMEM194A_ENST00000379391.3_Intron	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	138						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTTTGAGGCAGGTTTTTGTGC	0.388																																																	0													244	211	221					12																	57464515		692	1591	2283	SO:0001819	synonymous_variant	23306			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"transmembrane protein 194"	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.414C>T	12.37:g.57464515G>A			Q17R72|Q68DH0|Q6IQ25	Silent	SNP	pfam_TMEM194	p.T138	ENST00000300128.4	37	c.414	CCDS44927.1	12																																																																																			TMEM194A	-	NULL		0.388	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM194A	HGNC	protein_coding	OTTHUMT00000411272.1	G	NM_015257		57464515	-1	no_errors	ENST00000300128	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57464515	G	A	57464515	2	1	176	1	0	0	0	0	0	0	0	1	16146	987	35	4		4	TMEM194A	12	57464515	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	646920	57464515	76387380	169	33287										
MARCH9	92979	genome.wustl.edu	37	chr12	58152517	58152517	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctcacggacgggccccacctCtggggccacgagccgccccc	12	21	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:58152517C>G	ENST00000266643.5	+	4	1309	c.878C>G	c.(877-879)tCt>tGt	p.S293C	MARCH9_ENST00000548358.1_Missense_Mutation_p.S180C	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	293					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGCCCCACCTCTGGGGCCACG	0.637																																																	0													21	23	22					12																	58152517		2200	4296	6496	SO:0001583	missense	92979			BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.878C>G	12.37:g.58152517C>G	ENSP00000266643:p.Ser293Cys		B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S293C	ENST00000266643.5	37	c.878	CCDS31847.1	12	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762650	0.49574	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.33216	2.43;1.42	5.56	5.56	0.83823	.	0.466136	0.17187	U	0.183670	T	0.44265	0.1285	L	0.36672	1.1	0.30773	N	0.742817	D;P	0.55172	0.97;0.662	P;B	0.58013	0.831;0.213	T	0.39210	-0.9625	10	0.72032	D	0.01	.	18.4399	0.90662	0.0:1.0:0.0:0.0	.	180;293	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	C	293;180	ENSP00000266643:S293C;ENSP00000446758:S180C	ENSP00000266643:S293C	S	+	2	0	MARCH9	56438784	0.780000	0.28664	0.944000	0.38274	0.998000	0.95712	5.278000	0.65592	2.890000	0.99128	0.655000	0.94253	TCT	MARCH9	-	NULL		0.637	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH9	HGNC	protein_coding	OTTHUMT00000409244.1	C	NM_138396		58152517	1	no_errors	ENST00000266643	ensembl	human	known	70_37	missense	SNP	0.817	G	G	58152517	C	G	58152517	3	3	176	1	0	0	0	0	1	0	0	0	9331	913	32	1	892	1	MARCH9	12	58152517	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	688002	58152517	75699378	170	33288										
TMPO	7112	genome.wustl.edu	37	chr12	98931269	98931269	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccagactctaaaatagagctCaagcttgagaagagagaacc	9	9	2	5			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:98931269C>G	ENST00000556029.1	+	4	938	c.582C>G	c.(580-582)ctC>ctG	p.L194L	TMPO_ENST00000261210.5_Silent_p.L194L|TMPO_ENST00000343315.5_Silent_p.L194L|TMPO_ENST00000393053.2_Silent_p.L194L	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	194	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAATAGAGCTCAAGCTTGAGA	0.378																																																	0													81	76	78					12																	98931269		2203	4300	6503	SO:0001819	synonymous_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.582C>G	12.37:g.98931269C>G			A2T926|Q14861	Silent	SNP	pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM	p.L194	ENST00000556029.1	37	c.582	CCDS31879.1	12																																																																																			TMPO	-	NULL		0.378	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	C	NM_003276		98931269	1	no_errors	ENST00000556029	ensembl	human	known	70_37	silent	SNP	1.000	G	G	98931269	C	G	98931269	2	3	176	1	0	0	0	0	0	0	0	1	16267	813	29	1		1	TMPO	12	98931269	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	40778752	98931269	34920626	171	33289										
APAF1	317	genome.wustl.edu	37	chr12	99042547	99042547	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	catgatggcattcctgttgtCtcttcttccagtggtaaaga	9	9	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:99042547C>T	ENST00000551964.1	+	3	1018	c.282C>T	c.(280-282)gtC>gtT	p.V94V	APAF1_ENST00000549007.1_Silent_p.V94V|APAF1_ENST00000333991.1_Silent_p.V94V|APAF1_ENST00000339433.3_Silent_p.V94V|APAF1_ENST00000357310.1_Silent_p.V94V|APAF1_ENST00000552268.1_Silent_p.V94V|APAF1_ENST00000547045.1_Silent_p.V94V|APAF1_ENST00000550527.1_Silent_p.V94V|APAF1_ENST00000547743.1_Silent_p.V94V|APAF1_ENST00000359972.2_Silent_p.V94V	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	94					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTCCTGTTGTCTCTTCTTCCA	0.358																																																	0													204	201	202					12																	99042547		2203	4300	6503	SO:0001819	synonymous_variant	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.282C>T	12.37:g.99042547C>T			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.V94	ENST00000551964.1	37	c.282	CCDS9069.1	12																																																																																			APAF1	-	pirsf_Apoptotic_pept-activating_1		0.358	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	C	NM_181861.1		99042547	1	no_errors	ENST00000551964	ensembl	human	known	70_37	silent	SNP	0.006	T	T	99042547	C	T	99042547	2	4	176	1	0	0	0	0	0	0	0	1	755	900	32	1		1	APAF1	12	99042547	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	111278	99042547	34809348	172	33290										
STAB2	55576	genome.wustl.edu	37	chr12	103988265	103988265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccaacctcggtgttgtcctgGccgctggggcccagactgta	13	14	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:103988265G>A	ENST00000388887.2	+	3	512	c.308G>A	c.(307-309)gGc>gAc	p.G103D	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTTGTCCTGGCCGCTGGGGC	0.498																																																	0													143	127	133					12																	103988265		2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.308G>A	12.37:g.103988265G>A	ENSP00000373539:p.Gly103Asp			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G103D	ENST00000388887.2	37	c.308	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951813	0.73787	.	.	ENSG00000136011	ENST00000388887	D	0.88201	-2.35	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.95446	0.8521	M	0.92555	3.32	0.48395	D	0.99964	D	0.71674	0.998	P	0.62649	0.905	D	0.95942	0.8947	10	0.87932	D	0	.	17.2896	0.87152	0.0:0.0:1.0:0.0	.	103	Q8WWQ8	STAB2_HUMAN	D	103	ENSP00000373539:G103D	ENSP00000373539:G103D	G	+	2	0	STAB2	102512395	1.000000	0.71417	0.913000	0.36048	0.543000	0.35085	5.829000	0.69316	2.894000	0.99253	0.591000	0.81541	GGC	STAB2	-	NULL		0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	G			103988265	1	no_errors	ENST00000388887	ensembl	human	known	70_37	missense	SNP	0.977	A	A	103988265	G	A	103988265	3	1	176	1	0	0	0	0	1	0	0	0	15268	1203	42	4	318	4	STAB2	12	103988265	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	4945718	103988265	29863630	173	33291										
GPN3	29902	genome.wustl.edu	37	chr12	110906383	110906383	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	atggtgaccctcgcgatttgCaaatgtgctgaggatctgga	13	8	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:110906383C>T	ENST00000377673.5	+	0	215				GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000543199.1_Missense_Mutation_p.C20Y|GPN3_ENST00000537466.2_5'Flank|GPN3_ENST00000228827.3_5'Flank	NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A																		TCGCGATTTGCAAATGTGCTG	0.517																																																	0													344	305	317					12																	110906383		692	1591	2283	SO:0001623	5_prime_UTR_variant	51184			U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 24"	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.-298C>T	12.37:g.110906383C>T			A6NH30|Q99776	Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd	p.C20Y	ENST00000377673.5	37	c.59	CCDS31899.1	12	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452505	0.43531	.	.	ENSG00000111231	ENST00000543199	T	0.25250	1.81	4.54	3.64	0.41730	.	.	.	.	.	T	0.15305	0.0369	N	0.08118	0	0.24268	N	0.995259	.	.	.	.	.	.	T	0.09271	-1.0682	7	0.54805	T	0.06	.	7.7882	0.29103	0.0:0.8895:0.0:0.1105	.	.	.	.	Y	20	ENSP00000442770:C20Y	ENSP00000442770:C20Y	C	-	2	0	GPN3	109390766	0.533000	0.26354	0.009000	0.14445	0.079000	0.17450	1.667000	0.37471	2.506000	0.84524	0.462000	0.41574	TGC	GPN3	-	NULL		0.517	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPN3	HGNC	protein_coding	OTTHUMT00000404616.1	C	NM_013300		110906383	-1	no_errors	ENST00000543199	ensembl	human	known	70_37	missense	SNP	0.006	T	T	110906383	C	T	110906383	1	4	176	0	1	0	0	0	0	0	0	0	6638	710	25	4		4	GPN3	12	110906383	5'UTR	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	6918118	110906383	22945512	174	33292										
NAA25	80018	genome.wustl.edu	37	chr12	112491435	112491435	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagcagcatactgacctagaGattcagcatatcgggtcaaa	9	10	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:112491435G>A	ENST00000261745.4	-	15	1903	c.1655C>T	c.(1654-1656)tCt>tTt	p.S552F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	552						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTGACCTAGAGATTCAGCATA	0.363																																																	0													60	55	56					12																	112491435		2203	4300	6503	SO:0001583	missense	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1655C>T	12.37:g.112491435G>A	ENSP00000261745:p.Ser552Phe		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.S552F	ENST00000261745.4	37	c.1655	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.251094	0.95305	.	.	ENSG00000111300	ENST00000261745	T	0.50001	0.76	5.99	5.99	0.97316	Tetratricopeptide-like helical (1);	0.172248	0.53938	D	0.000058	T	0.63224	0.2493	L	0.59436	1.845	0.80722	D	1	P;P	0.47484	0.896;0.896	P;P	0.55455	0.776;0.678	T	0.59547	-0.7434	10	0.51188	T	0.08	-11.0531	20.4777	0.99188	0.0:0.0:1.0:0.0	.	552;552	A8K8X0;Q14CX7	.;NAA25_HUMAN	F	552	ENSP00000261745:S552F	ENSP00000261745:S552F	S	-	2	0	NAA25	110975818	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	9.414000	0.97362	2.840000	0.97914	0.655000	0.94253	TCT	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat		0.363	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	G	NM_024953		112491435	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	missense	SNP	0.985	A	A	112491435	G	A	112491435	3	1	176	1	0	0	0	0	1	0	0	0	10144	942	33	1	1303	1	NAA25	12	112491435	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1585052	112491435	21360460	175	33293										
MPHOSPH9	10198	genome.wustl.edu	37	chr12	123645783	123645783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cattcccctgtggagtgactGaaaccggcttacactgttcg	10	12	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:123645783G>A	ENST00000606320.1	-	22	3487	c.3281C>T	c.(3280-3282)tCa>tTa	p.S1094L	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S942L|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S1064L|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S942L			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1094						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGGAGTGACTGAAACCGGCTT	0.423																																																	0													122	112	115					12																	123645783		2203	4300	6503	SO:0001583	missense	10198			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3281C>T	12.37:g.123645783G>A	ENSP00000475489:p.Ser1094Leu		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.S942L	ENST00000606320.1	37	c.2825		12	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135557	0.56828	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	T;T;T	0.45668	0.89;1.51;1.5	5.58	3.75	0.43078	.	1.301910	0.05671	N	0.588704	T	0.29749	0.0743	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31024	-0.9958	10	0.10636	T	0.68	-0.1257	3.1242	0.06401	0.1269:0.1259:0.4871:0.2601	.	942	Q99550	MPP9_HUMAN	L	120;942;942	ENSP00000446362:S120L;ENSP00000303597:S942L;ENSP00000445859:S942L	ENSP00000303597:S942L	S	-	2	0	MPHOSPH9	122211736	0.002000	0.14202	0.002000	0.10522	0.940000	0.58332	1.251000	0.32862	0.719000	0.32188	0.563000	0.77884	TCA	MPHOSPH9	-	NULL		0.423	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	G			123645783	-1	no_errors	ENST00000541076	ensembl	human	known	70_37	missense	SNP	0.000	A	A	123645783	G	A	123645783	3	1	176	1	0	0	0	0	1	0	0	0	9751	1294	45	1	282	1	MPHOSPH9	12	123645783	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	11154348	123645783	10206112	176	33294										
MPHOSPH9	10198	genome.wustl.edu	37	chr12	123702982	123702982	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tttagatcttgaacctccatCttctacatgtgctctctttg	5	11	4	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:123702982C>G	ENST00000606320.1	-	6	1143	c.937G>C	c.(937-939)Gat>Cat	p.D313H	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D161H|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D283H|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D161H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	313						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GAACCTCCATCTTCTACATGT	0.378																																																	0													261	226	238					12																	123702982		2203	4300	6503	SO:0001583	missense	10198			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.937G>C	12.37:g.123702982C>G	ENSP00000475489:p.Asp313His		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.D161H	ENST00000606320.1	37	c.481		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.258329|4.258329	0.80246|0.80246	.|.	.|.	ENSG00000051825|ENSG00000257076	ENST00000302349;ENST00000541076|ENST00000539336	T;T|.	0.35973|.	1.28;1.29|.	4.93|4.93	4.03|4.03	0.46877|0.46877	.|.	0.422615|.	0.24059|.	N|.	0.041937|.	T|T	0.58075|0.58075	0.2097|0.2097	L|L	0.43152|0.43152	1.355|1.355	0.37451|0.37451	D|D	0.914814|0.914814	P|.	0.45176|.	0.852|.	P|.	0.49301|.	0.606|.	T|T	0.60601|0.60601	-0.7231|-0.7231	10|5	0.72032|.	D|.	0.01|.	-8.6613|-8.6613	13.0009|13.0009	0.58673|0.58673	0.1616:0.8384:0.0:0.0|0.1616:0.8384:0.0:0.0	.|.	161|.	Q99550|.	MPP9_HUMAN|.	H|T	161|170	ENSP00000303597:D161H;ENSP00000445859:D161H|.	ENSP00000303597:D161H|.	D|R	-|-	1|2	0|0	MPHOSPH9|RP11-546D6.2	122268935|122268935	0.997000|0.997000	0.39634|0.39634	0.040000|0.040000	0.18447|0.18447	0.583000|0.583000	0.36354|0.36354	2.082000|2.082000	0.41605|0.41605	1.194000|1.194000	0.43101|0.43101	0.555000|0.555000	0.69702|0.69702	GAT|AGA	MPHOSPH9	-	NULL		0.378	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	C			123702982	-1	no_errors	ENST00000541076	ensembl	human	known	70_37	missense	SNP	0.956	G	G	123702982	C	G	123702982	3	3	176	1	0	0	0	0	1	0	0	0	9751	913	32	1	2690	1	MPHOSPH9	12	123702982	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	57199	123702982	10148913	177	33295										
TMEM132D	121256	genome.wustl.edu	37	chr12	129558610	129558610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttttcctttttgaggtagggGatgttgggggctcacttttc	13	6	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:129558610G>A	ENST00000422113.2	-	9	3436	c.3110C>T	c.(3109-3111)tCc>tTc	p.S1037F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S575F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1037					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGAGGTAGGGGATGTTGGGGG	0.493																																																	0													112	117	115					12																	129558610		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3110C>T	12.37:g.129558610G>A	ENSP00000408581:p.Ser1037Phe		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.S1037F	ENST00000422113.2	37	c.3110	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141358	0.77775	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14516	2.5;3.28	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000003	T	0.43523	0.1251	M	0.87180	2.865	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.53995	-0.8359	9	.	.	.	-34.6133	16.8313	0.85945	0.0:0.0:1.0:0.0	.	1037;575	Q14C87;Q14C87-2	T132D_HUMAN;.	F	575;1037	ENSP00000374092:S575F;ENSP00000408581:S1037F	.	S	-	2	0	TMEM132D	128124563	1.000000	0.71417	0.824000	0.32777	0.709000	0.40893	9.505000	0.97989	2.018000	0.59344	0.563000	0.77884	TCC	TMEM132D	-	NULL		0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	G	NM_133448		129558610	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129558610	G	A	129558610	3	1	176	1	0	0	0	0	1	0	0	0	16077	1174	41	1	193	1	TMEM132D	12	129558610	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	5855628	129558610	4293285	178	33296										
SFRS8	6433	genome.wustl.edu	37	chr12	132195808	132195808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcgggggccgcgccaaacccGagaggaaaagcggcgcgaag	18	12	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:132195808G>A	ENST00000261674.4	+	1	175	c.34G>A	c.(34-36)Gag>Aag	p.E12K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E12K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	12					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CGCCAAACCCGAGAGGAAAAG	0.687																																																	0													16	24	21					12																	132195808		2196	4292	6488	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.34G>A	12.37:g.132195808G>A	ENSP00000261674:p.Glu12Lys		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.E12K	ENST00000261674.4	37	c.34	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636478	0.87760	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.10382	2.88;2.89	4.45	4.45	0.53987	.	0.501196	0.21143	N	0.079455	T	0.10508	0.0257	N	0.19112	0.55	0.33612	D	0.60366	D;D	0.69078	0.997;0.977	P;B	0.53006	0.715;0.17	T	0.15464	-1.0436	10	0.20046	T	0.44	-24.0187	8.7692	0.34722	0.1049:0.0:0.8951:0.0	.	12;12	F5H6B8;Q12872	.;SFSWA_HUMAN	K	12	ENSP00000261674:E12K;ENSP00000437738:E12K	ENSP00000261674:E12K	E	+	1	0	SFSWAP	130761761	0.986000	0.35501	0.980000	0.43619	0.988000	0.76386	2.107000	0.41844	2.196000	0.70406	0.561000	0.74099	GAG	SFSWAP	-	NULL		0.687	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132195808	1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	0.940	A	A	132195808	G	A	132195808	3	1	176	1	0	0	0	0	1	0	0	0	14213	1059	37	1	36	1	SFRS8	12	132195808	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2637198	132195808	1656087	179	33297										
NBEA	26960	genome.wustl.edu	37	chr13	36026253	36026253	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggaagaagatgtagtaaagtCaaagaaaacattcagaagtc	10	4	2	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr13:36026253C>G	ENST00000400445.3	+	40	6863	c.6329C>G	c.(6328-6330)tCa>tGa	p.S2110*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.S2110*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.S2107*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.S2110*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2110					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTAGTAAAGTCAAAGAAAACA	0.338																																																	0													85	79	81					13																	36026253		1885	4112	5997	SO:0001587	stop_gained	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6329C>G	13.37:g.36026253C>G	ENSP00000383295:p.Ser2110*		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.S2110*	ENST00000400445.3	37	c.6329	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	50	16.865690	0.99874	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	.	.	.	5.45	5.45	0.79879	.	0.356490	0.29609	N	0.011664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.2813	0.94053	0.0:1.0:0.0:0.0	.	.	.	.	X	2110;2110;2107;2110;737	.	ENSP00000308534:S2110X	S	+	2	0	NBEA	34924253	0.993000	0.37304	0.942000	0.38095	0.925000	0.55904	2.979000	0.49313	2.542000	0.85734	0.655000	0.94253	TCA	NBEA	-	pfam_DUF1088		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		36026253	1	no_errors	ENST00000310336	ensembl	human	known	70_37	nonsense	SNP	0.966	G	G	36026253	C	G	36026253	4	3	176	1	0	0	0	0	0	1	0	0	10210	838	29	1	6487	1	NBEA	13	36026253	Nonsense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09		36026253	79143625	180	33298										
MCF2L	23263	genome.wustl.edu	37	chr13	113741698	113741698	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cacgagaaggcagtgctcttCtgcaagaagagggaggagaa	15	7	2	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr13:113741698C>G	ENST00000375608.3	+	23	2671	c.2613C>G	c.(2611-2613)ttC>ttG	p.F871L	MCF2L_ENST00000423482.2_Missense_Mutation_p.F839L|MCF2L_ENST00000375604.2_Missense_Mutation_p.F898L|MCF2L_ENST00000421756.1_Missense_Mutation_p.F845L|MCF2L_ENST00000375597.4_Missense_Mutation_p.F839L|MCF2L_ENST00000397030.1_Missense_Mutation_p.F874L|MCF2L_ENST00000375601.3_Missense_Mutation_p.F845L|MCF2L_ENST00000434480.2_Missense_Mutation_p.F847L|MCF2L_ENST00000535094.2_Missense_Mutation_p.F841L|MCF2L_ENST00000442652.2_Missense_Mutation_p.F871L			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	871	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGTGCTCTTCTGCAAGAAGA	0.582																																																	0													65	51	56					13																	113741698		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2613C>G	13.37:g.113741698C>G	ENSP00000364758:p.Phe871Leu		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.F898L	ENST00000375608.3	37	c.2694		13	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.66|19.66|19.66	3.869635|3.869635|3.869635	0.72065|0.72065|0.72065	.|.|.	.|.|.	ENSG00000126217|ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017|ENST00000413354;ENST00000261963	T;T;T;T;T;T;T;T;T;T|.|.	0.17854|.|.	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25|.|.	4.57|4.57|4.57	4.57|4.57|4.57	0.56435|0.56435|0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.|.	0.051524|.|.	0.85682|.|.	N|.|.	0.000000|.|.	T|T|T	0.75817|0.75817|0.75817	0.3901|0.3901|0.3901	M|M|M	0.75884|0.75884|0.75884	2.315|2.315|2.315	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0;0.999;0.999;1.0|.|.	T|T|T	0.77300|0.77300|0.77300	-0.2639|-0.2639|-0.2639	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	17.729|17.729|17.729	0.88372|0.88372|0.88372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	839;841;898;803;839;871|.|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.|.	.;.;.;.;.;MCF2L_HUMAN|.|.	L|V|C	871;871;898;874;841;845;845;847;839;839;682|502|71;12	ENSP00000364758:F871L;ENSP00000401422:F871L;ENSP00000364754:F898L;ENSP00000380225:F874L;ENSP00000440374:F841L;ENSP00000397285:F845L;ENSP00000364751:F845L;ENSP00000407722:F847L;ENSP00000405639:F839L;ENSP00000364747:F839L|.|.	ENSP00000364747:F839L|.|.	F|L|S	+|+|+	3|1|2	2|2|0	MCF2L|MCF2L|MCF2L	112789699|112789699|112789699	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.282000|0.282000|0.282000	0.26991|0.26991|0.26991	7.569000|7.569000|7.569000	0.82380|0.82380|0.82380	2.234000|2.234000|2.234000	0.73211|0.73211|0.73211	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTG|TCT	MCF2L	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.582	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	C			113741698	1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113741698	C	G	113741698	3	3	176	1	0	0	0	0	1	0	0	0	9402	912	32	1	2875	1	MCF2L	13	113741698	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	77715445	113741698	1428180	181	33299										
REC8	79711	genome.wustl.edu	37	chr14	24649099	24649099	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aggatggctgcccgggtcttCtacctgctcctgggtgagtg	15	11	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:24649099C>T	ENST00000354464.6	-	0	3646				REC8_ENST00000559939.1_3'UTR|REC8_ENST00000311457.3_Silent_p.F514F|REC8_ENST00000559919.1_Silent_p.F514F	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCCGGGTCTTCTACCTGCTCC	0.632																																																	0													52	57	55					14																	24649099		1995	4167	6162	SO:0001628	intergenic_variant	9985			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24649099C>T			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.F514	ENST00000354464.6	37	c.1542	CCDS9616.1	14																																																																																			REC8	-	pfam_Rad21/Rec8_C_eu		0.632	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000071931.4	C	NM_024658		24649099	1	no_errors	ENST00000311457	ensembl	human	known	70_37	silent	SNP	1.000	T	T	24649099	C	T	24649099	1	4	176	0	1	0	0	0	0	0	0	0	13229	912	32	1		1	REC8	14	24649099	IGR	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09		24649099	82700441	182	33300										
ADCY4	196883	genome.wustl.edu	37	chr14	24798648	24798648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggtaggctcccctagctcccGaaggtaggggtcccgatgct	14	13	0	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:24798648G>A	ENST00000310677.4	-	10	1422	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	ADCY4_ENST00000554068.2_Missense_Mutation_p.R437W|ADCY4_ENST00000396747.3_Missense_Mutation_p.R130W|ADCY4_ENST00000418030.2_Missense_Mutation_p.R437W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	437					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTAGCTCCCGAAGGTAGGGG	0.627																																																	0													66	67	67					14																	24798648		2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1309C>T	14.37:g.24798648G>A	ENSP00000312126:p.Arg437Trp		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R437W	ENST00000310677.4	37	c.1309	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910424	0.72983	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.80123	-1.15;-1.15;-1.15;-1.34	5.13	4.23	0.50019	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.41500	D	0.000861	D	0.84727	0.5536	L	0.57536	1.79	0.40001	D	0.975167	D	0.60160	0.987	P	0.61003	0.882	D	0.86157	0.1591	10	0.87932	D	0	.	10.5957	0.45336	0.0:0.0:0.6492:0.3508	.	437	Q8NFM4	ADCY4_HUMAN	W	437;437;437;130	ENSP00000312126:R437W;ENSP00000452250:R437W;ENSP00000393177:R437W;ENSP00000379971:R130W	ENSP00000312126:R437W	R	-	1	2	ADCY4	23868488	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.102000	0.50291	1.369000	0.46134	0.655000	0.94253	CGG	ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase		0.627	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24798648	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	missense	SNP	0.997	A	A	24798648	G	A	24798648	3	1	176	1	0	0	0	0	1	0	0	0	296	1057	37	1	1992	1	ADCY4	14	24798648	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	149549	24798648	82550892	183	33301										
NIN	51199	genome.wustl.edu	37	chr14	51223799	51223799	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aacattcagcccctcattttCtattttgacctcatcgtaac	3	13	4	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:51223799C>G	ENST00000382041.3	-	18	4139	c.3949G>C	c.(3949-3951)Gaa>Caa	p.E1317Q	NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.E1317Q|NIN_ENST00000245441.5_Missense_Mutation_p.E1317Q|NIN_ENST00000530997.2_Missense_Mutation_p.E1317Q|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.E1317Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1317					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCCTCATTTTCTATTTTGACC	0.468			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													104	105	105					14																	51223799		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3949G>C	14.37:g.51223799C>G	ENSP00000371472:p.Glu1317Gln		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.E1317Q	ENST00000382041.3	37	c.3949	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.871802|3.871802	0.72180|0.72180	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.09630|.	3.23;2.96;2.96;2.96|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.103517|.	0.64402|.	D|.	0.000005|.	T|T	0.64136|0.64136	0.2571|0.2571	M|M	0.67953|0.67953	2.075|2.075	0.30346|0.30346	N|N	0.785205|0.785205	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.997;0.994|.	T|T	0.64433|0.64433	-0.6409|-0.6409	10|5	0.18710|.	T|.	0.47|.	-17.0525|-17.0525	14.7953|14.7953	0.69873|0.69873	0.0:0.9295:0.0:0.0705|0.0:0.9295:0.0:0.0705	.|.	1323;1317;1317;1317|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	Q|T	1317;1300;1323;1317;1317;1317|807	ENSP00000245441:E1317Q;ENSP00000371472:E1317Q;ENSP00000324210:E1317Q;ENSP00000412391:E1317Q|.	ENSP00000245441:E1317Q|.	E|R	-|-	1|2	0|0	NIN|NIN	50293549|50293549	0.997000|0.997000	0.39634|0.39634	0.983000|0.983000	0.44433|0.44433	0.982000|0.982000	0.71751|0.71751	4.814000|4.814000	0.62627|0.62627	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAA|AGA	NIN	-	NULL		0.468	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	C	NM_182946		51223799	-1	no_errors	ENST00000245441	ensembl	human	known	70_37	missense	SNP	0.981	G	G	51223799	C	G	51223799	3	3	176	1	0	0	0	0	1	0	0	0	10441	922	32	1	2656	1	NIN	14	51223799	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	26425151	51223799	56125741	184	33302										
SYNE2	23224	genome.wustl.edu	37	chr14	64679634	64679634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccctggatgctgtgctgattGaggatgagctggaggaactc	15	8	0	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:64679634G>C	ENST00000344113.4	+	105	19179	c.18967G>C	c.(18967-18969)Gag>Cag	p.E6323Q	SYNE2_ENST00000394768.2_Missense_Mutation_p.E2708Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6282Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E106Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2957Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6323Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2708Q|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000555022.1_Missense_Mutation_p.E201Q|SYNE2_ENST00000441438.2_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6323					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTGCTGATTGAGGATGAGCT	0.547																																																	0													95	93	94					14																	64679634		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18967G>C	14.37:g.64679634G>C	ENSP00000341781:p.Glu6323Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E6323Q	ENST00000344113.4	37	c.18967	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936404	0.52972	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.34	5.34	0.76211	.	0.000000	0.50627	D	0.000120	T	0.56790	0.2009	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.989;1.0;0.986;1.0	D;P;D;D;D	0.87578	0.966;0.893;0.998;0.975;0.994	T	0.57871	-0.7736	10	0.66056	D	0.02	.	19.4171	0.94706	0.0:0.0:1.0:0.0	.	2708;711;6282;6323;6323	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	Q	6323;2708;6323;6282;6288;2957;2708;201;106	ENSP00000350719:E6323Q;ENSP00000349969:E2708Q;ENSP00000341781:E6323Q;ENSP00000452570:E6282Q;ENSP00000450831:E2957Q;ENSP00000378249:E2708Q;ENSP00000451009:E201Q;ENSP00000450605:E106Q	ENSP00000261678:E6288Q	E	+	1	0	SYNE2	63749387	1.000000	0.71417	0.687000	0.30102	0.742000	0.42306	9.607000	0.98328	2.655000	0.90218	0.462000	0.41574	GAG	SYNE2	-	smart_Spectrin/alpha-actinin		0.547	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64679634	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64679634	G	C	64679634	3	2	176	1	0	0	0	0	1	0	0	0	15476	1291	45	1	19381	1	SYNE2	14	64679634	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	13455835	64679634	42669906	185	33303										
SIPA1L1	26037	genome.wustl.edu	37	chr14	72090905	72090905	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagtgcctgcggttggccttCaacacacccaaggtcacaga	10	14	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:72090905C>T	ENST00000555818.1	+	4	2118	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	SIPA1L1_ENST00000381232.3_Silent_p.F590F|SIPA1L1_ENST00000537413.1_Silent_p.F65F|SIPA1L1_ENST00000358550.2_Silent_p.F590F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	590					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGTTGGCCTTCAACACACCCA	0.542																																																	0													156	129	138					14																	72090905		2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1770C>T	14.37:g.72090905C>T			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.F590	ENST00000555818.1	37	c.1770	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL		0.542	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	C	NM_015556		72090905	1	no_errors	ENST00000555818	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72090905	C	T	72090905	2	4	176	1	0	0	0	0	0	0	0	1	14359	825	29	1		1	SIPA1L1	14	72090905	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	7411271	72090905	35258635	186	33304										
SPATA7	55812	genome.wustl.edu	37	chr14	88892894	88892894	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	atcttttggataaacattctGaactcttttctaacaaacaa	3	8	4	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:88892894G>A	ENST00000393545.4	+	6	980	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	SPATA7_ENST00000556553.1_Missense_Mutation_p.E199K|SPATA7_ENST00000045347.7_Missense_Mutation_p.E231K|SPATA7_ENST00000356583.5_Missense_Mutation_p.E199K	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	231					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TAAACATTCTGAACTCTTTTC	0.423																																																	0													63	64	64					14																	88892894		2203	4300	6503	SO:0001583	missense	55812			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.691G>A	14.37:g.88892894G>A	ENSP00000377176:p.Glu231Lys		Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	NULL	p.E231K	ENST00000393545.4	37	c.691	CCDS9883.1	14	.	.	.	.	.	.	.	.	.	.	G	19.08	3.756941	0.69648	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000553885;ENST00000045347	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.34	5.34	0.76211	.	0.635010	0.16444	N	0.214187	T	0.38295	0.1035	M	0.64997	1.995	0.33482	D	0.587586	P;P;B	0.49559	0.925;0.827;0.01	P;P;B	0.52159	0.691;0.526;0.016	T	0.49872	-0.8893	10	0.66056	D	0.02	-4.8915	18.1813	0.89779	0.0:0.0:1.0:0.0	.	199;199;231	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	K	199;231;199;217;231	ENSP00000451128:E199K;ENSP00000377176:E231K;ENSP00000348991:E199K;ENSP00000450606:E217K;ENSP00000045347:E231K	ENSP00000045347:E231K	E	+	1	0	SPATA7	87962647	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.110000	0.50352	2.642000	0.89623	0.650000	0.86243	GAA	SPATA7	-	NULL		0.423	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA7	HGNC	protein_coding	OTTHUMT00000410172.1	G			88892894	1	no_errors	ENST00000393545	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88892894	G	A	88892894	3	1	176	1	0	0	0	0	1	0	0	0	15044	1291	45	1	713	1	SPATA7	14	88892894	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	16801989	88892894	18456646	187	33305										
RPAP1	26015	genome.wustl.edu	37	chr15	41819251	41819251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aactatagtctctatcagccGagggcactccaggacctatg	9	12	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:41819251G>A	ENST00000304330.4	-	14	1878	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.R588W	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	588						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCTATCAGCCGAGGGCACTCC	0.562																																																	0													63	63	63					15																	41819251		2203	4300	6503	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1762C>T	15.37:g.41819251G>A	ENSP00000306123:p.Arg588Trp		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.R588W	ENST00000304330.4	37	c.1762	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653780	0.47362	.	.	ENSG00000103932	ENST00000304330	T	0.75704	-0.96	5.1	1.9	0.25705	.	0.061443	0.64402	N	0.000004	T	0.67011	0.2848	M	0.83953	2.67	0.58432	D	0.99999	P	0.36535	0.557	B	0.26094	0.066	T	0.66308	-0.5956	10	0.87932	D	0	-13.2133	4.3532	0.11165	0.0762:0.1354:0.5094:0.279	.	588	Q9BWH6	RPAP1_HUMAN	W	588	ENSP00000306123:R588W	ENSP00000306123:R588W	R	-	1	2	RPAP1	39606543	1.000000	0.71417	0.972000	0.41901	0.889000	0.51656	4.305000	0.59110	0.624000	0.30286	0.563000	0.77884	CGG	RPAP1	-	NULL		0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	G	NM_015540		41819251	-1	no_errors	ENST00000304330	ensembl	human	known	70_37	missense	SNP	0.994	A	A	41819251	G	A	41819251	3	1	176	1	0	0	0	0	1	0	0	0	13571	1057	37	1	2467	1	RPAP1	15	41819251	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		41819251	60712141	188	33306										
PML	5371	genome.wustl.edu	37	chr15	74336918	74336918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acctggcgagaaacatgagcGagcgcagcgccatggctgcc	14	13	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:74336918G>A	ENST00000268058.3	+	9	2314	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	PML_ENST00000565898.1_Missense_Mutation_p.E692K	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	740					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAACATGAGCGAGCGCAGCGC	0.672			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													24	27	26					15																	74336918		2198	4296	6494	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2218G>A	15.37:g.74336918G>A	ENSP00000268058:p.Glu740Lys		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E740K	ENST00000268058.3	37	c.2218	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094240	0.36952	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.46063	0.88	5.18	4.27	0.50696	.	0.358030	0.23993	N	0.042553	T	0.28001	0.0690	L	0.27053	0.805	0.23168	N	0.998189	B;B	0.24132	0.032;0.098	B;B	0.17433	0.007;0.018	T	0.21827	-1.0234	10	0.72032	D	0.01	-8.7593	7.64	0.28288	0.1852:0.0:0.8148:0.0	.	740;692	P29590;P29590-11	PML_HUMAN;.	K	740;301;723	ENSP00000268058:E740K	ENSP00000268058:E740K	E	+	1	0	PML	72123971	0.211000	0.23529	0.010000	0.14722	0.658000	0.38924	2.415000	0.44635	1.412000	0.46977	0.563000	0.77884	GAG	PML	-	NULL		0.672	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	G	NM_002675		74336918	1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	0.025	A	A	74336918	G	A	74336918	3	1	176	1	0	0	0	0	1	0	0	0	12159	1059	37	1	3269	1	PML	15	74336918	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	32517667	74336918	28194474	189	33307										
ISLR2	57611	genome.wustl.edu	37	chr15	74425398	74425398	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctggccgtgctgagtcagctCaagaacctcgatctgagcca	11	13	3	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:74425398C>G	ENST00000361742.3	+	4	1072	c.303C>G	c.(301-303)ctC>ctG	p.L101L	ISLR2_ENST00000435464.1_Silent_p.L101L|ISLR2_ENST00000453268.2_Silent_p.L101L|ISLR2_ENST00000419208.1_Silent_p.L101L|ISLR2_ENST00000445793.1_Silent_p.L101L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.L101L|ISLR2_ENST00000565540.1_Silent_p.L101L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	101					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGAGTCAGCTCAAGAACCTCG	0.627																																																	0													70	64	66					15																	74425398		2198	4297	6495	SO:0001819	synonymous_variant	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.303C>G	15.37:g.74425398C>G			A8K352|Q9P263	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.L101	ENST00000361742.3	37	c.303	CCDS10259.1	15																																																																																			ISLR2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.627	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	C	NM_020851		74425398	1	no_errors	ENST00000361742	ensembl	human	known	70_37	silent	SNP	0.995	G	G	74425398	C	G	74425398	2	3	176	1	0	0	0	0	0	0	0	1	7879	813	29	1		1	ISLR2	15	74425398	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	88480	74425398	28105994	190	33308										
AGPHD1	123688	genome.wustl.edu	37	chr15	78825706	78825706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtggcaattaccatcatgtaCatgatgattgagagcaagag	11	6	1	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:78825706C>T	ENST00000569878.1	+	4	816	c.816C>T	c.(814-816)taC>taT	p.Y272Y	HYKK_ENST00000563233.1_Intron|HYKK_ENST00000388988.4_Silent_p.Y272Y|HYKK_ENST00000408962.2_Intron			A2RU49	HYKK_HUMAN	hydroxylysine kinase	272						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										CCATCATGTACATGATGATTG	0.448																																																	0													137	124	128					15																	78825706		1981	4163	6144	SO:0001819	synonymous_variant	123688			BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"5-hydroxylysine kinase"	614681	"aminoglycoside phosphotransferase domain containing 1"	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.816C>T	15.37:g.78825706C>T			B7ZMA5|F8W6X5|Q6ZTN0	Silent	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.Y272	ENST00000569878.1	37	c.816	CCDS42063.1	15																																																																																			AGPHD1	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.448	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	AGPHD1	HGNC	protein_coding	OTTHUMT00000435834.1	C	NM_001013619		78825706	1	no_errors	ENST00000388988	ensembl	human	known	70_37	silent	SNP	1.000	T	T	78825706	C	T	78825706	2	4	176	1	0	0	0	0	0	0	0	1	393	489	17	4		4	AGPHD1	15	78825706	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	4400308	78825706	23705686	191	33309										
AP3B2	8120	genome.wustl.edu	37	chr15	83331647	83331647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccggtgcagcagctcctgccGcccaacacccgatactggac	10	18	0	0	rs201234574		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:83331647G>A	ENST00000261722.3	-	22	2782	c.2575C>T	c.(2575-2577)Cgg>Tgg	p.R859W	AP3B2_ENST00000535359.1_Missense_Mutation_p.R878W|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R827W	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	859					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGCTCCTGCCGCCCAACACCC	0.617																																																	0													23	28	27					15																	83331647		2055	4190	6245	SO:0001583	missense	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2575C>T	15.37:g.83331647G>A	ENSP00000261722:p.Arg859Trp		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.R859W	ENST00000261722.3	37	c.2575	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143656	0.57044	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.56103	0.48;0.48;0.48	6.04	0.992	0.19819	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);	0.256580	0.41001	D	0.000976	T	0.59321	0.2185	L	0.38175	1.15	0.38189	D	0.939859	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.63597	0.916;0.649;0.649	T	0.60188	-0.7312	10	0.38643	T	0.18	-35.0635	16.8003	0.85612	0.0:0.0:0.6329:0.3671	.	827;878;859	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	W	859;827;878	ENSP00000261722:R859W;ENSP00000438721:R827W;ENSP00000440984:R878W	ENSP00000261722:R859W	R	-	1	2	AP3B2	81128702	1.000000	0.71417	0.031000	0.17742	0.685000	0.39939	1.523000	0.35932	-0.075000	0.12798	0.563000	0.77884	CGG	AP3B2	-	superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta		0.617	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	G			83331647	-1	no_errors	ENST00000261722	ensembl	human	known	70_37	missense	SNP	0.272	A	A	83331647	G	A	83331647	3	1	176	1	0	0	0	0	1	0	0	0	745	1086	38	2	693	2	AP3B2	15	83331647	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	4505941	83331647	19199745	192	33310										
IGF1R	3480	genome.wustl.edu	37	chr15	99467897	99467897	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tggacagatcctgtgttcttCtatgtccaggccaaaagtaa	9	9	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:99467897C>T	ENST00000268035.6	+	13	3377	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	IGF1R_ENST00000558762.1_Silent_p.F922F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	922	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CTGTGTTCTTCTATGTCCAGG	0.547																																																	0													109	92	98					15																	99467897		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2766C>T	15.37:g.99467897C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.F922	ENST00000268035.6	37	c.2766	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99467897	1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	1.000	T	T	99467897	C	T	99467897	2	4	176	1	0	0	0	0	0	0	0	1	7591	912	32	1		1	IGF1R	15	99467897	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	16136250	99467897	3063495	193	33311										
LINS1	55180	genome.wustl.edu	37	chr15	101109673	101109673	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	atcaaattctttcagaaccaGaggccttgatggaggctcaa	9	9	4	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:101109673G>C	ENST00000314742.8	-	7	2266	c.2044C>G	c.(2044-2046)Ctg>Gtg	p.L682V	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	682										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTCAGAACCAGAGGCCTTGAT	0.418																																																	0													84	86	86					15																	101109673		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.2044C>G	15.37:g.101109673G>C	ENSP00000318423:p.Leu682Val		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.L682V	ENST00000314742.8	37	c.2044	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988965	0.35131	.	.	ENSG00000140471	ENST00000314742	T	0.12879	2.64	5.41	1.21	0.21127	.	0.621539	0.15017	N	0.285195	T	0.11495	0.0280	L	0.36672	1.1	0.09310	N	1	B	0.27997	0.197	B	0.28465	0.09	T	0.20207	-1.0282	10	0.59425	D	0.04	-0.1488	9.9804	0.41811	0.0719:0.3954:0.5327:0.0	.	682	Q8NG48	LINES_HUMAN	V	682	ENSP00000318423:L682V	ENSP00000318423:L682V	L	-	1	2	LINS	98927196	0.022000	0.18835	0.002000	0.10522	0.265000	0.26407	0.881000	0.28173	-0.031000	0.13781	0.591000	0.81541	CTG	LINS	-	NULL		0.418	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	G	NM_018148		101109673	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.003	C	C	101109673	G	C	101109673	3	2	176	1	0	0	0	0	1	0	0	0	8839	933	33	1	233	1	LINS1	15	101109673	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1641776	101109673	1421719	194	33312										
C16orf42	84572	genome.wustl.edu	37	chr16	1400941	1400941	+	5'Flank	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cgcatcttcccaaacggtgtCtcgtccagcctggcccagga	10	16	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:1400941C>A	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Missense_Mutation_p.E131D	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				CAAACGGTGTCTCGTCCAGCC	0.637																																																	0													69	65	67					16																	1400941		2196	4300	6496	SO:0001631	upstream_gene_variant	115939			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1400941C>A	Exception_encountered		B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom	p.E131D	ENST00000204679.4	37	c.393	CCDS10436.1	16	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823603	0.32237	.	.	ENSG00000007520	ENST00000007390	.	.	.	5.47	2.29	0.28610	Domain of unknown function DUF367 (2);	0.141337	0.64402	N	0.000006	T	0.51126	0.1656	L	0.46670	1.46	0.44652	D	0.997637	B	0.24368	0.102	B	0.37304	0.246	T	0.44651	-0.9314	9	0.41790	T	0.15	-22.2399	6.237	0.20768	0.0:0.5506:0.2926:0.1568	.	131	Q9UJK0	TSR3_HUMAN	D	131	.	ENSP00000007390:E131D	E	-	3	2	C16orf42	1340942	0.832000	0.29368	0.728000	0.30774	0.203000	0.24098	-0.046000	0.11983	0.611000	0.30052	0.561000	0.74099	GAG	TSR3	-	pfam_DUF367		0.637	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR3	HGNC	protein_coding	OTTHUMT00000109058.2	C	NM_032520		1400941	-1	no_errors	ENST00000007390	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1400941	C	A	1400941	1	1	176	0	1	0	0	0	0	0	0	0	1817	912	32	3		3	C16orf42	16	1400941	5'Flank	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09		1400941	88953812	195	33313										
PTX4	390667	genome.wustl.edu	37	chr16	1536493	1536493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agctgcagaaggacagggctCgcagggcagtgacgaaacca	15	10	0	2	rs143075390		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:1536493C>T	ENST00000447419.2	-	3	909	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	PTX4_ENST00000440447.2_Missense_Mutation_p.E147K|PTX4_ENST00000293922.1_Missense_Mutation_p.R290Q			Q96A99	PTX4_HUMAN	pentraxin 4, long	295	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGACAGGGCTCGCAGGGCAGT	0.642																																																	0								C	GLN/ARG	1,4397	2.1+/-5.4	0,1,2198	59	64	62		869	3.6	0.7	16	dbSNP_134	62	0,8600		0,0,4300	no	missense	PTX4	NM_001013658.1	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	290/474	1536493	1,12997	2199	4300	6499	SO:0001583	missense	390667				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.884G>A	16.37:g.1536493C>T	ENSP00000445277:p.Arg295Gln			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.R295Q	ENST00000447419.2	37	c.884		16	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366397	0.24771	2.27E-4	0.0	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05447	3.44;3.44	5.58	3.64	0.41730	.	0.279071	0.30723	N	0.009006	T	0.04048	0.0113	L	0.31804	0.96	0.31977	N	0.606332	P	0.42993	0.797	B	0.33620	0.167	T	0.31696	-0.9934	10	0.32370	T	0.25	.	7.9689	0.30115	0.0:0.7492:0.0:0.2508	.	290	Q96A99-2	.	Q	295;290	ENSP00000445277:R295Q;ENSP00000293922:R290Q	ENSP00000293922:R290Q	R	-	2	0	PTX4	1476494	0.080000	0.21391	0.726000	0.30738	0.022000	0.10575	-0.231000	0.09069	0.734000	0.32515	-0.136000	0.14681	CGA	PTX4	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.642	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	C	NM_001013658		1536493	-1	no_errors	ENST00000447419	ensembl	human	known	70_37	missense	SNP	0.888	T	T	1536493	C	T	1536493	3	4	176	1	0	0	0	0	1	0	0	0	12853	884	31	1	555	1	PTX4	16	1536493	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	135552	1536493	88818260	196	33314										
MEFV	4210	genome.wustl.edu	37	chr16	3298943	3298943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccttctcctccccataggatCgctgctcctcccctgatttt	5	18	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:3298943C>T	ENST00000219596.1	-	4	1361	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	MEFV_ENST00000339854.4_Missense_Mutation_p.R261Q|MEFV_ENST00000536379.1_Missense_Mutation_p.R230Q|MEFV_ENST00000541159.1_Missense_Mutation_p.R230Q	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	441	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCCATAGGATCGCTGCTCCTC	0.517																																																	0													201	172	182					16																	3298943		2197	4300	6497	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1322G>A	16.37:g.3298943C>T	ENSP00000219596:p.Arg441Gln		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.R441Q	ENST00000219596.1	37	c.1322	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419212	0.42918	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.65732	-0.17;0.25;0.26;0.27	5.5	2.22	0.28083	.	0.481200	0.18825	N	0.130152	T	0.48857	0.1523	L	0.45228	1.405	0.22648	N	0.998894	D	0.58970	0.984	P	0.44860	0.462	T	0.41270	-0.9518	10	0.38643	T	0.18	-15.3933	2.3967	0.04392	0.2259:0.4386:0.0:0.3355	.	441	O15553	MEFV_HUMAN	Q	441;441;261;230;230;230	ENSP00000219596:R441Q;ENSP00000339639:R261Q;ENSP00000438711:R230Q;ENSP00000445079:R230Q	ENSP00000219596:R441Q	R	-	2	0	MEFV	3238944	0.327000	0.24678	0.243000	0.24186	0.013000	0.08279	0.639000	0.24690	0.296000	0.22592	-0.311000	0.09066	CGA	MEFV	-	NULL		0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	C	NM_000243		3298943	-1	no_errors	ENST00000219596	ensembl	human	known	70_37	missense	SNP	0.394	T	T	3298943	C	T	3298943	3	4	176	1	0	0	0	0	1	0	0	0	9482	884	31	1	1051	1	MEFV	16	3298943	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1762450	3298943	87055810	197	33315										
CREBBP	1387	genome.wustl.edu	37	chr16	3900710	3900710	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtttaggcaggctgggggctGaagaatctccctggctcaga	15	9	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:3900710G>T	ENST00000262367.5	-	2	1195	c.386C>A	c.(385-387)tCa>tAa	p.S129*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S129*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	129					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGGGGCTGAAGAATCTCC	0.647			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													42	43	43					16																	3900710		2197	4300	6497	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.386C>A	16.37:g.3900710G>T	ENSP00000262367:p.Ser129*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S129*	ENST00000262367.5	37	c.386	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	45	11.384969	0.99554	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.73	4.77	0.60923	.	0.496860	0.20213	N	0.096860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7213	15.3598	0.74464	0.0:0.0:0.8599:0.1401	.	.	.	.	X	129;197;129	.	ENSP00000262367:S129X	S	-	2	0	CREBBP	3840711	1.000000	0.71417	0.902000	0.35471	0.982000	0.71751	5.844000	0.69430	1.393000	0.46605	0.555000	0.69702	TCA	CREBBP	-	NULL		0.647	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900710	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	3900710	G	T	3900710	4	4	176	1	0	0	0	0	0	1	0	0	3866	1294	45	3	7062	3	CREBBP	16	3900710	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	601767	3900710	86454043	198	33316										
SMG1	23049	genome.wustl.edu	37	chr16	18841282	18841282	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gaaaaggtaccacagagcctGaagaactccttaatagtctg	9	9	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:18841282G>A	ENST00000446231.2	-	53	9511	c.9099C>T	c.(9097-9099)ttC>ttT	p.F3033F	SMG1_ENST00000389467.3_Silent_p.F3033F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3033					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACAGAGCCTGAAGAACTCCT	0.383																																																	0													39	34	36					16																	18841282		1821	4081	5902	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9099C>T	16.37:g.18841282G>A			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.F3033	ENST00000446231.2	37	c.9099	CCDS45430.1	16																																																																																			SMG1	-	NULL		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18841282	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18841282	G	A	18841282	2	1	176	1	0	0	0	0	0	0	0	1	14825	1281	45	1		1	SMG1	16	18841282	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	14940572	18841282	71513471	199	33317										
ACSM1	116285	genome.wustl.edu	37	chr16	20682933	20682933	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cctgtggtcccactggtgaaGaagatgaccattgggtccaa	12	10	0	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:20682933G>A	ENST00000307493.4	-	4	739	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ACSM1_ENST00000520010.1_Silent_p.F224F|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	224					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACTGGTGAAGAAGATGACCA	0.502																																																	0													132	110	117					16																	20682933		2201	4300	6501	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.672C>T	16.37:g.20682933G>A			Q08AH2|Q96A20	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.F224	ENST00000307493.4	37	c.672	CCDS10587.1	16																																																																																			ACSM1	-	pfam_AMP-dep_Synth/Lig		0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1	G	NM_052956		20682933	-1	no_errors	ENST00000307493	ensembl	human	known	70_37	silent	SNP	1.000	A	A	20682933	G	A	20682933	2	1	176	1	0	0	0	0	0	0	0	1	182	933	33	1		1	ACSM1	16	20682933	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1841651	20682933	69671820	200	33318										
LPCAT2	54947	genome.wustl.edu	37	chr16	55563840	55563840	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aataataaagcgaacaacatCaggaggagaatggccccagg	11	8	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:55563840C>A	ENST00000262134.5	+	4	807	c.623C>A	c.(622-624)tCa>tAa	p.S208*		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	208					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CGAACAACATCAGGAGGAGAA	0.378																																																	0													48	47	47					16																	55563840		2198	4300	6498	SO:0001587	stop_gained	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.623C>A	16.37:g.55563840C>A	ENSP00000262134:p.Ser208*		A3KBM1|Q6MZJ6|Q9NX23	Nonsense_Mutation	SNP	pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.S208*	ENST00000262134.5	37	c.623	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.253015	0.95336	.	.	ENSG00000087253	ENST00000262134	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.1108	19.3057	0.94161	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	ENSP00000262134:S208X	S	+	2	0	LPCAT2	54121341	1.000000	0.71417	0.808000	0.32385	0.745000	0.42441	6.776000	0.75023	2.644000	0.89710	0.650000	0.86243	TCA	LPCAT2	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.378	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	C	NM_017839		55563840	1	no_errors	ENST00000262134	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55563840	C	A	55563840	4	1	176	1	0	0	0	0	0	1	0	0	8934	838	29	3	637	3	LPCAT2	16	55563840	Nonsense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	34880907	55563840	34790913	201	33319										
OGFOD1	55239	genome.wustl.edu	37	chr16	56485629	56485629	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gctgttacggaagaaaccttGaaaaagcaggtggctgaggc	14	7	0	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:56485629G>C	ENST00000566157.1	+	1	228	c.105G>C	c.(103-105)ttG>ttC	p.L35F	OGFOD1_ENST00000568397.1_Missense_Mutation_p.L35F|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	35					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AAGAAACCTTGAAAAAGCAGG	0.627																																																	0													48	53	51					16																	56485629		2198	4300	6498	SO:0001583	missense	55239			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.105G>C	16.37:g.56485629G>C	ENSP00000457258:p.Leu35Phe		H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph	p.L35F	ENST00000566157.1	37	c.105	CCDS10761.2	16	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939900	0.52972	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.8	4.86	0.63082	.	0.432415	0.23167	N	0.051173	T	0.35248	0.0925	N	0.13098	0.295	0.40599	D	0.981561	B	0.14012	0.009	B	0.12156	0.007	T	0.21245	-1.0251	9	0.02654	T	1	-21.2699	12.1422	0.54005	0.0799:0.0:0.9201:0.0	.	35	Q8N543	OGFD1_HUMAN	F	35	.	ENSP00000337196:L35F	L	+	3	2	OGFOD1	55043130	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.463000	0.53050	1.480000	0.48289	0.563000	0.77884	TTG	OGFOD1	-	NULL		0.627	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3	G	NM_018233		56485629	1	no_errors	ENST00000566157	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56485629	G	C	56485629	3	2	176	1	0	0	0	0	1	0	0	0	10865	1281	45	1	107	1	OGFOD1	16	56485629	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	921789	56485629	33869124	202	33320										
NFAT5	10725	genome.wustl.edu	37	chr16	69724847	69724847	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtgtgtgtatatgcagcaatGaaaactactggatgtaattt	10	4	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:69724847G>A	ENST00000354436.2	+	11	2043	c.1725G>A	c.(1723-1725)atG>atA	p.M575I	NFAT5_ENST00000432919.1_Missense_Mutation_p.M593I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M499I|NFAT5_ENST00000349945.1_Missense_Mutation_p.M499I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M499I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M592I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	575					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGCAGCAATGAAAACTACTG	0.303																																																	0													97	101	100					16																	69724847		2198	4299	6497	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1725G>A	16.37:g.69724847G>A	ENSP00000346420:p.Met575Ile		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.M593I	ENST00000354436.2	37	c.1779	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960269	0.34565	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.40756	1.02;1.03;1.02;1.03	5.69	3.7	0.42460	Immunoglobulin E-set (1);	0.324487	0.39146	N	0.001458	T	0.29976	0.0750	L	0.43152	1.355	0.35509	D	0.800498	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23940	-1.0174	10	0.18710	T	0.47	-2.6247	7.008	0.24848	0.1413:0.0:0.7174:0.1413	.	592;575;593	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	593;592;499;575;499	ENSP00000396538:M593I;ENSP00000338806:M499I;ENSP00000346420:M575I;ENSP00000377343:M499I	ENSP00000338806:M499I	M	+	3	0	NFAT5	68282348	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	2.089000	0.41672	0.735000	0.32537	0.655000	0.94253	ATG	NFAT5	-	superfamily_Ig_E-set		0.303	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	G	NM_138714		69724847	1	no_errors	ENST00000432919	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69724847	G	A	69724847	3	1	176	1	0	0	0	0	1	0	0	0	10384	1290	45	1	1825	1	NFAT5	16	69724847	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	13239218	69724847	20629906	203	33321										
HP	3240	genome.wustl.edu	37	chr16	72090480	72090480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acatggctatgtggagcactCggttcgctaccagtgtaaga	12	9	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:72090480C>T	ENST00000355906.5	+	3	198	c.140C>T	c.(139-141)tCg>tTg	p.S47L	HP_ENST00000569639.1_Intron|HP_ENST00000357763.4_Missense_Mutation_p.S47L|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.S47L|HP_ENST00000570083.1_Intron|HP_ENST00000565574.1_Missense_Mutation_p.S47L|HP_ENST00000562526.1_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	47	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		Missing (in allele HP*1F and allele HP*1S). {ECO:0000269|PubMed:6330675, ECO:0000269|PubMed:6546723}.		acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGGAGCACTCGGTTCGCTAC	0.507																																																	0													5	5	5					16																	72090480		1714	3873	5587	SO:0001583	missense	3240				CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.140C>T	16.37:g.72090480C>T	ENSP00000348170:p.Ser47Leu		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S47L	ENST00000355906.5	37	c.140	CCDS45524.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.541|3.541	-0.093683|-0.093683	0.07053|0.07053	.|.	.|.	ENSG00000257017|ENSG00000257017	ENST00000405951|ENST00000355906;ENST00000398131;ENST00000357763	.|T;T	.|0.48522	.|0.81;0.81	4.84|4.84	-9.69|-9.69	0.00524|0.00524	.|Complement control module (2);Sushi/SCR/CCP (2);	.|.	.|.	.|.	.|.	T|T	0.26304|0.26304	0.0642|0.0642	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.47548|0.47548	-0.9109|-0.9109	6|9	0.87932|0.02654	D|T	0|1	.|.	15.5347|15.5347	0.75993|0.75993	0.1076:0.7369:0.0:0.1555|0.1076:0.7369:0.0:0.1555	.|.	.|47;47	.|Q0VAC5;P00738	.|.;HPT_HUMAN	W|L	24|47;47;82	.|ENSP00000348170:S47L;ENSP00000381199:S47L	ENSP00000386047:R24W|ENSP00000348170:S47L	R|S	+|+	1|2	2|0	HP|HP	70647981|70647981	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	-2.790000|-2.790000	0.00767|0.00767	-2.314000|-2.314000	0.00647|0.00647	-1.106000|-1.106000	0.02097|0.02097	CGG|TCG	HP	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.507	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HP	HGNC	protein_coding	OTTHUMT00000421680.1	C	NM_005143		72090480	1	no_errors	ENST00000355906	ensembl	human	known	70_37	missense	SNP	0.000	T	T	72090480	C	T	72090480	3	4	176	1	0	0	0	0	1	0	0	0	7347	893	31	1	150	1	HP	16	72090480	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2365633	72090480	18264273	204	33322										
ZC3H18	124245	genome.wustl.edu	37	chr16	88694357	88694357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agaaagaagacggtgttaaaGaggaaaagcggaaaagggat	15	2	0	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:88694357G>A	ENST00000301011.5	+	15	2499	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E791K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	767						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTGTTAAAGAGGAAAAGCG	0.522																																					Ovarian(121;375 2276 20373 38669)												0													61	73	69					16																	88694357		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2299G>A	16.37:g.88694357G>A	ENSP00000301011:p.Glu767Lys		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E767K	ENST00000301011.5	37	c.2299	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774896	0.90108	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.35789	1.33;1.29	4.88	4.88	0.63580	.	0.108055	0.64402	D	0.000007	T	0.51873	0.1700	L	0.45581	1.43	0.54753	D	0.999986	D;D	0.71674	0.998;0.998	D;D	0.66084	0.941;0.941	T	0.44329	-0.9335	10	0.31617	T	0.26	-15.1247	18.0337	0.89292	0.0:0.0:1.0:0.0	.	791;767	E7ERS3;Q86VM9	.;ZCH18_HUMAN	K	767;791	ENSP00000301011:E767K;ENSP00000416951:E791K	ENSP00000301011:E767K	E	+	1	0	ZC3H18	87221858	1.000000	0.71417	0.347000	0.25668	0.754000	0.42855	8.044000	0.89434	2.263000	0.75096	0.491000	0.48974	GAG	ZC3H18	-	NULL		0.522	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	G	NM_144604		88694357	1	no_errors	ENST00000301011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88694357	G	A	88694357	3	1	176	1	0	0	0	0	1	0	0	0	17598	943	33	1	2353	1	ZC3H18	16	88694357	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	16603877	88694357	1660396	205	33323										
MVD	4597	genome.wustl.edu	37	chr16	88723974	88723974	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcccgtgagttcctccgcttCcgggccaggcagcggactgc	13	16	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:88723974C>T	ENST00000301012.3	-	4	302	c.273G>A	c.(271-273)cgG>cgA	p.R91R	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	91					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCTCCGCTTCCGGGCCAGGC	0.692																																																	0													40	37	38					16																	88723974		2198	4300	6498	SO:0001819	synonymous_variant	4597			U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.273G>A	16.37:g.88723974C>T			Q53Y65	Silent	SNP	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb	p.R91	ENST00000301012.3	37	c.273	CCDS10968.1	16																																																																																			MVD	-	superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb		0.692	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVD	HGNC	protein_coding	OTTHUMT00000269547.2	C	NM_002461		88723974	-1	no_errors	ENST00000301012	ensembl	human	known	70_37	silent	SNP	0.278	T	T	88723974	C	T	88723974	2	4	176	1	0	0	0	0	0	0	0	1	10017	842	30	1		1	MVD	16	88723974	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	29617	88723974	1630779	206	33324										
CBFA2T3	863	genome.wustl.edu	37	chr16	88968057	88968057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gaggccttagctttcctgtcCactggggctgcgaccaacgg	13	13	0	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:88968057C>T	ENST00000268679.4	-	2	555	c.159G>A	c.(157-159)gtG>gtA	p.V53V	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Silent_p.V53V|CBFA2T3_ENST00000327483.5_5'UTR|CBFA2T3_ENST00000360302.2_5'UTR	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	53	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CTTTCCTGTCCACTGGGGCTG	0.677			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0													32	35	34					16																	88968057		2197	4299	6496	SO:0001819	synonymous_variant	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.159G>A	16.37:g.88968057C>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.V53	ENST00000268679.4	37	c.159	CCDS10972.1	16																																																																																			CBFA2T3	-	NULL		0.677	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	C	NM_005187		88968057	-1	no_errors	ENST00000268679	ensembl	human	known	70_37	silent	SNP	0.000	T	T	88968057	C	T	88968057	2	4	176	1	0	0	0	0	0	0	0	1	2703	581	21	4		4	CBFA2T3	16	88968057	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	244083	88968057	1386696	207	33325										
WDR81	124997	genome.wustl.edu	37	chr17	1629218	1629218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggaggcccctgtggcaagggAtgaggcgggcattgtgtctc	18	9	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:1629218A>G	ENST00000409644.1	+	1	965	c.965A>G	c.(964-966)gAt>gGt	p.D322G	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	322					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGCAAGGGATGAGGCGGGC	0.612																																																	0													59	56	57					17																	1629218		692	1591	2283	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.965A>G	17.37:g.1629218A>G	ENSP00000386609:p.Asp322Gly		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D322G	ENST00000409644.1	37	c.965	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572811	0.28092	.	.	ENSG00000167716	ENST00000409644	T	0.51325	0.71	5.93	-4.21	0.03812	.	.	.	.	.	T	0.32941	0.0846	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36432	-0.9748	6	0.22706	T	0.39	.	9.2521	0.37562	0.332:0.4979:0.1701:0.0	.	.	.	.	G	322	ENSP00000386609:D322G	ENSP00000386609:D322G	D	+	2	0	WDR81	1575968	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.554000	0.23407	-0.718000	0.04949	-0.400000	0.06385	GAT	WDR81	-	NULL		0.612	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	A	NM_152348		1629218	1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	0.000	G	G	1629218	A	G	1629218	3	3	176	1	0	0	0	0	1	0	0	0	17361	333	12	5	1029	5	WDR81	17	1629218	Missense_Mutation	SNP	A	TCGA-MY-A5BD-01A-11D-A26G-09		1629218	79565992	208	33326										
MYH4	4622	genome.wustl.edu	37	chr17	10364245	10364245	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggtggtaccttccgtgccatCtggctctgcctgctcttccc	10	16	3	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:10364245C>T	ENST00000255381.2	-	12	1245	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	379	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCGTGCCATCTGGCTCTGCC	0.478																																																	0													189	165	173					17																	10364245		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1135G>A	17.37:g.10364245C>T	ENSP00000255381:p.Asp379Asn			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D379N	ENST00000255381.2	37	c.1135	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.502757	0.96371	.	.	ENSG00000141048	ENST00000255381	D	0.87650	-2.28	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.38605	U	0.001638	D	0.94275	0.8161	M	0.88775	2.98	0.80722	D	1	P	0.42078	0.77	P	0.57502	0.822	D	0.94529	0.7734	10	0.87932	D	0	.	19.7262	0.96165	0.0:1.0:0.0:0.0	.	379	Q9Y623	MYH4_HUMAN	N	379	ENSP00000255381:D379N	ENSP00000255381:D379N	D	-	1	0	MYH4	10304970	1.000000	0.71417	0.969000	0.41365	0.882000	0.50991	7.770000	0.85390	2.726000	0.93360	0.650000	0.86243	GAT	MYH4	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10364245	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10364245	C	T	10364245	3	4	176	1	0	0	0	0	1	0	0	0	10060	913	32	1	4800	1	MYH4	17	10364245	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	8735027	10364245	70830965	209	33327										
ALKBH5	54890	genome.wustl.edu	37	chr17	18098344	18098344	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cgccgagcagtcatcatcctCaggaagtaagtgccttgatg	11	11	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:18098344C>T	ENST00000399138.4	+	2	851	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	282					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					TCATCATCCTCAGGAAGTAAG	0.498																																					Ovarian(166;154 1953 40235 46283 46309)												0													108	101	103					17																	18098344		2062	4209	6271	SO:0001819	synonymous_variant	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.846C>T	17.37:g.18098344C>T			B4DVJ4|D3DXC6|Q9NXD6	Silent	SNP	NULL	p.L282	ENST00000399138.4	37	c.846	CCDS42272.1	17																																																																																			ALKBH5	-	NULL		0.498	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	C	NM_017758		18098344	1	no_errors	ENST00000399138	ensembl	human	known	70_37	silent	SNP	0.986	T	T	18098344	C	T	18098344	2	4	176	1	0	0	0	0	0	0	0	1	530	813	29	1		1	ALKBH5	17	18098344	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	7734099	18098344	63096866	210	33328										
ZNF286B	729288	genome.wustl.edu	37	chr17	18565375	18565375	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agttctctgatgttgaataaGagctgatgaatgaatgaagg	12	3	1	7			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:18565375G>A	ENST00000545289.1	-	5	1694	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						TGTTGAATAAGAGCTGATGAA	0.388																																																	0													165	153	156					17																	18565375		692	1591	2283	SO:0001583	missense	729288				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1444C>T	17.37:g.18565375G>A	ENSP00000461413:p.Leu482Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L482F	ENST00000545289.1	37	c.1444	CCDS58523.1	17																																																																																			ZNF286B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286B	HGNC	protein_coding		G	XM_001723047		18565375	-1	no_errors	ENST00000545289	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18565375	G	A	18565375	3	1	176	1	0	0	0	0	1	0	0	0	17854	942	33	1	128	1	ZNF286B	17	18565375	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	467031	18565375	62629835	211	33329										
AKAP10	11216	genome.wustl.edu	37	chr17	19835207	19835207	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagcgacacgttcccgcccaGaaattcatctcctcgaaccg	7	17	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:19835207G>T	ENST00000225737.6	-	10	1709	c.1552C>A	c.(1552-1554)Ctg>Atg	p.L518M	RP11-209D14.4_ENST00000583067.1_RNA|AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	518					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TTCCCGCCCAGAAATTCATCT	0.468																																																	0													79	79	79					17																	19835207		2203	4300	6503	SO:0001583	missense	11216			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1552C>A	17.37:g.19835207G>T	ENSP00000225737:p.Leu518Met		B2R650|Q96AJ7	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.L518M	ENST00000225737.6	37	c.1552	CCDS11214.1	17	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252235	0.22880	.	.	ENSG00000108599	ENST00000225737	T	0.33654	1.4	5.78	4.76	0.60689	.	0.565214	0.16704	N	0.202997	T	0.31389	0.0795	L	0.36672	1.1	0.29303	N	0.868588	B	0.12013	0.005	B	0.04013	0.001	T	0.12344	-1.0551	10	0.44086	T	0.13	0.0462	15.501	0.75698	0.0:0.1383:0.8617:0.0	.	518	O43572	AKA10_HUMAN	M	518	ENSP00000225737:L518M	ENSP00000225737:L518M	L	-	1	2	AKAP10	19775799	1.000000	0.71417	0.982000	0.44146	0.530000	0.34684	1.944000	0.40263	2.761000	0.94854	0.644000	0.83932	CTG	AKAP10	-	NULL		0.468	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP10	HGNC	protein_coding	OTTHUMT00000132380.2	G	NM_007202		19835207	-1	no_errors	ENST00000225737	ensembl	human	known	70_37	missense	SNP	0.994	T	T	19835207	G	T	19835207	3	4	176	1	0	0	0	0	1	0	0	0	446	933	33	3	460	3	AKAP10	17	19835207	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1269832	19835207	61360003	212	33330										
TLCD1	116238	genome.wustl.edu	37	chr17	27051702	27051702	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	taacgcaagaagaaatgggtGaggtaggcctgaggggccag	17	6	0	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:27051702G>A	ENST00000292090.3	-	4	680	c.570C>T	c.(568-570)ctC>ctT	p.L190L	AC010761.14_ENST00000587898.1_RNA|TLCD1_ENST00000394933.3_Silent_p.L143L|SNORD4A_ENST00000459174.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA|SNORD4B_ENST00000459083.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	190	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGAAATGGGTGAGGTAGGCCT	0.502																																																	0													124	99	108					17																	27051702		2203	4300	6503	SO:0001819	synonymous_variant	116238			BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.570C>T	17.37:g.27051702G>A			A8MYP9	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.L190	ENST00000292090.3	37	c.570	CCDS11242.1	17																																																																																			TLCD1	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom		0.502	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLCD1	HGNC	protein_coding	OTTHUMT00000255973.1	G	NM_138463		27051702	-1	no_errors	ENST00000292090	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27051702	G	A	27051702	2	1	176	1	0	0	0	0	0	0	0	1	15967	1277	45	1		1	TLCD1	17	27051702	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	7216495	27051702	54143508	213	33331										
MYO18A	399687	genome.wustl.edu	37	chr17	27438756	27438756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctaccttttttgtcaccttcCtgggggccataataggagaa	9	10	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:27438756C>T	ENST00000527372.1	-	16	2904	c.2724G>A	c.(2722-2724)caG>caA	p.Q908Q	MYO18A_ENST00000531253.1_Silent_p.Q908Q|MYO18A_ENST00000533112.1_Silent_p.Q908Q|MYO18A_ENST00000354329.4_Silent_p.Q908Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	908	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGTCACCTTCCTGGGGGCCAT	0.612											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)												0													46	51	49					17																	27438756		1898	4116	6014	SO:0001819	synonymous_variant	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2724G>A	17.37:g.27438756C>T		794	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.Q908	ENST00000527372.1	37	c.2724	CCDS45642.1	17																																																																																			MYO18A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	C	NM_078471		27438756	-1	no_errors	ENST00000354329	ensembl	human	known	70_37	silent	SNP	1.000	T	T	27438756	C	T	27438756	2	4	176	1	0	0	0	0	0	0	0	1	10088	680	24	4		4	MYO18A	17	27438756	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	387054	27438756	53756454	214	33332										
KRT24	192666	genome.wustl.edu	37	chr17	38857427	38857427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cctcaggtaggctagctcctCggtgaaactctcaatctgca	9	13	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:38857427C>T	ENST00000264651.2	-	3	876	c.820G>A	c.(820-822)Gag>Aag	p.E274K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	274	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GCTAGCTCCTCGGTGAAACTC	0.498																																					GBM(61;380 1051 14702 23642 31441)												0													137	120	126					17																	38857427		2203	4300	6503	SO:0001583	missense	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.820G>A	17.37:g.38857427C>T	ENSP00000264651:p.Glu274Lys		Q9NXG7	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E274K	ENST00000264651.2	37	c.820	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659567	0.88154	.	.	ENSG00000167916	ENST00000264651	D	0.92149	-2.98	5.82	5.82	0.92795	Prefoldin (1);Filament (1);	.	.	.	.	D	0.96349	0.8809	M	0.79805	2.47	0.58432	D	0.999998	D	0.89917	1.0	D	0.73380	0.98	D	0.96251	0.9183	9	0.87932	D	0	.	20.1734	0.98165	0.0:1.0:0.0:0.0	.	274	Q2M2I5	K1C24_HUMAN	K	274	ENSP00000264651:E274K	ENSP00000264651:E274K	E	-	1	0	KRT24	36110953	1.000000	0.71417	0.979000	0.43373	0.338000	0.28826	4.977000	0.63792	2.767000	0.95098	0.558000	0.71614	GAG	KRT24	-	pfam_F,superfamily_Prefoldin		0.498	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	C	NM_019016		38857427	-1	no_errors	ENST00000264651	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38857427	C	T	38857427	3	4	176	1	0	0	0	0	1	0	0	0	8481	893	31	1	781	1	KRT24	17	38857427	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	11418671	38857427	42337783	215	33333										
EPX	8288	genome.wustl.edu	37	chr17	56270823	56270823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagccaccaggacagttgttCgggccgcagattatatgcat	11	11	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:56270823C>T	ENST00000225371.5	+	3	372	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	88					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GACAGTTGTTCGGGCCGCAGA	0.577																																																	0													86	80	82					17																	56270823		2203	4300	6503	SO:0001583	missense	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.262C>T	17.37:g.56270823C>T	ENSP00000225371:p.Arg88Trp		Q4TVP3	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R88W	ENST00000225371.5	37	c.262	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990433	0.35131	.	.	ENSG00000121053	ENST00000225371	T	0.74106	-0.81	4.47	2.36	0.29203	.	0.763615	0.12080	N	0.501460	T	0.78799	0.4340	M	0.68593	2.085	0.09310	N	1	D	0.69078	0.997	P	0.53006	0.715	T	0.67632	-0.5621	10	0.87932	D	0	-3.9139	10.6091	0.45410	0.5471:0.4529:0.0:0.0	.	88	P11678	PERE_HUMAN	W	88	ENSP00000225371:R88W	ENSP00000225371:R88W	R	+	1	2	EPX	53625822	0.001000	0.12720	0.001000	0.08648	0.320000	0.28249	0.304000	0.19228	0.362000	0.24319	0.549000	0.68633	CGG	EPX	-	NULL		0.577	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	C	NM_000502		56270823	1	no_errors	ENST00000225371	ensembl	human	known	70_37	missense	SNP	0.001	T	T	56270823	C	T	56270823	3	4	176	1	0	0	0	0	1	0	0	0	5212	875	31	1	272	1	EPX	17	56270823	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	17413396	56270823	24924387	216	33334										
BRIP1	83990	genome.wustl.edu	37	chr17	59761153	59761153	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gatgttcagaatgattttttCtagtaagggtggcatcaatc	10	5	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:59761153C>G	ENST00000259008.2	-	20	3521	c.3254G>C	c.(3253-3255)aGa>aCa	p.R1085T		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1085					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATGATTTTTTCTAGTAAGGGT	0.373			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													159	160	160					17																	59761153		2203	4300	6503	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3254G>C	17.37:g.59761153C>G	ENSP00000259008:p.Arg1085Thr		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R1085T	ENST00000259008.2	37	c.3254	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	1.060	-0.673161	0.03403	.	.	ENSG00000136492	ENST00000259008	T	0.73681	-0.77	4.67	2.11	0.27256	.	1.233200	0.05563	N	0.569590	T	0.49304	0.1549	N	0.03608	-0.345	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.35624	-0.9781	9	.	.	.	-3.0196	4.659	0.12632	0.0:0.1221:0.1939:0.684	.	1085	Q9BX63	FANCJ_HUMAN	T	1085	ENSP00000259008:R1085T	.	R	-	2	0	BRIP1	57115935	0.003000	0.15002	0.001000	0.08648	0.008000	0.06430	1.273000	0.33121	0.161000	0.19458	-0.262000	0.10625	AGA	BRIP1	-	NULL		0.373	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	C	NM_032043		59761153	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	missense	SNP	0.001	G	G	59761153	C	G	59761153	3	3	176	1	0	0	0	0	1	0	0	0	1517	913	32	1	499	1	BRIP1	17	59761153	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3490330	59761153	21434057	217	33335										
CCDC40	55036	genome.wustl.edu	37	chr17	78013713	78013713	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aagcggaagctgcaattgaaGagggggaggtggagacagaa	18	4	0	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:78013713G>C	ENST00000397545.4	+	3	223	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	CCDC40_ENST00000374876.4_Missense_Mutation_p.E66Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.E66Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.E66Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	66					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGCAATTGAAgagggggaggt	0.522																																																	0													54	57	56					17																	78013713		1987	4169	6156	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.196G>C	17.37:g.78013713G>C	ENSP00000380679:p.Glu66Gln		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.E66Q	ENST00000397545.4	37	c.196	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146553	0.21288	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84873	0.25;-1.91;0.25;0.35	3.36	2.39	0.29439	.	.	.	.	.	T	0.67163	0.2864	N	0.19112	0.55	0.09310	N	1	P;B	0.46020	0.871;0.006	B;B	0.31812	0.136;0.001	T	0.56811	-0.7917	9	0.28530	T	0.3	.	6.9146	0.24354	0.1255:0.0:0.8745:0.0	.	66;66	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	Q	66	ENSP00000364011:E66Q;ENSP00000269318:E66Q;ENSP00000364010:E66Q;ENSP00000380679:E66Q	ENSP00000269318:E66Q	E	+	1	0	CCDC40	75628308	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.119000	0.10676	1.016000	0.39470	-0.125000	0.14975	GAG	CCDC40	-	NULL		0.522	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	G	XM_371082		78013713	1	no_errors	ENST00000397545	ensembl	human	known	70_37	missense	SNP	0.005	C	C	78013713	G	C	78013713	3	2	176	1	0	0	0	0	1	0	0	0	2817	943	33	1	206	1	CCDC40	17	78013713	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	18252560	78013713	3181497	218	33336										
RNF213	57674	genome.wustl.edu	37	chr17	78360057	78360057	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctgtcgtttaaaggtgagatCaacctacccaaagactactg	8	10	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:78360057C>A	ENST00000582970.1	+	62	14690	c.14547C>A	c.(14545-14547)atC>atA	p.I4849I	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2922I|RNF213_ENST00000508628.2_Silent_p.I4898I|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4849					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGTGAGATCAACCTACCCA	0.547																																																	0													129	115	120					17																	78360057		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14547C>A	17.37:g.78360057C>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.I4849	ENST00000582970.1	37	c.14547	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78360057	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.997	A	A	78360057	C	A	78360057	2	1	176	1	0	0	0	0	0	0	0	1	13507	816	29	3		3	RNF213	17	78360057	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	346344	78360057	2835153	219	33337										
TXNDC2	84203	genome.wustl.edu	37	chr18	9886715	9886715	+	Missense_Mutation	SNP	C	C	A													0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccacatgcgcacagaggagtCtgatgcctcacaggagggcg							TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:9886715C>A	ENST00000306084.6	+	2	438	c.239C>A	c.(238-240)tCt>tAt	p.S80Y	TXNDC2_ENST00000536353.2_Missense_Mutation_p.S13Y|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.S13Y	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	80					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ACAGAGGAGTCTGATGCCTCA	0.567																																																	0													140	95	111					18																	9886715		2203	4300	6503	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.239C>A	18.37:g.9886715C>A	ENSP00000304908:p.Ser80Tyr		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.S80Y	ENST00000306084.6	37	c.239	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302132	0.40694	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.32515	1.45;2.82;2.24	3.19	1.38	0.22167	.	0.722709	0.11438	N	0.564084	T	0.40498	0.1119	L	0.49126	1.545	0.09310	N	1	D	0.55172	0.97	P	0.59424	0.857	T	0.16424	-1.0403	9	.	.	.	-3.0741	7.0368	0.24998	0.0:0.7608:0.0:0.2392	.	80	Q86VQ3	TXND2_HUMAN	Y	13;13;80;80	ENSP00000437393:S13Y;ENSP00000350419:S13Y;ENSP00000304908:S80Y	.	S	+	2	0	TXNDC2	9876715	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.299000	0.19138	0.396000	0.25283	0.563000	0.77884	TCT	TXNDC2	-	NULL		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886715	1	no_errors	ENST00000306084	ensembl	human	known	70_37	missense	SNP	0.001	A	A	9886715	C	A	9886715	3	1	176	1	0	0	0	0	1	0	0	0	16828	913	32	3	245	3	TXNDC2	18	9886715	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09		9886715	68190533	220	33338	216	2								
TXNDC2	84203	genome.wustl.edu	37	chr18	9886724	9886724	+	Missense_Mutation	SNP	C	C	T													0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cacagaggagtctgatgcctCacaggagggcgatgacctac							TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:9886724C>T	ENST00000306084.6	+	2	447	c.248C>T	c.(247-249)tCa>tTa	p.S83L	TXNDC2_ENST00000536353.2_Missense_Mutation_p.S16L|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.S16L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	83					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCTGATGCCTCACAGGAGGGC	0.567																																																	0													148	99	115					18																	9886724		2203	4300	6503	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.248C>T	18.37:g.9886724C>T	ENSP00000304908:p.Ser83Leu		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.S83L	ENST00000306084.6	37	c.248	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	C	5.681	0.310164	0.10733	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.17054	2.3;3.64;3.53	3.15	0.23	0.15372	.	1.400500	0.05198	N	0.504451	T	0.11281	0.0275	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33854	-0.9852	9	.	.	.	-0.0406	2.7472	0.05271	0.2056:0.4115:0.0:0.3829	.	83	Q86VQ3	TXND2_HUMAN	L	16;16;83;83	ENSP00000437393:S16L;ENSP00000350419:S16L;ENSP00000304908:S83L	.	S	+	2	0	TXNDC2	9876724	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.979000	0.03774	0.047000	0.15862	0.558000	0.71614	TCA	TXNDC2	-	NULL		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886724	1	no_errors	ENST00000306084	ensembl	human	known	70_37	missense	SNP	0.001	T	T	9886724	C	T	9886724	3	4	176	1	0	0	0	0	1	0	0	0	16828	838	29	1	254	1	TXNDC2	18	9886724	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	9	9886724	68190524	221	33339	216	2								
TXNDC2	84203	genome.wustl.edu	37	chr18	9886754	9886754	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cgatgacctacccaagtcctCagcaaacaccagccatccca	5	18	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:9886754C>T	ENST00000306084.6	+	2	477	c.278C>T	c.(277-279)tCa>tTa	p.S93L	TXNDC2_ENST00000536353.2_Missense_Mutation_p.S26L|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.S26L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	93					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGTCCTCAGCAAACACC	0.577																																																	0													170	108	129					18																	9886754		2203	4300	6503	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.278C>T	18.37:g.9886754C>T	ENSP00000304908:p.Ser93Leu		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.S93L	ENST00000306084.6	37	c.278	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	c	8.102	0.776836	0.16120	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.21734	1.99;2.33;2.33	3.09	2.2	0.27929	.	2.127950	0.02744	N	0.116637	T	0.19087	0.0458	L	0.39245	1.2	0.19300	N	0.999973	B	0.24258	0.1	B	0.26094	0.066	T	0.21518	-1.0243	9	.	.	.	-2.2257	4.5423	0.12064	0.0:0.6398:0.2302:0.1301	.	93	Q86VQ3	TXND2_HUMAN	L	26;26;93;93	ENSP00000437393:S26L;ENSP00000350419:S26L;ENSP00000304908:S93L	.	S	+	2	0	TXNDC2	9876754	0.023000	0.18921	0.007000	0.13788	0.009000	0.06853	0.810000	0.27183	0.864000	0.35578	0.650000	0.86243	TCA	TXNDC2	-	pfam_Glutenin		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886754	1	no_errors	ENST00000306084	ensembl	human	known	70_37	missense	SNP	0.005	T	T	9886754	C	T	9886754	3	4	176	1	0	0	0	0	1	0	0	0	16828	838	29	1	284	1	TXNDC2	18	9886754	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	30	9886754	68190494	222	33340										
FAM38B	63895	genome.wustl.edu	37	chr18	10704485	10704485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	atgaggatgggaagcaggagCgtgatcatggaggcagagac	18	5	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:10704485C>T	ENST00000503781.3	-	38	5825	c.5826G>A	c.(5824-5826)acG>acA	p.T1942T	PIEZO2_ENST00000302079.6_Silent_p.T1942T|PIEZO2_ENST00000580640.1_Silent_p.T1967T|RP11-856M7.2_ENST00000584167.1_RNA|PIEZO2_ENST00000285141.4_5'Flank|PIEZO2_ENST00000538948.1_5'Flank	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1942					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GAAGCAGGAGCGTGATCATGG	0.572																																																	0													112	106	108					18																	10704485		692	1591	2283	SO:0001819	synonymous_variant	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.5826G>A	18.37:g.10704485C>T			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	pfam_DUF3595	p.T1967	ENST00000503781.3	37	c.5901		18																																																																																			PIEZO2	-	NULL		0.572	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	C	NM_022068		10704485	-1	no_errors	ENST00000580640	ensembl	human	novel	70_37	silent	SNP	0.474	T	T	10704485	C	T	10704485	2	4	176	1	0	0	0	0	0	0	0	1	5573	755	27	2		2	FAM38B	18	10704485	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	817731	10704485	67372763	223	33341										
LAMA3	3909	genome.wustl.edu	37	chr18	21364001	21364001	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctgcagggtgtgactgtaatCtggaaggtgttctccctgaa	13	8	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:21364001C>T	ENST00000313654.9	+	12	1724	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	LAMA3_ENST00000399516.3_Silent_p.L495L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	495	Domain V.|Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGACTGTAATCTGGAAGGTGT	0.522																																																	0													147	150	149					18																	21364001		1910	4126	6036	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1483C>T	18.37:g.21364001C>T			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L495	ENST00000313654.9	37	c.1483	CCDS42419.1	18																																																																																			LAMA3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.522	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	C	NM_000227, NM_198129		21364001	1	no_errors	ENST00000313654	ensembl	human	known	70_37	silent	SNP	0.001	T	T	21364001	C	T	21364001	2	4	176	1	0	0	0	0	0	0	0	1	8627	912	32	1		1	LAMA3	18	21364001	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	10659516	21364001	56713247	224	33342										
PIK3C3	5289	genome.wustl.edu	37	chr18	39593471	39593471	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gaaaattttgatgatataaaGaatggattggaacctaccaa	8	4	0	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:39593471G>C	ENST00000262039.4	+	11	1322	c.1236G>C	c.(1234-1236)aaG>aaC	p.K412N	PIK3C3_ENST00000398870.3_Missense_Mutation_p.K349N	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	412	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATGATATAAAGAATGGATTGG	0.318										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												0													86	94	91					18																	39593471		2203	4298	6501	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1236G>C	18.37:g.39593471G>C	ENSP00000262039:p.Lys412Asn		Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.K412N	ENST00000262039.4	37	c.1236	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898573	0.33535	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.64618	-0.11;0.27	5.34	5.34	0.76211	Phosphoinositide 3-kinase, accessory (PIK) domain (2);Armadillo-type fold (1);	1.128250	0.06509	N	0.737704	T	0.45013	0.1321	N	0.05230	-0.09	0.80722	D	1	B;B	0.16396	0.017;0.0	B;B	0.15870	0.014;0.009	T	0.03287	-1.1052	9	.	.	.	.	14.6749	0.68972	0.0723:0.0:0.9277:0.0	.	349;412	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	N	412;349	ENSP00000262039:K412N;ENSP00000381845:K349N	.	K	+	3	2	PIK3C3	37847469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.747000	0.47475	2.649000	0.89929	0.650000	0.86243	AAG	PIK3C3	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34		0.318	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	G	NM_002647		39593471	1	no_errors	ENST00000262039	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39593471	G	C	39593471	3	2	176	1	0	0	0	0	1	0	0	0	11936	933	33	1	1278	1	PIK3C3	18	39593471	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	18229470	39593471	38483777	225	33343										
GRP	2922	genome.wustl.edu	37	chr18	56887606	56887606	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gagggaccgtgctgaccaagAtgtacccgcgcggcaaccac	13	14	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:56887606A>T	ENST00000256857.2	+	1	207	c.109A>T	c.(109-111)Atg>Ttg	p.M37L	GRP_ENST00000529320.2_Missense_Mutation_p.M37L|GRP_ENST00000420468.2_Missense_Mutation_p.M37L	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	37					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GCTGACCAAGATGTACCCGCG	0.736																																																	0													6	8	8					18																	56887606		2128	4164	6292	SO:0001583	missense	2922				CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"Endogenous ligands"	4605	protein-coding gene	gene with protein product	"bombesin", "neuromedin C", "prepro-GRP"	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.109A>T	18.37:g.56887606A>T	ENSP00000256857:p.Met37Leu		P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP	pfam_Bombesin	p.M37L	ENST00000256857.2	37	c.109	CCDS11971.1	18	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736620	0.69304	.	.	ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468	T;T;T	0.29397	1.57;1.61;1.58	4.02	4.02	0.46733	.	0.175446	0.38326	N	0.001733	T	0.37598	0.1009	L	0.32530	0.975	0.27009	N	0.964737	P;P;P	0.51147	0.942;0.696;0.798	D;P;P	0.67231	0.95;0.746;0.817	T	0.09378	-1.0677	10	0.54805	T	0.06	-15.6502	6.0251	0.19650	0.8852:0.0:0.1148:0.0	.	37;37;37	P07492-3;P07492;P07492-2	.;GRP_HUMAN;.	L	37	ENSP00000256857:M37L;ENSP00000434101:M37L;ENSP00000389696:M37L	ENSP00000256857:M37L	M	+	1	0	GRP	55038586	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.613000	0.46351	1.685000	0.51034	0.449000	0.29647	ATG	GRP	-	NULL		0.736	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRP	HGNC	protein_coding	OTTHUMT00000256131.2	A	NM_002091		56887606	1	no_errors	ENST00000256857	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56887606	A	T	56887606	3	4	176	1	0	0	0	0	1	0	0	0	6825	333	12	5	111	5	GRP	18	56887606	Missense_Mutation	SNP	A	TCGA-MY-A5BD-01A-11D-A26G-09	17294135	56887606	21189642	226	33344										
FBXO15	201456	genome.wustl.edu	37	chr18	71793246	71793246	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aggaggccagggtgcaggcaGaagatccgaatgagtctgtc	16	8	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:71793246G>A	ENST00000419743.2	-	6	955	c.876C>T	c.(874-876)ttC>ttT	p.F292F	FBXO15_ENST00000269500.5_Silent_p.F216F	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	292						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGTGCAGGCAGAAGATCCGAA	0.453																																																	0													129	110	116					18																	71793246		2203	4300	6503	SO:0001819	synonymous_variant	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.876C>T	18.37:g.71793246G>A			B3KST3	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F292	ENST00000419743.2	37	c.876	CCDS45884.1	18																																																																																			FBXO15	-	NULL		0.453	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	G	NM_152676		71793246	-1	no_errors	ENST00000419743	ensembl	human	known	70_37	silent	SNP	0.998	A	A	71793246	G	A	71793246	2	1	176	1	0	0	0	0	0	0	0	1	5746	933	33	1		1	FBXO15	18	71793246	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	14905640	71793246	6284002	227	33345										
SALL3	27164	genome.wustl.edu	37	chr18	76754229	76754229	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcctgccccatctgccagaaGaagttcaccaacgccgtggt	9	15	2	2	rs373469789		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:76754229G>A	ENST00000537592.2	+	2	2238	c.2238G>A	c.(2236-2238)aaG>aaA	p.K746K	SALL3_ENST00000575389.2_Silent_p.K746K|SALL3_ENST00000536229.3_Silent_p.K613K	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	746					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCTGCCAGAAGAAGTTCACCA	0.662																																																	0								G		0,4406		0,0,2203	70	61	64		2238	3.4	1	18		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SALL3	NM_171999.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		746/1301	76754229	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2238G>A	18.37:g.76754229G>A			Q9UGH1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K746	ENST00000537592.2	37	c.2238	CCDS12013.1	18																																																																																			SALL3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	G	NM_171999		76754229	1	no_errors	ENST00000537592	ensembl	human	known	70_37	silent	SNP	1.000	A	A	76754229	G	A	76754229	2	1	176	1	0	0	0	0	0	0	0	1	13842	933	33	1		1	SALL3	18	76754229	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	4960983	76754229	1323019	228	33346										
HCN2	610	genome.wustl.edu	37	chr19	615961	615961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctcttcccgccgccgccgccGccgccgcaggtcacctcggc	11	23	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:615961G>A	ENST00000251287.2	+	8	2210	c.2157G>A	c.(2155-2157)ccG>ccA	p.P719P	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	719	Pro-rich.				cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cgccgccgccgccgccgcAGG	0.731																																					Melanoma(145;1175 2427 8056 36306)												0													7	8	8					19																	615961		1806	3642	5448	SO:0001819	synonymous_variant	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.2157G>A	19.37:g.615961G>A			O60742|O60743|O75267|Q9UBS2	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.P719	ENST00000251287.2	37	c.2157	CCDS12035.1	19																																																																																			HCN2	-	NULL		0.731	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	G	NM_001194		615961	1	no_errors	ENST00000251287	ensembl	human	known	70_37	silent	SNP	0.732	A	A	615961	G	A	615961	2	1	176	1	0	0	0	0	0	0	0	1	7017	1074	38	2		2	HCN2	19	615961	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		615961	58513022	229	33347										
ATP5D	513	genome.wustl.edu	37	chr19	1242460	1242460	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cgctgttgtctgcaggtgttCttcaacggtgccaacgtccg	12	12	3	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:1242460C>T	ENST00000215375.2	+	2	248	c.147C>T	c.(145-147)ttC>ttT	p.F49F	ATP5D_ENST00000591660.1_Silent_p.F49F|AC004221.2_ENST00000592843.1_lincRNA|ATP5D_ENST00000395633.1_Silent_p.F49F	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	49					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to copper ion (GO:0046688)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCAGGTGTTCTTCAACGGTG	0.701																																																	0													25	20	22					19																	1242460		2171	4273	6444	SO:0001819	synonymous_variant	513			X63423	CCDS12058.1	19p13.3	2012-10-12			ENSG00000099624	ENSG00000099624		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	837	protein-coding gene	gene with protein product		603150				1531933	Standard	NM_001687		Approved		uc002lro.3	P30049		ENST00000215375.2:c.147C>T	19.37:g.1242460C>T			D6W5Y3|Q6FG90	Silent	SNP	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu	p.F49	ENST00000215375.2	37	c.147	CCDS12058.1	19																																																																																			ATP5D	-	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu		0.701	ATP5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5D	HGNC	protein_coding	OTTHUMT00000449958.1	C	NM_001687		1242460	1	no_errors	ENST00000215375	ensembl	human	known	70_37	silent	SNP	0.999	T	T	1242460	C	T	1242460	2	4	176	1	0	0	0	0	0	0	0	1	1151	912	32	1		1	ATP5D	19	1242460	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	626499	1242460	57886523	230	33348										
MUM1	84939	genome.wustl.edu	37	chr19	1358418	1358418	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aggtgaaaagcactgaagttGagatcctagagaagtctcaa	11	6	1	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:1358418G>A	ENST00000415183.3	+	3	198	c.172G>A	c.(172-174)Gag>Aag	p.E58K	MUM1_ENST00000591806.1_Missense_Mutation_p.E58K|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000344663.3_Missense_Mutation_p.E58K			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	57					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGAAGTTGAGATCCTAGA	0.403																																																	0													150	151	151					19																	1358418		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.172G>A	19.37:g.1358418G>A	ENSP00000394925:p.Glu58Lys		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.E58K	ENST00000415183.3	37	c.172		19	.	.	.	.	.	.	.	.	.	.	G	1.273	-0.612413	0.03690	.	.	ENSG00000160953	ENST00000344663;ENST00000415183	T;T	0.31247	1.5;1.5	4.65	-7.25	0.01470	.	0.780557	0.11175	N	0.591582	T	0.08268	0.0206	N	0.04203	-0.255	0.09310	N	0.999995	B;B	0.14438	0.004;0.01	B;B	0.12837	0.004;0.008	T	0.35151	-0.9800	10	0.02654	T	1	.	6.1799	0.20465	0.271:0.2524:0.4765:0.0	.	58;57	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	K	58	ENSP00000345789:E58K;ENSP00000394925:E58K	ENSP00000345789:E58K	E	+	1	0	MUM1	1309418	0.000000	0.05858	0.000000	0.03702	0.484000	0.33280	-0.589000	0.05767	-1.118000	0.02961	0.313000	0.20887	GAG	MUM1	-	NULL		0.403	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	G	NM_032853		1358418	1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	0.000	A	A	1358418	G	A	1358418	3	1	176	1	0	0	0	0	1	0	0	0	10008	1291	45	1	182	1	MUM1	19	1358418	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	115958	1358418	57770565	231	33349										
GAMT	2593	genome.wustl.edu	37	chr19	1399900	1399900	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcctgcacctttgacgctgcGatggccatgccaaagcccac	9	16	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:1399900G>A	ENST00000252288.2	-	2	285	c.219C>T	c.(217-219)atC>atT	p.I73I	GAMT_ENST00000447102.3_Silent_p.I73I	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	73	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.|S-adenosyl-L-methionine binding.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	TTGACGCTGCGATGGCCATGC	0.662																																					Colon(167;1531 1939 13427 28842 31956)												0													34	29	31					19																	1399900		2195	4297	6492	SO:0001819	synonymous_variant	2593			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.219C>T	19.37:g.1399900G>A			A8K0A0|Q53Y34|Q8WVJ1	Silent	SNP	NULL	p.I73	ENST00000252288.2	37	c.219	CCDS12064.1	19																																																																																			GAMT	-	NULL		0.662	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAMT	HGNC	protein_coding	OTTHUMT00000449739.1	G	NM_138924		1399900	-1	no_errors	ENST00000447102	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1399900	G	A	1399900	2	1	176	1	0	0	0	0	0	0	0	1	6250	1048	37	1		1	GAMT	19	1399900	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	41482	1399900	57729083	232	33350										
GNA15	2769	genome.wustl.edu	37	chr19	3151814	3151814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcaacgagtactgcttctccGtgcagaaaaccaacctgcgg	9	13	2	1	rs151214875	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:3151814G>A	ENST00000262958.3	+	4	853	c.595G>A	c.(595-597)Gtg>Atg	p.V199M	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	199					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTGCTTCTCCGTGCAGAAAAC	0.647																																																	0									MET/VAL	4,4402	8.1+/-20.4	0,4,2199	89	77	81		595	4.6	1	19	dbSNP_134	81	0,8600		0,0,4300	no	missense	GNA15	NM_002068.2	21	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	199/375	3151814	4,13002	2203	4300	6503	SO:0001583	missense	2769				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.595G>A	19.37:g.3151814G>A	ENSP00000262958:p.Val199Met		E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.V199M	ENST00000262958.3	37	c.595	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359282	0.61403	9.08E-4	0.0	ENSG00000060558	ENST00000262958	D	0.88664	-2.41	4.59	4.59	0.56863	.	0.149327	0.43919	D	0.000514	D	0.88269	0.6391	L	0.33339	1.005	0.42171	D	0.99164	B	0.33238	0.403	P	0.45681	0.49	D	0.89333	0.3648	10	0.72032	D	0.01	.	14.9063	0.70721	0.0:0.0:1.0:0.0	.	199	P30679	GNA15_HUMAN	M	199	ENSP00000262958:V199M	ENSP00000262958:V199M	V	+	1	0	GNA15	3102814	0.076000	0.21285	0.999000	0.59377	0.990000	0.78478	0.240000	0.18042	2.093000	0.63338	0.546000	0.68486	GTG	GNA15	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su		0.647	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	G	NM_002068		3151814	1	no_errors	ENST00000262958	ensembl	human	known	70_37	missense	SNP	0.999	A	A	3151814	G	A	3151814	3	1	176	1	0	0	0	0	1	0	0	0	6522	1145	40	2	609	2	GNA15	19	3151814	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1751914	3151814	55977169	233	33351										
C19orf29	58509	genome.wustl.edu	37	chr19	3614486	3614486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	accagcgcggattttgccctCgatgccctggaagatgacct	11	13	0	2	rs377058963		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:3614486C>T	ENST00000429344.2	-	7	1316	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Missense_Mutation_p.E422K|CACTIN_ENST00000221899.3_Missense_Mutation_p.E354K	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	422					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ATTTTGCCCTCGATGCCCTGG	0.632																																																	0								C	LYS/GLU,LYS/GLU	0,4136		0,0,2068	60	70	67		1264,1264	3.4	1	19		67	1,8409		0,1,4204	no	missense,missense	C19orf29	NM_001080543.1,NM_021231.1	56,56	0,1,6272	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	422/759,422/759	3614486	1,12545	2068	4205	6273	SO:0001583	missense	58509			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1264G>A	19.37:g.3614486C>T	ENSP00000415078:p.Glu422Lys		A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	pfam_Cactin_dom,pfam_Cactin_C	p.E354K	ENST00000429344.2	37	c.1060	CCDS45920.1	19	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414260	0.62511	0.0	1.19E-4	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000446452;ENST00000221899	.	.	.	4.51	3.44	0.39384	Cactin, domain (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	L	0.42744	1.35	0.54753	D	0.999981	P;D	0.89917	0.566;1.0	B;D	0.68765	0.121;0.96	T	0.62544	-0.6832	9	0.33141	T	0.24	.	13.0592	0.58997	0.0:0.8367:0.1633:0.0	.	422;422	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	K	422;422;234;354	.	ENSP00000221899:E354K	E	-	1	0	C19orf29	3565486	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.203000	0.77864	1.074000	0.40909	0.561000	0.74099	GAG	CACTIN	-	pfam_Cactin_dom		0.632	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	HGNC	protein_coding	OTTHUMT00000457370.2	C			3614486	-1	no_errors	ENST00000221899	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3614486	C	T	3614486	3	4	176	1	0	0	0	0	1	0	0	0	1923	893	31	1	1028	1	C19orf29	19	3614486	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	462672	3614486	55514497	234	33352										
LONP1	25873	genome.wustl.edu	37	chr19	5694527	5694527	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cacctccacggactcggcctCgccgctgacaatcttgtagg	10	16	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:5694527C>T	ENST00000577222.1	+	0	874				LONP1_ENST00000593119.1_Missense_Mutation_p.E667K|LONP1_ENST00000590729.1_Missense_Mutation_p.E601K|LONP1_ENST00000360614.3_Missense_Mutation_p.E731K|LONP1_ENST00000540670.2_Missense_Mutation_p.E535K|LONP1_ENST00000585374.1_Missense_Mutation_p.E617K			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GACTCGGCCTCGCCGCTGACA	0.647																																																	0													64	52	56					19																	5694527		2202	4300	6502	SO:0001628	intergenic_variant	9361				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5694527C>T			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.E731K	ENST00000577222.1	37	c.2191	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047517	0.36085	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.23754	2.22;1.89	3.97	2.9	0.33743	.	0.179238	0.46758	D	0.000264	T	0.19485	0.0468	L	0.35723	1.085	0.37925	D	0.931829	B;B;B	0.29378	0.062;0.243;0.123	B;B;B	0.24974	0.021;0.057;0.028	T	0.09271	-1.0682	10	0.52906	T	0.07	-28.0397	11.1972	0.48719	0.0:0.8118:0.1881:0.0	.	731;667;731	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	K	731;695;535	ENSP00000353826:E731K;ENSP00000441523:E535K	ENSP00000351177:E695K	E	-	1	0	LONP1	5645527	0.996000	0.38824	0.085000	0.20634	0.603000	0.37013	3.438000	0.52871	0.632000	0.30432	0.462000	0.41574	GAG	LONP1	-	tigrfam_Pept_S16_lon		0.647	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000442561.1	C	NM_015414		5694527	-1	no_errors	ENST00000360614	ensembl	human	known	70_37	missense	SNP	0.468	T	T	5694527	C	T	5694527	1	4	176	0	1	0	0	0	0	0	0	0	8915	893	31	1		1	LONP1	19	5694527	IGR	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2080041	5694527	53434456	235	33353										
LONP1	257062	genome.wustl.edu	37	chr19	5719717	5719717	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggcggggactcccattacctCgataatcttgataaagcgcg	11	11	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:5719717C>T	ENST00000381624.3	+	0	0				LONP1_ENST00000593119.1_Missense_Mutation_p.E79K|LONP1_ENST00000590729.1_Missense_Mutation_p.E29K|LONP1_ENST00000360614.3_Missense_Mutation_p.E143K|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000585374.1_Missense_Mutation_p.E29K|LONP1_ENST00000590511.1_5'UTR|CATSPERD_ENST00000381614.2_5'Flank	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CCCATTACCTCGATAATCTTG	0.597																																																	0													40	40	40					19																	5719717		2202	4298	6500	SO:0001631	upstream_gene_variant	9361			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		19.37:g.5719717C>T	Exception_encountered		Q6ZRP1	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.E143K	ENST00000381624.3	37	c.427	CCDS12149.2	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481258	0.84747	.	.	ENSG00000196365	ENST00000360614;ENST00000358403	T	0.42513	0.97	4.48	4.48	0.54585	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.054664	0.64402	D	0.000001	T	0.63896	0.2550	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.969;0.984	T	0.66404	-0.5932	10	0.46703	T	0.11	-18.9815	14.7205	0.69302	0.0:1.0:0.0:0.0	.	143;79;143	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	K	143;107	ENSP00000353826:E143K	ENSP00000351177:E107K	E	-	1	0	LONP1	5670717	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.492000	0.73654	2.315000	0.78130	0.591000	0.81541	GAG	LONP1	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Pept_S16_lon		0.597	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000286953.2	C	NM_152784		5719717	-1	no_errors	ENST00000360614	ensembl	human	known	70_37	missense	SNP	1.000	T	T	5719717	C	T	5719717	1	4	176	0	1	0	0	0	0	0	0	0	8915	893	31	1		1	LONP1	19	5719717	5'Flank	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	25190	5719717	53409266	236	33354										
SLC25A41	8570	genome.wustl.edu	37	chr19	6426421	6426421	+	5'Flank	SNP	C	C	T													0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tatatgcccagggttttcttCatggcttcgtacaccacata							TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:6426421C>T	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.M364I	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGGTTTTCTTCATGGCTTCGT	0.592																																					Colon(55;593 1006 2067 9135 22980)												0													92	90	91					19																	6426421		2060	4215	6275	SO:0001631	upstream_gene_variant	284427			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6426421C>T	Exception_encountered		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.M364I	ENST00000398148.3	37	c.1092	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151022	0.57151	.	.	ENSG00000181240	ENST00000321510	T	0.77620	-1.11	4.7	4.7	0.59300	Mitochondrial carrier domain (2);	.	.	.	.	T	0.68339	0.2990	N	0.25245	0.725	0.80722	D	1	B	0.25809	0.135	B	0.30401	0.115	T	0.64914	-0.6295	9	0.32370	T	0.25	-41.5633	16.5629	0.84570	0.0:1.0:0.0:0.0	.	364	Q8N5S1	S2541_HUMAN	I	364	ENSP00000322649:M364I	ENSP00000322649:M364I	M	-	3	0	SLC25A41	6377421	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.487000	0.53222	2.418000	0.82041	0.563000	0.77884	ATG	SLC25A41	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.592	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000453305.1	C			6426421	-1	no_errors	ENST00000321510	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6426421	C	T	6426421	1	4	176	0	1	0	0	0	0	0	0	0	14536	826	29	1		1	SLC25A41	19	6426421	5'Flank	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	706704	6426421	52702562	237	33355	217	2								
SLC25A41	8570	genome.wustl.edu	37	chr19	6426429	6426429	+	5'Flank	SNP	C	C	T													0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagggttttcttcatggcttCgtacaccacatagctgatgc							TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:6426429C>T	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.E362K	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTCATGGCTTCGTACACCACA	0.592																																					Colon(55;593 1006 2067 9135 22980)												0													93	92	92					19																	6426429		2074	4215	6289	SO:0001631	upstream_gene_variant	284427			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6426429C>T	Exception_encountered		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E362K	ENST00000398148.3	37	c.1084	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491685	0.84962	.	.	ENSG00000181240	ENST00000321510	D	0.88664	-2.41	4.7	3.67	0.42095	Mitochondrial carrier domain (2);	.	.	.	.	D	0.94578	0.8253	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.95009	0.8150	9	0.87932	D	0	-9.3486	12.0714	0.53618	0.0:0.9144:0.0:0.0856	.	362	Q8N5S1	S2541_HUMAN	K	362	ENSP00000322649:E362K	ENSP00000322649:E362K	E	-	1	0	SLC25A41	6377429	0.999000	0.42202	0.322000	0.25334	0.754000	0.42855	4.418000	0.59828	1.189000	0.43028	-0.244000	0.11960	GAA	SLC25A41	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.592	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000453305.1	C			6426429	-1	no_errors	ENST00000321510	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6426429	C	T	6426429	1	4	176	0	1	0	0	0	0	0	0	0	14536	893	31	1		1	SLC25A41	19	6426429	5'Flank	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	8	6426429	52702554	238	33356	217	2								
ZNF414	84330	genome.wustl.edu	37	chr19	8578212	8578212	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcatgtctgggatgggccctGagggtttctcctcctggtgg	16	10	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:8578212G>C	ENST00000255616.8	-	2	118	c.17C>G	c.(16-18)tCa>tGa	p.S6*	ZNF414_ENST00000393927.4_Nonsense_Mutation_p.S6*	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GATGGGCCCTGAGGGTTTCTC	0.632																																																	0													14	17	16					19																	8578212		2202	4299	6501	SO:0001587	stop_gained	84330			AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"Zinc fingers, C2H2-type"	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.17C>G	19.37:g.8578212G>C	ENSP00000255616:p.Ser6*		A8MY94	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S6*	ENST00000255616.8	37	c.17	CCDS12205.1	19	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973916	0.53720	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	.	.	.	4.2	3.1	0.35709	.	0.707951	0.11699	N	0.538191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.0863	6.4626	0.21964	0.1526:0.0:0.8474:0.0	.	.	.	.	X	6	.	ENSP00000255616:S6X	S	-	2	0	ZNF414	8484212	0.001000	0.12720	0.003000	0.11579	0.100000	0.18952	0.667000	0.25112	1.033000	0.39918	0.655000	0.94253	TCA	ZNF414	-	NULL		0.632	ZNF414-002	KNOWN	basic|CCDS	protein_coding	ZNF414	HGNC	protein_coding	OTTHUMT00000460199.2	G	NM_032370		8578212	-1	no_errors	ENST00000393927	ensembl	human	known	70_37	nonsense	SNP	0.003	C	C	8578212	G	C	8578212	4	2	176	1	0	0	0	0	0	1	0	0	17921	1294	45	1	1197	1	ZNF414	19	8578212	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2151783	8578212	50550771	239	33357										
ZNF44	51710	genome.wustl.edu	37	chr19	12384320	12384320	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgcttacattcatacggtttCtccccagtgtgtattttttc	6	10	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:12384320C>T	ENST00000356109.5	-	5	1012	c.894G>A	c.(892-894)gaG>gaA	p.E298E	ZNF44_ENST00000355684.5_Silent_p.E250E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATACGGTTTCTCCCCAGTGT	0.393																																																	0													115	122	120					19																	12384320		2199	4299	6498	SO:0001819	synonymous_variant	51710			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.894G>A	19.37:g.12384320C>T			B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E298	ENST00000356109.5	37	c.894	CCDS54223.1	19																																																																																			ZNF44	-	pfscan_Znf_C2H2		0.393	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF44	HGNC	protein_coding	OTTHUMT00000344132.1	C	NM_016264		12384320	-1	no_errors	ENST00000393337	ensembl	human	known	70_37	silent	SNP	1.000	T	T	12384320	C	T	12384320	2	4	176	1	0	0	0	0	0	0	0	1	17942	912	32	1		1	ZNF44	19	12384320	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3806108	12384320	46744663	240	33358										
C19orf57	79173	genome.wustl.edu	37	chr19	14003957	14003957	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gccacaggacgagctcacctGggaaggaggaaggggagctg	18	9	1	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:14003957G>A	ENST00000586783.1	-	3	285	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	C19orf57_ENST00000454313.1_Nonsense_Mutation_p.Q96*|C19orf57_ENST00000346736.2_Nonsense_Mutation_p.Q96*|C19orf57_ENST00000591586.1_Nonsense_Mutation_p.Q96*			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	96					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAGCTCACCTGGGAAGGAGGA	0.537																																																	0													45	43	44					19																	14003957		2202	4298	6500	SO:0001587	stop_gained	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.286C>T	19.37:g.14003957G>A	ENSP00000465822:p.Gln96*		Q13411|Q8N825|Q96D63|Q9BU49	Nonsense_Mutation	SNP	NULL	p.Q96*	ENST00000586783.1	37	c.286		19	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385620	0.82792	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	.	.	.	3.99	3.99	0.46301	.	0.494595	0.15576	N	0.255194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-3.8967	11.7721	0.51965	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000254336:Q96X	Q	-	1	0	C19orf57	13864957	1.000000	0.71417	0.991000	0.47740	0.164000	0.22412	3.775000	0.55349	2.214000	0.71695	0.561000	0.74099	CAG	C19orf57	-	NULL		0.537	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	G	NM_024323		14003957	-1	no_errors	ENST00000454313	ensembl	human	known	70_37	nonsense	SNP	0.991	A	A	14003957	G	A	14003957	4	1	176	1	0	0	0	0	0	1	0	0	1944	1357	47	4	1647	4	C19orf57	19	14003957	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1619637	14003957	45125026	241	33359										
RFX1	5989	genome.wustl.edu	37	chr19	14073659	14073659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctcgtcctcgctctcctcctCctcttcttcctcctcgtctg	4	21	4	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:14073659C>T	ENST00000254325.4	-	21	3022	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	930	Asp/Glu-rich (acidic).|Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ctctcctcctcctcttcttcc	0.716																																																	0													5	4	4					19																	14073659		1916	3778	5694	SO:0001583	missense	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2788G>A	19.37:g.14073659C>T	ENSP00000254325:p.Glu930Lys			Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.E930K	ENST00000254325.4	37	c.2788	CCDS12301.1	19	.	.	.	.	.	.	.	.	.	.	c	20.1	3.940671	0.73557	.	.	ENSG00000132005	ENST00000254325	T	0.59772	0.24	4.77	4.77	0.60923	.	0.199084	0.40640	N	0.001042	T	0.55625	0.1932	L	0.59436	1.845	0.80722	D	1	B	0.24483	0.104	B	0.25140	0.058	T	0.54193	-0.8330	10	0.33141	T	0.24	-4.3285	16.5866	0.84728	0.0:1.0:0.0:0.0	.	930	P22670	RFX1_HUMAN	K	930	ENSP00000254325:E930K	ENSP00000254325:E930K	E	-	1	0	RFX1	13934659	1.000000	0.71417	0.997000	0.53966	0.767000	0.43475	5.132000	0.64758	2.201000	0.70794	0.430000	0.28490	GAG	RFX1	-	NULL		0.716	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	C	NM_002918		14073659	-1	no_errors	ENST00000254325	ensembl	human	known	70_37	missense	SNP	1.000	T	T	14073659	C	T	14073659	3	4	176	1	0	0	0	0	1	0	0	0	13292	864	30	1	155	1	RFX1	19	14073659	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	69702	14073659	45055324	242	33360										
PGLYRP2	114770	genome.wustl.edu	37	chr19	15587259	15587259	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	aactctgtagcattgaggctCcatgcccccagcaggaagtg	11	12	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:15587259C>T	ENST00000340880.4	-	2	702	c.222G>A	c.(220-222)tgG>tgA	p.W74*	PGLYRP2_ENST00000292609.4_Nonsense_Mutation_p.W74*	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	74					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATTGAGGCTCCATGCCCCCA	0.582																																																	0													99	73	81					19																	15587259		2203	4300	6503	SO:0001587	stop_gained	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.222G>A	19.37:g.15587259C>T	ENSP00000345968:p.Trp74*		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Nonsense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.W74*	ENST00000340880.4	37	c.222	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	C	36	5.853985	0.97030	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	.	.	.	5.27	-4.24	0.03777	.	3.039610	0.01197	N	0.007494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.3607	5.1581	0.15046	0.0:0.3273:0.2614:0.4113	.	.	.	.	X	74	.	ENSP00000292609:W74X	W	-	3	0	PGLYRP2	15448259	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.889000	0.04144	-1.018000	0.03363	-0.251000	0.11542	TGG	PGLYRP2	-	NULL		0.582	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	C	NM_052890		15587259	-1	no_errors	ENST00000292609	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	15587259	C	T	15587259	4	4	176	1	0	0	0	0	0	1	0	0	11818	856	30	1	1524	1	PGLYRP2	19	15587259	Nonsense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1513600	15587259	43541724	243	33361										
SF4	57794	genome.wustl.edu	37	chr19	19391009	19391009	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cttacctcctgctgctccttCagctgcttcttctgggcgtc	8	16	3	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:19391009C>T	ENST00000247001.5	-	9	1682	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	445	Gln/Met-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCTGCTCCTTCAGCTGCTTCT	0.617																																																	0													98	79	85					19																	19391009		2203	4300	6503	SO:0001819	synonymous_variant	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1335G>A	19.37:g.19391009C>T			O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Silent	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.L445	ENST00000247001.5	37	c.1335	CCDS12399.1	19																																																																																			SUGP1	-	NULL		0.617	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	HGNC	protein_coding	OTTHUMT00000460128.4	C	NM_021164		19391009	-1	no_errors	ENST00000247001	ensembl	human	known	70_37	silent	SNP	0.998	T	T	19391009	C	T	19391009	2	4	176	1	0	0	0	0	0	0	0	1	14185	813	29	1		1	SF4	19	19391009	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3803750	19391009	39737974	244	33362										
ZNF257	113835	genome.wustl.edu	37	chr19	22271465	22271465	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagctcttactacccttactCaacataagagaattcatact	3	12	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:22271465C>G	ENST00000594947.1	+	4	1057	c.913C>G	c.(913-915)Caa>Gaa	p.Q305E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACCCTTACTCAACATAAGAG	0.393																																																	0													47	51	50					19																	22271465		2124	4250	6374	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.913C>G	19.37:g.22271465C>G	ENSP00000470209:p.Gln305Glu		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q305E	ENST00000594947.1	37	c.913	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	0.177	-1.065694	0.01934	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.71	0.11234	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13586	0.0329	N	0.05608	-0.01	0.09310	N	1	P	0.49185	0.92	B	0.43623	0.425	T	0.19192	-1.0313	8	0.14252	T	0.57	.	6.7605	0.23538	0.0:0.3569:0.6431:0.0	.	305	Q9Y2Q1	ZN257_HUMAN	E	305;277	.	ENSP00000380312:Q277E	Q	+	1	0	ZNF257	22063305	.	.	0.082000	0.20525	0.179000	0.23085	.	.	0.518000	0.28383	0.313000	0.20887	CAA	ZNF257	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	C			22271465	1	no_errors	ENST00000594947	ensembl	human	known	70_37	missense	SNP	0.251	G	G	22271465	C	G	22271465	3	3	176	1	0	0	0	0	1	0	0	0	17830	827	29	1	927	1	ZNF257	19	22271465	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2880456	22271465	36857518	245	33363										
HNRNPL	3191	genome.wustl.edu	37	chr19	39334736	39334736	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cccgctgggcactttgaactGagtcaaatgtgagtcaagtt	11	9	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:39334736G>A	ENST00000221419.5	-	5	1085	c.719C>T	c.(718-720)tCa>tTa	p.S240L	HNRNPL_ENST00000600873.1_Missense_Mutation_p.S107L|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	240	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACTTTGAACTGAGTCAAATGT	0.488																																																	0													87	80	82					19																	39334736		2203	4300	6503	SO:0001583	missense	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.719C>T	19.37:g.39334736G>A	ENSP00000221419:p.Ser240Leu		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.S240L	ENST00000221419.5	37	c.719	CCDS33015.1	19	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767976	0.69878	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	1.239250	0.06623	N	0.757833	T	0.72293	0.3442	M	0.62154	1.92	0.80722	D	1	B	0.21452	0.056	B	0.26770	0.073	T	0.58092	-0.7697	9	0.66056	D	0.02	.	18.625	0.91334	0.0:0.0:1.0:0.0	.	240	P14866	HNRPL_HUMAN	L	240;107;107;107;168	.	ENSP00000221419:S240L	S	-	2	0	HNRNPL	44026576	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.772000	0.98984	2.694000	0.91930	0.557000	0.71058	TCA	HNRNPL	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.488	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1	G			39334736	-1	no_errors	ENST00000221419	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39334736	G	A	39334736	3	1	176	1	0	0	0	0	1	0	0	0	7290	1294	45	1	1086	1	HNRNPL	19	39334736	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	17063271	39334736	19794247	246	33364										
SAMD4B	55095	genome.wustl.edu	37	chr19	39868421	39868421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cctgccccggctcccgtcgcCgacggagacatccccagcca	10	21	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:39868421C>T	ENST00000314471.6	+	10	2436	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	SAMD4B_ENST00000598913.1_Silent_p.A467A|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTCCCGTCGCCGACGGAGACA	0.617																																																	0													38	40	39					19																	39868421		2203	4299	6502	SO:0001819	synonymous_variant	55095				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1401C>T	19.37:g.39868421C>T			A5Z0M6|Q6P194	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.A467	ENST00000314471.6	37	c.1401	CCDS33020.1	19																																																																																			SAMD4B	-	NULL		0.617	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1	C	NM_018028		39868421	1	no_errors	ENST00000314471	ensembl	human	known	70_37	silent	SNP	0.490	T	T	39868421	C	T	39868421	2	4	176	1	0	0	0	0	0	0	0	1	13852	639	23	2		2	SAMD4B	19	39868421	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	533685	39868421	19260562	247	33365										
ATP1A3	478	genome.wustl.edu	37	chr19	42489283	42489283	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agccctgatgccagggtggcGatacggcccatgacagtgcg	15	12	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:42489283G>C	ENST00000302102.5	-	8	930	c.780C>G	c.(778-780)atC>atG	p.I260M	ATP1A3_ENST00000543770.1_Missense_Mutation_p.I271M|ATP1A3_ENST00000545399.1_Missense_Mutation_p.I273M|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Missense_Mutation_p.I230M	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	260					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGTGGCGATACGGCCCA	0.672																																																	0													83	67	73					19																	42489283		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.780C>G	19.37:g.42489283G>C	ENSP00000302397:p.Ile260Met		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.I260M	ENST00000302102.5	37	c.780	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	g	10.95	1.495806	0.26774	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	4.28	-8.57	0.00900	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	H	0.95260	3.645	0.49483	D	0.999797	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96236	0.9172	10	0.87932	D	0	.	12.3031	0.54887	0.3338:0.0:0.5766:0.0897	.	273;271;260;260	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	M	260;260;273;230;4;271	ENSP00000302397:I260M;ENSP00000411503:I260M;ENSP00000444688:I273M;ENSP00000437577:I271M	ENSP00000302397:I260M	I	-	3	3	ATP1A3	47181123	0.000000	0.05858	0.262000	0.24481	0.393000	0.30537	-1.694000	0.01915	-3.332000	0.00185	-2.858000	0.00101	ATC	ATP1A3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.672	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	G	NM_152296		42489283	-1	no_errors	ENST00000302102	ensembl	human	known	70_37	missense	SNP	0.337	C	C	42489283	G	C	42489283	3	2	176	1	0	0	0	0	1	0	0	0	1131	1048	37	1	2325	1	ATP1A3	19	42489283	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2620862	42489283	16639700	248	33366										
GEMIN7	79760	genome.wustl.edu	37	chr19	45593642	45593642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gagggtgtgcgtgtggccgcCcactttggagccaccgacct	15	13	0	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:45593642C>T	ENST00000270257.4	+	3	517	c.270C>T	c.(268-270)gcC>gcT	p.A90A	GEMIN7_ENST00000591747.1_Silent_p.A90A|GEMIN7_ENST00000591607.1_Silent_p.A90A|CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Silent_p.A90A|PPP1R37_ENST00000221462.4_5'Flank|PPP1R37_ENST00000421905.1_5'Flank	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	90					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GTGTGGCCGCCCACTTTGGAG	0.627																																																	0													54	50	52					19																	45593642		2203	4300	6503	SO:0001819	synonymous_variant	79760			AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.270C>T	19.37:g.45593642C>T			Q6IA34	Silent	SNP	pfam_SMN_gemin7	p.A90	ENST00000270257.4	37	c.270	CCDS12654.1	19																																																																																			GEMIN7	-	pfam_SMN_gemin7		0.627	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN7	HGNC	protein_coding	OTTHUMT00000457533.1	C			45593642	1	no_errors	ENST00000270257	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45593642	C	T	45593642	2	4	176	1	0	0	0	0	0	0	0	1	6352	610	22	4		4	GEMIN7	19	45593642	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3104359	45593642	13535341	249	33367										
FBXO46	23403	genome.wustl.edu	37	chr19	46216269	46216269	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggtccacgtcctcaccggctGaggcggggccctcctcagca	13	17	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:46216269G>A	ENST00000317683.3	-	2	618	c.485C>T	c.(484-486)tCa>tTa	p.S162L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	162										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTCACCGGCTGAGGCGGGGCC	0.716																																																	0													6	8	7					19																	46216269		1912	4057	5969	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.485C>T	19.37:g.46216269G>A	ENSP00000410007:p.Ser162Leu			Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S162L	ENST00000317683.3	37	c.485	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	g	5.330	0.246218	0.10130	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.24	3.14	0.36123	.	.	.	.	.	T	0.24661	0.0598	L	0.29908	0.895	0.09310	N	1	B	0.32829	0.386	B	0.28139	0.086	T	0.10268	-1.0637	8	0.49607	T	0.09	-10.9181	9.1274	0.36824	0.0:0.2451:0.7549:0.0	.	162	Q6PJ61	FBX46_HUMAN	L	162	.	ENSP00000410007:S162L	S	-	2	0	FBXO46	50908109	0.002000	0.14202	0.036000	0.18154	0.208000	0.24298	0.632000	0.24583	2.202000	0.70862	0.558000	0.71614	TCA	FBXO46	-	NULL		0.716	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	G	XM_371179		46216269	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	missense	SNP	0.031	A	A	46216269	G	A	46216269	3	1	176	1	0	0	0	0	1	0	0	0	5773	1294	45	1	1330	1	FBXO46	19	46216269	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	622627	46216269	12912714	250	33368										
FUT2	2524	genome.wustl.edu	37	chr19	49206750	49206750	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cacgtgcgggaggaggcccaGaagttcctgcggggcctgca	17	12	0	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:49206750G>T	ENST00000425340.2	+	2	654	c.537G>T	c.(535-537)caG>caT	p.Q179H	FUT2_ENST00000391876.4_Missense_Mutation_p.Q179H	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	179					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AGGAGGCCCAGAAGTTCCTGC	0.637																																																	0													31	35	34					19																	49206750		2203	4300	6503	SO:0001583	missense	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.537G>T	19.37:g.49206750G>T	ENSP00000387498:p.Gln179His		Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.Q179H	ENST00000425340.2	37	c.537	CCDS33069.1	19	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271880	0.40194	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96940	-4.18;-4.18;-4.18	5.05	4.0	0.46444	.	.	.	.	.	D	0.97929	0.9319	M	0.89715	3.055	0.27401	N	0.954851	D	0.89917	1.0	D	0.91635	0.999	D	0.92996	0.6419	9	0.87932	D	0	.	5.9526	0.19255	0.096:0.0:0.7129:0.1911	.	179	Q10981	FUT2_HUMAN	H	179	ENSP00000430227:Q179H;ENSP00000387498:Q179H;ENSP00000375748:Q179H	ENSP00000375748:Q179H	Q	+	3	2	FUT2	53898562	0.945000	0.32115	0.853000	0.33588	0.079000	0.17450	1.440000	0.35024	2.500000	0.84329	0.549000	0.68633	CAG	FUT2	-	pfam_Glyco_trans_11		0.637	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT2	HGNC	protein_coding	OTTHUMT00000378731.2	G	NM_000511		49206750	1	no_errors	ENST00000391876	ensembl	human	known	70_37	missense	SNP	0.766	T	T	49206750	G	T	49206750	3	4	176	1	0	0	0	0	1	0	0	0	6122	933	33	3	539	3	FUT2	19	49206750	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2990481	49206750	9922233	251	33369			3	137		3	3	266	G		3.02263e-06
FUT2	2524	genome.wustl.edu	37	chr19	49206957	49206957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	accagtaatggcatggcctgGtgtcgggagaacattgacac	13	9	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:49206957G>T	ENST00000425340.2	+	2	861	c.744G>T	c.(742-744)tgG>tgT	p.W248C	FUT2_ENST00000391876.4_Missense_Mutation_p.W248C	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	248					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCATGGCCTGGTGTCGGGAGA	0.577																																																	0													173	152	159					19																	49206957		2203	4300	6503	SO:0001583	missense	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.744G>T	19.37:g.49206957G>T	ENSP00000387498:p.Trp248Cys		Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.W248C	ENST00000425340.2	37	c.744	CCDS33069.1	19	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425613	0.43020	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	D;D	0.99298	-5.71;-5.71	5.16	5.16	0.70880	.	.	.	.	.	D	0.99518	0.9828	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98304	1.0520	8	.	.	.	.	16.5024	0.84261	0.0:0.0:1.0:0.0	.	248	Q10981	FUT2_HUMAN	C	248	ENSP00000387498:W248C;ENSP00000375748:W248C	.	W	+	3	0	FUT2	53898769	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	5.873000	0.69644	2.559000	0.86315	0.549000	0.68633	TGG	FUT2	-	pfam_Glyco_trans_11		0.577	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT2	HGNC	protein_coding	OTTHUMT00000378731.2	G	NM_000511		49206957	1	no_errors	ENST00000391876	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49206957	G	T	49206957	3	4	176	1	0	0	0	0	1	0	0	0	6122	1270	44	4	746	4	FUT2	19	49206957	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	207	49206957	9922026	252	33370			3	137		3	3	266	G		3.02263e-06
FUT2	2524	genome.wustl.edu	37	chr19	49207015	49207015	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgtttgctggcgatggcattGagggctcacctgccaaagat	13	9	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:49207015G>T	ENST00000425340.2	+	2	919	c.802G>T	c.(802-804)Gag>Tag	p.E268*	FUT2_ENST00000391876.4_Nonsense_Mutation_p.E268*	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	268					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGATGGCATTGAGGGCTCACC	0.562																																																	0													268	217	235					19																	49207015		2203	4300	6503	SO:0001587	stop_gained	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.802G>T	19.37:g.49207015G>T	ENSP00000387498:p.Glu268*		Q0VAG5|Q14338|Q5D0G2	Nonsense_Mutation	SNP	pfam_Glyco_trans_11	p.E268*	ENST00000425340.2	37	c.802	CCDS33069.1	19	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028051	0.54790	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1416	0.81528	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	.	E	+	1	0	FUT2	53898827	1.000000	0.71417	0.115000	0.21578	0.133000	0.20885	4.259000	0.58828	2.465000	0.83290	0.549000	0.68633	GAG	FUT2	-	pfam_Glyco_trans_11		0.562	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT2	HGNC	protein_coding	OTTHUMT00000378731.2	G	NM_000511		49207015	1	no_errors	ENST00000391876	ensembl	human	known	70_37	nonsense	SNP	0.921	T	T	49207015	G	T	49207015	4	4	176	1	0	0	0	0	0	1	0	0	6122	1291	45	3	804	3	FUT2	19	49207015	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	58	49207015	9921968	253	33371			3	137		3	3	266	G		3.02263e-06
ZNF836	162962	genome.wustl.edu	37	chr19	52660227	52660227	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctctgtagtatgtaccatctGatggttaataagacttgaag	9	6	2	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:52660227G>C	ENST00000322146.8	-	5	1230	c.709C>G	c.(709-711)Cag>Gag	p.Q237E	ZNF836_ENST00000597252.1_Missense_Mutation_p.Q237E|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTACCATCTGATGGTTAATA	0.393																																																	0													72	75	74					19																	52660227		2142	4276	6418	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.709C>G	19.37:g.52660227G>C	ENSP00000325038:p.Gln237Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q237E	ENST00000322146.8	37	c.709	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327827	0.24080	.	.	ENSG00000196267	ENST00000322146;ENST00000396443	T	0.17854	2.25	1.64	-3.28	0.05033	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19485	0.0468	N	0.25332	0.735	0.09310	N	1	D	0.53619	0.961	P	0.61070	0.883	T	0.14309	-1.0477	9	0.51188	T	0.08	.	6.4439	0.21865	0.0:0.3449:0.4699:0.1853	.	237	Q6ZNA1	ZN836_HUMAN	E	237;35	ENSP00000325038:Q237E	ENSP00000325038:Q237E	Q	-	1	0	ZNF836	57352039	0.008000	0.16893	0.000000	0.03702	0.008000	0.06430	0.979000	0.29500	-1.199000	0.02666	-0.535000	0.04281	CAG	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	G	NM_001102657		52660227	-1	no_errors	ENST00000322146	ensembl	human	known	70_37	missense	SNP	0.003	C	C	52660227	G	C	52660227	3	2	176	1	0	0	0	0	1	0	0	0	18217	1299	45	1	2103	1	ZNF836	19	52660227	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	3453212	52660227	6468756	254	33372										
DEFB132	400830	genome.wustl.edu	37	chr20	238470	238470	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctcggattcctgacccaggtGatcccaggtaaactggataa	10	11	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:238470G>A	ENST00000382376.3	+	1	94	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	17					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGACCCAGGTGATCCCAGGTA	0.532																																																	0													83	72	76					20																	238470		2203	4300	6503	SO:0001819	synonymous_variant	400830			AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"Defensins, beta"	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.51G>A	20.37:g.238470G>A			B2RP72|Q4QY40	Silent	SNP	NULL	p.V17	ENST00000382376.3	37	c.51	CCDS12993.1	20																																																																																			DEFB132	-	NULL		0.532	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB132	HGNC	protein_coding	OTTHUMT00000101365.1	G	NM_207469		238470	1	no_errors	ENST00000382376	ensembl	human	known	70_37	silent	SNP	0.094	A	A	238470	G	A	238470	2	1	176	1	0	0	0	0	0	0	0	1	4427	1277	45	1		1	DEFB132	20	238470	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		238470	62787050	255	33373										
FAM113A	64773	genome.wustl.edu	37	chr20	2816949	2816949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	attcatctctgcccagtcctCaatccacgggtctaggaatg	8	13	4	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:2816949C>T	ENST00000360652.2	-	7	1355	c.853G>A	c.(853-855)Gag>Aag	p.E285K	PCED1A_ENST00000356872.3_Missense_Mutation_p.E234K	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	285																	GCCCAGTCCTCAATCCACGGG	0.552																																																	0													101	100	101					20																	2816949		2203	4300	6503	SO:0001583	missense	64773			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.853G>A	20.37:g.2816949C>T	ENSP00000353868:p.Glu285Lys		Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.E285K	ENST00000360652.2	37	c.853	CCDS13035.1	20	.	.	.	.	.	.	.	.	.	.	C	8.024	0.760190	0.15846	.	.	ENSG00000132635	ENST00000356872;ENST00000360652	T;T	0.44482	0.92;0.92	3.67	2.72	0.32119	.	0.731256	0.12780	N	0.439771	T	0.20088	0.0483	N	0.08118	0	0.27841	N	0.941119	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.09377	0.002;0.001;0.002;0.004	T	0.19192	-1.0313	10	0.19147	T	0.46	-4.3585	7.2173	0.25967	0.0:0.8785:0.0:0.1215	.	234;281;132;285	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	K	234;285	ENSP00000349334:E234K;ENSP00000353868:E285K	ENSP00000349334:E234K	E	-	1	0	FAM113A	2764949	0.980000	0.34600	1.000000	0.80357	0.985000	0.73830	1.021000	0.30040	1.120000	0.41904	0.561000	0.74099	GAG	PCED1A	-	NULL		0.552	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	HGNC	protein_coding	OTTHUMT00000077676.2	C	NM_022760		2816949	-1	no_errors	ENST00000360652	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2816949	C	T	2816949	3	4	176	1	0	0	0	0	1	0	0	0	5416	835	29	1	519	1	FAM113A	20	2816949	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	2578479	2816949	60208571	256	33374										
C20orf103	24141	genome.wustl.edu	37	chr20	9496676	9496676	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gaacaggccgatatcgcattGacccggggagctgaggtgaa	15	9	0	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:9496676G>C	ENST00000246070.2	+	3	759	c.267G>C	c.(265-267)ttG>ttC	p.L89F	RP5-1119D9.4_ENST00000443469.1_RNA|LAMP5_ENST00000427562.2_Intron	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	89						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											ATATCGCATTGACCCGGGGAG	0.647																																																	0													34	34	34					20																	9496676		2203	4300	6503	SO:0001583	missense	24141			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.267G>C	20.37:g.9496676G>C	ENSP00000246070:p.Leu89Phe		B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop	p.L89F	ENST00000246070.2	37	c.267	CCDS13106.1	20	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271867	0.59649	.	.	ENSG00000125869	ENST00000246070	T	0.32753	1.44	6.08	2.95	0.34219	.	0.068412	0.64402	D	0.000019	T	0.23926	0.0579	L	0.32530	0.975	0.80722	D	1	P	0.45672	0.864	P	0.47528	0.549	T	0.02417	-1.1162	9	.	.	.	-9.61	3.9824	0.09501	0.1433:0.1058:0.5701:0.1809	.	89	Q9UJQ1	CT103_HUMAN	F	89	ENSP00000246070:L89F	.	L	+	3	2	C20orf103	9444676	1.000000	0.71417	0.994000	0.49952	0.820000	0.46376	0.969000	0.29370	1.597000	0.50072	0.655000	0.94253	TTG	LAMP5	-	pfam_Lysosome-assoc_membr_glycop		0.647	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP5	HGNC	protein_coding	OTTHUMT00000077946.2	G	NM_012261		9496676	1	no_errors	ENST00000246070	ensembl	human	known	70_37	missense	SNP	0.976	C	C	9496676	G	C	9496676	3	2	176	1	0	0	0	0	1	0	0	0	2080	1281	45	1	277	1	C20orf103	20	9496676	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	6679727	9496676	53528844	257	33375										
CRNKL1	51340	genome.wustl.edu	37	chr20	20033073	20033073	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	caccgaaaccacaaagctttCagaaaacaaacaggatctcg	6	12	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:20033073C>T	ENST00000377340.2	-	2	428	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	C20orf26_ENST00000245957.5_5'Flank|CRNKL1_ENST00000536226.1_5'UTR|C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000389656.3_5'Flank|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E121K|C20orf26_ENST00000377306.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	133					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ACAAAGCTTTCAGAAAACAAA	0.582																																																	0													72	73	73					20																	20033073		2203	4300	6503	SO:0001583	missense	51340			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.397G>A	20.37:g.20033073C>T	ENSP00000366557:p.Glu133Lys		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.E133K	ENST00000377340.2	37	c.397	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137684	0.37728	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.30182	1.54;1.54	5.07	3.14	0.36123	.	2.510670	0.01708	N	0.027532	T	0.20618	0.0496	N	0.08118	0	0.24587	N	0.993844	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.23440	-1.0188	10	0.87932	D	0	0.1442	7.8113	0.29232	0.0:0.811:0.0:0.189	.	121;133	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	K	121;133	ENSP00000366544:E121K;ENSP00000366557:E133K	ENSP00000366544:E121K	E	-	1	0	CRNKL1	19981073	0.028000	0.19301	0.002000	0.10522	0.007000	0.05969	0.497000	0.22514	0.723000	0.32274	0.655000	0.94253	GAA	CRNKL1	-	NULL		0.582	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	C			20033073	-1	no_errors	ENST00000377340	ensembl	human	known	70_37	missense	SNP	0.004	T	T	20033073	C	T	20033073	3	4	176	1	0	0	0	0	1	0	0	0	3896	835	29	1	2205	1	CRNKL1	20	20033073	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	10536397	20033073	42992447	258	33376										
ADA	100	genome.wustl.edu	37	chr20	43248486	43248486	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtggcgtcttcagaggttctGccctgctcgttggttcagag	14	10	4	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:43248486G>A	ENST00000372874.4	-	12	1215	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|Z97053.1_ENST00000597250.1_5'Flank|ADA_ENST00000537820.1_Nonsense_Mutation_p.Q337*	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	361					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CAGAGGTTCTGCCCTGCTCGT	0.473									Adenosine Deaminase Deficiency																																								0													89	78	82					20																	43248486		2203	4300	6503	SO:0001587	stop_gained	100	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.1081C>T	20.37:g.43248486G>A	ENSP00000361965:p.Gln361*		Q53F92|Q6LA59	Nonsense_Mutation	SNP	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	p.Q361*	ENST00000372874.4	37	c.1081	CCDS13335.1	20	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036683	0.35893	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	.	.	.	3.97	3.0	0.34707	.	0.748339	0.11583	N	0.549529	.	.	.	.	.	.	0.31819	N	0.626283	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-13.9415	8.8792	0.35365	0.0:0.0:0.7523:0.2477	.	.	.	.	X	361;337	.	ENSP00000361965:Q361X	Q	-	1	0	ADA	42681900	0.001000	0.12720	0.896000	0.35187	0.024000	0.10985	0.026000	0.13599	1.213000	0.43380	-0.274000	0.10170	CAG	ADA	-	NULL		0.473	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2	G	NM_000022		43248486	-1	no_errors	ENST00000372874	ensembl	human	known	70_37	nonsense	SNP	0.892	A	A	43248486	G	A	43248486	4	1	176	1	0	0	0	0	0	1	0	0	230	1328	46	4	14	4	ADA	20	43248486	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	23215413	43248486	19777034	259	33377										
WFDC10A	140832	genome.wustl.edu	37	chr20	44258464	44258464	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	atcagagtcatggcaccccaGactctgctgcctgtcctggt	10	14	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:44258464G>A	ENST00000372643.3	+	1	300	c.12G>A	c.(10-12)caG>caA	p.Q4Q	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	4						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				TGGCACCCCAGACTCTGCTGC	0.562											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													113	87	96					20																	44258464		2203	4300	6503	SO:0001819	synonymous_variant	140832			AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"WAP four-disulfide core domain containing"	16139	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 146"	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.12G>A	20.37:g.44258464G>A		922	A2RRE9|Q5TGZ7	Silent	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core	p.Q4	ENST00000372643.3	37	c.12	CCDS13363.1	20																																																																																			WFDC10A	-	NULL		0.562	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC10A	HGNC	protein_coding	OTTHUMT00000106944.2	G			44258464	1	no_errors	ENST00000372643	ensembl	human	known	70_37	silent	SNP	0.042	A	A	44258464	G	A	44258464	2	1	176	1	0	0	0	0	0	0	0	1	17378	933	33	1		1	WFDC10A	20	44258464	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1009978	44258464	18767056	260	33378										
PREX1	57580	genome.wustl.edu	37	chr20	47260976	47260976	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tctcgtcgctgcccaagtagGagctgttacttctcacgctg	10	13	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:47260976G>C	ENST00000371941.3	-	27	3594	c.3572C>G	c.(3571-3573)tCc>tGc	p.S1191C	PREX1_ENST00000496915.1_5'Flank|PREX1_ENST00000396220.1_Missense_Mutation_p.S1191C	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1191					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCAAGTAGGAGCTGTTACT	0.562																																																	0													100	78	85					20																	47260976		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3572C>G	20.37:g.47260976G>C	ENSP00000361009:p.Ser1191Cys		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S1191C	ENST00000371941.3	37	c.3572	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804205	0.90623	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.58797	0.31;0.31	5.14	5.14	0.70334	.	0.000000	0.53938	U	0.000050	T	0.75635	0.3876	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78505	-0.2178	10	0.87932	D	0	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	1191;488	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	C	1191	ENSP00000361009:S1191C;ENSP00000379522:S1191C	ENSP00000361009:S1191C	S	-	2	0	PREX1	46694383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.398000	0.81561	0.655000	0.94253	TCC	PREX1	-	NULL		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47260976	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47260976	G	C	47260976	3	2	176	1	0	0	0	0	1	0	0	0	12503	1174	41	1	1463	1	PREX1	20	47260976	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	3002512	47260976	15764544	261	33379										
PHACTR3	116154	genome.wustl.edu	37	chr20	58381200	58381200	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acattttccccagaaggactGatgaagaaagacaggagatc	10	8	0	6			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:58381200G>C	ENST00000371015.1	+	8	1746	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	PHACTR3_ENST00000395636.2_Missense_Mutation_p.D386H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.D386H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D386H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D316H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D316H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D424H	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	427						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGAAGGACTGATGAAGAAAG	0.557																																																	0													100	106	104					20																	58381200		2203	4300	6503	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1279G>C	20.37:g.58381200G>C	ENSP00000360054:p.Asp427His		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.D427H	ENST00000371015.1	37	c.1279	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434806	0.43224	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.36157	1.62;1.64;1.27;1.63;1.63;1.63;1.27	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.67900	0.954;0.954;0.928	T	0.57694	-0.7767	10	0.87932	D	0	-13.3875	13.22	0.59881	0.0787:0.0:0.9213:0.0	.	316;427;424	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	H	424;427;316;386;386;386;316	ENSP00000353002:D424H;ENSP00000360054:D427H;ENSP00000379001:D316H;ENSP00000442483:D386H;ENSP00000347866:D386H;ENSP00000378998:D386H;ENSP00000354555:D316H	ENSP00000347866:D386H	D	+	1	0	PHACTR3	57814595	1.000000	0.71417	0.016000	0.15963	0.038000	0.13279	8.030000	0.88816	2.460000	0.83146	0.650000	0.86243	GAT	PHACTR3	-	NULL		0.557	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	G	NM_080672		58381200	1	no_errors	ENST00000371015	ensembl	human	known	70_37	missense	SNP	0.985	C	C	58381200	G	C	58381200	3	2	176	1	0	0	0	0	1	0	0	0	11835	1290	45	1	1309	1	PHACTR3	20	58381200	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	11120224	58381200	4644320	262	33380										
DIDO1	11083	genome.wustl.edu	37	chr20	61525382	61525382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agcactttctaggcctggctCagaggcaacttcaggcacag	11	12	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:61525382C>T	ENST00000266070.4	-	12	3062	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K	DIDO1_ENST00000395335.2_Missense_Mutation_p.E913K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E913K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E913K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	913					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCCTGGCTCAGAGGCAACT	0.552																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													97	94	95					20																	61525382		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2737G>A	20.37:g.61525382C>T	ENSP00000266070:p.Glu913Lys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E913K	ENST00000266070.4	37	c.2737	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164746	0.57476	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12255	3.01;3.01;2.7;2.7	6.17	6.17	0.99709	.	0.157526	0.28853	N	0.013937	T	0.21590	0.0520	M	0.69823	2.125	0.58432	D	0.999999	P;P	0.46142	0.873;0.799	P;B	0.44990	0.466;0.276	T	0.01725	-1.1287	10	0.17369	T	0.5	-22.2079	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	913;913	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	K	913	ENSP00000266070:E913K;ENSP00000378752:E913K;ENSP00000378749:E913K;ENSP00000378744:E913K	ENSP00000266070:E913K	E	-	1	0	DIDO1	60995827	0.051000	0.20477	0.012000	0.15200	0.003000	0.03518	3.253000	0.51469	2.941000	0.99782	0.655000	0.94253	GAG	DIDO1	-	NULL		0.552	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61525382	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.026	T	T	61525382	C	T	61525382	3	4	176	1	0	0	0	0	1	0	0	0	4532	835	29	1	4034	1	DIDO1	20	61525382	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	3144182	61525382	1500138	263	33381										
EEF1A2	1917	genome.wustl.edu	37	chr20	62121960	62121960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gttgtcgccgggcagagcttCgctcagagcctcgtggtgca	15	12	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:62121960C>T	ENST00000298049.7	-	5	971	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	EEF1A2_ENST00000217182.3_Missense_Mutation_p.E301K			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	301					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GGCAGAGCTTCGCTCAGAGCC	0.622																																																	0													107	96	100					20																	62121960		2200	4294	6494	SO:0001583	missense	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.901G>A	20.37:g.62121960C>T	ENSP00000298049:p.Glu301Lys		B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.E301K	ENST00000298049.7	37	c.901	CCDS13522.1	20	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625125	0.66901	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.70749	-0.51;-0.51	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.82132	2.575	0.80722	D	1	D;B	0.61080	0.989;0.054	D;B	0.71656	0.974;0.117	D	0.87163	0.2216	10	0.72032	D	0.01	-12.6595	16.0768	0.80974	0.0:1.0:0.0:0.0	.	277;301	Q59GP5;Q05639	.;EF1A2_HUMAN	K	301	ENSP00000298049:E301K;ENSP00000217182:E301K	ENSP00000217182:E301K	E	-	1	0	EEF1A2	61592404	1.000000	0.71417	0.975000	0.42487	0.586000	0.36452	7.626000	0.83164	1.847000	0.53656	0.556000	0.70494	GAA	EEF1A2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc		0.622	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A2	HGNC	protein_coding	OTTHUMT00000080495.1	C	NM_001958		62121960	-1	no_errors	ENST00000217182	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62121960	C	T	62121960	3	4	176	1	0	0	0	0	1	0	0	0	4934	893	31	1	502	1	EEF1A2	20	62121960	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	596578	62121960	903560	264	33382										
TPD52L2	7165	genome.wustl.edu	37	chr20	62514094	62514094	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	acaagaagactcaggaaactCtttcacaggcaggacagaag	10	9	3	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:62514094C>T	ENST00000346249.4	+	5	473	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	TPD52L2_ENST00000351424.4_Missense_Mutation_p.L113F|TPD52L2_ENST00000358548.4_Missense_Mutation_p.L113F|TPD52L2_ENST00000217121.5_Missense_Mutation_p.L133F|TPD52L2_ENST00000369927.4_Missense_Mutation_p.L90F|TPD52L2_ENST00000352482.4_Missense_Mutation_p.L133F|TPD52L2_ENST00000348257.5_Missense_Mutation_p.L113F	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	133					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCAGGAAACTCTTTCACAGGC	0.537																																																	0													96	80	85					20																	62514094		2203	4300	6503	SO:0001583	missense	7165			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.397C>T	20.37:g.62514094C>T	ENSP00000343547:p.Leu133Phe		B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	pfam_TPD52	p.L133F	ENST00000346249.4	37	c.397	CCDS13540.1	20	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840826	0.51057	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.55760	0.72;0.89;0.59;0.5;0.75;0.7;0.9	5.15	4.2	0.49525	.	0.138505	0.49916	N	0.000130	T	0.71476	0.3344	M	0.78916	2.43	0.44685	D	0.997678	P;P;P;P;P;D;D;D;P	0.89917	0.924;0.739;0.584;0.584;0.584;0.999;1.0;1.0;0.739	P;P;P;P;P;D;D;D;B	0.97110	0.734;0.614;0.46;0.46;0.46;0.983;0.999;1.0;0.398	T	0.74734	-0.3565	10	0.62326	D	0.03	-8.6774	12.8771	0.57996	0.0:0.9212:0.0:0.0788	.	90;84;133;113;133;113;113;133;133	B4DPJ6;B4DDV4;Q6FGS1;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.;TPD54_HUMAN;.;.;.;.	F	90;133;113;133;113;133;113	ENSP00000358943:L90F;ENSP00000343547:L133F;ENSP00000343554:L113F;ENSP00000344647:L133F;ENSP00000340006:L113F;ENSP00000217121:L133F;ENSP00000351350:L113F	ENSP00000217121:L133F	L	+	1	0	TPD52L2	61984538	0.983000	0.35010	0.066000	0.19879	0.287000	0.27160	2.652000	0.46682	1.168000	0.42723	0.561000	0.74099	CTT	TPD52L2	-	pfam_TPD52		0.537	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L2	HGNC	protein_coding	OTTHUMT00000080248.1	C			62514094	1	no_errors	ENST00000217121	ensembl	human	known	70_37	missense	SNP	0.961	T	T	62514094	C	T	62514094	3	4	176	1	0	0	0	0	1	0	0	0	16430	913	32	1	415	1	TPD52L2	20	62514094	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	392134	62514094	511426	265	33383										
PFKL	5211	genome.wustl.edu	37	chr21	45733844	45733844	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcaggggccgactggctgttCatccccgaggctccacccga	12	16	2	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr21:45733844C>T	ENST00000349048.4	+	7	742	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PFKL_ENST00000403390.1_Silent_p.F276F|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	229	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACTGGCTGTTCATCCCCGAGG	0.687																																																	0													24	24	24					21																	45733844		2191	4291	6482	SO:0001819	synonymous_variant	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.687C>T	21.37:g.45733844C>T			Q96A64|Q96IH4|Q9BR91	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.F276	ENST00000349048.4	37	c.828	CCDS33582.1	21																																																																																			PFKL	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk		0.687	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	HGNC	protein_coding	OTTHUMT00000195805.1	C			45733844	1	no_errors	ENST00000403390	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45733844	C	T	45733844	2	4	176	1	0	0	0	0	0	0	0	1	11788	825	29	1		1	PFKL	21	45733844	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09		45733844	2396051	266	33384										
SGSM1	129049	genome.wustl.edu	37	chr22	25294203	25294203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tggatgacaggcagagcagcGaggccaccacatctcaggat	13	11	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:25294203G>A	ENST00000400359.4	+	20	2459	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_Missense_Mutation_p.E763K	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	818	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGAGCAGCGAGGCCACCAC	0.637																																																	0													33	41	38					22																	25294203		2188	4289	6477	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2452G>A	22.37:g.25294203G>A	ENSP00000383212:p.Glu818Lys		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.E818K	ENST00000400359.4	37	c.2452	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806429	0.31961	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06849	3.26;3.25	5.24	1.93	0.25924	Rab-GAP/TBC domain (2);	0.855129	0.10273	U	0.694579	T	0.02571	0.0078	N	0.04636	-0.2	0.29536	N	0.85245	P;P;B;P	0.44429	0.693;0.835;0.236;0.802	B;B;B;B	0.31016	0.057;0.123;0.017;0.084	T	0.29212	-1.0019	10	0.13853	T	0.58	-21.048	6.601	0.22701	0.1663:0.3015:0.5322:0.0	.	763;818;835;818	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	K	818;763;818	ENSP00000383211:E763K;ENSP00000383212:E818K	ENSP00000383211:E763K	E	+	1	0	SGSM1	23624203	0.000000	0.05858	0.989000	0.46669	0.928000	0.56348	0.064000	0.14437	0.706000	0.31912	-0.274000	0.10170	GAG	SGSM1	-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.637	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	G	XM_059318		25294203	1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	0.823	A	A	25294203	G	A	25294203	3	1	176	1	0	0	0	0	1	0	0	0	14252	1059	37	1	2530	1	SGSM1	22	25294203	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		25294203	26010363	267	33385										
TPST2	8459	genome.wustl.edu	37	chr22	26936758	26936758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcaggggctccactcacttgGacagggagacaccaccgggc	13	14	2	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:26936758G>A	ENST00000338754.4	-	3	1109	c.839C>T	c.(838-840)tCc>tTc	p.S280F	TPST2_ENST00000398110.2_Missense_Mutation_p.S280F|TPST2_ENST00000403880.1_Missense_Mutation_p.S280F	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	280					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CACTCACTTGGACAGGGAGAC	0.597																																																	0													33	35	35					22																	26936758		2203	4300	6503	SO:0001583	missense	8459			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.839C>T	22.37:g.26936758G>A	ENSP00000339813:p.Ser280Phe		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.S280F	ENST00000338754.4	37	c.839	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468147	0.84533	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000445720	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.73426	0.3585	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78396	-0.2220	10	0.62326	D	0.03	.	17.7308	0.88377	0.0:0.0:1.0:0.0	.	280	O60704	TPST2_HUMAN	F	280;280;280;213;27	ENSP00000339813:S280F;ENSP00000381180:S280F;ENSP00000385192:S280F;ENSP00000403758:S27F	ENSP00000339813:S280F	S	-	2	0	TPST2	25266758	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.119000	0.94362	2.430000	0.82344	0.609000	0.83330	TCC	TPST2	-	NULL		0.597	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	G	NM_003595		26936758	-1	no_errors	ENST00000338754	ensembl	human	known	70_37	missense	SNP	1.000	A	A	26936758	G	A	26936758	3	1	176	1	0	0	0	0	1	0	0	0	16459	1174	41	1	310	1	TPST2	22	26936758	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1642555	26936758	24367808	268	33386										
GGA1	26088	genome.wustl.edu	37	chr22	38019460	38019460	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gcgcagcagctggcagcagcGaggacctcatgaaggtgcac	15	12	1	1	rs368649058		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:38019460G>T	ENST00000343632.4	+	8	1122	c.736G>T	c.(736-738)Gag>Tag	p.E246*	GGA1_ENST00000406772.1_Nonsense_Mutation_p.E173*|GGA1_ENST00000337437.4_Nonsense_Mutation_p.E213*|GGA1_ENST00000381756.5_Nonsense_Mutation_p.E263*|GGA1_ENST00000325180.8_Nonsense_Mutation_p.E246*	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	246	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TGGCAGCAGCGAGGACCTCAT	0.637											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													129	105	114					22																	38019460		2203	4300	6503	SO:0001587	stop_gained	26088			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.736G>T	22.37:g.38019460G>T	ENSP00000341344:p.Glu246*	875	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Nonsense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.E246*	ENST00000343632.4	37	c.736	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.161536	0.97338	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772	.	.	.	4.92	4.92	0.64577	.	0.268169	0.40469	N	0.001085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-30.2844	18.1031	0.89512	0.0:0.0:1.0:0.0	.	.	.	.	X	246;263;246;213;238;173	.	ENSP00000321288:E246X	E	+	1	0	GGA1	36349406	1.000000	0.71417	0.996000	0.52242	0.752000	0.42762	4.285000	0.58989	2.285000	0.76669	0.462000	0.41574	GAG	GGA1	-	pfam_GAT,pfscan_GAT		0.637	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	G	NM_013365		38019460	1	no_errors	ENST00000343632	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	38019460	G	T	38019460	4	4	176	1	0	0	0	0	0	1	0	0	6371	1059	37	3	832	3	GGA1	22	38019460	Nonsense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	11082702	38019460	13285106	269	33387										
PLA2G6	8398	genome.wustl.edu	37	chr22	38512122	38512122	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctgaggttaacgttctggttGaaacgaggctcccggacagt	13	9	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:38512122G>A	ENST00000332509.3	-	13	2022	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	PLA2G6_ENST00000402064.1_Silent_p.F559F|PLA2G6_ENST00000335539.3_Silent_p.F559F	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	613	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CGTTCTGGTTGAAACGAGGCT	0.582																																																	0													78	73	75					22																	38512122		2203	4300	6503	SO:0001819	synonymous_variant	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1839C>T	22.37:g.38512122G>A			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F613	ENST00000332509.3	37	c.1839	CCDS13967.1	22																																																																																			PLA2G6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.582	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	G	NM_001004426		38512122	-1	no_errors	ENST00000332509	ensembl	human	known	70_37	silent	SNP	0.006	A	A	38512122	G	A	38512122	2	1	176	1	0	0	0	0	0	0	0	1	12032	1281	45	1		1	PLA2G6	22	38512122	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	492662	38512122	12792444	270	33388										
TNRC6B	23112	genome.wustl.edu	37	chr22	40662236	40662236	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agaactcagggggctggggaGatgcacccagccaaagcaat	14	10	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:40662236G>A	ENST00000454349.2	+	5	2213	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.D668N	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	668	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGGCTGGGGAGATGCACCCAG	0.557																																																	0													18	21	20					22																	40662236		1922	4123	6045	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2002G>A	22.37:g.40662236G>A	ENSP00000401946:p.Asp668Asn		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.D668N	ENST00000454349.2	37	c.2002	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497565	0.44455	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.14022	2.55;2.54	5.43	5.43	0.79202	.	0.048878	0.85682	D	0.000000	T	0.27559	0.0677	L	0.33245	0.995	0.45076	D	0.998091	D;D;D	0.69078	0.997;0.993;0.996	D;D;D	0.77557	0.98;0.977;0.99	T	0.01734	-1.1285	10	0.22109	T	0.4	-8.17	19.2242	0.93812	0.0:0.0:1.0:0.0	.	668;668;668	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	N	668	ENSP00000401946:D668N;ENSP00000338371:D668N	ENSP00000338371:D668N	D	+	1	0	TNRC6B	38992182	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.315000	0.59172	2.559000	0.86315	0.313000	0.20887	GAT	TNRC6B	-	NULL		0.557	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		G			40662236	1	no_errors	ENST00000454349	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40662236	G	A	40662236	3	1	176	1	0	0	0	0	1	0	0	0	16371	942	33	1	2141	1	TNRC6B	22	40662236	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2150114	40662236	10642330	271	33389										
EP300	2033	genome.wustl.edu	37	chr22	41545129	41545129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcccatcacagggaatgaatGtaacaaatatccctttggct	7	10	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:41545129G>A	ENST00000263253.7	+	13	3548	c.2329G>A	c.(2329-2331)Gta>Ata	p.V777I		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	777					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGGAATGAATGTAACAAATAT	0.443			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													144	123	130					22																	41545129		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2329G>A	22.37:g.41545129G>A	ENSP00000263253:p.Val777Ile		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.V777I	ENST00000263253.7	37	c.2329	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742264	0.69418	.	.	ENSG00000100393	ENST00000263253	D	0.83591	-1.74	5.5	4.43	0.53597	.	0.409802	0.17285	N	0.179850	D	0.82296	0.5006	L	0.52011	1.625	0.30038	N	0.81288	D	0.53745	0.962	P	0.51918	0.684	T	0.76626	-0.2890	10	0.26408	T	0.33	-8.192	10.4238	0.44365	0.0724:0.2356:0.692:0.0	.	777	Q09472	EP300_HUMAN	I	777	ENSP00000263253:V777I	ENSP00000263253:V777I	V	+	1	0	EP300	39875075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.975000	0.40569	2.599000	0.87857	0.655000	0.94253	GTA	EP300	-	NULL		0.443	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41545129	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41545129	G	A	41545129	3	1	176	1	0	0	0	0	1	0	0	0	5160	1377	48	4	2379	4	EP300	22	41545129	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	882893	41545129	9759437	272	33390										
SAPS2	9701	genome.wustl.edu	37	chr22	50876641	50876641	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gaggcctgctgcagtgaccgCatccagccctttgatgatga	12	12	0	4			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:50876641C>A	ENST00000216061.5	+	19	2248	c.1878C>A	c.(1876-1878)cgC>cgA	p.R626R	PPP6R2_ENST00000395741.3_Silent_p.R600R|PPP6R2_ENST00000359139.3_Silent_p.R599R|PPP6R2_ENST00000395744.3_Silent_p.R599R			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	626						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GCAGTGACCGCATCCAGCCCT	0.627																																																	0													112	111	112					22																	50876641		2203	4300	6503	SO:0001819	synonymous_variant	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1878C>A	22.37:g.50876641C>A			A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.R626	ENST00000216061.5	37	c.1878		22																																																																																			PPP6R2	-	NULL		0.627	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	C	NM_014678		50876641	1	no_errors	ENST00000216061	ensembl	human	known	70_37	silent	SNP	0.992	A	A	50876641	C	A	50876641	2	1	176	1	0	0	0	0	0	0	0	1	13867	697	25	4		4	SAPS2	22	50876641	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	9331512	50876641	427925	273	33391										
HDHD1A	8226	genome.wustl.edu	37	chrX	6975800	6975800	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tacacagaaggaggagcgctGagaagggatcccggcagccc	15	11	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:6975800G>A	ENST00000381077.5	-	4	587				HDHD1_ENST00000424830.2_Intron|HDHD1_ENST00000540122.1_Missense_Mutation_p.S192L|HDHD1_ENST00000412827.2_Intron	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1						nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						GAGGAGCGCTGAGAAGGGATC	0.572																																																	0																																										SO:0001627	intron_variant	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.511-7287C>T	X.37:g.6975800G>A			B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom	p.S192L	ENST00000381077.5	37	c.575	CCDS48075.1	X	.	.	.	.	.	.	.	.	.	.	G	3.745	-0.052828	0.07362	.	.	ENSG00000130021	ENST00000540122	T	0.32515	1.45	1.41	0.524	0.17066	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28964	-1.0027	7	.	.	.	.	3.5427	0.07818	0.2703:0.0:0.7297:0.0	.	192	Q08623-3	.	L	192	ENSP00000441208:S192L	.	S	-	2	0	HDHD1	6985800	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	0.404000	0.20999	0.109000	0.17891	-0.198000	0.12761	TCA	HDHD1	-	NULL		0.572	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	G	NM_012080		6975800	-1	no_errors	ENST00000540122	ensembl	human	known	70_37	missense	SNP	0.001	A	A	6975800	G	A	6975800	1	1	176	0	1	0	0	0	0	0	0	0	7042	1294	45	1		1	HDHD1A	23	6975800	Intron	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09		6975800	148294760	274	33392										
MAGEB16	139604	genome.wustl.edu	37	chrX	35820353	35820353	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gtccacgatgcacacatgatCagcaccttcagaccttcagt	7	14	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:35820353C>T	ENST00000399989.1	+	2	319	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	MAGEB16_ENST00000399988.1_Nonsense_Mutation_p.Q14*|MAGEB16_ENST00000399992.1_Nonsense_Mutation_p.Q46*|MAGEB16_ENST00000399987.1_Nonsense_Mutation_p.Q14*|MAGEB16_ENST00000399985.1_Nonsense_Mutation_p.Q14*	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	14										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CACACATGATCAGCACCTTCA	0.567																																																	0													51	52	52					X																	35820353		2117	4213	6330	SO:0001587	stop_gained	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.40C>T	X.37:g.35820353C>T	ENSP00000382871:p.Gln14*		A8MU30	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Q46*	ENST00000399989.1	37	c.136	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494557	0.44352	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	.	.	.	3.02	-1.47	0.08772	.	1.435870	0.04322	N	0.350821	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8724	0.24129	0.1754:0.3438:0.4808:0.0	.	.	.	.	X	14;46;14;14;14	.	ENSP00000382867:Q14X	Q	+	1	0	MAGEB16	35730274	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.234000	0.09028	-0.448000	0.07128	-0.362000	0.07510	CAG	MAGEB16	-	pfam_Melanoma_ass_antigen_N		0.567	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	C			35820353	1	no_errors	ENST00000399992	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	35820353	C	T	35820353	4	4	176	1	0	0	0	0	0	1	0	0	9197	827	29	1	42	1	MAGEB16	23	35820353	Nonsense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	28844553	35820353	119450207	275	33393										
FAM47C	442444	genome.wustl.edu	37	chrX	37028659	37028659	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctgagagtcgcgtatctcatCtctgcccggagcctcctgag	11	14	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:37028659C>G	ENST00000358047.3	+	1	2228	c.2176C>G	c.(2176-2178)Ctc>Gtc	p.L726V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	726										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGTATCTCATCTCTGCCCGGA	0.637																																																	0													49	47	48					X																	37028659		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2176C>G	X.37:g.37028659C>G	ENSP00000367913:p.Leu726Val		Q6ZU46	Missense_Mutation	SNP	NULL	p.L726V	ENST00000358047.3	37	c.2176	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	-	1.329	-0.597312	0.03771	.	.	ENSG00000198173	ENST00000358047	T	0.21031	2.03	1.06	-2.11	0.07187	.	.	.	.	.	T	0.19846	0.0477	M	0.79475	2.455	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.33420	-0.9869	9	0.29301	T	0.29	.	3.4232	0.07401	0.0:0.2759:0.4743:0.2498	.	726	Q5HY64	FA47C_HUMAN	V	726	ENSP00000367913:L726V	ENSP00000367913:L726V	L	+	1	0	FAM47C	36938580	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.596000	0.24044	-0.622000	0.05626	-0.632000	0.03989	CTC	FAM47C	-	NULL		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	C	NM_001013736		37028659	1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.000	G	G	37028659	C	G	37028659	3	3	176	1	0	0	0	0	1	0	0	0	5589	913	32	1	2178	1	FAM47C	23	37028659	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	1208306	37028659	118241901	276	33394										
CCDC120	90060	genome.wustl.edu	37	chrX	48924808	48924808	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tccgatcgcgcctccctcttCgtagctcgcacccgccgcag	9	20	1	0	rs373591820		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:48924808C>T	ENST00000376396.3	+	10	1272	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CCDC120_ENST00000422185.2_Silent_p.F351F|CCDC120_ENST00000603986.1_Silent_p.F386F|CCDC120_ENST00000496529.2_Silent_p.F351F|CCDC120_ENST00000597275.1_Silent_p.F351F|CCDC120_ENST00000536628.2_Silent_p.F339F	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	351										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCTCCCTCTTCGTAGCTCGCA	0.701																																																	0								C	,,,	1,3824		0,1,1627,569	18	19	18		1053,1017,1017,1053	1.6	1	X		18	0,6689		0,0,2421,1847	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CCDC120	NM_001163321.1,NM_001163322.1,NM_001163323.1,NM_033626.2	,,,	0,1,4048,2416	TT,TC,CC,C		0.0,0.0261,0.0095	,,,	351/662,339/650,339/619,351/631	48924808	1,10513	2197	4268	6465	SO:0001819	synonymous_variant	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1053C>T	X.37:g.48924808C>T			B4DFC1|B4DTU2|F5GZU4	Silent	SNP	pfam_DUF3338	p.F351	ENST00000376396.3	37	c.1053	CCDS14316.1	X																																																																																			CCDC120	-	NULL		0.701	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	C	NM_033626		48924808	1	no_errors	ENST00000422185	ensembl	human	known	70_37	silent	SNP	0.858	T	T	48924808	C	T	48924808	2	4	176	1	0	0	0	0	0	0	0	1	2761	883	31	1		1	CCDC120	23	48924808	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	11896149	48924808	106345752	277	33395										
GAGE10	643832	genome.wustl.edu	37	chrX	49173691	49173691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	caggttcacccaaagactggGtgtgagtgtggagatggtcc	15	8	1	3	rs368704784		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:49173691G>A	ENST00000407599.3	+	4	345	c.252G>A	c.(250-252)ggG>ggA	p.G84G		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	84										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CAAAGACTGGGTGTGAGTGTG	0.453																																																	0													136	137	137					X																	49173691		2203	4300	6503	SO:0001819	synonymous_variant	102724473					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.252G>A	X.37:g.49173691G>A				Silent	SNP	pfam_GAGE	p.G84	ENST00000407599.3	37	c.252	CCDS43938.1	X																																																																																			GAGE10	-	pfam_GAGE		0.453	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	GAGE10	HGNC	protein_coding	OTTHUMT00000060816.1	G	NM_001098413		49173691	1	no_errors	ENST00000407599	ensembl	human	known	70_37	silent	SNP	0.000	A	A	49173691	G	A	49173691	2	1	176	1	0	0	0	0	0	0	0	1	6205	1248	44	4		4	GAGE10	23	49173691	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	248883	49173691	106096869	278	33396										
STARD8	9754	genome.wustl.edu	37	chrX	67940224	67940224	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	agccactgccacagagcattCagcaagccatgcgctacttg	9	14	1	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:67940224C>T	ENST00000252336.6	+	7	2140	c.1768C>T	c.(1768-1770)Cag>Tag	p.Q590*	STARD8_ENST00000374597.3_Nonsense_Mutation_p.Q590*|STARD8_ENST00000374599.3_Nonsense_Mutation_p.Q670*	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	590	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACAGAGCATTCAGCAAGCCAT	0.652																																																	0													30	22	25					X																	67940224		2199	4286	6485	SO:0001587	stop_gained	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1768C>T	X.37:g.67940224C>T	ENSP00000252336:p.Gln590*		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Nonsense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.Q670*	ENST00000252336.6	37	c.2008	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.642923	0.99227	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	.	.	.	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.1523	0.59496	0.0:1.0:0.0:0.0	.	.	.	.	X	590;670;590	.	ENSP00000252336:Q590X	Q	+	1	0	STARD8	67856949	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.232000	0.78116	1.957000	0.56846	0.600000	0.82982	CAG	STARD8	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.652	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	C	NM_014725		67940224	1	no_errors	ENST00000374599	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	67940224	C	T	67940224	4	4	176	1	0	0	0	0	0	1	0	0	15293	827	29	1	2038	1	STARD8	23	67940224	Nonsense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	18766533	67940224	87330336	279	33397										
CYLC1	1538	genome.wustl.edu	37	chrX	83128502	83128502	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gatgaatccataaattttgaTgcatggttaaggaattactc	8	5	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:83128502T>C	ENST00000329312.4	+	4	823	c.786T>C	c.(784-786)gaT>gaC	p.D262D		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	262					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAAATTTTGATGCATGGTTAA	0.308																																																	0													39	37	37					X																	83128502		2193	4293	6486	SO:0001819	synonymous_variant	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.786T>C	X.37:g.83128502T>C			A0AVQ8|Q5JQQ9	Silent	SNP	NULL	p.D262	ENST00000329312.4	37	c.786	CCDS35341.1	X																																																																																			CYLC1	-	NULL		0.308	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	T	NM_021118		83128502	1	no_errors	ENST00000329312	ensembl	human	known	70_37	silent	SNP	0.000	C	C	83128502	T	C	83128502	2	2	176	1	0	0	0	0	0	0	0	1	4146	1461	51	5		5	CYLC1	23	83128502	Silent	SNP	T	TCGA-MY-A5BD-01A-11D-A26G-09	15188278	83128502	72142058	280	33398										
ARL13A	392509	genome.wustl.edu	37	chrX	100245555	100245555	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tatatctatattctagccatCaaatcaatcctatactcact	1	11	5	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:100245555C>G	ENST00000450049.2	+	8	862	c.749C>G	c.(748-750)tCa>tGa	p.S250*		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	0					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						TTCTAGCCATCAAATCAATCC	0.393																																																	0													173	133	145					X																	100245555		692	1591	2283	SO:0001587	stop_gained	392509				CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	31709	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 13"	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.749C>G	X.37:g.100245555C>G	ENSP00000398637:p.Ser250*		B2RTT6|B4DX50	Nonsense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	p.S250*	ENST00000450049.2	37	c.749	CCDS55463.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.409688|2.409688	0.42715|0.42715	.|.	.|.	ENSG00000174225|ENSG00000174225	ENST00000372953|ENST00000450049	.|.	.|.	.|.	3.72|3.72	1.94|1.94	0.25998|0.25998	.|.	1.655150|.	0.02943|.	N|.	0.140694|.	T|.	0.38295|.	0.1035|.	.|.	.|.	.|.	0.20926|0.20926	N|N	0.999822|0.999822	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37267|.	-0.9713|.	6|.	0.52906|0.87932	T|D	0.07|0	.|.	3.9779|3.9779	0.09483|0.09483	0.233:0.6401:0.0:0.1269|0.233:0.6401:0.0:0.1269	.|.	.|.	.|.	.|.	M|X	126|250	.|.	ENSP00000362044:I126M|ENSP00000398637:S250X	I|S	+|+	3|2	3|0	ARL13A|ARL13A	100132211|100132211	0.017000|0.017000	0.18338|0.18338	0.130000|0.130000	0.21974|0.21974	0.020000|0.020000	0.10135|0.10135	0.331000|0.331000	0.19733|0.19733	0.408000|0.408000	0.25621|0.25621	0.600000|0.600000	0.82982|0.82982	ATC|TCA	ARL13A	-	NULL		0.393	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ARL13A	HGNC	protein_coding	OTTHUMT00000057504.2	C	XM_373358		100245555	1	no_errors	ENST00000450049	ensembl	human	novel	70_37	nonsense	SNP	0.111	G	G	100245555	C	G	100245555	4	3	176	1	0	0	0	0	0	1	0	0	928	838	29	1	908	1	ARL13A	23	100245555	Nonsense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	17117053	100245555	55025005	281	33399										
TRMT2B	79979	genome.wustl.edu	37	chrX	100275544	100275544	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	attcaatcccaaggacccgaGatgtatgctgagccagagag	11	10	1	3			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:100275544G>A	ENST00000372936.3	-	11	1872	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	TRMT2B_ENST00000372935.1_Missense_Mutation_p.S367F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S322F|TRMT2B_ENST00000338687.7_Missense_Mutation_p.S322F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S367F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S367F	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	367						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGGACCCGAGATGTATGCTG	0.448																																																	0													164	136	145					X																	100275544		2203	4300	6503	SO:0001583	missense	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1100C>T	X.37:g.100275544G>A	ENSP00000362027:p.Ser367Phe		A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_Small_mtfrase_dom	p.S367F	ENST00000372936.3	37	c.1100	CCDS14477.1	X	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935402	0.34189	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.57	4.57	0.56435	.	0.546626	0.19127	N	0.122029	T	0.43233	0.1238	L	0.61218	1.895	0.09310	N	1	D;D;D	0.67145	0.996;0.995;0.995	D;D;D	0.64776	0.929;0.926;0.926	T	0.23797	-1.0178	10	0.66056	D	0.02	-12.0462	9.5969	0.39580	0.0:0.0:0.7912:0.2088	.	322;367;367	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	F	322;367;322;367;367;367	ENSP00000340970:S322F;ENSP00000438134:S367F;ENSP00000362030:S322F;ENSP00000362026:S367F;ENSP00000362027:S367F;ENSP00000362022:S367F	ENSP00000340970:S322F	S	-	2	0	TRMT2B	100162200	0.269000	0.24143	0.008000	0.14137	0.401000	0.30781	2.444000	0.44890	2.005000	0.58758	0.600000	0.82982	TCT	TRMT2B	-	pfam_U5_MeTrfase,pfam_Small_mtfrase_dom		0.448	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TRMT2B	HGNC	protein_coding	OTTHUMT00000057512.1	G	NM_024917		100275544	-1	no_errors	ENST00000372935	ensembl	human	known	70_37	missense	SNP	0.003	A	A	100275544	G	A	100275544	3	1	176	1	0	0	0	0	1	0	0	0	16597	942	33	1	430	1	TRMT2B	23	100275544	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	29989	100275544	54995016	282	33400										
TAF7L	54457	genome.wustl.edu	37	chrX	100541591	100541591	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tcaatttttagtttatccttCatcttgacactttgagaacg	5	8	3	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:100541591C>T	ENST00000372907.3	-	3	386	c.375G>A	c.(373-375)atG>atA	p.M125I	TAF7L_ENST00000356784.1_Missense_Mutation_p.M39I|TAF7L_ENST00000372905.2_Missense_Mutation_p.M39I|TAF7L_ENST00000324762.6_Missense_Mutation_p.M39I|Y_RNA_ENST00000410271.1_RNA	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	125					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GTTTATCCTTCATCTTGACAC	0.338																																					Ovarian(104;431 1530 3210 15406 18594)												0													110	85	93					X																	100541591		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.375G>A	X.37:g.100541591C>T	ENSP00000361998:p.Met125Ile		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.M125I	ENST00000372907.3	37	c.375	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204277	0.22205	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.21543	2.55;2.01;2.01;2.0	5.83	-1.86	0.07760	TAFII55 protein, conserved region (1);	0.912686	0.09269	N	0.825405	T	0.13030	0.0316	L	0.35793	1.09	0.09310	N	0.999998	B;B	0.15141	0.012;0.004	B;B	0.16722	0.016;0.003	T	0.36672	-0.9738	10	0.51188	T	0.08	1.3751	1.0002	0.01475	0.2225:0.3366:0.1069:0.3339	.	125;39	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	I	125;39;39;39	ENSP00000361998:M125I;ENSP00000361996:M39I;ENSP00000320283:M39I;ENSP00000349235:M39I	ENSP00000320283:M39I	M	-	3	0	TAF7L	100428247	0.030000	0.19436	0.043000	0.18650	0.005000	0.04900	0.026000	0.13599	-0.249000	0.09569	-0.213000	0.12676	ATG	TAF7L	-	pfam_TAFII55_prot_cons_reg		0.338	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	C			100541591	-1	no_errors	ENST00000372907	ensembl	human	known	70_37	missense	SNP	0.028	T	T	100541591	C	T	100541591	3	4	176	1	0	0	0	0	1	0	0	0	15563	826	29	1	1057	1	TAF7L	23	100541591	Missense_Mutation	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	266047	100541591	54728969	283	33401										
GPRASP2	114928	genome.wustl.edu	37	chrX	101971104	101971104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	cagtttgggggctgtggccaGagaagaggccaagccggagt	18	8	0	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:101971104G>C	ENST00000535209.1	+	4	2138	c.1307G>C	c.(1306-1308)aGa>aCa	p.R436T	GPRASP2_ENST00000543253.1_Missense_Mutation_p.R436T|GPRASP2_ENST00000332262.5_Missense_Mutation_p.R436T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	436						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GCTGTGGCCAGAGAAGAGGCC	0.562																																																	0													85	84	84					X																	101971104		2203	4300	6503	SO:0001583	missense	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1307G>C	X.37:g.101971104G>C	ENSP00000437394:p.Arg436Thr		D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R436T	ENST00000535209.1	37	c.1307	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	G	0.446	-0.896208	0.02472	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07216	3.21;3.21;3.21	4.44	3.58	0.41010	.	0.304119	0.23993	N	0.042552	T	0.06142	0.0159	L	0.29908	0.895	0.20563	N	0.999889	P	0.39216	0.664	B	0.38500	0.275	T	0.31530	-0.9940	10	0.12103	T	0.63	.	9.7201	0.40297	0.1045:0.0:0.8955:0.0	.	436	Q96D09	GASP2_HUMAN	T	436	ENSP00000437872:R436T;ENSP00000437394:R436T;ENSP00000339057:R436T	ENSP00000339057:R436T	R	+	2	0	GPRASP2	101857760	1.000000	0.71417	0.961000	0.40146	0.723000	0.41478	2.476000	0.45171	1.228000	0.43614	0.600000	0.82982	AGA	GPRASP2	-	NULL		0.562	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	G	NM_138437		101971104	1	no_errors	ENST00000332262	ensembl	human	known	70_37	missense	SNP	0.387	C	C	101971104	G	C	101971104	3	2	176	1	0	0	0	0	1	0	0	0	6743	942	33	1	1309	1	GPRASP2	23	101971104	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	1429513	101971104	53299456	284	33402										
ODZ1	10178	genome.wustl.edu	37	chrX	123657466	123657466	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	gagatgccaccgatggccacGaggtcaaagctaagaaggaa	13	9	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:123657466G>A	ENST00000371130.3	-	17	2844	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	TENM1_ENST00000422452.2_Silent_p.L927L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	927					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGATGGCCACGAGGTCAAAGC	0.393																																																	0													45	39	41					X																	123657466		2203	4300	6503	SO:0001819	synonymous_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2781C>T	X.37:g.123657466G>A			B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.L927	ENST00000371130.3	37	c.2781	CCDS14609.1	X																																																																																			TENM1	-	superfamily_CarboxyPept-like_regulatory		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123657466	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	silent	SNP	0.013	A	A	123657466	G	A	123657466	2	1	176	1	0	0	0	0	0	0	0	1	10858	1045	37	1		1	ODZ1	23	123657466	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	21686362	123657466	31613094	285	33403										
GABRE	2564	genome.wustl.edu	37	chrX	151123464	151123464	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ccatcacttccctcagtggtGacaatctggcacacaaaagc	7	14	3	1			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:151123464G>A	ENST00000370328.3	-	9	1283	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	410					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTCAGTGGTGACAATCTGGC	0.617																																																	0													33	27	29					X																	151123464		2203	4299	6502	SO:0001819	synonymous_variant	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1230C>T	X.37:g.151123464G>A			E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V410	ENST00000370328.3	37	c.1230	CCDS14703.1	X																																																																																			GABRE	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAe_rcpt,tigrfam_Neur_channel		0.617	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	G	NM_004961, NM_021990, NM_021984		151123464	-1	no_errors	ENST00000370328	ensembl	human	known	70_37	silent	SNP	0.000	A	A	151123464	G	A	151123464	2	1	176	1	0	0	0	0	0	0	0	1	6188	1277	45	1		1	GABRE	23	151123464	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	27465998	151123464	4147096	286	33404										
TMEM187	8269	genome.wustl.edu	37	chrX	153248290	153248290	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ttccatccctctggcgggaaGacgcgttgaacccagggaag	13	12	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:153248290G>A	ENST00000369982.4	+	2	1524	c.777G>A	c.(775-777)aaG>aaA	p.K259K	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	259						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCGGGAAGACGCGTTGAA	0.527																																																	0													67	61	63					X																	153248290		2202	4299	6501	SO:0001819	synonymous_variant	8269			X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"chromosome X open reading frame 12"	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.777G>A	X.37:g.153248290G>A			B2RC47|Q6IAV7	Silent	SNP	NULL	p.K259	ENST00000369982.4	37	c.777	CCDS14739.1	X																																																																																			TMEM187	-	NULL		0.527	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM187	HGNC	protein_coding	OTTHUMT00000061093.1	G	NM_003492		153248290	1	no_errors	ENST00000369982	ensembl	human	known	70_37	silent	SNP	0.005	A	A	153248290	G	A	153248290	2	1	176	1	0	0	0	0	0	0	0	1	16139	933	33	1		1	TMEM187	23	153248290	Silent	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	2124826	153248290	2022270	287	33405										
PLXNA3	55558	genome.wustl.edu	37	chrX	153694817	153694817	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ctggatgctggcagcagggtCacagtgactgtgagggacag	17	8	1	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:153694817C>T	ENST00000369682.3	+	16	3073	c.2898C>T	c.(2896-2898)gtC>gtT	p.V966V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	966	IPT/TIG 2.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGCAGGGTCACAGTGACTG	0.662																																																	0													52	60	57					X																	153694817		2203	4299	6502	SO:0001819	synonymous_variant	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2898C>T	X.37:g.153694817C>T			Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V966	ENST00000369682.3	37	c.2898	CCDS14752.1	X																																																																																			PLXNA3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153694817	1	no_errors	ENST00000369682	ensembl	human	known	70_37	silent	SNP	0.045	T	T	153694817	C	T	153694817	2	4	176	1	0	0	0	0	0	0	0	1	12145	813	29	1		1	PLXNA3	23	153694817	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	446527	153694817	1575743	288	33406										
FUNDC2	65991	genome.wustl.edu	37	chrX	154282927	154282927	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	ggggatttttcggaggctttCtgcttggcatggcatcctaa	13	8	1	0			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:154282927C>T	ENST00000369498.3	+	5	804	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	184						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L184V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGGCTTTCTGCTTGGCAT	0.448																																																	1	Substitution - Missense(1)	breast(1)											149	137	141					X																	154282927		2203	4300	6503	SO:0001819	synonymous_variant	65991			AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.550C>T	X.37:g.154282927C>T			B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Silent	SNP	pfam_FUN14	p.L184	ENST00000369498.3	37	c.550	CCDS14763.1	X																																																																																			FUNDC2	-	pfam_FUN14		0.448	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC2	HGNC	protein_coding	OTTHUMT00000037641.3	C	NM_023934		154282927	1	no_errors	ENST00000369498	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154282927	C	T	154282927	2	4	176	1	0	0	0	0	0	0	0	1	6116	912	32	1		1	FUNDC2	23	154282927	Silent	SNP	C	TCGA-MY-A5BD-01A-11D-A26G-09	588110	154282927	987633	289	33407										
TMLHE	55217	genome.wustl.edu	37	chrX	154754249	154754249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.541666666666667	156	5.60248578881187e-62	4.22285368484753	5.34912550621607	3.85148838158547	4.13406990549997e-10	1.33668260277832e-08	119	tgagcggcagtggtctcgaaGccagacgtaatcaaagcgca	13	10	2	2			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:154754249G>T	ENST00000334398.3	-	3	371	c.226C>A	c.(226-228)Ctt>Att	p.L76I	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.L76I	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	76					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGGTCTCGAAGCCAGACGTAA	0.423																																																	0													162	141	148					X																	154754249		2202	4300	6502	SO:0001583	missense	55217			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.226C>A	X.37:g.154754249G>T	ENSP00000335261:p.Leu76Ile		A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase	p.L76I	ENST00000334398.3	37	c.226	CCDS14768.1	X	.	.	.	.	.	.	.	.	.	.	G	18.36	3.605937	0.66445	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.95307	-3.67;-3.32	3.81	2.92	0.33932	Domain of unknown function, DUF971 (1);	0.000000	0.64402	D	0.000001	D	0.96592	0.8888	M	0.88105	2.93	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.95518	0.8592	10	0.87932	D	0	-11.7341	4.4379	0.11559	0.2799:0.0:0.7201:0.0	.	76;76;76	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	I	76	ENSP00000335261:L76I;ENSP00000358447:L76I	ENSP00000335261:L76I	L	-	1	0	TMLHE	154407443	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.264000	0.65513	1.834000	0.53371	0.513000	0.50165	CTT	TMLHE	-	pfam_DUF971,tigrfam_Trimethyllysine_dOase		0.423	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMLHE	HGNC	protein_coding	OTTHUMT00000058817.1	G	NM_018196		154754249	-1	no_errors	ENST00000334398	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154754249	G	T	154754249	3	4	176	1	0	0	0	0	1	0	0	0	16262	971	34	4	1203	4	TMLHE	23	154754249	Missense_Mutation	SNP	G	TCGA-MY-A5BD-01A-11D-A26G-09	471322	154754249	516311	290	33408										
ECM1	1893	genome.wustl.edu	37	chr1	150483501	150483501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	cttctccagacaatctgaacCaaatctgccttcctaaccgt	4	15	3	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr1:150483501C>G	ENST00000369047.4	+	6	660	c.535C>G	c.(535-537)Caa>Gaa	p.Q179E	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.Q206E|ECM1_ENST00000346569.6_Missense_Mutation_p.Q179E	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	179	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAATCTGAACCAAATCTGCCT	0.602																																					Melanoma(156;1696 2560 11093 19685)												0													134	142	139					1																	150483501		2203	4300	6503	SO:0001583	missense	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.535C>G	1.37:g.150483501C>G	ENSP00000358043:p.Gln179Glu		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.Q206E	ENST00000369047.4	37	c.616	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431002	0.62844	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.79033	-1.23;-1.23;-1.23	5.04	5.04	0.67666	.	0.179243	0.40144	N	0.001180	T	0.81250	0.4783	M	0.62723	1.935	0.29109	N	0.880982	D;D;D;D;D;D	0.69078	0.992;0.99;0.996;0.997;0.961;0.997	D;D;D;D;P;D	0.80764	0.987;0.979;0.978;0.994;0.652;0.994	T	0.75363	-0.3344	10	0.45353	T	0.12	-14.9399	13.7487	0.62894	0.0:1.0:0.0:0.0	.	101;108;206;179;179;179	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	E	206;179;179	ENSP00000358045:Q206E;ENSP00000358043:Q179E;ENSP00000271630:Q179E	ENSP00000271630:Q179E	Q	+	1	0	ECM1	148750125	0.990000	0.36364	1.000000	0.80357	0.907000	0.53573	2.143000	0.42187	2.640000	0.89533	0.655000	0.94253	CAA	ECM1	-	pfam_ECM1		0.602	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	C	NM_004425		150483501	1	no_errors	ENST00000369049	ensembl	human	known	70_37	missense	SNP	1.000	G	G	150483501	C	G	150483501	3	3	177	1	0	0	0	0	1	0	0	0	4907	595	21	4	557	4	ECM1	1	150483501	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09		150483501	98767120	1	33409										
ASH1L	55870	genome.wustl.edu	37	chr1	155327406	155327406	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	agcttgtgcttagactttctCttctcttttgaccgtccaga	7	11	2	3			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr1:155327406C>T	ENST00000368346.3	-	14	7584	c.6945G>A	c.(6943-6945)aaG>aaA	p.K2315K	RNU6-106P_ENST00000384405.1_RNA|ASH1L_ENST00000392403.3_Silent_p.K2310K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2315					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TAGACTTTCTCTTCTCTTTTG	0.443																																																	0													244	216	226					1																	155327406		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6945G>A	1.37:g.155327406C>T			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K2315	ENST00000368346.3	37	c.6945		1																																																																																			ASH1L	-	superfamily_Bromodomain		0.443	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	C	NM_018489		155327406	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155327406	C	T	155327406	2	4	177	1	0	0	0	0	0	0	0	1	1042	912	32	1		1	ASH1L	1	155327406	Silent	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	4843905	155327406	93923215	2	33410										
SLC19A2	10560	genome.wustl.edu	37	chr1	169437992	169437992	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	tacactgcagcagcaatcagGagagaaaagagagataatgt	11	6	1	3			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr1:169437992G>A	ENST00000236137.5	-	4	1349	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	SLC19A2_ENST00000367804.4_Silent_p.L170L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	371					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CAGCAATCAGGAGAGAAAAGA	0.393																																																	0													174	150	158					1																	169437992		2203	4300	6503	SO:0001819	synonymous_variant	10560			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1113C>T	1.37:g.169437992G>A			B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Silent	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	p.L371	ENST00000236137.5	37	c.1113	CCDS1280.1	1																																																																																			SLC19A2	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier		0.393	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A2	HGNC	protein_coding	OTTHUMT00000086106.1	G	NM_006996		169437992	-1	no_errors	ENST00000236137	ensembl	human	known	70_37	silent	SNP	0.931	A	A	169437992	G	A	169437992	2	1	177	1	0	0	0	0	0	0	0	1	14459	1161	41	1		1	SLC19A2	1	169437992	Silent	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	14110586	169437992	79812629	3	33411										
SIPA1L2	57568	genome.wustl.edu	37	chr1	232581533	232581533	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ggcagagctctgaacaccctCtgttgggccaagaagaaatg	12	10	2	4			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr1:232581533C>G	ENST00000366630.1	-	10	3454		c.e10-1		SIPA1L2_ENST00000262861.4_Splice_Site|SIPA1L2_ENST00000308942.4_Splice_Site			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2						regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGAACACCCTCTGTTGGGCCA	0.547																																																	0													78	80	79					1																	232581533		1931	4116	6047	SO:0001630	splice_region_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3096-1G>C	1.37:g.232581533C>G			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Splice_Site	SNP	-	e9-1	ENST00000366630.1	37	c.3096-1	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772842	0.49680	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.196	0.93689	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIPA1L2	230648156	1.000000	0.71417	0.990000	0.47175	0.323000	0.28346	7.484000	0.81180	2.531000	0.85337	0.650000	0.86243	.	SIPA1L2	-	-		0.547	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839	Intron	232581533	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	232581533	C	G	232581533	5	3	177	1	0	0	0	0	0	0	1	0	14360	927	32	1	2125	1	SIPA1L2	1	232581533	Splice_Site	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	63143541	232581533	16669088	4	33412										
PLEKHH2	130271	genome.wustl.edu	37	chr2	43965569	43965569	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	agtgctttgcaaatctgcctGacacatcctgagctgcagaa	9	11	1	3			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr2:43965569G>C	ENST00000282406.4	+	20	3143	c.3033G>C	c.(3031-3033)ctG>ctC	p.L1011L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1011	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAATCTGCCTGACACATCCTG	0.418																																																	0													93	95	95					2																	43965569		2203	4300	6503	SO:0001819	synonymous_variant	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3033G>C	2.37:g.43965569G>C			Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.L1011	ENST00000282406.4	37	c.3033	CCDS1812.1	2																																																																																			PLEKHH2	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom		0.418	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	G	NM_172069		43965569	1	no_errors	ENST00000282406	ensembl	human	known	70_37	silent	SNP	1.000	C	C	43965569	G	C	43965569	2	2	177	1	0	0	0	0	0	0	0	1	12101	1277	45	1		1	PLEKHH2	2	43965569	Silent	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09		43965569	199233804	5	33413										
SCN7A	6332	genome.wustl.edu	37	chr2	167319021	167319021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	tatgccagcttttacacacaCatatccttcaggacactgac	5	13	1	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr2:167319021C>T	ENST00000409855.1	-	9	1087	c.961G>A	c.(961-963)Gtg>Atg	p.V321M		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	321					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTACACACACATATCCTTCA	0.368																																																	0													68	61	63					2																	167319021		1853	4098	5951	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.961G>A	2.37:g.167319021C>T	ENSP00000386796:p.Val321Met			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.V321M	ENST00000409855.1	37	c.961	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	5.688	0.311521	0.10789	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98234	-4.18;-4.19;-4.81	4.43	-1.04	0.10068	Ion transport (1);	0.536026	0.15387	N	0.265013	D	0.93449	0.7910	L	0.33093	0.98	0.09310	N	1	B	0.34103	0.437	B	0.32805	0.153	D	0.88115	0.2828	10	0.21540	T	0.41	.	4.755	0.13078	0.1456:0.4317:0.0:0.4227	.	321	Q01118	SCN7A_HUMAN	M	321	ENSP00000386796:V321M;ENSP00000413699:V321M;ENSP00000403846:V321M	ENSP00000259060:V321M	V	-	1	0	SCN7A	167027267	0.000000	0.05858	0.154000	0.22540	0.953000	0.61014	-0.675000	0.05227	0.073000	0.16731	-0.237000	0.12165	GTG	SCN7A	-	pfam_Ion_trans_dom		0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	C			167319021	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	missense	SNP	0.013	T	T	167319021	C	T	167319021	3	4	177	1	0	0	0	0	1	0	0	0	13953	478	17	4	4155	4	SCN7A	2	167319021	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	123353452	167319021	75880352	6	33414										
NAB1	4664	genome.wustl.edu	37	chr2	191535149	191535149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	cttggctcgacagatttctcGagaagtcacctataaatata	7	9	2	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr2:191535149G>A	ENST00000337386.5	+	5	1378	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	NAB1_ENST00000409641.1_Missense_Mutation_p.R306Q|NAB1_ENST00000409581.1_Missense_Mutation_p.R306Q|NAB1_ENST00000545490.1_Missense_Mutation_p.R76Q|NAB1_ENST00000357215.5_Missense_Mutation_p.R306Q|NAB1_ENST00000484774.1_Intron	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	306	NCD2.				endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CAGATTTCTCGAGAAGTCACC	0.403																																																	0													90	95	94					2																	191535149		2203	4300	6503	SO:0001583	missense	4664				CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"EGR1 binding protein 1"	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.917G>A	2.37:g.191535149G>A	ENSP00000336894:p.Arg306Gln		O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	pfam_Nab1_C,pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.R306Q	ENST00000337386.5	37	c.917	CCDS2307.1	2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800863	0.90538	.	.	ENSG00000138386	ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641;ENST00000545490	.	.	.	6.06	6.06	0.98353	NAB co-repressor, domain (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.73962	2.25	0.80722	D	1	B;B;B	0.21688	0.003;0.059;0.059	B;B;B	0.18561	0.003;0.022;0.022	T	0.67401	-0.5680	9	0.87932	D	0	-5.5316	19.609	0.95594	0.0:0.0:1.0:0.0	.	306;306;306	F8W8J7;B8ZZS2;Q13506	.;.;NAB1_HUMAN	Q	306;306;306;306;76	.	ENSP00000336894:R306Q	R	+	2	0	NAB1	191243394	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.552000	0.82192	2.882000	0.98803	0.655000	0.94253	CGA	NAB1	-	pfam_NAB_co-repressor_dom		0.403	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAB1	HGNC	protein_coding	OTTHUMT00000255986.1	G	NM_005966		191535149	1	no_errors	ENST00000337386	ensembl	human	known	70_37	missense	SNP	1.000	A	A	191535149	G	A	191535149	3	1	177	1	0	0	0	0	1	0	0	0	10154	1058	37	1	923	1	NAB1	2	191535149	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	24216128	191535149	51664224	7	33415										
LRRFIP2	9209	genome.wustl.edu	37	chr3	37095399	37095399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	atcttctccagccgcttggcCaggtggctgttggtcatctc	11	13	4	0			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr3:37095399C>T	ENST00000336686.4	-	28	2189	c.2109G>A	c.(2107-2109)ctG>ctA	p.L703L	LRRFIP2_ENST00000440230.1_Silent_p.L406L|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000421276.2_Silent_p.L406L|LRRFIP2_ENST00000396428.2_Silent_p.L485L|LRRFIP2_ENST00000421307.1_Silent_p.L703L|LRRFIP2_ENST00000354379.4_Silent_p.L382L			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	703					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCCGCTTGGCCAGGTGGCTGT	0.532																																																	1	Whole gene deletion(1)	ovary(1)											174	149	158					3																	37095399		2203	4300	6503	SO:0001819	synonymous_variant	9209			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.2109G>A	3.37:g.37095399C>T			A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_HLH_dom,superfamily_Prefoldin	p.L703	ENST00000336686.4	37	c.2109	CCDS2664.1	3																																																																																			LRRFIP2	-	NULL		0.532	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	HGNC	protein_coding	OTTHUMT00000253335.3	C	NM_006309		37095399	-1	no_errors	ENST00000336686	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37095399	C	T	37095399	2	4	177	1	0	0	0	0	0	0	0	1	9051	581	21	4		4	LRRFIP2	3	37095399	Silent	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09		37095399	160927031	8	33416										
CYB561D2	11068	genome.wustl.edu	37	chr3	50390809	50390809	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ctgtgtgcactgctgggcctCggccttgtcatcctccacaa	10	15	1	0			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr3:50390809C>T	ENST00000418577.1	+	3	879	c.303C>T	c.(301-303)ctC>ctT	p.L101L	CYB561D2_ENST00000425346.1_Silent_p.L101L|CYB561D2_ENST00000424512.1_Silent_p.L101L|CYB561D2_ENST00000232508.5_Silent_p.L101L|NPRL2_ENST00000232501.3_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000419046.1_3'UTR			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	101	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCTGGGCCTCGGCCTTGTCA	0.652																																																	0													49	50	50					3																	50390809		2203	4300	6503	SO:0001819	synonymous_variant	11068			AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"Cytochrome b genes"	30253	protein-coding gene	gene with protein product	"putative tumor suppressor 101F6"	607068	"cytochrome b-561 domain containing 2"			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.303C>T	3.37:g.50390809C>T			A8K552	Silent	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.L101	ENST00000418577.1	37	c.303	CCDS2827.1	3																																																																																			CYB561D2	-	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM		0.652	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYB561D2	HGNC	protein_coding	OTTHUMT00000345973.1	C	NM_007022		50390809	1	no_errors	ENST00000232508	ensembl	human	known	70_37	silent	SNP	0.254	T	T	50390809	C	T	50390809	2	4	177	1	0	0	0	0	0	0	0	1	4126	871	31	1		1	CYB561D2	3	50390809	Silent	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	13295410	50390809	147631621	9	33417										
KALRN	8997	genome.wustl.edu	37	chr3	124215171	124215171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	cctgcagggatggagtggagGatattgacagccagggggat	18	6	0	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr3:124215171G>A	ENST00000240874.3	+	33	4997	c.4840G>A	c.(4840-4842)Gat>Aat	p.D1614N	KALRN_ENST00000460856.1_Missense_Mutation_p.D1605N|KALRN_ENST00000360013.3_Missense_Mutation_p.D1614N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1614					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGAGTGGAGGATATTGACAG	0.547																																																	0													107	105	106					3																	124215171		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4840G>A	3.37:g.124215171G>A	ENSP00000240874:p.Asp1614Asn		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D1614N	ENST00000240874.3	37	c.4840	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.484035	0.96307	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.21734	1.99;1.99;1.99	5.25	5.25	0.73442	.	0.115400	0.56097	D	0.000027	T	0.38214	0.1032	L	0.49126	1.545	0.80722	D	1	P;P;P	0.48911	0.749;0.884;0.917	B;P;P	0.56960	0.434;0.516;0.81	T	0.01195	-1.1422	10	0.45353	T	0.12	.	19.3982	0.94617	0.0:0.0:1.0:0.0	.	1605;1614;1614	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	N	1605;1614;1614	ENSP00000418611:D1605N;ENSP00000240874:D1614N;ENSP00000353109:D1614N	ENSP00000240874:D1614N	D	+	1	0	KALRN	125697861	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.601000	0.98297	2.894000	0.99253	0.655000	0.94253	GAT	KALRN	-	NULL		0.547	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	G	NM_003947		124215171	1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124215171	G	A	124215171	3	1	177	1	0	0	0	0	1	0	0	0	7995	1174	41	1	4970	1	KALRN	3	124215171	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	73824362	124215171	73807259	10	33418										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	177	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	54720920	178936091	19086339	11	33419										
HRASLS	57110	genome.wustl.edu	37	chr3	192980926	192980926	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	aagaaatcataaagcggtcaGagtttgtaattggacaggag	12	4	2	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr3:192980926G>T	ENST00000602513.1	+	3	716	c.307G>T	c.(307-309)Gag>Tag	p.E103*	HRASLS_ENST00000264735.2_Nonsense_Mutation_p.E208*			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	103					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		AAAGCGGTCAGAGTTTGTAAT	0.423																																																	0													117	120	119					3																	192980926		2203	4300	6503	SO:0001587	stop_gained	57110			AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.307G>T	3.37:g.192980926G>T	ENSP00000473258:p.Glu103*		D2KX19	Nonsense_Mutation	SNP	pfam_LRAT-like_dom	p.E103*	ENST00000602513.1	37	c.307		3	.	.	.	.	.	.	.	.	.	.	G	39	7.479831	0.98309	.	.	ENSG00000127252	ENST00000264735	.	.	.	6.17	6.17	0.99709	.	0.111999	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-1.4914	19.8676	0.96824	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000264735:E103X	E	+	1	0	HRASLS	194463620	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	4.505000	0.60421	2.941000	0.99782	0.655000	0.94253	GAG	HRASLS	-	pfam_LRAT-like_dom		0.423	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	HRASLS	HGNC	protein_coding		G			192980926	1	no_errors	ENST00000264735	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	192980926	G	T	192980926	4	4	177	1	0	0	0	0	0	1	0	0	7369	943	33	3	313	3	HRASLS	3	192980926	Nonsense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	14044835	192980926	5041504	12	33420										
LSG1	55341	genome.wustl.edu	37	chr3	194392797	194392797	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	acatggtctgtcttacccagGagtcagtgtgacgatggctt	12	9	3	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr3:194392797G>C	ENST00000265245.5	-	1	409	c.95C>G	c.(94-96)tCc>tGc	p.S32C	LSG1_ENST00000480853.1_Intron	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	32					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCTTACCCAGGAGTCAGTGTG	0.567																																																	0													60	57	58					3																	194392797		2203	4300	6503	SO:0001583	missense	55341				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.95C>G	3.37:g.194392797G>C	ENSP00000265245:p.Ser32Cys		A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	pfam_GTP_binding_domain,prints_GTP_binding_domain	p.S32C	ENST00000265245.5	37	c.95	CCDS33922.1	3	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375499	0.61735	.	.	ENSG00000041802	ENST00000265245	T	0.49720	0.77	4.16	4.16	0.48862	.	0.543494	0.21154	N	0.079263	T	0.60170	0.2248	M	0.77313	2.365	0.44579	D	0.997544	D	0.53312	0.959	P	0.53062	0.717	T	0.65623	-0.6123	10	0.72032	D	0.01	.	12.2548	0.54617	0.0:0.0:1.0:0.0	.	32	Q9H089	LSG1_HUMAN	C	32	ENSP00000265245:S32C	ENSP00000265245:S32C	S	-	2	0	LSG1	195874086	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.263000	0.43293	2.594000	0.87642	0.563000	0.77884	TCC	LSG1	-	NULL		0.567	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSG1	HGNC	protein_coding	OTTHUMT00000342740.1	G	NM_018385		194392797	-1	no_errors	ENST00000265245	ensembl	human	known	70_37	missense	SNP	1.000	C	C	194392797	G	C	194392797	3	2	177	1	0	0	0	0	1	0	0	0	9072	1174	41	1	1937	1	LSG1	3	194392797	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	1411871	194392797	3629633	13	33421										
BOD1L	259282	genome.wustl.edu	37	chr4	13612555	13612556	+	Intron	INS	-	-	A													0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	taacagaacaaactggacttINSacaatggactgtcgtcgttg							TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr4:13612555_13612556insA	ENST00000040738.5	-	6	1627					NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1							nucleus (GO:0005634)	DNA binding (GO:0003677)										AAACTGGACTTACAATGGACTG	0.371																																																	0																																										SO:0001627	intron_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1491+1->T	4.37:g.13612556_13612556dupA			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Splice_Site	INS	-	e6+2	ENST00000040738.5	37	c.1491+2_1491+1	CCDS3411.2	4																																																																																			BOD1L1	-	-		0.371	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	NM_148894		13612556	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	splice_site_ins	INS	1.000:1.000	A	A	13612556	-	A	13612555	6	5	177	0	1	1	1	0	0	0	0	0	1484	1769	61	0		0	BOD1L	4	13612555	Intron	INS	-	TCGA-MY-A5BE-01A-21D-A26G-09		13612555	177541721	14	33422										
PCDHGB1	56104	genome.wustl.edu	37	chr5	140731931	140731931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	tctcagtgctctttctcctcGcggtgattctagcgatcgcc	9	14	4	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr5:140731931G>A	ENST00000523390.1	+	1	2104	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	702					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCTCCTCGCGGTGATTCT	0.622																																																	0													126	136	133					5																	140731931		2078	4197	6275	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2104G>A	5.37:g.140731931G>A	ENSP00000429273:p.Ala702Thr		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A702T	ENST00000523390.1	37	c.2104	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	0.147	-1.095198	0.01858	.	.	ENSG00000254221	ENST00000523390	T	0.14640	2.49	5.68	2.39	0.29439	.	.	.	.	.	T	0.08268	0.0206	L	0.45352	1.415	0.09310	N	1	B;B	0.31485	0.003;0.325	B;B	0.20384	0.01;0.029	T	0.31668	-0.9935	9	0.17832	T	0.49	.	2.3207	0.04209	0.3535:0.0:0.4231:0.2234	.	702;702	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	T	702	ENSP00000429273:A702T	ENSP00000429273:A702T	A	+	1	0	PCDHGB1	140712115	0.381000	0.25140	0.093000	0.20910	0.022000	0.10575	-0.229000	0.09098	0.838000	0.34948	-0.137000	0.14449	GCG	PCDHGB1	-	NULL		0.622	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	G	NM_018922		140731931	1	no_errors	ENST00000523390	ensembl	human	known	70_37	missense	SNP	0.003	A	A	140731931	G	A	140731931	3	1	177	1	0	0	0	0	1	0	0	0	11586	1087	38	2	2106	2	PCDHGB1	5	140731931	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09		140731931	40183329	15	33423										
MAK	4117	genome.wustl.edu	37	chr6	10804111	10804111	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	tgaagatctcagtaaaacttCaggggcacgatacctatgaa	9	8	2	3			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr6:10804111C>T	ENST00000313243.2	-	7	887	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	MAK_ENST00000354489.2_Missense_Mutation_p.E169K|MAK_ENST00000474039.1_Missense_Mutation_p.E169K|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_Missense_Mutation_p.E169K|MAK_ENST00000538030.1_Missense_Mutation_p.E169K			P20794	MAK_HUMAN	male germ cell-associated kinase	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGTAAAACTTCAGGGGCACGA	0.418																																																	0													82	77	79					6																	10804111		2203	4300	6503	SO:0001583	missense	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.505G>A	6.37:g.10804111C>T	ENSP00000313021:p.Glu169Lys		F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E169K	ENST00000313243.2	37	c.505	CCDS4516.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.333804	0.95758	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030;ENST00000536370	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93818	0.7116	10	0.87932	D	0	.	19.2488	0.93913	0.0:1.0:0.0:0.0	.	169	P20794	MAK_HUMAN	K	169	ENSP00000313021:E169K;ENSP00000346484:E169K;ENSP00000442250:E169K;ENSP00000442221:E169K	ENSP00000313021:E169K	E	-	1	0	MAK	10912097	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.616000	0.83018	2.547000	0.85894	0.557000	0.71058	GAA	MAK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.418	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK	HGNC	protein_coding	OTTHUMT00000039841.1	C	NM_005906		10804111	-1	no_errors	ENST00000313243	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10804111	C	T	10804111	3	4	177	1	0	0	0	0	1	0	0	0	9220	835	29	1	1398	1	MAK	6	10804111	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09		10804111	160310956	16	33424										
SNX8	29886	genome.wustl.edu	37	chr7	2314765	2314765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	acctcccagcattctcttggGtggcagggcaggcaccatac	11	14	1	0			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr7:2314765G>A	ENST00000222990.3	-	3	442	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	134	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		ATTCTCTTGGGTGGCAGGGCA	0.617																																																	0													118	111	113					7																	2314765		2203	4300	6503	SO:0001583	missense	29886			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.400C>T	7.37:g.2314765G>A	ENSP00000222990:p.Pro134Ser		A4D207|Q96I67	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.P134S	ENST00000222990.3	37	c.400	CCDS5331.1	7	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736175	0.89482	.	.	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286;ENST00000435336;ENST00000447136	T;T;T;T;T	0.37058	1.22;1.22;1.55;1.22;1.22	4.9	4.9	0.64082	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.64080	1.96	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.61950	-0.6957	10	0.59425	D	0.04	.	18.0753	0.89425	0.0:0.0:1.0:0.0	.	134	Q9Y5X2	SNX8_HUMAN	S	134;120;81;81;81	ENSP00000222990:P134S;ENSP00000392437:P120S;ENSP00000406954:P81S;ENSP00000406212:P81S;ENSP00000403608:P81S	ENSP00000222990:P134S	P	-	1	0	SNX8	2281291	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.035000	0.93752	2.253000	0.74438	0.563000	0.77884	CCC	SNX8	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.617	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX8	HGNC	protein_coding	OTTHUMT00000322949.2	G			2314765	-1	no_errors	ENST00000222990	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2314765	G	A	2314765	3	1	177	1	0	0	0	0	1	0	0	0	14938	1261	44	4	1033	4	SNX8	7	2314765	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09		2314765	156823898	17	33425										
NOM1	64434	genome.wustl.edu	37	chr7	156759085	156759085	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	gcaaattctgtgaatatgaaAggagatttcaggtagcttag	11	4	2	3			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr7:156759085A>T	ENST00000275820.3	+	8	2170	c.2155A>T	c.(2155-2157)Agg>Tgg	p.R719W		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	719	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAATATGAAAGGAGATTTCA	0.458																																																	0													147	128	135					7																	156759085		2203	4300	6503	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2155A>T	7.37:g.156759085A>T	ENSP00000275820:p.Arg719Trp		Q96I08	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.R719W	ENST00000275820.3	37	c.2155	CCDS34787.1	7	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822564	0.71028	.	.	ENSG00000146909	ENST00000275820	T	0.31769	1.48	4.91	2.35	0.29111	Initiation factor eIF-4 gamma, MA3 (3);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67864	-0.5560	10	0.87932	D	0	-34.184	11.3277	0.49458	0.7101:0.2899:0.0:0.0	.	719	Q5C9Z4	NOM1_HUMAN	W	719	ENSP00000275820:R719W	ENSP00000275820:R719W	R	+	1	2	NOM1	156451846	0.998000	0.40836	0.152000	0.22495	0.928000	0.56348	2.937000	0.48979	0.174000	0.19809	0.533000	0.62120	AGG	NOM1	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.458	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOM1	HGNC	protein_coding	OTTHUMT00000327098.1	A	NM_138400		156759085	1	no_errors	ENST00000275820	ensembl	human	known	70_37	missense	SNP	0.998	T	T	156759085	A	T	156759085	3	4	177	1	0	0	0	0	1	0	0	0	10554	63	3	5	2185	5	NOM1	7	156759085	Missense_Mutation	SNP	A	TCGA-MY-A5BE-01A-21D-A26G-09	154444320	156759085	2379578	18	33426										
WDR60	55112	genome.wustl.edu	37	chr7	158664075	158664077	+	In_Frame_Del	DEL	GAA	GAA	-													0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	gaccgggagaaagaaaagctGaaggagaaacatcgagaggc					rs3833679|rs145233696	byFrequency	TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr7:158664075_158664077delGAA	ENST00000407559.3	+	3	470_472	c.312_314delGAA	c.(310-315)ctgaag>ctg	p.K105del		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	105					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K105delK(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		aagaaaagctgaaggagaaacat	0.542														583	0.116414	0.0908	0.0965	5008	,	,		19368	0.0556		0.1889	False		,,,				2504	0.1534																1	Deletion - In frame(1)	central_nervous_system(1)								346,3112		52,242,1435						-8.3	0		dbSNP_107	66	1313,5999		217,879,2560	no	coding	WDR60	NM_018051.4		269,1121,3995	A1A1,A1R,RR		17.9568,10.0058,15.4039				1659,9111				SO:0001651	inframe_deletion	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.312_314delGAA	7.37:g.158664075_158664077delGAA	ENSP00000384290:p.Lys105del		Q9NW58	In_Frame_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.K105in_frame_del	ENST00000407559.3	37	c.312_314	CCDS47757.1	7																																																																																			WDR60	-	NULL		0.542	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	GAA	NM_018051		158664077	1	no_errors	ENST00000407559	ensembl	human	known	70_37	in_frame_del	DEL	0.000:0.001:0.001	-	-	158664077	GAA	-	158664075	7	5	177	1	0	1	0	1	0	0	0	0	17342	1277	45	0	322	0	WDR60	7	158664075	In_Frame_Del	DEL	GAA	TCGA-MY-A5BE-01A-21D-A26G-09	1904990	158664075	474588	19	33427										
RBM12B	389677	genome.wustl.edu	37	chr8	94745772	94745772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	cttgctcattatactgtatcGaaactgaatcaggtatgatt	7	7	2	2	rs371306525		TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr8:94745772G>A	ENST00000399300.2	-	3	3080	c.2867C>T	c.(2866-2868)tCg>tTg	p.S956L	RBM12B_ENST00000517700.1_Missense_Mutation_p.S836L|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	956	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ATACTGTATCGAAACTGAATC	0.333																																																	0								G	LEU/SER	1,3699		0,1,1849	52	52	52		2867	3.9	1	8		52	0,8168		0,0,4084	no	missense	RBM12B	NM_203390.2	145	0,1,5933	AA,AG,GG		0.0,0.027,0.0084	probably-damaging	956/1002	94745772	1,11867	1850	4084	5934	SO:0001583	missense	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2867C>T	8.37:g.94745772G>A	ENSP00000382239:p.Ser956Leu		A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S956L	ENST00000399300.2	37	c.2867	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295391	0.60086	2.7E-4	0.0	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.04502	3.61;3.61	5.71	3.9	0.45041	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.896288	0.09512	N	0.792090	T	0.11281	0.0275	L	0.41632	1.29	0.25616	N	0.986451	D	0.76494	0.999	D	0.64144	0.922	T	0.33033	-0.9884	10	0.33141	T	0.24	0.1983	6.5265	0.22305	0.069:0.1306:0.665:0.1355	.	956	Q8IXT5	RB12B_HUMAN	L	956;836	ENSP00000382239:S956L;ENSP00000427729:S836L	ENSP00000382239:S956L	S	-	2	0	RBM12B	94814948	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	3.573000	0.53856	0.750000	0.32877	0.563000	0.77884	TCG	RBM12B	-	smart_RRM_dom,pfscan_RRM_dom		0.333	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	G	NM_203390		94745772	-1	no_errors	ENST00000399300	ensembl	human	known	70_37	missense	SNP	0.991	A	A	94745772	G	A	94745772	3	1	177	1	0	0	0	0	1	0	0	0	13144	1059	37	1	142	1	RBM12B	8	94745772	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09		94745772	51618250	20	33428										
KDM4C	23081	genome.wustl.edu	37	chr9	7174651	7174651	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	gtgctgagctccaggtttaaGaatgaatatgtggccgaccc	12	9	0	3			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr9:7174651G>A	ENST00000381309.3	+	22	3658	c.3093G>A	c.(3091-3093)aaG>aaA	p.K1031K	KDM4C_ENST00000442236.2_Silent_p.K776K|KDM4C_ENST00000428870.2_Silent_p.K718K	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1031					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CCAGGTTTAAGAATGAATATG	0.473																																																	0													172	175	174					9																	7174651		2203	4300	6503	SO:0001819	synonymous_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.3093G>A	9.37:g.7174651G>A			B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.K1031	ENST00000381309.3	37	c.3093	CCDS6471.1	9																																																																																			KDM4C	-	superfamily_Chorismate_mutase_type_II		0.473	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	G	NM_015061		7174651	1	no_errors	ENST00000381309	ensembl	human	known	70_37	silent	SNP	1.000	A	A	7174651	G	A	7174651	2	1	177	1	0	0	0	0	0	0	0	1	8150	933	33	1		1	KDM4C	9	7174651	Silent	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09		7174651	134038780	21	33429										
RABEPK	10244	genome.wustl.edu	37	chr9	127995018	127995018	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	tggacacaatgtaccagtatCacacaggtgagcaggtgtcc	11	10	1	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr9:127995018C>G	ENST00000373538.3	+	7	1130	c.820C>G	c.(820-822)Cac>Gac	p.H274D	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.H223D|RABEPK_ENST00000394125.4_Missense_Mutation_p.H274D	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	274					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GTACCAGTATCACACAGGTGA	0.502																																																	0													50	49	49					9																	127995018		2203	4300	6503	SO:0001583	missense	10244			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.820C>G	9.37:g.127995018C>G	ENSP00000362639:p.His274Asp		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.H274D	ENST00000373538.3	37	c.820	CCDS6862.1	9	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982183	0.18889	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.60548	0.18;0.18;0.18	5.29	4.39	0.52855	Kelch-type beta propeller (1);	0.366783	0.34156	N	0.004203	T	0.30634	0.0771	N	0.04387	-0.21	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.09377	0.004;0.002;0.004	T	0.24440	-1.0160	10	0.02654	T	1	-4.6636	13.6372	0.62229	0.0:0.7036:0.2964:0.0	.	274;223;274	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	D	274;223;274	ENSP00000377683:H274D;ENSP00000259460:H223D;ENSP00000362639:H274D	ENSP00000259460:H223D	H	+	1	0	RABEPK	127034839	1.000000	0.71417	0.986000	0.45419	0.909000	0.53808	3.013000	0.49582	1.203000	0.43233	0.655000	0.94253	CAC	RABEPK	-	pfam_Kelch_2,pfam_Kelch_1		0.502	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	HGNC	protein_coding	OTTHUMT00000054064.1	C	NM_005833		127995018	1	no_errors	ENST00000373538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127995018	C	G	127995018	3	3	177	1	0	0	0	0	1	0	0	0	12993	826	29	1	842	1	RABEPK	9	127995018	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	120820367	127995018	13218413	22	33430										
ZER1	10444	genome.wustl.edu	37	chr9	131513726	131513726	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	tgtgcgtgaggcggcacagaGagttctcaaagagcccgagg	16	9	1	3			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr9:131513726G>C	ENST00000291900.2	-	6	1410	c.1004C>G	c.(1003-1005)tCt>tGt	p.S335C	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	335					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.S335F(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GCGGCACAGAGAGTTCTCAAA	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											87	95	93					9																	131513726		2203	4300	6503	SO:0001583	missense	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1004C>G	9.37:g.131513726G>C	ENSP00000291900:p.Ser335Cys		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.S335C	ENST00000291900.2	37	c.1004	CCDS6910.1	9	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964488	0.74131	.	.	ENSG00000160445	ENST00000291900	T	0.49720	0.77	5.39	5.39	0.77823	.	0.242428	0.41712	D	0.000839	T	0.50343	0.1610	L	0.48642	1.525	0.53005	D	0.999965	D	0.58620	0.983	P	0.47075	0.536	T	0.53746	-0.8395	10	0.59425	D	0.04	-30.6644	17.7253	0.88363	0.0:0.0:1.0:0.0	.	335	Q7Z7L7	ZER1_HUMAN	C	335	ENSP00000291900:S335C	ENSP00000291900:S335C	S	-	2	0	ZER1	130553547	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.715000	0.61909	2.548000	0.85928	0.313000	0.20887	TCT	ZER1	-	NULL		0.587	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	HGNC	protein_coding	OTTHUMT00000054491.1	G	NM_006336		131513726	-1	no_errors	ENST00000291900	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131513726	G	C	131513726	3	2	177	1	0	0	0	0	1	0	0	0	17655	942	33	1	1340	1	ZER1	9	131513726	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	3518708	131513726	9699705	23	33431										
MCM10	55388	genome.wustl.edu	37	chr10	13233298	13233298	+	Splice_Site	DEL	G	G	-													0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	gggggtgacttgtcatttcaGtgcagcagctgtggctccta							TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr10:13233298delG	ENST00000484800.2	+	11	1521		c.e11-1		MCM10_ENST00000378694.1_Splice_Site|MCM10_ENST00000378714.3_Splice_Site			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10						cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGTCATTTCAGTGCAGCAGCT	0.428																																																	0													89	83	85					10																	13233298		2203	4300	6503	SO:0001630	splice_region_variant	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1419-1G>-	10.37:g.13233298delG			A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Splice_Site	DEL	-	e10-1	ENST00000484800.2	37	c.1419-1	CCDS7096.1	10																																																																																			MCM10	-	-		0.428	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	G	NM_182751	Intron	13233298	1	no_errors	ENST00000361282	ensembl	human	known	70_37	splice_site_del	DEL	0.997	-	-	13233298	G	-	13233298	8	5	177	1	0	1	0	1	0	0	1	0	9408	1043	36	0	1456	0	MCM10	10	13233298	Splice_Site	DEL	G	TCGA-MY-A5BE-01A-21D-A26G-09		13233298	122301449	24	33432										
PCDH15	65217	genome.wustl.edu	37	chr10	55949131	55949131	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	acctagtacctacaggaactCcactgggtggaacctatacg	9	12	0	0			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr10:55949131C>G	ENST00000320301.6	-	12	1700				PCDH15_ENST00000409834.1_Missense_Mutation_p.G44A|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000361849.3_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G440A|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.G440A|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACAGGAACTCCACTGGGTGG	0.348										HNSCC(58;0.16)																																							0													88	81	83					10																	55949131		1564	3577	5141	SO:0001627	intron_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1306-4103G>C	10.37:g.55949131C>G			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G44A	ENST00000320301.6	37	c.131	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084268	0.20309	.	.	ENSG00000150275	ENST00000373965;ENST00000409834;ENST00000395445	T;T;T	0.60171	0.48;0.21;0.45	5.47	3.6	0.41247	.	.	.	.	.	T	0.26702	0.0653	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19549	-1.0302	9	0.02654	T	1	.	3.9071	0.09186	0.1703:0.5788:0.1642:0.0867	.	440;440	C6ZEF5;A2A3E2	.;.	A	440;44;440	ENSP00000363076:G440A;ENSP00000386693:G44A;ENSP00000378832:G440A	ENSP00000363076:G440A	G	-	2	0	PCDH15	55619137	0.999000	0.42202	0.986000	0.45419	0.302000	0.27658	1.527000	0.35975	1.309000	0.44985	0.585000	0.79938	GGA	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.348	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	C	NM_033056		55949131	-1	no_errors	ENST00000409834	ensembl	human	putative	70_37	missense	SNP	0.969	G	G	55949131	C	G	55949131	1	3	177	0	1	0	0	0	0	0	0	0	11535	855	30	1		1	PCDH15	10	55949131	Intron	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	42715833	55949131	79585616	25	33433										
DLG5	9231	genome.wustl.edu	37	chr10	79601670	79601670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	cctccatctcctcattggccGccttcttctcagatgtgctg	7	16	4	1	rs374686972		TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr10:79601670G>A	ENST00000372391.2	-	7	1411	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	DLG5_ENST00000372388.2_Missense_Mutation_p.A469V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	469					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCATTGGCCGCCTTCTTCTC	0.612																																																	0								G	VAL/ALA	0,4406		0,0,2203	94	78	83		1406	3.6	1	10		83	2,8598	2.2+/-6.3	0,2,4298	no	missense	DLG5	NM_004747.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	469/1920	79601670	2,13004	2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1406C>T	10.37:g.79601670G>A	ENSP00000361467:p.Ala469Val		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.A469V	ENST00000372391.2	37	c.1406	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210378	0.58343	0.0	2.33E-4	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04156	3.72;3.69	5.67	3.59	0.41128	.	0.000000	0.37219	N	0.002197	T	0.01353	0.0044	N	0.00879	-1.12	0.29630	N	0.845559	B;B;B	0.17667	0.022;0.013;0.023	B;B;B	0.15484	0.013;0.006;0.004	T	0.38265	-0.9669	10	0.17369	T	0.5	.	4.2264	0.10582	0.4587:0.0:0.5413:0.0	.	359;469;469	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	V	469	ENSP00000361467:A469V;ENSP00000361464:A469V	ENSP00000361464:A469V	A	-	2	0	DLG5	79271676	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.324000	0.79115	1.412000	0.46977	0.462000	0.41574	GCG	DLG5	-	NULL		0.612	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	G			79601670	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79601670	G	A	79601670	3	1	177	1	0	0	0	0	1	0	0	0	4568	1087	38	2	4457	2	DLG5	10	79601670	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	23652539	79601670	55933077	26	33434										
KRT71	112802	genome.wustl.edu	37	chr12	52941658	52941658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	cacctgcttcttcacgttctCgatctctgagcggattctct	7	14	5	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr12:52941658C>T	ENST00000267119.5	-	6	1156	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	363	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TTCACGTTCTCGATCTCTGAG	0.562																																																	0													189	182	184					12																	52941658		2203	4300	6503	SO:0001583	missense	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1087G>A	12.37:g.52941658C>T	ENSP00000267119:p.Glu363Lys		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E363K	ENST00000267119.5	37	c.1087	CCDS8831.1	12	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675949	0.88445	.	.	ENSG00000139648	ENST00000267119	D	0.89415	-2.51	3.93	3.93	0.45458	Filament (1);	0.144836	0.30911	N	0.008640	D	0.91304	0.7258	M	0.88979	2.995	0.49582	D	0.999807	P	0.45957	0.869	B	0.42959	0.403	D	0.93713	0.7026	10	0.72032	D	0.01	.	16.8429	0.85973	0.0:1.0:0.0:0.0	.	363	Q3SY84	K2C71_HUMAN	K	363	ENSP00000267119:E363K	ENSP00000267119:E363K	E	-	1	0	KRT71	51227925	0.998000	0.40836	0.982000	0.44146	0.988000	0.76386	4.764000	0.62264	2.129000	0.65627	0.563000	0.77884	GAG	KRT71	-	pfam_F,superfamily_Prefoldin		0.562	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	HGNC	protein_coding	OTTHUMT00000396487.1	C	NM_033448		52941658	-1	no_errors	ENST00000267119	ensembl	human	known	70_37	missense	SNP	0.995	T	T	52941658	C	T	52941658	3	4	177	1	0	0	0	0	1	0	0	0	8504	893	31	1	500	1	KRT71	12	52941658	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09		52941658	80910237	27	33435										
KRT74	121391	genome.wustl.edu	37	chr12	52964473	52964473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	cttggtctggtacagggcctCggcctcggccttgctcttca	12	14	3	0			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr12:52964473C>T	ENST00000305620.2	-	5	1035	c.988G>A	c.(988-990)Gag>Aag	p.E330K	KRT74_ENST00000549343.1_Missense_Mutation_p.E330K	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	330	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TACAGGGCCTCGGCCTCGGCC	0.592																																																	0													70	63	65					12																	52964473		2203	4300	6503	SO:0001583	missense	121391			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.988G>A	12.37:g.52964473C>T	ENSP00000307240:p.Glu330Lys		B5MD61|Q86Y45	Missense_Mutation	SNP	pfam_F,prints_Keratin_II	p.E330K	ENST00000305620.2	37	c.988	CCDS8832.1	12	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896222	0.72639	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.93763	-3.28;-3.28	4.49	3.59	0.41128	Filament (1);	0.000000	0.35772	N	0.002995	D	0.96140	0.8742	H	0.98388	4.22	0.48395	D	0.999646	P	0.49447	0.924	B	0.42738	0.396	D	0.96991	0.9722	10	0.72032	D	0.01	.	15.1876	0.73016	0.0:0.8579:0.1421:0.0	.	330	Q7RTS7	K2C74_HUMAN	K	330	ENSP00000447447:E330K;ENSP00000307240:E330K	ENSP00000307240:E330K	E	-	1	0	KRT74	51250740	0.995000	0.38212	0.388000	0.26195	0.738000	0.42128	3.312000	0.51927	1.194000	0.43101	0.655000	0.94253	GAG	KRT74	-	pfam_F		0.592	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT74	HGNC	protein_coding	OTTHUMT00000405324.1	C	NM_175053		52964473	-1	no_errors	ENST00000305620	ensembl	human	known	70_37	missense	SNP	0.999	T	T	52964473	C	T	52964473	3	4	177	1	0	0	0	0	1	0	0	0	8507	893	31	1	621	1	KRT74	12	52964473	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	22815	52964473	80887422	28	33436										
PXMP2	5827	genome.wustl.edu	37	chr12	133272500	133272500	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	acagggccgctgagtcacttCttctacttcttcatggaaca	8	12	5	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr12:133272500C>G	ENST00000317479.3	+	3	332	c.267C>G	c.(265-267)ttC>ttG	p.F89L	RP13-672B3.2_ENST00000537262.1_Intron|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000539093.1_Intron|PXMP2_ENST00000428960.2_5'UTR|PXMP2_ENST00000545677.1_Intron	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	89						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		TGAGTCACTTCTTCTACTTCT	0.582																																																	0													65	64	65					12																	133272500		2203	4300	6503	SO:0001583	missense	5827				CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"peroxisomal membrane protein 2 (22kD)"			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.267C>G	12.37:g.133272500C>G	ENSP00000321271:p.Phe89Leu			Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.F89L	ENST00000317479.3	37	c.267	CCDS9279.1	12	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240983	0.39598	.	.	ENSG00000176894	ENST00000317479	D	0.89552	-2.53	5.36	3.53	0.40419	.	0.402860	0.30446	N	0.009613	T	0.79215	0.4408	L	0.28504	0.86	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.69367	-0.5164	10	0.20519	T	0.43	.	6.5157	0.22246	0.0:0.724:0.0:0.276	.	89	Q9NR77	PXMP2_HUMAN	L	89	ENSP00000321271:F89L	ENSP00000321271:F89L	F	+	3	2	PXMP2	131782573	0.945000	0.32115	0.981000	0.43875	0.791000	0.44710	0.521000	0.22893	1.272000	0.44329	-0.136000	0.14681	TTC	PXMP2	-	NULL		0.582	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP2	HGNC	protein_coding	OTTHUMT00000397553.1	C	NM_018663		133272500	1	no_errors	ENST00000317479	ensembl	human	known	70_37	missense	SNP	0.930	G	G	133272500	C	G	133272500	3	3	177	1	0	0	0	0	1	0	0	0	12880	912	32	1	277	1	PXMP2	12	133272500	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	80308027	133272500	579395	29	33437										
ING1	3621	genome.wustl.edu	37	chr13	111367831	111367831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ttatcattcccctgcggaacGattggtcgctgaggcggatg	13	10	1	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr13:111367831G>A	ENST00000375774.3	+	1	503	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	ING1_ENST00000333219.7_Intron|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	14					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCTGCGGAACGATTGGTCGCT	0.532																																																	0													124	126	125					13																	111367831		2203	4300	6503	SO:0001583	missense	3621				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.41G>A	13.37:g.111367831G>A	ENSP00000364929:p.Arg14Gln		O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R14Q	ENST00000375774.3	37	c.41	CCDS9517.1	13	.	.	.	.	.	.	.	.	.	.	G	7.641	0.680980	0.14907	.	.	ENSG00000153487	ENST00000375774	T	0.54866	0.55	4.32	-8.64	0.00874	.	2.776700	0.03384	N	0.200840	T	0.24736	0.0600	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.13683	-1.0500	10	0.51188	T	0.08	-0.001	1.7469	0.02963	0.1648:0.3319:0.1301:0.3732	.	14	Q9UK53	ING1_HUMAN	Q	14	ENSP00000364929:R14Q	ENSP00000364929:R14Q	R	+	2	0	ING1	110165832	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.804000	0.04535	-2.120000	0.00826	-0.258000	0.10820	CGA	ING1	-	NULL		0.532	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	G	NM_005537		111367831	1	no_errors	ENST00000375774	ensembl	human	known	70_37	missense	SNP	0.000	A	A	111367831	G	A	111367831	3	1	177	1	0	0	0	0	1	0	0	0	7755	1058	37	1	191	1	ING1	13	111367831	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09		111367831	3802047	30	33438										
TRPM7	54822	genome.wustl.edu	37	chr15	50904978	50904978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	tggatcatcaatgtctacaaTttcatctttggttcttttct	5	8	7	0			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr15:50904978T>C	ENST00000313478.7	-	16	2100	c.1819A>G	c.(1819-1821)Att>Gtt	p.I607V	TRPM7_ENST00000560955.1_Missense_Mutation_p.I607V	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	607					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATGTCTACAATTTCATCTTTG	0.358																																																	0													202	200	200					15																	50904978		1821	4077	5898	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1819A>G	15.37:g.50904978T>C	ENSP00000320239:p.Ile607Val		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.I607V	ENST00000313478.7	37	c.1819	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	T	6.391	0.440180	0.12104	.	.	ENSG00000092439	ENST00000313478	T	0.73575	-0.76	5.38	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	L	0.27053	0.805	0.39670	D	0.970744	B	0.02656	0.0	B	0.06405	0.002	T	0.39333	-0.9619	10	0.15066	T	0.55	-8.381	7.3223	0.26533	0.1351:0.0704:0.0:0.7945	.	607	Q96QT4	TRPM7_HUMAN	V	607	ENSP00000320239:I607V	ENSP00000320239:I607V	I	-	1	0	TRPM7	48692270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.589000	0.36644	0.413000	0.25759	0.477000	0.44152	ATT	TRPM7	-	NULL		0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	T	NM_017672		50904978	-1	no_errors	ENST00000313478	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50904978	T	C	50904978	3	2	177	1	0	0	0	0	1	0	0	0	16622	1493	52	5	3874	5	TRPM7	15	50904978	Missense_Mutation	SNP	T	TCGA-MY-A5BE-01A-21D-A26G-09		50904978	51626414	31	33439										
UNC13C	440279	genome.wustl.edu	37	chr15	54542589	54542589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	catgaagtgtctggagtgtgGagtgaaatgccacgaaaagt	14	5	1	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr15:54542589G>A	ENST00000260323.11	+	7	3395	c.3395G>A	c.(3394-3396)gGa>gAa	p.G1132E	UNC13C_ENST00000545554.1_Missense_Mutation_p.G1132E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1130E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1132					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGGAGTGTGGAGTGAAATGC	0.507																																																	0													93	94	94					15																	54542589		2176	4288	6464	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3395G>A	15.37:g.54542589G>A	ENSP00000260323:p.Gly1132Glu		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.G1132E	ENST00000260323.11	37	c.3395	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293100	0.80914	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.92858	-3.12;-3.12;-3.12	5.56	5.56	0.83823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.114120	0.64402	D	0.000015	D	0.94971	0.8373	M	0.78916	2.43	0.80722	D	1	P	0.47604	0.898	P	0.53549	0.729	D	0.95321	0.8420	10	0.87932	D	0	.	18.5213	0.90954	0.0:0.0:1.0:0.0	.	1132	Q8NB66	UN13C_HUMAN	E	1132;1132;1130	ENSP00000260323:G1132E;ENSP00000438156:G1132E;ENSP00000442569:G1130E	ENSP00000260323:G1132E	G	+	2	0	UNC13C	52329881	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.856000	0.99531	2.626000	0.88956	0.650000	0.86243	GGA	UNC13C	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.507	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	G	NM_173166		54542589	1	no_errors	ENST00000260323	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54542589	G	A	54542589	3	1	177	1	0	0	0	0	1	0	0	0	17017	1174	41	1	3417	1	UNC13C	15	54542589	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	3637611	54542589	47988803	32	33440										
ACSBG1	23205	genome.wustl.edu	37	chr15	78466844	78466844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ggcacagggggcacattctcCccaccagctgtgatgattaa	11	12	1	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr15:78466844C>T	ENST00000258873.4	-	12	1930	c.1725G>A	c.(1723-1725)ggG>ggA	p.G575G	ACSBG1_ENST00000541759.1_Silent_p.G333G|ACSBG1_ENST00000560817.1_Silent_p.G333G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	575					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCACATTCTCCCCACCAGCTG	0.592																																																	0													75	61	66					15																	78466844		2196	4293	6489	SO:0001819	synonymous_variant	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1725G>A	15.37:g.78466844C>T			B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.G575	ENST00000258873.4	37	c.1725	CCDS10298.1	15																																																																																			ACSBG1	-	pfam_AMP-dep_Synth/Lig		0.592	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	C	NM_015162		78466844	-1	no_errors	ENST00000258873	ensembl	human	known	70_37	silent	SNP	0.990	T	T	78466844	C	T	78466844	2	4	177	1	0	0	0	0	0	0	0	1	173	610	22	4		4	ACSBG1	15	78466844	Silent	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	23924255	78466844	24064548	33	33441										
IL4R	3566	genome.wustl.edu	37	chr16	27373942	27373942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	gaggagaatgggggcttttgCcagcaggacatgggggagtc	19	6	0	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr16:27373942C>T	ENST00000395762.2	+	11	1528	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	IL4R_ENST00000543915.2_Silent_p.C423C|IL4R_ENST00000170630.2_Silent_p.C423C|IL4R_ENST00000380922.3_Silent_p.C408C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	423					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGGGCTTTTGCCAGCAGGACA	0.607																																																	0													71	72	71					16																	27373942		2197	4300	6497	SO:0001819	synonymous_variant	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1269C>T	16.37:g.27373942C>T			B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.C423	ENST00000395762.2	37	c.1269	CCDS10629.1	16																																																																																			IL4R	-	NULL		0.607	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	C			27373942	1	no_errors	ENST00000170630	ensembl	human	known	70_37	silent	SNP	0.005	T	T	27373942	C	T	27373942	2	4	177	1	0	0	0	0	0	0	0	1	7718	747	26	4		4	IL4R	16	27373942	Silent	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09		27373942	62980811	34	33442										
SHPK	23729	genome.wustl.edu	37	chr17	3539499	3539499	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	aggtcaatgccgagggtgatCggccgcgcagccattatctc	13	12	2	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr17:3539499C>T	ENST00000225519.3	-	1	117	c.15G>A	c.(13-15)ccG>ccA	p.P5P	CTNS_ENST00000381870.3_5'Flank|CTNS_ENST00000414524.2_5'Flank|CTNS_ENST00000046640.3_5'Flank|CTNS_ENST00000399306.2_5'Flank|CTNS_ENST00000441220.2_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	5					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CGAGGGTGATCGGCCGCGCAG	0.706																																																	0													24	30	28					17																	3539499		2198	4278	6476	SO:0001819	synonymous_variant	23729			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.15G>A	17.37:g.3539499C>T			B2R640|Q8WUH3	Silent	SNP	pfam_Carb_kinase_FGGY_N	p.P5	ENST00000225519.3	37	c.15	CCDS11030.1	17																																																																																			SHPK	-	NULL		0.706	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHPK	HGNC	protein_coding	OTTHUMT00000207378.2	C			3539499	-1	no_errors	ENST00000225519	ensembl	human	known	70_37	silent	SNP	0.000	T	T	3539499	C	T	3539499	2	4	177	1	0	0	0	0	0	0	0	1	14320	871	31	1		1	SHPK	17	3539499	Silent	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09		3539499	77655711	35	33443										
GPS2	2874	genome.wustl.edu	37	chr17	7216157	7216157	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ggctggtagctgcaaagcccGactggtggtggtgatgaaaa	16	7	0	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr17:7216157G>A	ENST00000380728.2	-	11	1202	c.902C>T	c.(901-903)tCg>tTg	p.S301L	GPS2_ENST00000389167.5_Splice_Site_p.S301L|GPS2_ENST00000391950.3_Intron|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	301					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGCAAAGCCCGACTGGTGGTG	0.517																																																	0													147	144	145					17																	7216157		2203	4300	6503	SO:0001630	splice_region_variant	2874			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.901-1C>T	17.37:g.7216157G>A			B4DXA1|Q6FHM8	Missense_Mutation	SNP	NULL	p.S301L	ENST00000380728.2	37	c.902	CCDS11100.1	17	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762599	0.89932	.	.	ENSG00000132522	ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.57595	0.39;0.39	4.76	4.76	0.60689	.	0.183072	0.35378	U	0.003253	T	0.52948	0.1766	N	0.19112	0.55	0.80722	D	1	D	0.61697	0.99	P	0.55455	0.776	T	0.59521	-0.7439	10	0.66056	D	0.02	3.2962	16.7104	0.85383	0.0:0.0:1.0:0.0	.	301	Q13227	GPS2_HUMAN	L	301	ENSP00000370104:S301L;ENSP00000379841:S301L	ENSP00000319371:S301L	S	-	2	0	GPS2	7156881	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.480000	0.66820	2.471000	0.83476	0.655000	0.94253	TCG	GPS2	-	NULL		0.517	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4	G	NM_004489	Missense_Mutation	7216157	-1	no_errors	ENST00000380728	ensembl	human	known	70_37	missense	SNP	0.999	A	A	7216157	G	A	7216157	5	1	177	1	0	0	0	0	0	0	1	0	6753	1072	37	1	85	1	GPS2	17	7216157	Splice_Site	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	3676658	7216157	73979053	36	33444										
MYH13	8735	genome.wustl.edu	37	chr17	10235467	10235467	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	tccacatcgatggagttgagGagcttctctgaggcattttt	11	8	1	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr17:10235467G>A	ENST00000418404.3	-	19	2410	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L749L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	749	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGAGTTGAGGAGCTTCTCTG	0.552																																																	0													147	152	151					17																	10235467		2084	4234	6318	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2247C>T	17.37:g.10235467G>A			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L749	ENST00000418404.3	37	c.2247	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10235467	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	0.945	A	A	10235467	G	A	10235467	2	1	177	1	0	0	0	0	0	0	0	1	10055	1161	41	1		1	MYH13	17	10235467	Silent	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	3019310	10235467	70959743	37	33445										
MED13	9969	genome.wustl.edu	37	chr17	60050199	60050199	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ggcatcctgaagaactggctGaagagagaggagcattcgaa	14	7	0	5			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr17:60050199G>A	ENST00000397786.2	-	17	3932	c.3856C>T	c.(3856-3858)Cag>Tag	p.Q1286*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1286					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAACTGGCTGAAGAGAGAGG	0.408																																																	0													202	199	200					17																	60050199		1868	4108	5976	SO:0001587	stop_gained	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3856C>T	17.37:g.60050199G>A	ENSP00000380888:p.Gln1286*		B2RU05|O60334	Nonsense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.Q1286*	ENST00000397786.2	37	c.3856	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	43	10.382607	0.99395	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-24.7916	20.099	0.97865	0.0:0.0:1.0:0.0	.	.	.	.	X	1286;1285	.	ENSP00000262436:Q1285X	Q	-	1	0	MED13	57404981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.752000	0.94435	0.655000	0.94253	CAG	MED13	-	NULL		0.408	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	G	NM_005121		60050199	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	60050199	G	A	60050199	4	1	177	1	0	0	0	0	0	1	0	0	9453	1299	45	1	2724	1	MED13	17	60050199	Nonsense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	49814732	60050199	21145011	38	33446										
TBC1D16	125058	genome.wustl.edu	37	chr17	77984149	77984149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ccgcggctcccgcccctcctCggtgacatcctgcggactga	11	19	0	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr17:77984149C>T	ENST00000310924.2	-	3	704	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	197							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CGCCCCTCCTCGGTGACATCC	0.682																																					Ovarian(14;397 562 4850 31922 49378)												0													30	32	32					17																	77984149		2200	4296	6496	SO:0001583	missense	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.589G>A	17.37:g.77984149C>T	ENSP00000309794:p.Glu197Lys		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E197K	ENST00000310924.2	37	c.589	CCDS11766.1	17	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155977	0.57259	.	.	ENSG00000167291	ENST00000310924	T	0.10099	2.91	4.74	4.74	0.60224	.	0.828882	0.11028	N	0.607583	T	0.04861	0.0131	N	0.08118	0	0.80722	D	1	P	0.48640	0.913	B	0.30855	0.121	T	0.49606	-0.8922	10	0.07482	T	0.82	.	17.7209	0.88351	0.0:1.0:0.0:0.0	.	197	Q8TBP0	TBC16_HUMAN	K	197	ENSP00000309794:E197K	ENSP00000309794:E197K	E	-	1	0	TBC1D16	75598744	0.682000	0.27624	0.318000	0.25279	0.538000	0.34931	2.608000	0.46308	2.178000	0.69098	0.591000	0.81541	GAG	TBC1D16	-	NULL		0.682	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D16	HGNC	protein_coding	OTTHUMT00000437145.1	C	NM_019020		77984149	-1	no_errors	ENST00000310924	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77984149	C	T	77984149	3	4	177	1	0	0	0	0	1	0	0	0	15635	893	31	1	1754	1	TBC1D16	17	77984149	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	17933950	77984149	3211061	39	33447										
RNF213	57674	genome.wustl.edu	37	chr17	78326837	78326837	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	gtcaccatcagccagctgttCgcgcccggagacttgcctga	11	15	2	2	rs372098453		TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr17:78326837C>T	ENST00000582970.1	+	33	10544	c.10401C>T	c.(10399-10401)ttC>ttT	p.F3467F	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.F3516F|RNF213_ENST00000336301.6_Silent_p.F1540F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3467					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCAGCTGTTCGCGCCCGGAG	0.632													C|||	1	0.000199681	0	0	5008	,	,		19968	0.001		0	False		,,,				2504	0																0								C		0,4406		0,0,2203	70	64	66		10548	2.5	0.3	17		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF213	NM_020914.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		3516/5257	78326837	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10401C>T	17.37:g.78326837C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.F3467	ENST00000582970.1	37	c.10401	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.632	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78326837	1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.479	T	T	78326837	C	T	78326837	2	4	177	1	0	0	0	0	0	0	0	1	13507	883	31	1		1	RNF213	17	78326837	Silent	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	342688	78326837	2868373	40	33448										
ZNF57	126295	genome.wustl.edu	37	chr19	2917298	2917298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	cagagaaaacctacaaatgcGagcagtgtcggatggcgttt	12	8	0	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr19:2917298G>A	ENST00000306908.5	+	4	827	c.679G>A	c.(679-681)Gag>Aag	p.E227K	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.E195K	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACAAATGCGAGCAGTGTCG	0.473																																					NSCLC(150;910 1964 4303 10464 26498)												0													99	88	92					19																	2917298		2203	4300	6503	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.679G>A	19.37:g.2917298G>A	ENSP00000303696:p.Glu227Lys		Q8N6R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E227K	ENST00000306908.5	37	c.679	CCDS12098.1	19	.	.	.	.	.	.	.	.	.	.	G	1.940	-0.443754	0.04604	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.15256	2.44;2.44	2.34	-1.38	0.09027	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	L	0.31065	0.9	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.41945	-0.9480	9	0.02654	T	1	.	3.4674	0.07554	0.338:0.0:0.4501:0.2119	.	227	Q68EA5	ZNF57_HUMAN	K	227;229;195	ENSP00000303696:E227K;ENSP00000430223:E195K	ENSP00000303696:E227K	E	+	1	0	ZNF57	2868298	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.843000	0.00095	-0.581000	0.05937	-0.424000	0.05967	GAG	ZNF57	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF57	HGNC	protein_coding	OTTHUMT00000378969.1	G	NM_173480		2917298	1	no_errors	ENST00000306908	ensembl	human	known	70_37	missense	SNP	0.000	A	A	2917298	G	A	2917298	3	1	177	1	0	0	0	0	1	0	0	0	18031	1059	37	1	693	1	ZNF57	19	2917298	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09		2917298	56211685	41	33449										
ADAMTS10	81794	genome.wustl.edu	37	chr19	8645823	8645823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	acatctggcggaagtaggctCggctgcagaactgaaatttg	13	8	1	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr19:8645823C>T	ENST00000597188.1	-	26	3536	c.3266G>A	c.(3265-3267)cGa>cAa	p.R1089Q	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R576Q|AC130469.2_ENST00000597256.1_RNA|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.R1089Q	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1089	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAAGTAGGCTCGGCTGCAGAA	0.632											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													41	34	36					19																	8645823		2203	4300	6503	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.3266G>A	19.37:g.8645823C>T	ENSP00000471851:p.Arg1089Gln	650	M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1089Q	ENST00000597188.1	37	c.3266	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.925092	0.97110	.	.	ENSG00000142303	ENST00000270328	T	0.47528	0.84	5.47	5.47	0.80525	PLAC (2);	0.000000	0.64402	U	0.000003	T	0.63414	0.2509	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56208	-0.8017	10	0.24483	T	0.36	.	18.3281	0.90260	0.0:1.0:0.0:0.0	.	1089;576	Q9H324;E9PCI6	ATS10_HUMAN;.	Q	1089	ENSP00000270328:R1089Q	ENSP00000270328:R1089Q	R	-	2	0	ADAMTS10	8551823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.396000	0.79891	2.566000	0.86566	0.549000	0.68633	CGA	ADAMTS10	-	pfam_PLAC,pfscan_PLAC		0.632	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	C	NM_030957		8645823	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8645823	C	T	8645823	3	4	177	1	0	0	0	0	1	0	0	0	256	884	31	1	49	1	ADAMTS10	19	8645823	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	5728525	8645823	50483160	42	33450										
CALR	811	genome.wustl.edu	37	chr19	13054640	13054640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	gaggacaaggaggatgatgaGgacaaagatgaggatgagga	18	2	0	5			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr19:13054640G>T	ENST00000316448.5	+	9	1240	c.1167G>T	c.(1165-1167)gaG>gaT	p.E389D	RAD23A_ENST00000586534.1_5'Flank|RAD23A_ENST00000592268.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000541222.1_5'Flank|RAD23A_ENST00000316856.3_5'Flank	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	389	Asp/Glu/Lys-rich.|C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	aggatgatgaggacaaagatg	0.542																																																	0													263	208	226					19																	13054640		2201	4297	6498	SO:0001583	missense	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1167G>T	19.37:g.13054640G>T	ENSP00000320866:p.Glu389Asp		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex	p.E389D	ENST00000316448.5	37	c.1167	CCDS12288.1	19	.	.	.	.	.	.	.	.	.	.	G	8.192	0.796296	0.16327	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.05649	3.41	5.29	-9.28	0.00656	.	0.566492	0.18123	N	0.150990	T	0.02083	0.0065	N	0.24115	0.695	0.52501	D	0.999959	B	0.02656	0.0	B	0.01281	0.0	T	0.44862	-0.9300	10	0.09338	T	0.73	-13.3376	1.76	0.02990	0.1525:0.1622:0.2526:0.4327	.	389	P27797	CALR_HUMAN	D	389;268	ENSP00000320866:E389D	ENSP00000320866:E389D	E	+	3	2	CALR	12915640	0.000000	0.05858	0.322000	0.25334	0.385000	0.30292	-2.805000	0.00758	-0.793000	0.04475	0.555000	0.69702	GAG	CALR	-	pirsf_Calreticulin		0.542	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1	G	NM_004343		13054640	1	no_errors	ENST00000316448	ensembl	human	known	70_37	missense	SNP	0.958	T	T	13054640	G	T	13054640	3	4	177	1	0	0	0	0	1	0	0	0	2597	991	35	4	1201	4	CALR	19	13054640	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	4408817	13054640	46074343	43	33451										
ANKRD27	84079	genome.wustl.edu	37	chr19	33135369	33135369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ttcagggaaaagggatctgaGggtgccaaaggctcttctga	14	7	4	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr19:33135369G>A	ENST00000306065.4	-	5	545	c.387C>T	c.(385-387)ccC>ccT	p.P129P	ANKRD27_ENST00000587352.1_Silent_p.P129P	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	129					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGGGATCTGAGGGTGCCAAAG	0.507																																																	0													200	214	209					19																	33135369		2203	4300	6503	SO:0001819	synonymous_variant	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.387C>T	19.37:g.33135369G>A			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	NULL	p.P77L	ENST00000306065.4	37	c.230	CCDS32986.1	19																																																																																			ANKRD27	-	NULL		0.507	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	G	NM_032139		33135369	-1	no_errors	ENST00000588700	ensembl	human	known	70_37	missense	SNP	0.412	A	A	33135369	G	A	33135369	2	1	177	1	0	0	0	0	0	0	0	1	655	987	35	4		4	ANKRD27	19	33135369	Silent	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	20080729	33135369	25993614	44	33452										
LIN37	126393	genome.wustl.edu	37	chr19	36243848	36243848	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ttcccccaccagcggaggaaGaagaggagggagatggatga	16	8	0	4			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr19:36243848G>C	ENST00000592984.1	-	0	1634				AC002398.9_ENST00000591613.2_3'UTR|AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Missense_Mutation_p.K75N			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCGGAGGAAGAAGAGGAGGG	0.642																																																	0													30	35	33					19																	36243848		2051	4195	6246	SO:0001628	intergenic_variant	55957			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36243848G>C			O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	NULL	p.K75N	ENST00000592984.1	37	c.225	CCDS12475.1	19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262638	0.80358	.	.	ENSG00000188223	ENST00000301159	T	0.39229	1.09	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.69320	-0.5176	10	0.72032	D	0.01	-1.7527	14.5201	0.67844	0.0:0.0:1.0:0.0	.	75	Q96GY3	LIN37_HUMAN	N	75	ENSP00000301159:K75N	ENSP00000301159:K75N	K	+	3	2	LIN37	40935688	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.099000	0.71466	2.415000	0.81967	0.462000	0.41574	AAG	LIN37	-	NULL		0.642	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN37	HGNC	protein_coding	OTTHUMT00000109498.3	G	NM_144617		36243848	1	no_errors	ENST00000301159	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36243848	G	C	36243848	1	2	177	0	1	0	0	0	0	0	0	0	8828	933	33	1		1	LIN37	19	36243848	IGR	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09	3108479	36243848	22885135	45	33453										
FPR1	2357	genome.wustl.edu	37	chr19	52249272	52249272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	actggtttgggttgagtcctCggtcagggccctctccagac	13	12	2	2	rs551338523		TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr19:52249272C>T	ENST00000595042.1	-	3	1117	c.976G>A	c.(976-978)Gag>Aag	p.E326K	FPR1_ENST00000304748.4_Missense_Mutation_p.E326K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	326					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTTGAGTCCTCGGTCAGGGCC	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		17651	0		0	False		,,,				2504	0																0													134	128	130					19																	52249272		2203	4300	6503	SO:0001583	missense	2357			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.976G>A	19.37:g.52249272C>T	ENSP00000471493:p.Glu326Lys		Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.E326K	ENST00000595042.1	37	c.976	CCDS12839.1	19	.	.	.	.	.	.	.	.	.	.	.	23.8	4.458181	0.84317	.	.	ENSG00000171051	ENST00000304748	T	0.38240	1.15	3.55	3.55	0.40652	.	0.162142	0.39687	N	0.001283	T	0.65780	0.2724	M	0.91196	3.185	0.43824	D	0.99639	D	0.89917	1.0	D	0.79108	0.992	T	0.75436	-0.3318	10	0.87932	D	0	.	13.4069	0.60919	0.0:1.0:0.0:0.0	.	326	P21462	FPR1_HUMAN	K	326	ENSP00000302707:E326K	ENSP00000302707:E326K	E	-	1	0	FPR1	56941084	1.000000	0.71417	0.846000	0.33378	0.055000	0.15305	6.726000	0.74758	1.907000	0.55213	0.650000	0.86243	GAG	FPR1	-	NULL		0.572	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR1	HGNC	protein_coding	OTTHUMT00000466905.1	C	NM_002029		52249272	-1	no_errors	ENST00000304748	ensembl	human	known	70_37	missense	SNP	0.996	T	T	52249272	C	T	52249272	3	4	177	1	0	0	0	0	1	0	0	0	6056	893	31	1	80	1	FPR1	19	52249272	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	16005424	52249272	6879711	46	33454										
IFNAR1	3454	genome.wustl.edu	37	chr21	34715718	34715718	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	agttatctggaaaaactcttCaggtgtagaagtaagcatta	9	5	3	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr21:34715718C>T	ENST00000270139.3	+	4	673	c.521C>T	c.(520-522)tCa>tTa	p.S174L	IFNAR1_ENST00000416947.2_Missense_Mutation_p.S105L|IFNAR1_ENST00000442357.2_Missense_Mutation_p.S174L	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	174	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	AAAAACTCTTCAGGTGTAGAA	0.318																																					Esophageal Squamous(73;817 1211 32990 35667 42746)												0													128	136	133					21																	34715718		2203	4300	6503	SO:0001583	missense	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.521C>T	21.37:g.34715718C>T	ENSP00000270139:p.Ser174Leu		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1	p.S174L	ENST00000270139.3	37	c.521	CCDS13624.1	21	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175959	0.57692	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.52526	0.66;0.66;0.66	5.59	4.69	0.59074	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.860316	0.10357	N	0.684432	T	0.66848	0.2831	M	0.78637	2.42	0.35711	D	0.816411	D	0.71674	0.998	D	0.63033	0.91	T	0.68788	-0.5316	10	0.54805	T	0.06	-4.7047	10.8303	0.46656	0.0:0.9117:0.0:0.0883	.	174	P17181	INAR1_HUMAN	L	105;174;174	ENSP00000395606:S105L;ENSP00000270139:S174L;ENSP00000407406:S174L	ENSP00000270139:S174L	S	+	2	0	IFNAR1	33637588	0.957000	0.32711	0.062000	0.19696	0.367000	0.29736	2.288000	0.43514	1.322000	0.45245	0.650000	0.86243	TCA	IFNAR1	-	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1		0.318	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNAR1	HGNC	protein_coding	OTTHUMT00000139823.4	C			34715718	1	no_errors	ENST00000270139	ensembl	human	known	70_37	missense	SNP	0.832	T	T	34715718	C	T	34715718	3	4	177	1	0	0	0	0	1	0	0	0	7564	838	29	1	535	1	IFNAR1	21	34715718	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09		34715718	13414177	47	33455										
MORC3	23515	genome.wustl.edu	37	chr21	37732332	37732332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ctgatgggatggatcaacttCctgaaaaatggtattgctcc	10	8	1	2			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr21:37732332C>T	ENST00000400485.1	+	11	1364	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	MORC3_ENST00000487909.1_3'UTR|AP000692.9_ENST00000397184.2_RNA	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	430					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGATCAACTTCCTGAAAAATG	0.448																																																	0													199	186	190					21																	37732332		2011	4197	6208	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1288C>T	21.37:g.37732332C>T	ENSP00000383333:p.Pro430Ser		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.P430S	ENST00000400485.1	37	c.1288	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859646	0.91433	.	.	ENSG00000159256	ENST00000400485	T	0.19394	2.15	5.68	5.68	0.88126	Zinc finger, CW-type (2);	0.000000	0.85682	D	0.000000	T	0.39064	0.1064	M	0.76938	2.355	0.80722	D	1	P	0.44309	0.832	P	0.51415	0.669	T	0.17349	-1.0372	10	0.62326	D	0.03	-14.0654	13.0594	0.58997	0.0:0.9267:0.0:0.0733	.	430	Q14149	MORC3_HUMAN	S	430	ENSP00000383333:P430S	ENSP00000383333:P430S	P	+	1	0	MORC3	36654202	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.596000	0.82721	2.672000	0.90937	0.557000	0.71058	CCT	MORC3	-	pfam_Znf_CW,pfscan_Znf_CW		0.448	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	C	NM_015358		37732332	1	no_errors	ENST00000400485	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37732332	C	T	37732332	3	4	177	1	0	0	0	0	1	0	0	0	9726	855	30	1	1330	1	MORC3	21	37732332	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	3016614	37732332	10397563	48	33456										
EP300	2033	genome.wustl.edu	37	chr22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	gagtatacatatcttacctcGatagtgttcatttcttccgt	6	9	3	0			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	7	Substitution - Missense(7)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)											98	93	95					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1399N	ENST00000263253.7	37	c.4195	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41565529	1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41565529	G	A	41565529	3	1	177	1	0	0	0	0	1	0	0	0	5160	1058	37	1	4297	1	EP300	22	41565529	Missense_Mutation	SNP	G	TCGA-MY-A5BE-01A-21D-A26G-09		41565529	9739037	49	33457										
WDR13	64743	genome.wustl.edu	37	chrX	48458814	48458814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ctgccccacccacagtgcttCgcgtgctacggggccacacc	10	19	0	0			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chrX:48458814C>T	ENST00000218056.5	+	5	1136	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	WDR13_ENST00000376729.5_Missense_Mutation_p.R211C	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	211						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CACAGTGCTTCGCGTGCTACG	0.647																																																	0													96	61	73					X																	48458814		2203	4300	6503	SO:0001583	missense	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.631C>T	X.37:g.48458814C>T	ENSP00000218056:p.Arg211Cys		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R211C	ENST00000218056.5	37	c.631	CCDS14302.1	X	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720249	0.30503	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.67171	-0.25;-0.25	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.307062	0.36778	N	0.002418	T	0.57844	0.2081	L	0.35723	1.085	0.39456	D	0.967488	B;B	0.10296	0.003;0.001	B;B	0.10450	0.004;0.005	T	0.57201	-0.7852	10	0.44086	T	0.13	-9.7846	14.6671	0.68915	0.0:1.0:0.0:0.0	.	89;211	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	C	211	ENSP00000365919:R211C;ENSP00000218056:R211C	ENSP00000218056:R211C	R	+	1	0	WDR13	48343758	1.000000	0.71417	0.850000	0.33497	0.421000	0.31385	3.550000	0.53691	2.044000	0.60594	0.436000	0.28706	CGC	WDR13	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.647	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	C			48458814	1	no_errors	ENST00000218056	ensembl	human	known	70_37	missense	SNP	0.995	T	T	48458814	C	T	48458814	3	4	177	1	0	0	0	0	1	0	0	0	17306	884	31	1	649	1	WDR13	23	48458814	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09		48458814	106811746	50	33458										
FAAH2	158584	genome.wustl.edu	37	chrX	57405196	57405196	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ctggcccccatgttgaaggtCatggcaggacctgggatcaa	13	11	2	1			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chrX:57405196C>A	ENST00000374900.4	+	6	975	c.855C>A	c.(853-855)gtC>gtA	p.V285V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	285						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TGTTGAAGGTCATGGCAGGAC	0.453										HNSCC(52;0.14)																																							0													131	99	110					X																	57405196		2203	4300	6503	SO:0001819	synonymous_variant	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.855C>A	X.37:g.57405196C>A			Q86VT2|Q96N98	Silent	SNP	pfam_Amidase,superfamily_Amidase_dom	p.V285	ENST00000374900.4	37	c.855	CCDS14375.1	X																																																																																			FAAH2	-	pfam_Amidase,superfamily_Amidase_dom		0.453	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	C	NM_174912		57405196	1	no_errors	ENST00000374900	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57405196	C	A	57405196	2	1	177	1	0	0	0	0	0	0	0	1	5369	813	29	3		3	FAAH2	23	57405196	Silent	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	8946382	57405196	97865364	51	33459										
GPRASP1	9737	genome.wustl.edu	37	chrX	101911753	101911753	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	13	0.043830071026691	1.72572314049587	3.89393939393939	1.16818181818182	1	1	5	ggaaggggccattgttgggtCttggtttgaggctgaagatg	18	4	1	3			TCGA-MY-A5BE-01A-21D-A26G-09	TCGA-MY-A5BE-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d7c777ea-be05-4bca-966a-479f3d3b0461	927cdf95-d9ff-430f-9e97-a6eb590774bc	g.chrX:101911753C>T	ENST00000361600.5	+	5	3713	c.2912C>T	c.(2911-2913)tCt>tTt	p.S971F	GPRASP1_ENST00000415986.1_Missense_Mutation_p.S971F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S971F|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S971F	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	971	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTGTTGGGTCTTGGTTTGAG	0.502																																																	0													133	118	123					X																	101911753		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2912C>T	X.37:g.101911753C>T	ENSP00000355146:p.Ser971Phe		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S971F	ENST00000361600.5	37	c.2912	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	1.980	-0.434356	0.04669	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	2.82	-0.666	0.11399	.	.	.	.	.	T	0.04907	0.0132	N	0.12471	0.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39121	-0.9629	9	0.42905	T	0.14	-0.4439	2.3419	0.04262	0.4024:0.2571:0.0:0.3404	.	971	Q5JY77	GASP1_HUMAN	F	971	ENSP00000393691:S971F;ENSP00000409420:S971F;ENSP00000355146:S971F;ENSP00000445683:S971F	ENSP00000355146:S971F	S	+	2	0	GPRASP1	101798409	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.454000	0.21827	-0.260000	0.09418	-0.568000	0.04159	TCT	GPRASP1	-	NULL		0.502	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	C	NM_014710		101911753	1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.000	T	T	101911753	C	T	101911753	3	4	177	1	0	0	0	0	1	0	0	0	6742	913	32	1	2914	1	GPRASP1	23	101911753	Missense_Mutation	SNP	C	TCGA-MY-A5BE-01A-21D-A26G-09	44506557	101911753	53358807	52	33460										
RNASEL	6041	genome.wustl.edu	37	chr1	182555093	182555093	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.571428571428571	4	0.00619733536793307	5.61904761904762	9.83333333333333	2.45833333333333	0.485714285714286	0.713852813852814	3	tcggcgattttcttcagtttGagttcaacagcaagcagcag	10	9	3	1			TCGA-MY-A5BF-01A-11D-A26G-09	TCGA-MY-A5BF-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa95dabb-5ce6-4379-a7be-300ceaedbd5c	e1dd766d-8d09-4066-b1fa-535efff9dd32	g.chr1:182555093G>C	ENST00000367559.3	-	2	1102	c.849C>G	c.(847-849)ctC>ctG	p.L283L	RNASEL_ENST00000444138.1_Silent_p.L283L|RNASEL_ENST00000539397.1_Silent_p.L283L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	283					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTTCAGTTTGAGTTCAACAG	0.483																																																	0													107	107	107					1																	182555093		2203	4300	6503	SO:0001819	synonymous_variant	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.849C>G	1.37:g.182555093G>C			Q5W0L2|Q6AI46	Silent	SNP	pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.L283	ENST00000367559.3	37	c.849	CCDS1347.1	1																																																																																			RNASEL	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.483	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEL	HGNC	protein_coding	OTTHUMT00000085189.1	G	NM_021133		182555093	-1	no_errors	ENST00000367559	ensembl	human	known	70_37	silent	SNP	0.000	C	C	182555093	G	C	182555093	2	2	178	1	0	0	0	0	0	0	0	1	13446	1277	45	1		1	RNASEL	1	182555093	Silent	SNP	G	TCGA-MY-A5BF-01A-11D-A26G-09		182555093	66695528	1	33461										
LEFTY2	7044	genome.wustl.edu	37	chr1	226127176	226127176	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.571428571428571	4	0.00619733536793307	5.61904761904762	9.83333333333333	2.45833333333333	0.485714285714286	0.713852813852814	3	gccggacgccagcgggcccaGatgctccctctgcaccgaca	12	18	1	1			TCGA-MY-A5BF-01A-11D-A26G-09	TCGA-MY-A5BF-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa95dabb-5ce6-4379-a7be-300ceaedbd5c	e1dd766d-8d09-4066-b1fa-535efff9dd32	g.chr1:226127176G>A	ENST00000366820.5	-	3	970	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	LEFTY2_ENST00000474493.1_5'UTR|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Silent_p.L174L	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	208					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					AGCGGGCCCAGATGCTCCCTC	0.711																																					Colon(172;116 2643 9098 43333)												0													9	13	12					1																	226127176		2160	4198	6358	SO:0001819	synonymous_variant	7044			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.622C>T	1.37:g.226127176G>A			B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF	p.L208	ENST00000366820.5	37	c.622	CCDS1549.1	1																																																																																			LEFTY2	-	pfam_TGF-b_N,pirsf_LRDF,prints_LRDF		0.711	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEFTY2	HGNC	protein_coding	OTTHUMT00000091152.1	G	NM_003240		226127176	-1	no_errors	ENST00000366820	ensembl	human	known	70_37	silent	SNP	0.972	A	A	226127176	G	A	226127176	2	1	178	1	0	0	0	0	0	0	0	1	8736	933	33	1		1	LEFTY2	1	226127176	Silent	SNP	G	TCGA-MY-A5BF-01A-11D-A26G-09	43572083	226127176	23123445	2	33462										
ALS2CR4	65062	genome.wustl.edu	37	chr2	202501582	202501582	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.571428571428571	4	0.00619733536793307	5.61904761904762	9.83333333333333	2.45833333333333	0.485714285714286	0.713852813852814	3	gggccttcgaccagcagtctGagcaaggccttccaaagaag	12	12	1	2			TCGA-MY-A5BF-01A-11D-A26G-09	TCGA-MY-A5BF-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa95dabb-5ce6-4379-a7be-300ceaedbd5c	e1dd766d-8d09-4066-b1fa-535efff9dd32	g.chr2:202501582G>C	ENST00000409883.2	-	5	279	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	TMEM237_ENST00000409444.2_Missense_Mutation_p.Q47E	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	55					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CCAGCAGTCTGAGCAAGGCCT	0.423																																																	0													45	41	42					2																	202501582		1829	4077	5906	SO:0001583	missense	65062			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.163C>G	2.37:g.202501582G>C	ENSP00000386264:p.Gln55Glu		B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	NULL	p.Q55E	ENST00000409883.2	37	c.163	CCDS46489.1	2	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262927	0.23051	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684	T;T	0.39406	1.08;1.08	5.27	3.45	0.39498	.	0.565014	0.19130	N	0.121952	T	0.34513	0.0900	L	0.41824	1.3	0.25422	N	0.988261	B;B	0.12013	0.005;0.001	B;B	0.13407	0.009;0.003	T	0.16129	-1.0413	10	0.25751	T	0.34	-1.4796	14.3317	0.66561	0.0:0.3447:0.6553:0.0	.	55;79	E9PAR8;Q96Q45	.;TM237_HUMAN	E	47;55;55;77	ENSP00000387203:Q47E;ENSP00000386264:Q55E	ENSP00000387203:Q47E	Q	-	1	0	TMEM237	202209827	0.989000	0.36119	0.133000	0.22050	0.986000	0.74619	2.862000	0.48388	0.768000	0.33290	0.650000	0.86243	CAG	TMEM237	-	NULL		0.423	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM237	HGNC	protein_coding	OTTHUMT00000335753.1	G	NM_152388		202501582	-1	no_errors	ENST00000409883	ensembl	human	known	70_37	missense	SNP	0.627	C	C	202501582	G	C	202501582	3	2	178	1	0	0	0	0	1	0	0	0	554	1299	45	1	1099	1	ALS2CR4	2	202501582	Missense_Mutation	SNP	G	TCGA-MY-A5BF-01A-11D-A26G-09		202501582	40697791	3	33463										
ABCA2	20	genome.wustl.edu	37	chr9	139907932	139907932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.571428571428571	4	0.00619733536793307	5.61904761904762	9.83333333333333	2.45833333333333	0.485714285714286	0.713852813852814	3	ccggtactcgcggcgctcctCgttggcgtaggggatgaaat	15	11	0	1			TCGA-MY-A5BF-01A-11D-A26G-09	TCGA-MY-A5BF-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa95dabb-5ce6-4379-a7be-300ceaedbd5c	e1dd766d-8d09-4066-b1fa-535efff9dd32	g.chr9:139907932C>T	ENST00000371605.3	-	28	4675	c.4528G>A	c.(4528-4530)Gag>Aag	p.E1510K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E1511K|ABCA2_ENST00000265662.5_Missense_Mutation_p.E1511K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1510					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGCGCTCCTCGTTGGCGTAG	0.692																																																	0													39	46	44					9																	139907932		1967	4116	6083	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4528G>A	9.37:g.139907932C>T	ENSP00000360666:p.Glu1510Lys		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1511K	ENST00000371605.3	37	c.4531		9	.	.	.	.	.	.	.	.	.	.	C	36	5.743216	0.96873	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.89415	-2.51;-2.51;-2.51	4.86	4.86	0.63082	.	0.495392	0.17562	U	0.169776	D	0.93288	0.7861	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	D	0.93357	0.6723	10	0.54805	T	0.06	.	17.9576	0.89074	0.0:1.0:0.0:0.0	.	1510;1541	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	K	1511;1510;1541;1511	ENSP00000265662:E1511K;ENSP00000360666:E1510K;ENSP00000344155:E1511K	ENSP00000265662:E1511K	E	-	1	0	ABCA2	139027753	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.980000	0.76160	2.235000	0.73313	0.484000	0.47621	GAG	ABCA2	-	NULL		0.692	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		C	NM_001606		139907932	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139907932	C	T	139907932	3	4	178	1	0	0	0	0	1	0	0	0	32	893	31	1	2863	1	ABCA2	9	139907932	Missense_Mutation	SNP	C	TCGA-MY-A5BF-01A-11D-A26G-09		139907932	1305499	4	33464										
SH2B1	25970	genome.wustl.edu	37	chr16	28877740	28877740	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.571428571428571	4	0.00619733536793307	5.61904761904762	9.83333333333333	2.45833333333333	0.485714285714286	0.713852813852814	3	cgccacatgacctgtcccttGagagctgcagggtgggtggg	16	11	0	2			TCGA-MY-A5BF-01A-11D-A26G-09	TCGA-MY-A5BF-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa95dabb-5ce6-4379-a7be-300ceaedbd5c	e1dd766d-8d09-4066-b1fa-535efff9dd32	g.chr16:28877740G>C	ENST00000322610.8	+	4	764	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.E109Q|SH2B1_ENST00000395532.4_Missense_Mutation_p.E109Q|SH2B1_ENST00000359285.5_Missense_Mutation_p.E109Q|SH2B1_ENST00000538342.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	109	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGTCCCTTGAGAGCTGCAG	0.662																																																	0													33	32	32					16																	28877740		2197	4300	6497	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.325G>C	16.37:g.28877740G>C	ENSP00000321221:p.Glu109Gln		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.E109Q	ENST00000322610.8	37	c.325	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778996	0.70107	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.48201	0.82;0.83;0.83;0.83	4.77	4.77	0.60923	.	0.421578	0.21745	N	0.069763	T	0.34164	0.0888	N	0.14661	0.345	0.30487	N	0.771794	B;B;B	0.24823	0.112;0.112;0.068	B;B;B	0.27076	0.076;0.076;0.051	T	0.27571	-1.0070	10	0.32370	T	0.25	-10.7577	16.6033	0.84821	0.0:0.0:1.0:0.0	.	109;109;109	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	Q	109	ENSP00000321221:E109Q;ENSP00000352232:E109Q;ENSP00000378903:E109Q;ENSP00000337163:E109Q	ENSP00000321221:E109Q	E	+	1	0	SH2B1	28785241	0.972000	0.33761	1.000000	0.80357	0.963000	0.63663	2.113000	0.41902	2.208000	0.71279	0.436000	0.28706	GAG	SH2B1	-	NULL		0.662	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	G	NM_015503		28877740	1	no_errors	ENST00000322610	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28877740	G	C	28877740	3	2	178	1	0	0	0	0	1	0	0	0	14257	1291	45	1	327	1	SH2B1	16	28877740	Missense_Mutation	SNP	G	TCGA-MY-A5BF-01A-11D-A26G-09		28877740	61477013	5	33465										
NR1H2	7376	genome.wustl.edu	37	chr19	50881965	50881965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.571428571428571	4	0.00619733536793307	5.61904761904762	9.83333333333333	2.45833333333333	0.485714285714286	0.713852813852814	3	aggcgagggtgtccagctaaCagcggctcaagaactaatga	13	9	1	2			TCGA-MY-A5BF-01A-11D-A26G-09	TCGA-MY-A5BF-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa95dabb-5ce6-4379-a7be-300ceaedbd5c	e1dd766d-8d09-4066-b1fa-535efff9dd32	g.chr19:50881965C>T	ENST00000253727.5	+	6	894	c.659C>T	c.(658-660)aCa>aTa	p.T220I	NR1H2_ENST00000411902.2_Missense_Mutation_p.T123I|NR1H2_ENST00000599105.1_Missense_Mutation_p.T220I|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Missense_Mutation_p.T220I|NR1H2_ENST00000598168.1_Missense_Mutation_p.T220I	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	220					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GTCCAGCTAACAGCGGCTCAA	0.642																																																	0													48	56	53					19																	50881965		2124	4246	6370	SO:0001583	missense	7376			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.659C>T	19.37:g.50881965C>T	ENSP00000253727:p.Thr220Ile		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.T220I	ENST00000253727.5	37	c.659	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901025	0.52227	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	D;D	0.92249	-3.0;-2.98	4.74	3.69	0.42338	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.64402	D	0.000007	D	0.91202	0.7228	L	0.38175	1.15	0.80722	D	1	P;D;P	0.69078	0.908;0.997;0.909	B;P;P	0.54889	0.36;0.763;0.499	D	0.91658	0.5340	10	0.87932	D	0	.	12.2036	0.54340	0.1722:0.8278:0.0:0.0	.	220;123;221	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	I	220;123;220	ENSP00000253727:T220I;ENSP00000396151:T123I	ENSP00000253727:T220I	T	+	2	0	NR1H2	55573777	.	.	0.067000	0.19924	0.461000	0.32589	.	.	1.331000	0.45412	0.511000	0.50034	ACA	NR1H2	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.642	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	C			50881965	1	no_errors	ENST00000253727	ensembl	human	known	70_37	missense	SNP	0.504	T	T	50881965	C	T	50881965	3	4	178	1	0	0	0	0	1	0	0	0	10641	478	17	4	673	4	NR1H2	19	50881965	Missense_Mutation	SNP	C	TCGA-MY-A5BF-01A-11D-A26G-09		50881965	8247018	6	33466										
NYX	60506	genome.wustl.edu	37	chrX	41333611	41333611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.571428571428571	4	0.00619733536793307	5.61904761904762	9.83333333333333	2.45833333333333	0.485714285714286	0.713852813852814	3	gggcgccttccagaacctctCgggtctcctcgcgctgcacc	11	18	2	1			TCGA-MY-A5BF-01A-11D-A26G-09	TCGA-MY-A5BF-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa95dabb-5ce6-4379-a7be-300ceaedbd5c	e1dd766d-8d09-4066-b1fa-535efff9dd32	g.chrX:41333611C>T	ENST00000342595.2	+	2	1361	c.905C>T	c.(904-906)tCg>tTg	p.S302L	NYX_ENST00000378220.1_Missense_Mutation_p.S302L	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	302					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CAGAACCTCTCGGGTCTCCTC	0.687																																																	0													43	40	41					X																	41333611		2202	4300	6502	SO:0001583	missense	60506			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.905C>T	X.37:g.41333611C>T	ENSP00000340328:p.Ser302Leu		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S302L	ENST00000342595.2	37	c.905	CCDS14256.1	X	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595772	0.66219	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.59772	0.24;0.24	5.19	5.19	0.71726	.	0.057306	0.64402	D	0.000002	T	0.50837	0.1639	L	0.60067	1.865	0.43662	D	0.996082	P	0.48998	0.918	B	0.33454	0.164	T	0.58702	-0.7590	10	0.41790	T	0.15	.	17.8738	0.88818	0.0:1.0:0.0:0.0	.	302	Q9GZU5	NYX_HUMAN	L	302	ENSP00000340328:S302L;ENSP00000367465:S302L	ENSP00000340328:S302L	S	+	2	0	NYX	41218555	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	4.703000	0.61824	2.154000	0.67381	0.600000	0.82982	TCG	NYX	-	smart_Leu-rich_rpt_typical-subtyp		0.687	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	HGNC	protein_coding	OTTHUMT00000056256.1	C	NM_022567		41333611	1	no_errors	ENST00000342595	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41333611	C	T	41333611	3	4	178	1	0	0	0	0	1	0	0	0	10821	893	31	1	911	1	NYX	23	41333611	Missense_Mutation	SNP	C	TCGA-MY-A5BF-01A-11D-A26G-09		41333611	113936949	7	33467										
LY9	4063	genome.wustl.edu	37	chr1	160784494	160784494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ccggcccctaccatgcctacGtgtgctcagaggcctccagc	10	18	1	1	rs199963398		TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr1:160784494G>A	ENST00000263285.6	+	4	1045	c.1015G>A	c.(1015-1017)Gtg>Atg	p.V339M	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.V339M|LY9_ENST00000341032.4_Missense_Mutation_p.V339M|LY9_ENST00000368041.2_Missense_Mutation_p.V299M|LY9_ENST00000368037.5_Missense_Mutation_p.V339M			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	339	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCATGCCTACGTGTGCTCAGA	0.587																																																	0													52	49	50					1																	160784494		2203	4300	6503	SO:0001583	missense	4063			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1015G>A	1.37:g.160784494G>A	ENSP00000263285:p.Val339Met		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.V339M	ENST00000263285.6	37	c.1015	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139648	0.21205	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.01918	4.56;4.56	2.83	-3.34	0.04943	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00724	0.0024	L	0.60455	1.87	0.21445	N	0.99968	P;P;P;P;D;P	0.53151	0.93;0.93;0.82;0.921;0.958;0.93	B;B;B;B;B;B	0.37144	0.122;0.122;0.108;0.212;0.242;0.122	T	0.41520	-0.9504	9	0.87932	D	0	-0.1678	2.6617	0.05028	0.3953:0.0:0.2483:0.3563	.	339;299;299;339;339;339	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	M	339;339;339;339;299;299;241	ENSP00000342921:V339M;ENSP00000263285:V339M	ENSP00000263285:V339M	V	+	1	0	LY9	159051118	0.000000	0.05858	0.004000	0.12327	0.116000	0.19942	-1.249000	0.02888	-0.849000	0.04158	0.563000	0.77884	GTG	LY9	-	smart_Ig_sub		0.587	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3	G	NM_002348		160784494	1	no_errors	ENST00000263285	ensembl	human	known	70_37	missense	SNP	0.007	A	A	160784494	G	A	160784494	3	1	179	1	0	0	0	0	1	0	0	0	9124	1145	40	2	1161	2	LY9	1	160784494	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09		160784494	88466127	1	33468										
FMN2	56776	genome.wustl.edu	37	chr1	240421305	240421305	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	gaatactaatgtctagccttCatttagatatgaaagacata	6	6	2	3			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr1:240421305C>A	ENST00000319653.9	+	7	4356	c.4126C>A	c.(4126-4128)Cat>Aat	p.H1376N	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1376	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTCTAGCCTTCATTTAGATAT	0.323																																																	0													92	91	91					1																	240421305		2203	4298	6501	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4126C>A	1.37:g.240421305C>A	ENSP00000318884:p.His1376Asn		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.H1376N	ENST00000319653.9	37	c.4126	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237558	0.79800	.	.	ENSG00000155816	ENST00000319653;ENST00000441342	T;T	0.61510	1.12;0.1	5.42	5.42	0.78866	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000005	T	0.72391	0.3454	L	0.48877	1.53	0.80722	D	1	P;D;D	0.76494	0.734;0.999;0.999	P;D;D	0.87578	0.772;0.997;0.998	T	0.73930	-0.3827	10	0.87932	D	0	.	19.5833	0.95478	0.0:1.0:0.0:0.0	.	22;5;1376	F5H2C1;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	N	1376;22	ENSP00000318884:H1376N;ENSP00000388922:H22N	ENSP00000318884:H1376N	H	+	1	0	FMN2	238487928	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.245000	0.72398	2.708000	0.92522	0.561000	0.74099	CAT	FMN2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.323	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	C	XM_371352		240421305	1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	1.000	A	A	240421305	C	A	240421305	3	1	179	1	0	0	0	0	1	0	0	0	5968	826	29	3	4152	3	FMN2	1	240421305	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	79636811	240421305	8829316	2	33469										
TRIB2	28951	genome.wustl.edu	37	chr2	12880515	12880515	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cggggagatgatgattccctCtccgacaagcatggctgccc	12	13	1	3			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr2:12880515C>T	ENST00000155926.4	+	3	2046	c.627C>T	c.(625-627)ctC>ctT	p.L209L	MIR3125_ENST00000579927.1_RNA|TRIB2_ENST00000381465.2_Silent_p.L73L	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGATTCCCTCTCCGACAAGC	0.572																																																	0													88	81	83					2																	12880515		2203	4300	6503	SO:0001819	synonymous_variant	28951			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.627C>T	2.37:g.12880515C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L209	ENST00000155926.4	37	c.627	CCDS1683.1	2																																																																																			TRIB2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.572	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000207114.2	C	NM_021643		12880515	1	no_errors	ENST00000155926	ensembl	human	known	70_37	silent	SNP	0.387	T	T	12880515	C	T	12880515	2	4	179	1	0	0	0	0	0	0	0	1	16514	900	32	1		1	TRIB2	2	12880515	Silent	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09		12880515	230318858	3	33470										
GNAT1	2779	genome.wustl.edu	37	chr3	50231284	50231284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	gaccactggcatcatcgagaCgcagttctccttcaaggatc	9	13	3	1	rs375795574		TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr3:50231284C>T	ENST00000433068.1	+	5	604	c.548C>T	c.(547-549)aCg>aTg	p.T183M	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000232461.3_Missense_Mutation_p.T183M	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	183					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATCATCGAGACGCAGTTCTCC	0.652																																																	0								C	MET/THR,MET/THR	0,4406		0,0,2203	81	73	76		548,548	5.7	1	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNAT1	NM_000172.3,NM_144499.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	183/351,183/351	50231284	1,13005	2203	4300	6503	SO:0001583	missense	2779				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.548C>T	3.37:g.50231284C>T	ENSP00000387555:p.Thr183Met		Q4VBN2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.T183M	ENST00000433068.1	37	c.548	CCDS2812.1	3	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407214	0.83230	0.0	1.16E-4	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.89196	-2.48;-2.48	5.7	5.7	0.88788	.	0.045321	0.85682	D	0.000000	D	0.94945	0.8365	M	0.83118	2.625	0.47374	D	0.999403	D	0.89917	1.0	D	0.77004	0.989	D	0.95088	0.8219	10	0.72032	D	0.01	.	18.6092	0.91277	0.0:1.0:0.0:0.0	.	183	P11488	GNAT1_HUMAN	M	183	ENSP00000232461:T183M;ENSP00000387555:T183M	ENSP00000232461:T183M	T	+	2	0	GNAT1	50206288	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	4.464000	0.60134	2.711000	0.92665	0.561000	0.74099	ACG	GNAT1	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I		0.652	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GNAT1	HGNC	protein_coding	OTTHUMT00000345957.1	C	NM_000172		50231284	1	no_errors	ENST00000232461	ensembl	human	known	70_37	missense	SNP	0.991	T	T	50231284	C	T	50231284	3	4	179	1	0	0	0	0	1	0	0	0	6530	536	19	2	566	2	GNAT1	3	50231284	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09		50231284	147791146	4	33471										
VPRBP	9730	genome.wustl.edu	37	chr3	51457980	51457980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	gaagtggttttcctgacaccCgttcaatgagttcagcagca	10	10	2	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr3:51457980C>T	ENST00000335891.5	-	7	1106	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	815	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCCTGACACCCGTTCAATGAG	0.512																																																	0													51	50	50					3																	51457980		2048	4191	6239	SO:0001583	missense	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1097G>A	3.37:g.51457980C>T	ENSP00000338857:p.Arg366Gln		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.R366Q	ENST00000335891.5	37	c.1097		3	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379467	0.82682	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.48522	0.81;0.81	6.06	6.06	0.98353	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	L	0.51914	1.62	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.62412	-0.6860	10	0.54805	T	0.06	-14.923	20.6244	0.99512	0.0:1.0:0.0:0.0	.	815	Q9Y4B6	VPRBP_HUMAN	Q	386;366	ENSP00000393183:R386Q;ENSP00000338857:R366Q	ENSP00000338857:R366Q	R	-	2	0	VPRBP	51433020	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.555000	0.67301	2.879000	0.98667	0.650000	0.86243	CGG	VPRBP	-	superfamily_ARM-type_fold		0.512	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		C	NM_014703		51457980	-1	no_errors	ENST00000335891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51457980	C	T	51457980	3	4	179	1	0	0	0	0	1	0	0	0	17216	652	23	2	2123	2	VPRBP	3	51457980	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	1226696	51457980	146564450	5	33472										
ARF4	378	genome.wustl.edu	37	chr3	57563077	57563077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	catctgctacttcctgaattCtttcacgatcgttgctatct	5	12	4	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr3:57563077C>T	ENST00000303436.6	-	4	563	c.296G>A	c.(295-297)aGa>aAa	p.R99K	ARF4_ENST00000489843.1_5'UTR|ARF4_ENST00000496292.1_Missense_Mutation_p.R72K	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	99					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TTCCTGAATTCTTTCACGATC	0.348																																																	0													124	138	133					3																	57563077		2203	4300	6503	SO:0001583	missense	378			M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"ADP-ribosylation factors"	655	protein-coding gene	gene with protein product		601177	"ADP-ribosylation factor 2"	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.296G>A	3.37:g.57563077C>T	ENSP00000306010:p.Arg99Lys		B2R7J7|P21371	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R99K	ENST00000303436.6	37	c.296	CCDS2884.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.810618	0.96975	.	.	ENSG00000168374	ENST00000303436;ENST00000496292;ENST00000463880	T;T;T	0.78246	-1.16;-1.16;-1.16	5.6	5.6	0.85130	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90988	0.7166	H	0.95294	3.65	0.80722	D	1	P;P	0.49961	0.924;0.93	P;P	0.57911	0.765;0.829	D	0.93161	0.6558	10	0.87932	D	0	-11.6579	19.618	0.95643	0.0:1.0:0.0:0.0	.	72;99	C9JAK5;P18085	.;ARF4_HUMAN	K	99;72;99	ENSP00000306010:R99K;ENSP00000417501:R72K;ENSP00000420254:R99K	ENSP00000306010:R99K	R	-	2	0	ARF4	57538117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.786000	0.85741	2.635000	0.89317	0.650000	0.86243	AGA	ARF4	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.348	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF4	HGNC	protein_coding	OTTHUMT00000351443.1	C	NM_001660		57563077	-1	no_errors	ENST00000303436	ensembl	human	known	70_37	missense	SNP	1.000	T	T	57563077	C	T	57563077	3	4	179	1	0	0	0	0	1	0	0	0	846	913	32	1	258	1	ARF4	3	57563077	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	6105097	57563077	140459353	6	33473										
GPR128	84873	genome.wustl.edu	37	chr3	100364821	100364821	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	catgcggctttgtagtttatCaaaatgacaagcttttccaa	7	8	1	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr3:100364821C>T	ENST00000273352.3	+	9	1247	c.979C>T	c.(979-981)Caa>Taa	p.Q327*	GPR128_ENST00000475887.1_Nonsense_Mutation_p.Q32*|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	327					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTAGTTTATCAAAATGACAA	0.318																																					Pancreas(87;185 1975 7223 18722)												0													71	69	69					3																	100364821		2202	4300	6502	SO:0001587	stop_gained	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.979C>T	3.37:g.100364821C>T	ENSP00000273352:p.Gln327*		Q14D94|Q86SQ2	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Q327*	ENST00000273352.3	37	c.979	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.130280	0.98085	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	.	.	.	5.19	4.25	0.50352	.	0.000000	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6162	0.56578	0.0:0.8333:0.1667:0.0	.	.	.	.	X	327;32	.	ENSP00000273352:Q327X	Q	+	1	0	GPR128	101847511	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.322000	0.43814	2.568000	0.86640	0.655000	0.94253	CAA	GPR128	-	NULL		0.318	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	C			100364821	1	no_errors	ENST00000273352	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	100364821	C	T	100364821	4	4	179	1	0	0	0	0	0	1	0	0	6660	827	29	1	1013	1	GPR128	3	100364821	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	42801744	100364821	97657609	7	33474										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936091	G	A	178936091	3	1	179	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1667	1	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	78571270	178936091	19086339	8	33475										
MUC4	4585	genome.wustl.edu	37	chr3	195492148	195492148	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	aaggaggtgtcacctatgctGacgggttggaatcgtaagtc	14	7	1	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr3:195492148G>A	ENST00000346145.4	-	8	1122	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	MUC4_ENST00000463781.3_Silent_p.V4597V|MUC4_ENST00000475231.1_Silent_p.V4545V|MUC4_ENST00000349607.4_Silent_p.V310V	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1354					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACCTATGCTGACGGGTTGGA	0.652																																																	0													32	31	32					3																	195492148		2203	4300	6503	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1083C>T	3.37:g.195492148G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.V4597	ENST00000346145.4	37	c.13791	CCDS3310.1	3																																																																																			MUC4	-	pfam_AMOP,smart_AMOP,pfscan_AMOP		0.652	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	G	NM_018406		195492148	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.000	A	A	195492148	G	A	195492148	2	1	179	1	0	0	0	0	0	0	0	1	10001	1277	45	1		1	MUC4	3	195492148	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	16556057	195492148	2530282	9	33476										
KDM3B	51780	genome.wustl.edu	37	chr5	137727474	137727474	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cagtgggggcccaagcctctCtgccatggggaatggccgct	15	13	1	0			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr5:137727474C>G	ENST00000314358.5	+	8	2353	c.2153C>G	c.(2152-2154)tCt>tGt	p.S718C	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.S374C	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	718	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCAAGCCTCTCTGCCATGGGG	0.562																																																	0													42	50	47					5																	137727474		2198	4297	6495	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2153C>G	5.37:g.137727474C>G	ENSP00000326563:p.Ser718Cys		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S718C	ENST00000314358.5	37	c.2153	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605898	0.46527	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.73897	-0.26;-0.79	5.42	5.42	0.78866	.	0.057976	0.64402	D	0.000001	T	0.74869	0.3773	N	0.19112	0.55	0.80722	D	1	D;P	0.54207	0.965;0.94	P;P	0.55824	0.785;0.707	T	0.77133	-0.2700	10	0.52906	T	0.07	-8.4696	19.1662	0.93559	0.0:1.0:0.0:0.0	.	374;718	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	C	718;508;374	ENSP00000326563:S718C;ENSP00000378335:S374C	ENSP00000326563:S718C	S	+	2	0	KDM3B	137755373	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.529000	0.45632	2.694000	0.91930	0.655000	0.94253	TCT	KDM3B	-	NULL		0.562	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	C	NM_016604		137727474	1	no_errors	ENST00000314358	ensembl	human	known	70_37	missense	SNP	1.000	G	G	137727474	C	G	137727474	3	3	179	1	0	0	0	0	1	0	0	0	8147	913	32	1	2183	1	KDM3B	5	137727474	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09		137727474	43187786	10	33477			1	138		4	4	304	C		2.573429e-11
KDM3B	51780	genome.wustl.edu	37	chr5	137727607	137727607	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cagcaggacaatcccctcctCaaaacctttagtaacgtctt	5	14	2	0			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr5:137727607C>G	ENST00000314358.5	+	8	2486	c.2286C>G	c.(2284-2286)ctC>ctG	p.L762L	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Silent_p.L418L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	762					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATCCCCTCCTCAAAACCTTTA	0.547																																																	0													155	173	167					5																	137727607		2203	4300	6503	SO:0001819	synonymous_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2286C>G	5.37:g.137727607C>G			A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L762	ENST00000314358.5	37	c.2286	CCDS34242.1	5																																																																																			KDM3B	-	NULL		0.547	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	C	NM_016604		137727607	1	no_errors	ENST00000314358	ensembl	human	known	70_37	silent	SNP	1.000	G	G	137727607	C	G	137727607	2	3	179	1	0	0	0	0	0	0	0	1	8147	813	29	1		1	KDM3B	5	137727607	Silent	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	133	137727607	43187653	11	33478			1	138		4	4	304	C		2.573429e-11
KDM3B	51780	genome.wustl.edu	37	chr5	137727650	137727650	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	gcaggcactcaggcggctttCtgtcctccccggcagatttt	11	14	2	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr5:137727650C>G	ENST00000314358.5	+	8	2529	c.2329C>G	c.(2329-2331)Ctg>Gtg	p.L777V	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.L433V	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	777					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGGCGGCTTTCTGTCCTCCCC	0.532																																																	0													184	203	197					5																	137727650		2203	4300	6503	SO:0001583	missense	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2329C>G	5.37:g.137727650C>G	ENSP00000326563:p.Leu777Val		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L777V	ENST00000314358.5	37	c.2329	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806653	0.16467	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.70164	0.12;-0.46	5.52	4.59	0.56863	.	0.335552	0.26262	N	0.025384	T	0.45074	0.1324	N	0.19112	0.55	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.13407	0.009;0.004	T	0.33650	-0.9860	10	0.12766	T	0.61	-24.2058	7.571	0.27907	0.0:0.7197:0.1695:0.1109	.	433;777	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	V	777;567;433	ENSP00000326563:L777V;ENSP00000378335:L433V	ENSP00000326563:L777V	L	+	1	2	KDM3B	137755549	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.975000	0.40569	2.761000	0.94854	0.655000	0.94253	CTG	KDM3B	-	NULL		0.532	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	C	NM_016604		137727650	1	no_errors	ENST00000314358	ensembl	human	known	70_37	missense	SNP	1.000	G	G	137727650	C	G	137727650	3	3	179	1	0	0	0	0	1	0	0	0	8147	912	32	1	2359	1	KDM3B	5	137727650	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	43	137727650	43187610	12	33479			1	138		4	4	304	C		2.573429e-11
KDM3B	51780	genome.wustl.edu	37	chr5	137727777	137727777	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cagcaccaacagtgacctgtCagatttgagtgactctgagg	11	10	2	5			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr5:137727777C>G	ENST00000314358.5	+	8	2656	c.2456C>G	c.(2455-2457)tCa>tGa	p.S819*	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Nonsense_Mutation_p.S475*	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	819					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGTGACCTGTCAGATTTGAGT	0.537																																																	0													75	81	79					5																	137727777		2203	4300	6503	SO:0001587	stop_gained	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2456C>G	5.37:g.137727777C>G	ENSP00000326563:p.Ser819*		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S819*	ENST00000314358.5	37	c.2456	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.569072	0.96540	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	.	.	.	5.83	5.83	0.93111	.	0.147544	0.47852	D	0.000207	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-19.1843	15.5741	0.76362	0.0:0.8628:0.1372:0.0	.	.	.	.	X	819;609;475	.	ENSP00000326563:S819X	S	+	2	0	KDM3B	137755676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.500000	0.66943	2.762000	0.94881	0.561000	0.74099	TCA	KDM3B	-	NULL		0.537	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	C	NM_016604		137727777	1	no_errors	ENST00000314358	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	137727777	C	G	137727777	4	3	179	1	0	0	0	0	0	1	0	0	8147	838	29	1	2486	1	KDM3B	5	137727777	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	127	137727777	43187483	13	33480			1	138		4	4	304	C		2.573429e-11
VARS	7407	genome.wustl.edu	37	chr6	31746941	31746941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	atcagaagccagagccacagCgcaaccctggggggcgggag	16	12	1	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr6:31746941C>T	ENST00000375663.3	-	29	3969	c.3529G>A	c.(3529-3531)Gct>Act	p.A1177T	VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000375686.3_5'Flank|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375688.4_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1177					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGAGCCACAGCGCAACCCTGG	0.697																																																	0													14	13	13					6																	31746941		1496	2685	4181	SO:0001583	missense	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3529G>A	6.37:g.31746941C>T	ENSP00000364815:p.Ala1177Thr		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.A1177T	ENST00000375663.3	37	c.3529	CCDS34412.1	6	.	.	.	.	.	.	.	.	.	.	C	17.77	3.469962	0.63625	.	.	ENSG00000204394	ENST00000375663	T	0.12147	2.71	4.7	4.7	0.59300	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.01776	-1.1276	10	0.56958	D	0.05	-11.6359	13.0074	0.58712	0.0:1.0:0.0:0.0	.	1177	P26640	SYVC_HUMAN	T	1177	ENSP00000364815:A1177T	ENSP00000364815:A1177T	A	-	1	0	VARS	31854920	1.000000	0.71417	0.986000	0.45419	0.084000	0.17831	5.956000	0.70315	2.451000	0.82905	0.313000	0.20887	GCT	VARS	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase		0.697	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	C	NM_006295		31746941	-1	no_errors	ENST00000375663	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31746941	C	T	31746941	3	4	179	1	0	0	0	0	1	0	0	0	17154	768	27	2	273	2	VARS	6	31746941	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09		31746941	139368126	14	33481										
TBP	6908	genome.wustl.edu	37	chr6	170871052	170871053	+	Frame_Shift_Del	DEL	GC	GC	-													0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cagcagcaacagcaacagcaGcagcagcagcagcagcagca					rs112083427|rs369312237	byFrequency	TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr6:170871052_170871053delGC	ENST00000392092.2	+	3	507_508	c.228_229delGC	c.(226-231)cagcagfs	p.QQ76fs	TBP_ENST00000540980.1_Frame_Shift_Del_p.QQ56fs|TBP_ENST00000230354.6_Frame_Shift_Del_p.QQ76fs	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagca	0.574																																																	4	Substitution - coding silent(4)	lung(3)|prostate(1)																																								SO:0001589	frameshift_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228_229delGC	6.37:g.170871052_170871053delGC	ENSP00000375942:p.Gln76fs		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Frame_Shift_Del	DEL	pfam_TBP,prints_TBP	p.Q77fs	ENST00000392092.2	37	c.228_229	CCDS5315.1	6																																																																																			TBP	-	NULL		0.574	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	GC	NM_003194		170871053	1	no_errors	ENST00000230354	ensembl	human	known	70_37	frame_shift_del	DEL	0.994:0.996	-	-	170871053	GC	-	170871052	7	5	179	1	0	1	0	1	0	0	0	0	15674	962	34	0	234	0	TBP	6	170871052	Frame_Shift_Del	DEL	GC	TCGA-Q1-A5R1-01A-11D-A28B-09	139124111	170871052	244015	15	33482	218	2								
TBP	6908	genome.wustl.edu	37	chr6	170871055	170871055	+	Frame_Shift_Del	DEL	G	G	-													0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cagcaacagcaacagcagcaGcagcagcagcagcagcagca					rs112928724|rs369312237		TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr6:170871055delG	ENST00000392092.2	+	3	510	c.231delG	c.(229-231)cagfs	p.Q95fs	TBP_ENST00000540980.1_Frame_Shift_Del_p.Q75fs|TBP_ENST00000230354.6_Frame_Shift_Del_p.Q95fs	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572																																																	0													14	18	17					6																	170871055		1934	3804	5738	SO:0001589	frameshift_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.231delG	6.37:g.170871055delG	ENSP00000375942:p.Gln95fs		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Frame_Shift_Del	DEL	pfam_TBP,prints_TBP	p.Q77fs	ENST00000392092.2	37	c.231	CCDS5315.1	6																																																																																			TBP	-	NULL		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	G	NM_003194		170871055	1	no_errors	ENST00000230354	ensembl	human	known	70_37	frame_shift_del	DEL	0.993	-	-	170871055	G	-	170871055	7	5	179	1	0	1	0	1	0	0	0	0	15674	962	34	0	237	0	TBP	6	170871055	Frame_Shift_Del	DEL	G	TCGA-Q1-A5R1-01A-11D-A28B-09	3	170871055	244012	16	33483	218	2								
C7orf57	136288	genome.wustl.edu	37	chr7	48081068	48081068	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ctcggagatactggataaaaGaaacagattcggaatatgtg	11	5	0	3			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr7:48081068G>C	ENST00000348904.3	+	3	405	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.E110Q|C7orf57_ENST00000430738.1_Missense_Mutation_p.E110Q|C7orf57_ENST00000539619.1_Missense_Mutation_p.E65Q	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	65										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CTGGATAAAAGAAACAGATTC	0.607																																																	0													38	41	40					7																	48081068		1912	4125	6037	SO:0001583	missense	136288			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.193G>C	7.37:g.48081068G>C	ENSP00000335500:p.Glu65Gln		C9JBJ8	Missense_Mutation	SNP	NULL	p.E65Q	ENST00000348904.3	37	c.193	CCDS47583.1	7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191263	0.78902	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.69	5.69	0.88448	.	0.183466	0.46145	D	0.000310	T	0.49133	0.1539	M	0.66939	2.045	0.36265	D	0.854808	P	0.45827	0.867	B	0.44044	0.439	T	0.62378	-0.6867	10	0.62326	D	0.03	-28.3446	17.2972	0.87173	0.0:0.0:1.0:0.0	.	65	Q8NEG2	CG057_HUMAN	Q	110;110;65;65	ENSP00000394648:E110Q;ENSP00000410944:E110Q;ENSP00000335500:E65Q;ENSP00000442474:E65Q	ENSP00000335500:E65Q	E	+	1	0	C7orf57	48047593	1.000000	0.71417	0.947000	0.38551	0.622000	0.37654	6.127000	0.71642	2.670000	0.90874	0.563000	0.77884	GAA	C7orf57	-	NULL		0.607	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf57	HGNC	protein_coding	OTTHUMT00000341745.1	G	NM_001100159		48081068	1	no_errors	ENST00000348904	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48081068	G	C	48081068	3	2	179	1	0	0	0	0	1	0	0	0	2409	943	33	1	199	1	C7orf57	7	48081068	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09		48081068	111057595	17	33484										
TNPO3	23534	genome.wustl.edu	37	chr7	128657089	128657089	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ggaaggcatctgtagggcaaGatctgctattgctaaagcca	12	8	2	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr7:128657089G>A	ENST00000265388.5	-	3	486	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	TNPO3_ENST00000471166.1_Missense_Mutation_p.L115F|TNPO3_ENST00000471234.1_Missense_Mutation_p.L115F|TNPO3_ENST00000482320.1_Missense_Mutation_p.L49F|TNPO3_ENST00000393245.1_Missense_Mutation_p.L115F			Q9Y5L0	TNPO3_HUMAN	transportin 3	115					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGTAGGGCAAGATCTGCTATT	0.358																																					Pancreas(147;583 2585 39696 52331)												0													115	112	113					7																	128657089		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.343C>T	7.37:g.128657089G>A	ENSP00000265388:p.Leu115Phe		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.L115F	ENST00000265388.5	37	c.343	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.253509	0.95336	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.81	5.81	0.92471	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.061461	0.64402	D	0.000002	T	0.75148	0.3810	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.974;1.0;1.0	P;D;D	0.97110	0.873;1.0;1.0	T	0.71784	-0.4488	10	0.33940	T	0.23	.	17.572	0.87937	0.0:0.0:1.0:0.0	.	115;115;115	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	F	115;115;49;115;115	ENSP00000376936:L115F;ENSP00000265388:L115F;ENSP00000420089:L49F;ENSP00000418646:L115F;ENSP00000418267:L115F	ENSP00000265388:L115F	L	-	1	0	TNPO3	128444325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.736000	0.98828	2.746000	0.94184	0.655000	0.94253	CTT	TNPO3	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.358	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	G	NM_012470		128657089	-1	no_errors	ENST00000393245	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128657089	G	A	128657089	3	1	179	1	0	0	0	0	1	0	0	0	16367	942	33	1	2508	1	TNPO3	7	128657089	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	80576021	128657089	30481574	18	33485										
SLC37A3	84255	genome.wustl.edu	37	chr7	140051159	140051159	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	atcatcttggattgaataatTcggctcatattcgtcttcat	6	8	5	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr7:140051159T>G	ENST00000326232.9	-	9	999	c.796A>C	c.(796-798)Aat>Cat	p.N266H	SLC37A3_ENST00000447932.2_Missense_Mutation_p.N266H|SLC37A3_ENST00000340308.3_Missense_Mutation_p.N266H|SLC37A3_ENST00000429996.2_3'UTR	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	266					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.N266H(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ATTGAATAATTCGGCTCATAT	0.428																																					Esophageal Squamous(133;211 1716 4665 11387 37873)												2	Substitution - Missense(2)	kidney(2)											172	154	160					7																	140051159		2203	4300	6503	SO:0001583	missense	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.796A>C	7.37:g.140051159T>G	ENSP00000321498:p.Asn266His		Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.N266H	ENST00000326232.9	37	c.796	CCDS5859.1	7	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655275	0.47467	.	.	ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232	T;T;T	0.18960	2.18;2.43;2.43	5.2	2.82	0.32997	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.493107	0.25422	N	0.030781	T	0.28995	0.0720	L	0.55743	1.74	0.80722	D	1	P;D;P	0.57899	0.654;0.981;0.581	B;P;P	0.53062	0.413;0.717;0.549	T	0.01249	-1.1406	10	0.48119	T	0.1	-22.2554	9.2848	0.37751	0.0:0.1493:0.0:0.8507	.	266;266;266	Q8NCC5-2;Q8NCC5-3;Q8NCC5	.;.;SPX3_HUMAN	H	266	ENSP00000343358:N266H;ENSP00000397481:N266H;ENSP00000321498:N266H	ENSP00000321498:N266H	N	-	1	0	SLC37A3	139697628	0.871000	0.30034	0.116000	0.21606	0.691000	0.40173	1.443000	0.35057	0.388000	0.25054	0.460000	0.39030	AAT	SLC37A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.428	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC37A3	HGNC	protein_coding	OTTHUMT00000348492.1	T	NM_032295		140051159	-1	no_errors	ENST00000326232	ensembl	human	known	70_37	missense	SNP	0.872	G	G	140051159	T	G	140051159	3	3	179	1	0	0	0	0	1	0	0	0	14629	1783	62	5	865	5	SLC37A3	7	140051159	Missense_Mutation	SNP	T	TCGA-Q1-A5R1-01A-11D-A28B-09	11394070	140051159	19087504	19	33486										
ELAVL2	1993	genome.wustl.edu	37	chr9	23762091	23762091	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ttcctcctgtgtcatgttctGaggaaggtagttgactatta	10	7	2	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr9:23762091G>A	ENST00000397312.2	-	2	416	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.Q48*|ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.Q77*|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.Q48*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.Q48*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	48	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTCATGTTCTGAGGAAGGTAG	0.423																																																	0													278	252	261					9																	23762091		2203	4300	6503	SO:0001587	stop_gained	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.142C>T	9.37:g.23762091G>A	ENSP00000380479:p.Gln48*		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.Q76*	ENST00000397312.2	37	c.226	CCDS6515.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.620462	0.98393	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	.	.	.	X	48;48;48;48;48;76;48	.	ENSP00000223951:Q48X	Q	-	1	0	ELAVL2	23752091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	CAG	ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF		0.423	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	G	NM_004432		23762091	-1	no_errors	ENST00000359598	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	23762091	G	A	23762091	4	1	179	1	0	0	0	0	0	1	0	0	5062	1299	45	1	961	1	ELAVL2	9	23762091	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09		23762091	117451340	20	33487										
CREB3	57704	genome.wustl.edu	37	chr9	35736237	35736237	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	gctctaggtcctactagtctCcttctgcctcctccttgtac	6	16	3	0			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr9:35736237C>T	ENST00000378103.3	-	0	3611				CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Missense_Mutation_p.S237F|GBA2_ENST00000467252.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTACTAGTCTCCTTCTGCCTC	0.522											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													301	271	281					9																	35736237		2203	4300	6503	SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736237C>T		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S237F	ENST00000378103.3	37	c.710	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161952	0.78226	.	.	ENSG00000107175	ENST00000353704	T	0.70516	-0.49	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85064	0.0936	10	0.59425	D	0.04	.	19.3915	0.94584	0.0:1.0:0.0:0.0	.	261;237	O43889;O43889-2	CREB3_HUMAN;.	F	237	ENSP00000342136:S237F	ENSP00000342136:S237F	S	+	2	0	CREB3	35726237	1.000000	0.71417	0.998000	0.56505	0.792000	0.44763	5.507000	0.66999	2.702000	0.92279	0.655000	0.94253	TCC	CREB3	-	NULL		0.522	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CREB3	HGNC	protein_coding	OTTHUMT00000055456.1	C	NM_020944		35736237	1	no_errors	ENST00000353704	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35736237	C	T	35736237	1	4	179	0	1	0	0	0	0	0	0	0	3860	855	30	1		1	CREB3	9	35736237	IGR	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	11974146	35736237	105477194	21	33488										
SLC44A1	23446	genome.wustl.edu	37	chr9	108147760	108147760	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ctggtaagggaggcgtcgctGattccagagagctaaagccg	15	9	0	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr9:108147760G>C	ENST00000374720.3	+	15	2174	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H	SLC44A1_ENST00000374724.1_Missense_Mutation_p.D643H|SLC44A1_ENST00000374723.1_Missense_Mutation_p.D643H|SLC44A1_ENST00000343170.7_Missense_Mutation_p.D435H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	643					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGCGTCGCTGATTCCAGAGA	0.468																																																	0													54	51	52					9																	108147760		2198	4296	6494	SO:0001583	missense	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1927G>C	9.37:g.108147760G>C	ENSP00000363852:p.Asp643His		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.D643H	ENST00000374720.3	37	c.1927	CCDS6763.1	9	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469096	0.63625	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.18810	3.04;3.07;3.04;2.19	5.71	5.71	0.89125	.	0.407952	0.30771	N	0.008917	T	0.19805	0.0476	N	0.22421	0.69	0.39468	D	0.967686	B;B;P	0.37864	0.098;0.161;0.61	B;B;B	0.38106	0.056;0.038;0.265	T	0.02852	-1.1102	10	0.52906	T	0.07	-17.0125	19.8632	0.96793	0.0:0.0:1.0:0.0	.	643;643;643	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	H	643;643;643;435	ENSP00000363855:D643H;ENSP00000363852:D643H;ENSP00000363856:D643H;ENSP00000341856:D435H	ENSP00000341856:D435H	D	+	1	0	SLC44A1	107187581	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.715000	0.84713	2.699000	0.92147	0.655000	0.94253	GAT	SLC44A1	-	NULL		0.468	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	G	NM_080546		108147760	1	no_errors	ENST00000374720	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108147760	G	C	108147760	3	2	179	1	0	0	0	0	1	0	0	0	14665	1290	45	1	1985	1	SLC44A1	9	108147760	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	72411523	108147760	33065671	22	33489										
TSC1	7248	genome.wustl.edu	37	chr9	135801121	135801121	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tattcgttaatcctgtccaaGaggtgctgaaaatgtaaaag	9	6	0	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr9:135801121G>C	ENST00000298552.3	-	5	437	c.216C>G	c.(214-216)ctC>ctG	p.L72L	TSC1_ENST00000403810.1_Silent_p.L72L|TSC1_ENST00000440111.2_Silent_p.L72L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Intron	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	72			L -> P (in TSC1). {ECO:0000269|PubMed:10533069}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCCTGTCCAAGAGGTGCTGAA	0.428			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	0													78	72	74					9																	135801121		2203	4300	6503	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.216C>G	9.37:g.135801121G>C			B7Z897|Q5VVN5	Silent	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.L72	ENST00000298552.3	37	c.216	CCDS6956.1	9																																																																																			TSC1	-	pfam_Hamartin,superfamily_ARM-type_fold		0.428	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	G			135801121	-1	no_errors	ENST00000298552	ensembl	human	known	70_37	silent	SNP	1.000	C	C	135801121	G	C	135801121	2	2	179	1	0	0	0	0	0	0	0	1	16636	929	33	1		1	TSC1	9	135801121	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	27653361	135801121	5412310	23	33490										
BEND7	222389	genome.wustl.edu	37	chr10	13481266	13481266	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tctgatgatgaagtgtagctGagacctgagttatgaggaat	13	4	1	6			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr10:13481266G>A	ENST00000396900.2	-	9	1465	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000341083.3_Missense_Mutation_p.S438L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	489						extracellular vesicular exosome (GO:0070062)		p.S438L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						aagtgtagctgagacctgagt	0.483																																																	1	Substitution - Missense(1)	breast(1)											293	263	273					10																	13481266		2203	4300	6503	SO:0001583	missense	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1466C>T	10.37:g.13481266G>A	ENSP00000380108:p.Ser489Leu		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	pfam_BEN_domain	p.S489L	ENST00000396900.2	37	c.1466		10	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422427	0.43020	.	.	ENSG00000165626	ENST00000396900;ENST00000341083	T;T	0.50813	0.74;0.73	2.62	1.69	0.24217	.	.	.	.	.	T	0.26629	0.0651	N	0.08118	0	0.09310	N	1	P	0.34934	0.476	B	0.35278	0.199	T	0.17561	-1.0365	9	0.87932	D	0	.	7.2934	0.26378	0.0:0.3027:0.6973:0.0	.	438	Q8N7W2-3	.	L	489;438	ENSP00000380108:S489L;ENSP00000345773:S438L	ENSP00000345773:S438L	S	-	2	0	BEND7	13521272	0.009000	0.17119	0.002000	0.10522	0.030000	0.12068	1.262000	0.32992	0.666000	0.31087	0.655000	0.94253	TCA	BEND7	-	NULL		0.483	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		G	NM_152751		13481266	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	missense	SNP	0.002	A	A	13481266	G	A	13481266	3	1	179	1	0	0	0	0	1	0	0	0	1404	1294	45	1	97	1	BEND7	10	13481266	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09		13481266	122053481	24	33491										
TET1	80312	genome.wustl.edu	37	chr10	70333214	70333215	+	Frame_Shift_Ins	INS	-	-	C													0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	aggcctttggtgctatcccaINScatcaatgggaacttcctgg							TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr10:70333214_70333215insC	ENST00000373644.4	+	2	1328_1329	c.1119_1120insC	c.(1120-1122)catfs	p.H374fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	374					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTGCTATCCCACATCAATGGGA	0.51																																																	0																																										SO:0001589	frameshift_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1120dupC	10.37:g.70333215_70333215dupC	ENSP00000362748:p.His374fs		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Frame_Shift_Ins	INS	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.H373fs	ENST00000373644.4	37	c.1119_1120	CCDS7281.1	10																																																																																			TET1	-	NULL		0.51	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	NM_030625		70333215	1	no_errors	ENST00000373644	ensembl	human	known	70_37	frame_shift_ins	INS	0.725:0.713	C	C	70333215	-	C	70333214	7	5	179	1	0	1	1	0	0	0	0	0	15799	146	6	0	1121	0	TET1	10	70333214	Frame_Shift_Ins	INS	-	TCGA-Q1-A5R1-01A-11D-A28B-09	56851948	70333214	65201533	25	33492										
CCAR1	55749	genome.wustl.edu	37	chr10	70546378	70546378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tttattttgatcaaagtcatTgtggttaccttcttgaaaag	7	5	3	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr10:70546378T>C	ENST00000265872.6	+	21	2928	c.2809T>C	c.(2809-2811)Tgt>Cgt	p.C937R	CCAR1_ENST00000535016.1_Missense_Mutation_p.C922R|CCAR1_ENST00000543719.1_Missense_Mutation_p.C922R	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	937					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TCAAAGTCATTGTGGTTACCT	0.318																																																	0													91	91	91					10																	70546378		2203	4300	6503	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2809T>C	10.37:g.70546378T>C	ENSP00000265872:p.Cys937Arg		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.C937R	ENST00000265872.6	37	c.2809	CCDS7282.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.263348|4.263348	0.80358|0.80358	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539|ENST00000543706	T;T;T;T|.	0.00357|.	7.89;7.89;7.89;7.89|.	5.47|5.47	5.47|5.47	0.80525|0.80525	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76033|0.76033	0.3931|0.3931	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.75484|.	0.986|.	T|T	0.77208|0.77208	-0.2672|-0.2672	10|5	0.56958|.	D|.	0.05|.	-10.4421|-10.4421	15.8482|15.8482	0.78907|0.78907	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	937|.	Q8IX12|.	CCAR1_HUMAN|.	R|S	937;922;922;922|226	ENSP00000265872:C937R;ENSP00000441820:C922R;ENSP00000445254:C922R;ENSP00000439252:C922R|.	ENSP00000265872:C937R|.	C|L	+|+	1|2	0|0	CCAR1|CCAR1	70216384|70216384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.624000|7.624000	0.83124|0.83124	2.190000|2.190000	0.69967|0.69967	0.533000|0.533000	0.62120|0.62120	TGT|TTG	CCAR1	-	NULL		0.318	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	T	NM_018237		70546378	1	no_errors	ENST00000265872	ensembl	human	known	70_37	missense	SNP	1.000	C	C	70546378	T	C	70546378	3	2	179	1	0	0	0	0	1	0	0	0	2735	1812	63	5	2887	5	CCAR1	10	70546378	Missense_Mutation	SNP	T	TCGA-Q1-A5R1-01A-11D-A28B-09	213164	70546378	64988369	26	33493										
ZNF214	7761	genome.wustl.edu	37	chr11	7022682	7022682	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cccatagttctgattctcatAcatctgggcgccagcattcc	7	14	3	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr11:7022682A>C	ENST00000278314.4	-	3	547	c.232T>G	c.(232-234)Tat>Gat	p.Y78D	ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Missense_Mutation_p.Y78D	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGATTCTCATACATCTGGGCG	0.433																																					Ovarian(22;251 657 736 21522 46864)												0													234	231	232					11																	7022682		2201	4295	6496	SO:0001583	missense	7761			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.232T>G	11.37:g.7022682A>C	ENSP00000278314:p.Tyr78Asp		B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y78D	ENST00000278314.4	37	c.232	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	A	6.287	0.421141	0.11928	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.05447	3.44;3.44	4.14	1.75	0.24633	Krueppel-associated box (1);	1.557580	0.03999	N	0.296218	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.40664	-0.9551	10	0.36615	T	0.2	.	1.3749	0.02218	0.5359:0.1851:0.1004:0.1786	.	78	Q9UL59	ZN214_HUMAN	D	78	ENSP00000278314:Y78D;ENSP00000445373:Y78D	ENSP00000278314:Y78D	Y	-	1	0	ZNF214	6979258	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.071000	0.14594	0.244000	0.21351	-0.333000	0.08304	TAT	ZNF214	-	pfscan_Krueppel-associated_box		0.433	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	A			7022682	-1	no_errors	ENST00000278314	ensembl	human	known	70_37	missense	SNP	0.000	C	C	7022682	A	C	7022682	3	2	179	1	0	0	0	0	1	0	0	0	17800	391	14	5	1592	5	ZNF214	11	7022682	Missense_Mutation	SNP	A	TCGA-Q1-A5R1-01A-11D-A28B-09		7022682	127983834	27	33494										
INCENP	3619	genome.wustl.edu	37	chr11	61906405	61906405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cgtggccccacaatgacacgGagattgccaacagcacaccc	9	16	0	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr11:61906405G>A	ENST00000394818.3	+	7	1421	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	INCENP_ENST00000278849.4_Missense_Mutation_p.E407K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	407					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAATGACACGGAGATTGCCAA	0.582																																																	0													134	121	125					11																	61906405		2202	4299	6501	SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1219G>A	11.37:g.61906405G>A	ENSP00000378295:p.Glu407Lys		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.E407K	ENST00000394818.3	37	c.1219	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	G	3.108	-0.183271	0.06340	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.12879	2.64;2.64	5.17	-0.0393	0.13876	.	0.558795	0.17233	N	0.181862	T	0.02304	0.0071	N	0.00347	-1.61	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.45190	-0.9278	10	0.02654	T	1	.	7.4324	0.27134	0.6197:0.0:0.3803:0.0	.	407;407;407	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	K	407	ENSP00000378295:E407K;ENSP00000278849:E407K	ENSP00000278849:E407K	E	+	1	0	INCENP	61662981	0.474000	0.25886	0.076000	0.20297	0.019000	0.09904	0.742000	0.26216	0.063000	0.16370	-0.290000	0.09829	GAG	INCENP	-	NULL		0.582	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	G	NM_020238		61906405	1	no_errors	ENST00000394818	ensembl	human	known	70_37	missense	SNP	0.044	A	A	61906405	G	A	61906405	3	1	179	1	0	0	0	0	1	0	0	0	7753	1175	41	1	1241	1	INCENP	11	61906405	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	54883723	61906405	73100111	28	33495										
HNRNPUL2	221092	genome.wustl.edu	37	chr11	62489768	62489768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tagaagggcccggtctgccaGggaatccttgctgatccaga	13	11	1	3	rs557571395		TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr11:62489768G>A	ENST00000301785.5	-	7	1372	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.L394L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGGTCTGCCAGGGAATCCTTG	0.473																																																	0													95	99	98					11																	62489768		1894	4112	6006	SO:0001819	synonymous_variant	221092				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1180C>T	11.37:g.62489768G>A			Q8N3B3	Silent	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.L394	ENST00000301785.5	37	c.1180	CCDS41659.1	11																																																																																			HNRNPUL2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.473	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL2	HGNC	protein_coding	OTTHUMT00000396208.2	G	XM_495877		62489768	-1	no_errors	ENST00000301785	ensembl	human	known	70_37	silent	SNP	0.957	A	A	62489768	G	A	62489768	2	1	179	1	0	0	0	0	0	0	0	1	7295	991	35	4		4	HNRNPUL2	11	62489768	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	583363	62489768	72516748	29	33496										
BATF2	116071	genome.wustl.edu	37	chr11	64764365	64764365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cactgtctgggtcagcagccCattgcccccacagaggtgca	11	15	2	1	rs564496581		TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr11:64764365C>T	ENST00000301887.4	-	1	152	c.22G>A	c.(22-24)Ggg>Agg	p.G8R		NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	8					defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GTCAGCAGCCCATTGCCCCCA	0.637																																																	0													77	66	70					11																	64764365		2201	4297	6498	SO:0001583	missense	116071			AK092453	CCDS8087.1, CCDS73317.1	11q13.1	2013-01-10			ENSG00000168062	ENSG00000168062		"basic leucine zipper proteins"	25163	protein-coding gene	gene with protein product		614983					Standard	NM_138456		Approved	MGC20410	uc001ocf.1	Q8N1L9	OTTHUMG00000165633	ENST00000301887.4:c.22G>A	11.37:g.64764365C>T	ENSP00000301887:p.Gly8Arg		D9IC56|Q8NAF4|Q8NAL8|Q96EH4	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.G8R	ENST00000301887.4	37	c.22	CCDS8087.1	11	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679210	0.29783	.	.	ENSG00000168062	ENST00000301887;ENST00000534177	T;T	0.47528	0.87;0.84	4.32	3.4	0.38934	.	2.170440	0.02348	N	0.075636	T	0.33265	0.0857	N	0.14661	0.345	0.25643	N	0.986177	P	0.38195	0.622	B	0.33750	0.169	T	0.32955	-0.9887	10	0.44086	T	0.13	2.3358	8.4098	0.32636	0.0:0.8877:0.0:0.1123	.	8	Q8N1L9	BATF2_HUMAN	R	8	ENSP00000301887:G8R;ENSP00000435640:G8R	ENSP00000301887:G8R	G	-	1	0	BATF2	64520941	0.001000	0.12720	0.001000	0.08648	0.047000	0.14425	1.346000	0.33964	0.929000	0.37192	0.467000	0.42956	GGG	BATF2	-	superfamily_Euk_TF_DNA-bd		0.637	BATF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF2	HGNC	protein_coding	OTTHUMT00000385478.2	C	NM_138456		64764365	-1	no_errors	ENST00000301887	ensembl	human	known	70_37	missense	SNP	0.005	T	T	64764365	C	T	64764365	3	4	179	1	0	0	0	0	1	0	0	0	1327	594	21	4	814	4	BATF2	11	64764365	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	2274597	64764365	70242151	30	33497										
C12orf59	120939	genome.wustl.edu	37	chr12	10339160	10339160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	accgtcattgctttcgatcaCgacagcactctccagagcac	7	15	3	1	rs145013082	byFrequency	TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr12:10339160C>T	ENST00000381923.2	+	5	683	c.279C>T	c.(277-279)caC>caT	p.H93H	TMEM52B_ENST00000298530.3_Silent_p.H73H|TMEM52B_ENST00000536952.1_Silent_p.H93H			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	93						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTTTCGATCACGACAGCACTC	0.522																																																	0								C		0,4406		0,0,2203	97	87	91		219	-6.6	0.9	12	dbSNP_134	91	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	C12orf59	NM_153022.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		73/164	10339160	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	120939			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.279C>T	12.37:g.10339160C>T			Q96NA7	Silent	SNP	NULL	p.H93	ENST00000381923.2	37	c.279		12																																																																																			TMEM52B	-	NULL		0.522	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	HGNC	protein_coding	OTTHUMT00000399645.1	C	NM_153022		10339160	1	no_errors	ENST00000381923	ensembl	human	known	70_37	silent	SNP	0.903	T	T	10339160	C	T	10339160	2	4	179	1	0	0	0	0	0	0	0	1	1706	535	19	2		2	C12orf59	12	10339160	Silent	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09		10339160	123512735	31	33498										
KCNJ8	3764	genome.wustl.edu	37	chr12	21919090	21919090	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ggttggccaggtcagttgctGagatgtcatacaggggactg	16	7	2	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr12:21919090G>A	ENST00000240662.2	-	3	1187	c.842C>T	c.(841-843)tCa>tTa	p.S281L	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	281					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GTCAGTTGCTGAGATGTCATA	0.473																																																	0													78	65	69					12																	21919090		2203	4300	6503	SO:0001583	missense	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.842C>T	12.37:g.21919090G>A	ENSP00000240662:p.Ser281Leu		O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.S281L	ENST00000240662.2	37	c.842	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988594	0.93106	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.91996	-2.95	5.35	5.35	0.76521	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.059055	0.64402	D	0.000001	D	0.95335	0.8486	M	0.75085	2.285	0.80722	D	1	D	0.69078	0.997	P	0.59487	0.858	D	0.95485	0.8564	10	0.87932	D	0	.	19.2644	0.93980	0.0:0.0:1.0:0.0	.	281	Q15842	IRK8_HUMAN	L	281	ENSP00000240662:S281L	ENSP00000240662:S281L	S	-	2	0	KCNJ8	21810357	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	7.685000	0.84117	2.782000	0.95742	0.563000	0.77884	TCA	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1		0.473	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	G	NM_004982		21919090	-1	no_errors	ENST00000240662	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21919090	G	A	21919090	3	1	179	1	0	0	0	0	1	0	0	0	8076	1294	45	1	436	1	KCNJ8	12	21919090	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	11579930	21919090	111932805	32	33499										
HOXC8	3224	genome.wustl.edu	37	chr12	54405015	54405015	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ggactgaccgagagacaagtGaagatctggttccagaaccg	13	9	1	5			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr12:54405015G>A	ENST00000040584.4	+	2	816	c.579G>A	c.(577-579)gtG>gtA	p.V193V	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	193					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						AGAGACAAGTGAAGATCTGGT	0.468																																					GBM(197;701 2226 7002 18822 41696)												0													99	97	98					12																	54405015		2203	4300	6503	SO:0001819	synonymous_variant	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.579G>A	12.37:g.54405015G>A			A8K4J4|O15221|O15362	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.V193	ENST00000040584.4	37	c.579	CCDS8870.1	12																																																																																			HOXC8	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif		0.468	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC8	HGNC	protein_coding	OTTHUMT00000358957.2	G			54405015	1	no_errors	ENST00000040584	ensembl	human	known	70_37	silent	SNP	1.000	A	A	54405015	G	A	54405015	2	1	179	1	0	0	0	0	0	0	0	1	7336	1277	45	1		1	HOXC8	12	54405015	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	32485925	54405015	79446880	33	33500										
DNAJC14	85406	genome.wustl.edu	37	chr12	56221331	56221331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	agcaacgctgcaaggctggaGaatccagccaagagaagagc	13	10	0	3			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr12:56221331G>A	ENST00000357606.3	-	3	1401	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	DNAJC14_ENST00000317287.5_Missense_Mutation_p.S371F|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.S371F			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	371					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAAGGCTGGAGAATCCAGCCA	0.557																																																	0													69	70	70					12																	56221331		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1112C>T	12.37:g.56221331G>A	ENSP00000350223:p.Ser371Phe		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S371F	ENST00000357606.3	37	c.1112	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	G	6.189	0.402994	0.11696	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.36520	1.25;1.25;1.25	5.47	3.54	0.40534	.	0.325140	0.24321	N	0.039546	T	0.22244	0.0536	L	0.27053	0.805	0.33409	D	0.57844	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.002	T	0.21518	-1.0243	9	.	.	.	-3.0085	7.9134	0.29803	0.0883:0.0:0.7536:0.1581	.	371;371	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	F	371;371;81;371	ENSP00000350223:S371F;ENSP00000316240:S371F;ENSP00000317500:S371F	.	S	-	2	0	DNAJC14	54507598	0.950000	0.32346	0.992000	0.48379	0.099000	0.18886	1.368000	0.34216	0.700000	0.31782	0.655000	0.94253	TCT	DNAJC14	-	NULL		0.557	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	G	NM_032364		56221331	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	0.996	A	A	56221331	G	A	56221331	3	1	179	1	0	0	0	0	1	0	0	0	4643	942	33	1	1020	1	DNAJC14	12	56221331	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	1816316	56221331	77630564	34	33501										
IRAK3	11213	genome.wustl.edu	37	chr12	66638954	66638954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tctagataagaaagtgcctcCctgccctcggaatttctctg	8	12	2	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr12:66638954C>T	ENST00000261233.4	+	11	1647	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	IRAK3_ENST00000457197.2_Missense_Mutation_p.P348L	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AAAGTGCCTCCCTGCCCTCGG	0.478																																																	0													81	82	81					12																	66638954		2203	4300	6503	SO:0001583	missense	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1226C>T	12.37:g.66638954C>T	ENSP00000261233:p.Pro409Leu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.P409L	ENST00000261233.4	37	c.1226	CCDS8975.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622768	0.87460	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.35973	1.28;1.28	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.284214	0.35436	N	0.003205	T	0.54078	0.1836	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.75484	0.976;0.986	T	0.44034	-0.9354	9	.	.	.	-15.9593	15.7568	0.78037	0.0:1.0:0.0:0.0	.	348;409	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	L	409;348	ENSP00000261233:P409L;ENSP00000409852:P348L	.	P	+	2	0	IRAK3	64925221	0.008000	0.16893	0.998000	0.56505	0.875000	0.50365	1.559000	0.36320	2.793000	0.96121	0.561000	0.74099	CCC	IRAK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.478	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	C			66638954	1	no_errors	ENST00000261233	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66638954	C	T	66638954	3	4	179	1	0	0	0	0	1	0	0	0	7844	623	22	4	1268	4	IRAK3	12	66638954	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	10417623	66638954	67212941	35	33502										
MIA2	117153	genome.wustl.edu	37	chr14	39722048	39722048	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tgatgaaaattcgaaaccatCagtagacaccgaagggcctg	10	9	1	3			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr14:39722048C>T	ENST00000280082.3	+	5	1863	c.1664C>T	c.(1663-1665)tCa>tTa	p.S555L	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCGAAACCATCAGTAGACACC	0.393																																																	0													89	97	94					14																	39722048		2203	4300	6503	SO:0001583	missense	117153			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1664C>T	14.37:g.39722048C>T	ENSP00000280082:p.Ser555Leu		A1L4H0|Q9H6C1	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.S555L	ENST00000280082.3	37	c.1664	CCDS9672.1	14	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883371	0.33255	.	.	ENSG00000150526	ENST00000280082	T	0.47869	0.83	5.29	2.41	0.29592	.	0.974484	0.08311	N	0.965363	T	0.30386	0.0763	.	.	.	0.09310	N	0.999999	B	0.14805	0.011	B	0.11329	0.006	T	0.26467	-1.0102	8	.	.	.	.	6.2025	0.20583	0.0:0.6699:0.1594:0.1707	.	555	Q96PC5-2	.	L	555	ENSP00000280082:S555L	.	S	+	2	0	MIA2	38791799	0.000000	0.05858	0.001000	0.08648	0.743000	0.42351	-0.212000	0.09319	0.299000	0.22661	0.585000	0.79938	TCA	MIA2	-	NULL		0.393	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MIA2	HGNC	protein_coding	OTTHUMT00000276768.3	C	NM_054024		39722048	1	no_errors	ENST00000280082	ensembl	human	novel	70_37	missense	SNP	0.003	T	T	39722048	C	T	39722048	3	4	179	1	0	0	0	0	1	0	0	0	9587	838	29	1	1682	1	MIA2	14	39722048	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09		39722048	67627492	36	33503										
KTN1	3895	genome.wustl.edu	37	chr14	56106701	56106701	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	gtgaacgtgatcgtttaacaAgtaaagaagaggaacttaag	11	4	0	4			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr14:56106701A>T	ENST00000395314.3	+	14	1962	c.1894A>T	c.(1894-1896)Agt>Tgt	p.S632C	KTN1_ENST00000395308.1_Missense_Mutation_p.S632C|KTN1_ENST00000413890.2_Missense_Mutation_p.S632C|KTN1_ENST00000395311.1_Missense_Mutation_p.S632C|KTN1_ENST00000416613.1_Missense_Mutation_p.S632C|KTN1_ENST00000438792.2_Missense_Mutation_p.S632C|KTN1_ENST00000395309.3_Missense_Mutation_p.S632C	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	632					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TCGTTTAACAAGTAAAGAAGA	0.308			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													119	139	132					14																	56106701		2203	4299	6502	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1894A>T	14.37:g.56106701A>T	ENSP00000378725:p.Ser632Cys		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.S632C	ENST00000395314.3	37	c.1894	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323518	0.81580	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.38722	1.12;1.21;1.17;1.21;1.12;1.12;1.21	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000012	T	0.61837	0.2379	L	0.59436	1.845	0.38333	D	0.943848	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.999;0.993;0.999	T	0.66795	-0.5833	10	0.59425	D	0.04	-8.8194	15.9669	0.79979	1.0:0.0:0.0:0.0	.	632;632;632;632	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	C	632	ENSP00000394992:S632C;ENSP00000378720:S632C;ENSP00000391964:S632C;ENSP00000378725:S632C;ENSP00000378719:S632C;ENSP00000378722:S632C;ENSP00000388807:S632C	ENSP00000378719:S632C	S	+	1	0	KTN1	55176454	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.094000	0.64523	2.166000	0.68216	0.402000	0.26972	AGT	KTN1	-	NULL		0.308	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	A			56106701	1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56106701	A	T	56106701	3	4	179	1	0	0	0	0	1	0	0	0	8605	72	3	5	1944	5	KTN1	14	56106701	Missense_Mutation	SNP	A	TCGA-Q1-A5R1-01A-11D-A28B-09	16384653	56106701	51242839	37	33504										
C15orf40	123207	genome.wustl.edu	37	chr15	83680348	83680348	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	aggtgcctcagcccgctgcgGagccgcagcatccccgcctg	13	18	1	0	rs375497525	byFrequency	TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr15:83680348G>A	ENST00000513601.2	-	1	19	c.12C>T	c.(10-12)ctC>ctT	p.L4L	C15orf40_ENST00000538348.2_Silent_p.L4L|C15orf40_ENST00000451195.3_Silent_p.L4L|C15orf40_ENST00000565712.1_Silent_p.L4L|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000304177.5_5'UTR			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	4										large_intestine(3)|lung(2)|skin(1)	6						GCCCGCTGCGGAGCCGCAGCA	0.706											OREG0023391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	18	17					15																	83680348		690	1590	2280	SO:0001819	synonymous_variant	123207			BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.12C>T	15.37:g.83680348G>A		1223	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Silent	SNP	pfam_DUF167,superfamily_DUF167	p.L4	ENST00000513601.2	37	c.12	CCDS32312.2	15																																																																																			C15orf40	-	NULL		0.706	C15orf40-001	KNOWN	basic|CCDS	protein_coding	C15orf40	HGNC	protein_coding	OTTHUMT00000360737.2	G	NM_144597		83680348	-1	no_errors	ENST00000451195	ensembl	human	known	70_37	silent	SNP	0.000	A	A	83680348	G	A	83680348	2	1	179	1	0	0	0	0	0	0	0	1	1798	1161	41	1		1	C15orf40	15	83680348	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09		83680348	18851044	38	33505										
BTBD12	84464	genome.wustl.edu	37	chr16	3632683	3632683	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	caaatgccgctccaaactcaCaggaggaagaactgaaaaga	9	10	1	3			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr16:3632683C>G	ENST00000294008.3	-	15	5805	c.5165G>C	c.(5164-5166)tGt>tCt	p.C1722S	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1722	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCAAACTCACAGGAGGAAGA	0.592								Direct reversal of damage																																									0													32	31	32					16																	3632683		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5165G>C	16.37:g.3632683C>G	ENSP00000294008:p.Cys1722Ser		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.C1722S	ENST00000294008.3	37	c.5165	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.022366	0.00414	.	.	ENSG00000188827	ENST00000294008	T	0.00958	5.5	5.04	1.85	0.25348	.	1.649760	0.03139	N	0.166361	T	0.00637	0.0021	N	0.05230	-0.09	0.09310	N	1	B	0.18013	0.025	B	0.12156	0.007	T	0.44667	-0.9313	10	0.06757	T	0.87	.	5.0801	0.14651	0.0:0.427:0.3268:0.2463	.	1722	Q8IY92	SLX4_HUMAN	S	1722	ENSP00000294008:C1722S	ENSP00000294008:C1722S	C	-	2	0	SLX4	3572684	0.000000	0.05858	0.165000	0.22776	0.667000	0.39255	0.336000	0.19823	0.127000	0.18452	0.462000	0.41574	TGT	SLX4	-	NULL		0.592	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	C	NM_032444		3632683	-1	no_errors	ENST00000294008	ensembl	human	known	70_37	missense	SNP	0.005	G	G	3632683	C	G	3632683	3	3	179	1	0	0	0	0	1	0	0	0	1543	478	17	4	343	4	BTBD12	16	3632683	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09		3632683	86722070	39	33506										
LPCAT2	54947	genome.wustl.edu	37	chr16	55562473	55562473	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ggttaccttctatggtatctCgaaatgagaatgcacaagtc	9	8	2	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr16:55562473C>T	ENST00000262134.5	+	3	680	c.496C>T	c.(496-498)Cga>Tga	p.R166*		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	166					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TATGGTATCTCGAAATGAGAA	0.378																																																	0													173	157	163					16																	55562473		2198	4300	6498	SO:0001587	stop_gained	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.496C>T	16.37:g.55562473C>T	ENSP00000262134:p.Arg166*		A3KBM1|Q6MZJ6|Q9NX23	Nonsense_Mutation	SNP	pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.R166*	ENST00000262134.5	37	c.496	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656979	0.67586	.	.	ENSG00000087253	ENST00000262134	.	.	.	5.8	3.67	0.42095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-6.0514	10.1177	0.42601	0.2573:0.6424:0.1004:0.0	.	.	.	.	X	166	.	ENSP00000262134:R166X	R	+	1	2	LPCAT2	54119974	0.958000	0.32768	0.217000	0.23759	0.238000	0.25445	2.078000	0.41567	1.464000	0.47987	-0.234000	0.12200	CGA	LPCAT2	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.378	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	C	NM_017839		55562473	1	no_errors	ENST00000262134	ensembl	human	known	70_37	nonsense	SNP	0.625	T	T	55562473	C	T	55562473	4	4	179	1	0	0	0	0	0	1	0	0	8934	876	31	1	506	1	LPCAT2	16	55562473	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	51929790	55562473	34792280	40	33507										
CTCF	10664	genome.wustl.edu	37	chr16	67645908	67645908	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ttacacgtgtccacggcgttCaaatttggatcgtcacatga	9	10	2	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr16:67645908C>T	ENST00000264010.4	+	4	1280	c.836C>T	c.(835-837)tCa>tTa	p.S279L	CTCF_ENST00000401394.1_Intron|AC009095.4_ENST00000388909.4_RNA	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	279					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CCACGGCGTTCAAATTTGGAT	0.458																																					Colon(175;1200 1966 6945 23069 27405)												0													147	121	130					16																	67645908		2198	4300	6498	SO:0001583	missense	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.836C>T	16.37:g.67645908C>T	ENSP00000264010:p.Ser279Leu		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S279L	ENST00000264010.4	37	c.836	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.141192	0.94560	.	.	ENSG00000102974	ENST00000264010	T	0.30981	1.51	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000030	T	0.42268	0.1195	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.43893	-0.9363	10	0.87932	D	0	.	18.8894	0.92392	0.0:1.0:0.0:0.0	.	279	P49711	CTCF_HUMAN	L	279	ENSP00000264010:S279L	ENSP00000264010:S279L	S	+	2	0	CTCF	66203409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	TCA	CTCF	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	C	NM_006565		67645908	1	no_errors	ENST00000264010	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67645908	C	T	67645908	3	4	179	1	0	0	0	0	1	0	0	0	4005	838	29	1	842	1	CTCF	16	67645908	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	12083435	67645908	22708845	41	33508										
FANCA	2175	genome.wustl.edu	37	chr16	89849269	89849269	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	gggctcaagcaacattacctCagtaatgtccccagctgatg	9	12	2	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr16:89849269C>A	ENST00000389301.3	-	17	1654	c.1624G>T	c.(1624-1626)Gag>Tag	p.E542*	FANCA_ENST00000568369.1_Nonsense_Mutation_p.E542*	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	542					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AACATTACCTCAGTAATGTCC	0.463			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													65	61	62					16																	89849269		2198	4300	6498	SO:0001587	stop_gained	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1624G>T	16.37:g.89849269C>A	ENSP00000373952:p.Glu542*		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Nonsense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.E542*	ENST00000389301.3	37	c.1624	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997403	0.74818	.	.	ENSG00000187741	ENST00000389301	.	.	.	5.45	1.21	0.21127	.	0.506604	0.19707	N	0.107912	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-15.8608	8.2712	0.31844	0.0:0.3027:0.5379:0.1593	.	.	.	.	X	542	.	ENSP00000373952:E542X	E	-	1	0	FANCA	88376770	0.731000	0.28111	0.316000	0.25252	0.073000	0.16967	0.865000	0.27940	0.260000	0.21731	0.555000	0.69702	GAG	FANCA	-	NULL		0.463	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	C			89849269	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	nonsense	SNP	0.306	A	A	89849269	C	A	89849269	4	1	179	1	0	0	0	0	0	1	0	0	5680	835	29	3	2851	3	FANCA	16	89849269	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	22203361	89849269	505484	42	33509										
GSG2	83903	genome.wustl.edu	37	chr17	3629351	3629351	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tctgtgacgtttccatggatGaggacctgtttaccggtgac	12	9	1	3			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr17:3629351G>C	ENST00000325418.4	+	1	2141	c.2122G>C	c.(2122-2124)Gag>Cag	p.E708Q	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										TTCCATGGATGAGGACCTGTT	0.493																																																	0													118	104	109					17																	3629351		2203	4300	6503	SO:0001583	missense	83903			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.2122G>C	17.37:g.3629351G>C	ENSP00000325290:p.Glu708Gln		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E708Q	ENST00000325418.4	37	c.2122	CCDS11036.1	17	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472967	0.43942	.	.	ENSG00000177602	ENST00000325418	T	0.07567	3.18	5.41	3.29	0.37713	Protein kinase-like domain (1);Domain of unknown function DUF3635 (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.28001	0.0690	M	0.81497	2.545	0.24654	N	0.993502	D	0.56287	0.975	P	0.62089	0.898	T	0.08493	-1.0719	10	0.87932	D	0	-40.3389	15.5526	0.76164	0.0:0.3486:0.6513:0.0	.	708	Q8TF76	HASP_HUMAN	Q	708	ENSP00000325290:E708Q	ENSP00000325290:E708Q	E	+	1	0	GSG2	3576100	1.000000	0.71417	0.933000	0.37362	0.655000	0.38815	3.099000	0.50267	1.415000	0.47037	0.655000	0.94253	GAG	GSG2	-	pfam_DUF3635,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.493	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG2	HGNC	protein_coding	OTTHUMT00000207391.1	G	NM_031965		3629351	1	no_errors	ENST00000325418	ensembl	human	known	70_37	missense	SNP	0.305	C	C	3629351	G	C	3629351	3	2	179	1	0	0	0	0	1	0	0	0	6842	1291	45	1	2124	1	GSG2	17	3629351	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09		3629351	77565859	43	33510										
FGF11	2256	genome.wustl.edu	37	chr17	7344828	7344828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tcgtcaccaaactgttctgcCgccagggtttctacctccag	8	15	3	0	rs201458275		TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr17:7344828C>T	ENST00000293829.4	+	2	826	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575082.1_5'UTR|FGF11_ENST00000572907.1_5'UTR|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575398.1_5'UTR|FGF11_ENST00000575235.1_5'UTR	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	78					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				ACTGTTCTGCCGCCAGGGTTT	0.547																																																	0													69	69	69					17																	7344828		2203	4300	6503	SO:0001583	missense	2256				CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 3"	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.232C>T	17.37:g.7344828C>T	ENSP00000293829:p.Arg78Cys		Q2YDX8	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.R78C	ENST00000293829.4	37	c.232	CCDS11105.1	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952773	0.73787	.	.	ENSG00000161958	ENST00000293829	D	0.83335	-1.71	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.93817	0.7115	10	0.87932	D	0	.	15.7627	0.78101	0.0:1.0:0.0:0.0	.	19;78	B7Z1C3;Q92914	.;FGF11_HUMAN	C	78	ENSP00000293829:R78C	ENSP00000293829:R78C	R	+	1	0	FGF11	7285552	0.930000	0.31532	1.000000	0.80357	1.000000	0.99986	0.037000	0.13840	2.802000	0.96397	0.650000	0.86243	CGC	FGF11	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd		0.547	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF11	HGNC	protein_coding	OTTHUMT00000226939.3	C	NM_004112		7344828	1	no_errors	ENST00000293829	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7344828	C	T	7344828	3	4	179	1	0	0	0	0	1	0	0	0	5858	652	23	2	238	2	FGF11	17	7344828	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	3715477	7344828	73850382	44	33511										
YES1	7525	genome.wustl.edu	37	chr18	742944	742944	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	acataaattcagtgacaatgTaaattggttcttcagaaaca	6	6	3	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr18:742944T>G	ENST00000584307.1	-	8	1204	c.1034A>C	c.(1033-1035)tAc>tCc	p.Y345S	YES1_ENST00000314574.4_Missense_Mutation_p.Y345S|YES1_ENST00000577961.1_Missense_Mutation_p.Y350S			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	AGTGACAATGTAAATTGGTTC	0.308																																																	0													79	81	80					18																	742944		2202	4299	6501	SO:0001583	missense	7525			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1034A>C	18.37:g.742944T>G	ENSP00000462468:p.Tyr345Ser		A6NLB3|D3DUH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.Y345S	ENST00000584307.1	37	c.1034	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362063	0.82353	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.13196	2.61	5.78	5.78	0.91487	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	L	0.31294	0.92	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.01899	-1.1251	10	0.87932	D	0	.	16.1215	0.81361	0.0:0.0:0.0:1.0	.	345	P07947	YES_HUMAN	S	345	ENSP00000324740:Y345S	ENSP00000324740:Y345S	Y	-	2	0	YES1	732944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.102000	0.71486	2.208000	0.71279	0.528000	0.53228	TAC	YES1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.308	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	T	NM_005433		742944	-1	no_errors	ENST00000314574	ensembl	human	known	70_37	missense	SNP	1.000	G	G	742944	T	G	742944	3	3	179	1	0	0	0	0	1	0	0	0	17505	1638	57	5	617	5	YES1	18	742944	Missense_Mutation	SNP	T	TCGA-Q1-A5R1-01A-11D-A28B-09		742944	77334304	45	33512										
DUS3L	56931	genome.wustl.edu	37	chr19	5789395	5789395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ccctcggggacagcggcagcGggtgtggggccctggctgaa	19	12	0	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr19:5789395G>A	ENST00000309061.7	-	3	819	c.723C>T	c.(721-723)ccC>ccT	p.P241P	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	241							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGCGGCAGCGGGTGTGGGGC	0.726																																																	0													6	9	8					19																	5789395		2107	4104	6211	SO:0001819	synonymous_variant	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.723C>T	19.37:g.5789395G>A			Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	NULL	p.P174L	ENST00000309061.7	37	c.521	CCDS32880.1	19																																																																																			DUS3L	-	NULL		0.726	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	G	NM_020175		5789395	-1	no_errors	ENST00000590110	ensembl	human	known	70_37	missense	SNP	0.000	A	A	5789395	G	A	5789395	2	1	179	1	0	0	0	0	0	0	0	1	4817	1103	39	2		2	DUS3L	19	5789395	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09		5789395	53339588	46	33513										
ZNF490	57474	genome.wustl.edu	37	chr19	12721468	12721468	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tcgaggggtcgctccatctgGaaactgagactggaattcct	12	10	1	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr19:12721468G>A	ENST00000311437.6	-	1	149	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ZNF791_ENST00000343325.4_5'Flank|ZNF791_ENST00000458122.3_5'Flank|ZNF791_ENST00000446165.1_5'Flank|ZNF791_ENST00000540038.1_5'Flank|ZNF490_ENST00000465656.1_Intron	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GCTCCATCTGGAAACTGAGAC	0.577																																																	0													139	110	119					19																	12721468		2203	4300	6503	SO:0001819	synonymous_variant	57474			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.27C>T	19.37:g.12721468G>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F9	ENST00000311437.6	37	c.27	CCDS12272.1	19																																																																																			ZNF490	-	NULL		0.577	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF490	HGNC	protein_coding	OTTHUMT00000344073.1	G	NM_020714		12721468	-1	no_errors	ENST00000311437	ensembl	human	known	70_37	silent	SNP	0.155	A	A	12721468	G	A	12721468	2	1	179	1	0	0	0	0	0	0	0	1	17971	1165	41	1		1	ZNF490	19	12721468	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	6932073	12721468	46407515	47	33514										
PDE4C	5143	genome.wustl.edu	37	chr19	18331127	18331127	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tcccggttcaggatccgcttGaactggggcggagagaaggt	16	9	1	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr19:18331127G>A	ENST00000355502.3	-	11	1582	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PDE4C_ENST00000539010.1_Silent_p.F6F|PDE4C_ENST00000447275.3_Silent_p.F131F|PDE4C_ENST00000597297.1_Silent_p.F7F|PDE4C_ENST00000594617.3_Silent_p.F237F|PDE4C_ENST00000262805.12_Silent_p.F205F|PDE4C_ENST00000594465.3_Silent_p.F237F|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Silent_p.F7F			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	237					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGATCCGCTTGAACTGGGGCG	0.622																																																	0													87	87	87					19																	18331127		2203	4300	6503	SO:0001819	synonymous_variant	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.711C>T	19.37:g.18331127G>A			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.F237	ENST00000355502.3	37	c.711	CCDS12373.1	19																																																																																			PDE4C	-	NULL		0.622	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	G			18331127	-1	no_errors	ENST00000355502	ensembl	human	known	70_37	silent	SNP	1.000	A	A	18331127	G	A	18331127	2	1	179	1	0	0	0	0	0	0	0	1	11665	1281	45	1		1	PDE4C	19	18331127	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	5609659	18331127	40797856	48	33515										
ZNF285	26974	genome.wustl.edu	37	chr19	44891043	44891043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cacacacattgcatttgtatGgtttctcccctgtgtggact	8	11	1	0	rs77661661		TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr19:44891043G>T	ENST00000330997.4	-	4	1428	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.P455Q|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.P462Q	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P455Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCATTTGTATGGTTTCTCCCC	0.448																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1364C>A	19.37:g.44891043G>T	ENSP00000333595:p.Pro455Gln		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P455Q	ENST00000330997.4	37	c.1364	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224441	0.58668	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17213	2.29	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	M	0.75447	2.3	0.30665	N	0.754012	D;B	0.89917	1.0;0.012	D;B	0.83275	0.996;0.04	T	0.45323	-0.9269	9	0.62326	D	0.03	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	479;455	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	478;455	ENSP00000333595:P455Q	ENSP00000333595:P455Q	P	-	2	0	ZNF285	49582883	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	5.120000	0.64685	1.598000	0.50083	0.298000	0.19748	CCA	ZNF285	-	pfscan_Znf_C2H2		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	G	NM_152354		44891043	-1	no_errors	ENST00000330997	ensembl	human	known	70_37	missense	SNP	0.995	T	T	44891043	G	T	44891043	3	4	179	1	0	0	0	0	1	0	0	0	17852	1348	47	4	412	4	ZNF285	19	44891043	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	26559916	44891043	14237940	49	33516										
TSKS	60385	genome.wustl.edu	37	chr19	50243366	50243366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ttcttggcccgcagggcctcGtcttgggccagccgaagggt	15	13	2	0			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr19:50243366G>A	ENST00000246801.3	-	10	1654	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	TSKS_ENST00000358830.3_Silent_p.D324D	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	524					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCAGGGCCTCGTCTTGGGCCA	0.627																																																	0													66	70	68					19																	50243366		2203	4300	6503	SO:0001819	synonymous_variant	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1572C>T	19.37:g.50243366G>A			Q8WXJ0	Silent	SNP	NULL	p.D524	ENST00000246801.3	37	c.1572	CCDS12780.1	19																																																																																			TSKS	-	NULL		0.627	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	G	NM_021733		50243366	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	silent	SNP	1.000	A	A	50243366	G	A	50243366	2	1	179	1	0	0	0	0	0	0	0	1	16657	1136	40	2		2	TSKS	19	50243366	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	5352323	50243366	8885617	50	33517										
PLTP	5360	genome.wustl.edu	37	chr20	44540071	44540071	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	cctgccagcagcgctaggaaGagggccccgaagagggccat	15	13	0	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr20:44540071G>A	ENST00000477313.1	-	1	615	c.21C>T	c.(19-21)ctC>ctT	p.L7L	PLTP_ENST00000372431.3_Silent_p.L7L|PLTP_ENST00000354050.4_Silent_p.L7L|PLTP_ENST00000542937.1_Silent_p.L27L|PLTP_ENST00000420868.2_Silent_p.L7L|PLTP_ENST00000372420.1_5'Flank			P55058	PLTP_HUMAN	phospholipid transfer protein	7					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCGCTAGGAAGAGGGCCCCGA	0.647																																																	0													33	39	37					20																	44540071		2187	4274	6461	SO:0001819	synonymous_variant	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.21C>T	20.37:g.44540071G>A			A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L27	ENST00000477313.1	37	c.81	CCDS13386.1	20																																																																																			PLTP	-	NULL		0.647	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	G	NM_006227		44540071	-1	no_errors	ENST00000542937	ensembl	human	known	70_37	silent	SNP	0.266	A	A	44540071	G	A	44540071	2	1	179	1	0	0	0	0	0	0	0	1	12138	929	33	1		1	PLTP	20	44540071	Silent	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09		44540071	18485449	51	33518										
SRRD	402055	genome.wustl.edu	37	chr22	26887615	26887615	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	aaatcatcaggaacaagagaGaagatccttctgctactgac	8	9	3	4			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr22:26887615G>A	ENST00000215917.7	+	7	1011	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	333					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAACAAGAGAGAAGATCCTTC	0.468																																																	0													55	53	54					22																	26887615		1952	4152	6104	SO:0001583	missense	402055			BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"hepatocellular carcinoma complicating hemochromatosis"	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.997G>A	22.37:g.26887615G>A	ENSP00000215917:p.Glu333Lys		Q6NXP8	Missense_Mutation	SNP	pfam_SRR1-like	p.E333K	ENST00000215917.7	37	c.997	CCDS42995.1	22	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210355	0.39003	.	.	ENSG00000100104	ENST00000215917	T	0.47177	0.85	4.86	-6.51	0.01878	.	2.882770	0.00990	N	0.003500	T	0.30479	0.0766	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.06770	-1.0808	10	0.27785	T	0.31	5.967	1.569	0.02611	0.3946:0.2345:0.2515:0.1194	.	333;326	Q9UH36;B4DF37	SRR1L_HUMAN;.	K	333	ENSP00000215917:E333K	ENSP00000215917:E333K	E	+	1	0	SRRD	25217615	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.655000	0.24933	-1.258000	0.02471	-0.282000	0.10007	GAA	SRRD	-	NULL		0.468	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRD	HGNC	protein_coding	OTTHUMT00000320423.2	G	NM_001013694		26887615	1	no_errors	ENST00000215917	ensembl	human	known	70_37	missense	SNP	0.000	A	A	26887615	G	A	26887615	3	1	179	1	0	0	0	0	1	0	0	0	15197	943	33	1	1023	1	SRRD	22	26887615	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09		26887615	24416951	52	33519										
RASD2	23551	genome.wustl.edu	37	chr22	35947704	35947704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	gtcatctgtggcaacaagaaCgaccacggcgagctgtgccg	13	12	2	1			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chr22:35947704C>T	ENST00000216127.4	+	3	1068	c.426C>T	c.(424-426)aaC>aaT	p.N142N		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	142					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GCAACAAGAACGACCACGGCG	0.622																																																	0													65	57	59					22																	35947704		2203	4300	6503	SO:0001819	synonymous_variant	23551			AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"tumor endothelial marker 2", "Ras homolog enriched in striatum"	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.426C>T	22.37:g.35947704C>T			O95520|Q5THY8	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.N142	ENST00000216127.4	37	c.426	CCDS13916.1	22																																																																																			RASD2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.622	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASD2	HGNC	protein_coding	OTTHUMT00000319063.1	C	NM_014310		35947704	1	no_errors	ENST00000216127	ensembl	human	known	70_37	silent	SNP	0.809	T	T	35947704	C	T	35947704	2	4	179	1	0	0	0	0	0	0	0	1	13097	535	19	2		2	RASD2	22	35947704	Silent	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	9060089	35947704	15356862	53	33520										
PHKA2	5256	genome.wustl.edu	37	chrX	18944619	18944619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	ccggcccggctggacttgaaTtggatgaatgtccgcgatac	13	11	0	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chrX:18944619T>C	ENST00000379942.4	-	14	2076	c.1411A>G	c.(1411-1413)Att>Gtt	p.I471V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	471					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGGACTTGAATTGGATGAATG	0.473																																																	0													160	134	143					X																	18944619		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1411A>G	X.37:g.18944619T>C	ENSP00000369274:p.Ile471Val		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.I471V	ENST00000379942.4	37	c.1411	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089486	0.36855	.	.	ENSG00000044446	ENST00000379942	D	0.91894	-2.93	5.38	5.38	0.77491	Glycoside hydrolase 15-related (1);	0.089368	0.85682	D	0.000000	D	0.90170	0.6928	L	0.60957	1.885	0.51482	D	0.999927	B	0.31680	0.335	B	0.35607	0.206	D	0.88532	0.3103	10	0.44086	T	0.13	-18.2701	11.1306	0.48345	0.0:0.0:0.152:0.848	.	471	P46019	KPB2_HUMAN	V	471	ENSP00000369274:I471V	ENSP00000369274:I471V	I	-	1	0	PHKA2	18854540	0.996000	0.38824	0.958000	0.39756	0.761000	0.43186	2.468000	0.45102	1.905000	0.55150	0.486000	0.48141	ATT	PHKA2	-	pfam_Glyco_hydro_15		0.473	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	T	NM_000292		18944619	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	0.985	C	C	18944619	T	C	18944619	3	2	179	1	0	0	0	0	1	0	0	0	11868	1493	52	5	2376	5	PHKA2	23	18944619	Missense_Mutation	SNP	T	TCGA-Q1-A5R1-01A-11D-A28B-09		18944619	136325941	54	33521										
FAM155B	27112	genome.wustl.edu	37	chrX	68749616	68749616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	gatcccccaggccgtgtcagCaacaagcccgccctgctgcc	10	19	1	0			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chrX:68749616C>A	ENST00000252338.4	+	3	1278	c.1236C>A	c.(1234-1236)agC>agA	p.S412R		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	413						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GCCGTGTCAGCAACAAGCCCG	0.602																																																	0													153	105	121					X																	68749616		2203	4300	6503	SO:0001583	missense	27112			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.1236C>A	X.37:g.68749616C>A	ENSP00000252338:p.Ser412Arg		B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	NULL	p.S412R	ENST00000252338.4	37	c.1236	CCDS35317.1	X	.	.	.	.	.	.	.	.	.	.	C	0.860	-0.735732	0.03111	.	.	ENSG00000130054	ENST00000252338	T	0.44482	0.92	4.05	1.16	0.20824	.	0.650758	0.15210	N	0.274542	T	0.21921	0.0528	N	0.14661	0.345	0.30256	N	0.793595	B	0.28880	0.226	B	0.31101	0.124	T	0.28138	-1.0053	10	0.15952	T	0.53	-2.6256	7.419	0.27061	0.0:0.6681:0.0:0.3319	.	412	O75949-2	.	R	412	ENSP00000252338:S412R	ENSP00000252338:S412R	S	+	3	2	FAM155B	68666341	0.999000	0.42202	0.866000	0.34008	0.040000	0.13550	0.943000	0.29030	0.244000	0.21351	-0.487000	0.04747	AGC	FAM155B	-	NULL		0.602	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	HGNC	protein_coding	OTTHUMT00000057037.1	C	NM_015686		68749616	1	no_errors	ENST00000252338	ensembl	human	known	70_37	missense	SNP	0.865	A	A	68749616	C	A	68749616	3	1	179	1	0	0	0	0	1	0	0	0	5481	709	25	4	1246	4	FAM155B	23	68749616	Missense_Mutation	SNP	C	TCGA-Q1-A5R1-01A-11D-A28B-09	49804997	68749616	86520944	55	33522										
SLC10A3	8273	genome.wustl.edu	37	chrX	153716978	153716978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.436363636363636	24	1.29945018873701e-08	3.51627906976744	5.6	2.96470588235294	0.0504721826095644	0.150640052711623	17	tgaccctgagcatggggccaGgcgccgtcctgttggcctgg	16	13	0	2			TCGA-Q1-A5R1-01A-11D-A28B-09	TCGA-Q1-A5R1-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	43f1663d-29b7-4653-ac53-0b2a724ed57e	e9ae2a3c-f934-43a6-a00b-ea04105a5926	g.chrX:153716978G>A	ENST00000393587.4	-	3	565	c.302C>T	c.(301-303)cCt>cTt	p.P101L	UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P156L|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P101L|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000263512.4_Missense_Mutation_p.P101L	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	101					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGGGCCAGGCGCCGTCCT	0.592																																																	0													117	98	105					X																	153716978		2203	4300	6503	SO:0001583	missense	8273			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.302C>T	X.37:g.153716978G>A	ENSP00000377212:p.Pro101Leu		Q5HY79|Q9BSL2	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.P101L	ENST00000393587.4	37	c.302	CCDS14755.1	X	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.015434	0.00422	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.07908	3.16;3.15;3.2;3.2	5.23	0.199	0.15175	.	0.879471	0.09611	U	0.778889	T	0.07728	0.0194	L	0.41079	1.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38308	-0.9667	10	0.32370	T	0.25	-1.1876	9.3159	0.37934	0.5856:0.0:0.4144:0.0	.	101;101	Q9BSL2;P09131	.;P3_HUMAN	L	101;156;101;101;101	ENSP00000358663:P101L;ENSP00000377211:P156L;ENSP00000263512:P101L;ENSP00000377212:P101L	ENSP00000263512:P101L	P	-	2	0	SLC10A3	153370172	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.160000	0.16462	0.027000	0.15297	0.529000	0.55759	CCT	SLC10A3	-	NULL		0.592	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	G	NM_019848		153716978	-1	no_errors	ENST00000263512	ensembl	human	known	70_37	missense	SNP	0.000	A	A	153716978	G	A	153716978	3	1	179	1	0	0	0	0	1	0	0	0	14405	1000	35	4	1135	4	SLC10A3	23	153716978	Missense_Mutation	SNP	G	TCGA-Q1-A5R1-01A-11D-A28B-09	84967362	153716978	1553582	56	33523										
TP73	7161	genome.wustl.edu	37	chr1	3638722	3638724	+	In_Frame_Del	DEL	CGT	CGT	-													0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aaagcggagcacgtgaccgaCgtcgtgaaacgctgccccaa					rs142165895	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	CGT	CGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:3638722_3638724delCGT	ENST00000378295.4	+	5	722_724	c.567_569delCGT	c.(565-570)gacgtc>gac	p.V191del	TP73_ENST00000346387.4_In_Frame_Del_p.V191del|TP73_ENST00000378288.4_In_Frame_Del_p.V142del|TP73_ENST00000604074.1_In_Frame_Del_p.V191del|TP73_ENST00000357733.3_In_Frame_Del_p.V191del|TP73_ENST00000378285.1_In_Frame_Del_p.V142del|TP73_ENST00000604479.1_In_Frame_Del_p.V191del|TP73_ENST00000603362.1_In_Frame_Del_p.V191del|TP73_ENST00000378280.1_In_Frame_Del_p.V142del|TP73_ENST00000378290.4_In_Frame_Del_p.V120del|TP73_ENST00000354437.4_In_Frame_Del_p.V191del	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	191	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACGTGACCGACGTCGTGAAACGC	0.645																																																	0																																										SO:0001651	inframe_deletion	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.567_569delCGT	1.37:g.3638725_3638727delCGT	ENSP00000367545:p.Val191del		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.V191in_frame_del	ENST00000378295.4	37	c.567_569	CCDS49.1	1																																																																																			TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.645	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	CGT	NM_005427		3638724	1	no_errors	ENST00000378295	ensembl	human	known	70_37	in_frame_del	DEL	0.994:0.999:0.999	-	-	3638724	CGT	-	3638722	7	5	180	1	0	1	0	1	0	0	0	0	16424	535	19	0	624	0	TP73	1	3638722	In_Frame_Del	DEL	CGT	TCGA-Q1-A5R2-01A-11D-A28B-09		3638722	245611899	1	33524										
ACOT7	11332	genome.wustl.edu	37	chr1	6399596	6399596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gccacctcaccgatgcacatGggagacaggaagtcggtgcg	14	12	1	1	rs11542480		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:6399596G>A	ENST00000377855.2	-	3	491	c.345C>T	c.(343-345)ccC>ccT	p.P115P	ACOT7_ENST00000377842.3_Silent_p.P64P|ACOT7_ENST00000361521.4_Silent_p.P105P|ACOT7_ENST00000377845.3_Silent_p.P85P|ACOT7_ENST00000541130.1_Silent_p.P85P|ACOT7_ENST00000545482.1_5'UTR|ACOT7_ENST00000608083.1_Silent_p.P73P	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	115	Acyl coenzyme A hydrolase 1.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CGATGCACATGGGAGACAGGA	0.622																																					GBM(74;673 1226 4974 11850 13190)												0													68	61	63					1																	6399596		2203	4300	6503	SO:0001819	synonymous_variant	11332			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"Acyl CoA thioesterases"	24157	protein-coding gene	gene with protein product	"brain acyl CoA hydrolase"	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.345C>T	1.37:g.6399596G>A			A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Silent	SNP	pfam_Thioestr_supf	p.P115	ENST00000377855.2	37	c.345	CCDS65.1	1																																																																																			ACOT7	-	pfam_Thioestr_supf		0.622	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOT7	HGNC	protein_coding	OTTHUMT00000003773.1	G	NM_007274		6399596	-1	no_errors	ENST00000377855	ensembl	human	known	70_37	silent	SNP	1.000	A	A	6399596	G	A	6399596	2	1	180	1	0	0	0	0	0	0	0	1	155	1335	47	4		4	ACOT7	1	6399596	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2760874	6399596	242851025	2	33525										
CLSTN1	22883	genome.wustl.edu	37	chr1	9794074	9794074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agctgctcacttcaatgcccTtctgctgcaggcgggccatg	11	14	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:9794074T>C	ENST00000377298.4	-	15	3029	c.2237A>G	c.(2236-2238)aAg>aGg	p.K746R	CLSTN1_ENST00000361311.4_Missense_Mutation_p.K736R|CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000377288.3_Missense_Mutation_p.K727R	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	746					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAATGCCCTTCTGCTGCAG	0.617																																																	0													121	89	100					1																	9794074		2203	4300	6503	SO:0001583	missense	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2237A>G	1.37:g.9794074T>C	ENSP00000366513:p.Lys746Arg		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.K746R	ENST00000377298.4	37	c.2237	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	T	4.214	0.038451	0.08148	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.13	4.0	0.46444	.	0.101008	0.64402	D	0.000006	T	0.12433	0.0302	N	0.11106	0.095	0.35523	D	0.801628	B;B;B	0.15141	0.007;0.012;0.007	B;B;B	0.15484	0.006;0.013;0.006	T	0.22208	-1.0223	10	0.05351	T	0.99	-34.9327	6.9466	0.24522	0.0:0.0764:0.1494:0.7742	.	727;736;746	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	R	746;736;547;727;727	ENSP00000366513:K746R;ENSP00000354997:K736R;ENSP00000401934:K547R;ENSP00000366502:K727R	ENSP00000354997:K736R	K	-	2	0	CLSTN1	9716661	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.878000	0.39608	0.802000	0.34089	0.533000	0.62120	AAG	CLSTN1	-	NULL		0.617	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	T			9794074	-1	no_errors	ENST00000377298	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9794074	T	C	9794074	3	2	180	1	0	0	0	0	1	0	0	0	3566	1609	56	5	728	5	CLSTN1	1	9794074	Missense_Mutation	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	3394478	9794074	239456547	3	33526										
CASZ1	54897	genome.wustl.edu	37	chr1	10713654	10713654	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccagacgacacggcacccagGaggctgggggtgcccacagg	16	14	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:10713654G>A	ENST00000377022.3	-	11	2777	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	CASZ1_ENST00000344008.5_Silent_p.L820L|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	820					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGCACCCAGGAGGCTGGGGG	0.716																																																	0													13	18	16					1																	10713654		2187	4272	6459	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2460C>T	1.37:g.10713654G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L820	ENST00000377022.3	37	c.2460	CCDS41246.1	1																																																																																			CASZ1	-	NULL		0.716	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	G	NM_017766		10713654	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10713654	G	A	10713654	2	1	180	1	0	0	0	0	0	0	0	1	2690	1161	41	1		1	CASZ1	1	10713654	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	919580	10713654	238536967	4	33527										
TNFRSF8	943	genome.wustl.edu	37	chr1	12164498	12164498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtgtctgcgaatgtcgacccGgcatgttctgttccacgtct	11	12	3	0	rs139967437		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:12164498G>A	ENST00000263932.2	+	4	553	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	111					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	ATGTCGACCCGGCATGTTCTG	0.577																																																	0								G	SER/GLY	0,4406		0,0,2203	170	126	141		331	4.9	1	1	dbSNP_134	141	1,8599		0,1,4299	no	missense	TNFRSF8	NM_001243.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	111/596	12164498	1,13005	2203	4300	6503	SO:0001583	missense	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.331G>A	1.37:g.12164498G>A	ENSP00000263932:p.Gly111Ser		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.G111S	ENST00000263932.2	37	c.331	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	.	18.55	3.648983	0.67358	0.0	1.16E-4	ENSG00000120949	ENST00000263932	T	0.34859	1.34	4.92	4.92	0.64577	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.000000	0.64402	D	0.000013	T	0.59891	0.2227	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63350	-0.6657	10	0.87932	D	0	-44.5951	14.3555	0.66735	0.0:0.0:1.0:0.0	.	111	P28908	TNR8_HUMAN	S	111	ENSP00000263932:G111S	ENSP00000263932:G111S	G	+	1	0	TNFRSF8	12087085	1.000000	0.71417	0.960000	0.40013	0.126000	0.20510	4.870000	0.63035	2.665000	0.90641	0.650000	0.86243	GGC	TNFRSF8	-	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	G			12164498	1	no_errors	ENST00000263932	ensembl	human	known	70_37	missense	SNP	0.978	A	A	12164498	G	A	12164498	3	1	180	1	0	0	0	0	1	0	0	0	16329	1116	39	2	345	2	TNFRSF8	1	12164498	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1450844	12164498	237086123	5	33528										
PRAMEF10	343071	genome.wustl.edu	37	chr1	12954896	12954896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tccactgtctgcctcttactCatggcctctggggagcagga	11	13	4	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:12954896C>G	ENST00000235347.4	-	3	466	c.387G>C	c.(385-387)atG>atC	p.M129I		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	129					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCTTACTCATGGCCTCTG	0.522																																																	0													53	57	56					1																	12954896		1913	3864	5777	SO:0001583	missense	343071			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.387G>C	1.37:g.12954896C>G	ENSP00000235347:p.Met129Ile		Q2M1V2	Missense_Mutation	SNP	NULL	p.M129I	ENST00000235347.4	37	c.387	CCDS41255.1	1	.	.	.	.	.	.	.	.	.	.	.	4.751	0.139564	0.09083	.	.	ENSG00000187545	ENST00000235347	T	0.16324	2.35	1.08	-0.0638	0.13775	.	1.612070	0.04072	N	0.308230	T	0.16514	0.0397	L	0.52126	1.63	0.09310	N	1	B	0.23128	0.08	B	0.22753	0.041	T	0.29027	-1.0025	10	0.35671	T	0.21	.	4.7994	0.13289	0.0:0.6015:0.3985:0.0	.	129	O60809	PRA10_HUMAN	I	129	ENSP00000235347:M129I	ENSP00000235347:M129I	M	-	3	0	PRAMEF10	12877483	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.318000	0.08050	-0.011000	0.14247	0.194000	0.17425	ATG	PRAMEF10	-	NULL		0.522	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	C	XM_496342		12954896	-1	no_errors	ENST00000235347	ensembl	human	known	70_37	missense	SNP	0.001	G	G	12954896	C	G	12954896	3	3	180	1	0	0	0	0	1	0	0	0	12453	826	29	1	1045	1	PRAMEF10	1	12954896	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	790398	12954896	236295725	6	33529										
FBXO42	54455	genome.wustl.edu	37	chr1	16577965	16577965	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	actgtccaaagaagagccacCcacagctgccgttcctggag	10	14	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:16577965C>G	ENST00000375592.3	-	10	1570	c.1354G>C	c.(1354-1356)Ggt>Cgt	p.G452R		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	452										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GAAGAGCCACCCACAGCTGCC	0.557																																																	0													25	30	28					1																	16577965		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1354G>C	1.37:g.16577965C>G	ENSP00000364742:p.Gly452Arg		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.G452R	ENST00000375592.3	37	c.1354	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901207	0.33535	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.47177	3.86;0.85;0.85	5.51	3.65	0.41850	.	0.261873	0.33610	N	0.004731	T	0.32496	0.0831	N	0.08118	0	0.44388	D	0.997298	P	0.47841	0.901	P	0.50314	0.637	T	0.04165	-1.0972	10	0.15066	T	0.55	-8.5296	9.7133	0.40258	0.0:0.8381:0.0:0.1619	.	452	Q6P3S6	FBX42_HUMAN	R	452;170;170	ENSP00000364742:G452R;ENSP00000415663:G170R;ENSP00000412416:G170R	ENSP00000364742:G452R	G	-	1	0	FBXO42	16450552	0.802000	0.28943	0.326000	0.25389	0.596000	0.36781	2.417000	0.44653	0.827000	0.34685	-0.145000	0.13849	GGT	FBXO42	-	NULL		0.557	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	C			16577965	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	0.810	G	G	16577965	C	G	16577965	3	3	180	1	0	0	0	0	1	0	0	0	5769	623	22	4	803	4	FBXO42	1	16577965	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3623069	16577965	232672656	7	33530										
C1orf38	9473	genome.wustl.edu	37	chr1	28203154	28203154	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctctccacgggggacctgatCaaggtcacccaggtccgcct	11	16	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:28203154C>T	ENST00000373921.3	+	2	154	c.150C>T	c.(148-150)atC>atT	p.I50I	THEMIS2_ENST00000373927.3_Silent_p.I50I|THEMIS2_ENST00000328928.7_Silent_p.I50I|THEMIS2_ENST00000373925.1_Silent_p.I50I	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	50	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGACCTGATCAAGGTCACCC	0.592																																																	0													90	88	89					1																	28203154		2203	4300	6503	SO:0001819	synonymous_variant	9473			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.150C>T	1.37:g.28203154C>T			A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	NULL	p.I50	ENST00000373921.3	37	c.150	CCDS41290.1	1																																																																																			THEMIS2	-	NULL		0.592	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	C	NM_004848		28203154	1	no_errors	ENST00000373921	ensembl	human	known	70_37	silent	SNP	0.989	T	T	28203154	C	T	28203154	2	4	180	1	0	0	0	0	0	0	0	1	2044	816	29	1		1	C1orf38	1	28203154	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	11625189	28203154	221047467	8	33531										
DCDC2B	149069	genome.wustl.edu	37	chr1	32681106	32681106	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cgggggccctggaagtagcaGatgatgaagacactcagaca	14	9	1	5			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:32681106G>C	ENST00000409358.1	+	8	916	c.916G>C	c.(916-918)Gat>Cat	p.D306H	TMEM234_ENST00000485689.1_5'Flank	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	306					intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGAAGTAGCAGATGATGAAGA	0.557											OREG0013329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													59	64	62					1																	32681106		2105	4259	6364	SO:0001583	missense	149069			BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.916G>C	1.37:g.32681106G>C	ENSP00000386870:p.Asp306His	834	B7ZBC6	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.D306H	ENST00000409358.1	37	c.916	CCDS44100.1	1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893672	0.72639	.	.	ENSG00000222046	ENST00000409358	T	0.36699	1.24	4.81	3.89	0.44902	.	.	.	.	.	T	0.49133	0.1539	L	0.51422	1.61	0.80722	D	1	P	0.52692	0.955	P	0.58077	0.832	T	0.54002	-0.8358	9	0.87932	D	0	.	14.5079	0.67764	0.0:0.1479:0.852:0.0	.	306	A2VCK2	DCD2B_HUMAN	H	306	ENSP00000386870:D306H	ENSP00000386870:D306H	D	+	1	0	DCDC2B	32453693	0.998000	0.40836	0.517000	0.27799	0.942000	0.58702	3.361000	0.52306	1.394000	0.46624	0.655000	0.94253	GAT	DCDC2B	-	NULL		0.557	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2B	HGNC	protein_coding	OTTHUMT00000328293.1	G	XM_940631		32681106	1	no_errors	ENST00000409358	ensembl	human	known	70_37	missense	SNP	0.994	C	C	32681106	G	C	32681106	3	2	180	1	0	0	0	0	1	0	0	0	4291	942	33	1	946	1	DCDC2B	1	32681106	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4477952	32681106	216569515	9	33532										
C1orf122	127687	genome.wustl.edu	37	chr1	38274657	38274657	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgttccaactagaacgtctCagccaaacctggagcgcccc	8	16	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:38274657C>T	ENST00000373042.4	+	3	504	c.245C>T	c.(244-246)tCa>tTa	p.S82L	C1orf122_ENST00000373043.1_Missense_Mutation_p.S19L|YRDC_ENST00000373044.2_5'Flank|C1orf122_ENST00000446260.2_Nonsense_Mutation_p.Q111*|C1orf122_ENST00000468084.1_Missense_Mutation_p.S19L			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122	82										kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				TAGAACGTCTCAGCCAAACCT	0.587																																																	0													57	70	65					1																	38274657		2183	4266	6449	SO:0001583	missense	127687			AK127381	CCDS427.2, CCDS44112.1	1p34.3	2008-02-05		2005-08-09	ENSG00000197982	ENSG00000197982			24789	protein-coding gene	gene with protein product						12477932	Standard	NM_198446		Approved	FLJ45459	uc001ccd.2	Q6ZSJ8	OTTHUMG00000004319	ENST00000373042.4:c.245C>T	1.37:g.38274657C>T	ENSP00000362133:p.Ser82Leu		A2RQF4|E9PQ13|Q56A71	Nonsense_Mutation	SNP	NULL	p.Q111*	ENST00000373042.4	37	c.331	CCDS427.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.21|18.21	3.573860|3.573860	0.65765|0.65765	.|.	.|.	ENSG00000197982|ENSG00000197982	ENST00000446260|ENST00000373043;ENST00000468084;ENST00000373042	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.204220|.	0.24618|.	N|.	0.036998|.	.|T	.|0.36771	.|0.0979	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.37330	.|0.59	.|B	.|0.38156	.|0.266	.|T	.|0.44513	.|-0.9323	.|8	0.87932|0.87932	D|D	0|0	.|.	15.2065|15.2065	0.73183|0.73183	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|82	.|Q6ZSJ8	.|CA122_HUMAN	X|L	111|19;19;82	.|.	ENSP00000389807:Q111X|ENSP00000362133:S82L	Q|S	+|+	1|2	0|0	C1orf122|C1orf122	38047244|38047244	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.371000|1.371000	0.34250|0.34250	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	CAG|TCA	C1orf122	-	NULL		0.587	C1orf122-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf122	HGNC	protein_coding	OTTHUMT00000012471.2	C	NM_198446		38274657	1	no_errors	ENST00000446260	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	38274657	C	T	38274657	3	4	180	1	0	0	0	0	1	0	0	0	1995	838	29	1	255	1	C1orf122	1	38274657	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	5593551	38274657	210975964	10	33533										
GJA9	81025	genome.wustl.edu	37	chr1	39340620	39340620	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaatagaacggtgacctctaGagtagtagttccttttgctg	11	7	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:39340620G>A	ENST00000360786.3	-	1	1403	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	MYCBP_ENST00000489803.1_5'UTR|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Missense_Mutation_p.S384F|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.S384F|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	384					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTGACCTCTAGAGTAGTAGTT	0.403																																																	0													196	185	189					1																	39340620		2203	4300	6503	SO:0001583	missense	81025			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1151C>T	1.37:g.39340620G>A	ENSP00000354020:p.Ser384Phe		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.S384F	ENST00000360786.3	37	c.1151	CCDS432.1	1	.	.	.	.	.	.	.	.	.	.	G	3.510	-0.099954	0.07010	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97870	-4.58;-4.45;-4.45	4.82	0.636	0.17729	.	3.162950	0.01476	N	0.016487	D	0.92899	0.7741	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	D	0.86841	0.2017	10	0.45353	T	0.12	.	6.1501	0.20306	0.2502:0.4288:0.3209:0.0	.	384	P57773	CXA9_HUMAN	F	384	ENSP00000406846:S384F;ENSP00000350415:S384F;ENSP00000354020:S384F	ENSP00000350415:S384F	S	-	2	0	GJA9	39113207	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	0.274000	0.18680	0.019000	0.15079	0.655000	0.94253	TCT	GJA9	-	NULL		0.403	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	G	NM_030772		39340620	-1	no_errors	ENST00000357771	ensembl	human	known	70_37	missense	SNP	0.000	A	A	39340620	G	A	39340620	3	1	180	1	0	0	0	0	1	0	0	0	6425	942	33	1	400	1	GJA9	1	39340620	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1065963	39340620	209910001	11	33534										
SLC2A1	6513	genome.wustl.edu	37	chr1	43395647	43395647	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agcagggccgggatgaagatGatgctcagcagcaggggcca	17	9	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:43395647G>A	ENST00000426263.3	-	5	754	c.576C>T	c.(574-576)atC>atT	p.I192I	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	192					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGATGAAGATGATGCTCAGCA	0.652																																																	0													79	76	77					1																	43395647		2203	4300	6503	SO:0001819	synonymous_variant	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.576C>T	1.37:g.43395647G>A			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.I192	ENST00000426263.3	37	c.576	CCDS477.1	1																																																																																			SLC2A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.652	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	G	NM_006516		43395647	-1	no_errors	ENST00000426263	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43395647	G	A	43395647	2	1	180	1	0	0	0	0	0	0	0	1	14568	1280	45	1		1	SLC2A1	1	43395647	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4055027	43395647	205854974	12	33535										
RPE65	6121	genome.wustl.edu	37	chr1	68903995	68903995	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	taagtaattataaacaaactCaaatctgcaaaaataaaaag	3	5	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:68903995C>G	ENST00000262340.5	-	10	1056	c.1003G>C	c.(1003-1005)Gag>Cag	p.E335Q		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	335					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TAAACAAACTCAAATCTGCAA	0.358																																																	0													42	45	44					1																	68903995		2203	4300	6503	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1003G>C	1.37:g.68903995C>G	ENSP00000262340:p.Glu335Gln		A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.E335Q	ENST00000262340.5	37	c.1003	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403614	0.62288	.	.	ENSG00000116745	ENST00000262340	D	0.95035	-3.59	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	M	0.68952	2.095	0.80722	D	1	P	0.34780	0.468	B	0.40228	0.323	D	0.91128	0.4935	10	0.18276	T	0.48	-2.7948	19.6178	0.95640	0.0:1.0:0.0:0.0	.	335	Q16518	RPE65_HUMAN	Q	335	ENSP00000262340:E335Q	ENSP00000262340:E335Q	E	-	1	0	RPE65	68676583	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.396000	0.79891	2.638000	0.89438	0.591000	0.81541	GAG	RPE65	-	pfam_Carotenoid_Oase		0.358	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	C	NM_000329		68903995	-1	no_errors	ENST00000262340	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68903995	C	G	68903995	3	3	180	1	0	0	0	0	1	0	0	0	13575	835	29	1	618	1	RPE65	1	68903995	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	25508348	68903995	180346626	13	33536										
ASB17	127247	genome.wustl.edu	37	chr1	76384652	76384652	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtatgttagatttctaaattCagatagttttgtagacgagc	9	4	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:76384652C>T	ENST00000284142.6	-	3	1012	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	291	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TTTCTAAATTCAGATAGTTTT	0.328																																																	0													125	127	127					1																	76384652		2203	4300	6503	SO:0001819	synonymous_variant	127247			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.873G>A	1.37:g.76384652C>T			B1APB8|Q8N0X5	Silent	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.L291	ENST00000284142.6	37	c.873	CCDS671.1	1																																																																																			ASB17	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.328	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	C	NM_080868		76384652	-1	no_errors	ENST00000284142	ensembl	human	known	70_37	silent	SNP	1.000	T	T	76384652	C	T	76384652	2	4	180	1	0	0	0	0	0	0	0	1	1022	813	29	1		1	ASB17	1	76384652	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	7480657	76384652	172865969	14	33537										
PIGK	10026	genome.wustl.edu	37	chr1	77627018	77627018	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttggctagctgggttaatttCttccaaaaattccaagacat	7	8	1	1	rs200133111		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:77627018C>T	ENST00000370812.3	-	8	798	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	PIGK_ENST00000370813.5_Missense_Mutation_p.E183K|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Missense_Mutation_p.E259K|PIGK_ENST00000445065.1_Missense_Mutation_p.E165K	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	259					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GGGTTAATTTCTTCCAAAAAT	0.343																																																	0													87	90	89					1																	77627018		2203	4299	6502	SO:0001583	missense	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"Phosphatidylinositol glycan anchor biosynthesis"	8965	protein-coding gene	gene with protein product	"GPI transamidase subunit"	605087	"phosphatidylinositol glycan, class K"			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.775G>A	1.37:g.77627018C>T	ENSP00000359848:p.Glu259Lys		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.E259K	ENST00000370812.3	37	c.775	CCDS674.1	1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369782	0.42003	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.44083	0.94;0.93;0.94;0.95	4.84	4.84	0.62591	.	0.051178	0.85682	D	0.000000	T	0.04363	0.0120	N	0.00219	-1.825	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.001;0.002	B;B;B;B	0.17098	0.017;0.017;0.006;0.012	T	0.45585	-0.9251	10	0.02654	T	1	-12.9004	18.3398	0.90302	0.0:1.0:0.0:0.0	.	183;165;259;259	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	K	259;165;183;259	ENSP00000359848:E259K;ENSP00000388854:E165K;ENSP00000359849:E183K;ENSP00000352041:E259K	ENSP00000352041:E259K	E	-	1	0	PIGK	77399606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.606000	0.54095	2.396000	0.81511	0.563000	0.77884	GAA	PIGK	-	pfam_Peptidase_C13		0.343	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGK	HGNC	protein_coding	OTTHUMT00000026687.1	C	NM_005482		77627018	-1	no_errors	ENST00000370812	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77627018	C	T	77627018	3	4	180	1	0	0	0	0	1	0	0	0	11914	922	32	1	428	1	PIGK	1	77627018	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	1242366	77627018	171623603	15	33538										
CELSR2	1952	genome.wustl.edu	37	chr1	109795251	109795251	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tctggacttaatggcagggtCttctacaccttccaaggagg	11	10	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:109795251C>G	ENST00000271332.3	+	1	2611	c.2550C>G	c.(2548-2550)gtC>gtG	p.V850V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	850	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATGGCAGGGTCTTCTACACCT	0.547																																					NSCLC(158;1285 2011 34800 34852 42084)												0													108	101	103					1																	109795251		2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2550C>G	1.37:g.109795251C>G			Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V850	ENST00000271332.3	37	c.2550	CCDS796.1	1																																																																																			CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	C	NM_001408		109795251	1	no_errors	ENST00000271332	ensembl	human	known	70_37	silent	SNP	0.880	G	G	109795251	C	G	109795251	2	3	180	1	0	0	0	0	0	0	0	1	3227	900	32	1		1	CELSR2	1	109795251	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	32168233	109795251	139455370	16	33539										
ECM1	1893	genome.wustl.edu	37	chr1	150482469	150482469	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tacctgcccaactccctgctGaaaaggaaggtgagcgcttg	11	12	0	2	rs34875812		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:150482469G>A	ENST00000369047.4	+	4	420	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	ECM1_ENST00000369049.4_Missense_Mutation_p.E126K|ECM1_ENST00000346569.6_Missense_Mutation_p.E99K|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	99					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACTCCCTGCTGAAAAGGAAGG	0.597																																					Melanoma(156;1696 2560 11093 19685)												0													100	99	99					1																	150482469		2203	4300	6503	SO:0001583	missense	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.295G>A	1.37:g.150482469G>A	ENSP00000358043:p.Glu99Lys		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.E126K	ENST00000369047.4	37	c.376	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030748	0.19512	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.75367	-0.93;-0.93;-0.93	4.34	1.4	0.22301	.	2.324170	0.01512	N	0.017972	T	0.44685	0.1305	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B	0.17852	0.023;0.019;0.024;0.013;0.002;0.001	B;B;B;B;B;B	0.17433	0.018;0.007;0.007;0.008;0.002;0.008	T	0.08534	-1.0717	10	0.29301	T	0.29	2.6266	4.5239	0.11973	0.2046:0.1837:0.6117:0.0	.	21;28;126;99;99;99	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	K	126;99;99	ENSP00000358045:E126K;ENSP00000358043:E99K;ENSP00000271630:E99K	ENSP00000271630:E99K	E	+	1	0	ECM1	148749093	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	0.242000	0.18087	0.209000	0.20645	-0.391000	0.06502	GAA	ECM1	-	pfam_ECM1		0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	G	NM_004425		150482469	1	no_errors	ENST00000369049	ensembl	human	known	70_37	missense	SNP	0.000	A	A	150482469	G	A	150482469	3	1	180	1	0	0	0	0	1	0	0	0	4907	1291	45	1	309	1	ECM1	1	150482469	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	40687218	150482469	98768152	17	33540										
SCAMP3	10067	genome.wustl.edu	37	chr1	155226555	155226555	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gatactgctgtgttgcccttCggcaccaccagagcagagat	11	12	0	2	rs368184754		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:155226555C>T	ENST00000302631.3	-	8	914	c.807G>A	c.(805-807)ccG>ccA	p.P269P	FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000361361.2_5'Flank|FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000355379.3_Silent_p.P243P|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	269					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGTTGCCCTTCGGCACCACCA	0.562																																																	0								C	,	0,4406		0,0,2203	86	67	73		807,729	0.3	0.1	1		73	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	SCAMP3	NM_005698.3,NM_052837.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	269/348,243/322	155226555	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10067			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"Secretory carrier membrane proteins"	10565	protein-coding gene	gene with protein product	"Propin 1"	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.807G>A	1.37:g.155226555C>T			A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Silent	SNP	pfam_SCAMP	p.P269	ENST00000302631.3	37	c.807	CCDS1105.1	1																																																																																			SCAMP3	-	pfam_SCAMP		0.562	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	C	NM_005698		155226555	-1	no_errors	ENST00000302631	ensembl	human	known	70_37	silent	SNP	0.416	T	T	155226555	C	T	155226555	2	4	180	1	0	0	0	0	0	0	0	1	13902	871	31	1		1	SCAMP3	1	155226555	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	4744086	155226555	94024066	18	33541										
C1orf182	128229	genome.wustl.edu	37	chr1	156309577	156309577	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcacactagtcatcctaacaGaaaaggtgtgtgttggaggc	12	8	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:156309577G>A	ENST00000368255.3	+	2	389	c.29G>A	c.(28-30)aGa>aAa	p.R10K	CCT3_ENST00000472765.2_5'Flank|TSACC_ENST00000368254.1_Missense_Mutation_p.R10K|TSACC_ENST00000466306.1_Missense_Mutation_p.R10K|TSACC_ENST00000368251.1_Missense_Mutation_p.R10K|TSACC_ENST00000470342.1_Missense_Mutation_p.R10K|CCT3_ENST00000295688.3_5'Flank|CCT3_ENST00000368261.3_5'Flank|TSACC_ENST00000368252.1_Missense_Mutation_p.R10K|TSACC_ENST00000368253.2_Missense_Mutation_p.R10K|CCT3_ENST00000368259.2_5'Flank|CCT3_ENST00000368256.3_5'Flank|TSACC_ENST00000481479.1_Missense_Mutation_p.R10K	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	10						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										CATCCTAACAGAAAAGGTGTG	0.473																																																	0													143	123	130					1																	156309577		2203	4300	6503	SO:0001583	missense	128229			AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"SSTK-interacting protein"		"chromosome 1 open reading frame 182"	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.29G>A	1.37:g.156309577G>A	ENSP00000357238:p.Arg10Lys		D3DVB9	Missense_Mutation	SNP	NULL	p.R10K	ENST00000368255.3	37	c.29	CCDS1141.1	1	.	.	.	.	.	.	.	.	.	.	G	4.924	0.171779	0.09391	.	.	ENSG00000163467	ENST00000368255;ENST00000368254;ENST00000368253;ENST00000368252;ENST00000368251	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	3.34	0.374	0.16183	.	1.405150	0.04807	N	0.434648	T	0.03915	0.0110	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24476	-1.0159	10	0.02654	T	1	-0.0012	5.2153	0.15338	0.418:0.0:0.582:0.0	.	10	Q96A04	CA182_HUMAN	K	10	ENSP00000357238:R10K;ENSP00000357237:R10K;ENSP00000357236:R10K;ENSP00000357235:R10K;ENSP00000357234:R10K	ENSP00000357234:R10K	R	+	2	0	C1orf182	154576201	0.001000	0.12720	0.078000	0.20375	0.982000	0.71751	-0.353000	0.07691	0.092000	0.17331	0.467000	0.42956	AGA	TSACC	-	NULL		0.473	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSACC	HGNC	protein_coding	OTTHUMT00000060594.1	G	NM_144627		156309577	1	no_errors	ENST00000368251	ensembl	human	known	70_37	missense	SNP	0.103	A	A	156309577	G	A	156309577	3	1	180	1	0	0	0	0	1	0	0	0	2023	942	33	1	31	1	C1orf182	1	156309577	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1083022	156309577	92941044	19	33542										
C1orf66	51093	genome.wustl.edu	37	chr1	156704179	156704179	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctggccctggccttcgaactCactgctaccgtgcagcactg	10	16	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:156704179C>G	ENST00000368216.4	+	6	1645	c.1015C>G	c.(1015-1017)Cac>Gac	p.H339D	MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	339						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCTTCGAACTCACTGCTACCG	0.652																																																	0													31	27	29					1																	156704179		2203	4299	6502	SO:0001583	missense	51093			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1015C>G	1.37:g.156704179C>G	ENSP00000357199:p.His339Asp		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	NULL	p.H339D	ENST00000368216.4	37	c.1015	CCDS1154.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564025	0.86335	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	T	0.50001	0.76	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.88979	2.995	0.80722	D	1	D	0.69078	0.997	P	0.59487	0.858	T	0.72818	-0.4178	10	0.62326	D	0.03	-22.3123	17.5425	0.87852	0.0:1.0:0.0:0.0	.	339	Q96FB5	RRNAD_HUMAN	D	339;318	ENSP00000357199:H339D	ENSP00000357199:H339D	H	+	1	0	RRNAD1	154970803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.133000	0.77259	2.577000	0.86979	0.561000	0.74099	CAC	RRNAD1	-	NULL		0.652	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRNAD1	HGNC	protein_coding	OTTHUMT00000098973.1	C	NM_015997		156704179	1	no_errors	ENST00000368216	ensembl	human	known	70_37	missense	SNP	1.000	G	G	156704179	C	G	156704179	3	3	180	1	0	0	0	0	1	0	0	0	2061	826	29	1	1037	1	C1orf66	1	156704179	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	394602	156704179	92546442	20	33543										
OR6K6	128371	genome.wustl.edu	37	chr1	158725553	158725553	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccctttttcaaccccatcatCtatagcctgaaaaacaagga	4	13	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:158725553C>T	ENST00000368144.2	+	1	1044	c.948C>T	c.(946-948)atC>atT	p.I316I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACCCCATCATCTATAGCCTGA	0.443																																																	0													132	131	131					1																	158725553		2203	4300	6503	SO:0001819	synonymous_variant	128371			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.948C>T	1.37:g.158725553C>T			B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I316	ENST00000368144.2	37	c.948	CCDS30904.1	1																																																																																			OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.443	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	C	NM_001005184		158725553	1	no_errors	ENST00000368144	ensembl	human	known	70_37	silent	SNP	0.840	T	T	158725553	C	T	158725553	2	4	180	1	0	0	0	0	0	0	0	1	11228	903	32	1		1	OR6K6	1	158725553	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2021374	158725553	90525068	21	33544										
FCRLB	127943	genome.wustl.edu	37	chr1	161697042	161697042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtaatgcattcacaggttctCccctggacccggcctccacc	8	17	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:161697042C>A	ENST00000367948.2	+	8	1086	c.871C>A	c.(871-873)Ccc>Acc	p.P291T	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_Missense_Mutation_p.S249Y|FCRLB_ENST00000367945.1_Silent_p.L235L|FCRLB_ENST00000392158.1_Missense_Mutation_p.P291T|FCRLB_ENST00000336830.5_Missense_Mutation_p.S256Y|FCRLB_ENST00000367946.3_Silent_p.L242L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	291					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CACAGGTTCTCCCCTGGACCC	0.672																																																	0													23	27	25					1																	161697042		2202	4299	6501	SO:0001583	missense	127943			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.871C>A	1.37:g.161697042C>A	ENSP00000356925:p.Pro291Thr		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.P291T	ENST00000367948.2	37	c.871	CCDS30927.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.821|5.821	0.335798|0.335798	0.11013|0.11013	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000367948;ENST00000392158|ENST00000336830;ENST00000367944	D;D|T;T	0.96651|0.02301	-4.08;-4.08|4.35;4.37	3.92|3.92	-2.55|-2.55	0.06288|0.06288	.|.	1.496250|.	0.04521|.	N|.	0.384554|.	T|T	0.00906|0.00906	0.0030|0.0030	M|M	0.64080|0.64080	1.96|1.96	0.09310|0.09310	N|N	1|1	B|P;B;B	0.19817|0.41080	0.039|0.737;0.019;0.019	B|B;B;B	0.10450|0.38500	0.005|0.275;0.016;0.016	T|T	0.42068|0.42068	-0.9473|-0.9473	10|9	0.21540|0.87932	T|D	0.41|0	.|.	1.4774|1.4774	0.02429|0.02429	0.1439:0.2493:0.3801:0.2267|0.1439:0.2493:0.3801:0.2267	.|.	291|293;249;256	Q6BAA4|Q96DP6;Q6BAA4-3;Q6BAA4-2	FCRLB_HUMAN|.;.;.	T|Y	291|256;249	ENSP00000356925:P291T;ENSP00000375999:P291T|ENSP00000338598:S256Y;ENSP00000356921:S249Y	ENSP00000356925:P291T|ENSP00000338598:S256Y	P|S	+|+	1|2	0|0	FCRLB|FCRLB	159963666|159963666	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.181000|0.181000	0.23173|0.23173	-0.382000|-0.382000	0.07408|0.07408	-0.349000|-0.349000	0.08274|0.08274	0.455000|0.455000	0.32223|0.32223	CCC|TCC	FCRLB	-	NULL		0.672	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRLB	HGNC	protein_coding	OTTHUMT00000083585.1	C	NM_152378		161697042	1	no_errors	ENST00000367948	ensembl	human	known	70_37	missense	SNP	0.000	A	A	161697042	C	A	161697042	3	1	180	1	0	0	0	0	1	0	0	0	5819	855	30	3	893	3	FCRLB	1	161697042	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2971489	161697042	87553579	22	33545										
ALDH9A1	223	genome.wustl.edu	37	chr1	165651451	165651451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctcttctggtataaccaaacGatccacctgggagctggatg	10	11	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:165651451G>A	ENST00000354775.4	-	4	789	c.485C>T	c.(484-486)tCg>tTg	p.S162L	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.S68L|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	138					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ATAACCAAACGATCCACCTGG	0.498																																					Ovarian(179;1583 2014 18106 33801 42447)												0													94	89	91					1																	165651451		2203	4300	6503	SO:0001583	missense	223			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.485C>T	1.37:g.165651451G>A	ENSP00000346827:p.Ser162Leu		B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.S162L	ENST00000354775.4	37	c.485	CCDS1250.2	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363275	0.82353	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	T;T	0.76448	-1.02;-1.02	5.75	5.75	0.90469	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.236766	0.44285	D	0.000470	T	0.77942	0.4206	L	0.33293	1	0.44485	D	0.997420	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.988;0.988;0.996;0.988	T	0.74006	-0.3803	9	0.24483	T	0.36	.	17.46	0.87618	0.0:0.0:1.0:0.0	.	68;152;138;162	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	L	162;68	ENSP00000346827:S162L;ENSP00000440026:S68L	ENSP00000346827:S162L	S	-	2	0	ALDH9A1	163918075	1.000000	0.71417	0.993000	0.49108	0.312000	0.27988	7.735000	0.84939	2.701000	0.92244	0.650000	0.86243	TCG	ALDH9A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.498	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	HGNC	protein_coding	OTTHUMT00000083899.1	G			165651451	-1	no_errors	ENST00000354775	ensembl	human	known	70_37	missense	SNP	1.000	A	A	165651451	G	A	165651451	3	1	180	1	0	0	0	0	1	0	0	0	506	1059	37	1	1103	1	ALDH9A1	1	165651451	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3954409	165651451	83599170	23	33546										
LGR6	59352	genome.wustl.edu	37	chr1	202287768	202287768	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aggcacgtggcctggctcatCttcgcagacgggctcctcta	12	14	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:202287768C>A	ENST00000367278.3	+	18	2426	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	LGR6_ENST00000255432.7_Silent_p.I727I|LGR6_ENST00000439764.2_Silent_p.I640I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	779					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCTGGCTCATCTTCGCAGACG	0.642																																																	0													100	80	87					1																	202287768		2203	4300	6503	SO:0001819	synonymous_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2337C>A	1.37:g.202287768C>A			Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.I779	ENST00000367278.3	37	c.2337	CCDS30971.1	1																																																																																			LGR6	-	pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt		0.642	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	C	NM_021636		202287768	1	no_errors	ENST00000367278	ensembl	human	known	70_37	silent	SNP	1.000	A	A	202287768	C	A	202287768	2	1	180	1	0	0	0	0	0	0	0	1	8778	903	32	3		3	LGR6	1	202287768	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	36636317	202287768	46962853	24	33547										
NUAK2	81788	genome.wustl.edu	37	chr1	205280879	205280879	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tggttgagtgatgacatgatCtcaatctccctccgtatgtg	10	9	2	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:205280879C>T	ENST00000367157.3	-	2	432	c.306G>A	c.(304-306)gaG>gaA	p.E102E		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGACATGATCTCAATCTCCC	0.483																																																	0													456	326	370					1																	205280879		2203	4300	6503	SO:0001819	synonymous_variant	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.306G>A	1.37:g.205280879C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E102	ENST00000367157.3	37	c.306	CCDS1453.1	1																																																																																			NUAK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.483	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	C	NM_030952		205280879	-1	no_errors	ENST00000367157	ensembl	human	known	70_37	silent	SNP	1.000	T	T	205280879	C	T	205280879	2	4	180	1	0	0	0	0	0	0	0	1	10737	912	32	1		1	NUAK2	1	205280879	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2993111	205280879	43969742	25	33548										
USH2A	7399	genome.wustl.edu	37	chr1	216420458	216420458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acactgcccagagtgaggatTgcagaatttgttcactgagc	11	9	1	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:216420458T>C	ENST00000307340.3	-	13	2664	c.2278A>G	c.(2278-2280)Aat>Gat	p.N760D	USH2A_ENST00000366942.3_Missense_Mutation_p.N760D|USH2A_ENST00000366943.2_Missense_Mutation_p.N760D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	760	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTGAGGATTGCAGAATTTG	0.418										HNSCC(13;0.011)																																							0													113	115	114					1																	216420458		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2278A>G	1.37:g.216420458T>C	ENSP00000305941:p.Asn760Asp		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.N760D	ENST00000307340.3	37	c.2278	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257402	0.22965	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.50813	0.73;0.73;0.73	5.79	-0.938	0.10412	EGF-like, laminin (3);	0.279989	0.24703	N	0.036297	T	0.19604	0.0471	N	0.11131	0.1	0.29817	N	0.831196	B;B	0.10296	0.001;0.003	B;B	0.12156	0.004;0.007	T	0.27365	-1.0076	10	0.08381	T	0.77	.	5.9676	0.19334	0.0:0.1969:0.2525:0.5506	.	760;760	O75445-2;O75445	.;USH2A_HUMAN	D	760	ENSP00000305941:N760D;ENSP00000355910:N760D;ENSP00000355909:N760D	ENSP00000305941:N760D	N	-	1	0	USH2A	214487081	0.996000	0.38824	0.576000	0.28549	0.940000	0.58332	0.319000	0.19522	-0.418000	0.07450	0.533000	0.62120	AAT	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		216420458	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.996	C	C	216420458	T	C	216420458	3	2	180	1	0	0	0	0	1	0	0	0	17067	1812	63	5	13584	5	USH2A	1	216420458	Missense_Mutation	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	11139579	216420458	32830163	26	33549										
ENAH	55740	genome.wustl.edu	37	chr1	225707234	225707234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cgctccagcctttcccgctcCagctccttttgccgttgctg	8	18	0	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:225707234C>T	ENST00000366844.3	-	5	919	c.468G>A	c.(466-468)ctG>ctA	p.L156L	ENAH_ENST00000284563.6_Silent_p.L175L|ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Silent_p.L156L	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	156	9 X 5 AA tandem repeats of [LMQ]-E-[QR]- E-[QR].				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		tttcccgctccagctcctttt	0.433																																																	0													54	53	54					1																	225707234		2202	4300	6502	SO:0001819	synonymous_variant	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.468G>A	1.37:g.225707234C>T			D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Silent	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.L156	ENST00000366844.3	37	c.468	CCDS31041.1	1																																																																																			ENAH	-	NULL		0.433	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	C	NM_018212		225707234	-1	no_errors	ENST00000366844	ensembl	human	known	70_37	silent	SNP	1.000	T	T	225707234	C	T	225707234	2	4	180	1	0	0	0	0	0	0	0	1	5123	581	21	4		4	ENAH	1	225707234	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	9286776	225707234	23543387	27	33550										
OBSCN	84033	genome.wustl.edu	37	chr1	228456235	228456235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccttgtccatccccagagccCaaggtggtgtttgccaagga	11	13	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:228456235C>T	ENST00000422127.1	+	17	4910	c.4866C>T	c.(4864-4866)ccC>ccT	p.P1622P	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.P278P|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Silent_p.P1806P|OBSCN_ENST00000284548.11_Silent_p.P1622P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1622	Ig-like 17.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCAGAGCCCAAGGTGGTGT	0.627																																																	0													35	35	35					1																	228456235		1992	4170	6162	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4866C>T	1.37:g.228456235C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.P1622	ENST00000422127.1	37	c.4866	CCDS58065.1	1																																																																																			OBSCN	-	pfscan_Ig-like		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228456235	1	no_errors	ENST00000422127	ensembl	human	known	70_37	silent	SNP	0.009	T	T	228456235	C	T	228456235	2	4	180	1	0	0	0	0	0	0	0	1	10836	581	21	4		4	OBSCN	1	228456235	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2749001	228456235	20794386	28	33551										
OBSCN	84033	genome.wustl.edu	37	chr1	228524810	228524810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccagatcactgagatggtatCggccaagatcacgcagggtg	13	10	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:228524810C>T	ENST00000422127.1	+	65	16687	c.16643C>T	c.(16642-16644)tCg>tTg	p.S5548L	OBSCN_ENST00000366707.4_Missense_Mutation_p.S3182L|OBSCN_ENST00000570156.2_Missense_Mutation_p.S6505L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S5548L|OBSCN_ENST00000366709.4_Missense_Mutation_p.S2667L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5548					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGATGGTATCGGCCAAGATC	0.642																																																	0													63	71	68					1																	228524810		2070	4209	6279	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16643C>T	1.37:g.228524810C>T	ENSP00000409493:p.Ser5548Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S5548L	ENST00000422127.1	37	c.16643	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.707400	0.96821	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.70986	-0.31;-0.53;-0.48;-0.13	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000005	T	0.81898	0.4920	L	0.56769	1.78	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81409	-0.0946	10	0.44086	T	0.13	.	18.2245	0.89913	0.0:1.0:0.0:0.0	.	5548;5548	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	5548;5548;3182;2667	ENSP00000284548:S5548L;ENSP00000409493:S5548L;ENSP00000355668:S3182L;ENSP00000355670:S2667L	ENSP00000284548:S5548L	S	+	2	0	OBSCN	226591433	1.000000	0.71417	0.954000	0.39281	0.969000	0.65631	7.242000	0.78210	2.548000	0.85928	0.655000	0.94253	TCG	OBSCN	-	NULL		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228524810	1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	T	T	228524810	C	T	228524810	3	4	180	1	0	0	0	0	1	0	0	0	10836	893	31	1	16897	1	OBSCN	1	228524810	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	68575	228524810	20725811	29	33552										
CHRM3	1131	genome.wustl.edu	37	chr1	240071000	240071000	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	atcctggccttggtgaccatCatcggcaacatcctggtaat	9	12	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:240071000C>G	ENST00000255380.4	+	5	1028	c.249C>G	c.(247-249)atC>atG	p.I83M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	83					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGGTGACCATCATCGGCAACA	0.517																																																	0													136	113	121					1																	240071000		2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.249C>G	1.37:g.240071000C>G	ENSP00000255380:p.Ile83Met		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.I83M	ENST00000255380.4	37	c.249	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923677	0.52653	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.41065	1.01;1.01	5.6	5.6	0.85130	.	0.165996	0.53938	D	0.000054	T	0.58935	0.2157	L	0.57536	1.79	0.54753	D	0.999981	D	0.67145	0.996	D	0.68353	0.957	T	0.60047	-0.7339	10	0.87932	D	0	-31.5876	13.2207	0.59885	0.0:0.9274:0.0:0.0726	.	83	P20309	ACM3_HUMAN	M	83	ENSP00000255380:I83M;ENSP00000404764:I83M	ENSP00000255380:I83M	I	+	3	3	CHRM3	238137623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.152000	0.42272	2.788000	0.95919	0.650000	0.86243	ATC	CHRM3	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn		0.517	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	C	NM_000740		240071000	1	no_errors	ENST00000255380	ensembl	human	known	70_37	missense	SNP	1.000	G	G	240071000	C	G	240071000	3	3	180	1	0	0	0	0	1	0	0	0	3383	816	29	1	251	1	CHRM3	1	240071000	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	11546190	240071000	9179621	30	33553										
CHRM3	1131	genome.wustl.edu	37	chr1	240072373	240072373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	catcaacagcaccgtgaaccCcgtgtgctatgctctgtgca	9	14	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:240072373C>A	ENST00000255380.4	+	5	2401	c.1622C>A	c.(1621-1623)cCc>cAc	p.P541H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	541					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCGTGAACCCCGTGTGCTAT	0.483																																																	0													95	83	87					1																	240072373		2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1622C>A	1.37:g.240072373C>A	ENSP00000255380:p.Pro541His		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.P541H	ENST00000255380.4	37	c.1622	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974808	0.74360	.	.	ENSG00000133019	ENST00000255380	D	0.98807	-5.15	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99616	1.0982	10	0.87932	D	0	-22.4672	19.5758	0.95444	0.0:1.0:0.0:0.0	.	541	P20309	ACM3_HUMAN	H	541	ENSP00000255380:P541H	ENSP00000255380:P541H	P	+	2	0	CHRM3	238138996	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	CCC	CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	C	NM_000740		240072373	1	no_errors	ENST00000255380	ensembl	human	known	70_37	missense	SNP	1.000	A	A	240072373	C	A	240072373	3	1	180	1	0	0	0	0	1	0	0	0	3383	623	22	4	1624	4	CHRM3	1	240072373	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	1373	240072373	9178248	31	33554										
PPPDE1	51029	genome.wustl.edu	37	chr1	244869026	244869026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tggaggaagcagaggatgctGccgcatccgcttccgtggca	15	11	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr1:244869026G>A	ENST00000302550.11	+	5	899	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	DESI2_ENST00000263831.7_Missense_Mutation_p.A141T	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	174						cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										AGAGGATGCTGCCGCATCCGC	0.567																																																	0													43	45	44					1																	244869026		2203	4300	6503	SO:0001583	missense	51029			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"chromosome 1 open reading frame 121", "family with sequence similarity 152, member A", "PPPDE peptidase domain containing 1"	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.520G>A	1.37:g.244869026G>A	ENSP00000306528:p.Ala174Thr		B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	pfam_DUF862_euk	p.A174T	ENST00000302550.11	37	c.520	CCDS1626.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887520	0.72410	.	.	ENSG00000121644	ENST00000302550;ENST00000263831	.	.	.	6.17	6.17	0.99709	.	0.087715	0.85682	N	0.000000	T	0.56717	0.2004	L	0.54323	1.7	0.58432	D	0.999999	P;B	0.42692	0.787;0.319	B;B	0.41510	0.359;0.063	T	0.50600	-0.8809	9	0.11182	T	0.66	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	141;174	Q9BSY9-2;Q9BSY9	.;PPDE1_HUMAN	T	174;141	.	ENSP00000263831:A141T	A	+	1	0	PPPDE1	242935649	1.000000	0.71417	0.060000	0.19600	0.802000	0.45316	7.763000	0.85283	2.941000	0.99782	0.655000	0.94253	GCC	DESI2	-	NULL		0.567	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DESI2	HGNC	protein_coding	OTTHUMT00000097168.1	G	NM_016076		244869026	1	no_errors	ENST00000302550	ensembl	human	known	70_37	missense	SNP	0.998	A	A	244869026	G	A	244869026	3	1	180	1	0	0	0	0	1	0	0	0	12435	1319	46	4	538	4	PPPDE1	1	244869026	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4796653	244869026	4381595	32	33555										
TPO	7173	genome.wustl.edu	37	chr2	1544402	1544402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aaatccacactgcccatctcGgagacaggcggaggaactcc	10	14	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:1544402G>A	ENST00000345913.4	+	16	2746	c.2655G>A	c.(2653-2655)tcG>tcA	p.S885S	TPO_ENST00000329066.4_Silent_p.S885S|TPO_ENST00000382201.3_Silent_p.S828S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.S712S|TPO_ENST00000337415.3_Intron|TPO_ENST00000349624.3_Silent_p.S712S|TPO_ENST00000346956.3_Silent_p.S841S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	885					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCCCATCTCGGAGACAGGCG	0.642																																																	0													93	80	84					2																	1544402		2203	4300	6503	SO:0001819	synonymous_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2655G>A	2.37:g.1544402G>A			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S885	ENST00000345913.4	37	c.2655	CCDS1643.1	2																																																																																			TPO	-	NULL		0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1544402	1	no_errors	ENST00000329066	ensembl	human	known	70_37	silent	SNP	0.001	A	A	1544402	G	A	1544402	2	1	180	1	0	0	0	0	0	0	0	1	16441	1103	39	2		2	TPO	2	1544402	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		1544402	241654971	33	33556										
GALM	130589	genome.wustl.edu	37	chr2	38893461	38893461	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agacaggcaggggagagcctCggacgtggtgcttggcttcg	18	9	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:38893461C>G	ENST00000272252.5	+	1	410	c.158C>G	c.(157-159)tCg>tGg	p.S53W	AC074366.3_ENST00000446277.1_RNA|GALM_ENST00000410063.1_Missense_Mutation_p.S53W	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	53					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GGGAGAGCCTCGGACGTGGTG	0.612																																																	0													89	74	79					2																	38893461		2203	4300	6503	SO:0001583	missense	130589				CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"aldose 1 epimerase"	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.158C>G	2.37:g.38893461C>G	ENSP00000272252:p.Ser53Trp		Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd	p.S53W	ENST00000272252.5	37	c.158	CCDS1797.1	2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647217	0.87958	.	.	ENSG00000143891	ENST00000272252;ENST00000410063	T	0.46063	0.88	5.13	5.13	0.70059	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.297281	0.31847	N	0.006977	T	0.48409	0.1498	L	0.29908	0.895	0.47214	D	0.999354	D	0.67145	0.996	P	0.55713	0.782	T	0.51521	-0.8695	10	0.87932	D	0	-7.5426	18.3672	0.90396	0.0:1.0:0.0:0.0	.	53	Q96C23	GALM_HUMAN	W	53	ENSP00000272252:S53W	ENSP00000272252:S53W	S	+	2	0	GALM	38746965	0.024000	0.19004	0.998000	0.56505	0.955000	0.61496	2.004000	0.40854	2.660000	0.90430	0.655000	0.94253	TCG	GALM	-	pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd		0.612	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALM	HGNC	protein_coding	OTTHUMT00000219891.2	C	NM_138801		38893461	1	no_errors	ENST00000272252	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38893461	C	G	38893461	3	3	180	1	0	0	0	0	1	0	0	0	6224	893	31	1	160	1	GALM	2	38893461	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	37349059	38893461	204305912	34	33557										
C2orf42	54980	genome.wustl.edu	37	chr2	70408572	70408572	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aagatgtttttagtaattctCtgcaccagaggacctgtggg	11	7	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:70408572C>T	ENST00000264434.2	-	3	925	c.546G>A	c.(544-546)caG>caA	p.Q182Q	C2orf42_ENST00000470096.1_5'Flank|C2orf42_ENST00000420306.1_Silent_p.Q182Q	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	182										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TAGTAATTCTCTGCACCAGAG	0.498																																																	0													96	94	95					2																	70408572		2203	4300	6503	SO:0001819	synonymous_variant	54980			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.546G>A	2.37:g.70408572C>T			D6W5G3|Q9H629	Silent	SNP	NULL	p.Q182	ENST00000264434.2	37	c.546	CCDS1899.1	2																																																																																			C2orf42	-	NULL		0.498	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	C	NM_017880		70408572	-1	no_errors	ENST00000264434	ensembl	human	known	70_37	silent	SNP	1.000	T	T	70408572	C	T	70408572	2	4	180	1	0	0	0	0	0	0	0	1	2171	912	32	1		1	C2orf42	2	70408572	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	31515111	70408572	172790801	35	33558										
VAX2	25806	genome.wustl.edu	37	chr2	71160168	71160168	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	caacccgctgtcctcggcctCagcgtcccccccactgccgc	8	23	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:71160168C>T	ENST00000234392.2	+	3	739	c.707C>T	c.(706-708)tCa>tTa	p.S236L	snoU13_ENST00000459218.1_RNA|ATP6V1B1_ENST00000412314.1_5'Flank|ATP6V1B1_ENST00000234396.4_5'Flank	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	236					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						TCCTCGGCCTCAGCGTCCCCC	0.687																																																	0													25	28	27					2																	71160168		2203	4299	6502	SO:0001583	missense	25806			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"Homeoboxes / ANTP class : NKL subclass"	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.707C>T	2.37:g.71160168C>T	ENSP00000234392:p.Ser236Leu		Q53Y33	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S236L	ENST00000234392.2	37	c.707	CCDS1911.1	2	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643569	0.29246	.	.	ENSG00000116035	ENST00000234392	D	0.90504	-2.68	4.96	4.96	0.65561	.	0.357657	0.29876	N	0.010961	D	0.83575	0.5284	L	0.27053	0.805	0.33771	D	0.6231	B	0.30482	0.281	B	0.25405	0.06	D	0.84567	0.0653	10	0.21540	T	0.41	-2.0315	15.6925	0.77466	0.0:1.0:0.0:0.0	.	236	Q9UIW0	VAX2_HUMAN	L	236	ENSP00000234392:S236L	ENSP00000234392:S236L	S	+	2	0	VAX2	71013676	0.003000	0.15002	0.005000	0.12908	0.087000	0.18053	1.979000	0.40608	2.293000	0.77203	0.313000	0.20887	TCA	VAX2	-	NULL		0.687	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAX2	HGNC	protein_coding	OTTHUMT00000251923.1	C			71160168	1	no_errors	ENST00000234392	ensembl	human	known	70_37	missense	SNP	0.824	T	T	71160168	C	T	71160168	3	4	180	1	0	0	0	0	1	0	0	0	17166	838	29	1	717	1	VAX2	2	71160168	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	751596	71160168	172039205	36	33559										
MPHOSPH10	10199	genome.wustl.edu	37	chr2	71371643	71371643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cttaaaattggatgccctctCaaacttccactttatcccta	3	13	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:71371643C>T	ENST00000244230.2	+	8	1884	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	511					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GATGCCCTCTCAAACTTCCAC	0.393																																																	0													109	99	102					2																	71371643		2203	4300	6503	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1532C>T	2.37:g.71371643C>T	ENSP00000244230:p.Ser511Leu		A0AVJ8	Missense_Mutation	SNP	pfam_Mpp10,pirsf_snoRNP_Mpp10	p.S511L	ENST00000244230.2	37	c.1532	CCDS1916.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.117842	0.94385	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.16196	2.36;2.36	5.58	5.58	0.84498	.	0.116139	0.64402	D	0.000011	T	0.48352	0.1495	M	0.88906	2.99	0.80722	D	1	D	0.67145	0.996	D	0.64506	0.926	T	0.55302	-0.8162	10	0.87932	D	0	.	17.4466	0.87579	0.0:1.0:0.0:0.0	.	511	O00566	MPP10_HUMAN	L	511;371	ENSP00000244230:S511L;ENSP00000393034:S371L	ENSP00000244230:S511L	S	+	2	0	MPHOSPH10	71225151	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	4.387000	0.59626	2.794000	0.96219	0.655000	0.94253	TCA	MPHOSPH10	-	pfam_Mpp10,pirsf_snoRNP_Mpp10		0.393	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH10	HGNC	protein_coding	OTTHUMT00000251924.2	C	NM_005791		71371643	1	no_errors	ENST00000244230	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71371643	C	T	71371643	3	4	180	1	0	0	0	0	1	0	0	0	9748	838	29	1	1562	1	MPHOSPH10	2	71371643	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	211475	71371643	171827730	37	33560										
C2orf7	84279	genome.wustl.edu	37	chr2	73456686	73456686	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggggacaaggtgaatctgctCataccttgtgtgctgaaaaa	12	7	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:73456686C>T	ENST00000258083.2	-	3	248	c.181G>A	c.(181-183)Gag>Aag	p.E61K	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	61						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						TGAATCTGCTCATACCTTGTG	0.507																																																	0													92	89	90					2																	73456686		2203	4300	6503	SO:0001583	missense	84279			BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"protease-associated domain-containing glycoprotein 21 kDa"		"chromosome 2 open reading frame 7"	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.181G>A	2.37:g.73456686C>T	ENSP00000258083:p.Glu61Lys		Q2Z1P2	Missense_Mutation	SNP	pfam_Protease-assoc_domain	p.E61K	ENST00000258083.2	37	c.181	CCDS1924.1	2	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161746	0.57368	.	.	ENSG00000135617	ENST00000258083	.	.	.	4.98	4.98	0.66077	.	0.057088	0.64402	D	0.000004	T	0.38427	0.1040	N	0.12502	0.225	0.50813	D	0.999891	B	0.14805	0.011	B	0.22880	0.042	T	0.25606	-1.0127	9	0.06236	T	0.91	-24.8177	17.3441	0.87305	0.0:1.0:0.0:0.0	.	61	Q9BSG0	PADC1_HUMAN	K	61	.	ENSP00000258083:E61K	E	-	1	0	PRADC1	73310194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.023000	0.70848	2.753000	0.94483	0.655000	0.94253	GAG	PRADC1	-	NULL		0.507	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRADC1	HGNC	protein_coding	OTTHUMT00000251989.1	C	NM_032319		73456686	-1	no_errors	ENST00000258083	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73456686	C	T	73456686	3	4	180	1	0	0	0	0	1	0	0	0	2194	835	29	1	397	1	C2orf7	2	73456686	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2085043	73456686	169742687	38	33561										
EGR4	1961	genome.wustl.edu	37	chr2	73520479	73520479	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgtggggcgcccggggcctCgcccgctgggcttgggggcg	21	14	0	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:73520479C>T	ENST00000545030.1	-	1	350	c.276G>A	c.(274-276)gcG>gcA	p.A92A	EGR4_ENST00000436467.2_5'UTR	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	92					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGGGGCCTCGCCCGCTGGG	0.736																																																	0													5	6	6					2																	73520479		2048	3977	6025	SO:0001819	synonymous_variant	1961				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.276G>A	2.37:g.73520479C>T			B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A92	ENST00000545030.1	37	c.276	CCDS1925.2	2																																																																																			EGR4	-	NULL		0.736	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR4	HGNC	protein_coding		C	NM_001965		73520479	-1	no_errors	ENST00000545030	ensembl	human	known	70_37	silent	SNP	0.331	T	T	73520479	C	T	73520479	2	4	180	1	0	0	0	0	0	0	0	1	4984	871	31	1		1	EGR4	2	73520479	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	63793	73520479	169678894	39	33562										
C2orf68	388969	genome.wustl.edu	37	chr2	85838793	85838793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cggggcgggcggcctcacctCggtgtcgcggcaggtacacc	17	15	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:85838793C>T	ENST00000306336.5	-	2	268	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	USP39_ENST00000459775.1_Intron|C2orf68_ENST00000478626.1_5'UTR|C2orf68_ENST00000409734.3_Missense_Mutation_p.R75Q|USP39_ENST00000450066.2_5'Flank	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	75										breast(1)|central_nervous_system(1)|endometrium(1)	3						GGCCTCACCTCGGTGTCGCGG	0.667																																																	0													4	6	6					2																	85838793		1749	3839	5588	SO:0001583	missense	388969				CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.224G>A	2.37:g.85838793C>T	ENSP00000304410:p.Arg75Gln		B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	pfam_UPF0561	p.R75Q	ENST00000306336.5	37	c.224	CCDS42704.1	2	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767827	0.69878	.	.	ENSG00000168887	ENST00000306336;ENST00000409734	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	L	0.44542	1.39	0.54753	D	0.999984	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.933	T	0.64947	-0.6287	9	0.37606	T	0.19	-10.2317	16.8002	0.85612	0.0:1.0:0.0:0.0	.	75;75	Q2NKX9-3;Q2NKX9	.;CB068_HUMAN	Q	75	.	ENSP00000304410:R75Q	R	-	2	0	C2orf68	85692304	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	4.130000	0.57964	2.832000	0.97577	0.585000	0.79938	CGA	C2orf68	-	pfam_UPF0561		0.667	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf68	HGNC	protein_coding	OTTHUMT00000329451.1	C	NM_001013649		85838793	-1	no_errors	ENST00000306336	ensembl	human	known	70_37	missense	SNP	1.000	T	T	85838793	C	T	85838793	3	4	180	1	0	0	0	0	1	0	0	0	2192	884	31	1	288	1	C2orf68	2	85838793	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	12318314	85838793	157360580	40	33563										
VWA3B	200403	genome.wustl.edu	37	chr2	98928686	98928686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcccacctccacttccccgcGgccgggcgtctaggactcag	11	19	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:98928686G>A	ENST00000477737.1	+	28	3963	c.3759G>A	c.(3757-3759)gcG>gcA	p.A1253A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1253										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTTCCCCGCGGCCGGGCGTC	0.597																																																	0													44	52	49					2																	98928686		2041	4197	6238	SO:0001819	synonymous_variant	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3759G>A	2.37:g.98928686G>A			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A1253	ENST00000477737.1	37	c.3759	CCDS42718.1	2																																																																																			VWA3B	-	NULL		0.597	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	G	NM_144992		98928686	1	no_errors	ENST00000477737	ensembl	human	known	70_37	silent	SNP	0.000	A	A	98928686	G	A	98928686	2	1	180	1	0	0	0	0	0	0	0	1	17272	1103	39	2		2	VWA3B	2	98928686	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	13089893	98928686	144270687	41	33564										
CHST10	9486	genome.wustl.edu	37	chr2	101009777	101009777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cttcgaaacgggcatacaggCgtcggatgtctcgtttgctg	13	10	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:101009777C>T	ENST00000264249.3	-	7	1386	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	CHST10_ENST00000409701.1_Missense_Mutation_p.R334H|CHST10_ENST00000542617.1_Missense_Mutation_p.R382H	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	334					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGCATACAGGCGTCGGATGTC	0.463																																																	0													131	124	126					2																	101009777		2203	4300	6503	SO:0001583	missense	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.1001G>A	2.37:g.101009777C>T	ENSP00000264249:p.Arg334His		Q53T18	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R382H	ENST00000264249.3	37	c.1145	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.506025	0.96386	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.75938	-0.98;-0.98;-0.98	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.85289	0.1066	10	0.59425	D	0.04	-30.282	20.2963	0.98556	0.0:1.0:0.0:0.0	.	334	O43529	CHSTA_HUMAN	H	334;382;334	ENSP00000264249:R334H;ENSP00000438869:R382H;ENSP00000387309:R334H	ENSP00000264249:R334H	R	-	2	0	CHST10	100376209	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	4.959000	0.63666	2.813000	0.96785	0.655000	0.94253	CGC	CHST10	-	pfam_Sulfotransferase		0.463	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1	C	NM_004854		101009777	-1	no_errors	ENST00000542617	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101009777	C	T	101009777	3	4	180	1	0	0	0	0	1	0	0	0	3403	768	27	2	73	2	CHST10	2	101009777	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2081091	101009777	142189596	42	33565										
MAP4K4	9448	genome.wustl.edu	37	chr2	102483733	102483733	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aaaatgcagtgaaaaaacctGaagataaaaaggaagttttc	8	4	0	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:102483733G>A	ENST00000347699.4	+	19	2182	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	MAP4K4_ENST00000413150.2_Missense_Mutation_p.E643K|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E528K|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E644K|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E697K|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E701K|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E527K|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E806K	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	728					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAAAAAACCTGAAGATAAAAA	0.408																																																	0													84	81	82					2																	102483733		1856	4111	5967	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2182G>A	2.37:g.102483733G>A	ENSP00000314363:p.Glu728Lys		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E806K	ENST00000347699.4	37	c.2416	CCDS56130.1	2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959537	0.74016	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.55	5.55	0.83447	.	0.232716	0.42420	D	0.000706	T	0.17662	0.0424	L	0.52126	1.63	0.52501	D	0.999958	P;B;P;P;B;P;D;B;P;B	0.58620	0.455;0.139;0.716;0.455;0.218;0.874;0.983;0.218;0.745;0.383	B;B;B;B;B;B;P;B;P;B	0.46796	0.076;0.038;0.153;0.052;0.083;0.391;0.527;0.083;0.458;0.237	T	0.00577	-1.1662	10	0.36615	T	0.2	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	701;721;527;528;643;728;697;644;697;806	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	K	697;806;644;528;643;527;728;659;701	ENSP00000392830:E697K;ENSP00000313644:E806K;ENSP00000281111:E644K;ENSP00000303600:E528K;ENSP00000389752:E643K;ENSP00000387370:E527K;ENSP00000314363:E728K;ENSP00000409720:E659K;ENSP00000343658:E701K	ENSP00000303600:E528K	E	+	1	0	MAP4K4	101850165	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.692000	0.91284	2.612000	0.88384	0.655000	0.94253	GAA	MAP4K4	-	NULL		0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	G	NM_004834		102483733	1	no_errors	ENST00000324219	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102483733	G	A	102483733	3	1	180	1	0	0	0	0	1	0	0	0	9285	1291	45	1	2494	1	MAP4K4	2	102483733	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1473956	102483733	140715640	43	33566										
MRPS9	64965	genome.wustl.edu	37	chr2	105654622	105654622	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctctggggtaggggtagcctCgcccggaagcaaggcctctg	16	12	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:105654622C>T	ENST00000258455.3	+	1	182	c.72C>T	c.(70-72)ctC>ctT	p.L24L	AC010884.1_ENST00000456519.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	24					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGGGTAGCCTCGCCCGGAAGC	0.617																																																	0													32	31	31					2																	105654622		2203	4300	6503	SO:0001819	synonymous_variant	64965				CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"Mitochondrial ribosomal proteins / small subunits"	14501	protein-coding gene	gene with protein product	"28S ribosomal protein S9, mitochondrial"	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.72C>T	2.37:g.105654622C>T			Q6PG40	Silent	SNP	pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold	p.L24	ENST00000258455.3	37	c.72	CCDS2065.1	2																																																																																			MRPS9	-	NULL		0.617	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS9	HGNC	protein_coding	OTTHUMT00000253352.1	C	NM_182640		105654622	1	no_errors	ENST00000258455	ensembl	human	known	70_37	silent	SNP	0.000	T	T	105654622	C	T	105654622	2	4	180	1	0	0	0	0	0	0	0	1	9872	871	31	1		1	MRPS9	2	105654622	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3170889	105654622	137544751	44	33567										
RANBP2	5903	genome.wustl.edu	37	chr2	109380099	109380099	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aactccttttaaatttaactCaaatttcaaatcaaatgatg	2	7	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:109380099C>G	ENST00000283195.6	+	20	3230	c.3104C>G	c.(3103-3105)tCa>tGa	p.S1035*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1035					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATTTAACTCAAATTTCAAA	0.438																																																	0													104	104	104					2																	109380099		2203	4299	6502	SO:0001587	stop_gained	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3104C>G	2.37:g.109380099C>G	ENSP00000283195:p.Ser1035*		Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.S1035*	ENST00000283195.6	37	c.3104	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.740062	0.98935	.	.	ENSG00000153201	ENST00000283195	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.0885	19.8051	0.96529	0.0:1.0:0.0:0.0	.	.	.	.	X	1035	.	ENSP00000283195:S1035X	S	+	2	0	RANBP2	108746531	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.919000	0.56439	2.672000	0.90937	0.557000	0.71058	TCA	RANBP2	-	NULL		0.438	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	C	NM_006267		109380099	1	no_errors	ENST00000283195	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	109380099	C	G	109380099	4	3	180	1	0	0	0	0	0	1	0	0	13058	838	29	1	3182	1	RANBP2	2	109380099	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3725477	109380099	133819274	45	33568										
ZC3H6	376940	genome.wustl.edu	37	chr2	113067694	113067694	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgctttagggtcatcattttCtaaagaatcaggaaaaaaac	7	6	4	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:113067694C>G	ENST00000409871.1	+	4	970	c.569C>G	c.(568-570)tCt>tGt	p.S190C	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S190C	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	190							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TCATCATTTTCTAAAGAATCA	0.368																																																	0													56	54	55					2																	113067694		1822	4080	5902	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.569C>G	2.37:g.113067694C>G	ENSP00000386764:p.Ser190Cys		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S190C	ENST00000409871.1	37	c.569	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987935	0.53934	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15372	2.43;2.43	5.93	3.97	0.46021	.	1.439130	0.03937	N	0.286230	T	0.28134	0.0694	L	0.43152	1.355	0.27177	N	0.960767	D	0.65815	0.995	P	0.52672	0.706	T	0.12142	-1.0559	10	0.52906	T	0.07	-11.1039	9.1571	0.36998	0.1292:0.7289:0.0:0.1419	.	190	P61129	ZC3H6_HUMAN	C	190;190;167	ENSP00000386764:S190C;ENSP00000340298:S190C	ENSP00000340298:S190C	S	+	2	0	ZC3H6	112784165	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.585000	0.36600	1.513000	0.48852	0.561000	0.74099	TCT	ZC3H6	-	NULL		0.368	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	C	NM_198581		113067694	1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113067694	C	G	113067694	3	3	180	1	0	0	0	0	1	0	0	0	17601	913	32	1	583	1	ZC3H6	2	113067694	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3687595	113067694	130131679	46	33569										
POTEE	445582	genome.wustl.edu	37	chr2	131976377	131976377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttcatggagcccaggtaccaCgtccgtggagaagatctgga	13	10	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:131976377C>T	ENST00000356920.5	+	1	496	c.402C>T	c.(400-402)caC>caT	p.H134H	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.H134H|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	134					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCAGGTACCACGTCCGTGGAG	0.602																																																	0													75	77	76					2																	131976377		2203	4300	6503	SO:0001819	synonymous_variant	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.402C>T	2.37:g.131976377C>T			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.H134	ENST00000356920.5	37	c.402	CCDS46414.1	2																																																																																			POTEE	-	NULL		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Uniprot_genename	protein_coding		C	NM_001083538		131976377	1	no_errors	ENST00000356920	ensembl	human	known	70_37	silent	SNP	0.007	T	T	131976377	C	T	131976377	2	4	180	1	0	0	0	0	0	0	0	1	12288	535	19	2		2	POTEE	2	131976377	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	18908683	131976377	111222996	47	33570										
LCT	3938	genome.wustl.edu	37	chr2	136546109	136546109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cacggggctgatggtgggtcCagcatctaggagagtgtgac	17	8	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:136546109C>T	ENST00000264162.2	-	17	5579	c.5569G>A	c.(5569-5571)Gga>Aga	p.G1857R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1857					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATGGTGGGTCCAGCATCTAGG	0.557																																																	0													90	87	88					2																	136546109		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5569G>A	2.37:g.136546109C>T	ENSP00000264162:p.Gly1857Arg		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.G1857R	ENST00000264162.2	37	c.5569	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035419	0.19590	.	.	ENSG00000115850	ENST00000264162	T	0.26660	1.72	5.53	4.62	0.57501	.	2.487100	0.01408	N	0.013890	T	0.26448	0.0646	L	0.40543	1.245	0.09310	N	1	B	0.27732	0.187	B	0.21546	0.035	T	0.30822	-0.9965	10	0.16420	T	0.52	0.0176	14.0535	0.64751	0.0:0.8504:0.1496:0.0	.	1857	P09848	LPH_HUMAN	R	1857	ENSP00000264162:G1857R	ENSP00000264162:G1857R	G	-	1	0	LCT	136262579	0.000000	0.05858	0.011000	0.14972	0.082000	0.17680	0.392000	0.20801	2.871000	0.98454	0.655000	0.94253	GGA	LCT	-	NULL		0.557	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	C	NM_002299		136546109	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	missense	SNP	0.015	T	T	136546109	C	T	136546109	3	4	180	1	0	0	0	0	1	0	0	0	8713	603	21	4	218	4	LCT	2	136546109	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	4569732	136546109	106653264	48	33571										
LRP1B	53353	genome.wustl.edu	37	chr2	141643896	141643896	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agaaaagatgatgaatgcttCaaaaggatctgaaattaaat	8	3	2	5			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:141643896C>T	ENST00000389484.3	-	24	4746	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1259					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E1259*(1)|p.E1259K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGAATGCTTCAAAAGGATCT	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(2)											48	49	49					2																	141643896		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3775G>A	2.37:g.141643896C>T	ENSP00000374135:p.Glu1259Lys		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1259K	ENST00000389484.3	37	c.3775	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479156	0.44044	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.93247	-2.58;-3.19	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93138	0.7815	L	0.35593	1.075	0.58432	D	0.999999	B;D	0.67145	0.058;0.996	B;P	0.57620	0.047;0.824	D	0.89868	0.4021	10	0.12430	T	0.62	.	20.0175	0.97485	0.0:1.0:0.0:0.0	.	442;1259	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1259;1197;404	ENSP00000374135:E1259K;ENSP00000413239:E404K	ENSP00000374135:E1259K	E	-	1	0	LRP1B	141360366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.797000	0.62503	2.730000	0.93505	0.650000	0.86243	GAA	LRP1B	-	NULL		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141643896	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141643896	C	T	141643896	3	4	180	1	0	0	0	0	1	0	0	0	8978	835	29	1	10296	1	LRP1B	2	141643896	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	5097787	141643896	101555477	49	33572										
TBR1	10716	genome.wustl.edu	37	chr2	162275534	162275534	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttccctgagactcagttcatCgccgtcaccgcctaccagaa	7	16	3	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:162275534C>T	ENST00000389554.3	+	4	1418	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	TBR1_ENST00000410035.1_Silent_p.I80I	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	367					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CTCAGTTCATCGCCGTCACCG	0.642																																																	0													98	94	95					2																	162275534		2203	4300	6503	SO:0001819	synonymous_variant	10716			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1101C>T	2.37:g.162275534C>T			B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.I367	ENST00000389554.3	37	c.1101	CCDS33310.1	2																																																																																			TBR1	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.642	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	C	NM_006593		162275534	1	no_errors	ENST00000389554	ensembl	human	known	70_37	silent	SNP	1.000	T	T	162275534	C	T	162275534	2	4	180	1	0	0	0	0	0	0	0	1	15677	874	31	1		1	TBR1	2	162275534	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	20631638	162275534	80923839	50	33573										
GCG	2641	genome.wustl.edu	37	chr2	163000611	163000611	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttatcaagaatggtgttcatCtcatcagagaaagaaccatc	7	8	4	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:163000611C>G	ENST00000418842.2	-	5	716	c.462G>C	c.(460-462)gaG>gaC	p.E154D	GCG_ENST00000375497.3_Missense_Mutation_p.E154D	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	154					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						TGGTGTTCATCTCATCAGAGA	0.398																																																	0													105	101	103					2																	163000611		1892	4132	6024	SO:0001583	missense	2641				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.462G>C	2.37:g.163000611C>G	ENSP00000387662:p.Glu154Asp		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.E154D	ENST00000418842.2	37	c.462	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	C	5.313	0.243133	0.10077	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.15718	2.4;2.4	5.75	3.97	0.46021	Glucagon/GIP/secretin/VIP (3);	0.079834	0.52532	D	0.000070	T	0.07324	0.0185	N	0.03238	-0.38	0.33775	D	0.623558	B	0.21225	0.053	B	0.22386	0.039	T	0.07462	-1.0771	10	0.87932	D	0	-15.9759	5.5735	0.17210	0.2434:0.5997:0.0:0.1569	.	154	P01275	GLUC_HUMAN	D	154	ENSP00000387662:E154D;ENSP00000364647:E154D	ENSP00000364647:E154D	E	-	3	2	GCG	162708857	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.696000	0.25541	0.789000	0.33779	0.650000	0.86243	GAG	GCG	-	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP		0.398	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	C	NM_002054		163000611	-1	no_errors	ENST00000375497	ensembl	human	known	70_37	missense	SNP	1.000	G	G	163000611	C	G	163000611	3	3	180	1	0	0	0	0	1	0	0	0	6309	912	32	1	88	1	GCG	2	163000611	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	725077	163000611	80198762	51	33574										
SCN9A	6335	genome.wustl.edu	37	chr2	167055975	167055975	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	taccacagtctccttcaactGaacttccaggatgaactttt	5	12	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:167055975G>A	ENST00000409435.1	-	26	5173	c.5174C>T	c.(5173-5175)tCa>tTa	p.S1725L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1726L|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1726L|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1714L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1725					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTTCAACTGAACTTCCAGG	0.423																																																	0													245	263	257					2																	167055975		2202	4300	6502	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5174C>T	2.37:g.167055975G>A	ENSP00000386330:p.Ser1725Leu		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.S1726L	ENST00000409435.1	37	c.5177	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133459	0.37630	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96265	-3.93;-3.95;-3.96;-3.95	5.86	4.98	0.66077	.	0.150110	0.32093	N	0.006591	D	0.94046	0.8092	M	0.64170	1.965	0.30426	N	0.777643	B	0.13145	0.007	B	0.19946	0.027	D	0.91042	0.4872	10	0.66056	D	0.02	.	6.8548	0.24034	0.1432:0.0:0.7139:0.1429	.	1714	E7EUN6	.	L	1714;1726;1726;1725	ENSP00000386306:S1714L;ENSP00000364536:S1726L;ENSP00000304748:S1726L;ENSP00000386330:S1725L	ENSP00000304748:S1726L	S	-	2	0	SCN9A	166764221	0.005000	0.15991	0.921000	0.36526	0.996000	0.88848	1.615000	0.36922	1.490000	0.48466	0.655000	0.94253	TCA	SCN9A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	G	NM_002977		167055975	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	0.653	A	A	167055975	G	A	167055975	3	1	180	1	0	0	0	0	1	0	0	0	13955	1294	45	1	796	1	SCN9A	2	167055975	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4055364	167055975	76143398	52	33575										
LRP2	4036	genome.wustl.edu	37	chr2	170066032	170066032	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	atgtgtcacaatgttcatcaGagaagatccatctggtttaa	8	7	4	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:170066032G>C	ENST00000263816.3	-	38	6685	c.6400C>G	c.(6400-6402)Ctg>Gtg	p.L2134V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2134					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATGTTCATCAGAGAAGATCCA	0.413																																																	0													161	153	156					2																	170066032		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6400C>G	2.37:g.170066032G>C	ENSP00000263816:p.Leu2134Val		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L2134V	ENST00000263816.3	37	c.6400	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	8.429	0.848143	0.17034	.	.	ENSG00000081479	ENST00000263816	D	0.90844	-2.74	6.03	4.85	0.62838	Six-bladed beta-propeller, TolB-like (1);	0.167364	0.56097	D	0.000034	T	0.75925	0.3916	N	0.04820	-0.15	0.80722	D	1	B	0.31910	0.346	B	0.27380	0.079	T	0.66980	-0.5786	10	0.14656	T	0.56	.	8.2664	0.31817	0.8162:0.0:0.0644:0.1193	.	2134	P98164	LRP2_HUMAN	V	2134	ENSP00000263816:L2134V	ENSP00000263816:L2134V	L	-	1	2	LRP2	169774278	1.000000	0.71417	0.003000	0.11579	0.478000	0.33099	7.476000	0.81055	0.486000	0.27676	-0.254000	0.11334	CTG	LRP2	-	smart_LDLR_classB_rpt		0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170066032	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.993	C	C	170066032	G	C	170066032	3	2	180	1	0	0	0	0	1	0	0	0	8979	933	33	1	7735	1	LRP2	2	170066032	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3010057	170066032	73133341	53	33576										
ZAK	51776	genome.wustl.edu	37	chr2	174086238	174086238	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acggtgaggaggaggataatGacatggataatagtgaatga	15	2	0	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:174086238G>T	ENST00000375213.3	+	11	1065				MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.D450Y|MLTK_ENST00000431503.2_Missense_Mutation_p.D349Y|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000338983.3_Missense_Mutation_p.D450Y|MLTK_ENST00000409176.2_Intron	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										ggaggataatgaCATGGATAA	0.383																																																	0													29	29	29					2																	174086238		2203	4300	6503	SO:0001627	intron_variant	51776																														ENST00000375213.3:c.987+4260G>T	2.37:g.174086238G>T			B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D450Y	ENST00000375213.3	37	c.1348	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304470	0.40795	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;D	0.82081	-1.16;-1.16;-1.57	5.3	4.41	0.53225	.	.	.	.	.	T	0.71333	0.3327	N	0.14661	0.345	0.25851	N	0.983934	B;B	0.12013	0.005;0.005	B;B	0.08055	0.002;0.003	T	0.61768	-0.6995	9	0.42905	T	0.14	.	13.3905	0.60821	0.0:0.0:0.8426:0.1574	.	450;450	A8K710;D4Q8H0	.;.	Y	450;450;349	ENSP00000439414:D450Y;ENSP00000340257:D450Y;ENSP00000399787:D349Y	ENSP00000340257:D450Y	D	+	1	0	AC013461.1	173794484	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.230000	0.51286	1.440000	0.47531	0.655000	0.94253	GAC	MLTK	-	NULL		0.383	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	G			174086238	1	no_errors	ENST00000338983	ensembl	human	known	70_37	missense	SNP	1.000	T	T	174086238	G	T	174086238	1	4	180	0	1	0	0	0	0	0	0	0	17543	1290	45	3		3	ZAK	2	174086238	Intron	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4020206	174086238	69113135	54	33577										
SCRN3	79634	genome.wustl.edu	37	chr2	175265809	175265809	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gccagggtggaaattgcacaGagggtagaatggtatttagc	15	5	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:175265809G>C	ENST00000272732.6	+	4	515	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	SCRN3_ENST00000409673.3_Missense_Mutation_p.E138Q	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	145							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAATTGCACAGAGGGTAGAAT	0.428																																																	0													77	76	76					2																	175265809		2203	4300	6503	SO:0001583	missense	79634			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.433G>C	2.37:g.175265809G>C	ENSP00000272732:p.Glu145Gln		B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	pfam_Peptidase_C69	p.E145Q	ENST00000272732.6	37	c.433	CCDS2258.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673489	0.88445	.	.	ENSG00000144306	ENST00000458563;ENST00000409673;ENST00000272732;ENST00000548031	T;T;T;T	0.21031	2.07;2.86;2.87;2.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.55457	-0.8138	10	0.51188	T	0.08	-18.004	19.8987	0.96976	0.0:0.0:1.0:0.0	.	138;145	B4DI11;Q0VDG4	.;SCRN3_HUMAN	Q	145;138;145;145	ENSP00000396884:E145Q;ENSP00000387142:E138Q;ENSP00000272732:E145Q;ENSP00000446727:E145Q	ENSP00000272732:E145Q	E	+	1	0	SCRN3	174974055	1.000000	0.71417	0.995000	0.50966	0.846000	0.48090	9.752000	0.98900	2.782000	0.95742	0.579000	0.79373	GAG	SCRN3	-	pfam_Peptidase_C69		0.428	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	HGNC	protein_coding	OTTHUMT00000255451.2	G	NM_024583		175265809	1	no_errors	ENST00000272732	ensembl	human	known	70_37	missense	SNP	1.000	C	C	175265809	G	C	175265809	3	2	180	1	0	0	0	0	1	0	0	0	13970	943	33	1	443	1	SCRN3	2	175265809	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1179571	175265809	67933564	55	33578										
PDE11A	50940	genome.wustl.edu	37	chr2	178682599	178682599	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcttacctcaaaaagtcgttGatctgcatcatcaaaaggtt	6	9	5	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:178682599G>C	ENST00000286063.6	-	8	1947	c.1630C>G	c.(1630-1632)Caa>Gaa	p.Q544E	PDE11A_ENST00000449286.2_Missense_Mutation_p.Q186E|PDE11A_ENST00000409504.1_Missense_Mutation_p.Q186E|PDE11A_ENST00000358450.4_Missense_Mutation_p.Q294E|PDE11A_ENST00000389683.3_Missense_Mutation_p.Q100E|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	544	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AAAAGTCGTTGATCTGCATCA	0.373									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													83	88	86					2																	178682599		2203	4300	6503	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1630C>G	2.37:g.178682599G>C	ENSP00000286063:p.Gln544Glu		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Q544E	ENST00000286063.6	37	c.1630	CCDS33334.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.460|7.460	0.644483|0.644483	0.14451|0.14451	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|T;T;T;T;T	.|0.64438	.|-0.1;-0.1;-0.1;-0.1;-0.1	5.82|5.82	5.82|5.82	0.92795|0.92795	.|GAF (2);	.|0.273464	.|0.43110	.|D	.|0.000616	T|T	0.31796|0.31796	0.0808|0.0808	N|N	0.00637|0.00637	-1.305|-1.305	0.80722|0.80722	D|D	1|1	.|B;B	.|0.23591	.|0.088;0.081	.|B;B	.|0.28991	.|0.058;0.097	T|T	0.48234|0.48234	-0.9053|-0.9053	5|10	.|0.02654	.|T	.|1	.|.	18.8801|18.8801	0.92352|0.92352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|294;544	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	M|E	182|544;294;186;100;186	.|ENSP00000286063:Q544E;ENSP00000351232:Q294E;ENSP00000386539:Q186E;ENSP00000374333:Q100E;ENSP00000390599:Q186E	.|ENSP00000286063:Q544E	I|Q	-|-	3|1	3|0	PDE11A|PDE11A	178390845|178390845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	9.312000|9.312000	0.96287|0.96287	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	ATC|CAA	PDE11A	-	pfam_GAF,smart_GAF		0.373	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	G			178682599	-1	no_errors	ENST00000286063	ensembl	human	known	70_37	missense	SNP	1.000	C	C	178682599	G	C	178682599	3	2	180	1	0	0	0	0	1	0	0	0	11655	1299	45	1	1223	1	PDE11A	2	178682599	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3416790	178682599	64516774	56	33579										
TTN	7273	genome.wustl.edu	37	chr2	179427879	179427879	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgagcaaccactgagccaggTagagttgcaggttcacctac	11	11	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:179427879T>C	ENST00000591111.1	-	276	78281	c.78057A>G	c.(78055-78057)ctA>ctG	p.L26019L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.L18787L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.L25092L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.L18720L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.L27660L|TTN_ENST00000460472.2_Silent_p.L18595L|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26019	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGCCAGGTAGAGTTGCAG	0.453																																																	0													182	179	180					2																	179427879		1964	4163	6127	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78057A>G	2.37:g.179427879T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L25092	ENST00000591111.1	37	c.75276		2																																																																																			TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179427879	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.867	C	C	179427879	T	C	179427879	2	2	180	1	0	0	0	0	0	0	0	1	16766	1625	57	5		5	TTN	2	179427879	Silent	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	745280	179427879	63771494	57	33580										
TTN	7273	genome.wustl.edu	37	chr2	179486421	179486421	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cagttttatagtgtctgtttCactaacttcaatgttggcaa	7	7	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:179486421C>T	ENST00000591111.1	-	195	40431	c.40207G>A	c.(40207-40209)Gaa>Aaa	p.E13403K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6171K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12476K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6104K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15044K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5979K			Q8WZ42	TITIN_HUMAN	titin	13403	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCTGTTTCACTAACTTCA	0.363																																																	0													81	76	78					2																	179486421		1837	4086	5923	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40207G>A	2.37:g.179486421C>T	ENSP00000465570:p.Glu13403Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E12476K	ENST00000591111.1	37	c.37426		2	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557388	0.65425	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83552	0.5279	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.84146	0.0420	9	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	5979;6104;6171;13403	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	12476;5979;6171;6104;5979	ENSP00000343764:E12476K;ENSP00000434586:E5979K;ENSP00000340554:E6171K;ENSP00000352154:E6104K	ENSP00000340554:E6171K	E	-	1	0	TTN	179194666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179486421	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179486421	C	T	179486421	3	4	180	1	0	0	0	0	1	0	0	0	16766	835	29	1	63035	1	TTN	2	179486421	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	58542	179486421	63712952	58	33581										
ITGA4	3676	genome.wustl.edu	37	chr2	182400201	182400201	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acaaatctatcctacaagaaGaaaacagaagagacagttgg	8	7	1	4	rs201914045		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:182400201G>C	ENST00000397033.2	+	28	3476	c.3046G>C	c.(3046-3048)Gaa>Caa	p.E1016Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	1016					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CCTACAAGAAGAAAACAGAAG	0.328																																																	0													144	144	144					2																	182400201		1819	4077	5896	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.3046G>C	2.37:g.182400201G>C	ENSP00000380227:p.Glu1016Gln		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E1016Q	ENST00000397033.2	37	c.3046	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750237	0.49257	.	.	ENSG00000115232	ENST00000397033	T	0.66638	-0.22	5.45	5.45	0.79879	.	0.353763	0.35838	N	0.002943	T	0.53029	0.1771	L	0.52573	1.65	0.34116	D	0.663543	P	0.38788	0.647	B	0.31495	0.131	T	0.68055	-0.5510	10	0.56958	D	0.05	.	5.7549	0.18168	0.1589:0.1739:0.6673:0.0	.	1016	P13612	ITA4_HUMAN	Q	1016	ENSP00000380227:E1016Q	ENSP00000380227:E1016Q	E	+	1	0	ITGA4	182108446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.873000	0.39558	2.538000	0.85594	0.563000	0.77884	GAA	ITGA4	-	NULL		0.328	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	G			182400201	1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	C	C	182400201	G	C	182400201	3	2	180	1	0	0	0	0	1	0	0	0	7898	943	33	1	3156	1	ITGA4	2	182400201	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2913780	182400201	60799172	59	33582										
ANKAR	150709	genome.wustl.edu	37	chr2	190592600	190592600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agatgtgttgaaggctgtatCttctgctgcaattgctgagg	13	6	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:190592600C>G	ENST00000520309.1	+	13	2742	c.2654C>G	c.(2653-2655)tCt>tGt	p.S885C	ANKAR_ENST00000281412.6_Missense_Mutation_p.S660C|ANKAR_ENST00000438402.2_Missense_Mutation_p.S885C|ANKAR_ENST00000431575.2_Missense_Mutation_p.S814C|ANKAR_ENST00000313581.4_Missense_Mutation_p.S885C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	885						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGGCTGTATCTTCTGCTGCA	0.383																																																	0													86	88	87					2																	190592600		2203	4300	6503	SO:0001583	missense	150709			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2654C>G	2.37:g.190592600C>G	ENSP00000427882:p.Ser885Cys		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo	p.S885C	ENST00000520309.1	37	c.2654	CCDS33351.2	2	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298348	0.60195	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.43	5.43	0.79202	.	0.414762	0.21853	N	0.068160	T	0.46678	0.1405	L	0.50333	1.59	0.36835	D	0.887105	.	.	.	.	.	.	T	0.50915	-0.8771	8	0.87932	D	0	-9.3813	18.1694	0.89740	0.0:1.0:0.0:0.0	.	.	.	.	C	885;885;885;814;660	ENSP00000427882:S885C;ENSP00000313513:S885C;ENSP00000397243:S885C;ENSP00000393043:S814C;ENSP00000281412:S660C	ENSP00000281412:S660C	S	+	2	0	ANKAR	190300845	0.996000	0.38824	0.354000	0.25760	0.790000	0.44656	5.192000	0.65115	2.823000	0.97156	0.563000	0.77884	TCT	ANKAR	-	superfamily_ARM-type_fold,smart_Armadillo		0.383	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	C	NM_144708		190592600	1	no_errors	ENST00000313581	ensembl	human	known	70_37	missense	SNP	0.909	G	G	190592600	C	G	190592600	3	3	180	1	0	0	0	0	1	0	0	0	623	913	32	1	2700	1	ANKAR	2	190592600	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	8192399	190592600	52606773	60	33583										
NBEAL1	65065	genome.wustl.edu	37	chr2	204074025	204074025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttgttgtctactccagcactGaagaaaagaccaccctcaag	7	12	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:204074025G>A	ENST00000449802.1	+	52	8011	c.7678G>A	c.(7678-7680)Gaa>Aaa	p.E2560K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2560										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCCAGCACTGAAGAAAAGAC	0.423																																																	0													120	111	114					2																	204074025		1887	4118	6005	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7678G>A	2.37:g.204074025G>A	ENSP00000399903:p.Glu2560Lys		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2560K	ENST00000449802.1	37	c.7678	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862776	0.71949	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.53423	0.62;1.56	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.64997	1.995	0.58432	D	0.999999	B;D;D	0.76494	0.34;0.999;0.998	B;D;D	0.77557	0.108;0.967;0.99	T	0.57694	-0.7767	10	0.07644	T	0.81	.	18.4683	0.90763	0.0:0.0:1.0:0.0	.	1270;2560;2549	D1MPS9;Q6ZS30;C9JGK5	.;NBEL1_HUMAN;.	K	2560;2470;575	ENSP00000399903:E2560K;ENSP00000388466:E575K	ENSP00000344985:E2470K	E	+	1	0	NBEAL1	203782270	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.954000	0.93051	2.461000	0.83175	0.460000	0.39030	GAA	NBEAL1	-	superfamily_WD40_repeat_dom		0.423	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	G			204074025	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	A	A	204074025	G	A	204074025	3	1	180	1	0	0	0	0	1	0	0	0	10211	1291	45	1	7880	1	NBEAL1	2	204074025	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	13481425	204074025	39125348	61	33584										
CCDC108	255101	genome.wustl.edu	37	chr2	219870775	219870775	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tggcagggaaactctgagaaGaagttagccagaaagtagtc	13	6	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:219870775G>C	ENST00000341552.5	-	31	4973	c.4890C>G	c.(4888-4890)ttC>ttG	p.F1630L	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.F1630L|CCDC108_ENST00000441968.1_Missense_Mutation_p.F1630L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1630						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCTGAGAAGAAGTTAGCCA	0.607																																																	0													33	36	35					2																	219870775		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4890C>G	2.37:g.219870775G>C	ENSP00000340776:p.Phe1630Leu		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.F1630L	ENST00000341552.5	37	c.4890	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299382	0.81136	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07216	3.21;3.21;3.21	5.56	5.56	0.83823	.	0.146927	0.31909	N	0.006877	T	0.25195	0.0612	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.63381	0.914	T	0.00093	-1.2080	10	0.72032	D	0.01	-18.3519	16.4429	0.83907	0.0:0.0:1.0:0.0	.	1630	Q6ZU64	CC108_HUMAN	L	1630	ENSP00000340776:F1630L;ENSP00000413377:F1630L;ENSP00000409117:F1630L	ENSP00000340776:F1630L	F	-	3	2	CCDC108	219579019	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	3.298000	0.51818	2.616000	0.88540	0.655000	0.94253	TTC	CCDC108	-	NULL		0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	G	NM_194302		219870775	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	1.000	C	C	219870775	G	C	219870775	3	2	180	1	0	0	0	0	1	0	0	0	2748	933	33	1	907	1	CCDC108	2	219870775	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	15796750	219870775	23328598	62	33585										
ATG9A	79065	genome.wustl.edu	37	chr2	220088626	220088626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gagctgggcaaactcgtcccGggtctgcgagcggtgggcat	17	11	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:220088626G>A	ENST00000409618.1	-	9	1823	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	ATG9A_ENST00000409422.1_Missense_Mutation_p.R401W|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Missense_Mutation_p.R462W|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_Missense_Mutation_p.R462W			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	462					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACTCGTCCCGGGTCTGCGAG	0.612																																																	0													80	90	87					2																	220088626		2149	4265	6414	SO:0001583	missense	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1384C>T	2.37:g.220088626G>A	ENSP00000386710:p.Arg462Trp		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.R462W	ENST00000409618.1	37	c.1384	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419541	0.62622	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	T;T;T;T;T	0.41758	1.6;1.6;1.6;1.16;0.99	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79271	-0.1872	10	0.87932	D	0	-16.3011	15.5064	0.75745	0.0:0.0:0.8533:0.1467	.	462	Q7Z3C6	ATG9A_HUMAN	W	462;462;462;401;21	ENSP00000379983:R462W;ENSP00000386710:R462W;ENSP00000355173:R462W;ENSP00000386535:R401W;ENSP00000400234:R21W	ENSP00000355173:R462W	R	-	1	2	ATG9A	219796870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.064000	0.64338	2.682000	0.91365	0.585000	0.79938	CGG	ATG9A	-	pfam_Autophagy-rel_prot_9		0.612	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	G	NM_024085		220088626	-1	no_errors	ENST00000361242	ensembl	human	known	70_37	missense	SNP	1.000	A	A	220088626	G	A	220088626	3	1	180	1	0	0	0	0	1	0	0	0	1103	1115	39	2	1167	2	ATG9A	2	220088626	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	217851	220088626	23110747	63	33586										
PAX3	5077	genome.wustl.edu	37	chr2	223158986	223158986	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcctcctcttcacctttcccGaatttacttctcaggatgcg	5	15	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:223158986G>A	ENST00000350526.4	-	4	622	c.486C>T	c.(484-486)ttC>ttT	p.F162F	PAX3_ENST00000336840.6_Silent_p.F162F|PAX3_ENST00000392070.2_Silent_p.F162F|PAX3_ENST00000258387.5_Silent_p.F162F|PAX3_ENST00000344493.4_Silent_p.F162F|PAX3_ENST00000409551.3_Silent_p.F161F|PAX3_ENST00000409828.3_Silent_p.F162F|PAX3_ENST00000392069.2_Silent_p.F162F	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	162					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTTTCCCGAATTTACTTC	0.587			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													137	102	113					2																	223158986		2203	4300	6503	SO:0001819	synonymous_variant	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.486C>T	2.37:g.223158986G>A			G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.F162	ENST00000350526.4	37	c.486	CCDS42826.1	2																																																																																			PAX3	-	NULL		0.587	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	G			223158986	-1	no_errors	ENST00000392069	ensembl	human	known	70_37	silent	SNP	0.995	A	A	223158986	G	A	223158986	2	1	180	1	0	0	0	0	0	0	0	1	11504	1049	37	1		1	PAX3	2	223158986	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3070360	223158986	20040387	64	33587										
AGFG1	3267	genome.wustl.edu	37	chr2	228401373	228401373	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aacagtgccagtggttgcttCtgcacagacacagcctgctt	10	12	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:228401373C>G	ENST00000310078.8	+	9	1498	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	AGFG1_ENST00000409979.2_Missense_Mutation_p.S437C|AGFG1_ENST00000409315.1_Missense_Mutation_p.S392C|AGFG1_ENST00000373671.3_Missense_Mutation_p.S373C|AGFG1_ENST00000409171.1_Missense_Mutation_p.S413C	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	413					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GTGGTTGCTTCTGCACAGACA	0.363																																																	0													111	109	110					2																	228401373		2203	4300	6503	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1238C>G	2.37:g.228401373C>G	ENSP00000312059:p.Ser413Cys		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.S437C	ENST00000310078.8	37	c.1310	CCDS2467.1	2	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525254	0.44969	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.26810	1.76;1.75;1.74;1.71;1.76	5.57	5.57	0.84162	.	0.105276	0.64402	D	0.000004	T	0.16428	0.0395	N	0.08118	0	0.30438	N	0.776492	B;B;B;B	0.33448	0.164;0.115;0.412;0.102	B;B;B;B	0.36186	0.163;0.117;0.219;0.078	T	0.12630	-1.0540	10	0.62326	D	0.03	-10.1097	13.5449	0.61697	0.1553:0.8447:0.0:0.0	.	373;413;437;413	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	C	437;422;413;392;373;413	ENSP00000387282:S437C;ENSP00000312059:S413C;ENSP00000387154:S392C;ENSP00000362775:S373C;ENSP00000387218:S413C	ENSP00000312059:S413C	S	+	2	0	AGFG1	228109617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	2.623000	0.88846	0.591000	0.81541	TCT	AGFG1	-	NULL		0.363	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGFG1	HGNC	protein_coding	OTTHUMT00000256895.2	C	NM_004504		228401373	1	no_errors	ENST00000409979	ensembl	human	known	70_37	missense	SNP	1.000	G	G	228401373	C	G	228401373	3	3	180	1	0	0	0	0	1	0	0	0	380	913	32	1	1348	1	AGFG1	2	228401373	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	5242387	228401373	14798000	65	33588										
PDE6D	5147	genome.wustl.edu	37	chr2	232645809	232645809	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	caggatctccctggcccgctCgtccttggctgacatgatgc	11	15	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:232645809C>G	ENST00000287600.4	-	1	210	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	COPS7B_ENST00000409091.1_5'Flank|COPS7B_ENST00000409295.1_5'Flank|PDE6D_ENST00000409772.1_Missense_Mutation_p.E6Q|COPS7B_ENST00000410024.1_5'Flank|PDE6D_ENST00000477748.1_5'UTR	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	6					regulation of GTP catabolic process (GO:0033124)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|GTPase inhibitor activity (GO:0005095)|Rab GTPase binding (GO:0017137)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		CTGGCCCGCTCGTCCTTGGCT	0.701																																																	0													18	20	20					2																	232645809		2197	4287	6484	SO:0001583	missense	5147			AF045999	CCDS33398.1	2q35-q36	2014-04-28			ENSG00000156973	ENSG00000156973	3.1.4.17	"Phosphodiesterases"	8788	protein-coding gene	gene with protein product		602676				9533031, 9570951	Standard	NM_002601		Approved	JBTS22	uc002vse.1	O43924	OTTHUMG00000153785	ENST00000287600.4:c.16G>C	2.37:g.232645809C>G	ENSP00000287600:p.Glu6Gln		O43250	Missense_Mutation	SNP	pfam_GMP_PDE_delta,superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu	p.E6Q	ENST00000287600.4	37	c.16	CCDS33398.1	2	.	.	.	.	.	.	.	.	.	.	C	9.653	1.142175	0.21205	.	.	ENSG00000156973	ENST00000287600;ENST00000409772	.	.	.	4.48	3.6	0.41247	Immunoglobulin E-set (1);	0.058953	0.64402	D	0.000002	T	0.47655	0.1457	L	0.46157	1.445	0.47737	D	0.999506	P;B	0.50369	0.934;0.002	P;B	0.47603	0.551;0.001	T	0.34428	-0.9829	9	0.17369	T	0.5	-3.6564	10.5537	0.45103	0.0:0.9102:0.0:0.0898	.	6;6	B8ZZK5;O43924	.;PDE6D_HUMAN	Q	6	.	ENSP00000287600:E6Q	E	-	1	0	PDE6D	232354053	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	2.560000	0.45896	1.258000	0.44101	-0.698000	0.03680	GAG	PDE6D	-	superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu		0.701	PDE6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6D	HGNC	protein_coding	OTTHUMT00000332407.1	C			232645809	-1	no_errors	ENST00000287600	ensembl	human	known	70_37	missense	SNP	1.000	G	G	232645809	C	G	232645809	3	3	180	1	0	0	0	0	1	0	0	0	11672	893	31	1	456	1	PDE6D	2	232645809	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	4244436	232645809	10553564	66	33589										
COL6A3	1293	genome.wustl.edu	37	chr2	238275692	238275692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tagtgttggcgtgtcttcccCctttgtagaccactttgttg	10	10	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:238275692C>T	ENST00000295550.4	-	11	5590	c.5138G>A	c.(5137-5139)gGg>gAg	p.G1713E	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1507E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1513E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1512E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1507E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1106E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1713	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTGTCTTCCCCCTTTGTAGAC	0.542																																																	0													95	78	83					2																	238275692		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5138G>A	2.37:g.238275692C>T	ENSP00000295550:p.Gly1713Glu		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G1713E	ENST00000295550.4	37	c.5138	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810681	0.70797	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000034	D	0.90535	0.7034	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89653	0.3871	10	0.45353	T	0.12	.	19.5163	0.95167	0.0:1.0:0.0:0.0	.	1106;1507;1713	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	E	1713;1512;1507;1106;1507;1513	ENSP00000295550:G1713E;ENSP00000315609:G1512E;ENSP00000315873:G1507E;ENSP00000418285:G1106E;ENSP00000386844:G1507E;ENSP00000295546:G1513E	ENSP00000295550:G1713E	G	-	2	0	COL6A3	237940431	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	7.755000	0.85180	2.604000	0.88044	0.650000	0.86243	GGG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238275692	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	T	T	238275692	C	T	238275692	3	4	180	1	0	0	0	0	1	0	0	0	3706	623	22	4	4531	4	COL6A3	2	238275692	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	5629883	238275692	4923681	67	33590										
RNPEPL1	57140	genome.wustl.edu	37	chr2	241517259	241517259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aggccctgctgcttggggacGaggcccccagcagtgccatc	14	15	0	0	rs570330123		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr2:241517259G>A	ENST00000270357.4	+	11	2028	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	479					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GCTTGGGGACGAGGCCCCCAG	0.647													G|||	1	0.000199681	0	0	5008	,	,		18531	0		0	False		,,,				2504	0.001																0													32	28	29					2																	241517259		2203	4300	6503	SO:0001583	missense	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1435G>A	2.37:g.241517259G>A	ENSP00000270357:p.Glu479Lys		Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.E479K	ENST00000270357.4	37	c.1435		2	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858664	0.32791	.	.	ENSG00000142327	ENST00000270357;ENST00000437406	T;T	0.45276	3.54;0.9	4.11	4.11	0.48088	.	0.382568	0.21067	U	0.080721	T	0.24661	0.0598	N	0.17082	0.46	0.31852	N	0.622132	B;B	0.17667	0.023;0.0	B;B	0.06405	0.002;0.0	T	0.15435	-1.0437	10	0.39692	T	0.17	-3.1573	7.8504	0.29451	0.1169:0.0:0.8831:0.0	.	385;479	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	K	479;232	ENSP00000270357:E479K;ENSP00000403319:E232K	ENSP00000270357:E479K	E	+	1	0	RNPEPL1	241165932	1.000000	0.71417	0.708000	0.30435	0.736000	0.42039	3.678000	0.54627	1.844000	0.53588	0.460000	0.39030	GAG	RNPEPL1	-	NULL		0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	G	NM_018226		241517259	1	no_errors	ENST00000270357	ensembl	human	known	70_37	missense	SNP	0.815	A	A	241517259	G	A	241517259	3	1	180	1	0	0	0	0	1	0	0	0	13540	1059	37	1	1469	1	RNPEPL1	2	241517259	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3241567	241517259	1682114	68	33591										
C3orf32	51066	genome.wustl.edu	37	chr3	8675369	8675369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	caccctgcagagggtctgccGcttcagctcctggatgacga	12	14	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:8675369G>A	ENST00000317371.4	-	11	1481	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SSUH2_ENST00000341795.3_Missense_Mutation_p.R86W|SSUH2_ENST00000544814.1_Missense_Mutation_p.R108W|SSUH2_ENST00000415132.1_Missense_Mutation_p.R86W			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	86						cytoplasm (GO:0005737)											AGGGTCTGCCGCTTCAGCTCC	0.672																																																	0													13	14	14					3																	8675369		2184	4281	6465	SO:0001583	missense	51066			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.256C>T	3.37:g.8675369G>A	ENSP00000324551:p.Arg86Trp		A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	superfamily_HSP_DnaJ_Cys-rich_dom	p.R108W	ENST00000317371.4	37	c.322	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825601	0.32237	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.45276	0.91;0.91;0.9;0.92;0.92	5.0	5.0	0.66597	.	0.273133	0.37053	N	0.002275	T	0.21307	0.0513	N	0.14661	0.345	0.09310	N	0.999991	B;P	0.43392	0.309;0.805	B;B	0.24269	0.019;0.052	T	0.27020	-1.0086	10	0.62326	D	0.03	-20.6842	13.8152	0.63287	0.0:0.0:1.0:0.0	.	108;86	F5H2S5;Q9Y2M2	.;CC032_HUMAN	W	86;86;86;108;108	ENSP00000339150:R86W;ENSP00000324551:R86W;ENSP00000410757:R86W;ENSP00000439378:R108W;ENSP00000401289:R108W	ENSP00000324551:R86W	R	-	1	2	C3orf32	8650369	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	4.380000	0.59581	2.319000	0.78375	0.484000	0.47621	CGG	SSUH2	-	NULL		0.672	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	HGNC	protein_coding	OTTHUMT00000337900.1	G	NM_015931		8675369	-1	no_errors	ENST00000544814	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8675369	G	A	8675369	3	1	180	1	0	0	0	0	1	0	0	0	2227	1086	38	2	841	2	C3orf32	3	8675369	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		8675369	189347061	69	33592										
NUP210	23225	genome.wustl.edu	37	chr3	13381483	13381483	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agcgcaacgctctcattgctGatggagaaaaggatgttgga	13	7	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:13381483G>A	ENST00000254508.5	-	25	3424	c.3342C>T	c.(3340-3342)atC>atT	p.I1114I	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1114					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTCATTGCTGATGGAGAAAA	0.652																																																	0													102	112	108					3																	13381483		2203	4300	6503	SO:0001819	synonymous_variant	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3342C>T	3.37:g.13381483G>A			A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.I1114	ENST00000254508.5	37	c.3342	CCDS33704.1	3																																																																																			NUP210	-	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2		0.652	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	G	NM_024923		13381483	-1	no_errors	ENST00000254508	ensembl	human	known	70_37	silent	SNP	1.000	A	A	13381483	G	A	13381483	2	1	180	1	0	0	0	0	0	0	0	1	10784	1280	45	1		1	NUP210	3	13381483	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4706114	13381483	184640947	70	33593										
NKTR	4820	genome.wustl.edu	37	chr3	42687388	42687388	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttgttattacaggagttgtaGatcttatggctctgacagtg	11	5	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:42687388G>C	ENST00000232978.8	+	17	4498	c.4310G>C	c.(4309-4311)aGa>aCa	p.R1437T	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1437					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGGAGTTGTAGATCTTATGGC	0.358																																																	0													60	61	61					3																	42687388		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4310G>C	3.37:g.42687388G>C	ENSP00000232978:p.Arg1437Thr			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R1437T	ENST00000232978.8	37	c.4310	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620359	0.66787	.	.	ENSG00000114857	ENST00000232978	T	0.18502	2.21	5.85	5.85	0.93711	.	0.050522	0.64402	D	0.000001	T	0.44456	0.1294	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.22800	-1.0206	10	0.87932	D	0	-13.2491	20.1634	0.98142	0.0:0.0:1.0:0.0	.	1137;1437	Q6M1B8;P30414	.;NKTR_HUMAN	T	1437	ENSP00000232978:R1437T	ENSP00000232978:R1437T	R	+	2	0	NKTR	42662392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.116000	0.77119	2.773000	0.95371	0.655000	0.94253	AGA	NKTR	-	NULL		0.358	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42687388	1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42687388	G	C	42687388	3	2	180	1	0	0	0	0	1	0	0	0	10472	942	33	1	4372	1	NKTR	3	42687388	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	29305905	42687388	155335042	71	33594										
DAG1	1605	genome.wustl.edu	37	chr3	49569062	49569062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cacggtcaccatccggactcGaggcgccattattcaaaccc	8	16	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:49569062G>A	ENST00000539901.1	+	3	1676	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	DAG1_ENST00000308775.2_Missense_Mutation_p.R373Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R373Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R373Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R373Q|DAG1_ENST00000545947.1_Missense_Mutation_p.R373Q	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	373	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ATCCGGACTCGAGGCGCCATT	0.597																																																	0													98	102	100					3																	49569062		2203	4300	6503	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1118G>A	3.37:g.49569062G>A	ENSP00000439334:p.Arg373Gln		A8K6M7|Q969J9	Missense_Mutation	SNP	pfam_DAG1,superfamily_Cadherin-like,smart_Cadg	p.R373Q	ENST00000539901.1	37	c.1118	CCDS2799.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219583	0.79464	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.65	5.65	0.86999	.	0.054481	0.64402	D	0.000002	T	0.63189	0.2490	M	0.63428	1.95	0.49130	D	0.99975	D	0.76494	0.999	D	0.75484	0.986	T	0.60052	-0.7338	9	.	.	.	-5.8956	18.4838	0.90821	0.0:0.0:1.0:0.0	.	373	Q14118	DAG1_HUMAN	Q	373	ENSP00000440705:R373Q;ENSP00000312435:R373Q;ENSP00000442600:R373Q;ENSP00000440590:R373Q;ENSP00000439334:R373Q;ENSP00000438421:R373Q	.	R	+	2	0	DAG1	49544066	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	6.762000	0.74950	2.655000	0.90218	0.591000	0.81541	CGA	DAG1	-	NULL		0.597	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	G			49569062	1	no_errors	ENST00000308775	ensembl	human	known	70_37	missense	SNP	0.989	A	A	49569062	G	A	49569062	3	1	180	1	0	0	0	0	1	0	0	0	4230	1058	37	1	1124	1	DAG1	3	49569062	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	6881674	49569062	148453368	72	33595										
IP6K1	9807	genome.wustl.edu	37	chr3	49765613	49765613	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	catctgccgggctgccttctCagctgacgcgtcatcgccat	10	16	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:49765613C>T	ENST00000321599.4	-	5	1016	c.715G>A	c.(715-717)Gag>Aag	p.E239K	IP6K1_ENST00000395238.1_Missense_Mutation_p.E74K|IP6K1_ENST00000468463.1_Missense_Mutation_p.E239K|IP6K1_ENST00000460540.1_Missense_Mutation_p.E74K	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	239					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCTGCCTTCTCAGCTGACGCG	0.612																																																	0													115	99	104					3																	49765613		2203	4300	6503	SO:0001583	missense	9807			D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"inositol hexaphosphate kinase 1"	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.715G>A	3.37:g.49765613C>T	ENSP00000323780:p.Glu239Lys		A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	pfam_IPK	p.E239K	ENST00000321599.4	37	c.715	CCDS33760.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.571804	0.96553	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000468463;ENST00000460540	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.992;0.992	T	0.03463	-1.1034	10	0.27082	T	0.32	-24.0161	14.485	0.67611	0.0:0.9293:0.0:0.0707	.	239;239	C9JNA8;Q92551	.;IP6K1_HUMAN	K	239;74;239;74	ENSP00000323780:E239K;ENSP00000378659:E74K;ENSP00000420467:E239K;ENSP00000420762:E74K	ENSP00000323780:E239K	E	-	1	0	IP6K1	49740617	1.000000	0.71417	0.885000	0.34714	0.952000	0.60782	7.818000	0.86416	1.348000	0.45733	0.655000	0.94253	GAG	IP6K1	-	pfam_IPK		0.612	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K1	HGNC	protein_coding	OTTHUMT00000350380.1	C	NM_153273		49765613	-1	no_errors	ENST00000321599	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49765613	C	T	49765613	3	4	180	1	0	0	0	0	1	0	0	0	7808	835	29	1	618	1	IP6K1	3	49765613	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	196551	49765613	148256817	73	33596										
PDE12	201626	genome.wustl.edu	37	chr3	57542130	57542130	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tggaggctcccaggcgcccgCgccgcgcttcgggtgatccg	16	16	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:57542130C>A	ENST00000311180.8	+	1	127	c.24C>A	c.(22-24)cgC>cgA	p.R8R	PDE12_ENST00000487257.1_Silent_p.R8R	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	8					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CAGGCGCCCGCGCCGCGCTTC	0.706																																					Colon(125;308 1634 19198 50622 50717)												0													7	10	9					3																	57542130		2168	4249	6417	SO:0001819	synonymous_variant	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.24C>A	3.37:g.57542130C>A			B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R8	ENST00000311180.8	37	c.24	CCDS33772.1	3																																																																																			PDE12	-	NULL		0.706	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	C	NM_177966		57542130	1	no_errors	ENST00000311180	ensembl	human	known	70_37	silent	SNP	0.996	A	A	57542130	C	A	57542130	2	1	180	1	0	0	0	0	0	0	0	1	11656	755	27	2		2	PDE12	3	57542130	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	7776517	57542130	140480300	74	33597										
DZIP3	9666	genome.wustl.edu	37	chr3	108366903	108366903	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agtttgcagaaattaataaaGatgggacctcaatacccagt	8	7	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:108366903G>T	ENST00000361582.3	+	16	2136	c.1906G>T	c.(1906-1908)Gat>Tat	p.D636Y	DZIP3_ENST00000463306.1_Missense_Mutation_p.D636Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	636					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D636H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AATTAATAAAGATGGGACCTC	0.358																																																	1	Substitution - Missense(1)	breast(1)											102	109	106					3																	108366903		2203	4299	6502	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1906G>T	3.37:g.108366903G>T	ENSP00000355028:p.Asp636Tyr		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D636Y	ENST00000361582.3	37	c.1906	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009642	0.35415	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.33438	1.41;1.41;1.41	5.25	4.33	0.51752	.	0.339361	0.25622	N	0.029406	T	0.38799	0.1054	L	0.36672	1.1	0.29801	N	0.832447	B;D;P	0.58620	0.392;0.983;0.769	B;P;B	0.58331	0.311;0.837;0.311	T	0.21793	-1.0235	10	0.87932	D	0	-9.2749	11.9031	0.52694	0.0:0.1745:0.8255:0.0	.	254;636;636	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	Y	636	ENSP00000355028:D636Y;ENSP00000418115:D636Y;ENSP00000419981:D636Y	ENSP00000355028:D636Y	D	+	1	0	DZIP3	109849593	1.000000	0.71417	0.998000	0.56505	0.452000	0.32318	2.735000	0.47377	2.730000	0.93505	0.644000	0.83932	GAT	DZIP3	-	NULL		0.358	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	G	NM_014648		108366903	1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	0.999	T	T	108366903	G	T	108366903	3	4	180	1	0	0	0	0	1	0	0	0	4875	942	33	3	1964	3	DZIP3	3	108366903	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	50824773	108366903	89655527	75	33598										
ARHGAP31	57514	genome.wustl.edu	37	chr3	119133187	119133187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cctgctttcaaagggcggccCggaaagagaagactcatcca	11	12	2	2	rs34762342		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:119133187C>T	ENST00000264245.4	+	12	2943	c.2411C>T	c.(2410-2412)cCg>cTg	p.P804L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	804					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AAGGGCGGCCCGGAAAGAGAA	0.562																																					Pancreas(7;176 297 5394 51128 51241)												0													55	56	56					3																	119133187		1886	4105	5991	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2411C>T	3.37:g.119133187C>T	ENSP00000264245:p.Pro804Leu		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P804L	ENST00000264245.4	37	c.2411	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008664	0.54361	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08458	3.09	5.3	2.46	0.29980	.	0.000000	0.64402	D	0.000015	T	0.05868	0.0153	L	0.32530	0.975	0.09310	N	0.999993	B	0.22211	0.066	B	0.12837	0.008	T	0.30937	-0.9961	10	0.87932	D	0	.	4.1273	0.10133	0.1728:0.5809:0.0:0.2463	.	804	Q2M1Z3	RHG31_HUMAN	L	804	ENSP00000264245:P804L	ENSP00000264245:P804L	P	+	2	0	ARHGAP31	120615877	0.000000	0.05858	0.018000	0.16275	0.001000	0.01503	0.209000	0.17435	0.796000	0.33947	-0.181000	0.13052	CCG	ARHGAP31	-	NULL		0.562	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	C			119133187	1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	0.012	T	T	119133187	C	T	119133187	3	4	180	1	0	0	0	0	1	0	0	0	880	652	23	2	2457	2	ARHGAP31	3	119133187	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	10766284	119133187	78889243	76	33599										
PDIA5	10954	genome.wustl.edu	37	chr3	122865005	122865005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aaggccctggcagaaagattCcacatctcagagtttcctac	8	12	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:122865005C>T	ENST00000316218.7	+	13	1136	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	347	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGAAAGATTCCACATCTCAG	0.488																																																	0													157	164	162					3																	122865005		2203	4300	6503	SO:0001819	synonymous_variant	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1041C>T	3.37:g.122865005C>T			D3DN95|Q9BV43	Silent	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.F347	ENST00000316218.7	37	c.1041	CCDS3020.1	3																																																																																			PDIA5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.488	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	C	NM_006810		122865005	1	no_errors	ENST00000316218	ensembl	human	known	70_37	silent	SNP	1.000	T	T	122865005	C	T	122865005	2	4	180	1	0	0	0	0	0	0	0	1	11695	854	30	1		1	PDIA5	3	122865005	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3731818	122865005	75157425	77	33600										
SLC9A9	285195	genome.wustl.edu	37	chr3	143082369	143082369	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tctgaagagccgagcactctCtgctttcgtcatgtttttat	8	10	3	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:143082369C>G	ENST00000316549.6	-	14	1769	c.1561G>C	c.(1561-1563)Gag>Cag	p.E521Q		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	521					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CGAGCACTCTCTGCTTTCGTC	0.363																																																	0													149	142	144					3																	143082369		2203	4300	6503	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1561G>C	3.37:g.143082369C>G	ENSP00000320246:p.Glu521Gln		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E521Q	ENST00000316549.6	37	c.1561	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502089	0.64298	.	.	ENSG00000181804	ENST00000316549	T	0.32023	1.47	5.71	5.71	0.89125	.	0.144351	0.47455	D	0.000238	T	0.46502	0.1396	M	0.85462	2.755	0.54753	D	0.999981	B	0.29531	0.247	B	0.35931	0.214	T	0.41770	-0.9490	10	0.29301	T	0.29	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	521	Q8IVB4	SL9A9_HUMAN	Q	521	ENSP00000320246:E521Q	ENSP00000320246:E521Q	E	-	1	0	SLC9A9	144565059	1.000000	0.71417	0.947000	0.38551	0.339000	0.28857	5.506000	0.66993	2.709000	0.92574	0.655000	0.94253	GAG	SLC9A9	-	prints_Na/H_exchanger_6,tigrfam_NaH_exchanger		0.363	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	C	NM_173653		143082369	-1	no_errors	ENST00000316549	ensembl	human	known	70_37	missense	SNP	0.998	G	G	143082369	C	G	143082369	3	3	180	1	0	0	0	0	1	0	0	0	14751	922	32	1	388	1	SLC9A9	3	143082369	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	20217364	143082369	54940061	78	33601										
LIPH	200879	genome.wustl.edu	37	chr3	185229347	185229347	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agggaccttaacttcattcgGagaatcctgagcttgtacct	9	10	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr3:185229347G>C	ENST00000296252.4	-	9	1374	c.1233C>G	c.(1231-1233)ctC>ctG	p.L411L	LIPH_ENST00000424591.2_Silent_p.L377L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	411					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACTTCATTCGGAGAATCCTGA	0.453																																																	0													114	110	111					3																	185229347		2203	4300	6503	SO:0001819	synonymous_variant	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1233C>G	3.37:g.185229347G>C			A2IBA7|Q8TEC7	Silent	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.L411	ENST00000296252.4	37	c.1233	CCDS3272.1	3																																																																																			LIPH	-	superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH		0.453	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	G			185229347	-1	no_errors	ENST00000296252	ensembl	human	known	70_37	silent	SNP	0.883	C	C	185229347	G	C	185229347	2	2	180	1	0	0	0	0	0	0	0	1	8845	1161	41	1		1	LIPH	3	185229347	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	42146978	185229347	12793083	79	33602										
GAK	2580	genome.wustl.edu	37	chr4	887749	887749	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcgaagtttcgctccatcctCaaaagggtgctgccggaagc	11	12	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:887749C>T	ENST00000314167.4	-	8	900	c.790G>A	c.(790-792)Gag>Aag	p.E264K	GAK_ENST00000511163.1_Missense_Mutation_p.E185K	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCTCCATCCTCAAAAGGGTGC	0.617																																																	0													87	59	68					4																	887749		2202	4295	6497	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.790G>A	4.37:g.887749C>T	ENSP00000314499:p.Glu264Lys		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.E264K	ENST00000314167.4	37	c.790	CCDS3340.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.950079	0.97139	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.64803	-0.12;-0.12	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049985	0.85682	D	0.000000	T	0.69833	0.3155	L	0.31207	0.915	0.80722	D	1	D;P;D;D	0.89917	1.0;0.898;1.0;1.0	D;D;D;D	0.97110	1.0;0.914;1.0;1.0	T	0.73711	-0.3897	10	0.72032	D	0.01	-30.5413	15.7059	0.77580	0.0:1.0:0.0:0.0	.	185;185;264;160	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	K	264;185	ENSP00000314499:E264K;ENSP00000421361:E185K	ENSP00000314499:E264K	E	-	1	0	GAK	877749	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.158000	0.64917	2.291000	0.77112	0.563000	0.77884	GAG	GAK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.617	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	C	NM_005255		887749	-1	no_errors	ENST00000314167	ensembl	human	known	70_37	missense	SNP	1.000	T	T	887749	C	T	887749	3	4	180	1	0	0	0	0	1	0	0	0	6214	835	29	1	3229	1	GAK	4	887749	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		887749	190266527	80	33603										
SLIT2	9353	genome.wustl.edu	37	chr4	20620402	20620402	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cttttctagaaatctcttgtCgaggggaaaggataagagat	11	5	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:20620402C>G	ENST00000504154.1	+	37	4612	c.4360C>G	c.(4360-4362)Cga>Gga	p.R1454G	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1467G|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1450G|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1446G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1454	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATCTCTTGTCGAGGGGAAAG	0.433																																																	0													89	94	92					4																	20620402		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4360C>G	4.37:g.20620402C>G	ENSP00000422591:p.Arg1454Gly		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1454G	ENST00000504154.1	37	c.4360	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	C	14.27	2.483856	0.44147	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80994	-1.43;-1.44;-1.35;-1.41	6.07	6.07	0.98685	Cystine knot, C-terminal (1);	0.197974	0.45606	D	0.000356	D	0.82591	0.5070	M	0.74258	2.255	0.80722	D	1	B;B	0.21905	0.018;0.062	B;B	0.24269	0.052;0.019	T	0.76790	-0.2829	10	0.38643	T	0.18	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1446;1454	O94813-3;O94813	.;SLIT2_HUMAN	G	1446;1454;1467;1450;1450	ENSP00000427548:R1446G;ENSP00000422591:R1454G;ENSP00000273739:R1467G;ENSP00000422261:R1450G	ENSP00000273739:R1467G	R	+	1	2	SLIT2	20229500	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.738000	0.62073	2.884000	0.98904	0.655000	0.94253	CGA	SLIT2	-	pfscan_Cys_knot_C		0.433	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20620402	1	no_errors	ENST00000504154	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20620402	C	G	20620402	3	3	180	1	0	0	0	0	1	0	0	0	14770	876	31	1	4506	1	SLIT2	4	20620402	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	19732653	20620402	170533874	81	33604										
LIMCH1	22998	genome.wustl.edu	37	chr4	41683071	41683071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccatgactgaaggcagtgggAcaatggtgagaccacagatt	13	8	0	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:41683071A>G	ENST00000313860.7	+	20	2614	c.2560A>G	c.(2560-2562)Aca>Gca	p.T854A	LIMCH1_ENST00000508501.1_Missense_Mutation_p.T853A|LIMCH1_ENST00000503057.1_Missense_Mutation_p.T1238A|LIMCH1_ENST00000512632.1_Missense_Mutation_p.T777A|LIMCH1_ENST00000512820.1_Missense_Mutation_p.T866A|LIMCH1_ENST00000381753.4_Missense_Mutation_p.T687A|LIMCH1_ENST00000513024.1_Missense_Mutation_p.T707A|LIMCH1_ENST00000509277.1_Missense_Mutation_p.T687A|LIMCH1_ENST00000396595.3_Missense_Mutation_p.T699A|LIMCH1_ENST00000514096.1_Missense_Mutation_p.T694A|LIMCH1_ENST00000511496.1_Missense_Mutation_p.T694A|LIMCH1_ENST00000512946.1_Missense_Mutation_p.T854A	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	854					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGGCAGTGGGACAATGGTGAG	0.428																																																	0													121	111	114					4																	41683071		2203	4300	6503	SO:0001583	missense	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2560A>G	4.37:g.41683071A>G	ENSP00000316891:p.Thr854Ala		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.T1238A	ENST00000313860.7	37	c.3712	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	A	9.257	1.042242	0.19748	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.78;1.35;1.36;1.4;0.67;1.29;0.82;0.75;0.75;0.69;0.76;0.76	5.92	0.165	0.14995	.	0.595355	0.18534	N	0.138417	T	0.35158	0.0922	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B	0.23249	0.007;0.0;0.001;0.001;0.002;0.002;0.082;0.0;0.001;0.004;0.007;0.0	B;B;B;B;B;B;B;B;B;B;B;B	0.28553	0.004;0.003;0.003;0.003;0.014;0.009;0.091;0.004;0.003;0.004;0.014;0.001	T	0.27157	-1.0082	10	0.45353	T	0.12	-3.1968	6.9935	0.24767	0.6619:0.1229:0.2152:0.0	.	694;604;687;777;687;699;1238;707;866;853;854;854	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	A	707;853;854;854;777;866;1238;694;1237;694;687;699;687;206	ENSP00000425222:T707A;ENSP00000424825:T853A;ENSP00000424645:T854A;ENSP00000316891:T854A;ENSP00000427045:T777A;ENSP00000424437:T866A;ENSP00000425631:T1238A;ENSP00000421242:T694A;ENSP00000426334:T694A;ENSP00000422864:T687A;ENSP00000379840:T699A;ENSP00000371172:T687A	ENSP00000316891:T854A	T	+	1	0	LIMCH1	41377828	0.844000	0.29557	0.004000	0.12327	0.003000	0.03518	0.982000	0.29539	0.124000	0.18369	-0.917000	0.02746	ACA	LIMCH1	-	NULL		0.428	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	A	NM_014988		41683071	1	no_errors	ENST00000503057	ensembl	human	known	70_37	missense	SNP	0.046	G	G	41683071	A	G	41683071	3	3	180	1	0	0	0	0	1	0	0	0	8817	275	10	5	2666	5	LIMCH1	4	41683071	Missense_Mutation	SNP	A	TCGA-Q1-A5R2-01A-11D-A28B-09	21062669	41683071	149471205	82	33605										
INTS12	57117	genome.wustl.edu	37	chr4	106604362	106604362	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttgaactcaattttgctgttGaaggaccagcagaggaagtt	11	6	1	3	rs4069		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:106604362G>C	ENST00000451321.2	-	7	1396	c.917C>G	c.(916-918)tCa>tGa	p.S306*	INTS12_ENST00000340139.5_Nonsense_Mutation_p.S306*|INTS12_ENST00000394735.1_Nonsense_Mutation_p.S306*	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	306	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTTGCTGTTGAAGGACCAGC	0.453																																																	0													93	95	94					4																	106604362		2203	4300	6503	SO:0001587	stop_gained	57117				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"Zinc fingers, PHD-type"	25067	protein-coding gene	gene with protein product	"hypothetical nuclear factor SBBI22"	611355	"PHD finger protein 22"	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.917C>G	4.37:g.106604362G>C	ENSP00000415433:p.Ser306*		B2RC48|Q3B6Z3|Q9HD71	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S306*	ENST00000451321.2	37	c.917	CCDS3671.1	4	.	.	.	.	.	.	.	.	.	.	G	41	8.565810	0.98866	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	.	.	.	5.49	5.49	0.81192	.	0.204128	0.42964	D	0.000623	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-13.2033	12.6901	0.56970	0.0756:0.0:0.9244:0.0	.	.	.	.	X	306	.	ENSP00000340737:S306X	S	-	2	0	INTS12	106823811	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.037000	0.76531	2.579000	0.87056	0.591000	0.81541	TCA	INTS12	-	NULL		0.453	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	INTS12	HGNC	protein_coding	OTTHUMT00000318624.1	G	NM_020395		106604362	-1	no_errors	ENST00000340139	ensembl	human	known	70_37	nonsense	SNP	0.998	C	C	106604362	G	C	106604362	4	2	180	1	0	0	0	0	0	1	0	0	7797	1294	45	1	475	1	INTS12	4	106604362	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	64921291	106604362	84549914	83	33606										
AP1AR	55435	genome.wustl.edu	37	chr4	113184201	113184201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aagctttatacgctgcacagCgtgaagcagccagggcagca	12	11	0	1	rs562537794		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:113184201C>T	ENST00000274000.5	+	6	695	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	AP1AR_ENST00000309703.6_Intron	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	114	Interaction with AP1G1.				cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						CGCTGCACAGCGTGAAGCAGC	0.428																																																	0													64	72	69					4																	113184201		2203	4300	6503	SO:0001583	missense	55435			AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"gamma1-adaptin brefeldin A resistance"	610851	"chromosome 4 open reading frame 16"	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.340C>T	4.37:g.113184201C>T	ENSP00000274000:p.Arg114Cys		B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	NULL	p.R114C	ENST00000274000.5	37	c.340	CCDS3696.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.062250	0.93846	.	.	ENSG00000138660	ENST00000274000	T	0.62105	0.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.79897	-0.1609	10	0.87932	D	0	-6.1015	19.5	0.95090	0.0:1.0:0.0:0.0	.	114;114	B2RCV7;Q63HQ0	.;AP1AR_HUMAN	C	114	ENSP00000274000:R114C	ENSP00000274000:R114C	R	+	1	0	AP1AR	113403650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.194000	0.77789	2.605000	0.88082	0.561000	0.74099	CGT	AP1AR	-	NULL		0.428	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1AR	HGNC	protein_coding	OTTHUMT00000256323.2	C	NM_018569		113184201	1	no_errors	ENST00000274000	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113184201	C	T	113184201	3	4	180	1	0	0	0	0	1	0	0	0	730	768	27	2	362	2	AP1AR	4	113184201	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	6579839	113184201	77970075	84	33607										
QRFPR	84109	genome.wustl.edu	37	chr4	122301714	122301714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgtagacgagcggtcgcagcCggtacagagcgatgaactgc	15	10	0	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:122301714C>T	ENST00000394427.2	-	1	500	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	QRFPR_ENST00000334383.5_Missense_Mutation_p.R30Q	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	30					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CGGTCGCAGCCGGTACAGAGC	0.647																																																	0													19	22	21					4																	122301714		2203	4300	6503	SO:0001583	missense	84109			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.89G>A	4.37:g.122301714C>T	ENSP00000377948:p.Arg30Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.R30Q	ENST00000394427.2	37	c.89	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	c	10.64	1.407374	0.25378	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.71341	-0.56;-0.39	4.91	3.19	0.36642	.	1.408380	0.04536	N	0.387289	T	0.50650	0.1628	N	0.08118	0	0.09310	N	0.99999	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.35919	-0.9769	10	0.13470	T	0.59	.	8.2861	0.31930	0.0:0.7547:0.0:0.2453	.	30;30;30	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	Q	30	ENSP00000377948:R30Q;ENSP00000335610:R30Q	ENSP00000335610:R30Q	R	-	2	0	QRFPR	122521164	0.415000	0.25416	0.374000	0.26016	0.760000	0.43138	2.106000	0.41835	0.476000	0.27440	-0.349000	0.07799	CGG	QRFPR	-	NULL		0.647	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	C	NM_198179		122301714	-1	no_errors	ENST00000394427	ensembl	human	known	70_37	missense	SNP	0.930	T	T	122301714	C	T	122301714	3	4	180	1	0	0	0	0	1	0	0	0	12908	652	23	2	1230	2	QRFPR	4	122301714	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	9117513	122301714	68852562	85	33608										
IL15	3600	genome.wustl.edu	37	chr4	142653915	142653915	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	taacagaatctggatgcaaaGaatgtgaggaactggaggaa	13	4	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:142653915G>C	ENST00000296545.7	+	8	1247	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	IL15_ENST00000529613.1_Missense_Mutation_p.E135Q|IL15_ENST00000320650.4_Missense_Mutation_p.E135Q|IL15_ENST00000514653.1_Missense_Mutation_p.E108Q|IL15_ENST00000477265.1_Missense_Mutation_p.E108Q|IL15_ENST00000394159.1_Missense_Mutation_p.E108Q			P40933	IL15_HUMAN	interleukin 15	135					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TGGATGCAAAGAATGTGAGGA	0.289																																					Pancreas(10;184 986 25902)												0													76	88	84					4																	142653915		2203	4298	6501	SO:0001583	missense	3600			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"Interleukins and interleukin receptors"	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.403G>C	4.37:g.142653915G>C	ENSP00000296545:p.Glu135Gln		D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15	p.E135Q	ENST00000296545.7	37	c.403	CCDS3755.1	4	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287173	0.59867	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.77	1.94	0.25998	.	0.398629	0.24669	N	0.036575	T	0.50205	0.1602	M	0.78916	2.43	0.35304	D	0.783278	B	0.17667	0.023	B	0.12837	0.008	T	0.51236	-0.8731	9	0.42905	T	0.14	-5.8094	2.073	0.03618	0.1699:0.1985:0.4821:0.1494	.	135	P40933	IL15_HUMAN	Q	135;135;108;135;108;108	.	ENSP00000296545:E135Q	E	+	1	0	IL15	142873365	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.653000	0.24902	0.369000	0.24510	0.650000	0.86243	GAA	IL15	-	pfam_Interleukin_15-like,prints_Interleukin-15		0.289	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL15	HGNC	protein_coding	OTTHUMT00000257278.2	G	NM_172175		142653915	1	no_errors	ENST00000296545	ensembl	human	known	70_37	missense	SNP	1.000	C	C	142653915	G	C	142653915	3	2	180	1	0	0	0	0	1	0	0	0	7651	943	33	1	425	1	IL15	4	142653915	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	20352201	142653915	48500361	86	33609										
TRIML2	205860	genome.wustl.edu	37	chr4	189022246	189022246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aacatctcctctagctcggtGgcaagcttgatcgcttgatt	9	11	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:189022246G>A	ENST00000512729.1	-	3	668	c.294C>T	c.(292-294)gcC>gcT	p.A98A	TRIML2_ENST00000536972.1_Silent_p.A148A|TRIML2_ENST00000326754.3_Silent_p.A98A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	98					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTAGCTCGGTGGCAAGCTTGA	0.413																																																	0													125	118	120					4																	189022246		2203	4300	6503	SO:0001819	synonymous_variant	205860			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.294C>T	4.37:g.189022246G>A			B7Z6J6	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.A98	ENST00000512729.1	37	c.294	CCDS3850.1	4																																																																																			TRIML2	-	NULL		0.413	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	G	NM_173553		189022246	-1	no_errors	ENST00000512729	ensembl	human	known	70_37	silent	SNP	0.000	A	A	189022246	G	A	189022246	2	1	180	1	0	0	0	0	0	0	0	1	16582	1335	47	4		4	TRIML2	4	189022246	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	46368331	189022246	2132030	87	33610										
TRIML2	205860	genome.wustl.edu	37	chr4	189022289	189022289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaagggtttctctcaggttcAagtcagatatgcattcctgc	10	9	4	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr4:189022289A>G	ENST00000512729.1	-	3	625	c.251T>C	c.(250-252)tTg>tCg	p.L84S	TRIML2_ENST00000536972.1_Missense_Mutation_p.L134S|TRIML2_ENST00000326754.3_Missense_Mutation_p.L84S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	84					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCTCAGGTTCAAGTCAGATAT	0.423																																																	0													151	141	144					4																	189022289		2203	4300	6503	SO:0001583	missense	205860			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.251T>C	4.37:g.189022289A>G	ENSP00000422581:p.Leu84Ser		B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.L84S	ENST00000512729.1	37	c.251	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906734	0.52333	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.60424	3.58;0.19;3.51	5.23	-7.92	0.01160	.	1.216040	0.06458	N	0.728986	T	0.39572	0.1083	L	0.46157	1.445	0.09310	N	1	B;B;B	0.29909	0.121;0.261;0.261	B;B;B	0.24155	0.035;0.051;0.051	T	0.41413	-0.9510	10	0.87932	D	0	.	2.6516	0.05001	0.2048:0.1256:0.4234:0.2462	.	134;84;84	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	S	84;84;134	ENSP00000422581:L84S;ENSP00000317498:L84S;ENSP00000441236:L134S	ENSP00000317498:L84S	L	-	2	0	TRIML2	189259283	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.603000	0.05674	-1.074000	0.03132	0.533000	0.62120	TTG	TRIML2	-	NULL		0.423	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	A	NM_173553		189022289	-1	no_errors	ENST00000512729	ensembl	human	known	70_37	missense	SNP	0.000	G	G	189022289	A	G	189022289	3	3	180	1	0	0	0	0	1	0	0	0	16582	131	5	5	932	5	TRIML2	4	189022289	Missense_Mutation	SNP	A	TCGA-Q1-A5R2-01A-11D-A28B-09	43	189022289	2131987	88	33611										
IRX1	79192	genome.wustl.edu	37	chr5	3599746	3599746	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gagatcgacctggaaagcatCgacattgacaagatcgacga	11	9	0	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:3599746C>T	ENST00000302006.3	+	2	736	c.684C>T	c.(682-684)atC>atT	p.I228I	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	228					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGAAAGCATCGACATTGACA	0.642																																																	0													66	61	62					5																	3599746		2203	4300	6503	SO:0001819	synonymous_variant	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.684C>T	5.37:g.3599746C>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.I228	ENST00000302006.3	37	c.684	CCDS34132.1	5																																																																																			IRX1	-	NULL		0.642	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	C	NM_024337		3599746	1	no_errors	ENST00000302006	ensembl	human	known	70_37	silent	SNP	0.990	T	T	3599746	C	T	3599746	2	4	180	1	0	0	0	0	0	0	0	1	7863	874	31	1		1	IRX1	5	3599746	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		3599746	177315514	89	33612										
GPR98	84059	genome.wustl.edu	37	chr5	90016875	90016875	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tctgaaacagcctttggcatGagtatgtttcatttcttatg	8	7	3	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:90016875G>A	ENST00000405460.2	+	45	9843	c.9747G>A	c.(9745-9747)atG>atA	p.M3249I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3249					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTTTGGCATGAGTATGTTTC	0.328																																																	0													133	128	130					5																	90016875		1888	4120	6008	SO:0001630	splice_region_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9748+1G>A	5.37:g.90016875G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.M3249I	ENST00000405460.2	37	c.9747	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358881	0.24598	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.25749	1.78	5.85	4.08	0.47627	.	0.214682	0.56097	D	0.000025	T	0.19366	0.0465	L	0.46157	1.445	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.07347	-1.0777	10	0.24483	T	0.36	.	6.0227	0.19638	0.2222:0.2384:0.5393:0.0	.	3249;3249	E7ETI5;Q8WXG9	.;GPR98_HUMAN	I	3249	ENSP00000384582:M3249I	ENSP00000296619:M3249I	M	+	3	0	GPR98	90052631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.732000	0.38146	0.822000	0.34565	0.650000	0.86243	ATG	GPR98	-	NULL		0.328	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119	Missense_Mutation	90016875	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90016875	G	A	90016875	5	1	180	1	0	0	0	0	0	0	1	0	6741	1304	45	1	9925	1	GPR98	5	90016875	Splice_Site	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	86417129	90016875	90898385	90	33613										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720894	140720894	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcatcagccaggagagctgtGagaaaaaggattttttatca	10	6	3	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:140720894G>C	ENST00000394576.2	+	1	2356	c.2356G>C	c.(2356-2358)Gag>Cag	p.E786Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	786					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAGCTGTGAGAAAAAGGA	0.483																																																	0													87	95	92					5																	140720894		2203	4300	6503	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2356G>C	5.37:g.140720894G>C	ENSP00000378077:p.Glu786Gln		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E786Q	ENST00000394576.2	37	c.2356	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	15.59	2.878983	0.51801	.	.	ENSG00000081853	ENST00000394576	T	0.47869	0.83	4.86	4.86	0.63082	.	0.194996	0.23779	U	0.044660	T	0.66386	0.2784	M	0.81179	2.53	0.09310	N	1	P;B	0.49090	0.919;0.377	P;B	0.60609	0.877;0.091	T	0.59752	-0.7395	10	0.41790	T	0.15	.	13.841	0.63439	0.0:0.1988:0.8012:0.0	.	786;786	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	786	ENSP00000378077:E786Q	ENSP00000378077:E786Q	E	+	1	0	PCDHGA2	140701078	0.008000	0.16893	1.000000	0.80357	0.914000	0.54420	0.890000	0.28295	2.536000	0.85505	0.491000	0.48974	GAG	PCDHGA2	-	NULL		0.483	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140720894	1	no_errors	ENST00000394576	ensembl	human	known	70_37	missense	SNP	0.340	C	C	140720894	G	C	140720894	3	2	180	1	0	0	0	0	1	0	0	0	11578	1291	45	1	2358	1	PCDHGA2	5	140720894	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	50704019	140720894	40194366	91	33614										
TCERG1	10915	genome.wustl.edu	37	chr5	145862183	145862183	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ataataaagacattgactcaGagaaagaagctgccatggaa	9	6	1	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:145862183G>A	ENST00000296702.5	+	13	1953	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	TCERG1_ENST00000394421.2_Missense_Mutation_p.E618K	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	639					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTGACTCAGAGAAAGAAGC	0.368																																																	0													47	48	47					5																	145862183		2202	4300	6502	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1915G>A	5.37:g.145862183G>A	ENSP00000296702:p.Glu639Lys		Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.E639K	ENST00000296702.5	37	c.1915	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939137	0.34189	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.63255	-0.03;1.74	5.95	5.95	0.96441	.	0.140648	0.64402	D	0.000005	T	0.70168	0.3193	M	0.65975	2.015	0.80722	D	1	P;P	0.51791	0.916;0.948	P;P	0.50109	0.631;0.533	T	0.64470	-0.6400	10	0.21540	T	0.41	-10.5645	20.3719	0.98893	0.0:0.0:1.0:0.0	.	618;639	O14776-2;O14776	.;TCRG1_HUMAN	K	639;618	ENSP00000296702:E639K;ENSP00000377943:E618K	ENSP00000296702:E639K	E	+	1	0	TCERG1	145842376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.826000	0.97356	0.491000	0.48974	GAG	TCERG1	-	NULL		0.368	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	G	NM_001040006		145862183	1	no_errors	ENST00000296702	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145862183	G	A	145862183	3	1	180	1	0	0	0	0	1	0	0	0	15715	943	33	1	1965	1	TCERG1	5	145862183	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	5141289	145862183	35053077	92	33615										
STK32A	202374	genome.wustl.edu	37	chr5	146703593	146703593	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctcttcatctgtgagctggtCatggccctggactacctgca	10	13	4	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:146703593C>A	ENST00000397936.3	+	5	726	c.393C>A	c.(391-393)gtC>gtA	p.V131V	STK32A_ENST00000398521.3_Silent_p.V131V|STK32A_ENST00000541094.1_Silent_p.V131V|STK32A_ENST00000398523.3_Silent_p.V131V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCTGGTCATGGCCCTGG	0.532																																																	0													57	60	59					5																	146703593		2141	4281	6422	SO:0001819	synonymous_variant	202374				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.393C>A	5.37:g.146703593C>A			B3KSY0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V131	ENST00000397936.3	37	c.393	CCDS47299.1	5																																																																																			STK32A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.532	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32A	HGNC	protein_coding	OTTHUMT00000373306.1	C	NM_145001		146703593	1	no_errors	ENST00000397936	ensembl	human	known	70_37	silent	SNP	1.000	A	A	146703593	C	A	146703593	2	1	180	1	0	0	0	0	0	0	0	1	15327	813	29	3		3	STK32A	5	146703593	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	841410	146703593	34211667	93	33616										
RGS14	10636	genome.wustl.edu	37	chr5	176798942	176798942	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agaggggccttctgaggaaaGaggacctggtacttccagaa	14	8	1	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:176798942G>C	ENST00000408923.3	+	15	1755	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	523					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGGAAAGAGGACCTGGT	0.662																																					NSCLC(47;353 1896 28036)												0													86	104	98					5																	176798942		1960	4142	6102	SO:0001583	missense	10636			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1567G>C	5.37:g.176798942G>C	ENSP00000386229:p.Glu523Gln		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E523Q	ENST00000408923.3	37	c.1567	CCDS43405.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.278207|4.278207	0.80692|0.80692	.|.	.|.	ENSG00000169220|ENSG00000169220	ENST00000408923;ENST00000336477|ENST00000511890	T|T	0.55052|0.63096	0.54|-0.02	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.286495|.	0.37053|.	N|.	0.002274|.	T|T	0.65026|0.65026	0.2652|0.2652	L|L	0.34521|0.34521	1.04|1.04	0.44492|0.44492	D|D	0.997431|0.997431	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.997;0.998;0.994|.	T|T	0.68953|0.68953	-0.5273|-0.5273	10|7	0.72032|0.87932	D|D	0.01|0	-29.0251|-29.0251	16.3702|16.3702	0.83355|0.83355	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	294;371;523|.	B3KUX0;O43566-5;O43566|.	.;.;RGS14_HUMAN|.	Q|N	523;304|393	ENSP00000386229:E523Q|ENSP00000422329:K393N	ENSP00000336864:E304Q|ENSP00000422329:K393N	E|K	+|+	1|3	0|2	RGS14|RGS14	176731548|176731548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	5.835000|5.835000	0.69368|0.69368	2.537000|2.537000	0.85549|0.85549	0.644000|0.644000	0.83932|0.83932	GAG|AAG	RGS14	-	NULL		0.662	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	G	NM_006480		176798942	1	no_errors	ENST00000408923	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176798942	G	C	176798942	3	2	180	1	0	0	0	0	1	0	0	0	13327	943	33	1	1625	1	RGS14	5	176798942	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	30095349	176798942	4116318	94	33617										
DDX41	51428	genome.wustl.edu	37	chr5	176939844	176939844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	caggtactcgtggatggcgtCcacgtctgccttcttctctg	11	13	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr5:176939844C>T	ENST00000507955.1	-	13	1859	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000357198.4_5'Flank|DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	446	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGATGGCGTCCACGTCTGCC	0.617																																																	0													148	124	132					5																	176939844		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1336G>A	5.37:g.176939844C>T	ENSP00000422753:p.Asp446Asn		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D446N	ENST00000507955.1	37	c.1336	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.713904	0.96830	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.93659	-3.26;-3.26	5.91	5.91	0.95273	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.95814	0.8844	10	0.87932	D	0	-29.168	20.2857	0.98533	0.0:1.0:0.0:0.0	.	320;446	B3KRK2;Q9UJV9	.;DDX41_HUMAN	N	464;446	ENSP00000330349:D464N;ENSP00000422753:D446N	ENSP00000330349:D464N	D	-	1	0	DDX41	176872450	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.736000	0.84948	2.803000	0.96430	0.650000	0.86243	GAC	DDX41	-	smart_Helicase_C,pfscan_Helicase_C		0.617	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	C	NM_016222		176939844	-1	no_errors	ENST00000507955	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176939844	C	T	176939844	3	4	180	1	0	0	0	0	1	0	0	0	4366	855	30	1	552	1	DDX41	5	176939844	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	140902	176939844	3975416	95	33618										
TUBB2A	7280	genome.wustl.edu	37	chr6	3154874	3154874	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tccaccagctggtggacagaGagggtggcgttgtagggctc	17	9	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:3154874G>A	ENST00000333628.3	-	4	623	c.561C>T	c.(559-561)ctC>ctT	p.L187L	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	187					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GGTGGACAGAGAGGGTGGCGT	0.562																																																	0													181	94	123					6																	3154874		2203	4299	6502	SO:0001819	synonymous_variant	7280			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"Tubulins"	12412	protein-coding gene	gene with protein product	"class IIa beta-tubulin"	615101	"tubulin, beta polypeptide", "tubulin, beta 2", "tubulin, beta 2A"	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.561C>T	6.37:g.3154874G>A			Q6FGZ8|Q8IWR2	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.L187	ENST00000333628.3	37	c.561	CCDS4484.1	6																																																																																			TUBB2A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin		0.562	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	HGNC	protein_coding	OTTHUMT00000039662.1	G	NM_001069		3154874	-1	no_errors	ENST00000333628	ensembl	human	known	70_37	silent	SNP	0.065	A	A	3154874	G	A	3154874	2	1	180	1	0	0	0	0	0	0	0	1	16785	929	33	1		1	TUBB2A	6	3154874	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		3154874	167960193	96	33619										
PECI	10455	genome.wustl.edu	37	chr6	4128056	4128056	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tttaagtgcacgcataatttCatgatacatctgtgtaatgg	8	6	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:4128056C>G	ENST00000380118.3	-	5	547	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	ECI2_ENST00000361538.2_Missense_Mutation_p.E141Q|ECI2_ENST00000413766.2_Missense_Mutation_p.E4Q|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.E141Q|ECI2_ENST00000465828.1_Missense_Mutation_p.E141Q|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	171	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CGCATAATTTCATGATACATC	0.378																																																	0													126	128	127					6																	4128056		2203	4300	6503	SO:0001583	missense	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.511G>C	6.37:g.4128056C>G	ENSP00000369461:p.Glu171Gln		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.E171Q	ENST00000380118.3	37	c.511	CCDS43420.2	6	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219820	0.58560	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;0.7	5.86	5.86	0.93980	Crotonase, core (1);	0.397452	0.31897	N	0.006896	T	0.78323	0.4265	M	0.76727	2.345	0.58432	D	0.999997	P	0.48089	0.905	P	0.47891	0.56	T	0.77270	-0.2650	10	0.36615	T	0.2	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	171	O75521	ECI2_HUMAN	Q	171;141;4;141;141;218	ENSP00000369461:E171Q;ENSP00000369468:E141Q;ENSP00000406969:E4Q;ENSP00000354737:E141Q;ENSP00000420309:E141Q;ENSP00000417459:E218Q	ENSP00000354737:E141Q	E	-	1	0	ECI2	4073055	1.000000	0.71417	0.116000	0.21606	0.301000	0.27625	6.454000	0.73493	2.776000	0.95493	0.655000	0.94253	GAA	ECI2	-	pfam_Crotonase_core		0.378	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	C	NM_006117		4128056	-1	no_errors	ENST00000380118	ensembl	human	known	70_37	missense	SNP	0.997	G	G	4128056	C	G	4128056	3	3	180	1	0	0	0	0	1	0	0	0	11740	835	29	1	697	1	PECI	6	4128056	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	973182	4128056	166987011	97	33620										
JARID2	3720	genome.wustl.edu	37	chr6	15468829	15468829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaagctctcaggatgaggagGaagtcgaggaggaagatgat	17	4	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:15468829G>A	ENST00000341776.2	+	5	794	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	JARID2_ENST00000541660.1_Missense_Mutation_p.E146K|JARID2_ENST00000397311.3_Missense_Mutation_p.E12K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	184					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGATGAGGAGGAAGTCGAGGA	0.493																																																	0													133	113	120					6																	15468829		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.550G>A	6.37:g.15468829G>A	ENSP00000341280:p.Glu184Lys		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.E184K	ENST00000341776.2	37	c.550	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059559	0.76074	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.35236	1.32;1.32;1.32	4.94	4.94	0.65067	.	0.255650	0.38381	N	0.001707	T	0.08537	0.0212	N	0.03608	-0.345	0.37615	D	0.921098	P;B;B	0.35272	0.493;0.418;0.181	B;B;B	0.27380	0.079;0.058;0.022	T	0.08827	-1.0703	10	0.30078	T	0.28	-7.7626	17.8437	0.88722	0.0:0.0:1.0:0.0	.	146;48;184	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	K	48;184;12;146	ENSP00000341280:E184K;ENSP00000380478:E12K;ENSP00000444623:E146K	ENSP00000341280:E184K	E	+	1	0	JARID2	15576808	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	8.403000	0.90208	2.292000	0.77174	0.650000	0.86243	GAA	JARID2	-	NULL		0.493	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	G	NM_004973		15468829	1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15468829	G	A	15468829	3	1	180	1	0	0	0	0	1	0	0	0	7965	1175	41	1	568	1	JARID2	6	15468829	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	11340773	15468829	155646238	98	33621										
TRIM38	10475	genome.wustl.edu	37	chr6	25972171	25972171	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgtttcctacatgaggaagaGaagtcttatctctggaggct	11	7	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:25972171G>A	ENST00000357085.3	+	5	1058	c.582G>A	c.(580-582)gaG>gaA	p.E194E	TRIM38_ENST00000349458.3_Silent_p.E194E	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	194					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						ATGAGGAAGAGAAGTCTTATC	0.443																																																	0													70	71	70					6																	25972171		2203	4300	6503	SO:0001819	synonymous_variant	10475			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.582G>A	6.37:g.25972171G>A			B2R862	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E194	ENST00000357085.3	37	c.582	CCDS4568.1	6																																																																																			TRIM38	-	NULL		0.443	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM38	HGNC	protein_coding	OTTHUMT00000040076.2	G			25972171	1	no_errors	ENST00000349458	ensembl	human	known	70_37	silent	SNP	0.977	A	A	25972171	G	A	25972171	2	1	180	1	0	0	0	0	0	0	0	1	16543	933	33	1		1	TRIM38	6	25972171	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	10503342	25972171	145142896	99	33622										
NOTCH4	4855	genome.wustl.edu	37	chr6	32178591	32178591	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gttctggcaaggcctggactCacatgggttcacgtgatcct	12	11	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:32178591C>T	ENST00000375023.3	-	18	2941	c.2803G>A	c.(2803-2805)Gag>Aag	p.E935K	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	935	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCTGGACTCACATGGGTTC	0.622																																																	0													75	74	74					6																	32178591		1510	2707	4217	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2803G>A	6.37:g.32178591C>T	ENSP00000364163:p.Glu935Lys		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.E935K	ENST00000375023.3	37	c.2803	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515946	0.27123	.	.	ENSG00000204301	ENST00000375023	D	0.88354	-2.37	4.9	2.07	0.26955	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.842298	0.10118	N	0.713845	T	0.57740	0.2074	N	0.26092	0.79	0.09310	N	0.999998	P	0.39424	0.673	B	0.37267	0.245	T	0.54754	-0.8246	10	0.08837	T	0.75	.	2.0253	0.03517	0.1602:0.5075:0.1557:0.1766	.	935	Q99466	NOTC4_HUMAN	K	935	ENSP00000364163:E935K	ENSP00000364163:E935K	E	-	1	0	NOTCH4	32286569	0.000000	0.05858	0.537000	0.28052	0.994000	0.84299	-0.315000	0.08081	0.233000	0.21120	0.563000	0.77884	GAG	NOTCH4	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32178591	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	0.046	T	T	32178591	C	T	32178591	3	4	180	1	0	0	0	0	1	0	0	0	10575	835	29	1	3260	1	NOTCH4	6	32178591	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	6206420	32178591	138936476	100	33623										
XPO5	57510	genome.wustl.edu	37	chr6	43534910	43534910	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgaagtggtaacttacttttCtgctgactgcaatgagaaga	10	6	1	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:43534910C>T	ENST00000265351.7	-	7	1040	c.830G>A	c.(829-831)aGa>aAa	p.R277K		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	277					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ACTTACTTTTCTGCTGACTGC	0.413																																																	0													54	51	52					6																	43534910		1929	4123	6052	SO:0001583	missense	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.830G>A	6.37:g.43534910C>T	ENSP00000265351:p.Arg277Lys		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R277K	ENST00000265351.7	37	c.830	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540421	0.85917	.	.	ENSG00000124571	ENST00000265351	T	0.66995	-0.24	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	L	0.49571	1.57	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.69778	-0.5053	10	0.40728	T	0.16	-16.6517	20.5827	0.99408	0.0:1.0:0.0:0.0	.	277	Q9HAV4	XPO5_HUMAN	K	277	ENSP00000265351:R277K	ENSP00000265351:R277K	R	-	2	0	XPO5	43642888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.708000	0.84633	2.941000	0.99782	0.655000	0.94253	AGA	XPO5	-	superfamily_ARM-type_fold		0.413	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	C	NM_020750		43534910	-1	no_errors	ENST00000265351	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43534910	C	T	43534910	3	4	180	1	0	0	0	0	1	0	0	0	17478	913	32	1	2888	1	XPO5	6	43534910	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	11356319	43534910	127580157	101	33624										
BAI3	577	genome.wustl.edu	37	chr6	70037774	70037774	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaacaaaaggatatggcactGatcactagtaagtccatcca	8	9	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:70037774G>A	ENST00000370598.1	+	22	3849	c.3028G>A	c.(3028-3030)Gat>Aat	p.D1010N	BAI3_ENST00000238918.8_Missense_Mutation_p.D216N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1010					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATATGGCACTGATCACTAGTA	0.393																																																	0													135	111	119					6																	70037774		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3028G>A	6.37:g.70037774G>A	ENSP00000359630:p.Asp1010Asn		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.D1010N	ENST00000370598.1	37	c.3028	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110537	0.37242	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.35605	1.3;1.3	5.75	5.75	0.90469	GPCR, family 2-like (1);	0.108692	0.64402	D	0.000009	T	0.09423	0.0232	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.19935	0.04;0.04;0.009	B;B;B	0.25614	0.062;0.038;0.032	T	0.10590	-1.0623	10	0.34782	T	0.22	.	9.7818	0.40653	0.073:0.1412:0.7859:0.0	.	216;1010;1010	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	N	1010;216	ENSP00000359630:D1010N;ENSP00000238918:D216N	ENSP00000238918:D216N	D	+	1	0	BAI3	70094495	0.823000	0.29233	0.999000	0.59377	0.988000	0.76386	1.765000	0.38481	2.721000	0.93114	0.655000	0.94253	GAT	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib		0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			70037774	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	0.988	A	A	70037774	G	A	70037774	3	1	180	1	0	0	0	0	1	0	0	0	1301	1290	45	1	3106	1	BAI3	6	70037774	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	26502864	70037774	101077293	102	33625										
RARS2	57038	genome.wustl.edu	37	chr6	88265133	88265133	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggtgcaccctcacctgaattCaaccacaatcttcttctggg	7	14	5	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:88265133C>T	ENST00000369536.5	-	5	433	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	130					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CACCTGAATTCAACCACAATC	0.378																																																	0													101	97	99					6																	88265133		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.388G>A	6.37:g.88265133C>T	ENSP00000358549:p.Glu130Lys		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.E130K	ENST00000369536.5	37	c.388	CCDS5011.1	6	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872323	0.91587	.	.	ENSG00000146282	ENST00000369536;ENST00000369523	T	0.70869	-0.52	5.7	5.7	0.88788	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88004	0.2758	10	0.72032	D	0.01	.	18.5923	0.91218	0.0:1.0:0.0:0.0	.	130	Q5T160	SYRM_HUMAN	K	130;157	ENSP00000358549:E130K	ENSP00000358536:E157K	E	-	1	0	RARS2	88321852	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.322000	0.65852	2.680000	0.91292	0.591000	0.81541	GAA	RARS2	-	pfam_Arg-tRNA-synth_Ia_core,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia		0.378	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88265133	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88265133	C	T	88265133	3	4	180	1	0	0	0	0	1	0	0	0	13089	835	29	1	1412	1	RARS2	6	88265133	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	18227359	88265133	82849934	103	33626										
RARS2	57038	genome.wustl.edu	37	chr6	88265183	88265183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agaaaagttcactttttaatCcatattttgagccatcttca	4	8	3	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:88265183C>T	ENST00000369536.5	-	5	383	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	113					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACTTTTTAATCCATATTTTGA	0.343																																																	0													110	107	108					6																	88265183		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.338G>A	6.37:g.88265183C>T	ENSP00000358549:p.Gly113Glu		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.G113E	ENST00000369536.5	37	c.338	CCDS5011.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.423689|4.423689	0.83559|0.83559	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000451155|ENST00000369536;ENST00000369523	.|D	.|0.95756	.|-3.8	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Arginyl tRNA synthetase, class Ia, N-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98463|0.98463	0.9488|0.9488	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.99376|0.99376	1.0921|1.0921	5|10	.|0.87932	.|D	.|0	.|.	18.5727|18.5727	0.91142|0.91142	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|113	.|Q5T160	.|SYRM_HUMAN	N|E	141|113;140	.|ENSP00000358549:G113E	.|ENSP00000358536:G140E	D|G	-|-	1|2	0|0	RARS2|RARS2	88321902|88321902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.319000|5.319000	0.65835|0.65835	2.676000|2.676000	0.91093|0.91093	0.586000|0.586000	0.80456|0.80456	GAT|GGA	RARS2	-	superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia		0.343	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88265183	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88265183	C	T	88265183	3	4	180	1	0	0	0	0	1	0	0	0	13089	855	30	1	1462	1	RARS2	6	88265183	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	50	88265183	82849884	104	33627										
ROS1	6098	genome.wustl.edu	37	chr6	117650503	117650503	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cacacataccttatctcaagGatatagtatgtaattctaca	4	9	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:117650503G>A	ENST00000368508.3	-	32	5553	c.5355C>T	c.(5353-5355)atC>atT	p.I1785I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.I1779I	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1785	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTATCTCAAGGATATAGTATG	0.308			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													139	138	139					6																	117650503		2202	4299	6501	SO:0001819	synonymous_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5355C>T	6.37:g.117650503G>A			Q15368|Q5TDB5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I1785	ENST00000368508.3	37	c.5355	CCDS5116.1	6																																																																																			ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.308	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	G			117650503	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	silent	SNP	0.998	A	A	117650503	G	A	117650503	2	1	180	1	0	0	0	0	0	0	0	1	13561	1164	41	1		1	ROS1	6	117650503	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	29385320	117650503	53464564	105	33628										
LATS1	9113	genome.wustl.edu	37	chr6	150016267	150016267	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgcagccatctgctctcgtcGaggatcttggtaactcattt	9	11	4	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr6:150016267G>A	ENST00000543571.1	-	3	986	c.439C>T	c.(439-441)Cga>Tga	p.R147*	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.R147*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.R147*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGCTCTCGTCGAGGATCTTGG	0.368																																																	0													155	160	158					6																	150016267		2203	4300	6503	SO:0001587	stop_gained	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.439C>T	6.37:g.150016267G>A	ENSP00000437550:p.Arg147*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.R147*	ENST00000543571.1	37	c.439	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.826993	0.96996	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	.	.	.	5.43	4.56	0.56223	.	0.000000	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3606	0.38192	0.0721:0.0:0.7827:0.1451	.	.	.	.	X	147;147;147;93	.	.	R	-	1	2	LATS1	150057960	1.000000	0.71417	0.977000	0.42913	0.676000	0.39594	3.132000	0.50523	1.409000	0.46915	0.557000	0.71058	CGA	LATS1	-	NULL		0.368	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150016267	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	nonsense	SNP	0.786	A	A	150016267	G	A	150016267	4	1	180	1	0	0	0	0	0	1	0	0	8666	1066	37	1	2977	1	LATS1	6	150016267	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	32365764	150016267	21098800	106	33629										
INTS1	26173	genome.wustl.edu	37	chr7	1535091	1535091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtgcacgtagtccttaggggCgagcttgctgatggagggga	18	7	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:1535091C>T	ENST00000404767.3	-	13	1895	c.1810G>A	c.(1810-1812)Gcc>Acc	p.A604T	INTS1_ENST00000389470.4_Missense_Mutation_p.A732T	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	604					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTTAGGGGCGAGCTTGCTG	0.662																																																	0													40	46	44					7																	1535091		2040	4179	6219	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1810G>A	7.37:g.1535091C>T	ENSP00000385722:p.Ala604Thr		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.A732T	ENST00000404767.3	37	c.2194	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	c	6.517	0.463579	0.12402	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.42513	0.97;0.97	4.79	0.837	0.18896	.	0.264534	0.37136	N	0.002231	T	0.11793	0.0287	N	0.01048	-1.04	0.24609	N	0.993734	B	0.06786	0.001	B	0.04013	0.001	T	0.25916	-1.0118	10	0.18710	T	0.47	.	5.3565	0.16063	0.4075:0.4452:0.0:0.1473	.	604	Q8N201	INT1_HUMAN	T	604;732	ENSP00000385722:A604T;ENSP00000374121:A732T	ENSP00000374121:A732T	A	-	1	0	INTS1	1501617	0.979000	0.34478	0.116000	0.21606	0.888000	0.51559	2.444000	0.44890	-0.142000	0.11354	-1.032000	0.02404	GCC	INTS1	-	NULL		0.662	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	C			1535091	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	0.519	T	T	1535091	C	T	1535091	3	4	180	1	0	0	0	0	1	0	0	0	7795	768	27	2	4906	2	INTS1	7	1535091	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		1535091	157603572	107	33630										
ABCB5	340273	genome.wustl.edu	37	chr7	20766758	20766758	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaagagatgcttcagactcaAcacaggtgattatagattca	9	7	3	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:20766758A>C	ENST00000404938.2	+	22	3373	c.2721A>C	c.(2719-2721)caA>caC	p.Q907H	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q462H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	907	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGACTCAACACAGGTGAT	0.358																																																	0													98	103	101					7																	20766758		2203	4300	6503	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2721A>C	7.37:g.20766758A>C	ENSP00000384881:p.Gln907His		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.Q462H	ENST00000404938.2	37	c.1386	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	A	14.94	2.684938	0.47991	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.80033	-1.33;-1.33	4.43	-1.25	0.09405	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.107759	0.39909	N	0.001237	T	0.79173	0.4401	L	0.32530	0.975	0.29928	N	0.822147	D;D;D	0.57571	0.979;0.959;0.98	P;P;D	0.63033	0.871;0.871;0.91	T	0.75331	-0.3355	10	0.59425	D	0.04	.	9.1603	0.37019	0.6267:0.0:0.3733:0.0	.	907;85;462	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	H	907;462	ENSP00000384881:Q907H;ENSP00000258738:Q462H	ENSP00000258738:Q462H	Q	+	3	2	ABCB5	20733283	0.414000	0.25408	0.960000	0.40013	0.734000	0.41952	-0.692000	0.05127	-0.225000	0.09913	-0.274000	0.10170	CAA	ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.358	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	A	NM_178559		20766758	1	no_errors	ENST00000258738	ensembl	human	known	70_37	missense	SNP	0.969	C	C	20766758	A	C	20766758	3	2	180	1	0	0	0	0	1	0	0	0	44	40	2	5	2844	5	ABCB5	7	20766758	Missense_Mutation	SNP	A	TCGA-Q1-A5R2-01A-11D-A28B-09	19231667	20766758	138371905	108	33631										
BMPER	168667	genome.wustl.edu	37	chr7	34125571	34125571	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	atgagttctgcaacagacctCagagaaagccagtgcctgaa	10	10	2	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:34125571C>T	ENST00000297161.2	+	14	1986	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*	BMPER_ENST00000426693.1_Nonsense_Mutation_p.Q538*	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	538	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAACAGACCTCAGAGAAAGCC	0.483																																																	0													153	142	146					7																	34125571		2203	4300	6503	SO:0001587	stop_gained	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1612C>T	7.37:g.34125571C>T	ENSP00000297161:p.Gln538*		A8K1P8|Q8TF36	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.Q538*	ENST00000297161.2	37	c.1612	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	C	43	9.950904	0.99303	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	.	.	.	6.08	5.19	0.71726	.	0.401484	0.30714	N	0.009028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	16.8393	0.85964	0.1297:0.8703:0.0:0.0	.	.	.	.	X	538	.	ENSP00000297161:Q538X	Q	+	1	0	BMPER	34092096	0.734000	0.28142	0.717000	0.30585	0.986000	0.74619	2.880000	0.48530	1.573000	0.49748	0.655000	0.94253	CAG	BMPER	-	NULL		0.483	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	C	NM_133468		34125571	1	no_errors	ENST00000297161	ensembl	human	known	70_37	nonsense	SNP	0.958	T	T	34125571	C	T	34125571	4	4	180	1	0	0	0	0	0	1	0	0	1469	827	29	1	1662	1	BMPER	7	34125571	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	13358813	34125571	125013092	109	33632										
PGAM2	5224	genome.wustl.edu	37	chr7	44104528	44104528	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggaacaatctcctcgttccaGaagggcagggcccgggcaat	13	12	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:44104528G>A	ENST00000297283.3	-	2	555	c.498C>T	c.(496-498)ttC>ttT	p.F166F	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	166					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CCTCGTTCCAGAAGGGCAGGG	0.647																																																	0													40	41	41					7																	44104528		2202	4300	6502	SO:0001819	synonymous_variant	5224				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.498C>T	7.37:g.44104528G>A				Silent	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.F166	ENST00000297283.3	37	c.498	CCDS34624.1	7																																																																																			PGAM2	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1		0.647	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM2	HGNC	protein_coding	OTTHUMT00000339614.1	G			44104528	-1	no_errors	ENST00000297283	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44104528	G	A	44104528	2	1	180	1	0	0	0	0	0	0	0	1	11798	933	33	1		1	PGAM2	7	44104528	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	9978957	44104528	115034135	110	33633										
SUMF2	5260	genome.wustl.edu	37	chr7	56147257	56147257	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gattcagcctcagacaacctCggtttccgctgtgctgcaga	10	13	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:56147257C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000275607.9_Silent_p.L198L|SUMF2_ENST00000342190.6_Missense_Mutation_p.S257L|SUMF2_ENST00000413756.1_Missense_Mutation_p.R326W|SUMF2_ENST00000437307.2_Silent_p.L217L|SUMF2_ENST00000395435.2_Silent_p.L221L|SUMF2_ENST00000434526.2_Silent_p.L305L|SUMF2_ENST00000395436.2_Silent_p.L290L	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGACAACCTCGGTTTCCGCT	0.587											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(184;580 2064 5329 24177 35303)												0													117	113	115					7																	56147257		2203	4300	6503	SO:0001628	intergenic_variant	25870			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56147257C>T		1013	B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.S257L	ENST00000297373.2	37	c.770	CCDS5525.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.206180|2.206180	0.39003|0.39003	.|.	.|.	ENSG00000129103|ENSG00000129103	ENST00000413756|ENST00000342190	D|D	0.91577|0.91464	-2.87|-2.85	5.26|5.26	-10.5|-10.5	0.00291|0.00291	.|.	.|2.065410	.|0.02758	.|N	.|0.118241	T|T	0.77916|0.77916	0.4202|0.4202	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.51309|0.51309	-0.8722|-0.8722	6|8	0.87932|.	D|.	0|.	-24.9252|-24.9252	3.642|3.642	0.08170|0.08170	0.0917:0.2591:0.4127:0.2365|0.0917:0.2591:0.4127:0.2365	.|.	.|220;257	.|Q8NBJ7-4;F8WA42	.|.;.	W|L	326|257	ENSP00000406445:R326W|ENSP00000341938:S257L	ENSP00000406445:R326W|.	R|S	+|+	1|2	2|0	SUMF2|SUMF2	56114751|56114751	0.996000|0.996000	0.38824|0.38824	0.674000|0.674000	0.29902|0.29902	0.296000|0.296000	0.27459|0.27459	0.259000|0.259000	0.18405|0.18405	-1.923000|-1.923000	0.01065|0.01065	-2.624000|-2.624000	0.00155|0.00155	CGG|TCG	SUMF2	-	NULL		0.587	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF2	HGNC	protein_coding	OTTHUMT00000251587.1	C	NM_006213		56147257	1	no_errors	ENST00000342190	ensembl	human	known	70_37	missense	SNP	0.803	T	T	56147257	C	T	56147257	1	4	180	0	1	0	0	0	0	0	0	0	15416	893	31	1		1	SUMF2	7	56147257	IGR	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	12042729	56147257	102991406	111	33634										
GNAT3	346562	genome.wustl.edu	37	chr7	80087990	80087990	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaagagaaaatagttgattaGaaaagcccacagtcttttag	9	5	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:80087990G>C	ENST00000398291.3	-	8	1155	c.1062C>G	c.(1060-1062)ttC>ttG	p.F354L	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	354					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TAGTTGATTAGAAAAGCCCAC	0.348																																																	0													60	59	59					7																	80087990		1832	4073	5905	SO:0001583	missense	346562				CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.1062C>G	7.37:g.80087990G>C	ENSP00000381339:p.Phe354Leu		A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.F354L	ENST00000398291.3	37	c.1062	CCDS47625.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061596	0.76187	.	.	ENSG00000214415	ENST00000398291	D	0.88818	-2.43	5.57	2.41	0.29592	.	0.000000	0.85682	U	0.000000	D	0.87939	0.6304	N	0.17872	0.535	0.58432	D	0.999992	D	0.71674	0.998	D	0.87578	0.998	D	0.84437	0.0580	9	.	.	.	.	10.387	0.44145	0.2493:0.0:0.7507:0.0	.	354	A8MTJ3	GNAT3_HUMAN	L	354	ENSP00000381339:F354L	.	F	-	3	2	GNAT3	79925926	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	2.020000	0.41010	0.636000	0.30508	0.650000	0.86243	TTC	GNAT3	-	prints_Gprotein_alpha_I		0.348	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT3	HGNC	protein_coding	OTTHUMT00000339909.3	G	XM_294370		80087990	-1	no_errors	ENST00000398291	ensembl	human	known	70_37	missense	SNP	1.000	C	C	80087990	G	C	80087990	3	2	180	1	0	0	0	0	1	0	0	0	6532	956	33	1	4	1	GNAT3	7	80087990	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	23940733	80087990	79050673	112	33635										
ZNF804B	219578	genome.wustl.edu	37	chr7	88964154	88964154	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcagaaaggcagttctaaatGatatagatgaggacctatct	10	6	2	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:88964154G>A	ENST00000333190.4	+	4	2467	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	620							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGTTCTAAATGATATAGATGA	0.383										HNSCC(36;0.09)																																							0													70	74	73					7																	88964154		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1858G>A	7.37:g.88964154G>A	ENSP00000329638:p.Asp620Asn		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.D620N	ENST00000333190.4	37	c.1858	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906963	0.02434	.	.	ENSG00000182348	ENST00000333190	T	0.04862	3.54	5.49	-0.71	0.11234	.	0.811363	0.11324	N	0.575726	T	0.02727	0.0082	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.47058	-0.9146	10	0.09084	T	0.74	-6.7515	11.2466	0.49000	0.6296:0.0:0.3704:0.0	.	620	A4D1E1	Z804B_HUMAN	N	620	ENSP00000329638:D620N	ENSP00000329638:D620N	D	+	1	0	ZNF804B	88802090	0.014000	0.17966	0.642000	0.29436	0.016000	0.09150	0.618000	0.24373	-0.024000	0.13941	0.655000	0.94253	GAT	ZNF804B	-	NULL		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	G	NM_181646		88964154	1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	0.003	A	A	88964154	G	A	88964154	3	1	180	1	0	0	0	0	1	0	0	0	18201	1290	45	1	1872	1	ZNF804B	7	88964154	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	8876164	88964154	70174509	113	33636										
GTPBP10	85865	genome.wustl.edu	37	chr7	90012327	90012327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgcactcttggcagttaatAaaatggacttgccagatgcc	9	10	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:90012327A>G	ENST00000222511.6	+	9	901	c.835A>G	c.(835-837)Aaa>Gaa	p.K279E	GTPBP10_ENST00000257659.8_Missense_Mutation_p.K200E	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	279	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GGCAGTTAATAAAATGGACTT	0.338																																																	0													90	94	93					7																	90012327		2203	4300	6503	SO:0001583	missense	85865				CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.835A>G	7.37:g.90012327A>G	ENSP00000222511:p.Lys279Glu		B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain	p.K279E	ENST00000222511.6	37	c.835	CCDS5617.1	7	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553585	0.86127	.	.	ENSG00000105793	ENST00000257659;ENST00000222511;ENST00000417207	T;T;T	0.38401	1.14;1.14;1.14	5.72	5.72	0.89469	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.87290	0.2298	9	.	.	.	-7.1512	16.2852	0.82717	1.0:0.0:0.0:0.0	.	200;279	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	E	200;279;206	ENSP00000257659:K200E;ENSP00000222511:K279E;ENSP00000416596:K206E	.	K	+	1	0	GTPBP10	89850263	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.668000	0.91158	2.306000	0.77630	0.482000	0.46254	AAA	GTPBP10	-	pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pirsf_GTP-bd_Obg/CgtA		0.338	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP10	HGNC	protein_coding	OTTHUMT00000059976.3	A	NM_033107		90012327	1	no_errors	ENST00000222511	ensembl	human	known	70_37	missense	SNP	1.000	G	G	90012327	A	G	90012327	3	3	180	1	0	0	0	0	1	0	0	0	6899	363	13	5	869	5	GTPBP10	7	90012327	Missense_Mutation	SNP	A	TCGA-Q1-A5R2-01A-11D-A28B-09	1048173	90012327	69126336	114	33637										
SLC12A9	56996	genome.wustl.edu	37	chr7	100463436	100463436	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cggctttctctgagcctgcaGacagcaccagggagggcagt	14	12	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:100463436G>A	ENST00000354161.3	+	14	2079	c.1954G>A	c.(1954-1956)Gac>Aac	p.D652N	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	652					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAGCCTGCAGACAGCACCAG	0.642																																																	0													60	58	59					7																	100463436		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1954G>A	7.37:g.100463436G>A	ENSP00000275730:p.Asp652Asn		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	pfam_AA-permease_dom	p.D652N	ENST00000354161.3	37	c.1954	CCDS5707.1	7	.	.	.	.	.	.	.	.	.	.	G	8.261	0.811100	0.16537	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.91068	-2.78	5.44	3.63	0.41609	.	0.752810	0.12750	N	0.442240	T	0.81777	0.4894	N	0.21194	0.64	0.23227	N	0.998083	B	0.09022	0.002	B	0.06405	0.002	T	0.64449	-0.6405	10	0.15066	T	0.55	.	8.5673	0.33547	0.081:0.0:0.7666:0.1524	.	652	Q9BXP2	S12A9_HUMAN	N	652;278	ENSP00000275730:D652N	ENSP00000275730:D652N	D	+	1	0	SLC12A9	100301372	0.001000	0.12720	0.001000	0.08648	0.535000	0.34838	1.076000	0.30729	0.665000	0.31066	0.555000	0.69702	GAC	SLC12A9	-	NULL		0.642	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	HGNC	protein_coding	OTTHUMT00000342837.1	G	NM_020246		100463436	1	no_errors	ENST00000354161	ensembl	human	known	70_37	missense	SNP	0.006	A	A	100463436	G	A	100463436	3	1	180	1	0	0	0	0	1	0	0	0	14420	942	33	1	2004	1	SLC12A9	7	100463436	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	10451109	100463436	58675227	115	33638										
NRCAM	4897	genome.wustl.edu	37	chr7	107823359	107823359	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccattagattcgaaaccattCaagggctacaaggaaagcca	8	10	1	1	rs144556652	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:107823359C>G	ENST00000425651.2	-	20	2309	c.2310G>C	c.(2308-2310)ttG>ttC	p.L770F	NRCAM_ENST00000379024.4_Missense_Mutation_p.L751F|NRCAM_ENST00000379022.4_Missense_Mutation_p.L770F|NRCAM_ENST00000413765.2_Missense_Mutation_p.L751F|NRCAM_ENST00000351718.4_Missense_Mutation_p.L754F|NRCAM_ENST00000379028.3_Missense_Mutation_p.L770F	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	770	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGAAACCATTCAAGGGCTACA	0.423																																																	0													54	51	52					7																	107823359		2203	4300	6503	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2310G>C	7.37:g.107823359C>G	ENSP00000401244:p.Leu770Phe		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L770F	ENST00000425651.2	37	c.2310	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781115	0.70222	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	5.58	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.068381	0.64402	D	0.000012	T	0.70029	0.3177	M	0.84511	2.7	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.982;0.995;0.996;0.999;0.997	P;D;D;D;D	0.72625	0.868;0.962;0.978;0.978;0.96	T	0.73180	-0.4064	10	0.72032	D	0.01	.	6.4621	0.21962	0.0:0.7403:0.0:0.2597	.	770;751;751;754;770	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	F	770;770;751;770;754;751;770;770;754	ENSP00000368314:L770F;ENSP00000407858:L751F;ENSP00000325269:L754F;ENSP00000368310:L751F;ENSP00000401244:L770F;ENSP00000368308:L770F	ENSP00000325269:L754F	L	-	3	2	NRCAM	107610595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.891000	0.28309	2.602000	0.87976	0.650000	0.86243	TTG	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	C	NM_001037132		107823359	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	missense	SNP	1.000	G	G	107823359	C	G	107823359	3	3	180	1	0	0	0	0	1	0	0	0	10668	825	29	1	1678	1	NRCAM	7	107823359	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	7359923	107823359	51315304	116	33639										
DOCK4	9732	genome.wustl.edu	37	chr7	111449381	111449381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctaacacctttttcttcttgGaaggtgtgaacatctccaac	6	11	3	1	rs192482962	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:111449381G>A	ENST00000437633.1	-	29	3339	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Missense_Mutation_p.S1028F	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1028					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTCTTCTTGGAAGGTGTGAA	0.338																																																	0													73	66	68					7																	111449381		1856	4077	5933	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3083C>T	7.37:g.111449381G>A	ENSP00000404179:p.Ser1028Phe		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.S1028F	ENST00000437633.1	37	c.3083	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.485675|4.485675	0.84854|0.84854	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.26518	.|1.73;1.73	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37183|0.37183	0.0994|0.0994	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43607	.|0.715;0.715;0.812	.|B;B;P	.|0.50490	.|0.438;0.342;0.642	T|T	0.05257|0.05257	-1.0896|-1.0896	5|10	.|0.66056	.|D	.|0.02	.|.	18.9052|18.9052	0.92458|0.92458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1064;1028;1028	.|Q149N5;Q8N1I0;Q8N1I0-2	.|.;DOCK4_HUMAN;.	S|F	480;1052|1016;1028;1028;1016;1027	.|ENSP00000410746:S1028F;ENSP00000404179:S1028F	.|ENSP00000345432:S1016F	P|S	-|-	1|2	0|0	DOCK4|DOCK4	111236617|111236617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.594000|7.594000	0.82698|0.82698	2.782000|2.782000	0.95742|0.95742	0.557000|0.557000	0.71058|0.71058	CCA|TCC	DOCK4	-	NULL		0.338	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	G	NM_014705		111449381	-1	no_errors	ENST00000428084	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111449381	G	A	111449381	3	1	180	1	0	0	0	0	1	0	0	0	4699	1174	41	1	2913	1	DOCK4	7	111449381	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3626022	111449381	47689282	117	33640										
POT1	25913	genome.wustl.edu	37	chr7	124475408	124475408	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccaggtcttcgtggccagatCtcacaggaattacactatta	8	11	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:124475408C>T	ENST00000357628.3	-	15	2028	c.1430G>A	c.(1429-1431)aGa>aAa	p.R477K	POT1_ENST00000393329.1_Missense_Mutation_p.R346K	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	477					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.R477T(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGCCAGATCTCACAGGAAT	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												4	Substitution - Missense(4)	lung(4)											165	166	166					7																	124475408		2203	4300	6503	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1430G>A	7.37:g.124475408C>T	ENSP00000350249:p.Arg477Lys		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd	p.R477K	ENST00000357628.3	37	c.1430	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	C	9.422	1.083245	0.20309	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000265391	T;T	0.41400	1.0;1.0	5.54	-4.44	0.03557	.	0.523932	0.22488	N	0.059410	T	0.18800	0.0451	N	0.25890	0.77	0.26589	N	0.97324	B	0.02656	0.0	B	0.04013	0.001	T	0.18398	-1.0338	10	0.14656	T	0.56	-6.1835	4.4511	0.11621	0.1176:0.1696:0.116:0.5968	.	477	Q9NUX5	POTE1_HUMAN	K	477;346;477;476	ENSP00000350249:R477K;ENSP00000377002:R346K	ENSP00000265391:R476K	R	-	2	0	POT1	124262644	0.074000	0.21230	0.413000	0.26509	0.943000	0.58893	-1.285000	0.02791	-0.502000	0.06596	-0.282000	0.10007	AGA	POT1	-	NULL		0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	C			124475408	-1	no_errors	ENST00000357628	ensembl	human	known	70_37	missense	SNP	0.745	T	T	124475408	C	T	124475408	3	4	180	1	0	0	0	0	1	0	0	0	12284	913	32	1	494	1	POT1	7	124475408	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	13026027	124475408	34663255	118	33641										
GCC1	79571	genome.wustl.edu	37	chr7	127222266	127222266	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccctccctgctctggtccctGatgttcttttcgatgtggct	9	14	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:127222266G>A	ENST00000321407.2	-	2	2554	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	710					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCTGGTCCCTGATGTTCTTTT	0.587																																																	0													226	218	220					7																	127222266		2203	4300	6503	SO:0001819	synonymous_variant	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2130C>T	7.37:g.127222266G>A			Q9H6N7	Silent	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.I710	ENST00000321407.2	37	c.2130	CCDS5796.1	7																																																																																			GCC1	-	superfamily_ARM-type_fold		0.587	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	G	NM_024523		127222266	-1	no_errors	ENST00000321407	ensembl	human	known	70_37	silent	SNP	0.995	A	A	127222266	G	A	127222266	2	1	180	1	0	0	0	0	0	0	0	1	6304	1280	45	1		1	GCC1	7	127222266	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2746858	127222266	31916397	119	33642										
TBXAS1	6916	genome.wustl.edu	37	chr7	139717537	139717537	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cccttcggggccggcccacgGagctgcctcggggtgcgtct	16	16	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:139717537G>A	ENST00000336425.5	+	16	1820	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	TBXAS1_ENST00000416849.2_Silent_p.R524R|TBXAS1_ENST00000425687.1_Silent_p.R410R|TBXAS1_ENST00000436047.2_Silent_p.R478R|TBXAS1_ENST00000448866.1_Silent_p.R477R|TBXAS1_ENST00000263552.6_Silent_p.R478R|TBXAS1_ENST00000458722.1_Silent_p.R523R|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000414508.2_Intron			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	477					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCGGCCCACGGAGCTGCCTCG	0.667																																																	0													48	53	52					7																	139717537		2203	4300	6503	SO:0001819	synonymous_variant	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1431G>A	7.37:g.139717537G>A			B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.R524	ENST00000336425.5	37	c.1572		7																																																																																			TBXAS1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B		0.667	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	TBXAS1	HGNC	protein_coding	OTTHUMT00000348373.1	G			139717537	1	no_errors	ENST00000416849	ensembl	human	known	70_37	silent	SNP	0.994	A	A	139717537	G	A	139717537	2	1	180	1	0	0	0	0	0	0	0	1	15694	1161	41	1		1	TBXAS1	7	139717537	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	12495271	139717537	19421126	120	33643										
CNTNAP2	26047	genome.wustl.edu	37	chr7	147844582	147844582	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcatgctttctgctcctccaGctgccacagaagtgtccttt	7	14	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:147844582G>A	ENST00000361727.3	+	17	3070		c.e17-1		CNTNAP2_ENST00000538075.1_Splice_Site	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCTCCTCCAGCTGCCACAGA	0.453										HNSCC(39;0.1)																																							0													116	117	117					7																	147844582		2203	4300	6503	SO:0001630	splice_region_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2555-1G>A	7.37:g.147844582G>A			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Splice_Site	SNP	-	e17-1	ENST00000361727.3	37	c.2555-1	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403354	0.83230	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6488	0.88157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP2	147475515	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.756000	0.98918	2.507000	0.84556	0.561000	0.74099	.	CNTNAP2	-	-		0.453	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	G		Intron	147844582	1	no_errors	ENST00000361727	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	147844582	G	A	147844582	5	1	180	1	0	0	0	0	0	0	1	0	3652	985	34	4	2620	4	CNTNAP2	7	147844582	Splice_Site	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	8127045	147844582	11294081	121	33644										
MLL3	58508	genome.wustl.edu	37	chr7	151860728	151860728	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgttgtgtgctgctggtgctGaagctgctgtggcaccatgg	16	8	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr7:151860728G>A	ENST00000262189.6	-	43	10152	c.9934C>T	c.(9934-9936)Cag>Tag	p.Q3312*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q3312*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3312	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q3312*(2)									TGCTGGTGCTGAAGCTGCTGT	0.572																																																	2	Substitution - Nonsense(2)	biliary_tract(2)											149	124	132					7																	151860728		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9934C>T	7.37:g.151860728G>A	ENSP00000262189:p.Gln3312*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3312*	ENST00000262189.6	37	c.9934	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	20.438130|20.438130	0.99930|0.99930	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|.	.|.	.|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.195128|.	0.25792|.	N|.	0.028267|.	.|T	.|0.74176	.|0.3682	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73871	.|-0.3846	.|4	0.02654|.	T|.	1|.	.|.	18.2295|18.2295	0.89929|0.89929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	3312|817	.|.	ENSP00000262189:Q3312X|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151491661|151491661	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.994000|0.994000	0.84299|0.84299	9.109000|9.109000	0.94291|0.94291	2.275000|2.275000	0.75901|0.75901	0.655000|0.655000	0.94253|0.94253	CAG|TCA	MLL3	-	NULL		0.572	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151860728	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	151860728	G	A	151860728	4	1	180	1	0	0	0	0	0	1	0	0	9645	1299	45	1	4869	1	MLL3	7	151860728	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4016146	151860728	7277935	122	33645										
HOOK3	84376	genome.wustl.edu	37	chr8	42821733	42821733	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcagatgaagctcagtctctGaaagatgagatcgacgtgct	12	8	2	5			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:42821733G>C	ENST00000307602.4	+	10	1097	c.897G>C	c.(895-897)ctG>ctC	p.L299L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	299					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTCAGTCTCTGAAAGATGAGA	0.448			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													162	146	151					8																	42821733		2203	4300	6503	SO:0001819	synonymous_variant	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.897G>C	8.37:g.42821733G>C			D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	pfam_HOOK,superfamily_t-SNARE	p.L299	ENST00000307602.4	37	c.897	CCDS6139.1	8																																																																																			HOOK3	-	pfam_HOOK		0.448	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2	G	NM_032410		42821733	1	no_errors	ENST00000307602	ensembl	human	known	70_37	silent	SNP	0.084	C	C	42821733	G	C	42821733	2	2	180	1	0	0	0	0	0	0	0	1	7304	1277	45	1		1	HOOK3	8	42821733	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		42821733	103542289	123	33646										
PXDNL	137902	genome.wustl.edu	37	chr8	52384809	52384809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcccggcaggtgaagtagacGgtatttcctgatggtacctc	13	10	0	3	rs372855537		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:52384809G>A	ENST00000356297.4	-	8	850	c.750C>T	c.(748-750)acC>acT	p.T250T	PXDNL_ENST00000543296.1_Silent_p.T250T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	250	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGAAGTAGACGGTATTTCCTG	0.428																																																	0								A		1,3755		0,1,1877	164	157	159		750	1.3	0.4	8		159	1,8191		0,1,4095	no	coding-synonymous	PXDNL	NM_144651.4		0,2,5972	AA,AG,GG		0.0122,0.0266,0.0167		250/1464	52384809	2,11946	1878	4096	5974	SO:0001819	synonymous_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.750C>T	8.37:g.52384809G>A			B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr	p.T250	ENST00000356297.4	37	c.750	CCDS47855.1	8																																																																																			PXDNL	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	G	NM_144651		52384809	-1	no_errors	ENST00000356297	ensembl	human	known	70_37	silent	SNP	0.967	A	A	52384809	G	A	52384809	2	1	180	1	0	0	0	0	0	0	0	1	12878	1103	39	2		2	PXDNL	8	52384809	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	9563076	52384809	93979213	124	33647										
XKR4	114786	genome.wustl.edu	37	chr8	56015667	56015667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgcagccggggaaggcgagGctcgtccttccacgccgcaa	14	15	0	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:56015667G>A	ENST00000327381.6	+	1	719	c.619G>A	c.(619-621)Gct>Act	p.A207T		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	207						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGAAGGCGAGGCTCGTCCTTC	0.697																																																	0													28	30	29					8																	56015667		2202	4296	6498	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.619G>A	8.37:g.56015667G>A	ENSP00000328326:p.Ala207Thr		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.A207T	ENST00000327381.6	37	c.619	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183271	0.57800	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82893	-1.66	5.43	3.53	0.40419	.	2.010650	0.03481	N	0.215107	T	0.73931	0.3650	N	0.14661	0.345	0.32363	N	0.556882	B	0.24426	0.103	B	0.23574	0.047	T	0.63301	-0.6668	10	0.39692	T	0.17	-0.2295	10.4717	0.44640	0.0727:0.1344:0.7929:0.0	.	207	Q5GH76	XKR4_HUMAN	T	207	ENSP00000328326:A207T	ENSP00000328326:A207T	A	+	1	0	XKR4	56178221	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.904000	0.39868	1.300000	0.44818	0.555000	0.69702	GCT	XKR4	-	pfam_Transport_prot_XK		0.697	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	G	NM_052898		56015667	1	no_errors	ENST00000327381	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56015667	G	A	56015667	3	1	180	1	0	0	0	0	1	0	0	0	17464	1203	42	4	621	4	XKR4	8	56015667	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3630858	56015667	90348355	125	33648										
CHD7	55636	genome.wustl.edu	37	chr8	61654065	61654065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgaaggtcttgaaggcctcgGagaatgtggttacccggaaa	14	7	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:61654065G>A	ENST00000423902.2	+	2	553	c.74G>A	c.(73-75)gGa>gAa	p.G25E	CHD7_ENST00000525508.1_Missense_Mutation_p.G25E|CHD7_ENST00000524602.1_Missense_Mutation_p.G25E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	25					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGGCCTCGGAGAATGTGGT	0.468																																																	0													100	94	96					8																	61654065		1904	4128	6032	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.74G>A	8.37:g.61654065G>A	ENSP00000392028:p.Gly25Glu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G25E	ENST00000423902.2	37	c.74	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441691	0.43326	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000526846;ENST00000524602;ENST00000525508	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.19	4.3	0.51218	.	0.000000	0.39020	N	0.001495	T	0.48502	0.1503	L	0.40543	1.245	0.40088	D	0.976216	D	0.54964	0.969	P	0.45506	0.483	T	0.53683	-0.8404	10	0.56958	D	0.05	-14.1281	14.0337	0.64632	0.0:0.1511:0.8489:0.0	.	25	Q9P2D1	CHD7_HUMAN	E	25	ENSP00000392028:G25E;ENSP00000436492:G25E;ENSP00000437061:G25E;ENSP00000436027:G25E	ENSP00000307304:G25E	G	+	2	0	CHD7	61816619	1.000000	0.71417	0.941000	0.38009	0.981000	0.71138	6.262000	0.72514	1.173000	0.42796	0.585000	0.79938	GGA	CHD7	-	NULL		0.468	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61654065	1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	0.998	A	A	61654065	G	A	61654065	3	1	180	1	0	0	0	0	1	0	0	0	3335	1174	41	1	76	1	CHD7	8	61654065	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	5638398	61654065	84709957	126	33649										
MTFR1	9650	genome.wustl.edu	37	chr8	66619462	66619462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctagagatccttaaagagatGaacagtgtaaaacttcggtc	9	7	0	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:66619462G>A	ENST00000262146.4	+	6	861	c.735G>A	c.(733-735)atG>atA	p.M245I	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.M212I	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	245	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTAAAGAGATGAACAGTGTAA	0.388																																																	0													91	88	89					8																	66619462		2203	4300	6503	SO:0001583	missense	9650				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.735G>A	8.37:g.66619462G>A	ENSP00000262146:p.Met245Ile		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	pfam_Mtfr1	p.M245I	ENST00000262146.4	37	c.735	CCDS6182.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.403226|4.403226	0.83230|0.83230	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000527155|ENST00000518609;ENST00000262146;ENST00000458689;ENST00000521247	.|T;T;T	.|0.51574	.|0.7;0.7;0.7	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.037391	.|0.85682	.|D	.|0.000000	T|T	0.67116|0.67116	0.2859|0.2859	M|M	0.69248|0.69248	2.105|2.105	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;D;P	.|0.67145	.|0.987;0.943;0.996;0.926	.|D;P;P;P	.|0.68039	.|0.955;0.896;0.88;0.729	T|T	0.66077|0.66077	-0.6013|-0.6013	5|10	.|0.42905	.|T	.|0.14	-5.0811|-5.0811	19.1023|19.1023	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|245;229;212;245	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	K|I	59|229;245;212;61	.|ENSP00000262146:M245I;ENSP00000391502:M212I;ENSP00000429253:M61I	.|ENSP00000262146:M245I	E|M	+|+	1|3	0|0	MTFR1|MTFR1	66782016|66782016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.398000|4.398000	0.59697|0.59697	2.504000|2.504000	0.84457|0.84457	0.563000|0.563000	0.77884|0.77884	GAA|ATG	MTFR1	-	pfam_Mtfr1		0.388	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	HGNC	protein_coding	OTTHUMT00000378894.1	G	NM_014637		66619462	1	no_errors	ENST00000262146	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66619462	G	A	66619462	3	1	180	1	0	0	0	0	1	0	0	0	9948	1290	45	1	753	1	MTFR1	8	66619462	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4965397	66619462	79744560	127	33650										
CSPP1	79848	genome.wustl.edu	37	chr8	68102956	68102956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	catcacagttgccctctgcaCgggagcgcaggaggaacaaa	12	12	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:68102956C>T	ENST00000262210.5	+	27	3308	c.3277C>T	c.(3277-3279)Cgg>Tgg	p.R1093W	CSPP1_ENST00000412460.1_Missense_Mutation_p.R748W|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1128					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCCCTCTGCACGGGAGCGCAG	0.502																																																	0													105	102	103					8																	68102956		1950	4135	6085	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3277C>T	8.37:g.68102956C>T	ENSP00000262210:p.Arg1093Trp		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.R1093W	ENST00000262210.5	37	c.3277	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778417	0.49786	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.66815	-0.23;-0.2;-0.2	4.42	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	T	0.78750	-0.2082	10	0.87932	D	0	-12.1488	9.5396	0.39244	0.8122:0.1878:0.0:0.0	.	251;748;1093;1128	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	W	1093;1128;748;748	ENSP00000262210:R1093W;ENSP00000415782:R748W;ENSP00000430092:R748W	ENSP00000262210:R1093W	R	+	1	2	CSPP1	68265510	0.908000	0.30866	0.794000	0.32065	0.372000	0.29890	1.688000	0.37690	1.035000	0.39972	-0.271000	0.10264	CGG	CSPP1	-	NULL		0.502	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	C	NM_024790		68102956	1	no_errors	ENST00000262210	ensembl	human	known	70_37	missense	SNP	0.879	T	T	68102956	C	T	68102956	3	4	180	1	0	0	0	0	1	0	0	0	3967	527	19	2	3496	2	CSPP1	8	68102956	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	1483494	68102956	78261066	128	33651										
RUNX1T1	862	genome.wustl.edu	37	chr8	93026941	93026941	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acaggctgggggcagctgttGattagccagagaggaggagg	19	6	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:93026941G>A	ENST00000523629.1	-	4	788	c.334C>T	c.(334-336)Caa>Taa	p.Q112*	RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.Q85*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.Q75*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.Q75*|RUNX1T1_ENST00000521553.1_Nonsense_Mutation_p.Q75*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.Q85*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.Q75*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.Q112*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.Q123*|RUNX1T1_ENST00000522163.1_5'Flank	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	112					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGCAGCTGTTGATTAGCCAGA	0.557																																																	0													62	63	63					8																	93026941		2203	4300	6503	SO:0001587	stop_gained	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.334C>T	8.37:g.93026941G>A	ENSP00000428543:p.Gln112*		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.Q123*	ENST00000523629.1	37	c.367	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426139	0.83667	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-17.3419	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	X	112;85;112;75;75;75;123;85;75;112;75;112;75;112;112;85;75;75;112;112	.	ENSP00000265814:Q112X	Q	-	1	0	RUNX1T1	93096117	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.823000	0.99369	2.878000	0.98634	0.650000	0.86243	CAA	RUNX1T1	-	NULL		0.557	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93026941	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	93026941	G	A	93026941	4	1	180	1	0	0	0	0	0	1	0	0	13777	1299	45	1	1516	1	RUNX1T1	8	93026941	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	24923985	93026941	53337081	129	33652										
RNF19A	25897	genome.wustl.edu	37	chr8	101300374	101300374	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acagcccttcattatatttaGagataaaacctatttcttgt	4	8	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:101300374G>C	ENST00000519449.1	-	3	345	c.29C>G	c.(28-30)tCt>tGt	p.S10C	RNF19A_ENST00000341084.2_Missense_Mutation_p.S10C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	10					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATTATATTTAGAGATAAAACC	0.353																																																	0													40	41	41					8																	101300374		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.29C>G	8.37:g.101300374G>C	ENSP00000428968:p.Ser10Cys		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.S10C	ENST00000519449.1	37	c.29	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	G	5.788	0.329745	0.10956	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167;ENST00000522369;ENST00000432381;ENST00000523481	D;D	0.83837	-1.77;-1.77	5.83	-2.53	0.06326	.	0.910659	0.09394	N	0.808213	T	0.69913	0.3164	N	0.14661	0.345	0.18873	N	0.999986	B	0.20164	0.042	B	0.21917	0.037	T	0.55566	-0.8121	10	0.54805	T	0.06	.	13.0159	0.58757	0.7578:0.0:0.2422:0.0	.	10	Q9NV58	RN19A_HUMAN	C	10	ENSP00000428968:S10C;ENSP00000342667:S10C	ENSP00000342667:S10C	S	-	2	0	RNF19A	101369550	0.171000	0.23029	0.812000	0.32479	0.992000	0.81027	0.067000	0.14510	-0.633000	0.05545	0.650000	0.86243	TCT	RNF19A	-	NULL		0.353	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	G	NM_015435		101300374	-1	no_errors	ENST00000341084	ensembl	human	known	70_37	missense	SNP	0.177	C	C	101300374	G	C	101300374	3	2	180	1	0	0	0	0	1	0	0	0	13500	942	33	1	2523	1	RNF19A	8	101300374	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	8273433	101300374	45063648	130	33653										
ADCY8	114	genome.wustl.edu	37	chr8	131861929	131861929	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gccaaataggtctcattaatCcaacagcaagttttccggag	8	10	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:131861929C>G	ENST00000286355.5	-	10	4423	c.2331G>C	c.(2329-2331)tgG>tgC	p.W777C	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	777					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCTCATTAATCCAACAGCAAG	0.448										HNSCC(32;0.087)																																							0													129	119	122					8																	131861929		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2331G>C	8.37:g.131861929C>G	ENSP00000286355:p.Trp777Cys			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.W777C	ENST00000286355.5	37	c.2331	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783517	0.70222	.	.	ENSG00000155897	ENST00000286355	T	0.48201	0.82	5.31	5.31	0.75309	.	0.116742	0.64402	D	0.000006	T	0.61850	0.2380	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.59048	-0.7527	10	0.38643	T	0.18	.	17.9575	0.89074	0.0:1.0:0.0:0.0	.	777	P40145	ADCY8_HUMAN	C	777	ENSP00000286355:W777C	ENSP00000286355:W777C	W	-	3	0	ADCY8	131931111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.375000	0.79646	2.465000	0.83290	0.655000	0.94253	TGG	ADCY8	-	NULL		0.448	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131861929	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	missense	SNP	1.000	G	G	131861929	C	G	131861929	3	3	180	1	0	0	0	0	1	0	0	0	300	856	30	1	1460	1	ADCY8	8	131861929	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	30561555	131861929	14502093	131	33654										
TG	7038	genome.wustl.edu	37	chr8	133898695	133898695	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcactttgtctcatgcagctGaaggccaatcttgtgcctcc	8	13	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr8:133898695G>A	ENST00000220616.4	+	9	1118	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	TG_ENST00000377869.1_Missense_Mutation_p.E360K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	360					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCATGCAGCTGAAGGCCAATC	0.493																																																	0													84	85	85					8																	133898695		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1078G>A	8.37:g.133898695G>A	ENSP00000220616:p.Glu360Lys		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.E360K	ENST00000220616.4	37	c.1078	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	7.466	0.645693	0.14451	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.64260	-0.09;-0.09	5.28	3.44	0.39384	Thyroglobulin type-1 (2);	2.889650	0.01148	N	0.006354	T	0.58119	0.2100	L	0.42245	1.32	0.22710	N	0.99882	B	0.12630	0.006	B	0.10450	0.005	T	0.38929	-0.9638	10	0.41790	T	0.15	.	8.203	0.31436	0.0797:0.0:0.7655:0.1548	.	360	P01266	THYG_HUMAN	K	360	ENSP00000367100:E360K;ENSP00000220616:E360K	ENSP00000220616:E360K	E	+	1	0	TG	133967877	0.987000	0.35691	0.635000	0.29338	0.083000	0.17756	2.233000	0.43027	0.750000	0.32877	0.655000	0.94253	GAA	TG	-	superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		133898695	1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.929	A	A	133898695	G	A	133898695	3	1	180	1	0	0	0	0	1	0	0	0	15843	1291	45	1	1112	1	TG	8	133898695	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2036766	133898695	12465327	132	33655										
C9orf66	157983	genome.wustl.edu	37	chr9	214656	214656	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcgtccgcccgcgctcccttCggccggaggtcggcggcccc	14	20	0	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:214656C>T	ENST00000382387.2	-	1	1237	c.741G>A	c.(739-741)ccG>ccA	p.P247P	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	247	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGCTCCCTTCGGCCGGAGGT	0.751																																																	0													9	10	9					9																	214656		2188	4268	6456	SO:0001819	synonymous_variant	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.741G>A	9.37:g.214656C>T			Q96NB0	Silent	SNP	NULL	p.P247	ENST00000382387.2	37	c.741	CCDS6439.1	9																																																																																			C9orf66	-	NULL		0.751	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf66	HGNC	protein_coding	OTTHUMT00000055436.1	C	NM_152569		214656	-1	no_errors	ENST00000382387	ensembl	human	known	70_37	silent	SNP	0.002	T	T	214656	C	T	214656	2	4	180	1	0	0	0	0	0	0	0	1	2495	871	31	1		1	C9orf66	9	214656	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		214656	140998775	133	33656										
UBAP2	54926	genome.wustl.edu	37	chr9	33922521	33922521	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tttagtttgtccagtatggaGagttgccgtaggcaggtttg	14	5	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:33922521G>A	ENST00000263228.3	+	0	4075				UBAP2_ENST00000379239.4_Missense_Mutation_p.S847F|UBAP2_ENST00000449054.1_Missense_Mutation_p.S1114F|UBAP2_ENST00000379238.1_Missense_Mutation_p.S1114F|UBAP2_ENST00000360802.1_Missense_Mutation_p.S1114F|UBAP2_ENST00000379235.1_Missense_Mutation_p.S353F|UBAP2_ENST00000539807.1_Missense_Mutation_p.S869F	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		CCAGTATGGAGAGTTGCCGTA	0.597											OREG0019144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49	45	46					9																	33922521		2203	4300	6503	SO:0001628	intergenic_variant	55833			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"Ubiquitin-conjugating enzymes E2"	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33922521G>A		843	D3DRL5|Q9NX64	Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.S1114F	ENST00000263228.3	37	c.3341	CCDS6546.1	9	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495859	0.64186	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807	T;T;T;T;T;T	0.55052	2.22;2.22;2.22;0.54;1.97;2.02	5.58	5.58	0.84498	.	0.096959	0.64402	D	0.000001	T	0.70360	0.3215	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.57257	0.979;0.979;0.979;0.964	P;P;P;P	0.58454	0.839;0.839;0.839;0.694	T	0.72740	-0.4202	10	0.87932	D	0	-11.1272	18.7458	0.91792	0.0:0.0:1.0:0.0	.	869;847;1023;1114	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	F	1114;1114;1114;1023;353;847;869	ENSP00000368540:S1114F;ENSP00000416932:S1114F;ENSP00000354039:S1114F;ENSP00000368537:S353F;ENSP00000368541:S847F;ENSP00000439329:S869F	ENSP00000354039:S1114F	S	-	2	0	UBAP2	33912521	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.067000	0.64357	2.906000	0.99361	0.655000	0.94253	TCT	UBAP2	-	NULL		0.597	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000052118.1	G	NM_017811		33922521	-1	no_errors	ENST00000360802	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33922521	G	A	33922521	1	1	180	0	1	0	0	0	0	0	0	0	16868	942	33	1		1	UBAP2	9	33922521	IGR	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	33707865	33922521	107290910	134	33657										
FAM75A3	727830	genome.wustl.edu	37	chr9	40703031	40703031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcttcactgctcctcccctgCgggactccacactgataact	7	17	1	1	rs538838624	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:40703031C>T	ENST00000356699.5	+	4	717	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	230					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCTCCCCTGCGGGACTCCAC	0.582													C|||	44	0.00878594	0.031	0.0014	5008	,	,		17284	0		0	False		,,,				2504	0.002																0																																										SO:0001583	missense	727830					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.688C>T	9.37:g.40703031C>T	ENSP00000349132:p.Arg230Trp			Missense_Mutation	SNP	NULL	p.R230W	ENST00000356699.5	37	c.688	CCDS47969.1	9	.	.	.	.	.	.	.	.	.	.	C	6.879	0.531515	0.13127	.	.	ENSG00000147926	ENST00000356699	T	0.04809	3.55	1.94	-1.5	0.08691	.	0.927636	0.08745	N	0.899951	T	0.04815	0.0130	L	0.59436	1.845	0.09310	N	1	B	0.19817	0.039	B	0.09377	0.004	T	0.44967	-0.9293	10	0.45353	T	0.12	4.561	0.73	0.00955	0.2415:0.3536:0.238:0.1669	.	230	Q5VYP0	F75A3_HUMAN	W	230	ENSP00000349132:R230W	ENSP00000349132:R230W	R	+	1	2	FAM75A3	40693031	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.631000	0.02026	-0.406000	0.07588	-0.268000	0.10319	CGG	SPATA31A3	-	NULL		0.582	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A3	HGNC	protein_coding	OTTHUMT00000036919.1	C	NM_001083124		40703031	1	no_errors	ENST00000356699	ensembl	human	known	70_37	missense	SNP	0.000	T	T	40703031	C	T	40703031	3	4	180	1	0	0	0	0	1	0	0	0	5639	759	27	2	702	2	FAM75A3	9	40703031	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	6780510	40703031	100510400	135	33658										
ALDH1A1	216	genome.wustl.edu	37	chr9	75545857	75545857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtataatagtcgccccctctCggaagcatccatagtacgcc	8	14	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:75545857C>T	ENST00000297785.3	-	3	304	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ALDH1A1_ENST00000376939.1_Missense_Mutation_p.E84K|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	84					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	CGCCCCCTCTCGGAAGCATCC	0.493																																																	0													92	92	92					9																	75545857		2203	4300	6503	SO:0001583	missense	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.250G>A	9.37:g.75545857C>T	ENSP00000297785:p.Glu84Lys		O00768|Q5SYR1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.E84K	ENST00000297785.3	37	c.250	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282525	0.59867	.	.	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.46	4.56	0.56223	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000001	T	0.78553	0.4301	L	0.52206	1.635	0.50467	D	0.999871	P	0.51791	0.948	P	0.50352	0.638	T	0.77892	-0.2418	10	0.39692	T	0.17	.	14.2143	0.65783	0.0:0.9284:0.0:0.0716	.	84	P00352	AL1A1_HUMAN	K	84;84;98;84;84	ENSP00000297785:E84K;ENSP00000366138:E84K;ENSP00000388026:E84K;ENSP00000401361:E84K	ENSP00000297785:E84K	E	-	1	0	ALDH1A1	74735677	1.000000	0.71417	0.811000	0.32455	0.786000	0.44442	5.719000	0.68462	1.309000	0.44985	0.650000	0.86243	GAG	ALDH1A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.493	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	C			75545857	-1	no_errors	ENST00000297785	ensembl	human	known	70_37	missense	SNP	0.991	T	T	75545857	C	T	75545857	3	4	180	1	0	0	0	0	1	0	0	0	490	893	31	1	1299	1	ALDH1A1	9	75545857	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	34842826	75545857	65667574	136	33659										
FLJ46321	389763	genome.wustl.edu	37	chr9	84603757	84603757	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gagaatatcctctgttttctGaacagctatactgagacagg	9	8	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:84603757G>A	ENST00000344803.2	+	1	71	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	8					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTGTTTTCTGAACAGCTATA	0.493																																																	0													142	126	131					9																	84603757		1856	4103	5959	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.24G>A	9.37:g.84603757G>A				Silent	SNP	NULL	p.L8	ENST00000344803.2	37	c.24	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84603757	1	no_errors	ENST00000344803	ensembl	human	known	70_37	silent	SNP	0.001	A	A	84603757	G	A	84603757	2	1	180	1	0	0	0	0	0	0	0	1	5950	1277	45	1		1	FLJ46321	9	84603757	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	9057900	84603757	56609674	137	33660										
BICD2	23299	genome.wustl.edu	37	chr9	95477650	95477650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcgccagcttctgctggatgGccatgcgcagcagcgagttc	14	13	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:95477650G>A	ENST00000375512.3	-	7	2421	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	BICD2_ENST00000356884.6_Missense_Mutation_p.A785V	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	785	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCTGGATGGCCATGCGCAG	0.637																																																	0													34	32	33					9																	95477650		2203	4299	6502	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2354C>T	9.37:g.95477650G>A	ENSP00000364662:p.Ala785Val		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.A785V	ENST00000375512.3	37	c.2354	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.459818	0.96240	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.65178	-0.14;-0.14	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80454	0.4626	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.78934	-0.2008	10	0.27785	T	0.31	-25.4584	16.588	0.84732	0.0:0.0:1.0:0.0	.	785;785	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	V	785	ENSP00000349351:A785V;ENSP00000364662:A785V	ENSP00000349351:A785V	A	-	2	0	BICD2	94517471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.734000	0.98822	2.593000	0.87608	0.655000	0.94253	GCC	BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	G	NM_015250		95477650	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95477650	G	A	95477650	3	1	180	1	0	0	0	0	1	0	0	0	1430	1203	42	4	227	4	BICD2	9	95477650	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	10873893	95477650	45735781	138	33661										
BICD2	23299	genome.wustl.edu	37	chr9	95481751	95481751	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cgccgcagggcactcagattCtctgtgaggcgggtcacctt	13	13	3	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:95481751C>T	ENST00000375512.3	-	5	1243	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	BICD2_ENST00000356884.6_Silent_p.E392E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	392					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACTCAGATTCTCTGTGAGGC	0.642																																																	0													55	53	54					9																	95481751		2203	4300	6503	SO:0001819	synonymous_variant	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1176G>A	9.37:g.95481751C>T			O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	pfam_Bicaudal-D_microtubule-assoc	p.E392	ENST00000375512.3	37	c.1176	CCDS6700.1	9																																																																																			BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.642	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	C	NM_015250		95481751	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95481751	C	T	95481751	2	4	180	1	0	0	0	0	0	0	0	1	1430	912	32	1		1	BICD2	9	95481751	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	4101	95481751	45731680	139	33662										
ZNF484	83744	genome.wustl.edu	37	chr9	95609151	95609151	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agtaaaagcctttccacattCagcacacctatagggtttct	6	11	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:95609151C>T	ENST00000375495.3	-	5	2066	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	ZNF484_ENST00000395505.2_Missense_Mutation_p.E604K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E642K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E604K	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTTCCACATTCAGCACACCTA	0.413																																																	0													80	79	79					9																	95609151		2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1918G>A	9.37:g.95609151C>T	ENSP00000364645:p.Glu640Lys		B1AL89|B4DRI2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E642K	ENST00000375495.3	37	c.1924	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	14.22	2.471195	0.43942	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	2.36	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	N	0.25144	0.715	0.22185	N	0.999305	P;P	0.37573	0.6;0.6	B;B	0.44085	0.44;0.44	T	0.33574	-0.9863	9	0.66056	D	0.02	.	8.9099	0.35546	0.0:0.7676:0.2324:0.0	.	642;640	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	604;642;640;604	ENSP00000378881:E604K;ENSP00000378882:E642K;ENSP00000364645:E640K;ENSP00000364646:E604K	ENSP00000364646:E604K	E	-	1	0	ZNF484	94648972	0.000000	0.05858	0.987000	0.45799	0.976000	0.68499	-0.342000	0.07801	0.522000	0.28464	0.551000	0.68910	GAA	ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	C	XM_046861		95609151	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	missense	SNP	0.909	T	T	95609151	C	T	95609151	3	4	180	1	0	0	0	0	1	0	0	0	17967	835	29	1	644	1	ZNF484	9	95609151	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	127400	95609151	45604280	140	33663										
NCBP1	4686	genome.wustl.edu	37	chr9	100418318	100418318	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	attgtcttagtcaagatcctGaaagtcccaaaccgaagttt	7	9	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:100418318G>A	ENST00000375147.3	+	14	1580	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	442					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TCAAGATCCTGAAAGTCCCAA	0.333																																					Ovarian(36;879 898 2893 44212 50307)												0													111	112	112					9																	100418318		2203	4300	6503	SO:0001583	missense	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1324G>A	9.37:g.100418318G>A	ENSP00000364289:p.Glu442Lys		B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E442K	ENST00000375147.3	37	c.1324	CCDS6728.1	9	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800720	0.70567	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.7	5.7	0.88788	MIF4G-like, type 1 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.152155	0.64402	D	0.000020	T	0.57403	0.2051	L	0.32530	0.975	0.80722	D	1	B	0.17465	0.022	B	0.29440	0.102	T	0.48703	-0.9012	9	0.29301	T	0.29	-12.2592	19.8195	0.96586	0.0:0.0:1.0:0.0	.	442	Q09161	NCBP1_HUMAN	K	442	.	ENSP00000364289:E442K	E	+	1	0	NCBP1	99458139	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.456000	0.80751	2.861000	0.98227	0.655000	0.94253	GAA	NCBP1	-	pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold		0.333	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	G	NM_002486		100418318	1	no_errors	ENST00000375147	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100418318	G	A	100418318	3	1	180	1	0	0	0	0	1	0	0	0	10235	1291	45	1	1378	1	NCBP1	9	100418318	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4809167	100418318	40795113	141	33664										
AKAP2	11217	genome.wustl.edu	37	chr9	112898781	112898781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggtgcagtggttctggtgggCggcctaagcccccctgtcca	15	13	1	0	rs529639686		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:112898781C>T	ENST00000259318.7	+	2	471	c.264C>T	c.(262-264)ggC>ggT	p.G88G	AKAP2_ENST00000434623.2_Silent_p.G177G|AKAP2_ENST00000374525.1_Silent_p.G177G|AKAP2_ENST00000555236.1_Silent_p.G319G|AKAP2_ENST00000510514.5_Silent_p.G319G|PALM2-AKAP2_ENST00000302798.7_Silent_p.G319G|PALM2-AKAP2_ENST00000374530.3_Silent_p.G319G	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	88										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TTCTGGTGGGCGGCCTAAGCC	0.582													C|||	1	0.000199681	0	0	5008	,	,		18962	0.001		0	False		,,,				2504	0																0													92	74	80					9																	112898781		2203	4300	6503	SO:0001819	synonymous_variant	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.264C>T	9.37:g.112898781C>T			B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.G319	ENST00000259318.7	37	c.957	CCDS48003.1	9																																																																																			PALM2-AKAP2	-	NULL		0.582	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	C	NM_001004065		112898781	1	no_errors	ENST00000374530	ensembl	human	known	70_37	silent	SNP	0.000	T	T	112898781	C	T	112898781	2	4	180	1	0	0	0	0	0	0	0	1	451	755	27	2		2	AKAP2	9	112898781	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	12480463	112898781	28314650	142	33665										
ZBTB6	10773	genome.wustl.edu	37	chr9	125673338	125673338	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	atgtgtcggttgagatttttCttctgtgtaaatgtttttcc	9	5	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:125673338C>A	ENST00000373659.3	-	2	1102	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TGAGATTTTTCTTCTGTGTAA	0.438																																																	0													77	81	80					9																	125673338		2203	4300	6503	SO:0001583	missense	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16764	protein-coding gene	gene with protein product		605976	"zinc finger protein 482"	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.1014G>T	9.37:g.125673338C>A	ENSP00000362763:p.Lys338Asn		A8K8N6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K338N	ENST00000373659.3	37	c.1014	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934001	0.52866	.	.	ENSG00000186130	ENST00000373659	T	0.16597	2.33	5.87	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.28400	0.85	0.41260	D	0.986777	D	0.69078	0.997	P	0.60789	0.879	T	0.03121	-1.1070	10	0.25751	T	0.34	.	10.6248	0.45502	0.0:0.8384:0.0:0.1616	.	338	Q15916	ZBTB6_HUMAN	N	338	ENSP00000362763:K338N	ENSP00000362763:K338N	K	-	3	2	ZBTB6	124713159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.338000	0.33873	1.616000	0.50265	0.655000	0.94253	AAG	ZBTB6	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	C	NM_006626		125673338	-1	no_errors	ENST00000373659	ensembl	human	known	70_37	missense	SNP	1.000	A	A	125673338	C	A	125673338	3	1	180	1	0	0	0	0	1	0	0	0	17582	912	32	3	264	3	ZBTB6	9	125673338	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	12774557	125673338	15540093	143	33666										
SLC2A8	29988	genome.wustl.edu	37	chr9	130164919	130164919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttctcatgtgcttcatgcccGagaccccgcgcttcctgctg	9	16	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:130164919G>A	ENST00000373371.3	+	5	699	c.610G>A	c.(610-612)Gag>Aag	p.E204K	SLC2A8_ENST00000373352.1_Intron|SLC2A8_ENST00000373360.3_Missense_Mutation_p.E204K	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	204					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CTTCATGCCCGAGACCCCGCG	0.706																																																	0																																										SO:0001583	missense	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.610G>A	9.37:g.130164919G>A	ENSP00000362469:p.Glu204Lys		Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.E204K	ENST00000373371.3	37	c.610	CCDS6870.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.163908	0.94727	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000419917;ENST00000373360;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	T;T;T;T;T;T;T	0.81330	-0.28;-1.48;-0.28;-0.28;-1.48;-1.48;-1.48	4.85	4.85	0.62838	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93717	0.7029	10	0.87932	D	0	.	16.7714	0.85538	0.0:0.0:1.0:0.0	.	204;204	Q5VVV9;Q9NY64	.;GTR8_HUMAN	K	204;41;135;204;69;69;69;43	ENSP00000362469:E204K;ENSP00000392434:E41K;ENSP00000411726:E135K;ENSP00000362458:E204K;ENSP00000404893:E69K;ENSP00000389070:E69K;ENSP00000391213:E43K	ENSP00000362448:E69K	E	+	1	0	SLC2A8	129204740	1.000000	0.71417	0.992000	0.48379	0.818000	0.46254	7.155000	0.77445	2.250000	0.74265	0.563000	0.77884	GAG	SLC2A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.706	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A8	HGNC	protein_coding	OTTHUMT00000054177.1	G	NM_014580		130164919	1	no_errors	ENST00000373371	ensembl	human	known	70_37	missense	SNP	0.999	A	A	130164919	G	A	130164919	3	1	180	1	0	0	0	0	1	0	0	0	14581	1059	37	1	628	1	SLC2A8	9	130164919	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4491581	130164919	11048512	144	33667										
TRUB2	26995	genome.wustl.edu	37	chr9	131079472	131079472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	catccaaccgatgtcccacgCcaaccttgagatgggcgaat	9	14	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:131079472C>T	ENST00000372890.4	-	3	608	c.275G>A	c.(274-276)gGc>gAc	p.G92D	RP11-339B21.13_ENST00000609315.1_RNA|TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Missense_Mutation_p.G36D	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	92					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ATGTCCCACGCCAACCTTGAG	0.507																																																	0													65	54	58					9																	131079472		2203	4300	6503	SO:0001583	missense	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.275G>A	9.37:g.131079472C>T	ENSP00000361982:p.Gly92Asp		B7Z7G5	Missense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom	p.G92D	ENST00000372890.4	37	c.275	CCDS6897.1	9	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962171	0.53400	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.77098	-1.07;-1.07	5.5	4.6	0.57074	Pseudouridine synthase, catalytic domain (1);	0.050955	0.85682	D	0.000000	D	0.90249	0.6951	M	0.93150	3.385	0.58432	D	0.999998	D	0.67145	0.996	D	0.66351	0.943	D	0.92794	0.6251	10	0.87932	D	0	-11.9975	15.2253	0.73345	0.0:0.8583:0.1417:0.0	.	92	O95900	TRUB2_HUMAN	D	92;36	ENSP00000361982:G92D;ENSP00000438084:G36D	ENSP00000361982:G92D	G	-	2	0	TRUB2	130119293	1.000000	0.71417	0.893000	0.35052	0.157000	0.22087	5.784000	0.68990	1.304000	0.44892	-0.414000	0.06135	GGC	TRUB2	-	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom		0.507	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB2	HGNC	protein_coding	OTTHUMT00000054419.1	C	NM_015679		131079472	-1	no_errors	ENST00000372890	ensembl	human	known	70_37	missense	SNP	0.995	T	T	131079472	C	T	131079472	3	4	180	1	0	0	0	0	1	0	0	0	16634	739	26	4	744	4	TRUB2	9	131079472	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	914553	131079472	10133959	145	33668										
C9orf171	389799	genome.wustl.edu	37	chr9	135357739	135357739	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaacctcttattctgtttatGactcctcagcggtgcagaaa	8	10	3	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:135357739G>C	ENST00000343036.2	+	2	286	c.238G>C	c.(238-240)Gac>Cac	p.D80H	C9orf171_ENST00000393215.3_Intron|C9orf171_ENST00000393216.2_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	80										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TTCTGTTTATGACTCCTCAGC	0.498																																																	0													103	96	99					9																	135357739		2203	4300	6503	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.238G>C	9.37:g.135357739G>C	ENSP00000343290:p.Asp80His		Q147X1	Missense_Mutation	SNP	NULL	p.D80H	ENST00000343036.2	37	c.238	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	G	5.293	0.239429	0.10023	.	.	ENSG00000188523	ENST00000343036	T	0.25250	1.81	3.65	-6.82	0.01698	.	1.886540	0.02908	N	0.136333	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.18263	0.021	T	0.17228	-1.0376	10	0.14656	T	0.56	.	1.7377	0.02945	0.2295:0.2007:0.4089:0.1609	.	80	Q6ZQR2	CI171_HUMAN	H	80	ENSP00000343290:D80H	ENSP00000343290:D80H	D	+	1	0	C9orf171	134347560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.351000	0.02622	-0.995000	0.03459	-0.136000	0.14681	GAC	C9orf171	-	NULL		0.498	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	G	NM_207417		135357739	1	no_errors	ENST00000343036	ensembl	human	known	70_37	missense	SNP	0.000	C	C	135357739	G	C	135357739	3	2	180	1	0	0	0	0	1	0	0	0	2475	1290	45	1	244	1	C9orf171	9	135357739	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4278267	135357739	5855692	146	33669										
RALGDS	5900	genome.wustl.edu	37	chr9	135984132	135984132	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtgggcacggcgctccaggtCtgagcctggcatgttgagct	16	11	1	2	rs374152758		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:135984132C>T	ENST00000372050.3	-	5	727	c.706G>A	c.(706-708)Gac>Aac	p.D236N	RALGDS_ENST00000372047.3_Missense_Mutation_p.D224N|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393160.3_Missense_Mutation_p.D181N|RALGDS_ENST00000393157.3_Missense_Mutation_p.D235N|RALGDS_ENST00000372062.3_Missense_Mutation_p.D207N|RALGDS_ENST00000542690.1_Missense_Mutation_p.D307N	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	236	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CGCTCCAGGTCTGAGCCTGGC	0.632			T	CIITA	"PMBL, Hodgkin Lymphona, "								C|||	1	0.000199681	8e-04	0	5008	,	,		18715	0		0	False		,,,				2504	0				Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0								C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	83	73	76		541,706	3.8	0.7	9		76	0,8600		0,0,4300	no	missense,missense	RALGDS	NM_001042368.1,NM_006266.2	23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	181/860,236/915	135984132	1,13005	2203	4300	6503	SO:0001583	missense	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.706G>A	9.37:g.135984132C>T	ENSP00000361120:p.Asp236Asn		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D307N	ENST00000372050.3	37	c.919	CCDS6959.1	9	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899037	0.91962	2.27E-4	0.0	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.67	3.84	0.44239	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.077636	0.53938	N	0.000041	T	0.49626	0.1568	M	0.68952	2.095	0.39168	D	0.962546	D;B;B;B;B;B;B;B	0.57257	0.979;0.028;0.169;0.028;0.013;0.013;0.013;0.013	D;B;B;B;B;B;B;B	0.66716	0.946;0.027;0.091;0.014;0.007;0.007;0.007;0.007	T	0.51498	-0.8698	10	0.52906	T	0.07	.	11.1796	0.48620	0.0:0.8529:0.0:0.1471	.	307;207;236;224;181;235;224;236	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	N	236;224;181;5;235;307;207	ENSP00000361120:D236N;ENSP00000361117:D224N;ENSP00000376867:D181N;ENSP00000376864:D235N;ENSP00000437518:D307N;ENSP00000361132:D207N	ENSP00000361117:D224N	D	-	1	0	RALGDS	134973953	1.000000	0.71417	0.727000	0.30756	0.998000	0.95712	7.753000	0.85153	0.769000	0.33313	0.655000	0.94253	GAC	RALGDS	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.632	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	C	NM_006266		135984132	-1	no_errors	ENST00000542690	ensembl	human	known	70_37	missense	SNP	0.997	T	T	135984132	C	T	135984132	3	4	180	1	0	0	0	0	1	0	0	0	13046	913	32	1	2094	1	RALGDS	9	135984132	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	626393	135984132	5229299	147	33670										
DNLZ	728489	genome.wustl.edu	37	chr9	139257548	139257548	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccttggtgataggccagcttGgagatgcgcttggaggacct	15	9	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:139257548G>C	ENST00000371738.3	-	2	335	c.261C>G	c.(259-261)tcC>tcG	p.S87S	CARD9_ENST00000460290.1_5'Flank|DNLZ_ENST00000371739.3_Intron	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	87						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		AGGCCAGCTTGGAGATGCGCT	0.642																																																	0													119	104	109					9																	139257548		2203	4300	6503	SO:0001819	synonymous_variant	728489			AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"Zinc fingers"	33879	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 15 homolog (yeast)", "HSP70 escort protein"		"chromosome 9 open reading frame 151"	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.261C>G	9.37:g.139257548G>C			B2RUX5|B9EJE1	Silent	SNP	pfam_Znf_DNL-typ	p.S87	ENST00000371738.3	37	c.261	CCDS35179.1	9																																																																																			DNLZ	-	pfam_Znf_DNL-typ		0.642	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNLZ	HGNC	protein_coding	OTTHUMT00000055075.2	G	NM_001080849		139257548	-1	no_errors	ENST00000371738	ensembl	human	known	70_37	silent	SNP	1.000	C	C	139257548	G	C	139257548	2	2	180	1	0	0	0	0	0	0	0	1	4679	1335	47	4		4	DNLZ	9	139257548	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3273416	139257548	1955883	148	33671										
NOTCH1	4851	genome.wustl.edu	37	chr9	139402806	139402806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agcatttgccgccgttcttgCagggcgaggagtcacaccag	13	12	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:139402806C>T	ENST00000277541.6	-	20	3278	c.3203G>A	c.(3202-3204)tGc>tAc	p.C1068Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1068	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGTTCTTGCAGGGCGAGGA	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													94	114	107					9																	139402806		2102	4215	6317	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3203G>A	9.37:g.139402806C>T	ENSP00000277541:p.Cys1068Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C1068Y	ENST00000277541.6	37	c.3203	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296083	0.81025	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	5.13	5.13	0.70059	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99991	1.4316	10	0.87932	D	0	.	17.568	0.87926	0.0:1.0:0.0:0.0	.	1068	P46531	NOTC1_HUMAN	Y	1068	ENSP00000277541:C1068Y	ENSP00000277541:C1068Y	C	-	2	0	NOTCH1	138522627	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	7.391000	0.79828	2.382000	0.81193	0.655000	0.94253	TGC	NOTCH1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139402806	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	139402806	C	T	139402806	3	4	180	1	0	0	0	0	1	0	0	0	10571	710	25	4	4524	4	NOTCH1	9	139402806	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	145258	139402806	1810625	149	33672										
GRIN1	2902	genome.wustl.edu	37	chr9	140033986	140033986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gccctgctgttctcctgctcCgtcgcccgtgccgcgtgcga	12	18	1	0	rs201816843		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:140033986C>T	ENST00000371561.3	+	1	1145	c.48C>T	c.(46-48)tcC>tcT	p.S16S	GRIN1_ENST00000371553.3_Silent_p.S16S|GRIN1_ENST00000371560.3_Silent_p.S16S|GRIN1_ENST00000350902.5_Silent_p.S16S|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Silent_p.S16S|GRIN1_ENST00000371559.4_Silent_p.S16S|GRIN1_ENST00000371555.4_Silent_p.S16S|GRIN1_ENST00000371546.4_Silent_p.S16S|GRIN1_ENST00000371550.4_Silent_p.S16S	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	16					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTCCTGCTCCGTCGCCCGTG	0.716																																					NSCLC(113;717 1653 2089 20474 37618)												0													26	22	23					9																	140033986		2203	4298	6501	SO:0001819	synonymous_variant	2902				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.48C>T	9.37:g.140033986C>T			A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S16	ENST00000371561.3	37	c.48	CCDS7031.1	9																																																																																			GRIN1	-	NULL		0.716	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	C	NM_007327		140033986	1	no_errors	ENST00000371561	ensembl	human	known	70_37	silent	SNP	0.996	T	T	140033986	C	T	140033986	2	4	180	1	0	0	0	0	0	0	0	1	6798	639	23	2		2	GRIN1	9	140033986	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	631180	140033986	1179445	150	33673										
SLC34A3	142680	genome.wustl.edu	37	chr9	140128914	140128914	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggcggctacctggccgtcctCgcgggcgccggcctgacctt	15	17	0	1	rs113568956	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:140128914C>T	ENST00000538474.1	+	11	1364	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	SLC34A3_ENST00000361134.2_Silent_p.L380L	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	380					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCCGTCCTCGCGGGCGCCG	0.716													C|||	8	0.00159744	8e-04	0	5008	,	,		10094	0		0.007	False		,,,				2504	0																0								C	,,	1,4237		0,1,2118	8	11	10		1140,1140,1140	-6.8	0.3	9	dbSNP_132	10	36,8338		0,36,4151	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A3	NM_001177316.1,NM_001177317.1,NM_080877.2	,,	0,37,6269	TT,TC,CC		0.4299,0.0236,0.2934	,,	380/600,380/600,380/600	140128914	37,12575	2119	4187	6306	SO:0001819	synonymous_variant	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1140C>T	9.37:g.140128914C>T			A2BFA1	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.L380	ENST00000538474.1	37	c.1140	CCDS7038.1	9																																																																																			SLC34A3	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A3	HGNC	protein_coding	OTTHUMT00000254712.1	C	NM_080877		140128914	1	no_errors	ENST00000361134	ensembl	human	known	70_37	silent	SNP	0.749	T	T	140128914	C	T	140128914	2	4	180	1	0	0	0	0	0	0	0	1	14599	871	31	1		1	SLC34A3	9	140128914	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	94928	140128914	1084517	151	33674										
NRARP	441478	genome.wustl.edu	37	chr9	140196233	140196233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtgcagcgccgtctggccctCgggcccgaacgagttcacgt	14	15	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:140196233C>T	ENST00000356628.2	-	1	470	c.148G>A	c.(148-150)Gag>Aag	p.E50K		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	50					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)			p.E50*(1)		lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		GTCTGGCCCTCGGGCCCGAAC	0.637																																																	1	Substitution - Nonsense(1)	lung(1)											49	38	42					9																	140196233		2202	4298	6500	SO:0001583	missense	441478				CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"Ankyrin repeat domain containing"	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.148G>A	9.37:g.140196233C>T	ENSP00000349041:p.Glu50Lys		B8A4K5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E50K	ENST00000356628.2	37	c.148	CCDS35188.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.204494	0.95033	.	.	ENSG00000198435	ENST00000356628	T	0.33865	1.39	3.3	3.3	0.37823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.23649	0.0572	N	0.16368	0.405	0.58432	D	0.999991	D	0.62365	0.991	B	0.42653	0.394	T	0.09662	-1.0664	10	0.62326	D	0.03	.	12.1536	0.54064	0.0:1.0:0.0:0.0	.	50	Q7Z6K4	NRARP_HUMAN	K	50	ENSP00000349041:E50K	ENSP00000349041:E50K	E	-	1	0	NRARP	139316054	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	5.902000	0.69869	1.699000	0.51192	0.435000	0.28638	GAG	NRARP	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.637	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRARP	HGNC	protein_coding	OTTHUMT00000343196.1	C	NM_001004354		140196233	-1	no_errors	ENST00000356628	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140196233	C	T	140196233	3	4	180	1	0	0	0	0	1	0	0	0	10663	893	31	1	200	1	NRARP	9	140196233	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	67319	140196233	1017198	152	33675										
NRARP	441478	genome.wustl.edu	37	chr9	140196260	140196260	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaacgagttcacgttgaactCgcagttggtcatgttctgca	11	9	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr9:140196260C>G	ENST00000356628.2	-	1	443	c.121G>C	c.(121-123)Gag>Cag	p.E41Q		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	41					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		ACGTTGAACTCGCAGTTGGTC	0.642																																																	0													58	45	49					9																	140196260		2203	4300	6503	SO:0001583	missense	441478				CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"Ankyrin repeat domain containing"	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.121G>C	9.37:g.140196260C>G	ENSP00000349041:p.Glu41Gln		B8A4K5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E41Q	ENST00000356628.2	37	c.121	CCDS35188.1	9	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288279	0.80803	.	.	ENSG00000198435	ENST00000356628	T	0.34859	1.34	3.3	3.3	0.37823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.24275	0.0588	L	0.34521	1.04	0.46901	D	0.999243	B	0.32620	0.378	B	0.25987	0.065	T	0.07252	-1.0782	10	0.28530	T	0.3	.	12.1536	0.54064	0.0:1.0:0.0:0.0	.	41	Q7Z6K4	NRARP_HUMAN	Q	41	ENSP00000349041:E41Q	ENSP00000349041:E41Q	E	-	1	0	NRARP	139316081	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.272000	0.58908	1.699000	0.51192	0.435000	0.28638	GAG	NRARP	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.642	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRARP	HGNC	protein_coding	OTTHUMT00000343196.1	C	NM_001004354		140196260	-1	no_errors	ENST00000356628	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140196260	C	G	140196260	3	3	180	1	0	0	0	0	1	0	0	0	10663	893	31	1	227	1	NRARP	9	140196260	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	27	140196260	1017171	153	33676										
CUBN	8029	genome.wustl.edu	37	chr10	16981092	16981092	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tatgtgggtagttttcaggcCagaaaggagaggcgactttc	14	6	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:16981092C>T	ENST00000377833.4	-	38	5668	c.5603G>A	c.(5602-5604)tGg>tAg	p.W1868*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1868	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTTTCAGGCCAGAAAGGAGA	0.418																																																	0													150	136	141					10																	16981092		2203	4300	6503	SO:0001587	stop_gained	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5603G>A	10.37:g.16981092C>T	ENSP00000367064:p.Trp1868*		B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.W1868*	ENST00000377833.4	37	c.5603	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	46	12.657010	0.99686	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.12	5.12	0.69794	.	0.000000	0.41500	D	0.000865	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9012	0.92443	0.0:1.0:0.0:0.0	.	.	.	.	X	1868	.	ENSP00000367064:W1868X	W	-	2	0	CUBN	17021098	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.089000	0.57685	2.541000	0.85698	0.585000	0.79938	TGG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16981092	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	16981092	C	T	16981092	4	4	180	1	0	0	0	0	0	1	0	0	4056	595	21	4	5388	4	CUBN	10	16981092	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		16981092	118553655	154	33677										
ARMC4	55130	genome.wustl.edu	37	chr10	28273115	28273115	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cctgagaaaacatcaaacctGaggtatattcaatagattcc	6	9	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:28273115G>C	ENST00000305242.5	-	5	772	c.680C>G	c.(679-681)tCa>tGa	p.S227*	ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000239715.3_Nonsense_Mutation_p.S84*|ARMC4_ENST00000537576.1_5'Flank|ARMC4_ENST00000545014.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	227					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CATCAAACCTGAGGTATATTC	0.328																																																	0													155	158	157					10																	28273115		2202	4300	6502	SO:0001587	stop_gained	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.680C>G	10.37:g.28273115G>C	ENSP00000306410:p.Ser227*		A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.S227*	ENST00000305242.5	37	c.680	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.105614	0.97286	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	.	.	.	5.37	4.45	0.53987	.	0.138558	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-2.8347	8.7143	0.34401	0.0771:0.0:0.6786:0.2442	.	.	.	.	X	227;121;84	.	ENSP00000239715:S84X	S	-	2	0	ARMC4	28313121	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.571000	0.60879	2.659000	0.90383	0.655000	0.94253	TCA	ARMC4	-	NULL		0.328	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	G	NM_018076		28273115	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	28273115	G	C	28273115	4	2	180	1	0	0	0	0	0	1	0	0	954	1294	45	1	2518	1	ARMC4	10	28273115	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	11292023	28273115	107261632	155	33678										
PARD3	56288	genome.wustl.edu	37	chr10	34620159	34620159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gattatccgcggccgtggacGatggaaaggaatatccccat	12	10	0	0	rs566752362		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:34620159G>A	ENST00000374789.3	-	19	3053	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C	PARD3_ENST00000374794.3_Missense_Mutation_p.R835C|PARD3_ENST00000350537.4_Missense_Mutation_p.R864C|PARD3_ENST00000374776.1_Missense_Mutation_p.R864C|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000545260.1_Missense_Mutation_p.R820C|PARD3_ENST00000374773.1_Missense_Mutation_p.R877C|PARD3_ENST00000340077.5_Missense_Mutation_p.R907C|PARD3_ENST00000544292.1_Missense_Mutation_p.R623C|PARD3_ENST00000545693.1_Missense_Mutation_p.R894C|PARD3_ENST00000374790.3_Missense_Mutation_p.R850C|PARD3_ENST00000346874.4_Missense_Mutation_p.R910C|PARD3_ENST00000374788.3_Missense_Mutation_p.R907C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	910	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R910C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGCCGTGGACGATGGAAAGGA	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		14480	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											115	101	106					10																	34620159		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2728C>T	10.37:g.34620159G>A	ENSP00000363921:p.Arg910Cys		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R910C	ENST00000374789.3	37	c.2728	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756512	0.89843	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;0.999;0.999;1.0;0.999;0.995;0.991;0.998;0.999;1.0;0.998;1.0;1.0	T	0.68465	-0.5401	10	0.87932	D	0	.	19.8904	0.96928	0.0:0.0:1.0:0.0	.	835;820;864;864;894;910;907;910;850;894;877;907;864;876;623	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	894;820;910;907;910;835;864;850;864;907;877;623	ENSP00000443147:R894C;ENSP00000440857:R820C;ENSP00000363921:R910C;ENSP00000363920:R907C;ENSP00000340591:R910C;ENSP00000363926:R835C;ENSP00000311986:R864C;ENSP00000363922:R850C;ENSP00000363908:R864C;ENSP00000341844:R907C;ENSP00000363905:R877C;ENSP00000444429:R623C	ENSP00000341844:R907C	R	-	1	0	PARD3	34660165	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	3.633000	0.54295	2.697000	0.92050	0.650000	0.86243	CGT	PARD3	-	NULL		0.517	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	G	NM_019619		34620159	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34620159	G	A	34620159	3	1	180	1	0	0	0	0	1	0	0	0	11467	1058	37	1	1405	1	PARD3	10	34620159	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	6347044	34620159	100914588	156	33679										
FRMPD2	143162	genome.wustl.edu	37	chr10	49392824	49392824	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	taaaaagatgtacctggtttGatcgtttttgctttttctgc	8	6	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:49392824G>C	ENST00000374201.3	-	19	2762	c.2460C>G	c.(2458-2460)atC>atG	p.I820M	FRMPD2_ENST00000407470.4_Missense_Mutation_p.I788M|FRMPD2_ENST00000305531.3_Missense_Mutation_p.I795M	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	820	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TACCTGGTTTGATCGTTTTTG	0.348																																																	0													91	87	88					10																	49392824		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2460C>G	10.37:g.49392824G>C	ENSP00000363317:p.Ile820Met		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.I820M	ENST00000374201.3	37	c.2460	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	.	11.46	1.644683	0.29246	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39997	1.05;1.05;1.05	5.1	1.04	0.20106	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.55657	0.1934	M	0.68593	2.085	0.30621	N	0.758489	P;D;P	0.67145	0.875;0.996;0.875	B;D;B	0.70716	0.243;0.97;0.243	T	0.54669	-0.8259	9	0.87932	D	0	.	6.1457	0.20285	0.2369:0.1368:0.6263:0.0	.	795;820;788	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	M	820;795;788	ENSP00000363317:I820M;ENSP00000307079:I795M;ENSP00000384339:I788M	ENSP00000307079:I795M	I	-	3	3	FRMPD2	49062830	1.000000	0.71417	0.941000	0.38009	0.167000	0.22549	2.104000	0.41815	0.260000	0.21731	-0.768000	0.03414	ATC	FRMPD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.348	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	G	NM_152428		49392824	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.997	C	C	49392824	G	C	49392824	3	2	180	1	0	0	0	0	1	0	0	0	6076	1280	45	1	1513	1	FRMPD2	10	49392824	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	14772665	49392824	86141923	157	33680										
SLC18A3	6572	genome.wustl.edu	37	chr10	50819881	50819881	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tacggcgcgcttgggctggcTgtgatcggcgccagctcgtg	17	12	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:50819881T>G	ENST00000374115.3	+	1	1535	c.1095T>G	c.(1093-1095)gcT>gcG	p.A365A	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	365					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TTGGGCTGGCTGTGATCGGCG	0.672																																																	0													32	34	33					10																	50819881		2199	4297	6496	SO:0001819	synonymous_variant	6572			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1095T>G	10.37:g.50819881T>G			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A365	ENST00000374115.3	37	c.1095	CCDS7231.1	10																																																																																			SLC18A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.672	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	T	NM_003055		50819881	1	no_errors	ENST00000374115	ensembl	human	known	70_37	silent	SNP	0.995	G	G	50819881	T	G	50819881	2	3	180	1	0	0	0	0	0	0	0	1	14457	1567	55	5		5	SLC18A3	10	50819881	Silent	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	1427057	50819881	84714866	158	33681										
PCDH15	65217	genome.wustl.edu	37	chr10	55626458	55626458	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtcgtcagttgcaataacttGaaacttgaagtaggatctcc	9	8	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:55626458G>A	ENST00000320301.6	-	27	4055	c.3661C>T	c.(3661-3663)Caa>Taa	p.Q1221*	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Q1184*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Q1221*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.Q1226*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Q1150*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.Q1221*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Q1199*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.Q1228*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.Q1221*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.Q1228*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.Q832*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1221	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAATAACTTGAAACTTGAAG	0.398										HNSCC(58;0.16)																																							0													131	114	120					10																	55626458		2203	4300	6503	SO:0001587	stop_gained	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3661C>T	10.37:g.55626458G>A	ENSP00000322604:p.Gln1221*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1221*	ENST00000320301.6	37	c.3661	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.511111	0.99674	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.929	0.70900	0.0:0.1429:0.8571:0.0	.	.	.	.	X	1228;1226;1221;1221;832;1228;1184;1221;1199;1221;1221;1226;1150	.	ENSP00000322604:Q1221X	Q	-	1	0	PCDH15	55296464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.332000	0.52083	2.681000	0.91329	0.563000	0.77884	CAA	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55626458	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	55626458	G	A	55626458	4	1	180	1	0	0	0	0	0	1	0	0	11535	1299	45	1	3853	1	PCDH15	10	55626458	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4806577	55626458	79908289	159	33682										
TET1	80312	genome.wustl.edu	37	chr10	70404804	70404804	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	accagctgaaacaaatgtttCatttaaaaaattcaatattg	4	6	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:70404804C>T	ENST00000373644.4	+	4	2527	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	773					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACAAATGTTTCATTTAAAAAA	0.318																																																	0													35	36	36					10																	70404804		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2318C>T	10.37:g.70404804C>T	ENSP00000362748:p.Ser773Leu		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.S773L	ENST00000373644.4	37	c.2318	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	8.191	0.796017	0.16327	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.84	4.93	0.64822	.	0.885835	0.09726	N	0.763813	T	0.06826	0.0174	L	0.29908	0.895	0.09310	N	1	B	0.32918	0.39	B	0.27380	0.079	T	0.36962	-0.9726	10	0.22109	T	0.4	.	9.7902	0.40702	0.0:0.7861:0.1409:0.073	.	773	Q8NFU7	TET1_HUMAN	L	773	ENSP00000362748:S773L	ENSP00000362748:S773L	S	+	2	0	TET1	70074810	0.153000	0.22777	0.013000	0.15412	0.401000	0.30781	2.407000	0.44565	1.472000	0.48140	0.650000	0.86243	TCA	TET1	-	NULL		0.318	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70404804	1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.047	T	T	70404804	C	T	70404804	3	4	180	1	0	0	0	0	1	0	0	0	15799	838	29	1	2328	1	TET1	10	70404804	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	14778346	70404804	65129943	160	33683										
TET1	80312	genome.wustl.edu	37	chr10	70406339	70406339	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgataaagcttataattctCaggtacagttaacggtgaat	8	6	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:70406339C>G	ENST00000373644.4	+	4	4062	c.3853C>G	c.(3853-3855)Cag>Gag	p.Q1285E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1285					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTATAATTCTCAGGTACAGTT	0.458																																																	0													99	90	93					10																	70406339		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3853C>G	10.37:g.70406339C>G	ENSP00000362748:p.Gln1285Glu		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.Q1285E	ENST00000373644.4	37	c.3853	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199360	0.58126	.	.	ENSG00000138336	ENST00000373644	T	0.10099	2.91	5.25	3.37	0.38596	.	1.277380	0.05588	N	0.574131	T	0.10809	0.0264	L	0.29908	0.895	0.28291	N	0.923545	P	0.48764	0.915	B	0.40940	0.344	T	0.29882	-0.9997	10	0.56958	D	0.05	.	10.2522	0.43375	0.0:0.8431:0.0:0.1569	.	1285	Q8NFU7	TET1_HUMAN	E	1285	ENSP00000362748:Q1285E	ENSP00000362748:Q1285E	Q	+	1	0	TET1	70076345	0.867000	0.29959	1.000000	0.80357	0.893000	0.52053	1.661000	0.37408	1.195000	0.43115	0.563000	0.77884	CAG	TET1	-	NULL		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70406339	1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	1.000	G	G	70406339	C	G	70406339	3	3	180	1	0	0	0	0	1	0	0	0	15799	827	29	1	3863	1	TET1	10	70406339	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	1535	70406339	65128408	161	33684										
NODAL	4838	genome.wustl.edu	37	chr10	72195234	72195234	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aagtgatgtcgacggtgcctCttgccccactcccaggacag	11	14	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:72195234C>T	ENST00000287139.3	-	2	698	c.699G>A	c.(697-699)aaG>aaA	p.K233K	AC022532.1_ENST00000420338.2_Missense_Mutation_p.L61F	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	233					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GACGGTGCCTCTTGCCCCACT	0.612																																																	0													85	78	80					10																	72195234		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"nodal, mouse, homolog", "nodal homolog (mouse)"			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.699G>A	10.37:g.72195234C>T			Q2M3A5|Q8N4V3	Missense_Mutation	SNP	NULL	p.L61F	ENST00000287139.3	37	c.181	CCDS7304.1	10	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925011	0.34002	.	.	ENSG00000197604	ENST00000420338	.	.	.	5.56	2.6	0.31112	.	.	.	.	.	T	0.65821	0.2728	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65660	-0.6114	5	0.87932	D	0	.	9.6399	0.39833	0.0:0.6565:0.2683:0.0752	.	.	.	.	F	61	.	ENSP00000411125:L61F	L	+	1	0	AC022532.1	71865240	0.082000	0.21442	0.325000	0.25375	0.546000	0.35178	0.623000	0.24447	0.350000	0.24002	-0.165000	0.13383	CTT	AC022532.1	-	NULL		0.612	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000197604	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000048511.1	C	NM_018055		72195234	1	no_errors	ENST00000420338	ensembl	human	known	70_37	missense	SNP	0.988	T	T	72195234	C	T	72195234	2	4	180	1	0	0	0	0	0	0	0	1	10542	912	32	1		1	NODAL	10	72195234	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	1788895	72195234	63339513	162	33685										
IDE	3416	genome.wustl.edu	37	chr10	94297221	94297221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gctctagccctcgatattctCgcttgtcttcaggagacttg	9	12	4	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:94297221C>T	ENST00000265986.6	-	2	241	c.185G>A	c.(184-186)cGa>cAa	p.R62Q		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	62					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TCGATATTCTCGCTTGTCTTC	0.413																																																	0													217	193	201					10																	94297221		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.185G>A	10.37:g.94297221C>T	ENSP00000265986:p.Arg62Gln		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.R62Q	ENST00000265986.6	37	c.185	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.125063	0.94429	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.32272	1.46;1.46	5.58	4.68	0.58851	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000001	T	0.50888	0.1642	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54009	-0.8357	10	0.87932	D	0	-4.0524	14.6426	0.68737	0.0:0.9297:0.0:0.0703	.	62	P14735	IDE_HUMAN	Q	62;48	ENSP00000265986:R62Q;ENSP00000408850:R48Q	ENSP00000265986:R62Q	R	-	2	0	IDE	94287201	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.373000	0.79623	1.355000	0.45865	0.655000	0.94253	CGA	IDE	-	superfamily_Metalloenz_metal-bd		0.413	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	C	NM_004969		94297221	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94297221	C	T	94297221	3	4	180	1	0	0	0	0	1	0	0	0	7513	884	31	1	2970	1	IDE	10	94297221	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	22101987	94297221	41237526	163	33686										
HELLS	3070	genome.wustl.edu	37	chr10	96356854	96356854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tctagagttgttgttagatcGaagtgatcttattggtaagt	11	3	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:96356854G>A	ENST00000348459.5	+	21	2513	c.2408G>A	c.(2407-2409)cGa>cAa	p.R803Q	HELLS_ENST00000394045.1_Missense_Mutation_p.R705Q|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.R849Q|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGTTAGATCGAAGTGATCTT	0.299																																																	0													135	132	133					10																	96356854		2203	4298	6501	SO:0001583	missense	3070			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2408G>A	10.37:g.96356854G>A	ENSP00000239027:p.Arg803Gln			Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R849Q	ENST00000348459.5	37	c.2546	CCDS7434.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.396290	0.96009	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	D;D;D;D	0.92805	-2.89;-2.58;-3.11;-1.98	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.995;1.0;0.996;0.999	D	0.96226	0.9164	10	0.87932	D	0	-8.3558	19.5289	0.95219	0.0:0.0:1.0:0.0	.	787;774;673;705;803	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	Q	803;705;849;240	ENSP00000239027:R803Q;ENSP00000377609:R705Q;ENSP00000360383:R849Q;ENSP00000360378:R240Q	ENSP00000239027:R803Q	R	+	2	0	HELLS	96346844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.157000	0.94714	2.865000	0.98341	0.655000	0.94253	CGA	HELLS	-	NULL		0.299	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1	G	NM_018063		96356854	1	no_errors	ENST00000371332	ensembl	human	known	70_37	missense	SNP	1.000	A	A	96356854	G	A	96356854	3	1	180	1	0	0	0	0	1	0	0	0	7066	1058	37	1	2490	1	HELLS	10	96356854	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2059633	96356854	39177893	164	33687										
CCNJ	54619	genome.wustl.edu	37	chr10	97816696	97816696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggctggccaatgatttgcttGgaaaagactaaactctacat	9	8	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:97816696G>A	ENST00000265992.5	+	4	886	c.519G>A	c.(517-519)ttG>ttA	p.L173L	CCNJ_ENST00000534974.1_Silent_p.L173L|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000403870.3_Silent_p.L173L|CCNJ_ENST00000465148.2_Silent_p.L173L|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	173						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TGATTTGCTTGGAAAAGACTA	0.438																																																	0													85	83	84					10																	97816696		2203	4300	6503	SO:0001819	synonymous_variant	54619			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.519G>A	10.37:g.97816696G>A			B7Z4E7|Q86XL1|Q9NV69	Silent	SNP	pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.L173	ENST00000265992.5	37	c.519	CCDS7445.1	10																																																																																			CCNJ	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like		0.438	CCNJ-003	KNOWN	basic|CCDS	protein_coding	CCNJ	HGNC	protein_coding	OTTHUMT00000090166.3	G	NM_019084		97816696	1	no_errors	ENST00000419934	ensembl	human	known	70_37	silent	SNP	1.000	A	A	97816696	G	A	97816696	2	1	180	1	0	0	0	0	0	0	0	1	2933	1339	47	4		4	CCNJ	10	97816696	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1459842	97816696	37718051	165	33688										
HIF1AN	55662	genome.wustl.edu	37	chr10	102296378	102296378	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgaaatttcatgagttcgttGagaaactgcaggatatacag	10	5	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:102296378G>A	ENST00000299163.6	+	2	488	c.388G>A	c.(388-390)Gag>Aag	p.E130K	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	130					cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TGAGTTCGTTGAGAAACTGCA	0.408																																																	0													82	85	84					10																	102296378		2203	4300	6503	SO:0001583	missense	55662			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"Peptide-aspartate beta-dioxygenase"	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.388G>A	10.37:g.102296378G>A	ENSP00000299163:p.Glu130Lys		D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E130K	ENST00000299163.6	37	c.388	CCDS7498.1	10	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289836	0.40494	.	.	ENSG00000166135	ENST00000533589;ENST00000299163;ENST00000442724	T;T	0.72051	-0.62;-0.62	5.6	4.7	0.59300	.	1.175370	0.06500	U	0.736230	T	0.61022	0.2314	L	0.31752	0.955	0.39981	D	0.974914	B	0.06786	0.001	B	0.04013	0.001	T	0.40905	-0.9538	10	0.28530	T	0.3	-20.2428	10.0498	0.42208	0.0715:0.1387:0.7898:0.0	.	130	Q9NWT6	HIF1N_HUMAN	K	23;130;163	ENSP00000433360:E23K;ENSP00000299163:E130K	ENSP00000299163:E130K	E	+	1	0	HIF1AN	102286368	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	6.476000	0.73587	1.366000	0.46076	-0.172000	0.13284	GAG	HIF1AN	-	NULL		0.408	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIF1AN	HGNC	protein_coding	OTTHUMT00000049865.5	G	NM_017902		102296378	1	no_errors	ENST00000299163	ensembl	human	known	70_37	missense	SNP	0.994	A	A	102296378	G	A	102296378	3	1	180	1	0	0	0	0	1	0	0	0	7124	1291	45	1	394	1	HIF1AN	10	102296378	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4479682	102296378	33238369	166	33689										
NEURL	9148	genome.wustl.edu	37	chr10	105330768	105330768	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	accaagggctcccagatcctCatggacctcagccacaaggc	9	16	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:105330768C>T	ENST00000369780.4	+	2	634	c.225C>T	c.(223-225)ctC>ctT	p.L75L	NEURL_ENST00000369777.2_Silent_p.L58L	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		75	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCCAGATCCTCATGGACCTCA	0.642																																																	0													72	70	70					10																	105330768		2203	4300	6503	SO:0001819	synonymous_variant	9148																														ENST00000369780.4:c.225C>T	10.37:g.105330768C>T			Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.L75	ENST00000369780.4	37	c.225	CCDS7551.1	10																																																																																			NEURL	-	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z		0.642	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL	HGNC	protein_coding	OTTHUMT00000050170.1	C			105330768	1	no_errors	ENST00000369780	ensembl	human	known	70_37	silent	SNP	1.000	T	T	105330768	C	T	105330768	2	4	180	1	0	0	0	0	0	0	0	1	10369	813	29	1		1	NEURL	10	105330768	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3034390	105330768	30203979	167	33690										
RGS10	6001	genome.wustl.edu	37	chr10	121285616	121285617	+	Frame_Shift_Ins	INS	-	-	T													0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cattttcttcactgaattccINSttttttaaaaattcctgtgg							TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr10:121285616_121285617insT	ENST00000369101.3	-	2	185_186	c.158_159insA	c.(157-159)aagfs	p.K53fs	RGS10_ENST00000392865.1_Frame_Shift_Ins_p.K47fs|RGS10_ENST00000469575.1_5'Flank|RGS10_ENST00000369103.2_Frame_Shift_Ins_p.K61fs			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	53	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CACTGAATTCCTTTTTTAAAAA	0.297																																																	0																																										SO:0001589	frameshift_variant	6001			AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"Regulators of G-protein signaling"	9992	protein-coding gene	gene with protein product		602856	"regulator of G-protein signalling 10"			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.159dupA	10.37:g.121285622_121285622dupT	ENSP00000358097:p.Lys53fs		A8K408|B1AMR8|Q6IAZ6|Q96GN0	Frame_Shift_Ins	INS	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E62fs	ENST00000369101.3	37	c.183_182		10																																																																																			RGS10	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.297	RGS10-002	KNOWN	basic	protein_coding	RGS10	HGNC	protein_coding	OTTHUMT00000050655.1	-	NM_002925		121285617	-1	no_errors	ENST00000369103	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	121285617	-	T	121285616	7	5	180	1	0	1	1	0	0	0	0	0	13323	680	24	0	374	0	RGS10	10	121285616	Frame_Shift_Ins	INS	-	TCGA-Q1-A5R2-01A-11D-A28B-09	15954848	121285616	14249131	168	33691										
ART5	116969	genome.wustl.edu	37	chr11	3663063	3663063	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtgtggaggccgaggctgccGagggcgatcatcaaagccgc	17	11	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:3663063G>A	ENST00000397068.3	-	1	422	c.30C>T	c.(28-30)ctC>ctT	p.L10L	ART5_ENST00000397067.3_Silent_p.L10L|ART5_ENST00000359918.4_Silent_p.L10L	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	10					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGAGGCTGCCGAGGGCGATCA	0.657																																																	0													25	25	25					11																	3663063		2186	4269	6455	SO:0001819	synonymous_variant	116969			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.30C>T	11.37:g.3663063G>A			C9IYG7|Q6UX84|Q86W02	Silent	SNP	pfam_ART,prints_ART	p.L10	ENST00000397068.3	37	c.30	CCDS7743.1	11																																																																																			ART5	-	NULL		0.657	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART5	HGNC	protein_coding	OTTHUMT00000032760.2	G	NM_053017		3663063	-1	no_errors	ENST00000359918	ensembl	human	known	70_37	silent	SNP	0.238	A	A	3663063	G	A	3663063	2	1	180	1	0	0	0	0	0	0	0	1	1001	1045	37	1		1	ART5	11	3663063	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		3663063	131343453	169	33692										
CYB5R2	51700	genome.wustl.edu	37	chr11	7686762	7686762	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgtcggcagtaacgaagcctGagctgtacttccagcctgaa	11	11	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:7686762G>A	ENST00000533558.1	-	9	1230	c.674C>T	c.(673-675)tCa>tTa	p.S225L	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.S225L|CYB5R2_ENST00000524790.1_3'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	225					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACGAAGCCTGAGCTGTACTT	0.602											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79	67	71					11																	7686762		2201	4296	6497	SO:0001583	missense	51700			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.674C>T	11.37:g.7686762G>A	ENSP00000437041:p.Ser225Leu	643	Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.S225L	ENST00000533558.1	37	c.674	CCDS7780.1	11	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642241	0.29157	.	.	ENSG00000166394	ENST00000299498;ENST00000533558	D;D	0.86694	-2.16;-2.16	5.8	3.94	0.45596	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.758190	0.12844	N	0.434574	D	0.85084	0.5616	M	0.64676	1.99	0.20196	N	0.999923	B	0.14438	0.01	B	0.27608	0.081	T	0.72297	-0.4335	10	0.27785	T	0.31	-0.2222	9.9572	0.41675	0.1623:0.0:0.8377:0.0	.	225	Q6BCY4	NB5R2_HUMAN	L	225	ENSP00000299498:S225L;ENSP00000437041:S225L	ENSP00000299498:S225L	S	-	2	0	CYB5R2	7643338	0.697000	0.27767	0.927000	0.36925	0.743000	0.42351	1.525000	0.35953	0.808000	0.34231	0.655000	0.94253	TCA	CYB5R2	-	pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase		0.602	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R2	HGNC	protein_coding	OTTHUMT00000385679.1	G	NM_016229		7686762	-1	no_errors	ENST00000299498	ensembl	human	known	70_37	missense	SNP	0.198	A	A	7686762	G	A	7686762	3	1	180	1	0	0	0	0	1	0	0	0	4132	1294	45	1	160	1	CYB5R2	11	7686762	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4023699	7686762	127319754	170	33693										
PTPN5	84867	genome.wustl.edu	37	chr11	18750523	18750523	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agctgcttttcgtagaggctCatgacgtggtgcacaaactg	12	9	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:18750523C>G	ENST00000358540.2	-	15	2086	c.1656G>C	c.(1654-1656)atG>atC	p.M552I	PTPN5_ENST00000396171.4_Missense_Mutation_p.M552I|PTPN5_ENST00000396170.1_Missense_Mutation_p.M520I|IGSF22_ENST00000513874.1_5'Flank|PTPN5_ENST00000396167.2_Missense_Mutation_p.M520I|PTPN5_ENST00000396168.1_Missense_Mutation_p.M528I|PTPN5_ENST00000477854.1_Missense_Mutation_p.M356I|PTPN5_ENST00000396166.3_Missense_Mutation_p.M158I|RP11-1081L13.4_ENST00000527285.1_RNA	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	552	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CGTAGAGGCTCATGACGTGGT	0.617																																																	0													221	171	188					11																	18750523		2199	4293	6492	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1656G>C	11.37:g.18750523C>G	ENSP00000351342:p.Met552Ile		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt	p.M552I	ENST00000358540.2	37	c.1656	CCDS7845.1	11	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355950	0.41700	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396166;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.06	4.06	0.47325	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.064271	0.64402	D	0.000006	T	0.58793	0.2147	N	0.02213	-0.635	0.38870	D	0.956686	B;B	0.31931	0.036;0.347	B;B	0.31495	0.094;0.131	T	0.66152	-0.5995	10	0.45353	T	0.12	.	13.2511	0.60052	0.0:1.0:0.0:0.0	.	552;520	P54829;B3KXG7	PTN5_HUMAN;.	I	356;552;158;520;552;520;528	ENSP00000435056:M356I;ENSP00000351342:M552I;ENSP00000379469:M158I;ENSP00000379473:M520I;ENSP00000379474:M552I;ENSP00000379470:M520I;ENSP00000379471:M528I	ENSP00000351342:M552I	M	-	3	0	PTPN5	18707099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.994000	0.29693	2.103000	0.63969	0.561000	0.74099	ATG	PTPN5	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con		0.617	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	HGNC	protein_coding	OTTHUMT00000259196.2	C	NM_001039970		18750523	-1	no_errors	ENST00000358540	ensembl	human	known	70_37	missense	SNP	1.000	G	G	18750523	C	G	18750523	3	3	180	1	0	0	0	0	1	0	0	0	12821	826	29	1	45	1	PTPN5	11	18750523	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	11063761	18750523	116255993	171	33694										
ZDHHC13	54503	genome.wustl.edu	37	chr11	19192109	19192109	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tttttattattaaatcaactCtttcaggtatttatttctct	2	6	4	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:19192109C>G	ENST00000446113.2	+	15	1747	c.1626C>G	c.(1624-1626)ctC>ctG	p.L542L	ZDHHC13_ENST00000399351.3_Silent_p.L412L	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	542					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.L412L(1)		NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TAAATCAACTCTTTCAGGTAT	0.328																																																	1	Substitution - coding silent(1)	NS(1)											81	73	76					11																	19192109		1741	3980	5721	SO:0001819	synonymous_variant	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1626C>G	11.37:g.19192109C>G			Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.L542	ENST00000446113.2	37	c.1626	CCDS44550.1	11																																																																																			ZDHHC13	-	NULL		0.328	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	HGNC	protein_coding	OTTHUMT00000387821.1	C	NM_019028		19192109	1	no_errors	ENST00000446113	ensembl	human	known	70_37	silent	SNP	1.000	G	G	19192109	C	G	19192109	2	3	180	1	0	0	0	0	0	0	0	1	17633	900	32	1		1	ZDHHC13	11	19192109	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	441586	19192109	115814407	172	33695										
GAS2	2620	genome.wustl.edu	37	chr11	22770758	22770758	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttctccttcaccttctccttCatcaaagtcttctggaaaaa	3	13	7	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:22770758C>T	ENST00000454584.2	+	6	871	c.566C>T	c.(565-567)tCa>tTa	p.S189L	GAS2_ENST00000278187.3_Missense_Mutation_p.S189L|GAS2_ENST00000433790.1_Missense_Mutation_p.S189L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	189					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCTTCTCCTTCATCAAAGTCT	0.398																																																	0													96	96	96					11																	22770758		2203	4300	6503	SO:0001583	missense	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.566C>T	11.37:g.22770758C>T	ENSP00000401145:p.Ser189Leu		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S189L	ENST00000454584.2	37	c.566	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664453	0.29604	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T	0.45668	0.89;0.89;0.92;0.89	5.86	4.0	0.46444	.	0.641538	0.16309	N	0.220075	T	0.28764	0.0713	N	0.22421	0.69	0.35243	D	0.777956	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	9	.	.	.	-4.6776	12.6538	0.56776	0.0:0.8667:0.0:0.1333	.	189	O43903	GAS2_HUMAN	L	189	ENSP00000401145:S189L;ENSP00000278187:S189L;ENSP00000435946:S189L;ENSP00000396708:S189L	.	S	+	2	0	GAS2	22727334	0.998000	0.40836	0.998000	0.56505	0.962000	0.63368	4.046000	0.57376	0.940000	0.37473	0.650000	0.86243	TCA	GAS2	-	NULL		0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1	C	NM_177553		22770758	1	no_errors	ENST00000278187	ensembl	human	known	70_37	missense	SNP	0.986	T	T	22770758	C	T	22770758	3	4	180	1	0	0	0	0	1	0	0	0	6264	838	29	1	584	1	GAS2	11	22770758	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3578649	22770758	112235758	173	33696										
KIF18A	81930	genome.wustl.edu	37	chr11	28056945	28056945	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	taatcataccttgttaatttCcgtttccttttggcagcagt	6	9	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:28056945C>T	ENST00000263181.6	-	15	2783	c.2493G>A	c.(2491-2493)cgG>cgA	p.R831R		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	831					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTGTTAATTTCCGTTTCCTTT	0.328																																																	0													85	77	79					11																	28056945		2200	4299	6499	SO:0001819	synonymous_variant	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2493G>A	11.37:g.28056945C>T			Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R831	ENST00000263181.6	37	c.2493	CCDS7867.1	11																																																																																			KIF18A	-	NULL		0.328	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	C	NM_031217		28056945	-1	no_errors	ENST00000263181	ensembl	human	known	70_37	silent	SNP	1.000	T	T	28056945	C	T	28056945	2	4	180	1	0	0	0	0	0	0	0	1	8300	842	30	1		1	KIF18A	11	28056945	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	5286187	28056945	106949571	174	33697										
PHF21A	51317	genome.wustl.edu	37	chr11	45992865	45992865	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	atggtcgcagttgctgctttCaagacgagaggtagtgtctt	13	7	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:45992865C>T	ENST00000418153.2	-	7	613	c.414G>A	c.(412-414)ttG>ttA	p.L138L	PHF21A_ENST00000323180.6_Silent_p.L138L|PHF21A_ENST00000257821.4_Silent_p.L138L			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	138					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TTGCTGCTTTCAAGACGAGAG	0.473																																																	0													94	88	90					11																	45992865		2202	4299	6501	SO:0001819	synonymous_variant	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.414G>A	11.37:g.45992865C>T			D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L138	ENST00000418153.2	37	c.414	CCDS44578.1	11																																																																																			PHF21A	-	NULL		0.473	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	C	NM_016621		45992865	-1	no_errors	ENST00000257821	ensembl	human	known	70_37	silent	SNP	1.000	T	T	45992865	C	T	45992865	2	4	180	1	0	0	0	0	0	0	0	1	11857	825	29	1		1	PHF21A	11	45992865	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	17935920	45992865	89013651	175	33698										
CNTF	1270	genome.wustl.edu	37	chr11	58391849	58391849	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttggagatggtggtctctttGagaagaagctgtggggccta	16	5	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:58391849G>C	ENST00000361987.4	+	2	537	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	153					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGTCTCTTTGAGAAGAAGCT	0.473																																																	0													107	105	106					11																	58391849		2201	4295	6496	SO:0001583	missense	1270			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.457G>C	11.37:g.58391849G>C	ENSP00000355370:p.Glu153Gln		B2RAB2	Missense_Mutation	SNP	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	p.E153Q	ENST00000361987.4	37	c.457	CCDS31554.1	11	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455784	0.84209	.	.	ENSG00000242689	ENST00000361987	T	0.42900	0.96	5.48	5.48	0.80851	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.63558	0.2521	M	0.69823	2.125	0.38482	D	0.94775	D	0.76494	0.999	D	0.68943	0.961	T	0.68842	-0.5302	9	0.72032	D	0.01	-14.4515	16.2686	0.82603	0.0:0.0:1.0:0.0	.	153	P26441	CNTF_HUMAN	Q	153	ENSP00000355370:E153Q	ENSP00000447778:E153Q	E	+	1	0	CNTF	58148425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.492000	0.60334	2.575000	0.86900	0.650000	0.86243	GAG	CNTF	-	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core		0.473	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTF	HGNC	protein_coding	OTTHUMT00000268673.1	G	NM_000614		58391849	1	no_errors	ENST00000361987	ensembl	human	known	70_37	missense	SNP	1.000	C	C	58391849	G	C	58391849	3	2	180	1	0	0	0	0	1	0	0	0	3642	1291	45	1	463	1	CNTF	11	58391849	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	12398984	58391849	76614667	176	33699										
USP35	57558	genome.wustl.edu	37	chr11	77921400	77921400	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtctccatccccctgctgctCcgcctgccactggctggtgg	11	18	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:77921400C>A	ENST00000529308.1	+	10	2760	c.2499C>A	c.(2497-2499)ctC>ctA	p.L833L	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.L564L|USP35_ENST00000441408.2_Silent_p.L419L|USP35_ENST00000530267.1_Silent_p.L401L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	833	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCCTGCTGCTCCGCCTGCCAC	0.622																																																	0													70	79	76					11																	77921400		2084	4183	6267	SO:0001819	synonymous_variant	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2499C>A	11.37:g.77921400C>A				Silent	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.L833	ENST00000529308.1	37	c.2499	CCDS41693.1	11																																																																																			USP35	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	C	XM_290527		77921400	1	no_errors	ENST00000529308	ensembl	human	known	70_37	silent	SNP	0.679	A	A	77921400	C	A	77921400	2	1	180	1	0	0	0	0	0	0	0	1	17097	842	30	3		3	USP35	11	77921400	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	19529551	77921400	57085116	177	33700										
ODZ4	26011	genome.wustl.edu	37	chr11	78412572	78412572	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gccttgttttagtacttactCataaaatgttgtccatccgt	6	9	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:78412572C>T	ENST00000278550.7	-	28	5548	c.5086G>A	c.(5086-5088)Gag>Aag	p.E1696K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1696					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGTACTTACTCATAAAATGTT	0.373																																																	0													61	59	60					11																	78412572		1904	4115	6019	SO:0001630	splice_region_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5087+1G>A	11.37:g.78412572C>T			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E1696K	ENST00000278550.7	37	c.5086	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175627	0.57692	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90069	-2.61;1.01	5.64	5.64	0.86602	.	0.107105	0.64402	D	0.000007	D	0.89375	0.6697	M	0.82056	2.57	0.58432	D	0.999999	B	0.34015	0.435	B	0.29598	0.104	D	0.87444	0.2397	9	.	.	.	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1696	Q6N022	TEN4_HUMAN	K	1696;160	ENSP00000278550:E1696K;ENSP00000431711:E160K	.	E	-	1	0	ODZ4	78090220	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	5.932000	0.70121	2.937000	0.99478	0.650000	0.86243	GAG	TENM4	-	tigrfam_YD		0.373	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C		Missense_Mutation	78412572	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78412572	C	T	78412572	5	4	180	1	0	0	0	0	0	0	1	0	10861	840	29	1	3251	1	ODZ4	11	78412572	Splice_Site	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	491172	78412572	56593944	178	33701										
SORL1	6653	genome.wustl.edu	37	chr11	121500219	121500219	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctctaggggaagatgatgaaGatgcccctatgataactgga	12	7	1	5			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:121500219G>C	ENST00000260197.7	+	48	6721	c.6592G>C	c.(6592-6594)Gat>Cat	p.D2198H	SORL1_ENST00000525532.1_Missense_Mutation_p.D1142H|SORL1_ENST00000532694.1_Missense_Mutation_p.D1044H|SORL1_ENST00000534286.1_Missense_Mutation_p.D1108H|SORL1_ENST00000527934.1_Missense_Mutation_p.D813H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2198					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATGATGAAGATGCCCCTAT	0.453																																																	0													186	174	178					11																	121500219		2202	4299	6501	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.6592G>C	11.37:g.121500219G>C	ENSP00000260197:p.Asp2198His		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D2198H	ENST00000260197.7	37	c.6592	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385090	0.82792	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.93811	-3.29;-3.02;-2.68;-2.73;-2.63	6.06	6.06	0.98353	.	0.139416	0.49916	D	0.000136	D	0.95576	0.8562	L	0.53249	1.67	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	P;P	0.60789	0.879;0.879	D	0.95307	0.8408	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	813;2198	E9PKB0;Q92673	.;SORL_HUMAN	H	2198;1142;1044;1108;813	ENSP00000260197:D2198H;ENSP00000434634:D1142H;ENSP00000432131:D1044H;ENSP00000436447:D1108H;ENSP00000435405:D813H	ENSP00000260197:D2198H	D	+	1	0	SORL1	121005429	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.192000	0.94947	2.882000	0.98803	0.655000	0.94253	GAT	SORL1	-	NULL		0.453	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121500219	1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121500219	G	C	121500219	3	2	180	1	0	0	0	0	1	0	0	0	14964	942	33	1	6782	1	SORL1	11	121500219	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	43087647	121500219	13506297	179	33702										
FEZ1	9638	genome.wustl.edu	37	chr11	125333410	125333410	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtgagcagaggctcctcgttGataccggaatcattttcact	10	10	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr11:125333410G>C	ENST00000278919.3	-	4	702	c.468C>G	c.(466-468)atC>atG	p.I156M	FEZ1_ENST00000527350.1_Intron	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	156					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GCTCCTCGTTGATACCGGAAT	0.458																																					Melanoma(180;509 2033 10762 15939 24711)												0													180	163	169					11																	125333410		2201	4299	6500	SO:0001583	missense	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.468C>G	11.37:g.125333410G>C	ENSP00000278919:p.Ile156Met		O00679|O00728|Q6IBI7	Missense_Mutation	SNP	pfam_FEZ	p.I156M	ENST00000278919.3	37	c.468	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274940	0.59649	.	.	ENSG00000149557	ENST00000278919	T	0.45668	0.89	4.9	3.76	0.43208	.	0.066225	0.64402	D	0.000013	T	0.45337	0.1337	L	0.55481	1.735	0.80722	D	1	P	0.49307	0.922	P	0.49953	0.627	T	0.46205	-0.9208	10	0.66056	D	0.02	-11.1468	9.5716	0.39431	0.1875:0.0:0.8125:0.0	.	156	Q99689	FEZ1_HUMAN	M	156	ENSP00000278919:I156M	ENSP00000278919:I156M	I	-	3	3	FEZ1	124838620	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.870000	0.39529	2.254000	0.74563	0.561000	0.74099	ATC	FEZ1	-	pfam_FEZ		0.458	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	G	NM_005103		125333410	-1	no_errors	ENST00000278919	ensembl	human	known	70_37	missense	SNP	1.000	C	C	125333410	G	C	125333410	3	2	180	1	0	0	0	0	1	0	0	0	5841	1280	45	1	738	1	FEZ1	11	125333410	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3833191	125333410	9673106	180	33703										
SLC6A13	6540	genome.wustl.edu	37	chr12	344275	344275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cctggggatcccacagacgcGtgaggtttgggtacaggtaa	15	9	0	2	rs142344531		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:344275G>A	ENST00000343164.4	-	7	864	c.812C>T	c.(811-813)aCg>aTg	p.T271M	SLC6A13_ENST00000445055.2_Missense_Mutation_p.T179M	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	271					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCACAGACGCGTGAGGTTTGG	0.567													G|||	1	0.000199681	0	0	5008	,	,		17764	0		0.001	False		,,,				2504	0																0								G	MET/THR,MET/THR	0,4406		0,0,2203	116	105	109		536,812	4.4	0.9	12	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SLC6A13	NM_001190997.2,NM_016615.4	81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	179/511,271/603	344275	2,13004	2203	4300	6503	SO:0001583	missense	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.812C>T	12.37:g.344275G>A	ENSP00000339260:p.Thr271Met		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.T271M	ENST00000343164.4	37	c.812	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151053	0.57151	0.0	2.33E-4	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.74842	-0.88;-0.88	4.37	4.37	0.52481	.	0.433031	0.25500	N	0.030252	D	0.84786	0.5549	M	0.84082	2.675	0.37426	D	0.913841	P;D;D	0.69078	0.936;0.997;0.994	P;P;D	0.63283	0.767;0.866;0.913	D	0.88628	0.3167	10	0.62326	D	0.03	.	13.0553	0.58977	0.0:0.2829:0.7171:0.0	.	179;250;271	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	M	179;250;271	ENSP00000407104:T179M;ENSP00000339260:T271M	ENSP00000318097:T250M	T	-	2	0	SLC6A13	214536	0.988000	0.35896	0.937000	0.37676	0.922000	0.55478	2.295000	0.43576	2.269000	0.75478	0.561000	0.74099	ACG	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.567	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	G	NM_016615		344275	-1	no_errors	ENST00000343164	ensembl	human	known	70_37	missense	SNP	0.954	A	A	344275	G	A	344275	3	1	180	1	0	0	0	0	1	0	0	0	14706	1145	40	2	1032	2	SLC6A13	12	344275	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		344275	133507620	181	33704										
CD27	939	genome.wustl.edu	37	chr12	6559377	6559377	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcaccatcactgccaatgctGagtgtgcctgtcgcaatggc	11	13	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:6559377G>C	ENST00000266557.3	+	3	536	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	CD27-AS1_ENST00000399492.2_RNA|TAPBPL_ENST00000266556.7_5'Flank|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR|TAPBPL_ENST00000544021.1_5'Flank	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	103					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGCCAATGCTGAGTGTGCCTG	0.592																																																	0													143	101	115					12																	6559377		2203	4300	6503	SO:0001583	missense	939			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"Tumor necrosis factor receptor superfamily", "CD molecules"	11922	protein-coding gene	gene with protein product		186711	"tumor necrosis factor receptor superfamily, member 7"	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.307G>C	12.37:g.6559377G>C	ENSP00000266557:p.Glu103Gln		B2RDZ0	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt	p.E103Q	ENST00000266557.3	37	c.307	CCDS8545.1	12	.	.	.	.	.	.	.	.	.	.	G	6.716	0.500830	0.12822	.	.	ENSG00000139193	ENST00000266557	D	0.91237	-2.81	3.87	1.93	0.25924	TNFR/CD27/30/40/95 cysteine-rich region (3);	1.293160	0.05344	N	0.530692	D	0.85349	0.5676	L	0.32530	0.975	0.09310	N	1	B	0.15141	0.012	B	0.20767	0.031	T	0.71444	-0.4591	10	0.54805	T	0.06	-0.1657	5.2552	0.15544	0.1177:0.2085:0.6739:0.0	.	103	P26842	CD27_HUMAN	Q	103	ENSP00000266557:E103Q	ENSP00000266557:E103Q	E	+	1	0	CD27	6429638	0.030000	0.19436	0.026000	0.17262	0.338000	0.28826	0.026000	0.13599	0.274000	0.22072	0.561000	0.74099	GAG	CD27	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt		0.592	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27	HGNC	protein_coding	OTTHUMT00000399258.1	G			6559377	1	no_errors	ENST00000266557	ensembl	human	known	70_37	missense	SNP	0.053	C	C	6559377	G	C	6559377	3	2	180	1	0	0	0	0	1	0	0	0	2995	1291	45	1	317	1	CD27	12	6559377	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	6215102	6559377	127292518	182	33705										
LEPREL2	10536	genome.wustl.edu	37	chr12	6941065	6941065	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	catggagcacctggggaccaGcttcaaggatcctgtgagtc	13	11	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:6941065G>C	ENST00000538102.1	+	0	417				LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGGGGACCAGCTTCAAGGAT	0.557																																																	0													75	85	82					12																	6941065		2103	4223	6326			10536			U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 3"	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6941065G>C			Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.S399T	ENST00000538102.1	37	c.1196		12	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.490923	0.01018	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.32988	1.43;1.85	5.19	0.0987	0.14499	.	0.370250	0.35235	N	0.003342	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.31077	0.307	B	0.20767	0.031	T	0.33828	-0.9853	9	0.10377	T	0.69	.	6.9599	0.24591	0.2739:0.3028:0.4233:0.0	.	400	Q8IVL6	P3H3_HUMAN	T	399;215	ENSP00000379951:S399T;ENSP00000290510:S215T	ENSP00000290510:S215T	S	+	2	0	LEPREL2	6811326	0.001000	0.12720	0.942000	0.38095	0.199000	0.23934	-0.311000	0.08124	0.075000	0.16796	-1.036000	0.02392	AGC	LEPREL2	-	NULL		0.557	LEPREL2-006	KNOWN	basic	processed_transcript	LEPREL2	HGNC	polymorphic_pseudogene	OTTHUMT00000399998.1	G	NM_014262		6941065	1	no_errors	ENST00000396725	ensembl	human	known	70_37	missense	SNP	0.016	C	C	6941065	G	C	6941065	1	2	180	0	1	0	0	0	0	0	0	0	8751	971	34	4		4	LEPREL2	12	6941065	RNA	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	381688	6941065	126910830	183	33706										
PRB1	5542	genome.wustl.edu	37	chr12	11506810	11506810	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtgggggtggtccttgtggcTttcctggaggtgggggacct	20	7	0	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:11506810T>A	ENST00000500254.2	-	3	264	c.227A>T	c.(226-228)aAg>aTg	p.K76M	PRB1_ENST00000546254.1_Missense_Mutation_p.K76M|PRB1_ENST00000545626.1_Missense_Mutation_p.K76M	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTTGTGGCTTTCCTGGAGG	0.622																																																	0													140	174	163					12																	11506810		2162	4264	6426	SO:0001583	missense	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.227A>T	12.37:g.11506810T>A	ENSP00000420826:p.Lys76Met		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	NULL	p.K76M	ENST00000500254.2	37	c.227	CCDS8642.1	12	.	.	.	.	.	.	.	.	.	.	.	6.570	0.473402	0.12461	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.05580	3.42;3.42;3.42	0.86	-0.694	0.11294	.	.	.	.	.	T	0.13543	0.0328	M	0.79475	2.455	0.09310	N	1	D;D;D	0.58268	0.982;0.982;0.982	P;P;P	0.53035	0.551;0.716;0.551	T	0.10636	-1.0621	9	0.52906	T	0.07	.	4.8047	0.13314	0.0:0.0:0.3173:0.6826	.	83;76;76	Q86YA1;G3V1R1;G3V1M9	.;.;.	M	76	ENSP00000444249:K76M;ENSP00000420826:K76M;ENSP00000442127:K76M	ENSP00000420826:K76M	K	-	2	0	PRB1	11398077	0.004000	0.15560	0.000000	0.03702	0.030000	0.12068	-0.052000	0.11865	-0.191000	0.10448	0.254000	0.18369	AAG	PRB1	-	NULL		0.622	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1	T	NM_005039		11506810	-1	no_errors	ENST00000500254	ensembl	human	known	70_37	missense	SNP	0.000	A	A	11506810	T	A	11506810	3	1	180	1	0	0	0	0	1	0	0	0	12469	1609	56	5	772	5	PRB1	12	11506810	Missense_Mutation	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	4565745	11506810	122345085	184	33707										
PIK3C2G	5288	genome.wustl.edu	37	chr12	18435273	18435273	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaagcacaccaaatatccttGaatgaattcacttctaaaag	5	9	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:18435273G>A	ENST00000266497.5	+	1	296	c.258G>A	c.(256-258)ttG>ttA	p.L86L	PIK3C2G_ENST00000538779.1_Silent_p.L86L|PIK3C2G_ENST00000535651.1_Silent_p.L86L|PIK3C2G_ENST00000433979.1_Silent_p.L86L|RERGL_ENST00000541632.1_Intron			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	86					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAATATCCTTGAATGAATTCA	0.398																																																	0													106	103	104					12																	18435273		1848	4087	5935	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.258G>A	12.37:g.18435273G>A			A1L3U0	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L86	ENST00000266497.5	37	c.258	CCDS44839.1	12																																																																																			PIK3C2G	-	NULL		0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	G	NM_004570		18435273	1	no_errors	ENST00000538779	ensembl	human	known	70_37	silent	SNP	0.002	A	A	18435273	G	A	18435273	2	1	180	1	0	0	0	0	0	0	0	1	11935	1281	45	1		1	PIK3C2G	12	18435273	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	6928463	18435273	115416622	185	33708										
SLCO1C1	53919	genome.wustl.edu	37	chr12	20868094	20868094	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	atgtgaagtggacactagctCttccatgtggatttatgttt	10	6	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:20868094C>G	ENST00000266509.2	+	6	919	c.551C>G	c.(550-552)tCt>tGt	p.S184C	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S184C|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S66C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S184C|SLCO1C1_ENST00000540354.1_Intron	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	184					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GACACTAGCTCTTCCATGTGG	0.393																																																	0													211	207	209					12																	20868094		2203	4300	6503	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.551C>G	12.37:g.20868094C>G	ENSP00000266509:p.Ser184Cys		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S184C	ENST00000266509.2	37	c.551	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948180	0.53186	.	.	ENSG00000139155	ENST00000545604;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T	0.60040	0.22;0.22;0.22;0.95	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.417842	0.26470	N	0.024192	T	0.75474	0.3854	M	0.87180	2.865	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.967;0.992;0.994	T	0.68834	-0.5304	10	0.59425	D	0.04	.	8.1706	0.31252	0.1574:0.7626:0.0:0.08	.	66;184;184	F5GZD6;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	C	184;184;184;66	ENSP00000444149:S184C;ENSP00000266509:S184C;ENSP00000370964:S184C;ENSP00000444527:S66C	ENSP00000266509:S184C	S	+	2	0	SLCO1C1	20759361	0.041000	0.20044	1.000000	0.80357	0.912000	0.54170	2.933000	0.48948	2.473000	0.83533	0.563000	0.77884	TCT	SLCO1C1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.393	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	C	NM_017435		20868094	1	no_errors	ENST00000381552	ensembl	human	known	70_37	missense	SNP	0.049	G	G	20868094	C	G	20868094	3	3	180	1	0	0	0	0	1	0	0	0	14755	913	32	1	569	1	SLCO1C1	12	20868094	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2432821	20868094	112983801	186	33709										
DDX11	1663	genome.wustl.edu	37	chr12	31237918	31237918	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tccagaggcaggaagaagaaGaaagagagaatctcctccgc	12	9	1	6			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:31237918G>A	ENST00000407793.2	+	5	747	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	DDX11_ENST00000350437.4_Missense_Mutation_p.E166K|DDX11_ENST00000542838.1_Missense_Mutation_p.E166K|DDX11_ENST00000228264.6_Missense_Mutation_p.E140K|DDX11_ENST00000251758.5_Missense_Mutation_p.E166K|DDX11_ENST00000545668.1_Missense_Mutation_p.E166K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	166	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			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)					GGAAGAAGAAGAAAGAGAGAA	0.602										Multiple Myeloma(12;0.14)																																							0													18	20	19					12																	31237918		2202	4299	6501	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.496G>A	12.37:g.31237918G>A	ENSP00000384703:p.Glu166Lys		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.E166K	ENST00000407793.2	37	c.496	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561262	0.45590	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.58210	3.99;3.99;3.99;3.99;0.35;3.99;3.99;3.99	3.87	3.87	0.44632	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.056511	0.64402	D	0.000002	T	0.59595	0.2205	L	0.43757	1.38	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.997;1.0;1.0	D;D;D;D	0.85130	0.994;0.985;0.997;0.997	T	0.53781	-0.8390	10	0.08599	T	0.76	.	13.4362	0.61086	0.0:0.0:1.0:0.0	.	166;166;166;166	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	K	166;166;166;140;137;140;166;166	ENSP00000443426:E166K;ENSP00000384703:E166K;ENSP00000251758:E166K;ENSP00000228264:E140K;ENSP00000407646:E137K;ENSP00000406457:E140K;ENSP00000440402:E166K;ENSP00000309965:E166K	ENSP00000228264:E140K	E	+	1	0	DDX11	31129185	1.000000	0.71417	0.026000	0.17262	0.001000	0.01503	8.091000	0.89528	2.006000	0.58801	0.505000	0.49811	GAA	DDX11	-	smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3		0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	G	NM_030653		31237918	1	no_errors	ENST00000407793	ensembl	human	known	70_37	missense	SNP	0.982	A	A	31237918	G	A	31237918	3	1	180	1	0	0	0	0	1	0	0	0	4348	943	33	1	510	1	DDX11	12	31237918	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	10369824	31237918	102613977	187	33710										
SLC38A1	81539	genome.wustl.edu	37	chr12	46599882	46599882	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cctaagttcttcaagagacaCagagggagaattatgccaaa	9	8	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:46599882C>G	ENST00000398637.5	-	9	1321	c.627G>C	c.(625-627)ctG>ctC	p.L209L	SLC38A1_ENST00000439706.1_Silent_p.L209L|SLC38A1_ENST00000552197.1_Silent_p.L209L|SLC38A1_ENST00000546893.1_Silent_p.L209L|SLC38A1_ENST00000549049.1_Silent_p.L209L|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	209					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TCAAGAGACACAGAGGGAGAA	0.403																																																	0													89	93	91					12																	46599882		1920	4141	6061	SO:0001819	synonymous_variant	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.627G>C	12.37:g.46599882C>G			Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	pfam_AA_transpt_TM	p.L209	ENST00000398637.5	37	c.627	CCDS41774.1	12																																																																																			SLC38A1	-	pfam_AA_transpt_TM		0.403	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	C			46599882	-1	no_errors	ENST00000398637	ensembl	human	known	70_37	silent	SNP	1.000	G	G	46599882	C	G	46599882	2	3	180	1	0	0	0	0	0	0	0	1	14631	465	17	4		4	SLC38A1	12	46599882	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	15361964	46599882	87252013	188	33711										
WNT1	7471	genome.wustl.edu	37	chr12	49373340	49373340	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcccagtctgcagctgttgaGccgcaaacagcggcgtctga	13	13	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:49373340G>C	ENST00000293549.3	+	2	230	c.194G>C	c.(193-195)aGc>aCc	p.S65T		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	65					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAGCTGTTGAGCCGCAAACAG	0.607																																																	0													69	69	69					12																	49373340		2203	4300	6503	SO:0001583	missense	7471			X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.194G>C	12.37:g.49373340G>C	ENSP00000293549:p.Ser65Thr		Q5U0N2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1	p.S65T	ENST00000293549.3	37	c.194	CCDS8776.1	12	.	.	.	.	.	.	.	.	.	.	G	5.585	0.292815	0.10567	.	.	ENSG00000125084	ENST00000293549	T	0.75704	-0.96	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	N	0.10916	0.065	0.53688	D	0.999978	B	0.25563	0.129	B	0.23716	0.048	T	0.54443	-0.8293	10	0.02654	T	1	.	16.8853	0.86074	0.0:0.0:1.0:0.0	.	65	P04628	WNT1_HUMAN	T	65	ENSP00000293549:S65T	ENSP00000293549:S65T	S	+	2	0	WNT1	47659607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.097000	0.64542	2.501000	0.84356	0.655000	0.94253	AGC	WNT1	-	pfam_Wnt,smart_Wnt		0.607	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT1	HGNC	protein_coding	OTTHUMT00000408937.1	G			49373340	1	no_errors	ENST00000293549	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49373340	G	C	49373340	3	2	180	1	0	0	0	0	1	0	0	0	17412	971	34	4	200	4	WNT1	12	49373340	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2773458	49373340	84478555	189	33712										
MLL2	8085	genome.wustl.edu	37	chr12	49420844	49420844	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acgggaatcttcaccttcttCagggggccgggcacggggct	15	12	4	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:49420844C>A	ENST00000301067.7	-	48	14904	c.14905G>T	c.(14905-14907)Gaa>Taa	p.E4969*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4969	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCACCTTCTTCAGGGGGCCGG	0.642																																																	0													61	68	66					12																	49420844		1919	4131	6050	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14905G>T	12.37:g.49420844C>A	ENSP00000301067:p.Glu4969*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E4969*	ENST00000301067.7	37	c.14905	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	55	24.167059	0.99959	.	.	ENSG00000167548	ENST00000301067	.	.	.	3.89	3.89	0.44902	.	0.224072	0.22902	N	0.054254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1821	0.72968	0.0:1.0:0.0:0.0	.	.	.	.	X	4969	.	ENSP00000301067:E4969X	E	-	1	0	MLL2	47707111	0.999000	0.42202	0.999000	0.59377	0.991000	0.79684	4.512000	0.60469	2.181000	0.69327	0.563000	0.77884	GAA	MLL2	-	NULL		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49420844	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49420844	C	A	49420844	4	1	180	1	0	0	0	0	0	1	0	0	9644	835	29	3	1736	3	MLL2	12	49420844	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	47504	49420844	84431051	190	33713										
MLL2	8085	genome.wustl.edu	37	chr12	49434256	49434256	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gggtgatgggcaaaaagcttCagcagacagaggccggggtg	18	7	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:49434256C>A	ENST00000301067.7	-	31	7296	c.7297G>T	c.(7297-7299)Gaa>Taa	p.E2433*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2433	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAAAAAGCTTCAGCAGACAGA	0.627																																																	0													36	41	39					12																	49434256		2106	4231	6337	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7297G>T	12.37:g.49434256C>A	ENSP00000301067:p.Glu2433*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E2433*	ENST00000301067.7	37	c.7297	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	48	14.043711	0.99776	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.37955	N	0.001873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:1.0:0.0:0.0	.	.	.	.	X	2433	.	ENSP00000301067:E2433X	E	-	1	0	MLL2	47720523	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.566000	0.82347	2.596000	0.87737	0.591000	0.81541	GAA	MLL2	-	NULL		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49434256	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49434256	C	A	49434256	4	1	180	1	0	0	0	0	0	1	0	0	9644	835	29	3	9412	3	MLL2	12	49434256	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	13412	49434256	84417639	191	33714										
MLL2	8085	genome.wustl.edu	37	chr12	49437523	49437523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	caccccaactgcaaaaagggCcttacggctcaggtccagca	9	15	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:49437523C>T	ENST00000301067.7	-	23	5361	c.5362G>A	c.(5362-5364)Gcc>Acc	p.A1788T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1788					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCAAAAAGGGCCTTACGGCTC	0.572											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61	63	63					12																	49437523		1914	4144	6058	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5362G>A	12.37:g.49437523C>T	ENSP00000301067:p.Ala1788Thr	962	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A1788T	ENST00000301067.7	37	c.5362	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017651	0.54576	.	.	ENSG00000167548	ENST00000301067	D	0.83075	-1.68	5.49	5.49	0.81192	.	0.239752	0.21779	N	0.069224	T	0.81706	0.4879	N	0.25890	0.77	0.50313	D	0.999868	D	0.56746	0.977	P	0.50352	0.638	D	0.84431	0.0577	10	0.87932	D	0	.	18.1483	0.89665	0.0:1.0:0.0:0.0	.	1788	O14686	MLL2_HUMAN	T	1788	ENSP00000301067:A1788T	ENSP00000301067:A1788T	A	-	1	0	MLL2	47723790	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.607000	0.54102	2.564000	0.86499	0.563000	0.77884	GCC	MLL2	-	NULL		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49437523	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49437523	C	T	49437523	3	4	180	1	0	0	0	0	1	0	0	0	9644	739	26	4	11379	4	MLL2	12	49437523	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3267	49437523	84414372	192	33715										
EIF4B	1975	genome.wustl.edu	37	chr12	53431271	53431271	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agattgccactctccaacttCtaaacctcccaaacctgatc	3	16	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:53431271C>G	ENST00000262056.9	+	11	1711	c.1385C>G	c.(1384-1386)tCt>tGt	p.S462C	RP11-983P16.4_ENST00000550601.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.S467C|RP11-983P16.4_ENST00000546566.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.S423C|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	462					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TCTCCAACTTCTAAACCTCCC	0.473																																																	0													19	19	19					12																	53431271		1809	4044	5853	SO:0001583	missense	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1385C>G	12.37:g.53431271C>G	ENSP00000262056:p.Ser462Cys		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S462C	ENST00000262056.9	37	c.1385	CCDS41788.1	12	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510189	0.64522	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762	T;T;T	0.55588	0.51;0.82;0.51	5.2	5.2	0.72013	.	0.211367	0.40222	N	0.001146	T	0.57257	0.2041	M	0.71581	2.175	0.58432	D	0.999999	B;B;B;B	0.33044	0.395;0.143;0.003;0.275	B;B;B;B	0.36134	0.218;0.03;0.005;0.108	T	0.61845	-0.6979	10	0.66056	D	0.02	.	17.0418	0.86491	0.0:1.0:0.0:0.0	.	423;467;438;462	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	462;467;438;423	ENSP00000262056:S462C;ENSP00000388806:S467C;ENSP00000412530:S423C	ENSP00000262056:S462C	S	+	2	0	EIF4B	51717538	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.993000	0.63895	2.810000	0.96702	0.585000	0.79938	TCT	EIF4B	-	NULL		0.473	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	C	NM_001417		53431271	1	no_errors	ENST00000262056	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53431271	C	G	53431271	3	3	180	1	0	0	0	0	1	0	0	0	5039	913	32	1	1427	1	EIF4B	12	53431271	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3993748	53431271	80420624	193	33716										
PA2G4	5036	genome.wustl.edu	37	chr12	56504248	56504248	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgtggatgttctcgtcagctCaggagagggcaaggtgagga	17	6	3	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:56504248C>G	ENST00000303305.6	+	8	1114	c.695C>G	c.(694-696)tCa>tGa	p.S232*	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Nonsense_Mutation_p.S232*	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	232					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CTCGTCAGCTCAGGAGAGGGC	0.418																																																	0													86	79	81					12																	56504248		2203	4300	6503	SO:0001587	stop_gained	5036			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.695C>G	12.37:g.56504248C>G	ENSP00000302886:p.Ser232*		O43846|Q9UM59	Nonsense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.S232*	ENST00000303305.6	37	c.695	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.465740	0.98822	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711	.	.	.	5.32	5.32	0.75619	.	0.174161	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.1254	0.89584	0.0:1.0:0.0:0.0	.	.	.	.	X	232;232;261;232;232	.	ENSP00000302886:S232X	S	+	2	0	PA2G4	54790515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.787000	0.62432	2.662000	0.90505	0.655000	0.94253	TCA	PA2G4	-	superfamily_Pept_M24_structural-domain,tigrfam_Pap_1		0.418	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1	C	NM_006191		56504248	1	no_errors	ENST00000303305	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	56504248	C	G	56504248	4	3	180	1	0	0	0	0	0	1	0	0	11385	838	29	1	725	1	PA2G4	12	56504248	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3072977	56504248	77347647	194	33717										
PAN2	9924	genome.wustl.edu	37	chr12	56722356	56722356	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gctctggatctgccgaatatCatcactgccattgacttgaa	8	11	4	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:56722356C>T	ENST00000425394.2	-	3	728	c.352G>A	c.(352-354)Gat>Aat	p.D118N	PAN2_ENST00000257931.5_Missense_Mutation_p.D118N|PAN2_ENST00000440411.3_Missense_Mutation_p.D118N|PAN2_ENST00000548043.1_Missense_Mutation_p.D118N	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGCCGAATATCATCACTGCCA	0.463																																																	0													73	71	72					12																	56722356		2203	4300	6503	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.352G>A	12.37:g.56722356C>T	ENSP00000401721:p.Asp118Asn			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.D118N	ENST00000425394.2	37	c.352	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.106784	0.94292	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.07	5.07	0.68467	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.59436	1.845	0.80722	D	1	D;D;D	0.54207	0.965;0.965;0.964	P;P;B	0.49637	0.617;0.617;0.413	T	0.45702	-0.9243	10	0.39692	T	0.17	-23.9518	17.7659	0.88477	0.0:1.0:0.0:0.0	.	118;118;118	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	N	118	ENSP00000401721:D118N;ENSP00000388231:D118N;ENSP00000257931:D118N;ENSP00000449861:D118N	ENSP00000257931:D118N	D	-	1	0	PAN2	55008623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.571000	0.82399	2.803000	0.96430	0.650000	0.86243	GAT	PAN2	-	superfamily_WD40_repeat_dom		0.463	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	C	NM_014871		56722356	-1	no_errors	ENST00000425394	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56722356	C	T	56722356	3	4	180	1	0	0	0	0	1	0	0	0	11438	826	29	1	3352	1	PAN2	12	56722356	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	218108	56722356	77129539	195	33718										
MBD6	114785	genome.wustl.edu	37	chr12	57919782	57919782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcccagcactttacagggccGaaggccccgtgcccaggcac	11	17	0	0	rs371668485		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:57919782G>A	ENST00000355673.3	+	6	1387	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	MBD6_ENST00000431731.2_Missense_Mutation_p.R344Q	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	344	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTACAGGGCCGAAGGCCCCGT	0.637																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	36	39	38		1031	3.3	1	12		38	0,8600		0,0,4300	no	missense	MBD6	NM_052897.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	344/1004	57919782	1,13005	2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1031G>A	12.37:g.57919782G>A	ENSP00000347896:p.Arg344Gln		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.R344Q	ENST00000355673.3	37	c.1031	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	g	15.29	2.791159	0.50102	2.27E-4	0.0	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.24	3.34	0.38264	.	0.825865	0.09871	N	0.744825	T	0.29321	0.0730	N	0.08118	0	0.28250	N	0.925284	D;D	0.67145	0.996;0.996	P;P	0.53549	0.729;0.644	T	0.12372	-1.0550	8	.	.	.	-0.5017	9.6755	0.40039	0.1003:0.0:0.8997:0.0	.	344;344	Q6P0P0;Q96DN6	.;MBD6_HUMAN	Q	344	.	.	R	+	2	0	MBD6	56206049	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.539000	0.36104	1.125000	0.41998	0.556000	0.70494	CGA	MBD6	-	NULL		0.637	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	G			57919782	1	no_errors	ENST00000355673	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57919782	G	A	57919782	3	1	180	1	0	0	0	0	1	0	0	0	9371	1058	37	1	1045	1	MBD6	12	57919782	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1197426	57919782	75932113	196	33719										
LGR5	8549	genome.wustl.edu	37	chr12	71946981	71946981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccaggcttttagaagtttatCggcattgcaagccatgacct	9	10	0	2	rs144739516	byFrequency	TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:71946981C>T	ENST00000266674.5	+	5	868	c.557C>T	c.(556-558)tCg>tTg	p.S186L	LGR5_ENST00000540815.2_Missense_Mutation_p.S186L|LGR5_ENST00000536515.1_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	186					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AGAAGTTTATCGGCATTGCAA	0.488																																																	0								C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	147	141	143		557	5.8	1	12	dbSNP_134	143	0,8600		0,0,4300	no	missense	LGR5	NM_003667.2	145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	186/908	71946981	2,13004	2203	4300	6503	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.557C>T	12.37:g.71946981C>T	ENSP00000266674:p.Ser186Leu		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.S186L	ENST00000266674.5	37	c.557	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648964	0.67358	4.54E-4	0.0	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000540815	T;T	0.17213	2.29;2.29	5.82	5.82	0.92795	.	0.393509	0.22690	N	0.056831	T	0.18964	0.0455	L	0.46157	1.445	0.40076	D	0.976072	P;P	0.42518	0.599;0.782	B;B	0.34991	0.183;0.193	T	0.02498	-1.1150	10	0.66056	D	0.02	.	20.0852	0.97797	0.0:1.0:0.0:0.0	.	186;186	O75473-2;O75473	.;LGR5_HUMAN	L	186	ENSP00000266674:S186L;ENSP00000441035:S186L	ENSP00000266674:S186L	S	+	2	0	LGR5	70233248	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	7.818000	0.86416	2.752000	0.94435	0.655000	0.94253	TCG	LGR5	-	smart_Leu-rich_rpt_typical-subtyp		0.488	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	C	NM_003667		71946981	1	no_errors	ENST00000266674	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71946981	C	T	71946981	3	4	180	1	0	0	0	0	1	0	0	0	8777	893	31	1	575	1	LGR5	12	71946981	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	14027199	71946981	61904914	197	33720										
PPFIA2	8499	genome.wustl.edu	37	chr12	81741424	81741424	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccagcgatgaagctgtaacaGaggcagtaatggaggtacct	13	8	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:81741424G>A	ENST00000549396.1	-	18	2280	c.2120C>T	c.(2119-2121)tCt>tTt	p.S707F	PPFIA2_ENST00000541570.2_Missense_Mutation_p.S274F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S633F|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S707F|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S554F|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S608F|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S707F|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S689F|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S707F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S689F	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	707					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGCTGTAACAGAGGCAGTAAT	0.537																																																	0													143	150	148					12																	81741424		1998	4157	6155	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2120C>T	12.37:g.81741424G>A	ENSP00000450337:p.Ser707Phe		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S707F	ENST00000549396.1	37	c.2120	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882689	0.91740	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	M	0.80183	2.485	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	T	0.70579	-0.4833	10	0.42905	T	0.14	-10.0983	19.7929	0.96466	0.0:0.0:1.0:0.0	.	707	O75334	LIPA2_HUMAN	F	707;689;274;633;718;689;707;608;707	ENSP00000450337:S707F;ENSP00000450298:S689F;ENSP00000438337:S274F;ENSP00000385093:S633F;ENSP00000327416:S689F;ENSP00000449338:S707F;ENSP00000388373:S608F;ENSP00000447868:S707F	ENSP00000327416:S689F	S	-	2	0	PPFIA2	80265555	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	9.775000	0.98995	2.741000	0.93983	0.650000	0.86243	TCT	PPFIA2	-	NULL		0.537	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	G			81741424	-1	no_errors	ENST00000549396	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81741424	G	A	81741424	3	1	180	1	0	0	0	0	1	0	0	0	12334	942	33	1	1713	1	PPFIA2	12	81741424	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	9794443	81741424	52110471	198	33721										
HCFC2	29915	genome.wustl.edu	37	chr12	104460085	104460085	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gatacagcaatgagttatatGagttacaagtaagtgtattt	9	3	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:104460085G>A	ENST00000229330.4	+	2	408	c.304G>A	c.(304-306)Gag>Aag	p.E102K	GLT8D2_ENST00000548660.1_5'Flank	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	102					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGAGTTATATGAGTTACAAGT	0.333																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													136	143	140					12																	104460085		2203	4300	6503	SO:0001583	missense	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.304G>A	12.37:g.104460085G>A	ENSP00000229330:p.Glu102Lys		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E102K	ENST00000229330.4	37	c.304	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853844	0.71719	.	.	ENSG00000111727	ENST00000229330;ENST00000550444	T;T	0.72942	-0.7;-0.16	4.11	4.11	0.48088	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.80049	-0.1545	10	0.24483	T	0.36	-11.9988	16.7318	0.85436	0.0:0.0:1.0:0.0	.	102	Q9Y5Z7	HCFC2_HUMAN	K	102;13	ENSP00000229330:E102K;ENSP00000447952:E13K	ENSP00000229330:E102K	E	+	1	0	HCFC2	102984215	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.575000	0.98187	1.986000	0.57962	0.655000	0.94253	GAG	HCFC2	-	NULL		0.333	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	G	NM_013320		104460085	1	no_errors	ENST00000229330	ensembl	human	known	70_37	missense	SNP	1.000	A	A	104460085	G	A	104460085	3	1	180	1	0	0	0	0	1	0	0	0	7013	1291	45	1	310	1	HCFC2	12	104460085	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	22718661	104460085	29391810	199	33722										
TXNRD1	7296	genome.wustl.edu	37	chr12	104719207	104719207	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	attgaaggagaatataatacGgtaaggaatgggcccaggtt	13	4	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:104719207G>A	ENST00000529546.1	+	8	969	c.744G>A	c.(742-744)acG>acA	p.T248T	TXNRD1_ENST00000526691.1_Splice_Site_p.T338T|TXNRD1_ENST00000397736.2_Splice_Site_p.T330T|TXNRD1_ENST00000526390.1_Splice_Site_p.T330T|TXNRD1_ENST00000525566.1_Splice_Site_p.T436T|TXNRD1_ENST00000526950.1_Splice_Site_p.T355T|TXNRD1_ENST00000427956.1_Splice_Site_p.T401T|TXNRD1_ENST00000354940.6_Splice_Site_p.T286T|TXNRD1_ENST00000524698.1_Splice_Site_p.T286T|TXNRD1_ENST00000378070.4_Splice_Site_p.T385T|TXNRD1_ENST00000388854.3_Splice_Site_p.T338T|TXNRD1_ENST00000542918.1_Splice_Site_p.T336T|TXNRD1_ENST00000540716.1_Splice_Site_p.T248T|TXNRD1_ENST00000503506.2_Splice_Site_p.T286T|TXNRD1_ENST00000429002.2_Splice_Site_p.T436T			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	436					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	AATATAATACGGTAAGGAATG	0.393																																					Ovarian(139;555 1836 9186 9946 10884)												0													61	57	59					12																	104719207		1866	4112	5978	SO:0001630	splice_region_variant	7296				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.744+1G>A	12.37:g.104719207G>A			B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.T436	ENST00000529546.1	37	c.1308	CCDS58274.1	12																																																																																			TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase		0.393	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	G	NM_003330	Silent	104719207	1	no_errors	ENST00000429002	ensembl	human	known	70_37	silent	SNP	0.998	A	A	104719207	G	A	104719207	5	1	180	1	0	0	0	0	0	0	1	0	16838	1130	39	2	1364	2	TXNRD1	12	104719207	Splice_Site	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	259122	104719207	29132688	200	33723										
MYO1H	283446	genome.wustl.edu	37	chr12	109878605	109878605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctggtgcagaagtactgccgCgggatcacagctgagcggaa	15	10	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:109878605C>T	ENST00000431443.2	+	24	2493	c.2493C>T	c.(2491-2493)cgC>cgT	p.R831R	MYO1H_ENST00000310903.5_Silent_p.R821R	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	831						myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGTACTGCCGCGGGATCACAG	0.567																																																	0													68	75	73					12																	109878605		2088	4192	6280	SO:0001819	synonymous_variant	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2493C>T	12.37:g.109878605C>T			F5H3C6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R831	ENST00000431443.2	37	c.2493		12																																																																																			MYO1H	-	NULL		0.567	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		C	NM_173597		109878605	1	no_errors	ENST00000431443	ensembl	human	known	70_37	silent	SNP	0.000	T	T	109878605	C	T	109878605	2	4	180	1	0	0	0	0	0	0	0	1	10098	755	27	2		2	MYO1H	12	109878605	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	5159398	109878605	23973290	201	33724										
NAA25	80018	genome.wustl.edu	37	chr12	112513503	112513503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tttttagtaagaggcgccggGaaagggcattgcactctggc	14	8	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:112513503G>A	ENST00000261745.4	-	8	1003	c.755C>T	c.(754-756)tCc>tTc	p.S252F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	252						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GAGGCGCCGGGAAAGGGCATT	0.418																																																	0													92	95	94					12																	112513503		2203	4300	6503	SO:0001583	missense	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.755C>T	12.37:g.112513503G>A	ENSP00000261745:p.Ser252Phe		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.S252F	ENST00000261745.4	37	c.755	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054320	0.36277	.	.	ENSG00000111300	ENST00000261745	T	0.23754	1.89	5.62	5.62	0.85841	.	0.057153	0.64402	D	0.000001	T	0.21468	0.0517	L	0.44542	1.39	0.58432	D	0.999999	P;P	0.35433	0.501;0.501	B;B	0.27500	0.08;0.08	T	0.05733	-1.0867	10	0.10377	T	0.69	-9.1254	19.6604	0.95864	0.0:0.0:1.0:0.0	.	252;252	A8K8X0;Q14CX7	.;NAA25_HUMAN	F	252	ENSP00000261745:S252F	ENSP00000261745:S252F	S	-	2	0	NAA25	110997886	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.229000	0.95273	2.648000	0.89879	0.655000	0.94253	TCC	NAA25	-	NULL		0.418	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	G	NM_024953		112513503	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112513503	G	A	112513503	3	1	180	1	0	0	0	0	1	0	0	0	10144	1174	41	1	2231	1	NAA25	12	112513503	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2634898	112513503	21338392	202	33725										
RBM19	9904	genome.wustl.edu	37	chr12	114387954	114387954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	attgctgaaatccacaaagaTgtatcctgacagaggacaat	8	8	0	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:114387954T>C	ENST00000545145.2	-	9	1084	c.1006A>G	c.(1006-1008)Atc>Gtc	p.I336V	RBM19_ENST00000392561.3_Missense_Mutation_p.I336V|RBM19_ENST00000261741.5_Missense_Mutation_p.I336V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	336	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCACAAAGATGTATCCTGAC	0.498																																																	0													175	139	152					12																	114387954		2203	4300	6503	SO:0001583	missense	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1006A>G	12.37:g.114387954T>C	ENSP00000442053:p.Ile336Val		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.I336V	ENST00000545145.2	37	c.1006	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	T	1.913	-0.450188	0.04572	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.07444	3.19;3.19;3.19	4.49	-2.7	0.06004	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.204233	0.40908	N	0.000988	T	0.02970	0.0088	N	0.02916	-0.46	0.30808	N	0.739148	B	0.02656	0.0	B	0.04013	0.001	T	0.35176	-0.9799	10	0.25751	T	0.34	-14.4031	11.6811	0.51458	0.0:0.3246:0.0:0.6754	.	336	Q9Y4C8	RBM19_HUMAN	V	336	ENSP00000442053:I336V;ENSP00000376344:I336V;ENSP00000261741:I336V	ENSP00000261741:I336V	I	-	1	0	RBM19	112872337	0.010000	0.17322	0.938000	0.37757	0.968000	0.65278	-0.164000	0.09983	-0.886000	0.03966	0.459000	0.35465	ATC	RBM19	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.498	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	T	NM_016196		114387954	-1	no_errors	ENST00000261741	ensembl	human	known	70_37	missense	SNP	0.988	C	C	114387954	T	C	114387954	3	2	180	1	0	0	0	0	1	0	0	0	13151	1464	51	5	1940	5	RBM19	12	114387954	Missense_Mutation	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	1874451	114387954	19463941	203	33726										
DYNLL1	8655	genome.wustl.edu	37	chr12	120934235	120934235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctaggtaaccatgtgcgaccGaaaggccgtgatcaaaaatg	11	9	1	1	rs11544060		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:120934235G>A	ENST00000392509.2	+	2	272	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	DYNLL1_ENST00000549989.1_Missense_Mutation_p.R4Q|DYNLL1_ENST00000552870.1_Missense_Mutation_p.R4Q|DYNLL1_ENST00000550178.1_Missense_Mutation_p.R4Q|DYNLL1_ENST00000548214.1_Missense_Mutation_p.R4Q|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000392508.2_Missense_Mutation_p.R4Q|DYNLL1_ENST00000548342.1_Missense_Mutation_p.R4Q|DYNLL1_ENST00000242577.6_Missense_Mutation_p.R4Q|DYNLL1_ENST00000550845.1_Missense_Mutation_p.R4Q	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	4					actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTGCGACCGAAAGGCCGTG	0.607																																																	0													78	76	77					12																	120934235		2203	4300	6503	SO:0001583	missense	8655			U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"Cytoplasmic dyneins"	15476	protein-coding gene	gene with protein product		601562	"dynein, cytoplasmic, light polypeptide 1"	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.11G>A	12.37:g.120934235G>A	ENSP00000376297:p.Arg4Gln		Q15701	Missense_Mutation	SNP	pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2	p.R4Q	ENST00000392509.2	37	c.11	CCDS9200.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967087	0.74131	.	.	ENSG00000088986	ENST00000392509;ENST00000549649;ENST00000548342;ENST00000242577;ENST00000548214;ENST00000392508;ENST00000550178;ENST00000550845;ENST00000549989;ENST00000552870	.	.	.	5.26	5.26	0.73747	.	0.109676	0.64402	N	0.000012	T	0.53642	0.1809	.	.	.	0.58432	D	0.999998	B	0.06786	0.001	B	0.10450	0.005	T	0.45644	-0.9247	8	0.22706	T	0.39	.	19.298	0.94131	0.0:0.0:1.0:0.0	rs11544060	4	P63167	DYL1_HUMAN	Q	4	.	ENSP00000242577:R4Q	R	+	2	0	DYNLL1	119418618	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.476000	0.81055	2.637000	0.89404	0.555000	0.69702	CGA	DYNLL1	-	pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2		0.607	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYNLL1	HGNC	protein_coding	OTTHUMT00000403709.1	G	NM_003746		120934235	1	no_errors	ENST00000242577	ensembl	human	known	70_37	missense	SNP	1.000	A	A	120934235	G	A	120934235	3	1	180	1	0	0	0	0	1	0	0	0	4858	1058	37	1	13	1	DYNLL1	12	120934235	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	6546281	120934235	12917660	204	33727										
ATP6V0A2	23545	genome.wustl.edu	37	chr12	124228764	124228764	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcagctctctttaccatcatCaccttcccgtttttatttgc	4	14	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:124228764C>T	ENST00000330342.3	+	11	1454	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	402					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTACCATCATCACCTTCCCGT	0.368																																																	0													265	241	249					12																	124228764		2203	4300	6503	SO:0001819	synonymous_variant	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1206C>T	12.37:g.124228764C>T			A8K026|Q6NUM0	Silent	SNP	pfam_ATPase_V0/A0_a	p.I402	ENST00000330342.3	37	c.1206	CCDS9254.1	12																																																																																			ATP6V0A2	-	pfam_ATPase_V0/A0_a		0.368	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2	C	NM_012463		124228764	1	no_errors	ENST00000330342	ensembl	human	known	70_37	silent	SNP	1.000	T	T	124228764	C	T	124228764	2	4	180	1	0	0	0	0	0	0	0	1	1170	816	29	1		1	ATP6V0A2	12	124228764	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3294529	124228764	9623131	205	33728										
DNAH10	196385	genome.wustl.edu	37	chr12	124267767	124267767	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtgtgataaactggctgaatCagatatccacagcggttgag	12	7	1	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:124267767C>T	ENST00000409039.3	+	7	797	c.772C>T	c.(772-774)Cag>Tag	p.Q258*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	258	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q76*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGCTGAATCAGATATCCAC	0.527																																																	1	Substitution - Nonsense(1)	skin(1)											114	105	108					12																	124267767		2203	4300	6503	SO:0001587	stop_gained	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.772C>T	12.37:g.124267767C>T	ENSP00000386770:p.Gln258*		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.Q258*	ENST00000409039.3	37	c.772	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830852	0.91036	.	.	ENSG00000197653	ENST00000409039	.	.	.	6.01	6.01	0.97437	.	0.510335	0.19171	N	0.120937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	11.771	0.51958	0.0:0.8906:0.0:0.1094	.	.	.	.	X	258	.	ENSP00000386770:Q258X	Q	+	1	0	DNAH10	122833720	1.000000	0.71417	0.962000	0.40283	0.243000	0.25628	4.281000	0.58965	2.861000	0.98227	0.650000	0.86243	CAG	DNAH10	-	pfam_Dynein_heavy_dom-1		0.527	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124267767	1	no_errors	ENST00000409039	ensembl	human	known	70_37	nonsense	SNP	0.986	T	T	124267767	C	T	124267767	4	4	180	1	0	0	0	0	0	1	0	0	4608	827	29	1	798	1	DNAH10	12	124267767	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	39003	124267767	9584128	206	33729										
NCOR2	9612	genome.wustl.edu	37	chr12	124886952	124886952	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gacagcaggctgccttacttGaggaggtcttccttgtcgtt	12	10	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:124886952G>C	ENST00000405201.1	-	14	1638	c.1638C>G	c.(1636-1638)ctC>ctG	p.L546L	NCOR2_ENST00000397355.1_Silent_p.L546L|NCOR2_ENST00000429285.2_Silent_p.L545L|NCOR2_ENST00000404621.1_Silent_p.L545L|NCOR2_ENST00000356219.3_Silent_p.L546L|NCOR2_ENST00000404121.2_Silent_p.L116L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	546					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGCCTTACTTGAGGAGGTCTT	0.637																																																	0													106	129	122					12																	124886952		2122	4233	6355	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1638C>G	12.37:g.124886952G>C			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L546	ENST00000405201.1	37	c.1638	CCDS41858.2	12																																																																																			NCOR2	-	NULL		0.637	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	G	NM_006312		124886952	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	silent	SNP	0.890	C	C	124886952	G	C	124886952	2	2	180	1	0	0	0	0	0	0	0	1	10260	1277	45	1		1	NCOR2	12	124886952	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	619185	124886952	8964943	207	33730										
UBC	7316	genome.wustl.edu	37	chr12	125396263	125396263	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	accttaaaaggggaaacttaGacaccccccctcaagcgcag	8	14	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr12:125396263G>C	ENST00000538617.1	-	4	1231	c.915C>G	c.(913-915)gtC>gtG	p.V305V	UBC_ENST00000339647.5_Silent_p.V685V|UBC_ENST00000546120.1_Silent_p.V609V|UBC_ENST00000536769.1_Silent_p.V685V|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	685	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGGAAACTTAGACACCCCCCC	0.413																																																	0													64	66	65					12																	125396263		2203	4300	6503	SO:0001819	synonymous_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.915C>G	12.37:g.125396263G>C			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.V685	ENST00000538617.1	37	c.2055		12																																																																																			UBC	-	NULL		0.413	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	G	NM_021009		125396263	-1	no_errors	ENST00000339647	ensembl	human	known	70_37	silent	SNP	0.104	C	C	125396263	G	C	125396263	2	2	180	1	0	0	0	0	0	0	0	1	16873	929	33	1		1	UBC	12	125396263	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	509311	125396263	8455632	208	33731										
TRPC4	7223	genome.wustl.edu	37	chr13	38266214	38266214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	caagtctgacctgtcgatgtGctgagaggcaagcagcagca	13	10	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:38266214G>T	ENST00000379705.3	-	4	2013	c.1156C>A	c.(1156-1158)Cac>Aac	p.H386N	TRPC4_ENST00000379681.3_Missense_Mutation_p.H386N|TRPC4_ENST00000355779.2_Missense_Mutation_p.H386N|TRPC4_ENST00000338947.5_Missense_Mutation_p.H213N|TRPC4_ENST00000379673.2_Missense_Mutation_p.H386N|TRPC4_ENST00000358477.2_Missense_Mutation_p.H386N|TRPC4_ENST00000447043.1_Missense_Mutation_p.H386N|TRPC4_ENST00000379679.1_Missense_Mutation_p.H213N|TRPC4_ENST00000426868.2_Missense_Mutation_p.H386N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	386					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGTCGATGTGCTGAGAGGCA	0.468																																																	0													118	108	111					13																	38266214		2203	4300	6503	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1156C>A	13.37:g.38266214G>T	ENSP00000369027:p.His386Asn		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.H386N	ENST00000379705.3	37	c.1156	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609607	0.46527	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.75	5.75	0.90469	.	0.042279	0.85682	D	0.000000	T	0.75889	0.3911	L	0.28504	0.86	0.49389	D	0.999785	B;B;B;B;B;B	0.23990	0.003;0.007;0.002;0.095;0.002;0.002	B;B;B;B;B;B	0.30855	0.012;0.011;0.004;0.121;0.017;0.008	T	0.69621	-0.5096	10	0.21014	T	0.42	-23.639	14.7455	0.69488	0.0:0.0:0.8554:0.1446	.	386;386;386;213;386;386	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	N	386;386;213;213;386;386;386;386;386	ENSP00000369027:H386N;ENSP00000369003:H386N;ENSP00000342580:H213N;ENSP00000369001:H213N;ENSP00000410133:H386N;ENSP00000348025:H386N;ENSP00000351264:H386N;ENSP00000368995:H386N;ENSP00000414316:H386N	ENSP00000342580:H213N	H	-	1	0	TRPC4	37164214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.867000	0.87062	2.700000	0.92200	0.563000	0.77884	CAC	TRPC4	-	tigrfam_TRP_channel		0.468	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	G	NM_003306		38266214	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38266214	G	T	38266214	3	4	180	1	0	0	0	0	1	0	0	0	16611	1319	46	4	1824	4	TRPC4	13	38266214	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		38266214	76903664	209	33732										
NHLRC3	387921	genome.wustl.edu	37	chr13	39616414	39616414	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtggatggagatggaggattGaataacagattgatcaaact	13	3	1	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:39616414G>C	ENST00000379600.3	+	4	880	c.558G>C	c.(556-558)ttG>ttC	p.L186F	NHLRC3_ENST00000379599.2_Intron|NHLRC3_ENST00000470258.1_5'UTR	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	186						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATGGAGGATTGAATAACAGAT	0.308																																																	0													122	118	120					13																	39616414		2203	4300	6503	SO:0001583	missense	387921				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.558G>C	13.37:g.39616414G>C	ENSP00000368920:p.Leu186Phe		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.L186F	ENST00000379600.3	37	c.558	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318388	0.60524	.	.	ENSG00000188811	ENST00000379600	T	0.47869	0.83	5.42	2.78	0.32641	Six-bladed beta-propeller, TolB-like (1);	0.284253	0.34777	N	0.003695	T	0.50309	0.1608	L	0.51422	1.61	0.80722	D	1	P;D	0.59767	0.947;0.986	P;P	0.54060	0.466;0.741	T	0.39121	-0.9629	9	.	.	.	-11.719	9.605	0.39628	0.2246:0.0:0.7754:0.0	.	186;186	Q5JS37;B4DRC8	NHLC3_HUMAN;.	F	186	ENSP00000368920:L186F	.	L	+	3	2	NHLRC3	38514414	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	3.293000	0.51779	0.270000	0.21984	0.563000	0.77884	TTG	NHLRC3	-	NULL		0.308	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	G	NM_001012754		39616414	1	no_errors	ENST00000379600	ensembl	human	known	70_37	missense	SNP	0.998	C	C	39616414	G	C	39616414	3	2	180	1	0	0	0	0	1	0	0	0	10431	1281	45	1	572	1	NHLRC3	13	39616414	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1350200	39616414	75553464	210	33733										
KIAA0564	23078	genome.wustl.edu	37	chr13	42164839	42164839	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccagtcagcccatcaatgatCttggcatcatctaattctcc	5	14	6	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:42164839C>T	ENST00000379310.3	-	41	5117	c.5049G>A	c.(5047-5049)aaG>aaA	p.K1683K		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1683						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CATCAATGATCTTGGCATCAT	0.438																																																	0													165	154	157					13																	42164839		1955	4149	6104	SO:0001819	synonymous_variant	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5049G>A	13.37:g.42164839C>T			O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.K1683	ENST00000379310.3	37	c.5049	CCDS41881.1	13																																																																																			VWA8	-	NULL		0.438	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	C	NM_015058		42164839	-1	no_errors	ENST00000379310	ensembl	human	known	70_37	silent	SNP	1.000	T	T	42164839	C	T	42164839	2	4	180	1	0	0	0	0	0	0	0	1	8205	912	32	1		1	KIAA0564	13	42164839	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2548425	42164839	73005039	211	33734										
ZC3H13	23091	genome.wustl.edu	37	chr13	46549669	46549669	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tccctgtctcgttccctctcTctttcccgctctcgatcgtg	6	18	4	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr13:46549669T>A	ENST00000242848.4	-	12	2565	c.2217A>T	c.(2215-2217)agA>agT	p.R739S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R739S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	739	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		gttccctctctctttcccgct	0.527																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													147	125	133					13																	46549669		2203	4297	6500	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2217A>T	13.37:g.46549669T>A	ENSP00000242848:p.Arg739Ser		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R739S	ENST00000242848.4	37	c.2217		13	.	.	.	.	.	.	.	.	.	.	T	8.854	0.945184	0.18356	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.40476	2.03;1.03	5.19	-0.211	0.13172	.	0.000000	0.56097	D	0.000027	T	0.56307	0.1976	.	.	.	0.80722	D	1	D;D	0.61080	0.981;0.989	D;D	0.75020	0.966;0.985	T	0.51779	-0.8662	9	0.39692	T	0.17	.	10.0809	0.42388	0.0:0.3714:0.0:0.6286	.	739;739	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	S	739	ENSP00000242848:R739S;ENSP00000282007:R739S	ENSP00000242848:R739S	R	-	3	2	ZC3H13	45447670	0.908000	0.30866	0.841000	0.33234	0.525000	0.34531	-0.125000	0.10579	-0.154000	0.11118	-0.379000	0.06801	AGA	ZC3H13	-	NULL		0.527	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	T	NM_015070		46549669	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	0.999	A	A	46549669	T	A	46549669	3	1	180	1	0	0	0	0	1	0	0	0	17595	1548	54	5	2501	5	ZC3H13	13	46549669	Missense_Mutation	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	4384830	46549669	68620209	212	33735										
METTL3	56339	genome.wustl.edu	37	chr14	21971383	21971383	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctatctccagatcaacatctGaggcagcatgtttccttgat	7	11	3	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:21971383G>A	ENST00000298717.4	-	3	807	c.656C>T	c.(655-657)tCa>tTa	p.S219L	METTL3_ENST00000538267.1_Nonsense_Mutation_p.Q148*	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	219					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ATCAACATCTGAGGCAGCATG	0.468																																																	0													171	159	163					14																	21971383		2203	4300	6503	SO:0001583	missense	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.656C>T	14.37:g.21971383G>A	ENSP00000298717:p.Ser219Leu		O14736|Q86V05|Q9HB32	Nonsense_Mutation	SNP	NULL	p.Q148*	ENST00000298717.4	37	c.442	CCDS32044.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.866800|4.866800	0.91511|0.91511	.|.	.|.	ENSG00000165819|ENSG00000165819	ENST00000538267|ENST00000298717	.|T	.|0.31510	.|1.49	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.34077	.|0.0885	N|N	0.08118|0.08118	0|0	0.45930|0.45930	A|A	0.998764|0.998764	.|D;D;B	.|0.76494	.|0.999;0.999;0.152	.|D;D;B	.|0.78314	.|0.991;0.991;0.021	.|T	.|0.32719	.|-0.9896	.|9	0.87932|0.23302	D|T	0|0.38	-2.5437|-2.5437	16.1277|16.1277	0.81406|0.81406	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|219;219;219	.|B4E2F6;B4DTN4;Q86U44	.|.;.;MTA70_HUMAN	X|L	148|219	.|ENSP00000298717:S219L	ENSP00000442407:Q148X|ENSP00000298717:S219L	Q|S	-|-	1|2	0|0	METTL3|METTL3	21041223|21041223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.691000|7.691000	0.84191|0.84191	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	CAG|TCA	METTL3	-	NULL		0.468	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL3	HGNC	protein_coding	OTTHUMT00000401227.1	G	NM_019852		21971383	-1	no_errors	ENST00000537163	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	21971383	G	A	21971383	3	1	180	1	0	0	0	0	1	0	0	0	9524	1294	45	1	1122	1	METTL3	14	21971383	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		21971383	85378157	213	33736										
MYH7	4625	genome.wustl.edu	37	chr14	23884676	23884676	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agtctggagctgggacaggtCagcatccatcttcttcttct	10	11	6	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:23884676C>T	ENST00000355349.3	-	36	5359	c.5197G>A	c.(5197-5199)Gac>Aac	p.D1733N	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1733					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGGACAGGTCAGCATCCATC	0.547																																																	0													157	123	134					14																	23884676		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5197G>A	14.37:g.23884676C>T	ENSP00000347507:p.Asp1733Asn		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1733N	ENST00000355349.3	37	c.5197	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039920	0.75732	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.85171	-1.95	5.41	5.41	0.78517	Myosin tail (1);	.	.	.	.	D	0.94686	0.8286	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95413	0.8500	9	0.87932	D	0	.	19.3981	0.94617	0.0:1.0:0.0:0.0	.	1733	P12883	MYH7_HUMAN	N	1733;1738	ENSP00000347507:D1733N	ENSP00000347507:D1733N	D	-	1	0	MYH7	22954516	1.000000	0.71417	0.987000	0.45799	0.375000	0.29983	7.113000	0.77095	2.826000	0.97356	0.561000	0.74099	GAC	MYH7	-	pfam_Myosin_tail		0.547	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23884676	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23884676	C	T	23884676	3	4	180	1	0	0	0	0	1	0	0	0	10062	826	29	1	630	1	MYH7	14	23884676	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	1913293	23884676	83464864	214	33737										
CPNE6	9362	genome.wustl.edu	37	chr14	24545487	24545487	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaggcatctgccaggactatGacaggtaggagagagtgggg	18	6	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:24545487G>C	ENST00000397016.2	+	12	1365	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	CPNE6_ENST00000216775.2_Missense_Mutation_p.D352H|CPNE6_ENST00000537691.1_Missense_Mutation_p.D407H	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	352	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCAGGACTATGACAGGTAGGA	0.627																																																	0													77	78	78					14																	24545487		2203	4300	6503	SO:0001583	missense	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1054G>C	14.37:g.24545487G>C	ENSP00000380211:p.Asp352His		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.D407H	ENST00000397016.2	37	c.1219	CCDS9607.1	14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563436	0.86335	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.29655	1.56;1.56;1.56	4.79	4.79	0.61399	von Willebrand factor, type A (2);Copine (1);	0.118428	0.38897	N	0.001522	T	0.68906	0.3052	H	0.97103	3.94	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80471	-0.1368	10	0.87932	D	0	-14.5047	15.3636	0.74503	0.0:0.0:1.0:0.0	.	407;352	F5GXN1;O95741	.;CPNE6_HUMAN	H	407;352;352	ENSP00000440077:D407H;ENSP00000380211:D352H;ENSP00000216775:D352H	ENSP00000216775:D352H	D	+	1	0	CPNE6	23615327	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	9.620000	0.98373	2.485000	0.83878	0.467000	0.42956	GAC	CPNE6	-	pfam_Copine,smart_VWF_A,pfscan_VWF_A		0.627	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	HGNC	protein_coding	OTTHUMT00000071869.5	G			24545487	1	no_errors	ENST00000537691	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24545487	G	C	24545487	3	2	180	1	0	0	0	0	1	0	0	0	3821	1290	45	1	1092	1	CPNE6	14	24545487	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	660811	24545487	82804053	215	33738										
TM9SF1	10548	genome.wustl.edu	37	chr14	24659605	24659605	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cctgaaaggcaggaagcctcCaacagtcatgtggatgacag	12	10	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:24659605C>G	ENST00000261789.4	-	5	1766	c.1408G>C	c.(1408-1410)Gga>Cga	p.G470R	TM9SF1_ENST00000396854.4_Missense_Mutation_p.G470R|TM9SF1_ENST00000524835.1_Missense_Mutation_p.G383R|TM9SF1_ENST00000530611.1_Missense_Mutation_p.G679R|TM9SF1_ENST00000556387.1_Missense_Mutation_p.G679R|RP11-468E2.2_ENST00000561419.1_Missense_Mutation_p.L6F|TM9SF1_ENST00000528669.1_Intron|IPO4_ENST00000354464.6_5'Flank	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	470					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGGAAGCCTCCAACAGTCATG	0.522																																																	0													105	90	95					14																	24659605		2203	4300	6503	SO:0001583	missense	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1408G>C	14.37:g.24659605C>G	ENSP00000261789:p.Gly470Arg		D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	pfam_EMP70,pfam_Snf7	p.G679R	ENST00000261789.4	37	c.2035	CCDS9617.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.616552|4.616552	0.87359|0.87359	.|.	.|.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692|ENSG00000100926	ENST00000261789;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000530611|ENST00000532632	T;T;T;T;T|T	0.53640|0.54279	0.61;0.61;0.61;0.61;0.61|0.58	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81828|0.81828	0.4905|0.4905	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.83275|.	0.996;0.986|.	D|D	0.88186|0.88186	0.2874|0.2874	10|7	0.87932|0.87932	D|D	0|0	-5.3286|-5.3286	16.095|16.095	0.81114|0.81114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	470;470|.	Q86SZ6;O15321|.	.;TM9S1_HUMAN|.	R|S	470;679;383;470;679|37	ENSP00000261789:G470R;ENSP00000451949:G679R;ENSP00000434387:G383R;ENSP00000380063:G470R;ENSP00000433967:G679R|ENSP00000436486:W37S	ENSP00000433967:G679R|ENSP00000436486:W37S	G|W	-|-	1|2	0|0	TM9SF1;RP11-468E2.1|TM9SF1	23729445|23729445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.577000|6.577000	0.74027|0.74027	2.377000|2.377000	0.81083|0.81083	0.655000|0.655000	0.94253|0.94253	GGA|TGG	TM9SF1	-	pfam_EMP70		0.522	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	HGNC	protein_coding	OTTHUMT00000073136.2	C	NM_006405		24659605	-1	no_errors	ENST00000556387	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24659605	C	G	24659605	3	3	180	1	0	0	0	0	1	0	0	0	16007	603	21	4	463	4	TM9SF1	14	24659605	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	114118	24659605	82689935	216	33739										
FOXG1	2290	genome.wustl.edu	37	chr14	29237007	29237007	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gggggcaaggagggcgagaaGaagaacggcaagtacgagaa	19	5	0	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:29237007G>A	ENST00000313071.4	+	1	721	c.522G>A	c.(520-522)aaG>aaA	p.K174K	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Silent_p.K174K	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	174	Gly-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		agggcgagaagaagAACGGCA	0.682																																																	0													27	29	29					14																	29237007		2203	4300	6503	SO:0001819	synonymous_variant	2290				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.522G>A	14.37:g.29237007G>A			A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K174	ENST00000313071.4	37	c.522	CCDS9636.1	14																																																																																			FOXG1	-	NULL		0.682	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	G			29237007	1	no_errors	ENST00000313071	ensembl	human	known	70_37	silent	SNP	1.000	A	A	29237007	G	A	29237007	2	1	180	1	0	0	0	0	0	0	0	1	6025	933	33	1		1	FOXG1	14	29237007	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4577402	29237007	78112533	217	33740										
NUBPL	80224	genome.wustl.edu	37	chr14	32315788	32315788	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tagcacagacccttggtcttGaagttctaggtaagactgtg	11	8	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:32315788G>C	ENST00000281081.7	+	9	850	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.E173Q	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	269					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		CCTTGGTCTTGAAGTTCTAGG	0.438																																																	0													89	84	86					14																	32315788		1915	4123	6038	SO:0001583	missense	80224			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"Mitochondrial respiratory chain complex assembly factors"	20278	protein-coding gene	gene with protein product	"iron-sulfur protein required for NADH dehydrogenase"	613621	"chromosome 14 open reading frame 127"	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.805G>C	14.37:g.32315788G>C	ENSP00000281081:p.Glu269Gln		B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1	p.E269Q	ENST00000281081.7	37	c.805	CCDS41940.1	14	.	.	.	.	.	.	.	.	.	.	G	9.994	1.231725	0.22626	.	.	ENSG00000151413	ENST00000550649;ENST00000281081;ENST00000536705	T;T;T	0.47177	0.85;0.96;0.96	5.56	5.56	0.83823	.	0.258500	0.44483	D	0.000442	T	0.38480	0.1042	L	0.33339	1.005	0.31564	N	0.657137	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.003	T	0.30416	-0.9979	10	0.17832	T	0.49	-26.4914	17.0258	0.86446	0.0:0.0:1.0:0.0	.	173;269	B4DWB0;Q8TB37	.;NUBPL_HUMAN	Q	135;269;173	ENSP00000447618:E135Q;ENSP00000281081:E269Q;ENSP00000439286:E173Q	ENSP00000281081:E269Q	E	+	1	0	NUBPL	31385539	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	3.312000	0.51927	2.621000	0.88768	0.655000	0.94253	GAA	NUBPL	-	NULL		0.438	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1	G	NM_025152		32315788	1	no_errors	ENST00000281081	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32315788	G	C	32315788	3	2	180	1	0	0	0	0	1	0	0	0	10741	1291	45	1	839	1	NUBPL	14	32315788	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	3078781	32315788	75033752	218	33741										
L2HGDH	79944	genome.wustl.edu	37	chr14	50760949	50760949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tctgggaatttcttcttgttCaacagctactataagcttca	6	9	5	0	rs75821386		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:50760949C>T	ENST00000267436.4	-	4	821	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	L2HGDH_ENST00000555423.1_Missense_Mutation_p.E142K|L2HGDH_ENST00000555610.1_Missense_Mutation_p.E142K|L2HGDH_ENST00000421284.3_Missense_Mutation_p.E142K|L2HGDH_ENST00000261699.4_Missense_Mutation_p.E142K			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	142					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TCTTCTTGTTCAACAGCTACT	0.413																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	68	64	65		424	5.2	1	14	dbSNP_133	65	0,8600		0,0,4300	no	missense	L2HGDH	NM_024884.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	142/464	50760949	1,13005	2203	4300	6503	SO:0001583	missense	79944				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.424G>A	14.37:g.50760949C>T	ENSP00000267436:p.Glu142Lys		Q9BRR1	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.E142K	ENST00000267436.4	37	c.424	CCDS9698.1	14	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362100	0.61403	2.27E-4	0.0	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000555423;ENST00000555610	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.17	5.17	0.71159	FAD dependent oxidoreductase (1);	0.091304	0.85682	D	0.000000	T	0.79713	0.4493	L	0.41824	1.3	0.80722	D	1	B;B	0.32324	0.198;0.364	B;B	0.33690	0.135;0.168	T	0.77008	-0.2747	10	0.36615	T	0.2	-20.188	12.8952	0.58095	0.0:0.9245:0.0:0.0755	.	142;142	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	K	142	ENSP00000261699:E142K;ENSP00000267436:E142K;ENSP00000405559:E142K;ENSP00000450494:E142K;ENSP00000452483:E142K	ENSP00000261699:E142K	E	-	1	0	L2HGDH	49830699	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.216000	0.51176	2.788000	0.95919	0.650000	0.86243	GAA	L2HGDH	-	pfam_FAD-dep_OxRdtase		0.413	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L2HGDH	HGNC	protein_coding	OTTHUMT00000276870.2	C	NM_024884		50760949	-1	no_errors	ENST00000267436	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50760949	C	T	50760949	3	4	180	1	0	0	0	0	1	0	0	0	8610	835	29	1	995	1	L2HGDH	14	50760949	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	18445161	50760949	56588591	219	33742										
PLEKHG3	26030	genome.wustl.edu	37	chr14	65208125	65208125	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agcaagtccagtggctttggGagcccgcggctggtcagccg	16	12	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:65208125G>A	ENST00000394691.1	+	16	2037	c.1890G>A	c.(1888-1890)ggG>ggA	p.G630G	PLEKHG3_ENST00000247226.7_Silent_p.G574G|PLEKHG3_ENST00000471182.2_Silent_p.G163G|PLEKHG3_ENST00000484731.2_Silent_p.G135G			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	630							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GTGGCTTTGGGAGCCCGCGGC	0.667																																																	0													32	38	36					14																	65208125		2203	4299	6502	SO:0001819	synonymous_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1890G>A	14.37:g.65208125G>A			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G630	ENST00000394691.1	37	c.1890		14																																																																																			PLEKHG3	-	NULL		0.667	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65208125	1	no_errors	ENST00000394691	ensembl	human	known	70_37	silent	SNP	0.077	A	A	65208125	G	A	65208125	2	1	180	1	0	0	0	0	0	0	0	1	12094	1161	41	1		1	PLEKHG3	14	65208125	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	14447176	65208125	42141415	220	33743										
TMED8	283578	genome.wustl.edu	37	chr14	77818025	77818025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aaagtggttacctgtggggtGaggagcagggttctggatcg	18	5	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:77818025G>A	ENST00000216468.7	-	2	243	c.188C>T	c.(187-189)tCa>tTa	p.S63L	RN7SL137P_ENST00000584622.1_RNA	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	63					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCTGTGGGGTGAGGAGCAGGG	0.418																																																	0													131	140	137					14																	77818025		2203	4300	6503	SO:0001583	missense	283578			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"family with sequence similarity 15, member B", "transmembrane emp24 domain containing 8"	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.188C>T	14.37:g.77818025G>A	ENSP00000216468:p.Ser63Leu		B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	superfamily_GOLD,pfscan_GOLD	p.S63L	ENST00000216468.7	37	c.188	CCDS32125.1	14	.	.	.	.	.	.	.	.	.	.	G	13.16	2.152877	0.38021	.	.	ENSG00000100580	ENST00000216468	T	0.29917	1.55	5.56	4.67	0.58626	.	1.293000	0.05222	N	0.508691	T	0.29256	0.0728	L	0.32530	0.975	0.26341	N	0.977361	B	0.09022	0.002	B	0.08055	0.003	T	0.24657	-1.0154	10	0.72032	D	0.01	-0.0038	10.4996	0.44798	0.0893:0.0:0.9107:0.0	.	63	Q6PL24	TMED8_HUMAN	L	63	ENSP00000216468:S63L	ENSP00000216468:S63L	S	-	2	0	TMED8	76887778	1.000000	0.71417	0.307000	0.25127	0.488000	0.33401	4.239000	0.58694	1.388000	0.46506	-0.155000	0.13514	TCA	TMED8	-	NULL		0.418	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED8	HGNC	protein_coding	OTTHUMT00000414100.1	G	NM_213601		77818025	-1	no_errors	ENST00000216468	ensembl	human	known	70_37	missense	SNP	0.838	A	A	77818025	G	A	77818025	3	1	180	1	0	0	0	0	1	0	0	0	16041	1294	45	1	808	1	TMED8	14	77818025	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	12609900	77818025	29531515	221	33744										
ATG2B	55102	genome.wustl.edu	37	chr14	96777609	96777609	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	atcgctggaacagtgtaactCaaagcggggctcagtctgga	13	9	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:96777609C>G	ENST00000359933.4	-	28	4899	c.4006G>C	c.(4006-4008)Gag>Cag	p.E1336Q	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1336					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGTGTAACTCAAAGCGGGGC	0.388																																																	0													109	105	106					14																	96777609		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4006G>C	14.37:g.96777609C>G	ENSP00000353010:p.Glu1336Gln		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E1336Q	ENST00000359933.4	37	c.4006	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512172	0.85389	.	.	ENSG00000066739	ENST00000359933	T	0.16597	2.33	5.48	4.57	0.56435	.	0.315851	0.33753	N	0.004594	T	0.41236	0.1150	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34329	-0.9833	10	0.59425	D	0.04	.	16.0805	0.81003	0.0:0.8658:0.1342:0.0	.	1336	Q96BY7	ATG2B_HUMAN	Q	1336	ENSP00000353010:E1336Q	ENSP00000353010:E1336Q	E	-	1	0	ATG2B	95847362	1.000000	0.71417	0.965000	0.40720	0.998000	0.95712	5.508000	0.67006	1.273000	0.44346	0.655000	0.94253	GAG	ATG2B	-	NULL		0.388	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96777609	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	G	G	96777609	C	G	96777609	3	3	180	1	0	0	0	0	1	0	0	0	1095	835	29	1	2290	1	ATG2B	14	96777609	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	18959584	96777609	10571931	222	33745										
AK7	122481	genome.wustl.edu	37	chr14	96944861	96944861	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aggagcgtgtgataaaccttCctgagagcatcgtggcgggg	16	8	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:96944861C>A	ENST00000267584.4	+	15	1659	c.1615C>A	c.(1615-1617)Cct>Act	p.P539T		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	539	Adenylate kinase.|LID. {ECO:0000250}.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GATAAACCTTCCTGAGAGCAT	0.527																																																	0													133	121	125					14																	96944861		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1615C>A	14.37:g.96944861C>A	ENSP00000267584:p.Pro539Thr		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.P539T	ENST00000267584.4	37	c.1615	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	C	16.94	3.262074	0.59431	.	.	ENSG00000140057	ENST00000267584	D	0.93712	-3.27	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.96534	0.8869	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96952	0.9695	10	0.66056	D	0.02	-19.9363	18.3825	0.90455	0.0:1.0:0.0:0.0	.	539	Q96M32	KAD7_HUMAN	T	539	ENSP00000267584:P539T	ENSP00000267584:P539T	P	+	1	0	AK7	96014614	1.000000	0.71417	0.303000	0.25071	0.101000	0.19017	5.783000	0.68982	2.340000	0.79590	0.491000	0.48974	CCT	AK7	-	NULL		0.527	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	C			96944861	1	no_errors	ENST00000267584	ensembl	human	known	70_37	missense	SNP	0.999	A	A	96944861	C	A	96944861	3	1	180	1	0	0	0	0	1	0	0	0	444	855	30	3	1673	3	AK7	14	96944861	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	167252	96944861	10404679	223	33746										
AHNAK2	113146	genome.wustl.edu	37	chr14	105420437	105420437	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gctctgcagtccctcgccttCaccctcccggctcattccag	7	20	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:105420437C>T	ENST00000333244.5	-	7	1470	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	451						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCGCCTTCACCCTCCCGG	0.612																																																	0													46	51	49					14																	105420437		2023	4174	6197	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1351G>A	14.37:g.105420437C>T	ENSP00000353114:p.Glu451Lys		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E451K	ENST00000333244.5	37	c.1351	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	12.48	1.950428	0.34377	.	.	ENSG00000185567	ENST00000333244	T	0.02737	4.18	4.65	-5.95	0.02241	.	.	.	.	.	T	0.01254	0.0041	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.48681	-0.9014	9	0.10902	T	0.67	.	1.5834	0.02639	0.1821:0.336:0.1134:0.3685	.	451	Q8IVF2	AHNK2_HUMAN	K	451	ENSP00000353114:E451K	ENSP00000353114:E451K	E	-	1	0	AHNAK2	104491482	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.649000	0.05384	-1.292000	0.02366	0.555000	0.69702	GAA	AHNAK2	-	NULL		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105420437	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	T	T	105420437	C	T	105420437	3	4	180	1	0	0	0	0	1	0	0	0	415	835	29	1	16040	1	AHNAK2	14	105420437	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	8475576	105420437	1929103	224	33747										
JAG2	3714	genome.wustl.edu	37	chr14	105611334	105611334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcaacaccagcaggcggtccCgtgccacagcccttgtggct	12	16	0	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr14:105611334C>T	ENST00000331782.3	-	24	3420	c.3017G>A	c.(3016-3018)cGg>cAg	p.R1006Q	JAG2_ENST00000347004.2_Missense_Mutation_p.R968Q	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1006					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGGCGGTCCCGTGCCACAGC	0.711																																																	0													28	31	30					14																	105611334		2195	4290	6485	SO:0001583	missense	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3017G>A	14.37:g.105611334C>T	ENSP00000328169:p.Arg1006Gln		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.R1006Q	ENST00000331782.3	37	c.3017	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	C	2.272	-0.366812	0.05069	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.85955	-2.05;-2.05	3.83	0.918	0.19386	.	0.519401	0.18031	U	0.153914	T	0.73410	0.3583	L	0.38838	1.175	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.14578	0.011;0.005	T	0.54675	-0.8258	10	0.17369	T	0.5	.	7.1728	0.25728	0.0:0.7069:0.0:0.2931	.	968;1006	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	Q	1006;968	ENSP00000328169:R1006Q;ENSP00000328566:R968Q	ENSP00000328169:R1006Q	R	-	2	0	JAG2	104682379	0.000000	0.05858	0.851000	0.33527	0.084000	0.17831	-0.335000	0.07873	-0.001000	0.14495	-0.384000	0.06662	CGG	JAG2	-	NULL		0.711	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	C			105611334	-1	no_errors	ENST00000331782	ensembl	human	known	70_37	missense	SNP	0.100	T	T	105611334	C	T	105611334	3	4	180	1	0	0	0	0	1	0	0	0	7955	652	23	2	711	2	JAG2	14	105611334	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	190897	105611334	1738206	225	33748										
CYFIP1	23191	genome.wustl.edu	37	chr15	22990104	22990104	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tacggcagctaccggaacttCgtgggacctccacactttca	9	14	1	0	rs145238748		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:22990104C>T	ENST00000313077.7	+	24	2849	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	CYFIP1_ENST00000560848.1_Silent_p.F908F|CYFIP1_ENST00000435939.2_Silent_p.F477F	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACCGGAACTTCGTGGGACCTC	0.567																																																	0								C	,	0,4406		0,0,2203	103	96	98		1431,2724	-5.3	0.8	15	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CYFIP1	NM_001033028.1,NM_014608.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	477/823,908/1254	22990104	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2724C>T	15.37:g.22990104C>T				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.F908	ENST00000313077.7	37	c.2724	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.567	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	C	NM_014608		22990104	1	no_errors	ENST00000313077	ensembl	human	known	70_37	silent	SNP	0.906	T	T	22990104	C	T	22990104	2	4	180	1	0	0	0	0	0	0	0	1	4142	883	31	1		1	CYFIP1	15	22990104	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		22990104	79541288	226	33749										
HAUS2	55142	genome.wustl.edu	37	chr15	42858841	42858841	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agatggatatattggtgactGagacagaagaactggcagag	14	4	0	6			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:42858841G>C	ENST00000260372.3	+	6	598	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	RP11-265N6.2_ENST00000567089.1_RNA|RP11-265N6.2_ENST00000561902.1_RNA|HAUS2_ENST00000568876.1_Missense_Mutation_p.E148Q	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	179					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						ATTGGTGACTGAGACAGAAGA	0.343																																																	0													79	81	80					15																	42858841		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"HAUS augmin-like complex subunits"	25530	protein-coding gene	gene with protein product		613429	"chromosome 15 open reading frame 25", "centrosomal protein 27kDa"	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.535G>C	15.37:g.42858841G>C	ENSP00000260372:p.Glu179Gln		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E179Q	ENST00000260372.3	37	c.535	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771022	0.69992	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.45276	0.9	6.05	2.85	0.33270	.	0.220504	0.45126	D	0.000389	T	0.39200	0.1069	L	0.59436	1.845	0.33673	D	0.611194	P;P	0.45902	0.675;0.868	B;B	0.44044	0.344;0.439	T	0.51505	-0.8697	10	0.42905	T	0.14	.	7.7332	0.28799	0.3006:0.0:0.6994:0.0	.	148;179	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	Q	179;148	ENSP00000260372:E179Q	ENSP00000260372:E179Q	E	+	1	0	HAUS2	40646133	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.654000	0.37334	0.299000	0.22661	-0.136000	0.14681	GAG	HAUS2	-	NULL		0.343	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42858841	1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	0.992	C	C	42858841	G	C	42858841	3	2	180	1	0	0	0	0	1	0	0	0	6986	1291	45	1	557	1	HAUS2	15	42858841	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	19868737	42858841	59672551	227	33750										
CCPG1	9236	genome.wustl.edu	37	chr15	55669316	55669316	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcactggcagttccaatataGatactgtcttcgggtatctt	8	9	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:55669316G>A	ENST00000310958.6	-	5	583	c.285C>T	c.(283-285)atC>atT	p.I95I	CCPG1_ENST00000569205.1_Silent_p.I95I|CCPG1_ENST00000442196.3_Silent_p.I95I|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Silent_p.I95I	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	95	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCCAATATAGATACTGTCTT	0.353																																																	0													121	110	113					15																	55669316		1835	4096	5931	SO:0001819	synonymous_variant	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.285C>T	15.37:g.55669316G>A			A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	NULL	p.I95	ENST00000310958.6	37	c.285	CCDS42039.1	15																																																																																			CCPG1	-	NULL		0.353	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	G	NM_004748		55669316	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	silent	SNP	0.998	A	A	55669316	G	A	55669316	2	1	180	1	0	0	0	0	0	0	0	1	2943	932	33	1		1	CCPG1	15	55669316	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	12810475	55669316	46862076	228	33751										
HERC1	8925	genome.wustl.edu	37	chr15	63932470	63932470	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tatagtggttgagaaacattCtaaccaggcccattcatttg	8	8	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:63932470C>T	ENST00000443617.2	-	61	11869	c.11782G>A	c.(11782-11784)Gaa>Aaa	p.E3928K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3928					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGAAACATTCTAACCAGGCC	0.498																																																	0													155	156	155					15																	63932470		1988	4151	6139	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11782G>A	15.37:g.63932470C>T	ENSP00000390158:p.Glu3928Lys		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E3928K	ENST00000443617.2	37	c.11782	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546040	0.65198	.	.	ENSG00000103657	ENST00000443617	T	0.22539	1.95	5.72	5.72	0.89469	.	0.130642	0.49916	D	0.000138	T	0.14700	0.0355	N	0.14661	0.345	0.50039	D	0.999845	B	0.26002	0.139	B	0.21917	0.037	T	0.12477	-1.0546	10	0.16420	T	0.52	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	3928	Q15751	HERC1_HUMAN	K	3928	ENSP00000390158:E3928K	ENSP00000390158:E3928K	E	-	1	0	HERC1	61719523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.936000	0.63506	2.711000	0.92665	0.655000	0.94253	GAA	HERC1	-	NULL		0.498	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		63932470	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63932470	C	T	63932470	3	4	180	1	0	0	0	0	1	0	0	0	7077	922	32	1	2875	1	HERC1	15	63932470	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	8263154	63932470	38598922	229	33752										
ANKDD1A	348094	genome.wustl.edu	37	chr15	65204164	65204164	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggcgtgggagaccgacggccGtgagtctgcctggaggaggg	21	9	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:65204164G>A	ENST00000380230.3	+	1	63		c.e1+1		ANKDD1A_ENST00000395720.1_Splice_Site|ANKDD1A_ENST00000491145.1_Splice_Site|ANKDD1A_ENST00000357698.3_Splice_Site|ANKDD1A_ENST00000496660.1_Splice_Site|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_Splice_Site	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A						signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACCGACGGCCGTGAGTCTGCC	0.776																																																	0													3	5	4					15																	65204164		1260	2632	3892	SO:0001630	splice_region_variant	348094				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.34+1G>A	15.37:g.65204164G>A			Q495B2|Q495B3|Q8N7A0|Q8NBS5	Splice_Site	SNP	-	e1+1	ENST00000380230.3	37	c.34+1	CCDS10197.2	15	.	.	.	.	.	.	.	.	.	.	G	9.552	1.116099	0.20795	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000319580	.	.	.	3.7	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.24512	N	0.994204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2745	0.10802	0.122:0.0:0.6525:0.2255	.	.	.	.	.	-1	.	.	.	+	.	.	ANKDD1A	62991217	0.997000	0.39634	0.023000	0.16930	0.036000	0.12997	4.178000	0.58284	0.343000	0.23821	0.491000	0.48974	.	ANKDD1A	-	-		0.776	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	HGNC	protein_coding	OTTHUMT00000256705.2	G	NM_182703	Intron	65204164	1	no_errors	ENST00000380230	ensembl	human	known	70_37	splice_site	SNP	0.122	A	A	65204164	G	A	65204164	5	1	180	1	0	0	0	0	0	0	1	0	624	1159	40	2	37	2	ANKDD1A	15	65204164	Splice_Site	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1271694	65204164	37327228	230	33753										
KIF23	9493	genome.wustl.edu	37	chr15	69730693	69730693	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gagaagatgatctcaggacaGaaattggaaatagaacgact	11	5	1	5			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:69730693G>C	ENST00000260363.4	+	15	1779	c.1662G>C	c.(1660-1662)caG>caC	p.Q554H	KIF23_ENST00000395392.2_Missense_Mutation_p.Q554H|KIF23_ENST00000537891.1_Missense_Mutation_p.Q371H|KIF23_ENST00000558585.1_Missense_Mutation_p.Q371H|KIF23_ENST00000559279.1_Missense_Mutation_p.Q554H|KIF23_ENST00000352331.4_Missense_Mutation_p.Q554H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	554					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCTCAGGACAGAAATTGGAAA	0.313																																																	0													89	92	91					15																	69730693		2199	4298	6497	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1662G>C	15.37:g.69730693G>C	ENSP00000260363:p.Gln554His		Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q554H	ENST00000260363.4	37	c.1662	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644449	0.87859	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.45	5.45	0.79879	.	0.219849	0.48767	D	0.000170	T	0.77184	0.4093	L	0.29908	0.895	0.80722	D	1	P;D;D	0.76494	0.94;0.998;0.999	P;D;D	0.80764	0.497;0.994;0.926	T	0.76756	-0.2842	10	0.41790	T	0.15	.	18.2709	0.90068	0.0:0.0:1.0:0.0	.	371;554;554	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	H	554;554;554;371	ENSP00000260363:Q554H;ENSP00000304978:Q554H;ENSP00000378790:Q554H;ENSP00000442969:Q371H	ENSP00000260363:Q554H	Q	+	3	2	KIF23	67517747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.537000	0.45702	2.538000	0.85594	0.650000	0.86243	CAG	KIF23	-	NULL		0.313	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		G			69730693	1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69730693	G	C	69730693	3	2	180	1	0	0	0	0	1	0	0	0	8311	933	33	1	1720	1	KIF23	15	69730693	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4526529	69730693	32800699	231	33754										
GOLGA6B	55889	genome.wustl.edu	37	chr15	72954664	72954664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tacaagatgaggccaaacacCtgaggcaggaggtggaaggt	15	7	0	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:72954664C>T	ENST00000421285.3	+	11	919	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	307						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGCCAAACACCTGAGGCAGGA	0.542																																																	0													20	21	21					15																	72954664		1920	3774	5694	SO:0001819	synonymous_variant	55889				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.919C>T	15.37:g.72954664C>T			A8MYY7	Silent	SNP	NULL	p.L307	ENST00000421285.3	37	c.919	CCDS10245.2	15																																																																																			GOLGA6B	-	NULL		0.542	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6B	HGNC	protein_coding	OTTHUMT00000257474.4	C	NM_018652		72954664	1	no_errors	ENST00000421285	ensembl	human	known	70_37	silent	SNP	0.993	T	T	72954664	C	T	72954664	2	4	180	1	0	0	0	0	0	0	0	1	6577	680	24	4		4	GOLGA6B	15	72954664	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3223971	72954664	29576728	232	33755										
HCN4	10021	genome.wustl.edu	37	chr15	73622056	73622056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acatgcccacgggcgcctgcCgcccgtagccgatgcacagc	12	18	0	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:73622056C>T	ENST00000261917.3	-	4	2441	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	483					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R483Q(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGCGCCTGCCGCCCGTAGCC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											75	71	72					15																	73622056		2198	4297	6495	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1448G>A	15.37:g.73622056C>T	ENSP00000261917:p.Arg483Gln		Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R483Q	ENST00000261917.3	37	c.1448	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934891	0.34189	.	.	ENSG00000138622	ENST00000261917	D	0.97378	-4.36	4.16	1.78	0.24846	Ion transport (1);	.	.	.	.	D	0.90724	0.7089	N	0.20986	0.625	0.40603	D	0.981607	B	0.06786	0.001	B	0.01281	0.0	T	0.82788	-0.0284	9	0.16420	T	0.52	.	4.3053	0.10944	0.0:0.4374:0.0:0.5626	.	483	Q9Y3Q4	HCN4_HUMAN	Q	483	ENSP00000261917:R483Q	ENSP00000261917:R483Q	R	-	2	0	HCN4	71409109	1.000000	0.71417	0.850000	0.33497	0.566000	0.35808	4.178000	0.58284	0.865000	0.35603	0.561000	0.74099	CGG	HCN4	-	pfam_Ion_trans_dom		0.632	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	C	NM_005477		73622056	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	missense	SNP	0.990	T	T	73622056	C	T	73622056	3	4	180	1	0	0	0	0	1	0	0	0	7019	652	23	2	2183	2	HCN4	15	73622056	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	667392	73622056	28909336	233	33756										
FAM154B	283726	genome.wustl.edu	37	chr15	82574786	82574786	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	actttcagggtctcattggtGaaactgcaaaactctgcaga	9	9	3	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:82574786G>C	ENST00000339465.5	+	3	649	c.580G>C	c.(580-582)Gaa>Caa	p.E194Q	FAM154B_ENST00000427381.2_Missense_Mutation_p.E179Q|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	194										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCTCATTGGTGAAACTGCAAA	0.443																																																	0													57	54	55					15																	82574786		2203	4300	6503	SO:0001583	missense	283726			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.580G>C	15.37:g.82574786G>C	ENSP00000340445:p.Glu194Gln		B4E2M2	Missense_Mutation	SNP	NULL	p.E194Q	ENST00000339465.5	37	c.580	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417476	0.25552	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.18657	2.2;2.2	3.9	2.92	0.33932	.	0.454285	0.20343	N	0.094195	T	0.25306	0.0615	L	0.58101	1.795	0.24104	N	0.995869	P;P	0.44090	0.826;0.683	P;B	0.44359	0.447;0.209	T	0.07597	-1.0764	10	0.29301	T	0.29	-13.9202	13.4321	0.61062	0.0:0.299:0.701:0.0	.	179;194	B4E2M2;Q658L1	.;F154B_HUMAN	Q	194;179	ENSP00000340445:E194Q;ENSP00000403743:E179Q	ENSP00000340445:E194Q	E	+	1	0	FAM154B	80361841	0.973000	0.33851	0.524000	0.27887	0.682000	0.39822	1.787000	0.38704	0.900000	0.36469	0.536000	0.68110	GAA	FAM154B	-	NULL		0.443	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	HGNC	protein_coding	OTTHUMT00000419644.1	G	NM_001008226		82574786	1	no_errors	ENST00000339465	ensembl	human	known	70_37	missense	SNP	0.517	C	C	82574786	G	C	82574786	3	2	180	1	0	0	0	0	1	0	0	0	5479	1291	45	1	590	1	FAM154B	15	82574786	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	8952730	82574786	19956606	234	33757										
ZSCAN2	54993	genome.wustl.edu	37	chr15	85164941	85164941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gagaaaccctacaaatgcagCgagtgtgggaaatgcttcag	12	8	1	1	rs141281638		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr15:85164941C>T	ENST00000448803.2	+	3	1807	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	ZSCAN2_ENST00000546148.1_Silent_p.S505S|ZSCAN2_ENST00000327179.6_Silent_p.S504S|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.S355S|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	505					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S505S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACAAATGCAGCGAGTGTGGGA	0.587																																																	1	Substitution - coding silent(1)	large_intestine(1)						C		1,4405	2.1+/-5.4	0,1,2202	97	94	95		1515	-5.1	0	15	dbSNP_134	95	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZSCAN2	NM_181877.3		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		505/615	85164941	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1515C>T	15.37:g.85164941C>T			A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S505	ENST00000448803.2	37	c.1515	CCDS10329.2	15																																																																																			ZSCAN2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.587	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	C	NM_017894		85164941	1	no_errors	ENST00000448803	ensembl	human	known	70_37	silent	SNP	0.000	T	T	85164941	C	T	85164941	2	4	180	1	0	0	0	0	0	0	0	1	18261	767	27	2		2	ZSCAN2	15	85164941	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2590155	85164941	17366451	235	33758										
IFT140	9742	genome.wustl.edu	37	chr16	1573871	1573871	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgtccatctgcacgcccttCtcctcgtagtatcgggccgc	9	17	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:1573871C>G	ENST00000426508.2	-	25	3591	c.3228G>C	c.(3226-3228)gaG>gaC	p.E1076D	IFT140_ENST00000361339.5_Missense_Mutation_p.E270D	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1076					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCACGCCCTTCTCCTCGTAGT	0.667																																																	0													76	59	64					16																	1573871		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3228G>C	16.37:g.1573871C>G	ENSP00000406012:p.Glu1076Asp		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1076D	ENST00000426508.2	37	c.3228	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813810	0.32053	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.41758	0.99;0.99	5.65	2.66	0.31614	.	0.056027	0.64402	N	0.000001	T	0.27027	0.0662	L	0.36672	1.1	0.46725	D	0.99917	B;B	0.16166	0.011;0.016	B;B	0.18561	0.015;0.022	T	0.06092	-1.0846	10	0.12430	T	0.62	.	6.9956	0.24780	0.0:0.6151:0.1264:0.2585	.	1076;763	Q96RY7;B4DR58	IF140_HUMAN;.	D	1076;270;1076	ENSP00000354895:E270D;ENSP00000406012:E1076D	ENSP00000354895:E270D	E	-	3	2	IFT140	1513872	0.987000	0.35691	0.999000	0.59377	0.664000	0.39144	0.345000	0.19979	0.342000	0.23796	0.609000	0.83330	GAG	IFT140	-	NULL		0.667	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	C	NM_014714		1573871	-1	no_errors	ENST00000426508	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1573871	C	G	1573871	3	3	180	1	0	0	0	0	1	0	0	0	7576	912	32	1	1188	1	IFT140	16	1573871	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		1573871	88780882	236	33759										
C16orf59	80178	genome.wustl.edu	37	chr16	2514077	2514077	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccaagaccatgtcctgtgggGaggccccccggagcctcgcc	13	17	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:2514077G>A	ENST00000361837.4	+	9	1067	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	C16orf59_ENST00000569496.1_Silent_p.G334G|RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000483320.1_Silent_p.G167G|C16orf59_ENST00000563531.1_Silent_p.G334G	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	334										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GTCCTGTGGGGAGGCCCCCCG	0.667																																																	0													21	26	24					16																	2514077		1955	4136	6091	SO:0001819	synonymous_variant	80178			AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.1002G>A	16.37:g.2514077G>A			B4DXD7|Q96H61|Q9H872	Silent	SNP	NULL	p.G334	ENST00000361837.4	37	c.1002	CCDS10468.2	16																																																																																			C16orf59	-	NULL		0.667	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf59	HGNC	protein_coding	OTTHUMT00000250802.3	G	NM_025108		2514077	1	no_errors	ENST00000361837	ensembl	human	known	70_37	silent	SNP	0.000	A	A	2514077	G	A	2514077	2	1	180	1	0	0	0	0	0	0	0	1	1827	1161	41	1		1	C16orf59	16	2514077	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	940206	2514077	87840676	237	33760										
NLRC3	197358	genome.wustl.edu	37	chr16	3613354	3613354	+	RNA	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gccagcagggagccggccagGagggcattgaccctcggaga	17	12	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:3613354G>C	ENST00000301749.7	-	0	1989				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCGGCCAGGAGGGCATTGA	0.701																																																	0													7	9	8					16																	3613354		2070	4177	6247			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613354G>C			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L575	ENST00000301749.7	37	c.1725		16																																																																																			NLRC3	-	NULL		0.701	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		G	NM_178844		3613354	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	silent	SNP	0.963	C	C	3613354	G	C	3613354	1	2	180	0	1	0	0	0	0	0	0	0	10492	1161	41	1		1	NLRC3	16	3613354	RNA	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1099277	3613354	86741399	238	33761										
ERCC4	2072	genome.wustl.edu	37	chr16	14041676	14041676	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tctttaaataacggccgcctCtacagccagtgcatctccat	6	14	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:14041676C>G	ENST00000311895.7	+	11	2232	c.2223C>G	c.(2221-2223)ctC>ctG	p.L741L		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	741	ERCC4.|Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ACGGCCGCCTCTACAGCCAGT	0.507			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0													87	86	86					16																	14041676		2197	4300	6497	SO:0001819	synonymous_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2223C>G	16.37:g.14041676C>G			A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.L741	ENST00000311895.7	37	c.2223	CCDS32390.1	16																																																																																			ERCC4	-	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain,tigrfam_Rad1		0.507	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	C	NM_005236		14041676	1	no_errors	ENST00000311895	ensembl	human	known	70_37	silent	SNP	0.109	G	G	14041676	C	G	14041676	2	3	180	1	0	0	0	0	0	0	0	1	5227	900	32	1		1	ERCC4	16	14041676	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	10428322	14041676	76313077	239	33762										
EEF2K	29904	genome.wustl.edu	37	chr16	22237288	22237288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggtccccggcaaactccttcCacttcaaggtgagtgagcca	10	14	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:22237288C>T	ENST00000263026.5	+	2	712	c.238C>T	c.(238-240)Cac>Tac	p.H80Y		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	80					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AAACTCCTTCCACTTCAAGGT	0.507																																					NSCLC(195;1411 2157 20319 27471 51856)												0													62	59	60					16																	22237288		2197	4300	6497	SO:0001583	missense	29904			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.238C>T	16.37:g.22237288C>T	ENSP00000263026:p.His80Tyr		Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.H80Y	ENST00000263026.5	37	c.238	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	C	9.043	0.990165	0.18966	.	.	ENSG00000103319	ENST00000263026	T	0.06068	3.35	5.79	4.82	0.62117	Protein kinase-like domain (1);	0.542979	0.20306	N	0.094935	T	0.04543	0.0124	L	0.36672	1.1	0.34416	D	0.696903	P	0.34934	0.476	B	0.24974	0.057	T	0.07443	-1.0772	10	0.02654	T	1	-7.4598	13.2478	0.60033	0.4793:0.5207:0.0:0.0	.	80	O00418	EF2K_HUMAN	Y	80	ENSP00000263026:H80Y	ENSP00000263026:H80Y	H	+	1	0	EEF2K	22144789	1.000000	0.71417	0.992000	0.48379	0.150000	0.21749	2.153000	0.42282	1.368000	0.46115	0.650000	0.86243	CAC	EEF2K	-	superfamily_Kinase-like_dom,pirsf_Elongation_factor_2_kinase		0.507	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	C	NM_013302		22237288	1	no_errors	ENST00000263026	ensembl	human	known	70_37	missense	SNP	0.996	T	T	22237288	C	T	22237288	3	4	180	1	0	0	0	0	1	0	0	0	4940	594	21	4	240	4	EEF2K	16	22237288	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	8195612	22237288	68117465	240	33763										
KIAA0556	23247	genome.wustl.edu	37	chr16	27692767	27692767	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	caaagcggaaggacaatgctGaggttttcgttcccaccaaa	10	10	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:27692767G>A	ENST00000261588.4	+	8	875	c.856G>A	c.(856-858)Gag>Aag	p.E286K	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	286						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGACAATGCTGAGGTTTTCGT	0.502																																																	0													186	188	187					16																	27692767		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.856G>A	16.37:g.27692767G>A	ENSP00000261588:p.Glu286Lys		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.E286K	ENST00000261588.4	37	c.856	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410847	0.62399	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.13089	2.62	5.4	5.4	0.78164	.	0.291124	0.30547	N	0.009386	T	0.38081	0.1027	M	0.76328	2.33	0.40719	D	0.982646	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.18903	-1.0322	10	0.72032	D	0.01	-4.8579	14.6685	0.68926	0.0:0.0:1.0:0.0	.	194;286	Q8N803;O60303	.;K0556_HUMAN	K	286;193	ENSP00000261588:E286K	ENSP00000261588:E286K	E	+	1	0	KIAA0556	27600268	1.000000	0.71417	0.950000	0.38849	0.133000	0.20885	5.322000	0.65852	2.526000	0.85167	0.563000	0.77884	GAG	KIAA0556	-	NULL		0.502	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	G	NM_015202		27692767	1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.999	A	A	27692767	G	A	27692767	3	1	180	1	0	0	0	0	1	0	0	0	8203	1291	45	1	886	1	KIAA0556	16	27692767	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	5455479	27692767	62661986	241	33764										
MVP	9961	genome.wustl.edu	37	chr16	29859269	29859269	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cccagtctgctcaggcccctCaagctcctggagacaaccac	8	18	3	1	rs573639782		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:29859269C>G	ENST00000357402.5	+	15	2779	c.2641C>G	c.(2641-2643)Caa>Gaa	p.Q881E	MVP_ENST00000395353.1_Missense_Mutation_p.Q881E	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	881					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCAGGCCCCTCAAGCTCCTGG	0.582																																																	0													41	45	44					16																	29859269		2197	4300	6497	SO:0001583	missense	9961			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2641C>G	16.37:g.29859269C>G	ENSP00000349977:p.Gln881Glu		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.Q881E	ENST00000357402.5	37	c.2641	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123950	0.20959	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.30981	1.51;1.51	4.96	-0.679	0.11350	.	1.315340	0.05435	N	0.546650	T	0.15305	0.0369	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	10	0.08179	T	0.78	-4.4774	1.4309	0.02333	0.2585:0.3315:0.2529:0.1571	.	881	Q14764	MVP_HUMAN	E	881	ENSP00000349977:Q881E;ENSP00000378760:Q881E	ENSP00000349977:Q881E	Q	+	1	0	MVP	29766770	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.418000	0.07080	-0.154000	0.11118	-0.256000	0.11100	CAA	MVP	-	NULL		0.582	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	C	NM_005115		29859269	1	no_errors	ENST00000357402	ensembl	human	known	70_37	missense	SNP	0.000	G	G	29859269	C	G	29859269	3	3	180	1	0	0	0	0	1	0	0	0	10019	827	29	1	2695	1	MVP	16	29859269	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2166502	29859269	60495484	242	33765										
RSPRY1	89970	genome.wustl.edu	37	chr16	57254652	57254652	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tttcttttgcagttttaaaaGaaggtagacagctgacctat	8	6	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:57254652G>A	ENST00000537866.1	+	9	1783	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	RSPRY1_ENST00000394420.4_Missense_Mutation_p.E304K			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGTTTTAAAAGAAGGTAGACA	0.443																																																	0													120	105	110					16																	57254652		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.910G>A	16.37:g.57254652G>A	ENSP00000443176:p.Glu304Lys		Q6UX21|Q8ND53	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.E304K	ENST00000537866.1	37	c.910	CCDS10775.1	16	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826497	0.90955	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.64803	-0.12;-0.12	5.43	5.43	0.79202	B30.2/SPRY domain (1);	0.095551	0.64402	D	0.000001	T	0.59783	0.2219	M	0.64404	1.975	0.80722	D	1	P	0.45348	0.856	B	0.36186	0.219	T	0.64580	-0.6374	10	0.41790	T	0.15	.	19.2689	0.94000	0.0:0.0:1.0:0.0	.	304	Q96DX4	RSPRY_HUMAN	K	304	ENSP00000377942:E304K;ENSP00000443176:E304K	ENSP00000377942:E304K	E	+	1	0	RSPRY1	55812153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.758000	0.98927	2.546000	0.85860	0.655000	0.94253	GAA	RSPRY1	-	pfscan_B30.2/SPRY		0.443	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSPRY1	HGNC	protein_coding	OTTHUMT00000432953.1	G	NM_133368		57254652	1	no_errors	ENST00000394420	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57254652	G	A	57254652	3	1	180	1	0	0	0	0	1	0	0	0	13743	943	33	1	940	1	RSPRY1	16	57254652	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	27395383	57254652	33100101	243	33766										
ZFHX3	463	genome.wustl.edu	37	chr16	72831666	72831666	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aatactgctgctgttcccagTcccattgctgctgccacttg	8	14	0	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:72831666T>C	ENST00000268489.5	-	9	5587	c.4915A>G	c.(4915-4917)Act>Gct	p.T1639A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T725A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1639					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTCCCAGTCCCATTGCTG	0.557																																																	0													76	72	74					16																	72831666		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4915A>G	16.37:g.72831666T>C	ENSP00000268489:p.Thr1639Ala		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.T1639A	ENST00000268489.5	37	c.4915	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	T	2.991	-0.208062	0.06180	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72835	-0.69;-0.68	5.58	5.58	0.84498	.	0.123569	0.36234	N	0.002706	T	0.55784	0.1942	L	0.34521	1.04	0.37770	D	0.926653	B	0.02656	0.0	B	0.04013	0.001	T	0.53927	-0.8369	10	0.11182	T	0.66	.	10.7295	0.46087	0.0:0.0804:0.0:0.9196	.	1639	Q15911	ZFHX3_HUMAN	A	1639;725	ENSP00000268489:T1639A;ENSP00000438926:T725A	ENSP00000268489:T1639A	T	-	1	0	ZFHX3	71389167	0.956000	0.32656	1.000000	0.80357	0.451000	0.32288	1.073000	0.30691	2.250000	0.74265	0.533000	0.62120	ACT	ZFHX3	-	NULL		0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	T	NM_006885		72831666	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72831666	T	C	72831666	3	2	180	1	0	0	0	0	1	0	0	0	17664	1667	58	5	6204	5	ZFHX3	16	72831666	Missense_Mutation	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	15577014	72831666	17523087	244	33767										
IL17C	27189	genome.wustl.edu	37	chr16	88705717	88705717	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	catctcaccctggagataccGgtgaggacctggggattccg	13	12	1	2	rs368594752		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr16:88705717G>A	ENST00000244241.4	+	2	384	c.335G>A	c.(334-336)cGt>cAt	p.R112H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	112					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		TGGAGATACCGGTGAGGACCT	0.687																																																	0													12	16	14					16																	88705717		2131	4258	6389	SO:0001630	splice_region_variant	27189			AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.335+1G>A	16.37:g.88705717G>A			Q3MIG8|Q9HC75	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.R112H	ENST00000244241.4	37	c.335	CCDS42217.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022261	0.75275	.	.	ENSG00000124391	ENST00000244241	T	0.55588	0.51	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000022	T	0.66597	0.2805	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.66240	-0.5973	10	0.42905	T	0.14	-32.2782	11.4937	0.50396	0.0:0.182:0.818:0.0	.	112	Q9P0M4	IL17C_HUMAN	H	112	ENSP00000244241:R112H	ENSP00000244241:R112H	R	+	2	0	IL17C	87233218	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.882000	0.48546	2.262000	0.75019	0.561000	0.74099	CGT	IL17C	-	pfam_Interleukin-17,prints_Interleukin-17_chordata		0.687	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17C	HGNC	protein_coding	OTTHUMT00000422575.1	G	NM_013278	Missense_Mutation	88705717	1	no_errors	ENST00000244241	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88705717	G	A	88705717	5	1	180	1	0	0	0	0	0	0	1	0	7656	1130	39	2	341	2	IL17C	16	88705717	Splice_Site	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	15874051	88705717	1649036	245	33768										
GLTPD2	388323	genome.wustl.edu	37	chr17	4693081	4693081	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	actcccctcggctccgtcttCgccttcgccactagggaggc	10	18	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:4693081C>T	ENST00000331264.7	+	4	419	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	122						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GCTCCGTCTTCGCCTTCGCCA	0.687																																																	0													19	19	19					17																	4693081		2182	4252	6434	SO:0001819	synonymous_variant	388323			BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.366C>T	17.37:g.4693081C>T			A7E2T2	Silent	SNP	pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom	p.F122	ENST00000331264.7	37	c.366	CCDS32534.1	17																																																																																			GLTPD2	-	pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom		0.687	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTPD2	HGNC	protein_coding	OTTHUMT00000439781.1	C	NM_001014985		4693081	1	no_errors	ENST00000331264	ensembl	human	known	70_37	silent	SNP	0.962	T	T	4693081	C	T	4693081	2	4	180	1	0	0	0	0	0	0	0	1	6492	883	31	1		1	GLTPD2	17	4693081	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		4693081	76502129	246	33769										
FLII	2314	genome.wustl.edu	37	chr17	18160237	18160237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccttaccagcttctgcagggCggccagctcctcgggcaggt	13	15	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:18160237C>T	ENST00000327031.4	-	2	385	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	FLII_ENST00000584444.1_5'UTR|FLII_ENST00000545457.2_Missense_Mutation_p.A54T|FLII_ENST00000579294.1_Missense_Mutation_p.A43T|FLII_ENST00000379450.4_Missense_Mutation_p.A23T|FLII_ENST00000578558.1_Missense_Mutation_p.A54T	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	54	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TTCTGCAGGGCGGCCAGCTCC	0.647																																																	0													20	20	20					17																	18160237		2200	4299	6499	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.160G>A	17.37:g.18160237C>T	ENSP00000324573:p.Ala54Thr		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.A54T	ENST00000327031.4	37	c.160	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737477	0.30774	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.36699	1.24;1.87;1.85	5.12	3.08	0.35506	.	0.108255	0.64402	D	0.000006	T	0.22781	0.0550	L	0.29908	0.895	0.31932	N	0.612052	B;B;B;B	0.30889	0.1;0.1;0.299;0.054	B;B;B;B	0.21151	0.033;0.033;0.024;0.03	T	0.17592	-1.0364	10	0.15499	T	0.54	-14.2014	13.4174	0.60976	0.5402:0.4597:0.0:0.0	.	23;23;54;54	E7EPM0;B4DIL0;F5H407;Q13045	.;.;.;FLII_HUMAN	T	54;54;23	ENSP00000324573:A54T;ENSP00000438536:A54T;ENSP00000368763:A23T	ENSP00000324573:A54T	A	-	1	0	FLII	18100962	0.912000	0.30974	0.783000	0.31826	0.979000	0.70002	1.873000	0.39558	0.519000	0.28406	0.511000	0.50034	GCC	FLII	-	NULL		0.647	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	C	NM_002018		18160237	-1	no_errors	ENST00000327031	ensembl	human	known	70_37	missense	SNP	0.531	T	T	18160237	C	T	18160237	3	4	180	1	0	0	0	0	1	0	0	0	5943	768	27	2	3765	2	FLII	17	18160237	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	13467156	18160237	63034973	247	33770										
TNS4	84951	genome.wustl.edu	37	chr17	38638451	38638451	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgctggcacacgaaggcagaGaggctccctgaaaggaagca	14	10	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:38638451G>C	ENST00000254051.6	-	8	1760	c.1602C>G	c.(1600-1602)ctC>ctG	p.L534L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	534	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CGAAGGCAGAGAGGCTCCCTG	0.627																																																	0													57	53	54					17																	38638451		2203	4300	6503	SO:0001819	synonymous_variant	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1602C>G	17.37:g.38638451G>C			A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.L534	ENST00000254051.6	37	c.1602	CCDS11368.1	17																																																																																			TNS4	-	pfam_SH2,smart_SH2,pfscan_SH2		0.627	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	G	NM_032865		38638451	-1	no_errors	ENST00000254051	ensembl	human	known	70_37	silent	SNP	0.981	C	C	38638451	G	C	38638451	2	2	180	1	0	0	0	0	0	0	0	1	16375	929	33	1		1	TNS4	17	38638451	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	20478214	38638451	42556759	248	33771										
TTC25	1267	genome.wustl.edu	37	chr17	40117340	40117340	+	5'Flank	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggaggccttcgggagaattaGagcaaagactctcaggagaa	14	7	1	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:40117340G>C	ENST00000393892.3	+	0	0				CNP_ENST00000472031.1_5'Flank|TTC25_ENST00000591658.1_RNA|CNP_ENST00000591072.1_5'Flank|CNP_ENST00000393888.1_5'Flank	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGAGAATTAGAGCAAAGACT	0.448																																																	0													51	49	49					17																	40117340		1837	4084	5921	SO:0001631	upstream_gene_variant	83538				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502		17.37:g.40117340G>C	Exception_encountered			RNA	SNP	-	NULL	ENST00000393892.3	37	NULL	CCDS11414.2	17																																																																																			TTC25	-	-		0.448	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC25	HGNC	protein_coding	OTTHUMT00000257443.2	G			40117340	1	no_errors	ENST00000377540	ensembl	human	known	70_37	rna	SNP	0.000	C	C	40117340	G	C	40117340	1	2	180	0	1	0	0	0	0	0	0	0	16724	943	33	1		1	TTC25	17	40117340	5'Flank	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1478889	40117340	41077870	249	33772										
OSBPL7	114881	genome.wustl.edu	37	chr17	45886521	45886521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttcccaaagagtcggtggagGacacggccactccgactgag	13	12	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:45886521G>A	ENST00000007414.3	-	20	2282	c.2091C>T	c.(2089-2091)gtC>gtT	p.V697V	OSBPL7_ENST00000392507.3_Silent_p.V697V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	697					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GTCGGTGGAGGACACGGCCAC	0.632																																																	0													52	55	54					17																	45886521		2203	4300	6503	SO:0001819	synonymous_variant	114881			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2091C>T	17.37:g.45886521G>A			D3DTT6|Q6PIV6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V697	ENST00000007414.3	37	c.2091	CCDS11515.1	17																																																																																			OSBPL7	-	pfam_Oxysterol-bd		0.632	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL7	HGNC	protein_coding	OTTHUMT00000441367.1	G	NM_017731		45886521	-1	no_errors	ENST00000007414	ensembl	human	known	70_37	silent	SNP	0.991	A	A	45886521	G	A	45886521	2	1	180	1	0	0	0	0	0	0	0	1	11306	1161	41	1		1	OSBPL7	17	45886521	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	5769181	45886521	35308689	250	33773										
IGF2BP1	10642	genome.wustl.edu	37	chr17	47121448	47121448	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tttgccagcgcctccatcaaGgtgatctgctctgtgggtct	11	12	4	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:47121448G>C	ENST00000290341.3	+	11	1654	c.1320G>C	c.(1318-1320)aaG>aaC	p.K440N	IGF2BP1_ENST00000431824.2_Splice_Site_p.K301N	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	440	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCCATCAAGGTGATCTGCT	0.542																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													100	98	99					17																	47121448		2203	4300	6503	SO:0001630	splice_region_variant	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1320+1G>C	17.37:g.47121448G>C			C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.K440N	ENST00000290341.3	37	c.1320	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.374936	0.95923	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.30448	1.53;1.53	5.9	5.9	0.94986	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.047938	0.85682	D	0.000000	T	0.55625	0.1932	M	0.62723	1.935	0.80722	D	1	P;D	0.67145	0.856;0.996	P;D	0.75484	0.5;0.986	T	0.53472	-0.8434	10	0.66056	D	0.02	-31.7537	19.0379	0.92986	0.0:0.0:1.0:0.0	.	301;440	C9JT33;Q9NZI8	.;IF2B1_HUMAN	N	440;301	ENSP00000290341:K440N;ENSP00000389135:K301N	ENSP00000290341:K440N	K	+	3	2	IGF2BP1	44476447	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.835000	0.99442	2.786000	0.95864	0.561000	0.74099	AAG	IGF2BP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.542	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	G	NM_006546	Missense_Mutation	47121448	1	no_errors	ENST00000290341	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47121448	G	C	47121448	5	2	180	1	0	0	0	0	0	0	1	0	7593	1014	35	4	1362	4	IGF2BP1	17	47121448	Splice_Site	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1234927	47121448	34073762	251	33774										
LPO	4025	genome.wustl.edu	37	chr17	56332227	56332227	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acatcccacaccctctttctCcgcgagcataaccggctggc	7	18	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:56332227C>T	ENST00000262290.4	+	9	1477	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	LPO_ENST00000543544.1_Silent_p.L328L|LPO_ENST00000582328.1_Silent_p.L304L|LPO_ENST00000421678.2_Silent_p.L304L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	387					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCCTCTTTCTCCGCGAGCATA	0.557																																																	0													98	98	98					17																	56332227		2203	4300	6503	SO:0001819	synonymous_variant	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1161C>T	17.37:g.56332227C>T			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L387	ENST00000262290.4	37	c.1161	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56332227	1	no_errors	ENST00000262290	ensembl	human	known	70_37	silent	SNP	1.000	T	T	56332227	C	T	56332227	2	4	180	1	0	0	0	0	0	0	0	1	8945	842	30	1		1	LPO	17	56332227	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	9210779	56332227	24862983	252	33775										
BZRAP1	9256	genome.wustl.edu	37	chr17	56399684	56399684	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cccacctgctgcagtctccgGacctcctcctgcttctcccg	7	21	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:56399684G>A	ENST00000343736.4	-	10	1570	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	BZRAP1_ENST00000268893.6_Silent_p.V409V|BZRAP1_ENST00000355701.3_Silent_p.V469V			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	469						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTCTCCGGACCTCCTCCT	0.627																																																	0													59	62	61					17																	56399684		2203	4300	6503	SO:0001819	synonymous_variant	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1407C>T	17.37:g.56399684G>A			O75111|Q8N5W3	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.V469	ENST00000343736.4	37	c.1407	CCDS11605.1	17																																																																																			BZRAP1	-	NULL		0.627	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	G	NM_004758		56399684	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56399684	G	A	56399684	2	1	180	1	0	0	0	0	0	0	0	1	1580	1161	41	1		1	BZRAP1	17	56399684	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	67457	56399684	24795526	253	33776										
MTMR4	9110	genome.wustl.edu	37	chr17	56582214	56582214	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cggtgtgcggtcccagccatCtgagcagtgtaccagcacag	13	13	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:56582214C>G	ENST00000323456.5	-	12	1349	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	MTMR4_ENST00000579925.1_Missense_Mutation_p.D409H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	409	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCCAGCCATCTGAGCAGTGT	0.532																																																	0													125	116	119					17																	56582214		2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1225G>C	17.37:g.56582214C>G	ENSP00000325285:p.Asp409His		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.D409H	ENST00000323456.5	37	c.1225	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602680	0.87157	.	.	ENSG00000108389	ENST00000323456	D	0.95205	-3.64	5.58	5.58	0.84498	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99023	1.0818	10	0.87932	D	0	.	18.9118	0.92489	0.0:1.0:0.0:0.0	.	409	Q9NYA4	MTMR4_HUMAN	H	409	ENSP00000325285:D409H	ENSP00000325285:D409H	D	-	1	0	MTMR4	53937213	1.000000	0.71417	0.195000	0.23364	0.724000	0.41520	7.776000	0.85560	2.790000	0.95986	0.591000	0.81541	GAT	MTMR4	-	pfscan_Tyr/Dual-specificity_Pase		0.532	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	C	NM_004687		56582214	-1	no_errors	ENST00000323456	ensembl	human	known	70_37	missense	SNP	0.998	G	G	56582214	C	G	56582214	3	3	180	1	0	0	0	0	1	0	0	0	9969	913	32	1	2394	1	MTMR4	17	56582214	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	182530	56582214	24612996	254	33777										
TEX14	56155	genome.wustl.edu	37	chr17	56682358	56682358	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cctgttaaaatctcctgcatGatcatagaaaagctgtagat	7	8	2	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:56682358G>A	ENST00000240361.8	-	11	1420	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	TEX14_ENST00000389934.3_Silent_p.I439I|TEX14_ENST00000349033.5_Silent_p.I439I			Q8IWB6	TEX14_HUMAN	testis expressed 14	445	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCCTGCATGATCATAGAAA	0.448																																																	0													169	151	157					17																	56682358		2203	4300	6503	SO:0001819	synonymous_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1335C>T	17.37:g.56682358G>A			A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.I445	ENST00000240361.8	37	c.1335	CCDS56042.1	17																																																																																			TEX14	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.448	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	G			56682358	-1	no_errors	ENST00000240361	ensembl	human	known	70_37	silent	SNP	0.965	A	A	56682358	G	A	56682358	2	1	180	1	0	0	0	0	0	0	0	1	15808	1280	45	1		1	TEX14	17	56682358	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	100144	56682358	24512852	255	33778										
HELZ	9931	genome.wustl.edu	37	chr17	65132168	65132168	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcttgtgatggcagtattgaGaagcttgtagttagataaaa	11	3	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:65132168G>C	ENST00000358691.5	-	23	3266	c.3100C>G	c.(3100-3102)Ctc>Gtc	p.L1034V	HELZ_ENST00000580168.1_Missense_Mutation_p.L1035V	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1034						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GCAGTATTGAGAAGCTTGTAG	0.388																																																	0													113	111	112					17																	65132168		1886	4115	6001	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3100C>G	17.37:g.65132168G>C	ENSP00000351524:p.Leu1034Val		I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.L1034V	ENST00000358691.5	37	c.3100	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514572	0.44763	.	.	ENSG00000198265	ENST00000358691	D	0.94897	-3.55	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.97588	1.0115	10	0.87932	D	0	-10.758	18.5448	0.91042	0.0:0.0:1.0:0.0	.	1035;1034	B7ZLW2;P42694	.;HELZ_HUMAN	V	1034	ENSP00000351524:L1034V	ENSP00000351524:L1034V	L	-	1	0	HELZ	62562630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.589000	0.82641	2.447000	0.82792	0.591000	0.81541	CTC	HELZ	-	NULL		0.388	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	G	NM_014877		65132168	-1	no_errors	ENST00000358691	ensembl	human	known	70_37	missense	SNP	1.000	C	C	65132168	G	C	65132168	3	2	180	1	0	0	0	0	1	0	0	0	7069	942	33	1	2772	1	HELZ	17	65132168	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	8449810	65132168	16063042	256	33779										
USP36	57602	genome.wustl.edu	37	chr17	76799495	76799495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aagtgggtcctggtgcaggcCgccttcttcaccaagacctt	11	13	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr17:76799495C>T	ENST00000542802.3	-	16	3225	c.2782G>A	c.(2782-2784)Ggc>Agc	p.G928S	USP36_ENST00000312010.6_Missense_Mutation_p.G928S|USP36_ENST00000449938.2_Missense_Mutation_p.G533S			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	928					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.G928S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TGGTGCAGGCCGCCTTCTTCA	0.577																																																	2	Substitution - Missense(2)	lung(2)											74	66	69					17																	76799495		2203	4300	6503	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2782G>A	17.37:g.76799495C>T	ENSP00000441214:p.Gly928Ser		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.G928S	ENST00000542802.3	37	c.2782	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028068	0.35797	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.16457	3.42;2.34;3.42	5.03	-10.1	0.00402	.	1.647360	0.02940	N	0.140364	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	B;B	0.19935	0.015;0.04	B;B	0.10450	0.002;0.005	T	0.17868	-1.0355	10	0.08837	T	0.75	-0.0378	6.2786	0.20995	0.1233:0.6546:0.0933:0.1288	.	928;928	Q9P275;Q9P275-2	UBP36_HUMAN;.	S	928;533;928	ENSP00000310590:G928S;ENSP00000401119:G533S;ENSP00000441214:G928S	ENSP00000310590:G928S	G	-	1	0	USP36	74311090	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-3.710000	0.00387	-2.535000	0.00489	0.655000	0.94253	GGC	USP36	-	NULL		0.577	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	C	NM_025090		76799495	-1	no_errors	ENST00000312010	ensembl	human	known	70_37	missense	SNP	0.000	T	T	76799495	C	T	76799495	3	4	180	1	0	0	0	0	1	0	0	0	17098	652	23	2	609	2	USP36	17	76799495	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	11667327	76799495	4395715	257	33780										
LPIN2	9663	genome.wustl.edu	37	chr18	2937846	2937846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctctgccacagatgttgggtCgctcatctgtgtacccaggg	12	12	3	1	rs532359167		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:2937846C>T	ENST00000261596.4	-	7	1250	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	338					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GATGTTGGGTCGCTCATCTGT	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		15972	0		0	False		,,,				2504	0																0													139	123	128					18																	2937846		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1012G>A	18.37:g.2937846C>T	ENSP00000261596:p.Asp338Asn		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.D338N	ENST00000261596.4	37	c.1012	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	C	8.785	0.929260	0.18131	.	.	ENSG00000101577	ENST00000261596	T	0.80304	-1.36	5.74	3.96	0.45880	.	1.241970	0.04923	N	0.455292	T	0.66587	0.2804	N	0.12887	0.27	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.51671	-0.8676	10	0.16420	T	0.52	-4.2313	9.1478	0.36944	0.0:0.7769:0.0:0.2231	.	338	Q92539	LPIN2_HUMAN	N	338	ENSP00000261596:D338N	ENSP00000261596:D338N	D	-	1	0	LPIN2	2927846	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.150000	0.10189	0.777000	0.33496	0.655000	0.94253	GAC	LPIN2	-	NULL		0.507	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2937846	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	missense	SNP	0.000	T	T	2937846	C	T	2937846	3	4	180	1	0	0	0	0	1	0	0	0	8942	884	31	1	1734	1	LPIN2	18	2937846	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		2937846	75139402	258	33781										
EPB41L3	23136	genome.wustl.edu	37	chr18	5394771	5394771	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agggtgctgctctttggcctCtttaattgcctgagccagcg	12	11	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:5394771C>G	ENST00000341928.2	-	22	3515	c.3175G>C	c.(3175-3177)Gag>Cag	p.E1059Q	EPB41L3_ENST00000427684.2_Missense_Mutation_p.E356Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E364Q|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E837Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E837Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E1059Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1059	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTTTGGCCTCTTTAATTGCC	0.493																																																	0													190	159	169					18																	5394771		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3175G>C	18.37:g.5394771C>G	ENSP00000343158:p.Glu1059Gln		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.E1059Q	ENST00000341928.2	37	c.3175	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.263853	0.95399	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.82	5.82	0.92795	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.996;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.993;0.999;0.997;0.998;0.952;0.999;0.998	D	0.94488	0.7699	10	0.72032	D	0.01	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	356;364;451;728;837;1059;294	E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;E41L3_HUMAN;.	Q	1059;728;728;356;364;1059;837	ENSP00000343158:E1059Q;ENSP00000392195:E356Q;ENSP00000442233:E364Q;ENSP00000341138:E1059Q;ENSP00000382981:E837Q	ENSP00000343158:E1059Q	E	-	1	0	EPB41L3	5384771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.767000	0.95098	0.655000	0.94253	GAG	EPB41L3	-	pirsf_Band_41_protein,pfam_Band_4.1_C		0.493	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	C	NM_012307		5394771	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5394771	C	G	5394771	3	3	180	1	0	0	0	0	1	0	0	0	5166	922	32	1	92	1	EPB41L3	18	5394771	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2456925	5394771	72682477	259	33782										
RALBP1	10928	genome.wustl.edu	37	chr18	9522346	9522346	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtgggaggaccacggagactGagaaagtgcaggaattccag	16	7	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:9522346G>A	ENST00000019317.4	+	4	1115	c.892G>A	c.(892-894)Gag>Aag	p.E298K	RP11-61L19.3_ENST00000609094.1_RNA|RALBP1_ENST00000383432.3_Missense_Mutation_p.E298K			Q15311	RBP1_HUMAN	ralA binding protein 1	298	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	CACGGAGACTGAGAAAGTGCA	0.448																																																	0													77	73	74					18																	9522346		2203	4300	6503	SO:0001583	missense	10928			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.892G>A	18.37:g.9522346G>A	ENSP00000019317:p.Glu298Lys		D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E298K	ENST00000019317.4	37	c.892	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567503	0.86439	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.21543	2.0;2.0	5.22	5.22	0.72569	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11012	-1.0605	10	0.44086	T	0.13	-6.3531	19.1266	0.93388	0.0:0.0:1.0:0.0	.	298	Q15311	RBP1_HUMAN	K	298	ENSP00000019317:E298K;ENSP00000372924:E298K	ENSP00000019317:E298K	E	+	1	0	RALBP1	9512346	1.000000	0.71417	0.954000	0.39281	0.512000	0.34134	9.748000	0.98867	2.590000	0.87494	0.563000	0.77884	GAG	RALBP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.448	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1	G	NM_006788		9522346	1	no_errors	ENST00000019317	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9522346	G	A	9522346	3	1	180	1	0	0	0	0	1	0	0	0	13042	1291	45	1	902	1	RALBP1	18	9522346	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4127575	9522346	68554902	260	33783										
OSBPL1A	114876	genome.wustl.edu	37	chr18	21819247	21819247	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gggtggagagcctttcaccaGagactgctctaattcatgat	11	9	3	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:21819247G>C	ENST00000319481.3	-	16	1587	c.1381C>G	c.(1381-1383)Ctg>Gtg	p.L461V	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.L79V|OSBPL1A_ENST00000399443.3_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	461					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCTTTCACCAGAGACTGCTCT	0.473																																																	0													159	127	138					18																	21819247		2203	4300	6503	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1381C>G	18.37:g.21819247G>C	ENSP00000320291:p.Leu461Val		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.L461V	ENST00000319481.3	37	c.1381	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708778	0.30322	.	.	ENSG00000141447	ENST00000319481;ENST00000357041	T;T	0.46451	0.87;0.89	5.84	4.97	0.65823	.	0.803958	0.11079	N	0.601993	T	0.27697	0.0681	N	0.25426	0.745	0.80722	D	1	P;B	0.38020	0.615;0.06	B;B	0.29267	0.1;0.017	T	0.04900	-1.0919	10	0.09338	T	0.73	-4.9066	15.1054	0.72319	0.0682:0.0:0.9318:0.0	.	461;461	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	V	461;79	ENSP00000320291:L461V;ENSP00000349545:L79V	ENSP00000320291:L461V	L	-	1	2	OSBPL1A	20073245	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	3.965000	0.56788	1.467000	0.48044	-0.150000	0.13652	CTG	OSBPL1A	-	NULL		0.473	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	G	NM_080597		21819247	-1	no_errors	ENST00000319481	ensembl	human	known	70_37	missense	SNP	0.991	C	C	21819247	G	C	21819247	3	2	180	1	0	0	0	0	1	0	0	0	11301	933	33	1	1523	1	OSBPL1A	18	21819247	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	12296901	21819247	56258001	261	33784										
DTNA	1837	genome.wustl.edu	37	chr18	32374109	32374109	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccgcttagaggctgtgctctCcactattttttaccagctca	7	13	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:32374109C>G	ENST00000399113.3	+	3	257	c.257C>G	c.(256-258)tCc>tGc	p.S86C	DTNA_ENST00000283365.9_Missense_Mutation_p.S86C|DTNA_ENST00000554864.3_Missense_Mutation_p.S86C|DTNA_ENST00000315456.6_Missense_Mutation_p.S86C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000597599.1_Missense_Mutation_p.S86C|DTNA_ENST00000348997.5_Missense_Mutation_p.S86C|DTNA_ENST00000595022.1_Missense_Mutation_p.S86C|DTNA_ENST00000596745.1_Missense_Mutation_p.S86C|DTNA_ENST00000444659.1_Missense_Mutation_p.S86C|DTNA_ENST00000598142.1_Missense_Mutation_p.S86C|DTNA_ENST00000269190.7_Missense_Mutation_p.S86C|DTNA_ENST00000399121.5_Missense_Mutation_p.S86C|DTNA_ENST00000598774.1_Missense_Mutation_p.S86C|DTNA_ENST00000598334.1_Missense_Mutation_p.S86C|DTNA_ENST00000269191.6_Missense_Mutation_p.S86C			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	86	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTGTGCTCTCCACTATTTTT	0.488																																																	0													236	181	200					18																	32374109		2203	4300	6503	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.257C>G	18.37:g.32374109C>G	ENSP00000382064:p.Ser86Cys		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.S86C	ENST00000399113.3	37	c.257	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	C	22.8	4.330891	0.81690	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.43	5.43	0.79202	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.67569	2.06	0.80722	D	1	D;D;D;B;D;D;B;D;D;D;D;D	0.89917	0.99;1.0;1.0;0.136;1.0;1.0;0.431;1.0;1.0;1.0;0.994;1.0	D;D;D;B;D;D;B;D;D;D;D;D	0.91635	0.917;0.999;0.998;0.179;0.987;0.997;0.412;0.992;0.989;0.981;0.923;0.981	T	0.78677	-0.2111	10	0.56958	D	0.05	-15.4182	17.7791	0.88518	0.0:1.0:0.0:0.0	.	86;86;86;86;86;86;86;97;86;86;86;86	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	C	86	ENSP00000283365:S86C;ENSP00000322519:S86C;ENSP00000269190:S86C;ENSP00000336682:S86C;ENSP00000382072:S86C;ENSP00000405819:S86C;ENSP00000269191:S86C;ENSP00000382064:S86C	ENSP00000269190:S86C	S	+	2	0	DTNA	30628107	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.785000	0.85724	2.708000	0.92522	0.563000	0.77884	TCC	DTNA	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin		0.488	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	C	NM_001390		32374109	1	no_errors	ENST00000269190	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32374109	C	G	32374109	3	3	180	1	0	0	0	0	1	0	0	0	4798	855	30	1	267	1	DTNA	18	32374109	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	10554862	32374109	45703139	262	33785										
SLC39A6	25800	genome.wustl.edu	37	chr18	33706184	33706184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaacagcactcatcttacctCctgaggattttcatttgtgt	7	10	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:33706184C>G	ENST00000590986.1	-	2	1076	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	SLC39A6_ENST00000269187.5_Missense_Mutation_p.E263Q|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	263					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CATCTTACCTCCTGAGGATTT	0.413																																																	0													124	124	124					18																	33706184		1882	4111	5993	SO:0001583	missense	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.787G>C	18.37:g.33706184C>G	ENSP00000465915:p.Glu263Gln		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.E263Q	ENST00000590986.1	37	c.787	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517221	0.44763	.	.	ENSG00000141424	ENST00000269187	T	0.22336	1.96	5.83	4.91	0.64330	.	0.209752	0.40908	D	0.000997	T	0.19886	0.0478	L	0.45581	1.43	0.80722	D	1	B	0.22909	0.077	B	0.22152	0.038	T	0.01998	-1.1232	10	0.40728	T	0.16	-16.3109	12.072	0.53622	0.0:0.8272:0.1728:0.0	.	263	Q13433	S39A6_HUMAN	Q	263	ENSP00000269187:E263Q	ENSP00000269187:E263Q	E	-	1	0	SLC39A6	31960182	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.173000	0.50839	2.766000	0.95052	0.491000	0.48974	GAG	SLC39A6	-	NULL		0.413	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	C			33706184	-1	no_errors	ENST00000269187	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33706184	C	G	33706184	3	3	180	1	0	0	0	0	1	0	0	0	14652	864	30	1	1528	1	SLC39A6	18	33706184	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	1332075	33706184	44371064	263	33786										
PHLPP1	23239	genome.wustl.edu	37	chr18	60563237	60563237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgcctcacattaaacatgtgGatctaaggtaaccatttttg	7	8	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr18:60563237G>T	ENST00000262719.5	+	6	2671	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y	PHLPP1_ENST00000400316.4_Missense_Mutation_p.D301Y			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	813					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TAAACATGTGGATCTAAGGTA	0.418																																																	0													57	53	54					18																	60563237		1849	4100	5949	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2437G>T	18.37:g.60563237G>T	ENSP00000262719:p.Asp813Tyr		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.D813Y	ENST00000262719.5	37	c.2437	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723190	0.89298	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.26373	1.74;1.74	5.07	5.07	0.68467	.	.	.	.	.	T	0.52041	0.1710	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49351	-0.8949	9	0.46703	T	0.11	-19.9974	18.6605	0.91470	0.0:0.0:1.0:0.0	.	813	O60346	PHLP1_HUMAN	Y	301;813	ENSP00000383170:D301Y;ENSP00000262719:D813Y	ENSP00000262719:D813Y	D	+	1	0	PHLPP1	58714217	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.217000	0.95160	2.655000	0.90218	0.655000	0.94253	GAT	PHLPP1	-	NULL		0.418	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	G	NM_194449		60563237	1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60563237	G	T	60563237	3	4	180	1	0	0	0	0	1	0	0	0	11878	1174	41	3	2459	3	PHLPP1	18	60563237	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	26857053	60563237	17514011	264	33787										
CSNK1G2	1455	genome.wustl.edu	37	chr19	1979936	1979936	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aactccaccaacggggagctGaatgcggacgaccccacggc	12	15	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:1979936G>A	ENST00000255641.8	+	11	1608	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	371					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGGGAGCTGAATGCGGACG	0.706																																					Ovarian(91;880 1392 21236 36928 37598)												0													20	22	21					19																	1979936		2190	4294	6484	SO:0001819	synonymous_variant	1455			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.1113G>A	19.37:g.1979936G>A			B5BU42|O00704|Q8WUB1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L371	ENST00000255641.8	37	c.1113	CCDS12077.1	19																																																																																			CSNK1G2	-	pfam_Casein_kinase-1_gamma_C		0.706	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1G2	HGNC	protein_coding	OTTHUMT00000449287.1	G	NM_001319		1979936	1	no_errors	ENST00000255641	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1979936	G	A	1979936	2	1	180	1	0	0	0	0	0	0	0	1	3960	1277	45	1		1	CSNK1G2	19	1979936	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		1979936	57149047	265	33788										
UBXN6	80700	genome.wustl.edu	37	chr19	4457626	4457626	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acgcaccccacggactctttGagcttctgaccgggtcccgc	10	17	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:4457626G>C	ENST00000301281.6	-	1	193	c.69C>G	c.(67-69)ctC>ctG	p.L23L	CTB-50L17.16_ENST00000591414.1_lincRNA|CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'Flank	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	23						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CGGACTCTTTGAGCTTCTGAC	0.677																																																	0													35	31	32					19																	4457626		2200	4298	6498	SO:0001819	synonymous_variant	80700			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.69C>G	19.37:g.4457626G>C			D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.L23	ENST00000301281.6	37	c.69	CCDS12129.1	19																																																																																			UBXN6	-	NULL		0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	HGNC	protein_coding	OTTHUMT00000458447.3	G	NM_025241		4457626	-1	no_errors	ENST00000301281	ensembl	human	known	70_37	silent	SNP	0.999	C	C	4457626	G	C	4457626	2	2	180	1	0	0	0	0	0	0	0	1	16948	1277	45	1		1	UBXN6	19	4457626	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2477690	4457626	54671357	266	33789										
FEM1A	55527	genome.wustl.edu	37	chr19	4792590	4792590	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tccaggagcagcccggccagGagcaggtcgcagggggagag	19	11	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:4792590G>C	ENST00000269856.3	+	1	863	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	242					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCCGGCCAGGAGCAGGTCGC	0.692																																																	0													25	30	28					19																	4792590		2192	4280	6472	SO:0001583	missense	55527			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.724G>C	19.37:g.4792590G>C	ENSP00000269856:p.Glu242Gln		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E242Q	ENST00000269856.3	37	c.724	CCDS12135.1	19	.	.	.	.	.	.	.	.	.	.	G	3.524	-0.097177	0.07010	.	.	ENSG00000141965	ENST00000269856	T	0.67698	-0.28	4.83	2.56	0.30785	.	1.276180	0.06191	U	0.681363	T	0.63965	0.2556	L	0.47190	1.495	0.22571	N	0.998971	B	0.26195	0.144	B	0.27380	0.079	T	0.55140	-0.8187	10	0.56958	D	0.05	-1.0878	12.3145	0.54948	0.0:0.3261:0.6739:0.0	.	242	Q9BSK4	FEM1A_HUMAN	Q	242	ENSP00000269856:E242Q	ENSP00000269856:E242Q	E	+	1	0	FEM1A	4743590	0.025000	0.19082	0.014000	0.15608	0.089000	0.18198	0.636000	0.24644	0.392000	0.25172	0.484000	0.47621	GAG	FEM1A	-	smart_Ankyrin_rpt		0.692	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1A	HGNC	protein_coding	OTTHUMT00000459000.1	G			4792590	1	no_errors	ENST00000269856	ensembl	human	known	70_37	missense	SNP	0.362	C	C	4792590	G	C	4792590	3	2	180	1	0	0	0	0	1	0	0	0	5827	1175	41	1	726	1	FEM1A	19	4792590	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	334964	4792590	54336393	267	33790										
UHRF1	29128	genome.wustl.edu	37	chr19	4950940	4950940	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gctaccttctgcggagggacGatgatgagcctggcccttgg	15	11	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:4950940G>A	ENST00000592666.1	+	0	2326							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GCGGAGGGACGATGATGAGCC	0.607																																																	0													78	85	83					19																	4950940		2081	4195	6276			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4950940G>A			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693417	0.68386	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.92	4.92	0.64577	SRA-YDG (3);	0.048089	0.85682	D	0.000000	D	0.85566	0.5726	M	0.91663	3.23	0.49687	D	0.999814	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89111	0.3496	8	0.72032	D	0.01	-3.2768	17.094	0.86630	0.0:0.0:1.0:0.0	.	597;584	Q2HIX7;Q96T88	.;UHRF1_HUMAN	N	584;199;584;584;597	.	ENSP00000262952:D584N	D	+	1	0	UHRF1	4901940	1.000000	0.71417	0.015000	0.15790	0.008000	0.06430	9.766000	0.98957	2.281000	0.76405	0.555000	0.69702	GAT	UHRF1	-	-		0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	G	NM_001048201		4950940	1	no_errors	ENST00000262952	ensembl	human	known	70_37	rna	SNP	1.000	A	A	4950940	G	A	4950940	1	1	180	0	1	0	0	0	0	0	0	0	16998	1058	37	1		1	UHRF1	19	4950940	RNA	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	158350	4950940	54178043	268	33791										
PRR22	163154	genome.wustl.edu	37	chr19	5783499	5783499	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tccttgacctcggccaccttGagctcgctgaggcccggtgg	13	15	0	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:5783499G>C	ENST00000419421.2	-	3	863	c.759C>G	c.(757-759)ctC>ctG	p.L253L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	253										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CGGCCACCTTGAGCTCGCTGA	0.692																																																	0													10	13	12					19																	5783499		2177	4265	6442	SO:0001819	synonymous_variant	163154			BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.759C>G	19.37:g.5783499G>C			E9PB31	Silent	SNP	NULL	p.L253	ENST00000419421.2	37	c.759	CCDS45933.1	19																																																																																			PRR22	-	NULL		0.692	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR22	HGNC	protein_coding	OTTHUMT00000368523.1	G	NM_153359		5783499	-1	no_errors	ENST00000419421	ensembl	human	known	70_37	silent	SNP	0.001	C	C	5783499	G	C	5783499	2	2	180	1	0	0	0	0	0	0	0	1	12620	1277	45	1		1	PRR22	19	5783499	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	832559	5783499	53345484	269	33792										
CAPS	8498	genome.wustl.edu	37	chr19	5914740	5914740	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tggatctggaggagttccttCgggcgctgcgggtgagcccc	17	11	1	1	rs199545548		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:5914740C>T	ENST00000340578.6	-	0	3233				AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Missense_Mutation_p.R170W|CAPS_ENST00000222125.5_Missense_Mutation_p.R84W|CAPS_ENST00000452990.2_Missense_Mutation_p.R84W	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GGAGTTCCTTCGGGCGCTGCG	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		16911	0		0	False		,,,				2504	0																0													67	77	73					19																	5914740		2203	4299	6502	SO:0001628	intergenic_variant	828			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914740C>T			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R84W	ENST00000340578.6	37	c.250	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168258	0.38315	.	.	ENSG00000105519	ENST00000394521;ENST00000222125;ENST00000452990	T;T	0.71817	-0.6;-0.6	4.92	1.34	0.21922	EF-hand-like domain (1);	0.567205	0.17126	N	0.186033	T	0.81602	0.4857	M	0.86573	2.825	0.09310	N	1	B;D	0.89917	0.167;1.0	B;D	0.75020	0.021;0.985	T	0.68819	-0.5308	10	0.37606	T	0.19	-24.055	6.2359	0.20762	0.3127:0.5955:0.0:0.0918	.	217;84	Q8NF12;Q13938	.;CAYP1_HUMAN	W	217;84;84	ENSP00000222125:R84W;ENSP00000403263:R84W	ENSP00000222125:R84W	R	+	1	2	CAPS	5865740	0.002000	0.14202	0.991000	0.47740	0.235000	0.25334	0.360000	0.20250	0.055000	0.16094	0.491000	0.48974	CGG	CAPS	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.667	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPS	HGNC	protein_coding	OTTHUMT00000452304.1	C	NM_007322		5914740	1	no_errors	ENST00000222125	ensembl	human	known	70_37	missense	SNP	0.124	T	T	5914740	C	T	5914740	1	4	180	0	1	0	0	0	0	0	0	0	2642	875	31	1		1	CAPS	19	5914740	IGR	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	131241	5914740	53214243	270	33793										
PIN1	5300	genome.wustl.edu	37	chr19	9959799	9959799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gccatttgaagacgcctcgtTtgcgctgcggacgggggaga	16	10	0	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:9959799T>C	ENST00000247970.4	+	4	438	c.416T>C	c.(415-417)tTt>tCt	p.F139S	PIN1_ENST00000588695.1_Missense_Mutation_p.F139S|PIN1_ENST00000380889.6_3'UTR|AC008752.3_ENST00000582439.1_RNA	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	139	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						GACGCCTCGTTTGCGCTGCGG	0.672																																																	0													56	52	53					19																	9959799		2203	4300	6503	SO:0001583	missense	5300				CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.416T>C	19.37:g.9959799T>C	ENSP00000247970:p.Phe139Ser		A8K4V9|Q53X75	Missense_Mutation	SNP	pfam_PPIase_PpiC,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_PPIase_PpiC	p.F139S	ENST00000247970.4	37	c.416	CCDS12220.1	19	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805680	0.70682	.	.	ENSG00000127445	ENST00000247970;ENST00000380889	T	0.57107	0.42	4.09	4.09	0.47781	Peptidyl-prolyl cis-trans isomerase, PpiC-type (2);	0.064471	0.64402	D	0.000010	T	0.75642	0.3877	M	0.91920	3.255	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.80872	-0.1188	9	.	.	.	-5.3293	11.1421	0.48408	0.0:0.0:0.0:1.0	.	139	Q13526	PIN1_HUMAN	S	139;10	ENSP00000247970:F139S	.	F	+	2	0	PIN1	9820799	1.000000	0.71417	0.986000	0.45419	0.723000	0.41478	4.184000	0.58323	1.727000	0.51537	0.454000	0.30748	TTT	PIN1	-	pfam_PPIase_PpiC,pfscan_PPIase_PpiC		0.672	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1	HGNC	protein_coding	OTTHUMT00000451107.1	T			9959799	1	no_errors	ENST00000247970	ensembl	human	known	70_37	missense	SNP	1.000	C	C	9959799	T	C	9959799	3	2	180	1	0	0	0	0	1	0	0	0	11954	1841	64	5	430	5	PIN1	19	9959799	Missense_Mutation	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	4045059	9959799	49169184	271	33794										
CALR	811	genome.wustl.edu	37	chr19	13049556	13049556	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gccgtcgccgagcctgccgtCtacttcaaggagcagtttct	11	14	3	0	rs572735736		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:13049556C>G	ENST00000316448.5	+	1	136	c.63C>G	c.(61-63)gtC>gtG	p.V21V		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	21	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	AGCCTGCCGTCTACTTCAAGG	0.711											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15	16	15					19																	13049556		2197	4297	6494	SO:0001819	synonymous_variant	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.63C>G	19.37:g.13049556C>G		684	Q6IAT4|Q9UDG2	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex	p.V21	ENST00000316448.5	37	c.63	CCDS12288.1	19																																																																																			CALR	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin		0.711	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1	C	NM_004343		13049556	1	no_errors	ENST00000316448	ensembl	human	known	70_37	silent	SNP	0.762	G	G	13049556	C	G	13049556	2	3	180	1	0	0	0	0	0	0	0	1	2597	900	32	1		1	CALR	19	13049556	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3089757	13049556	46079427	272	33795										
RASAL3	64926	genome.wustl.edu	37	chr19	15568600	15568600	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcggggaagccccttcgcttCgtgcacccacacgctcagcc	10	18	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:15568600C>A	ENST00000343625.7	-	9	1019	c.934G>T	c.(934-936)Gaa>Taa	p.E312*	RASAL3_ENST00000608577.1_5'UTR	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	312	C2.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCCTTCGCTTCGTGCACCCAC	0.692																																																	0													5	5	5					19																	15568600		1755	3571	5326	SO:0001587	stop_gained	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.934G>T	19.37:g.15568600C>A	ENSP00000341905:p.Glu312*		Q8N2T9|Q9H735	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.E312*	ENST00000343625.7	37	c.934	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	c	38	7.158855	0.98103	.	.	ENSG00000105122	ENST00000343625	.	.	.	4.2	3.14	0.36123	.	0.000000	0.37136	U	0.002237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5865	0.50920	0.0:0.8174:0.1825:0.0	.	.	.	.	X	312	.	ENSP00000341905:E312X	E	-	1	0	RASAL3	15429600	1.000000	0.71417	0.985000	0.45067	0.958000	0.62258	7.014000	0.76380	0.725000	0.32318	0.556000	0.70494	GAA	RASAL3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.692	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	C	NM_022904		15568600	-1	no_errors	ENST00000343625	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	15568600	C	A	15568600	4	1	180	1	0	0	0	0	0	1	0	0	13095	893	31	3	2141	3	RASAL3	19	15568600	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2519044	15568600	43560383	273	33796										
OR10H4	126541	genome.wustl.edu	37	chr19	16060198	16060198	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tatgatcgctatgtggccatCtgccacccactgcgttacaa	8	13	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:16060198C>T	ENST00000322107.1	+	1	381	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGTGGCCATCTGCCACCCAC	0.547																																																	0													264	224	238					19																	16060198		2203	4300	6503	SO:0001819	synonymous_variant	126541			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.381C>T	19.37:g.16060198C>T			Q6IFJ2|Q96R57	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I127	ENST00000322107.1	37	c.381	CCDS32941.1	19																																																																																			OR10H4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.547	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1	C			16060198	1	no_errors	ENST00000322107	ensembl	human	known	70_37	silent	SNP	1.000	T	T	16060198	C	T	16060198	2	4	180	1	0	0	0	0	0	0	0	1	10932	903	32	1		1	OR10H4	19	16060198	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	491598	16060198	43068785	274	33797										
PIK3R2	5296	genome.wustl.edu	37	chr19	18273798	18273798	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aaaggcgggaacaataagctGatcaaggtcttccaccgaga	11	9	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:18273798G>C	ENST00000593731.1	+	10	1691	c.1131G>C	c.(1129-1131)ctG>ctC	p.L377L	PIK3R2_ENST00000222254.8_Silent_p.L377L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	377	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ACAATAAGCTGATCAAGGTCT	0.572																																																	0													105	84	91					19																	18273798		2203	4300	6503	SO:0001819	synonymous_variant	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1131G>C	19.37:g.18273798G>C			Q5EAT5|Q9UPH9	Silent	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.L377	ENST00000593731.1	37	c.1131	CCDS12371.1	19																																																																																			PIK3R2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.572	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	G	NM_005027		18273798	1	no_errors	ENST00000222254	ensembl	human	known	70_37	silent	SNP	0.832	C	C	18273798	G	C	18273798	2	2	180	1	0	0	0	0	0	0	0	1	11943	1277	45	1		1	PIK3R2	19	18273798	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2213600	18273798	40855185	275	33798										
TMEM149	79713	genome.wustl.edu	37	chr19	36231340	36231340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gggagtaggggtcacggctcCgccgccgcaggggctacata	17	12	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:36231340C>T	ENST00000592537.1	-	3	383	c.283G>A	c.(283-285)Gga>Aga	p.G95R	IGFLR1_ENST00000587101.1_5'UTR|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.G95R|IGFLR1_ENST00000592889.1_Intron|AD000671.6_ENST00000589807.1_3'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GTCACGGCTCCGCCGCCGCAG	0.687																																																	0													14	16	15					19																	36231340		2156	4229	6385	SO:0001583	missense	79713			AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.283G>A	19.37:g.36231340C>T	ENSP00000466181:p.Gly95Arg		Q8N5X0	Missense_Mutation	SNP	superfamily_DEATH-like	p.G95R	ENST00000592537.1	37	c.283	CCDS12472.1	19	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671474	0.88348	.	.	ENSG00000126246	ENST00000246532	D	0.91894	-2.93	4.47	1.05	0.20165	.	0.333597	0.27495	N	0.019115	D	0.84938	0.5583	L	0.56769	1.78	0.38115	D	0.937672	D	0.56746	0.977	B	0.37091	0.241	T	0.80067	-0.1537	10	0.56958	D	0.05	-4.4376	2.8986	0.05698	0.1839:0.5354:0.1784:0.1024	.	95	Q9H665	IGFR1_HUMAN	R	95	ENSP00000246532:G95R	ENSP00000246532:G95R	G	-	1	0	IGFLR1	40923180	0.001000	0.12720	0.013000	0.15412	0.525000	0.34531	0.046000	0.14035	0.229000	0.21039	0.555000	0.69702	GGA	IGFLR1	-	NULL		0.687	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	IGFLR1	HGNC	protein_coding	OTTHUMT00000459077.1	C	NM_024660		36231340	-1	no_errors	ENST00000246532	ensembl	human	known	70_37	missense	SNP	0.204	T	T	36231340	C	T	36231340	3	4	180	1	0	0	0	0	1	0	0	0	16092	661	23	2	796	2	TMEM149	19	36231340	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	17957542	36231340	22897643	276	33799										
ZNF780A	284323	genome.wustl.edu	37	chr19	40581202	40581202	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aaacggtttttcacctgtgtGaatgttcttatggcgattaa	9	6	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:40581202G>A	ENST00000595687.2	-	6	1356	c.1147C>T	c.(1147-1149)Cac>Tac	p.H383Y	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.H349Y|ZNF780A_ENST00000594395.1_Missense_Mutation_p.H384Y|ZNF780A_ENST00000340963.5_Missense_Mutation_p.H383Y|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H384Y	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCTGTGTGAATGTTCTTA	0.413																																																	0													122	126	125					19																	40581202		2203	4300	6503	SO:0001583	missense	284323			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1147C>T	19.37:g.40581202G>A	ENSP00000472189:p.His383Tyr		E9PB48|Q6ZN87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H384Y	ENST00000595687.2	37	c.1150	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022147	0.54576	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.67523	-0.27;-0.27	1.62	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82522	0.5055	M	0.91920	3.255	0.32201	N	0.577765	P;D	0.76494	0.949;0.999	D;D	0.81914	0.917;0.995	T	0.82831	-0.0263	9	0.87932	D	0	.	8.7365	0.34532	0.0:0.0:1.0:0.0	.	384;383	E9PB48;O75290	.;Z780A_HUMAN	Y	383;384;383	ENSP00000400997:H384Y;ENSP00000341507:H383Y	ENSP00000341507:H383Y	H	-	1	0	ZNF780A	45273042	1.000000	0.71417	0.116000	0.21606	0.157000	0.22087	5.207000	0.65197	0.851000	0.35264	0.313000	0.20887	CAC	ZNF780A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	G	NM_001010880		40581202	-1	no_errors	ENST00000455521	ensembl	human	known	70_37	missense	SNP	1.000	A	A	40581202	G	A	40581202	3	1	180	1	0	0	0	0	1	0	0	0	18182	1290	45	1	909	1	ZNF780A	19	40581202	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4349862	40581202	18547781	277	33800										
GIPR	2696	genome.wustl.edu	37	chr19	46176166	46176166	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tggccaatggggactttggaGagaccatacacaatgtgaga	13	7	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:46176166G>A	ENST00000590918.1	+	5	437	c.338G>A	c.(337-339)aGa>aAa	p.R113K	GIPR_ENST00000263281.3_Missense_Mutation_p.R113K|GIPR_ENST00000304207.8_Missense_Mutation_p.R77K|MIR642A_ENST00000385039.1_RNA	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	113					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGACTTTGGAGAGACCATACA	0.522																																																	0													117	100	105					19																	46176166		2203	4300	6503	SO:0001583	missense	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.338G>A	19.37:g.46176166G>A	ENSP00000467494:p.Arg113Lys		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R113K	ENST00000590918.1	37	c.338	CCDS12671.1	19	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118572	0.77323	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.62498	0.02;0.63	4.81	4.81	0.61882	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.53938	D	0.000043	T	0.70911	0.3278	L	0.47190	1.495	0.36676	D	0.878764	P;D;P	0.76494	0.712;0.999;0.733	P;D;B	0.80764	0.45;0.994;0.395	T	0.71896	-0.4454	10	0.30078	T	0.28	.	13.25	0.60045	0.0:0.0:1.0:0.0	.	77;113;113	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	K	113;77	ENSP00000263281:R113K;ENSP00000305321:R77K	ENSP00000263281:R113K	R	+	2	0	GIPR	50868006	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.528000	0.67129	2.504000	0.84457	0.561000	0.74099	AGA	GIPR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom		0.522	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	G			46176166	1	no_errors	ENST00000590918	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46176166	G	A	46176166	3	1	180	1	0	0	0	0	1	0	0	0	6414	942	33	1	352	1	GIPR	19	46176166	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	5594964	46176166	12952817	278	33801										
KCNJ14	3770	genome.wustl.edu	37	chr19	48965272	48965272	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgctcttctcctgctccttCctcgcctcctggctgctctt	6	19	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:48965272C>T	ENST00000391884.1	+	1	767	c.291C>T	c.(289-291)ttC>ttT	p.F97F	KCNJ14_ENST00000342291.2_Silent_p.F97F			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	97					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CCTGCTCCTTCCTCGCCTCCT	0.687																																					NSCLC(148;170 3504 35216)												0													69	40	50					19																	48965272		2203	4300	6503	SO:0001819	synonymous_variant	3770			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.291C>T	19.37:g.48965272C>T				Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	p.F97	ENST00000391884.1	37	c.291	CCDS12721.1	19																																																																																			KCNJ14	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.687	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	C	NM_013348		48965272	1	no_errors	ENST00000342291	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48965272	C	T	48965272	2	4	180	1	0	0	0	0	0	0	0	1	8068	854	30	1		1	KCNJ14	19	48965272	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2789106	48965272	10163711	279	33802										
PPP1R15A	23645	genome.wustl.edu	37	chr19	49377902	49377902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgagtcagacccacatccctCccacccggaccagagggccc	9	19	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:49377902C>T	ENST00000200453.5	+	2	1681	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	471	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCACATCCCTCCCACCCGGAC	0.572																																																	0													70	71	71					19																	49377902		2203	4300	6503	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1412C>T	19.37:g.49377902C>T	ENSP00000200453:p.Ser471Phe		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	pfam_Prot_Pase1_reg-su15A/B_C	p.S471F	ENST00000200453.5	37	c.1412	CCDS12738.1	19	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596946	0.46318	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.06068	3.35	4.25	2.0	0.26442	.	0.589832	0.14585	N	0.310594	T	0.05640	0.0148	L	0.39898	1.24	0.09310	N	1	B	0.24963	0.115	B	0.22152	0.038	T	0.34378	-0.9831	10	0.45353	T	0.12	-5.3355	5.9478	0.19229	0.0:0.6943:0.196:0.1097	.	471	O75807	PR15A_HUMAN	F	471;311;429	ENSP00000200453:S471F	ENSP00000200453:S471F	S	+	2	0	PPP1R15A	54069714	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.639000	0.24690	0.468000	0.27243	0.650000	0.86243	TCC	PPP1R15A	-	NULL		0.572	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15A	HGNC	protein_coding	OTTHUMT00000466226.1	C	NM_014330		49377902	1	no_errors	ENST00000200453	ensembl	human	known	70_37	missense	SNP	0.005	T	T	49377902	C	T	49377902	3	4	180	1	0	0	0	0	1	0	0	0	12390	855	30	1	1414	1	PPP1R15A	19	49377902	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	412630	49377902	9751081	280	33803										
HAS1	3036	genome.wustl.edu	37	chr19	52222782	52222782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	caccatgaggacgcgcagccGcgcgcgcgggtacagcaggg	17	14	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:52222782G>A	ENST00000222115.1	-	2	413	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	HAS1_ENST00000601714.1_Missense_Mutation_p.R134W|HAS1_ENST00000594621.1_5'Flank|HAS1_ENST00000540069.2_Missense_Mutation_p.R126W	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	127					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACGCGCAGCCGCGCGCGCGGG	0.706																																					NSCLC(132;636 2450 45807 47979)												0													6	5	5					19																	52222782		1919	3708	5627	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.379C>T	19.37:g.52222782G>A	ENSP00000222115:p.Arg127Trp		Q14470|Q9NS49	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.R127W	ENST00000222115.1	37	c.379	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	.	23.3	4.396539	0.83011	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.60797	0.16;0.16	4.15	3.08	0.35506	.	0.207197	0.34435	N	0.003962	T	0.60064	0.2240	L	0.36672	1.1	0.33073	D	0.535688	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.59948	0.866;0.739;0.739	T	0.69624	-0.5095	10	0.72032	D	0.01	-22.3214	9.6479	0.39879	0.0:0.0:0.6256:0.3744	.	126;127;126	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	W	126;127	ENSP00000445021:R126W;ENSP00000222115:R127W	ENSP00000222115:R127W	R	-	1	2	HAS1	56914594	1.000000	0.71417	0.784000	0.31847	0.976000	0.68499	2.522000	0.45572	0.819000	0.34492	0.423000	0.28283	CGG	HAS1	-	NULL		0.706	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	G	NM_001523		52222782	-1	no_errors	ENST00000222115	ensembl	human	known	70_37	missense	SNP	0.927	A	A	52222782	G	A	52222782	3	1	180	1	0	0	0	0	1	0	0	0	6981	1086	38	2	1373	2	HAS1	19	52222782	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2844880	52222782	6906201	281	33804										
ZNF611	81856	genome.wustl.edu	37	chr19	53217357	53217357	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggcatttccactctgccaatGagaattctatagccacatcc	6	13	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:53217357G>C	ENST00000319783.1	-	6	417	c.101C>G	c.(100-102)tCa>tGa	p.S34*	ZNF611_ENST00000595798.1_Intron|ZNF611_ENST00000540744.1_Nonsense_Mutation_p.S34*|ZNF611_ENST00000596702.1_Intron|ZNF611_ENST00000600943.1_Intron|ZNF611_ENST00000453741.2_Intron|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000543227.1_Nonsense_Mutation_p.S34*	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CTCTGCCAATGAGAATTCTAT	0.438																																																	0													140	146	144					19																	53217357		2203	4300	6503	SO:0001587	stop_gained	81856			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.101C>G	19.37:g.53217357G>C	ENSP00000322427:p.Ser34*		B3KRD5|Q69YG9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S34*	ENST00000319783.1	37	c.101	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	18.19	3.569436	0.65765	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000319783	.	.	.	3.03	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.955	0.58421	0.0:0.0:1.0:0.0	.	.	.	.	X	34	.	ENSP00000322427:S34X	S	-	2	0	ZNF611	57909169	0.871000	0.30034	0.264000	0.24511	0.020000	0.10135	1.095000	0.30964	1.534000	0.49203	0.298000	0.19748	TCA	ZNF611	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	G	NM_030972		53217357	-1	no_errors	ENST00000319783	ensembl	human	known	70_37	nonsense	SNP	0.818	C	C	53217357	G	C	53217357	4	2	180	1	0	0	0	0	0	1	0	0	18067	1294	45	1	2024	1	ZNF611	19	53217357	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	994575	53217357	5911626	282	33805										
ZNF665	79788	genome.wustl.edu	37	chr19	53668443	53668443	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	actaaaggctttgccacactCatcacacctgtaaggtttct	6	12	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:53668443C>T	ENST00000600412.1	-	2	1220	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.E434K			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCACACTCATCACACCTG	0.413																																																	0													83	88	86					19																	53668443		2203	4300	6503	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1105G>A	19.37:g.53668443C>T	ENSP00000469154:p.Glu369Lys		A8K5T8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E434K	ENST00000600412.1	37	c.1300		19	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423889	0.43020	.	.	ENSG00000197497	ENST00000396424	T	0.07327	3.2	2.1	0.823	0.18812	.	.	.	.	.	T	0.10035	0.0246	N	0.21282	0.65	0.09310	N	1	D	0.56968	0.978	P	0.53401	0.725	T	0.33369	-0.9871	9	0.49607	T	0.09	.	9.6148	0.39685	0.0:0.7837:0.2163:0.0	.	434	Q9H7R5-2	.	K	434	ENSP00000379702:E434K	ENSP00000379702:E434K	E	-	1	0	ZNF665	58360255	0.000000	0.05858	0.017000	0.16124	0.191000	0.23601	-0.373000	0.07494	1.163000	0.42636	0.205000	0.17691	GAG	ZNF665	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	HGNC	protein_coding	OTTHUMT00000464179.1	C	NM_024733		53668443	-1	no_errors	ENST00000396424	ensembl	human	known	70_37	missense	SNP	0.069	T	T	53668443	C	T	53668443	3	4	180	1	0	0	0	0	1	0	0	0	18103	835	29	1	740	1	ZNF665	19	53668443	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	451086	53668443	5460540	283	33806										
TMC4	147798	genome.wustl.edu	37	chr19	54672241	54672241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cctgggagtgggggttatagGagccgcagggcgaggagatg	21	6	0	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:54672241G>A	ENST00000376591.4	-	4	757	c.626C>T	c.(625-627)tCc>tTc	p.S209F	TMC4_ENST00000301187.4_Missense_Mutation_p.S203F|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	209					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGGTTATAGGAGCCGCAGGG	0.682											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17	15	16					19																	54672241		2155	4230	6385	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.626C>T	19.37:g.54672241G>A	ENSP00000365776:p.Ser209Phe	1002	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.S203F	ENST00000376591.4	37	c.608	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	g	0.337	-0.952953	0.02285	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.43294	0.95;0.95;0.95	4.2	-2.05	0.07321	.	2.139460	0.01656	N	0.024857	T	0.30008	0.0751	L	0.35593	1.075	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.12837	0.002;0.008	T	0.34054	-0.9844	10	0.09590	T	0.72	-7.3483	7.9009	0.29734	0.4708:0.0:0.5292:0.0	.	209;203	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	F	203;209;113	ENSP00000301187:S203F;ENSP00000365776:S209F;ENSP00000416444:S113F	ENSP00000301187:S203F	S	-	2	0	TMC4	59364053	0.000000	0.05858	0.793000	0.32043	0.185000	0.23345	0.098000	0.15189	-0.465000	0.06953	-1.004000	0.02495	TCC	TMC4	-	NULL		0.682	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	G			54672241	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	missense	SNP	0.984	A	A	54672241	G	A	54672241	3	1	180	1	0	0	0	0	1	0	0	0	16017	1174	41	1	1560	1	TMC4	19	54672241	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	1003798	54672241	4456742	284	33807										
LILRA5	353514	genome.wustl.edu	37	chr19	54822935	54822935	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggagggtcacgttctctcctGaggtcaccacaggactgggc	14	12	3	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:54822935G>T	ENST00000301219.3	-	5	580	c.461C>A	c.(460-462)tCa>tAa	p.S154*	LILRA5_ENST00000346508.3_Nonsense_Mutation_p.S142*|LILRA5_ENST00000446712.3_Nonsense_Mutation_p.S142*|LILRA5_ENST00000432233.3_Nonsense_Mutation_p.S154*|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	154	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTTCTCTCCTGAGGTCACCAC	0.562																																																	0													83	83	83					19																	54822935		2203	4300	6503	SO:0001587	stop_gained	353514			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.461C>A	19.37:g.54822935G>T	ENSP00000301219:p.Ser154*		A6NHI3	Nonsense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2	p.S154*	ENST00000301219.3	37	c.461	CCDS12888.1	19	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460820	0.84317	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	.	.	.	3.14	3.14	0.36123	.	1.208630	0.06470	U	0.730920	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0788	0.42377	0.0:0.0:1.0:0.0	.	.	.	.	X	154;142;142;154	.	ENSP00000301219:S154X	S	-	2	0	LILRA5	59514747	0.011000	0.17503	0.179000	0.23059	0.030000	0.12068	1.651000	0.37302	1.481000	0.48307	0.205000	0.17691	TCA	LILRA5	-	smart_Ig_sub		0.562	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA5	HGNC	protein_coding	OTTHUMT00000140231.1	G	NM_181985		54822935	-1	no_errors	ENST00000301219	ensembl	human	known	70_37	nonsense	SNP	0.596	T	T	54822935	G	T	54822935	4	4	180	1	0	0	0	0	0	1	0	0	8808	1294	45	3	536	3	LILRA5	19	54822935	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	150694	54822935	4306048	285	33808										
RDH13	112724	genome.wustl.edu	37	chr19	55559864	55559864	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgatgatccgcgaaggggctGaggctttcagcttgtccagc	14	10	1	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:55559864G>A	ENST00000415061.3	-	5	634	c.491C>T	c.(490-492)tCa>tTa	p.S164L	RDH13_ENST00000396247.3_Missense_Mutation_p.S93L|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	164					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CGAAGGGGCTGAGGCTTTCAG	0.488																																																	0													76	77	77					19																	55559864		2018	4176	6194	SO:0001583	missense	112724				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19978	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 3"		"retinol dehydrogenase 13 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.491C>T	19.37:g.55559864G>A	ENSP00000391121:p.Ser164Leu		Q6UX79|Q96G88	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.S164L	ENST00000415061.3	37	c.491	CCDS54320.1	19	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281003	0.80692	.	.	ENSG00000160439	ENST00000415061;ENST00000396247;ENST00000291892	D;D;D	0.87103	-2.21;-2.21;-2.21	5.29	4.18	0.49190	NAD(P)-binding domain (1);	0.267024	0.36893	N	0.002344	D	0.89891	0.6846	M	0.84326	2.69	0.42077	D	0.991235	P	0.47484	0.896	P	0.48270	0.572	D	0.91635	0.5322	10	0.87932	D	0	.	13.4806	0.61334	0.0:0.1583:0.8417:0.0	.	164	Q8NBN7	RDH13_HUMAN	L	164;93;164	ENSP00000391121:S164L;ENSP00000379547:S93L;ENSP00000291892:S164L	ENSP00000291892:S164L	S	-	2	0	RDH13	60251676	1.000000	0.71417	0.945000	0.38365	0.813000	0.45954	4.590000	0.61013	2.665000	0.90641	0.549000	0.68633	TCA	RDH13	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH		0.488	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1	G	NM_138412		55559864	-1	no_errors	ENST00000415061	ensembl	human	known	70_37	missense	SNP	0.978	A	A	55559864	G	A	55559864	3	1	180	1	0	0	0	0	1	0	0	0	13222	1294	45	1	516	1	RDH13	19	55559864	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	736929	55559864	3569119	286	33809										
PTPRH	5794	genome.wustl.edu	37	chr19	55708498	55708498	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttctcacatgtggacgcacaGaggctctgcgtggaactggc	13	11	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:55708498G>A	ENST00000376350.3	-	9	1999	c.1977C>T	c.(1975-1977)ctC>ctT	p.L659L	PTPRH_ENST00000263434.5_Silent_p.L481L|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	659	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGACGCACAGAGGCTCTGCG	0.532																																																	0													120	94	102					19																	55708498		2203	4300	6503	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1977C>T	19.37:g.55708498G>A			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L659	ENST00000376350.3	37	c.1977	CCDS33110.1	19																																																																																			PTPRH	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.532	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	G			55708498	-1	no_errors	ENST00000376350	ensembl	human	known	70_37	silent	SNP	0.781	A	A	55708498	G	A	55708498	2	1	180	1	0	0	0	0	0	0	0	1	12833	929	33	1		1	PTPRH	19	55708498	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	148634	55708498	3420485	287	33810										
PEG3	5178	genome.wustl.edu	37	chr19	57325574	57325574	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tttggctcagcagcctccacTtctggctcagcagcctccac	8	17	3	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:57325574T>G	ENST00000326441.9	-	10	4599	c.4236A>C	c.(4234-4236)gaA>gaC	p.E1412D	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1288D|PEG3_ENST00000593695.1_Missense_Mutation_p.E1286D|PEG3_ENST00000423103.2_Missense_Mutation_p.E1412D|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1412	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCCACTTCTGGCTCAG	0.587																																																	0													44	47	46					19																	57325574		2202	4294	6496	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4236A>C	19.37:g.57325574T>G	ENSP00000326581:p.Glu1412Asp		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E1412D	ENST00000326441.9	37	c.4236	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	5.760	0.324543	0.10900	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02631	4.22;4.22	4.04	-8.08	0.01094	.	0.734362	0.12167	N	0.493449	T	0.01320	0.0043	N	0.14661	0.345	.	.	.	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.37033	-0.9723	9	0.28530	T	0.3	-3.3935	3.2737	0.06891	0.0913:0.1888:0.2592:0.4607	.	1288;1412;1347	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1412	ENSP00000326581:E1412D;ENSP00000403051:E1412D	ENSP00000326581:E1412D	E	-	3	2	ZIM2	62017386	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	-0.468000	0.06656	-3.438000	0.00163	-0.789000	0.03336	GAA	PEG3	-	NULL		0.587	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	T			57325574	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	missense	SNP	0.000	G	G	57325574	T	G	57325574	3	3	180	1	0	0	0	0	1	0	0	0	11744	1606	56	5	534	5	PEG3	19	57325574	Missense_Mutation	SNP	T	TCGA-Q1-A5R2-01A-11D-A28B-09	1617076	57325574	1803409	288	33811										
ZNF419	79744	genome.wustl.edu	37	chr19	58004450	58004450	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgatcagctcaggtgttctCaagcaccaggtgactcacac	9	13	4	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:58004450C>T	ENST00000221735.7	+	5	711	c.525C>T	c.(523-525)ctC>ctT	p.L175L	ZNF419_ENST00000354197.4_Silent_p.L163L|ZNF419_ENST00000415379.2_Silent_p.L129L|ZNF419_ENST00000424930.2_Silent_p.L176L|ZNF419_ENST00000442920.2_Silent_p.L162L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Silent_p.L163L|ZNF419_ENST00000347466.6_Silent_p.L143L			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CAGGTGTTCTCAAGCACCAGG	0.502																																																	0													44	46	46					19																	58004450		2203	4300	6503	SO:0001819	synonymous_variant	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.525C>T	19.37:g.58004450C>T			B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L176	ENST00000221735.7	37	c.528	CCDS54326.1	19																																																																																			ZNF419	-	NULL		0.502	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	C	NM_024691		58004450	1	no_errors	ENST00000424930	ensembl	human	known	70_37	silent	SNP	0.000	T	T	58004450	C	T	58004450	2	4	180	1	0	0	0	0	0	0	0	1	17926	813	29	1		1	ZNF419	19	58004450	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	678876	58004450	1124533	289	33812										
ZNF134	7693	genome.wustl.edu	37	chr19	58131551	58131551	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gttggcatgaagtgaaggatGaagagtcatcttctgaacag	13	5	3	5			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:58131551G>A	ENST00000396161.5	+	3	374	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGTGAAGGATGAAGAGTCATC	0.448																																																	0													92	89	90					19																	58131551		2071	4237	6308	SO:0001583	missense	7693			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.64G>A	19.37:g.58131551G>A	ENSP00000379464:p.Glu22Lys		Q9Y4B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E22K	ENST00000396161.5	37	c.64	CCDS42638.1	19	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544192	0.45280	.	.	ENSG00000213762	ENST00000418193;ENST00000396161	T	0.08896	3.04	3.64	1.15	0.20763	.	.	.	.	.	T	0.05456	0.0144	L	0.33339	1.005	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.46470	-0.9189	9	0.12103	T	0.63	.	5.0093	0.14304	0.3418:0.0:0.6582:0.0	.	22	P52741	ZN134_HUMAN	K	89;22	ENSP00000379464:E22K	ENSP00000379464:E22K	E	+	1	0	ZNF134	62823363	0.165000	0.22948	0.229000	0.23960	0.489000	0.33432	0.486000	0.22340	0.353000	0.24079	0.655000	0.94253	GAA	ZNF134	-	NULL		0.448	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF134	HGNC	protein_coding	OTTHUMT00000466808.1	G	NM_003435		58131551	1	no_errors	ENST00000396161	ensembl	human	known	70_37	missense	SNP	0.283	A	A	58131551	G	A	58131551	3	1	180	1	0	0	0	0	1	0	0	0	17754	1291	45	1	70	1	ZNF134	19	58131551	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	127101	58131551	997432	290	33813										
ZNF814	730051	genome.wustl.edu	37	chr19	58384313	58384313	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgaactctcttgtgtttagtGagactggagctttcagcaaa	10	7	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:58384313G>A	ENST00000435989.2	-	3	2679	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	815					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TGTGTTTAGTGAGACTGGAGC	0.393																																																	0													111	98	102					19																	58384313		692	1591	2283	SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2445C>T	19.37:g.58384313G>A			A6NF35	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L815	ENST00000435989.2	37	c.2445	CCDS46212.1	19																																																																																			ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58384313	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	silent	SNP	0.001	A	A	58384313	G	A	58384313	2	1	180	1	0	0	0	0	0	0	0	1	18206	1277	45	1		1	ZNF814	19	58384313	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	252762	58384313	744670	291	33814										
SLC27A5	10998	genome.wustl.edu	37	chr19	59010588	59010588	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	acacgttctcgcccttccatCtgcaaggagggagccggcgc	12	15	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr19:59010588C>T	ENST00000263093.2	-	8	1777		c.e8-1		SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000601355.1_Splice_Site	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5						bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCTTCCATCTGCAAGGAGG	0.657																																																	0													58	51	53					19																	59010588		2203	4300	6503	SO:0001630	splice_region_variant	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1668-1G>A	19.37:g.59010588C>T			B3KVP6|B4DPQ1	Splice_Site	SNP	-	e8-1	ENST00000263093.2	37	c.1668-1	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.736218	0.96865	.	.	ENSG00000083807	ENST00000263093	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3774	0.66886	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC27A5	63702400	1.000000	0.71417	0.566000	0.28421	0.807000	0.45602	5.159000	0.64923	2.538000	0.85594	0.563000	0.77884	.	SLC27A5	-	-		0.657	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254	Intron	59010588	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	splice_site	SNP	0.997	T	T	59010588	C	T	59010588	5	4	180	1	0	0	0	0	0	0	1	0	14559	927	32	1	417	1	SLC27A5	19	59010588	Splice_Site	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	626275	59010588	118395	292	33815										
C20orf72	92667	genome.wustl.edu	37	chr20	17956539	17956539	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gtctgctggactgtgtggctGagtatcagtaagtatgagat	14	5	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:17956539G>C	ENST00000377710.5	+	3	1012	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377704.4_Intron|MGME1_ENST00000377709.1_Missense_Mutation_p.E162Q	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		CTGTGTGGCTGAGTATCAGTA	0.443																																																	0													102	102	102					20																	17956539		2203	4300	6503	SO:0001583	missense	92667				CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"chromosome 20 open reading frame 72"	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.724G>C	20.37:g.17956539G>C	ENSP00000366939:p.Glu242Gln			Missense_Mutation	SNP	superfamily_Restrct_endonuc-II-like	p.E242Q	ENST00000377710.5	37	c.724	CCDS13131.1	20	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161027	0.38119	.	.	ENSG00000125871	ENST00000377710;ENST00000377709	T;T	0.44881	0.91;0.93	5.49	2.2	0.27929	.	0.410133	0.30101	N	0.010406	T	0.27765	0.0683	L	0.32530	0.975	0.80722	D	1	B	0.25850	0.136	B	0.21917	0.037	T	0.04930	-1.0917	10	0.19147	T	0.46	-11.1138	9.904	0.41364	0.3119:0.0:0.6881:0.0	.	242	Q9BQP7	CT072_HUMAN	Q	242;162	ENSP00000366939:E242Q;ENSP00000366938:E162Q	ENSP00000366938:E162Q	E	+	1	0	C20orf72	17904539	0.907000	0.30839	0.993000	0.49108	0.987000	0.75469	1.072000	0.30678	0.195000	0.20347	0.655000	0.94253	GAG	C20orf72	-	superfamily_Restrct_endonuc-II-like		0.443	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf72	HGNC	protein_coding	OTTHUMT00000078139.1	G	NM_052865		17956539	1	no_errors	ENST00000377710	ensembl	human	known	70_37	missense	SNP	0.992	C	C	17956539	G	C	17956539	3	2	180	1	0	0	0	0	1	0	0	0	2123	1291	45	1	730	1	C20orf72	20	17956539	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		17956539	45068981	293	33816										
FOXA2	3170	genome.wustl.edu	37	chr20	22563211	22563211	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ggcgagcggggcaccttcagGaaacagtcgttgaaggagag	17	8	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:22563211G>A	ENST00000377115.4	-	3	832	c.651C>T	c.(649-651)ttC>ttT	p.F217F	FOXA2_ENST00000419308.2_Silent_p.F223F	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	217					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F217L(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCACCTTCAGGAAACAGTCGT	0.617																																																	1	Substitution - Missense(1)	endometrium(1)											45	49	48					20																	22563211		2203	4300	6503	SO:0001819	synonymous_variant	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.651C>T	20.37:g.22563211G>A			Q8WUW4|Q96DF7	Silent	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F223	ENST00000377115.4	37	c.669	CCDS13147.1	20																																																																																			FOXA2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.617	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1	G			22563211	-1	no_errors	ENST00000319993	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22563211	G	A	22563211	2	1	180	1	0	0	0	0	0	0	0	1	6008	1165	41	1		1	FOXA2	20	22563211	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	4606672	22563211	40462309	294	33817										
JPH2	57158	genome.wustl.edu	37	chr20	42815123	42815123	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gagccagcgccccttggtctCtatgcccagcccatgccgtt	10	17	1	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:42815123C>G	ENST00000372980.3	-	1	1095	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	JPH2_ENST00000342272.3_Missense_Mutation_p.E75Q	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	75	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCCTTGGTCTCTATGCCCAGC	0.597																																																	0													123	93	103					20																	42815123		2203	4300	6503	SO:0001583	missense	57158			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.223G>C	20.37:g.42815123C>G	ENSP00000362071:p.Glu75Gln		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.E75Q	ENST00000372980.3	37	c.223	CCDS13325.1	20	.	.	.	.	.	.	.	.	.	.	c	14.72	2.618308	0.46736	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	T;T	0.55930	0.49;0.49	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	L	0.28054	0.825	0.58432	D	0.999997	B;D	0.89917	0.215;1.0	B;D	0.97110	0.131;1.0	T	0.58891	-0.7556	10	0.29301	T	0.29	.	17.4072	0.87477	0.0:1.0:0.0:0.0	.	75;75	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	Q	75	ENSP00000362071:E75Q;ENSP00000344590:E75Q	ENSP00000344590:E75Q	E	-	1	0	JPH2	42248537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.096000	0.63516	0.550000	0.68814	GAG	JPH2	-	pfam_MORN,smart_MORN,pirsf_Junctophilin		0.597	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1	C			42815123	-1	no_errors	ENST00000372980	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42815123	C	G	42815123	3	3	180	1	0	0	0	0	1	0	0	0	7981	922	32	1	1902	1	JPH2	20	42815123	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	20251912	42815123	20210397	295	33818										
ZNF335	63925	genome.wustl.edu	37	chr20	44580951	44580951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcagcagtggctgcagatggCggtgacgggggcactgccag	19	10	0	2	rs149107421		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:44580951C>T	ENST00000322927.2	-	20	3124	c.3024G>A	c.(3022-3024)ccG>ccA	p.P1008P	ZNF335_ENST00000426788.1_Silent_p.P853P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1008					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCAGATGGCGGTGACGGGG	0.627																																																	0								T		0,4406		0,0,2203	25	29	28		3024	-9.6	0	20	dbSNP_134	28	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZNF335	NM_022095.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1008/1343	44580951	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3024G>A	20.37:g.44580951C>T			B4DLG7|Q548D0|Q9H684	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1008	ENST00000322927.2	37	c.3024	CCDS13389.1	20																																																																																			ZNF335	-	NULL		0.627	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	C	NM_022095		44580951	-1	no_errors	ENST00000322927	ensembl	human	known	70_37	silent	SNP	0.001	T	T	44580951	C	T	44580951	2	4	180	1	0	0	0	0	0	0	0	1	17882	755	27	2		2	ZNF335	20	44580951	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	1765828	44580951	18444569	296	33819										
PREX1	57580	genome.wustl.edu	37	chr20	47258742	47258742	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	catagggaaatgcttggtctCttcgaaagcccggctcatga	11	10	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:47258742C>G	ENST00000371941.3	-	29	3761	c.3739G>C	c.(3739-3741)Gag>Cag	p.E1247Q	PREX1_ENST00000396220.1_Missense_Mutation_p.E1247Q|PREX1_ENST00000496915.1_5'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1247					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGCTTGGTCTCTTCGAAAGCC	0.592																																																	0													110	100	103					20																	47258742		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3739G>C	20.37:g.47258742C>G	ENSP00000361009:p.Glu1247Gln		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E1247Q	ENST00000371941.3	37	c.3739	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	c	11.19	1.566870	0.28003	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.37584	1.19;1.19	5.4	5.4	0.78164	.	0.000000	0.53938	U	0.000043	T	0.46908	0.1417	L	0.36672	1.1	0.58432	D	0.999994	B;D	0.76494	0.094;0.999	B;D	0.70487	0.049;0.969	T	0.19289	-1.0310	10	0.05833	T	0.94	.	19.2615	0.93970	0.0:1.0:0.0:0.0	.	1247;544	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	1247	ENSP00000361009:E1247Q;ENSP00000379522:E1247Q	ENSP00000361009:E1247Q	E	-	1	0	PREX1	46692149	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.751000	0.55165	2.538000	0.85594	0.639000	0.83563	GAG	PREX1	-	NULL		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	C	NM_020820		47258742	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	G	G	47258742	C	G	47258742	3	3	180	1	0	0	0	0	1	0	0	0	12503	922	32	1	1288	1	PREX1	20	47258742	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	2677791	47258742	15766778	297	33820										
ARFGEF2	10564	genome.wustl.edu	37	chr20	47611012	47611012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tgaaatgcatcagccagctgGagctcgctcagctgatagga	12	10	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:47611012G>A	ENST00000371917.4	+	22	2998	c.2998G>A	c.(2998-3000)Gag>Aag	p.E1000K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1000					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGCCAGCTGGAGCTCGCTCA	0.493																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													70	65	67					20																	47611012		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2998G>A	20.37:g.47611012G>A	ENSP00000360985:p.Glu1000Lys		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1000K	ENST00000371917.4	37	c.2998	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.834040	0.97003	.	.	ENSG00000124198	ENST00000371917	T	0.66280	-0.2	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84392	0.5462	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86808	0.1996	10	0.72032	D	0.01	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1000	Q9Y6D5	BIG2_HUMAN	K	1000	ENSP00000360985:E1000K	ENSP00000360985:E1000K	E	+	1	0	ARFGEF2	47044419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	GAG	ARFGEF2	-	superfamily_ARM-type_fold		0.493	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	G	NM_006420		47611012	1	no_errors	ENST00000371917	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47611012	G	A	47611012	3	1	180	1	0	0	0	0	1	0	0	0	853	1175	41	1	3084	1	ARFGEF2	20	47611012	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	352270	47611012	15414508	298	33821										
DIDO1	11083	genome.wustl.edu	37	chr20	61512312	61512312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gaagccgggctgcagggcgcCgcaaggcggtgtgggcagca	20	11	0	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:61512312C>T	ENST00000266070.4	-	16	5321	c.4996G>A	c.(4996-4998)Ggc>Agc	p.G1666S	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1666S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1666					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCAGGGCGCCGCAAGGCGGT	0.731																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													12	14	13					20																	61512312		2180	4254	6434	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4996G>A	20.37:g.61512312C>T	ENSP00000266070:p.Gly1666Ser		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.G1666S	ENST00000266070.4	37	c.4996	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	9.117	1.007981	0.19199	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.07327	3.2;3.2	5.31	-10.6	0.00265	.	1.116470	0.07013	N	0.825376	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	0.999999	B	0.15930	0.015	B	0.04013	0.001	T	0.35599	-0.9782	10	0.07990	T	0.79	-2.833	5.0414	0.14462	0.0869:0.3809:0.3518:0.1804	.	1666	Q9BTC0	DIDO1_HUMAN	S	1666	ENSP00000266070:G1666S;ENSP00000378752:G1666S	ENSP00000266070:G1666S	G	-	1	0	DIDO1	60982757	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.382000	0.02546	-2.499000	0.00511	-0.136000	0.14681	GGC	DIDO1	-	NULL		0.731	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61512312	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.000	T	T	61512312	C	T	61512312	3	4	180	1	0	0	0	0	1	0	0	0	4532	652	23	2	1730	2	DIDO1	20	61512312	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	13901300	61512312	1513208	299	33822										
ZBTB46	140685	genome.wustl.edu	37	chr20	62421495	62421495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agaaacatcatcagggccatCggccttgggctcctgatcct	10	13	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr20:62421495C>T	ENST00000245663.4	-	2	766	c.616G>A	c.(616-618)Gat>Aat	p.D206N	ZBTB46_ENST00000302995.2_Missense_Mutation_p.D206N|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.D206N	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	206					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCAGGGCCATCGGCCTTGGGC	0.602																																																	0													60	56	57					20																	62421495		2203	4300	6503	SO:0001583	missense	140685			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.616G>A	20.37:g.62421495C>T	ENSP00000245663:p.Asp206Asn		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D206N	ENST00000245663.4	37	c.616	CCDS13538.1	20	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617476	0.28801	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.09817	2.94;2.94;2.94	5.64	3.71	0.42584	.	0.407145	0.28748	N	0.014273	T	0.11281	0.0275	L	0.53249	1.67	0.20873	N	0.999831	B	0.17465	0.022	B	0.08055	0.003	T	0.21415	-1.0246	10	0.25751	T	0.34	.	11.3463	0.49563	0.0:0.8531:0.0:0.1469	.	206	Q86UZ6	ZBT46_HUMAN	N	206	ENSP00000245663:D206N;ENSP00000303102:D206N;ENSP00000378536:D206N	ENSP00000245663:D206N	D	-	1	0	ZBTB46	61891939	0.995000	0.38212	0.193000	0.23327	0.555000	0.35460	3.661000	0.54503	0.750000	0.32877	0.650000	0.86243	GAT	ZBTB46	-	NULL		0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2	C	NM_025224		62421495	-1	no_errors	ENST00000245663	ensembl	human	known	70_37	missense	SNP	0.376	T	T	62421495	C	T	62421495	3	4	180	1	0	0	0	0	1	0	0	0	17577	884	31	1	1169	1	ZBTB46	20	62421495	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	909183	62421495	604025	300	33823										
TTC3	7267	genome.wustl.edu	37	chr21	38460535	38460535	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	atggtgtagtaaaccaatttCtgtcctgcaagattattgcg	9	7	1	1	rs556511744		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr21:38460535C>T	ENST00000399017.2	+	4	2974	c.227C>T	c.(226-228)tCt>tTt	p.S76F	TTC3_ENST00000399010.1_Missense_Mutation_p.S76F|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.S76F|TTC3_ENST00000354749.2_Missense_Mutation_p.S76F|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	76					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAACCAATTTCTGTCCTGCAA	0.318													C|||	1	0.000199681	8e-04	0	5008	,	,		18752	0		0	False		,,,				2504	0				Ovarian(38;194 1649 35661)												0													73	64	67					21																	38460535		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.227C>T	21.37:g.38460535C>T	ENSP00000381981:p.Ser76Phe		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.S76F	ENST00000399017.2	37	c.227	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401171	0.42613	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.48836	2.62;0.8;2.62;2.96;2.96;2.96	4.82	3.79	0.43588	.	0.756765	0.11678	N	0.540113	T	0.45875	0.1364	L	0.51422	1.61	0.80722	D	1	P	0.35033	0.481	B	0.39617	0.305	T	0.50608	-0.8808	10	0.72032	D	0.01	-13.4679	9.3947	0.38394	0.3181:0.6819:0.0:0.0	.	76	P53804	TTC3_HUMAN	F	76	ENSP00000403943:S76F;ENSP00000408456:S76F;ENSP00000391891:S76F;ENSP00000347889:S76F;ENSP00000381981:S76F;ENSP00000346791:S76F	ENSP00000346791:S76F	S	+	2	0	TTC3	37382405	1.000000	0.71417	0.975000	0.42487	0.826000	0.46750	2.882000	0.48546	2.359000	0.80004	0.557000	0.71058	TCT	TTC3	-	NULL		0.318	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	C			38460535	1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	0.995	T	T	38460535	C	T	38460535	3	4	180	1	0	0	0	0	1	0	0	0	16728	913	32	1	237	1	TTC3	21	38460535	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		38460535	9669360	301	33824										
HSF2BP	11077	genome.wustl.edu	37	chr21	45012110	45012110	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	taaccaccccccttaccactCaaaagccaccacagcaaagg	4	18	1	0	rs79536904		TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr21:45012110C>T	ENST00000291560.2	-	8	1123	c.792G>A	c.(790-792)ttG>ttA	p.L264L	HSF2BP_ENST00000542962.1_Silent_p.L189L	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	264					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CCTTACCACTCAAAAGCCACC	0.473																																																	0													166	125	139					21																	45012110		2203	4300	6503	SO:0001819	synonymous_variant	11077			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.792G>A	21.37:g.45012110C>T			B4DX36	Silent	SNP	superfamily_ARM-type_fold	p.L264	ENST00000291560.2	37	c.792	CCDS13697.1	21																																																																																			HSF2BP	-	superfamily_ARM-type_fold		0.473	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2BP	HGNC	protein_coding	OTTHUMT00000195620.1	C	NM_007031		45012110	-1	no_errors	ENST00000291560	ensembl	human	known	70_37	silent	SNP	0.977	T	T	45012110	C	T	45012110	2	4	180	1	0	0	0	0	0	0	0	1	7417	825	29	1		1	HSF2BP	21	45012110	Silent	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	6551575	45012110	3117785	302	33825										
DIP2A	23181	genome.wustl.edu	37	chr21	47975972	47975972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	tcgcatacttggacttcagcGtgtcaaccactgggatatta	9	10	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr21:47975972G>A	ENST00000417564.2	+	29	3487	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M	DIP2A_ENST00000427143.2_Missense_Mutation_p.V1092M|DIP2A_ENST00000318711.7_Missense_Mutation_p.V1157M|DIP2A_ENST00000400274.1_Missense_Mutation_p.V1152M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1156					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGACTTCAGCGTGTCAACCAC	0.498																																																	0													169	170	170					21																	47975972		1942	4135	6077	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3466G>A	21.37:g.47975972G>A	ENSP00000392066:p.Val1156Met		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1157M	ENST00000417564.2	37	c.3469	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284956	0.80803	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.39	5.39	0.77823	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000002	T	0.68723	0.3032	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.993;0.992	T	0.71961	-0.4434	10	0.54805	T	0.06	-25.3207	18.1777	0.89767	0.0:0.0:1.0:0.0	.	1157;1092;1156	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	M	1152;1092;1157;1156	ENSP00000383133:V1152M;ENSP00000400528:V1092M;ENSP00000323633:V1157M;ENSP00000392066:V1156M	ENSP00000323633:V1157M	V	+	1	0	DIP2A	46800400	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	9.689000	0.98673	2.526000	0.85167	0.563000	0.77884	GTG	DIP2A	-	pfam_AMP-dep_Synth/Lig		0.498	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	G	NM_015151		47975972	1	no_errors	ENST00000318711	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47975972	G	A	47975972	3	1	180	1	0	0	0	0	1	0	0	0	4537	1145	40	2	3662	2	DIP2A	21	47975972	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2963862	47975972	153923	303	33826										
MTMR3	8897	genome.wustl.edu	37	chr22	30414060	30414060	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgatgatccccccctgagcCggtgagcccagggtgatgcc	13	15	0	5			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr22:30414060C>T	ENST00000401950.2	+	16	2161	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Splice_Site_p.R471W|MTMR3_ENST00000351488.3_Splice_Site_p.R607W|MTMR3_ENST00000333027.3_Splice_Site_p.R607W|MTMR3_ENST00000406629.1_Splice_Site_p.R607W|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	607					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCCCTGAGCCGGTGAGCCCA	0.622																																																	0													57	48	51					22																	30414060		2203	4300	6503	SO:0001630	splice_region_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1820+1C>T	22.37:g.30414060C>T			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R607W	ENST00000401950.2	37	c.1819	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313609	0.81358	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94376	-3.2;-3.18;-3.41;-3.23;-3.18	5.73	4.68	0.58851	.	0.106561	0.64402	D	0.000008	D	0.95793	0.8631	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.987;0.992	D	0.95433	0.8518	10	0.87932	D	0	.	11.041	0.47831	0.3566:0.6434:0.0:0.0	.	607;607;607	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	W	607;607;471;607;607	ENSP00000384651:R607W;ENSP00000331649:R607W;ENSP00000318070:R471W;ENSP00000307271:R607W;ENSP00000384077:R607W	ENSP00000318070:R471W	R	+	1	2	MTMR3	28744060	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	6.311000	0.72835	2.713000	0.92767	0.591000	0.81541	CGG	MTMR3	-	NULL		0.622	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	C	NM_021090	Missense_Mutation	30414060	1	no_errors	ENST00000401950	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30414060	C	T	30414060	5	4	180	1	0	0	0	0	0	0	1	0	9968	666	23	2	1873	2	MTMR3	22	30414060	Splice_Site	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09		30414060	20890506	304	33827										
SYN3	8224	genome.wustl.edu	37	chr22	32914295	32914295	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	gcttccagatctctggggctGaggagactgagcttggcgag	16	9	1	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr22:32914295G>A	ENST00000358763.2	-	13	1587	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	SYN3_ENST00000332840.5_Nonsense_Mutation_p.Q449*|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	449	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCTGGGGCTGAGGAGACTGA	0.532																																																	0													46	56	53					22																	32914295		2203	4300	6503	SO:0001587	stop_gained	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1345C>T	22.37:g.32914295G>A	ENSP00000351614:p.Gln449*		B1B1F9	Nonsense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.Q449*	ENST00000358763.2	37	c.1345	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	G	40	7.991316	0.98599	.	.	ENSG00000185666	ENST00000358763;ENST00000332840	.	.	.	5.86	5.86	0.93980	.	0.467728	0.22162	N	0.063769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-4.7811	20.1772	0.98182	0.0:0.0:1.0:0.0	.	.	.	.	X	449	.	ENSP00000330219:Q449X	Q	-	1	0	SYN3	31244295	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.600000	0.61083	2.778000	0.95560	0.655000	0.94253	CAG	SYN3	-	NULL		0.532	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	G			32914295	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	32914295	G	A	32914295	4	1	180	1	0	0	0	0	0	1	0	0	15472	1299	45	1	405	1	SYN3	22	32914295	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	2500235	32914295	18390271	305	33828										
TCF20	6942	genome.wustl.edu	37	chr22	42609826	42609826	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ttcagaatttgtgcagctatCtgctttcttggaagatgagg	11	6	3	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chr22:42609826C>G	ENST00000359486.3	-	1	1622	c.1486G>C	c.(1486-1488)Gat>Cat	p.D496H	TCF20_ENST00000335626.4_Missense_Mutation_p.D496H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTGCAGCTATCTGCTTTCTTG	0.498																																																	0													150	162	158					22																	42609826		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1486G>C	22.37:g.42609826C>G	ENSP00000352463:p.Asp496His		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.D496H	ENST00000359486.3	37	c.1486	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009655	0.54361	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.34667	1.35;1.35	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.52041	-0.8628	10	0.72032	D	0.01	-23.1401	20.2985	0.98592	0.0:1.0:0.0:0.0	.	496;496	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	H	496	ENSP00000352463:D496H;ENSP00000335561:D496H	ENSP00000335561:D496H	D	-	1	0	TCF20	40939770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.060000	0.64312	2.793000	0.96121	0.655000	0.94253	GAT	TCF20	-	NULL		0.498	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	C	NM_181492		42609826	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42609826	C	G	42609826	3	3	180	1	0	0	0	0	1	0	0	0	15720	913	32	1	4434	1	TCF20	22	42609826	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	9695531	42609826	8694740	306	33829										
NLGN4X	57502	genome.wustl.edu	37	chrX	5821630	5821630	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cccagcatgatgtcgtagttGaggaactcgccttgctccat	10	12	0	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:5821630G>C	ENST00000381095.3	-	5	1716	c.1089C>G	c.(1087-1089)ctC>ctG	p.L363L	NLGN4X_ENST00000381092.1_Silent_p.L363L|NLGN4X_ENST00000275857.6_Silent_p.L363L|NLGN4X_ENST00000538097.1_Silent_p.L363L|NLGN4X_ENST00000381093.2_Silent_p.L383L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	363	Interaction with NRXN1.				adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGTCGTAGTTGAGGAACTCGC	0.602																																																	0													42	33	36					X																	5821630		2203	4296	6499	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1089C>G	X.37:g.5821630G>C			Q6UX10|Q9ULG0	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L383	ENST00000381095.3	37	c.1149	CCDS14126.1	X																																																																																			NLGN4X	-	pfam_CarbesteraseB		0.602	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5821630	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	silent	SNP	0.057	C	C	5821630	G	C	5821630	2	2	180	1	0	0	0	0	0	0	0	1	10488	1277	45	1		1	NLGN4X	23	5821630	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09		5821630	149448930	307	33830										
MAP7D2	256714	genome.wustl.edu	37	chrX	20082889	20082889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cgtctttctttggccaatctCtgcctctcatctgatttcaa	5	13	6	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:20082889C>G	ENST00000379651.3	-	2	183	c.165G>C	c.(163-165)caG>caC	p.Q55H	MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q55H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q55H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q11H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	55					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGGCCAATCTCTGCCTCTCAT	0.403																																																	0													222	166	185					X																	20082889		2203	4300	6503	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.165G>C	X.37:g.20082889C>G	ENSP00000368972:p.Gln55His		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.Q55H	ENST00000379651.3	37	c.165	CCDS14195.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.62|13.62	2.292079|2.292079	0.40594|0.40594	.|.	.|.	ENSG00000184368|ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000443379;ENST00000452324;ENST00000330274|ENST00000544957	T;T;T;T|.	0.09073|.	3.02;3.02;3.02;3.02|.	5.26|5.26	-3.12|-3.12	0.05282|0.05282	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.52175|0.52175	0.1718|0.1718	L|L	0.42008|0.42008	1.315|1.315	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;0.998;1.0|.	D;D;D;D;D|.	0.80764|.	0.986;0.989;0.994;0.969;0.986|.	T|T	0.48127|0.48127	-0.9062|-0.9062	10|5	0.39692|.	T|.	0.17|.	-22.4501|-22.4501	11.3331|11.3331	0.49487|0.49487	0.0:0.4691:0.0:0.5309|0.0:0.4691:0.0:0.5309	.|.	55;11;55;55;55|.	B7Z3S7;C9JYW0;Q96T17-2;B5ME62;Q96T17|.	.;.;.;.;MA7D2_HUMAN|.	H|T	55;55;55;11;55|4	ENSP00000368972:Q55H;ENSP00000368964:Q55H;ENSP00000388239:Q55H;ENSP00000413301:Q11H|.	ENSP00000332677:Q55H|.	Q|R	-|-	3|2	2|0	MAP7D2|MAP7D2	19992810|19992810	0.983000|0.983000	0.35010|0.35010	0.976000|0.976000	0.42696|0.42696	0.924000|0.924000	0.55760|0.55760	0.032000|0.032000	0.13732|0.13732	-0.654000|-0.654000	0.05394|0.05394	-0.881000|-0.881000	0.02953|0.02953	CAG|AGA	MAP7D2	-	NULL		0.403	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	C	NM_152780		20082889	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	missense	SNP	0.992	G	G	20082889	C	G	20082889	3	3	180	1	0	0	0	0	1	0	0	0	9291	912	32	1	2216	1	MAP7D2	23	20082889	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	14261259	20082889	135187671	308	33831										
CYBB	1536	genome.wustl.edu	37	chrX	37668873	37668873	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	aaagatgtgatcacaggcctGaaacaaaagactttgtatgg	10	6	1	4			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:37668873G>A	ENST00000378588.4	+	12	1582	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Silent_p.L238L|CYBB_ENST00000545017.1_Silent_p.L473L	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	505			L -> R (in CGD; dbSNP:rs151344490). {ECO:0000269|PubMed:11462241}.		antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TCACAGGCCTGAAACAAAAGA	0.408																																																	0													104	79	88					X																	37668873		2202	4299	6501	SO:0001819	synonymous_variant	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1515G>A	X.37:g.37668873G>A			A8K138|Q2PP16	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L505	ENST00000378588.4	37	c.1515	CCDS14242.1	X																																																																																			CYBB	-	pfam_Fe_red_NAD-bd_6		0.408	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	G			37668873	1	no_errors	ENST00000378588	ensembl	human	known	70_37	silent	SNP	0.986	A	A	37668873	G	A	37668873	2	1	180	1	0	0	0	0	0	0	0	1	4138	1277	45	1		1	CYBB	23	37668873	Silent	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	17585984	37668873	117601687	309	33832										
PCDH19	57526	genome.wustl.edu	37	chrX	99597061	99597061	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ctgttgccctctaagtccttGaaggtggagctgctgggttg	14	9	1	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:99597061G>C	ENST00000373034.4	-	5	4363	c.2688C>G	c.(2686-2688)ttC>ttG	p.F896L	PCDH19_ENST00000420881.2_Missense_Mutation_p.F848L|PCDH19_ENST00000255531.7_Missense_Mutation_p.F849L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	896					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						CTAAGTCCTTGAAGGTGGAGC	0.463																																																	0													170	154	159					X																	99597061		2070	4169	6239	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2688C>G	X.37:g.99597061G>C	ENSP00000362125:p.Phe896Leu		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F896L	ENST00000373034.4	37	c.2688	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612094	0.87258	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.57595	0.39;0.84;0.54	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.76494	0.982;0.999;0.998	D;D;D	0.85130	0.952;0.997;0.993	T	0.50440	-0.8828	10	0.02654	T	1	.	13.7448	0.62868	0.0752:0.0:0.9248:0.0	.	896;849;848	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	L	848;896;849	ENSP00000400327:F848L;ENSP00000362125:F896L;ENSP00000255531:F849L	ENSP00000255531:F849L	F	-	3	2	PCDH19	99483717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.290000	0.72712	1.185000	0.42971	0.600000	0.82982	TTC	PCDH19	-	NULL		0.463	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99597061	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	C	C	99597061	G	C	99597061	3	2	180	1	0	0	0	0	1	0	0	0	11538	1281	45	1	766	1	PCDH19	23	99597061	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	61928188	99597061	55673499	310	33833										
STAG2	10735	genome.wustl.edu	37	chrX	123184049	123184049	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cattcagtgatgcgatagctGaaattcgagctatttgcatt	9	7	1	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:123184049G>A	ENST00000371160.1	+	11	1197	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	STAG2_ENST00000371157.3_Missense_Mutation_p.E303K|STAG2_ENST00000371145.3_Missense_Mutation_p.E303K|STAG2_ENST00000354548.5_Missense_Mutation_p.E234K|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.E303K|STAG2_ENST00000218089.9_Missense_Mutation_p.E303K	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	303	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGCGATAGCTGAAATTCGAGC	0.358																																																	0													227	192	204					X																	123184049		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.907G>A	X.37:g.123184049G>A	ENSP00000360202:p.Glu303Lys		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.E303K	ENST00000371160.1	37	c.907	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.393527	0.96009	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.54	5.54	0.83059	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.91635	0.93;0.999	T	0.51568	-0.8689	10	0.36615	T	0.2	-7.3271	18.6859	0.91563	0.0:0.0:1.0:0.0	.	303;303	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	K	303;303;234;303;303;303;303	ENSP00000218089:E303K;ENSP00000397265:E303K;ENSP00000346555:E234K;ENSP00000360202:E303K;ENSP00000360199:E303K;ENSP00000360187:E303K;ENSP00000360186:E303K	ENSP00000218089:E303K	E	+	1	0	STAG2	123011730	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.813000	0.99286	2.444000	0.82710	0.600000	0.82982	GAA	STAG2	-	superfamily_ARM-type_fold		0.358	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	G	NM_006603		123184049	1	no_errors	ENST00000218089	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123184049	G	A	123184049	3	1	180	1	0	0	0	0	1	0	0	0	15273	1291	45	1	941	1	STAG2	23	123184049	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	23586988	123184049	32086511	311	33834										
USP26	83844	genome.wustl.edu	37	chrX	132159590	132159590	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	caacatctcttcaaagatctCattatgcatgtaaaagaaga	5	8	3	3			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:132159590C>T	ENST00000511190.1	-	6	3128	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	USP26_ENST00000370832.1_Missense_Mutation_p.E887K|USP26_ENST00000406273.1_Missense_Mutation_p.E887K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	887					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.E887K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCAAAGATCTCATTATGCATG	0.463																																					NSCLC(104;342 1621 36940 47097 52632)												1	Substitution - Missense(1)	urinary_tract(1)											139	111	121					X																	132159590		2203	4300	6503	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2659G>A	X.37:g.132159590C>T	ENSP00000423390:p.Glu887Lys		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E887K	ENST00000511190.1	37	c.2659	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336165	0.41398	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55760	0.5;0.5;0.5	3.68	1.9	0.25705	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.426572	0.17341	N	0.177756	T	0.39384	0.1076	L	0.47190	1.495	0.22468	N	0.999074	P	0.36660	0.564	B	0.33690	0.168	T	0.30851	-0.9964	10	0.62326	D	0.03	-6.4553	5.0243	0.14376	0.0:0.716:0.0:0.284	.	887	Q9BXU7	UBP26_HUMAN	K	887	ENSP00000359869:E887K;ENSP00000423390:E887K;ENSP00000384360:E887K	ENSP00000359869:E887K	E	-	1	0	USP26	131987256	0.738000	0.28186	0.720000	0.30636	0.959000	0.62525	0.092000	0.15066	0.369000	0.24510	0.509000	0.49947	GAG	USP26	-	pfscan_Peptidase_C19		0.463	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	C	NM_031907		132159590	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	missense	SNP	0.975	T	T	132159590	C	T	132159590	3	4	180	1	0	0	0	0	1	0	0	0	17088	835	29	1	85	1	USP26	23	132159590	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	8975541	132159590	23110970	312	33835										
VGLL1	51442	genome.wustl.edu	37	chrX	135631026	135631026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	agccccagcctgatgggaaaCgtgagcctctcctaagtctc	10	14	2	2			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:135631026C>T	ENST00000370634.3	+	3	663	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					TGATGGGAAACGTGAGCCTCT	0.612																																																	0													95	89	91					X																	135631026		2203	4300	6503	SO:0001583	missense	51442			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"vestigial like 1 (Drosophila)"			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.493C>T	X.37:g.135631026C>T	ENSP00000359668:p.Arg165Cys		Q5H915	Missense_Mutation	SNP	pfam_Vg_Tdu,smart_TDU_repeat	p.R165C	ENST00000370634.3	37	c.493	CCDS14658.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.728243|-1.728243	0.00694|0.00694	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634|ENST00000440515	T|.	0.46451|.	0.87|.	5.81|5.81	0.378|0.378	0.16204|0.16204	.|.	0.641717|.	0.18228|.	N|.	0.147679|.	T|T	0.09512|0.09512	0.0234|0.0234	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.26849|0.26849	-1.0091|-1.0091	10|5	0.37606|.	T|.	0.19|.	2.3975|2.3975	0.9708|0.9708	0.01415|0.01415	0.1547:0.1805:0.1571:0.5077|0.1547:0.1805:0.1571:0.5077	.|.	165|.	Q99990|.	VGLL1_HUMAN|.	C|I	165|129	ENSP00000359668:R165C|.	ENSP00000359668:R165C|.	R|T	+|+	1|2	0|0	VGLL1|VGLL1	135458692|135458692	0.610000|0.610000	0.26983|0.26983	0.000000|0.000000	0.03702|0.03702	0.556000|0.556000	0.35491|0.35491	0.407000|0.407000	0.21049|0.21049	-0.289000|-0.289000	0.09038|0.09038	-0.340000|-0.340000	0.08031|0.08031	CGT|ACA	VGLL1	-	NULL		0.612	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL1	HGNC	protein_coding	OTTHUMT00000058493.1	C	NM_016267		135631026	1	no_errors	ENST00000370634	ensembl	human	known	70_37	missense	SNP	0.001	T	T	135631026	C	T	135631026	3	4	180	1	0	0	0	0	1	0	0	0	17189	536	19	2	499	2	VGLL1	23	135631026	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	3471436	135631026	19639534	313	33836										
ZIC3	7547	genome.wustl.edu	37	chrX	136649777	136649777	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	ccccgggagggcaagtctttCaaggcgaagtacaaactggt	13	10	2	0			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:136649777C>G	ENST00000287538.5	+	1	1477	c.927C>G	c.(925-927)ttC>ttG	p.F309L	ZIC3_ENST00000370606.3_Missense_Mutation_p.F309L	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	309	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCTTTCAAGGCGAAGT	0.607																																																	0													69	76	74					X																	136649777		2203	4300	6503	SO:0001583	missense	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.927C>G	X.37:g.136649777C>G	ENSP00000287538:p.Phe309Leu		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F309L	ENST00000287538.5	37	c.927	CCDS14663.1	X	.	.	.	.	.	.	.	.	.	.	c	18.05	3.536105	0.64972	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.41065	1.01;1.01	4.58	3.72	0.42706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149686	0.64402	D	0.000009	T	0.69788	0.3150	H	0.95365	3.66	0.47511	D	0.999442	D	0.64830	0.994	D	0.71414	0.973	T	0.73379	-0.4001	10	0.87932	D	0	.	7.6086	0.28115	0.0:0.8027:0.0:0.1973	.	309	O60481	ZIC3_HUMAN	L	309	ENSP00000287538:F309L;ENSP00000359638:F309L	ENSP00000287538:F309L	F	+	3	2	ZIC3	136477443	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.023000	0.49666	0.930000	0.37217	0.597000	0.82753	TTC	ZIC3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.607	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	C			136649777	1	no_errors	ENST00000287538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	136649777	C	G	136649777	3	3	180	1	0	0	0	0	1	0	0	0	17710	825	29	1	929	1	ZIC3	23	136649777	Missense_Mutation	SNP	C	TCGA-Q1-A5R2-01A-11D-A28B-09	1018751	136649777	18620783	314	33837										
HAUS7	55559	genome.wustl.edu	37	chrX	152719932	152719932	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520634920634921	164	1.16432856686305e-59	4.0155259581408	5.59062937062937	3.3047100591716	0.0232539851398731	0.0791451424058839	123	cggtctccacggccttcgcaGaggtgtcagcaactgccatg	12	14	2	1			TCGA-Q1-A5R2-01A-11D-A28B-09	TCGA-Q1-A5R2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c14c1b6f-f669-4562-962e-943f192674a6	ae505e41-657f-4eb3-bdb1-61094063cad5	g.chrX:152719932G>A	ENST00000370211.4	-	9	1038	c.995C>T	c.(994-996)tCt>tTt	p.S332F	TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_3'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.S391F|TREX2_ENST00000338525.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	332					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						GGCCTTCGCAGAGGTGTCAGC	0.642																																																	0													40	28	32					X																	152719932		2203	4299	6502	SO:0001583	missense	55559			AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"HAUS augmin-like complex subunits"	32979	protein-coding gene	gene with protein product	"UCH37 interacting protein 1", "26S proteasome-associated UCH interacting protein 1"	300540	"UCHL5 interacting protein"	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.995C>T	X.37:g.152719932G>A	ENSP00000359230:p.Ser332Phe		B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	NULL	p.S391F	ENST00000370211.4	37	c.1172	CCDS35438.1	X	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550079	0.45383	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212	T;T;T	0.33438	1.41;1.41;1.41	4.88	4.01	0.46588	.	0.595751	0.17220	N	0.182348	T	0.45034	0.1322	M	0.65498	2.005	0.20403	N	0.999909	P;D	0.57571	0.944;0.98	P;P	0.55303	0.66;0.773	T	0.32903	-0.9889	10	0.87932	D	0	-2.115	10.6983	0.45911	0.0:0.1897:0.8103:0.0	.	332;391	Q99871;Q99871-2	HAUS7_HUMAN;.	F	322;332;391	ENSP00000359230:S322F;ENSP00000359239:S332F;ENSP00000359231:S391F	ENSP00000359230:S322F	S	-	2	0	HAUS7	152373126	0.340000	0.24792	0.002000	0.10522	0.037000	0.13140	2.747000	0.47475	1.131000	0.42111	0.529000	0.55759	TCT	HAUS7	-	NULL		0.642	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HAUS7	HGNC	protein_coding	OTTHUMT00000060963.2	G	NM_017518		152719932	-1	no_errors	ENST00000370212	ensembl	human	known	70_37	missense	SNP	0.004	A	A	152719932	G	A	152719932	3	1	180	1	0	0	0	0	1	0	0	0	6991	942	33	1	119	1	HAUS7	23	152719932	Missense_Mutation	SNP	G	TCGA-Q1-A5R2-01A-11D-A28B-09	16070155	152719932	2550628	315	33838										
USP33	23032	genome.wustl.edu	37	chr1	78189054	78189054	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ctgcactgaactaatgattgTtccatcaaatatgtctgaaa	6	8	2	3			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:78189054T>G	ENST00000370793.1	-	13	1790	c.1444A>C	c.(1444-1446)Aca>Cca	p.T482P	USP33_ENST00000370794.3_Missense_Mutation_p.T451P|USP33_ENST00000357428.1_Missense_Mutation_p.T482P|USP33_ENST00000370792.3_Missense_Mutation_p.T482P	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	482	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTAATGATTGTTCCATCAAAT	0.333																																					Melanoma(152;72 1870 11110 26780 42647)												0													168	147	154					1																	78189054		2203	4299	6502	SO:0001583	missense	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1444A>C	1.37:g.78189054T>G	ENSP00000359829:p.Thr482Pro		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.T482P	ENST00000370793.1	37	c.1444	CCDS678.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.409631|4.409631	0.83340|0.83340	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40743|0.40743	0.1129|0.1129	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.51240	.|0.93;0.93;0.943	.|P;P;P	.|0.56343	.|0.721;0.796;0.762	T|T	0.32640|0.32640	-0.9899|-0.9899	5|10	.|0.46703	.|T	.|0.11	.|.	15.3163|15.3163	0.74081|0.74081	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|482;451;482	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7	.|.;.;UBP33_HUMAN	D|P	86|451;482;482;482	.|ENSP00000359830:T451P;ENSP00000359829:T482P;ENSP00000350009:T482P;ENSP00000359828:T482P	.|ENSP00000350009:T482P	E|T	-|-	3|1	2|0	USP33|USP33	77961642|77961642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.880000|3.880000	0.56145|0.56145	2.087000|2.087000	0.62958|0.62958	0.533000|0.533000	0.62120|0.62120	GAA|ACA	USP33	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.333	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	T	NM_015017		78189054	-1	no_errors	ENST00000357428	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78189054	T	G	78189054	3	3	181	1	0	0	0	0	1	0	0	0	17095	1725	60	5	1448	5	USP33	1	78189054	Missense_Mutation	SNP	T	TCGA-Q1-A5R3-01A-11D-A28B-09		78189054	171061567	1	33839										
TDRKH	11022	genome.wustl.edu	37	chr1	151752566	151752566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ataagcagcactcgctcatcGcctacatcctctgtgtccac	6	16	2	0	rs373154310	byFrequency	TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:151752566G>A	ENST00000368822.1	-	4	915	c.282C>T	c.(280-282)ggC>ggT	p.G94G	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Silent_p.G90G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Silent_p.G94G|TDRKH_ENST00000458431.2_Silent_p.G94G|TDRKH_ENST00000368827.6_Silent_p.G94G|TDRKH_ENST00000368824.3_Silent_p.G94G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	94	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGCTCATCGCCTACATCCT	0.502													G|||	2	0.000399361	0	0	5008	,	,		19665	0.002		0	False		,,,				2504	0																0													173	174	174					1																	151752566		2084	4228	6312	SO:0001819	synonymous_variant	11022			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.282C>T	1.37:g.151752566G>A			D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.G94	ENST00000368822.1	37	c.282	CCDS41394.1	1																																																																																			TDRKH	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.502	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2	G	NM_006862		151752566	-1	no_errors	ENST00000368822	ensembl	human	known	70_37	silent	SNP	0.714	A	A	151752566	G	A	151752566	2	1	181	1	0	0	0	0	0	0	0	1	15767	1074	38	2		2	TDRKH	1	151752566	Silent	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	73563512	151752566	97498055	2	33840										
FDPS	2224	genome.wustl.edu	37	chr1	155287807	155287807	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ggggacagatctgctggtatCagaaggtaatgtgggcagga	17	5	2	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:155287807C>G	ENST00000356657.6	+	5	718	c.556C>G	c.(556-558)Cag>Gag	p.Q186E	FDPS_ENST00000368356.4_Missense_Mutation_p.Q186E|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000447866.1_Missense_Mutation_p.Q120E|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	186					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGCTGGTATCAGAAGGTAAT	0.517																																																	0													84	76	79					1																	155287807		2203	4300	6503	SO:0001583	missense	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.556C>G	1.37:g.155287807C>G	ENSP00000349078:p.Gln186Glu		D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.Q186E	ENST00000356657.6	37	c.556	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177475	0.38413	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.62639	0.01;0.01;0.01	3.62	2.67	0.31697	Terpenoid synthase (2);	0.000000	0.35646	N	0.003075	T	0.37433	0.1003	L	0.49126	1.545	0.36860	D	0.888369	B	0.13145	0.007	B	0.15870	0.014	T	0.45469	-0.9259	10	0.87932	D	0	-2.5172	8.4974	0.33136	0.4224:0.5776:0.0:0.0	.	186	P14324	FPPS_HUMAN	E	120;186;186	ENSP00000391755:Q120E;ENSP00000357340:Q186E;ENSP00000349078:Q186E	ENSP00000349078:Q186E	Q	+	1	0	FDPS	153554431	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.858000	0.48356	1.069000	0.40788	0.467000	0.42956	CAG	FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.517	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155287807	1	no_errors	ENST00000356657	ensembl	human	known	70_37	missense	SNP	1.000	G	G	155287807	C	G	155287807	3	3	181	1	0	0	0	0	1	0	0	0	5821	827	29	1	570	1	FDPS	1	155287807	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	3535241	155287807	93962814	3	33841										
IQGAP3	128239	genome.wustl.edu	37	chr1	156508650	156508650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gttgatccagttcttatagaGgtggacagggtctgtgtgga	15	5	2	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:156508650G>A	ENST00000361170.2	-	26	3242	c.3232C>T	c.(3232-3234)Ctc>Ttc	p.L1078F	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1078	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTTATAGAGGTGGACAGGG	0.552																																																	0													122	103	109					1																	156508650		2203	4300	6503	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3232C>T	1.37:g.156508650G>A	ENSP00000354451:p.Leu1078Phe		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.L1078F	ENST00000361170.2	37	c.3232	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228911	0.39399	.	.	ENSG00000183856	ENST00000361170	T	0.80824	-1.42	4.71	0.365	0.16131	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.523710	0.19361	N	0.116127	T	0.62159	0.2405	L	0.40543	1.245	0.31479	N	0.667393	P	0.42518	0.782	B	0.41236	0.351	T	0.60378	-0.7275	10	0.87932	D	0	-2.5486	14.7179	0.69284	0.0:0.0:0.2359:0.7641	.	1078	Q86VI3	IQGA3_HUMAN	F	1078	ENSP00000354451:L1078F	ENSP00000354451:L1078F	L	-	1	0	IQGAP3	154775274	1.000000	0.71417	0.996000	0.52242	0.707000	0.40811	1.237000	0.32695	-0.093000	0.12396	0.591000	0.81541	CTC	IQGAP3	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	G	NM_178229		156508650	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	missense	SNP	0.999	A	A	156508650	G	A	156508650	3	1	181	1	0	0	0	0	1	0	0	0	7836	1000	35	4	1715	4	IQGAP3	1	156508650	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	1220843	156508650	92741971	4	33842										
SLAMF1	6504	genome.wustl.edu	37	chr1	160593894	160593894	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ccagacacctacctcttcttCtcaactgtagtattaccacc	3	16	3	1	rs371704387		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:160593894C>T	ENST00000302035.6	-	4	1131	c.782G>A	c.(781-783)aGa>aAa	p.R261K	SLAMF1_ENST00000538290.1_Missense_Mutation_p.R261K|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R261K|SLAMF1_ENST00000235739.5_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	261					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACCTCTTCTTCTCAACTGTAG	0.453																																																	0								C	LYS/ARG	0,4406		0,0,2203	203	184	191		782	1.2	0.2	1		191	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	26	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	261/336	160593894	1,13005	2203	4300	6503	SO:0001583	missense	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.782G>A	1.37:g.160593894C>T	ENSP00000306190:p.Arg261Lys		Q5W172|Q9HBE8	Missense_Mutation	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like	p.R261K	ENST00000302035.6	37	c.782	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165028	0.21538	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000538290;ENST00000355199	T;T;T	0.54479	0.57;0.57;0.57	3.65	1.24	0.21308	.	1.539810	0.04001	N	0.296491	T	0.20251	0.0487	L	0.42686	1.345	0.09310	N	1	B	0.26902	0.163	B	0.20384	0.029	T	0.09228	-1.0684	10	0.26408	T	0.33	-21.2777	5.1415	0.14961	0.0:0.6463:0.0:0.3537	.	261	Q13291	SLAF1_HUMAN	K	261	ENSP00000306190:R261K;ENSP00000438406:R261K;ENSP00000347333:R261K	ENSP00000306190:R261K	R	-	2	0	SLAMF1	158860518	0.972000	0.33761	0.187000	0.23214	0.010000	0.07245	1.600000	0.36762	0.302000	0.22762	-0.157000	0.13467	AGA	SLAMF1	-	NULL		0.453	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	C			160593894	-1	no_errors	ENST00000302035	ensembl	human	known	70_37	missense	SNP	0.255	T	T	160593894	C	T	160593894	3	4	181	1	0	0	0	0	1	0	0	0	14397	913	32	1	241	1	SLAMF1	1	160593894	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	4085244	160593894	88656727	5	33843										
SELE	6401	genome.wustl.edu	37	chr1	169695912	169695912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ggagagtccagcagcagaaaGtccagctaccaagggaatgt	13	9	0	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:169695912G>A	ENST00000333360.7	-	11	1820	c.1681C>T	c.(1681-1683)Ctt>Ttt	p.L561F	SELE_ENST00000367776.1_Missense_Mutation_p.L498F|SELE_ENST00000367782.4_Missense_Mutation_p.L498F|SELE_ENST00000367780.4_Missense_Mutation_p.L436F|SELE_ENST00000367775.1_Missense_Mutation_p.L436F|SELE_ENST00000367777.1_Missense_Mutation_p.L498F|SELE_ENST00000367779.4_Missense_Mutation_p.L435F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.L498F|SELE_ENST00000367774.1_Missense_Mutation_p.L435F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	561					actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GCAGCAGAAAGTCCAGCTACC	0.458																																																	0													91	75	80					1																	169695912		2203	4300	6503	SO:0001583	missense	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1681C>T	1.37:g.169695912G>A	ENSP00000331736:p.Leu561Phe		A2RRD6|P16111	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.L561F	ENST00000333360.7	37	c.1681	CCDS1283.1	1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661069	0.47572	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.22336	2.02;1.96;2.17;1.96;1.99;1.96;2.17;2.02;1.96	5.62	4.65	0.58169	.	0.236591	0.22041	N	0.065447	T	0.28466	0.0704	M	0.71581	2.175	0.21325	N	0.999722	D	0.67145	0.996	D	0.63283	0.913	T	0.03121	-1.1070	10	0.54805	T	0.06	-20.0904	11.0264	0.47746	0.0:0.0:0.8149:0.1851	.	561	P16581	LYAM2_HUMAN	F	498;498;436;435;561;498;436;498;435	ENSP00000356755:L498F;ENSP00000356756:L498F;ENSP00000356754:L436F;ENSP00000356753:L435F;ENSP00000331736:L561F;ENSP00000356751:L498F;ENSP00000356749:L436F;ENSP00000356750:L498F;ENSP00000356748:L435F	ENSP00000331736:L561F	L	-	1	0	SELE	167962536	0.929000	0.31497	0.931000	0.37212	0.034000	0.12701	2.791000	0.47829	2.648000	0.89879	0.650000	0.86243	CTT	SELE	-	NULL		0.458	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	HGNC	protein_coding	OTTHUMT00000084333.1	G	NM_000450		169695912	-1	no_errors	ENST00000333360	ensembl	human	known	70_37	missense	SNP	0.900	A	A	169695912	G	A	169695912	3	1	181	1	0	0	0	0	1	0	0	0	14043	1029	36	4	163	4	SELE	1	169695912	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	9102018	169695912	79554709	6	33844										
REN	5972	genome.wustl.edu	37	chr1	204131262	204131262	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ctcgttccttcaggctttctCggattgagggcattctcttg	10	11	3	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:204131262C>G	ENST00000272190.8	-	2	156	c.128G>C	c.(127-129)cGa>cCa	p.R43P	REN_ENST00000367195.2_Missense_Mutation_p.R43P	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	43					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CAGGCTTTCTCGGATTGAGGG	0.567											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													134	111	119					1																	204131262		2203	4300	6503	SO:0001583	missense	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.128G>C	1.37:g.204131262C>G	ENSP00000272190:p.Arg43Pro	2142	Q6FI38|Q6T5C2	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.R43P	ENST00000272190.8	37	c.128	CCDS30981.1	1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755137	0.69648	.	.	ENSG00000143839	ENST00000367195;ENST00000272190	D;D	0.85556	-2.0;-2.0	5.22	3.31	0.37934	Peptidase aspartic (1);Propeptide, peptidase A1 (1);	0.057701	0.64402	D	0.000002	D	0.85596	0.5733	N	0.24115	0.695	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	D	0.86424	0.1756	10	0.87932	D	0	.	10.8312	0.46661	0.0:0.8413:0.0:0.1587	.	43	P00797	RENI_HUMAN	P	43	ENSP00000356163:R43P;ENSP00000272190:R43P	ENSP00000272190:R43P	R	-	2	0	REN	202397885	1.000000	0.71417	0.878000	0.34440	0.810000	0.45777	4.757000	0.62213	1.324000	0.45282	0.561000	0.74099	CGA	REN	-	pfam_Propep_A1,superfamily_Peptidase_aspartic		0.567	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	C	NM_000537		204131262	-1	no_errors	ENST00000272190	ensembl	human	known	70_37	missense	SNP	0.946	G	G	204131262	C	G	204131262	3	3	181	1	0	0	0	0	1	0	0	0	13254	884	31	1	1128	1	REN	1	204131262	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	34435350	204131262	45119359	7	33845										
TMCC2	9911	genome.wustl.edu	37	chr1	205238339	205238339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	cacgcatcaagcaagtgttcGagaagaagaaccagaagtca	10	9	2	4			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:205238339G>A	ENST00000358024.3	+	3	1398	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	TMCC2_ENST00000545499.1_Missense_Mutation_p.E259K|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Missense_Mutation_p.E97K|TMCC2_ENST00000330675.7_Missense_Mutation_p.E112K	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	337						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCAAGTGTTCGAGAAGAAGAA	0.572																																																	0													62	51	55					1																	205238339		2203	4300	6503	SO:0001583	missense	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1009G>A	1.37:g.205238339G>A	ENSP00000350718:p.Glu337Lys		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.E337K	ENST00000358024.3	37	c.1009	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.427597	0.96131	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.87811	0.6271	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.998;0.999	D	0.89616	0.3845	10	0.87932	D	0	.	19.3957	0.94605	0.0:0.0:1.0:0.0	.	133;97;112;337	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	K	337;259;141;112;97	ENSP00000350718:E337K;ENSP00000437943:E259K;ENSP00000356127:E141K;ENSP00000331842:E112K;ENSP00000329436:E97K	ENSP00000329436:E97K	E	+	1	0	TMCC2	203504962	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.869000	0.99810	2.687000	0.91594	0.462000	0.41574	GAG	TMCC2	-	pfam_Predicted_TM_coiled-coil_2		0.572	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	G	NM_014858		205238339	1	no_errors	ENST00000358024	ensembl	human	known	70_37	missense	SNP	1.000	A	A	205238339	G	A	205238339	3	1	181	1	0	0	0	0	1	0	0	0	16023	1059	37	1	1019	1	TMCC2	1	205238339	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	1107077	205238339	44012282	8	33846										
CR2	1380	genome.wustl.edu	37	chr1	207643042	207643042	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	tttctgcaattcccctagaaAttttttgcccatcacctccc	3	15	2	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:207643042A>T	ENST00000367058.3	+	6	1009	c.820A>T	c.(820-822)Att>Ttt	p.I274F	CR2_ENST00000367059.3_Missense_Mutation_p.I274F|CR2_ENST00000367057.3_Missense_Mutation_p.I274F|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.I274F	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	274	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCCCTAGAAATTTTTTGCCC	0.413																																																	0													78	77	77					1																	207643042		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.820A>T	1.37:g.207643042A>T	ENSP00000356025:p.Ile274Phe		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.I274F	ENST00000367058.3	37	c.820	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380582	0.61845	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.05	3.92	0.45320	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.57858	0.2082	H	0.94658	3.565	0.47009	D	0.999283	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.63812	-0.6552	9	0.87932	D	0	.	7.9801	0.30179	0.9049:0.0:0.0951:0.0	.	274;274;274	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	F	274	ENSP00000356025:I274F;ENSP00000356024:I274F;ENSP00000356026:I274F;ENSP00000404222:I274F	ENSP00000356024:I274F	I	+	1	0	CR2	205709665	0.789000	0.28775	0.999000	0.59377	0.660000	0.38997	2.108000	0.41854	1.027000	0.39758	0.454000	0.30748	ATT	CR2	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.413	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	A	NM_001877		207643042	1	no_errors	ENST00000367057	ensembl	human	known	70_37	missense	SNP	1.000	T	T	207643042	A	T	207643042	3	4	181	1	0	0	0	0	1	0	0	0	3847	101	4	5	842	5	CR2	1	207643042	Missense_Mutation	SNP	A	TCGA-Q1-A5R3-01A-11D-A28B-09	2404703	207643042	41607579	9	33847										
APOB	338	genome.wustl.edu	37	chr2	21252562	21252562	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	tggatggcagctttctggatCatcagtgatggctttgtact	12	7	3	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:21252562C>A	ENST00000233242.1	-	12	1693	c.1566G>T	c.(1564-1566)atG>atT	p.M522I	APOB_ENST00000399256.4_Missense_Mutation_p.M522I	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	522	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTCTGGATCATCAGTGATG	0.433																																																	0													202	185	191					2																	21252562		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1566G>T	2.37:g.21252562C>A	ENSP00000233242:p.Met522Ile		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.M522I	ENST00000233242.1	37	c.1566	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	11.90	1.778028	0.31502	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.39592	1.07;1.07	5.18	3.25	0.37280	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.540447	0.15755	N	0.246220	T	0.19685	0.0473	N	0.08118	0	0.20403	N	0.999909	B	0.16802	0.019	B	0.06405	0.002	T	0.08617	-1.0713	10	0.38643	T	0.18	.	4.7438	0.13028	0.0:0.461:0.3254:0.2136	.	522	P04114	APOB_HUMAN	I	522	ENSP00000233242:M522I;ENSP00000382200:M522I	ENSP00000233242:M522I	M	-	3	0	APOB	21106067	0.000000	0.05858	0.999000	0.59377	0.874000	0.50279	-0.773000	0.04689	1.318000	0.45170	0.561000	0.74099	ATG	APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21252562	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.428	A	A	21252562	C	A	21252562	3	1	181	1	0	0	0	0	1	0	0	0	785	826	29	3	12197	3	APOB	2	21252562	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09		21252562	221946811	10	33848										
TTN	7273	genome.wustl.edu	37	chr2	179406264	179406264	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ccaagtaagtgtcatgccatCacgggaaacatcaaatatct	7	10	4	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:179406264C>G	ENST00000591111.1	-	300	92841	c.92617G>C	c.(92617-92619)Gat>Cat	p.D30873H	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23574H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D29946H|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32514H|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23449H|TTN-AS1_ENST00000415561.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23641H|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin	30873	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCATGCCATCACGGGAAACA	0.458																																																	0													94	86	89					2																	179406264		1935	4131	6066	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92617G>C	2.37:g.179406264C>G	ENSP00000465570:p.Asp30873His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D29946H	ENST00000591111.1	37	c.89836		2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588285	0.86851	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.56	5.56	0.83823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72087	0.3417	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	P;P;P;P	0.58266	0.836;0.836;0.836;0.836	T	0.74343	-0.3696	9	0.87932	D	0	.	19.5319	0.95232	0.0:1.0:0.0:0.0	.	23449;23574;23641;30873	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	29946;23449;23641;23574;23446	ENSP00000343764:D29946H;ENSP00000434586:D23449H;ENSP00000340554:D23641H;ENSP00000352154:D23574H	ENSP00000340554:D23641H	D	-	1	0	TTN	179114510	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.814000	0.86154	2.616000	0.88540	0.561000	0.74099	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179406264	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G	G	179406264	C	G	179406264	3	3	181	1	0	0	0	0	1	0	0	0	16766	826	29	1	10491	1	TTN	2	179406264	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	158153702	179406264	63793109	11	33849										
CLK1	1195	genome.wustl.edu	37	chr2	201722750	201722750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ccagaacttgtatttctgagCgagcagcttcacagtatcta	8	10	3	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:201722750C>T	ENST00000321356.4	-	6	746	c.611G>A	c.(610-612)cGc>cAc	p.R204H	CLK1_ENST00000409769.2_Missense_Mutation_p.R27H|CLK1_ENST00000434813.2_Missense_Mutation_p.R246H|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATTTCTGAGCGAGCAGCTTC	0.368																																																	0													167	160	163					2																	201722750		2202	4300	6502	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.611G>A	2.37:g.201722750C>T	ENSP00000326830:p.Arg204His		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R204H	ENST00000321356.4	37	c.611	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670459	0.47781	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.66460	-0.21;-0.21;-0.21	5.71	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.277896	0.37053	N	0.002263	T	0.51787	0.1695	L	0.31420	0.93	0.27689	N	0.946196	B;B;B;B	0.18013	0.025;0.006;0.006;0.005	B;B;B;B	0.16289	0.015;0.009;0.009;0.002	T	0.51466	-0.8702	10	0.66056	D	0.02	.	8.7935	0.34866	0.0:0.7006:0.0:0.2994	.	246;174;204;27	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	H	204;174;27;246	ENSP00000326830:R204H;ENSP00000386358:R27H;ENSP00000394734:R246H	ENSP00000326830:R204H	R	-	2	0	CLK1	201430995	0.469000	0.25846	1.000000	0.80357	0.998000	0.95712	0.627000	0.24506	1.388000	0.46506	0.563000	0.77884	CGC	CLK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.368	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	C			201722750	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	missense	SNP	0.999	T	T	201722750	C	T	201722750	3	4	181	1	0	0	0	0	1	0	0	0	3541	768	27	2	875	2	CLK1	2	201722750	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	22316486	201722750	41476623	12	33850										
ALS2	57679	genome.wustl.edu	37	chr2	202626361	202626361	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ctactgcacactggccagcaGaattctctccccacatgtac	6	16	1	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:202626361G>T	ENST00000264276.6	-	4	728	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	ALS2_ENST00000467448.1_Missense_Mutation_p.S119Y|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	119					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTGGCCAGCAGAATTCTCTCC	0.507																																																	0													105	102	103					2																	202626361		2077	4224	6301	SO:0001583	missense	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.356C>A	2.37:g.202626361G>T	ENSP00000264276:p.Ser119Tyr		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.S119Y	ENST00000264276.6	37	c.356	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752655	0.69533	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632	D;D;D	0.85258	-1.96;-1.96;-1.52	6.07	5.15	0.70609	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.453330	0.25994	N	0.026997	D	0.88093	0.6344	L	0.51914	1.62	0.80722	D	1	D;P;P;P	0.61080	0.989;0.955;0.878;0.904	P;P;P;P	0.56514	0.8;0.748;0.663;0.639	D	0.87377	0.2354	10	0.46703	T	0.11	.	16.8999	0.86110	0.0:0.1278:0.8722:0.0	.	119;119;119;119	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	Y	119	ENSP00000264276:S119Y;ENSP00000429223:S119Y;ENSP00000386384:S119Y	ENSP00000264276:S119Y	S	-	2	0	ALS2	202334606	0.999000	0.42202	0.997000	0.53966	0.844000	0.47949	3.448000	0.52943	2.885000	0.99019	0.655000	0.94253	TCT	ALS2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.507	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	G	NM_020919		202626361	-1	no_errors	ENST00000264276	ensembl	human	known	70_37	missense	SNP	0.888	T	T	202626361	G	T	202626361	3	4	181	1	0	0	0	0	1	0	0	0	550	942	33	3	4819	3	ALS2	2	202626361	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	903611	202626361	40573012	13	33851										
CAPN10	11132	genome.wustl.edu	37	chr2	241535810	241535810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ggcaccgcgtgccatgcataCgaccgggaggtccacctgcg	14	15	0	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:241535810C>T	ENST00000391984.2	+	8	1549	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.Y451Y|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	451	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GCCATGCATACGACCGGGAGG	0.652																																																	0													63	69	67					2																	241535810		2010	4169	6179	SO:0001819	synonymous_variant	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1353C>T	2.37:g.241535810C>T			A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Y451	ENST00000391984.2	37	c.1353	CCDS42838.1	2																																																																																			CAPN10	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.652	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	HGNC	protein_coding	OTTHUMT00000257191.3	C	NM_023083		241535810	1	no_errors	ENST00000391984	ensembl	human	known	70_37	silent	SNP	0.588	T	T	241535810	C	T	241535810	2	4	181	1	0	0	0	0	0	0	0	1	2628	547	19	2		2	CAPN10	2	241535810	Silent	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	38909449	241535810	1663563	14	33852										
CBLB	868	genome.wustl.edu	37	chr3	105400388	105400388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gtgaagaaccatgctttggaTtgtcccgagttggaggcctg	14	8	0	2	rs373403352		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:105400388T>C	ENST00000264122.4	-	16	2684	c.2363A>G	c.(2362-2364)aAt>aGt	p.N788S	CBLB_ENST00000394027.3_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.N788S|CBLB_ENST00000403724.1_3'UTR|CBLB_ENST00000407712.1_Intron	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	788	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATGCTTTGGATTGTCCCGAGT	0.438			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0								T	SER/ASN	0,4406		0,0,2203	113	102	106		2363	-5.9	0.9	3		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	CBLB	NM_170662.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	788/983	105400388	1,13005	2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2363A>G	3.37:g.105400388T>C	ENSP00000264122:p.Asn788Ser		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.N788S	ENST00000264122.4	37	c.2363	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311049	0.23821	0.0	1.16E-4	ENSG00000114423	ENST00000264122;ENST00000405772	D;D	0.83591	-1.72;-1.74	5.96	-5.88	0.02290	.	0.428248	0.28247	N	0.016047	T	0.73048	0.3537	L	0.43152	1.355	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.50259	-0.8849	10	0.87932	D	0	-7.6848	14.3954	0.67007	0.0:0.4647:0.0:0.5353	.	788	Q13191	CBLB_HUMAN	S	788	ENSP00000264122:N788S;ENSP00000384938:N788S	ENSP00000264122:N788S	N	-	2	0	CBLB	106883078	1.000000	0.71417	0.910000	0.35882	0.994000	0.84299	0.853000	0.27777	-1.001000	0.03434	-0.334000	0.08254	AAT	CBLB	-	NULL		0.438	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	T	NM_170662		105400388	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	0.957	C	C	105400388	T	C	105400388	3	2	181	1	0	0	0	0	1	0	0	0	2706	1493	52	5	601	5	CBLB	3	105400388	Missense_Mutation	SNP	T	TCGA-Q1-A5R3-01A-11D-A28B-09		105400388	92622042	15	33853										
DBR1	51163	genome.wustl.edu	37	chr3	137882330	137882330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	actggggtcatgttctatctCtaatatctacaggatgaaat	8	7	4	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:137882330C>T	ENST00000260803.4	-	7	955	c.802G>A	c.(802-804)Gag>Aag	p.E268K	DBR1_ENST00000505015.2_Missense_Mutation_p.E34K	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	268					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGTTCTATCTCTAATATCTAC	0.303																																																	0													82	81	81					3																	137882330		2203	4300	6503	SO:0001583	missense	51163			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.802G>A	3.37:g.137882330C>T	ENSP00000260803:p.Glu268Lys		Q96GH0|Q9NXQ6	Missense_Mutation	SNP	pfam_DBR1_C,pfam_Metallo_PEstase_dom	p.E268K	ENST00000260803.4	37	c.802	CCDS33863.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016477	0.75161	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.50548	0.74	5.87	5.87	0.94306	Lariat debranching enzyme, C-terminal (1);	0.103422	0.64402	D	0.000005	T	0.68815	0.3042	M	0.87900	2.915	0.47949	D	0.999556	P;D	0.53745	0.88;0.962	P;P	0.54965	0.765;0.7	T	0.73464	-0.3974	10	0.62326	D	0.03	-23.0164	17.713	0.88327	0.0:1.0:0.0:0.0	.	268;36	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	K	268;34	ENSP00000260803:E268K	ENSP00000260803:E268K	E	-	1	0	DBR1	139365020	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.311000	0.65786	2.780000	0.95670	0.655000	0.94253	GAG	DBR1	-	pfam_DBR1_C		0.303	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBR1	HGNC	protein_coding	OTTHUMT00000357585.1	C			137882330	-1	no_errors	ENST00000260803	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137882330	C	T	137882330	3	4	181	1	0	0	0	0	1	0	0	0	4262	922	32	1	840	1	DBR1	3	137882330	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	32481942	137882330	60140100	16	33854										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	181	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	41053752	178936082	19086348	17	33855										
ATP11B	23200	genome.wustl.edu	37	chr3	182587084	182587085	+	Frame_Shift_Ins	INS	-	-	A													0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	atgtataggtggagaaatagINSaaaaaaccagaattcatgta							TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:182587084_182587085insA	ENST00000323116.5	+	17	2091_2092	c.1831_1832insA	c.(1831-1833)gaafs	p.E611fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	611					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGGAGAAATAGAAAAAACCAGA	0.292																																																	0																																										SO:0001589	frameshift_variant	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1837dupA	3.37:g.182587090_182587090dupA	ENSP00000321195:p.Glu611fs		Q96FN1|Q9UKK7	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T613fs	ENST00000323116.5	37	c.1831_1832	CCDS33896.1	3																																																																																			ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.292	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	-	NM_014616		182587085	1	no_errors	ENST00000323116	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A	A	182587085	-	A	182587084	7	5	181	1	0	1	1	0	0	0	0	0	1121	943	33	0	1897	0	ATP11B	3	182587084	Frame_Shift_Ins	INS	-	TCGA-Q1-A5R3-01A-11D-A28B-09	3651002	182587084	15435346	18	33856										
EIF4A2	1974	genome.wustl.edu	37	chr3	186505011	186505011	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	aggcgcaaggtggactggctGactgagaagatgcatgccag	16	8	0	3			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:186505011G>C	ENST00000323963.5	+	8	931	c.867G>C	c.(865-867)ctG>ctC	p.L289L	SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Silent_p.L194L|SNORA63_ENST00000363548.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Silent_p.L290L|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	289	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGGACTGGCTGACTGAGAAGA	0.433			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0													110	106	107					3																	186505011		2203	4300	6503	SO:0001819	synonymous_variant	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.867G>C	3.37:g.186505011G>C			D3DNU9|Q53XJ6|Q96B90|Q96EA8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L290	ENST00000323963.5	37	c.870	CCDS3282.1	3																																																																																			EIF4A2	-	smart_Helicase_C,pfscan_Helicase_C		0.433	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186505011	1	no_errors	ENST00000440191	ensembl	human	known	70_37	silent	SNP	0.948	C	C	186505011	G	C	186505011	2	2	181	1	0	0	0	0	0	0	0	1	5037	1277	45	1		1	EIF4A2	3	186505011	Silent	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	3917927	186505011	11517419	19	33857										
ART3	419	genome.wustl.edu	37	chr4	77020136	77020136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	caacccatctatgtctacaaCcctggtgagtatgttctaat	6	11	3	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr4:77020136C>T	ENST00000355810.4	+	5	962	c.843C>T	c.(841-843)aaC>aaT	p.N281N	ART3_ENST00000341029.5_Silent_p.N281N|ART3_ENST00000349321.3_Silent_p.N281N|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	281					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGTCTACAACCCTGGTGAGT	0.403																																																	0													87	87	87					4																	77020136		2203	4300	6503	SO:0001819	synonymous_variant	419			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.843C>T	4.37:g.77020136C>T			Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	pfam_ART,prints_ART	p.N281	ENST00000355810.4	37	c.843	CCDS47079.1	4																																																																																			ART3	-	NULL		0.403	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ART3	HGNC	protein_coding	OTTHUMT00000252416.2	C	NM_001179		77020136	1	no_errors	ENST00000355810	ensembl	human	known	70_37	silent	SNP	0.142	T	T	77020136	C	T	77020136	2	4	181	1	0	0	0	0	0	0	0	1	999	506	18	4		4	ART3	4	77020136	Silent	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09		77020136	114134140	20	33858										
CNOT6L	246175	genome.wustl.edu	37	chr4	78641593	78641593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ggcagtactccactacctccGattaggcaagtgaacaccat	8	13	0	1	rs369854208		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr4:78641593G>A	ENST00000504123.1	-	12	1790	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	CNOT6L_ENST00000264903.4_Missense_Mutation_p.R554W			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	554	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CACTACCTCCGATTAGGCAAG	0.493																																																	0								G	TRP/ARG	0,3970		0,0,1985	168	158	161		1660	2.9	1	4		161	1,8295		0,1,4147	no	missense	CNOT6L	NM_144571.2	101	0,1,6132	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	554/556	78641593	1,12265	1985	4148	6133	SO:0001583	missense	246175			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1660C>T	4.37:g.78641593G>A	ENSP00000424896:p.Arg554Trp		Q9UF92	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.R554W	ENST00000504123.1	37	c.1660		4	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942364	0.53079	0.0	1.21E-4	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	T;T;T	0.33865	1.39;1.39;1.54	5.95	2.94	0.34122	.	0.076790	0.49305	U	0.000151	T	0.47377	0.1442	M	0.69823	2.125	0.41251	D	0.986714	D	0.71674	0.998	P	0.49999	0.628	T	0.58769	-0.7578	10	0.87932	D	0	-2.7866	15.0735	0.72059	0.0:0.0:0.5038:0.4962	.	554	Q96LI5	CNO6L_HUMAN	W	554;554;561	ENSP00000424896:R554W;ENSP00000264903:R554W;ENSP00000425571:R561W	ENSP00000264903:R554W	R	-	1	2	CNOT6L	78860617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.656000	0.46716	0.813000	0.34350	0.650000	0.86243	CGG	CNOT6L	-	NULL		0.493	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	HGNC	protein_coding	OTTHUMT00000362515.1	G			78641593	-1	no_errors	ENST00000264903	ensembl	human	known	70_37	missense	SNP	0.997	A	A	78641593	G	A	78641593	3	1	181	1	0	0	0	0	1	0	0	0	3628	1057	37	1	11	1	CNOT6L	4	78641593	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	1621457	78641593	112512683	21	33859										
ANK2	287	genome.wustl.edu	37	chr4	114280416	114280416	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	agtctattgagactctgattGaacgcatccctgatgaaaat	8	8	2	5			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr4:114280416G>C	ENST00000357077.4	+	38	10695	c.10642G>C	c.(10642-10644)Gaa>Caa	p.E3548Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E3515Q|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3548					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACTCTGATTGAACGCATCCC	0.448																																																	0													76	75	75					4																	114280416		2203	4299	6502	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10642G>C	4.37:g.114280416G>C	ENSP00000349588:p.Glu3548Gln		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E3548Q	ENST00000357077.4	37	c.10642	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543072	0.65198	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96587	-0.53;-0.53;-4.06	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000033	D	0.95726	0.8610	N	0.12746	0.255	0.80722	D	1	P;D	0.89917	0.816;1.0	B;D	0.85130	0.232;0.997	D	0.94070	0.7334	10	0.19590	T	0.45	.	20.1996	0.98256	0.0:0.0:1.0:0.0	.	3515;3548	Q01484;Q01484-4	ANK2_HUMAN;.	Q	3548;3515;558	ENSP00000349588:E3548Q;ENSP00000264366:E3515Q;ENSP00000422498:E558Q	ENSP00000264366:E3515Q	E	+	1	0	ANK2	114499865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	2.776000	0.95493	0.650000	0.86243	GAA	ANK2	-	NULL		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114280416	1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114280416	G	C	114280416	3	2	181	1	0	0	0	0	1	0	0	0	621	1291	45	1	10857	1	ANK2	4	114280416	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	35638823	114280416	76873860	22	33860										
PET112L	5188	genome.wustl.edu	37	chr4	152640600	152640600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gaggtctgcatagaagtagtGcttcctgtcaaacaaggact	11	8	2	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr4:152640600G>A	ENST00000515812.1	-	3	434	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	PET112_ENST00000512306.1_Missense_Mutation_p.H140Y|PET112_ENST00000263985.6_Missense_Mutation_p.H140Y																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						TAGAAGTAGTGCTTCCTGTCA	0.542																																																	0													203	173	183					4																	152640600		2203	4300	6503	SO:0001583	missense	5188																														ENST00000515812.1:c.418C>T	4.37:g.152640600G>A	ENSP00000426859:p.His140Tyr			Missense_Mutation	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	p.H140Y	ENST00000515812.1	37	c.418		4	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823202	0.90873	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306	T;T;T	0.52754	0.69;0.65;0.77	5.66	5.66	0.87406	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84634	0.0691	10	0.87932	D	0	-16.9471	19.7375	0.96212	0.0:0.0:1.0:0.0	.	140;140	D6RDU9;O75879	.;GATB_HUMAN	Y	140	ENSP00000263985:H140Y;ENSP00000426859:H140Y;ENSP00000420831:H140Y	ENSP00000263985:H140Y	H	-	1	0	PET112	152860050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.706000	0.98722	2.673000	0.90976	0.655000	0.94253	CAC	PET112	-	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu		0.542	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365672.1	G			152640600	-1	no_errors	ENST00000263985	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152640600	G	A	152640600	3	1	181	1	0	0	0	0	1	0	0	0	11758	1319	46	4	1299	4	PET112L	4	152640600	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	38360184	152640600	38513676	23	33861										
SLC6A19	340024	genome.wustl.edu	37	chr5	1219645	1219645	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	atctgcctggggacattcctCattggcttcatcttcacgct	8	13	5	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr5:1219645C>T	ENST00000304460.10	+	10	1460	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	468					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGACATTCCTCATTGGCTTCA	0.622																																																	0													145	121	129					5																	1219645		2203	4300	6503	SO:0001819	synonymous_variant	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1404C>T	5.37:g.1219645C>T			A8K446	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.L468	ENST00000304460.10	37	c.1404	CCDS34130.1	5																																																																																			SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1	C	XM_291120		1219645	1	no_errors	ENST00000304460	ensembl	human	known	70_37	silent	SNP	0.001	T	T	1219645	C	T	1219645	2	4	181	1	0	0	0	0	0	0	0	1	14712	813	29	1		1	SLC6A19	5	1219645	Silent	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09		1219645	179695615	24	33862										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5235148	5235148	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ccatcgcatggagggaagttCtgtgagggctccactcgcac	13	12	1	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr5:5235148C>T	ENST00000274181.7	+	13	2010	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	624	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGGAAGTTCTGTGAGGGCT	0.448																																																	0													64	66	65					5																	5235148		1920	4113	6033	SO:0001819	synonymous_variant	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1872C>T	5.37:g.5235148C>T			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F624	ENST00000274181.7	37	c.1872	CCDS43299.1	5																																																																																			ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.448	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	C	NM_139056		5235148	1	no_errors	ENST00000274181	ensembl	human	known	70_37	silent	SNP	1.000	T	T	5235148	C	T	5235148	2	4	181	1	0	0	0	0	0	0	0	1	261	912	32	1		1	ADAMTS16	5	5235148	Silent	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	4015503	5235148	175680112	25	33863										
DNAJC21	134218	genome.wustl.edu	37	chr5	34949771	34949771	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	aatgtgccaaaatgttgcttGaaaacagacaggtacgctta	9	7	0	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr5:34949771G>A	ENST00000342382.4	+	10	1412				DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000382021.2_Missense_Mutation_p.E437K|DNAJC21_ENST00000512136.1_Intron			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			aatgttGCTTGAAAACAGACA	0.438																																																	0													86	83	84					5																	34949771		2203	4300	6503	SO:0001627	intron_variant	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1186-504G>A	5.37:g.34949771G>A			Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E437K	ENST00000342382.4	37	c.1309	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.669629	0.00758	.	.	ENSG00000168724	ENST00000382021	T	0.41758	0.99	2.41	-0.0721	0.13741	.	.	.	.	.	T	0.15219	0.0367	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	8	0.05721	T	0.95	.	4.4464	0.11600	0.5784:0.0:0.4216:0.0	.	437	Q5F1R6-2	.	K	437	ENSP00000371451:E437K	ENSP00000371451:E437K	E	+	1	0	DNAJC21	34985528	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.599000	0.02085	-0.024000	0.13941	-0.350000	0.07774	GAA	DNAJC21	-	NULL		0.438	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	G	NM_194283		34949771	1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	0.000	A	A	34949771	G	A	34949771	1	1	181	0	1	0	0	0	0	0	0	0	4650	1291	45	1		1	DNAJC21	5	34949771	Intron	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	29714623	34949771	145965489	26	33864										
HLA-B	3106	genome.wustl.edu	37	chr6	31324114	31324114	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	aggagcgcaggtcctcgttcAgggcgatgtaatccttgccg	14	11	1	0	rs281864622		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr6:31324114A>T	ENST00000412585.2	-	3	477	c.449T>A	c.(448-450)cTg>cAg	p.L150Q		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	150	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTCCTCGTTCAGGGCGATGTA	0.697									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													31	23	26					6																	31324114		2119	4202	6321	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.449T>A	6.37:g.31324114A>T	ENSP00000399168:p.Leu150Gln		Q29764	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.L150Q	ENST00000412585.2	37	c.449	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	15.87	2.962032	0.53400	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.01252	5.1;5.1	3.18	3.18	0.36537	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.292949	0.17961	U	0.156166	T	0.14056	0.0340	H	0.99986	5.255	0.35844	D	0.826265	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.38607	-0.9653	10	0.87932	D	0	.	9.7497	0.40468	1.0:0.0:0.0:0.0	.	150;150	P30480;P01889	1B42_HUMAN;1B07_HUMAN	Q	150;29;29;161	ENSP00000399168:L150Q;ENSP00000405931:L161Q	ENSP00000399168:L150Q	L	-	2	0	HLA-B	31432093	0.992000	0.36948	0.854000	0.33618	0.042000	0.13812	3.405000	0.52630	1.471000	0.48121	0.247000	0.18012	CTG	HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.697	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	A	NM_005514		31324114	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	missense	SNP	0.998	T	T	31324114	A	T	31324114	3	4	181	1	0	0	0	0	1	0	0	0	7216	188	7	5	659	5	HLA-B	6	31324114	Missense_Mutation	SNP	A	TCGA-Q1-A5R3-01A-11D-A28B-09		31324114	139790953	27	33865										
C6orf168	84553	genome.wustl.edu	37	chr6	99771395	99771395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ctcggagaagcggccaatgcCgtggccgtgcatctcgcgtt	14	13	1	1	rs140144378		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr6:99771395C>T	ENST00000389677.5	-	4	1030	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	250						integral component of membrane (GO:0016021)											CGGCCAATGCCGTGGCCGTGC	0.512																																																	0													84	64	71					6																	99771395		2203	4300	6503	SO:0001583	missense	84553			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.748G>A	6.37:g.99771395C>T	ENSP00000374328:p.Gly250Ser		B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.G250S	ENST00000389677.5	37	c.748	CCDS34500.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.769054	0.96914	.	.	ENSG00000146267	ENST00000389677	T	0.43688	0.94	5.6	5.6	0.85130	Glutathione S-transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75354	-0.3347	10	0.87932	D	0	-24.349	19.6104	0.95604	0.0:1.0:0.0:0.0	.	250	Q5TGI0	CF168_HUMAN	S	250	ENSP00000374328:G250S	ENSP00000374328:G250S	G	-	1	0	C6orf168	99878116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.288000	0.78691	2.634000	0.89283	0.650000	0.86243	GGC	FAXC	-	superfamily_Glutathione-S-Trfase_C-like		0.512	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXC	HGNC	protein_coding	OTTHUMT00000041589.4	C	NM_032511		99771395	-1	no_errors	ENST00000389677	ensembl	human	known	70_37	missense	SNP	1.000	T	T	99771395	C	T	99771395	3	4	181	1	0	0	0	0	1	0	0	0	2348	652	23	2	493	2	C6orf168	6	99771395	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	68447281	99771395	71343672	28	33866										
DBF4	10926	genome.wustl.edu	37	chr7	87537187	87537187	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ggtaaaatacatcgaaaagtGaaaataatattaggacgaaa	8	3	0	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr7:87537187G>C	ENST00000265728.1	+	12	2238	c.1734G>C	c.(1732-1734)gtG>gtC	p.V578V		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	578					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATCGAAAAGTGAAAATAATAT	0.328																																																	0													47	53	51					7																	87537187		2202	4266	6468	SO:0001819	synonymous_variant	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1734G>C	7.37:g.87537187G>C			A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Silent	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.V578	ENST00000265728.1	37	c.1734	CCDS5611.1	7																																																																																			DBF4	-	NULL		0.328	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1	G	NM_006716		87537187	1	no_errors	ENST00000265728	ensembl	human	known	70_37	silent	SNP	0.899	C	C	87537187	G	C	87537187	2	2	181	1	0	0	0	0	0	0	0	1	4253	1277	45	1		1	DBF4	7	87537187	Silent	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09		87537187	71601476	29	33867										
ASH2L	9070	genome.wustl.edu	37	chr8	37978654	37978654	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	tatgaacgggttttgttagcCctacatgatcgaggtatgta	11	6	0	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr8:37978654C>G	ENST00000343823.6	+	10	1461	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A	ASH2L_ENST00000545394.1_Silent_p.A245A|ASH2L_ENST00000521652.1_Silent_p.A290A|RP11-90P5.5_ENST00000476186.2_RNA|ASH2L_ENST00000428278.2_Silent_p.A290A|RP11-90P5.4_ENST00000519081.1_RNA|ASH2L_ENST00000250635.7_Silent_p.A290A	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TTTTGTTAGCCCTACATGATC	0.473											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115	110	112					8																	37978654		2203	4300	6503	SO:0001819	synonymous_variant	9070			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1152C>G	8.37:g.37978654C>G		874	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.A384	ENST00000343823.6	37	c.1152	CCDS6101.1	8																																																																																			ASH2L	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.473	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASH2L	HGNC	protein_coding	OTTHUMT00000376749.4	C	NM_004674		37978654	1	no_errors	ENST00000343823	ensembl	human	known	70_37	silent	SNP	0.715	G	G	37978654	C	G	37978654	2	3	181	1	0	0	0	0	0	0	0	1	1043	610	22	4		4	ASH2L	8	37978654	Silent	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09		37978654	108385368	30	33868										
FAM135B	51059	genome.wustl.edu	37	chr8	139163857	139163857	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	aaggtgaaccgctttggcttTgctggcctgttgagttcctg	13	9	0	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr8:139163857T>G	ENST00000395297.1	-	13	3031	c.2861A>C	c.(2860-2862)cAa>cCa	p.Q954P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	954										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTTTGGCTTTGCTGGCCTGT	0.507										HNSCC(54;0.14)																																							0													157	126	136					8																	139163857		2203	4300	6503	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2861A>C	8.37:g.139163857T>G	ENSP00000378710:p.Gln954Pro		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.Q954P	ENST00000395297.1	37	c.2861	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	T	9.089	1.001360	0.19121	.	.	ENSG00000147724	ENST00000395297	T	0.15372	2.43	4.69	-2.71	0.05986	.	1.657730	0.03521	N	0.220948	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.29027	-1.0025	10	0.27785	T	0.31	.	5.6245	0.17475	0.0:0.3635:0.1559:0.4805	.	954;954;954	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	P	954	ENSP00000378710:Q954P	ENSP00000276737:Q954P	Q	-	2	0	FAM135B	139233039	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	-0.433000	0.06948	-0.855000	0.04125	-0.274000	0.10170	CAA	FAM135B	-	NULL		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	T	NM_015912		139163857	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	0.000	G	G	139163857	T	G	139163857	3	3	181	1	0	0	0	0	1	0	0	0	5464	1812	63	5	1391	5	FAM135B	8	139163857	Missense_Mutation	SNP	T	TCGA-Q1-A5R3-01A-11D-A28B-09	101185203	139163857	7200165	31	33869										
EPB41L4B	54566	genome.wustl.edu	37	chr9	112020511	112020511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ccattgcttctgtctgatttGgaatgaaccgaaactcagac	8	10	3	3			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr9:112020511G>T	ENST00000374566.3	-	7	1215	c.698C>A	c.(697-699)cCa>cAa	p.P233Q	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.P233Q	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	233	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCTGATTTGGAATGAACCG	0.438																																																	0													108	106	107					9																	112020511		1899	4129	6028	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.698C>A	9.37:g.112020511G>T	ENSP00000363694:p.Pro233Gln		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.P233Q	ENST00000374566.3	37	c.698	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918757	0.73098	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.89552	-2.53;-2.53	5.48	4.56	0.56223	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.35870	N	0.002925	D	0.95095	0.8411	H	0.94542	3.55	0.80722	D	1	D;P	0.76494	0.999;0.933	D;P	0.64410	0.925;0.897	D	0.95334	0.8432	10	0.66056	D	0.02	.	10.6578	0.45686	0.0:0.2683:0.593:0.1387	.	233;233	Q9H329-2;Q9H329	.;E41LB_HUMAN	Q	233;233;155	ENSP00000363694:P233Q;ENSP00000363685:P233Q	ENSP00000311274:P155Q	P	-	2	0	EPB41L4B	111060332	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.448000	0.73469	1.396000	0.46663	0.563000	0.77884	CCA	EPB41L4B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.438	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	G	NM_018424		112020511	-1	no_errors	ENST00000374566	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112020511	G	T	112020511	3	4	181	1	0	0	0	0	1	0	0	0	5168	1348	47	4	2236	4	EPB41L4B	9	112020511	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09		112020511	29192920	32	33870										
AKNA	80709	genome.wustl.edu	37	chr9	117121944	117121944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gaggaccctggtggcctctgCtttccctggagttgcagcca	13	13	1	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr9:117121944C>T	ENST00000307564.4	-	11	2583	c.2422G>A	c.(2422-2424)Gca>Aca	p.A808T	AKNA_ENST00000312033.3_Missense_Mutation_p.A808T|AKNA_ENST00000374075.5_Missense_Mutation_p.A727T|AKNA_ENST00000223791.3_Missense_Mutation_p.A268T|AKNA_ENST00000374088.3_Missense_Mutation_p.A808T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	808					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGGCCTCTGCTTTCCCTGGA	0.592																																																	0													94	89	91					9																	117121944		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2422G>A	9.37:g.117121944C>T	ENSP00000303769:p.Ala808Thr		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.A808T	ENST00000307564.4	37	c.2422	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	8.761	0.923671	0.18056	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.33216	2.72;2.72;2.5;2.72;1.42	3.62	1.2	0.21068	.	0.968998	0.08468	N	0.941479	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	1	B;B	0.22909	0.02;0.077	B;B	0.24848	0.012;0.056	T	0.35351	-0.9792	10	0.18276	T	0.48	-0.8718	2.8652	0.05599	0.2411:0.5583:0.0:0.2006	.	808;727	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	T	808;649;808;268;727;808	ENSP00000303769:A808T;ENSP00000363201:A808T;ENSP00000223791:A268T;ENSP00000363188:A727T;ENSP00000309222:A808T	ENSP00000223791:A268T	A	-	1	0	AKNA	116161765	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.384000	0.07389	0.287000	0.22375	0.455000	0.32223	GCA	AKNA	-	NULL		0.592	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117121944	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.000	T	T	117121944	C	T	117121944	3	4	181	1	0	0	0	0	1	0	0	0	463	797	28	4	1945	4	AKNA	9	117121944	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	5101433	117121944	24091487	33	33871										
ADAMTS14	140766	genome.wustl.edu	37	chr10	72511285	72511285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gcagcctggcctacaagtacGtcatccatgaggacctgctg	11	13	1	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr10:72511285G>A	ENST00000373207.1	+	17	2479	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.V830I	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	827	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V830I(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTACAAGTACGTCATCCATGA	0.627																																																	1	Substitution - Missense(1)	prostate(1)											64	64	64					10																	72511285		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2479G>A	10.37:g.72511285G>A	ENSP00000362303:p.Val827Ile		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.V830I	ENST00000373207.1	37	c.2488	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.798342	0.00617	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.51817	0.69;0.69	4.38	-1.56	0.08532	ADAM-TS Spacer 1 (1);	0.374525	0.25009	N	0.033850	T	0.17619	0.0423	N	0.02181	-0.65	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.14023	0.006;0.01	T	0.24297	-1.0164	10	0.12430	T	0.62	.	12.1109	0.53838	0.6462:0.0:0.3538:0.0	.	827;830	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	I	830;827	ENSP00000362304:V830I;ENSP00000362303:V827I	ENSP00000362303:V827I	V	+	1	0	ADAMTS14	72181291	0.913000	0.31002	0.019000	0.16419	0.430000	0.31655	1.786000	0.38694	-0.941000	0.03700	-1.119000	0.02030	GTC	ADAMTS14	-	pfam_ADAM_spacer1		0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72511285	1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	0.052	A	A	72511285	G	A	72511285	3	1	181	1	0	0	0	0	1	0	0	0	259	1145	40	2	2554	2	ADAMTS14	10	72511285	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09		72511285	63023462	34	33872										
KDM4DL	390245	genome.wustl.edu	37	chr11	94759051	94759051	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	agtaaaaaatatcagactccGccacaccagaattttgcaga	6	10	1	3			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr11:94759051G>T	ENST00000450979.2	+	1	630	c.330G>T	c.(328-330)ccG>ccT	p.P110P		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	110					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						ATCAGACTCCGCCACACCAGA	0.473																																																	0													9	9	9					11																	94759051		689	1589	2278	SO:0001819	synonymous_variant	390245			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.330G>T	11.37:g.94759051G>T				Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.P110	ENST00000450979.2	37	c.330	CCDS44713.1	11																																																																																			KDM4E	-	NULL		0.473	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	G	NM_001161630		94759051	1	no_errors	ENST00000450979	ensembl	human	known	70_37	silent	SNP	0.020	T	T	94759051	G	T	94759051	2	4	181	1	0	0	0	0	0	0	0	1	8152	1074	38	2		2	KDM4DL	11	94759051	Silent	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09		94759051	40247465	35	33873										
MLL	4297	genome.wustl.edu	37	chr11	118377304	118377304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	agtttcccatttgcggaccaGttcttctgaagcacacattc	7	12	2	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr11:118377304G>T	ENST00000389506.5	+	27	10688	c.10688G>T	c.(10687-10689)aGt>aTt	p.S3563I	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3566I|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3525I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3563					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTGCGGACCAGTTCTTCTGAA	0.502																																																	0													102	97	98					11																	118377304		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10688G>T	11.37:g.118377304G>T	ENSP00000374157:p.Ser3563Ile		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S3563I	ENST00000389506.5	37	c.10688	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562944	0.27915	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82255	-1.59;-1.59;-1.56	5.85	3.9	0.45041	.	0.334486	0.27595	N	0.018674	T	0.67878	0.2940	N	0.22421	0.69	0.25324	N	0.989096	P;P	0.39964	0.697;0.697	B;B	0.32289	0.143;0.143	T	0.59883	-0.7370	10	0.46703	T	0.11	.	9.6955	0.40154	0.0708:0.2937:0.6355:0.0	.	3566;3563	E9PQG7;Q03164	.;MLL1_HUMAN	I	3566;3563;3525;2473	ENSP00000436786:S3566I;ENSP00000374157:S3563I;ENSP00000346516:S3525I	ENSP00000346516:S3525I	S	+	2	0	MLL	117882514	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.446000	0.52928	0.741000	0.32674	0.585000	0.79938	AGT	MLL	-	pirsf_MeTrfase_trithorax		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118377304	1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118377304	G	T	118377304	3	4	181	1	0	0	0	0	1	0	0	0	9643	1029	36	4	10794	4	MLL	11	118377304	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	23618253	118377304	16629212	36	33874										
OAS3	4940	genome.wustl.edu	37	chr12	113403614	113403614	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gccgacctcgtggtgttcctCagctgcttcagccagttcac	10	15	3	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr12:113403614C>T	ENST00000228928.7	+	12	2648	c.2469C>T	c.(2467-2469)ctC>ctT	p.L823L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	823	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGTGTTCCTCAGCTGCTTCA	0.612																																																	0													31	33	32					12																	113403614		2037	4203	6240	SO:0001819	synonymous_variant	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2469C>T	12.37:g.113403614C>T			Q2HJ14|Q9H3P5	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.L823	ENST00000228928.7	37	c.2469	CCDS44981.1	12																																																																																			OAS3	-	pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N		0.612	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	C			113403614	1	no_errors	ENST00000228928	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113403614	C	T	113403614	2	4	181	1	0	0	0	0	0	0	0	1	10825	813	29	1		1	OAS3	12	113403614	Silent	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09		113403614	20448281	37	33875										
PCDH20	64881	genome.wustl.edu	37	chr13	61987573	61987574	+	Nonsense_Mutation	DNP	TC	TC	CA													0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gggtgtttacaggtgcatttTccgggacccacaccgagatc							TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr13:61987573_61987574TC>CA	ENST00000409186.1	-	5	2763_2764	c.658_659GA>TG	c.(658-660)GAa>TGa	p.E220*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.E220*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGTGCATTTTCCGGGACCCAC	0.515																																																	0																																										SO:0001587	stop_gained	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.658_659delinsCA	13.37:g.61987573_61987574delinsCA	ENSP00000386653:p.Glu220*		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation|Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E220G|p.E220*	ENST00000409186.1	37	c.659|c.658	CCDS9442.2	13																																																																																			PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.515	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	T|C	NM_022843		61987573|61987574	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	missense|nonsense	SNP	1.000	C|A	CA	61987574	TC	CA	61987573	4	2	181	1	0	0	0	0	0	1	0	0	11539	1783	62	5	2200	5	PCDH20	13	61987573	Nonsense_Mutation	DNP	TC	TCGA-Q1-A5R3-01A-11D-A28B-09		61987573	53182305	38	33876										
MBNL2	10150	genome.wustl.edu	37	chr13	97995334	97995334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	tagctttgctccttacctagCacctgtaacccctggagttg	8	13	0	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr13:97995334C>T	ENST00000376673.3	+	4	1185	c.404C>T	c.(403-405)gCa>gTa	p.A135V	MBNL2_ENST00000397601.1_Missense_Mutation_p.A135V|MBNL2_ENST00000343600.4_Missense_Mutation_p.A135V|MBNL2_ENST00000345429.6_Missense_Mutation_p.A135V|MBNL2_ENST00000445661.2_Intron			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	135					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CCTTACCTAGCACCTGTAACC	0.522																																																	0													89	83	85					13																	97995334		2203	4300	6503	SO:0001583	missense	10150			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"Zinc fingers, CCCH-type domain containing"	16746	protein-coding gene	gene with protein product		607327	"muscleblind-like 2 (Drosophila)"			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.404C>T	13.37:g.97995334C>T	ENSP00000365861:p.Ala135Val		Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A135V	ENST00000376673.3	37	c.404		13	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445024	0.63178	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673	T;T;T;T	0.43688	0.94;0.94;0.95;0.95	5.56	4.7	0.59300	.	0.102221	0.64402	D	0.000002	T	0.35480	0.0933	L	0.29908	0.895	0.80722	D	1	B;B;B	0.15930	0.001;0.015;0.008	B;B;B	0.23419	0.007;0.011;0.046	T	0.08722	-1.0708	10	0.37606	T	0.19	.	16.7416	0.85461	0.0:0.8706:0.1294:0.0	.	135;135;135	Q5VZF2;A2A3S3;Q5VZF2-2	MBNL2_HUMAN;.;.	V	135	ENSP00000380726:A135V;ENSP00000344214:A135V;ENSP00000267287:A135V;ENSP00000365861:A135V	ENSP00000344214:A135V	A	+	2	0	MBNL2	96793335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.654000	0.67974	1.459000	0.47892	0.650000	0.86243	GCA	MBNL2	-	NULL		0.522	MBNL2-202	KNOWN	basic	protein_coding	MBNL2	HGNC	protein_coding		C	NM_144778		97995334	1	no_errors	ENST00000376673	ensembl	human	known	70_37	missense	SNP	1.000	T	T	97995334	C	T	97995334	3	4	181	1	0	0	0	0	1	0	0	0	9377	710	25	4	414	4	MBNL2	13	97995334	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	36007761	97995334	17174544	39	33877										
ERO1L	30001	genome.wustl.edu	37	chr14	53112958	53112958	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ctttctggcatatttgctatCaatttctcagaaaataagat	5	7	3	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr14:53112958C>T	ENST00000395686.3	-	15	1483	c.1260G>A	c.(1258-1260)ttG>ttA	p.L420L		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	420					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TATTTGCTATCAATTTCTCAG	0.333																																																	0													107	109	108					14																	53112958		2203	4300	6503	SO:0001819	synonymous_variant	30001			AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"ERO1 (S. cerevisiae)-like"			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1260G>A	14.37:g.53112958C>T			A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Silent	SNP	pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1	p.L420	ENST00000395686.3	37	c.1260	CCDS9709.1	14																																																																																			ERO1L	-	pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1		0.333	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1L	HGNC	protein_coding	OTTHUMT00000276892.1	C	NM_014584		53112958	-1	no_errors	ENST00000395686	ensembl	human	known	70_37	silent	SNP	0.998	T	T	53112958	C	T	53112958	2	4	181	1	0	0	0	0	0	0	0	1	5251	825	29	1		1	ERO1L	14	53112958	Silent	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09		53112958	54236582	40	33878										
ATP10A	57194	genome.wustl.edu	37	chr15	25953178	25953178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gactggaagaggagctcctcGctgttttccagggaggattc	14	9	0	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr15:25953178G>A	ENST00000356865.6	-	12	2631	c.2520C>T	c.(2518-2520)agC>agT	p.S840S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	840					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAGCTCCTCGCTGTTTTCCA	0.502																																																	0													79	71	74					15																	25953178		2203	4300	6503	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2520C>T	15.37:g.25953178G>A			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S840	ENST00000356865.6	37	c.2520	CCDS32178.1	15																																																																																			ATP10A	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		25953178	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	silent	SNP	0.036	A	A	25953178	G	A	25953178	2	1	181	1	0	0	0	0	0	0	0	1	1117	1078	38	2		2	ATP10A	15	25953178	Silent	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09		25953178	76578214	41	33879										
ZFYVE19	84936	genome.wustl.edu	37	chr15	41099875	41099875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gattccctgctctaggtcgcGgcgggacagtgccagtgggc	16	12	1	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr15:41099875G>T	ENST00000355341.4	+	1	589	c.88G>T	c.(88-90)Ggc>Tgc	p.G30C	ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000336455.5_Intron|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.G30C	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	30					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCTAGGTCGCGGCGGGACAGT	0.706																																																	0													14	18	17					15																	41099875		2018	4163	6181	SO:0001583	missense	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.88G>T	15.37:g.41099875G>T	ENSP00000347498:p.Gly30Cys		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.G30C	ENST00000355341.4	37	c.88	CCDS42025.1	15	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144696	0.37825	.	.	ENSG00000166140	ENST00000355341;ENST00000299173	T;T	0.40476	1.07;1.03	5.01	-10.0	0.00425	.	1.710450	0.03379	N	0.200113	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B;B	0.17667	0.023;0.003	B;B	0.15870	0.014;0.003	T	0.26360	-1.0105	10	0.66056	D	0.02	.	2.4352	0.04481	0.446:0.2936:0.0962:0.1642	.	30;30	Q96K21-3;Q96K21	.;ZFY19_HUMAN	C	30	ENSP00000347498:G30C;ENSP00000299173:G30C	ENSP00000299173:G30C	G	+	1	0	ZFYVE19	38887167	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.340000	0.00506	-3.047000	0.00261	-1.109000	0.02080	GGC	ZFYVE19	-	NULL		0.706	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	HGNC	protein_coding	OTTHUMT00000418996.1	G	NM_032850		41099875	1	no_errors	ENST00000355341	ensembl	human	known	70_37	missense	SNP	0.000	T	T	41099875	G	T	41099875	3	4	181	1	0	0	0	0	1	0	0	0	17695	1116	39	2	90	2	ZFYVE19	15	41099875	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	15146697	41099875	61431517	42	33880										
PML	5371	genome.wustl.edu	37	chr15	74287202	74287202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ggccccagcaggaccccgccCggccccaggagcccaccatg	12	21	0	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr15:74287202C>T	ENST00000268058.3	+	1	145	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	PML_ENST00000268059.6_Missense_Mutation_p.R17W|STOML1_ENST00000316900.5_5'Flank|PML_ENST00000354026.6_Missense_Mutation_p.R17W|PML_ENST00000565898.1_Missense_Mutation_p.R17W|PML_ENST00000436891.3_Missense_Mutation_p.R17W|PML_ENST00000567543.1_Missense_Mutation_p.R17W|STOML1_ENST00000316911.6_5'Flank|PML_ENST00000569965.1_Missense_Mutation_p.R17W|STOML1_ENST00000564777.1_5'Flank|PML_ENST00000395132.2_Missense_Mutation_p.R17W|PML_ENST00000563500.1_Missense_Mutation_p.R17W|PML_ENST00000359928.4_Missense_Mutation_p.R17W|PML_ENST00000564428.1_Missense_Mutation_p.R17W|PML_ENST00000569477.1_Missense_Mutation_p.R17W|PML_ENST00000435786.2_Missense_Mutation_p.R17W|STOML1_ENST00000541638.1_5'Flank|STOML1_ENST00000561656.1_5'Flank|PML_ENST00000395135.3_Missense_Mutation_p.R17W|STOML1_ENST00000359750.4_5'Flank	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	17	Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGACCCCGCCCGGCCCCAGGA	0.657			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													4	5	5					15																	74287202		2058	4060	6118	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.49C>T	15.37:g.74287202C>T	ENSP00000268058:p.Arg17Trp		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R17W	ENST00000268058.3	37	c.49	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902012	0.52227	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.44482	0.92	4.16	2.17	0.27698	.	2.625390	0.01380	N	0.012886	T	0.33702	0.0872	N	0.08118	0	0.09310	N	1	D;D;D;D;D;D;D;D;P;D;D	0.71674	0.992;0.995;0.995;0.997;0.979;0.998;0.997;0.99;0.741;0.991;0.989	B;P;P;P;B;P;P;P;B;P;B	0.49953	0.332;0.533;0.533;0.533;0.252;0.533;0.627;0.627;0.017;0.533;0.332	T	0.30001	-0.9993	10	0.59425	D	0.04	-0.9568	5.8746	0.18822	0.0:0.7461:0.0:0.2539	.	17;17;17;17;17;17;17;17;17;17;20	P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	PML_HUMAN;.;.;.;.;.;.;.;.;.;.	W	17	ENSP00000268058:R17W	ENSP00000268058:R17W	R	+	1	2	PML	72074255	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.507000	0.22675	0.640000	0.30582	-0.345000	0.07892	CGG	PML	-	NULL		0.657	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	C	NM_002675		74287202	1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	0.000	T	T	74287202	C	T	74287202	3	4	181	1	0	0	0	0	1	0	0	0	12159	643	23	2	51	2	PML	15	74287202	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	33187327	74287202	28244190	43	33881										
PKD1	5310	genome.wustl.edu	37	chr16	2150481	2150481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gaagatgtccaggctgttgcGgtggaaggctctgtcgccgt	16	9	1	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr16:2150481G>A	ENST00000262304.4	-	27	9692	c.9484C>T	c.(9484-9486)Cgc>Tgc	p.R3162C	PKD1_ENST00000423118.1_Missense_Mutation_p.R3162C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3162	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGCTGTTGCGGTGGAAGGCT	0.647																																																	0													53	50	51					16																	2150481		2195	4293	6488	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9484C>T	16.37:g.2150481G>A	ENSP00000262304:p.Arg3162Cys		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.R3162C	ENST00000262304.4	37	c.9484	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415992	0.83449	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.75050	-0.9;-0.9	4.73	4.73	0.59995	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93023	0.6442	10	0.87932	D	0	.	12.9383	0.58327	0.0:0.0:0.838:0.162	.	3162;3162	P98161-3;P98161	.;PKD1_HUMAN	C	3162;3162;2497	ENSP00000262304:R3162C;ENSP00000399501:R3162C	ENSP00000262304:R3162C	R	-	1	0	PKD1	2090482	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.945000	0.70226	2.443000	0.82685	0.555000	0.69702	CGC	PKD1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2150481	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2150481	G	A	2150481	3	1	181	1	0	0	0	0	1	0	0	0	11987	1116	39	2	3507	2	PKD1	16	2150481	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09		2150481	88204272	44	33882										
ABCA3	21	genome.wustl.edu	37	chr16	2339537	2339537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ttgctgtccacagcccagtcGctggcgcgcctctcgtgctg	12	16	1	0	rs369127242	byFrequency	TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr16:2339537G>A	ENST00000301732.5	-	20	3298	c.2598C>T	c.(2596-2598)agC>agT	p.S866S	ABCA3_ENST00000382381.3_Silent_p.S808S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	866					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGCCCAGTCGCTGGCGCGCC	0.642													G|||	2	0.000399361	0.0015	0	5008	,	,		16815	0		0	False		,,,				2504	0																0								G		3,4385		0,3,2191	32	26	28		2598	-5.5	0.5	16		28	0,8586		0,0,4293	no	coding-synonymous	ABCA3	NM_001089.2		0,3,6484	AA,AG,GG		0.0,0.0684,0.0231		866/1705	2339537	3,12971	2194	4293	6487	SO:0001819	synonymous_variant	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2598C>T	16.37:g.2339537G>A			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S866	ENST00000301732.5	37	c.2598	CCDS10466.1	16																																																																																			ABCA3	-	NULL		0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	G	NM_001089		2339537	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	silent	SNP	0.410	A	A	2339537	G	A	2339537	2	1	181	1	0	0	0	0	0	0	0	1	33	1078	38	2		2	ABCA3	16	2339537	Silent	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	189056	2339537	88015216	45	33883										
SPNS1	83985	genome.wustl.edu	37	chr16	28995555	28995555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	acgaagcagggtccacagacGaccggattgtggtgccccag	14	12	0	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr16:28995555G>A	ENST00000311008.11	+	12	1899	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	LAT_ENST00000354453.4_5'Flank|LAT_ENST00000566177.1_5'Flank|SPNS1_ENST00000323081.8_Missense_Mutation_p.D435N|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Missense_Mutation_p.D456N|LAT_ENST00000454369.2_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Missense_Mutation_p.D434N|LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000565975.1_Missense_Mutation_p.D553N	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	508					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCCACAGACGACCGGATTGT	0.652																																																	0													35	37	36					16																	28995555		2197	4300	6497	SO:0001583	missense	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1522G>A	16.37:g.28995555G>A	ENSP00000309945:p.Asp508Asn		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D508N	ENST00000311008.11	37	c.1522	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453596	0.63290	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.33865	1.84;1.39;1.39;1.86	4.45	4.45	0.53987	.	0.201389	0.41823	D	0.000808	T	0.31827	0.0809	N	0.22421	0.69	0.42059	D	0.991155	B;B;D	0.56287	0.231;0.041;0.975	B;B;P	0.47891	0.01;0.004;0.56	T	0.07927	-1.0747	10	0.40728	T	0.16	.	14.6389	0.68708	0.0:0.0:1.0:0.0	.	434;508;456	Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;SPNS1_HUMAN;.	N	508;456;434;435	ENSP00000309945:D508N;ENSP00000335494:D456N;ENSP00000306050:D434N;ENSP00000318228:D435N	ENSP00000309945:D508N	D	+	1	0	SPNS1	28903056	1.000000	0.71417	0.896000	0.35187	0.060000	0.15804	6.616000	0.74205	2.311000	0.77944	0.655000	0.94253	GAC	SPNS1	-	NULL		0.652	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	G	NM_032038		28995555	1	no_errors	ENST00000311008	ensembl	human	known	70_37	missense	SNP	0.995	A	A	28995555	G	A	28995555	3	1	181	1	0	0	0	0	1	0	0	0	15104	1058	37	1	1568	1	SPNS1	16	28995555	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	26656018	28995555	61359198	46	33884										
SGSM2	9905	genome.wustl.edu	37	chr17	2276743	2276743	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	cacacgcaccaagttctcctCaggcagcagcatcgacagcc	8	17	2	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:2276743C>T	ENST00000426855.2	+	16	2076	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L	SGSM2_ENST00000574563.1_Missense_Mutation_p.S634L|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.S679L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	634	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AAGTTCTCCTCAGGCAGCAGC	0.652																																																	0													85	69	74					17																	2276743		2203	4300	6503	SO:0001583	missense	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1901C>T	17.37:g.2276743C>T	ENSP00000415107:p.Ser634Leu		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.S679L	ENST00000426855.2	37	c.2036	CCDS45570.1	17	.	.	.	.	.	.	.	.	.	.	c	36	5.637196	0.96693	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.15952	2.38;2.41	5.8	5.8	0.92144	Rab-GAP/TBC domain (3);	0.120977	0.64402	D	0.000015	T	0.44993	0.1320	M	0.81682	2.555	0.80722	D	1	P;D;P	0.67145	0.945;0.996;0.922	P;P;P	0.62740	0.713;0.906;0.511	T	0.41342	-0.9514	10	0.87932	D	0	-9.5365	19.0443	0.93013	0.0:1.0:0.0:0.0	.	634;634;679	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	L	679;634	ENSP00000268989:S679L;ENSP00000415107:S634L	ENSP00000268989:S679L	S	+	2	0	SGSM2	2223493	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	7.441000	0.80485	2.750000	0.94351	0.556000	0.70494	TCA	SGSM2	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.652	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	C	NM_014853		2276743	1	no_errors	ENST00000268989	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2276743	C	T	2276743	3	4	181	1	0	0	0	0	1	0	0	0	14253	838	29	1	2102	1	SGSM2	17	2276743	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09		2276743	78918467	47	33885										
MYH13	8735	genome.wustl.edu	37	chr17	10225018	10225018	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ctgtcatttcttcggaaagaTtctttacctgggacaatatt	7	8	3	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:10225018T>G	ENST00000418404.3	-	23	3105	c.2942A>C	c.(2941-2943)aAt>aCt	p.N981T	MYH13_ENST00000252172.4_Missense_Mutation_p.N981T|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	981					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCGGAAAGATTCTTTACCTG	0.368																																																	0													118	101	106					17																	10225018		1826	4084	5910	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2942A>C	17.37:g.10225018T>G	ENSP00000404570:p.Asn981Thr		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N981T	ENST00000418404.3	37	c.2942	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795643	0.70452	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.82711	-1.64	4.16	4.16	0.48862	.	.	.	.	.	D	0.85831	0.5788	M	0.72118	2.19	0.43593	D	0.995947	B;P	0.40875	0.185;0.731	B;P	0.48770	0.109;0.589	D	0.85719	0.1324	9	0.40728	T	0.16	.	13.6559	0.62338	0.0:0.0:0.0:1.0	.	607;981	B4DFX9;Q9UKX3	.;MYH13_HUMAN	T	981;607	ENSP00000252172:N981T	ENSP00000252172:N981T	N	-	2	0	MYH13	10165743	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	7.692000	0.84203	1.872000	0.54250	0.459000	0.35465	AAT	MYH13	-	NULL		0.368	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	T	NM_003802		10225018	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10225018	T	G	10225018	3	3	181	1	0	0	0	0	1	0	0	0	10055	1493	52	5	2946	5	MYH13	17	10225018	Missense_Mutation	SNP	T	TCGA-Q1-A5R3-01A-11D-A28B-09	7948275	10225018	70970192	48	33886										
PIRT	644139	genome.wustl.edu	37	chr17	10728889	10728889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	acagggagctggcggtctggCtgggcagcaggtccttggct	18	10	1	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:10728889C>A	ENST00000580256.2	-	2	712	c.74G>T	c.(73-75)aGc>aTc	p.S25I		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	25						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GGCGGTCTGGCTGGGCAGCAG	0.592																																																	0													26	27	26					17																	10728889		1958	4143	6101	SO:0001583	missense	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"phosphoinositide-interacting regulator of TRPV1"	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.74G>T	17.37:g.10728889C>A	ENSP00000462046:p.Ser25Ile		B7Z648	Missense_Mutation	SNP	NULL	p.S25I	ENST00000580256.2	37	c.74	CCDS45614.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601598	0.87055	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.66982	0.2845	L	0.29908	0.895	0.52501	D	0.999951	D	0.89917	1.0	D	0.87578	0.998	T	0.69254	-0.5193	8	0.87932	D	0	-15.3573	16.8609	0.86018	0.0:1.0:0.0:0.0	.	25	P0C851	PIRT_HUMAN	I	25	.	ENSP00000408936:S25I	S	-	2	0	PIRT	10669614	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.935000	0.70145	2.840000	0.97914	0.655000	0.94253	AGC	PIRT	-	NULL		0.592	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIRT	HGNC	protein_coding	OTTHUMT00000441078.2	C	NM_001101387		10728889	-1	no_errors	ENST00000580256	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10728889	C	A	10728889	3	1	181	1	0	0	0	0	1	0	0	0	11969	797	28	4	343	4	PIRT	17	10728889	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	503871	10728889	70466321	49	33887										
TOM1L2	146691	genome.wustl.edu	37	chr17	17801972	17801972	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gagccgcttcttcagggctcGaatggcatcctttggcctgg	13	12	2	0	rs139022042	byFrequency	TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:17801972G>A	ENST00000379504.3	-	3	237	c.154C>T	c.(154-156)Cga>Tga	p.R52*	TOM1L2_ENST00000581396.1_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000540946.1_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000542206.1_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000318094.10_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000395739.4_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000535933.1_Nonsense_Mutation_p.R52*	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	52	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TTCAGGGCTCGAATGGCATCC	0.458																																					Melanoma(192;2505 2909 14455 25269)												0													129	103	112					17																	17801972		2203	4300	6503	SO:0001587	stop_gained	146691			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.154C>T	17.37:g.17801972G>A	ENSP00000368818:p.Arg52*		B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Nonsense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.R52*	ENST00000379504.3	37	c.154	CCDS42270.1	17	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607872	0.87258	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206;ENST00000537091	.	.	.	5.21	5.21	0.72293	.	0.120696	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.5526	13.8658	0.63588	0.0:0.0:0.8476:0.1524	.	.	.	.	X	52	.	ENSP00000312860:R52X	R	-	1	2	TOM1L2	17742697	1.000000	0.71417	0.956000	0.39512	0.995000	0.86356	3.023000	0.49666	2.723000	0.93209	0.655000	0.94253	CGA	TOM1L2	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS		0.458	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1	G			17801972	-1	no_errors	ENST00000379504	ensembl	human	known	70_37	nonsense	SNP	0.642	A	A	17801972	G	A	17801972	4	1	181	1	0	0	0	0	0	1	0	0	16383	1066	37	1	1421	1	TOM1L2	17	17801972	Nonsense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	7073083	17801972	63393238	50	33888										
SGK494	9703	genome.wustl.edu	37	chr17	26940567	26940567	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gcttctctaccagtactgggGctggctttagggattcctgg	13	10	1	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:26940567G>A	ENST00000528896.2	-	0	7407				SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.A72V|RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.A71V|SGK494_ENST00000301037.5_Missense_Mutation_p.A72V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGTACTGGGGCTGGCTTTAG	0.547											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													74	81	79					17																	26940567		2203	4300	6503	SO:0001628	intergenic_variant	124923			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940567G>A		790	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A72V	ENST00000528896.2	37	c.215	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162199	0.21538	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T	0.68624	-0.34;1.43	4.59	3.61	0.41365	.	0.065649	0.64402	D	0.000019	T	0.45975	0.1369	N	0.17082	0.46	0.25569	N	0.986914	B;B	0.20550	0.046;0.024	B;B	0.21360	0.034;0.008	T	0.21314	-1.0249	10	0.22109	T	0.4	-7.816	9.5743	0.39447	0.1006:0.0:0.8994:0.0	.	72;72	E9PMD0;Q96LW2	.;SG494_HUMAN	V	72	ENSP00000301037:A72V;ENSP00000434603:A72V	ENSP00000301037:A72V	A	-	2	0	AC005726.6;RP11-192H23.4	23964694	0.942000	0.31987	0.964000	0.40570	0.440000	0.31957	1.375000	0.34295	2.278000	0.76064	0.655000	0.94253	GCC	SGK494	-	NULL		0.547	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK494	Uniprot_genename	protein_coding	OTTHUMT00000390571.3	G	NM_014680		26940567	-1	no_errors	ENST00000301037	ensembl	human	known	70_37	missense	SNP	0.735	A	A	26940567	G	A	26940567	1	1	181	0	1	0	0	0	0	0	0	0	14243	1203	42	4		4	SGK494	17	26940567	IGR	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	9138595	26940567	54254643	51	33889										
NF1	4763	genome.wustl.edu	37	chr17	29585383	29585383	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	tggttagccagcgtttccctCagaacagcatcggtgcagta	11	11	1	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:29585383C>T	ENST00000358273.4	+	32	4578	c.4195C>T	c.(4195-4197)Cag>Tag	p.Q1399*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1378*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1399	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCGTTTCCCTCAGAACAGCAT	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)											124	113	117					17																	29585383		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4195C>T	17.37:g.29585383C>T	ENSP00000351015:p.Gln1399*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.Q1399*	ENST00000358273.4	37	c.4195	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.798641	0.99697	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.3791	0.90444	0.0:1.0:0.0:0.0	.	.	.	.	X	1399;1378;1044	.	ENSP00000348498:Q1378X	Q	+	1	0	NF1	26609509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.781000	0.95711	0.650000	0.86243	CAG	NF1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29585383	1	no_errors	ENST00000358273	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	29585383	C	T	29585383	4	4	181	1	0	0	0	0	0	1	0	0	10380	827	29	1	4382	1	NF1	17	29585383	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	2644816	29585383	51609827	52	33890										
RDM1	201299	genome.wustl.edu	37	chr17	34251737	34251737	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	cggaagtggcaccatgctatCttcattttccctttcttcaa	6	12	4	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:34251737C>G	ENST00000293273.6	-	4	484	c.439G>C	c.(439-441)Gat>Cat	p.D147H	RDM1_ENST00000394527.1_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394529.3_Missense_Mutation_p.D124H|RDM1_ENST00000430160.2_Missense_Mutation_p.D124H|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394528.3_Missense_Mutation_p.D147H|RDM1_ENST00000431884.2_Missense_Mutation_p.D147H|RDM1_ENST00000419453.2_Missense_Mutation_p.D124H	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	147					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCATGCTATCTTCATTTTCC	0.443								Other identified genes with known or suspected DNA repair function																																									0													89	83	85					17																	34251737		2203	4300	6503	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.439G>C	17.37:g.34251737C>G	ENSP00000293273:p.Asp147His		A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom	p.D147H	ENST00000293273.6	37	c.439	CCDS11301.1	17	.	.	.	.	.	.	.	.	.	.	C	6.886	0.533014	0.13188	.	.	ENSG00000187456	ENST00000293273;ENST00000419453;ENST00000394529;ENST00000431884;ENST00000430160;ENST00000394528	T;T;T;T;T	0.31769	1.49;1.49;1.48;1.48;1.49	3.07	1.04	0.20106	.	0.819224	0.10484	N	0.669176	T	0.34048	0.0884	L	0.51422	1.61	0.09310	N	0.999998	P;P;P;P;P;P	0.48503	0.832;0.846;0.911;0.873;0.884;0.799	P;B;P;P;P;P	0.49799	0.621;0.386;0.584;0.521;0.622;0.487	T	0.17258	-1.0375	10	0.56958	D	0.05	-1.5465	6.8168	0.23835	0.0:0.7417:0.0:0.2583	.	124;147;124;147;147;124	B4DZ74;Q8NG50-5;Q8NG50-2;A8MY68;Q8NG50;Q8NG50-6	.;.;.;.;RDM1_HUMAN;.	H	147;26;124;147;124;147	ENSP00000293273:D147H;ENSP00000378037:D124H;ENSP00000391290:D147H;ENSP00000413421:D124H;ENSP00000378036:D147H	ENSP00000293273:D147H	D	-	1	0	RDM1	31275850	0.114000	0.22134	0.565000	0.28409	0.047000	0.14425	0.551000	0.23361	0.628000	0.30357	0.585000	0.79938	GAT	RDM1	-	pfam_Rad52_Rad22		0.443	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDM1	HGNC	protein_coding	OTTHUMT00000256588.2	C	NM_145654		34251737	-1	no_errors	ENST00000293273	ensembl	human	known	70_37	missense	SNP	0.198	G	G	34251737	C	G	34251737	3	3	181	1	0	0	0	0	1	0	0	0	13227	913	32	1	475	1	RDM1	17	34251737	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	4666354	34251737	46943473	53	33891										
MED1	5469	genome.wustl.edu	37	chr17	37588194	37588194	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ttaaggttttagcagtcttaCcagtacataattgccatttt	6	7	1	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:37588194C>T	ENST00000394287.3	-	8	781		c.e8+1		MED1_ENST00000300651.6_Splice_Site			O95243	MBD4_HUMAN	mediator complex subunit 1						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGCAGTCTTACCAGTACATAA	0.358										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													108	106	107					17																	37588194		2203	4300	6503	SO:0001630	splice_region_variant	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.575+1G>A	17.37:g.37588194C>T			B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Splice_Site	SNP	-	e8+1	ENST00000394287.3	37	c.575+1		17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244488	0.79912	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7345	0.91749	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED1	34841720	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.540000	0.73861	2.487000	0.83934	0.655000	0.94253	.	MED1	-	-		0.358	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	C	NM_004774	Intron	37588194	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	37588194	C	T	37588194	5	4	181	1	0	0	0	0	0	0	1	0	9448	521	18	4	4209	4	MED1	17	37588194	Splice_Site	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	3336457	37588194	43607016	54	33892										
AMZ2	51321	genome.wustl.edu	37	chr17	66250580	66250580	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gctttgccaggtatggcagtGatttttatagcatgcactat	10	7	0	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:66250580G>C	ENST00000359904.3	+	5	1754	c.622G>C	c.(622-624)Gat>Cat	p.D208H	AMZ2_ENST00000577866.1_Missense_Mutation_p.D208H|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000580753.1_Missense_Mutation_p.D208H|AMZ2_ENST00000359783.4_Missense_Mutation_p.D150H|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000577985.1_Missense_Mutation_p.D208H|AMZ2_ENST00000392720.2_Missense_Mutation_p.D208H	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	208							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTATGGCAGTGATTTTTATAG	0.368																																																	0													105	95	98					17																	66250580		2203	4300	6503	SO:0001583	missense	51321			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"archaemetzincin-2"	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.622G>C	17.37:g.66250580G>C	ENSP00000352976:p.Asp208His		A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	pfam_Pept_M54_archaemetzincn	p.D208H	ENST00000359904.3	37	c.622	CCDS11674.1	17	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654495	0.29425	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.68025	-0.3;-0.3;-0.3	5.12	4.15	0.48705	.	0.242407	0.29383	N	0.012303	T	0.65059	0.2655	M	0.74881	2.28	0.40259	D	0.978157	B;B	0.22541	0.017;0.071	B;B	0.26202	0.037;0.067	T	0.67348	-0.5693	10	0.72032	D	0.01	-14.7047	8.4637	0.32942	0.179:0.0:0.821:0.0	.	150;208	A6NLD9;Q86W34	.;AMZ2_HUMAN	H	208;150;208	ENSP00000352976:D208H;ENSP00000352831:D150H;ENSP00000376481:D208H	ENSP00000352831:D150H	D	+	1	0	AMZ2	63762175	1.000000	0.71417	0.970000	0.41538	0.928000	0.56348	2.035000	0.41155	1.492000	0.48499	0.632000	0.83419	GAT	AMZ2	-	NULL		0.368	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ2	HGNC	protein_coding	OTTHUMT00000448261.1	G	NM_016627		66250580	1	no_errors	ENST00000359904	ensembl	human	known	70_37	missense	SNP	0.998	C	C	66250580	G	C	66250580	3	2	181	1	0	0	0	0	1	0	0	0	597	1290	45	1	636	1	AMZ2	17	66250580	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	28662386	66250580	14944630	55	33893										
SLC16A3	9123	genome.wustl.edu	37	chr17	80195676	80195676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ccctgcagttcgaggtgctcAtggccatcgtgggcacccac	12	15	1	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:80195676A>G	ENST00000581287.1	+	3	3352	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	SLC16A3_ENST00000392339.1_Missense_Mutation_p.M344V|SLC16A3_ENST00000392341.1_Missense_Mutation_p.M344V|SLC16A3_ENST00000582743.1_Missense_Mutation_p.M344V	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	344					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	CGAGGTGCTCATGGCCATCGT	0.662																																					Pancreas(52;652 1135 19190 37282 52456)												0													41	31	35					17																	80195676		2197	4296	6493	SO:0001583	missense	9123			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.1030A>G	17.37:g.80195676A>G	ENSP00000463978:p.Met344Val		B3KXG8|Q2M1P8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.M344V	ENST00000581287.1	37	c.1030	CCDS11804.1	17	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768453	0.90020	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.22134	1.97;1.97	5.95	5.95	0.96441	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	L	0.60845	1.875	0.80722	D	1	B;D	0.61697	0.137;0.99	B;D	0.83275	0.246;0.996	T	0.10337	-1.0634	10	0.20046	T	0.44	.	15.5912	0.76530	1.0:0.0:0.0:0.0	.	344;344	Q53G91;O15427	.;MOT4_HUMAN	V	344	ENSP00000376152:M344V;ENSP00000376150:M344V	ENSP00000376150:M344V	M	+	1	0	SLC16A3	77788965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.262000	0.95591	2.280000	0.76307	0.460000	0.39030	ATG	SLC16A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.662	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A3	HGNC	protein_coding	OTTHUMT00000443498.1	A	NM_004207		80195676	1	no_errors	ENST00000392339	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80195676	A	G	80195676	3	3	181	1	0	0	0	0	1	0	0	0	14439	217	8	5	1040	5	SLC16A3	17	80195676	Missense_Mutation	SNP	A	TCGA-Q1-A5R3-01A-11D-A28B-09	13945096	80195676	999534	56	33894										
ZNF521	25925	genome.wustl.edu	37	chr18	22805217	22805217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gtaggctgccccacaaatgtCgcagccgtacataggctcag	11	13	1	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr18:22805217C>A	ENST00000361524.3	-	4	2813	c.2665G>T	c.(2665-2667)Gac>Tac	p.D889Y	ZNF521_ENST00000584787.1_Missense_Mutation_p.D669Y|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.D889Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	889					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCACAAATGTCGCAGCCGTAC	0.522			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													119	111	114					18																	22805217		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2665G>T	18.37:g.22805217C>A	ENSP00000354794:p.Asp889Tyr		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D889Y	ENST00000361524.3	37	c.2665	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638490	0.29157	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.31247	1.5;1.5	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.80982	2.52	0.52099	D	0.999944	D	0.89917	1.0	D	0.87578	0.998	T	0.63642	-0.6591	10	0.72032	D	0.01	-40.4607	20.1184	0.97949	0.0:1.0:0.0:0.0	.	889	Q96K83	ZN521_HUMAN	Y	889;923;889	ENSP00000354794:D889Y;ENSP00000382352:D889Y	ENSP00000354794:D889Y	D	-	1	0	ZNF521	21059215	1.000000	0.71417	0.966000	0.40874	0.857000	0.48899	7.487000	0.81328	2.769000	0.95229	0.655000	0.94253	GAC	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	C	NM_015461		22805217	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22805217	C	A	22805217	3	1	181	1	0	0	0	0	1	0	0	0	17995	884	31	3	1290	3	ZNF521	18	22805217	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09		22805217	55272031	57	33895										
SMAD4	4089	genome.wustl.edu	37	chr18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ggacccttctggaggagatcGcttttgtttgggtcaactct	12	9	3	1	rs377767347		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413																																																	50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	GRCh37	CM004254	SMAD4	M							167	138	148					18																	48591919		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R361H	ENST00000342988.3	37	c.1082	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	G	NM_005359		48591919	1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	A	A	48591919	G	A	48591919	3	1	181	1	0	0	0	0	1	0	0	0	14790	1087	38	2	1112	2	SMAD4	18	48591919	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	25786702	48591919	29485329	58	33896										
WDR7	23335	genome.wustl.edu	37	chr18	54606544	54606544	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	tgttcttttctgtcaaaggtTatggacatcattatgtactg	8	6	4	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr18:54606544T>A	ENST00000254442.3	+	25	4195	c.3984T>A	c.(3982-3984)gtT>gtA	p.V1328V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.V1295V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1328					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGTCAAAGGTTATGGACATCA	0.328																																																	0													50	52	51					18																	54606544		2203	4296	6499	SO:0001819	synonymous_variant	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3984T>A	18.37:g.54606544T>A			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1328	ENST00000254442.3	37	c.3984	CCDS11962.1	18																																																																																			WDR7	-	superfamily_ARM-type_fold		0.328	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	T			54606544	1	no_errors	ENST00000254442	ensembl	human	known	70_37	silent	SNP	0.956	A	A	54606544	T	A	54606544	2	1	181	1	0	0	0	0	0	0	0	1	17351	1741	61	5		5	WDR7	18	54606544	Silent	SNP	T	TCGA-Q1-A5R3-01A-11D-A28B-09	6014625	54606544	23470704	59	33897										
NFIC	4782	genome.wustl.edu	37	chr19	3434392	3434392	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	aacgctgcccagcacctcctCcagtgggtaagtacccaggt	10	15	0	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:3434392C>G	ENST00000443272.2	+	5	878	c.827C>G	c.(826-828)tCc>tGc	p.S276C	NFIC_ENST00000346156.5_Missense_Mutation_p.S243C|NFIC_ENST00000341919.3_Missense_Mutation_p.S276C|NFIC_ENST00000395111.3_Missense_Mutation_p.S267C|NFIC_ENST00000586919.1_Missense_Mutation_p.S243C|NFIC_ENST00000590282.1_Missense_Mutation_p.S276C|NFIC_ENST00000589123.1_Missense_Mutation_p.S267C	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	276					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGCACCTCCTCCAGTGGGTAA	0.607																																																	0													82	74	77					19																	3434392		2203	4300	6503	SO:0001583	missense	4782			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.827C>G	19.37:g.3434392C>G	ENSP00000396843:p.Ser276Cys		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.S276C	ENST00000443272.2	37	c.827	CCDS59330.1	19	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000461	0.35320	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.54866	0.55;0.55;0.55	3.48	2.44	0.29823	.	0.426926	0.25405	N	0.030907	T	0.49012	0.1532	M	0.71036	2.16	0.39217	D	0.963431	B;B;B;B;B	0.18461	0.028;0.028;0.004;0.023;0.01	B;B;B;B;B	0.21917	0.018;0.037;0.006;0.016;0.006	T	0.47114	-0.9142	10	0.34782	T	0.22	.	9.4743	0.38862	0.0:0.892:0.0:0.108	.	276;276;267;276;267	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	C	267;267;243;276;276;276	ENSP00000378543:S267C;ENSP00000301935:S243C;ENSP00000342194:S276C	ENSP00000269778:S276C	S	+	2	0	NFIC	3385392	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	4.886000	0.63149	0.673000	0.31224	0.462000	0.41574	TCC	NFIC	-	pfam_CTF/NFI		0.607	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIC	HGNC	protein_coding	OTTHUMT00000452834.1	C	NM_005597		3434392	1	no_errors	ENST00000443272	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3434392	C	G	3434392	3	3	181	1	0	0	0	0	1	0	0	0	10396	855	30	1	852	1	NFIC	19	3434392	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09		3434392	55694591	60	33898										
CPAMD8	27151	genome.wustl.edu	37	chr19	17013537	17013537	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	catcatcgtcagctgggggcCagtctcctcgggaaccctca	11	15	4	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:17013537C>T	ENST00000443236.1	-	35	4779	c.4748G>A	c.(4747-4749)tGg>tAg	p.W1583*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1536						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCTGGGGGCCAGTCTCCTCG	0.652																																																	0													32	38	36					19																	17013537		2007	4173	6180	SO:0001587	stop_gained	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4748G>A	19.37:g.17013537C>T	ENSP00000402505:p.Trp1583*		Q8NC09|Q9ULD7	Nonsense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.W1583*	ENST00000443236.1	37	c.4748	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.755369|7.755369	0.98471|0.98471	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	1.77|1.77	-2.76|-2.76	0.05896|0.05896	.|.	.|0.126930	.|0.28338	.|U	.|0.015708	T|.	0.50343|.	0.1610|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40194|.	-0.9576|.	4|.	.|0.36615	.|T	.|0.2	.|.	5.4086|5.4086	0.16336|0.16336	0.1926:0.6777:0.0:0.1297|0.1926:0.6777:0.0:0.1297	.|.	.|.	.|.	.|.	S|X	1594|1583	.|.	.|ENSP00000291440:W1583X	G|W	-|-	1|2	0|0	CPAMD8|CPAMD8	16874537|16874537	0.990000|0.990000	0.36364|0.36364	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	3.757000|3.757000	0.55212|0.55212	-0.182000|-0.182000	0.10602|0.10602	0.485000|0.485000	0.47835|0.47835	GGC|TGG	CPAMD8	-	superfamily_A-macroglobulin_rcpt-bd		0.652	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	C	NM_015692		17013537	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	nonsense	SNP	0.498	T	T	17013537	C	T	17013537	4	4	181	1	0	0	0	0	0	1	0	0	3800	595	21	4	1082	4	CPAMD8	19	17013537	Nonsense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	13579145	17013537	42115446	61	33899										
MEGF8	1954	genome.wustl.edu	37	chr19	42866575	42866575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	agtggtgtaccaactgccccGaaggtgcttgcattggacgc	13	11	0	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:42866575G>A	ENST00000251268.6	+	34	5884	c.5884G>A	c.(5884-5886)Gaa>Aaa	p.E1962K	MEGF8_ENST00000334370.4_Missense_Mutation_p.E1895K	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1962	PSI 5.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAACTGCCCCGAAGGTGCTTG	0.607																																																	0													123	106	112					19																	42866575		2203	4300	6503	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5884G>A	19.37:g.42866575G>A	ENSP00000251268:p.Glu1962Lys		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.E1962K	ENST00000251268.6	37	c.5884		19	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459335	0.84317	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.05;2.05	5.2	5.2	0.72013	.	0.151465	0.41938	D	0.000782	T	0.30262	0.0759	L	0.29908	0.895	0.80722	D	1	P;D	0.89917	0.826;1.0	B;D	0.63957	0.154;0.92	T	0.02424	-1.1161	10	0.10636	T	0.68	-10.0857	17.4936	0.87711	0.0:0.0:1.0:0.0	.	1962;1895	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	K	1895;1962	ENSP00000334219:E1895K;ENSP00000251268:E1962K	ENSP00000251268:E1962K	E	+	1	0	MEGF8	47558415	1.000000	0.71417	0.988000	0.46212	0.797000	0.45037	9.130000	0.94437	2.442000	0.82660	0.462000	0.41574	GAA	MEGF8	-	smart_Plexin-like		0.607	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	G	NM_001410		42866575	1	no_errors	ENST00000251268	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42866575	G	A	42866575	3	1	181	1	0	0	0	0	1	0	0	0	9486	1059	37	1	5813	1	MEGF8	19	42866575	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	25853038	42866575	16262408	62	33900										
KLC3	147700	genome.wustl.edu	37	chr19	45854574	45854574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	ggcacctggacaaggcccctCggaccctcagcgccagcacc	11	19	1	0	rs200617999		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:45854574C>T	ENST00000391946.2	+	13	1576	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Missense_Mutation_p.R491W|KLC3_ENST00000470402.1_Missense_Mutation_p.R506W	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	492					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CAAGGCCCCTCGGACCCTCAG	0.642													C|||	1	0.000199681	0	0	5008	,	,		16358	0.001		0	False		,,,				2504	0																0								C	TRP/ARG	1,4023		0,1,2011	88	103	98		1474	2.4	0.5	19		98	2,8330		0,2,4164	yes	missense	KLC3	NM_177417.2	101	0,3,6175	TT,TC,CC		0.024,0.0249,0.0243	probably-damaging	492/505	45854574	3,12353	2012	4166	6178	SO:0001583	missense	147700			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1474C>T	19.37:g.45854574C>T	ENSP00000375810:p.Arg492Trp		A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.R506W	ENST00000391946.2	37	c.1516	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110747	0.37242	2.49E-4	2.4E-4	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.88046	-2.29;-2.33	3.48	2.39	0.29439	.	0.000000	0.53938	U	0.000053	D	0.89701	0.6791	L	0.52905	1.665	0.24126	N	0.995781	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.985	T	0.80603	-0.1309	10	0.87932	D	0	-15.173	7.943	0.29969	0.2452:0.7548:0.0:0.0	.	491;506;492	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	W	492;506	ENSP00000375810:R492W;ENSP00000436019:R506W	ENSP00000375810:R492W	R	+	1	2	KLC3	50546414	0.001000	0.12720	0.540000	0.28089	0.426000	0.31534	-0.834000	0.04391	0.773000	0.33404	0.462000	0.41574	CGG	KLC3	-	NULL		0.642	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	C	NM_145275		45854574	1	no_errors	ENST00000470402	ensembl	human	known	70_37	missense	SNP	0.353	T	T	45854574	C	T	45854574	3	4	181	1	0	0	0	0	1	0	0	0	8355	875	31	1	1520	1	KLC3	19	45854574	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	2987999	45854574	13274409	63	33901										
RSPH6A	81492	genome.wustl.edu	37	chr19	46305454	46305454	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	tctggcccctcatctgccttCtcttcctcctcccccaggtc	5	21	4	0			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:46305454C>G	ENST00000221538.3	-	4	1864	c.1722G>C	c.(1720-1722)gaG>gaC	p.E574D	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E310D|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E574D	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	574	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						catctgccttctcttcctcct	0.622																																																	0													111	73	86					19																	46305454		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1722G>C	19.37:g.46305454C>G	ENSP00000221538:p.Glu574Asp		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.E574D	ENST00000221538.3	37	c.1722	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748680	0.30955	.	.	ENSG00000104941	ENST00000221538	T	0.19806	2.12	4.27	2.08	0.27032	.	0.108659	0.64402	D	0.000011	T	0.15912	0.0383	L	0.48986	1.54	0.27895	N	0.939171	P	0.41978	0.767	B	0.38985	0.287	T	0.08827	-1.0703	10	0.26408	T	0.33	-9.2878	6.3085	0.21151	0.0:0.764:0.0:0.236	.	574	Q9H0K4	RSH6A_HUMAN	D	574	ENSP00000221538:E574D	ENSP00000221538:E574D	E	-	3	2	RSPH6A	50997294	0.980000	0.34600	1.000000	0.80357	0.407000	0.30961	0.054000	0.14205	0.710000	0.31997	-0.390000	0.06520	GAG	RSPH6A	-	pfam_Radial_spoke		0.622	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	C			46305454	-1	no_errors	ENST00000221538	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46305454	C	G	46305454	3	3	181	1	0	0	0	0	1	0	0	0	13737	912	32	1	443	1	RSPH6A	19	46305454	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	450880	46305454	12823529	64	33902										
NUP62	23636	genome.wustl.edu	37	chr19	50411685	50411685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gtgtcggcgggggccccggaCgtgttcaggtgctcgatgat	18	10	1	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:50411685C>T	ENST00000596217.1	-	2	3267	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	NUP62_ENST00000597723.1_Silent_p.T384T|NUP62_ENST00000597029.1_Silent_p.T460T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Silent_p.T460T|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000352066.3_Silent_p.T460T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Silent_p.T460T			P37198	NUP62_HUMAN	nucleoporin 62kDa	460					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGGCCCCGGACGTGTTCAGGT	0.582																																																	0													147	141	143					19																	50411685		2203	4300	6503	SO:0001819	synonymous_variant	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1380G>A	19.37:g.50411685C>T			B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	pfam_Nucleoporin_NSP1_C	p.T460	ENST00000596217.1	37	c.1380	CCDS12788.1	19																																																																																			NUP62	-	NULL		0.582	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	C	NM_153719		50411685	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	silent	SNP	0.002	T	T	50411685	C	T	50411685	2	4	181	1	0	0	0	0	0	0	0	1	10792	523	19	2		2	NUP62	19	50411685	Silent	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	4106231	50411685	8717298	65	33903										
EPS8L1	54869	genome.wustl.edu	37	chr19	55597237	55597237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	acttggagccagaatctgagCctcagctggagtcagagaca	12	10	3	3			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:55597237C>T	ENST00000201647.6	+	15	1470	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	EPS8L1_ENST00000245618.5_Missense_Mutation_p.P345S|EPS8L1_ENST00000588359.1_Missense_Mutation_p.P158S|EPS8L1_ENST00000586329.1_Missense_Mutation_p.P486S|EPS8L1_ENST00000540810.1_Missense_Mutation_p.P408S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	472					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGAATCTGAGCCTCAGCTGGA	0.582																																					Ovarian(149;255 1863 3636 27051 29647)												0													76	77	77					19																	55597237		2203	4300	6503	SO:0001583	missense	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1414C>T	19.37:g.55597237C>T	ENSP00000201647:p.Pro472Ser		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.P472S	ENST00000201647.6	37	c.1414	CCDS12914.1	19	.	.	.	.	.	.	.	.	.	.	C	9.629	1.135981	0.21123	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.31769	1.48;1.48;1.48	3.27	1.0	0.19881	Src homology-3 domain (1);	3.306760	0.00927	N	0.002668	T	0.21186	0.0510	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.21753	0.06;0.029;0.012;0.0	B;B;B;B	0.20955	0.032;0.015;0.01;0.001	T	0.13335	-1.0513	10	0.18276	T	0.48	-12.6758	5.788	0.18345	0.0:0.71:0.0:0.29	.	486;251;345;472	Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	S	486;472;408;345;158	ENSP00000201647:P472S;ENSP00000437541:P408S;ENSP00000245618:P345S	ENSP00000201647:P472S	P	+	1	0	EPS8L1	60289049	0.782000	0.28689	0.191000	0.23289	0.015000	0.08874	0.270000	0.18607	0.170000	0.19704	-0.234000	0.12200	CCT	EPS8L1	-	superfamily_SH3_domain		0.582	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	C	NM_017729		55597237	1	no_errors	ENST00000201647	ensembl	human	known	70_37	missense	SNP	0.285	T	T	55597237	C	T	55597237	3	4	181	1	0	0	0	0	1	0	0	0	5207	739	26	4	1520	4	EPS8L1	19	55597237	Missense_Mutation	SNP	C	TCGA-Q1-A5R3-01A-11D-A28B-09	5185552	55597237	3531746	66	33904										
AHCY	191	genome.wustl.edu	37	chr20	32880201	32880201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	tacttggtgtggatgaggttGgtgaggtcgcccccgtcgtc	16	9	0	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr20:32880201G>A	ENST00000217426.2	-	4	485	c.408C>T	c.(406-408)acC>acT	p.T136T	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000538132.1_Silent_p.T108T	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	136					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGATGAGGTTGGTGAGGTCGC	0.632																																																	0													86	66	73					20																	32880201		2203	4300	6503	SO:0001819	synonymous_variant	191			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"S-adenosylhomocysteine hydrolase"			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.408C>T	20.37:g.32880201G>A			A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.T136	ENST00000217426.2	37	c.408	CCDS13233.1	20																																																																																			AHCY	-	pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase		0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCY	HGNC	protein_coding	OTTHUMT00000078773.2	G	NM_000687		32880201	-1	no_errors	ENST00000217426	ensembl	human	known	70_37	silent	SNP	0.998	A	A	32880201	G	A	32880201	2	1	181	1	0	0	0	0	0	0	0	1	409	1335	47	4		4	AHCY	20	32880201	Silent	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09		32880201	30145319	67	33905										
KCNG1	3755	genome.wustl.edu	37	chr20	49626582	49626582	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	cacacgttgaggatgtcgtcGaagttggtgcaggccttgag	15	8	0	2			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr20:49626582G>A	ENST00000371571.4	-	2	579	c.294C>T	c.(292-294)ttC>ttT	p.F98F	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.F98F|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	98					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGATGTCGTCGAAGTTGGTGC	0.607																																																	0													78	62	67					20																	49626582		2203	4300	6503	SO:0001819	synonymous_variant	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.294C>T	20.37:g.49626582G>A			A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.F98	ENST00000371571.4	37	c.294	CCDS13436.1	20																																																																																			KCNG1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9		0.607	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	G	NM_002237		49626582	-1	no_errors	ENST00000371571	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49626582	G	A	49626582	2	1	181	1	0	0	0	0	0	0	0	1	8047	1049	37	1		1	KCNG1	20	49626582	Silent	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	16746381	49626582	13398938	68	33906										
MICAL3	57553	genome.wustl.edu	37	chr22	18347715	18347715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	cgttggcccgtccgtttgcaTctgtggtggcgccatcctgc	13	14	1	0	rs376349779		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr22:18347715T>C	ENST00000441493.2	-	19	2907	c.2555A>G	c.(2554-2556)gAt>gGt	p.D852G	MICAL3_ENST00000429452.1_Missense_Mutation_p.D976G|MICAL3_ENST00000400561.2_Missense_Mutation_p.D852G|MICAL3_ENST00000414725.2_Missense_Mutation_p.D880G|MICAL3_ENST00000383094.3_Missense_Mutation_p.D852G|MICAL3_ENST00000585038.1_Missense_Mutation_p.D976G|MICAL3_ENST00000207726.7_Missense_Mutation_p.D880G|MICAL3_ENST00000444520.1_Missense_Mutation_p.D852G	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	852					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCGTTTGCATCTGTGGTGGC	0.577																																																	0													87	83	84					22																	18347715		1568	3582	5150	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2555A>G	22.37:g.18347715T>C	ENSP00000416015:p.Asp852Gly		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.D852G	ENST00000441493.2	37	c.2555	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029546	0.35797	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.68181	-0.02;-0.31;-0.07;-0.07;-0.08;-0.07;-0.08	5.72	4.66	0.58398	.	0.323751	0.25324	N	0.031492	T	0.72309	0.3444	L	0.53249	1.67	0.29150	N	0.878471	D;B;B;B;D	0.59357	0.985;0.001;0.0;0.102;0.958	P;B;B;B;P	0.58172	0.834;0.001;0.002;0.034;0.604	T	0.66705	-0.5856	10	0.25106	T	0.35	.	12.8742	0.57982	0.0:0.0:0.136:0.864	.	976;880;852;852;852	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	G	852;976;852;852;880;852;880	ENSP00000416015:D852G;ENSP00000414846:D976G;ENSP00000383406:D852G;ENSP00000410315:D852G;ENSP00000391827:D880G;ENSP00000372574:D852G;ENSP00000207726:D880G	ENSP00000207726:D880G	D	-	2	0	XXbac-B461K10.4;MICAL3	16727715	0.998000	0.40836	0.020000	0.16555	0.653000	0.38743	3.029000	0.49712	0.945000	0.37605	0.533000	0.62120	GAT	MICAL3	-	NULL		0.577	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	T			18347715	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	missense	SNP	0.829	C	C	18347715	T	C	18347715	3	2	181	1	0	0	0	0	1	0	0	0	9594	1435	50	5	3858	5	MICAL3	22	18347715	Missense_Mutation	SNP	T	TCGA-Q1-A5R3-01A-11D-A28B-09		18347715	32956851	69	33907										
SLC25A5	292	genome.wustl.edu	37	chrX	118603747	118603747	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	gcggtaacctggccaatgtcAtcagatacttccccacccag	8	15	2	1	rs141428607		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chrX:118603747A>T	ENST00000317881.8	+	2	351	c.235A>T	c.(235-237)Atc>Ttc	p.I79F	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	79					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGCCAATGTCATCAGATACTT	0.493																																																	0													131	126	128					X																	118603747		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.235A>T	X.37:g.118603747A>T	ENSP00000360671:p.Ile79Phe		B2RCV1|O43350	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.I79F	ENST00000317881.8	37	c.235	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400958	0.83120	.	.	ENSG00000005022	ENST00000317881	T	0.79749	-1.3	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	M	0.93550	3.43	0.09310	P	0.99999999248091	D	0.62365	0.991	P	0.58172	0.834	D	0.94173	0.7425	9	0.87932	D	0	.	12.1849	0.54231	1.0:0.0:0.0:0.0	.	79	P05141	ADT2_HUMAN	F	79	ENSP00000360671:I79F	ENSP00000360671:I79F	I	+	1	0	SLC25A5	118487775	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.811000	0.91954	1.622000	0.50330	0.430000	0.28490	ATC	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	A	NM_001152		118603747	1	no_errors	ENST00000317881	ensembl	human	known	70_37	missense	SNP	1.000	T	T	118603747	A	T	118603747	3	4	181	1	0	0	0	0	1	0	0	0	14542	217	8	5	241	5	SLC25A5	23	118603747	Missense_Mutation	SNP	A	TCGA-Q1-A5R3-01A-11D-A28B-09		118603747	36666813	70	33908										
PDZD4	57595	genome.wustl.edu	37	chrX	153070078	153070078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.253521126760563	18	4.69506264972147e-05	2.900675024108	5.97714853452558	2.05464480874317	0.751186307456559	0.916541783940707	12	actcctcatccgtgaggcccGggacgtcgccccctcccagc	10	20	1	1			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chrX:153070078G>A	ENST00000164640.4	-	8	1231	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	PDZD4_ENST00000393758.2_Missense_Mutation_p.P272L|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.P238L	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	347						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGAGGCCCGGGACGTCGCC	0.662																																																	0													31	29	30					X																	153070078		2199	4297	6496	SO:0001583	missense	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1040C>T	X.37:g.153070078G>A	ENSP00000164640:p.Pro347Leu		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P347L	ENST00000164640.4	37	c.1040	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	G	4.128	0.021953	0.08006	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.03982	3.74;3.75;3.96	5.15	5.15	0.70609	.	0.387540	0.22718	U	0.056484	T	0.06325	0.0163	N	0.11427	0.14	0.41527	D	0.988438	B;B;D;D;B	0.71674	0.218;0.002;0.997;0.998;0.343	B;B;P;P;B	0.56700	0.052;0.003;0.746;0.804;0.052	T	0.55636	-0.8110	10	0.10111	T	0.7	-34.5311	16.4277	0.83824	0.0:0.0:1.0:0.0	.	238;353;347;272;251	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	L	347;272;251;238	ENSP00000164640:P347L;ENSP00000377355:P272L;ENSP00000442033:P238L	ENSP00000164640:P347L	P	-	2	0	PDZD4	152723272	0.264000	0.24093	0.335000	0.25508	0.233000	0.25261	1.256000	0.32921	2.134000	0.65973	0.529000	0.55759	CCG	PDZD4	-	NULL		0.662	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	G	NM_032512		153070078	-1	no_errors	ENST00000164640	ensembl	human	known	70_37	missense	SNP	0.410	A	A	153070078	G	A	153070078	3	1	181	1	0	0	0	0	1	0	0	0	11727	1116	39	2	1273	2	PDZD4	23	153070078	Missense_Mutation	SNP	G	TCGA-Q1-A5R3-01A-11D-A28B-09	34466331	153070078	2200482	71	33909										
PRKCZ	5590	genome.wustl.edu	37	chr1	2087451	2087451	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	caggatattgactgggtacaGacagagaagcacgtgtttga	13	6	0	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:2087451G>A	ENST00000400921.2	+	7	1028	c.345G>A	c.(343-345)caG>caA	p.Q115Q	PRKCZ_ENST00000400920.1_Silent_p.Q115Q|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	298	Interaction with SQSTM1. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	ACTGGGTACAGACAGAGAAGC	0.527																																																	0													176	161	166					1																	2087451		2203	4300	6503	SO:0001819	synonymous_variant	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.345G>A	1.37:g.2087451G>A			A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.Q298	ENST00000400921.2	37	c.894	CCDS41229.1	1																																																																																			PRKCZ	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom		0.527	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	HGNC	protein_coding	OTTHUMT00000098533.3	G	NM_002744		2087451	1	no_errors	ENST00000378567	ensembl	human	known	70_37	silent	SNP	1.000	A	A	2087451	G	A	2087451	2	1	182	1	0	0	0	0	0	0	0	1	12544	933	33	1		1	PRKCZ	1	2087451	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		2087451	247163170	1	33910										
PEX14	5195	genome.wustl.edu	37	chr1	10678417	10678417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ggctcccgatggcgagattaCggcgccctggccatcatcat	12	14	2	1	rs367754543		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:10678417C>T	ENST00000356607.4	+	5	407	c.327C>T	c.(325-327)taC>taT	p.Y109Y	RN7SL614P_ENST00000461850.2_RNA|PEX14_ENST00000538836.1_Silent_p.Y45Y	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	109					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGCGAGATTACGGCGCCCTGG	0.632																																																	0								C		0,4406		0,0,2203	83	72	76		327	-4.2	0.3	1		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PEX14	NM_004565.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		109/378	10678417	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5195			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.327C>T	1.37:g.10678417C>T			B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	pfam_Pex14_N	p.Y109	ENST00000356607.4	37	c.327	CCDS30582.1	1																																																																																			PEX14	-	pfam_Pex14_N		0.632	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1	C			10678417	1	no_errors	ENST00000356607	ensembl	human	known	70_37	silent	SNP	0.961	T	T	10678417	C	T	10678417	2	4	182	1	0	0	0	0	0	0	0	1	11766	547	19	2		2	PEX14	1	10678417	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	8590966	10678417	238572204	2	33911										
PADI4	23569	genome.wustl.edu	37	chr1	17672565	17672565	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctgaagtcagtgactactctGgccatgaaagccaagtgcaa	10	10	2	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:17672565G>C	ENST00000375448.4	+	9	1004	c.978G>C	c.(976-978)ctG>ctC	p.L326L	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	326					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGACTACTCTGGCCATGAAAG	0.512																																																	0													91	79	83					1																	17672565		2203	4300	6503	SO:0001819	synonymous_variant	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.978G>C	1.37:g.17672565G>C			A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L326	ENST00000375448.4	37	c.978	CCDS180.1	1																																																																																			PADI4	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.512	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	G	NM_012387		17672565	1	no_errors	ENST00000375448	ensembl	human	known	70_37	silent	SNP	1.000	C	C	17672565	G	C	17672565	2	2	182	1	0	0	0	0	0	0	0	1	11404	1335	47	4		4	PADI4	1	17672565	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	6994148	17672565	231578056	3	33912										
CLSPN	63967	genome.wustl.edu	37	chr1	36230312	36230312	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttacaaatatctcttcatctGaatctggaggaaacaatttt	5	7	4	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:36230312G>C	ENST00000318121.3	-	3	194	c.137C>G	c.(136-138)tCa>tGa	p.S46*	CLSPN_ENST00000520551.1_Nonsense_Mutation_p.S46*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.S46*|CLSPN_ENST00000251195.5_Nonsense_Mutation_p.S46*	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	46					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCTTCATCTGAATCTGGAGG	0.333																																																	0													40	39	39					1																	36230312		2197	4296	6493	SO:0001587	stop_gained	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.137C>G	1.37:g.36230312G>C	ENSP00000312995:p.Ser46*		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Nonsense_Mutation	SNP	NULL	p.S46*	ENST00000318121.3	37	c.137	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025717	0.93518	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	.	.	.	6.03	6.03	0.97812	.	0.250206	0.33290	N	0.005063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.8225	18.3299	0.90264	0.0:0.0:1.0:0.0	.	.	.	.	X	46	.	ENSP00000251195:S46X	S	-	2	0	CLSPN	36002899	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.180000	0.71981	2.861000	0.98227	0.655000	0.94253	TCA	CLSPN	-	NULL		0.333	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	G	NM_022111		36230312	-1	no_errors	ENST00000318121	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	36230312	G	C	36230312	4	2	182	1	0	0	0	0	0	1	0	0	3565	1294	45	1	3974	1	CLSPN	1	36230312	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	18557747	36230312	213020309	4	33913										
PTCH2	8643	genome.wustl.edu	37	chr1	45292952	45292952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcgggtgatgcgcccagaagCccagtcctggtcaaaggcag	15	12	1	2	rs376329398		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:45292952C>T	ENST00000372192.3	-	16	2531	c.2401G>A	c.(2401-2403)Gct>Act	p.A801T	PTCH2_ENST00000447098.2_Missense_Mutation_p.A801T	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	801					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CGCCCAGAAGCCCAGTCCTGG	0.632									Basal Cell Nevus syndrome																																								0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	62	68	66		2401,2401	3.9	1	1		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTCH2	NM_003738.4,NM_001166292.1	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	801/1204,801/1147	45292952	1,13005	2203	4300	6503	SO:0001583	missense	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2401G>A	1.37:g.45292952C>T	ENSP00000361266:p.Ala801Thr		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.A801T	ENST00000372192.3	37	c.2401	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229571	0.39399	0.0	1.16E-4	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.82803	-1.65;-1.65	4.85	3.92	0.45320	.	0.000000	0.44097	D	0.000500	T	0.75391	0.3843	L	0.34521	1.04	0.43271	D	0.995224	P;B	0.36048	0.534;0.444	B;B	0.42030	0.373;0.146	T	0.70096	-0.4966	10	0.22109	T	0.4	-28.6512	9.7393	0.40409	0.0:0.7638:0.1541:0.0821	.	801;801	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	T	801	ENSP00000389703:A801T;ENSP00000361266:A801T	ENSP00000361266:A801T	A	-	1	0	PTCH2	45065539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.210000	0.51129	2.402000	0.81655	0.557000	0.71058	GCT	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	C	NM_003738		45292952	-1	no_errors	ENST00000372192	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45292952	C	T	45292952	3	4	182	1	0	0	0	0	1	0	0	0	12758	739	26	4	1258	4	PTCH2	1	45292952	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	9062640	45292952	203957669	5	33914										
CCDC18	50999	genome.wustl.edu	37	chr1	93646208	93646208	+	5'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cccggcaagccccgcgccttCggcggcgcctcacgcagtct	12	20	2	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:93646208C>T	ENST00000370282.3	-	0	77				CCDC18_ENST00000557479.1_Missense_Mutation_p.R41W|TMED5_ENST00000370280.1_5'Flank|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR|TMED5_ENST00000479918.1_5'Flank|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000338949.4_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5						Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CCCGCGCCTTCGGCGGCGCCT	0.721																																																	0													13	15	14					1																	93646208		1778	3983	5761	SO:0001623	5_prime_UTR_variant	343099			BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.-409G>A	1.37:g.93646208C>T			B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.R41W	ENST00000370282.3	37	c.121	CCDS743.1	1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627853	0.46944	.	.	ENSG00000122483	ENST00000557479	.	.	.	4.77	-9.55	0.00569	.	.	.	.	.	T	0.10208	0.0250	.	.	.	0.20196	N	0.999924	B	0.02656	0.0	B	0.01281	0.0	T	0.31110	-0.9955	7	0.54805	T	0.06	.	9.2507	0.37554	0.0:0.1419:0.2862:0.5719	.	41	G3V388	.	W	41	.	ENSP00000383808:R41W	R	+	1	2	CCDC18	93418796	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.397000	0.01051	-2.374000	0.00599	-0.291000	0.09656	CGG	CCDC18	-	NULL		0.721	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000028076.3	C	NM_016040		93646208	1	no_errors	ENST00000557479	ensembl	human	known	70_37	missense	SNP	0.000	T	T	93646208	C	T	93646208	1	4	182	0	1	0	0	0	0	0	0	0	2799	875	31	1		1	CCDC18	1	93646208	5'UTR	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	48353256	93646208	155604413	6	33915										
COL11A1	1301	genome.wustl.edu	37	chr1	103364276	103364276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ccaggctttcctgcaggtccCtgaggaccgactgggccggt	14	14	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:103364276C>T	ENST00000370096.3	-	56	4506	c.4194G>A	c.(4192-4194)caG>caA	p.Q1398Q	COL11A1_ENST00000358392.2_Silent_p.Q1410Q|COL11A1_ENST00000512756.1_Silent_p.Q1282Q|COL11A1_ENST00000353414.4_Silent_p.Q1359Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1398	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGCAGGTCCCTGAGGACCGA	0.478																																																	0													44	47	46					1																	103364276		2203	4300	6503	SO:0001819	synonymous_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4194G>A	1.37:g.103364276C>T			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.Q1410	ENST00000370096.3	37	c.4230	CCDS778.1	1																																																																																			COL11A1	-	pfam_Collagen		0.478	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	C	NM_080630		103364276	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	silent	SNP	0.999	T	T	103364276	C	T	103364276	2	4	182	1	0	0	0	0	0	0	0	1	3672	680	24	4		4	COL11A1	1	103364276	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	9718068	103364276	145886345	7	33916										
PRPF38B	55119	genome.wustl.edu	37	chr1	109241261	109241261	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gctggtggaggctgtgtaatGaccattggagaaatgctacg	15	6	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:109241261G>A	ENST00000370025.4	+	5	863	c.594G>A	c.(592-594)atG>atA	p.M198I	PRPF38B_ENST00000370021.1_Missense_Mutation_p.M87I	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	198					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GCTGTGTAATGACCATTGGAG	0.373																																																	0													126	122	123					1																	109241261		2203	4300	6503	SO:0001583	missense	55119			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.594G>A	1.37:g.109241261G>A	ENSP00000359042:p.Met198Ile		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	pfam_PRP38	p.M198I	ENST00000370025.4	37	c.594	CCDS788.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166488	0.78339	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	L	0.48877	1.53	0.80722	D	1	P	0.37207	0.587	B	0.42112	0.376	T	0.47586	-0.9106	9	0.19147	T	0.46	.	19.9311	0.97118	0.0:0.0:1.0:0.0	.	198	Q5VTL8	PR38B_HUMAN	I	198;87	.	ENSP00000359038:M87I	M	+	3	0	PRPF38B	109042784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.714000	0.92807	0.655000	0.94253	ATG	PRPF38B	-	pfam_PRP38		0.373	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1	G	NM_018061		109241261	1	no_errors	ENST00000370025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109241261	G	A	109241261	3	1	182	1	0	0	0	0	1	0	0	0	12595	1290	45	1	612	1	PRPF38B	1	109241261	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	5876985	109241261	140009360	8	33917										
DENND2D	79961	genome.wustl.edu	37	chr1	111731372	111731372	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agagtctaagatgtcatcctGaagcttcggtggcaggatgt	13	7	2	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:111731372G>C	ENST00000357640.4	-	10	1280	c.1051C>G	c.(1051-1053)Cag>Gag	p.Q351E	DENND2D_ENST00000369752.5_Missense_Mutation_p.Q348E	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	351					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		ATGTCATCCTGAAGCTTCGGT	0.488																																																	0													201	196	198					1																	111731372		2203	4300	6503	SO:0001583	missense	79961				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1051C>G	1.37:g.111731372G>C	ENSP00000350266:p.Gln351Glu		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Q351E	ENST00000357640.4	37	c.1051	CCDS831.1	1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419999	0.62622	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.15139	2.45;2.45	5.2	5.2	0.72013	.	0.060296	0.64402	D	0.000002	T	0.21921	0.0528	M	0.72118	2.19	0.35021	D	0.757828	D;D	0.57257	0.979;0.979	P;P	0.51487	0.671;0.625	T	0.02326	-1.1176	10	0.45353	T	0.12	-18.4575	16.5792	0.84710	0.0:0.0:1.0:0.0	.	348;351	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	E	351;348	ENSP00000350266:Q351E;ENSP00000358767:Q348E	ENSP00000350266:Q351E	Q	-	1	0	DENND2D	111532895	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	5.242000	0.65389	2.586000	0.87340	0.655000	0.94253	CAG	DENND2D	-	NULL		0.488	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND2D	HGNC	protein_coding	OTTHUMT00000034456.1	G	NM_024901		111731372	-1	no_errors	ENST00000357640	ensembl	human	known	70_37	missense	SNP	1.000	C	C	111731372	G	C	111731372	3	2	182	1	0	0	0	0	1	0	0	0	4441	1299	45	1	376	1	DENND2D	1	111731372	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2490111	111731372	137519249	9	33918										
PTGFRN	5738	genome.wustl.edu	37	chr1	117509728	117509728	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	catctctctggaccaggattCtgtggtgaagctggagaatt	12	8	3	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:117509728C>T	ENST00000393203.2	+	6	1982	c.1835C>T	c.(1834-1836)tCt>tTt	p.S612F	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	612	Ig-like C2-type 5.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACCAGGATTCTGTGGTGAAG	0.502																																																	0													128	131	130					1																	117509728		2203	4300	6503	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1835C>T	1.37:g.117509728C>T	ENSP00000376899:p.Ser612Phe		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S612F	ENST00000393203.2	37	c.1835	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853192	0.71719	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.04360	3.64	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.373568	0.29868	N	0.010997	T	0.08447	0.0210	L	0.50333	1.59	0.42832	D	0.994026	D	0.53462	0.96	P	0.59761	0.863	T	0.00986	-1.1490	10	0.72032	D	0.01	-12.7753	13.0339	0.58859	0.0:0.8383:0.1617:0.0	.	612	Q9P2B2	FPRP_HUMAN	F	612;471	ENSP00000376899:S612F	ENSP00000376899:S612F	S	+	2	0	PTGFRN	117311251	0.962000	0.33011	0.337000	0.25536	0.997000	0.91878	4.471000	0.60182	2.787000	0.95880	0.650000	0.86243	TCT	PTGFRN	-	smart_Ig_sub		0.502	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117509728	1	no_errors	ENST00000393203	ensembl	human	known	70_37	missense	SNP	0.518	T	T	117509728	C	T	117509728	3	4	182	1	0	0	0	0	1	0	0	0	12778	913	32	1	1857	1	PTGFRN	1	117509728	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	5778356	117509728	131740893	10	33919										
PTGFRN	5738	genome.wustl.edu	37	chr1	117509950	117509950	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgagatagacttccaaacctCaggtgagcagtgagccctgt	11	10	1	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:117509950C>G	ENST00000393203.2	+	6	2204	c.2057C>G	c.(2056-2058)tCa>tGa	p.S686*	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	686					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTCCAAACCTCAGGTGAGCAG	0.493																																																	0													40	41	41					1																	117509950		2203	4300	6503	SO:0001587	stop_gained	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2057C>G	1.37:g.117509950C>G	ENSP00000376899:p.Ser686*		Q5VVU9|Q8N2K6	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S686*	ENST00000393203.2	37	c.2057	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.363836	0.99148	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	.	.	.	5.56	5.56	0.83823	.	0.449452	0.24488	N	0.038087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.327	17.3816	0.87406	0.0:1.0:0.0:0.0	.	.	.	.	X	686;545	.	ENSP00000376899:S686X	S	+	2	0	PTGFRN	117311473	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.635000	0.67841	2.787000	0.95880	0.650000	0.86243	TCA	PTGFRN	-	NULL		0.493	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117509950	1	no_errors	ENST00000393203	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	117509950	C	G	117509950	4	3	182	1	0	0	0	0	0	1	0	0	12778	838	29	1	2079	1	PTGFRN	1	117509950	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	222	117509950	131740671	11	33920										
HIST2H2AC	8338	genome.wustl.edu	37	chr1	149858613	149858613	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cctccagttcccggtagggcGagtgcaccgcttgctgcgca	13	15	0	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:149858613G>C	ENST00000331380.2	+	1	89	c.89G>C	c.(88-90)cGa>cCa	p.R30P	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	30						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGGTAGGGCGAGTGCACCGC	0.672																																																	0													60	67	64					1																	149858613		2202	4298	6500	SO:0001583	missense	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.89G>C	1.37:g.149858613G>C	ENSP00000332194:p.Arg30Pro		Q6DRA7|Q8IUE5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R30P	ENST00000331380.2	37	c.89	CCDS937.1	1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694144	0.68386	.	.	ENSG00000184260	ENST00000331380	D	0.85339	-1.97	5.81	5.81	0.92471	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.42964	D	0.000638	D	0.96815	0.8960	H	0.99948	5.02	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.98688	1.0695	10	0.87932	D	0	.	18.6409	0.91396	0.0:0.0:1.0:0.0	.	30	Q16777	H2A2C_HUMAN	P	30	ENSP00000332194:R30P	ENSP00000332194:R30P	R	+	2	0	HIST2H2AC	148125237	1.000000	0.71417	0.081000	0.20488	0.963000	0.63663	7.466000	0.80914	2.745000	0.94114	0.655000	0.94253	CGA	HIST2H2AC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AC	HGNC	protein_coding	OTTHUMT00000087128.1	G	NM_003517		149858613	1	no_errors	ENST00000331380	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149858613	G	C	149858613	3	2	182	1	0	0	0	0	1	0	0	0	7198	1058	37	1	91	1	HIST2H2AC	1	149858613	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	32348663	149858613	99392008	12	33921										
FLG	2312	genome.wustl.edu	37	chr1	152278983	152278983	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tacccctgccttcctcctctGcttgaccccgggtgtccacg	8	19	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:152278983G>C	ENST00000368799.1	-	3	8414	c.8379C>G	c.(8377-8379)agC>agG	p.S2793R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2793	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			TTCCTCCTCTGCTTGACCCCG	0.592									Ichthyosis																																								0													269	367	334					1																	152278983		2192	4296	6488	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8379C>G	1.37:g.152278983G>C	ENSP00000357789:p.Ser2793Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S2793R	ENST00000368799.1	37	c.8379	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	5.862	0.343226	0.11069	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03745	3.82	4.2	0.631	0.17699	.	.	.	.	.	T	0.01029	0.0034	L	0.37850	1.14	0.09310	N	1	B	0.18863	0.031	B	0.14578	0.011	T	0.47100	-0.9143	9	0.72032	D	0.01	-0.3483	3.0168	0.06063	0.3065:0.2311:0.4624:0.0	.	2793	P20930	FILA_HUMAN	R	2793;55	ENSP00000357789:S2793R	ENSP00000357786:S55R	S	-	3	2	FLG	150545607	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.340000	0.19892	0.352000	0.24053	-0.675000	0.03792	AGC	FLG	-	NULL		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152278983	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	C	C	152278983	G	C	152278983	3	2	182	1	0	0	0	0	1	0	0	0	5940	1310	46	4	3810	4	FLG	1	152278983	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2420370	152278983	96971638	13	33922										
C1orf66	51093	genome.wustl.edu	37	chr1	156705540	156705540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgtgcagcgggggctacagcGagtggggctagatccccagc	17	11	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:156705540G>A	ENST00000368216.4	+	7	1775	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	RRNAD1_ENST00000368218.4_Silent_p.A220A|RRNAD1_ENST00000476229.1_Silent_p.A97A|MRPL24_ENST00000478899.1_5'Flank	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	382						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGGCTACAGCGAGTGGGGCTA	0.547																																																	0													78	71	74					1																	156705540		2203	4300	6503	SO:0001583	missense	51093			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1145G>A	1.37:g.156705540G>A	ENSP00000357199:p.Arg382Gln		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	NULL	p.R382Q	ENST00000368216.4	37	c.1145	CCDS1154.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.21|15.21	2.764513|2.764513	0.49574|0.49574	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000522237|ENST00000368216	.|T	.|0.47177	.|0.85	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|0.069785	.|0.64402	.|D	.|0.000017	T|T	0.51381|0.51381	0.1671|0.1671	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.56865	.|0.808	T|T	0.55366|0.55366	-0.8152|-0.8152	4|9	.|0.59425	.|D	.|0.04	-14.6586|-14.6586	12.7396|12.7396	0.57243|0.57243	0.0:0.0:0.8351:0.1649|0.0:0.0:0.8351:0.1649	.|.	.|382	.|Q96FB5	.|RRNAD_HUMAN	K|Q	122|382	.|ENSP00000357199:R382Q	.|ENSP00000357199:R382Q	E|R	+|+	1|2	0|0	RRNAD1|RRNAD1	154972164|154972164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	5.776000|5.776000	0.68924|0.68924	2.555000|2.555000	0.86185|0.86185	0.655000|0.655000	0.94253|0.94253	GAG|CGA	RRNAD1	-	NULL		0.547	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRNAD1	HGNC	protein_coding	OTTHUMT00000098973.1	G	NM_015997		156705540	1	no_errors	ENST00000368216	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156705540	G	A	156705540	3	1	182	1	0	0	0	0	1	0	0	0	2061	1058	37	1	1171	1	C1orf66	1	156705540	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	4426557	156705540	92545081	14	33923										
OR10K2	391107	genome.wustl.edu	37	chr1	158389870	158389870	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcttgaggagtagttggactGaggccttaagtagataaagg	15	4	0	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:158389870G>A	ENST00000314902.2	-	1	786	c.787C>T	c.(787-789)Cag>Tag	p.Q263*		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TAGTTGGACTGAGGCCTTAAG	0.408																																																	0													115	113	113					1																	158389870		2203	4300	6503	SO:0001587	stop_gained	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.787C>T	1.37:g.158389870G>A	ENSP00000324251:p.Gln263*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q263*	ENST00000314902.2	37	c.787	CCDS30896.1	1	.	.	.	.	.	.	.	.	.	.	g	3.746	-0.052569	0.07362	.	.	ENSG00000180708	ENST00000314902	.	.	.	4.23	-1.27	0.09347	.	0.146527	0.30879	N	0.008689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.365	0.32380	0.0:0.0773:0.2714:0.6513	.	.	.	.	X	263	.	ENSP00000324251:Q263X	Q	-	1	0	OR10K2	156656494	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.872000	0.04219	-0.324000	0.08589	-1.515000	0.00940	CAG	OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.408	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	G	NM_001004476		158389870	-1	no_errors	ENST00000314902	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	158389870	G	A	158389870	4	1	182	1	0	0	0	0	0	1	0	0	10938	1299	45	1	153	1	OR10K2	1	158389870	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	1684330	158389870	90860751	15	33924										
ADCY10	55811	genome.wustl.edu	37	chr1	167778974	167778974	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tttgtttttttgaagatcctGaatgtttaccctgcctgcta	7	8	0	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:167778974G>C	ENST00000367851.4	-	33	4958	c.4774C>G	c.(4774-4776)Cag>Gag	p.Q1592E	ADCY10_ENST00000367848.1_Missense_Mutation_p.Q1500E|ADCY10_ENST00000545172.1_Missense_Mutation_p.Q1439E	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1592					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAAGATCCTGAATGTTTACC	0.373																																																	0													145	137	140					1																	167778974		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4774C>G	1.37:g.167778974G>C	ENSP00000356825:p.Gln1592Glu		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.Q1592E	ENST00000367851.4	37	c.4774	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071806	0.36566	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.29655	1.56;1.56;1.56	5.44	-0.364	0.12553	.	1.288270	0.05253	N	0.514351	T	0.10423	0.0255	L	0.57536	1.79	0.23336	N	0.99789	B;B	0.15141	0.012;0.007	B;B	0.16289	0.015;0.006	T	0.29912	-0.9996	9	0.33940	T	0.23	-0.6107	2.4744	0.04572	0.0918:0.2812:0.3082:0.3188	.	1500;1592	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	E	1439;1592;1500	ENSP00000441992:Q1439E;ENSP00000356825:Q1592E;ENSP00000356822:Q1500E	ENSP00000356822:Q1500E	Q	-	1	0	ADCY10	166045598	0.009000	0.17119	0.001000	0.08648	0.271000	0.26615	0.227000	0.17795	0.224000	0.20940	0.591000	0.81541	CAG	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167778974	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	missense	SNP	0.000	C	C	167778974	G	C	167778974	3	2	182	1	0	0	0	0	1	0	0	0	293	1299	45	1	62	1	ADCY10	1	167778974	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	9389104	167778974	81471647	16	33925										
DNM3	26052	genome.wustl.edu	37	chr1	172348158	172348158	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tttgttttctcttcttttagGctgaaaatgatgagaatgga	9	4	2	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:172348158G>T	ENST00000355305.5	+	18	2069	c.1912G>T	c.(1912-1914)Gct>Tct	p.A638S	DNM3_ENST00000367731.1_Splice_Site_p.A628S|DNM3_ENST00000358155.4_Splice_Site_p.A632S			Q9UQ16	DYN3_HUMAN	dynamin 3	638					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTTCTTTTAGGCTGAAAATGA	0.383																																																	0													65	66	65					1																	172348158		1944	4175	6119	SO:0001630	splice_region_variant	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1912-1G>T	1.37:g.172348158G>T			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.A632S	ENST00000355305.5	37	c.1894		1	.	.	.	.	.	.	.	.	.	.	G	5.400	0.259029	0.10239	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	D;D;D;T	0.92699	-3.09;-3.05;-3.05;-0.82	5.49	0.507	0.16967	.	0.520042	0.17717	N	0.164381	T	0.72003	0.3407	N	0.20807	0.61	0.80722	D	1	B;B	0.18166	0.005;0.026	B;B	0.19391	0.025;0.015	T	0.58284	-0.7663	9	.	.	.	.	9.1863	0.37172	0.4794:0.0:0.5206:0.0	.	628;632	Q9UQ16-2;Q9UQ16-3	.;.	S	642;632;638;628;1	ENSP00000350876:A632S;ENSP00000347457:A638S;ENSP00000356705:A628S;ENSP00000429165:A1S	.	A	+	1	0	DNM3	170614781	1.000000	0.71417	0.982000	0.44146	0.686000	0.39977	0.571000	0.23669	0.084000	0.17077	-0.378000	0.06908	GCT	DNM3	-	NULL		0.383	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	G	NM_015569	Missense_Mutation	172348158	1	no_errors	ENST00000358155	ensembl	human	known	70_37	missense	SNP	1.000	T	T	172348158	G	T	172348158	5	4	182	1	0	0	0	0	0	0	1	0	4683	1217	42	4	1964	4	DNM3	1	172348158	Splice_Site	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	4569184	172348158	76902463	17	33926										
ASTN1	460	genome.wustl.edu	37	chr1	176934347	176934347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ccaaaaccaggtcaaagcctCgctgaaatattgtgtaaggc	9	10	1	1	rs370485432		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:176934347C>T	ENST00000367654.3	-	9	1785	c.1574G>A	c.(1573-1575)cGa>cAa	p.R525Q	ASTN1_ENST00000424564.2_Missense_Mutation_p.R517Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R517Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R517Q|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	525					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCAAAGCCTCGCTGAAATAT	0.418																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	126	128	128		1550,1550	5.1	1	1		128	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ASTN1	NM_004319.1,NM_207108.1	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	517/1295,517/1217	176934347	2,13004	2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1574G>A	1.37:g.176934347C>T	ENSP00000356626:p.Arg525Gln		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.R525Q	ENST00000367654.3	37	c.1574		1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810675	0.90707	0.0	2.33E-4	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;D;T	0.87256	2.22;2.63;-2.23;2.22	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	L	0.27053	0.805	0.53688	D	0.99997	P;P;P	0.46327	0.876;0.876;0.876	B;B;B	0.34652	0.187;0.187;0.132	D	0.84012	0.0349	10	0.87932	D	0	-12.5265	18.4965	0.90866	0.0:1.0:0.0:0.0	.	525;517;517	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	Q	517;517;525;517;517	ENSP00000356629:R517Q;ENSP00000354536:R517Q;ENSP00000356626:R525Q;ENSP00000395041:R517Q	ENSP00000354536:R517Q	R	-	2	0	ASTN1	175200970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.299000	0.65716	2.517000	0.84864	0.555000	0.69702	CGA	ASTN1	-	NULL		0.418	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		C	NM_004319		176934347	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	T	T	176934347	C	T	176934347	3	4	182	1	0	0	0	0	1	0	0	0	1065	884	31	1	2398	1	ASTN1	1	176934347	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	4586189	176934347	72316274	18	33927										
TEDDM1	127670	genome.wustl.edu	37	chr1	182369123	182369123	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgcatcagccaggagcccatCatcagaatcagaaaggtctc	9	12	5	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:182369123C>T	ENST00000367565.1	-	1	628	c.498G>A	c.(496-498)atG>atA	p.M166I		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	166						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AGGAGCCCATCATCAGAATCA	0.517																																																	0													73	75	74					1																	182369123		2203	4300	6503	SO:0001583	missense	127670			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.498G>A	1.37:g.182369123C>T	ENSP00000356536:p.Met166Ile		Q8IVJ0	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.M166I	ENST00000367565.1	37	c.498	CCDS30953.1	1	.	.	.	.	.	.	.	.	.	.	c	6.544	0.468551	0.12461	.	.	ENSG00000203730	ENST00000367565	T	0.40756	1.02	4.92	-4.14	0.03892	.	1.343820	0.04646	N	0.406104	T	0.32645	0.0836	L	0.39898	1.24	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.24870	-1.0148	10	0.28530	T	0.3	-10.9514	9.9629	0.41708	0.1082:0.1774:0.639:0.0754	.	166	Q5T9Z0	TEDM1_HUMAN	I	166	ENSP00000356536:M166I	ENSP00000356536:M166I	M	-	3	0	TEDDM1	180635746	0.209000	0.23505	0.004000	0.12327	0.519000	0.34347	-0.565000	0.05929	-1.080000	0.03109	-0.215000	0.12644	ATG	TEDDM1	-	pfam_DUF716_TMEM45		0.517	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEDDM1	HGNC	protein_coding	OTTHUMT00000091029.1	C	NM_172000		182369123	-1	no_errors	ENST00000367565	ensembl	human	known	70_37	missense	SNP	0.002	T	T	182369123	C	T	182369123	3	4	182	1	0	0	0	0	1	0	0	0	15779	826	29	1	327	1	TEDDM1	1	182369123	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	5434776	182369123	66881498	19	33928										
PRG4	10216	genome.wustl.edu	37	chr1	186273271	186273271	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	acatcaccaccatcttcaaaGaaagcacctccaccttcagg	4	16	4	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:186273271G>C	ENST00000445192.2	+	5	396	c.351G>C	c.(349-351)aaG>aaC	p.K117N	PRG4_ENST00000367483.4_Missense_Mutation_p.K76N|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.K76N|PRG4_ENST00000367486.3_Missense_Mutation_p.K117N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	117					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CATCTTCAAAGAAAGCACCTC	0.408																																																	0													190	161	171					1																	186273271		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.351G>C	1.37:g.186273271G>C	ENSP00000399679:p.Lys117Asn		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.K117N	ENST00000445192.2	37	c.351	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126933	0.20959	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000445192	T;T;T;T	0.05513	3.43;3.54;3.5;3.51	5.38	4.46	0.54185	.	0.138592	0.32563	N	0.005922	T	0.14141	0.0342	M	0.65975	2.015	0.22354	N	0.99917	D;D	0.63880	0.988;0.993	P;P	0.57057	0.654;0.812	T	0.11743	-1.0575	10	0.72032	D	0.01	-9.8056	5.1191	0.14851	0.1687:0.1799:0.6514:0.0	.	117;76	Q92954;Q92954-2	PRG4_HUMAN;.	N	117;76;76;117	ENSP00000356456:K117N;ENSP00000356454:K76N;ENSP00000356453:K76N;ENSP00000399679:K117N	ENSP00000356453:K76N	K	+	3	2	PRG4	184539894	0.987000	0.35691	0.970000	0.41538	0.032000	0.12392	1.508000	0.35769	2.520000	0.84964	0.585000	0.79938	AAG	PRG4	-	NULL		0.408	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	G	NM_005807		186273271	1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.836	C	C	186273271	G	C	186273271	3	2	182	1	0	0	0	0	1	0	0	0	12508	933	33	1	365	1	PRG4	1	186273271	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	3904148	186273271	62977350	20	33929										
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200817339	200817339	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	caagccaataaatggagaagAggaagcagagagcattgaag	13	5	0	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:200817339A>T	ENST00000236925.4	+	12	1524	c.1475A>T	c.(1474-1476)gAg>gTg	p.E492V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.E465V|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.E481V			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	492					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AATGGAGAAGAGGAAGCAGAG	0.348																																																	0													87	92	90					1																	200817339		2203	4300	6503	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1475A>T	1.37:g.200817339A>T	ENSP00000236925:p.Glu492Val		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E492V	ENST00000236925.4	37	c.1475		1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504809	0.26949	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.15139	2.46;2.45;2.46	5.62	3.26	0.37387	.	0.342996	0.33959	N	0.004381	T	0.10852	0.0265	L	0.36672	1.1	0.35560	D	0.804568	P;B;B	0.37276	0.589;0.007;0.01	B;B;B	0.30316	0.114;0.012;0.02	T	0.29150	-1.0021	10	0.26408	T	0.33	-12.6215	9.0195	0.36191	0.8536:0.0:0.1464:0.0	.	465;492;481	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	V	481;465;492	ENSP00000351684:E481V;ENSP00000416800:E465V;ENSP00000236925:E492V	ENSP00000236925:E492V	E	+	2	0	CAMSAP1L1	199083962	1.000000	0.71417	0.930000	0.37139	0.996000	0.88848	4.726000	0.61986	0.381000	0.24851	0.533000	0.62120	GAG	CAMSAP2	-	NULL		0.348	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	A	NM_203459		200817339	1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	1.000	T	T	200817339	A	T	200817339	3	4	182	1	0	0	0	0	1	0	0	0	2617	304	11	5	1484	5	CAMSAP1L1	1	200817339	Missense_Mutation	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	14544068	200817339	48433282	21	33930										
CACNA1S	779	genome.wustl.edu	37	chr1	201061236	201061236	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	acctgttccagaatcacggtGaagaccctagaatggagaag	11	9	1	5			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:201061236G>A	ENST00000362061.3	-	4	631	c.405C>T	c.(403-405)ttC>ttT	p.F135F	CACNA1S_ENST00000367338.3_Silent_p.F135F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	135					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAATCACGGTGAAGACCCTAG	0.577																																																	0													76	75	75					1																	201061236		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.405C>T	1.37:g.201061236G>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.F135	ENST00000362061.3	37	c.405	CCDS1407.1	1																																																																																			CACNA1S	-	pfam_Ion_trans_dom,prints_VDCC_L_a1su		0.577	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	G	NM_000069		201061236	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	silent	SNP	1.000	A	A	201061236	G	A	201061236	2	1	182	1	0	0	0	0	0	0	0	1	2552	1281	45	1		1	CACNA1S	1	201061236	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	243897	201061236	48189385	22	33931										
SLC30A1	7779	genome.wustl.edu	37	chr1	211748962	211748962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgcaggcaagttcacacggaActacacttgatttagagcct	9	10	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:211748962A>G	ENST00000367001.4	-	2	1421	c.1292T>C	c.(1291-1293)gTt>gCt	p.V431A		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	431					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TTCACACGGAACTACACTTGA	0.458																																																	0													105	97	100					1																	211748962		2203	4300	6503	SO:0001583	missense	7779			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"Solute carriers"	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.1292T>C	1.37:g.211748962A>G	ENSP00000355968:p.Val431Ala		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.V431A	ENST00000367001.4	37	c.1292	CCDS1499.1	1	.	.	.	.	.	.	.	.	.	.	A	0.027	-1.361930	0.01235	.	.	ENSG00000170385	ENST00000367001	T	0.62232	0.04	5.51	0.373	0.16178	.	0.307407	0.34986	N	0.003525	T	0.31167	0.0788	N	0.08118	0	0.25152	N	0.990413	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.08837	T	0.75	-4.5749	6.2033	0.20587	0.2537:0.3875:0.3588:0.0	.	431	Q9Y6M5	ZNT1_HUMAN	A	431	ENSP00000355968:V431A	ENSP00000355968:V431A	V	-	2	0	SLC30A1	209815585	1.000000	0.71417	0.336000	0.25522	0.658000	0.38924	3.411000	0.52672	0.065000	0.16485	-0.418000	0.06021	GTT	SLC30A1	-	NULL		0.458	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A1	HGNC	protein_coding	OTTHUMT00000104738.2	A			211748962	-1	no_errors	ENST00000367001	ensembl	human	known	70_37	missense	SNP	0.784	G	G	211748962	A	G	211748962	3	3	182	1	0	0	0	0	1	0	0	0	14583	43	2	5	235	5	SLC30A1	1	211748962	Missense_Mutation	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	10687726	211748962	37501659	23	33932										
EDARADD	128178	genome.wustl.edu	37	chr1	236577572	236577572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttctacagtcagacaaatatCccattcaagatacggaactc	5	11	3	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:236577572C>T	ENST00000334232.4	+	3	300	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	EDARADD_ENST00000359362.5_Missense_Mutation_p.P35S	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	45					cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGACAAATATCCCATTCAAGA	0.323																																																	0													99	103	102					1																	236577572		2203	4299	6502	SO:0001583	missense	128178			AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.133C>T	1.37:g.236577572C>T	ENSP00000335076:p.Pro45Ser		A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like	p.P45S	ENST00000334232.4	37	c.133	CCDS1610.1	1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348016	0.61183	.	.	ENSG00000186197	ENST00000439430;ENST00000334232;ENST00000359362	T;T;D	0.83335	-0.34;-1.15;-1.71	4.72	3.79	0.43588	.	0.000000	0.48767	U	0.000163	D	0.82614	0.5075	M	0.71581	2.175	0.40232	D	0.977857	P;D	0.56287	0.58;0.975	B;P	0.45712	0.196;0.491	D	0.84495	0.0613	10	0.87932	D	0	-13.2909	10.6161	0.45451	0.0:0.8052:0.1948:0.0	.	35;45	A8K7B5;Q8WWZ3	.;EDAD_HUMAN	S	23;45;35	ENSP00000405815:P23S;ENSP00000335076:P45S;ENSP00000352320:P35S	ENSP00000335076:P45S	P	+	1	0	EDARADD	234644195	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.295000	0.43576	1.188000	0.43014	0.563000	0.77884	CCC	EDARADD	-	NULL		0.323	EDARADD-001	KNOWN	basic|CCDS	protein_coding	EDARADD	HGNC	protein_coding	OTTHUMT00000096368.1	C	NM_145861		236577572	1	no_errors	ENST00000334232	ensembl	human	known	70_37	missense	SNP	1.000	T	T	236577572	C	T	236577572	3	4	182	1	0	0	0	0	1	0	0	0	4916	855	30	1	178	1	EDARADD	1	236577572	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	24828610	236577572	12673049	24	33933										
CHRM3	1131	genome.wustl.edu	37	chr1	240071991	240071991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agctgcaggcccagaagagcGtggacgatggaggcagtttt	16	8	0	2	rs145638222		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr1:240071991G>A	ENST00000255380.4	+	5	2019	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	414					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAGAAGAGCGTGGACGATGG	0.557													G|||	1	0.000199681	0	0.0014	5008	,	,		20521	0		0	False		,,,				2504	0																0								G	MET/VAL	0,4406		0,0,2203	46	44	44		1240	-9.9	0	1	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CHRM3	NM_000740.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	414/591	240071991	1,13005	2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1240G>A	1.37:g.240071991G>A	ENSP00000255380:p.Val414Met		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.V414M	ENST00000255380.4	37	c.1240	CCDS1616.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.641	-0.073528	0.07184	0.0	1.16E-4	ENSG00000133019	ENST00000255380	T	0.59502	0.26	5.97	-9.85	0.00476	GPCR, rhodopsin-like superfamily (1);	0.939929	0.09064	N	0.853823	T	0.37156	0.0993	L	0.38175	1.15	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.25433	-1.0132	10	0.46703	T	0.11	-6.8869	7.049	0.25063	0.2219:0.1713:0.5224:0.0844	.	414	P20309	ACM3_HUMAN	M	414	ENSP00000255380:V414M	ENSP00000255380:V414M	V	+	1	0	CHRM3	238138614	0.000000	0.05858	0.003000	0.11579	0.630000	0.37929	-1.440000	0.02412	-1.752000	0.01325	-0.140000	0.14226	GTG	CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	G	NM_000740		240071991	1	no_errors	ENST00000255380	ensembl	human	known	70_37	missense	SNP	0.000	A	A	240071991	G	A	240071991	3	1	182	1	0	0	0	0	1	0	0	0	3383	1145	40	2	1242	2	CHRM3	1	240071991	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	3494419	240071991	9178630	25	33934										
ROCK2	9475	genome.wustl.edu	37	chr2	11337678	11337678	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	catttcattcagttctttctGatacttgatcatctgctggg	7	9	6	2	rs376988314		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr2:11337678G>C	ENST00000315872.6	-	26	3701	c.3253C>G	c.(3253-3255)Cag>Gag	p.Q1085E	ROCK2_ENST00000401753.1_Missense_Mutation_p.Q842E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1085					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGTTCTTTCTGATACTTGATC	0.353																																																	0													189	169	175					2																	11337678		1857	4095	5952	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3253C>G	2.37:g.11337678G>C	ENSP00000317985:p.Gln1085Glu		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.Q1085E	ENST00000315872.6	37	c.3253	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662830	0.88251	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.62788	-0.0;1.01	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	M	0.79693	2.465	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	T	0.81389	-0.0955	10	0.54805	T	0.06	.	19.8689	0.96843	0.0:0.0:1.0:0.0	.	1085	O75116	ROCK2_HUMAN	E	1085;842;443	ENSP00000317985:Q1085E;ENSP00000385509:Q842E	ENSP00000317985:Q1085E	Q	-	1	0	ROCK2	11255129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.695000	0.91970	0.557000	0.71058	CAG	ROCK2	-	pirsf_Rho-assoc_coiled-coil_kin		0.353	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	G			11337678	-1	no_errors	ENST00000315872	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11337678	G	C	11337678	3	2	182	1	0	0	0	0	1	0	0	0	13548	1299	45	1	945	1	ROCK2	2	11337678	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		11337678	231861695	26	33935										
IL1R2	7850	genome.wustl.edu	37	chr2	102644707	102644707	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcctcctccacgttctcctgGggcattgtgctggccccact	10	17	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr2:102644707G>A	ENST00000332549.3	+	9	1279	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Nonsense_Mutation_p.W350*	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	350					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CGTTCTCCTGGGGCATTGTGC	0.522																																					Pancreas(106;189 1628 2302 5133 12295)												0													109	101	104					2																	102644707		2203	4300	6503	SO:0001587	stop_gained	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.1050G>A	2.37:g.102644707G>A	ENSP00000330959:p.Trp350*		D3DVJ5|Q6LCE6|Q9UE68	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II	p.W350*	ENST00000332549.3	37	c.1050	CCDS2054.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465584	0.84425	.	.	ENSG00000115590	ENST00000332549;ENST00000393414	.	.	.	5.88	5.0	0.66597	.	0.685983	0.14231	N	0.332705	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	12.4979	0.55940	0.0:0.0:0.8332:0.1668	.	.	.	.	X	350	.	ENSP00000330959:W350X	W	+	3	0	IL1R2	102011139	1.000000	0.71417	0.934000	0.37439	0.068000	0.16541	5.319000	0.65835	1.467000	0.48044	0.655000	0.94253	TGG	IL1R2	-	prints_Interleukin-1_rcpt_II		0.522	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1	G	NM_004633		102644707	1	no_errors	ENST00000332549	ensembl	human	known	70_37	nonsense	SNP	0.968	A	A	102644707	G	A	102644707	4	1	182	1	0	0	0	0	0	1	0	0	7679	1241	43	4	1080	4	IL1R2	2	102644707	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	91307029	102644707	140554666	27	33936										
MYO7B	4648	genome.wustl.edu	37	chr2	128379604	128379604	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ccggcgacctacggccccttCtgtgccgagcgcctgagacg	13	17	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr2:128379604C>T	ENST00000409816.2	+	26	3527	c.3495C>T	c.(3493-3495)ttC>ttT	p.F1165F	MYO7B_ENST00000428314.1_Silent_p.F1165F|MYO7B_ENST00000389524.4_Silent_p.F1165F|MYO7B_ENST00000409090.1_Silent_p.F18F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1165	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACGGCCCCTTCTGTGCCGAGC	0.652																																																	0													25	25	25					2																	128379604		1752	3692	5444	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3495C>T	2.37:g.128379604C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.F1165	ENST00000409816.2	37	c.3495	CCDS46405.1	2																																																																																			MYO7B	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom		0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128379604	1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	1.000	T	T	128379604	C	T	128379604	2	4	182	1	0	0	0	0	0	0	0	1	10106	912	32	1		1	MYO7B	2	128379604	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	25734897	128379604	114819769	28	33937										
LRP1B	53353	genome.wustl.edu	37	chr2	141625833	141625833	+	Splice_Site	DEL	C	C	-													0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agtctgtccagaaaagaattCtaaaaaaaaaaaaaaaaaaa							TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr2:141625833delC	ENST00000389484.3	-	26	5141		c.e26-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAAAAGAATTCTaaaaaaaaa	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													25	26	26					2																	141625833		2201	4295	6496	SO:0001630	splice_region_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4170-1G>-	2.37:g.141625833delC			Q8WY29|Q8WY30|Q8WY31	Splice_Site	DEL	-	e26-1	ENST00000389484.3	37	c.4170-1	CCDS2182.1	2																																																																																			LRP1B	-	-		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557	Intron	141625833	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	splice_site_del	DEL	1.000	-	-	141625833	C	-	141625833	8	5	182	1	0	1	0	1	0	0	1	0	8978	927	32	0	9894	0	LRP1B	2	141625833	Splice_Site	DEL	C	TCGA-Q1-A6DT-01A-11D-A32I-09	13246229	141625833	101573540	29	33938										
TTN	7273	genome.wustl.edu	37	chr2	179615204	179615204	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gtcattgttataccacgtcaCtataggttgaggatatcctt	8	8	2	1	rs571048846		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr2:179615204C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.V3975M|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCACGTCACTATAGGTTGA	0.338																																																	0													74	74	74					2																	179615204		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2646G>A	2.37:g.179615204C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V3975M	ENST00000591111.1	37	c.11923		2	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252010	0.59212	.	.	ENSG00000155657	ENST00000360870	T	0.76968	-1.06	5.35	5.35	0.76521	.	.	.	.	.	D	0.89901	0.6849	M	0.91459	3.21	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.91615	0.5306	9	0.72032	D	0.01	.	14.6895	0.69072	0.0:0.9279:0.0:0.0721	.	3975	Q8WZ42-6	.	M	3975	ENSP00000354117:V3975M	ENSP00000354117:V3975M	V	-	1	0	TTN	179323449	1.000000	0.71417	0.847000	0.33407	0.564000	0.35744	4.604000	0.61112	2.661000	0.90470	0.655000	0.94253	GTG	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179615204	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.971	T	T	179615204	C	T	179615204	1	4	182	0	1	0	0	0	0	0	0	0	16766	565	20	4		4	TTN	2	179615204	Intron	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	37989371	179615204	63584169	30	33939										
ARMC9	80210	genome.wustl.edu	37	chr2	232100031	232100031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aagatccaggccgactaccaCaatctcattggagtcacagc	8	13	2	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr2:232100031C>T	ENST00000349938.4	+	8	911	c.717C>T	c.(715-717)caC>caT	p.H239H	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	239						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CCGACTACCACAATCTCATTG	0.493																																																	0													96	91	93					2																	232100031		2203	4300	6503	SO:0001819	synonymous_variant	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.717C>T	2.37:g.232100031C>T			Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.H239	ENST00000349938.4	37	c.717	CCDS2484.1	2																																																																																			ARMC9	-	NULL		0.493	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	C	NM_025139		232100031	1	no_errors	ENST00000349938	ensembl	human	known	70_37	silent	SNP	1.000	T	T	232100031	C	T	232100031	2	4	182	1	0	0	0	0	0	0	0	1	959	477	17	4		4	ARMC9	2	232100031	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	52484827	232100031	11099342	31	33940										
PER2	8864	genome.wustl.edu	37	chr2	239180028	239180028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gaacacgcccacatcgtgagGcgccaggaactccacaaact	9	15	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr2:239180028G>A	ENST00000254657.3	-	6	976	c.697C>T	c.(697-699)Cct>Tct	p.P233S	PER2_ENST00000355768.2_Missense_Mutation_p.P233S|PER2_ENST00000440245.1_Missense_Mutation_p.P233S|PER2_ENST00000254658.3_Missense_Mutation_p.P233S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	233	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACATCGTGAGGCGCCAGGAAC	0.527																																																	0													135	117	123					2																	239180028		2203	4300	6503	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.697C>T	2.37:g.239180028G>A	ENSP00000254657:p.Pro233Ser		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.P233S	ENST00000254657.3	37	c.697	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641164	0.87859	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.55588	2.1;0.51;1.29;0.51	5.06	5.06	0.68205	PAS (1);	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.85197	2.74	0.80722	D	1	D;B;D;D	0.89917	0.99;0.449;0.995;1.0	D;B;D;D	0.97110	0.916;0.283;0.972;1.0	T	0.80120	-0.1515	10	0.87932	D	0	-26.4136	16.328	0.82994	0.0:0.0:1.0:0.0	.	233;233;233;233	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	S	233	ENSP00000254657:P233S;ENSP00000254658:P233S;ENSP00000397516:P233S;ENSP00000348013:P233S	ENSP00000254657:P233S	P	-	1	0	PER2	238844767	1.000000	0.71417	0.951000	0.38953	0.875000	0.50365	9.503000	0.97984	2.525000	0.85131	0.655000	0.94253	CCT	PER2	-	smart_PAS		0.527	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	G	NM_022817		239180028	-1	no_errors	ENST00000254657	ensembl	human	known	70_37	missense	SNP	1.000	A	A	239180028	G	A	239180028	3	1	182	1	0	0	0	0	1	0	0	0	11754	1203	42	4	3142	4	PER2	2	239180028	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	7079997	239180028	4019345	32	33941										
ZNF385D	79750	genome.wustl.edu	37	chr3	21465554	21465554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttgtgccttctactgctaatGtgctattaaaagtaatttaa	6	6	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr3:21465554G>A	ENST00000281523.2	-	7	1373	c.855C>T	c.(853-855)caC>caT	p.H285H		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	285						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TACTGCTAATGTGCTATTAAA	0.378																																																	0													118	116	116					3																	21465554		2203	4300	6503	SO:0001819	synonymous_variant	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.855C>T	3.37:g.21465554G>A				Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.H285	ENST00000281523.2	37	c.855	CCDS2636.1	3																																																																																			ZNF385D	-	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like		0.378	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1	G	NM_024697		21465554	-1	no_errors	ENST00000281523	ensembl	human	known	70_37	silent	SNP	1.000	A	A	21465554	G	A	21465554	2	1	182	1	0	0	0	0	0	0	0	1	17908	1368	48	4		4	ZNF385D	3	21465554	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		21465554	176556876	33	33942										
GOLGA4	2803	genome.wustl.edu	37	chr3	37365514	37365514	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aactttctgttctgaaagatCaaacagataaaatgaagcag	7	6	3	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr3:37365514C>G	ENST00000361924.2	+	14	2511	c.2137C>G	c.(2137-2139)Caa>Gaa	p.Q713E	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q735E|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	713	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCTGAAAGATCAAACAGATAA	0.373																																																	0													39	40	40					3																	37365514		2199	4287	6486	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.2137C>G	3.37:g.37365514C>G	ENSP00000354486:p.Gln713Glu		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.Q713E	ENST00000361924.2	37	c.2137	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.223070	0.00283	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.20069	2.1;2.11;2.11	5.22	2.02	0.26589	.	0.741063	0.11117	N	0.597878	T	0.09905	0.0243	N	0.12746	0.255	0.09310	N	1	B;B;B;B	0.09022	0.0;0.001;0.001;0.002	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.30707	-0.9969	10	0.02654	T	1	.	10.4055	0.44254	0.1672:0.2708:0.562:0.0	.	713;713;735;713	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	E	713;735;274;584	ENSP00000354486:Q713E;ENSP00000349305:Q735E;ENSP00000405842:Q584E	ENSP00000349305:Q735E	Q	+	1	0	GOLGA4	37340518	0.964000	0.33143	0.055000	0.19348	0.322000	0.28314	1.227000	0.32576	0.665000	0.31066	-0.211000	0.12701	CAA	GOLGA4	-	NULL		0.373	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	C	NM_002078		37365514	1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	0.067	G	G	37365514	C	G	37365514	3	3	182	1	0	0	0	0	1	0	0	0	6574	827	29	1	2261	1	GOLGA4	3	37365514	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	15899960	37365514	160656916	34	33943										
ROBO1	6091	genome.wustl.edu	37	chr3	78735011	78735011	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gtaattgtgaggtcgccagtCtgggagactgaaaatcggct	14	7	1	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr3:78735011C>G	ENST00000464233.1	-	10	1340	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	ROBO1_ENST00000436010.2_Missense_Mutation_p.Q370H|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q373H|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q373H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	409	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTCGCCAGTCTGGGAGACTG	0.403																																																	0													55	56	55					3																	78735011		1915	4105	6020	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1227G>C	3.37:g.78735011C>G	ENSP00000420321:p.Gln409His		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q409H	ENST00000464233.1	37	c.1227	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888000	0.52014	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.42	5.42	0.78866	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.051456	0.85682	D	0.000000	T	0.70745	0.3259	N	0.25485	0.75	0.51482	D	0.999921	D;D;D;D;D	0.89917	0.985;1.0;0.999;0.999;0.999	P;D;D;D;D	0.91635	0.877;0.984;0.999;0.976;0.983	T	0.68108	-0.5496	9	.	.	.	.	13.8553	0.63522	0.0:0.9265:0.0:0.0735	.	373;409;373;373;370	Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	370;373;409;373;373;409	ENSP00000406043:Q370H;ENSP00000420321:Q409H;ENSP00000420637:Q373H;ENSP00000417992:Q373H	.	Q	-	3	2	ROBO1	78817701	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	2.141000	0.42168	2.700000	0.92200	0.563000	0.77884	CAG	ROBO1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.403	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	C	NM_002941		78735011	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78735011	C	G	78735011	3	3	182	1	0	0	0	0	1	0	0	0	13543	912	32	1	3816	1	ROBO1	3	78735011	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	41369497	78735011	119287419	35	33944										
SLC9A10	285335	genome.wustl.edu	37	chr3	111901081	111901081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aatagattgagaatcaagcaCctctttctttttggccatga	7	8	3	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr3:111901081C>A	ENST00000305815.5	-	21	2800	c.2548G>T	c.(2548-2550)Gtg>Ttg	p.V850L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.V802L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	850					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GAATCAAGCACCTCTTTCTTT	0.333																																																	0													81	89	86					3																	111901081		2203	4299	6502	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2548G>T	3.37:g.111901081C>A	ENSP00000306627:p.Val850Leu		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.V850L	ENST00000305815.5	37	c.2548	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.389603	0.00200	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.75050	-0.9;-0.88	5.81	-8.02	0.01118	.	0.901085	0.09556	N	0.786269	T	0.37019	0.0988	N	0.04090	-0.28	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.40776	-0.9545	10	0.02654	T	1	.	4.0012	0.09580	0.0931:0.5049:0.1702:0.2317	.	802;850	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	850;802	ENSP00000306627:V850L;ENSP00000420688:V802L	ENSP00000306627:V850L	V	-	1	0	SLC9A10	113383771	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.184000	0.03076	-2.115000	0.00831	-1.854000	0.00565	GTG	SLC9C1	-	NULL		0.333	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	C	NM_183061		111901081	-1	no_errors	ENST00000305815	ensembl	human	known	70_37	missense	SNP	0.000	A	A	111901081	C	A	111901081	3	1	182	1	0	0	0	0	1	0	0	0	14740	507	18	4	1021	4	SLC9A10	3	111901081	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	33166070	111901081	86121349	36	33945										
UROC1	131669	genome.wustl.edu	37	chr3	126201220	126201220	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ggcctgctggagcacccgctCgtcctccaccttgtgaggca	12	16	0	1	rs202033813		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr3:126201220C>A	ENST00000290868.2	-	20	2052	c.1999G>T	c.(1999-2001)Gag>Tag	p.E667*	UROC1_ENST00000383579.3_Nonsense_Mutation_p.E727*	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	667					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGCACCCGCTCGTCCTCCACC	0.647																																																	0													62	48	53					3																	126201220		2203	4299	6502	SO:0001587	stop_gained	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1999G>T	3.37:g.126201220C>A	ENSP00000290868:p.Glu667*		E9PE13|Q14C64|Q68CJ7	Nonsense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.E667*	ENST00000290868.2	37	c.1999	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583972	0.65992	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	.	.	.	4.56	3.68	0.42216	.	0.171064	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.7028	7.3131	0.26485	0.0:0.7965:0.0:0.2035	.	.	.	.	X	667;727	.	ENSP00000290868:E667X	E	-	1	0	UROC1	127683910	0.967000	0.33354	0.025000	0.17156	0.018000	0.09664	2.429000	0.44758	1.015000	0.39444	-0.339000	0.08088	GAG	UROC1	-	NULL		0.647	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	C	NM_144639		126201220	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	nonsense	SNP	0.849	A	A	126201220	C	A	126201220	4	1	182	1	0	0	0	0	0	1	0	0	17059	893	31	3	35	3	UROC1	3	126201220	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	14300139	126201220	71821210	37	33946										
ISY1	57461	genome.wustl.edu	37	chr3	128849395	128849395	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tcttagctgtggtcctacctCttgctgcgagggaacaggga	13	10	2	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr3:128849395C>T	ENST00000393295.3	-	10	1065	c.748G>A	c.(748-750)Gag>Aag	p.E250K	ISY1_ENST00000471497.1_5'UTR|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.E250K|ISY1_ENST00000273541.8_Missense_Mutation_p.E272K|ISY1_ENST00000393292.3_Missense_Mutation_p.R251K	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	250					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						GGTCCTACCTCTTGCTGCGAG	0.557																																																	0													106	105	105					3																	128849395		1997	4172	6169	SO:0001583	missense	57461				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.748G>A	3.37:g.128849395C>T	ENSP00000376973:p.Glu250Lys		Q96IL2|Q9BT05	Missense_Mutation	SNP	pfam_Isy1	p.E272K	ENST00000393295.3	37	c.814	CCDS43149.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.082628|5.082628	0.94050|0.94050	.|.	.|.	ENSG00000240682|ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541|ENST00000496163;ENST00000393292	T|.	0.35605|.	1.3|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74359|0.74359	0.3706|0.3706	M|M	0.90425|0.90425	3.115|3.115	0.27161|0.27161	N|N	0.961159|0.961159	D;D;D|.	0.71674|.	0.995;0.996;0.998|.	D;D;D|.	0.71184|.	0.948;0.96;0.972|.	T|T	0.71712|0.71712	-0.4510|-0.4510	10|5	0.72032|.	D|.	0.01|.	.|.	15.0882|15.0882	0.72170|0.72170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	272;250;250|.	Q9ULR0-2;Q9ULR0;Q9ULR0-1|.	.;ISY1_HUMAN;.|.	K|K	250;250;272|147;251	ENSP00000273541:E272K|.	ENSP00000273541:E272K|.	E|R	-|-	1|2	0|0	ISY1|ISY1	130332085|130332085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.792000|0.792000	0.44763|0.44763	6.265000|6.265000	0.72534|0.72534	2.629000|2.629000	0.89072|0.89072	0.484000|0.484000	0.47621|0.47621	GAG|AGA	ISY1	-	pfam_Isy1		0.557	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISY1	HGNC	protein_coding	OTTHUMT00000267856.1	C	NM_020701		128849395	-1	no_errors	ENST00000273541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128849395	C	T	128849395	3	4	182	1	0	0	0	0	1	0	0	0	7886	922	32	1	117	1	ISY1	3	128849395	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	2648175	128849395	69173035	38	33947										
LRCH3	84859	genome.wustl.edu	37	chr3	197547201	197547201	+	Silent	SNP	G	G	A													0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	atcttttcgaaataggatgtGagctgcaatgaaattcaaac							TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr3:197547201G>A	ENST00000425562.2	+	4	540	c.540G>A	c.(538-540)gtG>gtA	p.V180V	LRCH3_ENST00000438796.2_Silent_p.V180V|LRCH3_ENST00000414675.2_Silent_p.V180V|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000334859.4_Silent_p.V180V			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	180						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AATAGGATGTGAGCTGCAATG	0.353																																																	0													98	97	97					3																	197547201		2203	4300	6503	SO:0001819	synonymous_variant	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.540G>A	3.37:g.197547201G>A			B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	NULL	p.E90K	ENST00000425562.2	37	c.268		3																																																																																			LRCH3	-	NULL		0.353	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	G	NM_032773		197547201	1	no_errors	ENST00000443727	ensembl	human	known	70_37	missense	SNP	0.997	A	A	197547201	G	A	197547201	2	1	182	1	0	0	0	0	0	0	0	1	8957	1277	45	1		1	LRCH3	3	197547201	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	68697806	197547201	475229	39	33948	219	2								
LRCH3	84859	genome.wustl.edu	37	chr3	197547211	197547211	+	Missense_Mutation	SNP	G	G	A													0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aataggatgtgagctgcaatGaaattcaaactataccttcc							TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr3:197547211G>A	ENST00000425562.2	+	4	550	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	LRCH3_ENST00000438796.2_Missense_Mutation_p.E184K|LRCH3_ENST00000493726.1_3'UTR|LRCH3_ENST00000414675.2_Missense_Mutation_p.E184K|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.E184K			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	184						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GAGCTGCAATGAAATTCAAAC	0.338																																																	0													103	103	103					3																	197547211		2203	4300	6503	SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.550G>A	3.37:g.197547211G>A	ENSP00000393579:p.Glu184Lys		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.E184K	ENST00000425562.2	37	c.550		3	.	.	.	.	.	.	.	.	.	.	G	34	5.378307	0.95945	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	N	0.13235	0.315	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.991	D;D;D	0.91635	0.992;0.999;0.966	T	0.67070	-0.5763	10	0.87932	D	0	-18.6597	19.2799	0.94048	0.0:0.0:1.0:0.0	.	184;184;184	B4E0T7;Q96II8-2;Q96II8-3	.;.;.	K	184	ENSP00000399751:E184K;ENSP00000394965:E184K;ENSP00000334375:E184K;ENSP00000393579:E184K	ENSP00000334375:E184K	E	+	1	0	LRCH3	199031608	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.179000	0.94861	2.644000	0.89710	0.555000	0.69702	GAA	LRCH3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.338	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	G	NM_032773		197547211	1	no_errors	ENST00000438796	ensembl	human	known	70_37	missense	SNP	1.000	A	A	197547211	G	A	197547211	3	1	182	1	0	0	0	0	1	0	0	0	8957	1291	45	1	564	1	LRCH3	3	197547211	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	10	197547211	475219	40	33949	219	2								
SLC4A4	8671	genome.wustl.edu	37	chr4	72363244	72363245	+	Frame_Shift_Ins	INS	-	-	T													0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	atactacctttgactgggcaINStttttgtcgaagaaggagtg					rs202188375		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr4:72363244_72363245insT	ENST00000264485.5	+	16	2118_2119	c.2001_2002insT	c.(2002-2004)tttfs	p.F668fs	SLC4A4_ENST00000351898.6_Frame_Shift_Ins_p.F668fs|SLC4A4_ENST00000340595.3_Frame_Shift_Ins_p.F624fs|SLC4A4_ENST00000425175.1_Frame_Shift_Ins_p.F668fs	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	668					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTGACTGGGCATTTTTGTCGAA	0.356																																																	0																																										SO:0001589	frameshift_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2006dupT	4.37:g.72363249_72363249dupT	ENSP00000264485:p.Phe668fs		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Frame_Shift_Ins	INS	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L668fs	ENST00000264485.5	37	c.2001_2002	CCDS43236.1	4																																																																																			SLC4A4	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.356	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	-	NM_003759		72363245	1	no_errors	ENST00000425175	ensembl	human	known	70_37	frame_shift_ins	INS	0.007:0.005	T	T	72363245	-	T	72363244	7	5	182	1	0	1	1	0	0	0	0	0	14686	204	8	0	2180	0	SLC4A4	4	72363244	Frame_Shift_Ins	INS	-	TCGA-Q1-A6DT-01A-11D-A32I-09		72363244	118791032	41	33950										
GK2	2712	genome.wustl.edu	37	chr4	80328008	80328008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcagttgtttcaggcataaaGggttttattactggaatatg	11	4	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr4:80328008G>A	ENST00000358842.3	-	1	1364	c.1347C>T	c.(1345-1347)ccC>ccT	p.P449P		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CAGGCATAAAGGGTTTTATTA	0.463																																																	0													94	94	94					4																	80328008		2203	4300	6503	SO:0001819	synonymous_variant	2712			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1347C>T	4.37:g.80328008G>A			Q7Z4Q4	Silent	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.P449	ENST00000358842.3	37	c.1347	CCDS3585.1	4																																																																																			GK2	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin		0.463	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	G	NM_033214		80328008	-1	no_errors	ENST00000358842	ensembl	human	known	70_37	silent	SNP	0.010	A	A	80328008	G	A	80328008	2	1	182	1	0	0	0	0	0	0	0	1	6440	987	35	4		4	GK2	4	80328008	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	7964764	80328008	110826268	42	33951										
TSPAN5	10098	genome.wustl.edu	37	chr4	99407914	99407914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgagaaggaaagtgttttccCgtagcgctccaatgcaccct	10	11	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr4:99407914C>T	ENST00000305798.3	-	3	656	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	TSPAN5_ENST00000505184.1_Missense_Mutation_p.R14Q|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	85					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.R85L(1)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AGTGTTTTCCCGTAGCGCTCC	0.483																																																	1	Substitution - Missense(1)	lung(1)											146	134	138					4																	99407914		2203	4300	6503	SO:0001583	missense	10098				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"Tetraspanins"	17753	protein-coding gene	gene with protein product		613136	"transmembrane 4 superfamily member 9"	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.254G>A	4.37:g.99407914C>T	ENSP00000307701:p.Arg85Gln		B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.R85Q	ENST00000305798.3	37	c.254	CCDS3646.1	4	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764461	0.69878	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287;ENST00000511651	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.51	5.51	0.81932	Tetraspanin, conserved site (1);	0.052518	0.64402	D	0.000001	D	0.89687	0.6787	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.90021	0.4128	10	0.87932	D	0	.	19.614	0.95622	0.0:1.0:0.0:0.0	.	85	P62079	TSN5_HUMAN	Q	85;14;14;14	ENSP00000307701:R85Q;ENSP00000423916:R14Q;ENSP00000423504:R14Q;ENSP00000426248:R14Q	ENSP00000307701:R85Q	R	-	2	0	TSPAN5	99626937	1.000000	0.71417	0.986000	0.45419	0.970000	0.65996	7.495000	0.81514	2.873000	0.98535	0.561000	0.74099	CGG	TSPAN5	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.483	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN5	HGNC	protein_coding	OTTHUMT00000253641.2	C	NM_005723		99407914	-1	no_errors	ENST00000305798	ensembl	human	known	70_37	missense	SNP	0.998	T	T	99407914	C	T	99407914	3	4	182	1	0	0	0	0	1	0	0	0	16681	652	23	2	576	2	TSPAN5	4	99407914	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	19079906	99407914	91746362	43	33952										
SLC39A8	64116	genome.wustl.edu	37	chr4	103180638	103180638	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tatccaaagtaaatgaagttGagatttgatgtcatcagtag	9	4	2	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr4:103180638G>C	ENST00000394833.2	-	0	3238				SLC39A8_ENST00000424970.2_Missense_Mutation_p.Q434E	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8						transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AAATGAAGTTGAGATTTGATG	0.333																																																	0													212	174	185					4																	103180638		692	1591	2283	SO:0001628	intergenic_variant	64116				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120		4.37:g.103180638G>C			B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	pfam_ZIP	p.Q434E	ENST00000394833.2	37	c.1300	CCDS3656.1	4	.	.	.	.	.	.	.	.	.	.	G	5.953	0.359753	0.11239	.	.	ENSG00000138821	ENST00000424970	T	0.68479	-0.33	2.29	-1.83	0.07833	.	.	.	.	.	T	0.44180	0.1281	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.17048	-1.0382	8	0.29301	T	0.29	.	3.8453	0.08933	0.2716:0.3978:0.3306:0.0	.	434	B4E2H3	.	E	434	ENSP00000394548:Q434E	ENSP00000394548:Q434E	Q	-	1	0	SLC39A8	103399661	0.001000	0.12720	0.010000	0.14722	0.069000	0.16628	-1.169000	0.03120	-0.585000	0.05905	-0.676000	0.03789	CAA	SLC39A8	-	NULL		0.333	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A8	HGNC	protein_coding	OTTHUMT00000253798.1	G	NM_022154		103180638	-1	no_errors	ENST00000424970	ensembl	human	known	70_37	missense	SNP	0.015	C	C	103180638	G	C	103180638	1	2	182	0	1	0	0	0	0	0	0	0	14654	1299	45	1		1	SLC39A8	4	103180638	IGR	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	3772724	103180638	87973638	44	33953										
NDST3	9348	genome.wustl.edu	37	chr4	119158287	119158287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttacttccactcagaggaagCccctaaaagagctgcttctc	7	13	2	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr4:119158287C>T	ENST00000296499.5	+	10	2433	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V	NDST3_ENST00000433996.2_3'UTR	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	677	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCAGAGGAAGCCCCTAAAAGA	0.438																																																	0													80	78	79					4																	119158287		2203	4300	6503	SO:0001583	missense	9348			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2030C>T	4.37:g.119158287C>T	ENSP00000296499:p.Ala677Val		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.A677V	ENST00000296499.5	37	c.2030	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528544	0.44969	.	.	ENSG00000164100	ENST00000296499	T	0.57273	0.41	6.03	6.03	0.97812	Sulfotransferase domain (1);	0.112160	0.64402	D	0.000011	T	0.33147	0.0853	N	0.16201	0.385	0.80722	D	1	B	0.29627	0.252	B	0.26693	0.072	T	0.19386	-1.0307	10	0.11794	T	0.64	.	13.7229	0.62740	0.0:0.9301:0.0:0.0699	.	677	O95803	NDST3_HUMAN	V	677	ENSP00000296499:A677V	ENSP00000296499:A677V	A	+	2	0	NDST3	119377735	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.650000	0.54424	2.854000	0.98071	0.655000	0.94253	GCC	NDST3	-	pfam_Sulfotransferase_dom		0.438	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	C	NM_004784		119158287	1	no_errors	ENST00000296499	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119158287	C	T	119158287	3	4	182	1	0	0	0	0	1	0	0	0	10281	739	26	4	2064	4	NDST3	4	119158287	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	15977649	119158287	71995989	45	33954										
SPRY1	10252	genome.wustl.edu	37	chr4	124323415	124323415	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gaatatggaacctgcatgtgCttagtcaagggcatcttcta	10	8	3	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr4:124323415C>G	ENST00000394339.2	+	2	1009	c.669C>G	c.(667-669)tgC>tgG	p.C223W	SPRY1_ENST00000339241.1_Missense_Mutation_p.C223W	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	223	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CCTGCATGTGCTTAGTCAAGG	0.507																																																	0													256	212	227					4																	124323415		2203	4300	6503	SO:0001583	missense	10252			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.669C>G	4.37:g.124323415C>G	ENSP00000377871:p.Cys223Trp		D3DNX6|Q6PNE0	Missense_Mutation	SNP	pfam_Sprouty	p.C223W	ENST00000394339.2	37	c.669	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642906	0.47153	.	.	ENSG00000164056	ENST00000339241;ENST00000394339	T;T	0.63744	-0.06;-0.06	5.06	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	L	0.43646	1.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63800	-0.6555	9	.	.	.	-13.2995	8.0708	0.30689	0.0:0.7423:0.0:0.2577	.	223	O43609	SPY1_HUMAN	W	223	ENSP00000343785:C223W;ENSP00000377871:C223W	.	C	+	3	2	SPRY1	124542865	0.998000	0.40836	0.980000	0.43619	0.998000	0.95712	1.346000	0.33964	0.668000	0.31126	0.561000	0.74099	TGC	SPRY1	-	pfam_Sprouty		0.507	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	C			124323415	1	no_errors	ENST00000339241	ensembl	human	known	70_37	missense	SNP	1.000	G	G	124323415	C	G	124323415	3	3	182	1	0	0	0	0	1	0	0	0	15135	805	28	4	671	4	SPRY1	4	124323415	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	5165128	124323415	66830861	46	33955										
PCDH10	57575	genome.wustl.edu	37	chr4	134071436	134071436	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctgggtctggacattacaaaActttcggctcgcgggtttca	11	10	2	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr4:134071436A>C	ENST00000264360.5	+	1	967	c.141A>C	c.(139-141)aaA>aaC	p.K47N	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACATTACAAAACTTTCGGCTC	0.517																																																	0													111	110	110					4																	134071436		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.141A>C	4.37:g.134071436A>C	ENSP00000264360:p.Lys47Asn		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K47N	ENST00000264360.5	37	c.141	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	A	16.43	3.122431	0.56613	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.28255	1.62	4.77	4.77	0.60923	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.48286	D	0.000187	T	0.48978	0.1530	L	0.49256	1.55	0.80722	D	1	D;B	0.89917	1.0;0.417	D;B	0.87578	0.998;0.345	T	0.46830	-0.9163	10	0.51188	T	0.08	.	14.1058	0.65088	1.0:0.0:0.0:0.0	.	47;47	Q9P2E7;Q96SF0	PCD10_HUMAN;.	N	47	ENSP00000264360:K47N	ENSP00000264360:K47N	K	+	3	2	PCDH10	134290886	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.666000	0.54540	1.992000	0.58205	0.454000	0.30748	AAA	PCDH10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin		0.517	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	A	NM_032961		134071436	1	no_errors	ENST00000264360	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134071436	A	C	134071436	3	2	182	1	0	0	0	0	1	0	0	0	11531	40	2	5	143	5	PCDH10	4	134071436	Missense_Mutation	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	9748021	134071436	57082840	47	33956										
POU4F2	5458	genome.wustl.edu	37	chr4	147560396	147560396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	actgcacagcacctcgccggGctcctcggctcccatcgcgc	10	20	0	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr4:147560396G>T	ENST00000281321.3	+	1	352	c.104G>T	c.(103-105)gGc>gTc	p.G35V	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	35					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACCTCGCCGGGCTCCTCGGCT	0.726																																																	0													10	11	10					4																	147560396		2148	4213	6361	SO:0001583	missense	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.104G>T	4.37:g.147560396G>T	ENSP00000281321:p.Gly35Val		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.G35V	ENST00000281321.3	37	c.104	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472744	0.43942	.	.	ENSG00000151615	ENST00000281321	D	0.82893	-1.66	4.49	4.49	0.54785	.	0.715314	0.13098	N	0.414012	T	0.66858	0.2832	N	0.08118	0	0.50039	D	0.999847	B	0.12630	0.006	B	0.14023	0.01	T	0.62905	-0.6755	10	0.44086	T	0.13	.	8.5258	0.33304	0.1064:0.0:0.8936:0.0	.	35	Q12837	PO4F2_HUMAN	V	35	ENSP00000281321:G35V	ENSP00000281321:G35V	G	+	2	0	POU4F2	147779846	1.000000	0.71417	0.992000	0.48379	0.795000	0.44927	2.245000	0.43133	2.045000	0.60652	0.561000	0.74099	GGC	POU4F2	-	NULL		0.726	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	G	NM_004575		147560396	1	no_errors	ENST00000281321	ensembl	human	known	70_37	missense	SNP	0.994	T	T	147560396	G	T	147560396	3	4	182	1	0	0	0	0	1	0	0	0	12303	1203	42	4	106	4	POU4F2	4	147560396	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	13488960	147560396	43593880	48	33957										
DDX60	55601	genome.wustl.edu	37	chr4	169167643	169167643	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	caggaccagggttatgctgaGagggaagtgtcctctcagct	14	9	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr4:169167643G>A	ENST00000393743.3	-	30	4381	c.4090C>T	c.(4090-4092)Ctc>Ttc	p.L1364F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1364	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTATGCTGAGAGGGAAGTGT	0.488																																																	0													95	93	94					4																	169167643		2203	4300	6503	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4090C>T	4.37:g.169167643G>A	ENSP00000377344:p.Leu1364Phe		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1364F	ENST00000393743.3	37	c.4090	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	G	2.715	-0.267923	0.05754	.	.	ENSG00000137628	ENST00000393743	T	0.24538	1.85	5.83	-4.52	0.03472	Helicase, C-terminal (1);	0.564132	0.16039	N	0.232487	T	0.21881	0.0527	M	0.83384	2.64	0.09310	N	1	P	0.34934	0.476	B	0.31101	0.124	T	0.08391	-1.0724	10	0.59425	D	0.04	.	3.1114	0.06360	0.5008:0.0966:0.2188:0.1837	.	1364	Q8IY21	DDX60_HUMAN	F	1364	ENSP00000377344:L1364F	ENSP00000377344:L1364F	L	-	1	0	DDX60	169404218	0.007000	0.16637	0.000000	0.03702	0.202000	0.24057	-0.199000	0.09491	-1.135000	0.02895	0.563000	0.77884	CTC	DDX60	-	pfscan_Helicase_C		0.488	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	G	NM_017631		169167643	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.001	A	A	169167643	G	A	169167643	3	1	182	1	0	0	0	0	1	0	0	0	4383	942	33	1	1084	1	DDX60	4	169167643	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	21607247	169167643	21986633	49	33958										
IRX2	153572	genome.wustl.edu	37	chr5	2749785	2749785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agagtggccgtggcgtcccgCgtggcgttcttgcggtacgc	17	12	1	1	rs61742405	byFrequency	TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr5:2749785C>T	ENST00000382611.6	-	2	614	c.366G>A	c.(364-366)acG>acA	p.T122T	C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000302057.5_Silent_p.T122T|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	122					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T122T(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGGCGTCCCGCGTGGCGTTCT	0.652																																																	2	Substitution - coding silent(2)	lung(2)											126	99	108					5																	2749785		2203	4300	6503	SO:0001819	synonymous_variant	153572			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.366G>A	5.37:g.2749785C>T			Q68A19|Q7Z2I7	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.T122	ENST00000382611.6	37	c.366	CCDS3868.1	5																																																																																			IRX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.652	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX2	HGNC	protein_coding	OTTHUMT00000206749.2	C			2749785	-1	no_errors	ENST00000302057	ensembl	human	known	70_37	silent	SNP	0.996	T	T	2749785	C	T	2749785	2	4	182	1	0	0	0	0	0	0	0	1	7864	755	27	2		2	IRX2	5	2749785	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		2749785	178165475	50	33959										
PRDM9	56979	genome.wustl.edu	37	chr5	23521142	23521142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cacattaaagggaatgcccaAggcgtcattcagtaatgaat	9	8	2	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr5:23521142A>G	ENST00000296682.3	+	6	544	c.362A>G	c.(361-363)aAg>aGg	p.K121R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	121					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAATGCCCAAGGCGTCATTC	0.393										HNSCC(3;0.000094)																																							0													77	73	74					5																	23521142		1874	4106	5980	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.362A>G	5.37:g.23521142A>G	ENSP00000296682:p.Lys121Arg		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K121R	ENST00000296682.3	37	c.362	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.555063	0.00918	.	.	ENSG00000164256	ENST00000296682	T	0.09630	2.96	3.12	-2.18	0.07037	.	.	.	.	.	T	0.03783	0.0107	N	0.11698	0.16	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43621	-0.9380	9	0.02654	T	1	-0.8349	4.0841	0.09939	0.4082:0.1805:0.4113:0.0	.	121	Q9NQV7	PRDM9_HUMAN	R	121	ENSP00000296682:K121R	ENSP00000296682:K121R	K	+	2	0	PRDM9	23556899	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.705000	0.05052	-0.510000	0.06523	-0.446000	0.05623	AAG	PRDM9	-	NULL		0.393	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	A	NM_020227		23521142	1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	0.000	G	G	23521142	A	G	23521142	3	3	182	1	0	0	0	0	1	0	0	0	12490	72	3	5	380	5	PRDM9	5	23521142	Missense_Mutation	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	20771357	23521142	157394118	51	33960										
RNASEN	29102	genome.wustl.edu	37	chr5	31526312	31526313	+	Frame_Shift_Del	DEL	CT	CT	-													0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gccgatccagggaccgatgcCtctcacctcgcccatgactg							TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr5:31526312_31526313delCT	ENST00000511367.2	-	4	971_972	c.727_728delAG	c.(727-729)aggfs	p.R243fs	DROSHA_ENST00000513349.1_Frame_Shift_Del_p.R243fs|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.R243fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.R243fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	243	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGACCGATGCCTCTCACCTCGC	0.574																																																	0																																										SO:0001589	frameshift_variant	29102			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.727_728delAG	5.37:g.31526314_31526315delCT	ENSP00000425979:p.Arg243fs		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Frame_Shift_Del	DEL	pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.R243fs	ENST00000511367.2	37	c.728_727	CCDS47195.1	5																																																																																			DROSHA	-	NULL		0.574	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	CT	NM_013235		31526313	-1	no_errors	ENST00000344624	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.998	-	-	31526313	CT	-	31526312	7	5	182	1	0	1	0	1	0	0	0	0	13447	681	24	0	3524	0	RNASEN	5	31526312	Frame_Shift_Del	DEL	CT	TCGA-Q1-A6DT-01A-11D-A32I-09	8005170	31526312	149388948	52	33961										
PPIP5K2	23262	genome.wustl.edu	37	chr5	102491616	102491616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	atcattttatttttcaggtaTggtcatttttctggaataaa	6	4	4	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr5:102491616T>C	ENST00000358359.3	+	14	1916	c.1407T>C	c.(1405-1407)taT>taC	p.Y469Y	PPIP5K2_ENST00000321521.9_Silent_p.Y469Y|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Silent_p.Y469Y	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	469					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTTCAGGTATGGTCATTTTT	0.343																																																	0													191	188	189					5																	102491616		2203	4300	6503	SO:0001819	synonymous_variant	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1407T>C	5.37:g.102491616T>C			A1NI53|A6NGS8|Q8TB50	Silent	SNP	pfam_His_Pase_superF_clade-2	p.Y469	ENST00000358359.3	37	c.1407		5																																																																																			PPIP5K2	-	pfam_His_Pase_superF_clade-2		0.343	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	T	NM_015216		102491616	1	no_errors	ENST00000358359	ensembl	human	known	70_37	silent	SNP	1.000	C	C	102491616	T	C	102491616	2	2	182	1	0	0	0	0	0	0	0	1	12360	1471	51	5		5	PPIP5K2	5	102491616	Silent	SNP	T	TCGA-Q1-A6DT-01A-11D-A32I-09	70965304	102491616	78423644	53	33962										
DBN1	1627	genome.wustl.edu	37	chr5	176887655	176887655	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cagctctcacctccacctccGactctgacttcttcatgtgg	6	17	4	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr5:176887655G>C	ENST00000309007.5	-	9	1040	c.821C>G	c.(820-822)tCg>tGg	p.S274W	DBN1_ENST00000292385.5_Missense_Mutation_p.S276W|DBN1_ENST00000393565.1_Missense_Mutation_p.S274W|DBN1_ENST00000393563.4_Missense_Mutation_p.S6W|DBN1_ENST00000512501.1_Missense_Mutation_p.S6W	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	274					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCACCTCCGACTCTGACTT	0.602																																																	0													154	123	134					5																	176887655		2203	4300	6503	SO:0001583	missense	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.821C>G	5.37:g.176887655G>C	ENSP00000308532:p.Ser274Trp		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.S276W	ENST00000309007.5	37	c.827	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450596	0.63290	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563;ENST00000477391	T;T;T;T;T	0.56103	0.8;0.8;1.43;0.48;0.73	5.07	5.07	0.68467	.	0.391208	0.25854	N	0.027875	T	0.67896	0.2942	L	0.59436	1.845	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	T	0.70572	-0.4835	10	0.87932	D	0	-9.2116	13.0419	0.58904	0.0:0.1623:0.8377:0.0	.	224;274;274;276	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	W	274;276;274;6;6;273	ENSP00000308532:S274W;ENSP00000292385:S276W;ENSP00000377195:S274W;ENSP00000423208:S6W;ENSP00000377193:S6W	ENSP00000292385:S276W	S	-	2	0	DBN1	176820261	1.000000	0.71417	0.461000	0.27105	0.883000	0.51084	4.202000	0.58446	2.368000	0.80403	0.561000	0.74099	TCG	DBN1	-	NULL		0.602	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	G	NM_080881		176887655	-1	no_errors	ENST00000292385	ensembl	human	known	70_37	missense	SNP	0.751	C	C	176887655	G	C	176887655	3	2	182	1	0	0	0	0	1	0	0	0	4257	1059	37	1	1152	1	DBN1	5	176887655	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	74396039	176887655	4027605	54	33963										
PRPF4B	8899	genome.wustl.edu	37	chr6	4037792	4037792	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tccaagaagaagaagcagatCtcctcggagaaggtaaagac	11	8	1	6			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:4037792C>T	ENST00000337659.6	+	3	1500	c.1400C>T	c.(1399-1401)tCt>tTt	p.S467F	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S453F	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	467	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGAAGCAGATCTCCTCGGAGA	0.438																																																	0													93	76	81					6																	4037792		2203	4300	6503	SO:0001583	missense	8899			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1400C>T	6.37:g.4037792C>T	ENSP00000337194:p.Ser467Phe		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S467F	ENST00000337659.6	37	c.1400	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204667	0.58234	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.71103	-0.53;-0.54	5.09	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.56630	0.1998	M	0.61703	1.905	0.58432	D	0.999996	B	0.09022	0.002	B	0.06405	0.002	T	0.63871	-0.6539	10	0.62326	D	0.03	.	13.9078	0.63848	0.0:0.9247:0.0:0.0753	.	467	Q13523	PRP4B_HUMAN	F	467;453	ENSP00000337194:S467F;ENSP00000439331:S453F	ENSP00000337194:S467F	S	+	2	0	PRPF4B	3982791	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	3.599000	0.54045	2.342000	0.79632	0.561000	0.74099	TCT	PRPF4B	-	NULL		0.438	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	C			4037792	1	no_errors	ENST00000337659	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4037792	C	T	4037792	3	4	182	1	0	0	0	0	1	0	0	0	12600	913	32	1	1410	1	PRPF4B	6	4037792	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		4037792	167077275	55	33964										
ZKSCAN3	80317	genome.wustl.edu	37	chr6	28327424	28327424	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agtctacagaagaccagatgGagcttctggtcataaaggtg	12	7	3	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:28327424G>T	ENST00000377255.3	+	3	358	c.61G>T	c.(61-63)Gag>Tag	p.E21*	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Nonsense_Mutation_p.E21*	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	21					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGACCAGATGGAGCTTCTGGT	0.552																																																	0													88	91	90					6																	28327424		2203	4300	6503	SO:0001587	stop_gained	80317			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.61G>T	6.37:g.28327424G>T	ENSP00000366465:p.Glu21*		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E21*	ENST00000377255.3	37	c.61	CCDS4650.1	6	.	.	.	.	.	.	.	.	.	.	.	21.3	4.126049	0.77436	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	.	.	.	3.83	-0.185	0.13276	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.0628	0.06205	0.4128:0.0:0.3977:0.1896	.	.	.	.	X	21	.	ENSP00000252211:E21X	E	+	1	0	ZKSCAN3	28435403	0.001000	0.12720	0.000000	0.03702	0.126000	0.20510	0.751000	0.26348	0.055000	0.16094	-0.262000	0.10625	GAG	ZKSCAN3	-	NULL		0.552	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN3	HGNC	protein_coding	OTTHUMT00000040189.3	G	NM_024493		28327424	1	no_errors	ENST00000252211	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	28327424	G	T	28327424	4	4	182	1	0	0	0	0	0	1	0	0	17718	1175	41	3	63	3	ZKSCAN3	6	28327424	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	24289632	28327424	142787643	56	33965										
MAS1L	116511	genome.wustl.edu	37	chr6	29454693	29454693	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcccgttggagaatcactctGagagattccttcagcctttt	9	11	3	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:29454693G>C	ENST00000377127.3	-	1	1045	c.987C>G	c.(985-987)ctC>ctG	p.L329L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	329					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GAATCACTCTGAGAGATTCCT	0.473																																					NSCLC(153;755 1987 3859 11251 32945)												0													114	119	117					6																	29454693		2203	4300	6503	SO:0001819	synonymous_variant	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.987C>G	6.37:g.29454693G>C			Q5SUN5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L329	ENST00000377127.3	37	c.987	CCDS4661.1	6																																																																																			MAS1L	-	NULL		0.473	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	G	NM_052967		29454693	-1	no_errors	ENST00000377127	ensembl	human	known	70_37	silent	SNP	0.001	C	C	29454693	G	C	29454693	2	2	182	1	0	0	0	0	0	0	0	1	9344	1277	45	1		1	MAS1L	6	29454693	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	1127269	29454693	141660374	57	33966										
TNXB	7148	genome.wustl.edu	37	chr6	32053854	32053854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cgtcgaggggcctgagggagGaggctcatcggtagtcccca	17	11	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:32053854G>T	ENST00000375244.3	-	7	3022	c.2821C>A	c.(2821-2823)Cct>Act	p.P941T	TNXB_ENST00000375247.2_Missense_Mutation_p.P941T			P22105	TENX_HUMAN	tenascin XB	1030	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGAGGGAGGAGGCTCATCG	0.622																																																	0													8	10	9					6																	32053854		1201	2505	3706	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2821C>A	6.37:g.32053854G>T	ENSP00000364393:p.Pro941Thr		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.P941T	ENST00000375244.3	37	c.2821		6	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866281	0.51588	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.54675	0.72;0.56	3.82	3.82	0.43975	.	.	.	.	.	T	0.30792	0.0776	L	0.29908	0.895	0.26612	N	0.972823	P	0.36616	0.561	B	0.43916	0.436	T	0.14924	-1.0455	9	0.37606	T	0.19	.	11.1378	0.48386	0.0:0.0:1.0:0.0	.	941	P22105-3	.	T	941	ENSP00000364393:P941T;ENSP00000364396:P941T	ENSP00000364393:P941T	P	-	1	0	TNXB	32161832	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.631000	0.61304	1.980000	0.57719	0.558000	0.71614	CCT	TNXB	-	NULL		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	G	NM_019105		32053854	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32053854	G	T	32053854	3	4	182	1	0	0	0	0	1	0	0	0	16376	1174	41	3	12044	3	TNXB	6	32053854	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2599161	32053854	139061213	58	33967										
KIFC1	3833	genome.wustl.edu	37	chr6	33366154	33366154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	acagtgccacagacacaaggCcagaccacaggtgggctctc	11	14	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:33366154C>T	ENST00000428849.2	+	3	690	c.240C>T	c.(238-240)ggC>ggT	p.G80G		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	80					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AGACACAAGGCCAGACCACAG	0.473																																																	0													89	86	87					6																	33366154		2203	4300	6503	SO:0001819	synonymous_variant	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.240C>T	6.37:g.33366154C>T			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G80	ENST00000428849.2	37	c.240	CCDS34430.1	6																																																																																			KIFC1	-	NULL		0.473	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	C	NM_002263		33366154	1	no_errors	ENST00000428849	ensembl	human	known	70_37	silent	SNP	0.209	T	T	33366154	C	T	33366154	2	4	182	1	0	0	0	0	0	0	0	1	8332	726	26	4		4	KIFC1	6	33366154	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	1312300	33366154	137748913	59	33968										
DNAH8	1769	genome.wustl.edu	37	chr6	38830105	38830105	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcatgaacatgggaggtgctCccgcaggacctgctggcact	14	12	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:38830105C>G	ENST00000359357.3	+	42	5784	c.5530C>G	c.(5530-5532)Ccc>Gcc	p.P1844A	DNAH8_ENST00000441566.1_Missense_Mutation_p.P1844A|DNAH8_ENST00000449981.2_Missense_Mutation_p.P2061A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1844	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAGGTGCTCCCGCAGGACC	0.463																																																	0													128	122	124					6																	38830105		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5530C>G	6.37:g.38830105C>G	ENSP00000352312:p.Pro1844Ala		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.P1844A	ENST00000359357.3	37	c.5530		6	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980034	0.92982	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.15139	2.45;2.45;2.45	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64373	-0.6423	10	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1844	Q96JB1	DYH8_HUMAN	A	2049;2049;1844;1844	ENSP00000333363:P2049A;ENSP00000352312:P1844A;ENSP00000402294:P1844A	ENSP00000333363:P2049A	P	+	1	0	DNAH8	38938083	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.851000	0.69481	2.873000	0.98535	0.563000	0.77884	CCC	DNAH8	-	smart_AAA+_ATPase		0.463	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38830105	1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38830105	C	G	38830105	3	3	182	1	0	0	0	0	1	0	0	0	4617	855	30	1	5688	1	DNAH8	6	38830105	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	5463951	38830105	132284962	60	33969										
EYS	346007	genome.wustl.edu	37	chr6	66005999	66005999	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	caatctgccaatgtaactaaGagaacagctgcatctgaaac	7	10	2	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:66005999G>C	ENST00000370621.3	-	12	2306	c.1780C>G	c.(1780-1782)Ctt>Gtt	p.L594V	EYS_ENST00000503581.1_Missense_Mutation_p.L594V|EYS_ENST00000370616.2_Missense_Mutation_p.L594V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	594	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATGTAACTAAGAGAACAGCTG	0.348																																																	0													95	71	79					6																	66005999		692	1590	2282	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1780C>G	6.37:g.66005999G>C	ENSP00000359655:p.Leu594Val		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L594V	ENST00000370621.3	37	c.1780		6	.	.	.	.	.	.	.	.	.	.	.	2.084	-0.410106	0.04799	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.19938	2.11;2.11;2.11	4.89	2.06	0.26882	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	P	0.45957	0.869	P	0.45276	0.475	T	0.24548	-1.0157	9	0.37606	T	0.19	.	5.7216	0.17990	0.1786:0.1599:0.6615:0.0	.	594	Q5T1H1-1	.	V	594	ENSP00000424243:L594V;ENSP00000359655:L594V;ENSP00000359650:L594V	ENSP00000359650:L594V	L	-	1	0	EYS	66062720	0.007000	0.16637	0.000000	0.03702	0.232000	0.25224	0.939000	0.28978	0.118000	0.18165	0.591000	0.81541	CTT	EYS	-	smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom		0.348	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	G	XM_294050		66005999	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.002	C	C	66005999	G	C	66005999	3	2	182	1	0	0	0	0	1	0	0	0	5344	942	33	1	7627	1	EYS	6	66005999	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	27175894	66005999	105109068	61	33970										
BAI3	577	genome.wustl.edu	37	chr6	70070940	70070940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aacccacaggtttgcacatgCccatgagtatgaatgagctt	9	10	0	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:70070940C>A	ENST00000370598.1	+	29	4596	c.3775C>A	c.(3775-3777)Ccc>Acc	p.P1259T	BAI3_ENST00000546190.1_Missense_Mutation_p.P223T|BAI3_ENST00000238918.8_Missense_Mutation_p.P465T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1259					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGCACATGCCCATGAGTAT	0.413																																																	0													91	82	85					6																	70070940		2203	4299	6502	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3775C>A	6.37:g.70070940C>A	ENSP00000359630:p.Pro1259Thr		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.P1259T	ENST00000370598.1	37	c.3775	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041888	0.55003	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.43294	2.11;2.72;0.95	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.40543	1.245	0.58432	D	0.999996	P;B	0.37061	0.58;0.3	B;B	0.37601	0.254;0.098	T	0.09662	-1.0664	10	0.49607	T	0.09	.	19.9199	0.97084	0.0:1.0:0.0:0.0	.	465;1259	B7Z356;O60242	.;BAI3_HUMAN	T	1259;465;223	ENSP00000359630:P1259T;ENSP00000238918:P465T;ENSP00000441821:P223T	ENSP00000238918:P465T	P	+	1	0	BAI3	70127661	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.595000	0.61048	2.781000	0.95711	0.591000	0.81541	CCC	BAI3	-	NULL		0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	C			70070940	1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70070940	C	A	70070940	3	1	182	1	0	0	0	0	1	0	0	0	1301	739	26	4	3881	4	BAI3	6	70070940	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	4064941	70070940	101044127	62	33971										
PHIP	55023	genome.wustl.edu	37	chr6	79655921	79655921	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gtgtaggtgtagagaatgcaGaggtagagctttctgatttt	14	3	1	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:79655921G>A	ENST00000275034.4	-	38	4594	c.4427C>T	c.(4426-4428)tCt>tTt	p.S1476F	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1476					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGAGAATGCAGAGGTAGAGCT	0.398																																																	0													213	201	205					6																	79655921		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4427C>T	6.37:g.79655921G>A	ENSP00000275034:p.Ser1476Phe		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S1476F	ENST00000275034.4	37	c.4427	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475034	0.43942	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.44083	0.93	5.87	5.87	0.94306	.	0.074701	0.56097	D	0.000021	T	0.37732	0.1014	L	0.27053	0.805	0.54753	D	0.999986	D;D	0.61080	0.989;0.989	P;P	0.56916	0.809;0.809	T	0.03684	-1.1013	9	.	.	.	-18.219	19.2028	0.93717	0.0:0.0:1.0:0.0	.	1476;1476	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	1476;202	ENSP00000275034:S1476F	.	S	-	2	0	PHIP	79712640	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.757000	0.74924	2.785000	0.95823	0.591000	0.81541	TCT	PHIP	-	NULL		0.398	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	G			79655921	-1	no_errors	ENST00000275034	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79655921	G	A	79655921	3	1	182	1	0	0	0	0	1	0	0	0	11866	942	33	1	1050	1	PHIP	6	79655921	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	9584981	79655921	91459146	63	33972										
SCML4	256380	genome.wustl.edu	37	chr6	108066240	108066240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctggtggctgaagaggtcatCgcacaggaggcttcggcaca	15	10	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:108066240C>T	ENST00000369020.3	-	5	840	c.595G>A	c.(595-597)Gat>Aat	p.D199N	SCML4_ENST00000369022.2_Missense_Mutation_p.D141N|SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369021.3_Missense_Mutation_p.D170N	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AAGAGGTCATCGCACAGGAGG	0.592																																																	0													76	65	69					6																	108066240		2203	4300	6503	SO:0001583	missense	256380				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.595G>A	6.37:g.108066240C>T	ENSP00000358016:p.Asp199Asn		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	pfam_DUF3588	p.D170N	ENST00000369020.3	37	c.508	CCDS5060.2	6	.	.	.	.	.	.	.	.	.	.	C	32	5.110379	0.94292	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.38	5.38	0.77491	.	0.256395	0.44902	D	0.000414	T	0.57095	0.2030	M	0.64567	1.98	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.999	D;D;P	0.70016	0.937;0.967;0.875	T	0.57213	-0.7850	10	0.62326	D	0.03	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	199;199;170	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	N	141;199;170;170	ENSP00000358018:D141N;ENSP00000358016:D199N;ENSP00000358017:D170N;ENSP00000404688:D170N	ENSP00000358016:D199N	D	-	1	0	SCML4	108172933	1.000000	0.71417	0.993000	0.49108	0.604000	0.37047	7.320000	0.79064	2.793000	0.96121	0.655000	0.94253	GAT	SCML4	-	pfam_DUF3588		0.592	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	HGNC	protein_coding	OTTHUMT00000041700.3	C	XM_171128		108066240	-1	no_errors	ENST00000369021	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108066240	C	T	108066240	3	4	182	1	0	0	0	0	1	0	0	0	13941	884	31	1	665	1	SCML4	6	108066240	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	28410319	108066240	63048827	64	33973										
ENPP3	5169	genome.wustl.edu	37	chr6	131962640	131962640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgtcacttggattaggcctgGggcttggactcaggaaactg	14	8	2	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:131962640G>T	ENST00000414305.1	+	3	452	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	ENPP3_ENST00000357639.3_Missense_Mutation_p.G42W|ENPP3_ENST00000427148.2_Missense_Mutation_p.G8W|ENPP3_ENST00000358229.5_Missense_Mutation_p.G42W|ENPP3_ENST00000543135.1_Missense_Mutation_p.G8W|ENPP3_ENST00000470930.1_3'UTR|RNU4-18P_ENST00000516751.1_RNA			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	42					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATTAGGCCTGGGGCTTGGACT	0.358																																																	0													93	94	93					6																	131962640		2203	4300	6503	SO:0001583	missense	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.124G>T	6.37:g.131962640G>T	ENSP00000406261:p.Gly42Trp		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.G42W	ENST00000414305.1	37	c.124	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876202	0.51801	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.75477	-0.84;-0.84;-0.82;-0.94;-0.91	5.74	3.96	0.45880	.	0.222162	0.31347	N	0.007818	T	0.70046	0.3179	M	0.65498	2.005	0.36472	D	0.867349	D	0.63046	0.992	P	0.54499	0.754	T	0.74359	-0.3691	10	0.87932	D	0	-2.9619	7.976	0.30155	0.085:0.1608:0.7542:0.0	.	42	O14638	ENPP3_HUMAN	W	42;42;8;8;42	ENSP00000406261:G42W;ENSP00000350265:G42W;ENSP00000440810:G8W;ENSP00000399269:G8W;ENSP00000350964:G42W	ENSP00000350265:G42W	G	+	1	0	ENPP3	132004333	1.000000	0.71417	0.832000	0.32986	0.593000	0.36681	2.515000	0.45512	0.765000	0.33221	0.655000	0.94253	GGG	ENPP3	-	NULL		0.358	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	G			131962640	1	no_errors	ENST00000357639	ensembl	human	known	70_37	missense	SNP	0.992	T	T	131962640	G	T	131962640	3	4	182	1	0	0	0	0	1	0	0	0	5143	1232	43	4	130	4	ENPP3	6	131962640	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	23896400	131962640	39152427	65	33974										
MYB	4602	genome.wustl.edu	37	chr6	135518263	135518263	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agggtgaacaaacgtatgttGagtgagagttcacttgaccc	12	7	1	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:135518263G>C	ENST00000367814.4	+	9	1389				MYB_ENST00000527615.1_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.L453F|MYB_ENST00000442647.2_Intron|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000341911.5_Missense_Mutation_p.L456F|MYB_ENST00000534044.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.L440F|MYB_ENST00000533624.1_Intron|MYB_ENST00000316528.8_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AACGTATGTTGAGTGAGAGTT	0.532			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													150	134	139					6																	135518263		1568	3582	5150	SO:0001627	intron_variant	4602				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1203+1123G>C	6.37:g.135518263G>C			E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L456F	ENST00000367814.4	37	c.1368	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	G	4.431	0.079810	0.08533	.	.	ENSG00000118513	ENST00000341911;ENST00000528774;ENST00000534121	T;T;T	0.12774	2.67;2.67;2.65	5.79	4.91	0.64330	.	0.358411	0.26275	N	0.025313	T	0.10852	0.0265	L	0.39898	1.24	0.80722	D	1	D;D;D	0.63046	0.966;0.961;0.992	P;P;P	0.57101	0.691;0.708;0.813	T	0.09487	-1.0672	10	0.09843	T	0.71	-2.5913	13.4561	0.61199	0.1266:0.0:0.8734:0.0	.	453;440;456	E9PNL6;E9PNA4;P10242-4	.;.;.	F	456;453;440	ENSP00000339992:L456F;ENSP00000434723:L453F;ENSP00000432851:L440F	ENSP00000339992:L456F	L	+	3	2	MYB	135559956	1.000000	0.71417	0.928000	0.36995	0.125000	0.20455	2.433000	0.44793	2.746000	0.94184	0.655000	0.94253	TTG	MYB	-	NULL		0.532	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	G			135518263	1	no_errors	ENST00000341911	ensembl	human	known	70_37	missense	SNP	0.992	C	C	135518263	G	C	135518263	1	2	182	0	1	0	0	0	0	0	0	0	10030	1281	45	1		1	MYB	6	135518263	Intron	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	3555623	135518263	35596804	66	33975										
SYNE1	23345	genome.wustl.edu	37	chr6	152552684	152552684	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cactgtcagctgtttacagtTaatgtctatcttaaaaccct	5	10	3	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:152552684T>A	ENST00000367255.5	-	114	21482	c.20881A>T	c.(20881-20883)Aac>Tac	p.N6961Y	SYNE1_ENST00000341594.5_Missense_Mutation_p.N6573Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.N6890Y|SYNE1_ENST00000356820.4_Missense_Mutation_p.N1485Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.N6961Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.N6890Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6961					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		TGTTTACAGTTAATGTCTATC	0.358										HNSCC(10;0.0054)																																							0													70	64	66					6																	152552684		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20881A>T	6.37:g.152552684T>A	ENSP00000356224:p.Asn6961Tyr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.N6961Y	ENST00000367255.5	37	c.20881	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	19.31	3.802204	0.70682	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.54675	0.65;0.64;0.56;0.64;0.75;2.65	6.03	4.85	0.62838	.	0.000000	0.64402	D	0.000002	T	0.61223	0.2330	M	0.71581	2.175	0.46849	D	0.999223	D;D;D	0.76494	0.997;0.997;0.999	P;P;D	0.67725	0.898;0.898;0.953	T	0.67624	-0.5623	10	0.72032	D	0.01	.	13.3646	0.60676	0.0:0.0:0.1316:0.8684	.	6961;6961;6890	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	Y	6961;6890;6961;6890;6573;1485	ENSP00000356224:N6961Y;ENSP00000396024:N6890Y;ENSP00000265368:N6961Y;ENSP00000390975:N6890Y;ENSP00000341887:N6573Y;ENSP00000349276:N1485Y	ENSP00000265368:N6961Y	N	-	1	0	SYNE1	152594377	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.168000	0.64978	1.061000	0.40601	0.533000	0.62120	AAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	T	NM_182961		152552684	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152552684	T	A	152552684	3	1	182	1	0	0	0	0	1	0	0	0	15475	1754	61	5	5717	5	SYNE1	6	152552684	Missense_Mutation	SNP	T	TCGA-Q1-A6DT-01A-11D-A32I-09	17034421	152552684	18562383	67	33976										
MLLT4	4301	genome.wustl.edu	37	chr6	168352292	168352292	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctgctgaacggagaaagagaGaagaacatcagcgttggtat	13	6	1	5			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr6:168352292G>C	ENST00000447894.2	+	29	4237	c.4237G>C	c.(4237-4239)Gaa>Caa	p.E1413Q	MLLT4_ENST00000400822.3_Missense_Mutation_p.E1412Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1420Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1413Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1413Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.E1396Q|MLLT4_ENST00000366806.2_Missense_Mutation_p.E1413Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1413					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGAAAGAGAGAAGAACATCA	0.602			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													89	86	87					6																	168352292		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4237G>C	6.37:g.168352292G>C	ENSP00000404595:p.Glu1413Gln		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.E1413Q	ENST00000447894.2	37	c.4237		6	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354904	0.41700	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04809	3.77;3.66;3.76;3.76;3.55;3.66;3.66	5.52	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.09905	0.0243	M	0.72479	2.2	0.49389	D	0.999784	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.993;0.999;0.995;0.995	T	0.03503	-1.1030	10	0.34782	T	0.22	-0.0041	11.9041	0.52701	0.1403:0.0:0.8597:0.0	.	1413;1412;1413;1397	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	Q	1413;1420;1413;1413;1396;1413;1412;1413	ENSP00000341118:E1413Q;ENSP00000252692:E1420Q;ENSP00000375956:E1413Q;ENSP00000355771:E1413Q;ENSP00000375960:E1396Q;ENSP00000383623:E1412Q;ENSP00000404595:E1413Q	ENSP00000345834:E1413Q	E	+	1	0	MLLT4	168095141	1.000000	0.71417	0.008000	0.14137	0.001000	0.01503	8.734000	0.91543	0.705000	0.31890	-0.136000	0.14681	GAA	MLLT4	-	NULL		0.602	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	G	NM_005936		168352292	1	no_errors	ENST00000366806	ensembl	human	known	70_37	missense	SNP	0.979	C	C	168352292	G	C	168352292	3	2	182	1	0	0	0	0	1	0	0	0	9652	943	33	1	4351	1	MLLT4	6	168352292	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	15799608	168352292	2762775	68	33977										
TNRC18	84629	genome.wustl.edu	37	chr7	5417088	5417088	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gatgggctgcggggtcggcaGaccagcgacctgagcccgcc	17	14	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr7:5417088G>A	ENST00000430969.1	-	7	2723	c.2375C>T	c.(2374-2376)tCt>tTt	p.S792F	TNRC18_ENST00000399537.4_Missense_Mutation_p.S792F	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	792							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGGTCGGCAGACCAGCGACC	0.706																																																	0													9	11	10					7																	5417088		1907	4088	5995	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2375C>T	7.37:g.5417088G>A	ENSP00000395538:p.Ser792Phe		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S792F	ENST00000430969.1	37	c.2375	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257168	0.39896	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.13657	2.57;2.57	4.86	4.86	0.63082	.	.	.	.	.	T	0.29850	0.0746	L	0.54323	1.7	0.30587	N	0.761931	D	0.71674	0.998	P	0.61940	0.896	T	0.07712	-1.0758	9	0.59425	D	0.04	.	13.6999	0.62602	0.0:0.1546:0.8454:0.0	.	792	O15417	TNC18_HUMAN	F	792;792;194	ENSP00000382452:S792F;ENSP00000395538:S792F	ENSP00000382452:S792F	S	-	2	0	TNRC18	5383614	1.000000	0.71417	0.919000	0.36401	0.776000	0.43924	7.386000	0.79775	2.231000	0.72958	0.561000	0.74099	TCT	TNRC18	-	NULL		0.706	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		G			5417088	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	0.998	A	A	5417088	G	A	5417088	3	1	182	1	0	0	0	0	1	0	0	0	16369	942	33	1	6627	1	TNRC18	7	5417088	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		5417088	153721575	69	33978										
THSD7A	221981	genome.wustl.edu	37	chr7	11630259	11630259	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tcagtccactctgtagttctCcagccatacctaaataaaga	5	12	3	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr7:11630259C>T	ENST00000423059.4	-	4	1532	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	427	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGTAGTTCTCCAGCCATACC	0.488										HNSCC(18;0.044)																																							0													27	31	30					7																	11630259		1999	4183	6182	SO:0001587	stop_gained	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1281G>A	7.37:g.11630259C>T	ENSP00000406482:p.Trp427*			Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.W427*	ENST00000423059.4	37	c.1281	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	42	9.345157	0.99143	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	427	.	ENSP00000262042:W427X	W	-	3	0	THSD7A	11596784	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	TGG	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.488	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2		11630259	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	11630259	C	T	11630259	4	4	182	1	0	0	0	0	0	1	0	0	15909	856	30	1	3788	1	THSD7A	7	11630259	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	6213171	11630259	147508404	70	33979										
ZMIZ2	83637	genome.wustl.edu	37	chr7	44804562	44804562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agacagctttgctggagggcCtggaggtggaccagtacatg	16	8	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr7:44804562C>T	ENST00000309315.4	+	15	2074	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	ZMIZ2_ENST00000441627.1_Silent_p.L651L|ZMIZ2_ENST00000433667.1_Silent_p.L619L|ZMIZ2_ENST00000265346.7_Silent_p.L625L|ZMIZ2_ENST00000413916.1_Silent_p.L593L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	651					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGGAGGGCCTGGAGGTGGA	0.562																																					NSCLC(20;604 852 1948 16908 50522)												0													110	115	113					7																	44804562		2084	4252	6336	SO:0001819	synonymous_variant	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1951C>T	7.37:g.44804562C>T			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.L651	ENST00000309315.4	37	c.1951	CCDS43576.1	7																																																																																			ZMIZ2	-	pfscan_Znf_MIZ		0.562	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ2	HGNC	protein_coding	OTTHUMT00000341790.1	C	NM_031449		44804562	1	no_errors	ENST00000309315	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44804562	C	T	44804562	2	4	182	1	0	0	0	0	0	0	0	1	17727	680	24	4		4	ZMIZ2	7	44804562	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	33174303	44804562	114334101	71	33980										
ADCY1	107	genome.wustl.edu	37	chr7	45697411	45697411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tctgtggtgtcctgggcttgCgcaagtggcagtacgacgtg	16	9	1	0	rs536487311		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr7:45697411C>T	ENST00000297323.7	+	6	1256	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	ADCY1_ENST00000432715.1_Missense_Mutation_p.R187C	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	412					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTGGGCTTGCGCAAGTGGCA	0.612													C|||	1	0.000199681	0	0	5008	,	,		18206	0		0	False		,,,				2504	0.001																0													125	92	103					7																	45697411		2203	4300	6503	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1234C>T	7.37:g.45697411C>T	ENSP00000297323:p.Arg412Cys		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R412C	ENST00000297323.7	37	c.1234	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023242	0.75275	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.82433	-1.61;-1.61	4.44	4.44	0.53790	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.87450	0.6180	M	0.79693	2.465	0.80722	D	1	D;D	0.62365	0.991;0.99	P;P	0.51895	0.48;0.683	D	0.88579	0.3135	10	0.49607	T	0.09	.	14.9371	0.70964	0.0:1.0:0.0:0.0	.	412;187	Q08828;C9J1J0	ADCY1_HUMAN;.	C	187;412;412	ENSP00000392721:R187C;ENSP00000297323:R412C	ENSP00000297323:R412C	R	+	1	0	ADCY1	45663936	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.352000	0.59404	2.446000	0.82766	0.655000	0.94253	CGC	ADCY1	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.612	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	C	NM_021116		45697411	1	no_errors	ENST00000297323	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45697411	C	T	45697411	3	4	182	1	0	0	0	0	1	0	0	0	292	768	27	2	1256	2	ADCY1	7	45697411	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	892849	45697411	113441252	72	33981										
COL1A2	1278	genome.wustl.edu	37	chr7	94037505	94037505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctgcttctagggagcccgtgGgcttcctggtgagagaggac	16	10	1	2	rs72656380		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr7:94037505G>A	ENST00000297268.6	+	14	1121	c.650G>A	c.(649-651)gGg>gAg	p.G217E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	217					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGAGCCCGTGGGCTTCCTGGT	0.413										HNSCC(75;0.22)																																							0			GRCh37	CM011294	COL1A2	M	rs72656380						94	98	97					7																	94037505		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.650G>A	7.37:g.94037505G>A	ENSP00000297268:p.Gly217Glu		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.G217E	ENST00000297268.6	37	c.650	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243105	0.79912	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99176	-5.52	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98372	1.0554	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	217	P08123	CO1A2_HUMAN	E	217;218	ENSP00000297268:G217E	ENSP00000297268:G217E	G	+	2	0	COL1A2	93875441	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGG	COL1A2	-	NULL		0.413	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	G	NM_000089		94037505	1	no_errors	ENST00000297268	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94037505	G	A	94037505	3	1	182	1	0	0	0	0	1	0	0	0	3683	1232	43	4	704	4	COL1A2	7	94037505	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	48340094	94037505	65101158	73	33982										
GRM8	2918	genome.wustl.edu	37	chr7	126249508	126249508	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gaagatatcataacgtccagGagcatctccgttttcattaa	7	9	3	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr7:126249508G>C	ENST00000339582.2	-	8	2210	c.1402C>G	c.(1402-1404)Cct>Gct	p.P468A	GRM8_ENST00000358373.3_Missense_Mutation_p.P468A|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000405249.1_Silent_p.L491L|GRM8_ENST00000444921.2_Missense_Mutation_p.P468A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	468					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TAACGTCCAGGAGCATCTCCG	0.388										HNSCC(24;0.065)																																							0													158	136	143					7																	126249508		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1402C>G	7.37:g.126249508G>C	ENSP00000344173:p.Pro468Ala		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.P468A	ENST00000339582.2	37	c.1402	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816561	0.70912	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.82893	-1.66;-1.66;-1.66	5.45	5.45	0.79879	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91818	0.7411	M	0.82193	2.58	0.80722	D	1	D;B	0.89917	1.0;0.052	D;B	0.85130	0.997;0.066	D	0.92050	0.5647	10	0.52906	T	0.07	.	18.2877	0.90119	0.0:0.0:1.0:0.0	.	468;468	O00222-2;O00222	.;GRM8_HUMAN	A	468	ENSP00000344173:P468A;ENSP00000409790:P468A;ENSP00000351142:P468A	ENSP00000344173:P468A	P	-	1	0	GRM8	126036744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.535000	0.85469	0.563000	0.77884	CCT	GRM8	-	pfam_ANF_lig-bd_rcpt		0.388	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	G			126249508	-1	no_errors	ENST00000339582	ensembl	human	known	70_37	missense	SNP	1.000	C	C	126249508	G	C	126249508	3	2	182	1	0	0	0	0	1	0	0	0	6823	1174	41	1	1390	1	GRM8	7	126249508	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	32212003	126249508	32889155	74	33983										
DPP6	1804	genome.wustl.edu	37	chr7	154519587	154519587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tacaatggcctcagtgactgGctgtatgaaggtaagatgtg	13	6	1	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr7:154519587G>T	ENST00000377770.3	+	8	1014	c.873G>T	c.(871-873)tgG>tgT	p.W291C	DPP6_ENST00000404039.1_Missense_Mutation_p.W227C|DPP6_ENST00000427557.1_Missense_Mutation_p.W184C|DPP6_ENST00000332007.3_Missense_Mutation_p.W229C			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	291					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCAGTGACTGGCTGTATGAAG	0.438																																					NSCLC(125;1384 1783 2490 7422 34254)												0													118	114	115					7																	154519587		1989	4177	6166	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.873G>T	7.37:g.154519587G>T	ENSP00000367001:p.Trp291Cys			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.W291C	ENST00000377770.3	37	c.873		7	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492289	0.64074	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.22	5.22	0.72569	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.998;0.998	D	0.88252	0.2917	10	0.87932	D	0	-12.4876	18.7854	0.91952	0.0:0.0:1.0:0.0	.	184;229;291;227	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	227;291;229;184	ENSP00000385578:W227C;ENSP00000367001:W291C;ENSP00000328226:W229C;ENSP00000397303:W184C	ENSP00000328226:W229C	W	+	3	0	DPP6	154150520	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	9.468000	0.97676	2.432000	0.82394	0.579000	0.79373	TGG	DPP6	-	pfam_Peptidase_S9B		0.438	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	G	NM_130797		154519587	1	no_errors	ENST00000377770	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154519587	G	T	154519587	3	4	182	1	0	0	0	0	1	0	0	0	4740	1212	42	4	1019	4	DPP6	7	154519587	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	28270079	154519587	4619076	75	33984										
DKK4	27121	genome.wustl.edu	37	chr8	42231857	42231857	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gccacagtcaaaagttctcaGacaactttctccctcttgtc	5	14	4	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr8:42231857G>A	ENST00000220812.2	-	4	622	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	146	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AAAGTTCTCAGACAACTTTCT	0.468																																																	0													79	77	78					8																	42231857		2203	4300	6503	SO:0001819	synonymous_variant	27121			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"dickkopf (Xenopus laevis) homolog 4", "dickkopf homolog 4 (Xenopus laevis)"			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.436C>T	8.37:g.42231857G>A			Q3KNX0|Q9Y4C3	Silent	SNP	pfam_Dickkopf_N,pfam_Prokineticin_domain	p.L146	ENST00000220812.2	37	c.436	CCDS6130.1	8																																																																																			DKK4	-	pfam_Prokineticin_domain		0.468	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK4	HGNC	protein_coding	OTTHUMT00000377563.1	G			42231857	-1	no_errors	ENST00000220812	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42231857	G	A	42231857	2	1	182	1	0	0	0	0	0	0	0	1	4557	933	33	1		1	DKK4	8	42231857	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		42231857	104132165	76	33985										
KCNB2	9312	genome.wustl.edu	37	chr8	73480146	73480146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctggacaggctgcccaggacGcgcctggggaagcttcgaga	16	12	0	1	rs566076958		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr8:73480146G>A	ENST00000523207.1	+	2	765	c.177G>A	c.(175-177)acG>acA	p.T59T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGCCCAGGACGCGCCTGGGGA	0.537													G|||	1	0.000199681	0	0	5008	,	,		16275	0		0.001	False		,,,				2504	0																0													66	68	67					8																	73480146		2203	4300	6503	SO:0001819	synonymous_variant	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.177G>A	8.37:g.73480146G>A			Q7Z7D0|Q9BXD3	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.T59	ENST00000523207.1	37	c.177	CCDS6209.1	8																																																																																			KCNB2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	G	NM_004770		73480146	1	no_errors	ENST00000523207	ensembl	human	known	70_37	silent	SNP	0.028	A	A	73480146	G	A	73480146	2	1	182	1	0	0	0	0	0	0	0	1	8033	1074	38	2		2	KCNB2	8	73480146	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	31248289	73480146	72883876	77	33986										
UQCRB	7381	genome.wustl.edu	37	chr8	97244130	97244130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tcttcttatggcttcttttaCatcttcatcctcgtatattg	4	10	5	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr8:97244130C>A	ENST00000287022.5	-	3	233	c.130G>T	c.(130-132)Gta>Tta	p.V44L	UQCRB_ENST00000518406.1_Missense_Mutation_p.V44L|UQCRB_ENST00000523920.1_Missense_Mutation_p.V44L|UQCRB_ENST00000517523.1_Missense_Mutation_p.V12L	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	44					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					GCTTCTTTTACATCTTCATCC	0.378																																																	0													104	96	99					8																	97244130		2203	4300	6503	SO:0001583	missense	7381			X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"Mitochondrial respiratory chain complex / Complex III"	12582	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VI", "cytochrome b-c1 complex subunit 7"	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.130G>T	8.37:g.97244130C>A	ENSP00000287022:p.Val44Leu		E5RJU0|Q6FGD1	Missense_Mutation	SNP	pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa	p.V44L	ENST00000287022.5	37	c.130	CCDS6269.1	8	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275728	0.40294	.	.	ENSG00000156467	ENST00000287022;ENST00000517523;ENST00000518406;ENST00000523920	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.4	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	M	0.84585	2.705	0.80722	D	1	B	0.34313	0.448	B	0.37480	0.251	T	0.62407	-0.6861	10	0.87932	D	0	-17.1962	12.6793	0.56912	0.0:0.9233:0.0:0.0767	.	44	P14927	QCR7_HUMAN	L	44;12;44;44	ENSP00000287022:V44L;ENSP00000429787:V12L;ENSP00000430494:V44L;ENSP00000430560:V44L	ENSP00000287022:V44L	V	-	1	0	UQCRB	97313306	1.000000	0.71417	0.541000	0.28102	0.321000	0.28281	5.809000	0.69172	1.297000	0.44761	-0.186000	0.12905	GTA	UQCRB	-	pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa		0.378	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRB	HGNC	protein_coding	OTTHUMT00000379863.1	C	NM_006294		97244130	-1	no_errors	ENST00000521036	ensembl	human	known	70_37	missense	SNP	1.000	A	A	97244130	C	A	97244130	3	1	182	1	0	0	0	0	1	0	0	0	17049	478	17	4	213	4	UQCRB	8	97244130	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	23763984	97244130	49119892	78	33987										
SYBU	55638	genome.wustl.edu	37	chr8	110587517	110587517	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttaaatcaaccactaaggcaGagagggactctgggaagctc	11	9	2	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr8:110587517G>A	ENST00000422135.1	-	8	2125	c.1610C>T	c.(1609-1611)tCt>tTt	p.S537F	SYBU_ENST00000446070.2_Missense_Mutation_p.S536F|SYBU_ENST00000529175.1_Missense_Mutation_p.S331F|SYBU_ENST00000529690.1_Missense_Mutation_p.S407F|SYBU_ENST00000440310.1_Missense_Mutation_p.S537F|SYBU_ENST00000399066.3_Missense_Mutation_p.S534F|SYBU_ENST00000532779.1_Missense_Mutation_p.S469F|SYBU_ENST00000408889.3_Missense_Mutation_p.S418F|SYBU_ENST00000533171.1_Missense_Mutation_p.S537F|SYBU_ENST00000419099.1_Missense_Mutation_p.S536F|SYBU_ENST00000424158.2_Missense_Mutation_p.S542F|SYBU_ENST00000276646.9_Missense_Mutation_p.S537F|SYBU_ENST00000528647.1_Missense_Mutation_p.S536F|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533065.1_Missense_Mutation_p.S418F|SYBU_ENST00000533895.1_Missense_Mutation_p.S536F|SYBU_ENST00000408908.2_Missense_Mutation_p.S537F|SYBU_ENST00000528331.1_Missense_Mutation_p.S418F|SYBU_ENST00000433638.1_Missense_Mutation_p.S537F	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	537					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CACTAAGGCAGAGAGGGACTC	0.542																																																	0													64	67	66					8																	110587517		1917	4130	6047	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1610C>T	8.37:g.110587517G>A	ENSP00000407118:p.Ser537Phe		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.S537F	ENST00000422135.1	37	c.1610	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277728	0.40294	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.44	5.44	0.79542	.	0.529393	0.20368	N	0.093716	T	0.71517	0.3349	M	0.66939	2.045	0.29615	N	0.846646	D;P;P;D;D	0.76494	0.998;0.955;0.473;0.998;0.999	D;P;B;D;D	0.68943	0.93;0.804;0.19;0.93;0.961	T	0.68788	-0.5316	9	0.87932	D	0	-5.5917	18.4396	0.90660	0.0:0.0:1.0:0.0	.	407;469;536;537;534	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	F	536;542;469;534;536;418;331;537;536;537;536;537;537;537;418;418;407;537	.	ENSP00000276646:S537F	S	-	2	0	SYBU	110656693	0.776000	0.28616	0.116000	0.21606	0.693000	0.40251	4.294000	0.59043	2.837000	0.97791	0.655000	0.94253	TCT	SYBU	-	NULL		0.542	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	G	NM_017786		110587517	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	missense	SNP	0.401	A	A	110587517	G	A	110587517	3	1	182	1	0	0	0	0	1	0	0	0	15457	942	33	1	385	1	SYBU	8	110587517	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	13343387	110587517	35776505	79	33988										
COL14A1	7373	genome.wustl.edu	37	chr8	121262997	121262997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cgacgccctgacaggcatggTgaaaacatgtaagagccatt	11	10	0	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr8:121262997T>C	ENST00000297848.3	+	22	3014	c.2744T>C	c.(2743-2745)gTg>gCg	p.V915A	COL14A1_ENST00000309791.4_Missense_Mutation_p.V915A|COL14A1_ENST00000247781.3_Missense_Mutation_p.V820A|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACAGGCATGGTGAAAACATGT	0.493																																																	0													68	60	63					8																	121262997		2203	4300	6503	SO:0001583	missense	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2744T>C	8.37:g.121262997T>C	ENSP00000297848:p.Val915Ala			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.V915A	ENST00000297848.3	37	c.2744	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	T	0.087	-1.173106	0.01646	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	D;D;D;T	0.87029	-2.09;-2.12;-2.2;0.65	5.73	4.58	0.56647	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.123875	0.53938	D	0.000050	T	0.54271	0.1848	N	0.00514	-1.41	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.61312	-0.7088	10	0.02654	T	1	.	3.6761	0.08292	0.0:0.1526:0.2174:0.63	.	915;915	Q05707-2;Q05707	.;COEA1_HUMAN	A	915;915;820;728	ENSP00000311809:V915A;ENSP00000297848:V915A;ENSP00000247781:V820A;ENSP00000409461:V728A	ENSP00000247781:V820A	V	+	2	0	COL14A1	121332178	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	2.675000	0.46875	2.324000	0.78689	0.533000	0.62120	GTG	COL14A1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	T	NM_021110		121262997	1	no_errors	ENST00000297848	ensembl	human	known	70_37	missense	SNP	1.000	C	C	121262997	T	C	121262997	3	2	182	1	0	0	0	0	1	0	0	0	3676	1696	59	5	2826	5	COL14A1	8	121262997	Missense_Mutation	SNP	T	TCGA-Q1-A6DT-01A-11D-A32I-09	10675480	121262997	25101025	80	33989										
CYP11B1	1584	genome.wustl.edu	37	chr8	143957227	143957227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cggcggccaggctctcctggCgcagggcctgctgcacgttg	16	15	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr8:143957227C>T	ENST00000292427.4	-	6	1054	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412H|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCTCTCCTGGCGCAGGGCCTG	0.642									Familial Hyperaldosteronism type I																																								0													76	78	78					8																	143957227		2203	4300	6503	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1022G>A	8.37:g.143957227C>T	ENSP00000292427:p.Arg341His		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.R341H	ENST00000292427.4	37	c.1022	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	.	22.8	4.338374	0.81911	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.72615	-0.67;2.36;-0.67	4.42	4.42	0.53409	.	0.126247	0.31963	N	0.006789	T	0.73583	0.3605	L	0.41961	1.31	0.51012	D	0.999904	P;P;P;B;D	0.60575	0.948;0.772;0.772;0.296;0.988	P;P;P;B;P	0.57846	0.597;0.458;0.458;0.098;0.828	T	0.70063	-0.4975	10	0.23302	T	0.38	.	14.8598	0.70372	0.0:1.0:0.0:0.0	.	412;341;341;341;57	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	H	341;341;412	ENSP00000292427:R341H;ENSP00000428043:R341H;ENSP00000366903:R412H	ENSP00000292427:R341H	R	-	2	0	CYP11B1	143954229	0.021000	0.18746	0.994000	0.49952	0.811000	0.45836	2.466000	0.45084	2.169000	0.68431	0.555000	0.69702	CGC	CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	C			143957227	-1	no_errors	ENST00000292427	ensembl	human	known	70_37	missense	SNP	1.000	T	T	143957227	C	T	143957227	3	4	182	1	0	0	0	0	1	0	0	0	4150	768	27	2	505	2	CYP11B1	8	143957227	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	22694230	143957227	2406795	81	33990										
ZNF623	9831	genome.wustl.edu	37	chr8	144732899	144732899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tcgccattatcagatccacaCagaagtgaaacagtatgaat	7	9	1	4	rs373149668		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr8:144732899C>T	ENST00000501748.2	+	1	946	c.857C>T	c.(856-858)aCa>aTa	p.T286I	ZNF623_ENST00000526926.1_Missense_Mutation_p.T246I|ZNF623_ENST00000458270.2_Missense_Mutation_p.T246I	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGATCCACACAGAAGTGAAA	0.468																																																	0								C	ILE/THR,ILE/THR	1,4405	2.1+/-5.4	0,1,2202	90	82	85		737,857	3.3	1	8		85	0,8600		0,0,4300	no	missense,missense	ZNF623	NM_001082480.1,NM_014789.3	89,89	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	246/497,286/537	144732899	1,13005	2203	4300	6503	SO:0001583	missense	9831			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.857C>T	8.37:g.144732899C>T	ENSP00000445979:p.Thr286Ile		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T286I	ENST00000501748.2	37	c.857	CCDS34957.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144887	0.77888	2.27E-4	0.0	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.25749	1.78;1.78;1.78	4.25	3.3	0.37823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47563	0.1452	M	0.75085	2.285	0.34176	D	0.670376	D	0.76494	0.999	D	0.67382	0.951	T	0.62604	-0.6819	9	0.87932	D	0	-6.3541	11.9541	0.52970	0.0:0.8226:0.1774:0.0	.	286	O75123	ZN623_HUMAN	I	246;246;246;286;286	ENSP00000435232:T246I;ENSP00000411139:T246I;ENSP00000445979:T286I	ENSP00000330358:T246I	T	+	2	0	ZNF623	144804042	0.992000	0.36948	0.961000	0.40146	0.995000	0.86356	3.049000	0.49869	2.359000	0.80004	0.655000	0.94253	ACA	ZNF623	-	pfscan_Znf_C2H2		0.468	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	HGNC	protein_coding	OTTHUMT00000382522.3	C	NM_014789		144732899	1	no_errors	ENST00000501748	ensembl	human	known	70_37	missense	SNP	0.995	T	T	144732899	C	T	144732899	3	4	182	1	0	0	0	0	1	0	0	0	18077	478	17	4	859	4	ZNF623	8	144732899	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	775672	144732899	1631123	82	33991										
FOXD4	2298	genome.wustl.edu	37	chr9	117854	117854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aggccgccgcagaccttggcGgtgccctgaactcggtgcca	14	15	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:117854G>A	ENST00000382500.2	-	1	563	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	89					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGACCTTGGCGGTGCCCTGAA	0.701																																																	0													32	55	47					9																	117854		2176	4273	6449	SO:0001583	missense	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.266C>T	9.37:g.117854G>A	ENSP00000371940:p.Pro89Leu		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P89L	ENST00000382500.2	37	c.266	CCDS34975.1	9	.	.	.	.	.	.	.	.	.	.	.	9.976	1.226874	0.22542	.	.	ENSG00000170122	ENST00000382500	D	0.95171	-3.63	2.24	2.24	0.28232	.	1.362120	0.06167	U	0.676965	D	0.87724	0.6249	N	0.24115	0.695	0.09310	N	1	B	0.28971	0.229	B	0.15870	0.014	T	0.79827	-0.1639	10	0.56958	D	0.05	.	3.6941	0.08357	0.1575:0.2634:0.5791:0.0	.	89	Q12950	FOXD4_HUMAN	L	89	ENSP00000371940:P89L	ENSP00000371940:P89L	P	-	2	0	FOXD4	107854	.	.	0.005000	0.12908	0.067000	0.16453	.	.	1.253000	0.44018	0.291000	0.19559	CCG	FOXD4	-	NULL		0.701	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	G	NM_207305		117854	-1	no_errors	ENST00000382500	ensembl	human	known	70_37	missense	SNP	0.000	A	A	117854	G	A	117854	3	1	182	1	0	0	0	0	1	0	0	0	6017	1116	39	2	1057	2	FOXD4	9	117854	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		117854	141095577	83	33992										
PTPRD	5789	genome.wustl.edu	37	chr9	8499796	8499796	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgagactttaacagatgttgAgttgacagcctctacctcga	9	9	1	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:8499796A>T	ENST00000381196.4	-	22	2716	c.2173T>A	c.(2173-2175)Tca>Aca	p.S725T	PTPRD_ENST00000540109.1_Missense_Mutation_p.S725T|PTPRD_ENST00000356435.5_Missense_Mutation_p.S725T|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S712T|PTPRD_ENST00000358503.5_Missense_Mutation_p.S712T|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	725	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACAGATGTTGAGTTGACAGCC	0.458										TSP Lung(15;0.13)																																							0													140	126	131					9																	8499796		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2173T>A	9.37:g.8499796A>T	ENSP00000370593:p.Ser725Thr		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.S725T	ENST00000381196.4	37	c.2173	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	A	15.49	2.847985	0.51164	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	5.69	3.26	0.37387	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061345	0.64402	D	0.000002	T	0.74129	0.3676	M	0.86343	2.81	0.45822	D	0.998697	D;P;D	0.61697	0.99;0.517;0.979	P;B;P	0.59703	0.786;0.171;0.862	T	0.76252	-0.3027	9	.	.	.	.	12.4471	0.55657	0.726:0.274:0.0:0.0	.	712;725;725	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	T	725;725;712;712;725	ENSP00000370593:S725T;ENSP00000348812:S725T;ENSP00000353187:S712T;ENSP00000351293:S712T;ENSP00000438164:S725T	.	S	-	1	0	PTPRD	8489796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.078000	0.76821	0.398000	0.25338	0.482000	0.46254	TCA	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	A			8499796	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8499796	A	T	8499796	3	4	182	1	0	0	0	0	1	0	0	0	12829	304	11	5	3721	5	PTPRD	9	8499796	Missense_Mutation	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	8381942	8499796	132713635	84	33993										
ENHO	375704	genome.wustl.edu	37	chr9	34521603	34521603	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcgagaatggcaggcccagcAgaggatgacccagagcagca	15	11	0	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:34521603A>T	ENST00000399775.2	-	2	516	c.91T>A	c.(91-93)Tgc>Agc	p.C31S	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	31						extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						CAGGCCCAGCAGAGGATGACC	0.642																																																	0													44	62	56					9																	34521603		2182	4282	6464	SO:0001583	missense	375704			BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"adropin"		"chromosome 9 open reading frame 165"	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.91T>A	9.37:g.34521603A>T	ENSP00000382675:p.Cys31Ser		Q8N666	Missense_Mutation	SNP	NULL	p.C31S	ENST00000399775.2	37	c.91	CCDS43795.1	9	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919671	0.52653	.	.	ENSG00000168913	ENST00000399775;ENST00000303992	.	.	.	5.12	3.9	0.45041	.	0.164513	0.29451	N	0.012114	T	0.29716	0.0742	.	.	.	0.25098	N	0.990806	B	0.15930	0.015	B	0.08055	0.003	T	0.22173	-1.0224	8	0.87932	D	0	.	7.5125	0.27581	0.8088:0.0:0.0:0.1912	.	31	Q6UWT2	ENHO_HUMAN	S	31	.	ENSP00000305955:C31S	C	-	1	0	ENHO	34511603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.087000	0.57671	1.929000	0.55896	0.454000	0.30748	TGC	ENHO	-	NULL		0.642	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENHO	HGNC	protein_coding	OTTHUMT00000356348.1	A	NM_198573		34521603	-1	no_errors	ENST00000399775	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34521603	A	T	34521603	3	4	182	1	0	0	0	0	1	0	0	0	5131	188	7	5	143	5	ENHO	9	34521603	Missense_Mutation	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	26021807	34521603	106691828	85	33994										
TLE4	7091	genome.wustl.edu	37	chr9	82323513	82323513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cattttggtttgcagcctcaAgcctaaggaccccaatggca	9	12	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:82323513A>G	ENST00000376552.2	+	13	2093	c.1075A>G	c.(1075-1077)Agc>Ggc	p.S359G	TLE4_ENST00000376537.4_Missense_Mutation_p.S391G|TLE4_ENST00000265284.6_Missense_Mutation_p.S334G|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376520.4_Missense_Mutation_p.S391G|TLE4_ENST00000376544.3_Missense_Mutation_p.S290G	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	359					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCAGCCTCAAGCCTAAGGAC	0.463																																																	0																																										SO:0001583	missense	7091			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1075A>G	9.37:g.82323513A>G	ENSP00000365735:p.Ser359Gly		F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.S391G	ENST00000376552.2	37	c.1171	CCDS43837.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.376|8.376	0.836399|0.836399	0.16891|0.16891	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000496114|ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000490347;ENST00000467142	.|T;T;T;T;T;T;T	.|0.43294	.|0.96;0.95;1.03;1.03;1.09;2.03;1.72	6.16|6.16	5.04|5.04	0.67666|0.67666	.|.	.|0.082902	.|0.85682	.|D	.|0.000000	T|T	0.09512|0.09512	0.0234|0.0234	N|N	0.00538|0.00538	-1.39|-1.39	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.0;0.001;0.0;0.0	T|T	0.36866|0.36866	-0.9730|-0.9730	5|10	.|0.02654	.|T	.|1	-24.0296|-24.0296	3.5276|3.5276	0.07765|0.07765	0.7031:0.0:0.2969:0.0|0.7031:0.0:0.2969:0.0	.|.	.|334;290;391;359	.|F8W6T6;Q04727-2;Q04727-3;Q04727	.|.;.;.;TLE4_HUMAN	R|G	149|359;290;391;391;334;178;87	.|ENSP00000365735:S359G;ENSP00000365727:S290G;ENSP00000365703:S391G;ENSP00000365720:S391G;ENSP00000265284:S334G;ENSP00000417844:S178G;ENSP00000418409:S87G	.|ENSP00000265284:S334G	K|S	+|+	2|1	0|0	TLE4|TLE4	81513333|81513333	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.986000|0.986000	0.74619|0.74619	6.533000|6.533000	0.73829|0.73829	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	AAG|AGC	TLE4	-	NULL		0.463	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	A	XM_212237		82323513	1	no_errors	ENST00000376520	ensembl	human	known	70_37	missense	SNP	1.000	G	G	82323513	A	G	82323513	3	3	182	1	0	0	0	0	1	0	0	0	15971	72	3	5	1125	5	TLE4	9	82323513	Missense_Mutation	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	47801910	82323513	58889918	86	33995										
C9orf79	286234	genome.wustl.edu	37	chr9	90503153	90503153	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aaaggaaatacaaccagcttCagctggagaagggacagaca	11	8	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:90503153C>T	ENST00000325643.5	+	4	3817	c.3751C>T	c.(3751-3753)Cag>Tag	p.Q1251*		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1251					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAACCAGCTTCAGCTGGAGAA	0.557																																																	0													68	67	68					9																	90503153		2203	4300	6503	SO:0001587	stop_gained	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3751C>T	9.37:g.90503153C>T	ENSP00000322640:p.Gln1251*		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Nonsense_Mutation	SNP	NULL	p.Q1251*	ENST00000325643.5	37	c.3751	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	c	36	5.771337	0.96922	.	.	ENSG00000177992	ENST00000325643	.	.	.	2.27	-2.86	0.05717	.	1.771760	0.03731	N	0.253453	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	7.1784	0.25757	0.0:0.3181:0.0:0.6819	.	.	.	.	X	1251	.	ENSP00000322640:Q1251X	Q	+	1	0	C9orf79	89692973	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.440000	0.02412	-0.811000	0.04369	-0.136000	0.14681	CAG	SPATA31E1	-	NULL		0.557	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	C	NM_178828		90503153	1	no_errors	ENST00000325643	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	90503153	C	T	90503153	4	4	182	1	0	0	0	0	0	1	0	0	2502	827	29	1	3765	1	C9orf79	9	90503153	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	8179640	90503153	50710278	87	33996										
S1PR3	1903	genome.wustl.edu	37	chr9	91616521	91616521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tactggccatcgccatcgagCggcacttgacaatgatcaaa	9	12	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:91616521C>T	ENST00000375846.3	+	1	5101	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	S1PR3_ENST00000358157.2_Missense_Mutation_p.R136W			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	136					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CGCCATCGAGCGGCACTTGAC	0.597											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													113	91	98					9																	91616521		2203	4300	6503	SO:0001583	missense	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3167	protein-coding gene	gene with protein product	"sphingosine-1-phosphate receptor 3"	601965	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.406C>T	9.37:g.91616521C>T	ENSP00000365006:p.Arg136Trp	1283	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt	p.R136W	ENST00000375846.3	37	c.406	CCDS6680.1	9	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140389	0.56936	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	D;D	0.97186	-4.28;-4.28	5.04	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98792	0.9593	H	0.95611	3.695	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.99655	1.0992	10	0.87932	D	0	.	14.6989	0.69142	0.5396:0.4604:0.0:0.0	.	136	Q99500	S1PR3_HUMAN	W	136	ENSP00000350878:R136W;ENSP00000365006:R136W	ENSP00000350878:R136W	R	+	1	2	S1PR3	90806341	0.990000	0.36364	0.990000	0.47175	0.938000	0.57974	0.306000	0.19279	0.237000	0.21200	-0.310000	0.09108	CGG	S1PR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.597	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR3	HGNC	protein_coding	OTTHUMT00000052979.2	C	NM_005226		91616521	1	no_errors	ENST00000358157	ensembl	human	known	70_37	missense	SNP	0.997	T	T	91616521	C	T	91616521	3	4	182	1	0	0	0	0	1	0	0	0	13825	759	27	2	408	2	S1PR3	9	91616521	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	1113368	91616521	49596910	88	33997										
FKTN	2218	genome.wustl.edu	37	chr9	108337407	108337407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgtactactacaagcactatTtatcaacaaaggtaatttta	4	7	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:108337407T>C	ENST00000223528.2	+	2	218	c.94T>C	c.(94-96)Tta>Cta	p.L32L	FKTN_ENST00000490134.1_3'UTR|FKTN_ENST00000448551.2_Silent_p.L32L|FKTN_ENST00000357998.5_Silent_p.L32L|FKTN_ENST00000602661.1_Silent_p.L32L|FKTN_ENST00000540160.1_Silent_p.L32L	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	32					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CAAGCACTATTTATCAACAAA	0.323																																																	0													115	107	110					9																	108337407		2202	4300	6502	SO:0001819	synonymous_variant	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.94T>C	9.37:g.108337407T>C			B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom	p.L32	ENST00000223528.2	37	c.94	CCDS6766.1	9																																																																																			FKTN	-	NULL		0.323	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKTN	HGNC	protein_coding	OTTHUMT00000053505.1	T	NM_006731		108337407	1	no_errors	ENST00000223528	ensembl	human	known	70_37	silent	SNP	1.000	C	C	108337407	T	C	108337407	2	2	182	1	0	0	0	0	0	0	0	1	5937	1838	64	5		5	FKTN	9	108337407	Silent	SNP	T	TCGA-Q1-A6DT-01A-11D-A32I-09	16720886	108337407	32876024	89	33998										
RGS3	5998	genome.wustl.edu	37	chr9	116346522	116346522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgcggcgccggacgcacagcGagggcagcctgctgcaggag	18	13	0	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:116346522G>A	ENST00000374140.2	+	21	3039	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	RGS3_ENST00000374134.3_Missense_Mutation_p.E265K|RGS3_ENST00000350696.5_Missense_Mutation_p.E944K|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.E663K|RGS3_ENST00000462143.1_Missense_Mutation_p.E265K|RGS3_ENST00000394646.3_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	944					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GACGCACAGCGAGGGCAGCCT	0.701																																																	0													45	46	46					9																	116346522		2203	4299	6502	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2830G>A	9.37:g.116346522G>A	ENSP00000363255:p.Glu944Lys		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E944K	ENST00000374140.2	37	c.2830	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.174666	0.94807	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;D	0.89617	0.3;0.3;-0.15;-0.34;-0.34;-2.54	5.52	5.52	0.82312	.	0.130064	0.49916	D	0.000126	D	0.91365	0.7276	L	0.34521	1.04	0.80722	D	1	D;P;D;P;P;P	0.89917	1.0;0.903;1.0;0.903;0.844;0.916	D;B;D;B;B;B	0.91635	0.999;0.247;0.998;0.247;0.125;0.329	D	0.92016	0.5622	10	0.62326	D	0.03	.	16.1652	0.81750	0.0:0.0:1.0:0.0	.	283;840;265;663;834;944	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	K	944;944;663;112;265;265;110	ENSP00000363255:E944K;ENSP00000259406:E944K;ENSP00000340284:E663K;ENSP00000420356:E265K;ENSP00000363249:E265K;ENSP00000417994:E110K	ENSP00000340284:E663K	E	+	1	0	RGS3	115386343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.195000	0.77798	2.576000	0.86940	0.555000	0.69702	GAG	RGS3	-	NULL		0.701	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	G	NM_017790		116346522	1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116346522	G	A	116346522	3	1	182	1	0	0	0	0	1	0	0	0	13336	1059	37	1	3161	1	RGS3	9	116346522	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	8009115	116346522	24866909	90	33999										
PAPPA	5069	genome.wustl.edu	37	chr9	119094720	119094720	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ccatcagcgtgcagctgcttGataccaaagatcagagccac	9	13	2	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:119094720G>A	ENST00000328252.3	+	12	3739	c.3370G>A	c.(3370-3372)Gat>Aat	p.D1124N	PAPPA_ENST00000534838.1_Missense_Mutation_p.D162N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1124					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCAGCTGCTTGATACCAAAGA	0.507																																																	0													158	130	139					9																	119094720		2203	4300	6503	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3370G>A	9.37:g.119094720G>A	ENSP00000330658:p.Asp1124Asn		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D1124N	ENST00000328252.3	37	c.3370	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.792255	0.96945	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.08008	4.13;3.14	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.04294	-1.0962	10	0.87932	D	0	-20.8523	20.6439	0.99570	0.0:0.0:1.0:0.0	.	162;1124	F5GZ19;Q13219	.;PAPP1_HUMAN	N	1124;162	ENSP00000330658:D1124N;ENSP00000441461:D162N	ENSP00000330658:D1124N	D	+	1	0	PAPPA	118134541	1.000000	0.71417	0.981000	0.43875	0.963000	0.63663	9.358000	0.97109	2.884000	0.98904	0.655000	0.94253	GAT	PAPPA	-	NULL		0.507	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	G	NM_002581		119094720	1	no_errors	ENST00000328252	ensembl	human	known	70_37	missense	SNP	1.000	A	A	119094720	G	A	119094720	3	1	182	1	0	0	0	0	1	0	0	0	11456	1290	45	1	3416	1	PAPPA	9	119094720	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2748198	119094720	22118711	91	34000										
TRIM32	22954	genome.wustl.edu	37	chr9	119460693	119460693	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agtcaagtggtagaggagcaGagttacctgcttaacattgc	12	7	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:119460693G>C	ENST00000450136.1	+	2	833	c.672G>C	c.(670-672)caG>caC	p.Q224H	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.Q224H	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	224					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TAGAGGAGCAGAGTTACCTGC	0.532																																					Esophageal Squamous(92;212 1916 19711 26951)												0													75	68	70					9																	119460693		2203	4300	6503	SO:0001583	missense	22954			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.672G>C	9.37:g.119460693G>C	ENSP00000408292:p.Gln224His		Q9NQP8	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q224H	ENST00000450136.1	37	c.672	CCDS6817.1	9	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119623	0.37436	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.64803	-0.12;-0.12	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	T	0.66036	0.2749	L	0.29908	0.895	0.49051	D	0.999746	D	0.65815	0.995	D	0.74674	0.984	T	0.63708	-0.6576	9	.	.	.	-19.4755	10.695	0.45894	0.1479:0.0:0.8521:0.0	.	224	Q13049	TRI32_HUMAN	H	224	ENSP00000408292:Q224H;ENSP00000363095:Q224H	.	Q	+	3	2	TRIM32	118500514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.723000	0.47277	2.486000	0.83907	0.655000	0.94253	CAG	TRIM32	-	NULL		0.532	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM32	HGNC	protein_coding	OTTHUMT00000055466.2	G	NM_012210		119460693	1	no_errors	ENST00000373983	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119460693	G	C	119460693	3	2	182	1	0	0	0	0	1	0	0	0	16537	933	33	1	674	1	TRIM32	9	119460693	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	365973	119460693	21752738	92	34001										
OR1N2	138882	genome.wustl.edu	37	chr9	125315488	125315488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcagatcacacgaactacaaGggatgggaaaaccaggcaga	12	9	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:125315488G>A	ENST00000373688.2	+	1	98	c.40G>A	c.(40-42)Ggg>Agg	p.G14R		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CGAACTACAAGGGATGGGAAA	0.453																																																	0													99	98	98					9																	125315488		2203	4300	6503	SO:0001583	missense	138882				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.40G>A	9.37:g.125315488G>A	ENSP00000362792:p.Gly14Arg		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G14R	ENST00000373688.2	37	c.40	CCDS35123.1	9	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304469	0.01353	.	.	ENSG00000171501	ENST00000373688	T	0.00382	7.62	3.71	0.426	0.16479	.	1.391580	0.05579	U	0.572573	T	0.00210	0.0006	N	0.14661	0.345	0.25616	N	0.986451	B	0.06786	0.001	B	0.04013	0.001	T	0.21042	-1.0257	10	0.25751	T	0.34	.	6.4881	0.22099	0.6196:0.0:0.3804:0.0	.	14	Q8NGR9	OR1N2_HUMAN	R	14	ENSP00000362792:G14R	ENSP00000362792:G14R	G	+	1	0	OR1N2	124355309	0.000000	0.05858	0.685000	0.30070	0.558000	0.35554	0.014000	0.13333	-0.018000	0.14079	0.644000	0.83932	GGG	OR1N2	-	NULL		0.453	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N2	HGNC	protein_coding	OTTHUMT00000053937.2	G			125315488	1	no_errors	ENST00000373688	ensembl	human	known	70_37	missense	SNP	0.944	A	A	125315488	G	A	125315488	3	1	182	1	0	0	0	0	1	0	0	0	10994	1000	35	4	42	4	OR1N2	9	125315488	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	5854795	125315488	15897943	93	34002										
TRUB2	26995	genome.wustl.edu	37	chr9	131071960	131071960	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctccagctctgcagctacctGaggggtagcagcccggatag	13	13	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:131071960G>C	ENST00000372890.4	-	8	1198	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	TRUB2_ENST00000460320.1_5'Flank|TRUB2_ENST00000546104.1_Missense_Mutation_p.Q233E	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	289					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GCAGCTACCTGAGGGGTAGCA	0.652																																																	0													53	51	51					9																	131071960		2203	4300	6503	SO:0001583	missense	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.865C>G	9.37:g.131071960G>C	ENSP00000361982:p.Gln289Glu		B7Z7G5	Missense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom	p.Q289E	ENST00000372890.4	37	c.865	CCDS6897.1	9	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530800	0.27387	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.16196	2.36;2.36	5.68	3.85	0.44370	Pseudouridine synthase, catalytic domain (1);	0.296736	0.29594	N	0.011707	T	0.08268	0.0206	N	0.14661	0.345	0.21184	N	0.999766	B	0.12013	0.005	B	0.11329	0.006	T	0.38436	-0.9661	10	0.02654	T	1	-20.5685	10.6271	0.45514	0.0:0.1119:0.5714:0.3167	.	289	O95900	TRUB2_HUMAN	E	289;233	ENSP00000361982:Q289E;ENSP00000438084:Q233E	ENSP00000361982:Q289E	Q	-	1	0	TRUB2	130111781	1.000000	0.71417	0.986000	0.45419	0.386000	0.30323	3.358000	0.52284	0.753000	0.32945	0.561000	0.74099	CAG	TRUB2	-	superfamily_PsdUridine_synth_cat_dom		0.652	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB2	HGNC	protein_coding	OTTHUMT00000054419.1	G	NM_015679		131071960	-1	no_errors	ENST00000372890	ensembl	human	known	70_37	missense	SNP	0.993	C	C	131071960	G	C	131071960	3	2	182	1	0	0	0	0	1	0	0	0	16634	1299	45	1	134	1	TRUB2	9	131071960	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	5756472	131071960	10141471	94	34003			1	139		3	3	1235	G		2.791817e-05
TRUB2	26995	genome.wustl.edu	37	chr9	131072039	131072039	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agggcactgtctagcgtgaaGaagccgtcgcgcgtgcgccg	16	12	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:131072039G>A	ENST00000372890.4	-	8	1119	c.786C>T	c.(784-786)ttC>ttT	p.F262F	TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Silent_p.F206F	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	262					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CTAGCGTGAAGAAGCCGTCGC	0.582																																																	0													94	83	87					9																	131072039		2203	4300	6503	SO:0001819	synonymous_variant	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.786C>T	9.37:g.131072039G>A			B7Z7G5	Silent	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom	p.F262	ENST00000372890.4	37	c.786	CCDS6897.1	9																																																																																			TRUB2	-	superfamily_PsdUridine_synth_cat_dom		0.582	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB2	HGNC	protein_coding	OTTHUMT00000054419.1	G	NM_015679		131072039	-1	no_errors	ENST00000372890	ensembl	human	known	70_37	silent	SNP	0.985	A	A	131072039	G	A	131072039	2	1	182	1	0	0	0	0	0	0	0	1	16634	933	33	1		1	TRUB2	9	131072039	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	79	131072039	10141392	95	34004			1	139		3	3	1235	G		2.791817e-05
TRUB2	26995	genome.wustl.edu	37	chr9	131073194	131073194	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aattccggaggtgcaaagtaGaggcatcggatgccagttat	13	7	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:131073194G>A	ENST00000372890.4	-	7	975	c.642C>T	c.(640-642)ctC>ctT	p.L214L	TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Silent_p.L158L	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	214					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GTGCAAAGTAGAGGCATCGGA	0.562																																																	0													136	130	132					9																	131073194		2203	4300	6503	SO:0001819	synonymous_variant	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.642C>T	9.37:g.131073194G>A			B7Z7G5	Silent	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom	p.L214	ENST00000372890.4	37	c.642	CCDS6897.1	9																																																																																			TRUB2	-	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom		0.562	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB2	HGNC	protein_coding	OTTHUMT00000054419.1	G	NM_015679		131073194	-1	no_errors	ENST00000372890	ensembl	human	known	70_37	silent	SNP	0.953	A	A	131073194	G	A	131073194	2	1	182	1	0	0	0	0	0	0	0	1	16634	929	33	1		1	TRUB2	9	131073194	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	1155	131073194	10140237	96	34005			1	139		3	3	1235	G		2.791817e-05
GTF3C5	9328	genome.wustl.edu	37	chr9	135919210	135919210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tcatgctccggcccgagaagGaggcctttttccaccaggag	12	13	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr9:135919210G>A	ENST00000372097.5	+	3	792	c.469G>A	c.(469-471)Gag>Aag	p.E157K	GTF3C5_ENST00000342018.8_Missense_Mutation_p.E157K|GTF3C5_ENST00000372099.6_Missense_Mutation_p.E148K|GTF3C5_ENST00000372108.5_Missense_Mutation_p.E157K|GTF3C5_ENST00000372095.5_Missense_Mutation_p.E32K|GTF3C5_ENST00000485692.1_3'UTR	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	157					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCCCGAGAAGGAGGCCTTTTT	0.587																																																	0													100	95	97					9																	135919210		2203	4300	6503	SO:0001583	missense	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.469G>A	9.37:g.135919210G>A	ENSP00000361169:p.Glu157Lys		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	pfam_TF_IIIC_su-5	p.E157K	ENST00000372097.5	37	c.469	CCDS6958.1	9	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118652	0.56505	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697	T;T;T;T	0.48522	0.83;0.81;0.82;0.86	4.98	4.06	0.47325	.	0.052541	0.85682	D	0.000000	T	0.37265	0.0997	L	0.38175	1.15	0.44862	D	0.997878	P;B;P	0.41978	0.767;0.236;0.465	B;B;B	0.42245	0.288;0.122;0.381	T	0.13150	-1.0520	10	0.06757	T	0.87	0.0369	14.2611	0.66085	0.0:0.1501:0.8499:0.0	.	32;157;157	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.;.;TF3C5_HUMAN	K	157;110;148;32;7;157;157;32	ENSP00000361169:E157K;ENSP00000361171:E148K;ENSP00000361180:E157K;ENSP00000339530:E157K	ENSP00000339530:E157K	E	+	1	0	GTF3C5	134909031	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	4.185000	0.58330	1.031000	0.39867	0.563000	0.77884	GAG	GTF3C5	-	pfam_TF_IIIC_su-5		0.587	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	G	NM_001122823		135919210	1	no_errors	ENST00000372108	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135919210	G	A	135919210	3	1	182	1	0	0	0	0	1	0	0	0	6896	1175	41	1	479	1	GTF3C5	9	135919210	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	4846016	135919210	5294221	97	34006										
C10orf10	11067	genome.wustl.edu	37	chr10	45473403	45473403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgggggctcctgtccaggacCcccaagcagcatctcctccg	11	17	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr10:45473403C>T	ENST00000298295.3	-	2	293	c.76G>A	c.(76-78)Ggt>Agt	p.G26S	RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	26						mitochondrion (GO:0005739)				lung(1)	1						TGTCCAGGACCCCCAAGCAGC	0.627																																																	0													47	51	50					10																	45473403		2202	4295	6497	SO:0001583	missense	11067			AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"decidual protein induced by progesterone", "fasting induced", "fat-specific expressed gene"	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.76G>A	10.37:g.45473403C>T	ENSP00000298295:p.Gly26Ser		B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	NULL	p.G26S	ENST00000298295.3	37	c.76	CCDS7210.1	10	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964408	0.18583	.	.	ENSG00000165507	ENST00000298295;ENST00000432283;ENST00000448778	T;T	0.42131	0.98;0.98	5.39	2.24	0.28232	.	0.548954	0.15700	N	0.248988	T	0.27731	0.0682	N	0.17082	0.46	0.09310	N	1	P	0.40431	0.717	P	0.44990	0.466	T	0.06373	-1.0830	10	0.45353	T	0.12	-10.3363	3.759	0.08596	0.1693:0.5754:0.164:0.0913	.	26	Q9NTK1	DEPP_HUMAN	S	26	ENSP00000298295:G26S;ENSP00000414494:G26S	ENSP00000298295:G26S	G	-	1	0	C10orf10	44793409	0.000000	0.05858	0.002000	0.10522	0.266000	0.26442	0.035000	0.13797	1.249000	0.43950	0.561000	0.74099	GGT	C10orf10	-	NULL		0.627	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf10	HGNC	protein_coding	OTTHUMT00000047758.1	C	NM_007021		45473403	-1	no_errors	ENST00000298295	ensembl	human	known	70_37	missense	SNP	0.000	T	T	45473403	C	T	45473403	3	4	182	1	0	0	0	0	1	0	0	0	1583	623	22	4	566	4	C10orf10	10	45473403	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		45473403	90061344	98	34007										
SLC18A3	6572	genome.wustl.edu	37	chr10	50819456	50819456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cgctggccttcattagcttcGgaagcctagtggccccgccc	11	16	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr10:50819456G>A	ENST00000374115.3	+	1	1110	c.670G>A	c.(670-672)Gga>Aga	p.G224R	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	224					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CATTAGCTTCGGAAGCCTAGT	0.642																																																	0													23	29	27					10																	50819456		2203	4300	6503	SO:0001583	missense	6572			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.670G>A	10.37:g.50819456G>A	ENSP00000363229:p.Gly224Arg		B2R7S1	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G224R	ENST00000374115.3	37	c.670	CCDS7231.1	10	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935374	0.92458	.	.	ENSG00000187714	ENST00000374115	T	0.77877	-1.13	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000002	D	0.91751	0.7391	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93912	0.7198	10	0.87932	D	0	-0.5111	18.8783	0.92347	0.0:0.0:1.0:0.0	.	224	Q16572	VACHT_HUMAN	R	224	ENSP00000363229:G224R	ENSP00000363229:G224R	G	+	1	0	SLC18A3	50489462	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.620000	0.98373	2.464000	0.83262	0.561000	0.74099	GGA	SLC18A3	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	G	NM_003055		50819456	1	no_errors	ENST00000374115	ensembl	human	known	70_37	missense	SNP	1.000	A	A	50819456	G	A	50819456	3	1	182	1	0	0	0	0	1	0	0	0	14457	1117	39	2	672	2	SLC18A3	10	50819456	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	5346053	50819456	84715291	99	34008										
A1CF	29974	genome.wustl.edu	37	chr10	52601652	52601652	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aattattaagttgcttgattGcattcttggcttccacttta	6	7	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr10:52601652G>C	ENST00000373993.1	-	3	379	c.335C>G	c.(334-336)gCa>gGa	p.A112G	A1CF_ENST00000373997.3_Missense_Mutation_p.A112G|A1CF_ENST00000282641.2_Missense_Mutation_p.A112G|A1CF_ENST00000374001.2_Missense_Mutation_p.A112G|A1CF_ENST00000395489.2_Missense_Mutation_p.A105G|A1CF_ENST00000373995.3_Missense_Mutation_p.A120G|A1CF_ENST00000395495.1_Missense_Mutation_p.A112G			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	112	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGCTTGATTGCATTCTTGGC	0.313																																																	0													164	152	156					10																	52601652		2201	4299	6500	SO:0001583	missense	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.335C>G	10.37:g.52601652G>C	ENSP00000363105:p.Ala112Gly		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.A112G	ENST00000373993.1	37	c.335	CCDS7242.1	10	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949815	0.92660	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	H	0.96748	3.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.996;0.996;0.992	T	0.82843	-0.0257	10	0.87932	D	0	-6.4962	17.4703	0.87645	0.0:0.0:1.0:0.0	.	105;112;112;120	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	G	112;112;112;120;112;112;95;105;112	ENSP00000363113:A112G;ENSP00000363105:A112G;ENSP00000363109:A112G;ENSP00000363107:A120G;ENSP00000282641:A112G;ENSP00000378873:A112G;ENSP00000378868:A105G;ENSP00000397953:A112G	ENSP00000282641:A112G	A	-	2	0	A1CF	52271658	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.767000	0.98960	2.733000	0.93635	0.467000	0.42956	GCA	A1CF	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.313	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	HGNC	protein_coding	OTTHUMT00000048086.2	G	NM_014576		52601652	-1	no_errors	ENST00000282641	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52601652	G	C	52601652	3	2	182	1	0	0	0	0	1	0	0	0	2	1319	46	4	1485	4	A1CF	10	52601652	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	1782196	52601652	82933095	100	34009										
SYNPO2L	79933	genome.wustl.edu	37	chr10	75407373	75407373	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aagttgcaggcttcagccccGaggctcagagcatcttcttc	10	13	4	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr10:75407373G>C	ENST00000394810.2	-	4	2186	c.2037C>G	c.(2035-2037)ctC>ctG	p.L679L	SYNPO2L_ENST00000372873.4_Silent_p.L455L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	679	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CTTCAGCCCCGAGGCTCAGAG	0.597																																																	0													74	85	81					10																	75407373		2203	4300	6503	SO:0001819	synonymous_variant	79933			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2037C>G	10.37:g.75407373G>C			A5PKV9|Q68A20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L679	ENST00000394810.2	37	c.2037	CCDS44438.1	10																																																																																			SYNPO2L	-	NULL		0.597	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2	G	NM_024875		75407373	-1	no_errors	ENST00000394810	ensembl	human	known	70_37	silent	SNP	0.959	C	C	75407373	G	C	75407373	2	2	182	1	0	0	0	0	0	0	0	1	15488	1045	37	1		1	SYNPO2L	10	75407373	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	22805721	75407373	60127374	101	34010										
FAM178A	55719	genome.wustl.edu	37	chr10	102684122	102684122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgcaattaaaaaagctagcaAccttcagaaaaataaaaccg	5	8	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr10:102684122A>G	ENST00000238961.4	+	5	1906	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	FAM178A_ENST00000370269.3_Missense_Mutation_p.N455S|FAM178A_ENST00000370271.3_Missense_Mutation_p.N455S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	455						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAAGCTAGCAACCTTCAGAAA	0.428																																																	0													85	99	94					10																	102684122		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1364A>G	10.37:g.102684122A>G	ENSP00000238961:p.Asn455Ser		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.N455S	ENST00000238961.4	37	c.1364	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	A	7.141	0.581900	0.13749	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.49139	0.79;1.46;1.45	5.95	-4.94	0.03057	.	0.340721	0.25723	N	0.028724	T	0.23926	0.0579	N	0.24115	0.695	0.29396	N	0.862257	B;B;B;B	0.16603	0.006;0.0;0.0;0.018	B;B;B;B	0.14578	0.005;0.001;0.001;0.011	T	0.37337	-0.9710	10	0.09084	T	0.74	-0.7891	11.2088	0.48786	0.1949:0.1406:0.6646:0.0	.	104;455;455;455	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	S	455	ENSP00000359294:N455S;ENSP00000238961:N455S;ENSP00000359292:N455S	ENSP00000238961:N455S	N	+	2	0	FAM178A	102674112	0.524000	0.26282	0.955000	0.39395	0.709000	0.40893	-0.400000	0.07241	-0.782000	0.04541	-0.256000	0.11100	AAC	FAM178A	-	NULL		0.428	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	A			102684122	1	no_errors	ENST00000370269	ensembl	human	known	70_37	missense	SNP	0.956	G	G	102684122	A	G	102684122	3	3	182	1	0	0	0	0	1	0	0	0	5518	43	2	5	1382	5	FAM178A	10	102684122	Missense_Mutation	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	27276749	102684122	32850625	102	34011										
HPS6	79803	genome.wustl.edu	37	chr10	103827104	103827104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ggcctgaggctctggagctaGagctgctcttgagcagtggg	17	9	2	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr10:103827104G>C	ENST00000299238.5	+	1	1958	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	625					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCTGGAGCTAGAGCTGCTCTT	0.667									Hermansky-Pudlak syndrome																																								0													46	46	46					10																	103827104		2203	4300	6503	SO:0001583	missense	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1873G>C	10.37:g.103827104G>C	ENSP00000299238:p.Glu625Gln		Q5VV69|Q9H685	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps6_subunit	p.E625Q	ENST00000299238.5	37	c.1873	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703868	0.68501	.	.	ENSG00000166189	ENST00000299238	T	0.80824	-1.42	5.12	5.12	0.69794	.	0.111999	0.64402	D	0.000013	D	0.85035	0.5605	L	0.55481	1.735	0.50813	D	0.999894	D	0.55800	0.973	P	0.55161	0.77	D	0.85335	0.1092	10	0.51188	T	0.08	-5.8629	18.7368	0.91757	0.0:0.0:1.0:0.0	.	625	Q86YV9	HPS6_HUMAN	Q	625	ENSP00000299238:E625Q	ENSP00000299238:E625Q	E	+	1	0	HPS6	103817094	1.000000	0.71417	0.956000	0.39512	0.937000	0.57800	9.471000	0.97696	2.669000	0.90835	0.561000	0.74099	GAG	HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit		0.667	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2	G	NM_024747		103827104	1	no_errors	ENST00000299238	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103827104	G	C	103827104	3	2	182	1	0	0	0	0	1	0	0	0	7363	943	33	1	1875	1	HPS6	10	103827104	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	1142982	103827104	31707643	103	34012										
VWA2	340706	genome.wustl.edu	37	chr10	116048803	116048803	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tttgtgagaagctgtgccctCcagtttgaggtgaaccctga	12	9	0	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr10:116048803C>T	ENST00000392982.3	+	12	1927	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	VWA2_ENST00000603594.1_Silent_p.L559L			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	559	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCTGTGCCCTCCAGTTTGAGG	0.592																																																	0													76	71	73					10																	116048803		2203	4300	6503	SO:0001819	synonymous_variant	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1677C>T	10.37:g.116048803C>T			A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.L559	ENST00000392982.3	37	c.1677		10																																																																																			VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.592	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	C	NM_198496		116048803	1	no_errors	ENST00000392982	ensembl	human	known	70_37	silent	SNP	0.253	T	T	116048803	C	T	116048803	2	4	182	1	0	0	0	0	0	0	0	1	17270	842	30	1		1	VWA2	10	116048803	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	12221699	116048803	19485944	104	34013										
MUC2	4583	genome.wustl.edu	37	chr11	1086013	1086013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	caccacgtggcctacaccacGcgggaggtgggccagtacct	13	15	0	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:1086013G>A	ENST00000441003.2	+	22	2880	c.2853G>A	c.(2851-2853)acG>acA	p.T951T	MUC2_ENST00000359061.5_Silent_p.T951T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	951	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTACACCACGCGGGAGGTGG	0.617																																																	0													47	54	52					11																	1086013		2143	4228	6371	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2853G>A	11.37:g.1086013G>A			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T951	ENST00000441003.2	37	c.2853		11																																																																																			MUC2	-	pfam_VWF_type-D,smart_VWF_type-D		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1086013	1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1086013	G	A	1086013	2	1	182	1	0	0	0	0	0	0	0	1	9998	1074	38	2		2	MUC2	11	1086013	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		1086013	133920503	105	34014										
TSSC4	10078	genome.wustl.edu	37	chr11	2424522	2424522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	catcttcaccaaaccagtccGaggggtcgaagccagacacg	10	14	2	1	rs375904217		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:2424522G>A	ENST00000333256.6	+	3	1102	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TSSC4_ENST00000380996.5_Missense_Mutation_p.R156Q|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000451491.2_Missense_Mutation_p.R220Q|TSSC4_ENST00000380992.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	220										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACCAGTCCGAGGGGTCGAA	0.662																																																	0								G	GLN/ARG	0,4402		0,0,2201	45	51	48		659	2.9	0.1	11		48	1,8597	1.2+/-3.3	0,1,4298	no	missense	TSSC4	NM_005706.2	43	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	220/330	2424522	1,12999	2201	4299	6500	SO:0001583	missense	10078			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.659G>A	11.37:g.2424522G>A	ENSP00000331087:p.Arg220Gln		C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	NULL	p.R220Q	ENST00000333256.6	37	c.659	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079848	0.36662	0.0	1.16E-4	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000440813;ENST00000451491	T;T;T;T	0.28069	1.94;2.19;1.63;2.19	2.92	2.92	0.33932	.	0.293880	0.26234	U	0.025542	T	0.41880	0.1178	M	0.70595	2.14	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.58620	0.794;0.842	T	0.23261	-1.0193	10	0.59425	D	0.04	-6.126	4.28	0.10827	0.2799:0.0:0.7201:0.0	.	220;156	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	Q	156;220;156;220	ENSP00000370384:R156Q;ENSP00000331087:R220Q;ENSP00000416937:R156Q;ENSP00000411224:R220Q	ENSP00000331087:R220Q	R	+	2	0	TSSC4	2381098	0.015000	0.18098	0.063000	0.19743	0.219000	0.24729	1.964000	0.40462	1.966000	0.57179	0.462000	0.41574	CGA	TSSC4	-	NULL		0.662	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	G	NM_005706		2424522	1	no_errors	ENST00000333256	ensembl	human	known	70_37	missense	SNP	0.044	A	A	2424522	G	A	2424522	3	1	182	1	0	0	0	0	1	0	0	0	16698	1058	37	1	661	1	TSSC4	11	2424522	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	1338509	2424522	132581994	106	34015										
OR52W1	120787	genome.wustl.edu	37	chr11	6221355	6221355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ccccctcatctatggggcccGcaccaagcagatcagagacc	9	17	3	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:6221355G>A	ENST00000311352.2	+	1	980	c.902G>A	c.(901-903)cGc>cAc	p.R301H	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGGGGCCCGCACCAAGCAG	0.532																																																	0													144	156	152					11																	6221355		2201	4296	6497	SO:0001583	missense	120787			AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"GPCR / Class A : Olfactory receptors"	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.902G>A	11.37:g.6221355G>A	ENSP00000309673:p.Arg301His		Q8NH78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.R301H	ENST00000311352.2	37	c.902	CCDS31407.1	11	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357516	0.41801	.	.	ENSG00000175485	ENST00000311352	T	0.41065	1.01	4.59	3.65	0.41850	.	0.000000	0.39274	N	0.001402	T	0.72574	0.3477	H	0.97465	4.01	0.31171	N	0.703213	D	0.89917	1.0	D	0.71656	0.974	T	0.78326	-0.2247	10	0.87932	D	0	.	8.9852	0.35990	0.1728:0.0:0.8272:0.0	.	301	Q6IF63	O52W1_HUMAN	H	301	ENSP00000309673:R301H	ENSP00000309673:R301H	R	+	2	0	OR52W1	6177931	0.003000	0.15002	0.924000	0.36721	0.899000	0.52679	0.962000	0.29280	1.237000	0.43756	0.563000	0.77884	CGC	OR52W1	-	prints_Olfact_rcpt		0.532	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52W1	HGNC	protein_coding	OTTHUMT00000383758.1	G	NM_001005178		6221355	1	no_errors	ENST00000311352	ensembl	human	known	70_37	missense	SNP	0.749	A	A	6221355	G	A	6221355	3	1	182	1	0	0	0	0	1	0	0	0	11156	1087	38	2	904	2	OR52W1	11	6221355	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	3796833	6221355	128785161	107	34016										
C11orf17	56672	genome.wustl.edu	37	chr11	8934001	8934001	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gtgccatttattcaaatagaGagaagagagacccccaaccc	8	11	1	4	rs537025239		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:8934001G>C	ENST00000309377.4	+	3	314	c.224G>C	c.(223-225)aGa>aCa	p.R75T	AKIP1_ENST00000396648.2_Intron|AKIP1_ENST00000525005.1_Splice_Site_p.R75T|AKIP1_ENST00000534147.1_Splice_Site_p.R75T|AKIP1_ENST00000529876.1_Intron|ST5_ENST00000534127.1_5'Flank|AKIP1_ENST00000534506.1_Intron|AKIP1_ENST00000309357.4_Splice_Site_p.R75T|AKIP1_ENST00000299576.5_Intron	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	75					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(2)	5						TTCAAATAGAGAGAAGAGAGA	0.423																																																	0													115	103	107					11																	8934001		2201	4296	6497	SO:0001630	splice_region_variant	56672			AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"chromosome 11 open reading frame 17"	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.223-1G>C	11.37:g.8934001G>C			Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Missense_Mutation	SNP	NULL	p.R75T	ENST00000309377.4	37	c.224	CCDS7793.1	11	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706169	0.48412	.	.	ENSG00000166452	ENST00000309377;ENST00000309357;ENST00000525005;ENST00000524577;ENST00000534147	T;T;T;T;T	0.38077	1.21;1.3;1.16;1.19;1.21	4.92	4.01	0.46588	.	0.210963	0.39615	N	0.001320	T	0.51295	0.1666	M	0.72479	2.2	0.32814	D	0.501857	D;P;D	0.76494	0.999;0.745;0.989	P;B;P	0.62298	0.9;0.354;0.836	T	0.62604	-0.6819	10	0.39692	T	0.17	-5.1761	9.1922	0.37207	0.0984:0.0:0.9016:0.0	.	75;75;75	B4DGE2;Q9NQ31-2;Q9NQ31	.;.;AKIP1_HUMAN	T	75	ENSP00000310459:R75T;ENSP00000310644:R75T;ENSP00000433510:R75T;ENSP00000434785:R75T;ENSP00000431331:R75T	ENSP00000310644:R75T	R	+	2	0	AKIP1	8890577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.648000	0.37271	1.434000	0.47414	0.563000	0.77884	AGA	AKIP1	-	NULL		0.423	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKIP1	HGNC	protein_coding	OTTHUMT00000385615.1	G	NM_020642	Missense_Mutation	8934001	1	no_errors	ENST00000309377	ensembl	human	known	70_37	missense	SNP	1.000	C	C	8934001	G	C	8934001	5	2	182	1	0	0	0	0	0	0	1	0	1636	956	33	1	230	1	C11orf17	11	8934001	Splice_Site	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2712646	8934001	126072515	108	34017										
OR9Q2	219957	genome.wustl.edu	37	chr11	57958484	57958484	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttttgtggaaacaatgagatCaacttcattttctgtgacct	7	7	3	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:57958484C>G	ENST00000311591.3	+	1	579	c.522C>G	c.(520-522)atC>atG	p.I174M		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I174M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACAATGAGATCAACTTCATTT	0.473																																																	1	Substitution - Missense(1)	breast(1)											118	110	113					11																	57958484		2201	4296	6497	SO:0001583	missense	219957			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.522C>G	11.37:g.57958484C>G	ENSP00000308714:p.Ile174Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I174M	ENST00000311591.3	37	c.522	CCDS31544.1	11	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197283	0.38806	.	.	ENSG00000186513	ENST00000311591	T	0.00220	8.52	5.08	-1.12	0.09808	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000168	T	0.00580	0.0019	M	0.93197	3.39	0.09310	N	0.999997	D	0.69078	0.997	D	0.72625	0.978	T	0.37865	-0.9687	10	0.87932	D	0	-30.4592	7.2926	0.26374	0.0:0.3847:0.117:0.4984	.	174	Q8NGE9	OR9Q2_HUMAN	M	174	ENSP00000308714:I174M	ENSP00000308714:I174M	I	+	3	3	OR9Q2	57715060	0.000000	0.05858	0.245000	0.24217	0.838000	0.47535	-1.244000	0.02902	-0.071000	0.12886	0.655000	0.94253	ATC	OR9Q2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.473	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q2	HGNC	protein_coding	OTTHUMT00000394540.1	C	NM_001005283		57958484	1	no_errors	ENST00000311591	ensembl	human	known	70_37	missense	SNP	0.002	G	G	57958484	C	G	57958484	3	3	182	1	0	0	0	0	1	0	0	0	11280	816	29	1	524	1	OR9Q2	11	57958484	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	49024483	57958484	77048032	109	34018										
OR5A2	219981	genome.wustl.edu	37	chr11	59189567	59189567	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	taaaactgtagatgatgggaTtcaccacggggatcaccaag	11	8	2	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:59189567T>A	ENST00000302040.4	-	1	882	c.860A>T	c.(859-861)aAt>aTt	p.N287I		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GATGATGGGATTCACCACGGG	0.468																																																	0													82	78	80					11																	59189567		2201	4295	6496	SO:0001583	missense	219981			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.860A>T	11.37:g.59189567T>A	ENSP00000303834:p.Asn287Ile		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N287I	ENST00000302040.4	37	c.860	CCDS31560.1	11	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263340	0.80358	.	.	ENSG00000172324	ENST00000302040	T	0.59638	0.25	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37136	U	0.002234	T	0.70640	0.3247	L	0.51422	1.61	0.40260	D	0.978162	D	0.89917	1.0	D	0.91635	0.999	T	0.74275	-0.3718	10	0.87932	D	0	.	13.9746	0.64265	0.0:0.0:0.0:1.0	.	287	Q8NGI9	OR5A2_HUMAN	I	287	ENSP00000303834:N287I	ENSP00000303834:N287I	N	-	2	0	OR5A2	58946143	1.000000	0.71417	0.640000	0.29408	0.695000	0.40330	6.142000	0.71750	2.253000	0.74438	0.533000	0.62120	AAT	OR5A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.468	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A2	HGNC	protein_coding	OTTHUMT00000394552.1	T	NM_001001954		59189567	-1	no_errors	ENST00000302040	ensembl	human	known	70_37	missense	SNP	0.998	A	A	59189567	T	A	59189567	3	1	182	1	0	0	0	0	1	0	0	0	11164	1493	52	5	116	5	OR5A2	11	59189567	Missense_Mutation	SNP	T	TCGA-Q1-A6DT-01A-11D-A32I-09	1231083	59189567	75816949	110	34019										
ZFPL1	7542	genome.wustl.edu	37	chr11	64854019	64854019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cctggctggccccgtggcctCcgcactgagagagaagctgg	15	14	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:64854019C>T	ENST00000294258.3	+	4	499	c.347C>T	c.(346-348)tCc>tTc	p.S116F	CDCA5_ENST00000275517.3_5'Flank|CDCA5_ENST00000404147.3_5'Flank|AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	116					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCCGTGGCCTCCGCACTGAGA	0.657																																																	0													65	71	69					11																	64854019		2201	4297	6498	SO:0001583	missense	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.347C>T	11.37:g.64854019C>T	ENSP00000294258:p.Ser116Phe		A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.S116F	ENST00000294258.3	37	c.347	CCDS8092.1	11	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713635	0.30413	.	.	ENSG00000162300	ENST00000294258;ENST00000526334;ENST00000526945;ENST00000532200	T	0.46063	0.88	5.49	4.57	0.56435	.	0.235401	0.42821	D	0.000660	T	0.32852	0.0843	L	0.38175	1.15	0.80722	D	1	P	0.39157	0.662	B	0.36845	0.234	T	0.16100	-1.0414	10	0.49607	T	0.09	-20.9878	12.4269	0.55553	0.0:0.9159:0.0:0.0841	.	116	O95159	ZFPL1_HUMAN	F	116;116;110;116	ENSP00000294258:S116F	ENSP00000294258:S116F	S	+	2	0	ZFPL1	64610595	0.942000	0.31987	0.906000	0.35671	0.050000	0.14768	3.187000	0.50950	2.578000	0.87016	0.462000	0.41574	TCC	ZFPL1	-	NULL		0.657	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	C	NM_006782		64854019	1	no_errors	ENST00000294258	ensembl	human	known	70_37	missense	SNP	0.771	T	T	64854019	C	T	64854019	3	4	182	1	0	0	0	0	1	0	0	0	17686	855	30	1	357	1	ZFPL1	11	64854019	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	5664452	64854019	70152497	111	34020										
ANKRD13D	338692	genome.wustl.edu	37	chr11	67059210	67059210	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cggaggagcttcatcttcaaGggccagggtgagctctggac	15	10	4	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:67059210G>C	ENST00000447274.2	+	5	1448	c.273G>C	c.(271-273)aaG>aaC	p.K91N	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.K178N|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.K91N|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.K91N			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	91						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCATCTTCAAGGGCCAGGGTG	0.612																																																	0													55	51	52					11																	67059210		2200	4295	6495	SO:0001583	missense	338692			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.273G>C	11.37:g.67059210G>C	ENSP00000402616:p.Lys91Asn		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.K178N	ENST00000447274.2	37	c.534		11	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446909	0.63178	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	3.75	3.75	0.43078	.	0.234051	0.33092	N	0.005284	T	0.50939	0.1645	L	0.41124	1.26	0.51012	D	0.999905	D;B	0.55385	0.971;0.389	P;B	0.61658	0.892;0.16	T	0.38735	-0.9647	10	0.25751	T	0.34	-21.5801	9.3779	0.38295	0.106:0.0:0.894:0.0	.	178;91	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	N	91;178;91;91	ENSP00000402616:K91N;ENSP00000427130:K178N;ENSP00000310874:K91N;ENSP00000444404:K91N	ENSP00000310874:K91N	K	+	3	2	ANKRD13D	66815786	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.840000	0.39230	2.118000	0.64928	0.561000	0.74099	AAG	ANKRD13D	-	pfam_ANKRD13		0.612	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	G	NM_207354		67059210	1	no_errors	ENST00000511455	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67059210	G	C	67059210	3	2	182	1	0	0	0	0	1	0	0	0	644	991	35	4	552	4	ANKRD13D	11	67059210	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2205191	67059210	67947306	112	34021										
HYOU1	10525	genome.wustl.edu	37	chr11	118922230	118922230	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tggctgtagcggttaaaggtGatgactttgcgttgagggta	16	4	0	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:118922230G>C	ENST00000404233.3	-	13	1570	c.1446C>G	c.(1444-1446)atC>atG	p.I482M	HYOU1_ENST00000543287.1_Missense_Mutation_p.I395M|HYOU1_ENST00000529972.1_Missense_Mutation_p.I482M|HYOU1_ENST00000525859.1_Missense_Mutation_p.I482M	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	482					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGTTAAAGGTGATGACTTTGC	0.562																																																	0													219	182	194					11																	118922230		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1446C>G	11.37:g.118922230G>C	ENSP00000384144:p.Ile482Met		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I482M	ENST00000404233.3	37	c.1446	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291815	0.40594	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.01059	5.39;5.39;5.39;5.39;5.39	5.26	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.02380	0.0073	L	0.53729	1.69	0.58432	D	0.999996	P;P;P;P	0.44776	0.843;0.711;0.587;0.587	P;P;B;B	0.48815	0.591;0.482;0.383;0.383	T	0.65228	-0.6219	10	0.34782	T	0.22	-25.0627	10.7583	0.46249	0.0774:0.0:0.7873:0.1353	.	473;526;482;482	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	M	482;473;482;482;331;482;525;395;482	ENSP00000384144:I482M;ENSP00000437313:I482M;ENSP00000433397:I482M;ENSP00000442727:I395M;ENSP00000431874:I482M	ENSP00000278752:I473M	I	-	3	3	HYOU1	118427440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.488000	0.53229	1.430000	0.47334	-0.182000	0.12963	ATC	HYOU1	-	pfam_Hsp_70_fam		0.562	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	G	NM_006389		118922230	-1	no_errors	ENST00000404233	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118922230	G	C	118922230	3	2	182	1	0	0	0	0	1	0	0	0	7490	1280	45	1	1609	1	HYOU1	11	118922230	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	51863020	118922230	16084286	113	34022										
OR10S1	219873	genome.wustl.edu	37	chr11	123848062	123848062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gtggaagcaataaagctgtaCggcacagccctcaaaggaga	12	9	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr11:123848062C>T	ENST00000531945.1	-	1	426	c.337G>A	c.(337-339)Gta>Ata	p.V113I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAAAGCTGTACGGCACAGCCC	0.537																																																	0													97	75	82					11																	123848062		2202	4299	6501	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.337G>A	11.37:g.123848062C>T	ENSP00000431914:p.Val113Ile		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V113I	ENST00000531945.1	37	c.337	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	C	8.614	0.889724	0.17540	.	.	ENSG00000196248	ENST00000531945	T	0.02974	4.09	4.74	-5.02	0.02982	GPCR, rhodopsin-like superfamily (1);	1.043970	0.07721	N	0.943597	T	0.01092	0.0036	N	0.02266	-0.62	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47522	-0.9111	10	0.33940	T	0.23	-0.1205	2.7527	0.05285	0.1006:0.2512:0.1984:0.4497	.	113	Q8NGN2	O10S1_HUMAN	I	113	ENSP00000431914:V113I	ENSP00000431914:V113I	V	-	1	0	OR10S1	123353272	0.000000	0.05858	0.000000	0.03702	0.691000	0.40173	-2.589000	0.00900	-0.919000	0.03803	0.573000	0.79308	GTA	OR10S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.537	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	HGNC	protein_coding	OTTHUMT00000387265.2	C	NM_001004474		123848062	-1	no_errors	ENST00000531945	ensembl	human	known	70_37	missense	SNP	0.000	T	T	123848062	C	T	123848062	3	4	182	1	0	0	0	0	1	0	0	0	10942	536	19	2	662	2	OR10S1	11	123848062	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	4925832	123848062	11158454	114	34023										
C12orf11	55726	genome.wustl.edu	37	chr12	27068991	27068991	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttcactaattgaaggtggatCttctagaatggatcgagaac	10	6	3	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr12:27068991C>G	ENST00000261191.7	-	11	1728	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	ASUN_ENST00000539625.1_Missense_Mutation_p.D297H	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	398					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAAGGTGGATCTTCTAGAATG	0.378																																																	0													84	78	80					12																	27068991		2203	4300	6503	SO:0001583	missense	55726			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1192G>C	12.37:g.27068991C>G	ENSP00000261191:p.Asp398His		B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	pfam_Cell_cycle_regulator_Mat89Bb	p.D398H	ENST00000261191.7	37	c.1192	CCDS8708.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.976271|4.976271	0.92982|0.92982	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745|ENST00000542392	T;T;T|.	0.50001|.	0.76;0.76;0.76|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78052|0.78052	0.4223|0.4223	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.997|.	T|T	0.75150|0.75150	-0.3419|-0.3419	10|5	0.87932|.	D|.	0|.	-30.309|-30.309	20.5471|20.5471	0.99284|0.99284	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	398;297|.	Q9NVM9;B4DNK1|.	M89BB_HUMAN;.|.	H|T	102;398;297;42|111	ENSP00000445645:D102H;ENSP00000261191:D398H;ENSP00000443724:D297H|.	ENSP00000261191:D398H|.	D|R	-|-	1|2	0|0	C12orf11|C12orf11	26960258|26960258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.758000|7.758000	0.85224|0.85224	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|AGA	ASUN	-	pfam_Cell_cycle_regulator_Mat89Bb		0.378	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASUN	HGNC	protein_coding	OTTHUMT00000402819.1	C	NM_018164		27068991	-1	no_errors	ENST00000261191	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27068991	C	G	27068991	3	3	182	1	0	0	0	0	1	0	0	0	1679	913	32	1	956	1	C12orf11	12	27068991	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		27068991	106782904	115	34024										
SLC26A10	65012	genome.wustl.edu	37	chr12	58019078	58019078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gtgtcacctttgcagatgctGctggggccagagaagtggtg	16	8	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr12:58019078G>A	ENST00000320442.4	+	12	1749	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	480	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TGCAGATGCTGCTGGGGCCAG	0.547																																																	0													200	186	191					12																	58019078		2203	4300	6503	SO:0001583	missense	65012				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1438G>A	12.37:g.58019078G>A	ENSP00000320217:p.Ala480Thr		A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.A480T	ENST00000320442.4	37	c.1438	CCDS8949.2	12	.	.	.	.	.	.	.	.	.	.	.	17.55	3.418484	0.62622	.	.	ENSG00000135502	ENST00000320442	D	0.88046	-2.33	4.4	2.48	0.30137	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	D	0.86900	0.6044	L	0.42529	1.33	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.82230	-0.0560	9	0.08599	T	0.76	.	6.6838	0.23134	0.0989:0.0:0.7196:0.1815	.	480	Q8NG04	S2610_HUMAN	T	480	ENSP00000320217:A480T	ENSP00000320217:A480T	A	+	1	0	SLC26A10	56305345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.718000	0.54919	1.147000	0.42369	0.655000	0.94253	GCT	SLC26A10	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom		0.547	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A10	HGNC	protein_coding	OTTHUMT00000250311.2	G			58019078	1	no_errors	ENST00000320442	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58019078	G	A	58019078	3	1	182	1	0	0	0	0	1	0	0	0	14545	1319	46	4	1484	4	SLC26A10	12	58019078	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	30950087	58019078	75832817	116	34025										
PTPRR	5801	genome.wustl.edu	37	chr12	71286716	71286716	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cggcttcccactcttcttctGattaattgccaaaaaatgat	5	11	3	2	rs200295461		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr12:71286716G>A	ENST00000283228.2	-	2	552	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	34					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTCTTCTTCTGATTAATTGCC	0.388																																																	0													103	109	107					12																	71286716		2203	4300	6503	SO:0001587	stop_gained	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.100C>T	12.37:g.71286716G>A	ENSP00000283228:p.Gln34*		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt	p.Q34*	ENST00000283228.2	37	c.100	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.224654	0.99106	.	.	ENSG00000153233	ENST00000283228	.	.	.	5.86	5.86	0.93980	.	0.000000	0.37669	U	0.002000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.7829	19.1878	0.93651	0.0:0.0:1.0:0.0	.	.	.	.	X	34	.	ENSP00000283228:Q34X	Q	-	1	0	PTPRR	69572983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.764000	0.74960	2.776000	0.95493	0.650000	0.86243	CAG	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5		0.388	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	G	NM_002849		71286716	-1	no_errors	ENST00000283228	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	71286716	G	A	71286716	4	1	182	1	0	0	0	0	0	1	0	0	12840	1299	45	1	1925	1	PTPRR	12	71286716	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	13267638	71286716	62565179	117	34026										
CAMKK2	10645	genome.wustl.edu	37	chr12	121693424	121693424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cagagagtggtttgagggtgGgcacttccatcacgggcctg	16	9	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr12:121693424G>T	ENST00000324774.5	-	9	1664	c.836C>A	c.(835-837)cCc>cAc	p.P279H	CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P279H|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P279H|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P279H|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P279H|CAMKK2_ENST00000545538.1_Missense_Mutation_p.P66H|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P279H|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P279H|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P279H|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P279H|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P279H	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTTGAGGGTGGGCACTTCCAT	0.582																																																	0													77	72	74					12																	121693424		2203	4300	6503	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.836C>A	12.37:g.121693424G>T	ENSP00000312741:p.Pro279His		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P279H	ENST00000324774.5	37	c.836	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297844	0.81025	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	L	0.37466	1.105	0.80722	D	1	D;D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.76;1.0;1.0;1.0	D;D;D;D;P;D;D;D	0.97110	0.987;0.993;0.998;0.995;0.563;0.999;1.0;0.998	T	0.75789	-0.3194	10	0.87932	D	0	-12.938	17.5254	0.87799	0.0:0.0:1.0:0.0	.	279;279;279;66;279;279;279;279	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	H	279;279;279;279;279;66;279;279;262;279;279	ENSP00000376266:P279H;ENSP00000321230:P279H;ENSP00000445944:P279H;ENSP00000336634:P279H;ENSP00000312741:P279H;ENSP00000441352:P66H;ENSP00000388368:P279H;ENSP00000384600:P279H;ENSP00000388273:P279H;ENSP00000376265:P279H	ENSP00000312741:P279H	P	-	2	0	CAMKK2	120177807	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.091000	0.94151	2.368000	0.80403	0.655000	0.94253	CCC	CAMKK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.582	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	G	NM_172226		121693424	-1	no_errors	ENST00000324774	ensembl	human	known	70_37	missense	SNP	1.000	T	T	121693424	G	T	121693424	3	4	182	1	0	0	0	0	1	0	0	0	2612	1232	43	4	976	4	CAMKK2	12	121693424	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	50406708	121693424	12158471	118	34027										
FLT1	2321	genome.wustl.edu	37	chr13	28942801	28942801	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgacgttgatgtatacagttCtaggtacacagtaaataatc	8	6	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr13:28942801C>G	ENST00000282397.4	-	15	2368				FLT1_ENST00000541932.1_Splice_Site	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	gTATACAGTTCTAGGTACACA	0.373																																																	0													546	523	530					13																	28942801		692	1591	2283	SO:0001627	intron_variant	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2117-10979G>C	13.37:g.28942801C>G			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Splice_Site	SNP	-	e15-1	ENST00000282397.4	37	c.2117-1	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	3.095	-0.185972	0.06340	.	.	ENSG00000102755	ENST00000541932	.	.	.	1.1	0.132	0.14762	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8765	0.13658	0.0:0.6057:0.3943:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT1	27840801	0.084000	0.21492	0.005000	0.12908	0.067000	0.16453	0.211000	0.17474	0.018000	0.15052	0.460000	0.39030	.	FLT1	-	-		0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	C			28942801	-1	no_errors	ENST00000541932	ensembl	human	known	70_37	splice_site	SNP	0.006	G	G	28942801	C	G	28942801	1	3	182	0	1	0	0	0	0	0	0	0	5959	927	32	1		1	FLT1	13	28942801	Intron	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		28942801	86227077	119	34028										
PCDH17	27253	genome.wustl.edu	37	chr13	58299233	58299233	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cccttcatggcttccgatcaGatggcaagggtctttgcaga	11	11	3	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr13:58299233G>C	ENST00000377918.3	+	4	3311	c.3285G>C	c.(3283-3285)caG>caC	p.Q1095H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1095					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTTCCGATCAGATGGCAAGGG	0.542																																					Melanoma(72;952 1291 1619 12849 33676)												0													143	140	141					13																	58299233		2203	4300	6503	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3285G>C	13.37:g.58299233G>C	ENSP00000367151:p.Gln1095His		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1095H	ENST00000377918.3	37	c.3285	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	7.412	0.634885	0.14322	.	.	ENSG00000118946	ENST00000377918	T	0.53857	0.6	5.96	5.96	0.96718	.	0.059165	0.64402	D	0.000001	T	0.35970	0.0950	N	0.08118	0	0.30818	N	0.738096	P	0.42785	0.79	B	0.38500	0.275	T	0.21793	-1.0235	9	.	.	.	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	1095	O14917	PCD17_HUMAN	H	1095	ENSP00000367151:Q1095H	.	Q	+	3	2	PCDH17	57197234	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	3.287000	0.51732	2.826000	0.97356	0.655000	0.94253	CAG	PCDH17	-	NULL		0.542	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	G	NM_001040429		58299233	1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	1.000	C	C	58299233	G	C	58299233	3	2	182	1	0	0	0	0	1	0	0	0	11536	933	33	1	3299	1	PCDH17	13	58299233	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	29356432	58299233	56870645	120	34029										
GPC5	2262	genome.wustl.edu	37	chr13	92345909	92345909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cccgcactgccaaggcctggCgctcactaagccttgtatgg	11	15	1	0	rs150834424	byFrequency	TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr13:92345909C>T	ENST00000377067.3	+	3	1166	c.794C>T	c.(793-795)gCg>gTg	p.A265V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	265					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAAGGCCTGGCGCTCACTAAG	0.547													C|||	8	0.00159744	0.0045	0.0014	5008	,	,		19659	0		0	False		,,,				2504	0.001																0								C	VAL/ALA	11,4395	17.9+/-39.9	0,11,2192	82	74	77		794	1.7	0.4	13	dbSNP_134	77	0,8600		0,0,4300	yes	missense	GPC5	NM_004466.4	64	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	benign	265/573	92345909	11,12995	2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.794C>T	13.37:g.92345909C>T	ENSP00000366267:p.Ala265Val		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.A265V	ENST00000377067.3	37	c.794	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	C	0.177	-1.066286	0.01934	0.002497	0.0	ENSG00000179399	ENST00000377067	T	0.49432	0.78	5.45	1.67	0.24075	Glypican, conserved site (1);	0.199841	0.52532	D	0.000080	T	0.33059	0.0850	L	0.43152	1.355	0.09310	N	1	B	0.24258	0.1	B	0.22753	0.041	T	0.17289	-1.0374	10	0.23891	T	0.37	-5.9162	6.1403	0.20257	0.0:0.5288:0.1215:0.3497	.	265	P78333	GPC5_HUMAN	V	265	ENSP00000366267:A265V	ENSP00000366267:A265V	A	+	2	0	GPC5	91143910	0.043000	0.20138	0.374000	0.26016	0.169000	0.22640	0.568000	0.23623	-0.004000	0.14419	0.585000	0.79938	GCG	GPC5	-	pfam_Glypican		0.547	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	C	NM_004466		92345909	1	no_errors	ENST00000377067	ensembl	human	known	70_37	missense	SNP	0.251	T	T	92345909	C	T	92345909	3	4	182	1	0	0	0	0	1	0	0	0	6620	768	27	2	804	2	GPC5	13	92345909	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	34046676	92345909	22823969	121	34030										
DOCK9	23348	genome.wustl.edu	37	chr13	99481710	99481710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctcatgctccttcatctgggCggtggccattagcaccgtgc	11	14	3	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr13:99481710C>T	ENST00000376460.1	-	43	4827	c.4747G>A	c.(4747-4749)Gcc>Acc	p.A1583T	DOCK9-AS1_ENST00000439367.1_RNA|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1584					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATCTGGGCGGTGGCCATT	0.547																																																	0													85	83	83					13																	99481710		2098	4230	6328	SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4747G>A	13.37:g.99481710C>T	ENSP00000365643:p.Ala1583Thr		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A1584T	ENST00000376460.1	37	c.4750	CCDS45062.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.373236|5.373236	0.95923|0.95923	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000340449|ENST00000400228	T;T;T|.	0.69175|.	2.3;2.39;-0.38|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.052677|.	0.85682|.	D|.	0.000000|.	D|D	0.84624|0.84624	0.5513|0.5513	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P;D;D|.	0.63880|.	0.991;0.962;0.967;0.984;0.993;0.782;0.967;0.98|.	P;P;P;P;P;B;P;P|.	0.59761|.	0.691;0.734;0.631;0.651;0.863;0.261;0.631;0.796|.	D|D	0.85147|0.85147	0.0984|0.0984	10|5	0.87932|.	D|.	0|.	.|.	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1584;303;227;1583;227;1584;276;226|.	A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4|.	.;.;.;.;.;DOCK9_HUMAN;.;.|.	T|H	1583;1584;1576;1584;1583;514;1584;226;227|170	ENSP00000365643:A1583T;ENSP00000341086:A1584T;ENSP00000344702:A227T|.	ENSP00000341086:A1584T|.	A|R	-|-	1|2	0|0	DOCK9|DOCK9	98279711|98279711	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.996000|0.996000	0.88848|0.88848	5.667000|5.667000	0.68067|0.68067	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GCC|CGC	DOCK9	-	NULL		0.547	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	C	NM_015296		99481710	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	missense	SNP	0.998	T	T	99481710	C	T	99481710	3	4	182	1	0	0	0	0	1	0	0	0	4704	768	27	2	1511	2	DOCK9	13	99481710	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	7135801	99481710	15688168	122	34031										
PRKD1	5587	genome.wustl.edu	37	chr14	30396556	30396556	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cggctcacggctcaggccgaTctgcagatggaacgagatgc	14	12	3	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr14:30396556T>A	ENST00000331968.5	-	1	392	c.163A>T	c.(163-165)Atc>Ttc	p.I55F	PRKD1_ENST00000415220.2_Missense_Mutation_p.I55F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	55					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTCAGGCCGATCTGCAGATGG	0.711																																																	0													11	10	11					14																	30396556		2168	4260	6428	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.163A>T	14.37:g.30396556T>A	ENSP00000333568:p.Ile55Phe		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.I55F	ENST00000331968.5	37	c.163	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707512	0.48412	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.67345	-0.26;-0.26	3.9	3.9	0.45041	.	0.000000	0.56097	U	0.000026	T	0.55593	0.1930	L	0.42245	1.32	0.58432	D	0.999999	B	0.14438	0.01	B	0.19148	0.024	T	0.49707	-0.8911	10	0.15499	T	0.54	-6.8746	12.4006	0.55410	0.0:0.0:0.0:1.0	.	55	Q15139	KPCD1_HUMAN	F	55	ENSP00000333568:I55F;ENSP00000390535:I55F	ENSP00000333568:I55F	I	-	1	0	PRKD1	29466307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.987000	0.63857	1.407000	0.46875	0.377000	0.23210	ATC	PRKD1	-	NULL		0.711	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	T	NM_002742		30396556	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30396556	T	A	30396556	3	1	182	1	0	0	0	0	1	0	0	0	12545	1435	50	5	2647	5	PRKD1	14	30396556	Missense_Mutation	SNP	T	TCGA-Q1-A6DT-01A-11D-A32I-09		30396556	76952984	123	34032										
PROX2	283571	genome.wustl.edu	37	chr14	75329962	75329962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tccttgctggtaccttgctgGtggtcaccgtccacaaccca	9	15	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr14:75329962G>T	ENST00000445876.1	-	1	575	c.576C>A	c.(574-576)caC>caA	p.H192Q	PROX2_ENST00000556489.2_Missense_Mutation_p.H192Q|PROX2_ENST00000556084.2_Missense_Mutation_p.H192Q			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	192					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TACCTTGCTGGTGGTCACCGT	0.597																																																	0													41	40	40					14																	75329962		1962	4127	6089	SO:0001583	missense	283571				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"Homeoboxes / PROS class"	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.576C>A	14.37:g.75329962G>T	ENSP00000405932:p.His192Gln		C9J5W1|Q8N9Q3	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.H192Q	ENST00000445876.1	37	c.576	CCDS45136.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.862|9.862	1.196595|1.196595	0.22037|0.22037	.|.	.|.	ENSG00000119608|ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876|ENST00000556084	T;T|.	0.40756|.	1.02;1.02|.	5.28|5.28	-0.198|-0.198	0.13224|0.13224	.|.	0.841842|.	0.10763|.	N|.	0.636871|.	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B|.	0.17667|.	0.008;0.023|.	B;B|.	0.11329|.	0.006;0.004|.	T|T	0.26883|0.26883	-1.0090|-1.0090	10|5	0.25106|.	T|.	0.35|.	-0.0877|-0.0877	1.1257|1.1257	0.01734|0.01734	0.2679:0.3045:0.2865:0.1412|0.2679:0.3045:0.2865:0.1412	.|.	192;192|.	G3V3G0;Q3B8N5-2|.	.;.|.	Q|N	192|192	ENSP00000451223:H192Q;ENSP00000405932:H192Q|.	ENSP00000374315:H192Q|.	H|T	-|-	3|2	2|0	PROX2|PROX2	74399715|74399715	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.252000|0.252000	0.25951|0.25951	-0.038000|-0.038000	0.12144|0.12144	0.066000|0.066000	0.16515|0.16515	0.555000|0.555000	0.69702|0.69702	CAC|ACC	PROX2	-	NULL		0.597	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		G			75329962	-1	no_errors	ENST00000445876	ensembl	human	known	70_37	missense	SNP	0.000	T	T	75329962	G	T	75329962	3	4	182	1	0	0	0	0	1	0	0	0	12588	1252	44	4	1218	4	PROX2	14	75329962	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	44933406	75329962	32019578	124	34033										
ESRRB	2103	genome.wustl.edu	37	chr14	76957920	76957920	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gtgtacgctgaggactacatCatggatgaggagcactcccg	13	10	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr14:76957920C>T	ENST00000509242.1	+	7	1016	c.918C>T	c.(916-918)atC>atT	p.I306I	ESRRB_ENST00000556177.1_Silent_p.I306I|ESRRB_ENST00000261532.7_Silent_p.I306I|ESRRB_ENST00000380887.2_Silent_p.I306I	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	306					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGGACTACATCATGGATGAGG	0.602																																																	0													60	47	51					14																	76957920		2201	4299	6500	SO:0001819	synonymous_variant	2103			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.918C>T	14.37:g.76957920C>T			A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.I306	ENST00000509242.1	37	c.918	CCDS9850.2	14																																																																																			ESRRB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.602	ESRRB-003	KNOWN	basic|CCDS	protein_coding	ESRRB	HGNC	protein_coding	OTTHUMT00000360663.1	C			76957920	1	no_errors	ENST00000380887	ensembl	human	known	70_37	silent	SNP	1.000	T	T	76957920	C	T	76957920	2	4	182	1	0	0	0	0	0	0	0	1	5273	816	29	1		1	ESRRB	14	76957920	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	1627958	76957920	30391620	125	34034										
NRXN3	9369	genome.wustl.edu	37	chr14	79270053	79270053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ggcagaggatgtgtccttccGcttcatgtcccagcgagctt	12	12	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr14:79270053G>A	ENST00000554719.1	+	6	1507	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R339H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	116					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTGTCCTTCCGCTTCATGTCC	0.567																																																	0													203	147	166					14																	79270053		2203	4300	6503	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1016G>A	14.37:g.79270053G>A	ENSP00000451648:p.Arg339His		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.R710H	ENST00000554719.1	37	c.2129	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.250422	0.95305	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79749	-1.3;-1.3	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.89235	0.3580	8	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	712;339	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	712;710;339;339	ENSP00000451648:R339H;ENSP00000338349:R339H	.	R	+	2	0	NRXN3	78339806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGC	NRXN3	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.567	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	G	NM_001105250		79270053	1	no_errors	ENST00000554738	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79270053	G	A	79270053	3	1	182	1	0	0	0	0	1	0	0	0	10691	1087	38	2	1030	2	NRXN3	14	79270053	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2312133	79270053	28079487	126	34035										
FBLN5	10516	genome.wustl.edu	37	chr14	92361324	92361324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gccttccagaagccaatatcCgtcggtgcaggagcaggtgt	13	11	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr14:92361324C>T	ENST00000342058.4	-	5	1065	c.472G>A	c.(472-474)Gga>Aga	p.G158R	FBLN5_ENST00000556154.1_Missense_Mutation_p.G163R|FBLN5_ENST00000267620.10_Missense_Mutation_p.G199R	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	158	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGCCAATATCCGTCGGTGCAG	0.537																																																	0													108	87	94					14																	92361324		2203	4300	6503	SO:0001583	missense	10516			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.472G>A	14.37:g.92361324C>T	ENSP00000345008:p.Gly158Arg		O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.G158R	ENST00000342058.4	37	c.472	CCDS9898.1	14	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023421	0.75390	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.92752	-3.1;-3.08;-3.1	5.26	5.26	0.73747	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98794	1.0737	10	0.87932	D	0	.	18.891	0.92403	0.0:1.0:0.0:0.0	.	199;163;158	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	R	199;158;163	ENSP00000267620:G199R;ENSP00000345008:G158R;ENSP00000451982:G163R	ENSP00000267620:G255R	G	-	1	0	FBLN5	91431077	1.000000	0.71417	0.093000	0.20910	0.229000	0.25112	7.395000	0.79876	2.465000	0.83290	0.655000	0.94253	GGA	FBLN5	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.537	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBLN5	HGNC	protein_coding	OTTHUMT00000411787.1	C			92361324	-1	no_errors	ENST00000342058	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92361324	C	T	92361324	3	4	182	1	0	0	0	0	1	0	0	0	5718	661	23	2	902	2	FBLN5	14	92361324	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	13091271	92361324	14988216	127	34036										
TNFAIP2	7127	genome.wustl.edu	37	chr14	103592960	103592960	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aagggaagaagaagaagggtCagcccagctcagcggagccc	15	10	2	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr14:103592960C>T	ENST00000560869.1	+	2	805	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	TNFAIP2_ENST00000333007.1_Nonsense_Mutation_p.Q56*|TNFAIP2_ENST00000451723.2_5'Flank			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	56					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GAAGAAGGGTCAGCCCAGCTC	0.607																																																	0													15	15	15					14																	103592960		2135	4233	6368	SO:0001587	stop_gained	7127				CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"exocyst complex component 3-like 3"	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.166C>T	14.37:g.103592960C>T	ENSP00000452634:p.Gln56*		Q86VI0	Nonsense_Mutation	SNP	pfam_Sec6	p.Q56*	ENST00000560869.1	37	c.166	CCDS9979.1	14	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289023	0.59976	.	.	ENSG00000185215	ENST00000333007	.	.	.	4.1	3.21	0.36854	.	0.899723	0.09406	N	0.806572	.	.	.	.	.	.	0.21105	N	0.999785	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.576	7.6888	0.28557	0.0:0.8833:0.0:0.1167	.	.	.	.	X	56	.	ENSP00000332326:Q56X	Q	+	1	0	TNFAIP2	102662713	0.012000	0.17670	0.011000	0.14972	0.424000	0.31475	1.774000	0.38573	1.059000	0.40554	0.561000	0.74099	CAG	TNFAIP2	-	NULL		0.607	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP2	HGNC	protein_coding	OTTHUMT00000415674.1	C	NM_006291		103592960	1	no_errors	ENST00000333007	ensembl	human	known	70_37	nonsense	SNP	0.010	T	T	103592960	C	T	103592960	4	4	182	1	0	0	0	0	0	1	0	0	16303	827	29	1	168	1	TNFAIP2	14	103592960	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	11231636	103592960	3756580	128	34037										
GABRA5	2558	genome.wustl.edu	37	chr15	27193366	27193366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agccggtgataaaaggagccGcctctccaaaataaccggcc	10	13	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr15:27193366G>A	ENST00000335625.5	+	11	2263	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	GABRA5_ENST00000355395.5_Missense_Mutation_p.A459T|GABRA5_ENST00000400081.3_Missense_Mutation_p.A459T	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	459					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.A459T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AAAAGGAGCCGCCTCTCCAAA	0.483																																																	1	Substitution - Missense(1)	endometrium(1)											15	16	16					15																	27193366		1775	3933	5708	SO:0001583	missense	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1375G>A	15.37:g.27193366G>A	ENSP00000335592:p.Ala459Thr		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A459T	ENST00000335625.5	37	c.1375	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	G	1.622	-0.521227	0.04171	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	T;T;T	0.70869	-0.52;-0.52;-0.52	5.06	-1.98	0.07480	.	0.625964	0.15791	N	0.244425	T	0.39809	0.1092	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36768	-0.9734	10	0.02654	T	1	.	10.8797	0.46931	0.8007:0.0:0.1993:0.0	.	459	P31644	GBRA5_HUMAN	T	459	ENSP00000335592:A459T;ENSP00000347557:A459T;ENSP00000382953:A459T	ENSP00000335592:A459T	A	+	1	0	GABRA5	24776112	0.030000	0.19436	0.065000	0.19835	0.718000	0.41266	0.749000	0.26320	-0.158000	0.11040	0.655000	0.94253	GCC	GABRA5	-	prints_GABBAa5_rcpt		0.483	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	G			27193366	1	no_errors	ENST00000335625	ensembl	human	known	70_37	missense	SNP	0.001	A	A	27193366	G	A	27193366	3	1	182	1	0	0	0	0	1	0	0	0	6182	1087	38	2	1409	2	GABRA5	15	27193366	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		27193366	75338026	129	34038										
CHRFAM7A	89832	genome.wustl.edu	37	chr15	30665323	30665323	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aagggaaaccagcgtacatcGatgtagcaggaactcttgaa	11	8	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr15:30665323G>A	ENST00000299847.2	-	6	639	c.186C>T	c.(184-186)atC>atT	p.I62I	CHRFAM7A_ENST00000567722.1_5'UTR|CHRFAM7A_ENST00000397827.3_5'UTR|CHRFAM7A_ENST00000401522.3_5'UTR	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	62						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		AGCGTACATCGATGTAGCAGG	0.498																																																	0																																										SO:0001819	synonymous_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.186C>T	15.37:g.30665323G>A			A8KAB9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.I62	ENST00000299847.2	37	c.186	CCDS32184.1	15																																																																																			CHRFAM7A	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.498	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	HGNC	protein_coding	OTTHUMT00000430700.1	G	NM_148911		30665323	-1	no_errors	ENST00000299847	ensembl	human	known	70_37	silent	SNP	0.864	A	A	30665323	G	A	30665323	2	1	182	1	0	0	0	0	0	0	0	1	3380	1048	37	1		1	CHRFAM7A	15	30665323	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	3471957	30665323	71866069	130	34039										
ARHGAP11A	9824	genome.wustl.edu	37	chr15	32928987	32928987	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ggtgaaaaatgtttttcagaGagggacttttcaccccttca	9	8	3	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr15:32928987G>C	ENST00000361627.3	+	12	2735	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E482D|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E482D	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	671					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GTTTTTCAGAGAGGGACTTTT	0.323																																					Colon(45;757 1134 30003 36652)												0													23	25	24					15																	32928987		2160	4271	6431	SO:0001583	missense	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2013G>C	15.37:g.32928987G>C	ENSP00000355090:p.Glu671Asp		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E671D	ENST00000361627.3	37	c.2013	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	.	2.923	-0.222745	0.06061	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10382	2.88	4.91	1.08	0.20341	.	0.098647	0.44483	D	0.000444	T	0.09686	0.0238	M	0.65498	2.005	0.09310	N	0.999995	P	0.43094	0.799	B	0.35931	0.214	T	0.21449	-1.0245	10	0.72032	D	0.01	.	4.992	0.14218	0.4866:0.0:0.3732:0.1403	.	671	Q6P4F7	RHGBA_HUMAN	D	671;482	ENSP00000355090:E671D	ENSP00000355090:E671D	E	+	3	2	ARHGAP11A	30716279	0.082000	0.21442	0.304000	0.25085	0.042000	0.13812	0.339000	0.19875	0.318000	0.23185	-0.312000	0.09012	GAG	ARHGAP11A	-	NULL		0.323	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	G	NM_014783		32928987	1	no_errors	ENST00000361627	ensembl	human	known	70_37	missense	SNP	0.161	C	C	32928987	G	C	32928987	3	2	182	1	0	0	0	0	1	0	0	0	863	933	33	1	2082	1	ARHGAP11A	15	32928987	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2263664	32928987	69602405	131	34040										
ACTC1	70	genome.wustl.edu	37	chr15	35086922	35086922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gatggacgggaagacagcgcGgggcgcgtcatcgcccgcaa	17	12	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr15:35086922G>A	ENST00000290378.4	-	2	743	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	30					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAGACAGCGCGGGGCGCGTCA	0.682																																																	0													35	39	38					15																	35086922		2198	4293	6491	SO:0001583	missense	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.88C>T	15.37:g.35086922G>A	ENSP00000290378:p.Arg30Cys		P04270	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R30C	ENST00000290378.4	37	c.88	CCDS10041.1	15	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169695	0.57584	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.95137	-3.62	4.21	3.25	0.37280	.	0.000000	0.49916	U	0.000123	D	0.97573	0.9205	H	0.95645	3.7	0.80722	D	1	D	0.55385	0.971	D	0.63113	0.911	D	0.97677	1.0170	10	0.87932	D	0	.	11.6901	0.51510	0.0:0.0:0.5951:0.4049	.	30	P68032	ACTC_HUMAN	C	30	ENSP00000290378:R30C	ENSP00000290378:R30C	R	-	1	0	ACTC1	32874214	1.000000	0.71417	0.982000	0.44146	0.870000	0.49936	2.927000	0.48900	0.826000	0.34661	0.561000	0.74099	CGC	ACTC1	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.682	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	HGNC	protein_coding	OTTHUMT00000251876.3	G	NM_005159		35086922	-1	no_errors	ENST00000290378	ensembl	human	known	70_37	missense	SNP	0.997	A	A	35086922	G	A	35086922	3	1	182	1	0	0	0	0	1	0	0	0	195	1116	39	2	1069	2	ACTC1	15	35086922	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2157935	35086922	67444470	132	34041										
SEMA6D	80031	genome.wustl.edu	37	chr15	48056979	48056979	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gatgagccctggttcacaaaGactcgggtcaggtgagattg	14	8	2	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr15:48056979G>C	ENST00000316364.5	+	12	1681	c.1242G>C	c.(1240-1242)aaG>aaC	p.K414N	SEMA6D_ENST00000536845.2_Missense_Mutation_p.K414N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.K414N|SEMA6D_ENST00000389428.3_Missense_Mutation_p.K414N|SEMA6D_ENST00000389425.3_Missense_Mutation_p.K414N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.K414N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.K414N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.K414N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.K414N|SEMA6D_ENST00000537942.1_Missense_Mutation_p.K414N|SEMA6D_ENST00000354744.4_Missense_Mutation_p.K414N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.K414N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	414	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGTTCACAAAGACTCGGGTCA	0.522																																																	0													77	72	74					15																	48056979		2198	4297	6495	SO:0001583	missense	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1242G>C	15.37:g.48056979G>C	ENSP00000324857:p.Lys414Asn		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.K414N	ENST00000316364.5	37	c.1242	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763972	0.49574	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7	5.59	3.73	0.42828	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	L	0.53780	1.695	0.80722	D	1	P;B;P;D;P	0.67145	0.544;0.099;0.544;0.996;0.544	B;B;B;D;B	0.74023	0.236;0.058;0.236;0.982;0.236	T	0.00992	-1.1488	10	0.54805	T	0.06	.	6.9825	0.24711	0.3781:0.0:0.6219:0.0	.	414;414;414;414;414	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	N	414	ENSP00000442040:K414N;ENSP00000446152:K414N;ENSP00000324857:K414N;ENSP00000374084:K414N;ENSP00000374083:K414N;ENSP00000346786:K414N;ENSP00000350770:K414N;ENSP00000374079:K414N;ENSP00000348276:K414N;ENSP00000374076:K414N	ENSP00000324857:K414N	K	+	3	2	SEMA6D	45844271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.462000	0.45049	0.726000	0.32339	0.655000	0.94253	AAG	SEMA6D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.522	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	G	NM_024966		48056979	1	no_errors	ENST00000316364	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48056979	G	C	48056979	3	2	182	1	0	0	0	0	1	0	0	0	14072	933	33	1	1284	1	SEMA6D	15	48056979	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	12970057	48056979	54474413	133	34042										
ZNF609	23060	genome.wustl.edu	37	chr15	64966714	64966714	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctgcaacggtgcatctgtctCacaaaaaggttccttgtccc	8	13	2	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr15:64966714C>G	ENST00000326648.3	+	4	1789	c.1661C>G	c.(1660-1662)tCa>tGa	p.S554*	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	554						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCATCTGTCTCACAAAAAGGT	0.532																																																	0													110	97	101					15																	64966714		2203	4299	6502	SO:0001587	stop_gained	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1661C>G	15.37:g.64966714C>G	ENSP00000316527:p.Ser554*		Q0D2I2	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.S554*	ENST00000326648.3	37	c.1661	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116632	0.37339	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.62	4.69	0.59074	.	0.494643	0.22652	N	0.057302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-3.4595	12.0511	0.53507	0.1363:0.7326:0.1311:0.0	.	.	.	.	X	554	.	ENSP00000316527:S554X	S	+	2	0	ZNF609	62753767	0.162000	0.22906	0.004000	0.12327	0.019000	0.09904	4.035000	0.57297	1.329000	0.45376	0.655000	0.94253	TCA	ZNF609	-	NULL		0.532	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	C	XM_042833		64966714	1	no_errors	ENST00000326648	ensembl	human	known	70_37	nonsense	SNP	0.073	G	G	64966714	C	G	64966714	4	3	182	1	0	0	0	0	0	1	0	0	18065	838	29	1	1675	1	ZNF609	15	64966714	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	16909735	64966714	37564678	134	34043										
SGK269	79834	genome.wustl.edu	37	chr15	77474169	77474169	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	atgggtgatgggtgccttctCagggtctgggggaagctggt	19	6	2	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr15:77474169C>G	ENST00000560626.2	-	4	575	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E34Q|PEAK1_ENST00000558305.1_Missense_Mutation_p.E34Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	34					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGTGCCTTCTCAGGGTCTGGG	0.468																																																	0													150	144	146					15																	77474169		1892	4100	5992	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.100G>C	15.37:g.77474169C>G	ENSP00000452796:p.Glu34Gln		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E34Q	ENST00000560626.2	37	c.100	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694688	0.48202	.	.	ENSG00000173517	ENST00000312493	T	0.69435	-0.4	6.07	6.07	0.98685	.	0.207024	0.18670	U	0.134468	T	0.54287	0.1849	N	0.22421	0.69	0.36492	D	0.868486	P	0.36183	0.542	B	0.36845	0.234	T	0.60332	-0.7284	10	0.35671	T	0.21	-9.4514	13.793	0.63152	0.0:0.9304:0.0:0.0696	.	34	Q9H792	PEAK1_HUMAN	Q	34	ENSP00000309230:E34Q	ENSP00000309230:E34Q	E	-	1	0	AC087465.1	75261224	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.697000	0.68295	2.890000	0.99128	0.650000	0.86243	GAG	PEAK1	-	NULL		0.468	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77474169	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	missense	SNP	1.000	G	G	77474169	C	G	77474169	3	3	182	1	0	0	0	0	1	0	0	0	14241	835	29	1	5156	1	SGK269	15	77474169	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	12507455	77474169	25057223	135	34044										
TARSL2	123283	genome.wustl.edu	37	chr15	102215848	102215848	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	atctctcctaggaagttttcCggccttgttgacaggtttaa	9	9	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr15:102215848C>A	ENST00000335968.3	-	13	1959	c.1743G>T	c.(1741-1743)ccG>ccT	p.P581P		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	581					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAAGTTTTCCGGCCTTGTTG	0.408																																																	0													146	139	141					15																	102215848		2203	4300	6503	SO:0001819	synonymous_variant	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1743G>T	15.37:g.102215848C>A			B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.P581	ENST00000335968.3	37	c.1743	CCDS10394.1	15																																																																																			TARSL2	-	pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa		0.408	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	C	NM_152334		102215848	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	silent	SNP	0.910	A	A	102215848	C	A	102215848	2	1	182	1	0	0	0	0	0	0	0	1	15591	639	23	2		2	TARSL2	15	102215848	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	24741679	102215848	315544	136	34045										
PTX4	390667	genome.wustl.edu	37	chr16	1537772	1537772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcgtgtctactttccggcctCggcgctgcagcttcctcacc	10	17	2	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr16:1537772C>T	ENST00000447419.2	-	2	366	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	PTX4_ENST00000440447.2_Missense_Mutation_p.R114Q|PTX4_ENST00000293922.1_Missense_Mutation_p.R109Q			Q96A99	PTX4_HUMAN	pentraxin 4, long	114						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TTTCCGGCCTCGGCGCTGCAG	0.687																																																	0													37	42	40					16																	1537772		2199	4297	6496	SO:0001583	missense	390667				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.341G>A	16.37:g.1537772C>T	ENSP00000445277:p.Arg114Gln			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.R114Q	ENST00000447419.2	37	c.341		16	.	.	.	.	.	.	.	.	.	.	C	9.966	1.224221	0.22457	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.08546	3.26;3.08	5.55	4.6	0.57074	.	0.309061	0.29273	N	0.012621	T	0.09202	0.0227	L	0.54323	1.7	0.09310	N	1	P	0.50272	0.933	B	0.42087	0.375	T	0.24119	-1.0169	10	0.25106	T	0.35	.	8.7002	0.34320	0.0:0.8279:0.0:0.1721	.	109	Q96A99-2	.	Q	114;109	ENSP00000445277:R114Q;ENSP00000293922:R109Q	ENSP00000293922:R109Q	R	-	2	0	PTX4	1477773	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.506000	0.22658	1.359000	0.45940	-0.291000	0.09656	CGA	PTX4	-	NULL		0.687	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	C	NM_001013658		1537772	-1	no_errors	ENST00000447419	ensembl	human	known	70_37	missense	SNP	0.022	T	T	1537772	C	T	1537772	3	4	182	1	0	0	0	0	1	0	0	0	12853	884	31	1	1102	1	PTX4	16	1537772	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		1537772	88816981	137	34046										
GRIN2A	2903	genome.wustl.edu	37	chr16	9857127	9857127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cataaggcataacatgctccGaaatatacacatcattgtgg	7	9	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr16:9857127G>A	ENST00000396573.2	-	14	4583	c.4274C>T	c.(4273-4275)tCg>tTg	p.S1425L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425L|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425L|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1425			S -> L (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1425L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACATGCTCCGAAATATACAC	0.473																																																	1	Substitution - Missense(1)	skin(1)											79	72	74					16																	9857127		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4274C>T	16.37:g.9857127G>A	ENSP00000379818:p.Ser1425Leu		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S1425L	ENST00000396573.2	37	c.4274	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900828	0.33535	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.11604	2.76;2.76;2.76	5.79	4.83	0.62350	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.334636	0.32593	N	0.005891	T	0.11707	0.0285	L	0.60455	1.87	0.80722	D	1	P	0.40794	0.729	B	0.31869	0.137	T	0.06391	-1.0829	9	.	.	.	.	15.2816	0.73790	0.0:0.0:0.8589:0.1411	.	1425	Q12879	NMDE1_HUMAN	L	1425	ENSP00000379818:S1425L;ENSP00000332549:S1425L;ENSP00000379820:S1425L	.	S	-	2	0	GRIN2A	9764628	1.000000	0.71417	0.315000	0.25238	0.931000	0.56810	5.852000	0.69488	1.425000	0.47237	0.655000	0.94253	TCG	GRIN2A	-	pfam_NMDAR2_C		0.473	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	G			9857127	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	missense	SNP	0.911	A	A	9857127	G	A	9857127	3	1	182	1	0	0	0	0	1	0	0	0	6799	1059	37	1	124	1	GRIN2A	16	9857127	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	8319355	9857127	80497626	138	34047										
DNAH3	55567	genome.wustl.edu	37	chr16	20994204	20994204	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aaggcatcccctattggactCatggctaatgaaaaggagat	10	8	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr16:20994204C>T	ENST00000261383.3	-	49	7697	c.7698G>A	c.(7696-7698)atG>atA	p.M2566I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2566	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTATTGGACTCATGGCTAATG	0.527																																																	0													100	97	98					16																	20994204		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7698G>A	16.37:g.20994204C>T	ENSP00000261383:p.Met2566Ile		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.M2566I	ENST00000261383.3	37	c.7698	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954138	0.92726	.	.	ENSG00000158486	ENST00000261383	T	0.39997	1.05	5.83	5.83	0.93111	Dynein heavy chain, P-loop containing D4 domain (1);	0.048426	0.85682	D	0.000000	T	0.69214	0.3086	M	0.92367	3.3	0.80722	D	1	D	0.63046	0.992	P	0.54544	0.755	T	0.77008	-0.2747	10	0.72032	D	0.01	.	20.1381	0.98040	0.0:1.0:0.0:0.0	.	2566	Q8TD57	DYH3_HUMAN	I	2566	ENSP00000261383:M2566I	ENSP00000261383:M2566I	M	-	3	0	DNAH3	20901705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.801000	0.55545	2.769000	0.95229	0.655000	0.94253	ATG	DNAH3	-	NULL		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		20994204	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20994204	C	T	20994204	3	4	182	1	0	0	0	0	1	0	0	0	4613	826	29	1	4707	1	DNAH3	16	20994204	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	11137077	20994204	69360549	139	34048										
PLEKHG4	25894	genome.wustl.edu	37	chr16	67313990	67313990	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gggatgagtccccagactctCagggccatgccaccgactgg	13	14	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr16:67313990C>G	ENST00000360461.5	+	1	2578	c.43C>G	c.(43-45)Cag>Gag	p.Q15E	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.Q15E|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.Q15E|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.Q15E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	15							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCCAGACTCTCAGGGCCATGC	0.617																																																	0													57	61	59					16																	67313990		2198	4300	6498	SO:0001583	missense	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.43C>G	16.37:g.67313990C>G	ENSP00000353646:p.Gln15Glu		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q15E	ENST00000360461.5	37	c.43	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693797	0.68386	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733;ENST00000393966	T;T;T;T	0.14766	2.72;2.72;2.72;2.48	4.22	3.21	0.36854	.	.	.	.	.	T	0.15176	0.0366	M	0.62723	1.935	0.09310	N	1	B;B	0.28636	0.218;0.139	B;B	0.24701	0.04;0.055	T	0.07868	-1.0750	9	0.49607	T	0.09	.	9.2813	0.37731	0.2133:0.7867:0.0:0.0	.	15;15	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	E	15	ENSP00000353646:Q15E;ENSP00000401118:Q15E;ENSP00000368649:Q15E;ENSP00000398030:Q15E	ENSP00000353646:Q15E	Q	+	1	0	PLEKHG4	65871491	0.041000	0.20044	0.212000	0.23672	0.989000	0.77384	3.121000	0.50438	2.183000	0.69458	0.655000	0.94253	CAG	PLEKHG4	-	NULL		0.617	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	C	NM_015432		67313990	1	no_errors	ENST00000360461	ensembl	human	known	70_37	missense	SNP	0.041	G	G	67313990	C	G	67313990	3	3	182	1	0	0	0	0	1	0	0	0	12095	827	29	1	45	1	PLEKHG4	16	67313990	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	46319786	67313990	23040763	140	34049										
WWOX	51741	genome.wustl.edu	37	chr16	78466571	78466571	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcagtgcatcctggaaatatGatgtactccaacattcatcg	8	10	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr16:78466571G>A	ENST00000566780.1	+	8	1344	c.978G>A	c.(976-978)atG>atA	p.M326I	WWOX_ENST00000408984.3_Missense_Mutation_p.M326I|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	326	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CTGGAAATATGATGTACTCCA	0.547																																																	0													175	178	177					16																	78466571		2092	4210	6302	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.978G>A	16.37:g.78466571G>A	ENSP00000457230:p.Met326Ile		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH	p.M326I	ENST00000566780.1	37	c.978	CCDS42196.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.238044|4.238044	0.79800|0.79800	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000299644|ENST00000408984	.|T	.|0.18016	.|2.24	5.93|5.93	5.93|5.93	0.95920|0.95920	.|NAD(P)-binding domain (1);	.|0.085772	.|0.85682	.|N	.|0.000000	T|T	0.19725|0.19725	0.0474|0.0474	N|N	0.12853|0.12853	0.265|0.265	0.80722|0.80722	D|D	1|1	.|D	.|0.55172	.|0.97	.|P	.|0.53102	.|0.718	T|T	0.04976|0.04976	-1.0914|-1.0914	6|10	0.19147|0.26408	T|T	0.46|0.33	.|.	20.3261|20.3261	0.98701|0.98701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|326	.|Q9NZC7	.|WWOX_HUMAN	N|I	168|326	.|ENSP00000386161:M326I	ENSP00000299644:D168N|ENSP00000386161:M326I	D|M	+|+	1|3	0|0	WWOX|WWOX	77024072|77024072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	9.476000|9.476000	0.97823|0.97823	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GAT|ATG	WWOX	-	prints_Glc/ribitol_DH		0.547	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	G			78466571	1	no_errors	ENST00000566780	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78466571	G	A	78466571	3	1	182	1	0	0	0	0	1	0	0	0	17445	1290	45	1	1070	1	WWOX	16	78466571	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	11152581	78466571	11888182	141	34050										
JPH3	57338	genome.wustl.edu	37	chr16	87724057	87724057	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctgcgttgggacttgaccttCtccccgccccagaaatcctt	8	16	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr16:87724057C>T	ENST00000284262.2	+	4	2333	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	697					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACTTGACCTTCTCCCCGCCCC	0.672																																																	0													15	13	14					16																	87724057		2179	4283	6462	SO:0001819	synonymous_variant	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.2091C>T	16.37:g.87724057C>T			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.F697	ENST00000284262.2	37	c.2091	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin		0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	C			87724057	1	no_errors	ENST00000284262	ensembl	human	known	70_37	silent	SNP	1.000	T	T	87724057	C	T	87724057	2	4	182	1	0	0	0	0	0	0	0	1	7982	912	32	1		1	JPH3	16	87724057	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	9257486	87724057	2630696	142	34051										
KLHDC4	54758	genome.wustl.edu	37	chr16	87764168	87764168	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tggtaccaaccgtgtactttCatggaagccaccaaacagga	9	11	1	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr16:87764168C>A	ENST00000270583.5	-	6	647	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	KLHDC4_ENST00000353170.5_Nonsense_Mutation_p.E140*|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	197										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CGTGTACTTTCATGGAAGCCA	0.433																																																	0													140	121	127					16																	87764168		2198	4300	6498	SO:0001587	stop_gained	54758			AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.589G>T	16.37:g.87764168C>A	ENSP00000270583:p.Glu197*		D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Nonsense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.E197*	ENST00000270583.5	37	c.589	CCDS10963.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.117246	0.97296	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000353170	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.8145	14.9275	0.70890	0.0:1.0:0.0:0.0	.	.	.	.	X	197;16;140	.	ENSP00000270583:E197X	E	-	1	0	KLHDC4	86321669	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.688000	0.61715	2.193000	0.70182	0.655000	0.94253	GAA	KLHDC4	-	pfam_Kelch_1		0.433	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLHDC4	HGNC	protein_coding	OTTHUMT00000269109.2	C	NM_017566		87764168	-1	no_errors	ENST00000270583	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	87764168	C	A	87764168	4	1	182	1	0	0	0	0	0	1	0	0	8378	835	29	3	997	3	KLHDC4	16	87764168	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	40111	87764168	2590585	143	34052										
RPAIN	84268	genome.wustl.edu	37	chr17	5329310	5329310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gagcagtccatcatcagcgaGtatgagaagagcttgcagtt	12	8	2	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:5329310G>T	ENST00000381209.3	+	4	903	c.333G>T	c.(331-333)gaG>gaT	p.E111D	RPAIN_ENST00000381208.5_Missense_Mutation_p.E111D|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Missense_Mutation_p.E111D|RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000405578.4_Missense_Mutation_p.E111D	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	111					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCATCAGCGAGTATGAGAAGA	0.473																																																	0													74	60	65					17																	5329310		2203	4300	6503	SO:0001583	missense	84268			AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.333G>T	17.37:g.5329310G>T	ENSP00000370606:p.Glu111Asp		B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	NULL	p.E111D	ENST00000381209.3	37	c.333	CCDS32536.1	17	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381037	0.61845	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000539417;ENST00000405578;ENST00000327154	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.41	-0.281	0.12882	.	0.095034	0.64402	D	0.000001	T	0.63212	0.2492	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.62637	-0.6812	10	0.56958	D	0.05	-5.4204	9.3418	0.38085	0.4575:0.0:0.5425:0.0	.	111;111;111;111	F5GYE1;E9PES3;E9PDG9;Q86UA6	.;.;.;RIP_HUMAN	D	111	ENSP00000370606:E111D;ENSP00000370605:E111D;ENSP00000446453:E111D;ENSP00000385814:E111D;ENSP00000315069:E111D	ENSP00000315069:E111D	E	+	3	2	RPAIN	5270034	0.992000	0.36948	0.889000	0.34880	0.747000	0.42532	0.080000	0.14802	0.077000	0.16863	-0.253000	0.11424	GAG	RPAIN	-	NULL		0.473	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAIN	HGNC	protein_coding	OTTHUMT00000439373.1	G	NM_001033002		5329310	1	no_errors	ENST00000405578	ensembl	human	known	70_37	missense	SNP	0.979	T	T	5329310	G	T	5329310	3	4	182	1	0	0	0	0	1	0	0	0	13570	1020	36	4	347	4	RPAIN	17	5329310	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		5329310	75865900	144	34053										
TMEM102	284114	genome.wustl.edu	37	chr17	7339258	7339258	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cccggccccagctcggccgcTcacggacatcgacttctgct	10	19	2	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:7339258T>A	ENST00000323206.1	+	2	341	c.68T>A	c.(67-69)cTc>cAc	p.L23H	TMEM102_ENST00000396568.1_Missense_Mutation_p.L23H|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.9_ENST00000570444.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	23					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GCTCGGCCGCTCACGGACATC	0.687																																																	0													26	36	33					17																	7339258		2174	4272	6446	SO:0001583	missense	284114			AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.68T>A	17.37:g.7339258T>A	ENSP00000315387:p.Leu23His		D3DTP8	Missense_Mutation	SNP	NULL	p.L23H	ENST00000323206.1	37	c.68	CCDS11104.1	17	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570001	0.86542	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.52526	0.66;0.66	5.53	5.53	0.82687	.	0.000000	0.47093	D	0.000252	T	0.66218	0.2767	M	0.65975	2.015	0.45822	D	0.998692	D	0.89917	1.0	D	0.80764	0.994	T	0.69781	-0.5052	10	0.87932	D	0	-3.2723	13.6199	0.62130	0.0:0.0:0.0:1.0	.	23	Q8N9M5	TM102_HUMAN	H	23	ENSP00000315387:L23H;ENSP00000379815:L23H	ENSP00000315387:L23H	L	+	2	0	TMEM102	7279982	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.852000	0.55934	2.108000	0.64289	0.533000	0.62120	CTC	TMEM102	-	NULL		0.687	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM102	HGNC	protein_coding	OTTHUMT00000256405.1	T	NM_178518		7339258	1	no_errors	ENST00000323206	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7339258	T	A	7339258	3	1	182	1	0	0	0	0	1	0	0	0	16047	1551	54	5	70	5	TMEM102	17	7339258	Missense_Mutation	SNP	T	TCGA-Q1-A6DT-01A-11D-A32I-09	2009948	7339258	73855952	145	34054										
SCO1	6341	genome.wustl.edu	37	chr17	10600725	10600725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	caagactctcgcagtcccctCggctgggccccaaaactcga	9	17	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:10600725C>T	ENST00000255390.5	-	1	160	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SCO1_ENST00000582053.1_Intron|ADPRM_ENST00000379774.4_5'Flank|SCO1_ENST00000577427.1_Missense_Mutation_p.E34K	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	34					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						GCAGTCCCCTCGGCTGGGCCC	0.672																																					Melanoma(128;591 1731 19711 31891 44645)												0													12	13	12					17																	10600725		2197	4286	6483	SO:0001583	missense	6341			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.100G>A	17.37:g.10600725C>T	ENSP00000255390:p.Glu34Lys		B2RDM0	Missense_Mutation	SNP	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.E34K	ENST00000255390.5	37	c.100	CCDS11158.1	17	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393707	0.42410	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.84800	-1.9	4.12	-0.292	0.12839	.	1.927050	0.01846	N	0.035634	T	0.70622	0.3245	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.60037	-0.7341	10	0.07813	T	0.8	-2.4052	7.627	0.28218	0.0:0.4066:0.4973:0.0962	.	34;34	A8MY34;O75880	.;SCO1_HUMAN	K	34	ENSP00000255390:E34K	ENSP00000255390:E34K	E	-	1	0	SCO1	10541450	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.634000	0.05477	0.012000	0.14892	-0.165000	0.13383	GAG	SCO1	-	pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.672	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO1	HGNC	protein_coding	OTTHUMT00000252729.2	C	NM_004589		10600725	-1	no_errors	ENST00000255390	ensembl	human	known	70_37	missense	SNP	0.000	T	T	10600725	C	T	10600725	3	4	182	1	0	0	0	0	1	0	0	0	13961	893	31	1	829	1	SCO1	17	10600725	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	3261467	10600725	70594485	146	34055										
MYO15A	51168	genome.wustl.edu	37	chr17	18022172	18022172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aagggaagaaggggaagaagGcaccggagccggagaagccc	18	8	0	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:18022172G>T	ENST00000205890.5	+	2	396	c.58G>T	c.(58-60)Gca>Tca	p.A20S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	20					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ggggaagaaggcaccggagcc	0.612																																																	0													55	76	69					17																	18022172		1989	4148	6137	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.58G>T	17.37:g.18022172G>T	ENSP00000205890:p.Ala20Ser		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A20S	ENST00000205890.5	37	c.58	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164184	0.38217	.	.	ENSG00000091536	ENST00000205890	D	0.89552	-2.53	5.37	4.37	0.52481	.	.	.	.	.	T	0.79009	0.4374	L	0.27053	0.805	0.50632	D	0.99988	P	0.44734	0.842	B	0.33521	0.165	T	0.81250	-0.1018	9	0.59425	D	0.04	.	10.5718	0.45204	0.0751:0.1348:0.7902:0.0	.	20	Q9UKN7	MYO15_HUMAN	S	20	ENSP00000205890:A20S	ENSP00000205890:A20S	A	+	1	0	MYO15A	17962897	1.000000	0.71417	0.985000	0.45067	0.524000	0.34500	3.636000	0.54317	2.524000	0.85096	0.561000	0.74099	GCA	MYO15A	-	NULL		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18022172	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.683	T	T	18022172	G	T	18022172	3	4	182	1	0	0	0	0	1	0	0	0	10086	1203	42	4	60	4	MYO15A	17	18022172	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	7421447	18022172	63173038	147	34056										
GGNBP2	79893	genome.wustl.edu	37	chr17	34935768	34935768	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tatgaaagactgcatcgaatCtggcagaagctacgggcaga	12	8	1	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:34935768C>G	ENST00000304718.4	+	8	1255	c.939C>G	c.(937-939)atC>atG	p.I313M		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	313					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGCATCGAATCTGGCAGAAGC	0.428																																																	0													185	186	186					17																	34935768		2203	4300	6503	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.939C>G	17.37:g.34935768C>G	ENSP00000307617:p.Ile313Met		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.I313M	ENST00000304718.4	37	c.939	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118686	0.77323	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.55	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	L	0.50333	1.59	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;P	0.65010	0.931;0.931;0.906	T	0.70799	-0.4774	9	0.87932	D	0	-8.7751	13.8193	0.63311	0.0:0.9267:0.0:0.0733	.	313;313;313	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	M	313	.	ENSP00000307617:I313M	I	+	3	3	GGNBP2	32009881	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.785000	0.47782	2.615000	0.88500	0.460000	0.39030	ATC	GGNBP2	-	NULL		0.428	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	C	NM_024835		34935768	1	no_errors	ENST00000304718	ensembl	human	known	70_37	missense	SNP	1.000	G	G	34935768	C	G	34935768	3	3	182	1	0	0	0	0	1	0	0	0	6378	903	32	1	965	1	GGNBP2	17	34935768	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	16913596	34935768	46259442	148	34057										
STAT5A	6776	genome.wustl.edu	37	chr17	40441935	40441935	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agagcccaagccacccagctCctggagggcctggtgcagga	14	14	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:40441935C>G	ENST00000345506.4	+	4	822	c.180C>G	c.(178-180)ctC>ctG	p.L60L	STAT5A_ENST00000452307.2_Silent_p.L60L|STAT5A_ENST00000546010.2_Silent_p.L60L|STAT5A_ENST00000588868.1_Silent_p.L60L|STAT5A_ENST00000590949.1_Silent_p.L60L	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	60					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCACCCAGCTCCTGGAGGGCC	0.597																																																	0													38	34	35					17																	40441935		2203	4300	6503	SO:0001819	synonymous_variant	6776			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.180C>G	17.37:g.40441935C>G			Q1KLZ6	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L60	ENST00000345506.4	37	c.180	CCDS11424.1	17																																																																																			STAT5A	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction		0.597	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	C	NM_003152		40441935	1	no_errors	ENST00000345506	ensembl	human	known	70_37	silent	SNP	1.000	G	G	40441935	C	G	40441935	2	3	182	1	0	0	0	0	0	0	0	1	15298	842	30	1		1	STAT5A	17	40441935	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	5506167	40441935	40753275	149	34058										
IGF2BP1	10642	genome.wustl.edu	37	chr17	47123357	47123357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgccagcatcagcagctggcCgggtcattggcaaaggtgga	15	10	2	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:47123357C>T	ENST00000290341.3	+	13	1835	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R362W	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	501	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGCAGCTGGCCGGGTCATTGG	0.547																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													54	52	53					17																	47123357		2203	4300	6503	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1501C>T	17.37:g.47123357C>T	ENSP00000290341:p.Arg501Trp		C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.R501W	ENST00000290341.3	37	c.1501	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212537	0.79240	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.35048	1.33;1.33	5.5	2.19	0.27852	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.106432	0.64402	D	0.000007	T	0.64011	0.2560	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.73033	-0.4110	10	0.72032	D	0.01	-28.999	14.0421	0.64681	0.4867:0.5133:0.0:0.0	.	362;501	C9JT33;Q9NZI8	.;IF2B1_HUMAN	W	501;362	ENSP00000290341:R501W;ENSP00000389135:R362W	ENSP00000290341:R501W	R	+	1	2	IGF2BP1	44478356	0.968000	0.33430	1.000000	0.80357	0.997000	0.91878	0.287000	0.18920	0.838000	0.34948	0.655000	0.94253	CGG	IGF2BP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.547	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	C	NM_006546		47123357	1	no_errors	ENST00000290341	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47123357	C	T	47123357	3	4	182	1	0	0	0	0	1	0	0	0	7593	643	23	2	1551	2	IGF2BP1	17	47123357	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	6681422	47123357	34071853	150	34059										
TRIM37	4591	genome.wustl.edu	37	chr17	57134235	57134235	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	acatcaaatttttcctgttaCcttaaaatcactgtatcatt	2	9	3	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:57134235C>T	ENST00000262294.7	-	13	1459		c.e13+1		TRIM37_ENST00000376149.3_Splice_Site|TRIM37_ENST00000393065.2_Splice_Site|TRIM37_ENST00000393066.3_Splice_Site|RN7SL716P_ENST00000580539.1_RNA	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCCTGTTACCTTAAAATCA	0.313									Mulibrey Nanism																																								0													130	122	124					17																	57134235		2201	4300	6501	SO:0001630	splice_region_variant	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1199+1G>A	17.37:g.57134235C>T			Q7Z3E6|Q8IYF7|Q8WYF7	Splice_Site	SNP	-	e13+1	ENST00000262294.7	37	c.1199+1	CCDS32694.1	17	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882759	0.72410	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	.	.	.	5.56	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5037	0.67739	0.0:0.9293:0.0:0.0707	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM37	54489017	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.814000	0.86154	1.334000	0.45468	0.591000	0.81541	.	TRIM37	-	-		0.313	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	C	NM_015294	Intron	57134235	-1	no_errors	ENST00000262294	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	57134235	C	T	57134235	5	4	182	1	0	0	0	0	0	0	1	0	16542	521	18	4	1750	4	TRIM37	17	57134235	Splice_Site	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	10010878	57134235	24060975	151	34060										
FBF1	85302	genome.wustl.edu	37	chr17	73910890	73910890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctgcaatgcccgctcggcctCgcgctcggcccgctccttac	10	20	0	0	rs577460839	byFrequency	TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:73910890C>T	ENST00000586717.1	-	24	2983	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	FBF1_ENST00000319129.5_Missense_Mutation_p.E903K|FBF1_ENST00000389570.4_Missense_Mutation_p.E904K|RP11-552F3.12_ENST00000587556.1_5'Flank			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	904					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CGCTCGGCCTCGCGCTCGGCC	0.701																																																	0													13	18	16					17																	73910890		2078	4185	6263	SO:0001583	missense	85302			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2710G>A	17.37:g.73910890C>T	ENSP00000465132:p.Glu904Lys		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	superfamily_HRDC-like	p.E904K	ENST00000586717.1	37	c.2710		17	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241810	0.58995	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.20881	2.04;2.04	5.58	3.55	0.40652	.	.	.	.	.	T	0.42314	0.1197	L	0.56769	1.78	0.41833	D	0.990085	D;D	0.89917	0.972;1.0	P;D	0.85130	0.552;0.997	T	0.24048	-1.0171	9	0.42905	T	0.14	-8.0856	15.7176	0.77681	0.0:0.7212:0.2788:0.0	.	918;903	Q8TES7-6;A6NLR5	.;.	K	904;903;917	ENSP00000374221:E904K;ENSP00000324292:E903K	ENSP00000324292:E903K	E	-	1	0	FBF1	71422485	0.994000	0.37717	0.004000	0.12327	0.017000	0.09413	3.438000	0.52871	0.681000	0.31386	-0.219000	0.12488	GAG	FBF1	-	NULL		0.701	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	C	NM_001080542		73910890	-1	no_errors	ENST00000389570	ensembl	human	known	70_37	missense	SNP	0.922	T	T	73910890	C	T	73910890	3	4	182	1	0	0	0	0	1	0	0	0	5713	893	31	1	718	1	FBF1	17	73910890	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	16776655	73910890	7284320	152	34061										
SLC16A3	9123	genome.wustl.edu	37	chr17	80195168	80195168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cagctgctgcaggaccgctaCggctggcggggcggcttcct	16	14	0	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:80195168C>T	ENST00000581287.1	+	3	2844	c.522C>T	c.(520-522)taC>taT	p.Y174Y	SLC16A3_ENST00000582743.1_Silent_p.Y174Y|SLC16A3_ENST00000392339.1_Silent_p.Y174Y|SLC16A3_ENST00000392341.1_Silent_p.Y174Y	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	174					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	AGGACCGCTACGGCTGGCGGG	0.711																																					Pancreas(52;652 1135 19190 37282 52456)												0													6	6	6					17																	80195168		2121	4174	6295	SO:0001819	synonymous_variant	9123			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.522C>T	17.37:g.80195168C>T			B3KXG8|Q2M1P8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.Y174	ENST00000581287.1	37	c.522	CCDS11804.1	17																																																																																			SLC16A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.711	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A3	HGNC	protein_coding	OTTHUMT00000443498.1	C	NM_004207		80195168	1	no_errors	ENST00000392339	ensembl	human	known	70_37	silent	SNP	0.214	T	T	80195168	C	T	80195168	2	4	182	1	0	0	0	0	0	0	0	1	14439	547	19	2		2	SLC16A3	17	80195168	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	6284278	80195168	1000042	153	34062										
SLC16A3	9123	genome.wustl.edu	37	chr17	80195570	80195570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	atgttcttcaacggcctcgcGgacctggcgggttctacggc	13	13	3	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr17:80195570G>A	ENST00000581287.1	+	3	3246	c.924G>A	c.(922-924)gcG>gcA	p.A308A	SLC16A3_ENST00000582743.1_Silent_p.A308A|SLC16A3_ENST00000392339.1_Silent_p.A308A|SLC16A3_ENST00000392341.1_Silent_p.A308A	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	308					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	ACGGCCTCGCGGACCTGGCGG	0.662																																					Pancreas(52;652 1135 19190 37282 52456)												0													54	56	55					17																	80195570		2202	4299	6501	SO:0001819	synonymous_variant	9123			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.924G>A	17.37:g.80195570G>A			B3KXG8|Q2M1P8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.A308	ENST00000581287.1	37	c.924	CCDS11804.1	17																																																																																			SLC16A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.662	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A3	HGNC	protein_coding	OTTHUMT00000443498.1	G	NM_004207		80195570	1	no_errors	ENST00000392339	ensembl	human	known	70_37	silent	SNP	0.051	A	A	80195570	G	A	80195570	2	1	182	1	0	0	0	0	0	0	0	1	14439	1103	39	2		2	SLC16A3	17	80195570	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	402	80195570	999640	154	34063										
PTPRM	5797	genome.wustl.edu	37	chr18	8143731	8143731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gagtcatcgcgggcatcttgCtgttcgtgattatatttctt	10	8	3	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr18:8143731C>T	ENST00000332175.8	+	14	3291	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	PTPRM_ENST00000400060.4_Silent_p.L752L|PTPRM_ENST00000580170.1_Silent_p.L752L|PTPRM_ENST00000400053.4_Silent_p.L690L|PTPRM_ENST00000444013.1_Silent_p.L539L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	752					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGCATCTTGCTGTTCGTGAT	0.448																																																	0													191	182	185					18																	8143731		2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2254C>T	18.37:g.8143731C>T			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L752	ENST00000332175.8	37	c.2254	CCDS11840.1	18																																																																																			PTPRM	-	NULL		0.448	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	C			8143731	1	no_errors	ENST00000400060	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8143731	C	T	8143731	2	4	182	1	0	0	0	0	0	0	0	1	12836	796	28	4		4	PTPRM	18	8143731	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		8143731	69933517	155	34064										
RTBDN	83546	genome.wustl.edu	37	chr19	12936680	12936680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgttgaagcagtgacgggctCcaggagcagccaccggtagg	16	10	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:12936680C>T	ENST00000458671.2	-	6	682	c.530G>A	c.(529-531)gGa>gAa	p.G177E	RTBDN_ENST00000592204.1_Missense_Mutation_p.G187E|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Missense_Mutation_p.G209E|RTBDN_ENST00000393233.2_3'UTR|RTBDN_ENST00000589272.1_3'UTR	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	177						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GTGACGGGCTCCAGGAGCAGC	0.662											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29	26	27					19																	12936680		2202	4299	6501	SO:0001583	missense	83546			AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.530G>A	19.37:g.12936680C>T	ENSP00000416375:p.Gly177Glu	683	F1T0I8|Q9BWT5	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.G209E	ENST00000458671.2	37	c.626	CCDS45994.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350845	0.82132	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.75821	-0.97;-0.97	4.53	3.41	0.39046	Folate receptor-like (1);	0.000000	0.44285	D	0.000477	D	0.82332	0.5014	M	0.68317	2.08	0.35190	D	0.773254	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.86208	0.1623	10	0.72032	D	0.01	-38.5844	9.9357	0.41550	0.0:0.7927:0.2073:0.0	.	209;177	Q9BSG5-2;Q9BSG5	.;RTBDN_HUMAN	E	209;177	ENSP00000326253:G209E;ENSP00000416375:G177E	ENSP00000326253:G209E	G	-	2	0	RTBDN	12797680	0.201000	0.23410	0.126000	0.21872	0.453000	0.32348	1.172000	0.31908	2.513000	0.84729	0.591000	0.81541	GGA	RTBDN	-	pfam_Folate_rcpt-like		0.662	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RTBDN	HGNC	protein_coding	OTTHUMT00000451513.1	C	NM_031429		12936680	-1	no_errors	ENST00000322912	ensembl	human	known	70_37	missense	SNP	0.071	T	T	12936680	C	T	12936680	3	4	182	1	0	0	0	0	1	0	0	0	13747	855	30	1	163	1	RTBDN	19	12936680	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		12936680	46192303	156	34065										
DDX49	54555	genome.wustl.edu	37	chr19	19035769	19035769	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aagatctacatccaccgagtCggccggacggcccgtgcagg	13	14	1	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:19035769C>T	ENST00000247003.4	+	9	1075	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	DDX49_ENST00000438170.2_Missense_Mutation_p.S239L|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000599156.1_3'UTR	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	336	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			TCCACCGAGTCGGCCGGACGG	0.657																																																	0													49	45	47					19																	19035769		2203	4300	6503	SO:0001819	synonymous_variant	54555				CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"DEAD-boxes"	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.1008C>T	19.37:g.19035769C>T			E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S239L	ENST00000247003.4	37	c.716	CCDS12390.1	19	.	.	.	.	.	.	.	.	.	.	C	0.177	-1.065868	0.01934	.	.	ENSG00000105671	ENST00000438170	T	0.08458	3.09	4.77	-9.54	0.00572	.	.	.	.	.	T	0.07818	0.0196	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.28776	-1.0033	6	0.87932	D	0	-27.9248	6.3086	0.21153	0.0656:0.1623:0.2719:0.5002	.	.	.	.	L	239	ENSP00000395377:S239L	ENSP00000395377:S239L	S	+	2	0	DDX49	18896769	0.000000	0.05858	0.020000	0.16555	0.027000	0.11550	-3.581000	0.00424	-3.558000	0.00141	-2.069000	0.00389	TCG	DDX49	-	smart_Helicase_C,pfscan_Helicase_C		0.657	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX49	HGNC	protein_coding	OTTHUMT00000464593.1	C	NM_019070		19035769	1	no_errors	ENST00000438170	ensembl	human	known	70_37	missense	SNP	0.002	T	T	19035769	C	T	19035769	2	4	182	1	0	0	0	0	0	0	0	1	4371	871	31	1		1	DDX49	19	19035769	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	6099089	19035769	40093214	157	34066										
TSSK6	51079	genome.wustl.edu	37	chr19	19625906	19625906	+	5'Flank	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cgcaaagaggtcgcgcgcctGaactccggggatgcgcccgt	15	14	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:19625906G>C	ENST00000507754.4	+	0	0				CTC-260F20.3_ENST00000555938.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.Q111E|TSSK6_ENST00000360913.3_Missense_Mutation_p.Q111E|NDUFA13_ENST00000503283.1_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TCGCGCGCCTGAACTCCGGGG	0.642																																																	0													37	39	38					19																	19625906		2203	4299	6502	SO:0001631	upstream_gene_variant	83983			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625906G>C	Exception_encountered		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q111E	ENST00000507754.4	37	c.331	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.630151	0.00813	.	.	ENSG00000178093	ENST00000360913	T	0.62941	-0.01	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.186126	0.25833	U	0.028007	T	0.31167	0.0788	N	0.01535	-0.81	0.27086	N	0.962963	B	0.02656	0.0	B	0.09377	0.004	T	0.05022	-1.0911	10	0.02654	T	1	.	15.4918	0.75611	0.0:0.0:1.0:0.0	.	111	Q9BXA6	TSSK6_HUMAN	E	111	ENSP00000354168:Q111E	ENSP00000354168:Q111E	Q	-	1	0	TSSK6	19486906	0.998000	0.40836	0.920000	0.36463	0.010000	0.07245	4.089000	0.57685	2.252000	0.74401	0.306000	0.20318	CAG	TSSK6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.642	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TSSK6	HGNC	protein_coding	OTTHUMT00000367916.6	G	NM_015965		19625906	-1	no_errors	ENST00000360913	ensembl	human	known	70_37	missense	SNP	0.863	C	C	19625906	G	C	19625906	1	2	182	0	1	0	0	0	0	0	0	0	16703	1299	45	1		1	TSSK6	19	19625906	5'Flank	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	590137	19625906	39503077	158	34067										
LTBP4	8425	genome.wustl.edu	37	chr19	41112348	41112348	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctggcgggcgctgccagcacGgcgagtgtgcaaacacgcgc	16	14	0	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:41112348G>C	ENST00000308370.7	+	9	1108	c.1108G>C	c.(1108-1110)Ggc>Cgc	p.G370R	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.G333R|LTBP4_ENST00000396819.3_Missense_Mutation_p.G303R|RN7SL758P_ENST00000580450.1_RNA	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	370	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCCAGCACGGCGAGTGTGC	0.652																																																	0													7	10	9					19																	41112348		2080	4177	6257	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.1108G>C	19.37:g.41112348G>C	ENSP00000311905:p.Gly370Arg		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G370R	ENST00000308370.7	37	c.1108		19	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849237	0.91277	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;D;D	0.96073	-3.9;-3.9;-3.9	3.95	3.95	0.45737	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.36893	U	0.002355	D	0.97365	0.9138	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98083	1.0405	10	0.87932	D	0	.	14.9058	0.70718	0.0:0.0:1.0:0.0	.	303;370;333	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	R	333;370;303	ENSP00000204005:G333R;ENSP00000311905:G370R;ENSP00000380031:G303R	ENSP00000204005:G333R	G	+	1	0	LTBP4	45804188	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.956000	0.76013	2.037000	0.60232	0.305000	0.20034	GGC	LTBP4	-	pfam_EGF-like_Ca-bd,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.652	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41112348	1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41112348	G	C	41112348	3	2	182	1	0	0	0	0	1	0	0	0	9099	1116	39	2	1435	2	LTBP4	19	41112348	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	21486442	41112348	18016635	159	34068										
ZNF526	116115	genome.wustl.edu	37	chr19	42729234	42729234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttgactccctagagaaagagGagcgcaatgggttggaggag	16	6	0	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:42729234G>A	ENST00000301215.3	+	3	904	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	227	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				AGAGAAAGAGGAGCGCAATGG	0.557																																																	0													102	77	85					19																	42729234		2203	4300	6503	SO:0001583	missense	116115			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.679G>A	19.37:g.42729234G>A	ENSP00000301215:p.Glu227Lys		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E227K	ENST00000301215.3	37	c.679	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620020	0.46736	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.09630	2.96	4.52	4.52	0.55395	.	0.174690	0.44285	D	0.000470	T	0.20740	0.0499	L	0.44542	1.39	0.43187	D	0.995011	D	0.76494	0.999	D	0.69654	0.965	T	0.02132	-1.1208	10	0.06494	T	0.89	-11.1656	16.5388	0.84380	0.0:0.0:1.0:0.0	.	227	Q8TF50	ZN526_HUMAN	K	83;227	ENSP00000301215:E227K	ENSP00000301215:E227K	E	+	1	0	ZNF526	47421074	0.996000	0.38824	0.782000	0.31804	0.432000	0.31715	4.781000	0.62389	2.514000	0.84764	0.563000	0.77884	GAG	ZNF526	-	NULL		0.557	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	G	XM_057401		42729234	1	no_errors	ENST00000301215	ensembl	human	known	70_37	missense	SNP	0.998	A	A	42729234	G	A	42729234	3	1	182	1	0	0	0	0	1	0	0	0	17997	1175	41	1	681	1	ZNF526	19	42729234	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	1616886	42729234	16399749	160	34069										
ZNF526	116115	genome.wustl.edu	37	chr19	42729255	42729255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agcgcaatgggttggaggagGaggaagaggacgatgaggag	21	3	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:42729255G>A	ENST00000301215.3	+	3	925	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	234	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GTTggaggaggaggaagagga	0.562																																																	0													115	70	85					19																	42729255		2203	4300	6503	SO:0001583	missense	116115			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.700G>A	19.37:g.42729255G>A	ENSP00000301215:p.Glu234Lys		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E234K	ENST00000301215.3	37	c.700	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233466	0.22626	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.09538	2.97	4.38	3.34	0.38264	.	0.423244	0.25058	N	0.033476	T	0.08537	0.0212	L	0.43152	1.355	0.29120	N	0.880294	B	0.06786	0.001	B	0.06405	0.002	T	0.30707	-0.9969	10	0.06757	T	0.87	-11.4393	11.4435	0.50110	0.0913:0.0:0.9087:0.0	.	234	Q8TF50	ZN526_HUMAN	K	90;234	ENSP00000301215:E234K	ENSP00000301215:E234K	E	+	1	0	ZNF526	47421095	0.998000	0.40836	1.000000	0.80357	0.622000	0.37654	2.824000	0.48088	1.182000	0.42928	0.563000	0.77884	GAG	ZNF526	-	NULL		0.562	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	G	XM_057401		42729255	1	no_errors	ENST00000301215	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42729255	G	A	42729255	3	1	182	1	0	0	0	0	1	0	0	0	17997	1175	41	1	702	1	ZNF526	19	42729255	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	21	42729255	16399728	161	34070										
CIC	23152	genome.wustl.edu	37	chr19	42796784	42796784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tgtgcccagtccccagctgcCgcctgcctgtgcagcccccg	11	20	0	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:42796784C>T	ENST00000575354.2	+	14	3282	c.3242C>T	c.(3241-3243)cCg>cTg	p.P1081L	CIC_ENST00000572681.2_Missense_Mutation_p.P1989L|CIC_ENST00000160740.3_Missense_Mutation_p.P1080L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1081	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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)				CCCCAGCTGCCGCCTGCCTGT	0.647			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													40	47	45					19																	42796784		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3242C>T	19.37:g.42796784C>T	ENSP00000458663:p.Pro1081Leu		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P1081L	ENST00000575354.2	37	c.3242	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718496	0.48622	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	T	0.33030	0.0849	N	0.08118	0	0.48901	D	0.999723	D	0.60575	0.988	P	0.45449	0.481	T	0.35943	-0.9768	8	0.87932	D	0	-9.7746	13.7669	0.63002	0.0:1.0:0.0:0.0	.	1081	Q96RK0	CIC_HUMAN	L	1081	.	ENSP00000160740:P1081L	P	+	2	0	CIC	47488624	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	4.996000	0.63914	2.639000	0.89480	0.491000	0.48974	CCG	CIC	-	NULL		0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	C			42796784	1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42796784	C	T	42796784	3	4	182	1	0	0	0	0	1	0	0	0	3429	652	23	2	3296	2	CIC	19	42796784	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	67529	42796784	16332199	162	34071										
CEACAM1	634	genome.wustl.edu	37	chr19	43031407	43031407	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cggttgccatccactctttcCcctttgtaccagctgtagcc	7	16	1	0	rs79326931	byFrequency	TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:43031407C>G	ENST00000161559.6	-	2	344	c.210G>C	c.(208-210)ggG>ggC	p.G70G	CEACAM1_ENST00000358394.3_Silent_p.G70G|CEACAM1_ENST00000308072.4_Silent_p.G30G|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Silent_p.G70G|CEACAM1_ENST00000352591.5_Silent_p.G70G|CEACAM1_ENST00000599389.1_Silent_p.G70G|CEACAM1_ENST00000403444.3_Silent_p.G70G|CEACAM1_ENST00000403461.1_Silent_p.G70G|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	70	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCACTCTTTCCCCTTTGTACC	0.498																																																	0													235	189	205					19																	43031407		2203	4300	6503	SO:0001819	synonymous_variant	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.210G>C	19.37:g.43031407C>G			A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G70	ENST00000161559.6	37	c.210	CCDS12609.1	19																																																																																			CEACAM1	-	pfam_Ig_V-set,smart_Ig_sub		0.498	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	HGNC	protein_coding	OTTHUMT00000321190.2	C	NM_001712		43031407	-1	no_errors	ENST00000161559	ensembl	human	known	70_37	silent	SNP	0.004	G	G	43031407	C	G	43031407	2	3	182	1	0	0	0	0	0	0	0	1	3192	610	22	4		4	CEACAM1	19	43031407	Silent	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	234623	43031407	16097576	163	34072										
CADM4	199731	genome.wustl.edu	37	chr19	44131041	44131041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gccctctaccgcctgctcccGgacctccaccacaggattct	7	20	2	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:44131041G>A	ENST00000222374.2	-	4	442	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	132	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCCTGCTCCCGGACCTCCACC	0.662																																																	0													27	30	29					19																	44131041		2202	4300	6502	SO:0001583	missense	199731			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.394C>T	19.37:g.44131041G>A	ENSP00000222374:p.Arg132Trp		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.R132W	ENST00000222374.2	37	c.394	CCDS12627.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058646	0.76074	.	.	ENSG00000105767	ENST00000222374	T	0.76060	-0.99	5.62	3.39	0.38822	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.209202	0.38548	N	0.001645	T	0.59985	0.2234	L	0.34521	1.04	0.35601	D	0.807888	B	0.14012	0.009	B	0.10450	0.005	T	0.63391	-0.6648	10	0.59425	D	0.04	.	6.2267	0.20711	0.0876:0.0:0.6225:0.2899	.	132	Q8NFZ8	CADM4_HUMAN	W	132	ENSP00000222374:R132W	ENSP00000222374:R132W	R	-	1	2	CADM4	48822881	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.207000	0.58480	1.383000	0.46405	-0.218000	0.12543	CGG	CADM4	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.662	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	HGNC	protein_coding	OTTHUMT00000463352.1	G	NM_145296		44131041	-1	no_errors	ENST00000222374	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44131041	G	A	44131041	3	1	182	1	0	0	0	0	1	0	0	0	2574	1115	39	2	796	2	CADM4	19	44131041	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	1099634	44131041	14997942	164	34073										
ZNF225	7768	genome.wustl.edu	37	chr19	44635874	44635874	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cagatagaccacacaggggaGaagccatataattgtaaaga	10	7	0	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:44635874G>A	ENST00000262894.6	+	5	1387	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.E369E	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				ACACAGGGGAGAAGCCATATA	0.433																																																	0													71	78	76					19																	44635874		2176	4284	6460	SO:0001819	synonymous_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1107G>A	19.37:g.44635874G>A			A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E369	ENST00000262894.6	37	c.1107	CCDS46100.1	19																																																																																			ZNF225	-	pfscan_Znf_C2H2		0.433	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	HGNC	protein_coding	OTTHUMT00000460581.1	G			44635874	1	no_errors	ENST00000262894	ensembl	human	known	70_37	silent	SNP	0.977	A	A	44635874	G	A	44635874	2	1	182	1	0	0	0	0	0	0	0	1	17809	933	33	1		1	ZNF225	19	44635874	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	504833	44635874	14493109	165	34074										
ZNF665	79788	genome.wustl.edu	37	chr19	53669311	53669311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tcagggagatgtgactgaaaGcttactccaagctgattttc	10	8	1	4			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr19:53669311G>A	ENST00000600412.1	-	2	352	c.237C>T	c.(235-237)agC>agT	p.S79S	ZNF665_ENST00000396424.3_Silent_p.S144S|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GTGACTGAAAGCTTACTCCAA	0.388																																																	0													118	125	123					19																	53669311		2152	4277	6429	SO:0001819	synonymous_variant	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.237C>T	19.37:g.53669311G>A			A8K5T8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S144	ENST00000600412.1	37	c.432		19																																																																																			ZNF665	-	NULL		0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	HGNC	protein_coding	OTTHUMT00000464179.1	G	NM_024733		53669311	-1	no_errors	ENST00000396424	ensembl	human	known	70_37	silent	SNP	0.000	A	A	53669311	G	A	53669311	2	1	182	1	0	0	0	0	0	0	0	1	18103	962	34	4		4	ZNF665	19	53669311	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	9033437	53669311	5459672	166	34075										
CPXM1	56265	genome.wustl.edu	37	chr20	2777278	2777278	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ggtgatgttggggcattgctCttgtacctgcttcatcagct	12	9	3	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr20:2777278C>A	ENST00000380605.2	-	8	1004	c.940G>T	c.(940-942)Gag>Tag	p.E314*		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	314					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGGCATTGCTCTTGTACCTGC	0.547																																																	0													173	157	163					20																	2777278		2203	4300	6503	SO:0001587	stop_gained	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.940G>T	20.37:g.2777278C>A	ENSP00000369979:p.Glu314*		Q6P4G8|Q6UW65|Q9NUB5	Nonsense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.E314*	ENST00000380605.2	37	c.940	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010223	0.93346	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	.	.	.	5.43	5.43	0.79202	.	0.097074	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-27.0231	16.7686	0.85531	0.0:1.0:0.0:0.0	.	.	.	.	X	314;10	.	ENSP00000369979:E314X	E	-	1	0	CPXM1	2725278	0.978000	0.34361	0.975000	0.42487	0.521000	0.34408	2.537000	0.45702	2.825000	0.97269	0.655000	0.94253	GAG	CPXM1	-	pfam_Peptidase_M14		0.547	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	C	NM_019609		2777278	-1	no_errors	ENST00000380605	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	2777278	C	A	2777278	4	1	182	1	0	0	0	0	0	1	0	0	3842	922	32	3	1292	3	CPXM1	20	2777278	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		2777278	60248242	167	34076										
ProSAPiP1	9762	genome.wustl.edu	37	chr20	3146539	3146539	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gagggcggtgagcaggccgcGaaaggcaggcctccacctcc	16	14	0	1	rs577156264		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr20:3146539G>A	ENST00000329152.3	-	2	2324	c.927C>T	c.(925-927)ttC>ttT	p.F309F	LZTS3_ENST00000360342.3_Silent_p.F309F|LZTS3_ENST00000337576.5_Silent_p.F309F			O60299	LZTS3_HUMAN		309						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											AGCAGGCCGCGAAAGGCAGGC	0.697																																																	0													14	15	15					20																	3146539		2151	4218	6369	SO:0001819	synonymous_variant	9762																														ENST00000329152.3:c.927C>T	20.37:g.3146539G>A			A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	pfam_Fez1	p.F309	ENST00000329152.3	37	c.927	CCDS13049.1	20																																																																																			PROSAPIP1	-	NULL		0.697	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSAPIP1	Uniprot_genename	protein_coding	OTTHUMT00000077715.2	G			3146539	-1	no_errors	ENST00000329152	ensembl	human	known	70_37	silent	SNP	0.994	A	A	3146539	G	A	3146539	2	1	182	1	0	0	0	0	0	0	0	1	12900	1049	37	1		1	ProSAPiP1	20	3146539	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	369261	3146539	59878981	168	34077										
PROCR	10544	genome.wustl.edu	37	chr20	33764083	33764083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	tcctttgtgagtttccggccGgagagagccttgtggcaggc	15	10	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr20:33764083G>A	ENST00000216968.4	+	3	517	c.435G>A	c.(433-435)ccG>ccA	p.P145P	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	145					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GTTTCCGGCCGGAGAGAGCCT	0.602																																																	0													79	73	75					20																	33764083		2203	4300	6503	SO:0001819	synonymous_variant	10544			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.435G>A	20.37:g.33764083G>A			B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Silent	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.P145	ENST00000216968.4	37	c.435	CCDS13248.1	20																																																																																			PROCR	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.602	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	G			33764083	1	no_errors	ENST00000216968	ensembl	human	known	70_37	silent	SNP	0.020	A	A	33764083	G	A	33764083	2	1	182	1	0	0	0	0	0	0	0	1	12574	1103	39	2		2	PROCR	20	33764083	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	30617544	33764083	29261437	169	34078										
SYCP2	10388	genome.wustl.edu	37	chr20	58443602	58443602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cttctatatatattcttttgCgactaagatgttgggtgggg	11	5	2	1	rs148819194		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr20:58443602C>T	ENST00000357552.3	-	38	4079	c.3854G>A	c.(3853-3855)cGc>cAc	p.R1285H	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1285H			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1285					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATTCTTTTGCGACTAAGATG	0.323													C|||	1	0.000199681	8e-04	0	5008	,	,		16400	0		0	False		,,,				2504	0																0								C	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	83	81	82		3854	-0.2	0.1	20	dbSNP_134	82	1,8597	1.2+/-3.3	0,1,4298	no	missense	SYCP2	NM_014258.2	29	0,5,6497	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging	1285/1531	58443602	5,12999	2203	4299	6502	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3854G>A	20.37:g.58443602C>T	ENSP00000350162:p.Arg1285His		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.R1285H	ENST00000357552.3	37	c.3854	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235471	0.39498	9.08E-4	1.16E-4	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.14893	2.47;2.47	5.77	-0.153	0.13403	.	0.717774	0.13323	N	0.396549	T	0.11495	0.0280	L	0.40543	1.245	0.09310	N	1	B	0.21381	0.055	B	0.16722	0.016	T	0.25117	-1.0141	10	0.48119	T	0.1	2.7894	3.6838	0.08320	0.4088:0.3109:0.0:0.2803	.	1285	Q9BX26	SYCP2_HUMAN	H	1285	ENSP00000360040:R1285H;ENSP00000350162:R1285H	ENSP00000350162:R1285H	R	-	2	0	SYCP2	57876997	0.442000	0.25633	0.147000	0.22382	0.511000	0.34104	0.162000	0.16501	0.070000	0.16634	0.591000	0.81541	CGC	SYCP2	-	NULL		0.323	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	C	NM_014258		58443602	-1	no_errors	ENST00000357552	ensembl	human	known	70_37	missense	SNP	0.055	T	T	58443602	C	T	58443602	3	4	182	1	0	0	0	0	1	0	0	0	15462	768	27	2	770	2	SYCP2	20	58443602	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	24679519	58443602	4581918	170	34079										
DIDO1	11083	genome.wustl.edu	37	chr20	61512828	61512828	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gagagcttcttcttgctcctCcagctgtctcttctgctcct	7	15	4	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr20:61512828C>G	ENST00000266070.4	-	16	4805	c.4480G>C	c.(4480-4482)Gag>Cag	p.E1494Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1494Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1494					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTTGCTCCTCCAGCTGTCTC	0.617																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													95	93	94					20																	61512828		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4480G>C	20.37:g.61512828C>G	ENSP00000266070:p.Glu1494Gln		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E1494Q	ENST00000266070.4	37	c.4480	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799491	0.90538	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10477	2.87;2.87	5.8	5.8	0.92144	.	0.000000	0.43416	D	0.000569	T	0.31358	0.0794	M	0.65320	2	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.00168	-1.1963	10	0.33940	T	0.23	-48.9073	20.063	0.97692	0.0:1.0:0.0:0.0	.	1494	Q9BTC0	DIDO1_HUMAN	Q	1494	ENSP00000266070:E1494Q;ENSP00000378752:E1494Q	ENSP00000266070:E1494Q	E	-	1	0	DIDO1	60983273	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.789000	0.69029	2.735000	0.93741	0.655000	0.94253	GAG	DIDO1	-	NULL		0.617	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61512828	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61512828	C	G	61512828	3	3	182	1	0	0	0	0	1	0	0	0	4532	864	30	1	2246	1	DIDO1	20	61512828	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	3069226	61512828	1512692	171	34080										
SAMSN1	64092	genome.wustl.edu	37	chr21	15858251	15858251	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gttcagtcacttggctctgtGataataatcttatgtaccat	7	8	4	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr21:15858251G>A	ENST00000400566.1	-	8	1185	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	SAMSN1_ENST00000400564.1_Silent_p.I200I|SAMSN1_ENST00000285670.2_Silent_p.I436I	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	368					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTGGCTCTGTGATAATAATCT	0.388																																																	0													163	148	152					21																	15858251		1863	4126	5989	SO:0001819	synonymous_variant	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.1104C>T	21.37:g.15858251G>A			B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.I368	ENST00000400566.1	37	c.1104	CCDS42906.1	21																																																																																			SAMSN1	-	NULL		0.388	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	HGNC	protein_coding	OTTHUMT00000157914.1	G			15858251	-1	no_errors	ENST00000400566	ensembl	human	known	70_37	silent	SNP	0.993	A	A	15858251	G	A	15858251	2	1	182	1	0	0	0	0	0	0	0	1	13860	1280	45	1		1	SAMSN1	21	15858251	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09		15858251	32271644	172	34081										
ADAMTS5	11096	genome.wustl.edu	37	chr21	28338227	28338227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cagtggctttagggtgtagcGcgcgtgcttgaccgcgaaga	16	9	0	2	rs551411133		TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr21:28338227G>A	ENST00000284987.5	-	1	605	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	162					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGGGTGTAGCGCGCGTGCTTG	0.647																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0													25	26	26					21																	28338227		2202	4295	6497	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.484C>T	21.37:g.28338227G>A	ENSP00000284987:p.Arg162Cys		Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.R162C	ENST00000284987.5	37	c.484	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628930	0.87560	.	.	ENSG00000154736	ENST00000284987	T	0.06608	3.28	4.57	4.57	0.56435	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.44528	-0.9322	10	0.87932	D	0	.	17.5536	0.87884	0.0:0.0:1.0:0.0	.	162	Q9UNA0	ATS5_HUMAN	C	162	ENSP00000284987:R162C	ENSP00000284987:R162C	R	-	1	0	ADAMTS5	27260098	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.226000	0.78060	2.344000	0.79699	0.561000	0.74099	CGC	ADAMTS5	-	pfam_Peptidase_M12B_N,prints_Pept_M12B_ADAM-TS5		0.647	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	G			28338227	-1	no_errors	ENST00000284987	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28338227	G	A	28338227	3	1	182	1	0	0	0	0	1	0	0	0	269	1087	38	2	2340	2	ADAMTS5	21	28338227	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	12479976	28338227	19791668	173	34082										
PRDM15	63977	genome.wustl.edu	37	chr21	43256674	43256674	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttgtgctccccgagctgtttGatgagcttgcgccggatgcc	13	12	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr21:43256674G>C	ENST00000269844.3	-	16	2294	c.2184C>G	c.(2182-2184)atC>atG	p.I728M	PRDM15_ENST00000422911.1_Missense_Mutation_p.I399M|PRDM15_ENST00000447207.2_Missense_Mutation_p.I362M|PRDM15_ENST00000398548.1_Missense_Mutation_p.I399M|PRDM15_ENST00000538201.1_Missense_Mutation_p.I362M	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	728					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGAGCTGTTTGATGAGCTTGC	0.547																																																	0													193	177	182					21																	43256674		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2184C>G	21.37:g.43256674G>C	ENSP00000269844:p.Ile728Met		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.I728M	ENST00000269844.3	37	c.2184	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598021	0.28445	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.08546	3.14;3.13;3.14;3.12;3.08	4.88	0.735	0.18300	.	.	.	.	.	T	0.04770	0.0129	N	0.24115	0.695	0.09310	N	1	P;B;B	0.45283	0.855;0.055;0.306	B;B;B	0.35859	0.212;0.04;0.084	T	0.36986	-0.9725	9	0.51188	T	0.08	-6.7367	6.305	0.21133	0.0774:0.4611:0.3355:0.126	.	728;399;399	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	M	399;399;362;362;728;362	ENSP00000408592:I399M;ENSP00000381556:I399M;ENSP00000444044:I362M;ENSP00000390245:I362M;ENSP00000269844:I728M	ENSP00000269844:I728M	I	-	3	3	PRDM15	42129743	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	-0.808000	0.04515	-0.165000	0.10908	0.655000	0.94253	ATC	PRDM15	-	NULL		0.547	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		G	NM_022115		43256674	-1	no_errors	ENST00000269844	ensembl	human	known	70_37	missense	SNP	0.000	C	C	43256674	G	C	43256674	3	2	182	1	0	0	0	0	1	0	0	0	12483	1280	45	1	2403	1	PRDM15	21	43256674	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	14918447	43256674	4873221	174	34083										
GSTT1	2952	genome.wustl.edu	37	chr22	24381725	24381725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	cgtcaaggtgaagtccccgtCcttcaaggctggcaccttct	10	14	3	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr22:24381725C>T	ENST00000248935.5	-	2	227	c.175G>A	c.(175-177)Gac>Aac	p.D59N	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		59	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	AAGTCCCCGTCCTTCAAGGCT	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																																								0													100	85	90					22																	24381725		1707	3612	5319	SO:0001583	missense	2952	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																												ENST00000248935.5:c.175G>A	22.37:g.24381725C>T	ENSP00000248935:p.Asp59Asn		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.D59N	ENST00000248935.5	37	c.175	CCDS13822.1	22	.	.	.	.	.	.	.	.	.	.	.	21.5	4.152555	0.78001	.	.	ENSG00000184674	ENST00000248935;ENST00000447865	T;T	0.09163	3.01;3.01	4.84	4.84	0.62591	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.40196	0.1107	M	0.90705	3.14	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.49799	-0.8901	10	0.72032	D	0.01	-17.8244	15.879	0.79189	0.0:1.0:0.0:0.0	.	59	P30711	GSTT1_HUMAN	N	59	ENSP00000248935:D59N;ENSP00000397362:D59N	ENSP00000248935:D59N	D	-	1	0	GSTT1	22711725	1.000000	0.71417	0.997000	0.53966	0.243000	0.25628	6.492000	0.73654	2.438000	0.82558	0.650000	0.86243	GAC	GSTT1	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.562	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT1	HGNC	protein_coding	OTTHUMT00000320184.2	C			24381725	-1	no_errors	ENST00000248935	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24381725	C	T	24381725	3	4	182	1	0	0	0	0	1	0	0	0	6865	855	30	1	563	1	GSTT1	22	24381725	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		24381725	26922841	175	34084										
APOBEC3B	9582	genome.wustl.edu	37	chr22	39385582	39385582	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gacaatggcacctgggtcctGatggaccagcacatgggctt	13	11	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr22:39385582G>C	ENST00000333467.3	+	5	735	c.690G>C	c.(688-690)ctG>ctC	p.L230L	APOBEC3B_ENST00000402182.3_Silent_p.L230L|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Silent_p.L230L	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	230					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CCTGGGTCCTGATGGACCAGC	0.552																																																	0													68	58	62					22																	39385582		2198	4279	6477	SO:0001819	synonymous_variant	9582			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.690G>C	22.37:g.39385582G>C			B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.L230	ENST00000333467.3	37	c.690	CCDS13982.1	22																																																																																			APOBEC3B	-	pfam_APOBEC_N		0.552	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	HGNC	protein_coding	OTTHUMT00000321233.1	G	NM_004900		39385582	1	no_errors	ENST00000333467	ensembl	human	known	70_37	silent	SNP	0.000	C	C	39385582	G	C	39385582	2	2	182	1	0	0	0	0	0	0	0	1	790	1277	45	1		1	APOBEC3B	22	39385582	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	15003857	39385582	11918984	176	34085										
L3MBTL2	83746	genome.wustl.edu	37	chr22	41605844	41605844	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	agtcaagtgaagcagaaaatGaggatcgggaagcaggggaa	16	4	1	3			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chr22:41605844G>A	ENST00000216237.5	+	2	327	c.169G>A	c.(169-171)Gag>Aag	p.E57K	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	57					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E57K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAGAAAATGAGGATCGGGA	0.557																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											142	138	139					22																	41605844		2203	4300	6503	SO:0001583	missense	83746			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.169G>A	22.37:g.41605844G>A	ENSP00000216237:p.Glu57Lys		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.E57K	ENST00000216237.5	37	c.169	CCDS14011.1	22	.	.	.	.	.	.	.	.	.	.	G	18.15	3.558972	0.65538	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	T	0.20332	2.08	5.36	4.32	0.51571	.	0.520111	0.20332	N	0.094412	T	0.14442	0.0349	N	0.24115	0.695	0.26030	N	0.981756	B	0.29037	0.231	B	0.21917	0.037	T	0.11060	-1.0603	10	0.22706	T	0.39	.	15.1449	0.72643	0.0:0.0:0.8576:0.1424	.	57	Q969R5	LMBL2_HUMAN	K	57;49	ENSP00000216237:E57K	ENSP00000216237:E57K	E	+	1	0	L3MBTL2	39935790	1.000000	0.71417	0.890000	0.34922	0.980000	0.70556	6.323000	0.72891	1.206000	0.43276	0.650000	0.86243	GAG	L3MBTL2	-	NULL		0.557	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	G	NM_031488		41605844	1	no_errors	ENST00000216237	ensembl	human	known	70_37	missense	SNP	0.670	A	A	41605844	G	A	41605844	3	1	182	1	0	0	0	0	1	0	0	0	8612	1291	45	1	175	1	L3MBTL2	22	41605844	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2220262	41605844	9698722	177	34086										
FAM9B	171483	genome.wustl.edu	37	chrX	8995967	8995967	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcctctctctcctaacacttCtatattgttgccacttcttc	3	15	4	0			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:8995967C>T	ENST00000327220.5	-	7	798	c.434G>A	c.(433-435)aGa>aAa	p.R145K	FAM9B_ENST00000428477.1_Missense_Mutation_p.R145K|FAM9B_ENST00000362066.3_Missense_Mutation_p.R185K			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	145						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CCTAACACTTCTATATTGTTG	0.313																																																	0													215	181	193					X																	8995967		2203	4300	6503	SO:0001583	missense	171483				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"testis expressed 39B"	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.434G>A	X.37:g.8995967C>T	ENSP00000318716:p.Arg145Lys		Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.R145K	ENST00000327220.5	37	c.434	CCDS14132.1	X	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811830	0.32053	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	1.31	-2.62	0.06152	.	.	.	.	.	T	0.34861	0.0912	L	0.43923	1.385	0.09310	N	1	P;P	0.42961	0.795;0.795	P;P	0.52267	0.694;0.694	T	0.30650	-0.9971	8	0.59425	D	0.04	.	2.3591	0.04303	0.3223:0.3533:0.3244:0.0	.	145;185	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	K	185;145;145	.	ENSP00000318716:R145K	R	-	2	0	FAM9B	8955967	0.901000	0.30685	0.003000	0.11579	0.017000	0.09413	0.446000	0.21694	-0.474000	0.06862	0.292000	0.19580	AGA	FAM9B	-	pfam_Cor1/Xlr/Xmr		0.313	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9B	HGNC	protein_coding	OTTHUMT00000055702.2	C	NM_205849		8995967	-1	no_errors	ENST00000327220	ensembl	human	known	70_37	missense	SNP	0.002	T	T	8995967	C	T	8995967	3	4	182	1	0	0	0	0	1	0	0	0	5678	913	32	1	134	1	FAM9B	23	8995967	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09		8995967	146274593	178	34087										
PHF16	9767	genome.wustl.edu	37	chrX	46918303	46918303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ctccatatcaggaaaatgatGgctattgcccagatttggag	10	8	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:46918303G>A	ENST00000218343.4	+	11	2594	c.2296G>A	c.(2296-2298)Ggc>Agc	p.G766S	PHF16_ENST00000397189.1_Missense_Mutation_p.G766S	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGAAAATGATGGCTATTGCCC	0.478																																																	0													48	42	44					X																	46918303		2203	4300	6503	SO:0001583	missense	9767																														ENST00000218343.4:c.2296G>A	X.37:g.46918303G>A	ENSP00000218343:p.Gly766Ser			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G766S	ENST00000218343.4	37	c.2296	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467451	0.84533	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.66995	-0.24;-0.24	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000004	T	0.75737	0.3890	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78703	-0.2101	10	0.87932	D	0	.	18.4761	0.90793	0.0:0.0:1.0:0.0	.	766	Q92613	JADE3_HUMAN	S	766	ENSP00000380373:G766S;ENSP00000218343:G766S	ENSP00000218343:G766S	G	+	1	0	PHF16	46803247	1.000000	0.71417	0.985000	0.45067	0.976000	0.68499	9.121000	0.94375	2.304000	0.77564	0.594000	0.82650	GGC	PHF16	-	NULL		0.478	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	G			46918303	1	no_errors	ENST00000218343	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46918303	G	A	46918303	3	1	182	1	0	0	0	0	1	0	0	0	11851	1348	47	4	2334	4	PHF16	23	46918303	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	37922336	46918303	108352257	179	34088										
PHF8	23133	genome.wustl.edu	37	chrX	54040926	54040926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gggtctctcaaagacacattCctctggccacaagttttcga	8	12	3	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:54040926C>T	ENST00000357988.5	-	7	1133	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	PHF8_ENST00000338154.6_Missense_Mutation_p.E223K|PHF8_ENST00000338946.6_Missense_Mutation_p.E223K|PHF8_ENST00000322659.8_Missense_Mutation_p.E223K	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	259	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AAGACACATTCCTCTGGCCAC	0.478																																																	0													154	99	117					X																	54040926		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.775G>A	X.37:g.54040926C>T	ENSP00000350676:p.Glu259Lys		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.E259K	ENST00000357988.5	37	c.775	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849178	0.71603	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.24	5.24	0.73138	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.159958	0.53938	D	0.000045	T	0.55065	0.1897	L	0.31845	0.965	0.50813	D	0.999895	P;P;P	0.47910	0.842;0.902;0.786	B;B;B	0.34180	0.086;0.177;0.104	T	0.61322	-0.7086	10	0.48119	T	0.1	-4.8374	12.4762	0.55814	0.0:0.8352:0.1648:0.0	.	223;259;259	B7Z911;Q9UPP1-3;Q9UPP1	.;.;PHF8_HUMAN	K	259;223;223;253;223	ENSP00000350676:E259K;ENSP00000338868:E223K;ENSP00000340051:E223K;ENSP00000319473:E223K	ENSP00000319473:E223K	E	-	1	0	PHF8	54057651	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	5.977000	0.70492	2.182000	0.69389	0.494000	0.49563	GAA	PHF8	-	smart_JmjC_dom,pfscan_JmjC_dom		0.478	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	C	NM_015107		54040926	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54040926	C	T	54040926	3	4	182	1	0	0	0	0	1	0	0	0	11864	864	30	1	2641	1	PHF8	23	54040926	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	7122623	54040926	101229634	180	34089										
MAGEE1	57692	genome.wustl.edu	37	chrX	75648437	75648437	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aatgcccccggtctccccgcTgatgtgccaggctcagacgt	11	16	2	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:75648437T>C	ENST00000361470.2	+	1	392	c.114T>C	c.(112-114)gcT>gcC	p.A38A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	38						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTCTCCCCGCTGATGTGCCAG	0.682																																																	0													22	19	20					X																	75648437		2145	4204	6349	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.114T>C	X.37:g.75648437T>C			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.A38	ENST00000361470.2	37	c.114	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.682	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	T	NM_020932		75648437	1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.003	C	C	75648437	T	C	75648437	2	2	182	1	0	0	0	0	0	0	0	1	9208	1567	55	5		5	MAGEE1	23	75648437	Silent	SNP	T	TCGA-Q1-A6DT-01A-11D-A32I-09	21607511	75648437	79622123	181	34090										
BTK	695	genome.wustl.edu	37	chrX	100608249	100608249	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gatgaggcctgtagagacgtAggccttgggcaatgtgttca	15	7	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:100608249A>T	ENST00000308731.7	-	18	2004	c.1841T>A	c.(1840-1842)cTa>cAa	p.L614Q	BTK_ENST00000372880.1_Missense_Mutation_p.L438Q	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTAGAGACGTAGGCCTTGGGC	0.433									Agammaglobulinemia, X-linked																																								0													233	209	217					X																	100608249		2203	4300	6503	SO:0001583	missense	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1841T>A	X.37:g.100608249A>T	ENSP00000308176:p.Leu614Gln		B2RAW1|Q32ML5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.L614Q	ENST00000308731.7	37	c.1841	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	A	14.28	2.489227	0.44249	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000308731	D;D	0.82167	-1.58;-1.58	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.329046	0.29486	N	0.012011	T	0.71039	0.3293	N	0.11284	0.12	0.36347	D	0.859862	B;B;B;B	0.27765	0.047;0.032;0.181;0.188	B;B;B;B	0.33042	0.023;0.019;0.157;0.029	T	0.72984	-0.4125	10	0.30854	T	0.27	.	14.0357	0.64642	1.0:0.0:0.0:0.0	.	438;285;189;614	Q5JY90;Q3MS96;Q572P5;Q06187	.;.;.;BTK_HUMAN	Q	438;163;94;189;614	ENSP00000361971:L438Q;ENSP00000308176:L614Q	ENSP00000308176:L614Q	L	-	2	0	BTK	100494905	0.977000	0.34250	0.996000	0.52242	0.830000	0.47004	2.580000	0.46068	1.840000	0.53500	0.486000	0.48141	CTA	BTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.433	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	A	NM_000061		100608249	-1	no_errors	ENST00000308731	ensembl	human	known	70_37	missense	SNP	0.842	T	T	100608249	A	T	100608249	3	4	182	1	0	0	0	0	1	0	0	0	1560	420	15	5	146	5	BTK	23	100608249	Missense_Mutation	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	24959812	100608249	54662311	182	34091										
ZBTB33	10009	genome.wustl.edu	37	chrX	119388904	119388904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	aaagcatgaaattcatcacaCaggggagcgaaggtatcagt	11	7	3	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:119388904C>T	ENST00000326624.2	+	2	1862	c.1634C>T	c.(1633-1635)aCa>aTa	p.T545I	ZBTB33_ENST00000557385.1_Missense_Mutation_p.T545I	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	545	Interaction with CTNND1. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATTCATCACACAGGGGAGCGA	0.398																																																	0													135	122	126					X																	119388904		2203	4300	6503	SO:0001583	missense	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1634C>T	X.37:g.119388904C>T	ENSP00000314153:p.Thr545Ile		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T545I	ENST00000326624.2	37	c.1634	CCDS14596.1	X	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369321	0.61624	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.25749	1.78;1.78	5.55	5.55	0.83447	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51779	-0.8662	10	0.87932	D	0	-12.2244	17.3434	0.87303	0.0:1.0:0.0:0.0	.	545	Q86T24	KAISO_HUMAN	I	545	ENSP00000314153:T545I;ENSP00000450969:T545I	ENSP00000314153:T545I	T	+	2	0	ZBTB33;AC002086.1	119272932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.308000	0.77769	0.513000	0.50165	ACA	ZBTB33	-	pfscan_Znf_C2H2		0.398	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	C	NM_006777		119388904	1	no_errors	ENST00000326624	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119388904	C	T	119388904	3	4	182	1	0	0	0	0	1	0	0	0	17566	478	17	4	1636	4	ZBTB33	23	119388904	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	18780655	119388904	35881656	183	34092										
DCAF12L2	340578	genome.wustl.edu	37	chrX	125298663	125298663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ccaaagtagttcacccagacGtcatcttggttgagccagcc	9	13	3	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:125298663G>A	ENST00000360028.2	-	1	1271	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	DCAF12L2_ENST00000538699.1_Silent_p.D415D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	415										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCACCCAGACGTCATCTTGGT	0.617																																																	0													102	104	104					X																	125298663		2203	4300	6503	SO:0001819	synonymous_variant	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1245C>T	X.37:g.125298663G>A			B2RN42	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D415	ENST00000360028.2	37	c.1245	CCDS43991.1	X																																																																																			DCAF12L2	-	NULL		0.617	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	G	NM_001013628		125298663	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	silent	SNP	0.163	A	A	125298663	G	A	125298663	2	1	182	1	0	0	0	0	0	0	0	1	4270	1136	40	2		2	DCAF12L2	23	125298663	Silent	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	5909759	125298663	29971897	184	34093										
USP26	83844	genome.wustl.edu	37	chrX	132159937	132159937	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	attttgtaggtcttaggaggTtctttgtgtgcccctgggtg	14	6	2	0	rs146525524	byFrequency	TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:132159937T>G	ENST00000511190.1	-	6	2781	c.2312A>C	c.(2311-2313)aAc>aCc	p.N771T	USP26_ENST00000370832.1_Missense_Mutation_p.N771T|USP26_ENST00000406273.1_Missense_Mutation_p.N771T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	771	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTAGGAGGTTCTTTGTGTG	0.453																																					NSCLC(104;342 1621 36940 47097 52632)												0								T	THR/ASN	0,3835		0,0,0,1632,571	96	98	97		2312	1.5	0	X	dbSNP_134	97	1,6727		0,0,1,2428,1871	no	missense	USP26	NM_031907.1	65	0,0,1,4060,2442	GG,GT,G,TT,T		0.0149,0.0,0.0095	benign	771/914	132159937	1,10562	2203	4300	6503	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2312A>C	X.37:g.132159937T>G	ENSP00000423390:p.Asn771Thr		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.N771T	ENST00000511190.1	37	c.2312	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	T	9.099	1.003681	0.19121	0.0	1.49E-4	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.74421	-0.84;-0.84;-0.84	3.92	1.51	0.23008	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.744085	0.11534	N	0.554422	T	0.60971	0.2310	L	0.34521	1.04	0.09310	N	1	B	0.25105	0.118	B	0.32090	0.14	T	0.53464	-0.8435	10	0.48119	T	0.1	-0.7571	2.4063	0.04414	0.2114:0.2383:0.0:0.5503	.	771	Q9BXU7	UBP26_HUMAN	T	771	ENSP00000359869:N771T;ENSP00000423390:N771T;ENSP00000384360:N771T	ENSP00000359869:N771T	N	-	2	0	USP26	131987603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.123000	0.10611	0.206000	0.20587	-0.314000	0.08810	AAC	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.453	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	T	NM_031907		132159937	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	missense	SNP	0.000	G	G	132159937	T	G	132159937	3	3	182	1	0	0	0	0	1	0	0	0	17088	1725	60	5	432	5	USP26	23	132159937	Missense_Mutation	SNP	T	TCGA-Q1-A6DT-01A-11D-A32I-09	6861274	132159937	23110623	185	34094										
MAGEA5	4104	genome.wustl.edu	37	chrX	151283808	151283808	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gatggcagtggggatggcggAggctccctgaggactcttga	18	8	1	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:151283808A>T	ENST00000509345.2	-	0	528																											GGGATGGCGGAGGCTCCCTGA	0.622																																																	0													70	67	68					X																	151283808		2203	4300	6503			0																															X.37:g.151283808A>T				RNA	SNP	-	NULL	ENST00000509345.2	37	NULL		X																																																																																			RP11-1007I13.4	-	-		0.622	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000266560	Clone_based_vega_gene	processed_transcript	OTTHUMT00000445981.1	A			151283808	-1	no_errors	ENST00000509345	ensembl	human	known	70_37	rna	SNP	0.000	T	T	151283808	A	T	151283808	1	4	182	0	1	0	0	0	0	0	0	0	9192	304	11	5		5	MAGEA5	23	151283808	RNA	SNP	A	TCGA-Q1-A6DT-01A-11D-A32I-09	19123871	151283808	3986752	186	34095										
OPN1MW	2652	genome.wustl.edu	37	chrX	153459060	153459060	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ggctaccccttccaccctttGatggctgccctgccggcctt	9	18	0	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:153459060G>C	ENST00000369935.5	+	5	966	c.906G>C	c.(904-906)ttG>ttC	p.L302F		NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	302					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCACCCTTTGATGGCTGCCC	0.542																																																	0													73	79	78					X																	153459060		1401	3776	5177	SO:0001583	missense	2652			K03494	CCDS14743.1	Xq28	2013-01-08	2008-04-16		ENSG00000147380	ENSG00000268221		"GPCR / Class A : Opsin receptors"	4206	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300821	"color blindness, deutan", "green cone photoreceptor pigment"	GCP, CBBM, CBD			Standard	NM_000513		Approved	OPN1MW1, COD5	uc004fkb.3	P04001	OTTHUMG00000022652	ENST00000369935.5:c.906G>C	X.37:g.153459060G>C	ENSP00000358951:p.Leu302Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.L302F	ENST00000369935.5	37	c.906	CCDS14743.1	X	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441320	0.25900	.	.	ENSG00000147380	ENST00000369935	T	0.38887	1.11	3.15	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.59142	0.2172	M	0.83223	2.63	0.46586	D	0.999119	D	0.60575	0.988	D	0.67548	0.952	T	0.56884	-0.7905	10	0.66056	D	0.02	.	5.474	0.16686	0.0:0.184:0.4163:0.3997	.	302	P04001	OPSG_HUMAN	F	302	ENSP00000358951:L302F	ENSP00000358951:L302F	L	+	3	2	OPN1MW	153112254	0.001000	0.12720	0.893000	0.35052	0.150000	0.21749	0.775000	0.26689	0.267000	0.21916	0.171000	0.16805	TTG	OPN1MW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_Opsin		0.542	OPN1MW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1MW	HGNC	protein_coding	OTTHUMT00000058771.3	G	NM_000513		153459060	1	no_errors	ENST00000369935	ensembl	human	known	70_37	missense	SNP	0.995	C	C	153459060	G	C	153459060	3	2	182	1	0	0	0	0	1	0	0	0	10902	1281	45	1	924	1	OPN1MW	23	153459060	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	2175252	153459060	1811500	187	34096										
FLNA	2316	genome.wustl.edu	37	chrX	153579990	153579990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	gcggcgggcgtcgccagacgGagaagccacaggcaccacga	16	14	0	2			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:153579990G>T	ENST00000369850.3	-	43	7218	c.6982C>A	c.(6982-6984)Ccg>Acg	p.P2328T	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.P2288T|FLNA_ENST00000360319.4_Missense_Mutation_p.P2320T|FLNA_ENST00000369856.3_Missense_Mutation_p.P461T|FLNA_ENST00000422373.1_Missense_Mutation_p.P2320T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2328					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGCCAGACGGAGAAGCCACA	0.617																																																	0													38	44	42					X																	153579990		2109	4226	6335	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6982C>A	X.37:g.153579990G>T	ENSP00000358866:p.Pro2328Thr		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.P2328T	ENST00000369850.3	37	c.6982	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280679	0.23392	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.42	5.42	0.78866	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.071540	0.56097	D	0.000037	D	0.85986	0.5825	N	0.25789	0.76	0.44366	D	0.997268	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.001	T	0.81409	-0.0946	10	0.36615	T	0.2	.	12.076	0.53644	0.0:0.0:0.6995:0.3005	.	461;2320;2328;2328	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	T	2320;1996;2320;2328;461;2288;268	ENSP00000353467:P2320T;ENSP00000416926:P2320T;ENSP00000358866:P2328T;ENSP00000358872:P461T;ENSP00000358863:P2288T;ENSP00000397824:P268T	ENSP00000358863:P2288T	P	-	1	0	FLNA	153233184	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	3.765000	0.55272	2.280000	0.76307	0.523000	0.50628	CCG	FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153579990	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153579990	G	T	153579990	3	4	182	1	0	0	0	0	1	0	0	0	5951	1174	41	3	985	3	FLNA	23	153579990	Missense_Mutation	SNP	G	TCGA-Q1-A6DT-01A-11D-A32I-09	120930	153579990	1690570	188	34097										
SPRY3	10251	genome.wustl.edu	37	chrX	155003588	155003588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.319148936170213	60	1.02936420070142e-14	2.96339720807533	5.05065958941535	2.0127628561779	0.590013426795371	0.785144011597075	40	ttctgcctattgaacagctgCgctctactcatgctagcaat	7	12	3	1			TCGA-Q1-A6DT-01A-11D-A32I-09	TCGA-Q1-A6DT-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3b423342-bc9a-4c60-9f5e-992e4aa439fa	6d359d66-e4c7-479a-99f7-38829c1b83bd	g.chrX:155003588C>T	ENST00000302805.2	+	2	486	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	19					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAACAGCTGCGCTCTACTCA	0.488																																																	0													216	211	213					X																	155003588		2203	4296	6499	SO:0001583	missense	10251			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.55C>T	X.37:g.155003588C>T	ENSP00000302978:p.Arg19Cys		A8K0H8	Missense_Mutation	SNP	pfam_Sprouty	p.R19C	ENST00000302805.2	37	c.55	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290273	0.23478	.	.	ENSG00000168939	ENST00000302805;ENST00000369437	T	0.59906	0.23	3.14	2.25	0.28309	.	0.071232	0.53938	D	0.000043	T	0.42539	0.1207	.	.	.	0.18873	N	0.999987	B;B	0.21905	0.062;0.004	B;B	0.11329	0.006;0.001	T	0.43343	-0.9397	9	0.87932	D	0	-16.6501	7.3007	0.26418	0.0:0.8512:0.0:0.1488	.	19;19	Q6ZUP3;O43610	.;SPY3_HUMAN	C	19	ENSP00000302978:R19C	ENSP00000302978:R19C	R	+	1	0	SPRY3	154656782	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.575000	0.36493	1.593000	0.50029	0.279000	0.19357	CGC	SPRY3	-	NULL		0.488	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	C	NM_005840		155003588	1	no_errors	ENST00000302805	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155003588	C	T	155003588	3	4	182	1	0	0	0	0	1	0	0	0	15137	768	27	2	57	2	SPRY3	23	155003588	Missense_Mutation	SNP	C	TCGA-Q1-A6DT-01A-11D-A32I-09	1423598	155003588	266972	189	34098										
MAGI3	260425	genome.wustl.edu	37	chr1	114224863	114224863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	cttccggtctgtgctcctacGtgaaacccgagcaacattaa	8	13	1	1	rs141671759		TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr1:114224863G>A	ENST00000369615.1	+	21	3420	c.3358G>A	c.(3358-3360)Gtg>Atg	p.V1120M	MAGI3_ENST00000369611.4_Missense_Mutation_p.V1120M|MAGI3_ENST00000307546.9_Intron|MAGI3_ENST00000369617.4_Missense_Mutation_p.V1145M	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	0	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGCTCCTACGTGAAACCCGA	0.388																																																	0								G	,MET/VAL	0,4406		0,0,2203	129	136	134		,3358	5.7	1	1	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	MAGI3	NM_001142782.1,NM_152900.2	,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,1120/1126	114224863	1,13005	2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000369615.1:c.3358G>A	1.37:g.114224863G>A	ENSP00000358628:p.Val1120Met		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.V1120M	ENST00000369615.1	37	c.3358	CCDS860.1	1	.	.	.	.	.	.	.	.	.	.	G	7.423	0.637132	0.14386	0.0	1.16E-4	ENSG00000081026	ENST00000369617;ENST00000369615;ENST00000369611	T;T;T	0.13901	2.56;2.55;2.55	5.69	5.69	0.88448	.	.	.	.	.	T	0.04452	0.0122	.	.	.	0.40149	D	0.976929	P;P	0.43607	0.626;0.812	B;B	0.28385	0.062;0.089	T	0.43410	-0.9393	8	0.21540	T	0.41	.	19.812	0.96551	0.0:0.0:1.0:0.0	.	1120;1145	Q5TCQ9-3;Q5TCQ9-2	.;.	M	1145;1120;1120	ENSP00000358630:V1145M;ENSP00000358628:V1120M;ENSP00000358624:V1120M	ENSP00000358624:V1120M	V	+	1	0	MAGI3	114026386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.624000	0.67764	2.683000	0.91414	0.557000	0.71058	GTG	MAGI3	-	NULL		0.388	MAGI3-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032428.1	G	NM_152900		114224863	1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	A	A	114224863	G	A	114224863	3	1	183	1	0	0	0	0	1	0	0	0	9215	1145	40	2	3440	2	MAGI3	1	114224863	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09		114224863	135025758	1	34099										
HHIPL2	79802	genome.wustl.edu	37	chr1	222717481	222717481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	cccgggagattccggagaggCgtctgggtgttttcggcgtc	17	10	1	2			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr1:222717481C>T	ENST00000343410.6	-	2	430	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	124					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCGGAGAGGCGTCTGGGTGT	0.597																																																	0													87	100	96					1																	222717481		1956	4138	6094	SO:0001819	synonymous_variant	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.372G>A	1.37:g.222717481C>T			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.T124	ENST00000343410.6	37	c.372	CCDS1530.2	1																																																																																			HHIPL2	-	pfam_Folate_rcpt-like,superfamily_Saposin-like		0.597	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	C	NM_024746		222717481	-1	no_errors	ENST00000343410	ensembl	human	known	70_37	silent	SNP	0.435	T	T	222717481	C	T	222717481	2	4	183	1	0	0	0	0	0	0	0	1	7114	755	27	2		2	HHIPL2	1	222717481	Silent	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	108492618	222717481	26533140	2	34100										
WDR92	116143	genome.wustl.edu	37	chr2	68358570	68358570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	tttctttgaccgctgaatagGgtattcactgaaaacaagat	8	7	2	4			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr2:68358570G>T	ENST00000295121.6	-	8	990	c.874C>A	c.(874-876)Cct>Act	p.P292T	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	292					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CGCTGAATAGGGTATTCACTG	0.388																																																	0													68	66	67					2																	68358570		2203	4300	6503	SO:0001583	missense	116143			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"WD repeat domain containing"	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.874C>A	2.37:g.68358570G>T	ENSP00000295121:p.Pro292Thr		Q96CR6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P292T	ENST00000295121.6	37	c.874	CCDS1884.1	2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857079	0.91433	.	.	ENSG00000243667	ENST00000295121	D	0.89939	-2.59	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000006	D	0.96103	0.8730	M	0.93328	3.405	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96538	0.9398	10	0.87932	D	0	.	18.536	0.91010	0.0:0.0:1.0:0.0	.	292	Q96MX6	WDR92_HUMAN	T	292	ENSP00000295121:P292T	ENSP00000295121:P292T	P	-	1	0	WDR92	68212074	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.420000	0.97426	2.890000	0.99128	0.585000	0.79938	CCT	WDR92	-	superfamily_WD40_repeat_dom		0.388	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR92	HGNC	protein_coding	OTTHUMT00000251754.2	G	NM_138458		68358570	-1	no_errors	ENST00000295121	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68358570	G	T	68358570	3	4	183	1	0	0	0	0	1	0	0	0	17370	1232	43	4	203	4	WDR92	2	68358570	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09		68358570	174840803	3	34101										
DCTN1	1639	genome.wustl.edu	37	chr2	74594182	74594182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gtgttctcacctgcaagaagGcacgcagccgtcctacctcc	9	16	1	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr2:74594182G>A	ENST00000361874.3	-	20	2623	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	DCTN1_ENST00000409438.1_Missense_Mutation_p.A635V|DCTN1_ENST00000407639.2_Missense_Mutation_p.A635V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A732V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A749V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A752V|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.A762V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	769					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTGCAAGAAGGCACGCAGCCG	0.517																																																	0													89	73	78					2																	74594182		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2306C>T	2.37:g.74594182G>A	ENSP00000354791:p.Ala769Val		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.A769V	ENST00000361874.3	37	c.2306	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408362	0.62399	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.44	5.44	0.79542	.	0.000000	0.43110	D	0.000620	T	0.79399	0.4439	L	0.35723	1.085	0.80722	D	1	B;B;P;B;B;P	0.41784	0.042;0.238;0.762;0.025;0.08;0.72	B;B;B;B;B;B	0.42245	0.047;0.186;0.381;0.026;0.041;0.263	T	0.77498	-0.2565	10	0.32370	T	0.25	-6.5715	18.2031	0.89846	0.0:0.0:1.0:0.0	.	749;732;769;762;635;635	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	V	769;762;752;635;635;732;752;749	ENSP00000354791:A769V;ENSP00000377571:A762V;ENSP00000384844:A635V;ENSP00000387270:A635V;ENSP00000386406:A732V;ENSP00000387327:A752V;ENSP00000386843:A749V	ENSP00000354791:A769V	A	-	2	0	DCTN1	74447690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.801000	0.75170	2.837000	0.97791	0.655000	0.94253	GCC	DCTN1	-	pfam_Dynactin		0.517	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	G	NM_004082		74594182	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74594182	G	A	74594182	3	1	183	1	0	0	0	0	1	0	0	0	4311	1203	42	4	1582	4	DCTN1	2	74594182	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	6235612	74594182	168605191	4	34102										
DYNC1I2	1781	genome.wustl.edu	37	chr2	172600662	172600662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	tgcctgtgtggatggcatggGgagattggatttgtggaatc	17	4	0	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr2:172600662G>T	ENST00000397119.3	+	16	1807	c.1640G>T	c.(1639-1641)gGg>gTg	p.G547V	DYNC1I2_ENST00000340296.4_Missense_Mutation_p.G521V|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.G539V|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.G541V|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.G541V|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.G521V|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.G547V|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.G539V|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.G547V|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.G547V|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.G521V	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	547					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GATGGCATGGGGAGATTGGAT	0.363																																																	0													72	66	68					2																	172600662		1833	4084	5917	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1640G>T	2.37:g.172600662G>T	ENSP00000380308:p.Gly547Val		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G547V	ENST00000397119.3	37	c.1640	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478971	0.84747	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	H	0.95917	3.74	0.80722	D	1	D;D;D;D;D	0.89917	0.989;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.883;1.0;0.999;0.999;1.0	D	0.95464	0.8545	10	0.87932	D	0	-8.8617	18.1643	0.89719	0.0:0.0:1.0:0.0	.	270;539;521;521;547	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	V	521;547;541;547;539;521;521;541;547;547;539	ENSP00000339430:G521V;ENSP00000433791:G547V;ENSP00000263811:G541V;ENSP00000380308:G547V;ENSP00000386522:G539V;ENSP00000423339:G521V;ENSP00000386397:G521V;ENSP00000386591:G541V;ENSP00000386415:G547V;ENSP00000386886:G547V;ENSP00000350692:G539V	ENSP00000263811:G541V	G	+	2	0	DYNC1I2	172308908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.290000	0.77057	0.650000	0.86243	GGG	DYNC1I2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.363	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	G	NM_001378		172600662	1	no_errors	ENST00000397119	ensembl	human	known	70_37	missense	SNP	1.000	T	T	172600662	G	T	172600662	3	4	183	1	0	0	0	0	1	0	0	0	4853	1232	43	4	1698	4	DYNC1I2	2	172600662	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	98006480	172600662	70598711	5	34103										
EVX2	344191	genome.wustl.edu	37	chr2	176948108	176948108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gttttccttaagctgagcggCgccgaggcccccgggggagc	16	13	0	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr2:176948108C>T	ENST00000308618.4	-	1	533	c.397G>A	c.(397-399)Gcc>Acc	p.A133T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	133					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCTGAGCGGCGCCGAGGCCC	0.682																																																	0													13	16	15					2																	176948108		2192	4287	6479	SO:0001583	missense	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.397G>A	2.37:g.176948108C>T	ENSP00000312385:p.Ala133Thr			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa	p.A133T	ENST00000308618.4	37	c.397	CCDS33333.1	2	.	.	.	.	.	.	.	.	.	.	C	2.508	-0.313608	0.05422	.	.	ENSG00000174279	ENST00000308618	D	0.91894	-2.93	5.43	3.63	0.41609	.	0.395100	0.24945	N	0.034341	D	0.85013	0.5600	L	0.38175	1.15	0.09310	N	1	B	0.25955	0.138	B	0.13407	0.009	T	0.66296	-0.5959	10	0.11485	T	0.65	-9.5731	11.0955	0.48141	0.1161:0.7759:0.0:0.1079	.	133	Q03828	EVX2_HUMAN	T	133	ENSP00000312385:A133T	ENSP00000312385:A133T	A	-	1	0	EVX2	176656354	0.959000	0.32827	0.011000	0.14972	0.002000	0.02628	1.280000	0.33202	0.290000	0.22444	-1.731000	0.00696	GCC	EVX2	-	NULL		0.682	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1	C			176948108	-1	no_errors	ENST00000308618	ensembl	human	known	70_37	missense	SNP	0.025	T	T	176948108	C	T	176948108	3	4	183	1	0	0	0	0	1	0	0	0	5307	768	27	2	1043	2	EVX2	2	176948108	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	4347446	176948108	66251265	6	34104										
SCN11A	11280	genome.wustl.edu	37	chr3	38924826	38924826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	cgcaggttccaccaaatgacCcagggaggctttctcttgtc	10	13	1	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:38924826C>A	ENST00000302328.3	-	18	3315	c.3117G>T	c.(3115-3117)tgG>tgT	p.W1039C	SCN11A_ENST00000456224.3_Missense_Mutation_p.W1001C|SCN11A_ENST00000444237.2_Missense_Mutation_p.W1039C|SCN11A_ENST00000450244.1_Missense_Mutation_p.W1039C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1039					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCAAATGACCCAGGGAGGCT	0.453																																																	0													107	100	102					3																	38924826		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3117G>T	3.37:g.38924826C>A	ENSP00000307599:p.Trp1039Cys		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.W1039C	ENST00000302328.3	37	c.3117	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776617	0.31411	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.57	2.62	0.31277	Sodium ion transport-associated (1);	0.117107	0.64402	N	0.000018	T	0.79185	0.4403	L	0.58810	1.83	0.47341	D	0.999393	B	0.18461	0.028	B	0.19666	0.026	T	0.76727	-0.2853	10	0.72032	D	0.01	.	4.7054	0.12848	0.1365:0.3709:0.4091:0.0835	.	1039	Q9UI33	SCNBA_HUMAN	C	1039;1039;1001;1039	ENSP00000307599:W1039C;ENSP00000400945:W1039C;ENSP00000416757:W1001C;ENSP00000408028:W1039C	ENSP00000307599:W1039C	W	-	3	0	SCN11A	38899830	0.009000	0.17119	0.921000	0.36526	0.552000	0.35366	0.134000	0.15932	1.469000	0.48083	-0.211000	0.12701	TGG	SCN11A	-	pfam_Na_trans_assoc		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38924826	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	0.023	A	A	38924826	C	A	38924826	3	1	183	1	0	0	0	0	1	0	0	0	13943	624	22	4	2294	4	SCN11A	3	38924826	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09		38924826	159097604	7	34105										
STAB1	23166	genome.wustl.edu	37	chr3	52552812	52552812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	ggttggctgtcggcggctgcGgagcgaggacctgctggagc	20	10	0	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:52552812G>A	ENST00000321725.6	+	48	5037	c.4961G>A	c.(4960-4962)cGg>cAg	p.R1654Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1654	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGCGGCTGCGGAGCGAGGAC	0.701																																																	0													27	32	31					3																	52552812		2201	4297	6498	SO:0001583	missense	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4961G>A	3.37:g.52552812G>A	ENSP00000312946:p.Arg1654Gln		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1654Q	ENST00000321725.6	37	c.4961	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	9.022	0.985075	0.18889	.	.	ENSG00000010327	ENST00000321725	D	0.90385	-2.66	5.26	0.776	0.18532	FAS1 domain (5);	1.779270	0.02662	N	0.107612	D	0.83110	0.5183	N	0.21508	0.67	0.09310	N	1	B	0.18310	0.027	B	0.15052	0.012	T	0.68161	-0.5482	10	0.35671	T	0.21	.	3.944	0.09339	0.4194:0.0:0.3398:0.2407	.	1654	Q9NY15	STAB1_HUMAN	Q	1654	ENSP00000312946:R1654Q	ENSP00000312946:R1654Q	R	+	2	0	STAB1	52527852	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.158000	0.10070	0.190000	0.20209	-0.140000	0.14226	CGG	STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.701	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136		52552812	1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.000	A	A	52552812	G	A	52552812	3	1	183	1	0	0	0	0	1	0	0	0	15267	1116	39	2	5151	2	STAB1	3	52552812	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	13627986	52552812	145469618	8	34106										
TRH	7200	genome.wustl.edu	37	chr3	129694732	129694732	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gtgtccccggcggccgtgctCagccagaggcggcccagcag	16	16	1	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:129694732C>T	ENST00000302649.3	+	2	600	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	TRH_ENST00000507066.1_Nonsense_Mutation_p.Q25*	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	25					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CGGCCGTGCTCAGCCAGAGGC	0.692																																					Esophageal Squamous(60;321 1330 17401 41911)												0													14	16	15					3																	129694732		2167	4208	6375	SO:0001587	stop_gained	7200				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.73C>T	3.37:g.129694732C>T	ENSP00000303452:p.Gln25*		B2R8R1|Q2TB83	Nonsense_Mutation	SNP	pfam_TRH,pirsf_TRH	p.Q25*	ENST00000302649.3	37	c.73	CCDS3066.1	3	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209833	0.58343	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	.	.	.	3.98	2.09	0.27110	.	0.935512	0.09004	N	0.862528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.2419	4.8984	0.13762	0.0:0.6552:0.22:0.1247	.	.	.	.	X	25	.	ENSP00000303452:Q25X	Q	+	1	0	TRH	131177422	0.519000	0.26242	0.115000	0.21578	0.319000	0.28217	1.534000	0.36051	0.412000	0.25729	0.484000	0.47621	CAG	TRH	-	pfam_TRH,pirsf_TRH		0.692	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRH	HGNC	protein_coding	OTTHUMT00000356592.1	C	NM_007117		129694732	1	no_errors	ENST00000302649	ensembl	human	known	70_37	nonsense	SNP	0.034	T	T	129694732	C	T	129694732	4	4	183	1	0	0	0	0	0	1	0	0	16509	827	29	1	75	1	TRH	3	129694732	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	77141920	129694732	68327698	9	34107										
SI	6476	genome.wustl.edu	37	chr3	164735793	164735793	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	tgagtaagaaaacaccatgaGcattgccctcctcttccaga	7	12	1	4			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:164735793G>T	ENST00000264382.3	-	29	3547	c.3485C>A	c.(3484-3486)gCt>gAt	p.A1162D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1162	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			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)|Scopolamine(DB00747)	AACACCATGAGCATTGCCCTC	0.323										HNSCC(35;0.089)																																							0													108	107	108					3																	164735793		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3485C>A	3.37:g.164735793G>T	ENSP00000264382:p.Ala1162Asp		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.A1162D	ENST00000264382.3	37	c.3485	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864648	0.51482	.	.	ENSG00000090402	ENST00000264382	D	0.91407	-2.84	5.17	5.17	0.71159	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.97185	0.9080	H	0.96691	3.865	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98266	1.0501	10	0.87932	D	0	.	18.864	0.92283	0.0:0.0:1.0:0.0	.	1162	P14410	SUIS_HUMAN	D	1162	ENSP00000264382:A1162D	ENSP00000264382:A1162D	A	-	2	0	SI	166218487	1.000000	0.71417	0.920000	0.36463	0.108000	0.19459	8.511000	0.90535	2.689000	0.91719	0.491000	0.48974	GCT	SI	-	superfamily_Glyco_hydro-type_carb-bd		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164735793	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	1.000	T	T	164735793	G	T	164735793	3	4	183	1	0	0	0	0	1	0	0	0	14327	971	34	4	2078	4	SI	3	164735793	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	35041061	164735793	33286637	10	34108										
PIK3CA	5290	genome.wustl.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	tttatgtaattttattaaagGttttgctatcggcatgccag	8	5	0	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	26	Substitution - Missense(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)											93	87	89					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A			Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G118D	ENST00000263967.3	37	c.353	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT	PIK3CA	-	NULL		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G		Missense_Mutation	178917478	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178917478	G	A	178917478	5	1	183	1	0	0	0	0	0	0	1	0	11937	1275	44	4	359	4	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	14181685	178917478	19104952	11	34109										
CLINT1	9685	genome.wustl.edu	37	chr5	157232884	157232884	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	ccattcccaccttaactgaaGactgaggtgtgtgggttgaa	11	9	0	4			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr5:157232884G>C	ENST00000411809.2	-	7	1136	c.932C>G	c.(931-933)tCt>tGt	p.S311C	CLINT1_ENST00000523908.1_Missense_Mutation_p.S311C|CLINT1_ENST00000523094.1_Missense_Mutation_p.S293C|CLINT1_ENST00000530742.1_Missense_Mutation_p.S293C|CLINT1_ENST00000296951.5_Missense_Mutation_p.S293C	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	311					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTAACTGAAGACTGAGGTGT	0.423																																					Colon(22;427 587 2170 6147 14291)												0													187	180	182					5																	157232884		2025	4178	6203	SO:0001583	missense	9685			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.932C>G	5.37:g.157232884G>C	ENSP00000388340:p.Ser311Cys		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.S293C	ENST00000411809.2	37	c.878	CCDS47330.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158785	0.78226	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.49432	0.78;0.78;0.81;0.78;0.78	5.76	4.89	0.63831	.	0.766887	0.13519	N	0.381877	T	0.50718	0.1632	L	0.52573	1.65	0.45662	D	0.998586	P;D	0.57257	0.943;0.979	P;P	0.46975	0.479;0.533	T	0.51996	-0.8634	10	0.56958	D	0.05	-24.9759	14.8976	0.70654	0.0689:0.0:0.9311:0.0	.	311;311	B7Z6F8;Q14677	.;EPN4_HUMAN	C	293;293;311;293;311	ENSP00000429345:S293C;ENSP00000433419:S293C;ENSP00000388340:S311C;ENSP00000296951:S293C;ENSP00000429824:S311C	ENSP00000296951:S293C	S	-	2	0	CLINT1	157165462	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.625000	0.54238	1.439000	0.47511	0.650000	0.86243	TCT	CLINT1	-	NULL		0.423	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1	G	NM_014666		157232884	-1	no_errors	ENST00000296951	ensembl	human	known	70_37	missense	SNP	1.000	C	C	157232884	G	C	157232884	3	2	183	1	0	0	0	0	1	0	0	0	3536	942	33	1	969	1	CLINT1	5	157232884	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09		157232884	23682376	12	34110										
SNX14	57231	genome.wustl.edu	37	chr6	86235932	86235932	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gccagaagttgactattactCagttctggatgctgcagaag	11	8	2	3			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr6:86235932C>A	ENST00000314673.3	-	21	2195	c.2019G>T	c.(2017-2019)ctG>ctT	p.L673L	SNX14_ENST00000346348.3_Silent_p.L620L|SNX14_ENST00000369627.2_Silent_p.L664L|SNX14_ENST00000505648.1_Silent_p.L621L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	673	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GACTATTACTCAGTTCTGGAT	0.338																																																	0													38	38	38					6																	86235932		2202	4300	6502	SO:0001819	synonymous_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2019G>T	6.37:g.86235932C>A			B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.L673	ENST00000314673.3	37	c.2019	CCDS5004.1	6																																																																																			SNX14	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.338	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	C	NM_153816		86235932	-1	no_errors	ENST00000314673	ensembl	human	known	70_37	silent	SNP	1.000	A	A	86235932	C	A	86235932	2	1	183	1	0	0	0	0	0	0	0	1	14915	813	29	3		3	SNX14	6	86235932	Silent	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09		86235932	84879135	13	34111										
T	6862	genome.wustl.edu	37	chr6	166571847	166571847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	tgtccatgaggctatgaggcGgccttgggctgcggcgtcgt	17	10	0	2			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr6:166571847G>A	ENST00000296946.2	-	9	1732	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	T_ENST00000366871.3_Missense_Mutation_p.R364C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	422					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCTATGAGGCGGCCTTGGGCT	0.637									Chordoma, Familial Clustering of																																								0													123	128	126					6																	166571847		2203	4300	6503	SO:0001583	missense	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1264C>T	6.37:g.166571847G>A	ENSP00000296946:p.Arg422Cys		E7ERD6|Q4KMP4	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box	p.R422C	ENST00000296946.2	37	c.1264	CCDS5290.1	6	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312748	0.40895	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.84873	-1.91;-1.91	4.64	4.64	0.57946	.	0.064020	0.64402	D	0.000014	D	0.83454	0.5258	M	0.78049	2.395	0.50467	D	0.999877	D;D;D	0.67145	0.996;0.986;0.996	P;P;P	0.48815	0.591;0.487;0.487	D	0.84515	0.0624	10	0.45353	T	0.12	.	11.7244	0.51702	0.0:0.0:0.7006:0.2994	.	364;422;364	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	C	422;422;364	ENSP00000296946:R422C;ENSP00000355836:R364C	ENSP00000296946:R422C	R	-	1	0	T	166491837	0.994000	0.37717	0.973000	0.42090	0.120000	0.20174	1.921000	0.40035	2.264000	0.75181	0.655000	0.94253	CGC	T	-	NULL		0.637	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	G	NM_003181		166571847	-1	no_errors	ENST00000296946	ensembl	human	known	70_37	missense	SNP	0.893	A	A	166571847	G	A	166571847	3	1	183	1	0	0	0	0	1	0	0	0	15518	1116	39	2	47	2	T	6	166571847	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	80335915	166571847	4543220	14	34112										
ZNF479	90827	genome.wustl.edu	37	chr7	57188264	57188264	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	ccagtatgaattctcttgtgGttagtaagtgctgaggagcg	13	6	1	2			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr7:57188264G>T	ENST00000331162.4	-	5	1128	c.858C>A	c.(856-858)aaC>aaA	p.N286K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTCTTGTGGTTAGTAAGTG	0.448																																																	0													31	32	31					7																	57188264		2052	4213	6265	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.858C>A	7.37:g.57188264G>T	ENSP00000333776:p.Asn286Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N286K	ENST00000331162.4	37	c.858	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.891667	0.00060	.	.	ENSG00000185177	ENST00000331162	T	0.15017	2.46	1.01	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.11313	0.125	0.09310	N	1	B	0.11235	0.004	B	0.17722	0.019	T	0.41378	-0.9512	9	0.02654	T	1	.	5.6745	0.17741	0.0:0.0:0.5772:0.4227	.	286	Q96JC4	ZN479_HUMAN	K	286	ENSP00000333776:N286K	ENSP00000333776:N286K	N	-	3	2	ZNF479	57192206	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	-7.591000	0.00033	-0.530000	0.06349	-0.538000	0.04264	AAC	ZNF479	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	G	XM_291202		57188264	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	missense	SNP	0.017	T	T	57188264	G	T	57188264	3	4	183	1	0	0	0	0	1	0	0	0	17963	1252	44	4	720	4	ZNF479	7	57188264	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09		57188264	101950399	15	34113										
PARP12	64761	genome.wustl.edu	37	chr7	139734130	139734130	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	accaggtttttctgaacgaaGgctgaaaaaaaacataacca	7	8	1	2			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr7:139734130G>T	ENST00000263549.3	-	8	2199	c.1326C>A	c.(1324-1326)gcC>gcA	p.A442A	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	442	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TCTGAACGAAGGCTGAAAAAA	0.383																																																	0													51	48	49					7																	139734130		2203	4300	6503	SO:0001630	splice_region_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1325-1C>A	7.37:g.139734130G>T			Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom	p.P395H	ENST00000263549.3	37	c.1184	CCDS5857.1	7																																																																																			PARP12	-	NULL		0.383	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	HGNC	protein_coding	OTTHUMT00000348413.1	G	NM_022750	Silent	139734130	-1	no_errors	ENST00000473341	ensembl	human	known	70_37	missense	SNP	0.278	T	T	139734130	G	T	139734130	5	4	183	1	0	0	0	0	0	0	1	0	11481	1014	35	4	799	4	PARP12	7	139734130	Splice_Site	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	82545866	139734130	19404533	16	34114										
DLC1	10395	genome.wustl.edu	37	chr8	12948839	12948839	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	ttccttacctggaaaagcttCttgcactcggcgatcatatg	8	11	2	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr8:12948839C>T	ENST00000276297.4	-	14	4252	c.3843G>A	c.(3841-3843)aaG>aaA	p.K1281K	DLC1_ENST00000358919.2_Silent_p.K844K|DLC1_ENST00000512044.2_Silent_p.K878K|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.K770K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1281	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGAAAAGCTTCTTGCACTCGG	0.408																																																	0													113	113	113					8																	12948839		2203	4300	6503	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3843G>A	8.37:g.12948839C>T			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.K1281	ENST00000276297.4	37	c.3843	CCDS5989.1	8																																																																																			DLC1	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.408	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094		12948839	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	1.000	T	T	12948839	C	T	12948839	2	4	183	1	0	0	0	0	0	0	0	1	4560	912	32	1		1	DLC1	8	12948839	Silent	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09		12948839	133415183	17	34115										
WDR67	93594	genome.wustl.edu	37	chr8	124140520	124140521	+	Splice_Site	INS	-	-	T													0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	aacaccaagttttcttacagINStttttttttcaccatcggaa					rs570441854		TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																																	0									,	6,4258		0,6,2126					,	5.7	1			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT			B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Frame_Shift_Ins	INS	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.H632fs	ENST00000287380.1	37	c.1886_1885	CCDS6338.1	8																																																																																			WDR67	-	superfamily_Rab-GTPase-TBC_dom		0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	-	NM_145647	Intron	124140521	1	no_errors	ENST00000287380	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T	T	124140521	-	T	124140520	8	5	183	1	0	1	1	0	0	0	1	0	17349	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-Q1-A6DV-01A-11D-A32I-09	111191681	124140520	22223502	18	34116										
ABCC2	1244	genome.wustl.edu	37	chr10	101557086	101557086	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	aaagccaagatgcccttgtcCtggtaactttcccttgagtg	9	11	0	2			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr10:101557086C>A	ENST00000370449.4	+	7	978	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	ABCC2_ENST00000370434.1_Missense_Mutation_p.L289M	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	289					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGCCCTTGTCCTGGTAACTTT	0.517																																																	0													50	35	40					10																	101557086		2202	4300	6502	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.865C>A	10.37:g.101557086C>A	ENSP00000359478:p.Leu289Met		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L289M	ENST00000370449.4	37	c.865	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300318	0.40694	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	D;T	0.89746	-2.56;3.43	5.61	4.6	0.57074	.	0.104089	0.64402	D	0.000009	T	0.81044	0.4741	L	0.43646	1.37	0.35513	D	0.800791	P	0.39759	0.687	B	0.34242	0.178	T	0.82047	-0.0651	10	0.29301	T	0.29	-1.0608	7.8907	0.29675	0.1608:0.7332:0.0:0.106	.	289	Q92887	MRP2_HUMAN	M	289	ENSP00000359478:L289M;ENSP00000359463:L289M	ENSP00000359463:L289M	L	+	1	2	ABCC2	101547076	0.952000	0.32445	1.000000	0.80357	0.914000	0.54420	0.510000	0.22723	2.635000	0.89317	0.555000	0.69702	CTG	ABCC2	-	tigrfam_Multidrug-R_assoc		0.517	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	C	NM_000392		101557086	1	no_errors	ENST00000370449	ensembl	human	known	70_37	missense	SNP	0.997	A	A	101557086	C	A	101557086	3	1	183	1	0	0	0	0	1	0	0	0	53	680	24	4	891	4	ABCC2	10	101557086	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09		101557086	33977661	19	34117										
PRDM10	56980	genome.wustl.edu	37	chr11	129788548	129788548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	ttggagcggctgatgcggtcGgctttcttggcctccctctc	13	13	2	1	rs144671187	byFrequency	TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr11:129788548G>A	ENST00000360871.3	-	14	2331	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A	PRDM10_ENST00000526082.1_Silent_p.A618A|PRDM10_ENST00000423662.2_Silent_p.A618A|PRDM10_ENST00000358825.5_Silent_p.A704A|PRDM10_ENST00000304538.6_Silent_p.A614A|PRDM10_ENST00000528746.1_Silent_p.A674A	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	704					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGATGCGGTCGGCTTTCTTGG	0.532																																																	0								G	,,,	1,4401	2.1+/-5.4	0,1,2200	254	234	241		2112,2100,1854,1842	-10.1	0.5	11	dbSNP_134	241	5,8589	4.3+/-15.6	0,5,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	0,6,6492	AA,AG,GG		0.0582,0.0227,0.0462	,,,	704/1161,700/1157,618/1062,614/1024	129788548	6,12990	2201	4297	6498	SO:0001819	synonymous_variant	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2100C>T	11.37:g.129788548G>A			B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A704	ENST00000360871.3	37	c.2112	CCDS8484.1	11																																																																																			PRDM10	-	NULL		0.532	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	G	NM_199437		129788548	-1	no_errors	ENST00000358825	ensembl	human	known	70_37	silent	SNP	0.019	A	A	129788548	G	A	129788548	2	1	183	1	0	0	0	0	0	0	0	1	12478	1103	39	2		2	PRDM10	11	129788548	Silent	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09		129788548	5217968	20	34118										
GLIPR1	11010	genome.wustl.edu	37	chr12	75874739	75874739	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	acacagcaaatattttgccaGatatcgaaaatgaagatttc	6	7	0	3			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr12:75874739G>A	ENST00000266659.3	+	1	280	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	27					cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TATTTTGCCAGATATCGAAAA	0.413																																																	0													92	87	89					12																	75874739		2203	4300	6503	SO:0001583	missense	11010			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.79G>A	12.37:g.75874739G>A	ENSP00000266659:p.Asp27Asn		A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.D27N	ENST00000266659.3	37	c.79	CCDS9011.1	12	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459683	0.63401	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.10860	3.19;2.83	6.03	2.78	0.32641	CAP domain (1);	0.468665	0.25397	N	0.030974	T	0.11281	0.0275	L	0.59436	1.845	0.32534	N	0.534504	B;B	0.32939	0.391;0.379	B;B	0.32624	0.101;0.149	T	0.11690	-1.0577	10	0.19590	T	0.45	.	11.3366	0.49507	0.2238:0.0:0.7762:0.0	.	27;27	F6VVE8;P48060	.;GLIP1_HUMAN	N	27	ENSP00000266659:D27N;ENSP00000391144:D27N	ENSP00000266659:D27N	D	+	1	0	GLIPR1	74161006	1.000000	0.71417	0.917000	0.36280	0.639000	0.38242	4.646000	0.61411	0.861000	0.35504	0.655000	0.94253	GAT	GLIPR1	-	superfamily_CAP_domain		0.413	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1	G	NM_006851		75874739	1	no_errors	ENST00000266659	ensembl	human	known	70_37	missense	SNP	0.822	A	A	75874739	G	A	75874739	3	1	183	1	0	0	0	0	1	0	0	0	6460	942	33	1	81	1	GLIPR1	12	75874739	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09		75874739	57977156	21	34119										
MYH6	4624	genome.wustl.edu	37	chr14	23866005	23866005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	aactgtccctcagggatggcCactgggttcaggatgcgata	13	10	2	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr14:23866005C>T	ENST00000356287.3	-	18	2219	c.2190G>A	c.(2188-2190)gtG>gtA	p.V730V	MYH6_ENST00000405093.3_Silent_p.V730V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	730	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAGGGATGGCCACTGGGTTCA	0.542																																																	0													107	85	92					14																	23866005		2203	4300	6503	SO:0001819	synonymous_variant	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2190G>A	14.37:g.23866005C>T			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V730	ENST00000356287.3	37	c.2190	CCDS9600.1	14																																																																																			MYH6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C			23866005	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	silent	SNP	0.369	T	T	23866005	C	T	23866005	2	4	183	1	0	0	0	0	0	0	0	1	10061	581	21	4		4	MYH6	14	23866005	Silent	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09		23866005	83483535	22	34120										
EML5	161436	genome.wustl.edu	37	chr14	89130940	89130940	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	atatctataaagctgtcatgGgatgctacagcaagatattt	8	6	2	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr14:89130940G>T	ENST00000380664.5	-	23	3305	c.3306C>A	c.(3304-3306)tcC>tcA	p.S1102S	EML5_ENST00000554922.1_Silent_p.S1102S|EML5_ENST00000352093.5_Silent_p.S1064S			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1102						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGCTGTCATGGGATGCTACAG	0.328																																																	0													90	87	88					14																	89130940		1807	4073	5880	SO:0001819	synonymous_variant	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3306C>A	14.37:g.89130940G>T			B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1102	ENST00000380664.5	37	c.3306	CCDS45148.1	14																																																																																			EML5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.328	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	G			89130940	-1	no_errors	ENST00000554922	ensembl	human	known	70_37	silent	SNP	0.994	T	T	89130940	G	T	89130940	2	4	183	1	0	0	0	0	0	0	0	1	5112	1219	43	4		4	EML5	14	89130940	Silent	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	65264935	89130940	18218600	23	34121										
HERC1	8925	genome.wustl.edu	37	chr15	63972276	63972276	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	aaggtttgagacttcattacCttttcccctggattgctact	7	10	1	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr15:63972276C>A	ENST00000443617.2	-	36	6636	c.6549G>T	c.(6547-6549)aaG>aaT	p.K2183N	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2183	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTTCATTACCTTTTCCCCTG	0.343																																																	0													93	87	88					15																	63972276		1842	4077	5919	SO:0001630	splice_region_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6549+1G>T	15.37:g.63972276C>A			Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.K2183N	ENST00000443617.2	37	c.6549	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042681	0.93685	.	.	ENSG00000103657	ENST00000443617	T	0.70516	-0.49	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79804	-0.1649	9	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	2183	Q15751	HERC1_HUMAN	N	2183	ENSP00000390158:K2183N	.	K	-	3	2	HERC1	61759329	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.049000	0.71053	2.873000	0.98535	0.563000	0.77884	AAG	HERC1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.343	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922	Missense_Mutation	63972276	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63972276	C	A	63972276	5	1	183	1	0	0	0	0	0	0	1	0	7077	695	24	4	8208	4	HERC1	15	63972276	Splice_Site	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09		63972276	38559116	24	34122										
CREBBP	1387	genome.wustl.edu	37	chr16	3799625	3799626	+	Intron	INS	-	-	A													0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	aaagaaatagctatatacttINSacggttcggggtctaaggta							TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr16:3799625_3799626insA	ENST00000262367.5	-	21	4646				CREBBP_ENST00000382070.3_Intron	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein						cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTATATACTTACGGTTCGGGG	0.297			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0																																										SO:0001627	intron_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3836+1->T	16.37:g.3799626_3799626dupA			D3DUC9|O00147|Q16376|Q4LE28	Splice_Site	INS	-	e21+2	ENST00000262367.5	37	c.3836+2_3836+1	CCDS10509.1	16																																																																																			CREBBP	-	-		0.297	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	NM_004380		3799626	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	splice_site_ins	INS	1.000:1.000	A	A	3799626	-	A	3799625	6	5	183	0	1	1	1	0	0	0	0	0	3866	1769	61	0		0	CREBBP	16	3799625	Intron	INS	-	TCGA-Q1-A6DV-01A-11D-A32I-09		3799625	86555128	25	34123										
BRD7	29117	genome.wustl.edu	37	chr16	50360205	50360205	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	ggagcctcacctggagtgacTttgttccttttatcctcttt	8	11	2	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr16:50360205T>G	ENST00000394688.3	-	10	1344	c.1185A>C	c.(1183-1185)aaA>aaC	p.K395N	BRD7_ENST00000394689.2_Missense_Mutation_p.K395N			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	395					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CTGGAGTGACTTTGTTCCTTT	0.453																																																	0													71	69	70					16																	50360205		2198	4300	6498	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1185A>C	16.37:g.50360205T>G	ENSP00000378180:p.Lys395Asn		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K395N	ENST00000394688.3	37	c.1185	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645368	0.47258	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.51071	0.72;0.72	5.2	4.08	0.47627	.	0.245346	0.47093	D	0.000249	T	0.48484	0.1502	M	0.71581	2.175	0.36622	D	0.8758	B;B	0.32653	0.379;0.328	B;B	0.39094	0.29;0.191	T	0.53788	-0.8389	10	0.40728	T	0.16	0.6422	7.8322	0.29349	0.0:0.2434:0.0:0.7566	.	395;395	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	N	395	ENSP00000378180:K395N;ENSP00000378181:K395N	ENSP00000378180:K395N	K	-	3	2	BRD7	48917706	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	0.989000	0.29629	0.899000	0.36444	0.533000	0.62120	AAA	BRD7	-	pfam_DUF3512		0.453	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3	T	NM_013263		50360205	-1	no_errors	ENST00000394689	ensembl	human	known	70_37	missense	SNP	0.999	G	G	50360205	T	G	50360205	3	3	183	1	0	0	0	0	1	0	0	0	1508	1606	56	5	805	5	BRD7	16	50360205	Missense_Mutation	SNP	T	TCGA-Q1-A6DV-01A-11D-A32I-09	46560580	50360205	39994548	26	34124										
C16orf86	388284	genome.wustl.edu	37	chr16	67700945	67700945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gtggggcagggacagctcacGgaggagcccggcagcgctca	18	12	2	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr16:67700945G>A	ENST00000403458.4	+	1	227	c.72G>A	c.(70-72)acG>acA	p.T24T	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|C16orf86_ENST00000602974.1_3'UTR	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	24										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GACAGCTCACGGAGGAGCCCG	0.697																																																	0													4	7	6					16																	67700945		1873	3977	5850	SO:0001819	synonymous_variant	388284				CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.72G>A	16.37:g.67700945G>A			B5MCW6	Silent	SNP	NULL	p.T24	ENST00000403458.4	37	c.72	CCDS32468.2	16																																																																																			C16orf86	-	NULL		0.697	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf86	HGNC	protein_coding	OTTHUMT00000318767.2	G	NM_001012984		67700945	1	no_errors	ENST00000403458	ensembl	human	known	70_37	silent	SNP	0.000	A	A	67700945	G	A	67700945	2	1	183	1	0	0	0	0	0	0	0	1	1843	1103	39	2		2	C16orf86	16	67700945	Silent	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	17340740	67700945	22653808	27	34125										
TCF25	22980	genome.wustl.edu	37	chr16	89954104	89954104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gaaaaggtattttggtgcccGggcaatcctgggggagcaaa	15	7	0	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr16:89954104G>A	ENST00000263346.8	+	5	649	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	TCF25_ENST00000263347.7_5'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	198					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTTGGTGCCCGGGCAATCCTG	0.458																																																	0													59	63	62					16																	89954104		2198	4300	6498	SO:0001583	missense	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.593G>A	16.37:g.89954104G>A	ENSP00000263346:p.Arg198Gln		Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.R198Q	ENST00000263346.8	37	c.593	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962264	0.92791	.	.	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	5.69	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	L	0.55213	1.73	0.80722	D	1	D	0.69078	0.997	P	0.57720	0.826	T	0.69599	-0.5102	9	0.66056	D	0.02	.	13.1363	0.59411	0.0777:0.0:0.9223:0.0	.	198	Q9BQ70	TCF25_HUMAN	Q	198	.	ENSP00000263346:R198Q	R	+	2	0	TCF25	88481605	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	8.237000	0.89807	1.402000	0.46780	0.650000	0.86243	CGG	TCF25	-	NULL		0.458	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89954104	1	no_errors	ENST00000263346	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89954104	G	A	89954104	3	1	183	1	0	0	0	0	1	0	0	0	15723	1116	39	2	611	2	TCF25	16	89954104	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	22253159	89954104	400649	28	34126										
ABR	29	genome.wustl.edu	37	chr17	1028642	1028642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gcatggtctctgagccctccGggggccccttctgctcctca	11	17	3	1	rs573239507		TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:1028642G>A	ENST00000302538.5	-	2	268	c.122C>T	c.(121-123)cCg>cTg	p.P41L	ABR_ENST00000574437.1_5'UTR|ABR_ENST00000544583.2_5'UTR	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	41					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P41fs*51(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGAGCCCTCCGGGGGCCCCTT	0.642													G|||	1	0.000199681	0	0	5008	,	,		12140	0.001		0	False		,,,				2504	0				Esophageal Squamous(197;2016 2115 4129 29033 46447)												1	Deletion - Frameshift(1)	lung(1)											123	112	116					17																	1028642		2203	4300	6503	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.122C>T	17.37:g.1028642G>A	ENSP00000303909:p.Pro41Leu		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.P41L	ENST00000302538.5	37	c.122	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866848	0.51588	.	.	ENSG00000159842	ENST00000302538	T	0.18960	2.18	5.36	5.36	0.76844	.	0.208574	0.43919	D	0.000509	T	0.12944	0.0314	N	0.22421	0.69	0.80722	D	1	P	0.34955	0.477	B	0.21708	0.036	T	0.05451	-1.0884	10	0.54805	T	0.06	.	12.3384	0.55081	0.0:0.1702:0.8298:0.0	.	41	Q12979	ABR_HUMAN	L	41	ENSP00000303909:P41L	ENSP00000303909:P41L	P	-	2	0	ABR	975392	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	5.009000	0.63998	2.509000	0.84616	0.561000	0.74099	CCG	ABR	-	NULL		0.642	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	G			1028642	-1	no_errors	ENST00000302538	ensembl	human	known	70_37	missense	SNP	0.986	A	A	1028642	G	A	1028642	3	1	183	1	0	0	0	0	1	0	0	0	99	1116	39	2	2684	2	ABR	17	1028642	Missense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09		1028642	80166568	29	34127										
ITGAE	3682	genome.wustl.edu	37	chr17	3656605	3656605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	tgctcgctgagacggtacacGtagactctgccttcttctcc	9	14	3	2			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:3656605G>A	ENST00000263087.4	-	14	1745	c.1647C>T	c.(1645-1647)taC>taT	p.Y549Y		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	549					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GACGGTACACGTAGACTCTGC	0.557																																					NSCLC(182;635 2928 8995 38788)												0													158	125	136					17																	3656605		2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1647C>T	17.37:g.3656605G>A			Q17RS6|Q9NZU9	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.Y549	ENST00000263087.4	37	c.1647	CCDS32531.1	17																																																																																			ITGAE	-	smart_Int_alpha_beta-p		0.557	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	G	NM_002208		3656605	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	silent	SNP	0.109	A	A	3656605	G	A	3656605	2	1	183	1	0	0	0	0	0	0	0	1	7905	1140	40	2		2	ITGAE	17	3656605	Silent	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	2627963	3656605	77538605	30	34128										
USP43	124739	genome.wustl.edu	37	chr17	9604465	9604465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gagcctccaggaggagcgagCgcaggatgccgacagtgtgt	17	10	0	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:9604465C>T	ENST00000285199.7	+	11	1661	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	USP43_ENST00000570475.1_Missense_Mutation_p.A522V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	522	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAGGAGCGAGCGCAGGATGCC	0.582																																																	0													13	18	17					17																	9604465		2140	4252	6392	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1565C>T	17.37:g.9604465C>T	ENSP00000285199:p.Ala522Val		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.A522V	ENST00000285199.7	37	c.1565	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	2.006	-0.428299	0.04701	.	.	ENSG00000154914	ENST00000285199	T	0.06294	3.32	4.98	3.9	0.45041	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.588860	0.16308	N	0.220140	T	0.01421	0.0046	N	0.00337	-1.62	0.28175	N	0.92839	B;B;B	0.12630	0.006;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.002	T	0.41179	-0.9523	10	0.05721	T	0.95	-12.2301	7.2279	0.26026	0.0:0.1156:0.0:0.8844	.	522;211;522	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	V	522	ENSP00000285199:A522V	ENSP00000285199:A522V	A	+	2	0	USP43	9545190	1.000000	0.71417	0.965000	0.40720	0.361000	0.29550	5.782000	0.68973	0.768000	0.33290	0.563000	0.77884	GCG	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.582	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9604465	1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	0.980	T	T	9604465	C	T	9604465	3	4	183	1	0	0	0	0	1	0	0	0	17105	768	27	2	1607	2	USP43	17	9604465	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	5947860	9604465	71590745	31	34129										
ANKFN1	162282	genome.wustl.edu	37	chr17	54526549	54526549	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	cagcattacagttgccggggTaaggataaaaatctgtgctg	12	7	1	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:54526549T>C	ENST00000318698.2	+	10	1251		c.e10+2		ANKFN1_ENST00000566473.2_Splice_Site	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1											NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTTGCCGGGGTAAGGATAAAA	0.512																																																	0													74	71	72					17																	54526549		2203	4300	6503	SO:0001630	splice_region_variant	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1216+2T>C	17.37:g.54526549T>C				Splice_Site	SNP	-	e10+2	ENST00000318698.2	37	c.1216+2	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983662	0.74474	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1629	0.72798	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKFN1	51881548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.201000	0.77847	1.992000	0.58205	0.533000	0.62120	.	ANKFN1	-	-		0.512	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	T	NM_153228	Intron	54526549	1	no_errors	ENST00000318698	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	54526549	T	C	54526549	5	2	183	1	0	0	0	0	0	0	1	0	625	1652	57	5	1256	5	ANKFN1	17	54526549	Splice_Site	SNP	T	TCGA-Q1-A6DV-01A-11D-A32I-09	44922084	54526549	26668661	32	34130										
SCN4A	6329	genome.wustl.edu	37	chr17	62041962	62041962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	caccacggccaggatcagatTgatgaggtagaaagagccca	12	10	1	5			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:62041962T>C	ENST00000435607.1	-	9	1394	c.1318A>G	c.(1318-1320)Aat>Gat	p.N440D	SCN4A_ENST00000578147.1_Missense_Mutation_p.N440D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	440					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGATCAGATTGATGAGGTAG	0.552																																																	0													75	74	75					17																	62041962		1997	4190	6187	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1318A>G	17.37:g.62041962T>C	ENSP00000396320:p.Asn440Asp		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.N440D	ENST00000435607.1	37	c.1318	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	t	26.8	4.769633	0.90020	.	.	ENSG00000007314	ENST00000435607	D	0.99287	-5.69	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.98426	4.23	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	D	0.97397	0.9993	10	0.87932	D	0	.	13.859	0.63548	0.0:0.0:0.0:1.0	.	440	P35499	SCN4A_HUMAN	D	440	ENSP00000396320:N440D	ENSP00000396320:N440D	N	-	1	0	SCN4A	59395694	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.862000	0.87013	2.049000	0.60858	0.375000	0.23000	AAT	SCN4A	-	pfam_Ion_trans_dom		0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		T	NM_000334		62041962	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62041962	T	C	62041962	3	2	183	1	0	0	0	0	1	0	0	0	13950	1812	63	5	4256	5	SCN4A	17	62041962	Missense_Mutation	SNP	T	TCGA-Q1-A6DV-01A-11D-A32I-09	7515413	62041962	19153248	33	34131										
ABCA6	23460	genome.wustl.edu	37	chr17	67108351	67108351	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gatatccaagaccccaccttCttttcaaaaacatagaagaa	4	11	2	3			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:67108351C>A	ENST00000284425.2	-	16	2279	c.2105G>T	c.(2104-2106)aGa>aTa	p.R702I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	702	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACCCCACCTTCTTTTCAAAAA	0.368																																																	0													157	165	162					17																	67108351		2203	4300	6503	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2105G>T	17.37:g.67108351C>A	ENSP00000284425:p.Arg702Ile		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R702I	ENST00000284425.2	37	c.2105	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288013	0.40494	.	.	ENSG00000154262	ENST00000284425	T	0.58797	0.31	4.64	3.67	0.42095	ABC transporter-like (1);	0.107977	0.40908	D	0.000996	T	0.57636	0.2067	M	0.82630	2.6	0.80722	D	1	P	0.34587	0.458	B	0.28991	0.097	T	0.67814	-0.5573	10	0.72032	D	0.01	.	12.6619	0.56820	0.0:0.9148:0.0:0.0852	.	702	Q8N139	ABCA6_HUMAN	I	702	ENSP00000284425:R702I	ENSP00000284425:R702I	R	-	2	0	ABCA6	64619946	0.942000	0.31987	1.000000	0.80357	0.674000	0.39518	0.671000	0.25172	2.563000	0.86464	0.650000	0.86243	AGA	ABCA6	-	pfscan_ABC_transporter-like		0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	C	NM_080284		67108351	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	1.000	A	A	67108351	C	A	67108351	3	1	183	1	0	0	0	0	1	0	0	0	36	913	32	3	2844	3	ABCA6	17	67108351	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	5066389	67108351	14086859	34	34132										
TRAPPC5	126003	genome.wustl.edu	37	chr19	7747433	7747433	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gccgtgtggaaggcgctcttCggcaaggaggcggacaagct	17	10	1	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr19:7747433C>T	ENST00000317378.5	+	2	481	c.294C>T	c.(292-294)ttC>ttT	p.F98F	TRAPPC5_ENST00000596148.1_Silent_p.F98F|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000426877.2_Silent_p.F98F|TRAPPC5_ENST00000595985.1_Silent_p.F31F	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	98					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						AGGCGCTCTTCGGCAAGGAGG	0.642																																																	0													34	38	37					19																	7747433		2185	4272	6457	SO:0001819	synonymous_variant	126003			BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"Trafficking protein particle complex"	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.294C>T	19.37:g.7747433C>T			A8K7I6	Silent	SNP	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31	p.F98	ENST00000317378.5	37	c.294	CCDS42490.1	19																																																																																			TRAPPC5	-	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31		0.642	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC5	HGNC	protein_coding	OTTHUMT00000461252.1	C	XM_058961		7747433	1	no_errors	ENST00000317378	ensembl	human	known	70_37	silent	SNP	0.987	T	T	7747433	C	T	7747433	2	4	183	1	0	0	0	0	0	0	0	1	16493	883	31	1		1	TRAPPC5	19	7747433	Silent	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09		7747433	51381550	35	34133										
ARHGAP35	2909	genome.wustl.edu	37	chr19	47423758	47423758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	attgggcaaagacggccttgCccgagagttggccaatgaga	14	9	0	3			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr19:47423758C>T	ENST00000404338.3	+	1	1826	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	609					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GACGGCCTTGCCCGAGAGTTG	0.448																																																	0													147	143	144					19																	47423758		1877	4106	5983	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1826C>T	19.37:g.47423758C>T	ENSP00000385720:p.Ala609Val		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A609V	ENST00000404338.3	37	c.1826	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062394	0.76187	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.12879	2.64	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.18085	-1.0348	10	0.87932	D	0	-28.6612	19.1646	0.93551	0.0:1.0:0.0:0.0	.	609	Q9NRY4-2	.	V	609	ENSP00000385720:A609V	ENSP00000324820:A609V	A	+	2	0	ARHGAP35	52115598	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.074000	0.71253	2.824000	0.97209	0.655000	0.94253	GCC	ARHGAP35	-	NULL		0.448	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	C	NM_004491		47423758	1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47423758	C	T	47423758	3	4	183	1	0	0	0	0	1	0	0	0	6815	739	26	4	1828	4	ARHGAP35	19	47423758	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	39676325	47423758	11705225	36	34134										
NLRP5	126206	genome.wustl.edu	37	chr19	56538760	56538760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	tgggctgagaagcagcctccGttcaccctcatacgcagtct	10	14	3	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr19:56538760G>A	ENST00000390649.3	+	7	1161	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	387	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGCAGCCTCCGTTCACCCTCA	0.542																																																	0													46	47	47					19																	56538760		2094	4218	6312	SO:0001819	synonymous_variant	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1161G>A	19.37:g.56538760G>A			A8MTY4|Q86W29	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P387	ENST00000390649.3	37	c.1161	CCDS12938.1	19																																																																																			NLRP5	-	pfscan_NACHT_NTPase		0.542	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	G	NM_153447		56538760	1	no_errors	ENST00000390649	ensembl	human	known	70_37	silent	SNP	0.000	A	A	56538760	G	A	56538760	2	1	183	1	0	0	0	0	0	0	0	1	10504	1132	40	2		2	NLRP5	19	56538760	Silent	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09	9115002	56538760	2590223	37	34135										
SLC27A5	10998	genome.wustl.edu	37	chr19	59022902	59022902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	ctcaccaaaggtgactgagcCggccccaggccccgtccaca	10	18	1	2			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr19:59022902C>T	ENST00000263093.2	-	1	530	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G141S	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	141					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTGACTGAGCCGGCCCCAGGC	0.697																																																	0													10	10	10					19																	59022902		2181	4261	6442	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.421G>A	19.37:g.59022902C>T	ENSP00000263093:p.Gly141Ser		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G141S	ENST00000263093.2	37	c.421	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	3.815	-0.038896	0.07497	.	.	ENSG00000083807	ENST00000263093	T	0.39592	1.07	4.18	-3.86	0.04230	.	1.879750	0.02313	N	0.072275	T	0.16557	0.0398	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.26292	-1.0107	10	0.06625	T	0.88	-1.9815	6.3451	0.21345	0.6476:0.1491:0.2034:0.0	.	141	Q9Y2P5	S27A5_HUMAN	S	141	ENSP00000263093:G141S	ENSP00000263093:G141S	G	-	1	0	SLC27A5	63714714	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.016000	0.03633	-0.558000	0.06118	-0.519000	0.04390	GGC	SLC27A5	-	NULL		0.697	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59022902	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	0.000	T	T	59022902	C	T	59022902	3	4	183	1	0	0	0	0	1	0	0	0	14559	652	23	2	1691	2	SLC27A5	19	59022902	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	2484142	59022902	106081	38	34136										
TAF4	6874	genome.wustl.edu	37	chr20	60584215	60584215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gaaatttttacatttcttcaCgttttccatagtttcctgga	5	8	2	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr20:60584215C>T	ENST00000252996.4	-	5	1776	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	593	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.V593L(1)|p.V593M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CATTTCTTCACGTTTTCCATA	0.343																																																	2	Substitution - Missense(2)	lung(1)|endometrium(1)											67	67	67					20																	60584215		2203	4300	6503	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1777G>A	20.37:g.60584215C>T	ENSP00000252996:p.Val593Met		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.V593M	ENST00000252996.4	37	c.1777	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621095	0.87460	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.52295	0.67;0.67	5.15	5.15	0.70609	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79276	-0.1870	10	0.66056	D	0.02	-17.5576	18.5942	0.91225	0.0:1.0:0.0:0.0	.	593	O00268	TAF4_HUMAN	M	593;457	ENSP00000252996:V593M;ENSP00000399091:V457M	ENSP00000252996:V593M	V	-	1	0	TAF4	60017610	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.513000	0.81739	2.385000	0.81259	0.561000	0.74099	GTG	TAF4	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1		0.343	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	C	NM_003185		60584215	-1	no_errors	ENST00000252996	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60584215	C	T	60584215	3	4	183	1	0	0	0	0	1	0	0	0	15556	536	19	2	1524	2	TAF4	20	60584215	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09		60584215	2441305	39	34137										
SLC2A11	66035	genome.wustl.edu	37	chr22	24227028	24227028	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	tggaggttatccagtcaacaGaactctagtcccaaaggggt	11	9	2	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr22:24227028G>T	ENST00000345044.6	+	12	1751	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	SLC2A11_ENST00000316185.8_Nonsense_Mutation_p.E498*|SLC2A11_ENST00000398356.2_Nonsense_Mutation_p.E502*|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	495					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CCAGTCAACAGAACTCTAGTC	0.587																																																	0													38	37	38					22																	24227028		2203	4300	6503	SO:0001587	stop_gained	66035			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"Solute carriers"	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.1483G>T	22.37:g.24227028G>T	ENSP00000342542:p.Glu495*		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.E502*	ENST00000345044.6	37	c.1504	CCDS46673.1	22	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034805	0.54896	.	.	ENSG00000133460	ENST00000345044;ENST00000398356;ENST00000316185	.	.	.	3.25	2.22	0.28083	.	0.941234	0.08919	N	0.874721	.	.	.	.	.	.	0.22366	N	0.999167	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	8.5766	0.33603	0.0:0.2367:0.7633:0.0	.	.	.	.	X	495;502;498	.	ENSP00000326748:E498X	E	+	1	0	SLC2A11	22557028	0.004000	0.15560	0.387000	0.26183	0.043000	0.13939	0.937000	0.28951	0.950000	0.37743	-0.230000	0.12252	GAA	SLC2A11	-	NULL		0.587	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A11	HGNC	protein_coding	OTTHUMT00000319889.3	G	NM_030807		24227028	1	no_errors	ENST00000398356	ensembl	human	known	70_37	nonsense	SNP	0.439	T	T	24227028	G	T	24227028	4	4	183	1	0	0	0	0	0	1	0	0	14570	943	33	3	1609	3	SLC2A11	22	24227028	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DV-01A-11D-A32I-09		24227028	27077538	40	34138										
MCM5	4174	genome.wustl.edu	37	chr22	35820213	35820213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	ggcgcggcgagatccagcatCgcatgcagcgcaaggttctc	14	13	1	1			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr22:35820213C>T	ENST00000216122.4	+	17	2324	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C	MCM5_ENST00000382011.5_Missense_Mutation_p.R681C	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	724					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GATCCAGCATCGCATGCAGCG	0.652																																																	0													40	31	34					22																	35820213		2149	4169	6318	SO:0001583	missense	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.2170C>T	22.37:g.35820213C>T	ENSP00000216122:p.Arg724Cys		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase	p.R724C	ENST00000216122.4	37	c.2170	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581407	0.65992	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.04317	3.99;3.65	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65874	0.939;0.939;0.939	T	0.09840	-1.0656	10	0.87932	D	0	-19.2195	17.438	0.87558	0.0:1.0:0.0:0.0	.	724;681;724	B1AHB0;B1AHB1;P33992	.;.;MCM5_HUMAN	C	724;681	ENSP00000216122:R724C;ENSP00000371441:R681C	ENSP00000216122:R724C	R	+	1	0	MCM5	34150213	1.000000	0.71417	0.955000	0.39395	0.385000	0.30292	3.894000	0.56250	2.337000	0.79520	0.462000	0.41574	CGC	MCM5	-	NULL		0.652	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	C			35820213	1	no_errors	ENST00000216122	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35820213	C	T	35820213	3	4	183	1	0	0	0	0	1	0	0	0	9413	884	31	1	2232	1	MCM5	22	35820213	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	11593185	35820213	15484353	41	34139										
MAGEB2	4113	genome.wustl.edu	37	chrX	30236904	30236904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	cagagagccccaaccactgcCgctgctgcggctgcgggtgt	14	15	0	1	rs370067105		TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chrX:30236904C>T	ENST00000378988.4	+	2	308	c.207C>T	c.(205-207)gcC>gcT	p.A69A		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	69										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CAACCACTGCCGCTGCTGCGG	0.562																																																	0								C		0,3811		0,0,1630,551	11	10	11		207	-0.1	0	X		11	3,6689		0,3,2423,1840	no	coding-synonymous	MAGEB2	NM_002364.4		0,3,4053,2391	TT,TC,CC,C		0.0448,0.0,0.0286		69/320	30236904	3,10500	2181	4266	6447	SO:0001819	synonymous_variant	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.207C>T	X.37:g.30236904C>T			O75860	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A69	ENST00000378988.4	37	c.207	CCDS14219.1	X																																																																																			MAGEB2	-	pfam_Melanoma_ass_antigen_N		0.562	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	HGNC	protein_coding	OTTHUMT00000056157.1	C	NM_002364		30236904	1	no_errors	ENST00000378988	ensembl	human	known	70_37	silent	SNP	0.000	T	T	30236904	C	T	30236904	2	4	183	1	0	0	0	0	0	0	0	1	9199	639	23	2		2	MAGEB2	23	30236904	Silent	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09		30236904	125033656	42	34140										
CT47B1	643311	genome.wustl.edu	37	chrX	120009305	120009305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	gctcccgccctgggggactgCggccaggcctgccgcctgct	15	18	0	0			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chrX:120009305C>T	ENST00000371311.3	-	1	474	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	74										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TGGGGGACTGCGGCCAGGCCT	0.711																																																	0													10	14	13					X																	120009305		689	1568	2257	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.220G>A	X.37:g.120009305C>T	ENSP00000360360:p.Ala74Thr		A6NM97	Missense_Mutation	SNP	NULL	p.A74T	ENST00000371311.3	37	c.220	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	C	6.060	0.379317	0.11466	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.21	-4.42	0.03579	.	.	.	.	.	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B	0.30542	0.284	B	0.26969	0.075	T	0.16808	-1.0390	8	0.29301	T	0.29	.	4.32	0.11013	0.0:0.4712:0.218:0.3109	.	74	P0C2W7	CT47B_HUMAN	T	74	.	ENSP00000360360:A74T	A	-	1	0	CT47B1	119893333	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.632000	0.02024	-1.128000	0.02922	-1.177000	0.01723	GCA	CT47B1	-	NULL		0.711	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	C	NM_001145718		120009305	-1	no_errors	ENST00000371311	ensembl	human	known	70_37	missense	SNP	0.000	T	T	120009305	C	T	120009305	3	4	183	1	0	0	0	0	1	0	0	0	3994	768	27	2	687	2	CT47B1	23	120009305	Missense_Mutation	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	89772401	120009305	35261255	43	34141										
SASH3	54440	genome.wustl.edu	37	chrX	128926434	128926434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	0.431545605271381	1.32627865961199	8.95238095238095	1.03296703296703	0.559440559440559	0.772585272678265	0	actcccagcccctatgaccaCgactcgctgaaactgcaggt	8	16	0	2			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chrX:128926434C>T	ENST00000356892.3	+	5	687	c.573C>T	c.(571-573)caC>caT	p.H191H	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	191	SH3.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCTATGACCACGACTCGCTGA	0.607																																																	0													113	107	109					X																	128926434		2203	4300	6503	SO:0001819	synonymous_variant	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.573C>T	X.37:g.128926434C>T			A6NCH1|A8K7K8|Q5JZ38	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.H191	ENST00000356892.3	37	c.573	CCDS14614.1	X																																																																																			SASH3	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain		0.607	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH3	HGNC	protein_coding	OTTHUMT00000058208.1	C	NM_018990		128926434	1	no_errors	ENST00000356892	ensembl	human	known	70_37	silent	SNP	0.062	T	T	128926434	C	T	128926434	2	4	183	1	0	0	0	0	0	0	0	1	13879	535	19	2		2	SASH3	23	128926434	Silent	SNP	C	TCGA-Q1-A6DV-01A-11D-A32I-09	8917129	128926434	26344126	44	34142										
CLSPN	63967	genome.wustl.edu	37	chr1	36204766	36204766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tccatcgaaacttcctcattCgcccaggaccatcgctgtgc	7	16	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:36204766C>T	ENST00000318121.3	-	20	3458	c.3401G>A	c.(3400-3402)cGa>cAa	p.R1134Q	CLSPN_ENST00000520551.1_Missense_Mutation_p.R1081Q|CLSPN_ENST00000251195.5_Missense_Mutation_p.R1134Q|CLSPN_ENST00000373220.3_Missense_Mutation_p.R1070Q|CLSPN_ENST00000466308.1_5'Flank|RP11-435D7.3_ENST00000373226.2_RNA	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1134					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCCTCATTCGCCCAGGACC	0.463																																																	0													103	94	97					1																	36204766		2203	4300	6503	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3401G>A	1.37:g.36204766C>T	ENSP00000312995:p.Arg1134Gln		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	NULL	p.R1134Q	ENST00000318121.3	37	c.3401	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.877908	0.97055	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.56444	0.47;0.46;0.53;0.55	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	M	0.81802	2.56	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77816	-0.2447	10	0.87932	D	0	-6.5042	20.3827	0.98937	0.0:1.0:0.0:0.0	.	1070;1134	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Q	1134;1134;1070;1081	ENSP00000251195:R1134Q;ENSP00000312995:R1134Q;ENSP00000362317:R1070Q;ENSP00000428848:R1081Q	ENSP00000251195:R1134Q	R	-	2	0	CLSPN	35977353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.823000	0.97156	0.644000	0.83932	CGA	CLSPN	-	NULL		0.463	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	C	NM_022111		36204766	-1	no_errors	ENST00000318121	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36204766	C	T	36204766	3	4	184	1	0	0	0	0	1	0	0	0	3565	884	31	1	642	1	CLSPN	1	36204766	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09		36204766	213045855	1	34143										
NFYC	4802	genome.wustl.edu	37	chr1	41236471	41236471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	cagccaaccagccctccgacGggcaggccccccaggtgacc	11	20	0	1	rs200544060		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:41236471G>A	ENST00000308733.5	+	10	1354	c.1348G>A	c.(1348-1350)Ggg>Agg	p.G450R	NFYC_ENST00000440226.3_Missense_Mutation_p.G327R|NFYC_ENST00000456393.2_Missense_Mutation_p.G326R|NFYC_ENST00000372652.1_Missense_Mutation_p.G431R|NFYC_ENST00000447388.3_Missense_Mutation_p.G327R|NFYC_ENST00000372654.1_Missense_Mutation_p.G327R|NFYC_ENST00000372653.1_Missense_Mutation_p.G293R|NFYC_ENST00000372651.1_Missense_Mutation_p.G327R|NFYC_ENST00000427410.2_Missense_Mutation_p.G289R|NFYC_ENST00000425457.2_Missense_Mutation_p.G346R			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	450					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GCCCTCCGACGGGCAGGCCCC	0.647																																																	0													57	54	55					1																	41236471		2203	4300	6503	SO:0001583	missense	4802			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.1348G>A	1.37:g.41236471G>A	ENSP00000312617:p.Gly450Arg		B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.G450R	ENST00000308733.5	37	c.1348		1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570363	0.86542	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372654;ENST00000372653;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000308733	T;T;T;T;T;T;T;T;T;T	0.54866	0.55;1.17;1.21;1.19;1.17;1.27;0.95;1.17;1.17;0.97	5.51	5.51	0.81932	.	0.050682	0.85682	D	0.000000	T	0.67767	0.2928	L	0.51422	1.61	0.35551	D	0.803872	D;P;P;P;D;D;D	0.89917	0.999;0.943;0.553;0.862;1.0;1.0;0.997	D;P;B;B;D;D;P	0.71870	0.922;0.515;0.069;0.422;0.975;0.975;0.787	T	0.75051	-0.3454	10	0.87932	D	0	.	17.3161	0.87225	0.0:0.0:1.0:0.0	.	289;450;293;431;326;327;346	B4DW63;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;NFYC_HUMAN;.;.;.;.;.	R	289;327;346;326;327;293;431;327;327;450	ENSP00000408315:G289R;ENSP00000404427:G327R;ENSP00000396620:G346R;ENSP00000408867:G326R;ENSP00000361738:G327R;ENSP00000361737:G293R;ENSP00000361736:G431R;ENSP00000361734:G327R;ENSP00000414299:G327R;ENSP00000312617:G450R	ENSP00000312617:G450R	G	+	1	0	NFYC	41009058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.287000	0.59001	2.764000	0.94973	0.558000	0.71614	GGG	NFYC	-	NULL		0.647	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1	G	NM_014223		41236471	1	no_errors	ENST00000308733	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41236471	G	A	41236471	3	1	184	1	0	0	0	0	1	0	0	0	10415	1116	39	2	1074	2	NFYC	1	41236471	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	5031705	41236471	208014150	2	34144										
KDM4A	9682	genome.wustl.edu	37	chr1	44163650	44163650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	agtcaactttgatgatggctCcttcagcgacaatctttatc	7	10	3	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:44163650C>A	ENST00000372396.3	+	19	2941	c.2807C>A	c.(2806-2808)tCc>tAc	p.S936Y	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	936	Tudor 1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGATGGCTCCTTCAGCGAC	0.483																																																	0													120	116	118					1																	44163650		2203	4300	6503	SO:0001583	missense	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2807C>A	1.37:g.44163650C>A	ENSP00000361473:p.Ser936Tyr		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S936Y	ENST00000372396.3	37	c.2807	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.272124	0.95429	.	.	ENSG00000066135	ENST00000372396	T	0.74002	-0.8	6.08	6.08	0.98989	Tudor domain (1);	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88464	0.3057	10	0.87932	D	0	-23.5429	20.6634	0.99662	0.0:1.0:0.0:0.0	.	936	O75164	KDM4A_HUMAN	Y	936	ENSP00000361473:S936Y	ENSP00000361473:S936Y	S	+	2	0	KDM4A	43936237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	TCC	KDM4A	-	smart_Tudor		0.483	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	C	NM_014663		44163650	1	no_errors	ENST00000372396	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44163650	C	A	44163650	3	1	184	1	0	0	0	0	1	0	0	0	8148	855	30	3	2877	3	KDM4A	1	44163650	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	2927179	44163650	205086971	3	34145										
SLC6A9	6536	genome.wustl.edu	37	chr1	44467157	44467157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gagggcctcggggtaagccaCgaaggccaggccagggccgt	18	12	0	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:44467157C>T	ENST00000360584.2	-	9	1515	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	SLC6A9_ENST00000372306.3_Missense_Mutation_p.V369M|SLC6A9_ENST00000372307.3_Missense_Mutation_p.V304M|SLC6A9_ENST00000372310.3_Missense_Mutation_p.V369M|SLC6A9_ENST00000357730.2_Missense_Mutation_p.V388M|SLC6A9_ENST00000537678.1_Missense_Mutation_p.V304M|SLC6A9_ENST00000475075.2_Missense_Mutation_p.V258M	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	442					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGGTAAGCCACGAAGGCCAGG	0.607																																																	0													100	99	99					1																	44467157		2203	4300	6503	SO:0001583	missense	6536			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1324G>A	1.37:g.44467157C>T	ENSP00000353791:p.Val442Met		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.V442M	ENST00000360584.2	37	c.1324	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360284	0.82353	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.88749	0.6521	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.996;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.71870	0.954;0.909;0.975;0.961;0.961;0.969	D	0.89959	0.4085	10	0.87932	D	0	.	19.1833	0.93632	0.0:1.0:0.0:0.0	.	373;369;304;369;388;442	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	M	304;369;369;258;442;388;304	ENSP00000361381:V304M;ENSP00000361380:V369M;ENSP00000361384:V369M;ENSP00000434460:V258M;ENSP00000353791:V442M;ENSP00000350362:V388M;ENSP00000442523:V304M	ENSP00000350362:V388M	V	-	1	0	SLC6A9	44239744	0.996000	0.38824	0.996000	0.52242	0.958000	0.62258	3.295000	0.51794	2.606000	0.88127	0.655000	0.94253	GTG	SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.607	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	C	NM_201649		44467157	-1	no_errors	ENST00000360584	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44467157	C	T	44467157	3	4	184	1	0	0	0	0	1	0	0	0	14721	536	19	2	820	2	SLC6A9	1	44467157	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	303507	44467157	204783464	4	34146										
EPS15	2060	genome.wustl.edu	37	chr1	51910614	51910614	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	catttcaggagtaagaacgtGaggaggatcaatgcccttga	12	7	2	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:51910614G>C	ENST00000371733.3	-	11	997	c.901C>G	c.(901-903)Cac>Gac	p.H301D	EPS15_ENST00000371730.2_Missense_Mutation_p.H301D	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	301	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GTAAGAACGTGAGGAGGATCA	0.398			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											186	171	176					1																	51910614		2203	4300	6503	SO:0001583	missense	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.901C>G	1.37:g.51910614G>C	ENSP00000360798:p.His301Asp		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.H301D	ENST00000371733.3	37	c.901	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143851	0.57044	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.27402	1.67;1.67	5.39	5.39	0.77823	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.249770	0.20884	N	0.083959	T	0.16981	0.0408	N	0.04043	-0.29	0.80722	D	1	P;B	0.39576	0.679;0.05	B;B	0.37387	0.248;0.031	T	0.12630	-1.0540	10	0.13108	T	0.6	.	19.5302	0.95226	0.0:0.0:1.0:0.0	.	301;301	B1AUU8;P42566	.;EPS15_HUMAN	D	301	ENSP00000360795:H301D;ENSP00000360798:H301D	ENSP00000360795:H301D	H	-	1	0	EPS15	51683202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.517000	0.67061	2.689000	0.91719	0.655000	0.94253	CAC	EPS15	-	smart_EPS15_homology,pfscan_EPS15_homology		0.398	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	G	NM_001981		51910614	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51910614	G	C	51910614	3	2	184	1	0	0	0	0	1	0	0	0	5204	1290	45	1	1947	1	EPS15	1	51910614	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	7443457	51910614	197340007	5	34147										
COL11A1	1301	genome.wustl.edu	37	chr1	103379961	103379961	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tccaggaaaaccaacaggacCctagaatgacgttttgaaag	9	9	0	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:103379961C>A	ENST00000370096.3	-	52	4237	c.3925G>T	c.(3925-3927)Ggt>Tgt	p.G1309C	COL11A1_ENST00000358392.2_Splice_Site_p.G1321C|COL11A1_ENST00000353414.4_Splice_Site_p.G1270C|COL11A1_ENST00000512756.1_Splice_Site_p.G1193C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1309	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAACAGGACCCTAGAATGAC	0.363																																																	0													35	35	35					1																	103379961		2201	4299	6500	SO:0001630	splice_region_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3925-1G>T	1.37:g.103379961C>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.G1321C	ENST00000370096.3	37	c.3961	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099791	0.56183	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99186	-4.24;-4.24;-5.53;-5.53	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	H	0.97365	3.99	0.80722	D	1	B;B;D;B;B	0.89917	0.125;0.197;1.0;0.125;0.049	B;B;D;B;B	0.97110	0.041;0.09;1.0;0.041;0.043	D	0.97698	1.0183	10	0.87932	D	0	.	19.5192	0.95179	0.0:1.0:0.0:0.0	.	1193;1270;1321;1309;529	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	1309;1321;1270;529;1193	ENSP00000359114:G1309C;ENSP00000351163:G1321C;ENSP00000302551:G1270C;ENSP00000426533:G1193C	ENSP00000302551:G1270C	G	-	1	0	COL11A1	103152549	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.562000	0.67346	2.611000	0.88343	0.655000	0.94253	GGT	COL11A1	-	NULL		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	C	NM_080630	Missense_Mutation	103379961	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103379961	C	A	103379961	5	1	184	1	0	0	0	0	0	0	1	0	3672	637	22	4	1559	4	COL11A1	1	103379961	Splice_Site	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	51469347	103379961	145870660	6	34148										
CSF1	1435	genome.wustl.edu	37	chr1	110466722	110466722	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggatccttcagcccgcagctCcaggagtctgtcttccacct	9	16	3	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:110466722C>T	ENST00000329608.6	+	6	1870	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	CSF1_ENST00000344188.5_Silent_p.L377L|CSF1_ENST00000369801.1_Silent_p.L377L|CSF1_ENST00000369802.3_Silent_p.L493L|CSF1_ENST00000420111.2_Silent_p.L195L	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	493					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCGCAGCTCCAGGAGTCTG	0.612																																																	0													50	52	51					1																	110466722		2203	4300	6503	SO:0001819	synonymous_variant	1435			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1479C>T	1.37:g.110466722C>T			A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1	p.L493	ENST00000329608.6	37	c.1479	CCDS816.1	1																																																																																			CSF1	-	pfam_MCSF-1,pirsf_MCSF-1		0.612	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1	HGNC	protein_coding	OTTHUMT00000032208.1	C	NM_000757		110466722	1	no_errors	ENST00000329608	ensembl	human	known	70_37	silent	SNP	0.004	T	T	110466722	C	T	110466722	2	4	184	1	0	0	0	0	0	0	0	1	3936	842	30	1		1	CSF1	1	110466722	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	7086761	110466722	138783899	7	34149										
MOV10	4343	genome.wustl.edu	37	chr1	113217534	113217534	+	De_novo_Start_InFrame	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tgggccgcagccgccgccgcGatgcccagtaagttcagctg	14	15	1	0	rs36098333		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:113217534G>A	ENST00000413052.2	+	0	390				MOV10_ENST00000357443.2_De_novo_Start_InFrame|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_De_novo_Start_InFrame|MOV10_ENST00000369644.1_De_novo_Start_OutOfFrame|MOV10_ENST00000544796.1_De_novo_Start_InFrame	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCGCCGCCGCGATGCCCAGTA	0.647																																																	0													37	46	43					1																	113217534		2203	4297	6500			4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906		1.37:g.113217534G>A			Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	RNA	SNP	-	NULL	ENST00000413052.2	37	NULL	CCDS853.1	1																																																																																			MOV10	-	-		0.647	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	G	NM_020963		113217534	1	no_errors	ENST00000461226	ensembl	human	known	70_37	rna	SNP	1.000	A	A	113217534	G	A	113217534	1	1	184	1	0	1	0	0	0	0	0	0	9741	1073	37	1		1	MOV10	1	113217534	De_novo_Start_InFrame	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	2750812	113217534	136033087	8	34150										
LRIG2	9860	genome.wustl.edu	37	chr1	113657099	113657099	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ataagacagtaacacgaggtGaaactgcggtgttacagtgc	12	7	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:113657099G>A	ENST00000361127.5	+	15	2329	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	711	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACACGAGGTGAAACTGCGGT	0.423																																																	0													81	76	77					1																	113657099		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2131G>A	1.37:g.113657099G>A	ENSP00000355396:p.Glu711Lys		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E711K	ENST00000361127.5	37	c.2131	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049080	0.93740	.	.	ENSG00000198799	ENST00000361127	T	0.32753	1.44	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	N	0.25245	0.725	0.80722	D	1	P	0.38048	0.616	P	0.51550	0.673	T	0.09862	-1.0655	10	0.45353	T	0.12	.	19.1015	0.93276	0.0:0.0:1.0:0.0	.	711	O94898	LRIG2_HUMAN	K	711	ENSP00000355396:E711K	ENSP00000355396:E711K	E	+	1	0	LRIG2	113458622	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.869000	0.99810	2.499000	0.84300	0.462000	0.41574	GAA	LRIG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.423	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	G	NM_014813		113657099	1	no_errors	ENST00000361127	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113657099	G	A	113657099	3	1	184	1	0	0	0	0	1	0	0	0	8968	1291	45	1	2189	1	LRIG2	1	113657099	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	439565	113657099	135593522	9	34151										
DCLRE1B	64858	genome.wustl.edu	37	chr1	114454370	114454370	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctccctggcctgcggaccttGaaaagcagccttcccaccat	8	17	0	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:114454370G>C	ENST00000369563.3	+	4	1602	c.1156G>C	c.(1156-1158)Gaa>Caa	p.E386Q	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	386					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCGGACCTTGAAAAGCAGCC	0.478								Other identified genes with known or suspected DNA repair function																																									0													84	88	87					1																	114454370		2203	4300	6503	SO:0001583	missense	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1156G>C	1.37:g.114454370G>C	ENSP00000358576:p.Glu386Gln		Q9H9E5	Missense_Mutation	SNP	pfam_DRMBL	p.E386Q	ENST00000369563.3	37	c.1156	CCDS866.1	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526548	0.27299	.	.	ENSG00000118655	ENST00000369563	T	0.75821	-0.97	5.73	-0.0392	0.13877	.	0.657186	0.14078	N	0.342935	T	0.32704	0.0838	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.15321	-1.0441	10	0.31617	T	0.26	-11.5121	2.0204	0.03508	0.1926:0.3505:0.3234:0.1335	.	386	Q9H816	DCR1B_HUMAN	Q	386	ENSP00000358576:E386Q	ENSP00000358576:E386Q	E	+	1	0	DCLRE1B	114255893	0.018000	0.18449	0.100000	0.21137	0.099000	0.18886	0.401000	0.20948	0.028000	0.15324	-1.058000	0.02302	GAA	DCLRE1B	-	NULL		0.478	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	HGNC	protein_coding	OTTHUMT00000033020.2	G	NM_022836		114454370	1	no_errors	ENST00000369563	ensembl	human	known	70_37	missense	SNP	0.017	C	C	114454370	G	C	114454370	3	2	184	1	0	0	0	0	1	0	0	0	4300	1291	45	1	1170	1	DCLRE1B	1	114454370	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	797271	114454370	134796251	10	34152										
BCL9	607	genome.wustl.edu	37	chr1	147096378	147096378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tccagggccagtgggaactcCggacatccctcttggtacag	12	13	1	0	rs141699147		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:147096378C>T	ENST00000234739.3	+	10	4639	c.3899C>T	c.(3898-3900)cCg>cTg	p.P1300L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1300	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GTGGGAACTCCGGACATCCCT	0.582			T	"IGH@, IGL@"	B-ALL								C|||	1	0.000199681	8e-04	0	5008	,	,		17133	0		0	False		,,,				2504	0							Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0								C	LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	86	69	75		3899	5.3	1	1	dbSNP_134	75	0,8600		0,0,4300	yes	missense	BCL9	NM_004326.2	98	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	1300/1427	147096378	7,12999	2203	4300	6503	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3899C>T	1.37:g.147096378C>T	ENSP00000234739:p.Pro1300Leu		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P1300L	ENST00000234739.3	37	c.3899	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612579	0.28712	0.001589	0.0	ENSG00000116128	ENST00000234739	T	0.48201	0.82	5.26	5.26	0.73747	.	0.054056	0.85682	D	0.000000	T	0.21962	0.0529	L	0.29908	0.895	0.46222	D	0.998937	P;P	0.43352	0.804;0.804	B;B	0.30251	0.113;0.113	T	0.08973	-1.0696	10	0.44086	T	0.13	-9.7449	18.8573	0.92257	0.0:1.0:0.0:0.0	.	1300;1300	Q1JQ81;O00512	.;BCL9_HUMAN	L	1300	ENSP00000234739:P1300L	ENSP00000234739:P1300L	P	+	2	0	BCL9	145563002	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.651000	0.61447	2.456000	0.83038	0.650000	0.86243	CCG	BCL9	-	NULL		0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	C	NM_004326		147096378	1	no_errors	ENST00000234739	ensembl	human	known	70_37	missense	SNP	1.000	T	T	147096378	C	T	147096378	3	4	184	1	0	0	0	0	1	0	0	0	1382	652	23	2	3925	2	BCL9	1	147096378	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	32642008	147096378	102154243	11	34153										
HSPA6	3310	genome.wustl.edu	37	chr1	161495319	161495319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tggagatagactccctgttcGagggcgtggacttctacacg	13	10	1	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:161495319G>A	ENST00000309758.4	+	1	1284	c.871G>A	c.(871-873)Gag>Aag	p.E291K	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	291					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTCCCTGTTCGAGGGCGTGGA	0.652																																																	0													26	29	28					1																	161495319		2203	4300	6503	SO:0001583	missense	3310				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.871G>A	1.37:g.161495319G>A	ENSP00000310219:p.Glu291Lys		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E291K	ENST00000309758.4	37	c.871	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	15.64	2.892152	0.52014	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01051	5.4	3.12	1.07	0.20283	.	0.189352	0.24884	U	0.034824	T	0.01558	0.0050	M	0.92784	3.345	0.38352	D	0.944378	D	0.54207	0.965	P	0.47102	0.537	T	0.42103	-0.9471	10	0.87932	D	0	.	5.4122	0.16354	0.1268:0.2077:0.6654:0.0	.	291	P17066	HSP76_HUMAN	K	291;267	ENSP00000310219:E291K	ENSP00000310219:E291K	E	+	1	0	HSPA6	159761943	1.000000	0.71417	0.212000	0.23672	0.694000	0.40290	2.978000	0.49305	0.027000	0.15297	-0.300000	0.09419	GAG	HSPA6	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.652	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	G	NM_002155		161495319	1	no_errors	ENST00000309758	ensembl	human	known	70_37	missense	SNP	1.000	A	A	161495319	G	A	161495319	3	1	184	1	0	0	0	0	1	0	0	0	7435	1059	37	1	873	1	HSPA6	1	161495319	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	14398941	161495319	87755302	12	34154										
CACNA1E	777	genome.wustl.edu	37	chr1	181453098	181453098	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	cagatccctgttcatcttcgGagaagataacattgtcagga	9	9	3	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:181453098G>C	ENST00000367573.2	+	1	218	c.218G>C	c.(217-219)gGa>gCa	p.G73A	CACNA1E_ENST00000526775.1_Missense_Mutation_p.G73A|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G24A|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G73A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G73A|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G24A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	73					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCATCTTCGGAGAAGATAAC	0.502																																																	0													173	177	176					1																	181453098		1916	4135	6051	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.218G>C	1.37:g.181453098G>C	ENSP00000356545:p.Gly73Ala		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.G73A	ENST00000367573.2	37	c.218	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908816	0.72868	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.36413	0.0966	L	0.28400	0.85	0.80722	D	1	P	0.36683	0.565	B	0.26416	0.069	T	0.29212	-1.0019	10	0.54805	T	0.06	.	18.5497	0.91058	0.0:0.0:1.0:0.0	.	73	Q15878-3	.	A	73;73;73;24;24;73;73	ENSP00000432038:G73A;ENSP00000356542:G73A;ENSP00000434814:G73A;ENSP00000350183:G24A;ENSP00000351101:G24A;ENSP00000353222:G73A;ENSP00000356545:G73A	ENSP00000350183:G24A	G	+	2	0	CACNA1E	179719721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.956000	0.56722	2.667000	0.90743	0.561000	0.74099	GGA	CACNA1E	-	NULL		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181453098	1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	1.000	C	C	181453098	G	C	181453098	3	2	184	1	0	0	0	0	1	0	0	0	2547	1174	41	1	220	1	CACNA1E	1	181453098	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	19957779	181453098	67797523	13	34155										
CNTN2	6900	genome.wustl.edu	37	chr1	205042274	205042274	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggatagaaatcccagtgcctGaagacattggccatgccctg	11	11	0	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr1:205042274G>A	ENST00000331830.4	+	22	3207	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	975	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCAGTGCCTGAAGACATTGG	0.567																																					Melanoma(183;2548 2817 37099 41192)												0													84	76	79					1																	205042274		2203	4300	6503	SO:0001583	missense	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2923G>A	1.37:g.205042274G>A	ENSP00000330633:p.Glu975Lys		P78432|Q5T054	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E975K	ENST00000331830.4	37	c.2923	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533584	0.27387	.	.	ENSG00000184144	ENST00000331830	T	0.16073	2.37	5.29	5.29	0.74685	Fibronectin, type III (2);	0.000000	0.51477	D	0.000090	T	0.14056	0.0340	L	0.32530	0.975	0.46823	D	0.99921	B	0.20780	0.048	B	0.18871	0.023	T	0.06807	-1.0806	10	0.06757	T	0.87	.	18.888	0.92387	0.0:0.0:1.0:0.0	.	975	Q02246	CNTN2_HUMAN	K	975	ENSP00000330633:E975K	ENSP00000330633:E975K	E	+	1	0	CNTN2	203308897	1.000000	0.71417	0.918000	0.36340	0.793000	0.44817	5.583000	0.67484	2.635000	0.89317	0.655000	0.94253	GAA	CNTN2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	G	NM_005076		205042274	1	no_errors	ENST00000331830	ensembl	human	known	70_37	missense	SNP	0.987	A	A	205042274	G	A	205042274	3	1	184	1	0	0	0	0	1	0	0	0	3646	1291	45	1	3005	1	CNTN2	1	205042274	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	23589176	205042274	44208347	14	34156										
HEATR5B	54497	genome.wustl.edu	37	chr2	37247929	37247929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gttgctatgatcagttgcagCcatgaatgccatgcgaatga	11	8	1	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:37247929C>A	ENST00000233099.5	-	25	3999	c.3904G>T	c.(3904-3906)Gct>Tct	p.A1302S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1302S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1302						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCAGTTGCAGCCATGAATGCC	0.428																																																	0													43	42	42					2																	37247929		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3904G>T	2.37:g.37247929C>A	ENSP00000233099:p.Ala1302Ser		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A1302S	ENST00000233099.5	37	c.3904	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.507927	0.96386	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.53857	0.6;0.6	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	L	0.56396	1.775	0.80722	D	1	D	0.76494	0.999	D	0.63877	0.919	T	0.67526	-0.5648	10	0.49607	T	0.09	-23.5115	20.0109	0.97448	0.0:1.0:0.0:0.0	.	1302	Q9P2D3	HTR5B_HUMAN	S	1302	ENSP00000233099:A1302S;ENSP00000346531:A1302S	ENSP00000233099:A1302S	A	-	1	0	HEATR5B	37101433	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.071000	0.71229	2.738000	0.93877	0.591000	0.81541	GCT	HEATR5B	-	superfamily_ARM-type_fold		0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	C	NM_019024		37247929	-1	no_errors	ENST00000233099	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37247929	C	A	37247929	3	1	184	1	0	0	0	0	1	0	0	0	7052	739	26	4	2359	4	HEATR5B	2	37247929	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09		37247929	205951444	15	34157										
SPRED2	200734	genome.wustl.edu	37	chr2	65571869	65571869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ttaccagtttgtctttctgtCgttcaccatggatgagaaag	9	8	3	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:65571869C>T	ENST00000356388.4	-	2	377	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.R60Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	63	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GTCTTTCTGTCGTTCACCATG	0.478																																																	0													106	94	98					2																	65571869		2203	4300	6503	SO:0001583	missense	200734			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.188G>A	2.37:g.65571869C>T	ENSP00000348753:p.Arg63Gln		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.R63Q	ENST00000356388.4	37	c.188	CCDS33211.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.339101|5.339101	0.95783|0.95783	.|.	.|.	ENSG00000198369|ENSG00000198369	ENST00000427238|ENST00000356388;ENST00000443619;ENST00000452315;ENST00000440972	.|D;D;D;D	.|0.86694	.|-2.16;-2.16;-2.16;-2.16	4.98|4.98	4.98|4.98	0.66077|0.66077	.|EVH1 (2);Pleckstrin homology-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94798|0.94798	0.8320|0.8320	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	D|D	0.95767|0.95767	0.8805|0.8805	5|10	.|0.72032	.|D	.|0.01	-5.0542|-5.0542	18.2435|18.2435	0.89977|0.89977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|60;63	.|E9PEP0;Q7Z698	.|.;SPRE2_HUMAN	N|Q	18|63;60;78;63	.|ENSP00000348753:R63Q;ENSP00000393697:R60Q;ENSP00000390595:R78Q;ENSP00000406481:R63Q	.|ENSP00000348753:R63Q	D|R	-|-	1|2	0|0	SPRED2|SPRED2	65425373|65425373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.800000|7.800000	0.85949|0.85949	2.281000|2.281000	0.76405|0.76405	0.305000|0.305000	0.20034|0.20034	GAC|CGA	SPRED2	-	pfam_EVH1,smart_EVH1,pfscan_EVH1		0.478	SPRED2-001	KNOWN	basic|CCDS	protein_coding	SPRED2	HGNC	protein_coding	OTTHUMT00000327632.1	C			65571869	-1	no_errors	ENST00000356388	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65571869	C	T	65571869	3	4	184	1	0	0	0	0	1	0	0	0	15123	884	31	1	1088	1	SPRED2	2	65571869	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	28323940	65571869	177627504	16	34158										
PSD4	23550	genome.wustl.edu	37	chr2	113943595	113943595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tcccaggcccagccctgcatCgtcccaggagggcagcccgc	12	19	0	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:113943595C>T	ENST00000245796.6	+	5	1586	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	PSD4_ENST00000441564.3_Missense_Mutation_p.S436L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	464					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCTGCATCGTCCCAGGAG	0.617																																																	0													49	48	49					2																	113943595		2203	4300	6503	SO:0001583	missense	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1391C>T	2.37:g.113943595C>T	ENSP00000245796:p.Ser464Leu		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.S464L	ENST00000245796.6	37	c.1391	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477538	0.44044	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.11712	2.75;2.79	5.17	4.22	0.49857	.	0.550981	0.15487	N	0.259750	T	0.07234	0.0183	L	0.32530	0.975	0.21184	N	0.999762	P;P;P	0.46327	0.569;0.876;0.804	B;B;B	0.34652	0.086;0.187;0.091	T	0.29336	-1.0015	10	0.32370	T	0.25	.	10.0011	0.41929	0.2155:0.7845:0.0:0.0	.	122;436;464	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	L	464;436	ENSP00000245796:S464L;ENSP00000413997:S436L	ENSP00000245796:S464L	S	+	2	0	PSD4	113660066	0.001000	0.12720	0.073000	0.20177	0.641000	0.38312	1.089000	0.30890	2.688000	0.91661	0.563000	0.77884	TCG	PSD4	-	NULL		0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	C	NM_012455		113943595	1	no_errors	ENST00000245796	ensembl	human	known	70_37	missense	SNP	0.009	T	T	113943595	C	T	113943595	3	4	184	1	0	0	0	0	1	0	0	0	12676	893	31	1	1405	1	PSD4	2	113943595	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	48371726	113943595	129255778	17	34159										
LRP1B	53353	genome.wustl.edu	37	chr2	141092125	141092125	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ccaacaacagtccagtacatCatcctgaagagagcgggtca	9	12	2	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:141092125C>T	ENST00000389484.3	-	79	13091	c.12120G>A	c.(12118-12120)atG>atA	p.M4040I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4040					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAGTACATCATCCTGAAGA	0.493										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													130	117	122					2																	141092125		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12120G>A	2.37:g.141092125C>T	ENSP00000374135:p.Met4040Ile		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.M4040I	ENST00000389484.3	37	c.12120	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860675	0.51482	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95853	-3.83	6.08	6.08	0.98989	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.100100	0.64402	D	0.000003	D	0.90665	0.7072	L	0.31664	0.95	0.44825	D	0.997836	P	0.38280	0.625	B	0.34931	0.192	D	0.88611	0.3156	10	0.22706	T	0.39	.	13.4918	0.61399	0.0:0.9284:0.0:0.0716	.	4040	Q9NZR2	LRP1B_HUMAN	I	4040;3978	ENSP00000374135:M4040I	ENSP00000374135:M4040I	M	-	3	0	LRP1B	140808595	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.668000	0.68074	2.894000	0.99253	0.591000	0.81541	ATG	LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.493	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141092125	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	T	T	141092125	C	T	141092125	3	4	184	1	0	0	0	0	1	0	0	0	8978	826	29	1	1731	1	LRP1B	2	141092125	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	27148530	141092125	102107248	18	34160										
NEB	4703	genome.wustl.edu	37	chr2	152409245	152409245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gactggtgtatctgtgacaaGcttgtagtcattccttgttt	10	7	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:152409245G>T	ENST00000172853.10	-	100	14821	c.14674C>A	c.(14674-14676)Ctt>Att	p.L4892I	NEB_ENST00000604864.1_Missense_Mutation_p.L6593I|NEB_ENST00000427231.2_Missense_Mutation_p.L6593I|NEB_ENST00000409198.1_Missense_Mutation_p.L4892I|NEB_ENST00000603639.1_Missense_Mutation_p.L6593I|NEB_ENST00000397345.3_Missense_Mutation_p.L6593I			P20929	NEBU_HUMAN	nebulin	4892					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGTGACAAGCTTGTAGTCA	0.433																																																	0													205	180	188					2																	152409245		1951	4154	6105	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14674C>A	2.37:g.152409245G>T	ENSP00000172853:p.Leu4892Ile		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L6593I	ENST00000172853.10	37	c.19777		2	.	.	.	.	.	.	.	.	.	.	G	9.106	1.005439	0.19199	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06687	3.4;3.39;3.37;3.27;3.4	6.06	-12.1	0.00011	.	0.274302	0.35320	N	0.003288	T	0.12092	0.0294	L	0.55481	1.735	0.25880	N	0.983604	B;D	0.61080	0.034;0.989	B;D	0.72338	0.04;0.977	T	0.15009	-1.0452	10	0.36615	T	0.2	.	8.1609	0.31198	0.2259:0.0946:0.535:0.1445	.	4892;1323	P20929;Q14215	NEBU_HUMAN;.	I	4892;6593;6593;941;1323;4892	ENSP00000386259:L4892I;ENSP00000380505:L6593I;ENSP00000416578:L6593I;ENSP00000410961:L1323I;ENSP00000172853:L4892I	ENSP00000172853:L4892I	L	-	1	0	NEB	152117491	0.000000	0.05858	0.279000	0.24732	0.302000	0.27658	-2.243000	0.01194	-2.023000	0.00937	-0.979000	0.02580	CTT	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.433	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152409245	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152409245	G	T	152409245	3	4	184	1	0	0	0	0	1	0	0	0	10326	971	34	4	6129	4	NEB	2	152409245	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	11317120	152409245	90790128	19	34161										
COBLL1	22837	genome.wustl.edu	37	chr2	165561498	165561498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ttcatcactttgatgcggggGtattttggagggtggggaag	17	4	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:165561498G>A	ENST00000392717.2	-	8	1232	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	COBLL1_ENST00000409184.3_Missense_Mutation_p.P410S|COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000194871.6_Missense_Mutation_p.P438S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P372S|COBLL1_ENST00000375458.2_Missense_Mutation_p.P372S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	410						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGATGCGGGGGTATTTTGGAG	0.428																																																	0													176	170	172					2																	165561498		2203	4300	6503	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1228C>T	2.37:g.165561498G>A	ENSP00000376478:p.Pro410Ser		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.P438S	ENST00000392717.2	37	c.1312		2	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843777	0.16963	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.74	-1.69	0.08186	.	0.614668	0.16113	N	0.228976	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.14023	0.006;0.006;0.01	T	0.22243	-1.0222	9	0.22706	T	0.39	-0.0618	7.0491	0.25063	0.4147:0.2068:0.3786:0.0	.	410;438;410	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	372;372;410;410;438	.	ENSP00000194871:P438S	P	-	1	0	COBLL1	165269744	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.291000	0.08343	-0.371000	0.08004	-1.084000	0.02203	CCC	COBLL1	-	NULL		0.428	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		G	NM_014900		165561498	-1	no_errors	ENST00000194871	ensembl	human	known	70_37	missense	SNP	0.000	A	A	165561498	G	A	165561498	3	1	184	1	0	0	0	0	1	0	0	0	3659	1261	44	4	2418	4	COBLL1	2	165561498	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	13152253	165561498	77637875	20	34162										
MYO3B	140469	genome.wustl.edu	37	chr2	171258178	171258178	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gtgaatcgcattaatacactCctgcagccagacgaaaacat	7	11	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:171258178C>T	ENST00000408978.4	+	18	2249	c.2106C>T	c.(2104-2106)ctC>ctT	p.L702L	MYO3B_ENST00000409044.3_Silent_p.L702L|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.L711L	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	702	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTAATACACTCCTGCAGCCAG	0.532																																																	0													53	51	52					2																	171258178		1965	4151	6116	SO:0001819	synonymous_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2106C>T	2.37:g.171258178C>T			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.L711	ENST00000408978.4	37	c.2133	CCDS42773.1	2																																																																																			MYO3B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.532	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	C			171258178	1	no_errors	ENST00000334231	ensembl	human	known	70_37	silent	SNP	0.998	T	T	171258178	C	T	171258178	2	4	184	1	0	0	0	0	0	0	0	1	10100	842	30	1		1	MYO3B	2	171258178	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	5696680	171258178	71941195	21	34163										
PLCL1	5334	genome.wustl.edu	37	chr2	198966046	198966047	+	Frame_Shift_Del	DEL	AC	AC	-													0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gtttctcatagaaatggcggAcacagtccaggaaaagattg							TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:198966046_198966047delAC	ENST00000428675.1	+	4	3355_3356	c.2957_2958delAC	c.(2956-2958)gacfs	p.D986fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.D888fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	986					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAATGGCGGACACAGTCCAGG	0.332																																																	0																																										SO:0001589	frameshift_variant	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2957_2958delAC	2.37:g.198966048_198966049delAC	ENSP00000402861:p.Asp986fs		Q3MJ90|Q53SD3|Q7Z3S3	Frame_Shift_Del	DEL	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.T987fs	ENST00000428675.1	37	c.2957_2958	CCDS2326.2	2																																																																																			PLCL1	-	NULL		0.332	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	AC	NM_006226		198966047	1	no_errors	ENST00000428675	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.999	-	-	198966047	AC	-	198966046	7	5	184	1	0	1	0	1	0	0	0	0	12063	275	10	0	2971	0	PLCL1	2	198966046	Frame_Shift_Del	DEL	AC	TCGA-Q1-A6DW-01A-11D-A32I-09	27707868	198966046	44233327	22	34164										
NOP58	51602	genome.wustl.edu	37	chr2	203149076	203149076	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	atgttcttgtaggaaaagctGaatctcagttgtatccatag	9	6	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:203149076G>A	ENST00000264279.5	+	5	532	c.306G>A	c.(304-306)ctG>ctA	p.L102L	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	102					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGGAAAAGCTGAATCTCAGTT	0.333																																																	0													83	76	78					2																	203149076		2203	4300	6503	SO:0001819	synonymous_variant	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.306G>A	2.37:g.203149076G>A			Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.L102	ENST00000264279.5	37	c.306	CCDS2353.1	2																																																																																			NOP58	-	NULL		0.333	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	G	NM_015934		203149076	1	no_errors	ENST00000264279	ensembl	human	known	70_37	silent	SNP	1.000	A	A	203149076	G	A	203149076	2	1	184	1	0	0	0	0	0	0	0	1	10564	1277	45	1		1	NOP58	2	203149076	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	4183030	203149076	40050297	23	34165										
LRRFIP1	9208	genome.wustl.edu	37	chr2	238657916	238657916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	acttcctctcggagaggcagCggagacacctccatctccat	9	15	2	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr2:238657916C>T	ENST00000392000.4	+	6	477	c.360C>T	c.(358-360)agC>agT	p.S120S	LRRFIP1_ENST00000289175.6_Silent_p.S88S|LRRFIP1_ENST00000244815.5_Silent_p.S120S|LRRFIP1_ENST00000308482.9_Silent_p.S248S	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	120					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GGAGAGGCAGCGGAGACACCT	0.542																																																	0													74	57	63					2																	238657916		2203	4300	6503	SO:0001819	synonymous_variant	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.360C>T	2.37:g.238657916C>T			E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.S120	ENST00000392000.4	37	c.360	CCDS46552.1	2																																																																																			LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.542	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	C	NM_004735		238657916	1	no_errors	ENST00000392000	ensembl	human	known	70_37	silent	SNP	0.159	T	T	238657916	C	T	238657916	2	4	184	1	0	0	0	0	0	0	0	1	9050	767	27	2		2	LRRFIP1	2	238657916	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	35508840	238657916	4541457	24	34166										
GRM7	2917	genome.wustl.edu	37	chr3	7348315	7348315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	cagaaggggccatcaccattCagcccaagcgagccacggtg	12	14	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:7348315C>G	ENST00000357716.4	+	4	1283	c.1009C>G	c.(1009-1011)Cag>Gag	p.Q337E	GRM7_ENST00000403881.1_Missense_Mutation_p.Q337E|GRM7_ENST00000389336.4_Missense_Mutation_p.Q337E|GRM7_ENST00000402647.2_Missense_Mutation_p.Q337E|GRM7_ENST00000486284.1_Missense_Mutation_p.Q337E	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	337					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CATCACCATTCAGCCCAAGCG	0.507																																																	0													98	96	97					3																	7348315		2203	4300	6503	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1009C>G	3.37:g.7348315C>G	ENSP00000350348:p.Gln337Glu		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.Q337E	ENST00000357716.4	37	c.1009	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	C	7.022	0.558819	0.13436	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.74	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.329365	0.28630	N	0.014661	T	0.67571	0.2907	N	0.04746	-0.17	0.31759	N	0.633584	B;B;B	0.28419	0.024;0.029;0.211	B;B;B	0.31495	0.025;0.042;0.131	T	0.65294	-0.6203	9	.	.	.	.	15.3785	0.74633	0.0:0.8603:0.1397:0.0	.	337;337;337	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	E	337	ENSP00000350348:Q337E;ENSP00000417536:Q337E;ENSP00000373987:Q337E;ENSP00000385664:Q337E;ENSP00000384585:Q337E	.	Q	+	1	0	GRM7	7323315	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.826000	0.62715	2.890000	0.99128	0.650000	0.86243	CAG	GRM7	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt		0.507	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	C	NM_000844		7348315	1	no_errors	ENST00000402647	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7348315	C	G	7348315	3	3	184	1	0	0	0	0	1	0	0	0	6822	827	29	1	1023	1	GRM7	3	7348315	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09		7348315	190674115	25	34167										
GPD1L	23171	genome.wustl.edu	37	chr3	32200396	32200396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	agctgtgggagctgggttctGcgacggcctccgctgtggag	18	10	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:32200396G>T	ENST00000282541.5	+	6	848	c.647G>T	c.(646-648)tGc>tTc	p.C216F		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	216					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						GCTGGGTTCTGCGACGGCCTC	0.572																																																	0													50	51	51					3																	32200396		2203	4300	6503	SO:0001583	missense	23171			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.647G>T	3.37:g.32200396G>T	ENSP00000282541:p.Cys216Phe		A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	p.C216F	ENST00000282541.5	37	c.647	CCDS33729.1	3	.	.	.	.	.	.	.	.	.	.	g	13.06	2.125839	0.37533	.	.	ENSG00000152642	ENST00000282541;ENST00000425459	T;T	0.63096	-0.02;-0.02	5.45	5.45	0.79879	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal (1);	0.133960	0.64402	D	0.000001	T	0.80681	0.4669	H	0.96080	3.765	0.80722	D	1	P	0.40834	0.73	P	0.45794	0.493	D	0.86450	0.1772	10	0.87932	D	0	-22.0813	19.3028	0.94150	0.0:0.0:1.0:0.0	.	216	Q8N335	GPD1L_HUMAN	F	216;169	ENSP00000282541:C216F;ENSP00000408770:C169F	ENSP00000282541:C216F	C	+	2	0	GPD1L	32175400	1.000000	0.71417	0.797000	0.32132	0.066000	0.16364	7.754000	0.85163	2.555000	0.86185	0.479000	0.44913	TGC	GPD1L	-	pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk		0.572	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD1L	HGNC	protein_coding	OTTHUMT00000341975.2	G	NM_015141		32200396	1	no_errors	ENST00000282541	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32200396	G	T	32200396	3	4	184	1	0	0	0	0	1	0	0	0	6624	1319	46	4	669	4	GPD1L	3	32200396	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	24852081	32200396	165822034	26	34168										
SHISA5	51246	genome.wustl.edu	37	chr3	48538599	48538599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggcacagcacacctttcctcGctccacacaaatttcttcag	5	16	2	0	rs149007494		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:48538599G>A	ENST00000296444.2	-	2	540	c.204C>T	c.(202-204)agC>agT	p.S68S	SHISA5_ENST00000443308.2_Silent_p.S68S|SHISA5_ENST00000444115.1_Silent_p.S37S|SHISA5_ENST00000442747.1_Silent_p.S37S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	68					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						ACCTTTCCTCGCTCCACACAA	0.572																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	148	117	128		204	-4	0	3	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	SHISA5	NM_016479.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		68/241	48538599	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51246			AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"Shisa homologs"	30376	protein-coding gene	gene with protein product		607290	"shisa homolog 5 (Xenopus laevis)"			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.204C>T	3.37:g.48538599G>A			B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Silent	SNP	NULL	p.S68	ENST00000296444.2	37	c.204	CCDS2770.1	3																																																																																			SHISA5	-	NULL		0.572	SHISA5-001	KNOWN	basic|CCDS	protein_coding	SHISA5	HGNC	protein_coding	OTTHUMT00000257504.3	G	NM_016479		48538599	-1	no_errors	ENST00000296444	ensembl	human	known	70_37	silent	SNP	0.000	A	A	48538599	G	A	48538599	2	1	184	1	0	0	0	0	0	0	0	1	14313	1078	38	2		2	SHISA5	3	48538599	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	16338203	48538599	149483831	27	34169										
MST1R	4486	genome.wustl.edu	37	chr3	49939856	49939856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	actggaagaagtcgaggcctCgccggaggcctggatggact	16	10	0	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:49939856C>T	ENST00000296474.3	-	1	1214	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.R396Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	396	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTCGAGGCCTCGCCGGAGGCC	0.567																																																	0													89	102	98					3																	49939856		2203	4300	6503	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1187G>A	3.37:g.49939856C>T	ENSP00000296474:p.Arg396Gln		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R396Q	ENST00000296474.3	37	c.1187	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908789	0.72868	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10960	2.82;2.82	4.77	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.77820	2.39	0.40301	D	0.978611	D;D;D;D;D	0.89917	0.982;1.0;0.967;0.984;1.0	P;D;P;P;D	0.87578	0.765;0.996;0.691;0.771;0.998	T	0.23511	-1.0186	10	0.72032	D	0.01	-9.491	14.3787	0.66897	0.0:0.8505:0.1495:0.0	.	396;396;396;396;396	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	Q	396	ENSP00000296474:R396Q;ENSP00000341325:R396Q	ENSP00000296474:R396Q	R	-	2	0	MST1R	49914860	0.983000	0.35010	0.089000	0.20774	0.401000	0.30781	7.112000	0.77086	0.951000	0.37770	0.561000	0.74099	CGA	MST1R	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag		0.567	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	C			49939856	-1	no_errors	ENST00000296474	ensembl	human	known	70_37	missense	SNP	0.736	T	T	49939856	C	T	49939856	3	4	184	1	0	0	0	0	1	0	0	0	9914	884	31	1	3095	1	MST1R	3	49939856	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	1401257	49939856	148082574	28	34170										
TKT	7086	genome.wustl.edu	37	chr3	53269050	53269050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ccatctggtgctgcagtgggGccgggtcactctggcccagg	16	13	3	0	rs200778000		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:53269050G>T	ENST00000462138.1	-	5	666	c.578C>A	c.(577-579)gCc>gAc	p.A193D	TKT_ENST00000423525.2_Missense_Mutation_p.A193D|TKT_ENST00000423516.1_Missense_Mutation_p.A201D|TKT_ENST00000296289.6_Missense_Mutation_p.A146D|TKT_ENST00000461139.1_5'Flank			P29401	TKT_HUMAN	transketolase	193					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CTGCAGTGGGGCCGGGTCACT	0.597																																					Colon(133;1506 2347 35238 42177)												0													87	90	89					3																	53269050		2203	4300	6503	SO:0001583	missense	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.578C>A	3.37:g.53269050G>T	ENSP00000417773:p.Ala193Asp		A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.A193D	ENST00000462138.1	37	c.578	CCDS2871.1	3	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579453	0.65878	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.54	4.63	0.57726	Transketolase, N-terminal (1);	0.195433	0.53938	D	0.000054	T	0.51941	0.1704	M	0.76433	2.335	0.54753	D	0.999982	D;D;P	0.56968	0.978;0.974;0.936	D;D;D	0.78314	0.98;0.991;0.981	T	0.56025	-0.8047	10	0.87932	D	0	13.769	16.4639	0.84072	0.0:0.1306:0.8694:0.0	.	201;110;193	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	D	193;193;201;146;27	ENSP00000417773:A193D;ENSP00000405455:A193D;ENSP00000391481:A201D;ENSP00000296289:A146D	ENSP00000296289:A146D	A	-	2	0	TKT	53244090	0.999000	0.42202	0.598000	0.28837	0.099000	0.18886	8.003000	0.88520	2.606000	0.88127	0.655000	0.94253	GCC	TKT	-	pfam_Transketolase_N,pfam_DH_E1		0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKT	HGNC	protein_coding	OTTHUMT00000350356.1	G			53269050	-1	no_errors	ENST00000423525	ensembl	human	known	70_37	missense	SNP	0.925	T	T	53269050	G	T	53269050	3	4	184	1	0	0	0	0	1	0	0	0	15964	1203	42	4	1333	4	TKT	3	53269050	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	3329194	53269050	144753380	29	34171										
C3orf63	23272	genome.wustl.edu	37	chr3	56667374	56667374	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	agccgaagtggaatgctgctCatcagagttggtatctttca	11	8	4	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:56667374C>A	ENST00000493960.2	-	18	3455	c.3445G>T	c.(3445-3447)Gag>Tag	p.E1149*	FAM208A_ENST00000431842.2_Nonsense_Mutation_p.E712*|FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E1088*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1149							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAATGCTGCTCATCAGAGTTG	0.418																																																	0													166	156	159					3																	56667374		2203	4300	6503	SO:0001587	stop_gained	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3445G>T	3.37:g.56667374C>A	ENSP00000417509:p.Glu1149*		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	pfam_DUF3715	p.E1088*	ENST00000493960.2	37	c.3262	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	C	43	10.377506	0.99394	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	.	.	.	5.71	5.71	0.89125	.	0.177336	0.40144	N	0.001172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-5.9043	20.2245	0.98337	0.0:1.0:0.0:0.0	.	.	.	.	X	712;1149;1088	.	ENSP00000347845:E1088X	E	-	1	0	C3orf63	56642414	0.987000	0.35691	0.984000	0.44739	0.980000	0.70556	2.776000	0.47709	2.861000	0.98227	0.650000	0.86243	GAG	FAM208A	-	NULL		0.418	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	C	NM_015224		56667374	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	56667374	C	A	56667374	4	1	184	1	0	0	0	0	0	1	0	0	2244	835	29	3	1655	3	C3orf63	3	56667374	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	3398324	56667374	141355056	30	34172										
TMF1	7110	genome.wustl.edu	37	chr3	69101209	69101209	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gggcctgcttagcgaagctgGagagctgggaggcgttgaac	18	8	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:69101209G>C	ENST00000398559.2	-	1	245	c.29C>G	c.(28-30)tCc>tGc	p.S10C	TMF1_ENST00000543976.1_Missense_Mutation_p.S10C|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	10					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGCGAAGCTGGAGAGCTGGGA	0.642																																																	0													63	66	65					3																	69101209		1932	4153	6085	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.29C>G	3.37:g.69101209G>C	ENSP00000381567:p.Ser10Cys		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.S10C	ENST00000398559.2	37	c.29	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.315967	0.95655	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.26067	1.77;1.76	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.54523	-0.8281	10	0.66056	D	0.02	-5.7605	19.3409	0.94340	0.0:0.0:1.0:0.0	.	10;10	P82094-2;P82094	.;TMF1_HUMAN	C	10	ENSP00000381567:S10C;ENSP00000438706:S10C	ENSP00000348582:S10C	S	-	2	0	TMF1	69183899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.203000	0.95033	2.633000	0.89246	0.591000	0.81541	TCC	TMF1	-	NULL		0.642	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	G	NM_007114		69101209	-1	no_errors	ENST00000543976	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69101209	G	C	69101209	3	2	184	1	0	0	0	0	1	0	0	0	16258	1174	41	1	3320	1	TMF1	3	69101209	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	12433835	69101209	128921221	31	34173										
DIRC2	84925	genome.wustl.edu	37	chr3	122514354	122514354	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	atcggcttcctgccctgcttCgcgttcatgtggctcctgga	11	14	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:122514354C>T	ENST00000261038.5	+	1	713	c.315C>T	c.(313-315)ttC>ttT	p.F105F	HSPBAP1_ENST00000465044.1_5'Flank|HSPBAP1_ENST00000306103.2_5'Flank|HSPBAP1_ENST00000383659.1_5'Flank	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	105					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGCCCTGCTTCGCGTTCATGT	0.706																																																	0													18	20	19					3																	122514354		2202	4299	6501	SO:0001819	synonymous_variant	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.315C>T	3.37:g.122514354C>T			A8K561|Q8NBX9	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.F105	ENST00000261038.5	37	c.315	CCDS3018.1	3																																																																																			DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.706	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122514354	1	no_errors	ENST00000261038	ensembl	human	known	70_37	silent	SNP	1.000	T	T	122514354	C	T	122514354	2	4	184	1	0	0	0	0	0	0	0	1	4544	883	31	1		1	DIRC2	3	122514354	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	53413145	122514354	75508076	32	34174										
TRPC1	7220	genome.wustl.edu	37	chr3	142522838	142522838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggttcattggcacctgctttGctttgttctggtatattttc	9	8	2	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:142522838G>T	ENST00000476941.1	+	11	2263	c.1777G>T	c.(1777-1779)Gct>Tct	p.A593S	TRPC1_ENST00000273482.6_Missense_Mutation_p.A559S|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	593					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CACCTGCTTTGCTTTGTTCTG	0.348																																																	0													98	90	93					3																	142522838		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1777G>T	3.37:g.142522838G>T	ENSP00000419313:p.Ala593Ser		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.A593S	ENST00000476941.1	37	c.1777	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347560	0.41599	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98474	-4.95;-4.95	5.33	5.33	0.75918	Ion transport (1);	0.050574	0.85682	D	0.000000	D	0.95743	0.8615	N	0.10664	0.02	0.80722	D	1	P;P;B	0.52463	0.889;0.953;0.34	P;P;B	0.54174	0.663;0.744;0.237	D	0.93256	0.6639	10	0.05525	T	0.97	-25.0447	19.3994	0.94621	0.0:0.0:1.0:0.0	.	559;593;559	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	S	593;559;112	ENSP00000419313:A593S;ENSP00000273482:A559S	ENSP00000273482:A559S	A	+	1	0	TRPC1	144005528	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.546000	0.98097	2.654000	0.90174	0.650000	0.86243	GCT	TRPC1	-	pfam_Ion_trans_dom,tigrfam_TRP_channel		0.348	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	G	NM_003304		142522838	1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	1.000	T	T	142522838	G	T	142522838	3	4	184	1	0	0	0	0	1	0	0	0	16609	1319	46	4	1713	4	TRPC1	3	142522838	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	20008484	142522838	55499592	33	34175										
SI	6476	genome.wustl.edu	37	chr3	164700184	164700184	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	taacctctcttcaatatagtGcttgttaaggtggtctataa	7	7	3	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:164700184G>T	ENST00000264382.3	-	47	5324	c.5262C>A	c.(5260-5262)agC>agA	p.S1754R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1754	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			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)|Scopolamine(DB00747)	TCAATATAGTGCTTGTTAAGG	0.323										HNSCC(35;0.089)																																							0													102	100	101					3																	164700184		2202	4300	6502	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5262C>A	3.37:g.164700184G>T	ENSP00000264382:p.Ser1754Arg		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.S1754R	ENST00000264382.3	37	c.5262	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	4.595	0.110654	0.08780	.	.	ENSG00000090402	ENST00000264382	D	0.89485	-2.52	4.56	1.7	0.24286	.	0.217894	0.47852	D	0.000206	D	0.85531	0.5718	M	0.84683	2.71	0.31560	N	0.657661	P	0.35982	0.531	B	0.30646	0.118	T	0.80266	-0.1454	10	0.26408	T	0.33	.	6.3466	0.21353	0.3157:0.0:0.6843:0.0	.	1754	P14410	SUIS_HUMAN	R	1754	ENSP00000264382:S1754R	ENSP00000264382:S1754R	S	-	3	2	SI	166182878	0.998000	0.40836	0.964000	0.40570	0.160000	0.22226	0.469000	0.22067	0.618000	0.30179	0.591000	0.81541	AGC	SI	-	NULL		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164700184	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.964	T	T	164700184	G	T	164700184	3	4	184	1	0	0	0	0	1	0	0	0	14327	1310	46	4	229	4	SI	3	164700184	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	22177346	164700184	33322246	34	34176										
C3orf70	285382	genome.wustl.edu	37	chr3	184870595	184870595	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aaccccgctccgacgccggcGaggccgccgcactcatttcc	10	20	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:184870595G>C	ENST00000335012.2	-	1	207	c.17C>G	c.(16-18)tCg>tGg	p.S6W		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16	17	17					3																	184870595		2196	4292	6488	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>G	3.37:g.184870595G>C	ENSP00000334974:p.Ser6Trp		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6W	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453691	0.12283	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.22936	0.0554	N	0.08118	0	0.38949	D	0.958313	P	0.37688	0.605	B	0.28849	0.095	T	0.18023	-1.0350	9	0.48119	T	0.1	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	W	6	.	ENSP00000334974:S6W	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	G	NM_001025266		184870595	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	missense	SNP	0.804	C	C	184870595	G	C	184870595	3	2	184	1	0	0	0	0	1	0	0	0	2247	1059	37	1	743	1	C3orf70	3	184870595	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	20170411	184870595	13151835	35	34177										
IGF2BP2	10644	genome.wustl.edu	37	chr3	185375096	185375096	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tgatagaggctccggcgaatCtcgccagctgtttgatgtgt	13	9	1	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:185375096C>T	ENST00000382199.2	-	12	1459	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.R398K|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.R461K|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.R412K	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	455	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCCGGCGAATCTCGCCAGCTG	0.592																																																	0													65	59	61					3																	185375096		2203	4300	6503	SO:0001583	missense	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1364G>A	3.37:g.185375096C>T	ENSP00000371634:p.Arg455Lys		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.R455K	ENST00000382199.2	37	c.1364	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898795	0.72639	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.22	5.22	0.72569	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.052608	0.64402	D	0.000001	T	0.28896	0.0717	L	0.33485	1.01	0.49915	D	0.999833	B;B;B;B;B;B	0.33171	0.238;0.107;0.4;0.4;0.026;0.066	B;B;B;B;B;B	0.35470	0.108;0.093;0.203;0.203;0.032;0.106	T	0.05178	-1.0901	10	0.44086	T	0.13	-8.9089	17.9191	0.88961	0.0:1.0:0.0:0.0	.	349;392;398;461;412;455	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	K	455;398;461;412	ENSP00000371634:R455K;ENSP00000413787:R398K;ENSP00000410242:R461K;ENSP00000320204:R412K	ENSP00000320204:R412K	R	-	2	0	IGF2BP2	186857790	0.847000	0.29606	0.273000	0.24645	0.995000	0.86356	6.011000	0.70760	2.586000	0.87340	0.655000	0.94253	AGA	IGF2BP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.592	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	C	NM_006548		185375096	-1	no_errors	ENST00000382199	ensembl	human	known	70_37	missense	SNP	0.990	T	T	185375096	C	T	185375096	3	4	184	1	0	0	0	0	1	0	0	0	7594	913	32	1	455	1	IGF2BP2	3	185375096	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	504501	185375096	12647334	36	34178										
GP5	2814	genome.wustl.edu	37	chr3	194117596	194117596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggcgggccccgggggcccggGcactccgcgtcaccccccgg	17	20	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr3:194117596G>A	ENST00000401815.1	-	1	1487	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	GP5_ENST00000323007.3_Silent_p.C472C			P40197	GPV_HUMAN	glycoprotein V (platelet)	472	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		gggggcccgggcACTCCGCGT	0.771																																																	0													9	12	11					3																	194117596		2049	4098	6147	SO:0001819	synonymous_variant	2814			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1416C>T	3.37:g.194117596G>A			D1MER9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.C472	ENST00000401815.1	37	c.1416	CCDS3307.1	3																																																																																			GP5	-	smart_Cys-rich_flank_reg_C		0.771	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP5	HGNC	protein_coding	OTTHUMT00000317710.1	G	NM_004488		194117596	-1	no_errors	ENST00000323007	ensembl	human	known	70_37	silent	SNP	0.360	A	A	194117596	G	A	194117596	2	1	184	1	0	0	0	0	0	0	0	1	6602	1195	42	4		4	GP5	3	194117596	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	8742500	194117596	3904834	37	34179										
FRYL	285527	genome.wustl.edu	37	chr4	48552714	48552714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tccactgtaaatgtccaggtGcacatagctatgggaatgat	10	8	0	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:48552714G>T	ENST00000503238.1	-	35	4527	c.4528C>A	c.(4528-4530)Cac>Aac	p.H1510N	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.H1510N|FRYL_ENST00000537810.1_Missense_Mutation_p.H1510N|FRYL_ENST00000358350.4_Missense_Mutation_p.H1510N|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATGTCCAGGTGCACATAGCTA	0.408																																																	0													151	138	142					4																	48552714		1949	4140	6089	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4528C>A	4.37:g.48552714G>T	ENSP00000426064:p.His1510Asn		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H1510N	ENST00000503238.1	37	c.4528	CCDS43227.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.65|14.65	2.599533|2.599533	0.46318|0.46318	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.|T;T;T;T	.|0.43294	.|2.02;2.02;2.02;0.95	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52725|0.52725	0.1752|0.1752	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.61080	.|0.851;0.981;0.981;0.989	.|P;D;D;D	.|0.72982	.|0.775;0.954;0.954;0.979	T|T	0.38520|0.38520	-0.9657|-0.9657	5|10	.|0.19147	.|T	.|0.46	.|.	19.4662|19.4662	0.94943|0.94943	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1510;341;1510;1510	.|F2Z2S2;Q6ZR29;O94915;F5GX82	.|.;.;FRYL_HUMAN;.	E|N	380|1510	.|ENSP00000426064:H1510N;ENSP00000351113:H1510N;ENSP00000441114:H1510N;ENSP00000421584:H1510N	.|ENSP00000351113:H1510N	A|H	-|-	2|1	0|0	FRYL|FRYL	48247471|48247471	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.119000|0.119000	0.20118|0.20118	9.194000|9.194000	0.94962|0.94962	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	GCA|CAC	FRYL	-	superfamily_ARM-type_fold		0.408	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	G			48552714	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48552714	G	T	48552714	3	4	184	1	0	0	0	0	1	0	0	0	6082	1319	46	4	4621	4	FRYL	4	48552714	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		48552714	142601562	38	34180										
SEC31A	22872	genome.wustl.edu	37	chr4	83793119	83793119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggcatggttttccaggacacGaagtggagaggaagcaaatc	14	7	0	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:83793119G>A	ENST00000395310.2	-	7	942	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000443462.2_Missense_Mutation_p.R249C|SEC31A_ENST00000508479.1_Missense_Mutation_p.R254C|SEC31A_ENST00000500777.2_Missense_Mutation_p.R254C|SEC31A_ENST00000348405.4_Missense_Mutation_p.R254C|SEC31A_ENST00000326950.5_Missense_Mutation_p.R254C|SEC31A_ENST00000513858.1_Missense_Mutation_p.R254C|SEC31A_ENST00000448323.1_Missense_Mutation_p.R254C|SEC31A_ENST00000508502.1_Missense_Mutation_p.R254C|SEC31A_ENST00000505984.1_Missense_Mutation_p.R254C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Missense_Mutation_p.R254C|SEC31A_ENST00000355196.2_Missense_Mutation_p.R254C|SEC31A_ENST00000432794.1_Missense_Mutation_p.R254C|SEC31A_ENST00000311785.7_Missense_Mutation_p.R254C|SEC31A_ENST00000505472.1_Missense_Mutation_p.R254C	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	254	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCAGGACACGAAGTGGAGAG	0.463																																																	0													117	93	101					4																	83793119		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.760C>T	4.37:g.83793119G>A	ENSP00000378721:p.Arg254Cys		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R254C	ENST00000395310.2	37	c.760	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497536	0.85069	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000503058	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64991	1.18;1.04;2.21;1.52;1.07;2.09;2.21;1.18;1.07;0.96;1.04;2.21;2.21;2.18;2.1;-0.13	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.167745	0.52532	D	0.000063	T	0.80243	0.4587	M	0.77406	2.37	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.988;0.996;0.998;0.999;0.999;0.984;0.999;0.999;0.994	P;P;P;P;D;P;P;P;P	0.66847	0.893;0.863;0.804;0.863;0.947;0.663;0.886;0.885;0.846	T	0.82018	-0.0665	10	0.87932	D	0	-3.4617	19.718	0.96131	0.0:0.0:1.0:0.0	.	249;254;254;254;254;254;254;254;254	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	C	254;254;254;249;254;254;254;254;254;254;254;254;254;254;254;225	ENSP00000337602:R254C;ENSP00000426886:R254C;ENSP00000378721:R254C;ENSP00000408027:R249C;ENSP00000426569:R254C;ENSP00000407944:R254C;ENSP00000400926:R254C;ENSP00000325087:R254C;ENSP00000309070:R254C;ENSP00000421633:R254C;ENSP00000421464:R254C;ENSP00000424635:R254C;ENSP00000347329:R254C;ENSP00000424451:R254C;ENSP00000425999:R254C;ENSP00000425056:R225C	ENSP00000309070:R254C	R	-	1	0	SEC31A	84012143	1.000000	0.71417	0.952000	0.39060	0.877000	0.50540	7.344000	0.79328	2.645000	0.89757	0.585000	0.79938	CGT	SEC31A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.463	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	G	NM_016211		83793119	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83793119	G	A	83793119	3	1	184	1	0	0	0	0	1	0	0	0	14028	1058	37	1	2986	1	SEC31A	4	83793119	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	35240405	83793119	107361157	39	34181										
RBM46	166863	genome.wustl.edu	37	chr4	155718042	155718042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aatggacaaaggaaatttggCggtcctcctccaggtgtgga	13	8	0	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:155718042C>T	ENST00000281722.3	+	2	373	c.138C>T	c.(136-138)ggC>ggT	p.G46G	RBM46_ENST00000514866.1_Silent_p.G46G|RBM46_ENST00000510397.1_Silent_p.G46G	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	46							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GGAAATTTGGCGGTCCTCCTC	0.378																																																	0													109	105	106					4																	155718042		2203	4300	6503	SO:0001819	synonymous_variant	166863			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.138C>T	4.37:g.155718042C>T			B3KWU8|B4DZ27	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G46	ENST00000281722.3	37	c.138	CCDS3790.1	4																																																																																			RBM46	-	tigrfam_HnRNP_R/Q_splicing_fac		0.378	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	HGNC	protein_coding	OTTHUMT00000365259.1	C	NM_144979		155718042	1	no_errors	ENST00000281722	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155718042	C	T	155718042	2	4	184	1	0	0	0	0	0	0	0	1	13170	755	27	2		2	RBM46	4	155718042	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	71924923	155718042	35436234	40	34182										
TRIM61	391712	genome.wustl.edu	37	chr4	165890861	165890861	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gtcaaaacctgattatgcttCttacacacatgcttctcttc	4	12	3	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:165890861C>G	ENST00000329314.5	-	3	906	c.294G>C	c.(292-294)aaG>aaC	p.K98N		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	98						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		GATTATGCTTCTTACACACAT	0.433																																																	0													6	7	7					4																	165890861		1681	3301	4982	SO:0001583	missense	391712				CCDS34093.1	4q32.3	2013-01-09	2011-01-25			ENSG00000183439		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24339	protein-coding gene	gene with protein product			"ring finger protein 35", "tripartite motif-containing 61"	RNF35			Standard	NM_001012414		Approved		uc003iqw.3	Q5EBN2		ENST00000329314.5:c.294G>C	4.37:g.165890861C>G	ENSP00000332288:p.Lys98Asn			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.K98N	ENST00000329314.5	37	c.294	CCDS34093.1	4	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422795	0.43020	.	.	ENSG00000183439	ENST00000329314	T	0.41400	1.0	3.22	-2.38	0.06622	Zinc finger, B-box (2);	.	.	.	.	T	0.44767	0.1309	L	0.61036	1.89	0.20638	N	0.999876	B	0.34255	0.445	P	0.44422	0.449	T	0.49744	-0.8907	9	0.39692	T	0.17	.	9.0083	0.36127	0.0:0.3578:0.0:0.6422	.	98	Q5EBN2	TRI61_HUMAN	N	98	ENSP00000332288:K98N	ENSP00000332288:K98N	K	-	3	2	TRIM61	166110311	0.000000	0.05858	0.010000	0.14722	0.329000	0.28539	-1.100000	0.03339	-0.762000	0.04664	0.580000	0.79431	AAG	TRIM61	-	pfam_Znf_B-box,pfscan_Znf_B-box		0.433	TRIM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM61	HGNC	protein_coding	OTTHUMT00000364331.1	C	XM_373038		165890861	-1	no_errors	ENST00000329314	ensembl	human	known	70_37	missense	SNP	0.833	G	G	165890861	C	G	165890861	3	3	184	1	0	0	0	0	1	0	0	0	16567	912	32	1	343	1	TRIM61	4	165890861	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	10172819	165890861	25263415	41	34183										
CPE	1363	genome.wustl.edu	37	chr4	166403452	166403452	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggatattccttttgtgctttCtgccaatctccatggaggag	10	9	2	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:166403452C>A	ENST00000402744.4	+	4	1011	c.731C>A	c.(730-732)tCt>tAt	p.S244Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	244					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTTGTGCTTTCTGCCAATCTC	0.388																																																	0													166	147	153					4																	166403452		2203	4300	6503	SO:0001583	missense	1363			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.731C>A	4.37:g.166403452C>A	ENSP00000386104:p.Ser244Tyr		A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.S244Y	ENST00000402744.4	37	c.731	CCDS3810.1	4	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094249	0.76870	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66945	-0.5795	10	0.87932	D	0	-5.5733	19.2266	0.93820	0.0:1.0:0.0:0.0	.	244	P16870	CBPE_HUMAN	Y	132;244;208;132;132	ENSP00000424830:S132Y;ENSP00000386104:S244Y;ENSP00000416601:S132Y;ENSP00000423699:S132Y	ENSP00000261510:S208Y	S	+	2	0	CPE	166622902	1.000000	0.71417	0.999000	0.59377	0.493000	0.33554	5.738000	0.68613	2.531000	0.85337	0.650000	0.86243	TCT	CPE	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.388	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPE	HGNC	protein_coding	OTTHUMT00000317094.2	C	NM_001873		166403452	1	no_errors	ENST00000402744	ensembl	human	known	70_37	missense	SNP	1.000	A	A	166403452	C	A	166403452	3	1	184	1	0	0	0	0	1	0	0	0	3804	913	32	3	745	3	CPE	4	166403452	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	512591	166403452	24750824	42	34184										
NEIL3	55247	genome.wustl.edu	37	chr4	178274470	178274470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctctccttccagattcagtgCtcaagagtgaagaaaattct	7	10	4	4			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr4:178274470C>A	ENST00000264596.3	+	8	1166	c.1048C>A	c.(1048-1050)Ctc>Atc	p.L350I	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	350					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AGATTCAGTGCTCAAGAGTGA	0.318								Base excision repair (BER), DNA glycosylases																																									0													71	73	72					4																	178274470		2203	4300	6503	SO:0001583	missense	55247			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1048C>A	4.37:g.178274470C>A	ENSP00000264596:p.Leu350Ile		Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.L350I	ENST00000264596.3	37	c.1048	CCDS3828.1	4	.	.	.	.	.	.	.	.	.	.	C	0.225	-1.025175	0.02061	.	.	ENSG00000109674	ENST00000264596	T	0.04275	3.66	5.41	-2.14	0.07123	.	0.782790	0.11826	N	0.525716	T	0.04003	0.0112	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46247	-0.9205	10	0.19590	T	0.45	0.4886	0.6794	0.00872	0.2951:0.3119:0.1726:0.2205	.	350	Q8TAT5	NEIL3_HUMAN	I	350	ENSP00000264596:L350I	ENSP00000264596:L350I	L	+	1	0	NEIL3	178511464	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.224000	0.09164	-0.118000	0.11851	-1.095000	0.02154	CTC	NEIL3	-	NULL		0.318	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1	C	NM_018248		178274470	1	no_errors	ENST00000264596	ensembl	human	known	70_37	missense	SNP	0.000	A	A	178274470	C	A	178274470	3	1	184	1	0	0	0	0	1	0	0	0	10344	797	28	4	1078	4	NEIL3	4	178274470	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	11871018	178274470	12879806	43	34185										
CEP72	55722	genome.wustl.edu	37	chr5	624663	624663	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aggactcactcgactccaaaGagagcgtcccagcttctttg	9	13	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr5:624663G>C	ENST00000264935.5	+	4	571	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	CEP72_ENST00000444221.1_Missense_Mutation_p.E161Q	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	161					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGACTCCAAAGAGAGCGTCCC	0.537																																																	0													68	63	65					5																	624663		2203	4300	6503	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.481G>C	5.37:g.624663G>C	ENSP00000264935:p.Glu161Gln		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.E161Q	ENST00000264935.5	37	c.481	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	G	8.621	0.891453	0.17613	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.18657	3.09;2.2	5.54	2.79	0.32731	.	0.485342	0.21011	N	0.081699	T	0.06325	0.0163	N	0.02247	-0.625	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.25641	-1.0126	10	0.25751	T	0.34	-4.1691	1.6444	0.02758	0.1202:0.3361:0.3091:0.2346	.	161	Q9P209	CEP72_HUMAN	Q	161	ENSP00000264935:E161Q;ENSP00000392052:E161Q	ENSP00000264935:E161Q	E	+	1	0	CEP72	677663	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.077000	0.14738	0.822000	0.34565	0.655000	0.94253	GAG	CEP72	-	NULL		0.537	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	G	NM_018140		624663	1	no_errors	ENST00000264935	ensembl	human	known	70_37	missense	SNP	0.000	C	C	624663	G	C	624663	3	2	184	1	0	0	0	0	1	0	0	0	3265	943	33	1	495	1	CEP72	5	624663	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		624663	180290597	44	34186										
KIAA0947	23379	genome.wustl.edu	37	chr5	5476114	5476114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tgtggcctgtgatggataaaTggataaaatacagaaaagga	12	3	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr5:5476114T>C	ENST00000296564.7	+	17	6664	c.6442T>C	c.(6442-6444)Tgg>Cgg	p.W2148R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2148					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATGGATAAATGGATAAAATA	0.318																																																	0													115	108	110					5																	5476114		1862	4109	5971	SO:0001583	missense	23379																														ENST00000296564.7:c.6442T>C	5.37:g.5476114T>C	ENSP00000296564:p.Trp2148Arg		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.W2148R	ENST00000296564.7	37	c.6442	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695093	0.68386	.	.	ENSG00000164151	ENST00000296564	T	0.60171	0.21	5.49	5.49	0.81192	.	.	.	.	.	T	0.72053	0.3413	M	0.61703	1.905	0.47737	D	0.999505	D	0.89917	1.0	D	0.91635	0.999	T	0.75031	-0.3461	9	0.87932	D	0	-7.6321	11.9795	0.53111	0.0:0.0:0.0:1.0	.	2148	Q9Y2F5	K0947_HUMAN	R	2148	ENSP00000296564:W2148R	ENSP00000296564:W2148R	W	+	1	0	KIAA0947	5529114	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.635000	0.67841	2.080000	0.62538	0.528000	0.53228	TGG	KIAA0947	-	NULL		0.318	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	T			5476114	1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5476114	T	C	5476114	3	2	184	1	0	0	0	0	1	0	0	0	8222	1464	51	5	6508	5	KIAA0947	5	5476114	Missense_Mutation	SNP	T	TCGA-Q1-A6DW-01A-11D-A32I-09	4851451	5476114	175439146	45	34187										
CDO1	1036	genome.wustl.edu	37	chr5	115152070	115152070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	cagatcagccagggtccgtgGcttcagcacttcggtctgtt	12	12	3	1	rs140922998		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr5:115152070G>T	ENST00000250535.4	-	1	581	c.25C>A	c.(25-27)Cca>Aca	p.P9T	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	9					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	AGGGTCCGTGGCTTCAGCACT	0.632																																																	0													147	144	145					5																	115152070		2202	4300	6502	SO:0001583	missense	1036				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"cysteine dioxygenase, type I"			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.25C>A	5.37:g.115152070G>T	ENSP00000250535:p.Pro9Thr		B2RAK4|P78513|Q6FHZ8|Q8TB64	Missense_Mutation	SNP	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.P9T	ENST00000250535.4	37	c.25	CCDS4121.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174021	0.78452	.	.	ENSG00000129596	ENST00000250535	T	0.41065	1.01	5.3	5.3	0.74995	Cupin, RmlC-type (1);	0.056264	0.64402	D	0.000001	T	0.41465	0.1160	L	0.45352	1.415	0.48901	D	0.999724	P	0.52170	0.951	P	0.46362	0.514	T	0.14420	-1.0473	10	0.33940	T	0.23	-11.4463	14.9449	0.71023	0.0:0.1849:0.8151:0.0	.	9	Q16878	CDO1_HUMAN	T	9	ENSP00000250535:P9T	ENSP00000250535:P9T	P	-	1	0	CDO1	115179969	1.000000	0.71417	0.997000	0.53966	0.668000	0.39293	5.616000	0.67709	2.639000	0.89480	0.650000	0.86243	CCA	CDO1	-	pfam_Cys_dOase_I,superfamily_RmlC_Cupin		0.632	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	HGNC	protein_coding	OTTHUMT00000250853.2	G	NM_001801		115152070	-1	no_errors	ENST00000250535	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115152070	G	T	115152070	3	4	184	1	0	0	0	0	1	0	0	0	3174	1203	42	4	597	4	CDO1	5	115152070	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	109675956	115152070	65763190	46	34188										
PCDHA11	56138	genome.wustl.edu	37	chr5	140249735	140249735	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aacgataactctcctgaagtCgccgtgacttccttgtccct	7	14	1	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr5:140249735C>T	ENST00000398640.2	+	1	1047	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGAAGTCGCCGTGACTT	0.547																																																	0													66	72	70					5																	140249735		2203	4300	6503	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1047C>T	5.37:g.140249735C>T			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V349	ENST00000398640.2	37	c.1047	CCDS47284.1	5																																																																																			PCDHA11	-	superfamily_Cadherin-like,pfscan_Cadherin		0.547	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	C	NM_018902		140249735	1	no_errors	ENST00000398640	ensembl	human	known	70_37	silent	SNP	0.000	T	T	140249735	C	T	140249735	2	4	184	1	0	0	0	0	0	0	0	1	11545	871	31	1		1	PCDHA11	5	140249735	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	25097665	140249735	40665525	47	34189										
BAT2	7916	genome.wustl.edu	37	chr6	31605302	31605302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	acctcgagaagggccctcccGacgggcagaggagcctgggt	16	13	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:31605302G>A	ENST00000376033.2	+	31	6647	c.6413G>A	c.(6412-6414)cGa>cAa	p.R2138Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2138Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2138						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGCCCTCCCGACGGGCAGAG	0.672																																																	0													52	65	61					6																	31605302		1510	2709	4219	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6413G>A	6.37:g.31605302G>A	ENSP00000365201:p.Arg2138Gln		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.R2138Q	ENST00000376033.2	37	c.6413	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	5.936	0.356761	0.11239	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01981	4.52;4.52	5.69	3.9	0.45041	.	0.156571	0.30210	N	0.010160	T	0.00724	0.0024	N	0.19112	0.55	0.20764	N	0.99986	B	0.09022	0.002	B	0.04013	0.001	T	0.48514	-0.9029	10	0.87932	D	0	-3.3997	9.3236	0.37980	0.1707:0.0:0.8293:0.0	.	2138	P48634	PRC2A_HUMAN	Q	2130;2119;2138;2138;1363	ENSP00000365175:R2138Q;ENSP00000365201:R2138Q	ENSP00000365175:R2138Q	R	+	2	0	PRRC2A	31713281	0.689000	0.27690	0.826000	0.32828	0.027000	0.11550	2.971000	0.49248	1.422000	0.47177	-0.150000	0.13652	CGA	PRRC2A	-	NULL		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31605302	1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	0.410	A	A	31605302	G	A	31605302	3	1	184	1	0	0	0	0	1	0	0	0	1320	1058	37	1	6531	1	BAT2	6	31605302	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		31605302	139509765	48	34190										
SLC26A8	116369	genome.wustl.edu	37	chr6	35911729	35911729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	agtatgaatccataggatggCgtctcctctccactgaccat	8	12	2	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:35911729C>T	ENST00000490799.1	-	20	3214	c.2861G>A	c.(2860-2862)cGc>cAc	p.R954H	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R954H|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R849H	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CATAGGATGGCGTCTCCTCTC	0.488																																																	0													186	169	175					6																	35911729		2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2861G>A	6.37:g.35911729C>T	ENSP00000417638:p.Arg954His			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.R954H	ENST00000490799.1	37	c.2861	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891600	0.33442	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95137	-3.29;-3.62;-3.29	4.35	-6.02	0.02192	.	2.073370	0.02019	N	0.047629	T	0.76147	0.3947	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.06405	0.001;0.001;0.002	T	0.70887	-0.4750	10	0.25106	T	0.35	.	14.7054	0.69186	0.0:0.1544:0.0:0.8456	.	954;849;536	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	H	954;849;954	ENSP00000417638:R954H;ENSP00000378100:R849H;ENSP00000347778:R954H	ENSP00000347778:R954H	R	-	2	0	SLC26A8	36019707	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.373000	0.01072	-1.390000	0.02087	-0.258000	0.10820	CGC	SLC26A8	-	NULL		0.488	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	C			35911729	-1	no_errors	ENST00000355574	ensembl	human	known	70_37	missense	SNP	0.000	T	T	35911729	C	T	35911729	3	4	184	1	0	0	0	0	1	0	0	0	14553	768	27	2	55	2	SLC26A8	6	35911729	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	4306427	35911729	135203338	49	34191										
GLP1R	2740	genome.wustl.edu	37	chr6	39034011	39034011	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctcctgttcctctacatcatCtacacggtgggctacgcact	7	15	3	0	rs199790397		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:39034011C>T	ENST00000373256.4	+	5	484	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	147					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.I147I(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TCTACATCATCTACACGGTGG	0.617																																																	1	Substitution - coding silent(1)	large_intestine(1)											155	115	129					6																	39034011		2203	4300	6503	SO:0001819	synonymous_variant	2740				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.441C>T	6.37:g.39034011C>T			Q2M229|Q99669	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.I147	ENST00000373256.4	37	c.441	CCDS4839.1	6																																																																																			GLP1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like		0.617	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	C			39034011	1	no_errors	ENST00000373256	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39034011	C	T	39034011	2	4	184	1	0	0	0	0	0	0	0	1	6471	903	32	1		1	GLP1R	6	39034011	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	3122282	39034011	132081056	50	34192										
AKD1	221264	genome.wustl.edu	37	chr6	109837248	109837248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ccgagctccattaatggaaaTtattggtatcaaatacctct	6	9	2	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:109837248T>C	ENST00000424296.2	-	31	3953	c.3877A>G	c.(3877-3879)Att>Gtt	p.I1293V		NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1293					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTAATGGAAATTATTGGTATC	0.328																																																	0													193	161	171					6																	109837248		692	1591	2283	SO:0001583	missense	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3877A>G	6.37:g.109837248T>C	ENSP00000410186:p.Ile1293Val		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.I1293V	ENST00000424296.2	37	c.3877	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	T	5.917	0.353305	0.11182	.	.	ENSG00000155085	ENST00000424296	T	0.61627	0.09	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.23330	0.0564	N	0.22421	0.69	0.80722	D	1	B	0.21821	0.061	B	0.18561	0.022	T	0.13845	-1.0494	8	.	.	.	.	9.1226	0.36797	0.0:0.1407:0.0:0.8593	.	1293	Q5TCS8	AKD1_HUMAN	V	1293	ENSP00000410186:I1293V	.	I	-	1	0	AKD1	109943941	0.661000	0.27430	0.499000	0.27577	0.128000	0.20619	0.906000	0.28517	2.188000	0.69820	0.528000	0.53228	ATT	AKD1	-	smart_AAA+_ATPase		0.328	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		T	NM_001145128		109837248	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	missense	SNP	0.460	C	C	109837248	T	C	109837248	3	2	184	1	0	0	0	0	1	0	0	0	460	1493	52	5	1902	5	AKD1	6	109837248	Missense_Mutation	SNP	T	TCGA-Q1-A6DW-01A-11D-A32I-09	70803237	109837248	61277819	51	34193										
PNLDC1	154197	genome.wustl.edu	37	chr6	160240375	160240375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gcactccccaaacgtcaactGcctgctccagtaagtgacag	8	15	1	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr6:160240375G>T	ENST00000610273.1	+	18	1661	c.1490G>T	c.(1489-1491)tGc>tTc	p.C497F	PNLDC1_ENST00000392167.3_Missense_Mutation_p.C508F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	497						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AACGTCAACTGCCTGCTCCAG	0.622																																																	0													82	61	68					6																	160240375		2203	4300	6503	SO:0001583	missense	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1490G>T	6.37:g.160240375G>T	ENSP00000476448:p.Cys497Phe		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.C497F	ENST00000610273.1	37	c.1490	CCDS5271.1	6	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675039	0.47781	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.86	5.86	0.93980	.	0.079994	0.56097	D	0.000037	T	0.57548	0.2061	L	0.29908	0.895	0.43503	D	0.995755	D;D	0.63880	0.993;0.989	P;P	0.61132	0.884;0.768	T	0.60984	-0.7154	9	0.66056	D	0.02	.	18.3634	0.90383	0.0:0.0:1.0:0.0	.	508;497	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	F	497;508	.	ENSP00000275275:C497F	C	+	2	0	PNLDC1	160160365	1.000000	0.71417	0.391000	0.26233	0.018000	0.09664	5.944000	0.70219	2.767000	0.95098	0.561000	0.74099	TGC	PNLDC1	-	NULL		0.622	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		G	NM_173516		160240375	1	no_errors	ENST00000275275	ensembl	human	known	70_37	missense	SNP	0.563	T	T	160240375	G	T	160240375	3	4	184	1	0	0	0	0	1	0	0	0	12172	1319	46	4	1556	4	PNLDC1	6	160240375	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	50403127	160240375	10874692	52	34194										
PDE1C	5137	genome.wustl.edu	37	chr7	31920462	31920462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctctctctaattgtttgaccAaagaccgtaatctagaaaaa	5	9	3	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:31920462A>G	ENST00000396191.1	-	3	595	c.140T>C	c.(139-141)tTg>tCg	p.L47S	PDE1C_ENST00000396184.3_Missense_Mutation_p.L47S|PDE1C_ENST00000396193.1_Missense_Mutation_p.L107S|PDE1C_ENST00000321453.7_Missense_Mutation_p.L47S|PDE1C_ENST00000396182.2_Missense_Mutation_p.L47S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	47					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTGTTTGACCAAAGACCGTAA	0.333																																																	0													118	114	115					7																	31920462		2203	4300	6503	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.140T>C	7.37:g.31920462A>G	ENSP00000379494:p.Leu47Ser		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.L47S	ENST00000396191.1	37	c.140	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415800	0.83449	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.80214	-1.35;-1.3;-1.3;-1.22;-1.22	5.43	5.43	0.79202	.	0.267304	0.38326	N	0.001736	D	0.88518	0.6458	M	0.69358	2.11	0.58432	D	0.999992	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.87578	0.947;0.973;0.998	D	0.89725	0.3922	10	0.87932	D	0	.	15.4276	0.75065	1.0:0.0:0.0:0.0	.	47;107;47	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	S	107;47;47;47;47	ENSP00000379496:L107S;ENSP00000379494:L47S;ENSP00000318105:L47S;ENSP00000379487:L47S;ENSP00000379485:L47S	ENSP00000318105:L47S	L	-	2	0	PDE1C	31886987	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.257000	0.95545	2.190000	0.69967	0.482000	0.46254	TTG	PDE1C	-	NULL		0.333	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	A			31920462	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31920462	A	G	31920462	3	3	184	1	0	0	0	0	1	0	0	0	11659	131	5	5	1824	5	PDE1C	7	31920462	Missense_Mutation	SNP	A	TCGA-Q1-A6DW-01A-11D-A32I-09		31920462	127218201	53	34195										
LRWD1	222229	genome.wustl.edu	37	chr7	102108530	102108530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ccagactggcggccttgaaaCggccagacgacgtcccactc	11	16	0	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:102108530C>T	ENST00000292616.5	+	6	852	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	234					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGCCTTGAAACGGCCAGACGA	0.687																																																	0													36	41	39					7																	102108530		2201	4298	6499	SO:0001583	missense	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.700C>T	7.37:g.102108530C>T	ENSP00000292616:p.Arg234Trp		A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R234W	ENST00000292616.5	37	c.700	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727439	0.48833	.	.	ENSG00000161036	ENST00000292616	T	0.62232	0.04	4.59	2.75	0.32379	.	0.442525	0.23975	N	0.042725	T	0.50497	0.1619	L	0.59436	1.845	0.09310	N	0.999999	B	0.27450	0.179	B	0.17722	0.019	T	0.46884	-0.9159	10	0.49607	T	0.09	-15.3876	5.0396	0.14452	0.209:0.6855:0.0:0.1055	.	234	Q9UFC0	LRWD1_HUMAN	W	234	ENSP00000292616:R234W	ENSP00000292616:R234W	R	+	1	2	LRWD1	101895535	0.996000	0.38824	0.152000	0.22495	0.770000	0.43624	1.783000	0.38664	1.259000	0.44117	0.462000	0.41574	CGG	LRWD1	-	NULL		0.687	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	HGNC	protein_coding	OTTHUMT00000349493.1	C	NM_152892		102108530	1	no_errors	ENST00000292616	ensembl	human	known	70_37	missense	SNP	0.149	T	T	102108530	C	T	102108530	3	4	184	1	0	0	0	0	1	0	0	0	9070	527	19	2	722	2	LRWD1	7	102108530	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	70188068	102108530	57030133	54	34196										
SSPO	23145	genome.wustl.edu	37	chr7	149513092	149513092	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gtttcgtgtgggggcggggaGcagctgcgctcccggcgctg	20	11	0	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:149513092G>T	ENST00000378016.2	+	0	10995							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGCGGGGAGCAGCTGCGCT	0.692																																																	0													18	24	22					7																	149513092		2046	4155	6201			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149513092G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.692	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149513092	1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	1.000	T	T	149513092	G	T	149513092	1	4	184	0	1	0	0	0	0	0	0	0	15219	962	34	4		4	SSPO	7	149513092	RNA	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	47404562	149513092	9625571	55	34197										
MLL3	58508	genome.wustl.edu	37	chr7	151877154	151877154	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctgtgaccccttctcctgtcGacctgcaatcttcttctgct	6	16	4	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr7:151877154G>A	ENST00000262189.6	-	37	7425	c.7207C>T	c.(7207-7209)Cga>Tga	p.R2403*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R2403*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2403					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTCTCCTGTCGACCTGCAATC	0.498																																																	0													244	215	225					7																	151877154		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7207C>T	7.37:g.151877154G>A	ENSP00000262189:p.Arg2403*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R2403*	ENST00000262189.6	37	c.7207	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	50	16.332672	0.99860	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.5	5.5	0.81552	.	0.000000	0.39985	N	0.001211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3908	0.94581	0.0:0.0:1.0:0.0	.	.	.	.	X	2403	.	ENSP00000262189:R2403X	R	-	1	2	MLL3	151508087	1.000000	0.71417	0.900000	0.35374	0.984000	0.73092	4.575000	0.60908	2.578000	0.87016	0.650000	0.86243	CGA	MLL3	-	NULL		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151877154	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.967	A	A	151877154	G	A	151877154	4	1	184	1	0	0	0	0	0	1	0	0	9645	1066	37	1	7620	1	MLL3	7	151877154	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	2364062	151877154	7261509	56	34198										
CSMD1	64478	genome.wustl.edu	37	chr8	3351195	3351195	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ttcccagcatcaccaaccgtCagggtgtcatagcctcgctc	8	16	3	0	rs56109797	byFrequency	TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:3351195C>T	ENST00000520002.1	-	12	1956	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	CSMD1_ENST00000602557.1_Silent_p.L467L|CSMD1_ENST00000539096.1_Silent_p.L466L|CSMD1_ENST00000537824.1_Silent_p.L466L|CSMD1_ENST00000602723.1_Silent_p.L467L|CSMD1_ENST00000400186.3_Silent_p.L467L|CSMD1_ENST00000542608.1_Silent_p.L466L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	467	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACCAACCGTCAGGGTGTCAT	0.498																																																	0													81	86	84					8																	3351195		2182	4298	6480	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1401G>A	8.37:g.3351195C>T			Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L467	ENST00000520002.1	37	c.1401		8																																																																																			CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3351195	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	silent	SNP	0.156	T	T	3351195	C	T	3351195	2	4	184	1	0	0	0	0	0	0	0	1	3949	813	29	1		1	CSMD1	8	3351195	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09		3351195	143012827	57	34199										
KIF13B	23303	genome.wustl.edu	37	chr8	28932813	28932813	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctcacctcctccatcctggtCaccctgatgtccgggctggc	9	18	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:28932813C>T	ENST00000524189.1	-	38	4544	c.4506G>A	c.(4504-4506)gtG>gtA	p.V1502V	KIF13B_ENST00000404075.3_Intron	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1502					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCATCCTGGTCACCCTGATGT	0.632																																																	0													20	25	23					8																	28932813		2050	4137	6187	SO:0001819	synonymous_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4506G>A	8.37:g.28932813C>T			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1502	ENST00000524189.1	37	c.4506	CCDS55217.1	8																																																																																			KIF13B	-	NULL		0.632	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	C			28932813	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	silent	SNP	0.000	T	T	28932813	C	T	28932813	2	4	184	1	0	0	0	0	0	0	0	1	8295	813	29	1		1	KIF13B	8	28932813	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	25581618	28932813	117431209	58	34200										
GSR	2936	genome.wustl.edu	37	chr8	30539546	30539546	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ttccttatattcaaaaagtcGatgggcaagttttcggccag	9	8	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:30539546G>A	ENST00000221130.5	-	11	1276	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	GSR_ENST00000546342.1_Nonsense_Mutation_p.R367*|GSR_ENST00000537535.1_Nonsense_Mutation_p.R314*|GSR_ENST00000541648.1_Nonsense_Mutation_p.R343*|GSR_ENST00000414019.1_Nonsense_Mutation_p.R353*	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	396					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TCAAAAAGTCGATGGGCAAGT	0.398																																																	0													103	111	108					8																	30539546		2203	4300	6503	SO:0001587	stop_gained	2936				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1186C>T	8.37:g.30539546G>A	ENSP00000221130:p.Arg396*		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Nonsense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	p.R396*	ENST00000221130.5	37	c.1186	CCDS34877.1	8	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446589	0.84101	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	.	.	.	5.56	1.79	0.24919	.	0.097975	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4922	12.2826	0.54774	0.0:0.0:0.4342:0.5658	.	.	.	.	X	396;353;367;343;314	.	ENSP00000221130:R396X	R	-	1	2	GSR	30659088	0.983000	0.35010	0.991000	0.47740	0.988000	0.76386	0.627000	0.24506	0.437000	0.26423	-0.154000	0.13518	CGA	GSR	-	tigrfam_Glutathione_Rdtase_euk/bac		0.398	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1	G			30539546	-1	no_errors	ENST00000221130	ensembl	human	known	70_37	nonsense	SNP	0.991	A	A	30539546	G	A	30539546	4	1	184	1	0	0	0	0	0	1	0	0	6848	1066	37	1	394	1	GSR	8	30539546	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	1606733	30539546	115824476	59	34201										
TEX15	56154	genome.wustl.edu	37	chr8	30705231	30705231	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	atagtctctctgaatgttctCtaatgacactggttcatttt	6	8	4	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:30705231C>G	ENST00000256246.2	-	1	1377	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	435					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAATGTTCTCTAATGACACT	0.343																																																	0													147	147	147					8																	30705231		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1303G>C	8.37:g.30705231C>G	ENSP00000256246:p.Glu435Gln			Missense_Mutation	SNP	NULL	p.E435Q	ENST00000256246.2	37	c.1303	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131696	0.37630	.	.	ENSG00000133863	ENST00000256246	T	0.10288	2.89	5.61	1.69	0.24217	.	0.664633	0.13939	N	0.352379	T	0.07818	0.0196	L	0.29908	0.895	0.09310	N	1	B	0.21821	0.061	B	0.21917	0.037	T	0.31613	-0.9937	10	0.87932	D	0	.	5.0779	0.14642	0.1479:0.3706:0.4036:0.0779	.	435	Q9BXT5	TEX15_HUMAN	Q	435	ENSP00000256246:E435Q	ENSP00000256246:E435Q	E	-	1	0	TEX15	30824773	0.008000	0.16893	0.014000	0.15608	0.005000	0.04900	0.967000	0.29344	0.378000	0.24764	-0.796000	0.03273	GAG	TEX15	-	NULL		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30705231	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.000	G	G	30705231	C	G	30705231	3	3	184	1	0	0	0	0	1	0	0	0	15809	922	32	1	7082	1	TEX15	8	30705231	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	165685	30705231	115658791	60	34202										
PROSC	11212	genome.wustl.edu	37	chr8	37633451	37633451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gtcagctgttattgtccctcCgggaggagctgtgtaaaaag	13	8	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:37633451C>T	ENST00000328195.3	+	7	680	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	205					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	ATTGTCCCTCCGGGAGGAGCT	0.507																																																	0													204	201	202					8																	37633451		2203	4300	6503	SO:0001583	missense	11212			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"proline synthetase co-transcribed (bacterial homolog)"				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.613C>T	8.37:g.37633451C>T	ENSP00000333551:p.Arg205Trp		Q6FI94	Missense_Mutation	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.R205W	ENST00000328195.3	37	c.613	CCDS6096.1	8	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870450	0.72065	.	.	ENSG00000147471	ENST00000328195	T	0.48201	0.82	6.07	5.19	0.71726	Alanine racemase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.76691	-0.2866	10	0.87932	D	0	.	15.4605	0.75353	0.0:0.9321:0.0:0.0679	.	205	O94903	PROSC_HUMAN	W	205	ENSP00000333551:R205W	ENSP00000333551:R205W	R	+	1	2	PROSC	37752609	0.997000	0.39634	0.997000	0.53966	0.432000	0.31715	1.796000	0.38794	2.884000	0.98904	0.655000	0.94253	CGG	PROSC	-	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001		0.507	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	C	NM_007198		37633451	1	no_errors	ENST00000328195	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37633451	C	T	37633451	3	4	184	1	0	0	0	0	1	0	0	0	12586	643	23	2	639	2	PROSC	8	37633451	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	6928220	37633451	108730571	61	34203										
TACC1	6867	genome.wustl.edu	37	chr8	38677586	38677586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tgaagagttggatgagaacaCaagtcctttgctaggagatg	13	5	0	4			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:38677586C>G	ENST00000317827.4	+	3	1203	c.824C>G	c.(823-825)aCa>aGa	p.T275R	TACC1_ENST00000520615.1_Missense_Mutation_p.T80R|TACC1_ENST00000379931.3_Missense_Mutation_p.T275R|TACC1_ENST00000520340.1_Missense_Mutation_p.T239R|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000519416.1_Missense_Mutation_p.T80R|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000443286.2_Missense_Mutation_p.T291R|TACC1_ENST00000518415.1_Missense_Mutation_p.T230R|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.T80R	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	275	Interaction with YEATS4.|SPAZ 1.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GATGAGAACACAAGTCCTTTG	0.532																																																	0													39	40	40					8																	38677586		2203	4300	6503	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.824C>G	8.37:g.38677586C>G	ENSP00000321703:p.Thr275Arg		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.T275R	ENST00000317827.4	37	c.824	CCDS6109.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.530|5.530	0.282740|0.282740	0.10458|0.10458	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000521866|ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973;ENST00000521935	.|T;T;T;T;T;T;T;T;T	.|0.33216	.|2.91;2.91;3.05;3.06;2.88;3.07;3.07;2.89;1.42	5.27|5.27	3.45|3.45	0.39498|0.39498	.|.	.|0.836066	.|0.10974	.|N	.|0.613532	T|T	0.29817|0.29817	0.0745|0.0745	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|P;B;B;B;P;B;B;P	.|0.49783	.|0.928;0.309;0.242;0.003;0.496;0.363;0.201;0.496	.|P;B;B;B;B;B;B;B	.|0.48063	.|0.565;0.064;0.087;0.002;0.261;0.133;0.1;0.193	T|T	0.12941|0.12941	-1.0528|-1.0528	5|10	.|0.13108	.|T	.|0.6	1.4623|1.4623	2.3405|2.3405	0.04259|0.04259	0.1581:0.5222:0.1529:0.1669|0.1581:0.5222:0.1529:0.1669	.|.	.|80;80;80;291;275;275;80;230	.|B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7	.|.;.;.;.;.;TACC1_HUMAN;.;.	E|R	50|80;80;80;291;230;247;275;275;80;80	.|ENSP00000428687:T80R;ENSP00000428450:T80R;ENSP00000393647:T291R;ENSP00000428706:T230R;ENSP00000430355:T247R;ENSP00000321703:T275R;ENSP00000369263:T275R;ENSP00000430959:T80R;ENSP00000428175:T80R	.|ENSP00000321703:T275R	Q|T	+|+	1|2	0|0	TACC1|TACC1	38796743|38796743	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	0.504000|0.504000	0.22626|0.22626	0.576000|0.576000	0.29452|0.29452	-0.302000|-0.302000	0.09304|0.09304	CAA|ACA	TACC1	-	NULL		0.532	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	C	NM_006283		38677586	1	no_errors	ENST00000379931	ensembl	human	known	70_37	missense	SNP	0.000	G	G	38677586	C	G	38677586	3	3	184	1	0	0	0	0	1	0	0	0	15531	478	17	4	834	4	TACC1	8	38677586	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	1044135	38677586	107686436	62	34204										
KCNK9	51305	genome.wustl.edu	37	chr8	140631235	140631235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gcgcacgaaggtgttcatgcGctcgcccaggctctggaaca	13	13	2	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr8:140631235G>A	ENST00000520439.1	-	2	454	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	KCNK9_ENST00000303015.1_Missense_Mutation_p.R131C|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	131					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GTGTTCATGCGCTCGCCCAGG	0.592																																																	0													95	75	82					8																	140631235		2203	4300	6503	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.391C>T	8.37:g.140631235G>A	ENSP00000430676:p.Arg131Cys		Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.R131C	ENST00000520439.1	37	c.391	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285938	0.59867	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.32023	1.47;1.47;1.47	5.73	3.87	0.44632	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70146	-0.4952	10	0.87932	D	0	.	13.0231	0.58800	0.0:0.0:0.5767:0.4233	.	131	Q9NPC2	KCNK9_HUMAN	C	131	ENSP00000429847:R131C;ENSP00000302166:R131C;ENSP00000430676:R131C	ENSP00000302166:R131C	R	-	1	0	KCNK9	140700417	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.179000	0.58290	0.705000	0.31890	0.655000	0.94253	CGC	KCNK9	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK		0.592	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	G	NM_016601		140631235	-1	no_errors	ENST00000303015	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140631235	G	A	140631235	3	1	184	1	0	0	0	0	1	0	0	0	8092	1087	38	2	737	2	KCNK9	8	140631235	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	101953649	140631235	5732787	63	34205										
IL33	90865	genome.wustl.edu	37	chr9	6254555	6254556	+	Splice_Site	INS	-	-	A													0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aaggaacactctgtggaggtINSaaaaaaaaaaaatttatcta					rs113609242|rs60420792		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:6254555_6254556insA	ENST00000381434.3	+	6	625		c.e6+2		IL33_ENST00000456383.2_Splice_Site|IL33_ENST00000417746.2_Splice_Site	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33						extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TCTGTGGAGGTAAAAAAAAAAA	0.371																																																	0																																										SO:0001630	splice_region_variant	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.612+2->A	9.37:g.6254566_6254566dupA			B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Splice_Site	INS	-	e6+2	ENST00000381434.3	37	c.612+2_612+1	CCDS6468.1	9																																																																																			IL33	-	-		0.371	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL33	HGNC	protein_coding	OTTHUMT00000051655.1	-	NM_033439	Intron	6254556	1	no_errors	ENST00000381434	ensembl	human	known	70_37	splice_site_ins	INS	0.996:0.986	A	A	6254556	-	A	6254555	8	5	184	1	0	1	1	0	0	0	1	0	7713	1652	57	0	636	0	IL33	9	6254555	Splice_Site	INS	-	TCGA-Q1-A6DW-01A-11D-A32I-09		6254555	134958876	64	34206										
FRMD3	257019	genome.wustl.edu	37	chr9	85863188	85863188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ccagatcctcaaatgaatctGtgtcttctctttccaactca	4	13	5	2	rs572422981		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:85863188G>T	ENST00000304195.3	-	14	1645	c.1439C>A	c.(1438-1440)aCa>aAa	p.T480K	FRMD3_ENST00000376434.1_Missense_Mutation_p.T286K|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.T137K|FRMD3_ENST00000376438.1_Missense_Mutation_p.T480K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	480						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AAATGAATCTGTGTCTTCTCT	0.498																																																	0													167	162	164					9																	85863188		1972	4155	6127	SO:0001583	missense	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1439C>A	9.37:g.85863188G>T	ENSP00000303508:p.Thr480Lys		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.T480K	ENST00000304195.3	37	c.1439	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580684	0.46006	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86097	-1.66;-2.07;0.68;-1.65	5.72	3.84	0.44239	.	0.217554	0.48767	D	0.000170	D	0.87188	0.6115	L	0.59436	1.845	0.46798	D	0.999205	P;B;D	0.76494	0.842;0.435;0.999	B;B;D	0.64877	0.185;0.157;0.93	D	0.83615	0.0136	10	0.06625	T	0.88	.	11.6847	0.51479	0.1477:0.0:0.8523:0.0	.	480;480;137	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	K	480;286;137;480	ENSP00000365621:T480K;ENSP00000365617:T286K;ENSP00000328615:T137K;ENSP00000303508:T480K	ENSP00000303508:T480K	T	-	2	0	FRMD3	85053008	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.342000	0.59341	0.726000	0.32339	0.655000	0.94253	ACA	FRMD3	-	NULL		0.498	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	G	NM_174938		85863188	-1	no_errors	ENST00000304195	ensembl	human	known	70_37	missense	SNP	0.998	T	T	85863188	G	T	85863188	3	4	184	1	0	0	0	0	1	0	0	0	6068	1377	48	4	358	4	FRMD3	9	85863188	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	79608633	85863188	55350243	65	34207										
AKAP2	11217	genome.wustl.edu	37	chr9	112900327	112900327	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gagcagagcaacagggacctGaagcgactgtagaggaagct	15	8	0	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:112900327G>A	ENST00000259318.7	+	2	2017	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	AKAP2_ENST00000555236.1_Missense_Mutation_p.E835K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E835K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E693K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E835K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E693K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E835K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	604										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ACAGGGACCTGAAGCGACTGT	0.532																																																	0													37	42	40					9																	112900327		2203	4300	6503	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1810G>A	9.37:g.112900327G>A	ENSP00000259318:p.Glu604Lys		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.E835K	ENST00000259318.7	37	c.2503	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	5.847	0.340395	0.11069	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.48522	2.14;2.14;2.14;2.14;1.39;0.81;0.81;1.59	5.74	0.579	0.17397	.	1.698120	0.02847	N	0.128685	T	0.35278	0.0926	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.001;0.001;0.001;0.0	B;B;B;B;B;B;B;B	0.06405	0.0;0.002;0.001;0.002;0.001;0.002;0.002;0.002	T	0.19386	-1.0307	10	0.37606	T	0.19	-0.0471	7.3481	0.26674	0.0697:0.49:0.3181:0.1222	.	604;693;687;693;694;835;835;653	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	835;835;835;835;693;693;653;604	ENSP00000363654:E835K;ENSP00000305861:E835K;ENSP00000451476:E835K;ENSP00000421522:E835K;ENSP00000404782:E693K;ENSP00000363649:E693K;ENSP00000419268:E653K;ENSP00000259318:E604K	ENSP00000259318:E604K	E	+	1	0	PALM2-AKAP2;AKAP2	111940148	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.700000	0.25601	-0.078000	0.12730	-0.172000	0.13284	GAA	PALM2-AKAP2	-	NULL		0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	G	NM_001004065		112900327	1	no_errors	ENST00000374530	ensembl	human	known	70_37	missense	SNP	0.000	A	A	112900327	G	A	112900327	3	1	184	1	0	0	0	0	1	0	0	0	451	1291	45	1	2083	1	AKAP2	9	112900327	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	27037139	112900327	28313104	66	34208										
PBX3	5090	genome.wustl.edu	37	chr9	128678118	128678118	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggcagcctctggaggttcttCagataactctattgaacact	9	10	4	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:128678118C>T	ENST00000373489.5	+	3	444	c.428C>T	c.(427-429)tCa>tTa	p.S143L	PBX3_ENST00000342287.5_Missense_Mutation_p.S143L|PBX3_ENST00000447726.2_Missense_Mutation_p.S68L|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.S143L	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	143					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGAGGTTCTTCAGATAACTCT	0.507																																																	0													51	62	59					9																	128678118		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.428C>T	9.37:g.128678118C>T	ENSP00000362588:p.Ser143Leu		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S143L	ENST00000373489.5	37	c.428	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	C	9.634	1.137214	0.21123	.	.	ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487;ENST00000447726;ENST00000538998	D;D;T;D;D	0.88586	-2.18;-2.16;1.91;-2.4;-2.3	5.87	4.98	0.66077	PBX (1);	0.116787	0.64402	D	0.000011	D	0.87018	0.6073	L	0.40543	1.245	0.80722	D	1	B;B;B	0.22211	0.044;0.066;0.001	B;B;B	0.36092	0.063;0.217;0.04	T	0.82934	-0.0211	10	0.29301	T	0.29	.	15.5104	0.75776	0.0:0.9336:0.0:0.0664	.	54;143;143	B7Z5Q0;Q5JS98;P40426	.;.;PBX3_HUMAN	L	143;143;143;68;54	ENSP00000362588:S143L;ENSP00000341990:S143L;ENSP00000362586:S143L;ENSP00000387456:S68L;ENSP00000444005:S54L	ENSP00000341990:S143L	S	+	2	0	PBX3	127717939	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	4.531000	0.60602	1.628000	0.50416	-0.150000	0.13652	TCA	PBX3	-	pfam_PBX		0.507	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	C			128678118	1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128678118	C	T	128678118	3	4	184	1	0	0	0	0	1	0	0	0	11518	838	29	1	438	1	PBX3	9	128678118	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	15777791	128678118	12535313	67	34209										
SARDH	1757	genome.wustl.edu	37	chr9	136568062	136568062	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tcgtggtggggcgggaaggcGaaggtgtactcgtctgccag	19	8	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:136568062G>A	ENST00000371872.4	-	13	1901	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	SARDH_ENST00000422262.2_Silent_p.F380F|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Silent_p.F548F	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	548					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGGGAAGGCGAAGGTGTACT	0.662																																																	0													65	59	61					9																	136568062		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1644C>T	9.37:g.136568062G>A			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	NULL	p.R153Q	ENST00000371872.4	37	c.458	CCDS6978.1	9																																																																																			AL590710.2	-	NULL		0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269369	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000054931.1	G			136568062	1	no_errors	ENST00000601113	ensembl	human	known	70_37	missense	SNP	0.998	A	A	136568062	G	A	136568062	2	1	184	1	0	0	0	0	0	0	0	1	13871	1049	37	1		1	SARDH	9	136568062	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	7889944	136568062	4645369	68	34210										
SEC16A	9919	genome.wustl.edu	37	chr9	139357483	139357483	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	acctgctccactgcctcattCgtgaaatcaatcaggtttgc	7	13	3	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:139357483C>A	ENST00000371706.3	-	10	4248	c.4215G>T	c.(4213-4215)acG>acT	p.T1405T	SEC16A_ENST00000313050.7_Silent_p.T1583T|SEC16A_ENST00000431893.2_Silent_p.T1405T|SEC16A_ENST00000290037.6_Silent_p.T1405T			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1405					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGCCTCATTCGTGAAATCAA	0.587																																																	0													84	95	92					9																	139357483		2064	4199	6263	SO:0001819	synonymous_variant	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4215G>T	9.37:g.139357483C>A			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.T1583	ENST00000371706.3	37	c.4749		9																																																																																			SEC16A	-	NULL		0.587	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	C	XM_088459		139357483	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	silent	SNP	0.006	A	A	139357483	C	A	139357483	2	1	184	1	0	0	0	0	0	0	0	1	14016	871	31	3		3	SEC16A	9	139357483	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	2789421	139357483	1855948	69	34211										
AGPAT2	10555	genome.wustl.edu	37	chr9	139568327	139568327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	acgagcgcagggacgtccgcCgcagtgaggccgctggtggg	19	12	0	1	rs370950858	byFrequency	TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:139568327C>T	ENST00000371696.2	-	6	779	c.714G>A	c.(712-714)gcG>gcA	p.A238A	AGPAT2_ENST00000371694.3_Silent_p.A206A|AGPAT2_ENST00000538402.1_Silent_p.A238A	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	238					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGACGTCCGCCGCAGTGAGGC	0.677													c|||	4	0.000798722	0.003	0	5008	,	,		14754	0		0	False		,,,				2504	0																0								C	,	2,4390		0,2,2194	37	37	37		618,714	-0.9	0	9		37	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	AGPAT2	NM_001012727.1,NM_006412.3	,	0,2,6490	TT,TC,CC		0.0,0.0455,0.0154	,	206/247,238/279	139568327	2,12982	2196	4296	6492	SO:0001819	synonymous_variant	10555			AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	325	protein-coding gene	gene with protein product	"LPAAT-beta", "lysophosphatidic acid acyltransferase, beta"	603100	"Berardinelli-Seip congenital lipodystrophy", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.714G>A	9.37:g.139568327C>T			O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	p.A238	ENST00000371696.2	37	c.714	CCDS7003.1	9																																																																																			AGPAT2	-	NULL		0.677	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT2	HGNC	protein_coding	OTTHUMT00000055090.1	C	NM_006412		139568327	-1	no_errors	ENST00000371696	ensembl	human	known	70_37	silent	SNP	0.001	T	T	139568327	C	T	139568327	2	4	184	1	0	0	0	0	0	0	0	1	387	639	23	2		2	AGPAT2	9	139568327	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	210844	139568327	1645104	70	34212										
SLC34A3	142680	genome.wustl.edu	37	chr9	140128658	140128658	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctctgcggctgcctggtcctCatagtcaagctgctcaactc	9	15	4	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr9:140128658C>T	ENST00000538474.1	+	10	1247	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	SLC34A3_ENST00000361134.2_Silent_p.L341L	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	341					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCTGGTCCTCATAGTCAAGC	0.687																																																	0													31	29	30					9																	140128658		2192	4295	6487	SO:0001819	synonymous_variant	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"Solute carriers"	20305	protein-coding gene	gene with protein product		609826	"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1023C>T	9.37:g.140128658C>T			A2BFA1	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.L341	ENST00000538474.1	37	c.1023	CCDS7038.1	9																																																																																			SLC34A3	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.687	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A3	HGNC	protein_coding	OTTHUMT00000254712.1	C	NM_080877		140128658	1	no_errors	ENST00000361134	ensembl	human	known	70_37	silent	SNP	0.998	T	T	140128658	C	T	140128658	2	4	184	1	0	0	0	0	0	0	0	1	14599	813	29	1		1	SLC34A3	9	140128658	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	560331	140128658	1084773	71	34213										
MCM10	55388	genome.wustl.edu	37	chr10	13234490	13234490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	accagccatcaagtccatctCggcctcagcactcttgaagc	7	16	4	1	rs558495502		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:13234490C>T	ENST00000484800.2	+	13	1773	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L	MCM10_ENST00000378694.1_Missense_Mutation_p.S556L|MCM10_ENST00000378714.3_Missense_Mutation_p.S556L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	557					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGTCCATCTCGGCCTCAGCA	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		19744	0		0	False		,,,				2504	0																0													102	101	101					10																	13234490		2203	4300	6503	SO:0001583	missense	55388			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1670C>T	10.37:g.13234490C>T	ENSP00000418268:p.Ser557Leu		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.S557L	ENST00000484800.2	37	c.1670	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088014	0.76642	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.39406	1.08;1.08;1.08	5.61	5.61	0.85477	Replication factor Mcm10 (1);	0.114365	0.64402	D	0.000008	T	0.65312	0.2679	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.68621	0.912;0.932;0.959	T	0.65861	-0.6065	10	0.56958	D	0.05	-16.655	19.6689	0.95903	0.0:1.0:0.0:0.0	.	556;556;557	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	L	556;557;557;556	ENSP00000367986:S556L;ENSP00000418268:S557L;ENSP00000367966:S556L	ENSP00000354945:S557L	S	+	2	0	MCM10	13274496	1.000000	0.71417	0.895000	0.35142	0.326000	0.28443	6.827000	0.75303	2.643000	0.89663	0.643000	0.83706	TCG	MCM10	-	pfam_Rep_factor_Mcm10		0.517	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	C	NM_182751		13234490	1	no_errors	ENST00000361282	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13234490	C	T	13234490	3	4	184	1	0	0	0	0	1	0	0	0	9408	893	31	1	1716	1	MCM10	10	13234490	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09		13234490	122300257	72	34214										
FAM171A1	221061	genome.wustl.edu	37	chr10	15255565	15255565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	atctgagccaaagccgcgtcGttcagggaagctgggatgga	15	9	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:15255565G>A	ENST00000378116.4	-	8	2028	c.2022C>T	c.(2020-2022)aaC>aaT	p.N674N	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	674						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AAGCCGCGTCGTTCAGGGAAG	0.632																																																	0													58	62	60					10																	15255565		2203	4300	6503	SO:0001819	synonymous_variant	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2022C>T	10.37:g.15255565G>A			D3DRT9|Q32M49|Q8N4I0	Silent	SNP	pfam_Uncharacterised_FAM171	p.N674	ENST00000378116.4	37	c.2022	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171		0.632	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	G	XM_167709		15255565	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	silent	SNP	0.932	A	A	15255565	G	A	15255565	2	1	184	1	0	0	0	0	0	0	0	1	5505	1136	40	2		2	FAM171A1	10	15255565	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	2021075	15255565	120279182	73	34215										
WAC	51322	genome.wustl.edu	37	chr10	28899712	28899712	+	Frame_Shift_Del	DEL	C	C	-													0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	accatctgctttcaacataaCgtctctgatttctcaagctg							TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:28899712delC	ENST00000354911.4	+	9	1411	c.1250delC	c.(1249-1251)acgfs	p.T417fs	WAC_ENST00000375664.4_Frame_Shift_Del_p.T372fs|WAC_ENST00000428935.1_Frame_Shift_Del_p.T372fs|WAC_ENST00000375646.1_Frame_Shift_Del_p.T265fs|WAC_ENST00000347934.4_Frame_Shift_Del_p.T314fs	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	417					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TTCAACATAACGTCTCTGATT	0.363																																																	0													175	168	171					10																	28899712		2203	4300	6503	SO:0001589	frameshift_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1250delC	10.37:g.28899712delC	ENSP00000346986:p.Thr417fs		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Frame_Shift_Del	DEL	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.T417fs	ENST00000354911.4	37	c.1250	CCDS7159.1	10																																																																																			WAC	-	NULL		0.363	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	C	NM_100264		28899712	1	no_errors	ENST00000354911	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	28899712	C	-	28899712	7	5	184	1	0	1	0	1	0	0	0	0	17278	536	19	0	1284	0	WAC	10	28899712	Frame_Shift_Del	DEL	C	TCGA-Q1-A6DW-01A-11D-A32I-09	13644147	28899712	106635035	74	34216										
ZNF248	57209	genome.wustl.edu	37	chr10	38121767	38121767	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctaatatcaaggagcaatttCtcacatacattaaactcatc	3	10	3	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:38121767C>T	ENST00000395867.3	-	6	1066	c.516G>A	c.(514-516)gaG>gaA	p.E172E	ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Silent_p.E172E|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GGAGCAATTTCTCACATACAT	0.318																																																	0													56	59	58					10																	38121767		2201	4297	6498	SO:0001819	synonymous_variant	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.516G>A	10.37:g.38121767C>T			Q8NDV8|Q9UMP3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E172	ENST00000395867.3	37	c.516	CCDS7194.1	10																																																																																			ZNF248	-	NULL		0.318	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1	C	NM_021045		38121767	-1	no_errors	ENST00000357328	ensembl	human	known	70_37	silent	SNP	0.993	T	T	38121767	C	T	38121767	2	4	184	1	0	0	0	0	0	0	0	1	17823	912	32	1		1	ZNF248	10	38121767	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	9222055	38121767	97412980	75	34217										
RET	5979	genome.wustl.edu	37	chr10	43617418	43617418	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggattccagttaaatggatgGcaattgaatccctttttgat	9	6	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:43617418G>T	ENST00000355710.3	+	16	2987	c.2755G>T	c.(2755-2757)Gca>Tca	p.A919S	RET_ENST00000340058.5_Missense_Mutation_p.A919S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	919	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TAAATGGATGGCAATTGAATC	0.438		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0													261	243	249					10																	43617418		2203	4300	6503	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2755G>T	10.37:g.43617418G>T	ENSP00000347942:p.Ala919Ser		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A919S	ENST00000355710.3	37	c.2755	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.633806	0.96682	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.94862	-3.54;-3.54	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	L	0.52126	1.63	0.80722	D	1	P;P;D	0.58970	0.64;0.888;0.984	P;P;D	0.65443	0.467;0.84;0.935	D	0.96404	0.9299	10	0.72032	D	0.01	.	19.6058	0.95582	0.0:0.0:1.0:0.0	.	665;919;919	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	S	919	ENSP00000347942:A919S;ENSP00000344798:A919S	ENSP00000344798:A919S	A	+	1	0	RET	42937424	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.799000	0.99117	2.722000	0.93159	0.655000	0.94253	GCA	RET	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.438	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	G	NM_020975		43617418	1	no_errors	ENST00000355710	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43617418	G	T	43617418	3	4	184	1	0	0	0	0	1	0	0	0	13265	1203	42	4	2817	4	RET	10	43617418	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	5495651	43617418	91917329	76	34218										
MYST4	23522	genome.wustl.edu	37	chr10	76744974	76744974	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aaaaaatgatgaaaagggctGtcatctggttggatacttct	10	5	3	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:76744974G>T	ENST00000287239.4	+	12	2999	c.2510G>T	c.(2509-2511)tGt>tTt	p.C837F	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Missense_Mutation_p.C545F|KAT6B_ENST00000372724.1_Missense_Mutation_p.C545F|KAT6B_ENST00000372711.1_Missense_Mutation_p.C654F|KAT6B_ENST00000372725.1_Missense_Mutation_p.C545F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	837	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAAAAGGGCTGTCATCTGGTT	0.388																																																	0													105	99	101					10																	76744974		2203	4300	6503	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2510G>T	10.37:g.76744974G>T	ENSP00000287239:p.Cys837Phe		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.C837F	ENST00000287239.4	37	c.2510	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801688	0.50315	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78707	-1.17;-1.17;-1.2;-1.17;-1.19	6.07	6.07	0.98685	.	0.000000	0.53938	D	0.000041	D	0.86936	0.6053	L	0.54965	1.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.86276	0.1664	10	0.66056	D	0.02	-7.1593	20.6452	0.99591	0.0:0.0:1.0:0.0	.	654;545;837	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	F	545;545;837;545;654	ENSP00000361810:C545F;ENSP00000361809:C545F;ENSP00000287239:C837F;ENSP00000361799:C545F;ENSP00000361796:C654F	ENSP00000287239:C837F	C	+	2	0	KAT6B	76414980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.650000	0.86243	TGT	KAT6B	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.388	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	G	NM_012330		76744974	1	no_errors	ENST00000287239	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76744974	G	T	76744974	3	4	184	1	0	0	0	0	1	0	0	0	10128	1377	48	4	2548	4	MYST4	10	76744974	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	33127556	76744974	58789773	77	34219										
PTEN	5728	genome.wustl.edu	37	chr10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctgtaaagctggaaagggacGaactggtgtaatgatatgtg	14	4	0	1	rs121913292|rs121909229		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	GRCh37	CM981670|CM991081	PTEN	M	rs121909229						139	129	133					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R130Q	ENST00000371953.3	37	c.389	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314		89692905	1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89692905	G	A	89692905	3	1	184	1	0	0	0	0	1	0	0	0	12765	1058	37	1	407	1	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	12947931	89692905	45841842	78	34220										
SHOC2	8036	genome.wustl.edu	37	chr10	112724609	112724609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ttaccagtttgcctgactctCttgataacttgaagaagctg	8	9	1	4			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr10:112724609C>T	ENST00000369452.4	+	2	838	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Missense_Mutation_p.L165F	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	165					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCCTGACTCTCTTGATAACTT	0.423																																																	0													85	90	88					10																	112724609		2203	4298	6501	SO:0001583	missense	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.493C>T	10.37:g.112724609C>T	ENSP00000358464:p.Leu165Phe		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L165F	ENST00000369452.4	37	c.493	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780943	0.49891	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.38560	1.13;1.13;1.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	L	0.41079	1.255	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.78314	0.991;0.98	T	0.56366	-0.7991	10	0.52906	T	0.07	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	165;165	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	F	165;165;1	ENSP00000265277:L165F;ENSP00000358464:L165F;ENSP00000408275:L1F	ENSP00000265277:L165F	L	+	1	0	SHOC2	112714599	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	6.066000	0.71185	2.734000	0.93682	0.655000	0.94253	CTT	SHOC2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.423	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	C	NM_007373		112724609	1	no_errors	ENST00000369452	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112724609	C	T	112724609	3	4	184	1	0	0	0	0	1	0	0	0	14317	913	32	1	495	1	SHOC2	10	112724609	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	23031704	112724609	22810138	79	34221										
MUC5B	727897	genome.wustl.edu	37	chr11	1267515	1267515	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ccggggacgacctggatcctCacagagctgaccacagcagc	12	15	1	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:1267515C>G	ENST00000529681.1	+	31	9463	c.9405C>G	c.(9403-9405)ctC>ctG	p.L3135L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.L3138L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3135	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGATCCTCACAGAGCTGA	0.657																																																	0													60	78	72					11																	1267515		2040	4168	6208	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9405C>G	11.37:g.1267515C>G			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L3138	ENST00000529681.1	37	c.9414	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1267515	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.001	G	G	1267515	C	G	1267515	2	3	184	1	0	0	0	0	0	0	0	1	10002	813	29	1		1	MUC5B	11	1267515	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09		1267515	133739001	80	34222										
KDM2A	22992	genome.wustl.edu	37	chr11	67021879	67021879	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	cgctactctctcacagagctCaatatggcaggtatgccgct	9	13	3	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:67021879C>A	ENST00000529006.2	+	20	3743	c.3297C>A	c.(3295-3297)ctC>ctA	p.L1099L	KDM2A_ENST00000308783.5_Silent_p.L557L|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000530342.1_Silent_p.L660L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1099					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TCACAGAGCTCAATATGGCAG	0.537																																																	0													149	144	146					11																	67021879		2097	4211	6308	SO:0001819	synonymous_variant	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3297C>A	11.37:g.67021879C>A			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L1099	ENST00000529006.2	37	c.3297	CCDS44657.1	11																																																																																			KDM2A	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.537	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	C	NM_012308		67021879	1	no_errors	ENST00000529006	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67021879	C	A	67021879	2	1	184	1	0	0	0	0	0	0	0	1	8144	813	29	3		3	KDM2A	11	67021879	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	65754364	67021879	67984637	81	34223										
MMP3	4314	genome.wustl.edu	37	chr11	102709885	102709885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tgctagtaacttcatatgcgGcatccacgcctgaaggaaga	10	10	1	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:102709885G>A	ENST00000299855.5	-	7	1281	c.1025C>T	c.(1024-1026)gCc>gTc	p.A342V	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	342					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TTCATATGCGGCATCCACGCC	0.378																																																	0													90	96	94					11																	102709885		2203	4299	6502	SO:0001583	missense	4314			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1025C>T	11.37:g.102709885G>A	ENSP00000299855:p.Ala342Val		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.A342V	ENST00000299855.5	37	c.1025	CCDS8323.1	11	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821162	0.71028	.	.	ENSG00000149968	ENST00000299855	T	0.18810	2.19	5.58	5.58	0.84498	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.36591	N	0.002511	T	0.63129	0.2485	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74569	-0.3622	10	0.87932	D	0	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	342	P08254	MMP3_HUMAN	V	342	ENSP00000299855:A342V	ENSP00000299855:A342V	A	-	2	0	MMP3	102215095	1.000000	0.71417	0.995000	0.50966	0.046000	0.14306	8.676000	0.91199	2.906000	0.99361	0.655000	0.94253	GCC	MMP3	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.378	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	HGNC	protein_coding	OTTHUMT00000109758.2	G	NM_002422		102709885	-1	no_errors	ENST00000299855	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102709885	G	A	102709885	3	1	184	1	0	0	0	0	1	0	0	0	9689	1203	42	4	424	4	MMP3	11	102709885	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	35688006	102709885	32296631	82	34224										
PVRL1	5818	genome.wustl.edu	37	chr11	119548547	119548547	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aagcactgcctgggtaccctCtatccaattggtgggtttgg	12	10	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:119548547C>A	ENST00000264025.3	-	3	981	c.451G>T	c.(451-453)Gag>Tag	p.E151*	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Nonsense_Mutation_p.E151*|PVRL1_ENST00000341398.2_Nonsense_Mutation_p.E151*	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	151	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGGGTACCCTCTATCCAATTG	0.587																																																	0													82	60	68					11																	119548547		2199	4295	6494	SO:0001587	stop_gained	5818			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.451G>T	11.37:g.119548547C>A	ENSP00000264025:p.Glu151*		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Nonsense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E151*	ENST00000264025.3	37	c.451	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.777467	0.96929	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	.	.	.	5.56	5.56	0.83823	.	0.146393	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5166	0.90937	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	.	E	-	1	0	PVRL1	119053757	0.999000	0.42202	0.992000	0.48379	0.932000	0.56968	5.111000	0.64628	2.629000	0.89072	0.561000	0.74099	GAG	PVRL1	-	pfam_CD80_C2-set		0.587	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	C			119548547	-1	no_errors	ENST00000264025	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	119548547	C	A	119548547	4	1	184	1	0	0	0	0	0	1	0	0	12869	922	32	3	1564	3	PVRL1	11	119548547	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	16838662	119548547	15457969	83	34225										
CRTAM	56253	genome.wustl.edu	37	chr11	122722543	122722543	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	agcacaaaggaagtgaaagtGattgtgctgggtaggtacct	14	5	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:122722543G>C	ENST00000227348.4	+	3	383	c.336G>C	c.(334-336)gtG>gtC	p.V112V		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAGTGAAAGTGATTGTGCTGG	0.433																																																	0													103	87	93					11																	122722543		2202	4299	6501	SO:0001819	synonymous_variant	56253			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	24313	protein-coding gene	gene with protein product	"class I MHC restricted T cell associated molecule"	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.336G>C	11.37:g.122722543G>C				Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.V112	ENST00000227348.4	37	c.336	CCDS8437.1	11																																																																																			CRTAM	-	pfam_Ig_V-set,smart_Ig_sub		0.433	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAM	HGNC	protein_coding	OTTHUMT00000387507.1	G	NM_019604		122722543	1	no_errors	ENST00000227348	ensembl	human	known	70_37	silent	SNP	0.156	C	C	122722543	G	C	122722543	2	2	184	1	0	0	0	0	0	0	0	1	3902	1277	45	1		1	CRTAM	11	122722543	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	3173996	122722543	12283973	84	34226										
VWA5A	4013	genome.wustl.edu	37	chr11	123993733	123993733	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tatcccagaagatcaaccatCaaatacctgtggagagttta	7	9	2	3	rs139849781		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:123993733C>T	ENST00000456829.2	+	8	1078	c.827C>T	c.(826-828)tCa>tTa	p.S276L	VWA5A_ENST00000449321.1_Missense_Mutation_p.S276L|VWA5A_ENST00000392744.4_Missense_Mutation_p.S292L|VWA5A_ENST00000360334.4_Missense_Mutation_p.S276L|VWA5A_ENST00000392748.1_Missense_Mutation_p.S276L|VWA5A_ENST00000361352.5_Missense_Mutation_p.S276L	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	276										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GATCAACCATCAAATACCTGT	0.458																																																	0													66	67	66					11																	123993733		2201	4299	6500	SO:0001583	missense	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.827C>T	11.37:g.123993733C>T	ENSP00000407726:p.Ser276Leu		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.S276L	ENST00000456829.2	37	c.827	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636537	0.14386	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.24538	3.63;1.85;3.63;2.21;2.21;2.2	5.84	4.86	0.63082	.	0.608923	0.18371	N	0.143268	T	0.15739	0.0379	N	0.16368	0.405	0.09310	N	0.999999	B;B	0.11235	0.001;0.004	B;B	0.10450	0.002;0.005	T	0.09574	-1.0668	10	0.29301	T	0.29	0.1057	10.7645	0.46286	0.3072:0.6928:0.0:0.0	.	292;276	B4DHS6;O00534	.;VMA5A_HUMAN	L	276;276;276;276;276;292	ENSP00000407726:S276L;ENSP00000353485:S276L;ENSP00000376504:S276L;ENSP00000355070:S276L;ENSP00000404683:S276L;ENSP00000376501:S292L	ENSP00000353485:S276L	S	+	2	0	VWA5A	123498943	0.043000	0.20138	0.042000	0.18584	0.011000	0.07611	3.222000	0.51223	2.766000	0.95052	0.655000	0.94253	TCA	VWA5A	-	NULL		0.458	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	C	NM_014622		123993733	1	no_errors	ENST00000392748	ensembl	human	known	70_37	missense	SNP	0.026	T	T	123993733	C	T	123993733	3	4	184	1	0	0	0	0	1	0	0	0	17273	838	29	1	849	1	VWA5A	11	123993733	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	1271190	123993733	11012783	85	34227										
IGSF9B	22997	genome.wustl.edu	37	chr11	133801565	133801565	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctcaccttcaggacaagcctCgcaggggcagactggcccat	11	15	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr11:133801565C>T	ENST00000321016.8	-	9	1466	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	IGSF9B_ENST00000533871.2_Silent_p.A412A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	412	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGACAAGCCTCGCAGGGGCAG	0.617																																																	0													33	38	37					11																	133801565		2020	4178	6198	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1236G>A	11.37:g.133801565C>T			G5EA26	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A412	ENST00000321016.8	37	c.1236		11																																																																																			IGSF9B	-	smart_Ig_sub,pfscan_Ig-like		0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		C	XM_290502		133801565	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	silent	SNP	0.913	T	T	133801565	C	T	133801565	2	4	184	1	0	0	0	0	0	0	0	1	7626	871	31	1		1	IGSF9B	11	133801565	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	9807832	133801565	1204951	86	34228										
ZNF384	171017	genome.wustl.edu	37	chr12	6787340	6787340	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tcatcatcatcctcaggggaGaggacataagggtcattcat	10	9	6	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:6787340G>T	ENST00000396801.3	-	6	846	c.639C>A	c.(637-639)ctC>ctA	p.L213L	ZNF384_ENST00000355772.4_Silent_p.L158L|ZNF384_ENST00000361959.3_Silent_p.L213L|ZNF384_ENST00000396799.2_Silent_p.L213L|ZNF384_ENST00000319770.3_Silent_p.L197L|ZNF384_ENST00000396795.1_Silent_p.L213L	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	213					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCTCAGGGGAGAGGACATAAG	0.587			T	"EWSR1, TAF15 "	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													159	151	154					12																	6787340		2203	4300	6503	SO:0001819	synonymous_variant	171017			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.639C>A	12.37:g.6787340G>T			O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L213	ENST00000396801.3	37	c.639	CCDS44817.1	12																																																																																			ZNF384	-	NULL		0.587	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	G			6787340	-1	no_errors	ENST00000361959	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6787340	G	T	6787340	2	4	184	1	0	0	0	0	0	0	0	1	17905	929	33	3		3	ZNF384	12	6787340	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		6787340	127064555	87	34229										
MYF6	4618	genome.wustl.edu	37	chr12	81101604	81101604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aaggctctcctttgtatccaGggagtgatggtaccttgtcc	11	10	1	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:81101604G>A	ENST00000228641.3	+	1	328	c.106G>A	c.(106-108)Ggg>Agg	p.G36R		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	36					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTTGTATCCAGGGAGTGATGG	0.562																																																	0													85	87	86					12																	81101604		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.106G>A	12.37:g.81101604G>A	ENSP00000228641:p.Gly36Arg		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.G36R	ENST00000228641.3	37	c.106	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665660	0.47677	.	.	ENSG00000111046	ENST00000228641	T	0.75821	-0.97	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72830	-0.4174	10	0.07175	T	0.84	.	19.6517	0.95819	0.0:0.0:1.0:0.0	.	36	P23409	MYF6_HUMAN	R	36	ENSP00000228641:G36R	ENSP00000228641:G36R	G	+	1	0	MYF6	79625735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.626000	0.67777	2.662000	0.90505	0.655000	0.94253	GGG	MYF6	-	pfam_Basic,smart_Basic		0.562	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	G	NM_002469		81101604	1	no_errors	ENST00000228641	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81101604	G	A	81101604	3	1	184	1	0	0	0	0	1	0	0	0	10051	1000	35	4	108	4	MYF6	12	81101604	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	74314264	81101604	52750291	88	34230										
ATP2B1	490	genome.wustl.edu	37	chr12	90003733	90003733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ccattgcaaatccaacatctGctttctttagtgctgggcca	7	12	2	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:90003733G>T	ENST00000428670.3	-	15	2879	c.2423C>A	c.(2422-2424)gCa>gAa	p.A808E	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A808E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A808E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A551E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A808E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	808					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCCAACATCTGCTTTCTTTAG	0.368																																																	0													129	115	120					12																	90003733		2203	4300	6503	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2423C>A	12.37:g.90003733G>T	ENSP00000392043:p.Ala808Glu		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.A808E	ENST00000428670.3	37	c.2423	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.180002	0.94846	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.99214	-5.57;-5.57;-5.57;-5.57;-5.57	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.99842	4.835	0.80722	D	1	P;D;D	0.89917	0.947;0.999;1.0	P;D;D	0.79784	0.559;0.993;0.993	D	0.96726	0.9536	10	0.87932	D	0	-20.0594	20.3431	0.98773	0.0:0.0:1.0:0.0	.	808;808;808	P20020-3;P20020-2;P20020-6	.;.;.	E	808;808;808;808;551	ENSP00000261173:A808E;ENSP00000343599:A808E;ENSP00000352054:A808E;ENSP00000392043:A808E;ENSP00000376869:A551E	ENSP00000261173:A808E	A	-	2	0	ATP2B1	88527864	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GCA	ATP2B1	-	pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr		0.368	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	G	NM_001682		90003733	-1	no_errors	ENST00000261173	ensembl	human	known	70_37	missense	SNP	1.000	T	T	90003733	G	T	90003733	3	4	184	1	0	0	0	0	1	0	0	0	1140	1319	46	4	1425	4	ATP2B1	12	90003733	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	8902129	90003733	43848162	89	34231										
ACACB	32	genome.wustl.edu	37	chr12	109577475	109577475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ccaaagatgccggtcggcggAgaaactccctaccaccctcc	9	17	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:109577475A>G	ENST00000338432.7	+	2	384	c.265A>G	c.(265-267)Aga>Gga	p.R89G	ACACB_ENST00000377854.5_Missense_Mutation_p.R89G|ACACB_ENST00000377848.3_Missense_Mutation_p.R89G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	89					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGGTCGGCGGAGAAACTCCCT	0.637																																																	0													59	69	65					12																	109577475		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.265A>G	12.37:g.109577475A>G	ENSP00000341044:p.Arg89Gly		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R89G	ENST00000338432.7	37	c.265	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158487	0.57368	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.72	2.2	0.27929	.	0.365586	0.24231	N	0.040348	T	0.39306	0.1073	L	0.44542	1.39	0.09310	N	1	B	0.17038	0.02	B	0.17433	0.018	T	0.20338	-1.0278	10	0.33141	T	0.24	.	6.7374	0.23417	0.7514:0.0:0.2486:0.0	.	89	O00763	ACACB_HUMAN	G	89;64;89;89	ENSP00000341044:R89G;ENSP00000443494:R64G;ENSP00000367079:R89G;ENSP00000367085:R89G	ENSP00000341044:R89G	R	+	1	2	ACACB	108061858	0.000000	0.05858	0.011000	0.14972	0.702000	0.40608	0.336000	0.19823	1.007000	0.39238	0.528000	0.53228	AGA	ACACB	-	NULL		0.637	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	A	NM_001093		109577475	1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	0.000	G	G	109577475	A	G	109577475	3	3	184	1	0	0	0	0	1	0	0	0	107	296	11	5	267	5	ACACB	12	109577475	Missense_Mutation	SNP	A	TCGA-Q1-A6DW-01A-11D-A32I-09	19573742	109577475	24274420	90	34232										
KDM2B	84678	genome.wustl.edu	37	chr12	121880220	121880220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctgggccccagctggtgccgCagctcccggggggtgccgtt	17	15	0	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr12:121880220C>T	ENST00000377071.4	-	19	3096	c.3024G>A	c.(3022-3024)ctG>ctA	p.L1008L	KDM2B_ENST00000542973.1_Silent_p.L376L|KDM2B_ENST00000377069.4_Silent_p.L939L|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1008					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCTGGTGCCGCAGCTCCCGGG	0.736																																																	0													6	8	7					12																	121880220		1776	3879	5655	SO:0001819	synonymous_variant	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3024G>A	12.37:g.121880220C>T			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L1008	ENST00000377071.4	37	c.3024	CCDS41850.1	12																																																																																			KDM2B	-	NULL		0.736	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	C	NM_032590		121880220	-1	no_errors	ENST00000377071	ensembl	human	known	70_37	silent	SNP	1.000	T	T	121880220	C	T	121880220	2	4	184	1	0	0	0	0	0	0	0	1	8145	697	25	4		4	KDM2B	12	121880220	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	12302745	121880220	11971675	91	34233										
SLC7A1	6541	genome.wustl.edu	37	chr13	30090363	30090363	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	acgaagatgctcaggatgggGagcactggcaggaagggaac	17	7	1	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr13:30090363G>T	ENST00000380752.5	-	12	2084	c.1698C>A	c.(1696-1698)ctC>ctA	p.L566L	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	566					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCAGGATGGGGAGCACTGGCA	0.532																																																	0													83	62	69					13																	30090363		2203	4300	6503	SO:0001819	synonymous_variant	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1698C>A	13.37:g.30090363G>T			Q5JR50	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.L566	ENST00000380752.5	37	c.1698	CCDS9333.1	13																																																																																			SLC7A1	-	pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease		0.532	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	G	NM_003045		30090363	-1	no_errors	ENST00000380752	ensembl	human	known	70_37	silent	SNP	0.028	T	T	30090363	G	T	30090363	2	4	184	1	0	0	0	0	0	0	0	1	14722	1161	41	3		3	SLC7A1	13	30090363	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		30090363	85079515	92	34234										
COL4A2	1284	genome.wustl.edu	37	chr13	111098209	111098209	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tggatggctatcaagggcctGatggaccccggggacccaag	15	11	1	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr13:111098209G>C	ENST00000360467.5	+	17	1297	c.991G>C	c.(991-993)Gat>Cat	p.D331H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	331	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCAAGGGCCTGATGGACCCCG	0.522																																																	0													106	109	108					13																	111098209		1928	4124	6052	SO:0001583	missense	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.991G>C	13.37:g.111098209G>C	ENSP00000353654:p.Asp331His		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D331H	ENST00000360467.5	37	c.991	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	8.127	0.782273	0.16189	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	3.74	-0.26	0.12967	.	1.024090	0.07811	N	0.958102	D	0.86485	0.5944	L	0.37561	1.115	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.71358	-0.4617	10	0.36615	T	0.2	.	0.7532	0.00994	0.2297:0.1865:0.393:0.1908	.	331	P08572	CO4A2_HUMAN	H	331	ENSP00000353654:D331H	ENSP00000257309:D331H	D	+	1	0	COL4A2	109896210	0.000000	0.05858	0.000000	0.03702	0.564000	0.35744	0.124000	0.15728	-0.090000	0.12462	0.643000	0.83706	GAT	COL4A2	-	pfam_Collagen		0.522	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	G	NM_001846		111098209	1	no_errors	ENST00000360467	ensembl	human	known	70_37	missense	SNP	0.000	C	C	111098209	G	C	111098209	3	2	184	1	0	0	0	0	1	0	0	0	3695	1290	45	1	1053	1	COL4A2	13	111098209	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	81007846	111098209	4071669	93	34235										
TMEM55B	90809	genome.wustl.edu	37	chr14	20927568	20927568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctttcctgcagtgaggacaaCgtgccaaagtgcggtctgtg	13	10	1	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr14:20927568C>A	ENST00000250489.4	-	5	864	c.578G>T	c.(577-579)cGt>cTt	p.R193L	TMEM55B_ENST00000398020.4_Missense_Mutation_p.R200L|TMEM55B_ENST00000554028.1_Missense_Mutation_p.R26L			Q86T03	TM55B_HUMAN	transmembrane protein 55B	193						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GTGAGGACAACGTGCCAAAGT	0.433																																																	0													259	250	253					14																	20927568		2203	4300	6503	SO:0001583	missense	90809			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"chromosome 14 open reading frame 9"	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.578G>T	14.37:g.20927568C>A	ENSP00000250489:p.Arg193Leu		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.R200L	ENST00000250489.4	37	c.599	CCDS9551.1	14	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594240	0.66219	.	.	ENSG00000165782	ENST00000250489;ENST00000398020;ENST00000554028	.	.	.	5.16	5.16	0.70880	.	0.109104	0.64402	D	0.000005	T	0.55000	0.1893	M	0.66378	2.025	0.80722	D	1	P;P	0.43909	0.821;0.785	B;B	0.39531	0.302;0.2	T	0.62229	-0.6898	9	0.62326	D	0.03	-7.6952	11.6815	0.51461	0.0:0.9143:0.0:0.0857	.	193;200	Q86T03;Q86T03-2	TM55B_HUMAN;.	L	193;200;26	.	ENSP00000250489:R193L	R	-	2	0	TMEM55B	19997408	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.503000	0.53340	2.407000	0.81776	0.650000	0.86243	CGT	TMEM55B	-	pfam_Transmembrane_protein_55A/B		0.433	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM55B	HGNC	protein_coding	OTTHUMT00000073643.3	C	NM_144568		20927568	-1	no_errors	ENST00000398020	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20927568	C	A	20927568	3	1	184	1	0	0	0	0	1	0	0	0	16212	536	19	2	267	2	TMEM55B	14	20927568	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09		20927568	86421972	94	34236										
C14orf183	196913	genome.wustl.edu	37	chr14	50558407	50558407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	cccggcagcagcagcacttcCctctctgagcagcgttggca	11	16	1	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr14:50558407C>A	ENST00000305273.1	-	2	160	c.161G>T	c.(160-162)gGg>gTg	p.G54V	RP11-58E21.7_ENST00000556019.2_lincRNA|RP11-58E21.5_ENST00000603228.1_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	54										endometrium(2)|large_intestine(2)|lung(3)	7						GCAGCACTTCCCTCTCTGAGC	0.612																																																	0													49	49	49					14																	50558407		2067	4220	6287	SO:0001583	missense	196913			AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.161G>T	14.37:g.50558407C>A	ENSP00000303234:p.Gly54Val			Missense_Mutation	SNP	NULL	p.G54V	ENST00000305273.1	37	c.161	CCDS45101.1	14	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994459	0.19043	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.24	0.876	0.19138	.	.	.	.	.	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	P	0.52316	0.952	B	0.40534	0.332	T	0.14531	-1.0469	8	0.87932	D	0	.	4.6718	0.12692	0.0:0.2981:0.0:0.7019	.	54	Q8WXQ3	CN183_HUMAN	V	54	.	ENSP00000303234:G54V	G	-	2	0	C14orf183	49628157	0.000000	0.05858	0.004000	0.12327	0.019000	0.09904	0.051000	0.14141	0.177000	0.19895	0.609000	0.83330	GGG	C14orf183	-	NULL		0.612	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C14orf183	HGNC	protein_coding	OTTHUMT00000410705.1	C	NM_001014830		50558407	-1	no_errors	ENST00000305273	ensembl	human	novel	70_37	missense	SNP	0.005	A	A	50558407	C	A	50558407	3	1	184	1	0	0	0	0	1	0	0	0	1770	623	22	4	828	4	C14orf183	14	50558407	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	29630839	50558407	56791133	95	34237										
SERPINA9	327657	genome.wustl.edu	37	chr14	94936056	94936056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tgagggaatacacctgtgagGcaggggtgctctttgtggag	17	6	1	2	rs199717292		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr14:94936056G>T	ENST00000380365.3	-	2	200	c.122C>A	c.(121-123)gCc>gAc	p.A41D	SERPINA9_ENST00000298845.7_Missense_Mutation_p.A59D|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.A59D|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000424550.2_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	41					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACCTGTGAGGCAGGGGTGCT	0.572																																																	0													86	89	88					14																	94936056		2021	4181	6202	SO:0001583	missense	327657			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.122C>A	14.37:g.94936056G>T	ENSP00000369723:p.Ala41Asp		B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Nonsense_Mutation	SNP	NULL	p.C86*	ENST00000380365.3	37	c.258		14	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753427	0.31046	.	.	ENSG00000170054	ENST00000298845;ENST00000337425;ENST00000380365	D;D;D	0.87966	-2.32;-2.32;-2.32	3.99	1.19	0.21007	Serpin domain (1);	2.716750	0.02465	U	0.086959	T	0.73016	0.3533	N	0.08118	0	0.09310	N	1	B;B;P	0.47677	0.014;0.275;0.899	B;B;B	0.39258	0.009;0.142;0.295	T	0.69300	-0.5181	10	0.34782	T	0.22	.	4.3254	0.11038	0.2101:0.3408:0.4491:0.0	.	41;59;59	Q86WD7;Q86WD7-7;Q86WD7-2	SPA9_HUMAN;.;.	D	59;59;41	ENSP00000298845:A59D;ENSP00000337133:A59D;ENSP00000369723:A41D	ENSP00000298845:A59D	A	-	2	0	SERPINA9	94005809	0.000000	0.05858	0.001000	0.08648	0.475000	0.33008	0.121000	0.15667	0.685000	0.31468	0.313000	0.20887	GCC	SERPINA9	-	NULL		0.572	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2	G	NM_175739		94936056	-1	no_errors	ENST00000538527	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	94936056	G	T	94936056	3	4	184	1	0	0	0	0	1	0	0	0	14125	1203	42	4	1147	4	SERPINA9	14	94936056	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	44377649	94936056	12413484	96	34238										
CYP46A1	10858	genome.wustl.edu	37	chr14	100192553	100192553	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gttcacctacttccccttctCcctgggccaccgctcctgca	6	20	2	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr14:100192553C>G	ENST00000261835.3	+	14	1396	c.1292C>G	c.(1291-1293)tCc>tGc	p.S431C	CYP46A1_ENST00000423126.2_Missense_Mutation_p.S334C|CYP46A1_ENST00000554176.1_Missense_Mutation_p.S268C	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	431					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TTCCCCTTCTCCCTGGGCCAC	0.622																																																	0													73	69	71					14																	100192553		2203	4300	6503	SO:0001583	missense	10858			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1292C>G	14.37:g.100192553C>G	ENSP00000261835:p.Ser431Cys		B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.S431C	ENST00000261835.3	37	c.1292	CCDS9954.1	14	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376687	0.61735	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176	T;T;T	0.75367	-0.93;-0.93;-0.93	3.68	3.68	0.42216	Cytochrome P450, conserved site (1);	0.196730	0.44097	D	0.000486	D	0.83161	0.5194	M	0.80616	2.505	0.49798	D	0.999823	D;D	0.59767	0.986;0.976	P;P	0.60345	0.873;0.724	D	0.85688	0.1305	10	0.87932	D	0	.	11.6245	0.51136	0.0:1.0:0.0:0.0	.	268;431	Q8N2B0;Q9Y6A2	.;CP46A_HUMAN	C	431;334;268	ENSP00000261835:S431C;ENSP00000405779:S334C;ENSP00000450553:S268C	ENSP00000261835:S431C	S	+	2	0	CYP46A1	99262306	0.997000	0.39634	0.997000	0.53966	0.911000	0.54048	4.824000	0.62701	1.994000	0.58287	0.561000	0.74099	TCC	CYP46A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.622	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP46A1	HGNC	protein_coding	OTTHUMT00000413814.1	C			100192553	1	no_errors	ENST00000261835	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100192553	C	G	100192553	3	3	184	1	0	0	0	0	1	0	0	0	4187	855	30	1	1346	1	CYP46A1	14	100192553	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	5256497	100192553	7156987	97	34239										
SPTBN5	51332	genome.wustl.edu	37	chr15	42149153	42149153	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	acccaggccatttcctcgtcGgcgtccctgaagaacttcaa	8	15	1	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr15:42149153G>T	ENST00000320955.6	-	52	8933	c.8706C>A	c.(8704-8706)gcC>gcA	p.A2902A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2902					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TTTCCTCGTCGGCGTCCCTGA	0.677																																																	0													13	16	15					15																	42149153		1938	4141	6079	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8706C>A	15.37:g.42149153G>T				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A2902	ENST00000320955.6	37	c.8706		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.677	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42149153	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.000	T	T	42149153	G	T	42149153	2	4	184	1	0	0	0	0	0	0	0	1	15152	1103	39	2		2	SPTBN5	15	42149153	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		42149153	60382239	98	34240										
DPP8	54878	genome.wustl.edu	37	chr15	65759487	65759487	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggatttacgtaactgactacGtacaggtgatgctctaaagg	11	7	1	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr15:65759487G>C	ENST00000341861.5	-	13	3239	c.1659C>G	c.(1657-1659)taC>taG	p.Y553*	DPP8_ENST00000300141.6_Nonsense_Mutation_p.Y537*|DPP8_ENST00000321118.7_Nonsense_Mutation_p.Y553*|DPP8_ENST00000321147.6_Nonsense_Mutation_p.Y553*|DPP8_ENST00000339244.5_Nonsense_Mutation_p.Y380*|DPP8_ENST00000559233.1_Nonsense_Mutation_p.Y553*|DPP8_ENST00000358939.4_Nonsense_Mutation_p.Y537*	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	553					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AACTGACTACGTACAGGTGAT	0.418																																																	0													122	112	115					15																	65759487		2201	4299	6500	SO:0001587	stop_gained	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1659C>G	15.37:g.65759487G>C	ENSP00000339208:p.Tyr553*		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Nonsense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.Y553*	ENST00000341861.5	37	c.1659	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992466	0.74703	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	.	.	.	5.56	-7.23	0.01480	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8115	18.3586	0.90367	0.7123:0.0:0.2877:0.0	.	.	.	.	X	553;537;537;553;553;380;553	.	ENSP00000300141:Y537X	Y	-	3	2	DPP8	63546540	0.005000	0.15991	0.563000	0.28383	0.751000	0.42716	-1.069000	0.03444	-1.542000	0.01725	-0.444000	0.05651	TAC	DPP8	-	pfam_Peptidase_S9B		0.418	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	G	NM_017743		65759487	-1	no_errors	ENST00000341861	ensembl	human	known	70_37	nonsense	SNP	0.289	C	C	65759487	G	C	65759487	4	2	184	1	0	0	0	0	0	1	0	0	4742	1140	40	2	1069	2	DPP8	15	65759487	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	23610334	65759487	36771905	99	34241										
PKD1	5310	genome.wustl.edu	37	chr16	2168727	2168727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gcagaggctggccagccaggGagccaggcccagcacacgtg	16	14	0	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:2168727G>A	ENST00000262304.4	-	4	687	c.479C>T	c.(478-480)tCc>tTc	p.S160F	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.S160F	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	160	LRRCT.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCAGCCAGGGAGCCAGGCCC	0.692																																																	0													1	1	1					16																	2168727		214	607	821	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.479C>T	16.37:g.2168727G>A	ENSP00000262304:p.Ser160Phe		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.S160F	ENST00000262304.4	37	c.479	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	6.145	0.394959	0.11638	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.36699	1.24;1.24	4.58	2.29	0.28610	Cysteine-rich flanking region, C-terminal (1);Polycystin cation channel (1);	0.474042	0.21036	N	0.081256	T	0.19366	0.0465	L	0.33189	0.99	0.09310	N	1	P;P	0.42735	0.63;0.788	B;B	0.34242	0.178;0.157	T	0.21042	-1.0257	10	0.62326	D	0.03	.	3.4976	0.07661	0.0902:0.2038:0.4756:0.2305	.	160;160	P98161-3;P98161	.;PKD1_HUMAN	F	160;160;190	ENSP00000262304:S160F;ENSP00000399501:S160F	ENSP00000262304:S160F	S	-	2	0	PKD1	2108728	0.455000	0.25736	0.345000	0.25642	0.808000	0.45660	0.132000	0.15891	2.104000	0.64026	0.500000	0.49745	TCC	PKD1	-	smart_Cys-rich_flank_reg_C,tigrfam_Polycystin_cat		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2168727	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.245	A	A	2168727	G	A	2168727	3	1	184	1	0	0	0	0	1	0	0	0	11987	1174	41	1	12604	1	PKD1	16	2168727	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		2168727	88186026	100	34242										
GLYR1	84656	genome.wustl.edu	37	chr16	4861264	4861264	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ttctgaatgtatttcaggtaGaaatcaggcttaaagtttcc	8	6	3	2	rs150744754		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:4861264G>C	ENST00000321919.9	-	15	1570	c.1494C>G	c.(1492-1494)ttC>ttG	p.F498L	GLYR1_ENST00000591451.1_Missense_Mutation_p.F492L|GLYR1_ENST00000381983.3_Missense_Mutation_p.F481L|GLYR1_ENST00000436648.5_Missense_Mutation_p.F417L	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	498					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ATTTCAGGTAGAAATCAGGCT	0.473																																																	0													148	138	141					16																	4861264		2197	4300	6497	SO:0001583	missense	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1494C>G	16.37:g.4861264G>C	ENSP00000322716:p.Phe498Leu		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.F498L	ENST00000321919.9	37	c.1494	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470701	0.43942	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.43688	0.94;0.94;0.94	5.72	5.72	0.89469	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.048803	0.85682	D	0.000000	T	0.41743	0.1172	M	0.66506	2.035	0.58432	D	0.999993	B;B;P;B	0.39376	0.38;0.334;0.67;0.273	B;B;B;B	0.41440	0.273;0.105;0.357;0.078	T	0.20042	-1.0287	10	0.09843	T	0.71	-13.362	12.0399	0.53446	0.0801:0.0:0.9199:0.0	.	417;492;481;498	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	L	498;481;417	ENSP00000322716:F498L;ENSP00000371413:F481L;ENSP00000390276:F417L	ENSP00000322716:F498L	F	-	3	2	GLYR1	4801265	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.026000	0.57232	2.700000	0.92200	0.561000	0.74099	TTC	GLYR1	-	superfamily_6-PGluconate_DH_C-like		0.473	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	G	NM_032569		4861264	-1	no_errors	ENST00000321919	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4861264	G	C	4861264	3	2	184	1	0	0	0	0	1	0	0	0	6502	933	33	1	175	1	GLYR1	16	4861264	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	2692537	4861264	85493489	101	34243										
TMC7	79905	genome.wustl.edu	37	chr16	19070741	19070741	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tctgtcttgtgttgcagcctCatcatgttttacttcattgc	7	10	5	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:19070741C>T	ENST00000304381.5	+	15	2161	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	TMC7_ENST00000569532.1_Silent_p.L677L|TMC7_ENST00000421369.3_Silent_p.L567L	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	677					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GTTGCAGCCTCATCATGTTTT	0.468																																																	0													198	174	182					16																	19070741		2197	4300	6497	SO:0001819	synonymous_variant	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2031C>T	16.37:g.19070741C>T			E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	pfam_TMC	p.L677	ENST00000304381.5	37	c.2031	CCDS10573.1	16																																																																																			TMC7	-	NULL		0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	C	NM_024847		19070741	1	no_errors	ENST00000304381	ensembl	human	known	70_37	silent	SNP	0.031	T	T	19070741	C	T	19070741	2	4	184	1	0	0	0	0	0	0	0	1	16020	813	29	1		1	TMC7	16	19070741	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	14209477	19070741	71284012	102	34244										
SLC12A3	6559	genome.wustl.edu	37	chr16	56906600	56906600	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tccagaacttggtgcctgacTggcggggtccagatggcacc	14	12	0	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:56906600T>A	ENST00000563236.1	+	8	1022	c.997T>A	c.(997-999)Tgg>Agg	p.W333R	SLC12A3_ENST00000438926.2_Missense_Mutation_p.W333R|SLC12A3_ENST00000566786.1_Missense_Mutation_p.W332R|SLC12A3_ENST00000262502.5_Missense_Mutation_p.W332R			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	333					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGTGCCTGACTGGCGGGGTCC	0.577																																																	0													79	71	73					16																	56906600		2198	4300	6498	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.997T>A	16.37:g.56906600T>A	ENSP00000456149:p.Trp333Arg		A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.W333R	ENST00000563236.1	37	c.997	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244526	0.79912	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.72	5.72	0.89469	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	P;D;D	0.87578	0.831;0.998;0.997	T	0.82612	-0.0371	9	0.87932	D	0	.	15.9826	0.80125	0.0:0.0:0.0:1.0	.	332;333;333	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	R	332;333	.	ENSP00000262502:W333R	W	+	1	0	SLC12A3	55464101	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	7.945000	0.87732	2.182000	0.69389	0.459000	0.35465	TGG	SLC12A3	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.577	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	T			56906600	1	no_errors	ENST00000438926	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56906600	T	A	56906600	3	1	184	1	0	0	0	0	1	0	0	0	14414	1580	55	5	1027	5	SLC12A3	16	56906600	Missense_Mutation	SNP	T	TCGA-Q1-A6DW-01A-11D-A32I-09	37835859	56906600	33448153	103	34245										
FHOD1	29109	genome.wustl.edu	37	chr16	67268278	67268278	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	acctgggtgtccacccgcctCattgggcatggccccggcaa	12	16	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:67268278C>T	ENST00000258201.4	-	12	1664	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	473					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCACCCGCCTCATTGGGCATG	0.642																																																	0													24	26	25					16																	67268278		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1417G>A	16.37:g.67268278C>T	ENSP00000258201:p.Glu473Lys		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E473K	ENST00000258201.4	37	c.1417	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532459	0.27387	.	.	ENSG00000135723	ENST00000258201	T	0.25579	1.79	5.18	5.18	0.71444	.	0.550992	0.18150	N	0.150138	T	0.20129	0.0484	N	0.19112	0.55	0.26337	N	0.977425	P;P	0.46784	0.884;0.455	P;B	0.46419	0.516;0.091	T	0.06127	-1.0844	10	0.08381	T	0.77	.	14.2095	0.65755	0.0:1.0:0.0:0.0	.	52;473	B4DVN5;Q9Y613	.;FHOD1_HUMAN	K	473	ENSP00000258201:E473K	ENSP00000258201:E473K	E	-	1	0	FHOD1	65825779	1.000000	0.71417	0.066000	0.19879	0.014000	0.08584	4.184000	0.58323	2.418000	0.82041	0.455000	0.32223	GAG	FHOD1	-	NULL		0.642	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	C			67268278	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	missense	SNP	0.578	T	T	67268278	C	T	67268278	3	4	184	1	0	0	0	0	1	0	0	0	5900	835	29	1	2121	1	FHOD1	16	67268278	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	10361678	67268278	23086475	104	34246										
ZC3H18	124245	genome.wustl.edu	37	chr16	88666221	88666221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tttaaaaaaagcaactattcGaaaagaacaggagcctgatt	7	6	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr16:88666221G>A	ENST00000301011.5	+	6	1153	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R342Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	318						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCAACTATTCGAAAAGAACAG	0.413																																					Ovarian(121;375 2276 20373 38669)												0													124	145	138					16																	88666221		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.953G>A	16.37:g.88666221G>A	ENSP00000301011:p.Arg318Gln		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.R318Q	ENST00000301011.5	37	c.953	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795242	0.90453	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.60424	0.28;0.19	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.63843	1.955	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.76683	-0.2869	10	0.72032	D	0.01	-13.5015	16.815	0.85732	0.0:0.0:1.0:0.0	.	342;342;318	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	Q	318;342;342;201	ENSP00000301011:R318Q;ENSP00000416951:R342Q	ENSP00000289509:R342Q	R	+	2	0	ZC3H18	87193722	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.201000	0.95017	2.390000	0.81377	0.561000	0.74099	CGA	ZC3H18	-	NULL		0.413	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	G	NM_144604		88666221	1	no_errors	ENST00000301011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	88666221	G	A	88666221	3	1	184	1	0	0	0	0	1	0	0	0	17598	1058	37	1	971	1	ZC3H18	16	88666221	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	21397943	88666221	1688532	105	34247										
ATP2A3	489	genome.wustl.edu	37	chr17	3833611	3833611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctacctgttgagggcattgcAcatttcaatggtcacgagca	10	10	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:3833611A>G	ENST00000352011.3	-	18	2782	c.2728T>C	c.(2728-2730)Tgc>Cgc	p.C910R	ATP2A3_ENST00000309890.7_Missense_Mutation_p.C910R|ATP2A3_ENST00000397035.3_Missense_Mutation_p.C910R|ATP2A3_ENST00000397041.3_Missense_Mutation_p.C910R|ATP2A3_ENST00000397039.1_Missense_Mutation_p.C94R|ATP2A3_ENST00000397043.3_Missense_Mutation_p.C910R|ATP2A3_ENST00000359983.3_Missense_Mutation_p.C910R			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	910					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGGGCATTGCACATTTCAATG	0.622																																					GBM(32;29 774 15719 37967)												0													73	58	63					17																	3833611		2201	4297	6498	SO:0001583	missense	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2728T>C	17.37:g.3833611A>G	ENSP00000301387:p.Cys910Arg		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.C910R	ENST00000352011.3	37	c.2728	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571715	0.65765	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	3.92	3.92	0.45320	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.053528	0.85682	D	0.000000	D	0.97539	0.9194	M	0.85710	2.77	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.996;0.995;0.998;0.995	D;D;P;D;P;P;P	0.83275	0.996;0.909;0.839;0.93;0.885;0.885;0.885	D	0.97983	1.0350	10	0.72032	D	0.01	.	12.9617	0.58462	1.0:0.0:0.0:0.0	.	19;910;910;910;910;910;910	Q6JHX1;Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;.;AT2A3_HUMAN;.;.;.	R	910;94;910;910;910;910;910;910	ENSP00000380236:C910R;ENSP00000380232:C94R;ENSP00000301387:C910R;ENSP00000353072:C910R;ENSP00000380234:C910R;ENSP00000312577:C910R;ENSP00000380229:C910R	ENSP00000312577:C910R	C	-	1	0	ATP2A3	3780360	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.135000	0.94478	2.013000	0.59113	0.533000	0.62120	TGC	ATP2A3	-	pfam_ATPase_P-typ_cation-transptr_C		0.622	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	A	NM_174953		3833611	-1	no_errors	ENST00000359983	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3833611	A	G	3833611	3	3	184	1	0	0	0	0	1	0	0	0	1139	159	6	5	498	5	ATP2A3	17	3833611	Missense_Mutation	SNP	A	TCGA-Q1-A6DW-01A-11D-A32I-09		3833611	77361599	106	34248										
MYO15A	51168	genome.wustl.edu	37	chr17	18023258	18023258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	actacaccgtcccctatgccGaaggcgtctatggcggtggg	13	13	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:18023258G>A	ENST00000205890.5	+	2	1482	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	382					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCTATGCCGAAGGCGTCTA	0.602																																																	0													74	83	80					17																	18023258		1956	4138	6094	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1144G>A	17.37:g.18023258G>A	ENSP00000205890:p.Glu382Lys		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E382K	ENST00000205890.5	37	c.1144	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504536	0.26949	.	.	ENSG00000091536	ENST00000205890	D	0.89415	-2.51	4.72	4.72	0.59763	.	.	.	.	.	D	0.85080	0.5615	L	0.27053	0.805	0.80722	D	1	D	0.61080	0.989	P	0.47573	0.55	D	0.86432	0.1761	9	0.56958	D	0.05	.	13.9053	0.63831	0.0:0.0:1.0:0.0	.	382	Q9UKN7	MYO15_HUMAN	K	382	ENSP00000205890:E382K	ENSP00000205890:E382K	E	+	1	0	MYO15A	17963983	0.008000	0.16893	0.342000	0.25602	0.046000	0.14306	1.061000	0.30542	2.569000	0.86673	0.561000	0.74099	GAA	MYO15A	-	NULL		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18023258	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.655	A	A	18023258	G	A	18023258	3	1	184	1	0	0	0	0	1	0	0	0	10086	1059	37	1	1146	1	MYO15A	17	18023258	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	14189647	18023258	63171952	107	34249										
ALDH3A2	224	genome.wustl.edu	37	chr17	19555037	19555037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tggtgctgataatcggagctTggaattaccccttcgttctc	10	10	1	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:19555037T>C	ENST00000176643.6	+	2	777	c.331T>C	c.(331-333)Tgg>Cgg	p.W111R	ALDH3A2_ENST00000579855.1_Missense_Mutation_p.W111R|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.W111R|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.W111R|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.W111R|Y_RNA_ENST00000578640.1_RNA			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	111					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					AATCGGAGCTTGGAATTACCC	0.488																																																	0													162	147	152					17																	19555037		2203	4300	6503	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.331T>C	17.37:g.19555037T>C	ENSP00000176643:p.Trp111Arg		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.W111R	ENST00000176643.6	37	c.331	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058077	0.76074	.	.	ENSG00000072210	ENST00000446398;ENST00000176643;ENST00000395575;ENST00000339618	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.53	5.53	0.82687	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.053575	0.85682	D	0.000000	D	0.94984	0.8377	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96474	0.9351	10	0.87932	D	0	-11.6524	14.9972	0.71443	0.0:0.0:0.0:1.0	.	111;111	P51648;P51648-2	AL3A2_HUMAN;.	R	111	ENSP00000395845:W111R;ENSP00000176643:W111R;ENSP00000378942:W111R;ENSP00000345774:W111R	ENSP00000176643:W111R	W	+	1	0	ALDH3A2	19495629	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	7.780000	0.85658	2.324000	0.78689	0.533000	0.62120	TGG	ALDH3A2	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)		0.488	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	T			19555037	1	no_errors	ENST00000339618	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19555037	T	C	19555037	3	2	184	1	0	0	0	0	1	0	0	0	498	1812	63	5	337	5	ALDH3A2	17	19555037	Missense_Mutation	SNP	T	TCGA-Q1-A6DW-01A-11D-A32I-09	1531779	19555037	61640173	108	34250										
BPTF	2186	genome.wustl.edu	37	chr17	65908943	65908943	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	cggcagtgtggacatcatctCtgtaaaggagcagagcaaaa	12	8	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:65908943C>G	ENST00000321892.4	+	13	5382	c.5321C>G	c.(5320-5322)tCt>tGt	p.S1774C	BPTF_ENST00000306378.6_Missense_Mutation_p.S1648C|BPTF_ENST00000424123.3_Missense_Mutation_p.S1635C|BPTF_ENST00000335221.5_Missense_Mutation_p.S1774C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1774	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACATCATCTCTGTAAAGGAG	0.512																																																	0													84	69	74					17																	65908943		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5321C>G	17.37:g.65908943C>G	ENSP00000315454:p.Ser1774Cys		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1774C	ENST00000321892.4	37	c.5321		17	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923684	0.34002	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.65916	-0.17;-0.18;-0.17	5.47	5.47	0.80525	.	.	.	.	.	T	0.72358	0.3450	L	0.32530	0.975	0.42835	D	0.994036	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.72357	-0.4318	9	0.48119	T	0.1	-10.6731	19.6865	0.95981	0.0:1.0:0.0:0.0	.	1648;1774	Q12830-2;Q12830-4	.;.	C	1648;1774;1774	ENSP00000307208:S1648C;ENSP00000334351:S1774C;ENSP00000315454:S1774C	ENSP00000307208:S1648C	S	+	2	0	BPTF	63339405	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.279000	0.58953	2.728000	0.93425	0.650000	0.86243	TCT	BPTF	-	NULL		0.512	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65908943	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	1.000	G	G	65908943	C	G	65908943	3	3	184	1	0	0	0	0	1	0	0	0	1498	913	32	1	5371	1	BPTF	17	65908943	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	46353906	65908943	15286267	109	34251										
CYTH1	9267	genome.wustl.edu	37	chr17	76672235	76672235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gagcatttcgtagaaagggtCcctgctgatggctgctctgg	14	9	1	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr17:76672235C>A	ENST00000446868.3	-	14	1205	c.1135G>T	c.(1135-1137)Gac>Tac	p.D379Y	CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.D378Y|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000585509.1_Missense_Mutation_p.D320Y|CYTH1_ENST00000361101.4_Missense_Mutation_p.D379Y|CYTH1_ENST00000589297.1_Missense_Mutation_p.D320Y			Q15438	CYH1_HUMAN	cytohesin 1	379					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TAGAAAGGGTCCCTGCTGATG	0.577																																																	0													75	57	63					17																	76672235		2203	4300	6503	SO:0001583	missense	9267			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.1135G>T	17.37:g.76672235C>A	ENSP00000389095:p.Asp379Tyr		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.D379Y	ENST00000446868.3	37	c.1135		17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034784	0.93575	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763	T;T	0.15487	2.42;2.42	5.08	5.08	0.68730	.	0.258930	0.42548	D	0.000681	T	0.44912	0.1316	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.46219	-0.9207	10	0.72032	D	0.01	.	18.4292	0.90619	0.0:1.0:0.0:0.0	.	378	Q15438-2	.	Y	379;379;320;320;378	ENSP00000389095:D379Y;ENSP00000354398:D379Y	ENSP00000262763:D378Y	D	-	1	0	CYTH1	74183830	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.659000	0.83766	2.521000	0.84997	0.591000	0.81541	GAC	CYTH1	-	smart_Pleckstrin_homology		0.577	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CYTH1	HGNC	protein_coding	OTTHUMT00000317099.1	C	NM_004762		76672235	-1	no_errors	ENST00000361101	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76672235	C	A	76672235	3	1	184	1	0	0	0	0	1	0	0	0	4208	855	30	3	65	3	CYTH1	17	76672235	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	10763292	76672235	4522975	110	34252										
RAX	30062	genome.wustl.edu	37	chr18	56936292	56936292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gtgctccttggctttcagacGcagcgccgcgatgctgctgt	13	13	1	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr18:56936292G>A	ENST00000334889.3	-	3	1171	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	329					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCTTTCAGACGCAGCGCCGCG	0.716																																					GBM(150;770 1898 17679 24325 37807)												0													25	24	24					18																	56936292		2181	4278	6459	SO:0001583	missense	30062			AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.985C>T	18.37:g.56936292G>A	ENSP00000334813:p.Arg329Cys		Q86V11	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.R329C	ENST00000334889.3	37	c.985	CCDS11972.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238580	0.79800	.	.	ENSG00000134438	ENST00000334889	D	0.99985	-11.94	4.45	4.45	0.53987	Paired-like homeodomain protein, OAR (2);	0.000000	0.85682	D	0.000000	D	0.99985	0.9996	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	D	0.93101	0.6508	10	0.87932	D	0	.	10.0215	0.42046	0.0:0.0:0.6711:0.3289	.	329	Q9Y2V3	RX_HUMAN	C	329	ENSP00000334813:R329C	ENSP00000334813:R329C	R	-	1	0	RAX	55087272	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.664000	0.46783	2.018000	0.59344	0.561000	0.74099	CGT	RAX	-	pfam_OAR_dom,pfscan_OAR_dom		0.716	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAX	HGNC	protein_coding	OTTHUMT00000256128.2	G			56936292	-1	no_errors	ENST00000334889	ensembl	human	known	70_37	missense	SNP	1.000	A	A	56936292	G	A	56936292	3	1	184	1	0	0	0	0	1	0	0	0	13126	1087	38	2	59	2	RAX	18	56936292	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		56936292	21140956	111	34253										
FGF22	27006	genome.wustl.edu	37	chr19	643436	643436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tacaccgtggactgcaggttCcgggagcgcatcgaagagaa	14	10	0	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:643436C>G	ENST00000215530.5	+	3	376	c.345C>G	c.(343-345)ttC>ttG	p.F115L	FGF22_ENST00000586042.2_Missense_Mutation_p.P108A|FGF22_ENST00000166133.3_Missense_Mutation_p.F74L	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	115					cell differentiation (GO:0030154)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)				endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGCAGGTTCCGGGAGCGCA	0.741																																																	0													24	24	24					19																	643436		2198	4292	6490	SO:0001583	missense	27006				CCDS12037.1, CCDS74241.1	19p13.3	2008-07-04				ENSG00000070388			3679	protein-coding gene	gene with protein product		605831				15260994, 16597617	Standard	NM_020637		Approved		uc010xfq.2	Q9HCT0		ENST00000215530.5:c.345C>G	19.37:g.643436C>G	ENSP00000215530:p.Phe115Leu		B2RPH4	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.F115L	ENST00000215530.5	37	c.345	CCDS12037.1	19	.	.	.	.	.	.	.	.	.	.	c	22.0	4.233672	0.79688	.	.	ENSG00000070388	ENST00000215530;ENST00000166133	D;D	0.94330	-3.4;-3.4	4.45	3.39	0.38822	.	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.82193	2.58	0.50039	D	0.999847	B	0.27910	0.193	B	0.32022	0.139	D	0.90741	0.4650	10	0.36615	T	0.2	.	10.2056	0.43112	0.0:0.9032:0.0:0.0968	.	115	Q9HCT0	FGF22_HUMAN	L	115;74	ENSP00000215530:F115L;ENSP00000166133:F74L	ENSP00000166133:F74L	F	+	3	2	FGF22	594436	0.998000	0.40836	1.000000	0.80357	0.955000	0.61496	1.259000	0.32956	2.022000	0.59522	0.549000	0.68633	TTC	FGF22	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF		0.741	FGF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF22	HGNC	protein_coding	OTTHUMT00000452103.1	C			643436	1	no_errors	ENST00000215530	ensembl	human	known	70_37	missense	SNP	1.000	G	G	643436	C	G	643436	3	3	184	1	0	0	0	0	1	0	0	0	5869	854	30	1	355	1	FGF22	19	643436	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09		643436	58485547	112	34254										
DOCK6	57572	genome.wustl.edu	37	chr19	11323983	11323983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ggcacacagctccgtgtcctCctcgaacagcagctccggga	11	16	0	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:11323983C>T	ENST00000294618.7	-	35	4371	c.4360G>A	c.(4360-4362)Gag>Aag	p.E1454K	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.E793K	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1454					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCGTGTCCTCCTCGAACAGC	0.647																																																	0													29	37	34					19																	11323983		2181	4282	6463	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4360G>A	19.37:g.11323983C>T	ENSP00000294618:p.Glu1454Lys		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.E1454K	ENST00000294618.7	37	c.4360	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.215385	0.95104	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.62941	-0.01;-0.01	5.35	4.3	0.51218	.	0.052004	0.85682	D	0.000000	T	0.78886	0.4354	M	0.82823	2.61	0.58432	D	0.999998	D;P	0.69078	0.997;0.882	D;P	0.68765	0.96;0.521	T	0.82125	-0.0612	10	0.72032	D	0.01	-26.3223	13.3276	0.60469	0.0:0.9211:0.0:0.0789	.	793;1454	C9IZV6;Q96HP0	.;DOCK6_HUMAN	K	1454;793	ENSP00000294618:E1454K;ENSP00000321556:E793K	ENSP00000294618:E1454K	E	-	1	0	DOCK6	11184983	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.968000	0.70413	1.244000	0.43870	0.650000	0.86243	GAG	DOCK6	-	NULL		0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	C	NM_020812		11323983	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	T	T	11323983	C	T	11323983	3	4	184	1	0	0	0	0	1	0	0	0	4701	864	30	1	1839	1	DOCK6	19	11323983	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	10680547	11323983	47805000	113	34255										
NOTCH3	4854	genome.wustl.edu	37	chr19	15299118	15299118	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gttgacacaggggctactctGacactcgtcaatgtccacct	9	13	2	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:15299118G>A	ENST00000263388.2	-	9	1495	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	474	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGCTACTCTGACACTCGTCA	0.607																																																	0													54	45	48					19																	15299118		2203	4300	6503	SO:0001587	stop_gained	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1420C>T	19.37:g.15299118G>A	ENSP00000263388:p.Gln474*		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.Q474*	ENST00000263388.2	37	c.1420	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.449279	0.98292	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.05	3.94	0.45596	.	0.370656	0.16184	N	0.225709	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	11.9637	0.53023	0.0:0.3588:0.6411:0.0	.	.	.	.	X	474;476	.	ENSP00000263388:Q474X	Q	-	1	0	NOTCH3	15160118	0.941000	0.31946	1.000000	0.80357	0.932000	0.56968	1.770000	0.38532	2.350000	0.79820	0.561000	0.74099	CAG	NOTCH3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.607	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	G	NM_000435		15299118	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	15299118	G	A	15299118	4	1	184	1	0	0	0	0	0	1	0	0	10574	1299	45	1	5645	1	NOTCH3	19	15299118	Nonsense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	3975135	15299118	43829865	114	34256										
ZNF599	148103	genome.wustl.edu	37	chr19	35250451	35250451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gcactcaaagggcttctctcCggtatgggtcctcttatgtc	10	12	3	0	rs200075847		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:35250451C>T	ENST00000329285.8	-	4	1628	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGCTTCTCTCCGGTATGGGTC	0.468																																																	0								C	ARG/GLY	0,4406		0,0,2203	55	54	54		1255	2.5	1	19		54	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF599	NM_001007248.2	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	419/589	35250451	2,13004	2203	4300	6503	SO:0001583	missense	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1255G>A	19.37:g.35250451C>T	ENSP00000333802:p.Gly419Arg		Q569K0|Q5PRG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G419R	ENST00000329285.8	37	c.1255	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622037	0.66787	0.0	2.33E-4	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.26223	1.75	2.53	2.53	0.30540	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42040	0.1185	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.31308	-0.9948	9	0.62326	D	0.03	.	8.6882	0.34251	0.0:1.0:0.0:0.0	.	419	Q96NL3	ZN599_HUMAN	R	418;419;193	ENSP00000333802:G419R	ENSP00000333802:G419R	G	-	1	0	ZNF599	39942291	0.046000	0.20272	0.997000	0.53966	0.951000	0.60555	1.575000	0.36493	1.735000	0.51646	0.491000	0.48974	GGA	ZNF599	-	pfscan_Znf_C2H2		0.468	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	C	XM_086046		35250451	-1	no_errors	ENST00000329285	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35250451	C	T	35250451	3	4	184	1	0	0	0	0	1	0	0	0	18059	661	23	2	515	2	ZNF599	19	35250451	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	19951333	35250451	23878532	115	34257										
ZNF546	339327	genome.wustl.edu	37	chr19	40520585	40520585	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	atactggtgagaaaccctatGaatgtaaggaatgtgggaag	13	4	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:40520585G>C	ENST00000347077.4	+	7	1624	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.E444Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAACCCTATGAATGTAAGGA	0.413																																																	0													73	75	74					19																	40520585		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1408G>C	19.37:g.40520585G>C	ENSP00000339823:p.Glu470Gln		A8K913	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E470Q	ENST00000347077.4	37	c.1408	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	g	14.23	2.472800	0.43942	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.20200	2.09	2.9	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10809	0.0264	N	0.04705	-0.18	0.21020	N	0.99981	B	0.18166	0.026	B	0.18871	0.023	T	0.28073	-1.0055	9	0.56958	D	0.05	.	9.5796	0.39479	0.0:0.2294:0.7706:0.0	.	470	Q86UE3	ZN546_HUMAN	Q	470;107	ENSP00000339823:E470Q	ENSP00000339823:E470Q	E	+	1	0	ZNF546	45212425	0.000000	0.05858	0.992000	0.48379	0.994000	0.84299	-0.777000	0.04669	0.732000	0.32470	0.655000	0.94253	GAA	ZNF546	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	G	NM_178544		40520585	1	no_errors	ENST00000347077	ensembl	human	known	70_37	missense	SNP	0.945	C	C	40520585	G	C	40520585	3	2	184	1	0	0	0	0	1	0	0	0	18008	1291	45	1	1426	1	ZNF546	19	40520585	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	5270134	40520585	18608398	116	34258										
SPTBN4	57731	genome.wustl.edu	37	chr19	41019436	41019436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tgcgtgtgccggattcactcGacgacgtcgaggtggtgcag	16	10	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:41019436G>A	ENST00000352632.3	+	14	2826	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D914N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D914N|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D914N|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D914N			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	914					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGATTCACTCGACGACGTCGA	0.617																																																	0													27	17	20					19																	41019436		2201	4298	6499	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2740G>A	19.37:g.41019436G>A	ENSP00000263373:p.Asp914Asn		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.D914N	ENST00000352632.3	37	c.2740	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718962	0.68844	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.51574	0.7;0.7;0.7	3.34	3.34	0.38264	.	0.493761	0.17970	U	0.155896	T	0.45677	0.1354	L	0.29908	0.895	0.80722	D	1	D;P	0.58620	0.983;0.942	P;B	0.50570	0.644;0.384	T	0.53158	-0.8478	10	0.87932	D	0	.	13.9331	0.64007	0.0:0.0:1.0:0.0	.	914;914	Q9H254;Q71S06	SPTN4_HUMAN;.	N	914	ENSP00000263373:D914N;ENSP00000340345:D914N;ENSP00000340741:D914N	ENSP00000340345:D914N	D	+	1	0	SPTBN4	45711276	1.000000	0.71417	0.926000	0.36857	0.378000	0.30076	9.363000	0.97131	1.887000	0.54652	0.313000	0.20887	GAC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.617	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	G			41019436	1	no_errors	ENST00000352632	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41019436	G	A	41019436	3	1	184	1	0	0	0	0	1	0	0	0	15151	1058	37	1	2790	1	SPTBN4	19	41019436	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	498851	41019436	18109547	117	34259										
CEACAM16	388551	genome.wustl.edu	37	chr19	45213775	45213775	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	atatgccccacagccctgggGtaacagcgtgaccctggaga	12	13	0	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:45213775G>T	ENST00000405314.2	+	6	1372	c.1275G>T	c.(1273-1275)ggG>ggT	p.G425G	CEACAM16_ENST00000587331.1_Silent_p.G425G|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	425					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCTGGGGTAACAGCGTG	0.652																																																	0													97	106	103					19																	45213775		2010	4161	6171	SO:0001819	synonymous_variant	388551				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1275G>T	19.37:g.45213775G>T			A7LI12	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G425	ENST00000405314.2	37	c.1275	CCDS54278.1	19																																																																																			CEACAM16	-	NULL		0.652	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CEACAM16	HGNC	protein_coding		G	XM_371177		45213775	1	no_errors	ENST00000405314	ensembl	human	known	70_37	silent	SNP	0.919	T	T	45213775	G	T	45213775	2	4	184	1	0	0	0	0	0	0	0	1	3193	1248	44	4		4	CEACAM16	19	45213775	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	4194339	45213775	13915208	118	34260										
GPR77	27202	genome.wustl.edu	37	chr19	47844948	47844948	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tcctgtattttgggagggctCaactccgccggtcactgcca	11	13	2	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr19:47844948C>G	ENST00000595464.1	+	2	1110	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	C5AR2_ENST00000600626.1_Missense_Mutation_p.Q298E|C5AR2_ENST00000257267.2_Missense_Mutation_p.Q298E	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	298					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										TGGGAGGGCTCAACTCCGCCG	0.627																																																	0													52	48	50					19																	47844948		2203	4300	6503	SO:0001583	missense	27202			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.892C>G	19.37:g.47844948C>G	ENSP00000472620:p.Gln298Glu		B2RA09	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt	p.Q298E	ENST00000595464.1	37	c.892	CCDS12699.1	19	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752420	0.31046	.	.	ENSG00000134830	ENST00000257267	T	0.36878	1.23	3.86	3.86	0.44501	.	0.350167	0.28641	U	0.014622	T	0.24314	0.0589	L	0.27053	0.805	0.25178	N	0.990229	B	0.31026	0.304	B	0.24974	0.057	T	0.23797	-1.0178	10	0.59425	D	0.04	.	11.4837	0.50342	0.0:1.0:0.0:0.0	.	298	Q9P296	C5ARL_HUMAN	E	298	ENSP00000257267:Q298E	ENSP00000257267:Q298E	Q	+	1	0	GPR77	52536788	0.001000	0.12720	0.030000	0.17652	0.502000	0.33828	1.472000	0.35376	2.146000	0.66826	0.313000	0.20887	CAA	GPR77	-	prints_GPCR_Rhodpsn		0.627	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR77	HGNC	protein_coding	OTTHUMT00000466926.1	C	NM_018485		47844948	1	no_errors	ENST00000257267	ensembl	human	known	70_37	missense	SNP	0.581	G	G	47844948	C	G	47844948	3	3	184	1	0	0	0	0	1	0	0	0	6728	827	29	1	894	1	GPR77	19	47844948	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	2631173	47844948	11284035	119	34261										
ATP9A	10079	genome.wustl.edu	37	chr20	50225060	50225060	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tgaaaagctaacagaaccttGagaagatccttgtagagctc	9	8	0	5			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr20:50225060G>C	ENST00000338821.5	-	25	3006	c.2742C>G	c.(2740-2742)ctC>ctG	p.L914L	ATP9A_ENST00000402822.1_Silent_p.L793L|ATP9A_ENST00000311637.5_Silent_p.L778L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	914					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACAGAACCTTGAGAAGATCCT	0.438																																																	0													164	149	154					20																	50225060		2203	4300	6503	SO:0001819	synonymous_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2742C>G	20.37:g.50225060G>C			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L914	ENST00000338821.5	37	c.2742	CCDS33489.1	20																																																																																			ATP9A	-	tigrfam_ATPase_P-typ_Plipid-transl		0.438	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	G	NM_006045		50225060	-1	no_errors	ENST00000338821	ensembl	human	known	70_37	silent	SNP	0.993	C	C	50225060	G	C	50225060	2	2	184	1	0	0	0	0	0	0	0	1	1199	1277	45	1		1	ATP9A	20	50225060	Silent	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		50225060	12800460	120	34262										
RGS19	10287	genome.wustl.edu	37	chr20	62705529	62705529	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	caggatggatacgtagtcctCgtagatgagcctcgccttct	11	11	1	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr20:62705529C>A	ENST00000395042.1	-	5	696	c.430G>T	c.(430-432)Gag>Tag	p.E144*	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Nonsense_Mutation_p.E144*	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	144	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACGTAGTCCTCGTAGATGAGC	0.627																																																	0													113	94	100					20																	62705529		2203	4300	6503	SO:0001587	stop_gained	10287			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"Regulators of G-protein signaling"	13735	protein-coding gene	gene with protein product		605071	"regulator of G-protein signalling 19"			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.430G>T	20.37:g.62705529C>A	ENSP00000378483:p.Glu144*		A8K216|E1P5G9|Q53XN0|Q8TD60	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E144*	ENST00000395042.1	37	c.430	CCDS13555.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.151135	0.98099	.	.	ENSG00000171700	ENST00000395042;ENST00000332298	.	.	.	5.2	5.2	0.72013	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	18.9118	0.92489	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000333194:E144X	E	-	1	0	RGS19	62175973	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.490000	0.81461	2.704000	0.92352	0.563000	0.77884	GAG	RGS19	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.627	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS19	HGNC	protein_coding	OTTHUMT00000080273.1	C	NM_005873		62705529	-1	no_errors	ENST00000332298	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	62705529	C	A	62705529	4	1	184	1	0	0	0	0	0	1	0	0	13331	893	31	3	231	3	RGS19	20	62705529	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	12480469	62705529	319991	121	34263										
BRWD1	54014	genome.wustl.edu	37	chr21	40619736	40619736	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	atgtcctttgtctagactgtGataccaaaaccactgaatcc	6	11	1	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr21:40619736G>A	ENST00000333229.2	-	21	2699	c.2372C>T	c.(2371-2373)tCa>tTa	p.S791L	BRWD1_ENST00000342449.3_Missense_Mutation_p.S791L|BRWD1_ENST00000380800.3_Missense_Mutation_p.S791L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	791					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTAGACTGTGATACCAAAAC	0.388																																					Melanoma(170;988 1986 4794 16843 39731)												0													101	90	94					21																	40619736		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2372C>T	21.37:g.40619736G>A	ENSP00000330753:p.Ser791Leu		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S791L	ENST00000333229.2	37	c.2372	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527930	0.64860	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56776	0.44;0.46;0.54	5.23	5.23	0.72850	.	0.437846	0.21286	N	0.077080	T	0.47192	0.1432	L	0.61387	1.9	0.45995	D	0.998803	B;B	0.25667	0.029;0.131	B;B	0.19946	0.027;0.023	T	0.47935	-0.9078	10	0.46703	T	0.11	-6.4779	8.3998	0.32579	0.1353:0.0:0.8647:0.0	.	791;791	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	L	791	ENSP00000330753:S791L;ENSP00000344333:S791L;ENSP00000370178:S791L	ENSP00000330753:S791L	S	-	2	0	BRWD1	39541606	0.976000	0.34144	0.942000	0.38095	0.798000	0.45092	3.798000	0.55522	2.601000	0.87937	0.591000	0.81541	TCA	BRWD1	-	NULL		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	G	NM_033656		40619736	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.387	A	A	40619736	G	A	40619736	3	1	184	1	0	0	0	0	1	0	0	0	1528	1294	45	1	4917	1	BRWD1	21	40619736	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09		40619736	7510159	122	34264										
RRP1	8568	genome.wustl.edu	37	chr21	45215091	45215091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tcatgcggatggtcctgaacGagtccttgaaggttctgaag	13	8	2	3	rs367993051		TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chr21:45215091G>A	ENST00000497547.1	+	5	499	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GGTCCTGAACGAGTCCTTGAA	0.592																																																	0								G	LYS/GLU	1,4245		0,1,2122	135	148	144		382	3.6	0.9	21		144	0,8470		0,0,4235	no	missense	RRP1	NM_003683.5	56	0,1,6357	AA,AG,GG		0.0,0.0236,0.0079	probably-damaging	128/462	45215091	1,12715	2123	4235	6358	SO:0001583	missense	8568			U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"DNA segment on chromosome 21 (unique) 2056 expressed sequence", "Nnp1 homolog, nucleolar protein (Drosophila)"	610653	"ribosomal RNA processing 1 homolog (S. cerevisiae)"			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.382G>A	21.37:g.45215091G>A	ENSP00000417464:p.Glu128Lys		A6NIB2	Missense_Mutation	SNP	pfam_Nop52	p.E128K	ENST00000497547.1	37	c.382	CCDS42951.1	21	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422291	0.83559	2.36E-4	0.0	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.46063	0.88	4.55	3.59	0.41128	.	0.162081	0.56097	D	0.000034	T	0.51669	0.1688	L	0.58583	1.82	0.44149	D	0.996949	D;D	0.71674	0.996;0.998	P;P	0.58130	0.833;0.833	T	0.55444	-0.8140	10	0.87932	D	0	.	10.1489	0.42780	0.0:0.3296:0.6704:0.0	.	128;128	B4DZM3;P56182	.;RRP1_HUMAN	K	128	ENSP00000417464:E128K	ENSP00000383237:E128K	E	+	1	0	RRP1	44039519	0.984000	0.35163	0.853000	0.33588	0.712000	0.41017	2.340000	0.43974	2.239000	0.73571	0.655000	0.94253	GAG	RRP1	-	pfam_Nop52		0.592	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1	HGNC	protein_coding	OTTHUMT00000195680.1	G	NM_003683		45215091	1	no_errors	ENST00000497547	ensembl	human	known	70_37	missense	SNP	0.993	A	A	45215091	G	A	45215091	3	1	184	1	0	0	0	0	1	0	0	0	13715	1059	37	1	400	1	RRP1	21	45215091	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	4595355	45215091	2914804	123	34265										
CRLF2	64109	genome.wustl.edu	37	chrX	1315003	1315003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tttgggaggcgttggtgtctCtgcacaggcatctgaaacaa	13	8	2	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:1315003C>G	ENST00000381567.3	-	6	657	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	220					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTTGGTGTCTCTGCACAGGCA	0.453			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"																																			Dom	yes		"X,Y"	Xp22.3; Yp11.3	64109	cytokine receptor-like factor 2		L	0													153	156	155					X																	1315003		1857	4102	5959	SO:0001583	missense	64109			AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"Pseudoautosomal regions / PAR1"	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.658G>C	X.37:g.1315003C>G	ENSP00000370979:p.Glu220Gln		Q9H5R3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E220Q	ENST00000381567.3	37	c.658		X	.	.	.	.	.	.	.	.	.	.	c	0.604	-0.827973	0.02734	.	.	ENSG00000205755	ENST00000381567;ENST00000400841	D;D	0.98493	-4.96;-4.96	1.46	0.421	0.16451	.	10.698500	0.00659	U	0.000593	D	0.95027	0.8390	.	.	.	0.09310	N	1	B	0.24823	0.112	B	0.22880	0.042	D	0.89576	0.3817	9	0.26408	T	0.33	0.1933	5.8702	0.18799	0.0:0.6704:0.3296:0.0	.	220	Q9HC73	CRLF2_HUMAN	Q	220	ENSP00000370979:E220Q;ENSP00000383641:E220Q	ENSP00000370979:E220Q	E	-	1	0	CRLF2	1275003	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.084000	0.11268	-0.126000	0.11682	-0.916000	0.02749	GAG	CRLF2	-	NULL		0.453	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	CRLF2	HGNC	protein_coding		C	NM_022148		1315003	-1	no_errors	ENST00000381567	ensembl	human	known	70_37	missense	SNP	0.003	G	G	1315003	C	G	1315003	3	3	184	1	0	0	0	0	1	0	0	0	3892	922	32	1	119	1	CRLF2	23	1315003	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09		1315003	153955557	124	34266										
MAGEB3	4114	genome.wustl.edu	37	chrX	30254216	30254216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aaaagtctgctggtaggtcaCgtagtgctctcaagaagcct	11	9	3	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:30254216C>T	ENST00000361644.2	+	5	912	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	59										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TGGTAGGTCACGTAGTGCTCT	0.433																																																	0													35	30	32					X																	30254216		2202	4300	6502	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.175C>T	X.37:g.30254216C>T	ENSP00000355198:p.Arg59Cys		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R59C	ENST00000361644.2	37	c.175	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	c	3.970	-0.008484	0.07727	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04454	3.62;3.62	3.74	-5.62	0.02481	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43718	-0.9374	9	0.33940	T	0.23	.	1.8384	0.03144	0.109:0.3031:0.2463:0.3417	.	59	O15480	MAGB3_HUMAN	C	59	ENSP00000368271:R59C;ENSP00000355198:R59C	ENSP00000355198:R59C	R	+	1	0	MAGEB3	30164137	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.930000	0.01557	-1.930000	0.01056	-2.573000	0.00170	CGT	MAGEB3	-	pfam_Melanoma_ass_antigen_N		0.433	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	C	NM_002365		30254216	1	no_errors	ENST00000361644	ensembl	human	known	70_37	missense	SNP	0.000	T	T	30254216	C	T	30254216	3	4	184	1	0	0	0	0	1	0	0	0	9200	536	19	2	177	2	MAGEB3	23	30254216	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	28939213	30254216	125016344	125	34267										
DDX3X	1654	genome.wustl.edu	37	chrX	41205855	41205855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tgtacatcgtattggtcgtaCgggacgtgtaggaaaccttg	13	7	0	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:41205855C>T	ENST00000399959.2	+	14	2450	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.T516M|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	532	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ATTGGTCGTACGGGACGTGTA	0.378										HNSCC(61;0.18)																																							0													169	160	163					X																	41205855		2196	4299	6495	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1595C>T	X.37:g.41205855C>T	ENSP00000382840:p.Thr532Met		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T532M	ENST00000399959.2	37	c.1595	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	C	25.1	4.597947	0.87055	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.79247	-1.25;-1.25	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94750	0.7926	10	0.87932	D	0	-1.6425	17.9413	0.89027	0.0:1.0:0.0:0.0	.	516;544;532	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	M	532;516	ENSP00000382840:T532M;ENSP00000392494:T516M	ENSP00000382840:T532M	T	+	2	0	DDX3X	41090799	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.773000	0.85462	2.170000	0.68504	0.600000	0.82982	ACG	DDX3X	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.378	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	C	NM_024005		41205855	1	no_errors	ENST00000399959	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41205855	C	T	41205855	3	4	184	1	0	0	0	0	1	0	0	0	4363	536	19	2	1649	2	DDX3X	23	41205855	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	10951639	41205855	114064705	126	34268										
ZXDB	158586	genome.wustl.edu	37	chrX	57620522	57620522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	gtctggatacctctctctttTttggaacggcggccactggt	11	11	3	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:57620522T>C	ENST00000374888.1	+	1	2254	c.2041T>C	c.(2041-2043)Ttt>Ctt	p.F681L		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	681	Required for transcriptional activation. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTCTCTCTTTTTTGGAACGGC	0.517																																																	0													5	5	5					X																	57620522		1844	3619	5463	SO:0001583	missense	158586			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2041T>C	X.37:g.57620522T>C	ENSP00000364023:p.Phe681Leu		A8K151|Q9UBB3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F681L	ENST00000374888.1	37	c.2041	CCDS35313.1	X	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.742678	0.00675	.	.	ENSG00000198455	ENST00000374888	T	0.08807	3.05	3.77	2.63	0.31362	.	0.276731	0.30464	N	0.009562	T	0.03136	0.0092	N	0.12569	0.235	0.27939	N	0.937579	B	0.21520	0.057	B	0.14023	0.01	T	0.41752	-0.9491	10	0.07325	T	0.83	.	3.9886	0.09527	0.0:0.269:0.0:0.731	.	681	P98169	ZXDB_HUMAN	L	681	ENSP00000364023:F681L	ENSP00000364023:F681L	F	+	1	0	ZXDB	57637247	1.000000	0.71417	0.974000	0.42286	0.366000	0.29705	1.598000	0.36740	1.520000	0.48965	0.393000	0.25936	TTT	ZXDB	-	NULL		0.517	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	T	NM_007157		57620522	1	no_errors	ENST00000374888	ensembl	human	known	70_37	missense	SNP	0.954	C	C	57620522	T	C	57620522	3	2	184	1	0	0	0	0	1	0	0	0	18281	1841	64	5	2043	5	ZXDB	23	57620522	Missense_Mutation	SNP	T	TCGA-Q1-A6DW-01A-11D-A32I-09	16414667	57620522	97650038	127	34269										
ZXDA	7789	genome.wustl.edu	37	chrX	57936104	57936104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	cagtccgcgggggcccagggCggcggccaggccctccgcct	17	18	0	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:57936104C>T	ENST00000358697.4	-	1	963	c.751G>A	c.(751-753)Gcc>Acc	p.A251T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	251					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGGCCCAGGGCGGCGGCCAGG	0.736																																																	0													5	6	6					X																	57936104		2084	4039	6123	SO:0001583	missense	7789			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.751G>A	X.37:g.57936104C>T	ENSP00000351530:p.Ala251Thr		Q9UJP7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A251T	ENST00000358697.4	37	c.751	CCDS14376.1	X	.	.	.	.	.	.	.	.	.	.	.	9.174	1.021765	0.19433	.	.	ENSG00000198205	ENST00000358697	T	0.10668	2.85	3.42	-0.811	0.10857	.	0.879511	0.09585	N	0.782316	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.44205	-0.9343	9	.	.	.	.	2.1197	0.03723	0.485:0.2462:0.1582:0.1106	.	251	P98168	ZXDA_HUMAN	T	251	ENSP00000351530:A251T	.	A	-	1	0	ZXDA	57952829	0.153000	0.22777	0.000000	0.03702	0.561000	0.35649	2.171000	0.42453	-0.326000	0.08564	0.415000	0.27848	GCC	ZXDA	-	NULL		0.736	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDA	HGNC	protein_coding	OTTHUMT00000056925.1	C	NM_007156		57936104	-1	no_errors	ENST00000358697	ensembl	human	known	70_37	missense	SNP	0.000	T	T	57936104	C	T	57936104	3	4	184	1	0	0	0	0	1	0	0	0	18280	768	27	2	1652	2	ZXDA	23	57936104	Missense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	315582	57936104	97334456	128	34270										
NXF5	55998	genome.wustl.edu	37	chrX	101095505	101095505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctggtccgagaaggtgctgcAcaacgggttcccttctagcc	12	13	1	1			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:101095505A>G	ENST00000361708.2	-	10	1023	c.664T>C	c.(664-666)Tgc>Cgc	p.C222R	NXF5_ENST00000537026.1_Missense_Mutation_p.C222R|NXF5_ENST00000473265.2_Missense_Mutation_p.C222R			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	222					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						AAGGTGCTGCACAACGGGTTC	0.572																																																	0													90	77	82					X																	101095505		2132	4178	6310	SO:0001583	missense	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.664T>C	X.37:g.101095505A>G	ENSP00000355286:p.Cys222Arg		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	pfam_Tap_RNA-bd	p.C222R	ENST00000361708.2	37	c.664		X	.	.	.	.	.	.	.	.	.	.	.	15.01	2.706795	0.48412	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.56275	0.47;0.47;0.47	1.86	1.86	0.25419	.	0.000000	0.85682	U	0.000000	T	0.66761	0.2822	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.66396	-0.5934	10	0.49607	T	0.09	.	7.3034	0.26434	1.0:0.0:0.0:0.0	.	222	A2RRM0	.	R	222	ENSP00000442401:C222R;ENSP00000426978:C222R;ENSP00000355286:C222R	ENSP00000263032:C222R	C	-	1	0	NXF5	100982161	1.000000	0.71417	0.036000	0.18154	0.101000	0.19017	6.008000	0.70739	1.038000	0.40049	0.220000	0.17776	TGC	NXF5	-	NULL		0.572	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		A			101095505	-1	no_errors	ENST00000263032	ensembl	human	known	70_37	missense	SNP	0.998	G	G	101095505	A	G	101095505	3	3	184	1	0	0	0	0	1	0	0	0	10810	159	6	5	461	5	NXF5	23	101095505	Missense_Mutation	SNP	A	TCGA-Q1-A6DW-01A-11D-A32I-09	43159401	101095505	54175055	129	34271										
NRK	203447	genome.wustl.edu	37	chrX	105193672	105193672	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ccctctctgtggaagcaaatGaacaactcttcaagaagatc	7	11	3	3			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:105193672G>A	ENST00000243300.9	+	27	4762	c.4459G>A	c.(4459-4461)Gaa>Aaa	p.E1487K	NRK_ENST00000540278.1_Missense_Mutation_p.E68K|NRK_ENST00000428173.2_Missense_Mutation_p.E1488K	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1487	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAAGCAAATGAACAACTCTT	0.373										HNSCC(51;0.14)																																							0													84	75	78					X																	105193672		1886	4096	5982	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4459G>A	X.37:g.105193672G>A	ENSP00000434830:p.Glu1487Lys		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E1488K	ENST00000243300.9	37	c.4462		X	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490770	0.84962	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000540278	T;T;T	0.04809	3.55;3.55;3.55	5.96	5.96	0.96718	Citron-like (2);	0.000000	0.46145	D	0.000307	T	0.14056	0.0340	L	0.36672	1.1	0.36814	D	0.886062	D;D	0.69078	0.997;0.995	P;D	0.67103	0.908;0.949	T	0.01757	-1.1280	10	0.66056	D	0.02	.	16.3019	0.82825	0.0:0.0:1.0:0.0	.	68;1487	B7Z1I7;Q7Z2Y5	.;NRK_HUMAN	K	1487;1488;68	ENSP00000434830:E1487K;ENSP00000438378:E1488K;ENSP00000438148:E68K	ENSP00000434830:E1487K	E	+	1	0	NRK	105080328	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.461000	0.66699	2.509000	0.84616	0.600000	0.82982	GAA	NRK	-	pfam_Citron,smart_Citron		0.373	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	G	NM_198465		105193672	1	no_errors	ENST00000428173	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105193672	G	A	105193672	3	1	184	1	0	0	0	0	1	0	0	0	10679	1291	45	1	4565	1	NRK	23	105193672	Missense_Mutation	SNP	G	TCGA-Q1-A6DW-01A-11D-A32I-09	4098167	105193672	50076888	130	34272										
CT47B1	643311	genome.wustl.edu	37	chrX	120008797	120008797	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	tcggttcctctgcggccggtTcctctgtggcctcctctgtg	12	15	3	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:120008797T>A	ENST00000371311.3	-	1	982	c.728A>T	c.(727-729)gAa>gTa	p.E243V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	243								p.K235_E243delKLTEEATEE(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TGCGGCCGGTtcctctgtggc	0.692																																																	1	Deletion - In frame(1)	ovary(1)											53	47	49					X																	120008797		692	1589	2281	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.728A>T	X.37:g.120008797T>A	ENSP00000360360:p.Glu243Val		A6NM97	Missense_Mutation	SNP	NULL	p.E243V	ENST00000371311.3	37	c.728	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	T	9.770	1.172377	0.21704	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.72	0.396	0.16309	.	.	.	.	.	T	0.20820	0.0501	L	0.29908	0.895	0.09310	N	1	P	0.48694	0.914	B	0.43274	0.414	T	0.12811	-1.0533	8	0.72032	D	0.01	.	4.2359	0.10625	0.0:0.0:0.3608:0.6392	.	243	P0C2W7	CT47B_HUMAN	V	243	.	ENSP00000360360:E243V	E	-	2	0	CT47B1	119892825	0.002000	0.14202	0.000000	0.03702	0.096000	0.18686	0.711000	0.25764	0.048000	0.15891	0.125000	0.15800	GAA	CT47B1	-	NULL		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	T	NM_001145718		120008797	-1	no_errors	ENST00000371311	ensembl	human	known	70_37	missense	SNP	0.000	A	A	120008797	T	A	120008797	3	1	184	1	0	0	0	0	1	0	0	0	3994	1783	62	5	179	5	CT47B1	23	120008797	Missense_Mutation	SNP	T	TCGA-Q1-A6DW-01A-11D-A32I-09	14815125	120008797	35261763	131	34273										
MAGEC3	139081	genome.wustl.edu	37	chrX	140984709	140984709	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	ctgggatgccacctcttcccCagagtcctcctgagattcct	8	16	1	2			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:140984709C>T	ENST00000298296.1	+	7	1165	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.Q91*|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Nonsense_Mutation_p.Q91*|MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.Q11*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.Q91*	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	389	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCTTCCCCAGAGTCCTCC	0.587																																																	0													47	39	42					X																	140984709		2175	4257	6432	SO:0001587	stop_gained	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1165C>T	X.37:g.140984709C>T	ENSP00000298296:p.Gln389*		Q3SYA7|Q5JZ43|Q9BZ80	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q389*	ENST00000298296.1	37	c.1165	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	12.20	1.866109	0.32977	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	.	.	.	.	.	.	.	X	389;91;11;91;91	.	ENSP00000298296:Q389X	Q	+	1	0	MAGEC3	140812375	0.005000	0.15991	0.036000	0.18154	0.158000	0.22134	0.582000	0.23834	0.280000	0.22209	0.284000	0.19432	CAG	MAGEC3	-	NULL		0.587	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140984709	1	no_errors	ENST00000298296	ensembl	human	known	70_37	nonsense	SNP	0.035	T	T	140984709	C	T	140984709	4	4	184	1	0	0	0	0	0	1	0	0	9205	595	21	4	1420	4	MAGEC3	23	140984709	Nonsense_Mutation	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	20975912	140984709	14285851	132	34274										
GPR50	9248	genome.wustl.edu	37	chrX	150349573	150349573	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.263157894736842	35	7.48591833171564e-10	3.1714033928178	5.49847211611918	2.40729127471884	0.367472207919732	0.609312891764342	24	aaacccaccactggccacatCaagccagctaccagccatgc	6	18	1	0			TCGA-Q1-A6DW-01A-11D-A32I-09	TCGA-Q1-A6DW-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	42448439-f7e1-447f-af5a-555da8dfb379	0f908e54-7301-47ea-880f-95dbcded8f62	g.chrX:150349573C>T	ENST00000218316.3	+	2	1587	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	506	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCCACATCAAGCCAGCTA	0.607																																																	0													86	99	95					X																	150349573		2116	4204	6320	SO:0001819	synonymous_variant	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1518C>T	X.37:g.150349573C>T			Q0VGG3|Q3ZAR0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.I506	ENST00000218316.3	37	c.1518	CCDS44012.1	X																																																																																			GPR50	-	NULL		0.607	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	C	NM_004224		150349573	1	no_errors	ENST00000218316	ensembl	human	known	70_37	silent	SNP	0.000	T	T	150349573	C	T	150349573	2	4	184	1	0	0	0	0	0	0	0	1	6716	816	29	1		1	GPR50	23	150349573	Silent	SNP	C	TCGA-Q1-A6DW-01A-11D-A32I-09	9364864	150349573	4920987	133	34275										
KLHL17	339451	genome.wustl.edu	37	chr1	897278	897278	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgcaagtttctactgagtCagctcgacccctccaactgc	8	15	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:897278C>T	ENST00000338591.3	+	4	669	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	NOC2L_ENST00000327044.6_5'Flank|NOC2L_ENST00000487214.1_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	188					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTACTGAGTCAGCTCGACCC	0.637																																																	0													69	70	70					1																	897278		2203	4300	6503	SO:0001587	stop_gained	339451			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.562C>T	1.37:g.897278C>T	ENSP00000343930:p.Gln188*		Q5SV94	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q188*	ENST00000338591.3	37	c.562	CCDS30550.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.865442	0.97897	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0301	0.92953	0.0:1.0:0.0:0.0	.	.	.	.	X	188;64	.	ENSP00000343930:Q188X	Q	+	1	0	KLHL17	887141	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.750000	0.85110	2.577000	0.86979	0.561000	0.74099	CAG	KLHL17	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.637	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL17	HGNC	protein_coding	OTTHUMT00000097875.3	C	NM_198317		897278	1	no_errors	ENST00000338591	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	897278	C	T	897278	4	4	185	1	0	0	0	0	0	1	0	0	8392	827	29	1	576	1	KLHL17	1	897278	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		897278	248353343	1	34276										
CALML6	163688	genome.wustl.edu	37	chr1	1847898	1847898	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agacagagcgcctgtcggctGagcagatcaaggagtacaag	14	9	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:1847898G>A	ENST00000307786.3	+	3	551	c.97G>A	c.(97-99)Gag>Aag	p.E33K	CALML6_ENST00000462293.1_Intron	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	33	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTGTCGGCTGAGCAGATCAA	0.637																																																	0													60	57	58					1																	1847898		2169	4274	6443	SO:0001583	missense	163688			AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"EF-hand domain containing"	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.97G>A	1.37:g.1847898G>A	ENSP00000304643:p.Glu33Lys		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E33K	ENST00000307786.3	37	c.97	CCDS30566.1	1	.	.	.	.	.	.	.	.	.	.	.	9.429	1.084928	0.20390	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.42513	0.97;0.97	2.32	2.32	0.28847	EF-hand-like domain (1);	.	.	.	.	T	0.36082	0.0954	L	0.52266	1.64	0.18873	N	0.999989	B	0.15141	0.012	B	0.11329	0.006	T	0.33803	-0.9854	9	0.72032	D	0.01	.	8.2248	0.31562	0.0:0.0:1.0:0.0	.	33	Q8TD86	CALL6_HUMAN	K	33;16	ENSP00000304643:E33K;ENSP00000367867:E16K	ENSP00000304643:E33K	E	+	1	0	CALML6	1837758	0.973000	0.33851	0.118000	0.21660	0.362000	0.29581	2.422000	0.44696	1.612000	0.50221	0.491000	0.48974	GAG	CALML6	-	pfscan_EF_HAND_2		0.637	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	CALML6	HGNC	protein_coding	OTTHUMT00000276929.1	G	NM_138705		1847898	1	no_errors	ENST00000307786	ensembl	human	known	70_37	missense	SNP	0.448	A	A	1847898	G	A	1847898	3	1	185	1	0	0	0	0	1	0	0	0	2595	1291	45	1	107	1	CALML6	1	1847898	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	950620	1847898	247402723	2	34277										
KCNAB2	8514	genome.wustl.edu	37	chr1	6154520	6154520	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggccatgtactggggcacgtCacgctggagctccatggaga	15	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:6154520C>T	ENST00000164247.1	+	11	1127	c.563C>T	c.(562-564)tCa>tTa	p.S188L	KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Missense_Mutation_p.S174L|KCNAB2_ENST00000341524.1_Missense_Mutation_p.S188L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.S188L|KCNAB2_ENST00000378083.3_Missense_Mutation_p.S236L|KCNAB2_ENST00000378092.1_Missense_Mutation_p.S174L|KCNAB2_ENST00000458166.2_Missense_Mutation_p.S121L|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.S188L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	188					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCACGTCACGCTGGAGC	0.637																																																	0													95	77	83					1																	6154520		2197	4298	6495	SO:0001583	missense	8514			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.563C>T	1.37:g.6154520C>T	ENSP00000164247:p.Ser188Leu		A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.S236L	ENST00000164247.1	37	c.707	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.568515	0.96540	.	.	ENSG00000069424	ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000341524;ENST00000352527;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.49	5.49	0.81192	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	H	0.99619	4.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94839	0.8003	10	0.87932	D	0	-5.7912	18.3811	0.90451	0.0:1.0:0.0:0.0	.	236;174;188;188	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	L	188;174;174;188;188;174;188;236;121	ENSP00000367337:S188L;ENSP00000367332:S174L;ENSP00000400285:S174L;ENSP00000374283:S188L;ENSP00000340824:S188L;ENSP00000318772:S174L;ENSP00000164247:S188L;ENSP00000367323:S236L;ENSP00000396167:S121L	ENSP00000164247:S188L	S	+	2	0	KCNAB2	6077107	1.000000	0.71417	0.487000	0.27428	0.957000	0.61999	7.724000	0.84798	2.583000	0.87209	0.655000	0.94253	TCA	KCNAB2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB		0.637	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	C	NM_172130		6154520	1	no_errors	ENST00000378083	ensembl	human	known	70_37	missense	SNP	0.997	T	T	6154520	C	T	6154520	3	4	185	1	0	0	0	0	1	0	0	0	8030	838	29	1	601	1	KCNAB2	1	6154520	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4306622	6154520	243096101	3	34278										
TAS1R1	80835	genome.wustl.edu	37	chr1	6638937	6638937	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagggggccgcctgtgctttCttatgctgggctccctggca	14	13	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:6638937C>T	ENST00000333172.6	+	6	2012	c.1819C>T	c.(1819-1821)Ctt>Ttt	p.L607F	TAS1R1_ENST00000351136.3_Missense_Mutation_p.L353F|TAS1R1_ENST00000328191.4_3'UTR|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	607					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCTGTGCTTTCTTATGCTGGG	0.622																																																	0													49	48	48					1																	6638937		2203	4300	6503	SO:0001583	missense	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1819C>T	1.37:g.6638937C>T	ENSP00000331867:p.Leu607Phe		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L607F	ENST00000333172.6	37	c.1819	CCDS81.1	1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640020	0.47153	.	.	ENSG00000173662	ENST00000333172;ENST00000437392;ENST00000351136	D;D	0.91180	-2.8;-2.8	5.19	3.27	0.37495	GPCR, family 3, C-terminal (2);	0.153419	0.45361	N	0.000373	D	0.88142	0.6357	L	0.52759	1.655	0.80722	D	1	B;B	0.31241	0.099;0.315	B;B	0.37650	0.067;0.255	D	0.84292	0.0500	10	0.52906	T	0.07	.	10.1154	0.42587	0.0:0.8335:0.0:0.1665	.	353;607	Q7RTX1-2;Q7RTX1	.;TS1R1_HUMAN	F	607;275;353	ENSP00000331867:L607F;ENSP00000312558:L353F	ENSP00000331867:L607F	L	+	1	0	TAS1R1	6561524	1.000000	0.71417	0.999000	0.59377	0.640000	0.38277	1.166000	0.31834	0.528000	0.28580	0.655000	0.94253	CTT	TAS1R1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.622	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	C			6638937	1	no_errors	ENST00000333172	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6638937	C	T	6638937	3	4	185	1	0	0	0	0	1	0	0	0	15592	913	32	1	1841	1	TAS1R1	1	6638937	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	484417	6638937	242611684	4	34279										
PHF13	148479	genome.wustl.edu	37	chr1	6681563	6681563	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgagtgccacacctggattCacctgtcctgtgcgaaaatc	9	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:6681563C>T	ENST00000377648.4	+	4	1151	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	257					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CACCTGGATTCACCTGTCCTG	0.542																																																	0													81	74	76					1																	6681563		2203	4300	6503	SO:0001583	missense	148479			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"Zinc fingers, PHD-type"	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.769C>T	1.37:g.6681563C>T	ENSP00000366876:p.His257Tyr		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.H257Y	ENST00000377648.4	37	c.769	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897469	0.91962	.	.	ENSG00000116273	ENST00000377648	D	0.99005	-5.32	5.59	5.59	0.84812	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	H	0.98901	4.365	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97440	1.0021	10	0.87932	D	0	0.1016	18.5834	0.91180	0.0:1.0:0.0:0.0	.	257	Q86YI8	PHF13_HUMAN	Y	257	ENSP00000366876:H257Y	ENSP00000366876:H257Y	H	+	1	0	PHF13	6604150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.626000	0.88956	0.650000	0.86243	CAC	PHF13	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.542	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1	C	NM_153812		6681563	1	no_errors	ENST00000377648	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6681563	C	T	6681563	3	4	185	1	0	0	0	0	1	0	0	0	11848	826	29	1	783	1	PHF13	1	6681563	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	42626	6681563	242569058	5	34280										
PEX14	5195	genome.wustl.edu	37	chr1	10689811	10689811	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcccccaggaggaaggcgagGgggtggtggacgtcaagggc	21	9	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:10689811G>C	ENST00000356607.4	+	9	981	c.901G>C	c.(901-903)Ggg>Cgg	p.G301R	PEX14_ENST00000538836.1_Missense_Mutation_p.G237R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	301					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAAGGCGAGGGGGTGGTGGA	0.652																																																	0													142	131	135					1																	10689811		2192	4289	6481	SO:0001583	missense	5195			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.901G>C	1.37:g.10689811G>C	ENSP00000349016:p.Gly301Arg		B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	pfam_Pex14_N	p.G301R	ENST00000356607.4	37	c.901	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175275	0.38413	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.26957	1.74;1.7	4.49	3.55	0.40652	.	0.547580	0.19503	N	0.112692	T	0.17492	0.0420	L	0.34521	1.04	0.29831	N	0.830029	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.10268	-1.0637	10	0.33940	T	0.23	.	7.3036	0.26434	0.1005:0.1731:0.7264:0.0	.	258;301	O75381-2;O75381	.;PEX14_HUMAN	R	301;237	ENSP00000349016:G301R;ENSP00000444877:G237R	ENSP00000349016:G301R	G	+	1	0	PEX14	10612398	1.000000	0.71417	0.987000	0.45799	0.898000	0.52572	6.223000	0.72257	0.972000	0.38314	0.563000	0.77884	GGG	PEX14	-	NULL		0.652	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1	G			10689811	1	no_errors	ENST00000356607	ensembl	human	known	70_37	missense	SNP	0.988	C	C	10689811	G	C	10689811	3	2	185	1	0	0	0	0	1	0	0	0	11766	1232	43	4	935	4	PEX14	1	10689811	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4008248	10689811	238560810	6	34281										
MTOR	2475	genome.wustl.edu	37	chr1	11174382	11174382	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgatgatactcactgtccatCagcctccagttcagcaaggg	9	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:11174382C>A	ENST00000361445.4	-	53	7369	c.7293G>T	c.(7291-7293)ctG>ctT	p.L2431L	MTOR_ENST00000376838.1_Silent_p.L636L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2431	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CACTGTCCATCAGCCTCCAGT	0.542																																																	0													126	107	113					1																	11174382		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7293G>T	1.37:g.11174382C>A			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2431	ENST00000361445.4	37	c.7293	CCDS127.1	1																																																																																			MTOR	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11174382	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	silent	SNP	0.990	A	A	11174382	C	A	11174382	2	1	185	1	0	0	0	0	0	0	0	1	9977	813	29	3		3	MTOR	1	11174382	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	484571	11174382	238076239	7	34282										
MTHFR	4524	genome.wustl.edu	37	chr1	11863158	11863158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttgaggctgctgtttcctcTggcttcgttcaccatggctg	12	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:11863158T>C	ENST00000376592.1	-	1	144	c.16A>G	c.(16-18)Aga>Gga	p.R6G	MTHFR_ENST00000376590.3_Missense_Mutation_p.R6G|MTHFR_ENST00000376585.1_Missense_Mutation_p.R47G|MTHFR_ENST00000376583.3_Missense_Mutation_p.R47G			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	6					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CTGTTTCCTCTGGCTTCGTTC	0.622																																																	0			GRCh37	CM013904	MTHFR	M							66	49	55					1																	11863158		2203	4300	6503	SO:0001583	missense	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.16A>G	1.37:g.11863158T>C	ENSP00000365777:p.Arg6Gly		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.R47G	ENST00000376592.1	37	c.139	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	T	6.493	0.459128	0.12342	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034;ENST00000413656;ENST00000423400;ENST00000431243;ENST00000376486	D;D;D;D;T	0.82255	-1.57;-1.59;-1.57;-1.59;-1.45	4.83	-6.12	0.02124	.	0.794228	0.11687	N	0.539299	T	0.72486	0.3466	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.60419	-0.7267	10	0.87932	D	0	.	10.3236	0.43780	0.0:0.1906:0.5293:0.2801	.	6;47	P42898;Q5SNW6	MTHR_HUMAN;.	G	6;47;6;47;6;6;29;6;6	ENSP00000365777:R6G;ENSP00000365767:R47G;ENSP00000365775:R6G;ENSP00000365770:R47G;ENSP00000405082:R6G	ENSP00000365669:R6G	R	-	1	2	MTHFR	11785745	0.844000	0.29557	0.000000	0.03702	0.258000	0.26162	0.295000	0.19065	-0.863000	0.04084	0.448000	0.29417	AGA	MTHFR	-	NULL		0.622	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	T	NM_005957		11863158	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	missense	SNP	0.000	C	C	11863158	T	C	11863158	3	2	185	1	0	0	0	0	1	0	0	0	9954	1588	55	5	1998	5	MTHFR	1	11863158	Missense_Mutation	SNP	T	TCGA-Q1-A73O-01A-11D-A32I-09	688776	11863158	237387463	8	34283										
TNFRSF8	943	genome.wustl.edu	37	chr1	12169642	12169642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcacggcgcagaagaacacGgtctgtgagccggcttcccc	14	14	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:12169642G>A	ENST00000263932.2	+	5	663	c.441G>A	c.(439-441)acG>acA	p.T147T	TNFRSF8_ENST00000417814.2_Silent_p.T36T	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	147					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGAAGAACACGGTCTGTGAGC	0.617																																																	0													47	49	48					1																	12169642		2203	4300	6503	SO:0001819	synonymous_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.441G>A	1.37:g.12169642G>A			B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.T147	ENST00000263932.2	37	c.441	CCDS144.1	1																																																																																			TNFRSF8	-	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.617	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	G			12169642	1	no_errors	ENST00000263932	ensembl	human	known	70_37	silent	SNP	0.000	A	A	12169642	G	A	12169642	2	1	185	1	0	0	0	0	0	0	0	1	16329	1103	39	2		2	TNFRSF8	1	12169642	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	306484	12169642	237080979	9	34284										
AGMAT	79814	genome.wustl.edu	37	chr1	15905370	15905370	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcacctggctccggttgtatCtgtagggatccaaggtcgtg	13	10	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:15905370C>T	ENST00000375826.3	-	4	846	c.704G>A	c.(703-705)aGa>aAa	p.R235K	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	235					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGTTGTATCTGTAGGGATC	0.617																																					NSCLC(126;1678 1780 25805 43508 49531)												0													60	60	60					1																	15905370		2203	4300	6503	SO:0001583	missense	79814			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.704G>A	1.37:g.15905370C>T	ENSP00000364986:p.Arg235Lys		Q5TDH1|Q9H5J3	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel	p.R235K	ENST00000375826.3	37	c.704	CCDS160.1	1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274498	0.40194	.	.	ENSG00000116771	ENST00000375826	D	0.83506	-1.73	5.87	2.64	0.31445	Ureohydrolase domain (1);	0.294856	0.39407	N	0.001363	T	0.51991	0.1707	N	0.01081	-1.03	0.26525	N	0.974352	B	0.02656	0.0	B	0.09377	0.004	T	0.45308	-0.9270	10	0.23891	T	0.37	-1.6023	5.0627	0.14566	0.0:0.5817:0.1785:0.2398	.	235	Q9BSE5	SPEB_HUMAN	K	235	ENSP00000364986:R235K	ENSP00000364986:R235K	R	-	2	0	AGMAT	15777957	0.886000	0.30341	1.000000	0.80357	0.991000	0.79684	0.951000	0.29135	0.830000	0.34757	0.650000	0.86243	AGA	AGMAT	-	pfam_Ureohydrolase,tigrfam_Agmatinase-rel		0.617	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMAT	HGNC	protein_coding	OTTHUMT00000006763.1	C	NM_024758		15905370	-1	no_errors	ENST00000375826	ensembl	human	known	70_37	missense	SNP	0.961	T	T	15905370	C	T	15905370	3	4	185	1	0	0	0	0	1	0	0	0	385	913	32	1	370	1	AGMAT	1	15905370	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3735728	15905370	233345251	10	34285										
ZBTB17	7709	genome.wustl.edu	37	chr1	16268529	16268529	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgccagtgcgggctggccctCagccccgtcgcgagggcgga	17	15	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16268529C>T	ENST00000375743.4	-	16	2579	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	ZBTB17_ENST00000375733.2_Missense_Mutation_p.E790K|ZBTB17_ENST00000537142.1_Missense_Mutation_p.E701K	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	783	Interaction with HCFC1.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGGCCCTCAGCCCCGTCG	0.657																																																	0													31	33	33					1																	16268529		2201	4298	6499	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2347G>A	1.37:g.16268529C>T	ENSP00000364895:p.Glu783Lys		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E790K	ENST00000375743.4	37	c.2368	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411312	0.62399	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142	T;T;T	0.13420	2.6;2.59;2.82	4.97	4.97	0.65823	.	0.458938	0.20909	N	0.083508	T	0.12689	0.0308	N	0.24115	0.695	0.80722	D	1	B;B;B	0.24721	0.11;0.103;0.023	B;B;B	0.25140	0.04;0.058;0.01	T	0.09907	-1.0653	10	0.52906	T	0.07	.	18.2039	0.89848	0.0:1.0:0.0:0.0	.	790;701;783	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	K	783;790;702;701	ENSP00000364895:E783K;ENSP00000364885:E790K;ENSP00000438529:E701K	ENSP00000364885:E790K	E	-	1	0	ZBTB17	16141116	0.078000	0.21339	0.302000	0.25058	0.668000	0.39293	1.138000	0.31491	2.467000	0.83353	0.563000	0.77884	GAG	ZBTB17	-	NULL		0.657	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16268529	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	0.960	T	T	16268529	C	T	16268529	3	4	185	1	0	0	0	0	1	0	0	0	17557	835	29	1	68	1	ZBTB17	1	16268529	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	363159	16268529	232982092	11	34286			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16269081	16269081	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtagccagcgtgaccatgtCatccacagtgaccacgctga	11	13	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16269081C>T	ENST00000375743.4	-	14	2213	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	ZBTB17_ENST00000375733.2_Missense_Mutation_p.D661N|ZBTB17_ENST00000537142.1_Missense_Mutation_p.D579N	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	661	Interaction with HCFC1.|Interaction with MYC.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACCATGTCATCCACAGTG	0.637																																																	0													80	67	71					1																	16269081		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1981G>A	1.37:g.16269081C>T	ENSP00000364895:p.Asp661Asn		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D661N	ENST00000375743.4	37	c.1981	CCDS165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.794370|4.794370	0.90453|0.90453	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000444358	T;T;T|.	0.07327|.	3.2;3.2;3.2|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55784|0.55784	0.1942|0.1942	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;B|.	0.69078|.	0.997;0.976;0.416|.	D;P;B|.	0.66196|.	0.942;0.724;0.064|.	T|T	0.50415|0.50415	-0.8831|-0.8831	10|5	0.87932|.	D|.	0|.	.|.	19.0967|19.0967	0.93255|0.93255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	661;579;661|.	Q13105-2;F5H411;Q13105|.	.;.;ZBT17_HUMAN|.	N|I	661;661;580;579;217|217	ENSP00000364895:D661N;ENSP00000364885:D661N;ENSP00000438529:D579N|.	ENSP00000364881:D217N|.	D|M	-|-	1|3	0|0	ZBTB17|ZBTB17	16141668|16141668	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.917000|0.917000	0.54804|0.54804	5.554000|5.554000	0.67294|0.67294	2.579000|2.579000	0.87056|0.87056	0.563000|0.563000	0.77884|0.77884	GAC|ATG	ZBTB17	-	NULL		0.637	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16269081	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	0.996	T	T	16269081	C	T	16269081	3	4	185	1	0	0	0	0	1	0	0	0	17557	826	29	1	442	1	ZBTB17	1	16269081	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	552	16269081	232981540	12	34287			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16269105	16269105	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacagtgaccacgctgacctCactgccctcctcgggctcca	8	19	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16269105C>T	ENST00000375743.4	-	14	2189	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	ZBTB17_ENST00000375733.2_Missense_Mutation_p.E653K|ZBTB17_ENST00000537142.1_Missense_Mutation_p.E571K	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	653	Interaction with HCFC1.|Interaction with MYC.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTGACCTCACTGCCCTCC	0.642																																																	0													78	64	69					1																	16269105		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1957G>A	1.37:g.16269105C>T	ENSP00000364895:p.Glu653Lys		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E653K	ENST00000375743.4	37	c.1957	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176918	0.57692	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	T;T;T	0.07327	3.2;3.2;3.2	5.19	5.19	0.71726	.	0.069455	0.56097	D	0.000028	T	0.10208	0.0250	N	0.24115	0.695	0.80722	D	1	D;D;B	0.59767	0.986;0.973;0.029	P;P;B	0.50405	0.64;0.64;0.017	T	0.23547	-1.0185	10	0.30854	T	0.27	.	14.6813	0.69020	0.0:0.855:0.145:0.0	.	653;571;653	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	K	653;653;572;571;209	ENSP00000364895:E653K;ENSP00000364885:E653K;ENSP00000438529:E571K	ENSP00000364881:E209K	E	-	1	0	ZBTB17	16141692	1.000000	0.71417	0.997000	0.53966	0.462000	0.32619	7.712000	0.84684	2.579000	0.87056	0.563000	0.77884	GAG	ZBTB17	-	NULL		0.642	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16269105	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16269105	C	T	16269105	3	4	185	1	0	0	0	0	1	0	0	0	17557	835	29	1	466	1	ZBTB17	1	16269105	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	24	16269105	232981516	13	34288			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16269117	16269117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgacctcactgccctcctCgggctccaggatcttgatgc	10	16	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16269117C>T	ENST00000375743.4	-	14	2177	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	ZBTB17_ENST00000375733.2_Missense_Mutation_p.E649K|ZBTB17_ENST00000537142.1_Missense_Mutation_p.E567K	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	649	Interaction with HCFC1.|Interaction with MYC.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCTCCTCGGGCTCCAGG	0.627																																																	0													75	62	66					1																	16269117		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1945G>A	1.37:g.16269117C>T	ENSP00000364895:p.Glu649Lys		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E649K	ENST00000375743.4	37	c.1945	CCDS165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.696370|2.696370	0.48202|0.48202	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000440560	T;T;T|.	0.10382|.	2.88;2.88;2.88|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	0.406771|.	0.24866|.	N|.	0.034970|.	T|T	0.51415|0.51415	0.1673|0.1673	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;P;B|.	0.38280|.	0.473;0.625;0.005|.	B;B;B|.	0.28305|.	0.062;0.088;0.003|.	T|T	0.45804|0.45804	-0.9236|-0.9236	10|5	0.87932|.	D|.	0|.	.|.	16.2955|16.2955	0.82768|0.82768	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	649;567;649|.	Q13105-2;F5H411;Q13105|.	.;.;ZBT17_HUMAN|.	K|Q	649;649;568;567;205|48	ENSP00000364895:E649K;ENSP00000364885:E649K;ENSP00000438529:E567K|.	ENSP00000364881:E205K|.	E|R	-|-	1|2	0|0	ZBTB17|ZBTB17	16141704|16141704	0.993000|0.993000	0.37304|0.37304	0.999000|0.999000	0.59377|0.59377	0.840000|0.840000	0.47671|0.47671	3.152000|3.152000	0.50677|0.50677	2.579000|2.579000	0.87056|0.87056	0.563000|0.563000	0.77884|0.77884	GAG|CGA	ZBTB17	-	NULL		0.627	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16269117	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16269117	C	T	16269117	3	4	185	1	0	0	0	0	1	0	0	0	17557	893	31	1	478	1	ZBTB17	1	16269117	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	12	16269117	232981504	14	34289			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16269231	16269231	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcacacaggtaaggcttctCtcctgggggagcaaggttct	12	10	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16269231C>G	ENST00000375743.4	-	14	2063	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	ZBTB17_ENST00000375733.2_Missense_Mutation_p.E611Q|ZBTB17_ENST00000537142.1_Missense_Mutation_p.E529Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	611					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGGCTTCTCTCCTGGGGGA	0.592																																																	0													49	39	43					1																	16269231		2202	4300	6502	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1831G>C	1.37:g.16269231C>G	ENSP00000364895:p.Glu611Gln		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E611Q	ENST00000375743.4	37	c.1831	CCDS165.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	29.3|29.3|29.3	4.998073|4.998073|4.998073	0.93227|0.93227|0.93227	.|.|.	.|.|.	ENSG00000116809|ENSG00000116809|ENSG00000116809	ENST00000444358|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000440560	.|T;T;T|.	.|0.25912|.	.|1.77;1.77;1.77|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.76343|0.76343|0.76343	0.3974|0.3974|0.3974	M|M|M	0.71871|0.71871|0.71871	2.18|2.18|2.18	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P;D|.	.|0.89917|.	.|0.998;0.811;1.0|.	.|D;P;D|.	.|0.91635|.	.|0.994;0.554;0.999|.	T|T|T	0.74940|0.74940|0.74940	-0.3493|-0.3493|-0.3493	6|10|5	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	19.4289|19.4289|19.4289	0.94756|0.94756|0.94756	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|611;529;611|.	.|Q13105-2;F5H411;Q13105|.	.|.;.;ZBT17_HUMAN|.	D|Q|T	167|611;611;530;529;167|10	.|ENSP00000364895:E611Q;ENSP00000364885:E611Q;ENSP00000438529:E529Q|.	.|ENSP00000364881:E167Q|.	E|E|R	-|-|-	3|1|2	2|0|0	ZBTB17|ZBTB17|ZBTB17	16141818|16141818|16141818	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.978000|0.978000|0.978000	0.69477|0.69477|0.69477	3.873000|3.873000|3.873000	0.56093|0.56093|0.56093	2.579000|2.579000|2.579000	0.87056|0.87056|0.87056	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|GAG|AGA	ZBTB17	-	pfscan_Znf_C2H2		0.592	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16269231	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16269231	C	G	16269231	3	3	185	1	0	0	0	0	1	0	0	0	17557	922	32	1	592	1	ZBTB17	1	16269231	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	114	16269231	232981390	15	34290			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16270203	16270203	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggatccgaaggtgccgcttCaggttccctgtggcgagacc	14	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16270203C>T	ENST00000375743.4	-	11	1699	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Silent_p.L489L|ZBTB17_ENST00000537142.1_Silent_p.L407L	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	489					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCCGCTTCAGGTTCCCTG	0.697																																																	0													46	44	45					1																	16270203		2203	4300	6503	SO:0001819	synonymous_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1467G>A	1.37:g.16270203C>T			A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L489	ENST00000375743.4	37	c.1467	CCDS165.1	1																																																																																			ZBTB17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.697	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16270203	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	silent	SNP	0.950	T	T	16270203	C	T	16270203	2	4	185	1	0	0	0	0	0	0	0	1	17557	813	29	1		1	ZBTB17	1	16270203	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	972	16270203	232980418	16	34291			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16270867	16270867	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggtctccaggtggcgcatCttggaagtggggtcggagaa	18	7	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16270867C>G	ENST00000375743.4	-	9	1531	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.K433N|ZBTB17_ENST00000537142.1_Missense_Mutation_p.K351N|ZBTB17_ENST00000448462.2_Missense_Mutation_p.K370N	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	433					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGCGCATCTTGGAAGTGG	0.647																																																	0													71	59	63					1																	16270867		2187	4277	6464	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1299G>C	1.37:g.16270867C>G	ENSP00000364895:p.Lys433Asn		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K433N	ENST00000375743.4	37	c.1299	CCDS165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.124416|4.124416	0.77436|0.77436	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375729|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000444358;ENST00000448462	.|T;T;T;T	.|0.15017	.|3.16;3.16;3.16;2.46	5.47|5.47	4.55|4.55	0.56014|0.56014	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.29190|0.29190	0.0726|0.0726	L|L	0.38175|0.38175	1.15|1.15	0.49687|0.49687	D|D	0.999814|0.999814	.|D;D;D;D;D	.|0.89917	.|1.0;0.997;1.0;0.999;0.999	.|D;D;D;D;D	.|0.91635	.|0.999;0.996;0.996;0.977;0.991	T|T	0.01018|0.01018	-1.1479|-1.1479	6|10	0.87932|0.66056	D|D	0|0.02	.|.	10.2256|10.2256	0.43222|0.43222	0.0:0.794:0.0:0.206|0.0:0.794:0.0:0.206	.|.	.|389;370;433;351;433	.|B4DYU5;E7EPQ4;Q13105-2;F5H411;Q13105	.|.;.;.;.;ZBT17_HUMAN	H|N	19|433;433;352;351;19;370	.|ENSP00000364895:K433N;ENSP00000364885:K433N;ENSP00000438529:K351N;ENSP00000391002:K370N	ENSP00000364881:D19H|ENSP00000364885:K433N	D|K	-|-	1|3	0|2	ZBTB17|ZBTB17	16143454|16143454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.416000|4.416000	0.59815|0.59815	2.564000|2.564000	0.86499|0.86499	0.561000|0.561000	0.74099|0.74099	GAT|AAG	ZBTB17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16270867	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16270867	C	G	16270867	3	3	185	1	0	0	0	0	1	0	0	0	17557	912	32	1	1144	1	ZBTB17	1	16270867	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	664	16270867	232979754	17	34292			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16271564	16271564	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgactcctcattctcgttCtcctcgggggcctctccgtt	9	16	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16271564C>T	ENST00000375743.4	-	7	1027	c.795G>A	c.(793-795)gaG>gaA	p.E265E	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Silent_p.E265E|ZBTB17_ENST00000537142.1_Silent_p.E183E|ZBTB17_ENST00000448462.2_Silent_p.E202E	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	265					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCTCGTTCTCCTCGGGGG	0.672																																																	0													71	67	68					1																	16271564		2202	4300	6502	SO:0001819	synonymous_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.795G>A	1.37:g.16271564C>T			A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E265	ENST00000375743.4	37	c.795	CCDS165.1	1																																																																																			ZBTB17	-	NULL		0.672	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16271564	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	silent	SNP	0.037	T	T	16271564	C	T	16271564	2	4	185	1	0	0	0	0	0	0	0	1	17557	912	32	1		1	ZBTB17	1	16271564	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	697	16271564	232979057	18	34293			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16271600	16271600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgttctccagctgggaaccCtcctccttgacctcagctgg	9	17	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16271600C>T	ENST00000375743.4	-	7	991	c.759G>A	c.(757-759)gaG>gaA	p.E253E	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Silent_p.E253E|ZBTB17_ENST00000537142.1_Silent_p.E171E|ZBTB17_ENST00000448462.2_Silent_p.E190E	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	253					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGGAACCCTCCTCCTTGA	0.662																																																	0													87	78	81					1																	16271600		2203	4300	6503	SO:0001819	synonymous_variant	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.759G>A	1.37:g.16271600C>T			A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E253	ENST00000375743.4	37	c.759	CCDS165.1	1																																																																																			ZBTB17	-	NULL		0.662	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16271600	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	silent	SNP	0.732	T	T	16271600	C	T	16271600	2	4	185	1	0	0	0	0	0	0	0	1	17557	680	24	4		4	ZBTB17	1	16271600	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	36	16271600	232979021	19	34294			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16271638	16271638	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggccctgcgccctcctcctCttgctcctcttgctcctttt	6	19	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16271638C>G	ENST00000375743.4	-	7	953	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.E241Q|ZBTB17_ENST00000537142.1_Missense_Mutation_p.E159Q|ZBTB17_ENST00000448462.2_Missense_Mutation_p.E178Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	241					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		Ccctcctcctcttgctcctct	0.632																																																	0													104	90	95					1																	16271638		2199	4297	6496	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.721G>C	1.37:g.16271638C>G	ENSP00000364895:p.Glu241Gln		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E241Q	ENST00000375743.4	37	c.721	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883967	0.33255	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000448462	T;T;T;T	0.12774	2.66;2.65;2.96;2.85	5.37	3.43	0.39272	.	0.643291	0.14403	N	0.321774	T	0.14787	0.0357	L	0.29908	0.895	0.31631	N	0.64902	D;P;B;B;B;B	0.58970	0.984;0.828;0.009;0.033;0.048;0.005	P;B;B;B;B;B	0.53360	0.724;0.341;0.008;0.008;0.037;0.004	T	0.03576	-1.1023	10	0.14656	T	0.56	.	9.2986	0.37831	0.0:0.6549:0.2704:0.0747	.	165;178;241;159;241;241	B4DYU5;E7EPQ4;Q13105-2;F5H411;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	Q	241;241;160;159;178	ENSP00000364895:E241Q;ENSP00000364885:E241Q;ENSP00000438529:E159Q;ENSP00000391002:E178Q	ENSP00000364885:E241Q	E	-	1	0	ZBTB17	16144225	0.003000	0.15002	0.037000	0.18230	0.347000	0.29111	-1.065000	0.03458	1.221000	0.43506	0.561000	0.74099	GAG	ZBTB17	-	NULL		0.632	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16271638	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	0.903	G	G	16271638	C	G	16271638	3	3	185	1	0	0	0	0	1	0	0	0	17557	922	32	1	1730	1	ZBTB17	1	16271638	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	38	16271638	232978983	20	34295			1	140		11	11	6459	C		4.383402e-12
ZBTB17	7709	genome.wustl.edu	37	chr1	16274987	16274987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggctgtgctggggaaagtCcatggctgaagaaagccaaa	14	8	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16274987C>A	ENST00000375743.4	-	3	236	c.4G>T	c.(4-6)Gac>Tac	p.D2Y	ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375733.2_Missense_Mutation_p.D2Y|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.D2Y	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	2	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGAAAGTCCATGGCTGAA	0.567																																																	0													46	45	46					1																	16274987		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.4G>T	1.37:g.16274987C>A	ENSP00000364895:p.Asp2Tyr		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D2Y	ENST00000375743.4	37	c.4	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.091020	0.94149	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000448462	T;T;T	0.71103	1.99;1.99;-0.54	5.3	5.3	0.74995	BTB/POZ fold (2);	0.061993	0.64402	D	0.000005	T	0.80959	0.4724	L	0.46157	1.445	0.46416	D	0.999033	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;P;D	0.85130	0.946;0.997;0.906;0.997;0.887;0.988	T	0.82319	-0.0516	10	0.87932	D	0	.	18.3218	0.90241	0.0:1.0:0.0:0.0	.	2;2;2;2;2;2	B4DGV6;E7EPQ4;Q13105-2;B4DSM7;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	Y	2	ENSP00000364895:D2Y;ENSP00000364885:D2Y;ENSP00000391002:D2Y	ENSP00000364885:D2Y	D	-	1	0	ZBTB17	16147574	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.666000	0.83877	2.649000	0.89929	0.561000	0.74099	GAC	ZBTB17	-	superfamily_BTB/POZ_fold		0.567	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16274987	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16274987	C	A	16274987	3	1	185	1	0	0	0	0	1	0	0	0	17557	855	30	3	2463	3	ZBTB17	1	16274987	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3349	16274987	232975634	21	34296			1	140		11	11	6459	C		4.383402e-12
CLCNKA	1187	genome.wustl.edu	37	chr1	16355708	16355708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagcccaccctggcccgagGagctcgacccccagcacctt	9	21	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16355708G>A	ENST00000331433.4	+	12	1160	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	CLCNKA_ENST00000420078.1_Missense_Mutation_p.E381K|CLCNKA_ENST00000375692.1_Missense_Mutation_p.E381K|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.E338K			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	381					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTGGCCCGAGGAGCTCGACCC	0.622																																																	0													79	79	79					1																	16355708		2203	4300	6503	SO:0001583	missense	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1141G>A	1.37:g.16355708G>A	ENSP00000332771:p.Glu381Lys		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.E381K	ENST00000331433.4	37	c.1141	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278103	0.59758	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.84873	-1.85;-1.85;-1.91;-1.85	3.2	2.25	0.28309	Chloride channel, core (1);	0.737416	0.13696	N	0.369172	T	0.76550	0.4003	L	0.40543	1.245	0.31269	N	0.691925	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.17979	0.02;0.013;0.013	T	0.68780	-0.5318	10	0.30854	T	0.27	.	6.7437	0.23451	0.1393:0.0:0.8607:0.0	.	338;381;381	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	K	381;381;338;381	ENSP00000364844:E381K;ENSP00000410353:E381K;ENSP00000414445:E338K;ENSP00000332771:E381K	ENSP00000332771:E381K	E	+	1	0	CLCNKA	16228295	0.885000	0.30320	0.101000	0.21167	0.463000	0.32649	3.032000	0.49736	0.648000	0.30732	0.313000	0.20887	GAG	CLCNKA	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.622	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	G			16355708	1	no_errors	ENST00000331433	ensembl	human	known	70_37	missense	SNP	0.855	A	A	16355708	G	A	16355708	3	1	185	1	0	0	0	0	1	0	0	0	3474	1175	41	1	1183	1	CLCNKA	1	16355708	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	80721	16355708	232894913	22	34297										
EPHA2	1969	genome.wustl.edu	37	chr1	16455987	16455987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccggccgccatgaagtgctCcgtatactgctgcatcttga	11	13	1	2	rs371967970		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16455987C>T	ENST00000358432.5	-	16	2921	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	923	Negatively regulates interaction with ARHGEF16.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ATGAAGTGCTCCGTATACTGC	0.647																																																	0													85	76	79					1																	16455987		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2767G>A	1.37:g.16455987C>T	ENSP00000351209:p.Glu923Lys		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.E923K	ENST00000358432.5	37	c.2767	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.791138	0.96945	.	.	ENSG00000142627	ENST00000358432	T	0.51574	0.7	5.78	5.78	0.91487	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.56097	D	0.000033	T	0.67468	0.2896	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.69018	-0.5256	10	0.87932	D	0	.	18.5625	0.91105	0.0:1.0:0.0:0.0	.	923	P29317	EPHA2_HUMAN	K	923	ENSP00000351209:E923K	ENSP00000351209:E923K	E	-	1	0	EPHA2	16328574	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.001000	0.70685	2.738000	0.93877	0.591000	0.81541	GAG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16455987	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16455987	C	T	16455987	3	4	185	1	0	0	0	0	1	0	0	0	5179	864	30	1	171	1	EPHA2	1	16455987	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	100279	16455987	232794634	23	34298										
ARHGEF19	128272	genome.wustl.edu	37	chr1	16528973	16528973	+	Silent	SNP	G	G	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgtggaggagctggaggagGaacacgtggccggggatgcc							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16528973G>A	ENST00000270747.3	-	13	2140	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	668	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGAGGAGGAACACGTGGC	0.647																																																	0													55	47	50					1																	16528973		2203	4300	6503	SO:0001819	synonymous_variant	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.2004C>T	1.37:g.16528973G>A			A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.F668	ENST00000270747.3	37	c.2004	CCDS170.1	1																																																																																			ARHGEF19	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.647	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	G	NM_153213		16528973	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	silent	SNP	1.000	A	A	16528973	G	A	16528973	2	1	185	1	0	0	0	0	0	0	0	1	902	1165	41	1		1	ARHGEF19	1	16528973	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	72986	16528973	232721648	24	34299	220	2								
ARHGEF19	128272	genome.wustl.edu	37	chr1	16528979	16528979	+	Missense_Mutation	SNP	G	G	C													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggagctggaggaggaacacGtggccggggatgccctgcag							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16528979G>C	ENST00000270747.3	-	13	2134	c.1998C>G	c.(1996-1998)caC>caG	p.H666Q	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	666	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGAACACGTGGCCGGGGA	0.642																																																	0													56	48	51					1																	16528979		2203	4300	6503	SO:0001583	missense	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1998C>G	1.37:g.16528979G>C	ENSP00000270747:p.His666Gln		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.H666Q	ENST00000270747.3	37	c.1998	CCDS170.1	1	.	.	.	.	.	.	.	.	.	.	g	12.32	1.903430	0.33628	.	.	ENSG00000142632	ENST00000270747	T	0.62639	0.01	4.81	-0.942	0.10398	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.278439	0.32386	N	0.006166	T	0.35219	0.0924	N	0.17474	0.49	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.09840	-1.0656	10	0.56958	D	0.05	.	0.7197	0.00938	0.2866:0.2425:0.3145:0.1563	.	666	Q8IW93	ARHGJ_HUMAN	Q	666	ENSP00000270747:H666Q	ENSP00000270747:H666Q	H	-	3	2	ARHGEF19	16401566	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.350000	0.34010	0.212000	0.20703	0.461000	0.40582	CAC	ARHGEF19	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.642	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	G	NM_153213		16528979	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	missense	SNP	0.997	C	C	16528979	G	C	16528979	3	2	185	1	0	0	0	0	1	0	0	0	902	1136	40	2	426	2	ARHGEF19	1	16528979	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6	16528979	232721642	25	34300	220	2								
C1orf89	79363	genome.wustl.edu	37	chr1	16558761	16558761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaaggctgtgaggtcccgctCgggcacgtccgtgtgcatgt	16	11	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16558761C>T	ENST00000375599.3	-	5	978	c.559G>A	c.(559-561)Gag>Aag	p.E187K	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	187	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AGGTCCCGCTCGGGCACGTCC	0.672																																																	0													17	23	21					1																	16558761		2197	4296	6493	SO:0001583	missense	79363			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"		"chromosome 1 open reading frame 89"	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.559G>A	1.37:g.16558761C>T	ENSP00000364749:p.Glu187Lys		Q5TEV7	Missense_Mutation	SNP	pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase	p.E187K	ENST00000375599.3	37	c.559	CCDS171.1	1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262704	0.59431	.	.	ENSG00000132881	ENST00000375599	T	0.74737	-0.87	5.47	5.47	0.80525	.	0.052274	0.85682	D	0.000000	T	0.59838	0.2223	L	0.34521	1.04	0.58432	D	0.999997	P	0.46621	0.881	B	0.35413	0.202	T	0.60806	-0.7190	10	0.11485	T	0.65	-31.7124	16.8326	0.85948	0.0:1.0:0.0:0.0	.	187	Q9BU20	RSG1_HUMAN	K	187	ENSP00000364749:E187K	ENSP00000364749:E187K	E	-	1	0	RSG1	16431348	1.000000	0.71417	0.803000	0.32268	0.039000	0.13416	5.375000	0.66173	2.553000	0.86117	0.655000	0.94253	GAG	RSG1	-	pfam_Small_GTPase		0.672	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSG1	HGNC	protein_coding	OTTHUMT00000006279.2	C	NM_030907		16558761	-1	no_errors	ENST00000375599	ensembl	human	known	70_37	missense	SNP	0.999	T	T	16558761	C	T	16558761	3	4	185	1	0	0	0	0	1	0	0	0	2071	893	31	1	221	1	C1orf89	1	16558761	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	29782	16558761	232691860	26	34301										
SPATA21	374955	genome.wustl.edu	37	chr1	16736453	16736453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctgccggaagttcccgaggCtctgtgtccctgcagccacc	11	17	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:16736453C>T	ENST00000335496.1	-	6	712	c.230G>A	c.(229-231)aGc>aAc	p.S77N	SPATA21_ENST00000540400.1_Missense_Mutation_p.S54N|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	77							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GTTCCCGAGGCTCTGTGTCCC	0.657																																																	0													39	40	39					1																	16736453		2203	4300	6503	SO:0001583	missense	374955				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.230G>A	1.37:g.16736453C>T	ENSP00000335612:p.Ser77Asn		B9EK40|F5GXP5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S77N	ENST00000335496.1	37	c.230	CCDS172.1	1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.554131	0.00918	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.63255	-0.01;-0.03	3.38	-6.03	0.02185	.	3.725310	0.00465	N	0.000118	T	0.31513	0.0799	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47275	-0.9130	10	0.05620	T	0.96	-0.307	8.1991	0.31413	0.0:0.6208:0.1428:0.2364	.	54;77	F5GXP5;Q7Z572	.;SPT21_HUMAN	N	77;54	ENSP00000335612:S77N;ENSP00000440046:S54N	ENSP00000335612:S77N	S	-	2	0	SPATA21	16609040	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.818000	0.04467	-1.442000	0.01955	-1.959000	0.00480	AGC	SPATA21	-	NULL		0.657	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA21	HGNC	protein_coding	OTTHUMT00000006677.2	C	NM_198546		16736453	-1	no_errors	ENST00000335496	ensembl	human	known	70_37	missense	SNP	0.000	T	T	16736453	C	T	16736453	3	4	185	1	0	0	0	0	1	0	0	0	15037	797	28	4	1211	4	SPATA21	1	16736453	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	177692	16736453	232514168	27	34302										
ATP13A2	23400	genome.wustl.edu	37	chr1	17313385	17313385	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggaagctggacagagagaaGaccacggtgttctcgtagtt	14	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:17313385G>C	ENST00000326735.8	-	27	3183	c.3150C>G	c.(3148-3150)gtC>gtG	p.V1050V	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.V1006V|ATP13A2_ENST00000452699.1_Silent_p.V1045V			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1050					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACAGAGAGAAGACCACGGTGT	0.637																																																	0													95	78	84					1																	17313385		2203	4300	6503	SO:0001819	synonymous_variant	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.3150C>G	1.37:g.17313385G>C			O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.V1050	ENST00000326735.8	37	c.3150	CCDS175.1	1																																																																																			ATP13A2	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.637	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	G	NM_022089		17313385	-1	no_errors	ENST00000326735	ensembl	human	known	70_37	silent	SNP	0.998	C	C	17313385	G	C	17313385	2	2	185	1	0	0	0	0	0	0	0	1	1125	929	33	1		1	ATP13A2	1	17313385	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	576932	17313385	231937236	28	34303										
PADI3	51702	genome.wustl.edu	37	chr1	17597379	17597379	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtctgcccctgcaggatttCtcggcatcccctatcttcac	8	16	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:17597379C>T	ENST00000375460.3	+	8	877	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	279					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCAGGATTTCTCGGCATCCC	0.582																																																	0													72	65	68					1																	17597379		2203	4300	6503	SO:0001819	synonymous_variant	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.837C>T	1.37:g.17597379C>T			Q58EY7|Q70SX5	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.F279	ENST00000375460.3	37	c.837	CCDS179.1	1																																																																																			PADI3	-	superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.582	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	C			17597379	1	no_errors	ENST00000375460	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17597379	C	T	17597379	2	4	185	1	0	0	0	0	0	0	0	1	11403	912	32	1		1	PADI3	1	17597379	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	283994	17597379	231653242	29	34304										
PADI3	51702	genome.wustl.edu	37	chr1	17597449	17597449	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggatcatgacgcccagcactCtgccacccctagaggtgtat	10	14	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:17597449C>G	ENST00000375460.3	+	8	947	c.907C>G	c.(907-909)Ctg>Gtg	p.L303V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	303					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCCAGCACTCTGCCACCCCT	0.632																																																	0													73	68	69					1																	17597449		2203	4300	6503	SO:0001583	missense	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.907C>G	1.37:g.17597449C>G	ENSP00000364609:p.Leu303Val		Q58EY7|Q70SX5	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L303V	ENST00000375460.3	37	c.907	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991685	0.35131	.	.	ENSG00000142619	ENST00000375460	T	0.24538	1.85	5.55	4.64	0.57946	Protein-arginine deiminase, C-terminal (1);	0.418027	0.24662	N	0.036639	T	0.30230	0.0758	M	0.67397	2.05	0.33815	D	0.628367	B	0.26081	0.141	B	0.34873	0.191	T	0.39522	-0.9610	10	0.36615	T	0.2	-5.2222	9.0624	0.36442	0.1494:0.7732:0.0:0.0774	.	303	Q9ULW8	PADI3_HUMAN	V	303	ENSP00000364609:L303V	ENSP00000364609:L303V	L	+	1	2	PADI3	17470036	0.013000	0.17824	0.946000	0.38457	0.614000	0.37383	2.523000	0.45580	1.335000	0.45486	-0.310000	0.09108	CTG	PADI3	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.632	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	C			17597449	1	no_errors	ENST00000375460	ensembl	human	known	70_37	missense	SNP	0.993	G	G	17597449	C	G	17597449	3	3	185	1	0	0	0	0	1	0	0	0	11403	912	32	1	937	1	PADI3	1	17597449	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	70	17597449	231653172	30	34305										
TAS1R2	80834	genome.wustl.edu	37	chr1	19180795	19180795	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggccacagcatagaccgcaGagtacacgctgtagacgaca	12	12	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:19180795G>C	ENST00000375371.3	-	3	1190	c.1169C>G	c.(1168-1170)tCt>tGt	p.S390C	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	390					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATAGACCGCAGAGTACACGCT	0.597																																																	0													105	93	97					1																	19180795		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1169C>G	1.37:g.19180795G>C	ENSP00000364520:p.Ser390Cys		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.S390C	ENST00000375371.3	37	c.1169	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	G	9.907	1.208494	0.22205	.	.	ENSG00000179002	ENST00000375371	D	0.83163	-1.69	4.41	3.47	0.39725	Extracellular ligand-binding receptor (1);	1.117080	0.06950	N	0.814355	D	0.87811	0.6271	L	0.61218	1.895	0.09310	N	1	D	0.67145	0.996	P	0.62649	0.905	T	0.74244	-0.3728	10	0.56958	D	0.05	.	6.9728	0.24658	0.2053:0.0:0.7947:0.0	.	390	Q8TE23	TS1R2_HUMAN	C	390	ENSP00000364520:S390C	ENSP00000364520:S390C	S	-	2	0	TAS1R2	19053382	1.000000	0.71417	0.136000	0.22124	0.117000	0.20001	3.750000	0.55157	2.287000	0.76781	0.462000	0.41574	TCT	TAS1R2	-	pfam_ANF_lig-bd_rcpt		0.597	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	G			19180795	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	missense	SNP	0.147	C	C	19180795	G	C	19180795	3	2	185	1	0	0	0	0	1	0	0	0	15593	942	33	1	1366	1	TAS1R2	1	19180795	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1583346	19180795	230069826	31	34306										
UBR4	23352	genome.wustl.edu	37	chr1	19490755	19490755	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcatcatcttaccatctgctCagccaatccacagcagcatt	4	15	5	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:19490755C>T	ENST00000375254.3	-	33	4719	c.4692G>A	c.(4690-4692)ctG>ctA	p.L1564L	UBR4_ENST00000375217.2_Silent_p.L1564L|UBR4_ENST00000375226.2_Silent_p.L1564L|UBR4_ENST00000375267.2_Silent_p.L1564L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1564					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCATCTGCTCAGCCAATCCA	0.448																																																	0													72	61	65					1																	19490755		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4692G>A	1.37:g.19490755C>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L1564	ENST00000375254.3	37	c.4692	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold		0.448	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19490755	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19490755	C	T	19490755	2	4	185	1	0	0	0	0	0	0	0	1	16935	813	29	1		1	UBR4	1	19490755	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	309960	19490755	229759866	32	34307										
OTUD3	23252	genome.wustl.edu	37	chr1	20216933	20216933	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agggacactcacgaaatcatCtcaagcacagacaggagaca	9	11	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:20216933C>G	ENST00000375120.3	+	2	278	c.277C>G	c.(277-279)Ctc>Gtc	p.L93V		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	93	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACGAAATCATCTCAAGCACAG	0.418																																																	0													199	186	190					1																	20216933		1979	4168	6147	SO:0001583	missense	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.277C>G	1.37:g.20216933C>G	ENSP00000364261:p.Leu93Val		O75047	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.L93V	ENST00000375120.3	37	c.277	CCDS41279.1	1	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039696	0.19669	.	.	ENSG00000169914	ENST00000375120	T	0.28666	1.6	5.22	3.3	0.37823	Ovarian tumour, otubain (2);	0.061993	0.64402	N	0.000004	T	0.25306	0.0615	L	0.48935	1.535	0.45108	D	0.998121	B	0.06786	0.001	B	0.13407	0.009	T	0.04537	-1.0944	10	0.30078	T	0.28	.	9.7418	0.40422	0.1593:0.6874:0.1532:0.0	.	93	Q5T2D3	OTUD3_HUMAN	V	93	ENSP00000364261:L93V	ENSP00000364261:L93V	L	+	1	0	OTUD3	20089520	1.000000	0.71417	0.998000	0.56505	0.202000	0.24057	2.689000	0.46993	0.669000	0.31146	0.404000	0.27445	CTC	OTUD3	-	pfam_OTU,pfscan_OTU		0.418	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	C			20216933	1	no_errors	ENST00000375120	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20216933	C	G	20216933	3	3	185	1	0	0	0	0	1	0	0	0	11337	913	32	1	283	1	OTUD3	1	20216933	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	726178	20216933	229033688	33	34308										
OTUD3	23252	genome.wustl.edu	37	chr1	20230837	20230837	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atggactctgaagacgacctGagagatgaagtagaggatgc	14	6	1	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:20230837G>A	ENST00000375120.3	+	5	685	c.684G>A	c.(682-684)ctG>ctA	p.L228L		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	228					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACGACCTGAGAGATGAAG	0.368																																																	0													169	163	165					1																	20230837		1914	4135	6049	SO:0001819	synonymous_variant	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.684G>A	1.37:g.20230837G>A			O75047	Silent	SNP	pfam_OTU,pfscan_OTU	p.L228	ENST00000375120.3	37	c.684	CCDS41279.1	1																																																																																			OTUD3	-	NULL		0.368	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	G			20230837	1	no_errors	ENST00000375120	ensembl	human	known	70_37	silent	SNP	0.976	A	A	20230837	G	A	20230837	2	1	185	1	0	0	0	0	0	0	0	1	11337	1277	45	1		1	OTUD3	1	20230837	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	13904	20230837	229019784	34	34309										
OTUD3	23252	genome.wustl.edu	37	chr1	20234122	20234122	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagaagaagcggcaggaggaGaggcaccgccacaaagccct	14	11	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:20234122G>C	ENST00000375120.3	+	8	1081	c.1080G>C	c.(1078-1080)gaG>gaC	p.E360D		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	360					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGGAGGAGAGGCACCGCC	0.572																																																	0													49	64	59					1																	20234122		2105	4219	6324	SO:0001583	missense	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.1080G>C	1.37:g.20234122G>C	ENSP00000364261:p.Glu360Asp		O75047	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E360D	ENST00000375120.3	37	c.1080	CCDS41279.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973549	0.74246	.	.	ENSG00000169914	ENST00000375120	T	0.34472	1.36	5.93	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.62723	1.935	0.50632	D	0.999887	D	0.67145	0.996	D	0.63192	0.912	T	0.42599	-0.9442	10	0.38643	T	0.18	.	10.0747	0.42353	0.2928:0.0:0.7072:0.0	.	360	Q5T2D3	OTUD3_HUMAN	D	360	ENSP00000364261:E360D	ENSP00000364261:E360D	E	+	3	2	OTUD3	20106709	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.346000	0.33964	0.854000	0.35336	-0.140000	0.14226	GAG	OTUD3	-	NULL		0.572	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	G			20234122	1	no_errors	ENST00000375120	ensembl	human	known	70_37	missense	SNP	0.980	C	C	20234122	G	C	20234122	3	2	185	1	0	0	0	0	1	0	0	0	11337	933	33	1	1110	1	OTUD3	1	20234122	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3285	20234122	229016499	35	34310										
HSPG2	3339	genome.wustl.edu	37	chr1	22161247	22161247	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcagcgatactgtcccgcatCagccagctctacgtgggcga	12	14	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22161247C>A	ENST00000374695.3	-	77	10724	c.10645G>T	c.(10645-10647)Gat>Tat	p.D3549Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3549	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGTCCCGCATCAGCCAGCTCT	0.607																																																	0													108	73	85					1																	22161247		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10645G>T	1.37:g.22161247C>A	ENSP00000363827:p.Asp3549Tyr		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.D3549Y	ENST00000374695.3	37	c.10645	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052555	0.55218	.	.	ENSG00000142798	ENST00000374695;ENST00000426143	D;D	0.81821	-1.54;-1.54	4.54	4.54	0.55810	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39687	N	0.001283	D	0.90950	0.7155	M	0.88450	2.955	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92961	0.6389	10	0.87932	D	0	.	15.8576	0.78994	0.0:1.0:0.0:0.0	.	1489;3549	Q59EG0;P98160	.;PGBM_HUMAN	Y	3549;101	ENSP00000363827:D3549Y;ENSP00000392022:D101Y	ENSP00000363827:D3549Y	D	-	1	0	HSPG2	22033834	1.000000	0.71417	0.361000	0.25849	0.216000	0.24613	7.330000	0.79181	2.072000	0.62099	0.313000	0.20887	GAT	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.607	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22161247	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.998	A	A	22161247	C	A	22161247	3	1	185	1	0	0	0	0	1	0	0	0	7450	826	29	3	2614	3	HSPG2	1	22161247	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1927125	22161247	227089374	36	34311										
HSPG2	3339	genome.wustl.edu	37	chr1	22170719	22170719	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcccgggcaccacgcacttCagatccagggtctgcccttc	10	17	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22170719C>G	ENST00000374695.3	-	65	8617	c.8538G>C	c.(8536-8538)ctG>ctC	p.L2846L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2846	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCACGCACTTCAGATCCAGGG	0.672																																																	0													63	62	62					1																	22170719		2203	4300	6503	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8538G>C	1.37:g.22170719C>G			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.L2846	ENST00000374695.3	37	c.8538	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.672	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22170719	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	silent	SNP	1.000	G	G	22170719	C	G	22170719	2	3	185	1	0	0	0	0	0	0	0	1	7450	813	29	1		1	HSPG2	1	22170719	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	9472	22170719	227079902	37	34312										
HSPG2	3339	genome.wustl.edu	37	chr1	22202129	22202129	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cggctccagacacctgctctCagcgggctgctgggcgtagg	15	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22202129C>T	ENST00000374695.3	-	25	3374	c.3295G>A	c.(3295-3297)Gag>Aag	p.E1099K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1099	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CACCTGCTCTCAGCGGGCTGC	0.657																																																	0													52	58	56					1																	22202129		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3295G>A	1.37:g.22202129C>T	ENSP00000363827:p.Glu1099Lys		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.E1099K	ENST00000374695.3	37	c.3295	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021513	0.75275	.	.	ENSG00000142798	ENST00000374695	T	0.36157	1.27	5.44	5.44	0.79542	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.40385	N	0.001116	T	0.59783	0.2219	M	0.65677	2.01	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.62001	-0.6946	10	0.72032	D	0.01	.	16.7485	0.85479	0.0:1.0:0.0:0.0	.	1099	P98160	PGBM_HUMAN	K	1099	ENSP00000363827:E1099K	ENSP00000363827:E1099K	E	-	1	0	HSPG2	22074716	1.000000	0.71417	0.953000	0.39169	0.144000	0.21451	5.348000	0.66004	2.551000	0.86045	0.511000	0.50034	GAG	HSPG2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22202129	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.999	T	T	22202129	C	T	22202129	3	4	185	1	0	0	0	0	1	0	0	0	7450	835	29	1	10172	1	HSPG2	1	22202129	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	31410	22202129	227048492	38	34313										
HSPG2	3339	genome.wustl.edu	37	chr1	22202741	22202741	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccttgtcccccaggaagcgtGaagggaggctccagaagtag	14	11	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22202741G>C	ENST00000374695.3	-	23	3063	c.2984C>G	c.(2983-2985)tCa>tGa	p.S995*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	995	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	caggAAGCGTGAAGGGAGGCT	0.607																																																	0													38	37	38					1																	22202741		2203	4300	6503	SO:0001587	stop_gained	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2984C>G	1.37:g.22202741G>C	ENSP00000363827:p.Ser995*		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.S995*	ENST00000374695.3	37	c.2984	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.582153	0.98371	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.01	4.1	0.47936	.	0.913415	0.08919	N	0.874639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	6.4232	0.21756	0.0939:0.0:0.726:0.1801	.	.	.	.	X	995	.	ENSP00000363827:S995X	S	-	2	0	HSPG2	22075328	0.024000	0.19004	0.002000	0.10522	0.593000	0.36681	2.164000	0.42387	1.112000	0.41740	0.561000	0.74099	TCA	HSPG2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.607	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22202741	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	nonsense	SNP	0.004	C	C	22202741	G	C	22202741	4	2	185	1	0	0	0	0	0	1	0	0	7450	1294	45	1	10491	1	HSPG2	1	22202741	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	612	22202741	227047880	39	34314										
CELA3A	10136	genome.wustl.edu	37	chr1	22329499	22329499	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctcctctcccctctagcctCaggctatggcccaccttcct	5	20	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22329499C>T	ENST00000290122.3	+	2	66	c.47C>T	c.(46-48)tCa>tTa	p.S16L	CELA3A_ENST00000374663.1_Missense_Mutation_p.S16L|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	16					cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCTAGCCTCAGGCTATGGC	0.597																																																	0													66	89	81					1																	22329499		2195	4298	6493	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.47C>T	1.37:g.22329499C>T	ENSP00000290122:p.Ser16Leu		B1AQ53|Q9BRW4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S16L	ENST00000290122.3	37	c.47	CCDS220.1	1	.	.	.	.	.	.	.	.	.	.	C	5.903	0.350623	0.11182	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	D;D	0.92249	-2.33;-3.0	3.32	1.28	0.21552	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.80031	0.4549	N	0.16166	0.38	0.24371	N	0.994836	B	0.06786	0.001	B	0.04013	0.001	T	0.63611	-0.6598	9	0.10902	T	0.67	-0.001	4.2365	0.10628	0.223:0.6488:0.0:0.1282	.	16	P09093	CEL3A_HUMAN	L	16;16;32	ENSP00000290122:S16L;ENSP00000363795:S16L	ENSP00000290122:S16L	S	+	2	0	CELA3A	22202086	0.006000	0.16342	0.216000	0.23742	0.039000	0.13416	-0.021000	0.12504	0.195000	0.20347	0.400000	0.26472	TCA	CELA3A	-	superfamily_Pept_cys/ser_Trypsin-like		0.597	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	C	NM_005747		22329499	1	no_errors	ENST00000290122	ensembl	human	known	70_37	missense	SNP	0.750	T	T	22329499	C	T	22329499	3	4	185	1	0	0	0	0	1	0	0	0	3218	838	29	1	53	1	CELA3A	1	22329499	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	126758	22329499	226921122	40	34315										
ZBTB40	9923	genome.wustl.edu	37	chr1	22835630	22835630	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccactttagaaacaatcctGaggcataaccagttgatctt	7	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22835630G>C	ENST00000375647.4	+	9	1944	c.1737G>C	c.(1735-1737)ctG>ctC	p.L579L	ZBTB40_ENST00000374651.4_Silent_p.L467L|ZBTB40_ENST00000404138.1_Silent_p.L579L	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	579					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAACAATCCTGAGGCATAACC	0.463																																																	0													152	146	148					1																	22835630		2203	4300	6503	SO:0001819	synonymous_variant	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1737G>C	1.37:g.22835630G>C			O75066|Q5TFU5|Q8N1R1	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L579	ENST00000375647.4	37	c.1737	CCDS224.1	1																																																																																			ZBTB40	-	NULL		0.463	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	G	NM_014870		22835630	1	no_errors	ENST00000375647	ensembl	human	known	70_37	silent	SNP	1.000	C	C	22835630	G	C	22835630	2	2	185	1	0	0	0	0	0	0	0	1	17572	1277	45	1		1	ZBTB40	1	22835630	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	506131	22835630	226414991	41	34316										
C1QC	714	genome.wustl.edu	37	chr1	22974165	22974165	+	Silent	SNP	G	G	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aactcgggcggtgtgctgctGaggttgcaggtgggcgagga							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22974165G>A	ENST00000374639.3	+	3	745	c.627G>A	c.(625-627)ctG>ctA	p.L209L	C1QC_ENST00000374640.4_Silent_p.L209L|C1QC_ENST00000374637.1_Silent_p.L209L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	209	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGTGCTGCTGAGGTTGCAGG	0.602																																					Ovarian(26;671 750 8290 29071 43278)												0													119	114	116					1																	22974165		2203	4300	6503	SO:0001819	synonymous_variant	714			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.627G>A	1.37:g.22974165G>A			Q7Z502|Q96DL2|Q96H05	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L209	ENST00000374639.3	37	c.627	CCDS227.1	1																																																																																			C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.602	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1	G	NM_172369		22974165	1	no_errors	ENST00000374637	ensembl	human	known	70_37	silent	SNP	0.467	A	A	22974165	G	A	22974165	2	1	185	1	0	0	0	0	0	0	0	1	1962	1277	45	1		1	C1QC	1	22974165	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	138535	22974165	226276456	42	34317	221	2								
C1QC	714	genome.wustl.edu	37	chr1	22974171	22974171	+	Silent	SNP	G	G	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcggtgtgctgctgaggttGcaggtgggcgaggaggtgtg							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:22974171G>A	ENST00000374639.3	+	3	751	c.633G>A	c.(631-633)ttG>ttA	p.L211L	C1QC_ENST00000374640.4_Silent_p.L211L|C1QC_ENST00000374637.1_Silent_p.L211L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	211	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCTGAGGTTGCAGGTGGGCG	0.607																																					Ovarian(26;671 750 8290 29071 43278)												0													117	112	114					1																	22974171		2203	4300	6503	SO:0001819	synonymous_variant	714			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.633G>A	1.37:g.22974171G>A			Q7Z502|Q96DL2|Q96H05	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L211	ENST00000374639.3	37	c.633	CCDS227.1	1																																																																																			C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.607	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1	G	NM_172369		22974171	1	no_errors	ENST00000374637	ensembl	human	known	70_37	silent	SNP	0.326	A	A	22974171	G	A	22974171	2	1	185	1	0	0	0	0	0	0	0	1	1962	1310	46	4		4	C1QC	1	22974171	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6	22974171	226276450	43	34318	221	2								
EPHB2	2048	genome.wustl.edu	37	chr1	23236890	23236890	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccaggtaatcaatgccattGagcaggactatcggctgcca	10	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:23236890G>A	ENST00000400191.3	+	14	2536	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	EPHB2_ENST00000374632.3_Missense_Mutation_p.E841K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E840K|EPHB2_ENST00000374627.1_Missense_Mutation_p.E835K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	840	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAATGCCATTGAGCAGGACTA	0.612																																																	0													101	74	83					1																	23236890		2203	4300	6503	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2518G>A	1.37:g.23236890G>A	ENSP00000383053:p.Glu840Lys		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E840K	ENST00000400191.3	37	c.2518		1	.	.	.	.	.	.	.	.	.	.	G	33	5.276459	0.95459	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	4.64	4.64	0.57946	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83234	0.5210	N	0.14661	0.345	0.80722	D	1	P;D;D;P	0.62365	0.956;0.991;0.991;0.938	P;D;D;P	0.66084	0.758;0.941;0.921;0.902	D	0.86523	0.1817	10	0.87932	D	0	.	16.6405	0.85070	0.0:0.0:1.0:0.0	.	782;840;858;841	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	K	782;840;840;841;835	ENSP00000363761:E840K;ENSP00000383053:E840K;ENSP00000363763:E841K;ENSP00000363758:E835K	ENSP00000363755:E782K	E	+	1	0	EPHB2	23109477	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	9.656000	0.98514	2.586000	0.87340	0.555000	0.69702	GAG	EPHB2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom		0.612	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	G	NM_017449		23236890	1	no_errors	ENST00000400191	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23236890	G	A	23236890	3	1	185	1	0	0	0	0	1	0	0	0	5187	1291	45	1	2575	1	EPHB2	1	23236890	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	262719	23236890	226013731	44	34319										
RPL11	6135	genome.wustl.edu	37	chr1	24022845	24022845	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctctttcagtatgatgggatCatccttcctggcaaataaat	7	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:24022845C>T	ENST00000374550.3	+	6	564	c.519C>T	c.(517-519)atC>atT	p.I173I	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	173					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.I173I(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		ATGATGGGATCATCCTTCCTG	0.373																																																	1	Substitution - coding silent(1)	large_intestine(1)											91	89	90					1																	24022845		2203	4300	6503	SO:0001819	synonymous_variant	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.519C>T	1.37:g.24022845C>T			P25121|P39026|Q8TDH2|Q9Y674	Silent	SNP	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	p.I173	ENST00000374550.3	37	c.519	CCDS238.1	1																																																																																			RPL11	-	superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5		0.373	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL11	HGNC	protein_coding	OTTHUMT00000008168.1	C	NM_000975		24022845	1	no_errors	ENST00000374550	ensembl	human	known	70_37	silent	SNP	1.000	T	T	24022845	C	T	24022845	2	4	185	1	0	0	0	0	0	0	0	1	13587	816	29	1		1	RPL11	1	24022845	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	785955	24022845	225227776	45	34320										
ARID1A	8289	genome.wustl.edu	37	chr1	27099314	27099314	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actctggagcaggagcaattCagttgggatccaggatgcct	13	9	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:27099314C>T	ENST00000324856.7	+	14	3922	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L	ARID1A_ENST00000374152.2_Missense_Mutation_p.S801L|ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1184L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1184					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGGAGCAATTCAGTTGGGATC	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													79	73	75					1																	27099314		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3551C>T	1.37:g.27099314C>T	ENSP00000320485:p.Ser1184Leu		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1184L	ENST00000324856.7	37	c.3551	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668485	0.47677	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02837	4.4;4.14;4.22	5.24	5.24	0.73138	.	0.109682	0.64402	D	0.000008	T	0.13030	0.0316	L	0.55481	1.735	0.80722	D	1	D;D;P;P	0.67145	0.996;0.993;0.655;0.524	D;D;B;B	0.77557	0.99;0.977;0.194;0.095	T	0.00237	-1.1890	10	0.59425	D	0.04	-8.7348	19.0042	0.92843	0.0:1.0:0.0:0.0	.	801;1184;1184;837	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	L	1184;1184;801	ENSP00000320485:S1184L;ENSP00000387636:S1184L;ENSP00000363267:S801L	ENSP00000320485:S1184L	S	+	2	0	ARID1A	26971901	0.997000	0.39634	0.992000	0.48379	0.948000	0.59901	3.923000	0.56469	2.733000	0.93635	0.655000	0.94253	TCA	ARID1A	-	NULL		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27099314	1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	0.998	T	T	27099314	C	T	27099314	3	4	185	1	0	0	0	0	1	0	0	0	913	838	29	1	3605	1	ARID1A	1	27099314	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3076469	27099314	222151307	46	34321										
NUDC	10726	genome.wustl.edu	37	chr1	27267965	27267965	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagcttatcacacagactttCagccaccacaatcagctggc	6	15	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:27267965C>T	ENST00000321265.5	+	3	300	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	59					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CACAGACTTTCAGCCACCACA	0.642																																																	0													32	35	34					1																	27267965		2203	4300	6503	SO:0001819	synonymous_variant	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"nuclear distribution gene C homolog (A. nidulans)", "nuclear distribution C homolog (A. nidulans)"				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.177C>T	1.37:g.27267965C>T			Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Silent	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.F59	ENST00000321265.5	37	c.177	CCDS292.1	1																																																																																			NUDC	-	NULL		0.642	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	C			27267965	1	no_errors	ENST00000321265	ensembl	human	known	70_37	silent	SNP	0.999	T	T	27267965	C	T	27267965	2	4	185	1	0	0	0	0	0	0	0	1	10745	825	29	1		1	NUDC	1	27267965	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	168651	27267965	221982656	47	34322										
FGR	2268	genome.wustl.edu	37	chr1	27941981	27941981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtcacgatgtagatgggctCctccgacaccacggcgtaca	12	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:27941981C>T	ENST00000374005.3	-	9	1270	c.982G>A	c.(982-984)Gag>Aag	p.E328K	FGR_ENST00000374004.1_Missense_Mutation_p.E328K|FGR_ENST00000399173.1_Missense_Mutation_p.E328K|FGR_ENST00000545953.1_Missense_Mutation_p.E262K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TAGATGGGCTCCTCCGACACC	0.632																																																	0													84	78	80					1																	27941981		2203	4300	6503	SO:0001583	missense	2268			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.982G>A	1.37:g.27941981C>T	ENSP00000363117:p.Glu328Lys		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E328K	ENST00000374005.3	37	c.982	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.081245	0.94050	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.13	5.13	0.70059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000022	T	0.13884	0.0336	N	0.25485	0.75	0.51482	D	0.999929	P	0.44816	0.844	P	0.46975	0.533	T	0.01520	-1.1334	10	0.87932	D	0	.	17.5377	0.87837	0.0:1.0:0.0:0.0	.	328	P09769	FGR_HUMAN	K	328;262;328;328;328	ENSP00000363117:E328K;ENSP00000445302:E262K;ENSP00000382126:E328K;ENSP00000363116:E328K;ENSP00000363115:E328K	ENSP00000363115:E328K	E	-	1	0	FGR	27814568	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.715000	0.84713	2.557000	0.86248	0.491000	0.48974	GAG	FGR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.632	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	HGNC	protein_coding	OTTHUMT00000009772.1	C	NM_005248		27941981	-1	no_errors	ENST00000374003	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27941981	C	T	27941981	3	4	185	1	0	0	0	0	1	0	0	0	5892	864	30	1	627	1	FGR	1	27941981	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	674016	27941981	221308640	48	34323										
PPP1R8	5511	genome.wustl.edu	37	chr1	28165230	28165230	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaactgattattgatgagaaGaagtattacttatttgggag	10	2	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:28165230G>C	ENST00000311772.5	+	3	196	c.138G>C	c.(136-138)aaG>aaC	p.K46N	PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	46	Interaction with CDC5L, SF3B1 and MELK.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TTGATGAGAAGAAGTATTACT	0.343																																																	0													61	54	57					1																	28165230		2203	4300	6503	SO:0001583	missense	5511			AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9296	protein-coding gene	gene with protein product	"RNase E", "nuclear subunit of PP-1", "nuclear inhibitor of protein phosphatase-1", "activator of RNA decay", "protein phosphatase 1 regulatory subunit 8"	602636	"protein phosphatase 1, regulatory (inhibitor) subunit 8"			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.138G>C	1.37:g.28165230G>C	ENSP00000311677:p.Lys46Asn		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.K46N	ENST00000311772.5	37	c.138	CCDS311.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233480	0.79688	.	.	ENSG00000117751	ENST00000311772;ENST00000434313	T	0.36157	1.27	6.17	5.25	0.73442	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.66376	-0.5939	10	0.72032	D	0.01	-20.0105	12.926	0.58260	0.1314:0.0:0.8686:0.0	.	46	Q12972	PP1R8_HUMAN	N	46	ENSP00000311677:K46N	ENSP00000311677:K46N	K	+	3	2	PPP1R8	28037817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.178000	0.71968	1.596000	0.50062	0.655000	0.94253	AAG	PPP1R8	-	superfamily_SMAD_FHA_domain		0.343	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R8	HGNC	protein_coding	OTTHUMT00000010528.1	G	NM_014110		28165230	1	no_errors	ENST00000311772	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28165230	G	C	28165230	3	2	185	1	0	0	0	0	1	0	0	0	12404	933	33	1	148	1	PPP1R8	1	28165230	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	223249	28165230	221085391	49	34324										
FABP3	2170	genome.wustl.edu	37	chr1	31840308	31840308	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccgtcccatttctgcaggtGaacaagtttccctccatcca	6	16	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:31840308G>A	ENST00000373713.2	-	3	341	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	94					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		TTCTGCAGGTGAACAAGTTTC	0.507																																																	0													212	192	199					1																	31840308		2203	4300	6503	SO:0001583	missense	2170			U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"Fatty acid binding protein family"	3557	protein-coding gene	gene with protein product		134651	"fatty acid binding protein 11"	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.280C>T	1.37:g.31840308G>A	ENSP00000362817:p.His94Tyr		B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.H94Y	ENST00000373713.2	37	c.280	CCDS342.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175209	0.57692	.	.	ENSG00000121769	ENST00000373713	T	0.08720	3.06	5.06	5.06	0.68205	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.048412	0.85682	D	0.000000	T	0.20292	0.0488	M	0.70275	2.135	0.80722	D	1	B	0.25667	0.131	B	0.39503	0.301	T	0.03034	-1.1080	10	0.72032	D	0.01	.	18.5693	0.91129	0.0:0.0:1.0:0.0	.	94	P05413	FABPH_HUMAN	Y	94	ENSP00000362817:H94Y	ENSP00000362817:H94Y	H	-	1	0	FABP3	31612895	1.000000	0.71417	0.925000	0.36789	0.350000	0.29205	9.633000	0.98432	2.782000	0.95742	0.655000	0.94253	CAC	FABP3	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.507	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP3	HGNC	protein_coding	OTTHUMT00000010683.1	G	NM_004102		31840308	-1	no_errors	ENST00000373713	ensembl	human	known	70_37	missense	SNP	1.000	A	A	31840308	G	A	31840308	3	1	185	1	0	0	0	0	1	0	0	0	5373	1290	45	1	129	1	FABP3	1	31840308	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3675078	31840308	217410313	50	34325										
EIF2C3	192669	genome.wustl.edu	37	chr1	36470034	36470034	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgatgagcaaccaagacctCtgactgattctcatcgggta	9	10	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:36470034C>G	ENST00000373191.4	+	6	1100	c.751C>G	c.(751-753)Ctg>Gtg	p.L251V	RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.L17V	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	251	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										ACCAAGACCTCTGACTGATTC	0.348																																																	0													117	110	112					1																	36470034		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.751C>G	1.37:g.36470034C>G	ENSP00000362287:p.Leu251Val		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L251V	ENST00000373191.4	37	c.751	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456068	0.63401	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.14893	2.47;2.47	5.56	5.56	0.83823	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.90252	3.1	0.80722	D	1	B	0.15473	0.013	B	0.37422	0.249	T	0.45963	-0.9225	10	0.72032	D	0.01	-7.7848	19.5162	0.95167	0.0:1.0:0.0:0.0	.	251	Q9H9G7	AGO3_HUMAN	V	251;17	ENSP00000362287:L251V;ENSP00000246314:L17V	ENSP00000246314:L17V	L	+	1	2	EIF2C3	36242621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.623000	0.88846	0.460000	0.39030	CTG	EIF2C3	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ		0.348	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	C	NM_024852		36470034	1	no_errors	ENST00000373191	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36470034	C	G	36470034	3	3	185	1	0	0	0	0	1	0	0	0	5017	912	32	1	773	1	EIF2C3	1	36470034	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4629726	36470034	212780587	51	34326										
EIF2C3	192669	genome.wustl.edu	37	chr1	36479634	36479634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgccacacagaggcagtgcaGagaagaaatattgaagtaag	12	6	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:36479634G>C	ENST00000373191.4	+	11	1740	c.1391G>C	c.(1390-1392)aGa>aCa	p.R464T	RP4-665N4.8_ENST00000466576.2_RNA|RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.R230T	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	464					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AGGCAGTGCAGAGAAGAAATA	0.413																																																	0													160	154	156					1																	36479634		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1391G>C	1.37:g.36479634G>C	ENSP00000362287:p.Arg464Thr		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R464T	ENST00000373191.4	37	c.1391	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410936	0.42817	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05580	3.42;3.42	5.65	5.65	0.86999	.	0.047937	0.85682	D	0.000000	T	0.07503	0.0189	L	0.31845	0.965	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38866	-0.9641	10	0.21540	T	0.41	-2.0877	19.7916	0.96461	0.0:0.0:1.0:0.0	.	464	Q9H9G7	AGO3_HUMAN	T	464;230	ENSP00000362287:R464T;ENSP00000246314:R230T	ENSP00000246314:R230T	R	+	2	0	EIF2C3	36252221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.858000	0.99539	2.685000	0.91497	0.650000	0.86243	AGA	EIF2C3	-	NULL		0.413	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	G	NM_024852		36479634	1	no_errors	ENST00000373191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36479634	G	C	36479634	3	2	185	1	0	0	0	0	1	0	0	0	5017	942	33	1	1433	1	EIF2C3	1	36479634	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9600	36479634	212770987	52	34327										
C1orf113	79729	genome.wustl.edu	37	chr1	36785319	36785319	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaggccccctctgtgaagaGaacccccatgccggacaaga	10	14	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:36785319G>A	ENST00000426732.2	+	13	992	c.707G>A	c.(706-708)aGa>aAa	p.R236K	SH3D21_ENST00000453908.2_Missense_Mutation_p.R352K|SH3D21_ENST00000312808.4_5'UTR|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000505871.1_Missense_Mutation_p.R241K			A4FU49	SH321_HUMAN	SH3 domain containing 21	236						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						TCTGTGAAGAGAACCCCCATG	0.627																																																	0													29	41	37					1																	36785319		2195	4296	6491	SO:0001583	missense	79729			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.707G>A	1.37:g.36785319G>A	ENSP00000408613:p.Arg236Lys		B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.R352K	ENST00000426732.2	37	c.1055		1	.	.	.	.	.	.	.	.	.	.	G	0.660	-0.806211	0.02819	.	.	ENSG00000214193	ENST00000373139;ENST00000453908;ENST00000426732;ENST00000505871	T;T;T;T	0.33654	1.4;1.51;1.94;1.94	3.65	1.17	0.20885	.	.	.	.	.	T	0.12092	0.0294	N	0.03324	-0.35	0.19300	N	0.999976	B;B	0.12630	0.006;0.002	B;B	0.08055	0.003;0.001	T	0.33471	-0.9867	9	0.02654	T	1	.	5.8555	0.18716	0.5931:0.0:0.4069:0.0	.	241;236	A4FU49-3;A4FU49	.;SH321_HUMAN	K	352;352;236;241	ENSP00000362232:R352K;ENSP00000403476:R352K;ENSP00000408613:R236K;ENSP00000421294:R241K	ENSP00000362232:R352K	R	+	2	0	SH3D21	36557906	0.345000	0.24835	0.002000	0.10522	0.030000	0.12068	2.613000	0.46351	0.228000	0.21019	0.563000	0.77884	AGA	SH3D21	-	NULL		0.627	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		G	NM_024676		36785319	1	no_errors	ENST00000453908	ensembl	human	known	70_37	missense	SNP	0.002	A	A	36785319	G	A	36785319	3	1	185	1	0	0	0	0	1	0	0	0	1991	942	33	1	1109	1	C1orf113	1	36785319	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	305685	36785319	212465302	53	34328										
STK40	83931	genome.wustl.edu	37	chr1	36809771	36809771	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgcggaagagctcctgcggGatgctgtcgtagaaggggaa	17	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:36809771G>A	ENST00000373129.3	-	9	1240	c.834C>T	c.(832-834)atC>atT	p.I278I	STK40_ENST00000373132.3_Silent_p.I278I|STK40_ENST00000373130.3_Silent_p.I283I|STK40_ENST00000359297.2_Silent_p.I278I	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GCTCCTGCGGGATGCTGTCGT	0.642																																																	0													92	76	82					1																	36809771		2203	4300	6503	SO:0001819	synonymous_variant	83931			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.834C>T	1.37:g.36809771G>A			D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I283	ENST00000373129.3	37	c.849	CCDS407.1	1																																																																																			STK40	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.642	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STK40	HGNC	protein_coding	OTTHUMT00000022592.1	G	NM_032017		36809771	-1	no_errors	ENST00000373130	ensembl	human	known	70_37	silent	SNP	1.000	A	A	36809771	G	A	36809771	2	1	185	1	0	0	0	0	0	0	0	1	15337	1164	41	1		1	STK40	1	36809771	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	24452	36809771	212440850	54	34329										
GNL2	29889	genome.wustl.edu	37	chr1	38041233	38041233	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtctgtctcggagtcctcaGaggggtaaaccacacctgga	12	11	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:38041233G>C	ENST00000373062.3	-	10	1204	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	369					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GGAGTCCTCAGAGGGGTAAAC	0.473																																																	0													113	109	111					1																	38041233		2203	4300	6503	SO:0001583	missense	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1106C>G	1.37:g.38041233G>C	ENSP00000362153:p.Ser369Cys		Q9BWN7	Missense_Mutation	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain	p.S369C	ENST00000373062.3	37	c.1106	CCDS421.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.018198|5.018198	0.93404|0.93404	.|.	.|.	ENSG00000134697|ENSG00000134697	ENST00000538069|ENST00000373062	.|T	.|0.15487	.|2.42	5.73|5.73	5.73|5.73	0.89815|0.89815	.|GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58807|0.58807	0.2148|0.2148	H|H	0.95850|0.95850	3.73|3.73	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	T|T	0.72290|0.72290	-0.4337|-0.4337	5|10	.|0.87932	.|D	.|0	-14.6952|-14.6952	19.888|19.888	0.96917|0.96917	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|369	.|Q13823	.|NOG2_HUMAN	V|C	221|369	.|ENSP00000362153:S369C	.|ENSP00000362153:S369C	L|S	-|-	1|2	2|0	GNL2|GNL2	37813820|37813820	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.994000|0.994000	0.84299|0.84299	9.824000|9.824000	0.99380|0.99380	2.720000|2.720000	0.93068|0.93068	0.591000|0.591000	0.81541|0.81541	CTG|TCT	GNL2	-	pfam_GTP_binding_domain,prints_GTP_binding_domain		0.473	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	G	NM_013285		38041233	-1	no_errors	ENST00000373062	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38041233	G	C	38041233	3	2	185	1	0	0	0	0	1	0	0	0	6555	942	33	1	1117	1	GNL2	1	38041233	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1231462	38041233	211209388	55	34330										
MACF1	23499	genome.wustl.edu	37	chr1	39815296	39815296	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagaagaaccaaagtgacttGaaggtcagtgtgaatctgtc	11	7	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:39815296G>C	ENST00000372915.3	+	41	11064	c.10977G>C	c.(10975-10977)ttG>ttC	p.L3659F	MACF1_ENST00000564288.1_Missense_Mutation_p.L3654F|MACF1_ENST00000545844.1_Missense_Mutation_p.L1592F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.L1592F|MACF1_ENST00000361689.2_Missense_Mutation_p.L1592F|MACF1_ENST00000539005.1_Missense_Mutation_p.L1592F|MACF1_ENST00000567887.1_Missense_Mutation_p.L3691F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2094F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3659					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTGACTTGAAGGTCAGTG	0.502																																																	0													87	91	89					1																	39815296		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10977G>C	1.37:g.39815296G>C	ENSP00000362006:p.Leu3659Phe		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L1592F	ENST00000372915.3	37	c.4776		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.59|11.59	1.685281|1.685281	0.29872|0.29872	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	.|T;T;T;T;T;T;T	.|0.63096	.|1.25;-0.02;1.25;1.25;1.25;1.25;1.06	5.77|5.77	0.513|0.513	0.17000|0.17000	.|.	.|0.317472	.|0.22619	.|N	.|0.057721	T|T	0.47691|0.47691	0.1459|0.1459	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.16166	.|0.005;0.016;0.011;0.002	.|B;B;B;B	.|0.22880	.|0.009;0.042;0.02;0.008	T|T	0.29852|0.29852	-0.9998|-0.9998	5|10	.|0.40728	.|T	.|0.16	.|.	2.1116|2.1116	0.03704|0.03704	0.2618:0.2037:0.4276:0.1069|0.2618:0.2037:0.4276:0.1069	.|.	.|3659;1592;1592;1557	.|Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|MACF1_HUMAN;.;.;.	Q|F	726|1592;3659;1592;1592;1592;1741;2094	.|ENSP00000439537:L1592F;ENSP00000362006:L3659F;ENSP00000354573:L1592F;ENSP00000313438:L1592F;ENSP00000444364:L1592F;ENSP00000437059:L1741F;ENSP00000289893:L2094F	.|ENSP00000289893:L2094F	E|L	+|+	1|3	0|2	MACF1|MACF1	39587883|39587883	0.761000|0.761000	0.28439|0.28439	0.998000|0.998000	0.56505|0.56505	0.956000|0.956000	0.61745|0.61745	-0.467000|-0.467000	0.06664|0.06664	0.094000|0.094000	0.17404|0.17404	-0.225000|-0.225000	0.12378|0.12378	GAA|TTG	MACF1	-	smart_Spectrin/alpha-actinin		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39815296	1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	0.971	C	C	39815296	G	C	39815296	3	2	185	1	0	0	0	0	1	0	0	0	9167	1281	45	1	11073	1	MACF1	1	39815296	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1774063	39815296	209435325	56	34331										
KIAA0754	643314	genome.wustl.edu	37	chr1	39877313	39877313	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tattgatgcagaacagctctCtgacacagactcagtgcaga	9	10	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:39877313C>G	ENST00000530275.1	+	1	1163	c.968C>G	c.(967-969)tCt>tGt	p.S323C	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	323										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACAGCTCTCTGACACAGAC	0.433											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													154	149	150					1																	39877313		1933	4153	6086	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.968C>G	1.37:g.39877313C>G	ENSP00000431179:p.Ser323Cys	889	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.S323C	ENST00000530275.1	37	c.968		1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277397	0.80580	.	.	ENSG00000255103	ENST00000530275	D	0.86562	-2.14	5.14	5.14	0.70334	.	.	.	.	.	D	0.90068	0.6898	L	0.27053	0.805	0.31063	N	0.713884	D	0.89917	1.0	D	0.91635	0.999	D	0.89360	0.3667	9	0.87932	D	0	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	323	O94854	K0754_HUMAN	C	323	ENSP00000431179:S323C	ENSP00000431179:S323C	S	+	2	0	RP4-562N20.1	39649900	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.069000	0.71209	2.398000	0.81561	0.655000	0.94253	TCT	KIAA0754	-	NULL		0.433	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	C	NM_015038		39877313	1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39877313	C	G	39877313	3	3	185	1	0	0	0	0	1	0	0	0	8212	913	32	1	1378	1	KIAA0754	1	39877313	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	62017	39877313	209373308	57	34332										
MFSD2A	84879	genome.wustl.edu	37	chr1	40431611	40431611	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caagcagacacgccttgtttCcaggacctcaatagctctac	7	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:40431611C>T	ENST00000372809.5	+	6	821	c.678C>T	c.(676-678)ttC>ttT	p.F226F	MFSD2A_ENST00000420632.2_Silent_p.F57F|MFSD2A_ENST00000372811.5_Silent_p.F213F|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	226					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGCCTTGTTTCCAGGACCTCA	0.577																																																	0													126	100	109					1																	40431611		2203	4300	6503	SO:0001819	synonymous_variant	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.678C>T	1.37:g.40431611C>T			A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.F226	ENST00000372809.5	37	c.678	CCDS44118.1	1																																																																																			MFSD2A	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.577	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	MFSD2A	HGNC	protein_coding	OTTHUMT00000025756.1	C	NM_032793		40431611	1	no_errors	ENST00000372809	ensembl	human	known	70_37	silent	SNP	0.026	T	T	40431611	C	T	40431611	2	4	185	1	0	0	0	0	0	0	0	1	9553	854	30	1		1	MFSD2A	1	40431611	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	554298	40431611	208819010	58	34333										
RIMKLA	284716	genome.wustl.edu	37	chr1	42865153	42865153	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acccacaccctcagtgcagtCagacagtgacatcactgtcc	7	16	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:42865153C>T	ENST00000431473.3	+	2	371	c.242C>T	c.(241-243)tCa>tTa	p.S81L		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	81					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCAGTGCAGTCAGACAGTGAC	0.542																																																	0													60	50	53					1																	42865153		2203	4300	6503	SO:0001583	missense	284716			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.242C>T	1.37:g.42865153C>T	ENSP00000414330:p.Ser81Leu		Q5VUS5	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.S81L	ENST00000431473.3	37	c.242	CCDS466.2	1	.	.	.	.	.	.	.	.	.	.	C	7.943	0.743229	0.15642	.	.	ENSG00000177181	ENST00000431473	.	.	.	4.82	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.48642	1.525	0.45634	D	0.998564	P	0.51653	0.947	P	0.48400	0.576	T	0.49560	-0.8927	9	0.87932	D	0	-21.7442	8.1598	0.31192	0.0:0.752:0.1598:0.0883	.	81	Q8IXN7	RIMKA_HUMAN	L	81	.	ENSP00000414330:S81L	S	+	2	0	RIMKLA	42637740	1.000000	0.71417	0.049000	0.19019	0.006000	0.05464	6.100000	0.71473	0.639000	0.30564	-0.859000	0.03014	TCA	RIMKLA	-	tigrfam_RpS6_RimK/Lys_biosynth_LsyX		0.542	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLA	HGNC	protein_coding	OTTHUMT00000019174.3	C	NM_173642		42865153	1	no_errors	ENST00000431473	ensembl	human	known	70_37	missense	SNP	0.988	T	T	42865153	C	T	42865153	3	4	185	1	0	0	0	0	1	0	0	0	13395	838	29	1	248	1	RIMKLA	1	42865153	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2433542	42865153	206385468	59	34334										
LEPRE1	64175	genome.wustl.edu	37	chr1	43217983	43217983	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtgacaccatagaacttttCattgggagtatgtggggagg	14	5	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:43217983C>T	ENST00000296388.5	-	10	1582	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	LEPRE1_ENST00000236040.4_Missense_Mutation_p.E511K|LEPRE1_ENST00000397054.3_Missense_Mutation_p.E511K			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	511					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGAACTTTTCATTGGGAGTA	0.537																																																	0													110	98	102					1																	43217983		2203	4300	6503	SO:0001583	missense	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1531G>A	1.37:g.43217983C>T	ENSP00000296388:p.Glu511Lys		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E511K	ENST00000296388.5	37	c.1531	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	c	33	5.249941	0.95305	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.50001	0.79;0.76;0.98	4.96	4.96	0.65561	Prolyl 4-hydroxylase, alpha subunit (1);	0.151155	0.64402	D	0.000018	T	0.65852	0.2731	M	0.84948	2.725	0.52099	D	0.999947	D;P;P	0.53745	0.962;0.9;0.952	P;B;P	0.54060	0.741;0.435;0.606	T	0.73026	-0.4112	10	0.87932	D	0	-22.1034	15.7411	0.77899	0.0:1.0:0.0:0.0	.	511;376;511	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	K	511;511;511;376	ENSP00000380245:E511K;ENSP00000236040:E511K;ENSP00000296388:E511K	ENSP00000236040:E511K	E	-	1	0	LEPRE1	42990570	1.000000	0.71417	0.351000	0.25721	0.957000	0.61999	7.317000	0.79018	2.595000	0.87683	0.457000	0.33378	GAA	LEPRE1	-	smart_Pro_4_hyd_alph		0.537	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	C	NM_022356		43217983	-1	no_errors	ENST00000236040	ensembl	human	known	70_37	missense	SNP	0.995	T	T	43217983	C	T	43217983	3	4	185	1	0	0	0	0	1	0	0	0	8749	835	29	1	722	1	LEPRE1	1	43217983	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	352830	43217983	206032638	60	34335										
PTPRF	5792	genome.wustl.edu	37	chr1	44071938	44071938	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagccatcgagcaaggcggaGaggagcagcggcggcggcgg	20	10	0	1	rs540407495		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:44071938G>C	ENST00000359947.4	+	20	3851	c.3511G>C	c.(3511-3513)Gag>Cag	p.E1171Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.E519Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1171Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1162Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1162Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1171					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAAGGCGGAGAGGAGCAGCG	0.637																																																	0													40	49	46					1																	44071938		2200	4289	6489	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3511G>C	1.37:g.44071938G>C	ENSP00000353030:p.Glu1171Gln		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.E1171Q	ENST00000359947.4	37	c.3511	CCDS489.2	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	3.592|3.592|3.592	-0.083477|-0.083477|-0.083477	0.07141|0.07141|0.07141	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	.|T;T;T;T;T;T|.	.|0.55760|.	.|0.5;0.52;0.5;0.52;2.44;4.13|.	5.2|5.2|5.2	3.03|3.03|3.03	0.35002|0.35002|0.35002	.|.|.	1.482320|1.482320|.	0.04891|0.04891|.	N|N|.	0.449556|0.449556|.	T|T|T	0.18173|0.18173|0.18173	0.0436|0.0436|0.0436	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B;B|.	.|0.18310|.	.|0.003;0.004;0.006;0.027;0.0|.	.|B;B;B;B;B|.	.|0.17722|.	.|0.006;0.003;0.01;0.019;0.001|.	T|T|T	0.20306|0.20306|0.20306	-1.0279|-1.0279|-1.0279	6|10|5	.|0.20519|.	.|T|.	.|0.43|.	.|.|.	7.6262|7.6262|7.6262	0.28214|0.28214|0.28214	0.1109:0.3915:0.4977:0.0|0.1109:0.3915:0.4977:0.0|0.1109:0.3915:0.4977:0.0	.|.|.	.|816;519;737;1162;1171|.	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.|.;.;.;.;PTPRF_HUMAN|.	D|Q|T	816|1171;1162;1171;1162;519;232|543;584	.|ENSP00000353030:E1171Q;ENSP00000398822:E1162Q;ENSP00000361491:E1171Q;ENSP00000361490:E1162Q;ENSP00000387885:E519Q;ENSP00000361484:E232Q|.	.|ENSP00000353030:E1171Q|.	E|E|R	+|+|+	3|1|2	2|0|0	PTPRF|PTPRF|PTPRF	43844525|43844525|43844525	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.015000|0.015000|0.015000	0.08874|0.08874|0.08874	0.303000|0.303000|0.303000	0.19210|0.19210|0.19210	1.245000|1.245000|1.245000	0.43885|0.43885|0.43885	-0.367000|-0.367000|-0.367000	0.07326|0.07326|0.07326	GAG|GAG|AGA	PTPRF	-	NULL		0.637	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44071938	1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	0.006	C	C	44071938	G	C	44071938	3	2	185	1	0	0	0	0	1	0	0	0	12831	943	33	1	3581	1	PTPRF	1	44071938	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	853955	44071938	205178683	61	34336										
ATP6V0B	533	genome.wustl.edu	37	chr1	44442474	44442474	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccacagaccccaaggccatCggccatcggaactaccatgc	9	17	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:44442474C>T	ENST00000472174.2	+	6	771	c.378C>T	c.(376-378)atC>atT	p.I126I	ATP6V0B_ENST00000498664.1_Silent_p.I79I|ATP6V0B_ENST00000532642.1_Silent_p.I126I|B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000236067.4_Silent_p.I79I|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000471859.2_Silent_p.I173I|B4GALT2_ENST00000434555.2_5'Flank	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	126					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCAAGGCCATCGGCCATCGGA	0.527																																																	0													69	65	66					1																	44442474		2203	4300	6503	SO:0001819	synonymous_variant	533			BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"ATPases / V-type"	861	protein-coding gene	gene with protein product		603717	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD", "ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.378C>T	1.37:g.44442474C>T			D3DPY5|Q6IB32	Silent	SNP	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_V0-cplx_csu	p.I126	ENST00000472174.2	37	c.378	CCDS505.1	1																																																																																			ATP6V0B	-	NULL		0.527	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0B	HGNC	protein_coding	OTTHUMT00000022854.2	C	NM_004047		44442474	1	no_errors	ENST00000472174	ensembl	human	known	70_37	silent	SNP	0.999	T	T	44442474	C	T	44442474	2	4	185	1	0	0	0	0	0	0	0	1	1172	874	31	1		1	ATP6V0B	1	44442474	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	370536	44442474	204808147	62	34337										
CCDC17	149483	genome.wustl.edu	37	chr1	46086415	46086415	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cggaggtgggtactggtactCatggacacttgctggattga	15	7	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:46086415C>A	ENST00000528266.1	-	12	1837	c.1690G>T	c.(1690-1692)Gag>Tag	p.E564*	CCDC17_ENST00000343901.2_Nonsense_Mutation_p.E532*|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000421127.2_Nonsense_Mutation_p.E555*			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	564										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TACTGGTACTCATGGACACTT	0.572																																																	0													88	69	76					1																	46086415		2203	4299	6502	SO:0001587	stop_gained	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1690G>T	1.37:g.46086415C>A	ENSP00000432172:p.Glu564*		A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Nonsense_Mutation	SNP	NULL	p.E532*	ENST00000528266.1	37	c.1594	CCDS44131.2	1	.	.	.	.	.	.	.	.	.	.	C	36	5.635423	0.96682	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	.	.	.	5.92	4.99	0.66335	.	0.450890	0.22343	N	0.061315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-19.701	14.4033	0.67065	0.0:0.5975:0.4025:0.0	.	.	.	.	X	555;532;564	.	ENSP00000341451:E532X	E	-	1	0	CCDC17	45859002	0.061000	0.20836	0.788000	0.31933	0.783000	0.44284	0.848000	0.27710	1.469000	0.48083	0.655000	0.94253	GAG	CCDC17	-	NULL		0.572	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC17	HGNC	protein_coding	OTTHUMT00000386833.1	C	NM_152500		46086415	-1	no_errors	ENST00000343901	ensembl	human	known	70_37	nonsense	SNP	0.700	A	A	46086415	C	A	46086415	4	1	185	1	0	0	0	0	0	1	0	0	2798	835	29	3	186	3	CCDC17	1	46086415	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1643941	46086415	203164206	63	34338										
MAST2	23139	genome.wustl.edu	37	chr1	46425105	46425105	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gattgtgacctctagcacatCacctacactaccacggccac	6	16	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:46425105C>T	ENST00000361297.2	+	5	831	c.548C>T	c.(547-549)tCa>tTa	p.S183L	MAST2_ENST00000372009.2_Missense_Mutation_p.S183L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TCTAGCACATCACCTACACTA	0.478																																																	0													78	78	78					1																	46425105		2033	4200	6233	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.548C>T	1.37:g.46425105C>T	ENSP00000354671:p.Ser183Leu			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S183L	ENST00000361297.2	37	c.548	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.266332	0.95399	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625;ENST00000372008	T;T;T	0.74632	-0.81;-0.86;-0.45	5.1	5.1	0.69264	.	0.146359	0.46442	D	0.000288	D	0.84297	0.5441	L	0.58510	1.815	0.45867	D	0.998721	D;D;D;D	0.89917	0.981;0.967;0.999;1.0	D;P;D;D	0.87578	0.943;0.879;0.991;0.998	D	0.85517	0.1201	10	0.66056	D	0.02	-11.6519	17.6417	0.88138	0.0:1.0:0.0:0.0	.	183;40;183;183	Q6P0Q8-2;E9PBM6;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	L	183;183;40;68	ENSP00000354671:S183L;ENSP00000361079:S183L;ENSP00000361078:S68L	ENSP00000354671:S183L	S	+	2	0	MAST2	46197692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.660000	0.74417	2.523000	0.85059	0.563000	0.77884	TCA	MAST2	-	NULL		0.478	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	C	NM_015112		46425105	1	no_errors	ENST00000361297	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46425105	C	T	46425105	3	4	185	1	0	0	0	0	1	0	0	0	9348	838	29	1	566	1	MAST2	1	46425105	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	338690	46425105	202825516	64	34339										
RAD54L	8438	genome.wustl.edu	37	chr1	46726987	46726987	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctcccatcctcatcatttCctatgagaccttccgccttc	3	17	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:46726987C>G	ENST00000371975.4	+	8	1495	c.821C>G	c.(820-822)tCc>tGc	p.S274C	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.S274C	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	274	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCATCATTTCCTATGAGACC	0.468								Direct reversal of damage;Homologous recombination																																									0													122	104	110					1																	46726987		2203	4300	6503	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.821C>G	1.37:g.46726987C>G	ENSP00000361043:p.Ser274Cys		Q5TE31|Q6IUY3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S274C	ENST00000371975.4	37	c.821	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241431	0.58995	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.94576	-3.46;-3.46	5.56	4.64	0.57946	DEAD-like helicase (2);SNF2-related (1);	0.050782	0.85682	N	0.000000	D	0.98346	0.9451	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99839	1.1060	10	0.87932	D	0	-14.2002	16.7965	0.85603	0.0:0.8711:0.1289:0.0	.	94;274	G3V1N0;Q92698	.;RAD54_HUMAN	C	274;274;94	ENSP00000396113:S274C;ENSP00000361043:S274C	ENSP00000361043:S274C	S	+	2	0	RAD54L	46499574	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	6.082000	0.71318	1.480000	0.48289	-0.305000	0.09177	TCC	RAD54L	-	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.468	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	C	NM_003579		46726987	1	no_errors	ENST00000371975	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46726987	C	G	46726987	3	3	185	1	0	0	0	0	1	0	0	0	13023	855	30	1	851	1	RAD54L	1	46726987	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	301882	46726987	202523634	65	34340										
FOXD2	2306	genome.wustl.edu	37	chr1	47904257	47904257	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccaagaagcggctgacgttGagcgagatctgcgagttcat	13	10	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:47904257G>C	ENST00000334793.5	+	1	2569	c.450G>C	c.(448-450)ttG>ttC	p.L150F		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	150					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GGCTGACGTTGAGCGAGATCT	0.642																																																	0													45	53	50					1																	47904257		2203	4300	6503	SO:0001583	missense	2306			AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.450G>C	1.37:g.47904257G>C	ENSP00000335493:p.Leu150Phe		Q5SVZ3	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L150F	ENST00000334793.5	37	c.450	CCDS30708.1	1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064131	0.55432	.	.	ENSG00000186564	ENST00000334793	D	0.97529	-4.42	4.19	2.14	0.27477	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	U	0.000001	D	0.98848	0.9611	H	0.99011	4.4	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.97448	1.0026	10	0.87932	D	0	.	6.9614	0.24599	0.0999:0.3143:0.5858:0.0	.	150	O60548	FOXD2_HUMAN	F	150	ENSP00000335493:L150F	ENSP00000335493:L150F	L	+	3	2	FOXD2	47676844	0.995000	0.38212	1.000000	0.80357	0.887000	0.51463	0.245000	0.18142	0.735000	0.32537	-0.450000	0.05554	TTG	FOXD2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.642	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD2	HGNC	protein_coding	OTTHUMT00000021831.1	G	NM_004474		47904257	1	no_errors	ENST00000334793	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47904257	G	C	47904257	3	2	185	1	0	0	0	0	1	0	0	0	6015	1281	45	1	452	1	FOXD2	1	47904257	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1177270	47904257	201346364	66	34341										
OSBPL9	114883	genome.wustl.edu	37	chr1	52117690	52117690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acaaaatgatgagaggctctCgcagaggatgtgttagactc	12	7	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:52117690C>T	ENST00000428468.1	+	2	141	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	OSBPL9_ENST00000337809.4_Missense_Mutation_p.R65C|OSBPL9_ENST00000371710.3_Missense_Mutation_p.R65C|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R47C|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R47C|OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000453295.1_Intron			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	47	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GAGAGGCTCTCGCAGAGGATG	0.313																																																	0													91	84	86					1																	52117690		1805	4080	5885	SO:0001583	missense	114883			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.139C>T	1.37:g.52117690C>T	ENSP00000407168:p.Arg47Cys		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R65C	ENST00000428468.1	37	c.193	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294217	0.81025	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468	D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	L	0.33624	1.015	0.80722	D	1	D;D;D	0.89917	0.964;0.964;1.0	P;P;D	0.87578	0.636;0.682;0.998	D	0.89377	0.3679	10	0.87932	D	0	-11.2097	15.0019	0.71479	0.0:1.0:0.0:0.0	.	53;47;65	B1AKJ7;Q96SU4;B1AKJ6	.;OSBL9_HUMAN;.	C	47;65;65;47;47	ENSP00000360779:R47C;ENSP00000360775:R65C;ENSP00000337265:R65C;ENSP00000412733:R47C;ENSP00000407168:R47C	ENSP00000337265:R65C	R	+	1	0	OSBPL9	51890278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.142000	0.58044	2.597000	0.87782	0.460000	0.39030	CGC	OSBPL9	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.313	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	C			52117690	1	no_errors	ENST00000371710	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52117690	C	T	52117690	3	4	185	1	0	0	0	0	1	0	0	0	11308	884	31	1	145	1	OSBPL9	1	52117690	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4213433	52117690	197132931	67	34342										
NRD1	4898	genome.wustl.edu	37	chr1	52277771	52277771	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acatactcaactggatctgtCtgtaaagaggtaaattattt	7	6	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:52277771C>T	ENST00000354831.7	-	17	2068		c.e17-1		NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site|NRD1_ENST00000544028.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTGGATCTGTCTGTAAAGAGG	0.353																																																	0													108	97	101					1																	52277771		2203	4300	6503	SO:0001630	splice_region_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1879-1G>A	1.37:g.52277771C>T			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	-	e17-1	ENST00000354831.7	37	c.1879-1	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746329	0.89663	.	.	ENSG00000078618	ENST00000440943;ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52050359	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.416000	0.80143	2.835000	0.97688	0.650000	0.86243	.	NRD1	-	-		0.353	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	C	NM_002525	Intron	52277771	-1	no_errors	ENST00000354831	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	52277771	C	T	52277771	5	4	185	1	0	0	0	0	0	0	1	0	10669	927	32	1	1849	1	NRD1	1	52277771	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	160081	52277771	196972850	68	34343										
SLC1A7	6512	genome.wustl.edu	37	chr1	53580642	53580642	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agggaggcaagtccggacatCaagctgggagggcgaggggg	21	7	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:53580642C>G	ENST00000371494.4	-	3	346	c.219G>C	c.(217-219)ttG>ttC	p.L73F	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Missense_Mutation_p.L73F	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	73					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GTCCGGACATCAAGCTGGGAG	0.667																																					NSCLC(128;80 1811 21245 38490 51715)												0													52	45	47					1																	53580642		2203	4300	6503	SO:0001583	missense	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"Solute carriers"	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.219G>C	1.37:g.53580642C>G	ENSP00000360549:p.Leu73Phe		Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L73F	ENST00000371494.4	37	c.219	CCDS574.1	1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810432	0.70797	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.64991	-0.13;-0.13	5.58	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	H	0.97131	3.945	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.83275	0.992;0.996	D	0.86913	0.2062	10	0.87932	D	0	-1.6188	9.8977	0.41329	0.0:0.7428:0.0:0.2572	.	73;73	Q9BW45;O00341	.;EAA5_HUMAN	F	73	ENSP00000360549:L73F;ENSP00000360546:L73F	ENSP00000360546:L73F	L	-	3	2	SLC1A7	53353230	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.406000	0.44557	1.365000	0.46057	0.655000	0.94253	TTG	SLC1A7	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.667	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A7	HGNC	protein_coding	OTTHUMT00000024746.1	C	NM_006671		53580642	-1	no_errors	ENST00000371494	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53580642	C	G	53580642	3	3	185	1	0	0	0	0	1	0	0	0	14467	825	29	1	1499	1	SLC1A7	1	53580642	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1302871	53580642	195669979	69	34344										
TMEM48	55706	genome.wustl.edu	37	chr1	54262395	54262395	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctgaatccatgaataaatCacactgggttgtctcattgt	7	8	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:54262395C>G	ENST00000371429.3	-	13	2149	c.1551G>C	c.(1549-1551)gtG>gtC	p.V517V	NDC1_ENST00000537333.1_Silent_p.V182V|NDC1_ENST00000234725.8_Silent_p.V402V|NDC1_ENST00000540001.1_Intron	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	517					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										ATGAATAAATCACACTGGGTT	0.328																																																	0													110	103	105					1																	54262395		2203	4300	6503	SO:0001819	synonymous_variant	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1551G>C	1.37:g.54262395C>G			B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.V517	ENST00000371429.3	37	c.1551	CCDS583.1	1																																																																																			TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup		0.328	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	C	NM_018087		54262395	-1	no_errors	ENST00000371429	ensembl	human	known	70_37	silent	SNP	0.000	G	G	54262395	C	G	54262395	2	3	185	1	0	0	0	0	0	0	0	1	16202	813	29	1		1	TMEM48	1	54262395	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	681753	54262395	194988226	70	34345										
TMEM48	55706	genome.wustl.edu	37	chr1	54262801	54262801	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atctggctagattttggtgtCtgaaaagcagtttcttctgt	10	6	4	2	rs372529905		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:54262801C>T	ENST00000371429.3	-	12	1837	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	NDC1_ENST00000537333.1_Silent_p.Q78Q|NDC1_ENST00000234725.8_Silent_p.Q298Q|NDC1_ENST00000540001.1_Silent_p.Q413Q	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	413					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										ATTTTGGTGTCTGAAAAGCAG	0.428																																																	0													69	72	71					1																	54262801		2203	4300	6503	SO:0001819	synonymous_variant	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1239G>A	1.37:g.54262801C>T			B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.Q413	ENST00000371429.3	37	c.1239	CCDS583.1	1																																																																																			TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup		0.428	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	C	NM_018087		54262801	-1	no_errors	ENST00000371429	ensembl	human	known	70_37	silent	SNP	0.698	T	T	54262801	C	T	54262801	2	4	185	1	0	0	0	0	0	0	0	1	16202	912	32	1		1	TMEM48	1	54262801	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	406	54262801	194987820	71	34346										
TMEM48	55706	genome.wustl.edu	37	chr1	54269617	54269617	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atacctggttggctgaggctGaaaacttcttgtcttcgtga	11	8	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:54269617G>C	ENST00000371429.3	-	10	1648	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	NDC1_ENST00000537333.1_Missense_Mutation_p.F15L|NDC1_ENST00000234725.8_Missense_Mutation_p.F235L|NDC1_ENST00000540001.1_Missense_Mutation_p.F350L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	350					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										GGCTGAGGCTGAAAACTTCTT	0.393																																																	0													182	185	184					1																	54269617		2203	4300	6503	SO:0001583	missense	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1050C>G	1.37:g.54269617G>C	ENSP00000360483:p.Phe350Leu		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.F350L	ENST00000371429.3	37	c.1050	CCDS583.1	1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940973	0.73557	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000537333;ENST00000234725	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.64	0.661	0.17874	.	0.087690	0.85682	D	0.000000	T	0.73853	0.3640	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.72616	-0.4239	10	0.59425	D	0.04	.	11.3964	0.49845	0.5071:0.0:0.4929:0.0	.	310;350	B4DHA3;Q9BTX1	.;NDC1_HUMAN	L	350;350;350;15;235	ENSP00000360483:F350L;ENSP00000440873:F350L;ENSP00000439947:F15L;ENSP00000234725:F235L	ENSP00000234725:F235L	F	-	3	2	TMEM48	54042205	0.987000	0.35691	0.997000	0.53966	0.990000	0.78478	0.163000	0.16520	-0.099000	0.12263	-0.369000	0.07265	TTC	TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup		0.393	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	G	NM_018087		54269617	-1	no_errors	ENST00000371429	ensembl	human	known	70_37	missense	SNP	0.991	C	C	54269617	G	C	54269617	3	2	185	1	0	0	0	0	1	0	0	0	16202	1281	45	1	1010	1	TMEM48	1	54269617	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6816	54269617	194981004	72	34347										
USP24	23358	genome.wustl.edu	37	chr1	55680734	55680734	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcggatggtggcggggtctGagaagcccatgcacagcagc	17	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:55680734G>C	ENST00000294383.6	-	1	52	c.53C>G	c.(52-54)tCa>tGa	p.S18*	RP11-101C11.1_ENST00000451250.1_lincRNA|USP24_ENST00000407756.1_Nonsense_Mutation_p.S10*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	18	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGCGGGGTCTGAGAAGCCCAT	0.682																																																	0													21	28	26					1																	55680734		2145	4238	6383	SO:0001587	stop_gained	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.53C>G	1.37:g.55680734G>C	ENSP00000294383:p.Ser18*		Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.S18*	ENST00000294383.6	37	c.53	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	G	37	6.255507	0.97417	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	2.43	2.43	0.29744	.	0.246709	0.25961	U	0.027198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	12.7977	0.57567	0.0:0.0:1.0:0.0	.	.	.	.	X	18;10	.	ENSP00000294383:S18X	S	-	2	0	USP24	55453322	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	5.880000	0.69698	1.347000	0.45714	0.305000	0.20034	TCA	USP24	-	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk		0.682	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	G			55680734	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	55680734	G	C	55680734	4	2	185	1	0	0	0	0	0	1	0	0	17086	1294	45	1	8081	1	USP24	1	55680734	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1411117	55680734	193569887	73	34348										
C1orf168	199920	genome.wustl.edu	37	chr1	57185933	57185933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccaggacttattggcaaatCaaatattccatttcttgaat	5	8	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:57185933C>T	ENST00000343433.6	-	18	2124	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	682										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATTGGCAAATCAAATATTCCA	0.338																																																	0													73	70	71					1																	57185933		2203	4294	6497	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.2044G>A	1.37:g.57185933C>T	ENSP00000345972:p.Asp682Asn		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.D682N	ENST00000343433.6	37	c.2044	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079000	0.76528	.	.	ENSG00000187889	ENST00000343433	T	0.38401	1.14	4.85	3.93	0.45458	Src homology-3 domain (2);	0.105871	0.40385	N	0.001117	T	0.56156	0.1966	M	0.67953	2.075	0.40517	D	0.980792	D	0.76494	0.999	D	0.70016	0.967	T	0.61821	-0.6984	10	0.59425	D	0.04	-13.907	13.839	0.63426	0.1544:0.8456:0.0:0.0	.	682	Q5VWT5	CA168_HUMAN	N	682	ENSP00000345972:D682N	ENSP00000345972:D682N	D	-	1	0	C1orf168	56958521	0.949000	0.32298	0.914000	0.36105	0.876000	0.50452	1.985000	0.40668	1.381000	0.46364	0.655000	0.94253	GAT	C1orf168	-	superfamily_SH3_domain		0.338	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	C	NM_001004303		57185933	-1	no_errors	ENST00000343433	ensembl	human	known	70_37	missense	SNP	0.971	T	T	57185933	C	T	57185933	3	4	185	1	0	0	0	0	1	0	0	0	2017	826	29	1	154	1	C1orf168	1	57185933	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1505199	57185933	192064688	74	34349										
OMA1	115209	genome.wustl.edu	37	chr1	58946831	58946831	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggtggacaattacacatctCtctaattttgagagcctata	7	8	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:58946831C>T	ENST00000371226.3	-	9	1494	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	461					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTACACATCTCTCTAATTTTG	0.313																																																	0													74	70	71					1																	58946831		2203	4300	6503	SO:0001583	missense	115209			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1381G>A	1.37:g.58946831C>T	ENSP00000360270:p.Glu461Lys		D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	pfam_Peptidase_M48	p.E461K	ENST00000371226.3	37	c.1381	CCDS608.1	1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921224	0.33908	.	.	ENSG00000162600	ENST00000371226	T	0.16597	2.33	4.31	4.31	0.51392	.	0.085120	0.49305	D	0.000147	T	0.13500	0.0327	L	0.32530	0.975	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05370	-1.0889	10	0.32370	T	0.25	-15.9883	12.456	0.55704	0.0:1.0:0.0:0.0	.	461	Q96E52	OMA1_HUMAN	K	461	ENSP00000360270:E461K	ENSP00000360270:E461K	E	-	1	0	OMA1	58719419	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	4.034000	0.57289	2.406000	0.81754	0.460000	0.39030	GAG	OMA1	-	NULL		0.313	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	C	NM_145243		58946831	-1	no_errors	ENST00000371226	ensembl	human	known	70_37	missense	SNP	1.000	T	T	58946831	C	T	58946831	3	4	185	1	0	0	0	0	1	0	0	0	10888	922	32	1	197	1	OMA1	1	58946831	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1760898	58946831	190303790	75	34350										
CYP2J2	1573	genome.wustl.edu	37	chr1	60377293	60377293	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccttacctggcatgtctttGaagcctccaagtatgtgact	9	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:60377293G>A	ENST00000371204.3	-	4	714	c.671C>T	c.(670-672)tCa>tTa	p.S224L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	224					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GCATGTCTTTGAAGCCTCCAA	0.443																																																	0													104	100	101					1																	60377293		2203	4300	6503	SO:0001583	missense	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.671C>T	1.37:g.60377293G>A	ENSP00000360247:p.Ser224Leu		B2RD33|Q8TF13	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.S224L	ENST00000371204.3	37	c.671	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770941	0.49680	.	.	ENSG00000134716	ENST00000371204	T	0.70045	-0.45	5.55	3.51	0.40186	.	1.569480	0.03534	N	0.222839	T	0.79747	0.4499	M	0.83774	2.66	0.09310	N	1	B	0.26935	0.164	B	0.43155	0.41	T	0.64960	-0.6284	10	0.87932	D	0	.	9.7366	0.40392	0.0:0.3964:0.4633:0.1403	.	224	P51589	CP2J2_HUMAN	L	224	ENSP00000360247:S224L	ENSP00000360247:S224L	S	-	2	0	CYP2J2	60149881	0.003000	0.15002	0.002000	0.10522	0.009000	0.06853	1.233000	0.32648	1.441000	0.47550	0.655000	0.94253	TCA	CYP2J2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.443	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	HGNC	protein_coding	OTTHUMT00000024940.1	G	NM_000775		60377293	-1	no_errors	ENST00000371204	ensembl	human	known	70_37	missense	SNP	0.000	A	A	60377293	G	A	60377293	3	1	185	1	0	0	0	0	1	0	0	0	4177	1294	45	1	861	1	CYP2J2	1	60377293	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1430462	60377293	188873328	76	34351										
NFIA	4774	genome.wustl.edu	37	chr1	61554147	61554147	+	Missense_Mutation	SNP	C	C	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcaagatgcgaagaattgaCtgcctccgccaggcagataa							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:61554147C>A	ENST00000403491.3	+	2	838	c.354C>A	c.(352-354)gaC>gaA	p.D118E	NFIA_ENST00000371189.4_Missense_Mutation_p.D163E|NFIA_ENST00000371187.3_Missense_Mutation_p.D118E|NFIA_ENST00000371191.1_Missense_Mutation_p.D141E|NFIA_ENST00000371184.2_Missense_Mutation_p.D118E|NFIA_ENST00000485903.2_Missense_Mutation_p.D118E|NFIA_ENST00000407417.3_Missense_Mutation_p.D110E|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371185.2_Missense_Mutation_p.D118E	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	118					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GAAGAATTGACTGCCTCCGCC	0.453																																																	0													114	122	119					1																	61554147		2203	4300	6503	SO:0001583	missense	4774			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.354C>A	1.37:g.61554147C>A	ENSP00000384523:p.Asp118Glu		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.D163E	ENST00000403491.3	37	c.489	CCDS44156.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689312	0.88735	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.87	5.87	0.94306	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.88629	0.6488	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.67145	0.996;0.992;0.992;0.972	D;D;D;D	0.76071	0.987;0.983;0.983;0.971	D	0.88777	0.3268	10	0.87932	D	0	-12.0605	20.2032	0.98269	0.0:1.0:0.0:0.0	.	163;141;118;118	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	E	141;110;163;118;118;118;118;118	ENSP00000360233:D141E;ENSP00000384680:D110E;ENSP00000360231:D163E;ENSP00000384523:D118E;ENSP00000419785:D118E;ENSP00000360227:D118E;ENSP00000360226:D118E;ENSP00000360229:D118E	ENSP00000360226:D118E	D	+	3	2	NFIA	61326735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.070000	0.71220	2.785000	0.95823	0.650000	0.86243	GAC	NFIA	-	pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom		0.453	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIA	HGNC	protein_coding	OTTHUMT00000023799.3	C	NM_005595		61554147	1	no_errors	ENST00000371189	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61554147	C	A	61554147	3	1	185	1	0	0	0	0	1	0	0	0	10394	564	20	4	506	4	NFIA	1	61554147	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1176854	61554147	187696474	77	34352	222	2								
NFIA	4774	genome.wustl.edu	37	chr1	61554153	61554154	+	Missense_Mutation	DNP	CC	CC	TT													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgcgaagaattgactgcctCcgccaggcagataaagtctg							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:61554153_61554154CC>TT	ENST00000403491.3	+	2	844_845	c.360_361CC>TT	c.(358-363)ctCCgc>ctTTgc	p.R121C	NFIA_ENST00000371189.4_Missense_Mutation_p.R166C|NFIA_ENST00000371187.3_Missense_Mutation_p.R121C|NFIA_ENST00000371191.1_Missense_Mutation_p.R144C|NFIA_ENST00000371184.2_Missense_Mutation_p.R121C|NFIA_ENST00000485903.2_Missense_Mutation_p.R121C|NFIA_ENST00000407417.3_Missense_Mutation_p.R113C|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371185.2_Missense_Mutation_p.R121C	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	121					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TTGACTGCCTCCGCCAGGCAGA	0.46																																																	0																																										SO:0001583	missense	4774			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	Exception_encountered	1.37:g.61554153_61554154delinsTT	ENSP00000384523:p.Arg121Cys		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Silent|Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.L165|p.R166C	ENST00000403491.3	37	c.495|c.496	CCDS44156.1	1																																																																																			NFIA	-	pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom		0.46	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIA	HGNC	protein_coding	OTTHUMT00000023799.3	C	NM_005595		61554153|61554154	1	no_errors	ENST00000371189	ensembl	human	known	70_37	silent|missense	SNP	0.997|1.000	T	TT	61554154	CC	TT	61554153	3	4	185	1	0	0	0	0	1	0	0	0	10394	842	30	1	512	1	NFIA	1	61554153	Missense_Mutation	DNP	CC	TCGA-Q1-A73O-01A-11D-A32I-09	6	61554153	187696468	78	34353	222	2								
DOCK7	85440	genome.wustl.edu	37	chr1	63001290	63001290	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttggtcttgtacattcgtaGaaaatccagaactctgttgg	9	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:63001290G>T	ENST00000340370.5	-	28	3409	c.3392C>A	c.(3391-3393)tCt>tAt	p.S1131Y	DOCK7_ENST00000251157.5_Missense_Mutation_p.S1162Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1162					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACATTCGTAGAAAATCCAGA	0.393																																																	0													84	77	79					1																	63001290		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3392C>A	1.37:g.63001290G>T	ENSP00000340742:p.Ser1131Tyr		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.S1162Y	ENST00000340370.5	37	c.3485	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.405673|4.405673	0.83230|0.83230	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370	T|T;T	0.24723|0.26518	1.84|1.73;1.73	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47097|0.47097	0.1427|0.1427	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	.|P;D;D;D;P	.|0.89917	.|0.589;1.0;1.0;0.997;0.746	.|B;D;D;D;P	.|0.91635	.|0.439;0.999;0.999;0.956;0.661	T|T	0.30031|0.30031	-0.9992|-0.9992	7|10	0.11485|0.45353	T|T	0.65|0.12	.|.	18.5985|18.5985	0.91239|0.91239	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1162;1131;1131;1131;1162	.|Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|.;.;.;.;.	L|Y	333|1162;1162;1131	ENSP00000413583:F333L|ENSP00000251157:S1162Y;ENSP00000340742:S1131Y	ENSP00000413583:F333L|ENSP00000251157:S1162Y	F|S	-|-	3|2	2|0	DOCK7|DOCK7	62773878|62773878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	9.652000|9.652000	0.98499|0.98499	2.616000|2.616000	0.88540|0.88540	0.650000|0.650000	0.86243|0.86243	TTC|TCT	DOCK7	-	NULL		0.393	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	G	NM_033407		63001290	-1	no_errors	ENST00000251157	ensembl	human	known	70_37	missense	SNP	1.000	T	T	63001290	G	T	63001290	3	4	185	1	0	0	0	0	1	0	0	0	4702	942	33	3	3025	3	DOCK7	1	63001290	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1447137	63001290	186249331	79	34354										
CACHD1	57685	genome.wustl.edu	37	chr1	65099937	65099937	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaacaataacacaaagttcCaagcaagtgagtgcgttctc	7	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:65099937C>T	ENST00000371073.2	+	7	1000	c.1000C>T	c.(1000-1002)Caa>Taa	p.Q334*	CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Q283*|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	334	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACAAAGTTCCAAGCAAGTGA	0.413																																																	0													72	60	64					1																	65099937		2203	4300	6503	SO:0001587	stop_gained	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1000C>T	1.37:g.65099937C>T	ENSP00000360113:p.Gln334*		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.Q334*	ENST00000371073.2	37	c.1000		1	.	.	.	.	.	.	.	.	.	.	C	38	7.102014	0.98063	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	6.06	6.06	0.98353	.	0.373616	0.34223	N	0.004160	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-4.5501	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	334;283	.	ENSP00000290039:Q283X	Q	+	1	0	CACHD1	64872525	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	6.223000	0.72257	2.882000	0.98803	0.655000	0.94253	CAA	CACHD1	-	pfscan_VWF_A		0.413	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65099937	1	no_errors	ENST00000371073	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	65099937	C	T	65099937	4	4	185	1	0	0	0	0	0	1	0	0	2542	595	21	4	873	4	CACHD1	1	65099937	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2098647	65099937	184150684	80	34355										
DNAJC6	9829	genome.wustl.edu	37	chr1	65858183	65858183	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaatcaggaaagtgagcaatCagatgatgaacttctgacac	10	7	3	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:65858183C>G	ENST00000395325.3	+	12	1524	c.1367C>G	c.(1366-1368)tCa>tGa	p.S456*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.S513*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.S443*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	456					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGTGAGCAATCAGATGATGAA	0.488																																																	0													64	59	60					1																	65858183		2203	4300	6503	SO:0001587	stop_gained	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1367C>G	1.37:g.65858183C>G	ENSP00000378735:p.Ser456*		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.S513*	ENST00000395325.3	37	c.1538	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.070230	0.97256	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	.	.	.	X	443;456;513	.	ENSP00000263441:S443X	S	+	2	0	DNAJC6	65630771	1.000000	0.71417	0.571000	0.28486	0.069000	0.16628	7.095000	0.76952	2.941000	0.99782	0.655000	0.94253	TCA	DNAJC6	-	NULL		0.488	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	C			65858183	1	no_errors	ENST00000371069	ensembl	human	known	70_37	nonsense	SNP	0.999	G	G	65858183	C	G	65858183	4	3	185	1	0	0	0	0	0	1	0	0	4663	838	29	1	1413	1	DNAJC6	1	65858183	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	758246	65858183	183392438	81	34356										
DIRAS3	9077	genome.wustl.edu	37	chr1	68512845	68512845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtacttttccccacaccagCggtgccgactaccacgacgc	8	18	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:68512845C>T	ENST00000370981.1	-	4	772	c.136G>A	c.(136-138)Gct>Act	p.A46T	GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.A46T|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	46					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCCACACCAGCGGTGCCGACT	0.597																																																	0													87	89	88					1																	68512845		2203	4300	6503	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.136G>A	1.37:g.68512845C>T	ENSP00000360020:p.Ala46Thr		B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A46T	ENST00000370981.1	37	c.136	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398702	0.62177	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.76839	-1.05;-1.05	3.94	-0.941	0.10402	Small GTP-binding protein domain (1);	.	.	.	.	T	0.66626	0.2808	L	0.46614	1.455	0.26925	N	0.966587	D	0.57899	0.981	P	0.59012	0.85	T	0.58662	-0.7597	9	0.87932	D	0	.	5.2479	0.15506	0.3344:0.5002:0.0:0.1654	.	46	O95661	DIRA3_HUMAN	T	46	ENSP00000360020:A46T;ENSP00000378627:A46T	ENSP00000360020:A46T	A	-	1	0	DIRAS3	68285433	0.000000	0.05858	0.001000	0.08648	0.101000	0.19017	1.258000	0.32944	-0.493000	0.06678	0.563000	0.77884	GCT	DIRAS3	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.597	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2	C	NM_004675		68512845	-1	no_errors	ENST00000370981	ensembl	human	known	70_37	missense	SNP	0.686	T	T	68512845	C	T	68512845	3	4	185	1	0	0	0	0	1	0	0	0	4542	768	27	2	557	2	DIRAS3	1	68512845	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2654662	68512845	180737776	82	34357										
ZZZ3	26009	genome.wustl.edu	37	chr1	78098460	78098460	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaatagcctgtgatttcttCaactactgcagaattaagtg	7	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:78098460C>T	ENST00000370801.3	-	5	1055	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	194					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GTGATTTCTTCAACTACTGCA	0.398																																																	0													119	118	118					1																	78098460		2203	4300	6503	SO:0001583	missense	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.580G>A	1.37:g.78098460C>T	ENSP00000359837:p.Glu194Lys		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.E194K	ENST00000370801.3	37	c.580	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909837	0.33721	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.34	5.34	0.76211	.	0.277596	0.39341	N	0.001395	T	0.56499	0.1989	L	0.44542	1.39	0.80722	D	1	D;P;P	0.67145	0.996;0.9;0.939	D;B;P	0.62955	0.909;0.307;0.503	T	0.55023	-0.8205	8	.	.	.	.	12.7509	0.57308	0.0:0.9247:0.0:0.0753	.	194;194;194	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	K	194	.	.	E	-	1	0	ZZZ3	77871048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.046000	0.41260	2.649000	0.89929	0.650000	0.86243	GAA	ZZZ3	-	NULL		0.398	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	C	NM_015534		78098460	-1	no_errors	ENST00000370801	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78098460	C	T	78098460	3	4	185	1	0	0	0	0	1	0	0	0	18286	835	29	1	2175	1	ZZZ3	1	78098460	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	9585615	78098460	171152161	83	34358										
FAM73A	374986	genome.wustl.edu	37	chr1	78245412	78245412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggccagctgtacctggcctGgagctccaggtacagggcca	14	13	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:78245412G>A	ENST00000370791.3	+	1	104	c.72G>A	c.(70-72)ctG>ctA	p.L24L	RNA5SP21_ENST00000410917.1_RNA|FAM73A_ENST00000443751.2_Silent_p.L24L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	24						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TACCTGGCCTGGAGCTCCAGG	0.701																																																	0													5	5	5					1																	78245412		2140	4163	6303	SO:0001819	synonymous_variant	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.72G>A	1.37:g.78245412G>A			Q6MZG0	Silent	SNP	pfam_DUF2217	p.L24	ENST00000370791.3	37	c.72	CCDS681.1	1																																																																																			FAM73A	-	NULL		0.701	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	G	NM_198549		78245412	1	no_errors	ENST00000370791	ensembl	human	known	70_37	silent	SNP	0.169	A	A	78245412	G	A	78245412	2	1	185	1	0	0	0	0	0	0	0	1	5635	1335	47	4		4	FAM73A	1	78245412	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	146952	78245412	171005209	84	34359										
LPHN2	23266	genome.wustl.edu	37	chr1	82416115	82416115	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaaggggataaagtggcctCagacacaaaggggaatgatg	14	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:82416115C>T	ENST00000370728.1	+	9	2086	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Q419*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Q481*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Q481*			O95490	LPHN2_HUMAN	latrophilin 2	481					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAAGTGGCCTCAGACACAAAG	0.403																																																	0													92	93	93					1																	82416115		2203	4300	6503	SO:0001587	stop_gained	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1441C>T	1.37:g.82416115C>T	ENSP00000359763:p.Gln481*		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.Q481*	ENST00000370728.1	37	c.1441		1	.	.	.	.	.	.	.	.	.	.	C	44	11.081428	0.99513	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	.	.	.	X	419;481;481;481;481;481;481;481;481;481;481;481;481;481	.	ENSP00000271029:Q481X	Q	+	1	0	LPHN2	82188703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.625000	0.83145	2.782000	0.95742	0.655000	0.94253	CAG	LPHN2	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	C	NM_012302		82416115	1	no_errors	ENST00000370717	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	82416115	C	T	82416115	4	4	185	1	0	0	0	0	0	1	0	0	8939	827	29	1	1459	1	LPHN2	1	82416115	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4170703	82416115	166834506	85	34360										
GBP1	2633	genome.wustl.edu	37	chr1	89520389	89520389	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtttaagagcgagggtcctCtcttgctctttcagcaactg	10	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:89520389C>G	ENST00000370473.4	-	10	1860	c.1641G>C	c.(1639-1641)gaG>gaC	p.E547D	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	547					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CGAGGGTCCTCTCTTGCTCTT	0.448																																																	0													223	217	219					1																	89520389		2203	4300	6503	SO:0001583	missense	2633			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1641G>C	1.37:g.89520389C>G	ENSP00000359504:p.Glu547Asp		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.E547D	ENST00000370473.4	37	c.1641	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059680	0.19987	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.57595	0.39	4.67	-0.822	0.10819	Guanylate-binding protein, C-terminal (3);	0.376773	0.26156	N	0.026020	T	0.21841	0.0526	L	0.60957	1.885	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.28106	-1.0054	10	0.46703	T	0.11	.	5.3744	0.16156	0.0:0.4455:0.1372:0.4173	.	547	P32455	GBP1_HUMAN	D	547;510	ENSP00000359504:E547D	ENSP00000359504:E547D	E	-	3	2	GBP1	89292977	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.491000	0.02302	-0.488000	0.06726	-0.326000	0.08463	GAG	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.448	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	C	NM_002053		89520389	-1	no_errors	ENST00000370473	ensembl	human	known	70_37	missense	SNP	0.000	G	G	89520389	C	G	89520389	3	3	185	1	0	0	0	0	1	0	0	0	6292	912	32	1	145	1	GBP1	1	89520389	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7104274	89520389	159730232	86	34361										
TGFBR3	7049	genome.wustl.edu	37	chr1	92195496	92195496	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taattgagtgagagaaaattCttccctatgttgcactttgg	9	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:92195496C>T	ENST00000525962.1	-	5	664	c.603G>A	c.(601-603)aaG>aaA	p.K201K	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.K201K|TGFBR3_ENST00000212355.4_Silent_p.K201K			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	201					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGAGAAAATTCTTCCCTATGT	0.468																																																	0													171	160	163					1																	92195496		2203	4300	6503	SO:0001819	synonymous_variant	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.603G>A	1.37:g.92195496C>T			A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.K201	ENST00000525962.1	37	c.603	CCDS30770.1	1																																																																																			TGFBR3	-	NULL		0.468	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	C	NM_003243		92195496	-1	no_errors	ENST00000212355	ensembl	human	known	70_37	silent	SNP	1.000	T	T	92195496	C	T	92195496	2	4	185	1	0	0	0	0	0	0	0	1	15853	912	32	1		1	TGFBR3	1	92195496	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2675107	92195496	157055125	87	34362										
BRDT	676	genome.wustl.edu	37	chr1	92470029	92470029	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggcaaaccagtgaaaccatCaggtgtaatgaaatcctcag	9	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:92470029C>T	ENST00000362005.3	+	18	2865	c.2447C>T	c.(2446-2448)tCa>tTa	p.S816L	BRDT_ENST00000394530.3_Missense_Mutation_p.S770L|BRDT_ENST00000370389.2_Missense_Mutation_p.S743L|BRDT_ENST00000399546.2_Missense_Mutation_p.S816L|BRDT_ENST00000402388.1_Missense_Mutation_p.S816L	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	816					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTGAAACCATCAGGTGTAATG	0.363																																																	0													85	93	90					1																	92470029		2203	4300	6503	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2447C>T	1.37:g.92470029C>T	ENSP00000354568:p.Ser816Leu		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S816L	ENST00000362005.3	37	c.2447	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239129	0.58995	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.08634	3.07;3.1;3.07;3.15;3.07	5.49	5.49	0.81192	.	0.166180	0.28821	N	0.014040	T	0.15392	0.0371	M	0.65975	2.015	0.34639	D	0.720423	D;D;P;D	0.58268	0.982;0.982;0.844;0.982	P;P;B;P	0.55667	0.781;0.781;0.164;0.781	T	0.00583	-1.1659	10	0.87932	D	0	-13.3638	18.1405	0.89638	0.0:1.0:0.0:0.0	.	770;770;820;816	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	L	816;743;816;770;816	ENSP00000354568:S816L;ENSP00000359416:S743L;ENSP00000387822:S816L;ENSP00000378038:S770L;ENSP00000384051:S816L	ENSP00000354568:S816L	S	+	2	0	BRDT	92242617	0.997000	0.39634	0.975000	0.42487	0.551000	0.35334	5.042000	0.64202	2.579000	0.87056	0.484000	0.47621	TCA	BRDT	-	NULL		0.363	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	C	NM_207189		92470029	1	no_errors	ENST00000362005	ensembl	human	known	70_37	missense	SNP	0.981	T	T	92470029	C	T	92470029	3	4	185	1	0	0	0	0	1	0	0	0	1511	838	29	1	2509	1	BRDT	1	92470029	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	274533	92470029	156780592	88	34363										
ABCD3	5825	genome.wustl.edu	37	chr1	94946072	94946072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctgggctattcctaactcGacttcgaagacccattggta	8	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:94946072G>A	ENST00000370214.4	+	9	761	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	ABCD3_ENST00000536817.1_Missense_Mutation_p.R173Q|ABCD3_ENST00000454898.2_Missense_Mutation_p.R270Q|ABCD3_ENST00000394233.2_Missense_Mutation_p.R246Q	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	246	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTCCTAACTCGACTTCGAAGA	0.393																																																	0													121	116	118					1																	94946072		2203	4300	6503	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.737G>A	1.37:g.94946072G>A	ENSP00000359233:p.Arg246Gln		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.R270Q	ENST00000370214.4	37	c.809	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319146	0.60524	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.13	3.2	0.36748	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.058735	0.64402	D	0.000003	D	0.94594	0.8258	M	0.64567	1.98	0.54753	D	0.999984	P;D;B	0.76494	0.74;0.999;0.375	B;D;B	0.68039	0.375;0.955;0.267	D	0.92751	0.6216	10	0.30078	T	0.28	-2.8981	14.4637	0.67470	0.0:0.0:0.7324:0.2676	.	270;246;246	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	Q	246;270;173;246	ENSP00000377780:R246Q;ENSP00000403357:R270Q;ENSP00000440692:R173Q;ENSP00000359233:R246Q	ENSP00000359233:R246Q	R	+	2	0	ABCD3	94718660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.191000	0.94940	0.627000	0.30340	0.650000	0.86243	CGA	ABCD3	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter		0.393	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	G	NM_002858		94946072	1	no_errors	ENST00000454898	ensembl	human	known	70_37	missense	SNP	1.000	A	A	94946072	G	A	94946072	3	1	185	1	0	0	0	0	1	0	0	0	62	1058	37	1	802	1	ABCD3	1	94946072	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2476043	94946072	154304549	89	34364										
PALMD	54873	genome.wustl.edu	37	chr1	100154591	100154591	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatccccaacagagtatcatGagcctgtatatgccaatccc	6	13	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:100154591G>C	ENST00000263174.4	+	7	1150	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	PALMD_ENST00000605497.1_Missense_Mutation_p.E259Q	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	259					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAGTATCATGAGCCTGTATA	0.453																																																	0													85	89	88					1																	100154591		2203	4300	6503	SO:0001583	missense	54873			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.775G>C	1.37:g.100154591G>C	ENSP00000263174:p.Glu259Gln		Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	pfam_Paralemmin	p.E259Q	ENST00000263174.4	37	c.775	CCDS758.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050648	0.75960	.	.	ENSG00000099260	ENST00000263174	T	0.22336	1.96	5.83	5.83	0.93111	.	0.169480	0.50627	D	0.000104	T	0.37128	0.0992	M	0.65975	2.015	0.51482	D	0.99992	D;D	0.63046	0.978;0.992	P;P	0.62560	0.853;0.904	T	0.03202	-1.1061	10	0.51188	T	0.08	-10.5268	20.1374	0.98035	0.0:0.0:1.0:0.0	.	259;179	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	Q	259	ENSP00000263174:E259Q	ENSP00000263174:E259Q	E	+	1	0	PALMD	99927179	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	6.548000	0.73896	2.763000	0.94921	0.563000	0.77884	GAG	PALMD	-	pfam_Paralemmin		0.453	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALMD	HGNC	protein_coding	OTTHUMT00000029672.1	G	NM_017734		100154591	1	no_errors	ENST00000263174	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100154591	G	C	100154591	3	2	185	1	0	0	0	0	1	0	0	0	11435	1291	45	1	801	1	PALMD	1	100154591	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5208519	100154591	149096030	90	34365										
DBT	1629	genome.wustl.edu	37	chr1	100696454	100696454	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcaaactgagacactgtatCtccttcttttacatacctaa	3	11	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:100696454C>G	ENST00000370132.4	-	4	281	c.268G>C	c.(268-270)Gat>Cat	p.D90H	DBT_ENST00000370131.3_Missense_Mutation_p.D90H	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	90	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GACACTGTATCTCCTTCTTTT	0.328																																																	0													69	67	67					1																	100696454		2202	4296	6498	SO:0001583	missense	1629			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.268G>C	1.37:g.100696454C>G	ENSP00000359151:p.Asp90His		B2R811|Q5VVL8	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.D90H	ENST00000370132.4	37	c.268	CCDS767.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393841	0.83011	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.36340	1.26;1.26	4.97	4.97	0.65823	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88075	0.2803	10	0.87932	D	0	-21.3052	18.5904	0.91210	0.0:1.0:0.0:0.0	.	90	P11182	ODB2_HUMAN	H	90	ENSP00000359151:D90H;ENSP00000359150:D90H	ENSP00000359150:D90H	D	-	1	0	DBT	100469042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.442000	0.80503	2.444000	0.82710	0.467000	0.42956	GAT	DBT	-	pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl		0.328	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBT	HGNC	protein_coding	OTTHUMT00000030101.2	C	NM_001918		100696454	-1	no_errors	ENST00000370132	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100696454	C	G	100696454	3	3	185	1	0	0	0	0	1	0	0	0	4263	913	32	1	1212	1	DBT	1	100696454	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	541863	100696454	148554167	91	34366										
OLFM3	118427	genome.wustl.edu	37	chr1	102290645	102290645	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cactctttggtgtagttcctCgtagtcataggcaccaattt	8	10	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:102290645C>G	ENST00000338858.5	-	4	588	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	OLFM3_ENST00000536598.1_Missense_Mutation_p.E102Q|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.E197Q|OLFM3_ENST00000370103.4_Missense_Mutation_p.E177Q			Q96PB7	NOE3_HUMAN	olfactomedin 3	197					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGTAGTTCCTCGTAGTCATAG	0.403																																																	0													158	147	151					1																	102290645		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.589G>C	1.37:g.102290645C>G	ENSP00000345192:p.Glu197Gln		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.E197Q	ENST00000338858.5	37	c.589		1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782874	0.49891	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.88896	-2.44;-2.43;-0.83;0.26	5.86	5.86	0.93980	.	0.095383	0.64402	D	0.000001	T	0.81029	0.4738	L	0.51422	1.61	0.54753	D	0.999986	B;P	0.43578	0.228;0.811	B;B	0.34038	0.03;0.174	T	0.81462	-0.0922	10	0.32370	T	0.25	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	177;197	Q5T3V6;Q96PB7	.;NOE3_HUMAN	Q	48;177;197;102;197	ENSP00000359121:E177Q;ENSP00000345192:E197Q;ENSP00000443471:E102Q;ENSP00000352867:E197Q	ENSP00000345192:E197Q	E	-	1	0	OLFM3	102063233	1.000000	0.71417	0.981000	0.43875	0.700000	0.40528	7.802000	0.85969	2.777000	0.95525	0.655000	0.94253	GAG	OLFM3	-	superfamily_Quino_amine_DH_bsu		0.403	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	C			102290645	-1	no_errors	ENST00000338858	ensembl	human	known	70_37	missense	SNP	1.000	G	G	102290645	C	G	102290645	3	3	185	1	0	0	0	0	1	0	0	0	10878	893	31	1	859	1	OLFM3	1	102290645	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1594191	102290645	146959976	92	34367										
COL11A1	1301	genome.wustl.edu	37	chr1	103474021	103474021	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaatttttattttttacctGaggacctggatcaccactct	5	10	2	1	rs377107722		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:103474021G>A	ENST00000370096.3	-	15	1993	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q522*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q573*|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q445*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	561	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTTACCTGAGGACCTGGA	0.363																																																	0								G	stop/GLN,stop/GLN,stop/GLN,stop/GLN	0,4402		0,0,2201	42	50	47		1564,1681,1717,1333	5.6	1	1		47	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	,,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,,	522/1768,561/1807,573/1819,445/1691	103474021	1,13001	2201	4300	6501	SO:0001587	stop_gained	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1681C>T	1.37:g.103474021G>A	ENSP00000359114:p.Gln561*		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.Q573*	ENST00000370096.3	37	c.1717	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.722809	0.98929	0.0	1.16E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	5.58	5.58	0.84498	.	0.116455	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.5574	0.95357	0.0:0.0:1.0:0.0	.	.	.	.	X	561;573;522;445	.	ENSP00000302551:Q522X	Q	-	1	0	COL11A1	103246609	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.190000	0.94934	2.623000	0.88846	0.655000	0.94253	CAG	COL11A1	-	pfam_Collagen		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103474021	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	103474021	G	A	103474021	4	1	185	1	0	0	0	0	0	1	0	0	3672	1299	45	1	3951	1	COL11A1	1	103474021	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1183376	103474021	145776600	93	34368										
COL11A1	1301	genome.wustl.edu	37	chr1	103474059	103474059	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctcacctttggccccagatGaaccaggccccccctataga	7	17	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:103474059G>A	ENST00000370096.3	-	15	1955	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	COL11A1_ENST00000353414.4_Missense_Mutation_p.S509L|COL11A1_ENST00000358392.2_Missense_Mutation_p.S560L|COL11A1_ENST00000461720.1_5'Flank|COL11A1_ENST00000512756.1_Missense_Mutation_p.S432L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	548	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGCCCCAGATGAACCAGGCCC	0.373																																																	0													55	65	61					1																	103474059		2202	4300	6502	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1643C>T	1.37:g.103474059G>A	ENSP00000359114:p.Ser548Leu		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.S560L	ENST00000370096.3	37	c.1679	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586046	0.28268	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.92545	-2.99;-2.99;-2.99;-3.06;-2.06	5.58	4.66	0.58398	.	0.541671	0.19449	N	0.113969	T	0.72350	0.3449	N	0.16833	0.445	0.28586	N	0.909907	B;B;B;B	0.27416	0.095;0.078;0.178;0.095	B;B;B;B	0.26202	0.067;0.04;0.058;0.067	T	0.60214	-0.7307	10	0.17369	T	0.5	.	10.9892	0.47539	0.0706:0.1294:0.8:0.0	.	432;509;560;548	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	L	548;560;509;432;560	ENSP00000359114:S548L;ENSP00000351163:S560L;ENSP00000302551:S509L;ENSP00000426533:S432L;ENSP00000408640:S560L	ENSP00000302551:S509L	S	-	2	0	COL11A1	103246647	0.270000	0.24152	0.981000	0.43875	0.867000	0.49689	2.714000	0.47202	1.346000	0.45694	0.655000	0.94253	TCA	COL11A1	-	pfam_Collagen		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103474059	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	0.865	A	A	103474059	G	A	103474059	3	1	185	1	0	0	0	0	1	0	0	0	3672	1294	45	1	3989	1	COL11A1	1	103474059	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	38	103474059	145776562	94	34369										
FAM40A	85369	genome.wustl.edu	37	chr1	110585817	110585817	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcaaagtgattcgcaacatGagagcagcctctccaccagc	8	13	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:110585817G>A	ENST00000369795.3	+	9	1015	c.993G>A	c.(991-993)atG>atA	p.M331I	STRIP1_ENST00000369796.1_Missense_Mutation_p.M236I	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	331					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											TTCGCAACATGAGAGCAGCCT	0.587																																																	0													69	68	68					1																	110585817		2203	4300	6503	SO:0001583	missense	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.993G>A	1.37:g.110585817G>A	ENSP00000358810:p.Met331Ile		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.M331I	ENST00000369795.3	37	c.993	CCDS30798.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.693141	0.96793	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.50277	0.76;0.75	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.86953	2.85	0.80722	D	1	D;P	0.58620	0.983;0.647	P;P	0.56434	0.798;0.625	T	0.61884	-0.6971	10	0.31617	T	0.26	-35.6421	20.3409	0.98764	0.0:0.0:1.0:0.0	.	236;331	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	I	236;331	ENSP00000358811:M236I;ENSP00000358810:M331I	ENSP00000358810:M331I	M	+	3	0	FAM40A	110387340	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.396000	0.97270	2.814000	0.96858	0.655000	0.94253	ATG	STRIP1	-	pfam_N1221		0.587	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP1	HGNC	protein_coding	OTTHUMT00000032213.1	G	NM_033088		110585817	1	no_errors	ENST00000369795	ensembl	human	known	70_37	missense	SNP	1.000	A	A	110585817	G	A	110585817	3	1	185	1	0	0	0	0	1	0	0	0	5578	1290	45	1	1027	1	FAM40A	1	110585817	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7111758	110585817	138664804	95	34370										
C1orf103	55791	genome.wustl.edu	37	chr1	111506249	111506249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaccggtacttaccaacgcGaggcgttgcctgaattttcc	9	12	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:111506249G>A	ENST00000369763.4	-	1	452	c.62C>T	c.(61-63)tCg>tTg	p.S21L	LRIF1_ENST00000485275.2_5'UTR|RP11-96K19.5_ENST00000609118.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTACCAACGCGAGGCGTTGCC	0.547											OREG0013667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													54	49	51					1																	111506249		2203	4300	6503	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.62C>T	1.37:g.111506249G>A	ENSP00000358778:p.Ser21Leu	1435	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.S21L	ENST00000369763.4	37	c.62	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836050	0.50951	.	.	ENSG00000121931	ENST00000369763	T	0.23950	1.88	4.34	4.34	0.51931	.	0.558906	0.15977	N	0.235502	T	0.09512	0.0234	N	0.24115	0.695	0.80722	D	1	P	0.39920	0.695	B	0.35312	0.2	T	0.07790	-1.0754	10	0.87932	D	0	.	12.5257	0.56085	0.0:0.0:1.0:0.0	.	21	Q5T3J3	LRIF1_HUMAN	L	21	ENSP00000358778:S21L	ENSP00000358778:S21L	S	-	2	0	LRIF1	111307772	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	3.926000	0.56491	2.413000	0.81919	0.655000	0.94253	TCG	LRIF1	-	NULL		0.547	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	G	NM_018372		111506249	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111506249	G	A	111506249	3	1	185	1	0	0	0	0	1	0	0	0	1982	1059	37	1	2263	1	C1orf103	1	111506249	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	920432	111506249	137744372	96	34371										
RSBN1	54665	genome.wustl.edu	37	chr1	114340197	114340197	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaactcctcagaaaatctctCcatctccattggagacaaaa	4	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:114340197C>G	ENST00000261441.5	-	2	1228	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	389						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAATCTCTCCATCTCCATT	0.403																																																	0													39	37	38					1																	114340197		2203	4300	6503	SO:0001583	missense	54665			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1165G>C	1.37:g.114340197C>G	ENSP00000261441:p.Glu389Gln		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.E389Q	ENST00000261441.5	37	c.1165	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699444	0.68501	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	T	0.70146	-0.4952	9	0.51188	T	0.08	-13.5836	20.1346	0.98019	0.0:1.0:0.0:0.0	.	389	Q5VWQ0	RSBN1_HUMAN	Q	389	.	ENSP00000261441:E389Q	E	-	1	0	RSBN1	114141720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.982000	0.56909	2.765000	0.95021	0.655000	0.94253	GAG	RSBN1	-	NULL		0.403	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	C	NM_018364		114340197	-1	no_errors	ENST00000261441	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114340197	C	G	114340197	3	3	185	1	0	0	0	0	1	0	0	0	13726	864	30	1	1267	1	RSBN1	1	114340197	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2833948	114340197	134910424	97	34372										
AP4B1	10717	genome.wustl.edu	37	chr1	114445444	114445444	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcactggccttcaccatttCcataaaaacaccagacatgt	6	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:114445444C>G	ENST00000369569.1	-	2	434	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	DCLRE1B_ENST00000369563.3_5'Flank|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.E52Q|AP4B1_ENST00000369566.3_Missense_Mutation_p.E52Q|AP4B1_ENST00000369567.1_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	52					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCACCATTTCCATAAAAACA	0.448																																																	0													132	112	119					1																	114445444		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.154G>C	1.37:g.114445444C>G	ENSP00000358582:p.Glu52Gln		B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.E52Q	ENST00000369569.1	37	c.154	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883913	0.91814	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369571	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.21	5.21	0.72293	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.40543	1.245	0.36447	D	0.865874	D;D	0.69078	0.997;0.997	D;D	0.68621	0.944;0.959	T	0.34329	-0.9833	10	0.72032	D	0.01	-12.6946	19.1427	0.93451	0.0:1.0:0.0:0.0	.	52;52	B7Z4X3;Q9Y6B7	.;AP4B1_HUMAN	Q	52	ENSP00000358582:E52Q;ENSP00000256658:E52Q;ENSP00000358579:E52Q;ENSP00000358584:E52Q	ENSP00000256658:E52Q	E	-	1	0	AP4B1	114246967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.034000	0.76511	2.581000	0.87130	0.655000	0.94253	GAA	AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	C	NM_006594		114445444	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114445444	C	G	114445444	3	3	185	1	0	0	0	0	1	0	0	0	751	864	30	1	2101	1	AP4B1	1	114445444	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	105247	114445444	134805177	98	34373										
DENND2C	163259	genome.wustl.edu	37	chr1	115153695	115153695	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccccattgactcactcactCtttggcagatactcggcatc	7	15	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:115153695C>G	ENST00000393274.1	-	9	1993	c.1368G>C	c.(1366-1368)aaG>aaC	p.K456N	DENND2C_ENST00000393276.3_Splice_Site_p.K399N|DENND2C_ENST00000393277.1_Splice_Site_p.K456N|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	456					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCACTCACTCTTTGGCAGAT	0.463																																																	0													301	225	251					1																	115153695		2203	4300	6503	SO:0001630	splice_region_variant	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1369+1G>C	1.37:g.115153695C>G			B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K456N	ENST00000393274.1	37	c.1368	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477723	0.84640	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.13420	3.55;3.3;2.59	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000002	T	0.23611	0.0571	M	0.79011	2.435	0.48452	D	0.999653	P;P	0.52842	0.956;0.909	P;P	0.61328	0.535;0.887	T	0.01553	-1.1326	10	0.87932	D	0	.	8.8384	0.35126	0.0:0.8747:0.0:0.1253	.	456;399	Q68D51;Q68D51-3	DEN2C_HUMAN;.	N	399;456;456;456	ENSP00000376957:K399N;ENSP00000376955:K456N;ENSP00000376958:K456N	ENSP00000358553:K456N	K	-	3	2	DENND2C	114955218	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.151000	0.58105	2.691000	0.91804	0.561000	0.74099	AAG	DENND2C	-	NULL		0.463	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459	Missense_Mutation	115153695	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	1.000	G	G	115153695	C	G	115153695	5	3	185	1	0	0	0	0	0	0	1	0	4440	927	32	1	1470	1	DENND2C	1	115153695	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	708251	115153695	134096926	99	34374										
PTGFRN	5738	genome.wustl.edu	37	chr1	117527316	117527316	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgtagatgacatggcctttGatgtgtcctggtttgcggtg	14	8	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:117527316G>A	ENST00000393203.2	+	8	2329	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	728	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CATGGCCTTTGATGTGTCCTG	0.547																																																	0													257	198	218					1																	117527316		2203	4300	6503	SO:0001583	missense	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2182G>A	1.37:g.117527316G>A	ENSP00000376899:p.Asp728Asn		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D728N	ENST00000393203.2	37	c.2182	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803298	0.90623	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.03772	3.81	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.054286	0.64402	D	0.000001	T	0.09158	0.0226	L	0.50333	1.59	0.48696	D	0.999696	D	0.89917	1.0	D	0.68621	0.959	T	0.40040	-0.9584	10	0.22109	T	0.4	-27.5795	17.0798	0.86595	0.0:0.0:1.0:0.0	.	728	Q9P2B2	FPRP_HUMAN	N	728;587	ENSP00000376899:D728N	ENSP00000376899:D728N	D	+	1	0	PTGFRN	117328839	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.394000	0.73223	2.642000	0.89623	0.561000	0.74099	GAT	PTGFRN	-	smart_Ig_sub,pfscan_Ig-like		0.547	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	G	NM_020440		117527316	1	no_errors	ENST00000393203	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117527316	G	A	117527316	3	1	185	1	0	0	0	0	1	0	0	0	12778	1290	45	1	2212	1	PTGFRN	1	117527316	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2373621	117527316	131723305	100	34375										
GDAP2	54834	genome.wustl.edu	37	chr1	118461268	118461268	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaggccctgcaagcatgaaGatactttctgacacaggatt	9	10	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:118461268G>A	ENST00000369443.5	-	3	516	c.267C>T	c.(265-267)atC>atT	p.I89I	GDAP2_ENST00000369442.3_Silent_p.I89I	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	89	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CAAGCATGAAGATACTTTCTG	0.368																																																	0													106	99	101					1																	118461268		2203	4300	6503	SO:0001819	synonymous_variant	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.267C>T	1.37:g.118461268G>A			Q96DZ0	Silent	SNP	pfam_A1pp,superfamily_CRAL-TRIO_dom,smart_A1pp,smart_CRAL-TRIO_dom,pfscan_A1pp	p.I89	ENST00000369443.5	37	c.267	CCDS897.1	1																																																																																			GDAP2	-	pfam_A1pp,smart_A1pp,pfscan_A1pp		0.368	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	HGNC	protein_coding	OTTHUMT00000033732.2	G	NM_017686		118461268	-1	no_errors	ENST00000369443	ensembl	human	known	70_37	silent	SNP	1.000	A	A	118461268	G	A	118461268	2	1	185	1	0	0	0	0	0	0	0	1	6328	932	33	1		1	GDAP2	1	118461268	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	933952	118461268	130789353	101	34376										
HAO2	51179	genome.wustl.edu	37	chr1	119923791	119923791	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcgggattttattgaaggtgGagcagatgacagcatcacgc	13	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:119923791G>C	ENST00000325945.3	+	2	156	c.83G>C	c.(82-84)gGa>gCa	p.G28A	HAO2_ENST00000361035.4_Missense_Mutation_p.G41A	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	28	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ATTGAAGGTGGAGCAGATGAC	0.483																																																	0													210	195	200					1																	119923791		2203	4300	6503	SO:0001583	missense	51179			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.83G>C	1.37:g.119923791G>C	ENSP00000316339:p.Gly28Ala		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.G41A	ENST00000325945.3	37	c.122	CCDS901.1	1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358364	0.41801	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.36878	1.23;1.23;1.23	5.4	1.25	0.21368	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.220918	0.47455	N	0.000225	T	0.21801	0.0525	L	0.55834	1.745	0.58432	D	0.999999	P	0.42357	0.777	P	0.47827	0.558	T	0.02966	-1.1088	9	.	.	.	-3.5141	6.9975	0.24791	0.0696:0.1795:0.6361:0.1148	.	28	Q9NYQ3	HAOX2_HUMAN	A	28;41;28	ENSP00000393955:G28A;ENSP00000354314:G41A;ENSP00000316339:G28A	.	G	+	2	0	HAO2	119725314	1.000000	0.71417	0.827000	0.32855	0.072000	0.16883	3.520000	0.53465	-0.013000	0.14199	0.655000	0.94253	GGA	HAO2	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.483	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO2	HGNC	protein_coding	OTTHUMT00000034984.1	G	NM_001005783		119923791	1	no_errors	ENST00000361035	ensembl	human	known	70_37	missense	SNP	1.000	C	C	119923791	G	C	119923791	3	2	185	1	0	0	0	0	1	0	0	0	6972	1174	41	1	85	1	HAO2	1	119923791	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1462523	119923791	129326830	102	34377										
FCGR1B	2210	genome.wustl.edu	37	chr1	120927232	120927232	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcttcttctaaatgtctgtCttcttgaaggctggaaatta	7	8	6	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:120927232C>T	ENST00000369384.4	-	5	790	c.748G>A	c.(748-750)Gac>Aac	p.D250N	RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'Flank|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.D158N	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	250					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	AAATGTCTGTCTTCTTGAAGG	0.448																																																	0													7	7	7					1																	120927232		2063	4077	6140	SO:0001583	missense	2210				CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3614	protein-coding gene	gene with protein product		601502	"Fc fragment of IgG, high affinity Ib, receptor for (CD64)"			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.748G>A	1.37:g.120927232C>T	ENSP00000358391:p.Asp250Asn		Q7KZ13|Q92638	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D250N	ENST00000369384.4	37	c.748	CCDS30821.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.10|11.10	1.540610|1.540610	0.27563|0.27563	.|.	.|.	ENSG00000198019|ENSG00000198019	ENST00000369384;ENST00000369383|ENST00000369178	T;T|.	0.06528|.	4.55;3.29|.	1.96|1.96	-3.93|-3.93	0.04143|0.04143	.|.	2.578810|.	0.02108|.	N|.	0.054567|.	T|T	0.04092|0.04092	0.0114|0.0114	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.26775|.	0.159;0.118|.	B;B|.	0.17098|.	0.011;0.017|.	T|T	0.36456|0.36456	-0.9747|-0.9747	10|5	0.59425|.	D|.	0.04|.	.|.	4.5219|4.5219	0.11962|0.11962	0.3967:0.2382:0.3651:0.0|0.3967:0.2382:0.3651:0.0	.|.	158;250|.	Q92637-3;Q92637|.	.;FCGRB_HUMAN|.	N|K	250;158|234	ENSP00000358391:D250N;ENSP00000358390:D158N|.	ENSP00000358390:D158N|.	D|R	-|-	1|2	0|0	FCGR1B|FCGR1B	120728755|120728755	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.472000|0.472000	0.32918|0.32918	-0.019000|-0.019000	0.12546|0.12546	-1.071000|-1.071000	0.03145|0.03145	0.184000|0.184000	0.17185|0.17185	GAC|AGA	FCGR1B	-	NULL		0.448	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1B	HGNC	protein_coding	OTTHUMT00000098241.1	C			120927232	-1	no_errors	ENST00000369384	ensembl	human	known	70_37	missense	SNP	0.000	T	T	120927232	C	T	120927232	3	4	185	1	0	0	0	0	1	0	0	0	5798	913	32	1	98	1	FCGR1B	1	120927232	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1003441	120927232	128323389	103	34378										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144856866	144856866	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgcacgctgatctcacaaGagacactatctttttgacca	7	12	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:144856866G>C	ENST00000369354.3	-	40	6808	c.6619C>G	c.(6619-6621)Ctt>Gtt	p.L2207V	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L2101V|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L2343V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L2292V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L2207V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2207					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATCTCACAAGAGACACTATC	0.517			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													36	30	32					1																	144856866		2202	4287	6489	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6619C>G	1.37:g.144856866G>C	ENSP00000358360:p.Leu2207Val		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L2207V	ENST00000369354.3	37	c.6619	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.009835	0.35415	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.81;4.79;4.79;4.81	4.52	2.6	0.31112	.	.	.	.	.	T	0.00875	0.0029	M	0.72479	2.2	0.09310	N	1	B;B	0.32245	0.356;0.361	B;B	0.34452	0.164;0.183	T	0.48885	-0.8995	9	0.30078	T	0.28	.	3.6142	0.08071	0.0942:0.1658:0.5693:0.1708	.	2101;2207	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2101;2207;2207;2292;2343	ENSP00000327209:L2101V;ENSP00000358360:L2207V;ENSP00000358363:L2207V;ENSP00000435654:L2292V;ENSP00000358366:L2343V	ENSP00000327209:L2101V	L	-	1	0	PDE4DIP	143568223	0.286000	0.24305	0.001000	0.08648	0.018000	0.09664	1.137000	0.31479	0.441000	0.26529	0.455000	0.32223	CTT	PDE4DIP	-	NULL		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144856866	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.002	C	C	144856866	G	C	144856866	3	2	185	1	0	0	0	0	1	0	0	0	11667	942	33	1	441	1	PDE4DIP	1	144856866	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	23929634	144856866	104393755	104	34379										
PDE4DIP	9659	genome.wustl.edu	37	chr1	144931628	144931628	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaaagcagaacctggagattGagcttggacgccgtgtggaa	15	7	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:144931628G>C	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Silent_p.L27L|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000529945.1_Silent_p.L27L|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTGGAGATTGAGCTTGGACG	0.572			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													65	64	64					1																	144931628		2203	4300	6503	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7807C>G	1.37:g.144931628G>C			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	superfamily_ARM-type_fold	p.L27	ENST00000369354.3	37	c.81	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144931628	-1	no_errors	ENST00000313431	ensembl	human	known	70_37	silent	SNP	1.000	C	C	144931628	G	C	144931628	1	2	185	0	1	0	0	0	0	0	0	0	11667	1277	45	1		1	PDE4DIP	1	144931628	Intron	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	74762	144931628	104318993	105	34380										
ITGA10	8515	genome.wustl.edu	37	chr1	145538296	145538296	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atccaatatgagccccacctCctgttctctaggtatgccca	6	15	1	1	rs587695396		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:145538296C>T	ENST00000369304.3	+	23	2998	c.2823C>T	c.(2821-2823)ctC>ctT	p.L941L	ITGA10_ENST00000538811.1_Silent_p.L810L|ITGA10_ENST00000539363.1_Silent_p.L798L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	941					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCCCACCTCCTGTTCTCTA	0.542													C|||	1	0.000199681	0	0	5008	,	,		19298	0		0.001	False		,,,				2504	0																0													149	121	131					1																	145538296		2203	4300	6503	SO:0001819	synonymous_variant	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2823C>T	1.37:g.145538296C>T			B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L941	ENST00000369304.3	37	c.2823	CCDS918.1	1																																																																																			ITGA10	-	pfam_Integrin_alpha-2		0.542	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	C	NM_003637		145538296	1	no_errors	ENST00000369304	ensembl	human	known	70_37	silent	SNP	0.895	T	T	145538296	C	T	145538296	2	4	185	1	0	0	0	0	0	0	0	1	7893	842	30	1		1	ITGA10	1	145538296	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	606668	145538296	103712325	106	34381										
MTMR11	10903	genome.wustl.edu	37	chr1	149906184	149906184	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtcttccgctgtctccatgaGaggaattggtggttttctgg	13	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:149906184G>C	ENST00000439741.2	-	7	833	c.583C>G	c.(583-585)Ctc>Gtc	p.L195V	MTMR11_ENST00000406732.3_Missense_Mutation_p.L167V|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.L195V|MTMR11_ENST00000369140.3_Missense_Mutation_p.L123V	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	195							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTCTCCATGAGAGGAATTGGT	0.552																																																	0													78	72	74					1																	149906184		2203	4300	6503	SO:0001583	missense	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.583C>G	1.37:g.149906184G>C	ENSP00000391668:p.Leu195Val		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.L195V	ENST00000439741.2	37	c.583	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629901	0.67015	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732;ENST00000405710	D;D;T;D	0.96830	-3.65;-3.68;0.52;-4.14	5.8	5.8	0.92144	.	0.078966	0.52532	D	0.000068	D	0.97077	0.9045	L	0.57536	1.79	0.37839	D	0.928986	D;D;D;D	0.71674	0.99;0.998;0.998;0.997	D;D;D;D	0.83275	0.979;0.996;0.99;0.978	D	0.96093	0.9063	10	0.31617	T	0.26	.	17.5569	0.87894	0.0:0.0:1.0:0.0	.	37;167;123;195	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	V	123;195;195;167;37	ENSP00000358136:L123V;ENSP00000391668:L195V;ENSP00000354941:L195V;ENSP00000383948:L167V	ENSP00000354941:L195V	L	-	1	0	MTMR11	148172808	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.497000	0.60367	2.735000	0.93741	0.655000	0.94253	CTC	MTMR11	-	NULL		0.552	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		G	NM_181873		149906184	-1	no_errors	ENST00000439741	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149906184	G	C	149906184	3	2	185	1	0	0	0	0	1	0	0	0	9963	942	33	1	1629	1	MTMR11	1	149906184	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4367888	149906184	99344437	107	34382										
RPRD2	23248	genome.wustl.edu	37	chr1	150429953	150429953	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtcaccaaccatggagagtGagaaatctgccacacctgaa	9	11	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:150429953G>A	ENST00000369068.4	+	8	1064	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	RPRD2_ENST00000401000.4_Missense_Mutation_p.E328K|RPRD2_ENST00000539519.1_Missense_Mutation_p.E328K|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	354						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CATGGAGAGTGAGAAATCTGC	0.498																																																	0													199	190	193					1																	150429953		1938	4155	6093	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1060G>A	1.37:g.150429953G>A	ENSP00000358064:p.Glu354Lys		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.E354K	ENST00000369068.4	37	c.1060	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010804	0.54361	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.43294	0.95;0.96;0.95	5.2	5.2	0.72013	.	0.393039	0.29908	N	0.010899	T	0.11965	0.0291	N	0.22421	0.69	0.22226	N	0.99928	B;B;B	0.15473	0.001;0.002;0.013	B;B;B	0.19391	0.001;0.001;0.025	T	0.07712	-1.0758	10	0.16420	T	0.52	-5.6263	9.4209	0.38550	0.0784:0.1566:0.765:0.0	.	328;354;328	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	K	328;328;354	ENSP00000383785:E328K;ENSP00000445482:E328K;ENSP00000358064:E354K	ENSP00000358064:E354K	E	+	1	0	RPRD2	148696577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.935000	0.48963	2.854000	0.98071	0.655000	0.94253	GAG	RPRD2	-	NULL		0.498	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	G	NM_015203		150429953	1	no_errors	ENST00000369068	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150429953	G	A	150429953	3	1	185	1	0	0	0	0	1	0	0	0	13647	1291	45	1	1090	1	RPRD2	1	150429953	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	523769	150429953	98820668	108	34383										
SETDB1	9869	genome.wustl.edu	37	chr1	150923106	150923106	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcagctatacctgtctgtctCgagtcagacctatgaggaat	10	10	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:150923106C>A	ENST00000271640.5	+	13	1943	c.1753C>A	c.(1753-1755)Cga>Aga	p.R585R	SETDB1_ENST00000368969.4_Silent_p.R585R|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	585					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R585*(2)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTCTGTCTCGAGTCAGACC	0.567																																																	2	Substitution - Nonsense(2)	large_intestine(2)											97	96	96					1																	150923106		2203	4300	6503	SO:0001819	synonymous_variant	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1753C>A	1.37:g.150923106C>A			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R585	ENST00000271640.5	37	c.1753	CCDS44217.1	1																																																																																			SETDB1	-	NULL		0.567	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	C			150923106	1	no_errors	ENST00000271640	ensembl	human	known	70_37	silent	SNP	1.000	A	A	150923106	C	A	150923106	2	1	185	1	0	0	0	0	0	0	0	1	14168	876	31	3		3	SETDB1	1	150923106	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	493153	150923106	98327515	109	34384										
TCHHL1	126637	genome.wustl.edu	37	chr1	152059164	152059164	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttcctggttcttgagtgtCaaacattctacagacatcct	6	11	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:152059164C>G	ENST00000368806.1	-	3	1058	c.994G>C	c.(994-996)Gac>Cac	p.D332H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	332							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTTGAGTGTCAAACATTCTA	0.468																																																	0													237	221	227					1																	152059164		2203	4300	6503	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.994G>C	1.37:g.152059164C>G	ENSP00000357796:p.Asp332His		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.D332H	ENST00000368806.1	37	c.994	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	14.38	2.518147	0.44763	.	.	ENSG00000182898	ENST00000368806	T	0.28069	1.63	4.94	4.0	0.46444	.	0.796012	0.10466	N	0.671389	T	0.11879	0.0289	L	0.36672	1.1	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.30031	-0.9992	10	0.52906	T	0.07	-0.8694	11.5227	0.50560	0.0:0.8184:0.1816:0.0	.	332	Q5QJ38	TCHL1_HUMAN	H	332	ENSP00000357796:D332H	ENSP00000357796:D332H	D	-	1	0	TCHHL1	150325788	0.040000	0.19996	0.012000	0.15200	0.005000	0.04900	1.488000	0.35551	1.204000	0.43247	0.644000	0.83932	GAC	TCHHL1	-	NULL		0.468	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	C	XM_060104		152059164	-1	no_errors	ENST00000368806	ensembl	human	known	70_37	missense	SNP	0.028	G	G	152059164	C	G	152059164	3	3	185	1	0	0	0	0	1	0	0	0	15731	826	29	1	1724	1	TCHHL1	1	152059164	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1136058	152059164	97191457	110	34385										
TCHH	7062	genome.wustl.edu	37	chr1	152084526	152084526	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcagctgctgctcgcgcctCagctgctgctcgcgcctcag	11	18	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:152084526C>G	ENST00000368804.1	-	2	1166	c.1167G>C	c.(1165-1167)ctG>ctC	p.L389L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	389	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctcagctgctgct	0.721																																																	0																																										SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1167G>C	1.37:g.152084526C>G			Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L389	ENST00000368804.1	37	c.1167	CCDS41396.1	1																																																																																			TCHH	-	NULL		0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152084526	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	silent	SNP	0.000	G	G	152084526	C	G	152084526	2	3	185	1	0	0	0	0	0	0	0	1	15730	813	29	1		1	TCHH	1	152084526	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	25362	152084526	97166095	111	34386										
HRNR	388697	genome.wustl.edu	37	chr1	152188725	152188725	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtgctagatccctcctggtCaaaggttgatgactgtcctg	11	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:152188725C>T	ENST00000368801.2	-	3	5455	c.5380G>A	c.(5380-5382)Gac>Aac	p.D1794N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1794					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCCTGGTCAAAGGTTGAT	0.537																																																	0													5	9	8					1																	152188725		1235	3213	4448	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5380G>A	1.37:g.152188725C>T	ENSP00000357791:p.Asp1794Asn		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.D1794N	ENST00000368801.2	37	c.5380	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.586	0.669654	0.14776	.	.	ENSG00000197915	ENST00000368801	T	0.01538	4.79	3.59	-1.67	0.08238	.	.	.	.	.	T	0.00412	0.0013	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.37596	-0.9699	9	0.13853	T	0.58	.	8.3962	0.32559	0.0:0.484:0.0:0.516	.	1794	Q86YZ3	HORN_HUMAN	N	1794	ENSP00000357791:D1794N	ENSP00000357791:D1794N	D	-	1	0	HRNR	150455349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.023000	0.01438	-0.214000	0.10078	-0.131000	0.14894	GAC	HRNR	-	NULL		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188725	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T	T	152188725	C	T	152188725	3	4	185	1	0	0	0	0	1	0	0	0	7379	826	29	1	3176	1	HRNR	1	152188725	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	104199	152188725	97061896	112	34387										
FLG	2312	genome.wustl.edu	37	chr1	152287172	152287172	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtcaattttcttgttgtggtCtatatccaagtgatccatga	8	7	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:152287172C>G	ENST00000368799.1	-	3	225	c.190G>C	c.(190-192)Gac>Cac	p.D64H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	64	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			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)			TTGTTGTGGTCTATATCCAAG	0.403									Ichthyosis																																								0													100	101	101					1																	152287172		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.190G>C	1.37:g.152287172C>G	ENSP00000357789:p.Asp64His		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.D64H	ENST00000368799.1	37	c.190	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	4.140	0.024366	0.08054	.	.	ENSG00000143631	ENST00000368799	T	0.18338	2.22	5.09	4.18	0.49190	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.38054	0.1026	H	0.95004	3.61	0.26931	N	0.966461	D	0.89917	1.0	D	0.76575	0.988	T	0.42965	-0.9420	9	0.72032	D	0.01	-19.7067	9.3182	0.37948	0.0:0.9036:0.0:0.0964	.	64	P20930	FILA_HUMAN	H	64	ENSP00000357789:D64H	ENSP00000357789:D64H	D	-	1	0	FLG	150553796	0.985000	0.35326	0.985000	0.45067	0.104000	0.19210	1.987000	0.40687	1.387000	0.46486	-0.225000	0.12378	GAC	FLG	-	pfscan_EF_HAND_2		0.403	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152287172	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.979	G	G	152287172	C	G	152287172	3	3	185	1	0	0	0	0	1	0	0	0	5940	913	32	1	11999	1	FLG	1	152287172	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	98447	152287172	96963449	113	34388										
NPR1	4881	genome.wustl.edu	37	chr1	153657530	153657530	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agccttgagaggcacctgcgGagtgcaggcagccggctgac	16	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:153657530G>A	ENST00000368680.3	+	8	2047	c.1575G>A	c.(1573-1575)cgG>cgA	p.R525R		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	525					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGCACCTGCGGAGTGCAGGCA	0.627																																					Pancreas(141;1349 1870 15144 15830 40702)												0													56	57	57					1																	153657530		2203	4300	6503	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1575G>A	1.37:g.153657530G>A			B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.R525	ENST00000368680.3	37	c.1575	CCDS1051.1	1																																																																																			NPR1	-	smart_Tyr_kinase_cat_dom		0.627	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153657530	1	no_errors	ENST00000368680	ensembl	human	known	70_37	silent	SNP	1.000	A	A	153657530	G	A	153657530	2	1	185	1	0	0	0	0	0	0	0	1	10618	1161	41	1		1	NPR1	1	153657530	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1370358	153657530	95593091	114	34389										
NPR1	4881	genome.wustl.edu	37	chr1	153658665	153658665	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgacacgaaaagtcctgtttGaactgaagcatgtaatgtgg	11	6	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:153658665G>C	ENST00000368680.3	+	10	2219	c.1747G>C	c.(1747-1749)Gaa>Caa	p.E583Q		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGTCCTGTTTGAACTGAAGCA	0.542																																					Pancreas(141;1349 1870 15144 15830 40702)												0													135	112	120					1																	153658665		2203	4300	6503	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1747G>C	1.37:g.153658665G>C	ENSP00000357669:p.Glu583Gln		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.E583Q	ENST00000368680.3	37	c.1747	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503945	0.85176	.	.	ENSG00000169418	ENST00000368680	D	0.81579	-1.51	3.92	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.90776	0.7104	H	0.95187	3.635	0.80722	D	1	D	0.64830	0.994	D	0.71414	0.973	D	0.92592	0.6084	10	0.59425	D	0.04	.	13.8251	0.63346	0.0:0.0:1.0:0.0	.	583	P16066	ANPRA_HUMAN	Q	583	ENSP00000357669:E583Q	ENSP00000357669:E583Q	E	+	1	0	NPR1	151925289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.429000	0.97481	2.191000	0.70037	0.561000	0.74099	GAA	NPR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.542	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153658665	1	no_errors	ENST00000368680	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153658665	G	C	153658665	3	2	185	1	0	0	0	0	1	0	0	0	10618	1291	45	1	1785	1	NPR1	1	153658665	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1135	153658665	95591956	115	34390										
INTS3	65123	genome.wustl.edu	37	chr1	153735821	153735821	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccctgagggacaaagtactCcagctacagaaggggaggtg	14	9	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:153735821C>G	ENST00000318967.2	+	16	2317	c.1749C>G	c.(1747-1749)ctC>ctG	p.L583L	INTS3_ENST00000435409.2_Silent_p.L583L|INTS3_ENST00000512605.1_Silent_p.L377L|INTS3_ENST00000456435.1_Silent_p.L377L|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	584					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAAAGTACTCCAGCTACAGA	0.522																																																	0													122	117	119					1																	153735821		2203	4300	6503	SO:0001819	synonymous_variant	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1749C>G	1.37:g.153735821C>G			A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	pfam_Int_cplx_su3	p.L583	ENST00000318967.2	37	c.1749	CCDS1052.1	1																																																																																			INTS3	-	NULL		0.522	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	C	NM_023015		153735821	1	no_errors	ENST00000318967	ensembl	human	known	70_37	silent	SNP	0.999	G	G	153735821	C	G	153735821	2	3	185	1	0	0	0	0	0	0	0	1	7799	842	30	1		1	INTS3	1	153735821	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	77156	153735821	95514800	116	34391										
KCNN3	3782	genome.wustl.edu	37	chr1	154687435	154687435	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcagctttgtgtgtttataGattaaccatgtttcccgaag	9	7	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:154687435G>A	ENST00000271915.4	-	6	2061	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	KCNN3_ENST00000361147.4_Silent_p.I277I|KCNN3_ENST00000358505.2_Silent_p.I269I	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	587	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			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)		Miconazole(DB01110)|Procaine(DB00721)	TGTGTTTATAGATTAACCATG	0.418																																																	0													255	218	231					1																	154687435		2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1746C>T	1.37:g.154687435G>A			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.I582	ENST00000271915.4	37	c.1746	CCDS30880.1	1																																																																																			KCNN3	-	pfam_CaM-bd_dom,superfamily_CaM-bd_dom		0.418	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	G	NM_002249		154687435	-1	no_errors	ENST00000271915	ensembl	human	known	70_37	silent	SNP	1.000	A	A	154687435	G	A	154687435	2	1	185	1	0	0	0	0	0	0	0	1	8100	932	33	1		1	KCNN3	1	154687435	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	951614	154687435	94563186	117	34392										
PBXIP1	57326	genome.wustl.edu	37	chr1	154918210	154918210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcggtcatgacggaagatgCcatcctcaccaaagaaagca	11	11	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:154918210C>T	ENST00000368463.3	-	10	2011	c.1940G>A	c.(1939-1941)gGc>gAc	p.G647D	PBXIP1_ENST00000542459.1_Missense_Mutation_p.G492D|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Missense_Mutation_p.G618D|PBXIP1_ENST00000539880.1_Missense_Mutation_p.G474D	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	647					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGGAAGATGCCATCCTCACC	0.577																																																	0													100	89	92					1																	154918210		2203	4300	6503	SO:0001583	missense	57326			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1940G>A	1.37:g.154918210C>T	ENSP00000357448:p.Gly647Asp		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	NULL	p.G647D	ENST00000368463.3	37	c.1940	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289641	0.59976	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.29397	1.57;1.67;1.78;1.73	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.71581	2.175	0.52501	D	0.999956	D	0.89917	1.0	D	0.81914	0.995	T	0.47058	-0.9146	10	0.02654	T	1	-21.3108	12.1095	0.53831	0.0:0.8267:0.1733:0.0	.	647	Q96AQ6	PBIP1_HUMAN	D	618;647;578;474;423;492	ENSP00000357450:G618D;ENSP00000357448:G647D;ENSP00000440142:G474D;ENSP00000438584:G492D	ENSP00000295523:G578D	G	-	2	0	PBXIP1	153184834	0.995000	0.38212	0.945000	0.38365	0.741000	0.42261	3.852000	0.55934	2.445000	0.82738	0.455000	0.32223	GGC	PBXIP1	-	NULL		0.577	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	C	NM_020524		154918210	-1	no_errors	ENST00000368463	ensembl	human	known	70_37	missense	SNP	0.972	T	T	154918210	C	T	154918210	3	4	185	1	0	0	0	0	1	0	0	0	11520	739	26	4	263	4	PBXIP1	1	154918210	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	230775	154918210	94332411	118	34393										
ADAM15	8751	genome.wustl.edu	37	chr1	155030783	155030783	+	Missense_Mutation	SNP	A	A	T													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccagcctctgctgggctccAtccgggatctactctgggag							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155030783A>T	ENST00000356955.2	+	15	1884	c.1783A>T	c.(1783-1785)Atc>Ttc	p.I595F	ADAM15_ENST00000447332.3_Missense_Mutation_p.I579F|ADAM15_ENST00000368413.1_Missense_Mutation_p.I301F|ADAM15_ENST00000360674.4_Missense_Mutation_p.I595F|ADAM15_ENST00000368412.3_Missense_Mutation_p.I595F|ADAM15_ENST00000531455.1_Missense_Mutation_p.I605F|ADAM15_ENST00000355956.2_Missense_Mutation_p.I595F|ADAM15_ENST00000271836.6_Missense_Mutation_p.I595F|ADAM15_ENST00000368410.2_Missense_Mutation_p.I301F|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000359280.4_Missense_Mutation_p.I595F|ADAM15_ENST00000449910.2_Missense_Mutation_p.I595F	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	595	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTGGGCTCCATCCGGGATCT	0.602																																																	0													44	44	44					1																	155030783		2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1783A>T	1.37:g.155030783A>T	ENSP00000349436:p.Ile595Phe		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.I595F	ENST00000356955.2	37	c.1783	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	A	4.351	0.064542	0.08388	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.37	3.41	0.39046	ADAM, cysteine-rich (2);	0.700859	0.12284	N	0.482622	T	0.06325	0.0163	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.30634	0.213;0.213;0.192;0.127;0.27;0.288;0.288;0.178;0.001;0.213;0.213	B;B;B;B;B;B;B;B;B;B;B	0.37480	0.251;0.251;0.251;0.162;0.192;0.113;0.113;0.113;0.009;0.251;0.18	T	0.42378	-0.9455	10	0.10111	T	0.7	.	8.9887	0.36010	0.0824:0.149:0.7686:0.0	.	605;612;579;595;595;595;595;595;595;595;592	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	F	595;595;595;595;595;595;301;595;301;605	ENSP00000349436:I595F;ENSP00000403843:I595F;ENSP00000352226:I595F;ENSP00000353892:I595F;ENSP00000357397:I595F;ENSP00000348227:I595F;ENSP00000357395:I301F;ENSP00000271836:I595F;ENSP00000357398:I301F;ENSP00000432927:I605F	ENSP00000271836:I595F	I	+	1	0	ADAM15	153297407	0.712000	0.27916	0.002000	0.10522	0.004000	0.04260	3.984000	0.56923	0.819000	0.34492	-0.182000	0.12963	ATC	ADAM15	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.602	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	A	NM_003815		155030783	1	no_errors	ENST00000356955	ensembl	human	known	70_37	missense	SNP	0.004	T	T	155030783	A	T	155030783	3	4	185	1	0	0	0	0	1	0	0	0	237	217	8	5	1841	5	ADAM15	1	155030783	Missense_Mutation	SNP	A	TCGA-Q1-A73O-01A-11D-A32I-09	112573	155030783	94219838	119	34394	223	2								
ADAM15	8751	genome.wustl.edu	37	chr1	155030785	155030785	+	Silent	SNP	C	C	T													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagcctctgctgggctccatCcgggatctactctgggagac							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155030785C>T	ENST00000356955.2	+	15	1886	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	ADAM15_ENST00000447332.3_Silent_p.I579I|ADAM15_ENST00000368413.1_Silent_p.I301I|ADAM15_ENST00000360674.4_Silent_p.I595I|ADAM15_ENST00000368412.3_Silent_p.I595I|ADAM15_ENST00000531455.1_Silent_p.I605I|ADAM15_ENST00000355956.2_Silent_p.I595I|ADAM15_ENST00000271836.6_Silent_p.I595I|ADAM15_ENST00000368410.2_Silent_p.I301I|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000359280.4_Silent_p.I595I|ADAM15_ENST00000449910.2_Silent_p.I595I	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	595	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGGCTCCATCCGGGATCTAC	0.597																																																	0													45	45	45					1																	155030785		2203	4300	6503	SO:0001819	synonymous_variant	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1785C>T	1.37:g.155030785C>T			B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.I595	ENST00000356955.2	37	c.1785	CCDS1087.1	1																																																																																			ADAM15	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.597	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	C	NM_003815		155030785	1	no_errors	ENST00000356955	ensembl	human	known	70_37	silent	SNP	0.001	T	T	155030785	C	T	155030785	2	4	185	1	0	0	0	0	0	0	0	1	237	845	30	1		1	ADAM15	1	155030785	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2	155030785	94219836	120	34395	223	2								
CLK2	1196	genome.wustl.edu	37	chr1	155239463	155239463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtctgtagctgccacagtatCgccggtcatacaccctccgg	10	15	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155239463C>T	ENST00000368361.4	-	3	530	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000361168.5_Missense_Mutation_p.R72Q|CLK2_ENST00000355560.4_Missense_Mutation_p.R71Q|CLK2_ENST00000536801.1_Missense_Mutation_p.R72Q			P49760	CLK2_HUMAN	CDC-like kinase 2	72					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCACAGTATCGCCGGTCATA	0.488								Other conserved DNA damage response genes																																									0													137	123	128					1																	155239463		2203	4300	6503	SO:0001583	missense	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.215G>A	1.37:g.155239463C>T	ENSP00000357345:p.Arg72Gln		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R72Q	ENST00000368361.4	37	c.215		1	.	.	.	.	.	.	.	.	.	.	.	16.27	3.076571	0.55753	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.55234	0.54;0.53;0.54;0.53	4.91	4.0	0.46444	.	0.118034	0.56097	N	0.000032	T	0.36220	0.0959	M	0.66297	2.02	0.42842	D	0.994057	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.46470	-0.9189	10	0.72032	D	0.01	.	12.1412	0.53998	0.0:0.9163:0.0:0.0837	.	72;72	P49760;P49760-3	CLK2_HUMAN;.	Q	72;72;71;72	ENSP00000354856:R72Q;ENSP00000357345:R72Q;ENSP00000347759:R71Q;ENSP00000441023:R72Q	ENSP00000347759:R71Q	R	-	2	0	CLK2	153506087	1.000000	0.71417	0.996000	0.52242	0.904000	0.53231	5.622000	0.67750	1.311000	0.45024	-0.145000	0.13849	CGA	CLK2	-	NULL		0.488	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	C	NM_003993		155239463	-1	no_errors	ENST00000368361	ensembl	human	known	70_37	missense	SNP	0.996	T	T	155239463	C	T	155239463	3	4	185	1	0	0	0	0	1	0	0	0	3542	884	31	1	1325	1	CLK2	1	155239463	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	208678	155239463	94011158	121	34396										
FDPS	2224	genome.wustl.edu	37	chr1	155288527	155288527	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagggcaatgtggatcttgtCagattcactgaaaagaggtg	13	6	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155288527C>T	ENST00000356657.6	+	7	918	c.756C>T	c.(754-756)gtC>gtT	p.V252V	RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000368356.4_Silent_p.V252V|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000447866.1_Silent_p.V186V|RUSC1_ENST00000368354.3_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	252					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TGGATCTTGTCAGATTCACTG	0.562																																																	0													69	68	68					1																	155288527		2203	4300	6503	SO:0001819	synonymous_variant	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.756C>T	1.37:g.155288527C>T			D3DV91|E9PCI9|Q96G29	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.V252	ENST00000356657.6	37	c.756	CCDS1110.1	1																																																																																			FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.562	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155288527	1	no_errors	ENST00000356657	ensembl	human	known	70_37	silent	SNP	0.805	T	T	155288527	C	T	155288527	2	4	185	1	0	0	0	0	0	0	0	1	5821	813	29	1		1	FDPS	1	155288527	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	49064	155288527	93962094	122	34397										
FDPS	2224	genome.wustl.edu	37	chr1	155290320	155290320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttacagccacattatggctCtcattgaacagtacgcagca	8	11	1	1	rs375219975		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155290320C>G	ENST00000356657.6	+	11	1342	c.1180C>G	c.(1180-1182)Ctc>Gtc	p.L394V	RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000368356.4_Missense_Mutation_p.L394V|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.L328V|RUSC1_ENST00000368354.3_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	394					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CATTATGGCTCTCATTGAACA	0.547																																																	0													61	57	58					1																	155290320		2203	4300	6503	SO:0001583	missense	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1180C>G	1.37:g.155290320C>G	ENSP00000349078:p.Leu394Val		D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.L394V	ENST00000356657.6	37	c.1180	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	7.885	0.731158	0.15507	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.63913	-0.07;-0.07;-0.07	3.24	3.24	0.37175	Terpenoid synthase (2);	0.000000	0.33199	N	0.005165	T	0.55016	0.1894	M	0.89904	3.07	0.47905	D	0.999547	B	0.33477	0.413	B	0.36885	0.235	T	0.60047	-0.7339	10	0.17832	T	0.49	-5.9895	12.356	0.55176	0.0:1.0:0.0:0.0	.	394	P14324	FPPS_HUMAN	V	328;394;394	ENSP00000391755:L328V;ENSP00000357340:L394V;ENSP00000349078:L394V	ENSP00000349078:L394V	L	+	1	0	FDPS	153556944	1.000000	0.71417	0.037000	0.18230	0.012000	0.07955	6.716000	0.74702	2.111000	0.64477	0.462000	0.41574	CTC	FDPS	-	superfamily_Terpenoid_synth		0.547	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155290320	1	no_errors	ENST00000356657	ensembl	human	known	70_37	missense	SNP	0.992	G	G	155290320	C	G	155290320	3	3	185	1	0	0	0	0	1	0	0	0	5821	913	32	1	1218	1	FDPS	1	155290320	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1793	155290320	93960301	123	34398										
ARHGEF2	9181	genome.wustl.edu	37	chr1	155917797	155917797	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctccgggatgtcctgcattCtggtaaagtctgaaggggga	14	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:155917797C>G	ENST00000361247.4	-	22	2996	c.2897G>C	c.(2896-2898)aGa>aCa	p.R966T	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R938T|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R938T|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R967T|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R1011T|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R965T|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	966					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCCTGCATTCTGGTAAAGTC	0.617																																					Melanoma(178;35 2768 6610 28839)												0													12	10	11					1																	155917797		1946	3697	5643	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2897G>C	1.37:g.155917797C>G	ENSP00000354837:p.Arg966Thr		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R967T	ENST00000361247.4	37	c.2900	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416528	0.83449	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.72615	-0.66;-0.55;-0.56;-0.66;-0.67	5.22	5.22	0.72569	.	0.000000	0.39615	N	0.001303	T	0.68007	0.2954	N	0.19112	0.55	0.33156	D	0.546329	D;D;D;D	0.61080	0.981;0.981;0.989;0.981	D;D;D;D	0.72625	0.966;0.95;0.978;0.95	T	0.73547	-0.3948	10	0.87932	D	0	-6.8905	16.3224	0.82956	0.0:1.0:0.0:0.0	.	1010;966;965;967	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	T	938;966;967;938;965	ENSP00000315325:R938T;ENSP00000354837:R966T;ENSP00000357298:R967T;ENSP00000357299:R938T;ENSP00000314787:R965T	ENSP00000314787:R965T	R	-	2	0	ARHGEF2	154184421	1.000000	0.71417	0.993000	0.49108	0.886000	0.51366	4.261000	0.58841	2.713000	0.92767	0.655000	0.94253	AGA	ARHGEF2	-	NULL		0.617	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	C	NM_004723		155917797	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	missense	SNP	0.996	G	G	155917797	C	G	155917797	3	3	185	1	0	0	0	0	1	0	0	0	903	913	32	1	67	1	ARHGEF2	1	155917797	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	627477	155917797	93332824	124	34399										
SLC25A44	9673	genome.wustl.edu	37	chr1	156169884	156169884	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggttcctggtcaataccttCaccctcatctctggccagtg	9	14	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:156169884C>T	ENST00000359511.4	+	2	418	c.246C>T	c.(244-246)ttC>ttT	p.F82F	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Silent_p.F82F	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	82					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TCAATACCTTCACCCTCATCT	0.522																																																	0													115	106	109					1																	156169884		2203	4300	6503	SO:0001819	synonymous_variant	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.246C>T	1.37:g.156169884C>T			O75034	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.F82	ENST00000359511.4	37	c.246	CCDS1133.1	1																																																																																			SLC25A44	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.522	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	C	NM_014655		156169884	1	no_errors	ENST00000359511	ensembl	human	known	70_37	silent	SNP	0.999	T	T	156169884	C	T	156169884	2	4	185	1	0	0	0	0	0	0	0	1	14539	825	29	1		1	SLC25A44	1	156169884	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	252087	156169884	93080737	125	34400										
PAQR6	79957	genome.wustl.edu	37	chr1	156214007	156214007	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcccgaagcagggtggctgtGaaagcagcaataatgagtag	15	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:156214007G>A	ENST00000292291.5	-	8	1106	c.948C>T	c.(946-948)ttC>ttT	p.F316F	PAQR6_ENST00000335852.1_Missense_Mutation_p.S234L|PAQR6_ENST00000540423.1_Silent_p.F313F|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_Silent_p.F292F|PAQR6_ENST00000356983.2_Missense_Mutation_p.S234L	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	316						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GGGTGGCTGTGAAAGCAGCAA	0.642																																					GBM(16;219 398 12385 32425 38531)												0													42	42	42					1																	156214007		2203	4300	6503	SO:0001819	synonymous_variant	79957			AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.948C>T	1.37:g.156214007G>A			B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	pfam_HlyIII-related	p.S234L	ENST00000292291.5	37	c.701	CCDS1136.1	1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064198	0.36373	.	.	ENSG00000160781	ENST00000360733;ENST00000335852;ENST00000356983	T;T;T	0.38240	1.15;1.15;1.15	4.71	2.79	0.32731	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.80722	D	1	P;B;B	0.37207	0.587;0.38;0.233	B;B;B	0.36608	0.229;0.183;0.104	T	0.05533	-1.0879	8	0.59425	D	0.04	-3.3457	9.1586	0.37007	0.1862:0.0:0.8138:0.0	.	166;94;234	B4DJ42;Q7Z4Q8;Q6TCH4-2	.;.;.	L	234	ENSP00000353961:S234L;ENSP00000338330:S234L;ENSP00000349474:S234L	ENSP00000338330:S234L	S	-	2	0	PAQR6	154480631	1.000000	0.71417	0.980000	0.43619	0.117000	0.20001	2.554000	0.45845	1.219000	0.43474	0.462000	0.41574	TCA	PAQR6	-	NULL		0.642	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAQR6	HGNC	protein_coding	OTTHUMT00000046297.2	G	NM_024897		156214007	-1	no_errors	ENST00000335852	ensembl	human	known	70_37	missense	SNP	1.000	A	A	156214007	G	A	156214007	2	1	185	1	0	0	0	0	0	0	0	1	11463	1294	45	1		1	PAQR6	1	156214007	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	44123	156214007	93036614	126	34401										
CCT3	7203	genome.wustl.edu	37	chr1	156290680	156290680	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatctctttccgaccattctCctcaaactgtaccatcttga	3	14	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:156290680C>A	ENST00000295688.3	-	7	839	c.559G>T	c.(559-561)Gag>Tag	p.E187*	CCT3_ENST00000472765.2_Nonsense_Mutation_p.E142*|CCT3_ENST00000368259.2_Nonsense_Mutation_p.E149*|CCT3_ENST00000368261.3_Nonsense_Mutation_p.E142*	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	187					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CGACCATTCTCCTCAAACTGT	0.393																																																	0													271	256	261					1																	156290680		2203	4300	6503	SO:0001587	stop_gained	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.559G>T	1.37:g.156290680C>A	ENSP00000295688:p.Glu187*		A6NE14|Q5SZY1|Q9BR64	Nonsense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma	p.E187*	ENST00000295688.3	37	c.559	CCDS1140.2	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267630	0.80469	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000533194;ENST00000446905	.	.	.	5.94	5.94	0.96194	.	0.056850	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-25.4636	15.8617	0.79026	0.0:1.0:0.0:0.0	.	.	.	.	X	187;149;142;142;211;186;108;173	.	ENSP00000295688:E187X	E	-	1	0	CCT3	154557304	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.818000	0.97014	0.637000	0.83480	GAG	CCT3	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma		0.393	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	HGNC	protein_coding	OTTHUMT00000060602.3	C	NM_005998		156290680	-1	no_errors	ENST00000295688	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	156290680	C	A	156290680	4	1	185	1	0	0	0	0	0	1	0	0	2959	864	30	3	1110	3	CCT3	1	156290680	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	76673	156290680	92959941	127	34402										
COPA	1314	genome.wustl.edu	37	chr1	160261692	160261692	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggacaaacccacaatgtactCacggcaaatggtgatgagct	10	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:160261692C>T	ENST00000241704.7	-	30	3404	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	COPA_ENST00000368069.3_Missense_Mutation_p.E1068K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1059					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAATGTACTCACGGCAAATG	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													202	203	203					1																	160261692		2203	4300	6503	SO:0001583	missense	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3175G>A	1.37:g.160261692C>T	ENSP00000241704:p.Glu1059Lys	1807	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E1068K	ENST00000241704.7	37	c.3202	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.783166	0.96937	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60040	0.22;0.22	6.17	6.17	0.99709	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81912	0.4923	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.85428	0.1147	10	0.87932	D	0	-30.1211	19.4432	0.94831	0.0:1.0:0.0:0.0	.	1059;1068	P53621;P53621-2	COPA_HUMAN;.	K	1068;1059	ENSP00000357048:E1068K;ENSP00000241704:E1059K	ENSP00000241704:E1059K	E	-	1	0	COPA	158528316	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.604000	0.82830	2.941000	0.99782	0.655000	0.94253	GAG	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu		0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	C	NM_004371		160261692	-1	no_errors	ENST00000368069	ensembl	human	known	70_37	missense	SNP	1.000	T	T	160261692	C	T	160261692	3	4	185	1	0	0	0	0	1	0	0	0	3732	835	29	1	515	1	COPA	1	160261692	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3971012	160261692	88988929	128	34403										
TOMM40L	84134	genome.wustl.edu	37	chr1	161198547	161198547	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggcaaacacaaggctacaaGacacaacattctcctttggt	7	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:161198547G>C	ENST00000367988.3	+	9	996	c.727G>C	c.(727-729)Gac>Cac	p.D243H	NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000545897.1_Missense_Mutation_p.D209H|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Missense_Mutation_p.D243H	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	243					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGGCTACAAGACACAACATT	0.488																																																	0													127	107	114					1																	161198547		2203	4300	6503	SO:0001583	missense	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.727G>C	1.37:g.161198547G>C	ENSP00000356967:p.Asp243His		B7Z4U0|D3DVG9	Missense_Mutation	SNP	pfam_Porin_Euk	p.D243H	ENST00000367988.3	37	c.727	CCDS1227.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518918	0.85495	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.45668	0.89;0.89;0.89	5.63	5.63	0.86233	.	0.048391	0.85682	D	0.000000	T	0.50188	0.1601	L	0.46819	1.47	0.34113	D	0.663242	P;D;P	0.64830	0.953;0.994;0.953	D;D;D	0.64687	0.928;0.928;0.928	T	0.50742	-0.8792	9	0.87932	D	0	-20.6598	17.5205	0.87786	0.0:0.0:1.0:0.0	.	209;125;243	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	H	243;209;145;243	ENSP00000356967:D243H;ENSP00000443233:D209H;ENSP00000356966:D243H	ENSP00000356966:D243H	D	+	1	0	TOMM40L	159465171	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.334000	0.96470	2.802000	0.96397	0.561000	0.74099	GAC	TOMM40L	-	pfam_Porin_Euk		0.488	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	G	NM_032174		161198547	1	no_errors	ENST00000367987	ensembl	human	known	70_37	missense	SNP	1.000	C	C	161198547	G	C	161198547	3	2	185	1	0	0	0	0	1	0	0	0	16389	942	33	1	757	1	TOMM40L	1	161198547	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	936855	161198547	88052074	129	34404										
ALDH9A1	223	genome.wustl.edu	37	chr1	165667639	165667639	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctggctcgaaagctttctCggtaccggaggcgtccgccg	14	13	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:165667639C>G	ENST00000354775.4	-	1	461	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ALDH9A1_ENST00000538148.1_5'Flank|ALDH9A1_ENST00000461664.1_5'UTR|RP11-466F5.6_ENST00000400982.2_RNA	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	29					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAAGCTTTCTCGGTACCGGAG	0.701																																					Ovarian(179;1583 2014 18106 33801 42447)												0													15	21	19					1																	165667639		2178	4250	6428	SO:0001583	missense	223			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.157G>C	1.37:g.165667639C>G	ENSP00000346827:p.Glu53Gln		B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.E53Q	ENST00000354775.4	37	c.157	CCDS1250.2	1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158264	0.38119	.	.	ENSG00000143149	ENST00000354775	T	0.75704	-0.96	4.69	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	N	0.17723	0.515	0.45852	D	0.998711	P	0.40731	0.728	B	0.30401	0.115	T	0.41179	-0.9523	9	0.87932	D	0	.	9.1746	0.37105	0.0:0.8963:0.0:0.1037	.	53	B9EKV4	.	Q	53	ENSP00000346827:E53Q	ENSP00000346827:E53Q	E	-	1	0	ALDH9A1	163934263	0.998000	0.40836	0.994000	0.49952	0.597000	0.36814	3.513000	0.53414	0.930000	0.37217	0.655000	0.94253	GAG	ALDH9A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.701	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	HGNC	protein_coding	OTTHUMT00000083899.1	C			165667639	-1	no_errors	ENST00000354775	ensembl	human	known	70_37	missense	SNP	0.994	G	G	165667639	C	G	165667639	3	3	185	1	0	0	0	0	1	0	0	0	506	893	31	1	1443	1	ALDH9A1	1	165667639	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4469092	165667639	83582982	130	34405										
DUSP27	92235	genome.wustl.edu	37	chr1	167095628	167095628	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaggaggagaaggaggaggaGagcgacgctggctcctcggt	20	7	0	2	rs373269072		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:167095628G>C	ENST00000361200.2	+	6	1426	c.1260G>C	c.(1258-1260)gaG>gaC	p.E420D	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E420D|DUSP27_ENST00000443333.1_Missense_Mutation_p.E420D			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	420					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						aggaggaggagAGCGACGCTG	0.657																																																	0								G	ASP/GLU	1,4347		0,1,2173	28	20	23		1260	1.6	0	1		23	0,8526		0,0,4263	no	missense	DUSP27	NM_001080426.1	45	0,1,6436	CC,CG,GG		0.0,0.023,0.0078	benign	420/1159	167095628	1,12873	2174	4263	6437	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1260G>C	1.37:g.167095628G>C	ENSP00000354483:p.Glu420Asp		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.E420D	ENST00000361200.2	37	c.1260	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.116050	0.08831	2.3E-4	0.0	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04156	3.69;3.69;3.69	4.64	1.61	0.23674	.	4.460340	0.00465	N	0.000115	T	0.01421	0.0046	L	0.27053	0.805	0.19775	N	0.999953	B	0.09022	0.002	B	0.10450	0.005	T	0.44528	-0.9322	10	0.34782	T	0.22	-3.9346	7.6283	0.28224	0.0:0.2557:0.3035:0.4408	.	420	Q5VZP5	DUS27_HUMAN	D	420	ENSP00000354483:E420D;ENSP00000271385:E420D;ENSP00000404874:E420D	ENSP00000271385:E420D	E	+	3	2	DUSP27	165362252	0.313000	0.24554	0.021000	0.16686	0.050000	0.14768	1.030000	0.30153	0.148000	0.19059	-0.228000	0.12330	GAG	DUSP27	-	NULL		0.657	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	G	NM_001080426		167095628	1	no_errors	ENST00000271385	ensembl	human	known	70_37	missense	SNP	0.007	C	C	167095628	G	C	167095628	3	2	185	1	0	0	0	0	1	0	0	0	4834	933	33	1	1278	1	DUSP27	1	167095628	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1427989	167095628	82154993	131	34406										
RCSD1	92241	genome.wustl.edu	37	chr1	167673909	167673909	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccctgttcacaggatgacacTcctgtccaggacactaaaat	7	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:167673909T>C	ENST00000367854.3	+	7	1558	c.1227T>C	c.(1225-1227)acT>acC	p.T409T	RCSD1_ENST00000537350.1_Silent_p.T379T	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	409					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AGGATGACACTCCTGTCCAGG	0.473																																																	0													127	112	117					1																	167673909		2203	4300	6503	SO:0001819	synonymous_variant	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.1227T>C	1.37:g.167673909T>C			B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	pfam_RCSD	p.T409	ENST00000367854.3	37	c.1227	CCDS1263.1	1																																																																																			RCSD1	-	NULL		0.473	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	T	NM_052862		167673909	1	no_errors	ENST00000367854	ensembl	human	known	70_37	silent	SNP	0.000	C	C	167673909	T	C	167673909	2	2	185	1	0	0	0	0	0	0	0	1	13215	1538	54	5		5	RCSD1	1	167673909	Silent	SNP	T	TCGA-Q1-A73O-01A-11D-A32I-09	578281	167673909	81576712	132	34407										
ADCY10	55811	genome.wustl.edu	37	chr1	167823649	167823649	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gactccgtttgttggaaaacGagtacctcatgatgttccag	10	9	1	1	rs143102400		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:167823649G>C	ENST00000367851.4	-	18	2434	c.2250C>G	c.(2248-2250)ctC>ctG	p.L750L	ADCY10_ENST00000367848.1_Silent_p.L658L|ADCY10_ENST00000545172.1_Silent_p.L597L	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	750					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTTGGAAAACGAGTACCTCAT	0.443																																																	0													163	152	156					1																	167823649		2203	4300	6503	SO:0001819	synonymous_variant	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2250C>G	1.37:g.167823649G>C			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.L750	ENST00000367851.4	37	c.2250	CCDS1265.1	1																																																																																			ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167823649	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	silent	SNP	0.000	C	C	167823649	G	C	167823649	2	2	185	1	0	0	0	0	0	0	0	1	293	1045	37	1		1	ADCY10	1	167823649	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	149740	167823649	81426972	133	34408										
PRRX1	5396	genome.wustl.edu	37	chr1	170695370	170695370	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caatcctccaggtgtggtttCagaaccgaagagccaagttc	10	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:170695370C>T	ENST00000239461.6	+	3	740	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	PRRX1_ENST00000367760.3_Nonsense_Mutation_p.Q143*|PRRX1_ENST00000497230.2_Nonsense_Mutation_p.Q143*|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	143					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTGTGGTTTCAGAACCGAAG	0.453																																																	0													52	50	51					1																	170695370		2203	4300	6503	SO:0001587	stop_gained	5396			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.427C>T	1.37:g.170695370C>T	ENSP00000239461:p.Gln143*		B5BUM7|O60807	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.Q143*	ENST00000239461.6	37	c.427	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.104648	0.98066	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230	.	.	.	5.63	4.72	0.59763	.	0.177137	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.3988	0.60870	0.0:0.9237:0.0:0.0763	.	.	.	.	X	143	.	ENSP00000239461:Q143X	Q	+	1	0	PRRX1	168961994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.451000	0.60047	1.375000	0.46248	0.650000	0.86243	CAG	PRRX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.453	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	C	NM_006902		170695370	1	no_errors	ENST00000239461	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	170695370	C	T	170695370	4	4	185	1	0	0	0	0	0	1	0	0	12639	827	29	1	437	1	PRRX1	1	170695370	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2871721	170695370	78555251	134	34409										
DARS2	55157	genome.wustl.edu	37	chr1	173808631	173808631	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcctactatgacttttgctGaggtgctggccacctatgga	10	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:173808631G>A	ENST00000361951.4	+	10	1694	c.967G>A	c.(967-969)Gag>Aag	p.E323K	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	323					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GACTTTTGCTGAGGTGCTGGC	0.453																																																	0													159	144	149					1																	173808631		2203	4300	6503	SO:0001583	missense	55157			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.967G>A	1.37:g.173808631G>A	ENSP00000355086:p.Glu323Lys			Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt	p.E323K	ENST00000361951.4	37	c.967	CCDS1311.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953588	0.73902	.	.	ENSG00000117593	ENST00000361951	D	0.87029	-2.2	5.23	5.23	0.72850	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.099399	0.64402	D	0.000002	D	0.90147	0.6921	M	0.88775	2.98	0.80722	D	1	P	0.50528	0.936	P	0.48304	0.573	D	0.92267	0.5822	10	0.87932	D	0	-19.5492	17.5727	0.87939	0.0:0.0:1.0:0.0	.	323	Q6PI48	SYDM_HUMAN	K	323	ENSP00000355086:E323K	ENSP00000355086:E323K	E	+	1	0	DARS2	172075254	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	6.133000	0.71682	2.449000	0.82847	0.591000	0.81541	GAG	DARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-ligase_IIb_bac/mt		0.453	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS2	HGNC	protein_coding	OTTHUMT00000084220.1	G	NM_018122		173808631	1	no_errors	ENST00000361951	ensembl	human	known	70_37	missense	SNP	1.000	A	A	173808631	G	A	173808631	3	1	185	1	0	0	0	0	1	0	0	0	4247	1291	45	1	1005	1	DARS2	1	173808631	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3113261	173808631	75441990	135	34410										
PAPPA2	60676	genome.wustl.edu	37	chr1	176758970	176758970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcctgaagatacaatgcctgGaaggtggaatctgggagcaa	13	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:176758970G>A	ENST00000367662.3	+	18	5905	c.4741G>A	c.(4741-4743)Gaa>Aaa	p.E1581K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1581	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACAATGCCTGGAAGGTGGAAT	0.448																																																	0													83	82	82					1																	176758970		1936	4133	6069	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4741G>A	1.37:g.176758970G>A	ENSP00000356634:p.Glu1581Lys		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.E1581K	ENST00000367662.3	37	c.4741	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989166	0.74589	.	.	ENSG00000116183	ENST00000367662	T	0.64803	-0.12	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.114024	0.64402	D	0.000017	T	0.66117	0.2757	M	0.69823	2.125	0.80722	D	1	P	0.36837	0.571	B	0.39935	0.314	T	0.67787	-0.5580	10	0.48119	T	0.1	-15.9129	16.6377	0.85063	0.0:0.0:1.0:0.0	.	1581	Q9BXP8	PAPP2_HUMAN	K	1581	ENSP00000356634:E1581K	ENSP00000356634:E1581K	E	+	1	0	PAPPA2	175025593	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	6.743000	0.74848	2.651000	0.90000	0.650000	0.86243	GAA	PAPPA2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.448	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176758970	1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	0.999	A	A	176758970	G	A	176758970	3	1	185	1	0	0	0	0	1	0	0	0	11457	1175	41	1	4860	1	PAPPA2	1	176758970	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2950339	176758970	72491651	136	34411										
ASTN1	460	genome.wustl.edu	37	chr1	176838140	176838140	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actagtgtagccattgaagaGattgtagatcttgtctgcta	10	6	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:176838140G>C	ENST00000367654.3	-	22	3722	c.3511C>G	c.(3511-3513)Ctc>Gtc	p.L1171V	ASTN1_ENST00000424564.2_Missense_Mutation_p.L1163V|ASTN1_ENST00000361833.2_Missense_Mutation_p.L1163V|ASTN1_ENST00000367657.3_Missense_Mutation_p.L1163V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1171					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCATTGAAGAGATTGTAGATC	0.398																																																	0													130	117	122					1																	176838140		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3511C>G	1.37:g.176838140G>C	ENSP00000356626:p.Leu1171Val		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.L1171V	ENST00000367654.3	37	c.3511		1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485318	0.84854	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.27720	1.65;2.06;2.06;1.66	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.77557	0.99;0.986	T	0.54370	-0.8304	10	0.87932	D	0	-26.2491	19.4429	0.94831	0.0:0.0:1.0:0.0	.	1163;1163	O14525-2;B1AJS1	.;.	V	1163;1163;1171;1163;1163	ENSP00000356629:L1163V;ENSP00000354536:L1163V;ENSP00000356626:L1171V;ENSP00000395041:L1163V	ENSP00000354536:L1163V	L	-	1	0	ASTN1	175104763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.838000	0.86804	2.698000	0.92095	0.655000	0.94253	CTC	ASTN1	-	NULL		0.398	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		G	NM_004319		176838140	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	C	C	176838140	G	C	176838140	3	2	185	1	0	0	0	0	1	0	0	0	1065	942	33	1	409	1	ASTN1	1	176838140	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	79170	176838140	72412481	137	34412										
KIAA1614	57710	genome.wustl.edu	37	chr1	180907775	180907775	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctccctgtcctcagaggagtCagagtccagcaaggaatcag	11	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:180907775C>G	ENST00000367588.4	+	6	2901	c.2846C>G	c.(2845-2847)tCa>tGa	p.S949*	KIAA1614_ENST00000367587.1_Nonsense_Mutation_p.S570*	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	949	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCAGAGGAGTCAGAGTCCAGC	0.562																																																	0													73	80	78					1																	180907775		2179	4291	6470	SO:0001587	stop_gained	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2846C>G	1.37:g.180907775C>G	ENSP00000356560:p.Ser949*		Q5VZ45|Q9HCF8	Nonsense_Mutation	SNP	NULL	p.S949*	ENST00000367588.4	37	c.2846	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.111004	0.97291	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	.	.	.	4.78	3.87	0.44632	.	0.770342	0.12004	N	0.508598	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.0791	9.1272	0.36824	0.0:0.8978:0.0:0.1022	.	.	.	.	X	949;570	.	ENSP00000356559:S570X	S	+	2	0	KIAA1614	179174398	0.046000	0.20272	0.824000	0.32777	0.104000	0.19210	0.405000	0.21015	1.144000	0.42321	0.561000	0.74099	TCA	KIAA1614	-	NULL		0.562	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	C	XM_046531		180907775	1	no_errors	ENST00000367588	ensembl	human	known	70_37	nonsense	SNP	0.694	G	G	180907775	C	G	180907775	4	3	185	1	0	0	0	0	0	1	0	0	8268	838	29	1	2868	1	KIAA1614	1	180907775	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4069635	180907775	68342846	138	34413										
IER5	51278	genome.wustl.edu	37	chr1	181058848	181058848	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggaacgtggctaacctcatCagcatcttcggttccagttt	10	11	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:181058848C>T	ENST00000367577.4	+	1	1211	c.810C>T	c.(808-810)atC>atT	p.I270I	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	270										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CTAACCTCATCAGCATCTTCG	0.652																																																	0													38	38	38					1																	181058848		2202	4299	6501	SO:0001819	synonymous_variant	51278			BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.810C>T	1.37:g.181058848C>T			B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Silent	SNP	pfam_IER	p.I270	ENST00000367577.4	37	c.810	CCDS1343.1	1																																																																																			IER5	-	pfam_IER		0.652	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER5	HGNC	protein_coding	OTTHUMT00000085142.1	C	NM_016545		181058848	1	no_errors	ENST00000367577	ensembl	human	known	70_37	silent	SNP	0.991	T	T	181058848	C	T	181058848	2	4	185	1	0	0	0	0	0	0	0	1	7528	816	29	1		1	IER5	1	181058848	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	151073	181058848	68191773	139	34414										
HMCN1	83872	genome.wustl.edu	37	chr1	186050494	186050494	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccttgctagaagatgaccatCataaatttctatctaatgga	6	8	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:186050494C>T	ENST00000271588.4	+	56	8984	c.8755C>T	c.(8755-8757)Cat>Tat	p.H2919Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.H2919Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2919	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATGACCATCATAAATTTCT	0.383																																																	0													105	104	105					1																	186050494		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8755C>T	1.37:g.186050494C>T	ENSP00000271588:p.His2919Tyr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.H2919Y	ENST00000271588.4	37	c.8755	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454182	0.43634	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64438	-0.1;-0.1	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.137912	0.64402	D	0.000003	T	0.44138	0.1279	N	0.10972	0.075	0.42596	D	0.993263	P	0.40834	0.73	P	0.44860	0.462	T	0.46721	-0.9171	10	0.02654	T	1	.	13.3845	0.60789	0.0:0.9284:0.0:0.0716	.	2919	Q96RW7	HMCN1_HUMAN	Y	2919	ENSP00000271588:H2919Y;ENSP00000356462:H2919Y	ENSP00000271588:H2919Y	H	+	1	0	HMCN1	184317117	0.959000	0.32827	0.041000	0.18516	0.950000	0.60333	2.449000	0.44935	2.778000	0.95560	0.655000	0.94253	CAT	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		186050494	1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.746	T	T	186050494	C	T	186050494	3	4	185	1	0	0	0	0	1	0	0	0	7240	826	29	1	8977	1	HMCN1	1	186050494	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4991646	186050494	63200127	140	34415										
PRG4	10216	genome.wustl.edu	37	chr1	186275597	186275597	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acacaataaagtcagcacatCtcccaagatcacaacagcaa	4	13	3	1	rs113383997		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:186275597C>T	ENST00000445192.2	+	7	791	c.746C>T	c.(745-747)tCt>tTt	p.S249F	PRG4_ENST00000367483.4_Missense_Mutation_p.S208F|PRG4_ENST00000367484.3_Missense_Mutation_p.S208F|PRG4_ENST00000367486.3_Missense_Mutation_p.S206F|PRG4_ENST00000367485.4_Missense_Mutation_p.S156F	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	249					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GTCAGCACATCTCCCAAGATC	0.438																																																	0													263	247	253					1																	186275597		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.746C>T	1.37:g.186275597C>T	ENSP00000399679:p.Ser249Phe		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.S249F	ENST00000445192.2	37	c.746	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392408	0.25118	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.49720	3.31;3.55;0.77;3.54;3.4;3.53	3.97	3.97	0.46021	.	1.017600	0.07917	U	0.975240	T	0.54287	0.1849	L	0.44542	1.39	0.22629	N	0.998911	D;D;P;P	0.54207	0.965;0.965;0.875;0.924	P;P;B;P	0.51135	0.66;0.568;0.276;0.466	T	0.50939	-0.8768	10	0.52906	T	0.07	-0.0809	14.9856	0.71345	0.0:1.0:0.0:0.0	.	115;156;249;208	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	F	206;208;158;115;208;156;249	ENSP00000356456:S206F;ENSP00000356454:S208F;ENSP00000431330:S158F;ENSP00000356453:S208F;ENSP00000356455:S156F;ENSP00000399679:S249F	ENSP00000356452:S115F	S	+	2	0	PRG4	184542220	0.017000	0.18338	0.970000	0.41538	0.784000	0.44337	2.343000	0.44001	1.931000	0.55961	0.467000	0.42956	TCT	PRG4	-	NULL		0.438	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186275597	1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.923	T	T	186275597	C	T	186275597	3	4	185	1	0	0	0	0	1	0	0	0	12508	913	32	1	768	1	PRG4	1	186275597	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	225103	186275597	62975024	141	34416										
TPR	7175	genome.wustl.edu	37	chr1	186286656	186286656	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcctggctggtggaggggaGatctgactcatcagatgctt	14	8	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:186286656G>C	ENST00000367478.4	-	49	7194	c.6898C>G	c.(6898-6900)Ctc>Gtc	p.L2300V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2300					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTGGAGGGGAGATCTGACTCA	0.433			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													92	94	93					1																	186286656		1909	4122	6031	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6898C>G	1.37:g.186286656G>C	ENSP00000356448:p.Leu2300Val		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.L2300V	ENST00000367478.4	37	c.6898	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294953	0.81025	.	.	ENSG00000047410	ENST00000367478	T	0.24538	1.85	5.75	4.83	0.62350	.	0.066255	0.64402	D	0.000009	T	0.25232	0.0613	L	0.55103	1.725	0.48341	D	0.999631	P	0.38767	0.646	B	0.33121	0.158	T	0.08576	-1.0715	10	0.66056	D	0.02	.	15.1843	0.72986	0.0685:0.0:0.9315:0.0	.	2300	P12270	TPR_HUMAN	V	2300	ENSP00000356448:L2300V	ENSP00000356448:L2300V	L	-	1	0	TPR	184553279	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.325000	0.65869	2.716000	0.92895	0.655000	0.94253	CTC	TPR	-	NULL		0.433	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	G	NM_003292		186286656	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	C	C	186286656	G	C	186286656	3	2	185	1	0	0	0	0	1	0	0	0	16447	942	33	1	205	1	TPR	1	186286656	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11059	186286656	62963965	142	34417										
FAM5C	339479	genome.wustl.edu	37	chr1	190130001	190130001	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taattcataggtagccttttCataaataacttgaattcatc	4	7	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:190130001C>T	ENST00000367462.3	-	7	1212	c.981G>A	c.(979-981)atG>atA	p.M327I	BRINP3_ENST00000534846.1_Missense_Mutation_p.M225I	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	327					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTAGCCTTTTCATAAATAACT	0.289																																																	0													70	77	74					1																	190130001		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.981G>A	1.37:g.190130001C>T	ENSP00000356432:p.Met327Ile		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.M327I	ENST00000367462.3	37	c.981	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484276	0.63962	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.16897	2.58;2.31	5.75	5.75	0.90469	.	0.151595	0.64402	D	0.000013	T	0.26846	0.0657	L	0.39898	1.24	0.37754	D	0.926079	P;B	0.39044	0.656;0.028	P;B	0.48627	0.584;0.011	T	0.02184	-1.1199	10	0.62326	D	0.03	.	17.4294	0.87535	0.0:1.0:0.0:0.0	.	225;327	B7Z260;Q76B58	.;FAM5C_HUMAN	I	327;225	ENSP00000356432:M327I;ENSP00000438022:M225I	ENSP00000356432:M327I	M	-	3	0	FAM5C	188396624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.849000	0.48286	2.718000	0.92993	0.573000	0.79308	ATG	FAM5C	-	NULL		0.289	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	C	NM_199051		190130001	-1	no_errors	ENST00000367462	ensembl	human	known	70_37	missense	SNP	1.000	T	T	190130001	C	T	190130001	3	4	185	1	0	0	0	0	1	0	0	0	5612	826	29	1	1327	1	FAM5C	1	190130001	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3843345	190130001	59120620	143	34418										
ASPM	259266	genome.wustl.edu	37	chr1	197070687	197070687	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacaatactgcctatacattCtgtaggtgctttgtattacg	7	8	1	0	rs144999603		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:197070687C>T	ENST00000367409.4	-	18	7950	c.7694G>A	c.(7693-7695)aGa>aAa	p.R2565K	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2565					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCTATACATTCTGTAGGTGCT	0.333																																																	0													64	57	59					1																	197070687		2200	4297	6497	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7694G>A	1.37:g.197070687C>T	ENSP00000356379:p.Arg2565Lys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R2565K	ENST00000367409.4	37	c.7694	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585483	0.66105	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	D	0.82984	-1.67	5.15	3.28	0.37604	.	0.131525	0.52532	N	0.000076	D	0.91754	0.7392	M	0.92412	3.305	0.80722	D	1	P;D	0.69078	0.956;0.997	D;D	0.71184	0.949;0.972	D	0.91321	0.5082	10	0.46703	T	0.11	.	11.6401	0.51228	0.0:0.854:0.0:0.146	.	551;2565	E7EQ84;Q8IZT6	.;ASPM_HUMAN	K	2565;551	ENSP00000356379:R2565K	ENSP00000356376:R551K	R	-	2	0	ASPM	195337310	1.000000	0.71417	0.670000	0.29842	0.985000	0.73830	2.635000	0.46537	0.664000	0.31047	0.557000	0.71058	AGA	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197070687	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	missense	SNP	0.999	T	T	197070687	C	T	197070687	3	4	185	1	0	0	0	0	1	0	0	0	1057	913	32	1	2783	1	ASPM	1	197070687	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6940686	197070687	52179934	144	34419										
KIF14	9928	genome.wustl.edu	37	chr1	200522698	200522698	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcccagggtttcaacaaatCagggctttcttcagattcaa	7	10	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:200522698C>G	ENST00000367350.4	-	30	5203	c.4765G>C	c.(4765-4767)Gat>Cat	p.D1589H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1589	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCAACAAATCAGGGCTTTCT	0.398																																																	0													119	109	113					1																	200522698		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4765G>C	1.37:g.200522698C>G	ENSP00000356319:p.Asp1589His		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D1589H	ENST00000367350.4	37	c.4765	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333943	0.24253	.	.	ENSG00000118193	ENST00000367350	T	0.73789	-0.78	5.59	0.275	0.15659	.	1.746180	0.02744	N	0.116599	T	0.68026	0.2956	L	0.36672	1.1	0.09310	N	1	P	0.45902	0.868	P	0.44518	0.452	T	0.55296	-0.8163	10	0.46703	T	0.11	.	5.483	0.16733	0.0:0.4479:0.1344:0.4177	.	1589	Q15058	KIF14_HUMAN	H	1589	ENSP00000356319:D1589H	ENSP00000356319:D1589H	D	-	1	0	KIF14	198789321	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.609000	0.05635	-0.201000	0.10284	-0.140000	0.14226	GAT	KIF14	-	NULL		0.398	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	C	NM_014875		200522698	-1	no_errors	ENST00000367350	ensembl	human	known	70_37	missense	SNP	0.000	G	G	200522698	C	G	200522698	3	3	185	1	0	0	0	0	1	0	0	0	8296	826	29	1	185	1	KIF14	1	200522698	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3452011	200522698	48727923	145	34420										
IPO9	55705	genome.wustl.edu	37	chr1	201835972	201835972	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagttcagctcagaggtcctCaacctggtgatggagaccct	11	12	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:201835972C>G	ENST00000361565.4	+	15	1809	c.1740C>G	c.(1738-1740)ctC>ctG	p.L580L		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	580					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CAGAGGTCCTCAACCTGGTGA	0.522																																																	0													159	149	153					1																	201835972		2203	4300	6503	SO:0001819	synonymous_variant	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1740C>G	1.37:g.201835972C>G			B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L580	ENST00000361565.4	37	c.1740	CCDS1415.1	1																																																																																			IPO9	-	superfamily_ARM-type_fold		0.522	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	C	NM_018085		201835972	1	no_errors	ENST00000361565	ensembl	human	known	70_37	silent	SNP	1.000	G	G	201835972	C	G	201835972	2	3	185	1	0	0	0	0	0	0	0	1	7819	813	29	1		1	IPO9	1	201835972	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1313274	201835972	47414649	146	34421										
SHISA4	149345	genome.wustl.edu	37	chr1	201859683	201859683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcctgttgctacctgtaccGccggcgccagcagctccaga	10	16	0	1	rs367890261		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:201859683G>A	ENST00000362011.6	+	3	634	c.347G>A	c.(346-348)cGc>cAc	p.R116H	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	116						integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						TACCTGTACCGCCGGCGCCAG	0.572																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	166	155	159		347	5.2	1	1		159	0,8600		0,0,4300	no	missense	SHISA4	NM_198149.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	116/198	201859683	1,13005	2203	4300	6503	SO:0001583	missense	149345			AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"Shisa homologs"	27139	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 40", "transmembrane protein 58", "shisa homolog 4 (Xenopus laevis)"	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.347G>A	1.37:g.201859683G>A	ENSP00000355064:p.Arg116His		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Missense_Mutation	SNP	NULL	p.R116H	ENST00000362011.6	37	c.347	CCDS1416.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720940	0.89205	2.27E-4	0.0	ENSG00000198892	ENST00000362011	T	0.44083	0.93	5.25	5.25	0.73442	.	0.122536	0.64402	D	0.000015	T	0.54679	0.1873	L	0.55481	1.735	0.46167	D	0.998902	D	0.89917	1.0	D	0.68943	0.961	T	0.52268	-0.8598	10	0.40728	T	0.16	-11.27	9.872	0.41180	0.0934:0.0:0.9066:0.0	.	116	Q96DD7	SHSA4_HUMAN	H	116	ENSP00000355064:R116H	ENSP00000355064:R116H	R	+	2	0	SHISA4	200126306	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.714000	0.61902	2.454000	0.82982	0.491000	0.48974	CGC	SHISA4	-	NULL		0.572	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA4	HGNC	protein_coding	OTTHUMT00000087096.1	G	NM_198149		201859683	1	no_errors	ENST00000362011	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201859683	G	A	201859683	3	1	185	1	0	0	0	0	1	0	0	0	14312	1087	38	2	357	2	SHISA4	1	201859683	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	23711	201859683	47390938	147	34422										
ELF3	1999	genome.wustl.edu	37	chr1	201981119	201981119	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgggggaacagccccagttCtggtcgaagacgcaggttct	14	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:201981119C>G	ENST00000359651.3	+	2	3390	c.198C>G	c.(196-198)ttC>ttG	p.F66L	ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.F66L|ELF3_ENST00000367283.3_Missense_Mutation_p.F66L					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGCCCCAGTTCTGGTCGAAGA	0.572																																																	0													106	108	107					1																	201981119		2203	4300	6503	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.198C>G	1.37:g.201981119C>G	ENSP00000352673:p.Phe66Leu			Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.F66L	ENST00000359651.3	37	c.198	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	C	8.979	0.974921	0.18736	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.15	-0.806	0.10875	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.725103	0.10227	N	0.700137	T	0.14874	0.0359	N	0.11560	0.145	0.32548	N	0.532762	B	0.02656	0.0	B	0.04013	0.001	T	0.37934	-0.9684	10	0.06891	T	0.86	.	21.0947	0.99945	0.0:0.363:0.637:0.0	.	66	P78545	ELF3_HUMAN	L	66;66;66;66;64	ENSP00000352673:F66L;ENSP00000356253:F66L;ENSP00000356252:F66L;ENSP00000405162:F64L	ENSP00000311348:F66L	F	+	3	2	ELF3	200247742	0.915000	0.31059	0.973000	0.42090	0.544000	0.35116	0.509000	0.22707	-0.082000	0.12640	0.591000	0.81541	TTC	ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.572	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	C	NM_004433		201981119	1	no_errors	ENST00000359651	ensembl	human	known	70_37	missense	SNP	0.268	G	G	201981119	C	G	201981119	3	3	185	1	0	0	0	0	1	0	0	0	5067	912	32	1	204	1	ELF3	1	201981119	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	121436	201981119	47269502	148	34423										
LGR6	59352	genome.wustl.edu	37	chr1	202288144	202288144	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagtgaccctcatctcctgtCagcagccaggggcccccagg	11	17	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:202288144C>T	ENST00000367278.3	+	18	2802	c.2713C>T	c.(2713-2715)Cag>Tag	p.Q905*	LGR6_ENST00000255432.7_Nonsense_Mutation_p.Q853*|LGR6_ENST00000439764.2_Nonsense_Mutation_p.Q766*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	905					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATCTCCTGTCAGCAGCCAGG	0.607																																																	0													44	51	49					1																	202288144		2203	4300	6503	SO:0001587	stop_gained	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2713C>T	1.37:g.202288144C>T	ENSP00000356247:p.Gln905*		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.Q905*	ENST00000367278.3	37	c.2713	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.581215	0.97680	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	.	.	.	4.83	4.83	0.62350	.	0.296382	0.32548	N	0.005947	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	16.68	0.85289	0.0:1.0:0.0:0.0	.	.	.	.	X	905;853;766	.	ENSP00000255432:Q853X	Q	+	1	0	LGR6	200554767	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	4.825000	0.62708	2.688000	0.91661	0.485000	0.47835	CAG	LGR6	-	NULL		0.607	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	C	NM_021636		202288144	1	no_errors	ENST00000367278	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	202288144	C	T	202288144	4	4	185	1	0	0	0	0	0	1	0	0	8778	827	29	1	2930	1	LGR6	1	202288144	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	307025	202288144	46962477	149	34424										
ZC3H11A	9877	genome.wustl.edu	37	chr1	203821344	203821344	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcccttcctcatcccaaatGagcatgaaaactcgccgact	7	15	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:203821344G>A	ENST00000545588.1	+	17	6077	c.2250G>A	c.(2248-2250)atG>atA	p.M750I	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.M750I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.M750I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.M750I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.M750I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	750					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCCCAAATGAGCATGAAAA	0.488																																																	0													24	28	27					1																	203821344		2180	4264	6444	SO:0001583	missense	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2250G>A	1.37:g.203821344G>A	ENSP00000438527:p.Met750Ile		Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.M750I	ENST00000545588.1	37	c.2250	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	G	0	-2.740626	0.00088	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.56	2.66	0.31614	.	1.253910	0.05012	N	0.471217	T	0.27241	0.0668	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23013	-1.0200	10	0.35671	T	0.21	-31.6244	1.3244	0.02123	0.2256:0.1578:0.4535:0.1631	.	750	O75152	ZC11A_HUMAN	I	750;696;750;750;750;750	ENSP00000356183:M750I;ENSP00000356181:M750I;ENSP00000333253:M750I;ENSP00000438527:M750I;ENSP00000356179:M750I	ENSP00000333253:M750I	M	+	3	0	ZC3H11A	202087967	0.000000	0.05858	0.061000	0.19648	0.008000	0.06430	0.139000	0.16036	0.705000	0.31890	-0.310000	0.09108	ATG	ZC3H11A	-	NULL		0.488	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	G	NM_014827		203821344	1	no_errors	ENST00000332127	ensembl	human	known	70_37	missense	SNP	0.003	A	A	203821344	G	A	203821344	3	1	185	1	0	0	0	0	1	0	0	0	17590	1290	45	1	2312	1	ZC3H11A	1	203821344	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1533200	203821344	45429277	150	34425										
PIK3C2B	5287	genome.wustl.edu	37	chr1	204438303	204438303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acctcccagcacctcttcctCttctaggatccgatgctcta	5	17	4	0	rs144719096		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:204438303C>T	ENST00000367187.3	-	3	1184	c.628G>A	c.(628-630)Gag>Aag	p.E210K	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E210K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	210	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACCTCTTCCTCTTCTAGGATC	0.527																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	184	214	204		628	4.2	0.9	1	dbSNP_134	204	0,8600		0,0,4300	no	missense	PIK3C2B	NM_002646.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	210/1635	204438303	1,13005	2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.628G>A	1.37:g.204438303C>T	ENSP00000356155:p.Glu210Lys		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.E210K	ENST00000367187.3	37	c.628	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082873	0.36758	2.27E-4	0.0	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61742	0.08;0.16	5.14	4.2	0.49525	.	1.936550	0.02454	N	0.085865	T	0.47857	0.1468	N	0.24115	0.695	0.31809	N	0.627352	B;B	0.25272	0.122;0.075	B;B	0.22601	0.04;0.027	T	0.32613	-0.9900	10	0.12103	T	0.63	.	13.3569	0.60633	0.0:0.8415:0.1585:0.0	.	210;210	F5GWN5;O00750	.;P3C2B_HUMAN	K	210	ENSP00000356155:E210K;ENSP00000400561:E210K	ENSP00000356155:E210K	E	-	1	0	PIK3C2B	202704926	1.000000	0.71417	0.920000	0.36463	0.333000	0.28666	3.208000	0.51114	1.103000	0.41568	0.462000	0.41574	GAG	PIK3C2B	-	NULL		0.527	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	C	NM_002646		204438303	-1	no_errors	ENST00000367187	ensembl	human	known	70_37	missense	SNP	1.000	T	T	204438303	C	T	204438303	3	4	185	1	0	0	0	0	1	0	0	0	11934	922	32	1	4404	1	PIK3C2B	1	204438303	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	616959	204438303	44812318	151	34426										
LRRN2	10446	genome.wustl.edu	37	chr1	204588128	204588128	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccatctggggcaggtggtgGaaggcgcgggggtggatgaa	21	6	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:204588128G>C	ENST00000367175.1	-	1	3205	c.993C>G	c.(991-993)ttC>ttG	p.F331L	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.F331L|LRRN2_ENST00000367177.3_Missense_Mutation_p.F331L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	331					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCAGGTGGTGGAAGGCGCGGG	0.602																																																	0													71	58	62					1																	204588128		2203	4300	6503	SO:0001583	missense	10446			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.993C>G	1.37:g.204588128G>C	ENSP00000356143:p.Phe331Leu		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F331L	ENST00000367175.1	37	c.993	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209486	0.58343	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.67698	-0.28;-0.28;-0.28	5.69	4.77	0.60923	.	0.000000	0.45126	D	0.000387	T	0.72285	0.3441	L	0.37697	1.125	0.47476	D	0.999434	D	0.89917	1.0	D	0.91635	0.999	T	0.74284	-0.3715	10	0.87932	D	0	.	9.8171	0.40860	0.1599:0.0:0.8401:0.0	.	331	O75325	LRRN2_HUMAN	L	331	ENSP00000356144:F331L;ENSP00000356145:F331L;ENSP00000356143:F331L	ENSP00000356143:F331L	F	-	3	2	LRRN2	202854751	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.566000	0.60843	1.381000	0.46364	0.563000	0.77884	TTC	LRRN2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.602	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1	G	NM_006338		204588128	-1	no_errors	ENST00000367175	ensembl	human	known	70_37	missense	SNP	0.998	C	C	204588128	G	C	204588128	3	2	185	1	0	0	0	0	1	0	0	0	9058	1165	41	1	1152	1	LRRN2	1	204588128	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	149825	204588128	44662493	152	34427										
NUAK2	81788	genome.wustl.edu	37	chr1	205273176	205273176	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgggctcgcagggattgggCtgagctccggagggtcctcc	17	12	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:205273176C>G	ENST00000367157.3	-	7	1415	c.1289G>C	c.(1288-1290)aGc>aCc	p.S430T		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGGATTGGGCTGAGCTCCGG	0.622																																																	0													60	59	59					1																	205273176		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1289G>C	1.37:g.205273176C>G	ENSP00000356125:p.Ser430Thr			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S430T	ENST00000367157.3	37	c.1289	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.470932	0.01044	.	.	ENSG00000163545	ENST00000367157	T	0.72394	-0.65	4.84	2.78	0.32641	.	0.540330	0.17021	N	0.190124	T	0.52451	0.1735	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18999	-1.0319	10	0.13470	T	0.59	.	16.054	0.80782	0.0:0.6284:0.3715:0.0	.	430	Q9H093	NUAK2_HUMAN	T	430	ENSP00000356125:S430T	ENSP00000356125:S430T	S	-	2	0	NUAK2	203539799	0.000000	0.05858	0.345000	0.25642	0.073000	0.16967	0.048000	0.14078	1.014000	0.39417	0.407000	0.27541	AGC	NUAK2	-	NULL		0.622	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	C	NM_030952		205273176	-1	no_errors	ENST00000367157	ensembl	human	known	70_37	missense	SNP	0.005	G	G	205273176	C	G	205273176	3	3	185	1	0	0	0	0	1	0	0	0	10737	797	28	4	601	4	NUAK2	1	205273176	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	685048	205273176	43977445	153	34428										
NUAK2	81788	genome.wustl.edu	37	chr1	205275364	205275364	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acaatctctggcgaggcataGagggggctcccacagaatgt	13	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:205275364G>C	ENST00000367157.3	-	5	768	c.642C>G	c.(640-642)ctC>ctG	p.L214L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCGAGGCATAGAGGGGGCTCC	0.547																																																	0													105	103	104					1																	205275364		2203	4300	6503	SO:0001819	synonymous_variant	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.642C>G	1.37:g.205275364G>C				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L214	ENST00000367157.3	37	c.642	CCDS1453.1	1																																																																																			NUAK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.547	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	G	NM_030952		205275364	-1	no_errors	ENST00000367157	ensembl	human	known	70_37	silent	SNP	0.997	C	C	205275364	G	C	205275364	2	2	185	1	0	0	0	0	0	0	0	1	10737	929	33	1		1	NUAK2	1	205275364	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2188	205275364	43975257	154	34429										
NUAK2	81788	genome.wustl.edu	37	chr1	205275402	205275402	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtctgcaggaacttgccttGatggtagaggttggagagac	15	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:205275402G>C	ENST00000367157.3	-	5	730	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AACTTGCCTTGATGGTAGAGG	0.557																																																	0													118	113	115					1																	205275402		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.604C>G	1.37:g.205275402G>C	ENSP00000356125:p.Gln202Glu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q202E	ENST00000367157.3	37	c.604	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.095944	0.36952	.	.	ENSG00000163545	ENST00000367157	T	0.63913	-0.07	5.74	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.516058	0.16395	N	0.216315	T	0.34366	0.0895	N	0.04636	-0.2	0.25676	N	0.985847	B	0.24317	0.101	B	0.28916	0.096	T	0.31447	-0.9943	10	0.05959	T	0.93	.	8.1769	0.31287	0.0719:0.0:0.6347:0.2934	.	202	Q9H093	NUAK2_HUMAN	E	202	ENSP00000356125:Q202E	ENSP00000356125:Q202E	Q	-	1	0	NUAK2	203542025	0.905000	0.30787	1.000000	0.80357	0.996000	0.88848	1.594000	0.36697	0.709000	0.31976	0.655000	0.94253	CAA	NUAK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.557	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	G	NM_030952		205275402	-1	no_errors	ENST00000367157	ensembl	human	known	70_37	missense	SNP	0.938	C	C	205275402	G	C	205275402	3	2	185	1	0	0	0	0	1	0	0	0	10737	1299	45	1	1294	1	NUAK2	1	205275402	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	38	205275402	43975219	155	34430										
PLXNA2	5362	genome.wustl.edu	37	chr1	208219282	208219282	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccagtagggctaagcagttCaaaggtcgggttggggtagt	16	6	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:208219282C>T	ENST00000367033.3	-	18	4193	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1146	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTAAGCAGTTCAAAGGTCGGG	0.502																																																	0													154	150	151					1																	208219282		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3436G>A	1.37:g.208219282C>T	ENSP00000356000:p.Glu1146Lys		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1146K	ENST00000367033.3	37	c.3436	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.326368	0.95708	.	.	ENSG00000076356	ENST00000367033	T	0.76060	-0.99	4.6	4.6	0.57074	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86696	0.1926	10	0.36615	T	0.2	.	17.7875	0.88542	0.0:1.0:0.0:0.0	.	1146	O75051	PLXA2_HUMAN	K	1146	ENSP00000356000:E1146K	ENSP00000356000:E1146K	E	-	1	0	PLXNA2	206285905	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.496000	0.81526	2.262000	0.75019	0.563000	0.77884	GAA	PLXNA2	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.502	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	C	NM_025179		208219282	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	208219282	C	T	208219282	3	4	185	1	0	0	0	0	1	0	0	0	12144	835	29	1	2308	1	PLXNA2	1	208219282	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2943880	208219282	41031339	156	34431										
GPATCH2	55105	genome.wustl.edu	37	chr1	217688174	217688174	+	Missense_Mutation	SNP	G	G	T													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagtactcactcatggtgatGagaatccggggaaaaatgaa							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:217688174G>T	ENST00000366935.3	-	6	1266	c.1156C>A	c.(1156-1158)Cat>Aat	p.H386N		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	386					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCATGGTGATGAGAATCCGGG	0.353																																																	0													44	45	45					1																	217688174		2203	4300	6503	SO:0001583	missense	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1156C>A	1.37:g.217688174G>T	ENSP00000355902:p.His386Asn		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.H386N	ENST00000366935.3	37	c.1156	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317069	0.60524	.	.	ENSG00000092978	ENST00000366935	T	0.31510	1.49	5.95	5.95	0.96441	.	0.047302	0.85682	D	0.000000	T	0.41994	0.1183	M	0.63428	1.95	0.80722	D	1	D	0.53619	0.961	P	0.48270	0.572	T	0.06770	-1.0808	10	0.21540	T	0.41	-21.8907	20.4024	0.99000	0.0:0.0:1.0:0.0	.	386	Q9NW75	GPTC2_HUMAN	N	386	ENSP00000355902:H386N	ENSP00000355902:H386N	H	-	1	0	GPATCH2	215754797	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.052000	0.76634	2.827000	0.97445	0.650000	0.86243	CAT	GPATCH2	-	NULL		0.353	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	G	NM_018040		217688174	-1	no_errors	ENST00000366935	ensembl	human	known	70_37	missense	SNP	1.000	T	T	217688174	G	T	217688174	3	4	185	1	0	0	0	0	1	0	0	0	6610	1290	45	3	450	3	GPATCH2	1	217688174	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9468892	217688174	31562447	157	34432	224	2								
GPATCH2	55105	genome.wustl.edu	37	chr1	217688182	217688182	+	Missense_Mutation	SNP	G	G	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actcatggtgatgagaatccGgggaaaaatgaaccattctc							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:217688182G>A	ENST00000366935.3	-	6	1258	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	383					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		ATGAGAATCCGGGGAAAAATG	0.348																																																	0													46	46	46					1																	217688182		2203	4300	6503	SO:0001583	missense	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1148C>T	1.37:g.217688182G>A	ENSP00000355902:p.Pro383Leu		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.P383L	ENST00000366935.3	37	c.1148	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964408	0.53507	.	.	ENSG00000092978	ENST00000366935	T	0.31247	1.5	5.95	5.95	0.96441	.	0.106321	0.64402	D	0.000003	T	0.27629	0.0679	L	0.51422	1.61	0.80722	D	1	D	0.52996	0.957	B	0.39068	0.289	T	0.02933	-1.1092	10	0.25106	T	0.35	-25.4565	15.0324	0.71717	0.0:0.0:0.8247:0.1753	.	383	Q9NW75	GPTC2_HUMAN	L	383	ENSP00000355902:P383L	ENSP00000355902:P383L	P	-	2	0	GPATCH2	215754805	1.000000	0.71417	0.992000	0.48379	0.932000	0.56968	3.689000	0.54706	2.827000	0.97445	0.650000	0.86243	CCG	GPATCH2	-	NULL		0.348	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	G	NM_018040		217688182	-1	no_errors	ENST00000366935	ensembl	human	known	70_37	missense	SNP	0.991	A	A	217688182	G	A	217688182	3	1	185	1	0	0	0	0	1	0	0	0	6610	1116	39	2	458	2	GPATCH2	1	217688182	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	8	217688182	31562439	158	34433	224	2								
SLC30A10	55532	genome.wustl.edu	37	chr1	220091631	220091631	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgactccttttgggaccatCtgtagcagaatggcagcggt	12	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:220091631C>T	ENST00000366926.3	-	3	1085	c.924G>A	c.(922-924)caG>caA	p.Q308Q	SLC30A10_ENST00000536446.1_Silent_p.Q63Q|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	308					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TTGGGACCATCTGTAGCAGAA	0.463																																					Colon(76;360 1614 43677 51136)												0													146	150	149					1																	220091631		2203	4300	6503	SO:0001819	synonymous_variant	55532			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.924G>A	1.37:g.220091631C>T			Q49AL9|Q9NPW0	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.Q308	ENST00000366926.3	37	c.924	CCDS31026.1	1																																																																																			SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.463	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	C	NM_018713		220091631	-1	no_errors	ENST00000366926	ensembl	human	known	70_37	silent	SNP	1.000	T	T	220091631	C	T	220091631	2	4	185	1	0	0	0	0	0	0	0	1	14584	912	32	1		1	SLC30A10	1	220091631	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2403449	220091631	29158990	159	34434										
EPRS	2058	genome.wustl.edu	37	chr1	220206942	220206942	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gattgagttcattaattgtaGaagtaaaggaatcacatgaa	9	3	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:220206942G>A	ENST00000366923.3	-	4	559	c.290C>T	c.(289-291)tCt>tTt	p.S97F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	97					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATTAATTGTAGAAGTAAAGGA	0.358																																																	0													97	104	102					1																	220206942		2203	4299	6502	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.290C>T	1.37:g.220206942G>A	ENSP00000355890:p.Ser97Phe		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.S97F	ENST00000366923.3	37	c.290	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089538	0.36855	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.44482	0.92	6.16	6.16	0.99307	Glutathione S-transferase, C-terminal-like (2);	0.422640	0.28958	N	0.013596	T	0.40791	0.1131	M	0.71581	2.175	0.37111	D	0.900331	B;P	0.40266	0.02;0.71	B;B	0.30029	0.017;0.11	T	0.54470	-0.8289	10	0.56958	D	0.05	-22.734	14.9398	0.70983	0.0675:0.0:0.9325:0.0	.	97;97	Q3KQZ8;P07814	.;SYEP_HUMAN	F	97	ENSP00000355890:S97F	ENSP00000355890:S97F	S	-	2	0	EPRS	218273565	0.998000	0.40836	0.965000	0.40720	0.520000	0.34377	2.762000	0.47597	2.937000	0.99478	0.650000	0.86243	TCT	EPRS	-	superfamily_Glutathione-S-Trfase_C-like		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220206942	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	0.593	A	A	220206942	G	A	220206942	3	1	185	1	0	0	0	0	1	0	0	0	5203	942	33	1	4364	1	EPRS	1	220206942	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	115311	220206942	29043679	160	34435										
RAB3GAP2	25782	genome.wustl.edu	37	chr1	220363789	220363789	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggatcaaccagacagatctGataagtctgtggctgccaac	10	10	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:220363789G>A	ENST00000358951.2	-	15	1677	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	521					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGACAGATCTGATAAGTCTGT	0.423																																																	0													122	112	115					1																	220363789		2203	4300	6503	SO:0001587	stop_gained	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1561C>T	1.37:g.220363789G>A	ENSP00000351832:p.Gln521*		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.Q521*	ENST00000358951.2	37	c.1561	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.945858	0.97956	.	.	ENSG00000118873	ENST00000358951	.	.	.	5.93	5.93	0.95920	.	0.050151	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	521	.	ENSP00000351832:Q521X	Q	-	1	0	RAB3GAP2	218430412	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	7.527000	0.81931	2.814000	0.96858	0.655000	0.94253	CAG	RAB3GAP2	-	superfamily_WD40_repeat_dom		0.423	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	G	NM_012414		220363789	-1	no_errors	ENST00000358951	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	220363789	G	A	220363789	4	1	185	1	0	0	0	0	0	1	0	0	12966	1299	45	1	2704	1	RAB3GAP2	1	220363789	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	156847	220363789	28886832	161	34436										
DEGS1	8560	genome.wustl.edu	37	chr1	224377971	224377971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttaccttcaatgtgggttatCataatgaacatcatgatttc	6	7	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:224377971C>T	ENST00000323699.4	+	2	941	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	DEGS1_ENST00000391877.3_Missense_Mutation_p.H259Y	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	259					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TGTGGGTTATCATAATGAACA	0.328																																																	0													60	60	60					1																	224377971		2203	4300	6503	SO:0001583	missense	8560			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"Fatty acid desaturases"	13709	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 1", "dihydroceramide desaturase 1"	615843	"degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.775C>T	1.37:g.224377971C>T	ENSP00000316476:p.His259Tyr			Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.H259Y	ENST00000323699.4	37	c.775	CCDS1540.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385122	0.82792	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.52057	0.68;0.68;0.68	5.8	5.8	0.92144	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81522	0.4840	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.87468	0.2412	10	0.87932	D	0	.	20.0522	0.97631	0.0:1.0:0.0:0.0	.	259;238	O15121;E7EMA0	DEGS1_HUMAN;.	Y	238;259;259	ENSP00000400545:H238Y;ENSP00000316476:H259Y;ENSP00000375749:H259Y	ENSP00000316476:H259Y	H	+	1	0	DEGS1	222444594	1.000000	0.71417	0.994000	0.49952	0.817000	0.46193	7.818000	0.86416	2.747000	0.94245	0.549000	0.68633	CAT	DEGS1	-	pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase		0.328	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS1	HGNC	protein_coding	OTTHUMT00000091285.2	C			224377971	1	no_errors	ENST00000323699	ensembl	human	known	70_37	missense	SNP	1.000	T	T	224377971	C	T	224377971	3	4	185	1	0	0	0	0	1	0	0	0	4432	826	29	1	781	1	DEGS1	1	224377971	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4014182	224377971	24872650	162	34437										
TMEM63A	9725	genome.wustl.edu	37	chr1	226041492	226041492	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggtcaggcaggaagacgcaCctggggaaaccagggcccag	16	11	1	1	rs548225364	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:226041492C>A	ENST00000366835.3	-	19	1905	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	545					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GGAAGACGCACCTGGGGAAAC	0.637																																																	0													32	26	28					1																	226041492		2202	4300	6502	SO:0001630	splice_region_variant	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1635-1G>T	1.37:g.226041492C>A			Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	pfam_DUF221	p.E545D	ENST00000366835.3	37	c.1635	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253971	0.59212	.	.	ENSG00000196187	ENST00000366835	T	0.30714	1.52	5.45	5.45	0.79879	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.76574	2.34	0.80722	D	1	D	0.54207	0.965	P	0.61722	0.893	T	0.37596	-0.9699	10	0.21014	T	0.42	.	9.5904	0.39543	0.0:0.8386:0.0:0.1614	.	545	O94886	TM63A_HUMAN	D	545	ENSP00000355800:E545D	ENSP00000355800:E545D	E	-	3	2	TMEM63A	224108115	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	1.282000	0.33226	2.562000	0.86427	0.563000	0.77884	GAG	TMEM63A	-	pfam_DUF221		0.637	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	C	NM_014698	Missense_Mutation	226041492	-1	no_errors	ENST00000366835	ensembl	human	known	70_37	missense	SNP	1.000	A	A	226041492	C	A	226041492	5	1	185	1	0	0	0	0	0	0	1	0	16220	521	18	4	812	4	TMEM63A	1	226041492	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1663521	226041492	23209129	163	34438										
C1orf55	163859	genome.wustl.edu	37	chr1	226179020	226179020	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccattgccgtttccgattctCactgatttctgctgaaacca	6	13	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:226179020C>T	ENST00000272091.7	-	5	583	c.565G>A	c.(565-567)Gag>Aag	p.E189K		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	189								p.E177*(1)									TTCCGATTCTCACTGATTTCT	0.433																																																	1	Substitution - Nonsense(1)	skin(1)											108	101	103					1																	226179020		1945	4158	6103	SO:0001583	missense	163859			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.565G>A	1.37:g.226179020C>T	ENSP00000272091:p.Glu189Lys		A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	superfamily_Mopterin_synth/thiamin_S_b	p.E189K	ENST00000272091.7	37	c.565	CCDS41473.1	1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576079	0.65878	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.45276	0.9;0.9	5.85	5.85	0.93711	.	0.556115	0.21061	N	0.080829	T	0.36496	0.0969	L	0.55481	1.735	0.09310	N	0.999999	B;B	0.32753	0.383;0.085	B;B	0.30495	0.116;0.02	T	0.28744	-1.0034	10	0.12103	T	0.63	-21.1198	13.7988	0.63188	0.0:0.9215:0.0:0.0785	.	177;189	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	K	189;177;94	ENSP00000272091:E189K;ENSP00000355782:E94K	ENSP00000272091:E189K	E	-	1	0	C1orf55	224245643	0.481000	0.25941	0.729000	0.30791	0.396000	0.30629	2.084000	0.41625	2.767000	0.95098	0.557000	0.71058	GAG	SDE2	-	NULL		0.433	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDE2	HGNC	protein_coding	OTTHUMT00000091310.1	C	NM_152608		226179020	-1	no_errors	ENST00000272091	ensembl	human	known	70_37	missense	SNP	0.145	T	T	226179020	C	T	226179020	3	4	185	1	0	0	0	0	1	0	0	0	2052	835	29	1	802	1	C1orf55	1	226179020	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	137528	226179020	23071601	164	34439										
PARP1	142	genome.wustl.edu	37	chr1	226561959	226561959	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catggctttcttcatactttCcacatcaaagatcatcttga	4	11	5	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:226561959C>G	ENST00000366794.5	-	14	2181	c.2038G>C	c.(2038-2040)Gaa>Caa	p.E680Q		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	680	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCATACTTTCCACATCAAAG	0.438								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													182	161	168					1																	226561959		2203	4300	6503	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2038G>C	1.37:g.226561959C>G	ENSP00000355759:p.Glu680Gln		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E680Q	ENST00000366794.5	37	c.2038	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992169	0.74703	.	.	ENSG00000143799	ENST00000366794	T	0.46063	0.88	5.8	5.8	0.92144	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	L	0.31926	0.97	0.80722	D	1	B	0.22080	0.064	B	0.23419	0.046	T	0.07693	-1.0759	10	0.33940	T	0.23	.	20.054	0.97641	0.0:1.0:0.0:0.0	.	680	P09874	PARP1_HUMAN	Q	680	ENSP00000355759:E680Q	ENSP00000355759:E680Q	E	-	1	0	PARP1	224628582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.743000	0.94032	0.650000	0.86243	GAA	PARP1	-	pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_reg_dom		0.438	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	C	NM_001618		226561959	-1	no_errors	ENST00000366794	ensembl	human	known	70_37	missense	SNP	1.000	G	G	226561959	C	G	226561959	3	3	185	1	0	0	0	0	1	0	0	0	11478	864	30	1	1046	1	PARP1	1	226561959	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	382939	226561959	22688662	165	34440										
HIST3H2A	92815	genome.wustl.edu	37	chr1	228645291	228645291	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggcgcgggatgatgcgcgtCttcttgttgtcgcgcgccgc	16	12	2	1	rs368009827		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:228645291C>G	ENST00000366695.2	-	1	269	c.228G>C	c.(226-228)aaG>aaC	p.K76N	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	76					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				TGATGCGCGTCTTCTTGTTGT	0.692																																																	0													72	68	69					1																	228645291		2203	4299	6502	SO:0001583	missense	92815			AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"Histones / Replication-dependent"	20507	protein-coding gene	gene with protein product		615015	"histone 3, H2a"			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.228G>C	1.37:g.228645291C>G	ENSP00000355656:p.Lys76Asn		B2R4S4	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K76N	ENST00000366695.2	37	c.228	CCDS1573.1	1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.318741	0.60524	.	.	ENSG00000181218	ENST00000366695	T	0.70282	-0.47	3.84	1.98	0.26296	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.50627	D	0.000113	D	0.86485	0.5944	H	0.96547	3.84	0.39550	D	0.968967	D	0.89917	1.0	D	0.81914	0.995	D	0.86765	0.1969	10	0.87932	D	0	.	8.3204	0.32126	0.0:0.7992:0.0:0.2008	.	76	Q7L7L0	H2A3_HUMAN	N	76	ENSP00000355656:K76N	ENSP00000355656:K76N	K	-	3	2	HIST3H2A	226711914	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.207000	0.42788	0.599000	0.29845	0.655000	0.94253	AAG	HIST3H2A	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.692	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2A	HGNC	protein_coding	OTTHUMT00000096598.1	C	NM_033445		228645291	-1	no_errors	ENST00000366695	ensembl	human	known	70_37	missense	SNP	1.000	G	G	228645291	C	G	228645291	3	3	185	1	0	0	0	0	1	0	0	0	7202	912	32	1	168	1	HIST3H2A	1	228645291	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2083332	228645291	20605330	166	34441										
B3GALNT2	148789	genome.wustl.edu	37	chr1	235658103	235658103	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccaactaccacatcatagtGagtagatttccactgaggaa	8	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:235658103G>C	ENST00000366600.3	-	2	376	c.148C>G	c.(148-150)Cac>Gac	p.H50D	B3GALNT2_ENST00000494378.1_5'UTR|B3GALNT2_ENST00000313984.3_Missense_Mutation_p.H91D	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	50					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			ACATCATAGTGAGTAGATTTC	0.383																																																	0													121	101	108					1																	235658103		2203	4300	6503	SO:0001583	missense	148789			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.148C>G	1.37:g.235658103G>C	ENSP00000355559:p.His50Asp		Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.H50D	ENST00000366600.3	37	c.148	CCDS1606.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926672	0.52759	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	T;T	0.58358	0.34;1.53	5.69	5.69	0.88448	.	0.484707	0.25192	N	0.032459	T	0.56262	0.1973	L	0.55481	1.735	0.26335	N	0.977459	P;P	0.44946	0.846;0.698	P;B	0.47786	0.557;0.108	T	0.53669	-0.8406	10	0.36615	T	0.2	-19.227	14.6597	0.68861	0.0:0.0:0.8545:0.1455	.	91;50	Q8NCR0-2;Q8NCR0	.;B3GL2_HUMAN	D	91;50;91	ENSP00000355559:H50D;ENSP00000315678:H91D	ENSP00000315678:H91D	H	-	1	0	B3GALNT2	233724726	1.000000	0.71417	0.968000	0.41197	0.977000	0.68977	4.150000	0.58098	2.864000	0.98301	0.549000	0.68633	CAC	B3GALNT2	-	NULL		0.383	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALNT2	HGNC	protein_coding	OTTHUMT00000097376.1	G	NM_152490		235658103	-1	no_errors	ENST00000366600	ensembl	human	known	70_37	missense	SNP	0.983	C	C	235658103	G	C	235658103	3	2	185	1	0	0	0	0	1	0	0	0	1247	1290	45	1	1398	1	B3GALNT2	1	235658103	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7012812	235658103	13592518	167	34442										
LYST	1130	genome.wustl.edu	37	chr1	235850285	235850285	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgtttgtgtaggctgtgatGacaccgcatttgcttccagt	11	9	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:235850285G>A	ENST00000389794.3	-	48	10938	c.10764C>T	c.(10762-10764)gtC>gtT	p.V3588V	LYST_ENST00000389793.2_Silent_p.V3588V|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3588					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGCTGTGATGACACCGCATT	0.443																																																	0													151	139	143					1																	235850285		2203	4300	6503	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10764C>T	1.37:g.235850285G>A			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V3588	ENST00000389794.3	37	c.10764	CCDS31062.1	1																																																																																			LYST	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.443	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235850285	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	silent	SNP	1.000	A	A	235850285	G	A	235850285	2	1	185	1	0	0	0	0	0	0	0	1	9151	1277	45	1		1	LYST	1	235850285	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	192182	235850285	13400336	168	34443										
RYR2	6262	genome.wustl.edu	37	chr1	237433906	237433906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgtttcttggagtccacttCcaattccaaggtgggatgaa	10	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:237433906C>T	ENST00000366574.2	+	2	475	c.158C>T	c.(157-159)tCc>tTc	p.S53F	RYR2_ENST00000360064.6_Missense_Mutation_p.P51S|RYR2_ENST00000542537.1_Missense_Mutation_p.S37F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	53					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTCCACTTCCAATTCCAAG	0.423																																																	0													86	79	81					1																	237433906		1879	4108	5987	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.158C>T	1.37:g.237433906C>T	ENSP00000355533:p.Ser53Phe		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.P51S	ENST00000366574.2	37	c.151	CCDS55691.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.29|14.29	2.491922|2.491922	0.44352|0.44352	.|.	.|.	ENSG00000198626|ENSG00000198626	ENST00000360064|ENST00000366574;ENST00000542537	D|D;D	0.96334|0.98512	-3.98|-4.97;-4.97	4.19|4.19	4.19|4.19	0.49359|0.49359	.|Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.361279|.	0.18994|.	U|.	0.125522|.	D|D	0.98298|0.98298	0.9436|0.9436	L|L	0.53671|0.53671	1.685|1.685	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.63597	.|0.916	D|D	0.99671|0.99671	1.0996|1.0996	8|9	0.87932|0.87932	D|D	0|0	.|.	16.7279|16.7279	0.85428|0.85428	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|53	.|Q92736	.|RYR2_HUMAN	S|F	51|53;37	ENSP00000353174:P51S|ENSP00000355533:S53F;ENSP00000443798:S37F	ENSP00000353174:P51S|ENSP00000355533:S53F	P|S	+|+	1|2	0|0	RYR2|RYR2	235500529|235500529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	5.774000|5.774000	0.68906|0.68906	2.158000|2.158000	0.67659|0.67659	0.453000|0.453000	0.30009|0.30009	CCA|TCC	RYR2	-	pfam_Ins145_P3_rcpt		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237433906	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	237433906	C	T	237433906	3	4	185	1	0	0	0	0	1	0	0	0	13799	855	30	1	164	1	RYR2	1	237433906	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1583621	237433906	11816715	169	34444										
FMN2	56776	genome.wustl.edu	37	chr1	240256666	240256666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcatcaccccctgctacatCaagaccaccacccggcagct	5	20	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:240256666C>G	ENST00000319653.9	+	1	1487	c.1257C>G	c.(1255-1257)atC>atG	p.I419M		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	419					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTGCTACATCAAGACCACCA	0.682																																																	0													48	56	53					1																	240256666		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1257C>G	1.37:g.240256666C>G	ENSP00000318884:p.Ile419Met		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.I419M	ENST00000319653.9	37	c.1257	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512471	0.27123	.	.	ENSG00000155816	ENST00000319653	D	0.84070	-1.8	4.15	4.15	0.48705	.	0.089017	0.46758	D	0.000262	T	0.80486	0.4632	L	0.32530	0.975	0.80722	D	1	D	0.54397	0.966	P	0.52159	0.691	T	0.82255	-0.0548	10	0.87932	D	0	.	10.307	0.43687	0.0:0.9086:0.0:0.0914	.	419	Q9NZ56	FMN2_HUMAN	M	419	ENSP00000318884:I419M	ENSP00000318884:I419M	I	+	3	3	FMN2	238323289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.987000	0.40687	2.130000	0.65690	0.462000	0.41574	ATC	FMN2	-	NULL		0.682	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	C	XM_371352		240256666	1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	1.000	G	G	240256666	C	G	240256666	3	3	185	1	0	0	0	0	1	0	0	0	5968	816	29	1	1259	1	FMN2	1	240256666	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2822760	240256666	8993955	170	34445										
RGS7	6000	genome.wustl.edu	37	chr1	241032110	241032110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcttgcatgaaaatgaactCccacttccgggcaaatgctc	8	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:241032110C>T	ENST00000407727.1	-	7	492	c.493G>A	c.(493-495)Gag>Aag	p.E165K	RGS7_ENST00000348120.2_Missense_Mutation_p.E112K|RGS7_ENST00000401882.1_Missense_Mutation_p.E112K|RGS7_ENST00000446183.2_Missense_Mutation_p.E81K|RGS7_ENST00000366563.1_Missense_Mutation_p.E165K|RGS7_ENST00000366565.1_Missense_Mutation_p.E165K|RGS7_ENST00000331110.7_Missense_Mutation_p.E139K|RGS7_ENST00000366564.1_Missense_Mutation_p.E165K|RGS7_ENST00000366562.4_Missense_Mutation_p.E165K			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	165					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AAAATGAACTCCCACTTCCGG	0.478																																																	0													152	155	154					1																	241032110		2203	4300	6503	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.493G>A	1.37:g.241032110C>T	ENSP00000384428:p.Glu165Lys		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E165K	ENST00000407727.1	37	c.493		1	.	.	.	.	.	.	.	.	.	.	C	36	5.602045	0.96614	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T	0.34667	1.39;1.38;1.39;1.39;1.35;1.4;1.39;1.38;1.35	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.996;0.999;0.991	D;D;D;D;D;P	0.87578	0.967;0.995;0.998;0.975;0.993;0.904	T	0.55121	-0.8190	10	0.45353	T	0.12	-11.1705	19.1613	0.93533	0.0:1.0:0.0:0.0	.	81;139;112;165;165;165	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.;.	K	139;165;165;165;112;81;165;165;112	ENSP00000331485:E139K;ENSP00000355523:E165K;ENSP00000355522:E165K;ENSP00000355521:E165K;ENSP00000341242:E112K;ENSP00000390138:E81K;ENSP00000355520:E165K;ENSP00000384428:E165K;ENSP00000385508:E112K	ENSP00000331485:E139K	E	-	1	0	RGS7	239098733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.768000	0.95171	0.655000	0.94253	GAG	RGS7	-	NULL		0.478	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		C	NM_002924		241032110	-1	no_errors	ENST00000407727	ensembl	human	known	70_37	missense	SNP	1.000	T	T	241032110	C	T	241032110	3	4	185	1	0	0	0	0	1	0	0	0	13340	864	30	1	1014	1	RGS7	1	241032110	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	775444	241032110	8218511	171	34446										
WDR64	128025	genome.wustl.edu	37	chr1	241920750	241920750	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tagttgagaggaacttttctCaacctactgatgtaagtttc	8	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:241920750C>T	ENST00000366552.2	+	14	2113	c.1906C>T	c.(1906-1908)Caa>Taa	p.Q636*	WDR64_ENST00000437684.2_Nonsense_Mutation_p.Q636*	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	636										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAACTTTTCTCAACCTACTGA	0.348																																																	0													147	137	140					1																	241920750		2203	4300	6503	SO:0001587	stop_gained	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1906C>T	1.37:g.241920750C>T	ENSP00000355510:p.Gln636*		B1ANT0|Q7Z573|Q96LY9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q636*	ENST00000366552.2	37	c.1906		1	.	.	.	.	.	.	.	.	.	.	C	37	6.376383	0.97515	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	.	.	.	4.99	3.03	0.35002	.	1.911430	0.02156	N	0.058380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	0.2199	7.7291	0.28777	0.0:0.6236:0.2874:0.089	.	.	.	.	X	636;636;407	.	ENSP00000355510:Q636X	Q	+	1	0	WDR64	239987373	0.882000	0.30256	0.058000	0.19502	0.003000	0.03518	1.409000	0.34680	1.075000	0.40932	-0.157000	0.13467	CAA	WDR64	-	superfamily_WD40_repeat_dom		0.348	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		C	NM_144625		241920750	1	no_errors	ENST00000366552	ensembl	human	known	70_37	nonsense	SNP	0.138	T	T	241920750	C	T	241920750	4	4	185	1	0	0	0	0	0	1	0	0	17346	827	29	1	1960	1	WDR64	1	241920750	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	888640	241920750	7329871	172	34447										
AKT3	10000	genome.wustl.edu	37	chr1	243858901	243858901	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taattaacttacttgccactGaaaagttgttgaggggataa	9	5	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:243858901G>A	ENST00000366539.1	-	3	364	c.164C>T	c.(163-165)tCa>tTa	p.S55L	AKT3_ENST00000263826.5_Missense_Mutation_p.S55L|AKT3_ENST00000366540.1_Missense_Mutation_p.S55L|AKT3_ENST00000336199.5_Missense_Mutation_p.S55L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	55	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ACTTGCCACTGAAAAGTTGTT	0.328																																																	0													61	63	63					1																	243858901		2201	4299	6500	SO:0001583	missense	10000			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.164C>T	1.37:g.243858901G>A	ENSP00000355497:p.Ser55Leu		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.S55L	ENST00000366539.1	37	c.164	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.435448	0.96150	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	L	0.60012	1.86	0.80722	D	1	B;B	0.24092	0.097;0.039	B;B	0.33254	0.16;0.099	T	0.51505	-0.8697	10	0.54805	T	0.06	.	19.7815	0.96417	0.0:0.0:1.0:0.0	.	55;55	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	L	55	ENSP00000336943:S55L;ENSP00000355498:S55L;ENSP00000355497:S55L;ENSP00000263826:S55L;ENSP00000447820:S55L	ENSP00000263826:S55L	S	-	2	0	AKT3	241925524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	TCA	AKT3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.328	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	G	NM_181690		243858901	-1	no_errors	ENST00000263826	ensembl	human	known	70_37	missense	SNP	1.000	A	A	243858901	G	A	243858901	3	1	185	1	0	0	0	0	1	0	0	0	481	1294	45	1	1371	1	AKT3	1	243858901	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1938151	243858901	5391720	173	34448										
ADSS	159	genome.wustl.edu	37	chr1	244586142	244586143	+	Frame_Shift_Ins	INS	-	-	TT													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagaaagcattaccttgagINStttttgtaattcaccttcaa							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:244586142_244586143insTT	ENST00000366535.3	-	7	973_974	c.657_658insAA	c.(655-660)aaactcfs	p.L220fs	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			ATTACCTTGAGTTTTTGTAATT	0.337																																																	0																																										SO:0001589	frameshift_variant	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.656_657dupAA	1.37:g.244586145_244586146dupTT	ENSP00000355493:p.Leu220fs			Frame_Shift_Ins	INS	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.L219fs	ENST00000366535.3	37	c.658_657	CCDS1624.1	1																																																																																			ADSS	-	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase		0.337	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSS	HGNC	protein_coding	OTTHUMT00000096697.1	-	NM_001126		244586143	-1	no_errors	ENST00000366535	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.999	TT	TT	244586143	-	TT	244586142	7	5	185	1	0	1	1	0	0	0	0	0	347	1029	36	0	740	0	ADSS	1	244586142	Frame_Shift_Ins	INS	-	TCGA-Q1-A73O-01A-11D-A32I-09	727241	244586142	4664479	174	34449										
ZNF692	55657	genome.wustl.edu	37	chr1	249150111	249150111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttaggtgtgcaggtgacagGggaaggcagtagtctggggg	20	4	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr1:249150111G>A	ENST00000306601.4	-	7	860	c.694C>T	c.(694-696)Cct>Tct	p.P232S	ZNF692_ENST00000366469.5_Missense_Mutation_p.P231S|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000451251.1_Missense_Mutation_p.P237S|ZNF692_ENST00000427146.1_Missense_Mutation_p.P187S|ZNF692_ENST00000366471.3_Missense_Mutation_p.P187S	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGGTGACAGGGGAAGGCAGT	0.572																																																	0													48	50	49					1																	249150111		2203	4300	6503	SO:0001583	missense	55657			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.694C>T	1.37:g.249150111G>A	ENSP00000305483:p.Pro232Ser		B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P237S	ENST00000306601.4	37	c.709	CCDS31127.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.45|13.45	2.240296|2.240296	0.39598|0.39598	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000476503|ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	.|T;T;T;T;T	.|0.08458	.|3.13;3.19;3.19;3.09;3.12	4.55|4.55	2.66|2.66	0.31614|0.31614	.|.	0.471029|0.471029	0.19890|0.19890	N|N	0.103756|0.103756	T|T	0.08133|0.08133	0.0203|0.0203	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B	.|0.20261	.|0.025;0.043;0.025	.|B;B;B	.|0.17098	.|0.008;0.017;0.008	T|T	0.19811|0.19811	-1.0294|-1.0294	6|10	.|0.52906	.|T	.|0.07	-1.41|-1.41	6.2954|6.2954	0.21083|0.21083	0.2195:0.0:0.7805:0.0|0.2195:0.0:0.7805:0.0	.|.	.|237;187;232	.|B4DXZ0;Q9BU19-2;Q9BU19	.|.;.;ZN692_HUMAN	L|S	11|232;187;187;231;237	.|ENSP00000305483:P232S;ENSP00000390044:P187S;ENSP00000355427:P187S;ENSP00000355425:P231S;ENSP00000391200:P237S	.|ENSP00000305483:P232S	P|P	-|-	2|1	0|0	ZNF692|ZNF692	247116734|247116734	0.051000|0.051000	0.20477|0.20477	0.734000|0.734000	0.30879|0.30879	0.221000|0.221000	0.24807|0.24807	0.957000|0.957000	0.29215|0.29215	1.276000|1.276000	0.44395|0.44395	0.462000|0.462000	0.41574|0.41574	CCC|CCT	ZNF692	-	NULL		0.572	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF692	HGNC	protein_coding	OTTHUMT00000097298.1	G	NM_017865		249150111	-1	no_errors	ENST00000451251	ensembl	human	known	70_37	missense	SNP	0.119	A	A	249150111	G	A	249150111	3	1	185	1	0	0	0	0	1	0	0	0	18127	1232	43	4	889	4	ZNF692	1	249150111	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4563969	249150111	100510	175	34450										
TPO	7173	genome.wustl.edu	37	chr2	1497747	1497747	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaacttcctccccagggctCggacagggcccctgtttgcc	10	16	0	0	rs369139497		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:1497747C>G	ENST00000345913.4	+	11	2033	c.1942C>G	c.(1942-1944)Cgg>Ggg	p.R648G	TPO_ENST00000349624.3_Missense_Mutation_p.R475G|TPO_ENST00000329066.4_Missense_Mutation_p.R648G|TPO_ENST00000382201.3_Missense_Mutation_p.R591G|TPO_ENST00000382198.1_Missense_Mutation_p.R475G|TPO_ENST00000337415.3_Missense_Mutation_p.R648G|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.R648G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	648			R -> Q (in TDH2A). {ECO:0000269|PubMed:10084596}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCCAGGGCTCGGACAGGGCC	0.567																																																	0													77	77	77					2																	1497747		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1942C>G	2.37:g.1497747C>G	ENSP00000318820:p.Arg648Gly		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R648G	ENST00000345913.4	37	c.1942	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789002	0.31685	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	4.84	2.67	0.31697	.	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.86641	0.1892	10	0.87932	D	0	-36.4063	11.3934	0.49827	0.6097:0.3903:0.0:0.0	.	648;475;591;648	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	G	648;648;648;475;648;591;475;577;122	ENSP00000337263:R648G;ENSP00000318820:R648G;ENSP00000263886:R648G;ENSP00000332044:R475G;ENSP00000329869:R648G;ENSP00000371636:R591G;ENSP00000371633:R475G;ENSP00000405788:R577G;ENSP00000419461:R122G	ENSP00000329869:R648G	R	+	1	2	TPO	1476754	0.812000	0.29077	0.212000	0.23672	0.066000	0.16364	1.631000	0.37092	1.149000	0.42402	0.561000	0.74099	CGG	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.567	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	C	NM_000547		1497747	1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.913	G	G	1497747	C	G	1497747	3	3	185	1	0	0	0	0	1	0	0	0	16441	875	31	1	1980	1	TPO	2	1497747	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		1497747	241701626	176	34451										
PXDN	7837	genome.wustl.edu	37	chr2	1687886	1687886	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgggagatgctggaacgaatCtgggtccaaagtttctatct	12	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:1687886C>G	ENST00000252804.4	-	5	504	c.454G>C	c.(454-456)Gat>Cat	p.D152H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	152					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGAACGAATCTGGGTCCAAA	0.408																																																	0													48	50	49					2																	1687886		1856	4101	5957	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.454G>C	2.37:g.1687886C>G	ENSP00000252804:p.Asp152His		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.D152H	ENST00000252804.4	37	c.454	CCDS46221.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.55|13.55|13.55	2.269278|2.269278|2.269278	0.40095|0.40095|0.40095	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000433670|ENST00000447941	T;T|.|.	0.53423|.|.	0.62;0.93|.|.	5.72|5.72|5.72	4.83|4.83|4.83	0.62350|0.62350|0.62350	.|.|.	0.385417|.|.	0.28296|.|.	N|.|.	0.015878|.|.	T|T|T	0.42314|0.42314|0.42314	0.1197|0.1197|0.1197	L|L|L	0.37800|0.37800|0.37800	1.135|1.135|1.135	0.24505|0.24505|0.24505	N|N|N	0.994236|0.994236|0.994236	B;B|.|.	0.06786|.|.	0.0;0.001|.|.	B;B|.|.	0.11329|.|.	0.004;0.006|.|.	T|T|T	0.27872|0.27872|0.27872	-1.0061|-1.0061|-1.0061	10|5|5	0.41790|.|.	T|.|.	0.15|.|.	-24.5407|-24.5407|-24.5407	14.1231|14.1231|14.1231	0.65203|0.65203|0.65203	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.|.	152;152|.|.	Q92626-2;Q92626|.|.	.;PXDN_HUMAN|.|.	H|H|T	152;128|147|75	ENSP00000252804:D152H;ENSP00000398363:D128H|.|.	ENSP00000252804:D152H|.|.	D|Q|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1666893|1666893|1666893	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.192000|0.192000|0.192000	0.23308|0.23308|0.23308	0.131000|0.131000|0.131000	0.20780|0.20780|0.20780	3.940000|3.940000|3.940000	0.56599|0.56599|0.56599	2.688000|2.688000|2.688000	0.91661|0.91661|0.91661	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAT|CAG|AGA	PXDN	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.408	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1687886	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	0.929	G	G	1687886	C	G	1687886	3	3	185	1	0	0	0	0	1	0	0	0	12877	913	32	1	4061	1	PXDN	2	1687886	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	190139	1687886	241511487	177	34452										
RPS7	6201	genome.wustl.edu	37	chr2	3623257	3623257	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcgagaagccggacgagttcGagtccggcatctcccaggtg	15	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:3623257G>C	ENST00000304921.5	+	2	222	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	RPS7_ENST00000407445.3_Missense_Mutation_p.E20Q|RPS7_ENST00000406376.1_Missense_Mutation_p.E20Q|RPS7_ENST00000403564.1_Missense_Mutation_p.E20Q	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	20					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GGACGAGTTCGAGTCCGGCAT	0.672																																																	0													28	33	31					2																	3623257		2202	4298	6500	SO:0001583	missense	6201				CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"S ribosomal proteins"	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.58G>C	2.37:g.3623257G>C	ENSP00000339095:p.Glu20Gln		P23821|P24818|Q57Z92|Q6IPH1	Missense_Mutation	SNP	pfam_Ribosomal_S7e	p.E20Q	ENST00000304921.5	37	c.58	CCDS1648.1	2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513757	0.85389	.	.	ENSG00000171863	ENST00000304921;ENST00000407445;ENST00000403564;ENST00000406376	.	.	.	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	H	0.96111	3.77	0.80722	D	1	D;D	0.64830	0.994;0.96	P;P	0.62382	0.901;0.896	D	0.90772	0.4673	9	0.87932	D	0	-2.792	15.0609	0.71951	0.0:0.0:1.0:0.0	.	20;20	B5MCP9;P62081	.;RS7_HUMAN	Q	20	.	ENSP00000339095:E20Q	E	+	1	0	RPS7	3601132	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.325000	0.79124	2.071000	0.62044	0.467000	0.42956	GAG	RPS7	-	pfam_Ribosomal_S7e		0.672	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS7	HGNC	protein_coding	OTTHUMT00000206667.1	G	NM_001011		3623257	1	no_errors	ENST00000304921	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3623257	G	C	3623257	3	2	185	1	0	0	0	0	1	0	0	0	13690	1059	37	1	60	1	RPS7	2	3623257	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1935371	3623257	239576116	178	34453										
CPSF3	51692	genome.wustl.edu	37	chr2	9568944	9568944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tattattctcgagttcaaagGaagaaaaataatggtaatta	7	3	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:9568944G>A	ENST00000238112.3	+	2	307	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CPSF3_ENST00000460593.1_5'UTR	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	34					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GAGTTCAAAGGAAGAAAAATA	0.318																																					Colon(194;1259 2048 3845 5218 19985)												0													65	69	68					2																	9568944		2203	4298	6501	SO:0001583	missense	51692			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.101G>A	2.37:g.9568944G>A	ENSP00000238112:p.Gly34Glu		O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.G34E	ENST00000238112.3	37	c.101	CCDS1664.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126454	0.77549	.	.	ENSG00000119203	ENST00000238112;ENST00000427001	T	0.81078	-1.45	5.25	5.25	0.73442	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.82375	0.5023	M	0.66378	2.025	0.80722	D	1	P;P	0.40731	0.728;0.623	B;B	0.43225	0.33;0.412	T	0.83152	-0.0103	10	0.46703	T	0.11	-24.9393	18.1817	0.89780	0.0:0.0:1.0:0.0	.	34;34	E7ER23;Q9UKF6	.;CPSF3_HUMAN	E	34	ENSP00000238112:G34E	ENSP00000238112:G34E	G	+	2	0	CPSF3	9486395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.469000	0.97679	2.613000	0.88420	0.491000	0.48974	GGA	CPSF3	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like		0.318	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3	HGNC	protein_coding	OTTHUMT00000206843.1	G	NM_016207		9568944	1	no_errors	ENST00000238112	ensembl	human	known	70_37	missense	SNP	1.000	A	A	9568944	G	A	9568944	3	1	185	1	0	0	0	0	1	0	0	0	3831	1174	41	1	107	1	CPSF3	2	9568944	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5945687	9568944	233630429	179	34454										
NBAS	51594	genome.wustl.edu	37	chr2	15427303	15427303	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgtagacgctttcctctaGagttctgcagaaatgtccat	9	10	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:15427303G>C	ENST00000281513.5	-	42	5057	c.5032C>G	c.(5032-5034)Cta>Gta	p.L1678V	NBAS_ENST00000441750.1_Missense_Mutation_p.L1558V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1678					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTTCCTCTAGAGTTCTGCAG	0.473																																																	0													100	96	97					2																	15427303		2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5032C>G	2.37:g.15427303G>C	ENSP00000281513:p.Leu1678Val		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.L1678V	ENST00000281513.5	37	c.5032	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207360	0.79240	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11385	2.78;2.97	5.55	5.55	0.83447	.	0.118666	0.64402	D	0.000018	T	0.33556	0.0867	M	0.76574	2.34	0.80722	D	1	D;D	0.62365	0.991;0.966	D;P	0.64506	0.926;0.77	T	0.01222	-1.1414	10	0.87932	D	0	.	17.8672	0.88799	0.0:0.0:1.0:0.0	.	1558;1678	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	V	1558;1678	ENSP00000413201:L1558V;ENSP00000281513:L1678V	ENSP00000281513:L1678V	L	-	1	2	NBAS	15344754	1.000000	0.71417	0.182000	0.23118	0.756000	0.42949	8.570000	0.90748	2.894000	0.99253	0.655000	0.94253	CTA	NBAS	-	NULL		0.473	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	G	NM_015909		15427303	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	missense	SNP	0.991	C	C	15427303	G	C	15427303	3	2	185	1	0	0	0	0	1	0	0	0	10209	933	33	1	2127	1	NBAS	2	15427303	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5858359	15427303	227772070	180	34455										
FAM49A	81553	genome.wustl.edu	37	chr2	16742802	16742802	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgaatagccgggttcctcatCtgaaattcagaggacaagag	11	8	3	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:16742802C>G	ENST00000381323.3	-	7	656		c.e7-1		FAM49A_ENST00000355549.2_Splice_Site|FAM49A_ENST00000406434.1_Splice_Site	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A							intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GGTTCCTCATCTGAAATTCAG	0.468																																																	0													92	83	86					2																	16742802		2203	4300	6503	SO:0001630	splice_region_variant	81553			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.436-1G>C	2.37:g.16742802C>G			B3KNZ1|Q53QW2	Splice_Site	SNP	-	e5-1	ENST00000381323.3	37	c.436-1	CCDS1688.1	2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244977	0.79912	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2124	0.93763	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM49A	16606283	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	.	FAM49A	-	-		0.468	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2	C	NM_030797	Intron	16742802	-1	no_errors	ENST00000355549	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	16742802	C	G	16742802	5	3	185	1	0	0	0	0	0	0	1	0	5593	927	32	1	560	1	FAM49A	2	16742802	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1315499	16742802	226456571	181	34456										
SMC6	79677	genome.wustl.edu	37	chr2	17906593	17906593	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgtatgaataatcttccttCatctgttcaagttgcgttgc	7	8	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:17906593C>A	ENST00000448223.2	-	9	926	c.657G>T	c.(655-657)atG>atT	p.M219I	SMC6_ENST00000402989.1_Missense_Mutation_p.M219I|SMC6_ENST00000381272.4_Missense_Mutation_p.M245I|SMC6_ENST00000351948.4_Missense_Mutation_p.M219I	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	219					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATCTTCCTTCATCTGTTCAA	0.303																																																	0													137	114	122					2																	17906593		2203	4296	6499	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.657G>T	2.37:g.17906593C>A	ENSP00000404092:p.Met219Ile		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.M245I	ENST00000448223.2	37	c.735	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669810	0.88348	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	5.74	5.74	0.90152	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	L	0.35723	1.085	0.58432	D	0.999996	P;B;P	0.42908	0.754;0.067;0.793	P;B;P	0.49953	0.493;0.051;0.627	T	0.12785	-1.0534	10	0.22706	T	0.39	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	245;245;219	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	I	219;219;245;219;245	ENSP00000404092:M219I;ENSP00000323439:M219I;ENSP00000370672:M245I;ENSP00000384539:M219I;ENSP00000408644:M245I	ENSP00000323439:M219I	M	-	3	0	SMC6	17770074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.170000	0.71920	2.880000	0.98712	0.650000	0.86243	ATG	SMC6	-	NULL		0.303	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	C	NM_024624		17906593	-1	no_errors	ENST00000381272	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17906593	C	A	17906593	3	1	185	1	0	0	0	0	1	0	0	0	14817	826	29	3	2698	3	SMC6	2	17906593	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1163791	17906593	225292780	182	34457										
MATN3	4148	genome.wustl.edu	37	chr2	20205884	20205884	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcttatctgtgtaggcctgGagttggaactcgatcttcac	11	9	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:20205884G>C	ENST00000407540.3	-	2	473	c.411C>G	c.(409-411)ctC>ctG	p.L137L	MATN3_ENST00000421259.2_Silent_p.L137L|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	137	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGGCCTGGAGTTGGAACT	0.557																																																	0													67	73	71					2																	20205884		2088	4221	6309	SO:0001819	synonymous_variant	4148			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.411C>G	2.37:g.20205884G>C			B2CPU0|Q4ZG02	Silent	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.L137	ENST00000407540.3	37	c.411	CCDS46226.1	2																																																																																			MATN3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.557	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	HGNC	protein_coding	OTTHUMT00000323925.1	G	NM_002381		20205884	-1	no_errors	ENST00000407540	ensembl	human	known	70_37	silent	SNP	0.945	C	C	20205884	G	C	20205884	2	2	185	1	0	0	0	0	0	0	0	1	9358	1161	41	1		1	MATN3	2	20205884	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2299291	20205884	222993489	183	34458										
APOB	338	genome.wustl.edu	37	chr2	21230105	21230105	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaaatctaatgcattgtttCtgtttttttcaaaatgcctg	5	7	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:21230105C>G	ENST00000233242.1	-	26	9762	c.9635G>C	c.(9634-9636)aGa>aCa	p.R3212T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3212	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATTGTTTCTGTTTTTTTC	0.363																																																	0													47	48	48					2																	21230105		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9635G>C	2.37:g.21230105C>G	ENSP00000233242:p.Arg3212Thr		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.R3212T	ENST00000233242.1	37	c.9635	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	7.966	0.748007	0.15710	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38560	1.13	5.15	3.36	0.38483	.	0.328573	0.26446	N	0.024339	T	0.65270	0.2675	M	0.85462	2.755	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.68172	-0.5479	10	0.66056	D	0.02	.	11.6558	0.51318	0.0:0.8543:0.0:0.1457	.	3212	P04114	APOB_HUMAN	T	3212	ENSP00000233242:R3212T	ENSP00000233242:R3212T	R	-	2	0	APOB	21083610	0.998000	0.40836	0.065000	0.19835	0.002000	0.02628	2.621000	0.46418	0.564000	0.29238	-0.253000	0.11424	AGA	APOB	-	NULL		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21230105	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21230105	C	G	21230105	3	3	185	1	0	0	0	0	1	0	0	0	785	913	32	1	4072	1	APOB	2	21230105	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1024221	21230105	221969268	184	34459										
C2orf44	80304	genome.wustl.edu	37	chr2	24260744	24260744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttctttctttgaggcaaacGaggaggctccagtgtgctgg	14	8	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:24260744G>A	ENST00000295148.4	-	2	1678	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C	C2orf44_ENST00000406895.3_Missense_Mutation_p.R541C	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	541									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGCAAACGAGGAGGCTCC	0.488			T	ALK	NSCLC																																			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													64	66	65					2																	24260744		2203	4300	6503	SO:0001583	missense	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1621C>T	2.37:g.24260744G>A	ENSP00000295148:p.Arg541Cys		D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	NULL	p.R541C	ENST00000295148.4	37	c.1621	CCDS1705.1	2	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462557	0.26248	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.44083	0.93;0.93	5.49	-11.0	0.00169	.	0.936056	0.09138	N	0.843471	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.17137	-1.0379	10	0.45353	T	0.12	0.3765	2.5998	0.04863	0.2384:0.1553:0.4154:0.1909	.	541;541	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	C	541	ENSP00000295148:R541C;ENSP00000385816:R541C	ENSP00000295148:R541C	R	-	1	0	C2orf44	24114248	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.285000	0.08410	-2.998000	0.00277	-1.917000	0.00517	CGT	C2orf44	-	NULL		0.488	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	HGNC	protein_coding	OTTHUMT00000246825.1	G	NM_025203		24260744	-1	no_errors	ENST00000295148	ensembl	human	known	70_37	missense	SNP	0.000	A	A	24260744	G	A	24260744	3	1	185	1	0	0	0	0	1	0	0	0	2173	1058	37	1	556	1	C2orf44	2	24260744	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3030639	24260744	218938629	185	34460										
DNMT3A	1788	genome.wustl.edu	37	chr2	25469588	25469588	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctccacggccttggcagtgtCactctcatcgctgtcgtggc	11	15	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:25469588C>T	ENST00000264709.3	-	10	1517	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	DNMT3A_ENST00000402667.1_Missense_Mutation_p.D171N|DNMT3A_ENST00000380746.4_Missense_Mutation_p.D205N|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D394N	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	394	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCAGTGTCACTCTCATCG	0.652			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													83	81	82					2																	25469588		2203	4299	6502	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1180G>A	2.37:g.25469588C>T	ENSP00000264709:p.Asp394Asn		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.D394N	ENST00000264709.3	37	c.1180	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169167	0.78339	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	4.87	4.87	0.63330	.	0.102660	0.64402	D	0.000004	D	0.92417	0.7593	L	0.33485	1.01	0.80722	D	1	P;B	0.42518	0.782;0.261	B;B	0.37422	0.249;0.036	D	0.91632	0.5319	10	0.27082	T	0.32	-14.5852	15.5438	0.76077	0.0:1.0:0.0:0.0	.	394;205	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	N	205;394;394;171	ENSP00000370122:D205N;ENSP00000324375:D394N;ENSP00000264709:D394N;ENSP00000384237:D171N	ENSP00000264709:D394N	D	-	1	0	DNMT3A	25323092	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.299000	0.78831	2.535000	0.85469	0.655000	0.94253	GAC	DNMT3A	-	NULL		0.652	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25469588	-1	no_errors	ENST00000264709	ensembl	human	known	70_37	missense	SNP	1.000	T	T	25469588	C	T	25469588	3	4	185	1	0	0	0	0	1	0	0	0	4686	826	29	1	1614	1	DNMT3A	2	25469588	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1208844	25469588	217729785	186	34461										
KIF3C	3797	genome.wustl.edu	37	chr2	26178494	26178494	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccatagtctcctcgtcccgGagcatcatctcctgctgcat	7	16	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:26178494G>A	ENST00000264712.3	-	3	2265	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	KIF3C_ENST00000405914.1_Silent_p.L562L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	562					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGTCCCGGAGCATCATCT	0.587																																																	0													184	142	156					2																	26178494		2203	4300	6503	SO:0001819	synonymous_variant	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1686C>T	2.37:g.26178494G>A			O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L562	ENST00000264712.3	37	c.1686	CCDS1719.1	2																																																																																			KIF3C	-	NULL		0.587	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	G			26178494	-1	no_errors	ENST00000264712	ensembl	human	known	70_37	silent	SNP	0.972	A	A	26178494	G	A	26178494	2	1	185	1	0	0	0	0	0	0	0	1	8322	1161	41	1		1	KIF3C	2	26178494	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	708906	26178494	217020879	187	34462										
GPR113	165082	genome.wustl.edu	37	chr2	26532840	26532840	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggctgtgcccatgtcctctGaggagggccatggaatgcct	14	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:26532840G>A	ENST00000311519.1	-	13	3211	c.3212C>T	c.(3211-3213)tCa>tTa	p.S1071L	GPR113_ENST00000459892.1_Intron|GPR113_ENST00000333478.6_Intron|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1071					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTCCTCTGAGGAGGGCCA	0.552																																																	0													44	45	45					2																	26532840		692	1591	2283	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.3212C>T	2.37:g.26532840G>A	ENSP00000307831:p.Ser1071Leu		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1071L	ENST00000311519.1	37	c.3212	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841198	0.51057	.	.	ENSG00000173567	ENST00000311519	T	0.29917	1.55	5.45	-1.01	0.10169	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	9	0.44086	T	0.13	.	3.5943	0.08000	0.1527:0.3642:0.3666:0.1165	.	1071	Q8IZF5	GP113_HUMAN	L	1071	ENSP00000307831:S1071L	ENSP00000307831:S1071L	S	-	2	0	GPR113	26386344	0.000000	0.05858	0.000000	0.03702	0.475000	0.33008	-1.231000	0.02939	-0.292000	0.08999	0.655000	0.94253	TCA	GPR113	-	NULL		0.552	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26532840	-1	no_errors	ENST00000311519	ensembl	human	putative	70_37	missense	SNP	0.000	A	A	26532840	G	A	26532840	3	1	185	1	0	0	0	0	1	0	0	0	6649	1294	45	1	120	1	GPR113	2	26532840	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	354346	26532840	216666533	188	34463										
GPR113	165082	genome.wustl.edu	37	chr2	26532887	26532887	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgctcttggatgcacagctGaggatctgaaggcagcaact	12	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:26532887G>A	ENST00000311519.1	-	13	3164	c.3165C>T	c.(3163-3165)ctC>ctT	p.L1055L	GPR113_ENST00000459892.1_Intron|GPR113_ENST00000333478.6_Intron|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1055					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCACAGCTGAGGATCTGAA	0.552																																																	0													72	70	70					2																	26532887		2203	4300	6503	SO:0001819	synonymous_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.3165C>T	2.37:g.26532887G>A			B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L1055	ENST00000311519.1	37	c.3165	CCDS46239.1	2																																																																																			GPR113	-	NULL		0.552	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26532887	-1	no_errors	ENST00000311519	ensembl	human	putative	70_37	silent	SNP	0.001	A	A	26532887	G	A	26532887	2	1	185	1	0	0	0	0	0	0	0	1	6649	1277	45	1		1	GPR113	2	26532887	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	47	26532887	216666486	189	34464										
SLC5A6	8884	genome.wustl.edu	37	chr2	27424300	27424300	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cataagtaagacaaggaataGaaccgctgcagccctgtggg	12	9	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:27424300G>C	ENST00000310574.3	-	15	2039	c.1566C>G	c.(1564-1566)ttC>ttG	p.F522L	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Missense_Mutation_p.F522L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	522					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	ACAAGGAATAGAACCGCTGCA	0.522																																																	0													89	82	84					2																	27424300		2203	4300	6503	SO:0001583	missense	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1566C>G	2.37:g.27424300G>C	ENSP00000310208:p.Phe522Leu		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F522L	ENST00000310574.3	37	c.1566	CCDS1740.1	2	.	.	.	.	.	.	.	.	.	.	G	4.433	0.080057	0.08533	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	T;T	0.61859	0.07;0.07	5.05	4.17	0.49024	.	0.723159	0.14214	N	0.333872	T	0.30198	0.0757	N	0.04275	-0.24	0.52501	D	0.999952	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	10	0.02654	T	1	.	11.1398	0.48396	0.0892:0.0:0.9108:0.0	.	522	Q9Y289	SC5A6_HUMAN	L	522	ENSP00000310208:F522L;ENSP00000384853:F522L	ENSP00000310208:F522L	F	-	3	2	SLC5A6	27277804	1.000000	0.71417	0.752000	0.31206	0.071000	0.16799	2.305000	0.43664	1.353000	0.45828	0.650000	0.86243	TTC	SLC5A6	-	NULL		0.522	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	G	NM_021095		27424300	-1	no_errors	ENST00000310574	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27424300	G	C	27424300	3	2	185	1	0	0	0	0	1	0	0	0	14699	933	33	1	353	1	SLC5A6	2	27424300	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	891413	27424300	215775073	190	34465										
SLC5A6	8884	genome.wustl.edu	37	chr2	27430367	27430367	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caccaacagtatgccggcccCagccacgacaagcatggtag	10	15	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:27430367C>T	ENST00000310574.3	-	3	625	c.152G>A	c.(151-153)tGg>tAg	p.W51*	SLC5A6_ENST00000408041.1_Nonsense_Mutation_p.W51*	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	51					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	ATGCCGGCCCCAGCCACGACA	0.602																																																	0													123	102	109					2																	27430367		2203	4300	6503	SO:0001587	stop_gained	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.152G>A	2.37:g.27430367C>T	ENSP00000310208:p.Trp51*		B2RB85|D6W549|Q969Y5	Nonsense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.W51*	ENST00000310574.3	37	c.152	CCDS1740.1	2	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854082	0.71719	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463;ENST00000432106;ENST00000426119;ENST00000414408;ENST00000428518	.	.	.	5.67	5.67	0.87782	.	0.128799	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.2723	0.87105	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000310208:W51X	W	-	2	0	SLC5A6	27283871	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	4.902000	0.63266	2.667000	0.90743	0.563000	0.77884	TGG	SLC5A6	-	pfscan_Na/solute_symporter		0.602	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	C	NM_021095		27430367	-1	no_errors	ENST00000310574	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	27430367	C	T	27430367	4	4	185	1	0	0	0	0	0	1	0	0	14699	595	21	4	1815	4	SLC5A6	2	27430367	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6067	27430367	215769006	191	34466										
PPM1G	5496	genome.wustl.edu	37	chr2	27607593	27607593	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgactcatcctcactgtcctCaaagaacttggacttagcaa	6	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:27607593C>G	ENST00000344034.4	-	5	1036	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	PPM1G_ENST00000350803.4_Missense_Mutation_p.E258Q	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	258	Asp/Glu-rich (acidic).				cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TCACTGTCCTCAAAGAACTTG	0.562																																																	0													124	114	117					2																	27607593		2203	4300	6503	SO:0001583	missense	5496			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.772G>C	2.37:g.27607593C>G	ENSP00000342778:p.Glu258Gln			Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E258Q	ENST00000344034.4	37	c.772	CCDS1752.1	2	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679914	0.68042	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.48522	0.81;0.81	5.64	5.64	0.86602	Protein phosphatase 2C-like (3);	16.637500	0.00166	N	0.000000	T	0.56321	0.1977	M	0.64997	1.995	0.51482	D	0.999921	P;P	0.47762	0.761;0.9	B;B	0.42827	0.399;0.362	T	0.55879	-0.8071	10	0.15952	T	0.53	-13.5037	18.2516	0.90005	0.0:1.0:0.0:0.0	.	59;258	Q59GB2;O15355	.;PPM1G_HUMAN	Q	258;258;241;59	ENSP00000342778:E258Q;ENSP00000264714:E258Q	ENSP00000342778:E258Q	E	-	1	0	PPM1G	27461097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.670000	0.90874	0.655000	0.94253	GAG	PPM1G	-	superfamily_PP2C-like,smart_PP2C-like		0.562	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1G	HGNC	protein_coding	OTTHUMT00000215032.1	C	NM_002707		27607593	-1	no_errors	ENST00000344034	ensembl	human	known	70_37	missense	SNP	1.000	G	G	27607593	C	G	27607593	3	3	185	1	0	0	0	0	1	0	0	0	12367	835	29	1	892	1	PPM1G	2	27607593	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	177226	27607593	215591780	192	34467										
IFT172	26160	genome.wustl.edu	37	chr2	27700992	27700992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtgtgacttgagcaccactCgggttcctgatgacaggttc	12	10	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:27700992C>T	ENST00000260570.3	-	11	1140	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	IFT172_ENST00000416524.2_Missense_Mutation_p.R325Q|RNU6-986P_ENST00000363133.1_RNA|IFT172_ENST00000359466.6_Missense_Mutation_p.R346Q	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	346					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAGCACCACTCGGGTTCCTGA	0.498																																																	0													201	182	189					2																	27700992		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1037G>A	2.37:g.27700992C>T	ENSP00000260570:p.Arg346Gln		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.R346Q	ENST00000260570.3	37	c.1037	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685013	0.68157	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.23147	1.92;1.92;1.92	5.98	5.98	0.97165	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	M	0.76838	2.35	0.80722	D	1	P;P;P	0.46656	0.812;0.882;0.882	B;B;B	0.37304	0.103;0.178;0.246	T	0.16217	-1.0410	10	0.27785	T	0.31	-5.6862	18.993	0.92801	0.0:1.0:0.0:0.0	.	346;346;346	A5PKZ0;Q9UG01-2;Q9UG01	.;.;IF172_HUMAN	Q	346;346;325	ENSP00000260570:R346Q;ENSP00000352443:R346Q;ENSP00000407408:R325Q	ENSP00000260570:R346Q	R	-	2	0	IFT172	27554496	1.000000	0.71417	0.848000	0.33437	0.530000	0.34684	5.730000	0.68546	2.839000	0.97877	0.650000	0.86243	CGA	IFT172	-	superfamily_WD40_repeat_dom		0.498	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	C	NM_015662		27700992	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	0.993	T	T	27700992	C	T	27700992	3	4	185	1	0	0	0	0	1	0	0	0	7577	884	31	1	4364	1	IFT172	2	27700992	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	93399	27700992	215498381	193	34468										
FAM179A	165186	genome.wustl.edu	37	chr2	29225407	29225407	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccatccctgtacagcctctCtggatccagggggaggcccc	11	17	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:29225407C>G	ENST00000379558.4	+	5	784	c.433C>G	c.(433-435)Ctg>Gtg	p.L145V	FAM179A_ENST00000403861.2_Missense_Mutation_p.L145V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	145										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TACAGCCTCTCTGGATCCAGG	0.627																																																	0													21	23	23					2																	29225407		1905	4114	6019	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.433C>G	2.37:g.29225407C>G	ENSP00000368876:p.Leu145Val		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.L145V	ENST00000379558.4	37	c.433	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895660	0.33442	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.17854	2.57;2.25	5.18	3.11	0.35812	.	.	.	.	.	T	0.20251	0.0487	L	0.29908	0.895	0.21416	N	0.999699	D;D	0.62365	0.987;0.991	P;P	0.59056	0.851;0.787	T	0.08722	-1.0708	9	0.34782	T	0.22	.	4.937	0.13946	0.0:0.6954:0.0:0.3046	.	145;145	F8W8E4;Q6ZUX3	.;F179A_HUMAN	V	145	ENSP00000368876:L145V;ENSP00000384699:L145V	ENSP00000368876:L145V	L	+	1	2	FAM179A	29078911	0.038000	0.19896	0.741000	0.31004	0.042000	0.13812	0.114000	0.15520	1.182000	0.42928	0.555000	0.69702	CTG	FAM179A	-	NULL		0.627	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	C	NM_199280		29225407	1	no_errors	ENST00000379558	ensembl	human	known	70_37	missense	SNP	0.691	G	G	29225407	C	G	29225407	3	3	185	1	0	0	0	0	1	0	0	0	5520	912	32	1	447	1	FAM179A	2	29225407	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1524415	29225407	213973966	194	34469										
FAM179A	165186	genome.wustl.edu	37	chr2	29247043	29247043	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaggtgtctcacctggccatCagcaccttgggagacctctt	10	13	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:29247043C>G	ENST00000379558.4	+	13	2007	c.1656C>G	c.(1654-1656)atC>atG	p.I552M	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.I497M	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	552										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCTGGCCATCAGCACCTTGG	0.617																																																	0													23	24	24					2																	29247043		1978	4150	6128	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1656C>G	2.37:g.29247043C>G	ENSP00000368876:p.Ile552Met		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.I552M	ENST00000379558.4	37	c.1656	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303832	0.40795	.	.	ENSG00000189350	ENST00000379558;ENST00000403861;ENST00000440012	T;T;T	0.44482	0.92;0.92;0.92	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.64402	D	0.000004	T	0.56396	0.1982	L	0.58810	1.83	0.35833	D	0.825453	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64630	-0.6362	10	0.46703	T	0.11	.	8.8098	0.34961	0.0:0.829:0.0:0.1709	.	497;552	F8W8E4;Q6ZUX3	.;F179A_HUMAN	M	552;497;47	ENSP00000368876:I552M;ENSP00000384699:I497M;ENSP00000396739:I47M	ENSP00000368876:I552M	I	+	3	3	FAM179A	29100547	0.987000	0.35691	0.999000	0.59377	0.615000	0.37417	1.245000	0.32790	2.262000	0.75019	0.462000	0.41574	ATC	FAM179A	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold		0.617	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	C	NM_199280		29247043	1	no_errors	ENST00000379558	ensembl	human	known	70_37	missense	SNP	0.998	G	G	29247043	C	G	29247043	3	3	185	1	0	0	0	0	1	0	0	0	5520	816	29	1	1702	1	FAM179A	2	29247043	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	21636	29247043	213952330	195	34470										
XDH	7498	genome.wustl.edu	37	chr2	31572578	31572578	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacttgtcaacctcactcttCcgagcatgatactgagagct	7	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:31572578C>T	ENST00000379416.3	-	26	2991	c.2943G>A	c.(2941-2943)cgG>cgA	p.R981R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	981					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCTCACTCTTCCGAGCATGAT	0.478																																					Colon(66;682 1445 30109 40147)												0													165	159	161					2																	31572578		2203	4300	6503	SO:0001819	synonymous_variant	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2943G>A	2.37:g.31572578C>T			Q16681|Q16712|Q4PJ16	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.R981	ENST00000379416.3	37	c.2943	CCDS1775.1	2																																																																																			XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH		0.478	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	C	NM_000379		31572578	-1	no_errors	ENST00000379416	ensembl	human	known	70_37	silent	SNP	0.857	T	T	31572578	C	T	31572578	2	4	185	1	0	0	0	0	0	0	0	1	17457	842	30	1		1	XDH	2	31572578	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2325535	31572578	211626795	196	34471										
TTC27	55622	genome.wustl.edu	37	chr2	32855589	32855589	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cactaattttttatattacaGagagtggatctttcctacaa	5	7	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:32855589G>A	ENST00000317907.4	+	2	319		c.e2-1			NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27									p.?(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTATATTACAGAGAGTGGATC	0.303																																																	2	Unknown(2)	lung(2)											34	38	36					2																	32855589		2197	4295	6492	SO:0001630	splice_region_variant	55622			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.89-1G>A	2.37:g.32855589G>A			A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Splice_Site	SNP	-	e2-1	ENST00000317907.4	37	c.89-1	CCDS33176.1	2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938438	0.34189	.	.	ENSG00000018699	ENST00000317907	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5614	0.84567	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC27	32709093	1.000000	0.71417	0.999000	0.59377	0.269000	0.26545	6.572000	0.74005	2.706000	0.92434	0.561000	0.74099	.	TTC27	-	-		0.303	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC27	HGNC	protein_coding	OTTHUMT00000325395.1	G	NM_017735	Intron	32855589	1	no_errors	ENST00000317907	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	32855589	G	A	32855589	5	1	185	1	0	0	0	0	0	0	1	0	16726	956	33	1	94	1	TTC27	2	32855589	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1283011	32855589	210343784	197	34472										
VIT	5212	genome.wustl.edu	37	chr2	36970381	36970381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcatcctactccagtgtgtGtggcgctgccgtacacaggt	12	12	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:36970381G>A	ENST00000389975.3	+	4	559	c.257G>A	c.(256-258)tGt>tAt	p.C86Y	VIT_ENST00000379242.3_Missense_Mutation_p.C86Y|VIT_ENST00000457137.2_Missense_Mutation_p.C86Y|VIT_ENST00000404084.1_Missense_Mutation_p.C64Y|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.C86Y|VIT_ENST00000401530.1_Missense_Mutation_p.C86Y	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	86	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCCAGTGTGTGTGGCGCTGCC	0.483																																																	0													115	97	103					2																	36970381		2203	4300	6503	SO:0001583	missense	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.257G>A	2.37:g.36970381G>A	ENSP00000374625:p.Cys86Tyr		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.C86Y	ENST00000389975.3	37	c.257	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843338	0.51057	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23;-4.23	4.78	4.78	0.61160	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	H	0.95151	3.63	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.999;0.999	D	0.99572	1.0971	10	0.87932	D	0	-11.1013	16.3882	0.83523	0.0:0.0:1.0:0.0	.	86;86;86;86;86;86	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	Y	86;86;86;86;64;86;86	ENSP00000368544:C86Y;ENSP00000374625:C86Y;ENSP00000393561:C86Y;ENSP00000384154:C64Y;ENSP00000368543:C86Y;ENSP00000385658:C86Y	ENSP00000368543:C86Y	C	+	2	0	VIT	36823885	1.000000	0.71417	0.976000	0.42696	0.179000	0.23085	9.112000	0.94314	2.363000	0.80096	0.655000	0.94253	TGT	VIT	-	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL		0.483	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		G			36970381	1	no_errors	ENST00000379242	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36970381	G	A	36970381	3	1	185	1	0	0	0	0	1	0	0	0	17202	1377	48	4	267	4	VIT	2	36970381	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4114792	36970381	206228992	198	34473										
STRN	6801	genome.wustl.edu	37	chr2	37152346	37152346	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctccctgcaggaaggcaatCtgggcctgagtaggggaaag	15	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:37152346C>G	ENST00000263918.4	-	2	248	c.240G>C	c.(238-240)caG>caC	p.Q80H	STRN_ENST00000379213.2_Missense_Mutation_p.Q68H	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	80					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGAAGGCAATCTGGGCCTGAG	0.378																																																	0													44	47	46					2																	37152346		2202	4299	6501	SO:0001583	missense	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.240G>C	2.37:g.37152346C>G	ENSP00000263918:p.Gln80His		Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q80H	ENST00000263918.4	37	c.240	CCDS1784.1	2	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174619	0.57692	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.66280	-0.2;-0.16	5.16	5.16	0.70880	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.71581	2.175	0.45554	D	0.998506	D;D	0.71674	0.993;0.998	P;D	0.75484	0.905;0.986	T	0.78740	-0.2086	10	0.87932	D	0	-9.1017	11.6684	0.51387	0.0:0.9137:0.0:0.0863	.	68;80	O43815-2;O43815	.;STRN_HUMAN	H	80;55;68	ENSP00000263918:Q80H;ENSP00000368513:Q68H	ENSP00000263918:Q80H	Q	-	3	2	STRN	37005850	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.289000	0.33307	2.376000	0.81061	0.650000	0.86243	CAG	STRN	-	pfam_Striatin_N		0.378	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	C			37152346	-1	no_errors	ENST00000263918	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37152346	C	G	37152346	3	3	185	1	0	0	0	0	1	0	0	0	15359	912	32	1	2170	1	STRN	2	37152346	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	181965	37152346	206047027	199	34474										
ZFP36L2	678	genome.wustl.edu	37	chr2	43452364	43452364	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaggtgcggcacagctcggtCttgtacttcggatggcgagt	15	9	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:43452364C>G	ENST00000282388.3	-	2	872	c.579G>C	c.(577-579)aaG>aaC	p.K193N	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	193	RNA-binding.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ACAGCTCGGTCTTGTACTTCG	0.657																																																	0													45	41	42					2																	43452364		2203	4300	6503	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.579G>C	2.37:g.43452364C>G	ENSP00000282388:p.Lys193Asn		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.K193N	ENST00000282388.3	37	c.579	CCDS1811.1	2	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348936	0.61183	.	.	ENSG00000152518	ENST00000282388	T	0.59083	0.29	4.44	4.44	0.53790	Zinc finger, CCCH-type (3);	0.128726	0.50627	N	0.000114	D	0.83119	0.5185	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.89272	0.3605	10	0.87932	D	0	-27.0877	15.9071	0.79439	0.0:1.0:0.0:0.0	.	193	P47974	TISD_HUMAN	N	193	ENSP00000282388:K193N	ENSP00000282388:K193N	K	-	3	2	ZFP36L2	43305868	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	1.703000	0.37846	2.025000	0.59659	0.555000	0.69702	AAG	ZFP36L2	-	pfam_Znf_CCCH,smart_Znf_CCCH		0.657	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	C	NM_006887		43452364	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	missense	SNP	1.000	G	G	43452364	C	G	43452364	3	3	185	1	0	0	0	0	1	0	0	0	17677	912	32	1	909	1	ZFP36L2	2	43452364	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6300018	43452364	199747009	200	34475										
PREPL	9581	genome.wustl.edu	37	chr2	44553900	44553900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gattagaattacacaatgctCctgcaagcacccctccagca	6	14	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:44553900C>T	ENST00000409936.1	-	11	2134	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	PREPL_ENST00000541738.1_Missense_Mutation_p.G477E|PREPL_ENST00000410081.1_Missense_Mutation_p.G566E|PREPL_ENST00000260648.6_Missense_Mutation_p.G566E|PREPL_ENST00000378520.3_Missense_Mutation_p.G500E|PREPL_ENST00000378511.3_Missense_Mutation_p.G504E|PREPL_ENST00000409411.1_Missense_Mutation_p.G477E|PREPL_ENST00000409272.1_Missense_Mutation_p.G566E|PREPL_ENST00000409957.1_Missense_Mutation_p.G477E	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	566						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACACAATGCTCCTGCAAGCAC	0.498																																																	0													98	91	94					2																	44553900		2203	4300	6503	SO:0001583	missense	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1697G>A	2.37:g.44553900C>T	ENSP00000386543:p.Gly566Glu		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.G566E	ENST00000409936.1	37	c.1697	CCDS33190.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601938	0.87055	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.63	5.63	0.86233	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.053917	0.85682	D	0.000000	T	0.73442	0.3587	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.81709	-0.0809	10	0.87932	D	0	-15.541	19.6697	0.95907	0.0:1.0:0.0:0.0	.	504;500;566	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	E	477;477;477;566;566;566;566;500;504	ENSP00000439626:G477E;ENSP00000387095:G477E;ENSP00000387241:G477E;ENSP00000386543:G566E;ENSP00000260648:G566E;ENSP00000386909:G566E;ENSP00000386509:G566E;ENSP00000367781:G500E;ENSP00000367772:G504E	ENSP00000260648:G566E	G	-	2	0	PREPL	44407404	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.564000	0.60830	2.661000	0.90470	0.491000	0.48974	GGA	PREPL	-	pfam_Peptidase_S9,prints_Peptidase_S9A		0.498	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	C	NM_006036		44553900	-1	no_errors	ENST00000260648	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44553900	C	T	44553900	3	4	185	1	0	0	0	0	1	0	0	0	12502	855	30	1	506	1	PREPL	2	44553900	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1101536	44553900	198645473	201	34476										
EPAS1	2034	genome.wustl.edu	37	chr2	46574200	46574200	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacacacaagctcctctcctCaggtaaggccagcaggctcc	8	16	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:46574200C>T	ENST00000263734.3	+	2	725	c.215C>T	c.(214-216)tCa>tTa	p.S72L	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	72					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.S72L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCCTCTCCTCAGGTAAGGCC	0.587																																																	1	Substitution - Missense(1)	lung(1)											99	90	93					2																	46574200		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.215C>T	2.37:g.46574200C>T	ENSP00000263734:p.Ser72Leu		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.S72L	ENST00000263734.3	37	c.215	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331363	0.81690	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.21932	1.98;1.98	4.82	4.82	0.62117	Helix-loop-helix DNA-binding (2);	0.607996	0.16340	N	0.218708	T	0.21801	0.0525	L	0.48935	1.535	0.80722	D	1	B	0.26400	0.148	B	0.20577	0.03	T	0.04481	-1.0948	9	.	.	.	.	18.1753	0.89759	0.0:1.0:0.0:0.0	.	72	Q99814	EPAS1_HUMAN	L	72	ENSP00000406137:S72L;ENSP00000263734:S72L	.	S	+	2	0	EPAS1	46427704	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.825000	0.69286	2.517000	0.84864	0.556000	0.70494	TCA	EPAS1	-	superfamily_HLH_dom,smart_HLH_dom		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	C	NM_001430		46574200	1	no_errors	ENST00000263734	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46574200	C	T	46574200	3	4	185	1	0	0	0	0	1	0	0	0	5162	838	29	1	221	1	EPAS1	2	46574200	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2020300	46574200	196625173	202	34477										
KLRAQ1	129285	genome.wustl.edu	37	chr2	48718244	48718244	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgagtggattcattagtcctCtttcagctgaatgcatgcta	9	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:48718244C>G	ENST00000294952.8	+	15	1691	c.1534C>G	c.(1534-1536)Ctt>Gtt	p.L512V	PPP1R21_ENST00000281394.4_Missense_Mutation_p.L512V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.L512V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	512						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CATTAGTCCTCTTTCAGCTGA	0.383																																																	0													136	127	130					2																	48718244		2203	4300	6503	SO:0001583	missense	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1534C>G	2.37:g.48718244C>G	ENSP00000294952:p.Leu512Val		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RNR-like	p.L512V	ENST00000294952.8	37	c.1534	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464843	0.26335	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.51	4.58	0.56647	.	0.185525	0.47852	D	0.000203	T	0.43964	0.1271	N	0.25890	0.77	0.39510	D	0.968346	B;B;B;B	0.11235	0.003;0.001;0.003;0.004	B;B;B;B	0.10450	0.005;0.004;0.004;0.003	T	0.30736	-0.9968	9	0.22706	T	0.39	-4.1035	14.7125	0.69244	0.0:0.7365:0.2634:0.0	.	512;512;512;512	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	V	512	.	ENSP00000281394:L512V	L	+	1	0	KLRAQ1	48571748	0.596000	0.26866	0.967000	0.41034	0.994000	0.84299	2.588000	0.46137	2.741000	0.93983	0.650000	0.86243	CTT	PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C		0.383	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	C	NM_152994		48718244	1	no_errors	ENST00000294952	ensembl	human	known	70_37	missense	SNP	0.981	G	G	48718244	C	G	48718244	3	3	185	1	0	0	0	0	1	0	0	0	8433	913	32	1	1592	1	KLRAQ1	2	48718244	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2144044	48718244	194481129	203	34478										
NRXN1	9378	genome.wustl.edu	37	chr2	50733678	50733678	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgttaactttaaactttttcCacgccgaactacacgcactg	5	12	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:50733678C>A	ENST00000406316.2	-	13	3928	c.2452G>T	c.(2452-2454)Gga>Tga	p.G818*	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G818*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G818*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G810*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G810*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.G858*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	818	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAACTTTTTCCACGCCGAACT	0.443																																																	0													130	132	132					2																	50733678		1939	4136	6075	SO:0001587	stop_gained	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2452G>T	2.37:g.50733678C>A	ENSP00000384311:p.Gly818*		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.G810*	ENST00000406316.2	37	c.2428	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	50	17.208731	0.99881	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.7	5.7	0.88788	.	0.051257	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	.	.	.	X	858;818;810;818;859;810;818	.	ENSP00000385017:G818X	G	-	1	0	NRXN1	50587182	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.695000	0.91970	0.561000	0.74099	GGA	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50733678	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	50733678	C	A	50733678	4	1	185	1	0	0	0	0	0	1	0	0	10689	603	21	4	2378	4	NRXN1	2	50733678	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2015434	50733678	192465695	204	34479										
ERLEC1	27248	genome.wustl.edu	37	chr2	54028725	54028725	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaatatgaagttgtcattttGacaccactcttgtgcagtca	8	8	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:54028725G>A	ENST00000185150.4	+	7	848	c.717G>A	c.(715-717)ttG>ttA	p.L239L	ERLEC1_ENST00000405123.3_Silent_p.L239L|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Silent_p.L239L	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	239					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTGTCATTTTGACACCACTCT	0.343																																																	0													68	60	63					2																	54028725		2203	4300	6503	SO:0001819	synonymous_variant	27248			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.717G>A	2.37:g.54028725G>A			B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L239	ENST00000185150.4	37	c.717	CCDS1848.1	2																																																																																			ERLEC1	-	superfamily_Man6P_isomerase_rcpt-bd_dom		0.343	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLEC1	HGNC	protein_coding	OTTHUMT00000251404.1	G	NM_015701		54028725	1	no_errors	ENST00000185150	ensembl	human	known	70_37	silent	SNP	1.000	A	A	54028725	G	A	54028725	2	1	185	1	0	0	0	0	0	0	0	1	5243	1281	45	1		1	ERLEC1	2	54028725	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3295047	54028725	189170648	205	34480										
SPTBN1	6711	genome.wustl.edu	37	chr2	54894740	54894740	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttcttccttgaaattacaGactaaatgatggcaatgagt	7	7	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:54894740G>C	ENST00000356805.4	+	35	7114		c.e35-1			NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			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)			TGAAATTACAGACTAAATGAT	0.393																																																	0													143	132	136					2																	54894740		2203	4300	6503	SO:0001630	splice_region_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6834-1G>C	2.37:g.54894740G>C			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Splice_Site	SNP	-	e34-1	ENST00000356805.4	37	c.6834-1	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734750	0.89482	.	.	ENSG00000115306	ENST00000356805	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN1	54748244	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.769000	0.98969	2.723000	0.93209	0.655000	0.94253	.	SPTBN1	-	-		0.393	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G		Intron	54894740	1	no_errors	ENST00000356805	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	54894740	G	C	54894740	5	2	185	1	0	0	0	0	0	0	1	0	15149	956	33	1	7167	1	SPTBN1	2	54894740	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	866015	54894740	188304633	206	34481										
CCDC88A	55704	genome.wustl.edu	37	chr2	55563907	55563907	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgcttaaattctgacaattCtgaagactttgcttttcttg	6	7	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:55563907C>T	ENST00000436346.1	-	14	2407	c.1566G>A	c.(1564-1566)caG>caA	p.Q522Q	CCDC88A_ENST00000263630.8_Silent_p.Q522Q|CCDC88A_ENST00000413716.2_Silent_p.Q522Q|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.Q522Q|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	522					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCTGACAATTCTGAAGACTTT	0.313																																																	0													64	64	64					2																	55563907		2202	4292	6494	SO:0001819	synonymous_variant	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1566G>A	2.37:g.55563907C>T			A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.Q522	ENST00000436346.1	37	c.1566		2																																																																																			CCDC88A	-	pfam_HOOK,superfamily_t-SNARE		0.313	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55563907	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	silent	SNP	1.000	T	T	55563907	C	T	55563907	2	4	185	1	0	0	0	0	0	0	0	1	2868	912	32	1		1	CCDC88A	2	55563907	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	669167	55563907	187635466	207	34482										
BCL11A	53335	genome.wustl.edu	37	chr2	60695969	60695969	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctccagtgcagaagtttatCtgtgaaagaaacccaaaatc	7	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:60695969C>G	ENST00000335712.6	-	3	613		c.e3-1		BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000359629.5_Splice_Site|BCL11A_ENST00000537768.1_Splice_Site|BCL11A_ENST00000477659.1_Splice_Site|BCL11A_ENST00000356842.4_Splice_Site	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGAAGTTTATCTGTGAAAGAA	0.458			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													54	55	54					2																	60695969		2203	4300	6503	SO:0001630	splice_region_variant	53335			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.386-1G>C	2.37:g.60695969C>G			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Splice_Site	SNP	-	e3-1	ENST00000335712.6	37	c.386-1	CCDS1862.1	2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834749	0.71373	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000335712	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1117	0.65126	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCL11A	60549473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.676000	0.37565	2.710000	0.92621	0.591000	0.81541	.	BCL11A	-	-		0.458	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	C	NM_022893	Intron	60695969	-1	no_errors	ENST00000335712	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	60695969	C	G	60695969	5	3	185	1	0	0	0	0	0	0	1	0	1364	927	32	1	2236	1	BCL11A	2	60695969	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5132062	60695969	182503404	208	34483										
MEIS1	4211	genome.wustl.edu	37	chr2	66664996	66664996	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacgggcctcctctgcactCgcatcagtacccgcacacag	8	19	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:66664996C>G	ENST00000272369.9	+	2	597	c.140C>G	c.(139-141)tCg>tGg	p.S47W	MEIS1_ENST00000488550.1_Missense_Mutation_p.S47W|MEIS1_ENST00000444274.2_Missense_Mutation_p.S15W|MEIS1_ENST00000560281.2_Missense_Mutation_p.S47W|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000407092.2_Missense_Mutation_p.S47W|MEIS1_ENST00000495021.2_5'Flank|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000398506.2_Missense_Mutation_p.S45W	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	47					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CCTCTGCACTCGCATCAGTAC	0.577																																																	0													41	45	43					2																	66664996		2108	4242	6350	SO:0001583	missense	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.140C>G	2.37:g.66664996C>G	ENSP00000272369:p.Ser47Trp		A8MV50	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S47W	ENST00000272369.9	37	c.140	CCDS46309.1	2	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806299	0.70682	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.66	5.66	0.87406	.	0.262242	0.37761	N	0.001959	T	0.45538	0.1347	N	0.19112	0.55	0.80722	D	1	D;D;D	0.59357	0.985;0.978;0.985	P;P;P	0.61800	0.894;0.708;0.894	T	0.47535	-0.9110	10	0.72032	D	0.01	.	19.3704	0.94481	0.0:1.0:0.0:0.0	.	45;47;47	O00470-2;O00470;F8W8U3	.;MEIS1_HUMAN;.	W	47;47;45;15	ENSP00000272369:S47W;ENSP00000384461:S47W;ENSP00000381518:S45W;ENSP00000403206:S15W	ENSP00000272369:S47W	S	+	2	0	MEIS1	66518500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.326000	0.79133	2.666000	0.90696	0.655000	0.94253	TCG	MEIS1	-	NULL		0.577	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	C	NM_002398		66664996	1	no_errors	ENST00000407092	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66664996	C	G	66664996	3	3	185	1	0	0	0	0	1	0	0	0	9490	893	31	1	146	1	MEIS1	2	66664996	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5969027	66664996	176534377	209	34484										
PROKR1	10887	genome.wustl.edu	37	chr2	68882657	68882657	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtgcagacctggacctcaaGacaattgggatgcctgccac	11	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:68882657G>A	ENST00000303786.3	+	3	1551	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	PROKR1_ENST00000394342.2_Silent_p.K377K			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	377					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGACCTCAAGACAATTGGGA	0.493																																																	0													66	62	64					2																	68882657		2203	4300	6503	SO:0001819	synonymous_variant	10887			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.1131G>A	2.37:g.68882657G>A			A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.K377	ENST00000303786.3	37	c.1131	CCDS1889.1	2																																																																																			PROKR1	-	NULL		0.493	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR1	HGNC	protein_coding	OTTHUMT00000251760.2	G			68882657	1	no_errors	ENST00000303786	ensembl	human	known	70_37	silent	SNP	1.000	A	A	68882657	G	A	68882657	2	1	185	1	0	0	0	0	0	0	0	1	12579	933	33	1		1	PROKR1	2	68882657	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2217661	68882657	174316716	210	34485										
AAK1	22848	genome.wustl.edu	37	chr2	69746217	69746217	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggggtgtggcctgggcctGagcgggcagaccctgggcct	19	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:69746217G>C	ENST00000409085.4	-	12	1742	c.1366C>G	c.(1366-1368)Cag>Gag	p.Q456E	AAK1_ENST00000406297.3_Missense_Mutation_p.Q456E|AAK1_ENST00000409068.1_Missense_Mutation_p.Q456E|RN7SL604P_ENST00000492589.2_RNA|SNORA36C_ENST00000384289.1_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	456	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCCTGGGCCTGAGCGGGCAGA	0.662																																																	0													37	42	40					2																	69746217		2113	4204	6317	SO:0001583	missense	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1366C>G	2.37:g.69746217G>C	ENSP00000386456:p.Gln456Glu		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q456E	ENST00000409085.4	37	c.1366	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262958	0.39995	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.33865	1.39;1.39;1.39	4.57	4.57	0.56435	.	2.923150	0.00550	N	0.000243	T	0.23572	0.0570	N	0.08118	0	0.22305	N	0.999215	B;B;B	0.15141	0.007;0.012;0.007	B;B;B	0.18263	0.009;0.021;0.006	T	0.23797	-1.0178	10	0.02654	T	1	-0.168	14.2027	0.65714	0.0:0.0:1.0:0.0	.	456;456;456	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	E	456	ENSP00000386342:Q456E;ENSP00000386456:Q456E;ENSP00000385181:Q456E	ENSP00000385181:Q456E	Q	-	1	0	AAK1	69599721	1.000000	0.71417	0.959000	0.39883	0.898000	0.52572	3.672000	0.54583	2.364000	0.80123	0.655000	0.94253	CAG	AAK1	-	NULL		0.662	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	G	NM_014911		69746217	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	missense	SNP	0.990	C	C	69746217	G	C	69746217	3	2	185	1	0	0	0	0	1	0	0	0	16	1299	45	1	1563	1	AAK1	2	69746217	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	863560	69746217	173453156	211	34486										
EXOC6B	23233	genome.wustl.edu	37	chr2	72727091	72727091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctaacacaaggtttggatcaGaacagtaagactaaagtaaa	8	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:72727091G>A	ENST00000272427.6	-	12	1308	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	EXOC6B_ENST00000410104.1_Missense_Mutation_p.S393F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	393					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTTTGGATCAGAACAGTAAGA	0.299																																																	0													59	51	53					2																	72727091		1815	4004	5819	SO:0001583	missense	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1178C>T	2.37:g.72727091G>A	ENSP00000272427:p.Ser393Phe		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.S393F	ENST00000272427.6	37	c.1178	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197617	0.79015	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.30981	1.51;1.51	5.16	5.16	0.70880	.	0.123114	0.56097	D	0.000024	T	0.36552	0.0971	L	0.42245	1.32	0.49483	D	0.999794	P;P	0.50943	0.94;0.905	P;P	0.49085	0.459;0.6	T	0.04635	-1.0937	10	0.46703	T	0.11	.	16.1933	0.82006	0.0:0.0:1.0:0.0	.	393;393	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	F	393	ENSP00000272427:S393F;ENSP00000386698:S393F	ENSP00000272427:S393F	S	-	2	0	EXOC6B	72580599	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.593000	0.67550	2.696000	0.92011	0.655000	0.94253	TCT	EXOC6B	-	pirsf_Sec15		0.299	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	G	XM_039570		72727091	-1	no_errors	ENST00000272427	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72727091	G	A	72727091	3	1	185	1	0	0	0	0	1	0	0	0	5321	942	33	1	1301	1	EXOC6B	2	72727091	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2980874	72727091	170472282	212	34487										
ALMS1	7840	genome.wustl.edu	37	chr2	73828372	73828372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggagtctagatcaaagaagGaaaacgtgcctaacacttgt	10	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:73828372G>A	ENST00000264448.6	+	19	12031	c.11920G>A	c.(11920-11922)Gaa>Aaa	p.E3974K	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.E3932K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3974					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATCAAAGAAGGAAAACGTGCC	0.468																																																	0													112	123	119					2																	73828372		2188	4296	6484	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11920G>A	2.37:g.73828372G>A	ENSP00000264448:p.Glu3974Lys		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E3974K	ENST00000264448.6	37	c.11920	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339135	0.81911	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.10477	2.87;2.87	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000010	T	0.27313	0.0670	L	0.46157	1.445	0.44289	D	0.99715	D;D	0.71674	0.996;0.998	D;D	0.80764	0.974;0.994	T	0.00271	-1.1859	10	0.72032	D	0.01	.	16.2168	0.82237	0.0:0.0:1.0:0.0	.	3932;3974	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	K	3932;3974	ENSP00000386627:E3932K;ENSP00000264448:E3974K	ENSP00000264448:E3974K	E	+	1	0	ALMS1	73681880	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	6.756000	0.74919	2.701000	0.92244	0.561000	0.74099	GAA	ALMS1	-	NULL		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73828372	1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73828372	G	A	73828372	3	1	185	1	0	0	0	0	1	0	0	0	535	1175	41	1	11994	1	ALMS1	2	73828372	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1101281	73828372	169371001	213	34488										
C2orf78	388960	genome.wustl.edu	37	chr2	74044096	74044096	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaagagatatggaaattgctGaatactatggctacacaatc	8	6	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:74044096G>C	ENST00000409561.1	+	3	2867	c.2746G>C	c.(2746-2748)Gaa>Caa	p.E916Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	916										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GGAAATTGCTGAATACTATGG	0.373																																																	0													28	30	29					2																	74044096		1862	4103	5965	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2746G>C	2.37:g.74044096G>C	ENSP00000387124:p.Glu916Gln			Missense_Mutation	SNP	NULL	p.E916Q	ENST00000409561.1	37	c.2746	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	G	1.083	-0.666483	0.03428	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.40756	1.02	5.34	-2.54	0.06307	.	1.147640	0.06701	N	0.771511	T	0.08846	0.0219	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35301	-0.9794	10	0.02654	T	1	1.6294	4.6451	0.12568	0.1182:0.2644:0.477:0.1404	.	916	A6NCI8	CB078_HUMAN	Q	916;886	ENSP00000387124:E916Q	ENSP00000340692:E886Q	E	+	1	0	C2orf78	73897604	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.005000	0.13129	-0.127000	0.11661	-1.350000	0.01237	GAA	C2orf78	-	NULL		0.373	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	G	NM_001080474		74044096	1	no_errors	ENST00000409561	ensembl	human	novel	70_37	missense	SNP	0.000	C	C	74044096	G	C	74044096	3	2	185	1	0	0	0	0	1	0	0	0	2200	1291	45	1	2756	1	C2orf78	2	74044096	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	215724	74044096	169155277	214	34489										
WBP1	23559	genome.wustl.edu	37	chr2	74685760	74685760	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagcagcgggaacggcagcGaggaggcctggggggcactt	19	11	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:74685760G>C	ENST00000233615.2	+	1	305	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	WBP1_ENST00000409737.1_Missense_Mutation_p.E11Q|WBP1_ENST00000393972.3_Missense_Mutation_p.E11Q|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	11							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GAACGGCAGCGAGGAGGCCTG	0.647																																																	0													14	15	15					2																	74685760		2168	4240	6408	SO:0001583	missense	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.31G>C	2.37:g.74685760G>C	ENSP00000233615:p.Glu11Gln		B2RE02|O95637	Missense_Mutation	SNP	pfam_Uncharacterised_WW-bd	p.E11Q	ENST00000233615.2	37	c.31	CCDS1943.1	2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890314	0.52014	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737	.	.	.	5.14	4.23	0.50019	.	.	.	.	.	T	0.29817	0.0745	N	0.19112	0.55	0.27043	N	0.963979	B;B	0.32203	0.36;0.36	B;B	0.33846	0.119;0.171	T	0.13361	-1.0512	8	0.48119	T	0.1	-9.1503	10.7168	0.46017	0.0:0.2084:0.7916:0.0	.	11;11	B8ZZ95;Q96G27	.;WBP1_HUMAN	Q	11	.	ENSP00000233615:E11Q	E	+	1	0	WBP1	74539268	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.823000	0.48081	2.676000	0.91093	0.561000	0.74099	GAG	WBP1	-	NULL		0.647	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WBP1	HGNC	protein_coding	OTTHUMT00000252221.2	G	NM_012477		74685760	1	no_errors	ENST00000233615	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74685760	G	C	74685760	3	2	185	1	0	0	0	0	1	0	0	0	17288	1059	37	1	33	1	WBP1	2	74685760	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	641664	74685760	168513613	215	34490										
SEMA4F	10505	genome.wustl.edu	37	chr2	74900842	74900842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgtggccttgagcccagccGaatggggggatgaagatgga	17	9	0	3	rs199684823		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:74900842G>A	ENST00000357877.2	+	7	858	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	237	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GAGCCCAGCCGAATGGGGGGA	0.562																																																	0													72	73	72					2																	74900842		2203	4300	6503	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.709G>A	2.37:g.74900842G>A	ENSP00000350547:p.Glu237Lys		Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.E237K	ENST00000357877.2	37	c.709	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291466	0.23564	.	.	ENSG00000135622	ENST00000357877	T	0.11063	2.81	4.26	3.37	0.38596	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	44.320000	0.00166	N	0.000000	T	0.06554	0.0168	N	0.08118	0	0.19300	N	0.999973	B	0.20780	0.048	B	0.17722	0.019	T	0.33369	-0.9871	10	0.06494	T	0.89	.	9.5549	0.39332	0.0:0.0:0.7904:0.2096	.	237	O95754	SEM4F_HUMAN	K	237	ENSP00000350547:E237K	ENSP00000350547:E237K	E	+	1	0	SEMA4F	74754350	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.733000	0.62036	1.128000	0.42052	0.462000	0.41574	GAA	SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.562	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	G	NM_004263		74900842	1	no_errors	ENST00000357877	ensembl	human	known	70_37	missense	SNP	0.304	A	A	74900842	G	A	74900842	3	1	185	1	0	0	0	0	1	0	0	0	14065	1059	37	1	735	1	SEMA4F	2	74900842	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	215082	74900842	168298531	216	34491										
HK2	3099	genome.wustl.edu	37	chr2	75108881	75108881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaccttggaggaacaaatttCcgggtcctgctggtccgtgt	13	10	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:75108881C>A	ENST00000290573.2	+	11	2214	c.1614C>A	c.(1612-1614)ttC>ttA	p.F538L	HK2_ENST00000409174.1_Missense_Mutation_p.F510L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	538	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.F538F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAACAAATTTCCGGGTCCTGC	0.557																																																	1	Substitution - coding silent(1)	breast(1)											83	80	81					2																	75108881		2203	4300	6503	SO:0001583	missense	3099				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1614C>A	2.37:g.75108881C>A	ENSP00000290573:p.Phe538Leu		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.F538L	ENST00000290573.2	37	c.1614	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347431	0.61183	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98633	-5.04;-5.04	5.25	4.38	0.52667	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	M	0.63208	1.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.99184	1.0868	10	0.59425	D	0.04	-25.7677	11.9803	0.53115	0.0:0.9161:0.0:0.0839	.	538	P52789	HXK2_HUMAN	L	538;538;510	ENSP00000290573:F538L;ENSP00000387140:F510L	ENSP00000290573:F538L	F	+	3	2	HK2	74962389	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.021000	0.41020	1.591000	0.50007	-0.140000	0.14226	TTC	HK2	-	pfam_Hexokinase_N,prints_Hexokinase		0.557	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	C	NM_000189		75108881	1	no_errors	ENST00000290573	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75108881	C	A	75108881	3	1	185	1	0	0	0	0	1	0	0	0	7211	854	30	3	1656	3	HK2	2	75108881	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	208039	75108881	168090492	217	34492										
TGOLN2	10618	genome.wustl.edu	37	chr2	85553825	85553825	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcagaaccggacatcttttCtttctcttctttgggcggtg	11	10	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:85553825C>G	ENST00000409232.3	-	2	1091	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	TGOLN2_ENST00000409015.1_Missense_Mutation_p.E344Q|TGOLN2_ENST00000377386.3_Missense_Mutation_p.E344Q|TGOLN2_ENST00000282120.2_Missense_Mutation_p.E188Q|TGOLN2_ENST00000444342.2_Missense_Mutation_p.E344Q|TGOLN2_ENST00000398263.2_Missense_Mutation_p.E286Q			O43493	TGON2_HUMAN	trans-golgi network protein 2	344						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											GACATCTTTTCTTTCTCTTCT	0.517																																																	0													73	72	72					2																	85553825		1890	4121	6011	SO:0001583	missense	10618			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1030G>C	2.37:g.85553825C>G	ENSP00000386443:p.Glu344Gln		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	NULL	p.E344Q	ENST00000409232.3	37	c.1030	CCDS56126.1	2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368370	0.61513	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.16597	2.62;2.48;2.33;2.64;2.6;2.61	3.91	2.99	0.34606	.	.	.	.	.	T	0.33030	0.0849	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.87578	0.998;0.998;0.998;0.919	T	0.05305	-1.0893	9	0.45353	T	0.12	.	6.8678	0.24102	0.0:0.863:0.0:0.137	.	344;344;286;344	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	Q	344;188;286;344;344;344	ENSP00000366603:E344Q;ENSP00000282120:E188Q;ENSP00000381312:E286Q;ENSP00000386443:E344Q;ENSP00000387035:E344Q;ENSP00000391190:E344Q	ENSP00000282120:E188Q	E	-	1	0	TGOLN2	85407336	0.000000	0.05858	0.125000	0.21846	0.064000	0.16182	0.253000	0.18296	0.917000	0.36895	0.655000	0.94253	GAA	TGOLN2	-	NULL		0.517	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	C	NM_006464		85553825	-1	no_errors	ENST00000377386	ensembl	human	known	70_37	missense	SNP	0.114	G	G	85553825	C	G	85553825	3	3	185	1	0	0	0	0	1	0	0	0	15866	922	32	1	295	1	TGOLN2	2	85553825	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10444944	85553825	157645548	218	34493										
POLR1A	25885	genome.wustl.edu	37	chr2	86269049	86269049	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgatttctcataactcttctCtgtttgagctgcccactctt	5	12	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:86269049C>G	ENST00000263857.6	-	24	3913	c.3535G>C	c.(3535-3537)Gag>Cag	p.E1179Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1179Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1179					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TAACTCTTCTCTGTTTGAGCT	0.463																																																	0													150	145	147					2																	86269049		1945	4160	6105	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3535G>C	2.37:g.86269049C>G	ENSP00000263857:p.Glu1179Gln		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.E1179Q	ENST00000263857.6	37	c.3535	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464408	0.26335	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.67345	-0.26;-0.26	5.28	5.28	0.74379	RNA polymerase Rpb1, domain 5 (1);	0.341722	0.30374	N	0.009780	T	0.65863	0.2732	L	0.39085	1.19	0.22081	N	0.999377	P;P	0.45078	0.85;0.85	P;P	0.54174	0.58;0.744	T	0.56001	-0.8051	10	0.14252	T	0.57	-32.1416	12.7175	0.57123	0.0:0.9139:0.0:0.0861	.	545;1179	B7Z8X7;O95602	.;RPA1_HUMAN	Q	1179	ENSP00000263857:E1179Q;ENSP00000386300:E1179Q	ENSP00000263857:E1179Q	E	-	1	0	POLR1A	86122560	0.032000	0.19561	0.614000	0.29051	0.240000	0.25518	1.291000	0.33330	2.486000	0.83907	0.655000	0.94253	GAG	POLR1A	-	pfam_RNA_pol_Rpb1_5		0.463	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86269049	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	missense	SNP	0.176	G	G	86269049	C	G	86269049	3	3	185	1	0	0	0	0	1	0	0	0	12233	922	32	1	1671	1	POLR1A	2	86269049	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	715224	86269049	156930324	219	34494										
CD8B	926	genome.wustl.edu	37	chr2	87085223	87085223	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgaaggtcagctcggggctCccgacgatcatgcagaagta	13	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:87085223C>T	ENST00000390655.6	-	2	418	c.360G>A	c.(358-360)ggG>ggA	p.G120G	CD8B_ENST00000331469.2_Silent_p.G120G|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Silent_p.G120G|CD8B_ENST00000393759.2_Silent_p.G120G|CD8B_ENST00000349455.3_Silent_p.G120G	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	120	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCGGGGCTCCCGACGATCA	0.547																																																	0													109	109	109					2																	87085223		2203	4300	6503	SO:0001819	synonymous_variant	926				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.360G>A	2.37:g.87085223C>T			P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G120	ENST00000390655.6	37	c.360	CCDS1997.1	2																																																																																			CD8B	-	pfam_Ig_V-set,smart_Ig_sub		0.547	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD8B	HGNC	protein_coding	OTTHUMT00000330402.1	C	NM_172099		87085223	-1	no_errors	ENST00000331469	ensembl	human	known	70_37	silent	SNP	0.000	T	T	87085223	C	T	87085223	2	4	185	1	0	0	0	0	0	0	0	1	3050	842	30	1		1	CD8B	2	87085223	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	816174	87085223	156114150	220	34495										
ZAP70	7535	genome.wustl.edu	37	chr2	98351063	98351063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcccctacagcgacccagagGagctcaaggacaagaagctc	11	14	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:98351063G>A	ENST00000264972.5	+	9	1185	c.970G>A	c.(970-972)Gag>Aag	p.E324K	ZAP70_ENST00000451498.2_Missense_Mutation_p.E17K|ZAP70_ENST00000442208.1_Missense_Mutation_p.E198K|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	324	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGACCCAGAGGAGCTCAAGGA	0.587																																																	0													136	115	122					2																	98351063		2203	4300	6503	SO:0001583	missense	7535			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.970G>A	2.37:g.98351063G>A	ENSP00000264972:p.Glu324Lys		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E324K	ENST00000264972.5	37	c.970	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.390583	0.95988	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.73047	-0.71;-0.7;-0.61	5.41	5.41	0.78517	Protein kinase-like domain (1);	0.000000	0.50627	D	0.000112	D	0.83788	0.5330	M	0.77820	2.39	0.80722	D	1	D;D	0.67145	0.996;0.986	D;P	0.67103	0.949;0.84	D	0.85559	0.1226	10	0.87932	D	0	.	17.0749	0.86583	0.0:0.0:1.0:0.0	.	198;324	P43403-3;P43403	.;ZAP70_HUMAN	K	324;198;17	ENSP00000264972:E324K;ENSP00000411141:E198K;ENSP00000400475:E17K	ENSP00000264972:E324K	E	+	1	0	ZAP70	97717495	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	GAG	ZAP70	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.587	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	G			98351063	1	no_errors	ENST00000264972	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98351063	G	A	98351063	3	1	185	1	0	0	0	0	1	0	0	0	17545	1175	41	1	996	1	ZAP70	2	98351063	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11265840	98351063	144848310	221	34496										
TMEM131	23505	genome.wustl.edu	37	chr2	98412696	98412696	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttacaatatgattatatctCtagaagcattggcacttaga	6	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:98412696C>T	ENST00000186436.5	-	28	3413	c.3185G>A	c.(3184-3186)aGa>aAa	p.R1062K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1062						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GATTATATCTCTAGAAGCATT	0.308																																																	0													60	53	55					2																	98412696		1806	4053	5859	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3185G>A	2.37:g.98412696C>T	ENSP00000186436:p.Arg1062Lys			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.R1062K	ENST00000186436.5	37	c.3185	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474608	0.43942	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.28895	1.59	5.93	2.69	0.31865	.	0.136558	0.64402	N	0.000003	T	0.10852	0.0265	N	0.03224	-0.385	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16041	-1.0416	10	0.07813	T	0.8	-11.2577	7.9908	0.30239	0.0:0.2434:0.0:0.7566	.	1062	Q92545	TM131_HUMAN	K	1062;41	ENSP00000186436:R1062K	ENSP00000186436:R1062K	R	-	2	0	TMEM131	97779128	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	2.087000	0.41653	0.284000	0.22305	0.655000	0.94253	AGA	TMEM131	-	NULL		0.308	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98412696	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98412696	C	T	98412696	3	4	185	1	0	0	0	0	1	0	0	0	16074	913	32	1	2522	1	TMEM131	2	98412696	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	61633	98412696	144786677	222	34497										
VWA3B	200403	genome.wustl.edu	37	chr2	98737818	98737818	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tactcctgtgaccgaacagtCcatagctactgccatcagtt	7	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:98737818C>G	ENST00000477737.1	+	5	803	c.599C>G	c.(598-600)tCc>tGc	p.S200C	VWA3B_ENST00000435344.1_Missense_Mutation_p.S200C|VWA3B_ENST00000451075.2_Missense_Mutation_p.S50C	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	200										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCGAACAGTCCATAGCTACT	0.547																																																	0													90	96	94					2																	98737818		2004	4184	6188	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.599C>G	2.37:g.98737818C>G	ENSP00000417955:p.Ser200Cys		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S200C	ENST00000477737.1	37	c.599	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	C	9.242	1.038435	0.19669	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.16743	2.99;2.99;2.32	5.33	4.4	0.53042	.	0.193413	0.37095	N	0.002256	T	0.24774	0.0601	M	0.67953	2.075	0.09310	N	0.999998	B;B;B	0.34015	0.131;0.414;0.435	B;B;B	0.38378	0.057;0.272;0.178	T	0.18366	-1.0339	10	0.87932	D	0	.	14.8884	0.70587	0.1434:0.8566:0.0:0.0	.	50;200;200	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	C	200;200;50	ENSP00000401959:S200C;ENSP00000417955:S200C;ENSP00000389463:S50C	ENSP00000411168:S200C	S	+	2	0	VWA3B	98104250	0.322000	0.24634	0.098000	0.21074	0.086000	0.17979	1.440000	0.35024	2.669000	0.90835	0.655000	0.94253	TCC	VWA3B	-	NULL		0.547	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	C	NM_144992		98737818	1	no_errors	ENST00000477737	ensembl	human	known	70_37	missense	SNP	0.327	G	G	98737818	C	G	98737818	3	3	185	1	0	0	0	0	1	0	0	0	17272	855	30	1	613	1	VWA3B	2	98737818	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	325122	98737818	144461555	223	34498										
CNGA3	1261	genome.wustl.edu	37	chr2	98996712	98996712	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaggaccagggaccggactCttttcctgatcgtttccgtg	11	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:98996712C>G	ENST00000272602.2	+	3	329	c.290C>G	c.(289-291)tCt>tGt	p.S97C	CNGA3_ENST00000393504.1_Missense_Mutation_p.S97C|CNGA3_ENST00000436404.2_Missense_Mutation_p.S97C|CNGA3_ENST00000409937.1_Missense_Mutation_p.S101C			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	97					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGACCGGACTCTTTTCCTGAT	0.607																																																	0													75	71	72					2																	98996712		2203	4300	6503	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.290C>G	2.37:g.98996712C>G	ENSP00000272602:p.Ser97Cys		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S97C	ENST00000272602.2	37	c.290	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988106	0.53934	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.28	5.28	0.74379	.	0.408403	0.26903	N	0.021920	T	0.74382	0.3709	M	0.77313	2.365	0.35835	D	0.825627	D;D;D	0.76494	0.977;0.989;0.999	P;P;P	0.62014	0.717;0.815;0.897	T	0.81998	-0.0675	10	0.87932	D	0	.	15.9324	0.79675	0.0:1.0:0.0:0.0	.	101;97;97	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	C	97;97;97;101	ENSP00000377140:S97C;ENSP00000410070:S97C;ENSP00000272602:S97C;ENSP00000386761:S101C	ENSP00000272602:S97C	S	+	2	0	CNGA3	98363144	1.000000	0.71417	0.948000	0.38648	0.003000	0.03518	5.406000	0.66357	2.755000	0.94549	0.655000	0.94253	TCT	CNGA3	-	NULL		0.607	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	C	NM_001298		98996712	1	no_errors	ENST00000272602	ensembl	human	known	70_37	missense	SNP	1.000	G	G	98996712	C	G	98996712	3	3	185	1	0	0	0	0	1	0	0	0	3603	913	32	1	300	1	CNGA3	2	98996712	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	258894	98996712	144202661	224	34499										
C2orf40	84417	genome.wustl.edu	37	chr2	106690478	106690478	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagtggtaccagcagtttctCtacatgggctttgacgaagc	11	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:106690478C>T	ENST00000238044.3	+	3	373	c.264C>T	c.(262-264)ctC>ctT	p.L88L	C2orf40_ENST00000409944.1_Silent_p.L52L|C2orf40_ENST00000489174.1_3'UTR	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	88					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						AGCAGTTTCTCTACATGGGCT	0.607																																																	0													70	73	72					2																	106690478		2203	4300	6503	SO:0001819	synonymous_variant	84417			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.264C>T	2.37:g.106690478C>T			D3DVK2	Silent	SNP	NULL	p.L88	ENST00000238044.3	37	c.264	CCDS2072.1	2																																																																																			C2orf40	-	NULL		0.607	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf40	HGNC	protein_coding	OTTHUMT00000253515.2	C	NM_032411		106690478	1	no_errors	ENST00000238044	ensembl	human	known	70_37	silent	SNP	0.999	T	T	106690478	C	T	106690478	2	4	185	1	0	0	0	0	0	0	0	1	2170	900	32	1		1	C2orf40	2	106690478	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7693766	106690478	136508895	225	34500										
RGPD3	653489	genome.wustl.edu	37	chr2	107041359	107041359	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ataggcatcatcatctttctCaaagtcaccggaagtgtttg	8	9	5	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:107041359C>T	ENST00000409886.3	-	20	3151	c.3064G>A	c.(3064-3066)Gag>Aag	p.E1022K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1022K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1022					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCATCTTTCTCAAAGTCACCG	0.383																																																	0													1	2	1					2																	107041359		359	877	1236	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3064G>A	2.37:g.107041359C>T	ENSP00000386588:p.Glu1022Lys		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1022K	ENST00000409886.3	37	c.3064	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	12.37	1.917853	0.33815	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.49432	0.78;0.78	2.35	2.35	0.29111	.	.	.	.	.	T	0.63094	0.2482	M	0.81341	2.54	0.24187	N	0.995565	D	0.76494	0.999	D	0.78314	0.991	T	0.53322	-0.8455	9	0.14656	T	0.56	-29.7867	8.221	0.31541	0.0:1.0:0.0:0.0	.	1022	A6NKT7	RGPD3_HUMAN	K	1022;780;1022	ENSP00000386588:E1022K;ENSP00000303659:E1022K	ENSP00000303659:E1022K	E	-	1	0	RGPD3	106407791	1.000000	0.71417	0.927000	0.36925	0.517000	0.34286	5.517000	0.67061	1.314000	0.45095	0.186000	0.17326	GAG	RGPD3	-	NULL		0.383	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	C	XM_929931		107041359	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	missense	SNP	0.997	T	T	107041359	C	T	107041359	3	4	185	1	0	0	0	0	1	0	0	0	13317	835	29	1	2228	1	RGPD3	2	107041359	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	350881	107041359	136158014	226	34501										
LIMS1	3987	genome.wustl.edu	37	chr2	109276125	109276125	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agggcggctttgcgcccgctGagaagatcgtgaacagtaat	14	9	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:109276125G>A	ENST00000393310.1	+	2	228	c.61G>A	c.(61-63)Gag>Aag	p.E21K	LIMS1_ENST00000410093.1_Missense_Mutation_p.E25K|LIMS1_ENST00000332345.6_Missense_Mutation_p.E21K|LIMS1_ENST00000393314.2_Missense_Mutation_p.E83K|LIMS1_ENST00000338045.3_Missense_Mutation_p.E21K|LIMS1_ENST00000542845.1_Missense_Mutation_p.E83K|LIMS1_ENST00000409441.1_Missense_Mutation_p.E58K|LIMS1_ENST00000544547.1_Missense_Mutation_p.E33K|LIMS1_ENST00000462817.1_3'UTR	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	21	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TGCGCCCGCTGAGAAGATCGT	0.577																																																	0													174	129	144					2																	109276125		2203	4300	6503	SO:0001583	missense	3987				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.61G>A	2.37:g.109276125G>A	ENSP00000376987:p.Glu21Lys		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM	p.E83K	ENST00000393310.1	37	c.247	CCDS2078.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.598548	0.96614	.	.	ENSG00000169756	ENST00000544547;ENST00000428064;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845;ENST00000393314	D;D;D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.63	4.63	0.57726	Zinc finger, LIM-type (5);	0.077333	0.49305	D	0.000156	D	0.95595	0.8568	H	0.96460	3.825	0.80722	D	1	D;D;D;D	0.71674	0.996;0.996;0.998;0.996	D;D;D;D	0.71414	0.973;0.954;0.96;0.933	D	0.97190	0.9857	10	0.87932	D	0	.	17.6679	0.88208	0.0:0.0:1.0:0.0	.	83;58;21;33	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	K	33;33;21;21;25;58;21;83;83	ENSP00000437912:E33K;ENSP00000390862:E33K;ENSP00000331775:E21K;ENSP00000376987:E21K;ENSP00000386926:E25K;ENSP00000387264:E58K;ENSP00000337598:E21K;ENSP00000446121:E83K;ENSP00000376990:E83K	ENSP00000331775:E21K	E	+	1	0	LIMS1	108642557	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	9.652000	0.98499	2.392000	0.81423	0.563000	0.77884	GAG	LIMS1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM		0.577	LIMS1-001	KNOWN	basic|CCDS	protein_coding	LIMS1	HGNC	protein_coding	OTTHUMT00000253596.1	G	NM_004987		109276125	1	no_errors	ENST00000542845	ensembl	human	known	70_37	missense	SNP	1.000	A	A	109276125	G	A	109276125	3	1	185	1	0	0	0	0	1	0	0	0	8823	1291	45	1	63	1	LIMS1	2	109276125	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2234766	109276125	133923248	227	34502										
BUB1	699	genome.wustl.edu	37	chr2	111416087	111416087	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtaggagcctgaaacatattCatgatgaaaccttaaagaac	8	7	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:111416087C>T	ENST00000302759.6	-	13	1534	c.1416G>A	c.(1414-1416)atG>atA	p.M472I	BUB1_ENST00000535254.1_Missense_Mutation_p.M452I|BUB1_ENST00000409311.1_Missense_Mutation_p.M472I	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	472	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GAAACATATTCATGATGAAAC	0.338																																																	0													97	94	95					2																	111416087		2203	4300	6503	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1416G>A	2.37:g.111416087C>T	ENSP00000302530:p.Met472Ile		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.M472I	ENST00000302759.6	37	c.1416	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671425	0.88348	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.59083	1.17;0.29;1.44	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74191	0.3684	M	0.65498	2.005	0.53688	D	0.999976	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.83275	0.991;0.996;0.993	T	0.66818	-0.5827	10	0.22706	T	0.39	-24.3956	18.3537	0.90348	0.0:1.0:0.0:0.0	.	452;472;472	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	I	452;472;472;472	ENSP00000441013:M452I;ENSP00000386701:M472I;ENSP00000302530:M472I	ENSP00000302530:M472I	M	-	3	0	BUB1	111132560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.516000	0.67055	2.937000	0.99478	0.650000	0.86243	ATG	BUB1	-	NULL		0.338	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	C	NM_004336		111416087	-1	no_errors	ENST00000302759	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111416087	C	T	111416087	3	4	185	1	0	0	0	0	1	0	0	0	1573	826	29	1	1893	1	BUB1	2	111416087	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2139962	111416087	131783286	228	34503										
IL1A	3552	genome.wustl.edu	37	chr2	113535661	113535661	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttttagcatcatcctttgatGacttataagcacccatgtca	5	10	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:113535661G>A	ENST00000263339.3	-	6	673	c.518C>T	c.(517-519)tCa>tTa	p.S173L		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	173					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	ATCCTTTGATGACTTATAAGC	0.353																																																	0													132	123	126					2																	113535661		2203	4300	6503	SO:0001583	missense	3552			M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.518C>T	2.37:g.113535661G>A	ENSP00000263339:p.Ser173Leu		Q53QF9|Q7RU02	Missense_Mutation	SNP	pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1	p.S173L	ENST00000263339.3	37	c.518	CCDS2101.1	2	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365317	0.61513	.	.	ENSG00000115008	ENST00000263339	T	0.20598	2.06	5.48	-3.18	0.05186	.	1.125730	0.06769	N	0.783180	T	0.20740	0.0499	M	0.80746	2.51	0.09310	N	1	P	0.39847	0.691	B	0.33454	0.164	T	0.30822	-0.9965	10	0.54805	T	0.06	-23.8437	4.4969	0.11842	0.4406:0.0:0.221:0.3384	.	173	P01583	IL1A_HUMAN	L	173	ENSP00000263339:S173L	ENSP00000263339:S173L	S	-	2	0	IL1A	113252132	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	2.008000	0.40893	-0.413000	0.07507	-0.150000	0.13652	TCA	IL1A	-	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB		0.353	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1A	HGNC	protein_coding	OTTHUMT00000254084.1	G	NM_000575		113535661	-1	no_errors	ENST00000263339	ensembl	human	known	70_37	missense	SNP	0.000	A	A	113535661	G	A	113535661	3	1	185	1	0	0	0	0	1	0	0	0	7670	1294	45	1	305	1	IL1A	2	113535661	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2119574	113535661	129663712	229	34504										
TMEM37	6344	genome.wustl.edu	37	chr2	120194804	120194804	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtgcgaggacaaacactcaCagtgcaagtgggtcatgggt	14	8	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:120194804C>G	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Missense_Mutation_p.Q133E|TMEM37_ENST00000306406.4_Missense_Mutation_p.Q121E	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CAAACACTCACAGTGCAAGTG	0.602																																																	0													153	145	148					2																	120194804		2203	4300	6503	SO:0001628	intergenic_variant	140738				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194804C>G			Q12961|Q13213|Q53T00	Missense_Mutation	SNP	NULL	p.Q121E	ENST00000019103.5	37	c.361	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	C	3.511	-0.099826	0.07010	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.83	0.648	0.17801	.	0.470065	0.19972	N	0.101970	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14811	-1.0459	9	0.54805	T	0.06	-16.4289	5.6321	0.17516	0.3628:0.4719:0.0:0.1653	.	121	Q8WXS4	CCGL_HUMAN	E	133;121	.	ENSP00000303148:Q121E	Q	+	1	0	TMEM37	119911274	0.146000	0.22672	0.218000	0.23776	0.021000	0.10359	0.628000	0.24522	0.223000	0.20920	-0.314000	0.08810	CAG	TMEM37	-	NULL		0.602	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM37	HGNC	protein_coding	OTTHUMT00000254198.2	C			120194804	1	no_errors	ENST00000306406	ensembl	human	known	70_37	missense	SNP	0.012	G	G	120194804	C	G	120194804	1	3	185	0	1	0	0	0	0	0	0	0	16188	479	17	4		4	TMEM37	2	120194804	IGR	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6659143	120194804	123004569	230	34505										
CNTNAP5	129684	genome.wustl.edu	37	chr2	125175029	125175029	+	Frame_Shift_Del	DEL	G	G	-													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttctctgcagacctttgcaGgaaacatgaatgctgacagc							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:125175029delG	ENST00000431078.1	+	4	755	c.391delG	c.(391-393)ggafs	p.G131fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	131	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACCTTTGCAGGAAACATGAA	0.488																																																	0													78	77	77					2																	125175029		1994	4189	6183	SO:0001589	frameshift_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.391delG	2.37:g.125175029delG	ENSP00000399013:p.Gly131fs		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G131fs	ENST00000431078.1	37	c.391	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	G			125175029	1	no_errors	ENST00000431078	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	125175029	G	-	125175029	7	5	185	1	0	1	0	1	0	0	0	0	3655	1001	35	0	405	0	CNTNAP5	2	125175029	Frame_Shift_Del	DEL	G	TCGA-Q1-A73O-01A-11D-A32I-09	4980225	125175029	118024344	231	34506										
WDR33	55339	genome.wustl.edu	37	chr2	128481925	128481925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acctagtatggtcatttgagCctgagcagagaatatgccca	10	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:128481925C>T	ENST00000322313.4	-	11	1336	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	393					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTCATTTGAGCCTGAGCAGAG	0.418																																																	0													107	99	102					2																	128481925		2203	4300	6503	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1178G>A	2.37:g.128481925C>T	ENSP00000325377:p.Gly393Asp		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G393D	ENST00000322313.4	37	c.1178	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262842	0.80358	.	.	ENSG00000136709	ENST00000322313	T	0.72167	-0.63	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88930	0.6571	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91125	0.4933	10	0.87932	D	0	-6.8946	19.8024	0.96513	0.0:1.0:0.0:0.0	.	393	Q9C0J8	WDR33_HUMAN	D	393	ENSP00000325377:G393D	ENSP00000325377:G393D	G	-	2	0	WDR33	128198395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.587000	0.82613	2.752000	0.94435	0.655000	0.94253	GGC	WDR33	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.418	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	C	NM_018383		128481925	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128481925	C	T	128481925	3	4	185	1	0	0	0	0	1	0	0	0	17318	739	26	4	2880	4	WDR33	2	128481925	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3306896	128481925	114717448	232	34507										
SAP130	79595	genome.wustl.edu	37	chr2	128767909	128767909	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagactgagctctggtggctGagacagttgctaccacagca	13	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:128767909G>C	ENST00000259235.3	-	7	1010	c.881C>G	c.(880-882)tCa>tGa	p.S294*	SAP130_ENST00000259234.6_Nonsense_Mutation_p.S268*|SAP130_ENST00000357702.5_Nonsense_Mutation_p.S294*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	294					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCTGGTGGCTGAGACAGTTGC	0.468																																																	0													119	105	110					2																	128767909		2203	4300	6503	SO:0001587	stop_gained	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.881C>G	2.37:g.128767909G>C	ENSP00000259235:p.Ser294*		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	NULL	p.S294*	ENST00000259235.3	37	c.881	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.785667	0.96937	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	5.56	0.83823	.	0.063677	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-22.5542	19.5311	0.95230	0.0:0.0:1.0:0.0	.	.	.	.	X	294;294;268	.	ENSP00000259234:S268X	S	-	2	0	SAP130	128484379	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	9.260000	0.95568	2.635000	0.89317	0.467000	0.42956	TCA	SAP130	-	NULL		0.468	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128767909	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	128767909	G	C	128767909	4	2	185	1	0	0	0	0	0	1	0	0	13861	1294	45	1	2430	1	SAP130	2	128767909	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	285984	128767909	114431464	233	34508										
FAM123C	205147	genome.wustl.edu	37	chr2	131520159	131520159	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acattcggagaaacaagactGaggacttggcctcgctggcg	13	10	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:131520159G>A	ENST00000423981.1	+	2	624	c.514G>A	c.(514-516)Gag>Aag	p.E172K	AMER3_ENST00000321420.4_Missense_Mutation_p.E172K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	172					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AAACAAGACTGAGGACTTGGC	0.627																																																	0													53	57	56					2																	131520159		2198	4296	6494	SO:0001583	missense	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.514G>A	2.37:g.131520159G>A	ENSP00000392700:p.Glu172Lys		B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E172K	ENST00000423981.1	37	c.514	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815808	0.50527	.	.	ENSG00000178171	ENST00000321420;ENST00000458606;ENST00000423981	T;T;T	0.11930	2.73;2.73;2.73	5.21	5.21	0.72293	.	0.386214	0.27080	N	0.021034	T	0.15955	0.0384	L	0.34521	1.04	0.30094	N	0.808047	P	0.47484	0.896	P	0.47891	0.56	T	0.01945	-1.1242	10	0.59425	D	0.04	.	12.3821	0.55313	0.0:0.1697:0.8303:0.0	.	172	Q8N944	F123C_HUMAN	K	172	ENSP00000314914:E172K;ENSP00000389242:E172K;ENSP00000392700:E172K	ENSP00000314914:E172K	E	+	1	0	FAM123C	131236629	1.000000	0.71417	0.286000	0.24833	0.320000	0.28249	5.769000	0.68865	2.597000	0.87782	0.561000	0.74099	GAG	FAM123C	-	pfam_Uncharacterised_FAM123		0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	G	NM_152698		131520159	1	no_errors	ENST00000321420	ensembl	human	known	70_37	missense	SNP	0.783	A	A	131520159	G	A	131520159	3	1	185	1	0	0	0	0	1	0	0	0	5439	1291	45	1	516	1	FAM123C	2	131520159	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2752250	131520159	111679214	234	34509										
ZRANB3	84083	genome.wustl.edu	37	chr2	136071135	136071135	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggcacctgaatttggagttCtcattattttttcccactct	6	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:136071135C>T	ENST00000264159.6	-	8	1006	c.890G>A	c.(889-891)aGa>aAa	p.R297K	ZRANB3_ENST00000401392.1_Missense_Mutation_p.R297K|ZRANB3_ENST00000536680.1_Missense_Mutation_p.R297K	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	297	DNA annealing helicase activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ATTTGGAGTTCTCATTATTTT	0.378																																																	0													150	141	143					2																	136071135		1854	4089	5943	SO:0001583	missense	84083			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.890G>A	2.37:g.136071135C>T	ENSP00000264159:p.Arg297Lys		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R297K	ENST00000264159.6	37	c.890	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271163	0.23221	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.90788	-2.73;-2.73;-2.7	5.56	2.7	0.31948	.	0.314743	0.38272	N	0.001754	D	0.84902	0.5575	L	0.46947	1.48	0.37855	D	0.929513	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.16289	0.005;0.015;0.008	T	0.75622	-0.3254	10	0.18710	T	0.47	-15.0512	9.9862	0.41843	0.0:0.7717:0.0:0.2283	.	237;297;297	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	K	297;297;297;237	ENSP00000383979:R297K;ENSP00000264159:R297K;ENSP00000441320:R297K	ENSP00000264159:R297K	R	-	2	0	ZRANB3	135787605	0.991000	0.36638	0.995000	0.50966	0.570000	0.35934	1.618000	0.36954	0.271000	0.22005	0.467000	0.42956	AGA	ZRANB3	-	NULL		0.378	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	C	NM_032143		136071135	-1	no_errors	ENST00000264159	ensembl	human	known	70_37	missense	SNP	0.933	T	T	136071135	C	T	136071135	3	4	185	1	0	0	0	0	1	0	0	0	18254	913	32	1	2405	1	ZRANB3	2	136071135	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4550976	136071135	107128238	235	34510										
THSD7B	80731	genome.wustl.edu	37	chr2	137748495	137748495	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagatgaggtggttttgtatCacaaattagcaggtaaatca	10	5	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:137748495C>G	ENST00000413152.2	+	1	34	c.34C>G	c.(34-36)Cac>Gac	p.H12D	THSD7B_ENST00000409968.1_Intron|THSD7B_ENST00000272643.3_Intron	NM_001080427.1	NP_001073896.1	Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	242						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTTTGTATCACAAATTAGC	0.388																																																	0													103	98	100					2																	137748495		1885	4119	6004	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000413152.2:c.34C>G	2.37:g.137748495C>G	ENSP00000413841:p.His12Asp			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.H12D	ENST00000413152.2	37	c.34		2	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630815	0.14322	.	.	ENSG00000144229	ENST00000413152	T	0.21191	2.02	4.7	0.512	0.16994	.	.	.	.	.	T	0.08935	0.0221	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.15052	0.012	T	0.31392	-0.9945	9	0.36615	T	0.2	.	4.1075	0.10043	0.3365:0.4783:0.0:0.1852	.	12	C9JKN6	.	D	12	ENSP00000413841:H12D	ENSP00000413841:H12D	H	+	1	0	THSD7B	137464965	0.004000	0.15560	0.000000	0.03702	0.171000	0.22731	0.308000	0.19314	0.151000	0.19162	0.655000	0.94253	CAC	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.388	THSD7B-202	KNOWN	basic	protein_coding	THSD7B	HGNC	protein_coding		C	XM_046570.9		137748495	1	no_errors	ENST00000413152	ensembl	human	known	70_37	missense	SNP	0.000	G	G	137748495	C	G	137748495	3	3	185	1	0	0	0	0	1	0	0	0	15910	826	29	1	36	1	THSD7B	2	137748495	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1677360	137748495	105450878	236	34511										
ORC4L	5000	genome.wustl.edu	37	chr2	148705775	148705775	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcttgacttcactcttttttCtaagagttccaaaatatcct	3	10	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:148705775C>G	ENST00000392857.5	-	9	714	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	ORC4_ENST00000264169.2_Missense_Mutation_p.E203Q|ORC4_ENST00000540442.1_Missense_Mutation_p.E129Q|ORC4_ENST00000535373.1_Missense_Mutation_p.E203Q|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000536575.1_Missense_Mutation_p.E119Q|ORC4_ENST00000392858.1_Missense_Mutation_p.E203Q	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	203					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						ACTCTTTTTTCTAAGAGTTCC	0.284																																																	0													58	67	64					2																	148705775		2200	4295	6495	SO:0001583	missense	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.607G>C	2.37:g.148705775C>G	ENSP00000376597:p.Glu203Gln		B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4	p.E203Q	ENST00000392857.5	37	c.607	CCDS2187.1	2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952218	0.92660	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857	T;T;T;D;D;T	0.93133	0.46;0.46;0.46;-3.17;-3.17;0.46	5.69	5.69	0.88448	ATPase, AAA-type, core (1);	0.000000	0.85682	D	0.000000	D	0.97558	0.9200	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.97625	1.0138	10	0.56958	D	0.05	-20.5506	19.8228	0.96604	0.0:1.0:0.0:0.0	.	203;203;203	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	Q	203;203;203;129;119;203	ENSP00000264169:E203Q;ENSP00000441953:E203Q;ENSP00000376598:E203Q;ENSP00000438326:E129Q;ENSP00000441502:E119Q;ENSP00000376597:E203Q	ENSP00000264169:E203Q	E	-	1	0	ORC4	148422245	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.319000	0.79040	2.668000	0.90789	0.650000	0.86243	GAA	ORC4	-	pfam_ATPase_AAA_core,pirsf_ORC4		0.284	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC4	HGNC	protein_coding	OTTHUMT00000254797.3	C	NM_181742		148705775	-1	no_errors	ENST00000264169	ensembl	human	known	70_37	missense	SNP	1.000	G	G	148705775	C	G	148705775	3	3	185	1	0	0	0	0	1	0	0	0	11288	922	32	1	727	1	ORC4L	2	148705775	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10957280	148705775	94493598	237	34512										
KIF5C	3800	genome.wustl.edu	37	chr2	149829850	149829850	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctcggctatgttttgcagGagaagctgtgcctgaggatg	15	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:149829850G>T	ENST00000435030.1	+	12	1486	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Splice_Site_p.G278V|KIF5C_ENST00000397413.1_Splice_Site_p.G141V			O60282	KIF5C_HUMAN	kinesin family member 5C	373					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGTTTTGCAGGAGAAGCTGTG	0.448																																																	0													87	91	90					2																	149829850		1956	4170	6126	SO:0001630	splice_region_variant	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1118-1G>T	2.37:g.149829850G>T			O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G373V	ENST00000435030.1	37	c.1118		2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823061	0.90873	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.83506	-1.73;-1.73;-1.73	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90626	0.4563	8	.	.	.	.	19.7723	0.96370	0.0:0.0:1.0:0.0	.	373	O60282	KIF5C_HUMAN	V	373;278;276;141	ENSP00000393379:G373V;ENSP00000410115:G278V;ENSP00000380560:G141V	.	G	+	2	0	KIF5C	149538096	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.813000	0.99286	2.778000	0.95560	0.655000	0.94253	GGA	KIF5C	-	NULL		0.448	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	G	NM_004522	Missense_Mutation	149829850	1	no_errors	ENST00000435030	ensembl	human	known	70_37	missense	SNP	1.000	T	T	149829850	G	T	149829850	5	4	185	1	0	0	0	0	0	0	1	0	8327	1188	41	3	1086	3	KIF5C	2	149829850	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1124075	149829850	93369523	238	34513										
LYPD6B	130576	genome.wustl.edu	37	chr2	150071114	150071114	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgtagaattacccaccaatCacactaatgcagtgtttgcc	6	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:150071114C>G	ENST00000409029.1	+	7	644	c.442C>G	c.(442-444)Cac>Gac	p.H148D	LYPD6B_ENST00000409642.3_Missense_Mutation_p.H172D|LYPD6B_ENST00000280115.7_Missense_Mutation_p.H172D|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.H148D			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	148	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						ACCCACCAATCACACTAATGC	0.468																																																	0													156	155	155					2																	150071114		2037	4179	6216	SO:0001583	missense	130576				CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"cancer/testis antigen 116"					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.442C>G	2.37:g.150071114C>G	ENSP00000386650:p.His148Asp		D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	NULL	p.H172D	ENST00000409029.1	37	c.514		2	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407988	0.42715	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.68	4.77	0.60923	Ly-6 antigen / uPA receptor -like (1);	0.060363	0.64402	D	0.000004	T	0.13372	0.0324	L	0.38531	1.155	0.45690	D	0.998601	B;P	0.38078	0.418;0.617	B;B	0.33960	0.173;0.173	T	0.06215	-1.0839	9	.	.	.	-34.811	13.8239	0.63340	0.1532:0.8468:0.0:0.0	.	148;172	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	D	172;148;148;172	ENSP00000387077:H172D;ENSP00000386479:H148D;ENSP00000386650:H148D;ENSP00000280115:H172D	.	H	+	1	0	LYPD6B	149779360	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	2.611000	0.46334	2.691000	0.91804	0.655000	0.94253	CAC	LYPD6B	-	NULL		0.468	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	LYPD6B	HGNC	protein_coding	OTTHUMT00000332299.2	C	NM_177964		150071114	1	no_errors	ENST00000280115	ensembl	human	known	70_37	missense	SNP	1.000	G	G	150071114	C	G	150071114	3	3	185	1	0	0	0	0	1	0	0	0	9138	826	29	1	536	1	LYPD6B	2	150071114	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	241264	150071114	93128259	239	34514										
RBM43	375287	genome.wustl.edu	37	chr2	152107565	152107565	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttaattgttcacatgcccttTtgatcattcttttctctcta	3	10	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:152107565T>G	ENST00000331426.5	-	4	1080	c.929A>C	c.(928-930)aAa>aCa	p.K310T		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	310							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ACATGCCCTTTTGATCATTCT	0.353																																																	0													142	139	140					2																	152107565		2203	4300	6503	SO:0001583	missense	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.929A>C	2.37:g.152107565T>G	ENSP00000331211:p.Lys310Thr		B2RMT5	Missense_Mutation	SNP	pfscan_RRM_dom	p.K310T	ENST00000331426.5	37	c.929	CCDS2191.1	2	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960898	0.34565	.	.	ENSG00000184898	ENST00000331426	T	0.51817	0.69	5.48	-6.12	0.02124	.	1.652540	0.02816	N	0.124938	T	0.28400	0.0702	N	0.24115	0.695	0.09310	N	0.999999	B	0.15930	0.015	B	0.12837	0.008	T	0.15867	-1.0422	10	0.44086	T	0.13	0.4605	2.9566	0.05878	0.2085:0.4092:0.1062:0.2761	.	310	Q6ZSC3	RBM43_HUMAN	T	310	ENSP00000331211:K310T	ENSP00000331211:K310T	K	-	2	0	RBM43	151815811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.925000	0.03992	-0.635000	0.05531	0.533000	0.62120	AAA	RBM43	-	NULL		0.353	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM43	HGNC	protein_coding	OTTHUMT00000254816.2	T	NM_198557		152107565	-1	no_errors	ENST00000331426	ensembl	human	known	70_37	missense	SNP	0.000	G	G	152107565	T	G	152107565	3	3	185	1	0	0	0	0	1	0	0	0	13167	1841	64	5	148	5	RBM43	2	152107565	Missense_Mutation	SNP	T	TCGA-Q1-A73O-01A-11D-A32I-09	2036451	152107565	91091808	240	34515										
BAZ2B	29994	genome.wustl.edu	37	chr2	160287376	160287376	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaataaagtgtaggtaccaGagtgtgggcttgaagtaagt	13	3	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:160287376G>C	ENST00000392783.2	-	10	2687	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	BAZ2B_ENST00000355831.2_Missense_Mutation_p.S731C|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S729C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	731					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTAGGTACCAGAGTGTGGGCT	0.408																																																	0													90	87	88					2																	160287376		1867	4109	5976	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2192C>G	2.37:g.160287376G>C	ENSP00000376534:p.Ser731Cys		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S731C	ENST00000392783.2	37	c.2192	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828791	0.50845	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;D;T	0.96491	1.87;-4.03;1.87	5.64	4.75	0.60458	DNA-binding, integrase-type (1);	0.210766	0.23032	U	0.052726	D	0.89904	0.6850	N	0.08118	0	0.80722	D	1	B;B;B	0.14805	0.01;0.011;0.007	B;B;B	0.13407	0.009;0.007;0.002	D	0.85559	0.1226	10	0.28530	T	0.3	-7.6461	12.9103	0.58177	0.0:0.3978:0.6022:0.0	.	535;729;731	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	C	729;731;731	ENSP00000376533:S729C;ENSP00000376534:S731C;ENSP00000348087:S731C	ENSP00000348087:S731C	S	-	2	0	BAZ2B	159995622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.316000	0.51960	2.659000	0.90383	0.643000	0.83706	TCT	BAZ2B	-	superfamily_DNA-bd_integrase-typ		0.408	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	G			160287376	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	C	C	160287376	G	C	160287376	3	2	185	1	0	0	0	0	1	0	0	0	1333	942	33	1	4426	1	BAZ2B	2	160287376	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	8179811	160287376	82911997	241	34516										
GRB14	2888	genome.wustl.edu	37	chr2	165353988	165353988	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cattgctaccagggaattctCtgatatacttctctggaaaa	7	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:165353988C>T	ENST00000263915.3	-	10	1655	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	GRB14_ENST00000497306.1_5'Flank|GRB14_ENST00000543549.1_Missense_Mutation_p.E286K	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	373					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AGGGAATTCTCTGATATACTT	0.358																																																	0													72	73	73					2																	165353988		2203	4300	6503	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1117G>A	2.37:g.165353988C>T	ENSP00000263915:p.Glu373Lys		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.E373K	ENST00000263915.3	37	c.1117	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.335129	0.95758	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.32023	1.86;1.9;1.47	5.71	5.71	0.89125	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.57536	1.79	0.80722	D	1	D;P	0.56035	0.974;0.771	P;B	0.55222	0.771;0.444	T	0.37731	-0.9693	10	0.52906	T	0.07	-17.1247	19.8625	0.96789	0.0:1.0:0.0:0.0	.	286;373	B7Z7F9;Q14449	.;GRB14_HUMAN	K	373;286;328	ENSP00000263915:E373K;ENSP00000443699:E286K;ENSP00000416786:E328K	ENSP00000263915:E373K	E	-	1	0	GRB14	165062234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.797000	0.85911	2.689000	0.91719	0.655000	0.94253	GAG	GRB14	-	pfam_BPS-dom		0.358	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	C			165353988	-1	no_errors	ENST00000263915	ensembl	human	known	70_37	missense	SNP	1.000	T	T	165353988	C	T	165353988	3	4	185	1	0	0	0	0	1	0	0	0	6777	922	32	1	525	1	GRB14	2	165353988	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5066612	165353988	77845385	242	34517										
SLC38A11	151258	genome.wustl.edu	37	chr2	165755097	165755097	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtatttgtaatagccatgacGaatccaaaaaccatcaccac	5	11	1	1	rs146184099		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:165755097G>A	ENST00000409149.3	-	11	1362	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	SLC38A11_ENST00000409662.1_Silent_p.F357F|SLC38A11_ENST00000409058.1_Silent_p.F388F|RNA5SP111_ENST00000411386.1_RNA|SLC38A11_ENST00000303735.4_Silent_p.F335F	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	357					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TAGCCATGACGAATCCAAAAA	0.433																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	126	111	116		1071,1005	1.6	1	2	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC38A11	NM_001199148.1,NM_173512.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	357/407,335/385	165755097	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151258				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.1071C>T	2.37:g.165755097G>A			B4DF99|Q8N887	Silent	SNP	pfam_AA_transpt_TM	p.F357	ENST00000409149.3	37	c.1071	CCDS56142.1	2																																																																																			SLC38A11	-	pfam_AA_transpt_TM		0.433	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A11	HGNC	protein_coding	OTTHUMT00000333390.1	G	NM_173512		165755097	-1	no_errors	ENST00000409149	ensembl	human	known	70_37	silent	SNP	0.990	A	A	165755097	G	A	165755097	2	1	185	1	0	0	0	0	0	0	0	1	14633	1049	37	1		1	SLC38A11	2	165755097	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	401109	165755097	77444276	243	34518										
SCN2A	6326	genome.wustl.edu	37	chr2	166152517	166152517	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acttggaagcaggaaaatctCttccatttatttatggagac	8	7	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:166152517C>G	ENST00000375437.2	+	2	474	c.184C>G	c.(184-186)Ctt>Gtt	p.L62V	SCN2A_ENST00000283256.6_Missense_Mutation_p.L62V|SCN2A_ENST00000357398.3_Missense_Mutation_p.L62V|SCN2A_ENST00000375427.2_Missense_Mutation_p.L62V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	62					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAAAATCTCTTCCATTTAT	0.443																																																	0													100	94	96					2																	166152517		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.184C>G	2.37:g.166152517C>G	ENSP00000364586:p.Leu62Val		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L62V	ENST00000375437.2	37	c.184	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975320	0.74360	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98090	-4.42;-4.71;-4.71;-4.71;-4.71	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000027	D	0.98735	0.9575	M	0.80508	2.5	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.992	D	0.99651	1.0991	10	0.62326	D	0.03	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	62;62	Q99250-2;Q99250	.;SCN2A_HUMAN	V	62	ENSP00000406454:L62V;ENSP00000364586:L62V;ENSP00000349973:L62V;ENSP00000283256:L62V;ENSP00000364576:L62V	ENSP00000283256:L62V	L	+	1	0	SCN2A	165860763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.037000	0.70956	2.559000	0.86315	0.655000	0.94253	CTT	SCN2A	-	NULL		0.443	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	C	NM_021007		166152517	1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	G	G	166152517	C	G	166152517	3	3	185	1	0	0	0	0	1	0	0	0	13946	913	32	1	186	1	SCN2A	2	166152517	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	397420	166152517	77046856	244	34519										
SCN2A	6326	genome.wustl.edu	37	chr2	166188012	166188012	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcattgtcttaaatacactCttcatggctatggagcacta	7	9	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:166188012C>G	ENST00000375437.2	+	14	2612	c.2322C>G	c.(2320-2322)ctC>ctG	p.L774L	SCN2A_ENST00000283256.6_Silent_p.L774L|SCN2A_ENST00000357398.3_Silent_p.L774L|SCN2A_ENST00000375427.2_Silent_p.L774L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	774					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L774L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAATACACTCTTCATGGCTA	0.453																																																	2	Substitution - coding silent(2)	lung(2)											160	135	143					2																	166188012		2203	4300	6503	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2322C>G	2.37:g.166188012C>G			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L774	ENST00000375437.2	37	c.2322	CCDS33314.1	2																																																																																			SCN2A	-	NULL		0.453	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	C	NM_021007		166188012	1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	0.966	G	G	166188012	C	G	166188012	2	3	185	1	0	0	0	0	0	0	0	1	13946	900	32	1		1	SCN2A	2	166188012	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	35495	166188012	77011361	245	34520										
SCN9A	6335	genome.wustl.edu	37	chr2	167108373	167108373	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tatcaactgtgctgcactctGaggagcttgaccggtttaat	10	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:167108373G>C	ENST00000409435.1	-	17	3373	c.3374C>G	c.(3373-3375)tCa>tGa	p.S1125*	SCN9A_ENST00000303354.6_Nonsense_Mutation_p.S1126*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.S1126*|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.S1114*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1125					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGCACTCTGAGGAGCTTGA	0.428																																																	0													84	78	80					2																	167108373		1889	4103	5992	SO:0001587	stop_gained	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3374C>G	2.37:g.167108373G>C	ENSP00000386330:p.Ser1125*		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.S1126*	ENST00000409435.1	37	c.3377	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	45	11.877176	0.99613	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.6917	0.96005	0.0:0.0:1.0:0.0	.	.	.	.	X	1114;1126;1126;1125	.	ENSP00000304748:S1126X	S	-	2	0	SCN9A	166816619	1.000000	0.71417	0.986000	0.45419	0.752000	0.42762	9.173000	0.94815	2.751000	0.94390	0.650000	0.86243	TCA	SCN9A	-	pfam_Na_trans_assoc		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	G	NM_002977		167108373	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	167108373	G	C	167108373	4	2	185	1	0	0	0	0	0	1	0	0	13955	1294	45	1	2632	1	SCN9A	2	167108373	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	920361	167108373	76091000	246	34521										
XIRP2	129446	genome.wustl.edu	37	chr2	168096425	168096425	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccaggaaatggcaagaaatGaacaagaagggtccaaagta	12	6	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:168096425G>A	ENST00000409728.1	+	7	1107	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	XIRP2_ENST00000420519.1_Missense_Mutation_p.E340K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E307K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E307K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E85K|XIRP2_ENST00000409195.1_Missense_Mutation_p.E307K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E307K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E85K	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	132					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGCAAGAAATGAACAAGAAGG	0.418																																																	0													95	95	95					2																	168096425		1875	4112	5987	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1018G>A	2.37:g.168096425G>A	ENSP00000386619:p.Glu340Lys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.E307K	ENST00000409728.1	37	c.919	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770878	0.49680	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;4.21;-1.12;-1.12;4.21;4.22;-1.12	5.36	3.47	0.39725	.	0.727691	0.13083	N	0.415199	T	0.78323	0.4265	L	0.49126	1.545	0.34691	D	0.725706	B;P;P;B;B	0.46277	0.016;0.846;0.875;0.021;0.047	B;P;P;B;B	0.53035	0.009;0.561;0.716;0.016;0.018	T	0.79921	-0.1599	10	0.49607	T	0.09	-8.1369	6.3862	0.21561	0.2282:0.0:0.7718:0.0	.	132;307;340;132;85	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	K	307;340;307;307;340;307;85;85	ENSP00000386454:E307K;ENSP00000386619:E340K;ENSP00000386840:E307K;ENSP00000386724:E307K;ENSP00000415541:E340K;ENSP00000295237:E307K;ENSP00000387255:E85K;ENSP00000386981:E85K	ENSP00000295237:E307K	E	+	1	0	XIRP2	167804671	0.579000	0.26725	0.998000	0.56505	0.446000	0.32137	0.405000	0.21015	1.185000	0.42971	0.650000	0.86243	GAA	XIRP2	-	NULL		0.418	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168096425	1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.951	A	A	168096425	G	A	168096425	3	1	185	1	0	0	0	0	1	0	0	0	17461	1291	45	1	937	1	XIRP2	2	168096425	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	988052	168096425	75102948	247	34522										
NOSTRIN	115677	genome.wustl.edu	37	chr2	169699594	169699594	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcgggttattctaccagactGaaatgggaaaacacactaga	10	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:169699594G>A	ENST00000317647.7	+	8	826	c.597G>A	c.(595-597)ctG>ctA	p.L199L	NOSTRIN_ENST00000397209.2_Silent_p.L171L|NOSTRIN_ENST00000444448.2_Silent_p.L199L|NOSTRIN_ENST00000458381.2_Silent_p.L199L|NOSTRIN_ENST00000421711.2_Silent_p.L171L|NOSTRIN_ENST00000445023.2_Silent_p.L121L|NOSTRIN_ENST00000397206.2_Silent_p.L121L	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	199					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CTACCAGACTGAAATGGGAAA	0.363																																																	0													76	70	72					2																	169699594		1826	4081	5907	SO:0001819	synonymous_variant	115677			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"nitric oxide synthase trafficker"			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.597G>A	2.37:g.169699594G>A			A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.L199	ENST00000317647.7	37	c.597	CCDS42771.1	2																																																																																			NOSTRIN	-	NULL		0.363	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	G	NM_052946		169699594	1	no_errors	ENST00000444448	ensembl	human	known	70_37	silent	SNP	1.000	A	A	169699594	G	A	169699594	2	1	185	1	0	0	0	0	0	0	0	1	10570	1277	45	1		1	NOSTRIN	2	169699594	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1603169	169699594	73499779	248	34523										
ABCB11	8647	genome.wustl.edu	37	chr2	169826001	169826001	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcaaaaccaatgatggtatCtgcagctctgaccgtagaca	8	10	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:169826001C>T	ENST00000263817.6	-	16	1994	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	624	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGATGGTATCTGCAGCTCTG	0.433																																																	0													104	96	98					2																	169826001		1967	4168	6135	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1870G>A	2.37:g.169826001C>T	ENSP00000263817:p.Asp624Asn		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.D624N	ENST00000263817.6	37	c.1870	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247757	0.59103	.	.	ENSG00000073734	ENST00000263817	D	0.81821	-1.54	5.5	5.5	0.81552	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.82586	0.5069	M	0.71036	2.16	0.80722	D	1	B;B	0.26081	0.141;0.061	B;B	0.30401	0.112;0.115	T	0.80834	-0.1205	10	0.62326	D	0.03	.	19.3783	0.94521	0.0:1.0:0.0:0.0	.	66;624	B4DZQ8;O95342	.;ABCBB_HUMAN	N	624	ENSP00000263817:D624N	ENSP00000263817:D624N	D	-	1	0	ABCB11	169534247	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	4.882000	0.63121	2.573000	0.86826	0.585000	0.79938	GAT	ABCB11	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.433	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	C	NM_003742		169826001	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	missense	SNP	1.000	T	T	169826001	C	T	169826001	3	4	185	1	0	0	0	0	1	0	0	0	42	913	32	1	2147	1	ABCB11	2	169826001	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	126407	169826001	73373372	249	34524										
UBR3	130507	genome.wustl.edu	37	chr2	170917915	170917915	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagaatcaccagccttcttCagcaccacctttttggggaa	7	13	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:170917915C>T	ENST00000272793.5	+	35	5031	c.4981C>T	c.(4981-4983)Cag>Tag	p.Q1661*	UBR3_ENST00000418381.1_Nonsense_Mutation_p.Q1661*|UBR3_ENST00000392631.1_Nonsense_Mutation_p.Q482*			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1661					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CAGCCTTCTTCAGCACCACCT	0.403																																																	0													178	177	177					2																	170917915		2203	4300	6503	SO:0001587	stop_gained	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4981C>T	2.37:g.170917915C>T	ENSP00000272793:p.Gln1661*		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Nonsense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Q1661*	ENST00000272793.5	37	c.4981		2	.	.	.	.	.	.	.	.	.	.	C	37	6.529952	0.97641	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	.	.	.	5.92	5.92	0.95590	.	0.097598	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.9123	0.97029	0.0:1.0:0.0:0.0	.	.	.	.	X	1661;1690;1661;482;361	.	ENSP00000272793:Q1661X	Q	+	1	0	UBR3	170626161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.733000	0.74796	2.801000	0.96364	0.650000	0.86243	CAG	UBR3	-	NULL		0.403	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	C	NM_172070		170917915	1	no_errors	ENST00000272793	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	170917915	C	T	170917915	4	4	185	1	0	0	0	0	0	1	0	0	16934	827	29	1	5119	1	UBR3	2	170917915	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1091914	170917915	72281458	250	34525										
PDK1	5163	genome.wustl.edu	37	chr2	173451093	173451093	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgcaccaagacctcgtgttGagacctcccgcgcagtgcct	10	16	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:173451093G>C	ENST00000282077.3	+	9	1215	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	PDK1_ENST00000410055.1_Missense_Mutation_p.E345Q|PDK1_ENST00000544863.1_Missense_Mutation_p.E190Q|PDK1_ENST00000543905.1_Missense_Mutation_p.E269Q|PDK1_ENST00000392571.2_Missense_Mutation_p.E365Q			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	345	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			ACCTCGTGTTGAGACCTCCCG	0.433									Autosomal Dominant Polycystic Kidney Disease																																								0													113	95	101					2																	173451093		2203	4300	6503	SO:0001583	missense	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"pyruvate dehydrogenase kinase, isoenzyme 1"			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1033G>C	2.37:g.173451093G>C	ENSP00000282077:p.Glu345Gln		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.E345Q	ENST00000282077.3	37	c.1033	CCDS2250.1	2	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503014	0.64298	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.66995	0.79;-0.24;1.09;1.07;1.09	5.3	5.3	0.74995	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.046702	0.85682	D	0.000000	T	0.76335	0.3973	M	0.79475	2.455	0.80722	D	1	B;P	0.40553	0.258;0.721	B;P	0.48089	0.137;0.566	T	0.75062	-0.3450	10	0.33141	T	0.24	-8.748	18.9633	0.92685	0.0:0.0:1.0:0.0	.	345;365	Q15118;E9PD65	PDK1_HUMAN;.	Q	269;190;345;365;345	ENSP00000438567:E269Q;ENSP00000437502:E190Q;ENSP00000282077:E345Q;ENSP00000376352:E365Q;ENSP00000386985:E345Q	ENSP00000282077:E345Q	E	+	1	0	PDK1	173159339	1.000000	0.71417	0.814000	0.32528	0.618000	0.37518	9.775000	0.98995	2.485000	0.83878	0.557000	0.71058	GAG	PDK1	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core		0.433	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK1	HGNC	protein_coding	OTTHUMT00000255380.3	G	NM_002610		173451093	1	no_errors	ENST00000282077	ensembl	human	known	70_37	missense	SNP	1.000	C	C	173451093	G	C	173451093	3	2	185	1	0	0	0	0	1	0	0	0	11699	1291	45	1	1067	1	PDK1	2	173451093	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2533178	173451093	69748280	251	34526										
HOXD12	3238	genome.wustl.edu	37	chr2	176965365	176965365	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacgaattcatcaacaggcaGaaacgcaaggaattgtccaa	8	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:176965365G>A	ENST00000406506.2	+	2	762	c.690G>A	c.(688-690)caG>caA	p.Q230Q	HOXD12_ENST00000404162.2_Missense_Mutation_p.E240K			P35452	HXD12_HUMAN	homeobox D12	230					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TCAACAGGCAGAAACGCAAGG	0.547																																																	0													40	43	42					2																	176965365		1992	4185	6177	SO:0001819	synonymous_variant	3238				CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.690G>A	2.37:g.176965365G>A			B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	NULL	p.E240K	ENST00000406506.2	37	c.718	CCDS46456.1	2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939002	0.52972	.	.	ENSG00000170178	ENST00000404162	.	.	.	5.29	4.42	0.53409	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.30339	N	0.785923	B	0.18863	0.031	B	0.19946	0.027	T	0.44757	-0.9307	7	0.87932	D	0	.	10.171	0.42911	0.1512:0.0:0.8488:0.0	.	240	B5MCD3	.	K	240	.	ENSP00000385132:E240K	E	+	1	0	HOXD12	176673611	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.086000	0.57664	1.249000	0.43950	-0.140000	0.14226	GAA	HOXD12	-	NULL		0.547	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD12	HGNC	protein_coding	OTTHUMT00000359253.2	G	NM_021193		176965365	1	no_errors	ENST00000404162	ensembl	human	novel	70_37	missense	SNP	1.000	A	A	176965365	G	A	176965365	2	1	185	1	0	0	0	0	0	0	0	1	7341	933	33	1		1	HOXD12	2	176965365	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3514272	176965365	66234008	252	34527										
TTN	7273	genome.wustl.edu	37	chr2	179417953	179417953	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtgagtaatgaggatgaatCagtgttttcaatgctgtatc	12	4	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:179417953C>T	ENST00000591111.1	-	285	84975	c.84751G>A	c.(84751-84753)Gat>Aat	p.D28251N	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D20952N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20827N|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21019N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27324N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D29892N|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28251	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGATGAATCAGTGTTTTCA	0.398																																																	0													215	208	210					2																	179417953		1945	4140	6085	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84751G>A	2.37:g.179417953C>T	ENSP00000465570:p.Asp28251Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D27324N	ENST00000591111.1	37	c.81970		2	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778558	0.70107	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50154	0.1599	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.48952	0.519;0.519;0.519;0.596	T	0.51466	-0.8702	9	0.87932	D	0	.	19.7818	0.96418	0.0:1.0:0.0:0.0	.	20827;20952;21019;28251	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	27324;20827;21019;20952;20824	ENSP00000343764:D27324N;ENSP00000434586:D20827N;ENSP00000340554:D21019N;ENSP00000352154:D20952N	ENSP00000340554:D21019N	D	-	1	0	TTN	179126199	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	4.912000	0.63335	2.736000	0.93811	0.655000	0.94253	GAT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179417953	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179417953	C	T	179417953	3	4	185	1	0	0	0	0	1	0	0	0	16766	826	29	1	18417	1	TTN	2	179417953	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2452588	179417953	63781420	253	34528										
TTN	7273	genome.wustl.edu	37	chr2	179592389	179592389	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagtatactgtccagtcttaGaagcatccactgagtagaga	9	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:179592389G>A	ENST00000591111.1	-	66	19189	c.18965C>T	c.(18964-18966)tCt>tTt	p.S6322F	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5395F|TTN_ENST00000589042.1_Missense_Mutation_p.S6639F|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13098	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGTCTTAGAAGCATCCAC	0.408																																																	0													200	204	203					2																	179592389		2030	4198	6228	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18965C>T	2.37:g.179592389G>A	ENSP00000465570:p.Ser6322Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S5395F	ENST00000591111.1	37	c.16184		2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583936	0.28268	.	.	ENSG00000155657	ENST00000342992	T	0.48522	0.81	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67449	0.2894	M	0.91249	3.19	0.80722	D	1	P	0.50369	0.934	P	0.51016	0.656	T	0.75025	-0.3463	9	0.87932	D	0	.	14.6024	0.68450	0.069:0.0:0.931:0.0	.	6322	Q8WZ42	TITIN_HUMAN	F	5395	ENSP00000343764:S5395F	ENSP00000343764:S5395F	S	-	2	0	TTN	179300634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.709000	0.74665	2.840000	0.97914	0.655000	0.94253	TCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179592389	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	A	A	179592389	G	A	179592389	3	1	185	1	0	0	0	0	1	0	0	0	16766	942	33	1	84793	1	TTN	2	179592389	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	174436	179592389	63606984	254	34529										
TTN	7273	genome.wustl.edu	37	chr2	179612777	179612777	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctctggttctagagtgcattCttcttccatttcaccaaccc	5	14	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:179612777C>G	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E4784Q|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGTGCATTCTTCTTCCATT	0.443																																																	0													66	61	63					2																	179612777		2203	4300	6503	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5073G>C	2.37:g.179612777C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E4784Q	ENST00000591111.1	37	c.14350		2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867603	0.72065	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59906	0.23	6.05	4.26	0.50523	.	.	.	.	.	T	0.49081	0.1536	L	0.40543	1.245	0.80722	D	1	P	0.49783	0.928	B	0.43103	0.408	T	0.46541	-0.9184	9	0.46703	T	0.11	.	10.9529	0.47341	0.0:0.8569:0.0:0.1431	.	4784	Q8WZ42-6	.	Q	4784;98	ENSP00000354117:E4784Q	ENSP00000304714:E98Q	E	-	1	0	TTN	179321022	0.069000	0.21087	0.069000	0.20011	0.209000	0.24338	0.862000	0.27899	0.897000	0.36392	0.650000	0.86243	GAA	TTN	-	NULL		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179612777	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.933	G	G	179612777	C	G	179612777	1	3	185	0	1	0	0	0	0	0	0	0	16766	922	32	1		1	TTN	2	179612777	Intron	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	20388	179612777	63586596	255	34530										
TTN	7273	genome.wustl.edu	37	chr2	179641473	179641473	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttaaggaagtgagttttttCttgaaaaatggtttctgttg	10	3	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:179641473C>T	ENST00000591111.1	-	28	5342	c.5118G>A	c.(5116-5118)aaG>aaA	p.K1706K	TTN_ENST00000359218.5_Silent_p.K1660K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K1660K|TTN_ENST00000342175.6_Silent_p.K1660K|TTN_ENST00000342992.6_Silent_p.K1706K|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.K1706K|TTN_ENST00000589042.1_Silent_p.K1706K|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12535	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTTTTTTCTTGAAAAATG	0.488																																																	0													89	81	84					2																	179641473		2203	4300	6503	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5118G>A	2.37:g.179641473C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K1706	ENST00000591111.1	37	c.5118		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641473	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179641473	C	T	179641473	2	4	185	1	0	0	0	0	0	0	0	1	16766	912	32	1		1	TTN	2	179641473	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	28696	179641473	63557900	256	34531										
PDE1A	5136	genome.wustl.edu	37	chr2	183070752	183070752	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcactcacgtggtgattctCaaggacagagcgatcattat	10	9	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:183070752C>G	ENST00000410103.1	-	9	948	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	PDE1A_ENST00000346717.4_Missense_Mutation_p.E255Q|PDE1A_ENST00000351439.5_Missense_Mutation_p.E273Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.E289Q|PDE1A_ENST00000435564.1_Missense_Mutation_p.E289Q|PDE1A_ENST00000536095.1_Missense_Mutation_p.E185Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.E289Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.E273Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.E289Q	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	289	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGGTGATTCTCAAGGACAGAG	0.358																																																	0													86	80	82					2																	183070752		2203	4300	6503	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.865G>C	2.37:g.183070752C>G	ENSP00000387037:p.Glu289Gln		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E289Q	ENST00000410103.1	37	c.865	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.077606	0.94000	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	6.02	6.02	0.97574	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	H	0.97732	4.065	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.994;0.999	D	0.97642	1.0149	10	0.87932	D	0	.	19.5352	0.95251	0.0:1.0:0.0:0.0	.	185;255;289;273;289	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	Q	289;255;185;273;289;273;289;289;289	ENSP00000410309:E289Q;ENSP00000329112:E255Q;ENSP00000439938:E185Q;ENSP00000386767:E273Q;ENSP00000331574:E289Q;ENSP00000309269:E273Q;ENSP00000387037:E289Q;ENSP00000350858:E289Q;ENSP00000408874:E289Q	ENSP00000331574:E289Q	E	-	1	0	PDE1A	182778997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	GAG	PDE1A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.358	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	C			183070752	-1	no_errors	ENST00000456212	ensembl	human	known	70_37	missense	SNP	1.000	G	G	183070752	C	G	183070752	3	3	185	1	0	0	0	0	1	0	0	0	11657	835	29	1	848	1	PDE1A	2	183070752	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3429279	183070752	60128621	257	34532										
ZNF804A	91752	genome.wustl.edu	37	chr2	185803649	185803649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgccaatcattccagcttccGttcttcatcctagccatctg	5	15	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:185803649G>A	ENST00000302277.6	+	4	4120	c.3526G>A	c.(3526-3528)Gtt>Att	p.V1176I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1176							metal ion binding (GO:0046872)	p.V1176I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCCAGCTTCCGTTCTTCATCC	0.507																																																	1	Substitution - Missense(1)	lung(1)											259	224	236					2																	185803649		2203	4300	6503	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3526G>A	2.37:g.185803649G>A	ENSP00000303252:p.Val1176Ile		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.V1176I	ENST00000302277.6	37	c.3526	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199722	0.38905	.	.	ENSG00000170396	ENST00000302277	T	0.06528	3.29	5.03	5.03	0.67393	.	0.000000	0.43919	D	0.000514	T	0.17109	0.0411	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	P	0.58130	0.833	T	0.02075	-1.1218	10	0.51188	T	0.08	-14.0148	14.6279	0.68635	0.0:0.1461:0.8539:0.0	.	1176	Q7Z570	Z804A_HUMAN	I	1176	ENSP00000303252:V1176I	ENSP00000303252:V1176I	V	+	1	0	ZNF804A	185511894	0.991000	0.36638	0.659000	0.29680	0.674000	0.39518	3.832000	0.55783	2.322000	0.78497	0.313000	0.20887	GTT	ZNF804A	-	NULL		0.507	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	G	NM_194250		185803649	1	no_errors	ENST00000302277	ensembl	human	known	70_37	missense	SNP	0.105	A	A	185803649	G	A	185803649	3	1	185	1	0	0	0	0	1	0	0	0	18200	1145	40	2	3540	2	ZNF804A	2	185803649	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2732897	185803649	57395724	258	34533										
FSIP2	401024	genome.wustl.edu	37	chr2	186655010	186655010	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttgaatgcaaaagaaatatCaaaccacctacaaagcctgg	6	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:186655010C>T	ENST00000424728.1	+	16	3147	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Silent_p.I1138I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1049										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAGAAATATCAAACCACCTA	0.328																																																	0																																										SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.3147C>T	2.37:g.186655010C>T			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.I1138	ENST00000424728.1	37	c.3414		2																																																																																			FSIP2	-	NULL		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	C	NM_173651		186655010	1	no_errors	ENST00000343098	ensembl	human	known	70_37	silent	SNP	0.000	T	T	186655010	C	T	186655010	2	4	185	1	0	0	0	0	0	0	0	1	6093	816	29	1		1	FSIP2	2	186655010	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	851361	186655010	56544363	259	34534										
FSIP2	401024	genome.wustl.edu	37	chr2	186670251	186670251	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggagactggtcttccaccttCttttcatttctaaatccaga	6	11	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:186670251C>T	ENST00000424728.1	+	17	16218	c.16218C>T	c.(16216-16218)ttC>ttT	p.F5406F	FSIP2_ENST00000343098.5_Silent_p.F5495F			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5406										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTCCACCTTCTTTTCATTTC	0.388																																																	0													99	91	93					2																	186670251		1837	4077	5914	SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16218C>T	2.37:g.186670251C>T			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.F5495	ENST00000424728.1	37	c.16485		2																																																																																			FSIP2	-	NULL		0.388	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	C	NM_173651		186670251	1	no_errors	ENST00000343098	ensembl	human	known	70_37	silent	SNP	0.994	T	T	186670251	C	T	186670251	2	4	185	1	0	0	0	0	0	0	0	1	6093	912	32	1		1	FSIP2	2	186670251	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	15241	186670251	56529122	260	34535										
ITGAV	3685	genome.wustl.edu	37	chr2	187465067	187465067	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcctcaatacacaaatgctCctaggcaccctccttctgat	4	15	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:187465067C>T	ENST00000261023.3	+	2	459				ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Silent_p.L2L	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V						angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CACAAATGCTCCTAGGCACCC	0.463																																					Melanoma(58;108 1995 6081)												0													194	164	173					2																	187465067		692	1591	2283	SO:0001627	intron_variant	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.186-1681C>T	2.37:g.187465067C>T			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L2	ENST00000261023.3	37	c.6	CCDS2292.1	2																																																																																			ITGAV	-	NULL		0.463	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	C	NM_002210		187465067	1	no_errors	ENST00000433736	ensembl	human	known	70_37	silent	SNP	0.002	T	T	187465067	C	T	187465067	1	4	185	0	1	0	0	0	0	0	0	0	7908	842	30	1		1	ITGAV	2	187465067	Intron	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	794816	187465067	55734306	261	34536										
DNAH7	56171	genome.wustl.edu	37	chr2	196642523	196642523	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttttttgaagggcatacttaCatcaccagaaggaggaacaa	9	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:196642523C>G	ENST00000312428.6	-	59	11165		c.e59+1		DNAH7_ENST00000409063.1_Splice_Site	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGCATACTTACATCACCAGAA	0.343																																																	0													108	100	102					2																	196642523		1921	4117	6038	SO:0001630	splice_region_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11064+1G>C	2.37:g.196642523C>G			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	-	e59+1	ENST00000312428.6	37	c.11064+1	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126449	0.77549	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0378	0.89309	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH7	196350768	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.522000	0.73783	2.583000	0.87209	0.655000	0.94253	.	DNAH7	-	-		0.343	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	C	NM_018897	Intron	196642523	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	196642523	C	G	196642523	5	3	185	1	0	0	0	0	0	0	1	0	4616	492	17	4	1037	4	DNAH7	2	196642523	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	9177456	196642523	46556850	262	34537										
PGAP1	80055	genome.wustl.edu	37	chr2	197744874	197744874	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtcttgaagtcttaatgtcaGatactaaaataaaaaaaaaa	5	4	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:197744874G>A	ENST00000354764.4	-	13	1390	c.1276C>T	c.(1276-1278)Ctg>Ttg	p.L426L	PGAP1_ENST00000409475.1_Silent_p.L426L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	426					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CTTAATGTCAGATACTAAAAT	0.269																																																	0													46	43	44					2																	197744874		2203	4298	6501	SO:0001819	synonymous_variant	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1276C>T	2.37:g.197744874G>A			Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	pfam_PGAP1-like	p.L426	ENST00000354764.4	37	c.1276	CCDS2318.1	2																																																																																			PGAP1	-	NULL		0.269	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	G	NM_024989		197744874	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	silent	SNP	0.998	A	A	197744874	G	A	197744874	2	1	185	1	0	0	0	0	0	0	0	1	11801	933	33	1		1	PGAP1	2	197744874	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1102351	197744874	45454499	263	34538										
SPATS2L	26010	genome.wustl.edu	37	chr2	201284009	201284009	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaagcaagtccaagcagcatCaaggcaacaaagatgctaaa	9	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:201284009C>G	ENST00000358677.5	+	6	482	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	SPATS2L_ENST00000409988.3_Missense_Mutation_p.Q79E|SPATS2L_ENST00000409140.3_Missense_Mutation_p.Q79E|SPATS2L_ENST00000409385.1_Missense_Mutation_p.Q19E|SPATS2L_ENST00000409755.3_Missense_Mutation_p.Q109E|SPATS2L_ENST00000409151.1_Missense_Mutation_p.Q87E|SPATS2L_ENST00000409718.1_Missense_Mutation_p.Q79E|SPATS2L_ENST00000360760.5_Missense_Mutation_p.Q79E|SPATS2L_ENST00000451764.2_Missense_Mutation_p.Q79E	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	79						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAAGCAGCATCAAGGCAACAA	0.448																																																	0													30	32	32					2																	201284009		1892	4115	6007	SO:0001583	missense	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.235C>G	2.37:g.201284009C>G	ENSP00000351503:p.Gln79Glu		A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.Q109E	ENST00000358677.5	37	c.325	CCDS46483.1	2	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578117	0.28180	.	.	ENSG00000196141	ENST00000439084;ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000439395;ENST00000451764;ENST00000360760;ENST00000423749;ENST00000457757;ENST00000453663;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151;ENST00000421573;ENST00000449647;ENST00000438761	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000020	T	0.55033	0.1895	L	0.33485	1.01	0.36590	D	0.874066	D;P;P	0.59357	0.985;0.75;0.932	D;B;D	0.73708	0.981;0.304;0.926	T	0.51663	-0.8677	9	0.02654	T	1	-19.2593	12.2431	0.54555	0.0:0.9208:0.0:0.0792	.	109;79;79	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	E	79;79;79;79;19;79;79;79;79;79;79;79;79;109;87;79;79;74	.	ENSP00000351503:Q79E	Q	+	1	0	SPATS2L	200992254	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.955000	0.49121	2.820000	0.97059	0.650000	0.86243	CAA	SPATS2L	-	pfam_DUF1387		0.448	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3	C	NM_015535		201284009	1	no_errors	ENST00000409755	ensembl	human	known	70_37	missense	SNP	1.000	G	G	201284009	C	G	201284009	3	3	185	1	0	0	0	0	1	0	0	0	15050	827	29	1	249	1	SPATS2L	2	201284009	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3539135	201284009	41915364	264	34539										
NBEAL1	65065	genome.wustl.edu	37	chr2	203948108	203948108	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tatccttctcagtagcaactCtgatcagcgtcaagtggaaa	8	10	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:203948108C>G	ENST00000449802.1	+	9	1184	c.851C>G	c.(850-852)tCt>tGt	p.S284C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	284										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTAGCAACTCTGATCAGCGT	0.428																																																	0													201	173	181					2																	203948108		692	1591	2283	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.851C>G	2.37:g.203948108C>G	ENSP00000399903:p.Ser284Cys		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S284C	ENST00000449802.1	37	c.851	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551436	0.45487	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.68765	-0.35	5.59	4.71	0.59529	Armadillo-type fold (1);	0.462497	0.21932	N	0.067006	T	0.65217	0.2670	L	0.57536	1.79	0.50039	D	0.999841	B	0.14805	0.011	B	0.16289	0.015	T	0.62632	-0.6813	10	0.51188	T	0.08	.	16.6367	0.85060	0.0:0.87:0.13:0.0	.	284	Q6ZS30	NBEL1_HUMAN	C	284	ENSP00000399903:S284C	ENSP00000344985:S284C	S	+	2	0	NBEAL1	203656353	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.876000	0.63079	1.356000	0.45884	-0.257000	0.10917	TCT	NBEAL1	-	superfamily_ARM-type_fold		0.428	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			203948108	1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	G	G	203948108	C	G	203948108	3	3	185	1	0	0	0	0	1	0	0	0	10211	913	32	1	881	1	NBEAL1	2	203948108	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2664099	203948108	39251265	265	34540										
PARD3B	117583	genome.wustl.edu	37	chr2	205983657	205983657	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcatttaggattctaggactCttcatccgaggcattgaaga	10	8	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:205983657C>G	ENST00000406610.2	+	7	900	c.693C>G	c.(691-693)ctC>ctG	p.L231L	PARD3B_ENST00000349953.3_Silent_p.L231L|PARD3B_ENST00000351153.1_Silent_p.L231L|PARD3B_ENST00000358768.2_Silent_p.L231L|PARD3B_ENST00000462231.1_Silent_p.L231L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	231	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTCTAGGACTCTTCATCCGAG	0.338																																																	0													77	72	74					2																	205983657		1834	4086	5920	SO:0001819	synonymous_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.693C>G	2.37:g.205983657C>G			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L231	ENST00000406610.2	37	c.693		2																																																																																			PARD3B	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.338	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	C	NM_057177		205983657	1	no_errors	ENST00000406610	ensembl	human	known	70_37	silent	SNP	0.995	G	G	205983657	C	G	205983657	2	3	185	1	0	0	0	0	0	0	0	1	11468	900	32	1		1	PARD3B	2	205983657	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2035549	205983657	37215716	266	34541										
ZDBF2	57683	genome.wustl.edu	37	chr2	207173771	207173771	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgattctgatgttccttttCaaatagtagttaaccaattt	5	6	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:207173771C>G	ENST00000374423.3	+	5	4905	c.4519C>G	c.(4519-4521)Caa>Gaa	p.Q1507E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1507							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGTTCCTTTTCAAATAGTAGT	0.408																																																	0													92	92	92					2																	207173771		1876	4103	5979	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4519C>G	2.37:g.207173771C>G	ENSP00000363545:p.Gln1507Glu		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.Q1507E	ENST00000374423.3	37	c.4519	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	C	6.356	0.433737	0.12045	.	.	ENSG00000204186	ENST00000374423	T	0.59364	0.27	4.03	2.2	0.27929	.	.	.	.	.	T	0.43456	0.1248	L	0.37850	1.14	0.24774	N	0.992857	B	0.21452	0.056	B	0.15870	0.014	T	0.23297	-1.0192	9	0.16420	T	0.52	.	10.5438	0.45047	0.0:0.5855:0.4145:0.0	.	1507	Q9HCK1	ZDBF2_HUMAN	E	1507	ENSP00000363545:Q1507E	ENSP00000363545:Q1507E	Q	+	1	0	ZDBF2	206882016	0.999000	0.42202	0.999000	0.59377	0.496000	0.33645	0.590000	0.23954	0.642000	0.30620	-0.165000	0.13383	CAA	ZDBF2	-	NULL		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207173771	1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	1.000	G	G	207173771	C	G	207173771	3	3	185	1	0	0	0	0	1	0	0	0	17629	827	29	1	4529	1	ZDBF2	2	207173771	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1190114	207173771	36025602	267	34542										
ZDBF2	57683	genome.wustl.edu	37	chr2	207173891	207173891	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcagatgatattccccttCagttagtgactgacccacct	6	12	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:207173891C>G	ENST00000374423.3	+	5	5025	c.4639C>G	c.(4639-4641)Cag>Gag	p.Q1547E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1547							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TATTCCCCTTCAGTTAGTGAC	0.403																																																	0													48	49	49					2																	207173891		1860	4092	5952	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4639C>G	2.37:g.207173891C>G	ENSP00000363545:p.Gln1547Glu		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.Q1547E	ENST00000374423.3	37	c.4639	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273105	0.23221	.	.	ENSG00000204186	ENST00000374423	T	0.60920	0.15	3.79	-0.366	0.12545	.	.	.	.	.	T	0.58104	0.2099	L	0.53249	1.67	0.09310	N	1	D	0.53151	0.958	P	0.51550	0.673	T	0.51545	-0.8692	9	0.56958	D	0.05	.	8.3055	0.32041	0.1644:0.3652:0.4704:0.0	.	1547	Q9HCK1	ZDBF2_HUMAN	E	1547	ENSP00000363545:Q1547E	ENSP00000363545:Q1547E	Q	+	1	0	ZDBF2	206882136	0.932000	0.31603	0.024000	0.17045	0.247000	0.25773	0.412000	0.21131	-0.068000	0.12953	-0.179000	0.13096	CAG	ZDBF2	-	NULL		0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207173891	1	no_errors	ENST00000374423	ensembl	human	known	70_37	missense	SNP	0.033	G	G	207173891	C	G	207173891	3	3	185	1	0	0	0	0	1	0	0	0	17629	827	29	1	4649	1	ZDBF2	2	207173891	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	120	207173891	36025482	268	34543										
FZD5	7855	genome.wustl.edu	37	chr2	208633201	208633201	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacagatgggcgtgtacataGagcataggaagaagcgcagg	16	6	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:208633201G>A	ENST00000295417.3	-	2	816	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	88	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.			S -> T (in Ref. 1; AAC50385). {ECO:0000305}.	angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CGTGTACATAGAGCATAGGAA	0.667																																																	0													67	59	62					2																	208633201		2203	4300	6503	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.263C>T	2.37:g.208633201G>A	ENSP00000354607:p.Ser88Phe		A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S88F	ENST00000295417.3	37	c.263	CCDS33366.1	2	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437183	0.62955	.	.	ENSG00000163251	ENST00000295417	T	0.77877	-1.13	4.61	3.66	0.41972	Frizzled domain (5);	0.234213	0.37669	N	0.001983	D	0.90116	0.6912	M	0.93150	3.385	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92418	0.5943	10	0.87932	D	0	.	13.299	0.60313	0.0:0.3309:0.6691:0.0	.	88	Q13467	FZD5_HUMAN	F	88	ENSP00000354607:S88F	ENSP00000354607:S88F	S	-	2	0	FZD5	208341446	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.681000	0.37618	2.126000	0.65437	0.561000	0.74099	TCT	FZD5	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.667	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	G	NM_003468		208633201	-1	no_errors	ENST00000295417	ensembl	human	known	70_37	missense	SNP	1.000	A	A	208633201	G	A	208633201	3	1	185	1	0	0	0	0	1	0	0	0	6151	942	33	1	1498	1	FZD5	2	208633201	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1459310	208633201	34566172	269	34544										
MAP2	4133	genome.wustl.edu	37	chr2	210594923	210594923	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagattgacagccaaaagttGaacttcagagagcatgctaa	9	8	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:210594923G>A	ENST00000360351.4	+	15	5792	c.5286G>A	c.(5284-5286)ttG>ttA	p.L1762L	MAP2_ENST00000199940.6_Silent_p.L494L|MAP2_ENST00000361559.4_Silent_p.L406L|MAP2_ENST00000447185.1_Silent_p.L1758L|MAP2_ENST00000392194.1_Silent_p.L406L	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1762					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GCCAAAAGTTGAACTTCAGAG	0.517																																					Pancreas(27;423 979 28787 29963)												0													76	70	72					2																	210594923		2203	4300	6503	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5286G>A	2.37:g.210594923G>A			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.L1762	ENST00000360351.4	37	c.5286	CCDS2384.1	2																																																																																			MAP2	-	NULL		0.517	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210594923	1	no_errors	ENST00000360351	ensembl	human	known	70_37	silent	SNP	1.000	A	A	210594923	G	A	210594923	2	1	185	1	0	0	0	0	0	0	0	1	9258	1281	45	1		1	MAP2	2	210594923	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1961722	210594923	32604450	270	34545										
ABCA12	26154	genome.wustl.edu	37	chr2	215818592	215818592	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atttacctgagtttctttatCagggattcgttgattaagag	9	5	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:215818592C>G	ENST00000272895.7	-	44	6852	c.6633G>C	c.(6631-6633)ctG>ctC	p.L2211L	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.L1893L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2211					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTCTTTATCAGGGATTCGT	0.343																																					Ovarian(66;664 1488 5121 34295)												0													51	49	50					2																	215818592		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6633G>C	2.37:g.215818592C>G			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2211	ENST00000272895.7	37	c.6633	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215818592	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	0.629	G	G	215818592	C	G	215818592	2	3	185	1	0	0	0	0	0	0	0	1	30	813	29	1		1	ABCA12	2	215818592	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5223669	215818592	27380781	271	34546										
TNS1	7145	genome.wustl.edu	37	chr2	218713588	218713588	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaaggcagcagtggcactgGaggccccggggacaggctcg	17	12	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:218713588G>C	ENST00000171887.4	-	17	1729	c.1277C>G	c.(1276-1278)tCc>tGc	p.S426C	TNS1_ENST00000419504.1_Missense_Mutation_p.S426C|TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Missense_Mutation_p.S426C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	426					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGTGGCACTGGAGGCCCCGGG	0.632																																																	0													67	71	69					2																	218713588		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1277C>G	2.37:g.218713588G>C	ENSP00000171887:p.Ser426Cys		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S426C	ENST00000171887.4	37	c.1277	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	G	3.915	-0.019384	0.07634	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.94376	-2.89;-2.89;-2.9;-3.41	4.92	3.07	0.35406	.	0.805739	0.11557	N	0.552161	D	0.90724	0.7089	L	0.42245	1.32	0.33772	D	0.623202	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.001	D	0.87778	0.2610	10	0.59425	D	0.04	.	15.0245	0.71659	0.0:0.2701:0.7299:0.0	.	426;480;426;426;426	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	C	426;426;426;551	ENSP00000171887:S426C;ENSP00000408724:S426C;ENSP00000406016:S426C;ENSP00000405460:S551C	ENSP00000171887:S426C	S	-	2	0	TNS1	218421833	0.431000	0.25546	0.007000	0.13788	0.045000	0.14185	4.037000	0.57311	0.631000	0.30412	-0.150000	0.13652	TCC	TNS1	-	NULL		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	G	NM_022648		218713588	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	missense	SNP	0.081	C	C	218713588	G	C	218713588	3	2	185	1	0	0	0	0	1	0	0	0	16373	1174	41	1	3998	1	TNS1	2	218713588	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2894996	218713588	24485785	272	34547										
TNS1	7145	genome.wustl.edu	37	chr2	218758228	218758228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgtccatggccttacagatGctgcagatcttctccagggc	11	12	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:218758228G>A	ENST00000171887.4	-	8	728	c.276C>T	c.(274-276)agC>agT	p.S92S	TNS1_ENST00000419504.1_Silent_p.S92S|TNS1_ENST00000310858.6_Silent_p.S123S|TNS1_ENST00000430930.1_Silent_p.S92S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	92	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTTACAGATGCTGCAGATCT	0.552																																																	0													146	125	132					2																	218758228		2203	4300	6503	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.276C>T	2.37:g.218758228G>A			Q4ZG71|Q6IPI5	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S92	ENST00000171887.4	37	c.276	CCDS2407.1	2																																																																																			TNS1	-	smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ		0.552	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	G	NM_022648		218758228	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	silent	SNP	0.992	A	A	218758228	G	A	218758228	2	1	185	1	0	0	0	0	0	0	0	1	16373	1310	46	4		4	TNS1	2	218758228	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	44640	218758228	24441145	273	34548										
ARPC2	10109	genome.wustl.edu	37	chr2	219093488	219093488	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggggtcctctatcatatttCaaatcctaatggagacaaaa	7	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:219093488C>T	ENST00000295685.10	+	3	398	c.137C>T	c.(136-138)tCa>tTa	p.S46L	ARPC2_ENST00000315717.5_Missense_Mutation_p.S46L	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	46					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TATCATATTTCAAATCCTAAT	0.403																																																	0													108	108	108					2																	219093488		2203	4300	6503	SO:0001583	missense	10109			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	705	protein-coding gene	gene with protein product		604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.137C>T	2.37:g.219093488C>T	ENSP00000295685:p.Ser46Leu		Q92801|Q9P1D4	Missense_Mutation	SNP	pfam_P34-arc	p.S46L	ENST00000295685.10	37	c.137	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.117302	0.94385	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.49	5.49	0.81192	.	0.125811	0.56097	D	0.000029	T	0.74291	0.3697	M	0.90759	3.145	0.80722	D	1	B	0.31705	0.336	B	0.33690	0.168	T	0.77590	-0.2531	9	0.72032	D	0.01	.	15.0986	0.72256	0.0:0.859:0.1409:0.0	.	46	O15144	ARPC2_HUMAN	L	46	.	ENSP00000295685:S46L	S	+	2	0	ARPC2	218801733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.848000	0.69458	2.865000	0.98341	0.655000	0.94253	TCA	ARPC2	-	NULL		0.403	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	C	NM_005731		219093488	1	no_errors	ENST00000295685	ensembl	human	known	70_37	missense	SNP	1.000	T	T	219093488	C	T	219093488	3	4	185	1	0	0	0	0	1	0	0	0	972	838	29	1	147	1	ARPC2	2	219093488	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	335260	219093488	24105885	274	34549										
USP37	57695	genome.wustl.edu	37	chr2	219362460	219362460	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaacaattaatactcacattCtgcatataaccagagaatct	3	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:219362460C>G	ENST00000258399.3	-	13	1690	c.1278G>C	c.(1276-1278)caG>caC	p.Q426H	USP37_ENST00000415516.1_Missense_Mutation_p.Q354H|USP37_ENST00000454775.1_Missense_Mutation_p.Q426H|USP37_ENST00000418019.1_Missense_Mutation_p.Q426H|RN7SKP38_ENST00000410782.1_RNA	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	426	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TACTCACATTCTGCATATAAC	0.408																																																	0													116	117	117					2																	219362460		2203	4300	6503	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1278G>C	2.37:g.219362460C>G	ENSP00000258399:p.Gln426His		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.Q426H	ENST00000258399.3	37	c.1278	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	18.54	3.647031	0.67358	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.48	1.04	0.20106	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.056706	0.64402	D	0.000001	T	0.65698	0.2716	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66264	-0.5967	10	0.87932	D	0	-3.1645	11.033	0.47785	0.0:0.6291:0.0:0.3709	.	354;426	Q86T82-2;Q86T82	.;UBP37_HUMAN	H	426;426;354;426	ENSP00000258399:Q426H;ENSP00000393662:Q426H;ENSP00000400902:Q354H;ENSP00000396585:Q426H	ENSP00000258399:Q426H	Q	-	3	2	USP37	219070704	0.979000	0.34478	1.000000	0.80357	0.986000	0.74619	0.240000	0.18042	0.270000	0.21984	0.551000	0.68910	CAG	USP37	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.408	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	C	NM_020935		219362460	-1	no_errors	ENST00000258399	ensembl	human	known	70_37	missense	SNP	0.998	G	G	219362460	C	G	219362460	3	3	185	1	0	0	0	0	1	0	0	0	17099	912	32	1	1717	1	USP37	2	219362460	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	268972	219362460	23836913	275	34550										
PLCD4	84812	genome.wustl.edu	37	chr2	219495403	219495403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acccagtcatcttgtccctgGagacccactgcagctgggag	11	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:219495403G>A	ENST00000450993.2	+	9	1489	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000417849.1_Missense_Mutation_p.E384K|PLCD4_ENST00000432688.1_Missense_Mutation_p.E384K	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	384	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTTGTCCCTGGAGACCCACTG	0.567																																																	0													57	59	58					2																	219495403		2035	4184	6219	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1150G>A	2.37:g.219495403G>A	ENSP00000388631:p.Glu384Lys		Q53FS8	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E384K	ENST00000450993.2	37	c.1150	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.671278	0.96754	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.63417	-0.04;-0.04;-0.04	5.03	5.03	0.67393	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.161273	0.56097	D	0.000039	D	0.86818	0.6024	H	0.99890	4.9	0.80722	D	1	D	0.54207	0.965	P	0.53722	0.733	D	0.93070	0.6482	10	0.72032	D	0.01	.	17.3528	0.87328	0.0:0.0:1.0:0.0	.	384	Q9BRC7	PLCD4_HUMAN	K	384	ENSP00000388631:E384K;ENSP00000396942:E384K;ENSP00000396185:E384K	ENSP00000251959:E384K	E	+	1	0	PLCD4	219203647	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.632000	0.98428	2.624000	0.88883	0.586000	0.80456	GAG	PLCD4	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.567	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	G			219495403	1	no_errors	ENST00000417849	ensembl	human	known	70_37	missense	SNP	1.000	A	A	219495403	G	A	219495403	3	1	185	1	0	0	0	0	1	0	0	0	12057	1175	41	1	1180	1	PLCD4	2	219495403	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	132943	219495403	23703970	276	34551										
FAM134A	79137	genome.wustl.edu	37	chr2	220047220	220047220	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctggatcagggggagctgGagcagctgaatgcagagctg	18	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:220047220G>C	ENST00000430297.2	+	9	1637	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	501						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGGAGCTGGAGCAGCTGAA	0.617																																																	0													62	65	64					2																	220047220		2203	4300	6503	SO:0001583	missense	79137			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1501G>C	2.37:g.220047220G>C	ENSP00000395249:p.Glu501Gln		Q6P1P5|Q9H0K7	Missense_Mutation	SNP	pfam_Reticulon	p.E501Q	ENST00000430297.2	37	c.1501	CCDS2434.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.461284|4.461284	0.84317|0.84317	.|.	.|.	ENSG00000144567|ENSG00000144567	ENST00000430297;ENST00000443518|ENST00000420189	T|.	0.48522|.	0.81|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.204664|.	0.41712|.	D|.	0.000824|.	T|T	0.75042|0.75042	0.3796|0.3796	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.66351|.	0.943;0.915|.	T|T	0.73196|0.73196	-0.4059|-0.4059	10|5	0.48119|.	T|.	0.1|.	-13.6773|-13.6773	19.012|19.012	0.92877|0.92877	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	259;501|.	E7EUL4;Q8NC44|.	.;F134A_HUMAN|.	Q|A	501;259|160	ENSP00000395249:E501Q|.	ENSP00000395249:E501Q|.	E|G	+|+	1|2	0|0	FAM134A|FAM134A	219755464|219755464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.743000|8.743000	0.91592|0.91592	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GAG|GGA	FAM134A	-	NULL		0.617	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134A	HGNC	protein_coding	OTTHUMT00000336147.2	G	NM_024293		220047220	1	no_errors	ENST00000430297	ensembl	human	known	70_37	missense	SNP	1.000	C	C	220047220	G	C	220047220	3	2	185	1	0	0	0	0	1	0	0	0	5460	1175	41	1	1535	1	FAM134A	2	220047220	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	551817	220047220	23152153	277	34552										
OBSL1	23363	genome.wustl.edu	37	chr2	220431664	220431664	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtctgtgctgcagacccttCtgctctatacggtaccgcag	10	13	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:220431664C>G	ENST00000404537.1	-	5	2078	c.2022G>C	c.(2020-2022)caG>caC	p.Q674H	OBSL1_ENST00000265318.4_Missense_Mutation_p.Q674H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q674H|OBSL1_ENST00000373873.4_Missense_Mutation_p.Q674H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q674H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q261H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	674					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGACCCTTCTGCTCTATAC	0.627																																																	0													42	47	45					2																	220431664		2011	4173	6184	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2022G>C	2.37:g.220431664C>G	ENSP00000385636:p.Gln674His		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q674H	ENST00000404537.1	37	c.2022	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	3.122	-0.180305	0.06380	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.05	-0.185	0.13276	Immunoglobulin-like fold (1);	.	.	.	.	T	0.21921	0.0528	N	0.13352	0.335	0.20638	N	0.999879	B;B;B;B	0.11235	0.001;0.003;0.0;0.004	B;B;B;B	0.14578	0.005;0.008;0.001;0.011	T	0.25882	-1.0119	9	0.20046	T	0.44	.	7.1707	0.25717	0.1156:0.2637:0.543:0.0776	.	675;674;261;674	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	H	674;674;674;674;261	ENSP00000265318:Q674H;ENSP00000385636:Q674H;ENSP00000362983:Q674H;ENSP00000362980:Q674H;ENSP00000289656:Q261H	ENSP00000265318:Q674H	Q	-	3	2	OBSL1	220139908	0.001000	0.12720	0.936000	0.37596	0.412000	0.31113	-0.302000	0.08221	0.010000	0.14839	0.655000	0.94253	CAG	OBSL1	-	smart_Ig_sub		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220431664	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.024	G	G	220431664	C	G	220431664	3	3	185	1	0	0	0	0	1	0	0	0	10837	912	32	1	3888	1	OBSL1	2	220431664	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	384444	220431664	22767709	278	34553										
IRS1	3667	genome.wustl.edu	37	chr2	227660829	227660829	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgctgctgctgctgctgctCtcgggcccgaggtaaggtgc	15	13	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:227660829C>G	ENST00000305123.5	-	1	3646	c.2626G>C	c.(2626-2628)Gag>Cag	p.E876Q	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	876					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		tgctgctgctCTCGGGCCCGA	0.612																																																	0													28	38	34					2																	227660829		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2626G>C	2.37:g.227660829C>G	ENSP00000304895:p.Glu876Gln			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.E876Q	ENST00000305123.5	37	c.2626	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656965	0.67586	.	.	ENSG00000169047	ENST00000305123	T	0.69926	-0.44	4.96	4.96	0.65561	.	0.067771	0.56097	D	0.000028	T	0.64864	0.2637	L	0.29908	0.895	0.46981	D	0.999271	P	0.47191	0.891	P	0.49047	0.599	T	0.65203	-0.6225	10	0.40728	T	0.16	-9.3555	17.9781	0.89132	0.0:1.0:0.0:0.0	.	876	P35568	IRS1_HUMAN	Q	876	ENSP00000304895:E876Q	ENSP00000304895:E876Q	E	-	1	0	IRS1	227369073	0.999000	0.42202	0.963000	0.40424	0.946000	0.59487	4.332000	0.59279	2.573000	0.86826	0.650000	0.86243	GAG	IRS1	-	NULL		0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	C	NM_005544		227660829	-1	no_errors	ENST00000305123	ensembl	human	known	70_37	missense	SNP	1.000	G	G	227660829	C	G	227660829	3	3	185	1	0	0	0	0	1	0	0	0	7860	922	32	1	1106	1	IRS1	2	227660829	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7229165	227660829	15538544	279	34554										
COL4A3	1285	genome.wustl.edu	37	chr2	228134682	228134682	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtccccaggaaatacaggtCttccaggatttccagtaaga	10	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:228134682C>G	ENST00000396578.3	+	24	1723	c.1561C>G	c.(1561-1563)Ctt>Gtt	p.L521V	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	521	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAATACAGGTCTTCCAGGATT	0.408																																																	0													79	80	80					2																	228134682		1843	4099	5942	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1561C>G	2.37:g.228134682C>G	ENSP00000379823:p.Leu521Val		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L521V	ENST00000396578.3	37	c.1561	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	2.799	-0.249617	0.05867	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93133	-3.17	5.89	4.07	0.47477	.	0.254426	0.28031	N	0.016864	D	0.93949	0.8063	L	0.57130	1.785	0.19575	N	0.999963	D;D;P;P	0.71674	0.998;0.998;0.607;0.659	D;D;B;B	0.63283	0.913;0.913;0.255;0.372	D	0.86378	0.1727	10	0.27785	T	0.31	.	8.1235	0.30984	0.0:0.7577:0.1586:0.0836	.	521;521;521;521	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	V	521	ENSP00000379823:L521V	ENSP00000323334:L521V	L	+	1	0	COL4A3	227842926	0.144000	0.22641	0.508000	0.27688	0.324000	0.28378	1.333000	0.33816	0.806000	0.34183	-0.136000	0.14681	CTT	COL4A3	-	pfam_Collagen		0.408	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	C	NM_000091		228134682	1	no_errors	ENST00000396578	ensembl	human	known	70_37	missense	SNP	0.410	G	G	228134682	C	G	228134682	3	3	185	1	0	0	0	0	1	0	0	0	3696	913	32	1	1655	1	COL4A3	2	228134682	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	473853	228134682	15064691	280	34555										
COL4A3	1285	genome.wustl.edu	37	chr2	228172593	228172593	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctacagtgggttttcttttCtttttgtacaaggaaatcaa	7	6	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:228172593C>G	ENST00000396578.3	+	48	4582	c.4420C>G	c.(4420-4422)Ctt>Gtt	p.L1474V	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1474	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		L -> P (in dbSNP:rs200302125). {ECO:0000269|PubMed:11134255, ECO:0000269|PubMed:7987301}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTTTTCTTTTCTTTTTGTACA	0.478																																																	0			GRCh37	CD941651	COL4A3	D							82	79	80					2																	228172593		1892	4109	6001	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4420C>G	2.37:g.228172593C>G	ENSP00000379823:p.Leu1474Val		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L1474V	ENST00000396578.3	37	c.4420	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294704	0.60086	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000315699	D	0.94897	-3.55	5.9	5.9	0.94986	C-type lectin fold (1);	0.000000	0.53938	D	0.000057	D	0.96929	0.8997	M	0.64080	1.96	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.99;0.994	D	0.96845	0.9621	10	0.72032	D	0.01	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	1474;1474;1474	Q01955-4;Q01955-2;Q01955	.;.;CO4A3_HUMAN	V	1474	ENSP00000379823:L1474V	ENSP00000323334:L1474V	L	+	1	0	COL4A3	227880837	1.000000	0.71417	0.999000	0.59377	0.359000	0.29487	3.779000	0.55379	2.808000	0.96608	0.650000	0.86243	CTT	COL4A3	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC		0.478	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	C	NM_000091		228172593	1	no_errors	ENST00000396578	ensembl	human	known	70_37	missense	SNP	1.000	G	G	228172593	C	G	228172593	3	3	185	1	0	0	0	0	1	0	0	0	3696	913	32	1	4610	1	COL4A3	2	228172593	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	37911	228172593	15026780	281	34556										
TRIP12	9320	genome.wustl.edu	37	chr2	230633395	230633395	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taacctctgctgctcattatCaaaactactgagaatctcaa	4	11	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:230633395C>G	ENST00000283943.5	-	40	5897	c.5719G>C	c.(5719-5721)Gat>Cat	p.D1907H	TRIP12_ENST00000389044.4_Missense_Mutation_p.D1955H|TRIP12_ENST00000389045.3_Missense_Mutation_p.D1637H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1907	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGCTCATTATCAAAACTACTG	0.358																																																	0													100	92	95					2																	230633395		2203	4300	6503	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5719G>C	2.37:g.230633395C>G	ENSP00000283943:p.Asp1907His		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.D1907H	ENST00000283943.5	37	c.5719	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025881	0.93518	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000418123	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.97	5.97	0.96955	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.81807	-0.0763	10	0.66056	D	0.02	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	1637;1955;1907	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	H	1907;1637;1955;167	ENSP00000283943:D1907H;ENSP00000373697:D1637H;ENSP00000373696:D1955H;ENSP00000408330:D167H	ENSP00000283943:D1907H	D	-	1	0	TRIP12	230341639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.405000	0.80007	2.835000	0.97688	0.591000	0.81541	GAT	TRIP12	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.358	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	C	NM_004238		230633395	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	missense	SNP	1.000	G	G	230633395	C	G	230633395	3	3	185	1	0	0	0	0	1	0	0	0	16587	826	29	1	267	1	TRIP12	2	230633395	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2460802	230633395	12565978	282	34557										
TRIP12	9320	genome.wustl.edu	37	chr2	230636303	230636303	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaatccatctctgaacgaatCaaattgcctagaaacgcctt	5	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:230636303C>G	ENST00000283943.5	-	38	5693	c.5515G>C	c.(5515-5517)Gat>Cat	p.D1839H	TRIP12_ENST00000389044.4_Missense_Mutation_p.D1887H|TRIP12_ENST00000389045.3_Missense_Mutation_p.D1569H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1839					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGAACGAATCAAATTGCCTA	0.368																																																	0													85	83	84					2																	230636303		2203	4300	6503	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5515G>C	2.37:g.230636303C>G	ENSP00000283943:p.Asp1839His		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.D1839H	ENST00000283943.5	37	c.5515	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790522	0.90367	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.45276	0.9;0.9;0.9	5.85	5.85	0.93711	HECT (4);	0.044715	0.85682	D	0.000000	T	0.58119	0.2100	L	0.45228	1.405	0.80722	D	1	P;P;P	0.49783	0.57;0.928;0.928	P;P;P	0.61592	0.664;0.891;0.891	T	0.57075	-0.7873	10	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1569;1887;1839	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	H	1839;1569;1887	ENSP00000283943:D1839H;ENSP00000373697:D1569H;ENSP00000373696:D1887H	ENSP00000283943:D1839H	D	-	1	0	TRIP12	230344547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.308000	0.78929	2.767000	0.95098	0.563000	0.77884	GAT	TRIP12	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.368	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	C	NM_004238		230636303	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	missense	SNP	1.000	G	G	230636303	C	G	230636303	3	3	185	1	0	0	0	0	1	0	0	0	16587	826	29	1	479	1	TRIP12	2	230636303	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2908	230636303	12563070	283	34558										
SP100	6672	genome.wustl.edu	37	chr2	231309055	231309055	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcacatttataaaggctttGaaaatggtaattagatttat	6	3	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:231309055G>C	ENST00000264052.5	+	4	788	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	SP100_ENST00000409897.1_Missense_Mutation_p.E110Q|SP100_ENST00000427101.2_Missense_Mutation_p.E120Q|SP100_ENST00000409341.1_Missense_Mutation_p.E145Q|SP100_ENST00000409824.1_Missense_Mutation_p.E120Q|SP100_ENST00000409112.1_Missense_Mutation_p.E145Q|SP100_ENST00000341950.4_Missense_Mutation_p.E145Q|SP100_ENST00000340126.4_Missense_Mutation_p.E145Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	145	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAAAGGCTTTGAAAATGGTAA	0.363																																																	0													92	95	94					2																	231309055		2202	4300	6502	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.433G>C	2.37:g.231309055G>C	ENSP00000264052:p.Glu145Gln		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.E145Q	ENST00000264052.5	37	c.433	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254498	0.01457	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	3.89	-3.87	0.04218	Sp100 (2);	.	.	.	.	D	0.88265	0.6390	L	0.41356	1.27	0.09310	N	1	B;B;B;B;P;B;B;B	0.45634	0.056;0.097;0.028;0.007;0.863;0.071;0.035;0.056	B;B;B;B;P;B;B;B	0.49361	0.043;0.051;0.072;0.014;0.608;0.025;0.063;0.069	T	0.79562	-0.1752	9	0.13853	T	0.58	.	2.6438	0.04978	0.3161:0.1204:0.4417:0.1218	.	120;145;110;145;145;145;120;145	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	Q	145;120;120;120;145;145;145;145;110	ENSP00000264052:E145Q;ENSP00000399389:E120Q;ENSP00000391616:E120Q;ENSP00000387311:E120Q;ENSP00000386404:E145Q;ENSP00000386427:E145Q;ENSP00000343023:E145Q;ENSP00000342729:E145Q;ENSP00000386998:E110Q	ENSP00000264052:E145Q	E	+	1	0	SP100	231017299	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.382000	0.01064	-1.165000	0.02786	-1.298000	0.01336	GAA	SP100	-	pfam_Sp100		0.363	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	G	NM_003113		231309055	1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.000	C	C	231309055	G	C	231309055	3	2	185	1	0	0	0	0	1	0	0	0	14990	1291	45	1	447	1	SP100	2	231309055	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	672752	231309055	11890318	284	34559										
NCL	4691	genome.wustl.edu	37	chr2	232321788	232321788	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacttcctgaagagtttcttCtgttgcactgtaggagaggt	11	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:232321788C>G	ENST00000322723.4	-	10	1735	c.1495G>C	c.(1495-1497)Gaa>Caa	p.E499Q	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	499	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGAGTTTCTTCTGTTGCACTG	0.388																																																	0													120	121	121					2																	232321788		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1495G>C	2.37:g.232321788C>G	ENSP00000318195:p.Glu499Gln		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.E499Q	ENST00000322723.4	37	c.1495	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405044	0.83230	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;T	0.79845	-1.31;2.01	5.76	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092196	0.85682	D	0.000000	D	0.86393	0.5922	L	0.50919	1.6	0.54753	D	0.999988	D	0.76494	0.999	D	0.77557	0.99	D	0.87023	0.2130	10	0.56958	D	0.05	-31.0286	14.3733	0.66857	0.0:0.9281:0.0:0.0719	.	499	P19338	NUCL_HUMAN	Q	499;391;271;124	ENSP00000318195:E499Q;ENSP00000349410:E124Q	ENSP00000318195:E499Q	E	-	1	0	NCL	232030032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.104000	0.57790	1.420000	0.47138	0.558000	0.71614	GAA	NCL	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.388	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	C	NM_005381		232321788	-1	no_errors	ENST00000322723	ensembl	human	known	70_37	missense	SNP	1.000	G	G	232321788	C	G	232321788	3	3	185	1	0	0	0	0	1	0	0	0	10250	922	32	1	657	1	NCL	2	232321788	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1012733	232321788	10877585	285	34560										
INPP5D	3635	genome.wustl.edu	37	chr2	234078039	234078039	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgacttcaggaagtgaaaaGaaactcaggtaatggaactc	10	6	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:234078039G>C	ENST00000359570.5	+	16	1608	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	INPP5D_ENST00000455936.2_Missense_Mutation_p.K300N|INPP5D_ENST00000538935.1_Missense_Mutation_p.K535N|INPP5D_ENST00000450745.1_Missense_Mutation_p.K300N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	548					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GAAGTGAAAAGAAACTCAGGT	0.512																																					NSCLC(82;1215 1426 16163 20348 41018)												0													52	54	53					2																	234078039		1942	4132	6074	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1608G>C	2.37:g.234078039G>C	ENSP00000352575:p.Lys536Asn		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.K536N	ENST00000359570.5	37	c.1608		2	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865463	0.71949	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	4.37	3.48	0.39840	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.88680	0.6502	.	.	.	0.47737	D	0.999507	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89250	0.3590	9	0.87932	D	0	.	11.4379	0.50078	0.0893:0.0:0.9107:0.0	.	547;548	Q92835-2;Q92835	.;SHIP1_HUMAN	N	536;535;300;300;169;169;169	ENSP00000352575:K536N;ENSP00000441010:K535N;ENSP00000407916:K300N;ENSP00000404610:K300N;ENSP00000400151:K169N;ENSP00000397421:K169N;ENSP00000405338:K169N	ENSP00000352575:K536N	K	+	3	2	INPP5D	233742104	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.398000	0.44486	1.029000	0.39812	0.561000	0.74099	AAG	INPP5D	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.512	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		G	NM_001017915		234078039	1	no_errors	ENST00000359570	ensembl	human	known	70_37	missense	SNP	1.000	C	C	234078039	G	C	234078039	3	2	185	1	0	0	0	0	1	0	0	0	7776	933	33	1	1206	1	INPP5D	2	234078039	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1756251	234078039	9121334	286	34561										
TRPM8	79054	genome.wustl.edu	37	chr2	234894477	234894477	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacatgttatccaccaacatCctgctggtcaacctgctggt	7	13	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:234894477C>G	ENST00000324695.4	+	21	2947	c.2907C>G	c.(2905-2907)atC>atG	p.I969M	TRPM8_ENST00000433712.2_Missense_Mutation_p.I547M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	969					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCACCAACATCCTGCTGGTCA	0.577																																																	0													131	89	104					2																	234894477		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2907C>G	2.37:g.234894477C>G	ENSP00000323926:p.Ile969Met		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.I969M	ENST00000324695.4	37	c.2907	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595011	0.66219	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.42900	0.96;0.96;0.96	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.64402	D	0.000007	T	0.69663	0.3136	M	0.87900	2.915	0.26274	N	0.978377	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	T	0.67078	-0.5761	10	0.87932	D	0	-30.825	16.7901	0.85586	0.0:1.0:0.0:0.0	.	547;969	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	M	969;547;230	ENSP00000323926:I969M;ENSP00000404423:I547M;ENSP00000414198:I230M	ENSP00000323926:I969M	I	+	3	3	TRPM8	234559216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.876000	0.56115	2.306000	0.77630	0.591000	0.81541	ATC	TRPM8	-	pfam_Ion_trans_dom		0.577	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	C	NM_024080		234894477	1	no_errors	ENST00000324695	ensembl	human	known	70_37	missense	SNP	1.000	G	G	234894477	C	G	234894477	3	3	185	1	0	0	0	0	1	0	0	0	16623	845	30	1	2985	1	TRPM8	2	234894477	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	816438	234894477	8304896	287	34562										
COL6A3	1293	genome.wustl.edu	37	chr2	238283622	238283622	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaagccgctcctgacgccctCagagccatcaagcagaaaca	9	15	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:238283622C>G	ENST00000295550.4	-	8	3564	c.3112G>C	c.(3112-3114)Gag>Cag	p.E1038Q	COL6A3_ENST00000392003.2_Missense_Mutation_p.E631Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E837Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E832Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.E832Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E838Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E832Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E431Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1038	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGACGCCCTCAGAGCCATCA	0.557																																																	0													46	49	48					2																	238283622		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3112G>C	2.37:g.238283622C>G	ENSP00000295550:p.Glu1038Gln		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E1038Q	ENST00000295550.4	37	c.3112	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061705	0.55432	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.475314	0.18877	N	0.128666	D	0.82949	0.5148	N	0.05330	-0.07	0.80722	D	1	D;P;P;D;P	0.63046	0.991;0.771;0.771;0.992;0.549	D;P;P;D;B	0.69824	0.966;0.742;0.742;0.939;0.224	D	0.84239	0.0471	10	0.36615	T	0.2	.	19.4129	0.94683	0.0:1.0:0.0:0.0	.	431;631;832;832;1038	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	Q	1038;837;832;431;832;838;832;631	ENSP00000295550:E1038Q;ENSP00000315609:E837Q;ENSP00000315873:E832Q;ENSP00000418285:E431Q;ENSP00000386844:E832Q;ENSP00000295546:E838Q;ENSP00000375861:E832Q;ENSP00000375860:E631Q	ENSP00000295550:E1038Q	E	-	1	0	COL6A3	237948361	1.000000	0.71417	0.649000	0.29536	0.042000	0.13812	5.876000	0.69667	2.652000	0.90054	0.655000	0.94253	GAG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238283622	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	G	G	238283622	C	G	238283622	3	3	185	1	0	0	0	0	1	0	0	0	3706	835	29	1	6616	1	COL6A3	2	238283622	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3389145	238283622	4915751	288	34563										
OR6B2	389090	genome.wustl.edu	37	chr2	240969076	240969076	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcttggggccggacatacatGaaaagcaaggctgtatagaa	13	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:240969076G>A	ENST00000402971.2	-	1	830	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGACATACATGAAAAGCAAGG	0.542																																																	0													74	77	76					2																	240969076		2028	4177	6205	SO:0001819	synonymous_variant	389090				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.771C>T	2.37:g.240969076G>A			B2RPR3|Q8NGW0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F257	ENST00000402971.2	37	c.771	CCDS46559.1	2																																																																																			OR6B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	G	NM_001005853		240969076	-1	no_errors	ENST00000402971	ensembl	human	known	70_37	silent	SNP	0.996	A	A	240969076	G	A	240969076	2	1	185	1	0	0	0	0	0	0	0	1	11212	1281	45	1		1	OR6B2	2	240969076	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2685454	240969076	2230297	289	34564										
GPC1	2817	genome.wustl.edu	37	chr2	241404942	241404942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaaccagatcaacaaccccGaggtggaggtggacatcacc	10	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:241404942G>A	ENST00000264039.2	+	8	1569	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	441					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CAACAACCCCGAGGTGGAGGT	0.622																																																	0													109	90	96					2																	241404942		2203	4300	6503	SO:0001583	missense	2817			AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.1321G>A	2.37:g.241404942G>A	ENSP00000264039:p.Glu441Lys		B3KTD1|Q53QM4	Missense_Mutation	SNP	pfam_Glypican	p.E441K	ENST00000264039.2	37	c.1321	CCDS2534.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.644268|4.644268	0.87859|0.87859	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000264039|ENST00000420138;ENST00000455111	T|.	0.64991|.	-0.13|.	3.56|3.56	3.56|3.56	0.40772|0.40772	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.80396|0.80396	0.4615|0.4615	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.84996|0.84996	0.0897|0.0897	10|5	0.87932|.	D|.	0|.	-26.2632|-26.2632	12.9948|12.9948	0.58640|0.58640	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	441|.	P35052|.	GPC1_HUMAN|.	K|Q	441|480;192	ENSP00000264039:E441K|.	ENSP00000264039:E441K|.	E|R	+|+	1|2	0|0	GPC1|GPC1	241053615|241053615	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.950000|0.950000	0.60333|0.60333	7.481000|7.481000	0.81124|0.81124	1.704000|1.704000	0.51252|0.51252	0.551000|0.551000	0.68910|0.68910	GAG|CGA	GPC1	-	pfam_Glypican		0.622	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC1	HGNC	protein_coding	OTTHUMT00000257179.3	G	NM_002081		241404942	1	no_errors	ENST00000264039	ensembl	human	known	70_37	missense	SNP	1.000	A	A	241404942	G	A	241404942	3	1	185	1	0	0	0	0	1	0	0	0	6616	1059	37	1	1351	1	GPC1	2	241404942	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	435866	241404942	1794431	290	34565										
FARP2	9855	genome.wustl.edu	37	chr2	242407698	242407698	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctctcaacacgttcctgctGaagcccatccagcggctgct	8	17	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr2:242407698G>A	ENST00000264042.3	+	18	2207	c.2037G>A	c.(2035-2037)ctG>ctA	p.L679L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	679	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CGTTCCTGCTGAAGCCCATCC	0.567																																																	0													92	78	83					2																	242407698		2203	4300	6503	SO:0001819	synonymous_variant	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2037G>A	2.37:g.242407698G>A			B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.L679	ENST00000264042.3	37	c.2037	CCDS33424.1	2																																																																																			FARP2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.567	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242407698	1	no_errors	ENST00000264042	ensembl	human	known	70_37	silent	SNP	0.999	A	A	242407698	G	A	242407698	2	1	185	1	0	0	0	0	0	0	0	1	5695	1277	45	1		1	FARP2	2	242407698	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1002756	242407698	791675	291	34566										
CNTN6	27255	genome.wustl.edu	37	chr3	1369193	1369193	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cataacgatgctgaatgtgtCagattctggtgtgtaccaat	10	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:1369193C>T	ENST00000446702.2	+	10	1763	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	CNTN6_ENST00000539053.1_Missense_Mutation_p.S307L|CNTN6_ENST00000350110.2_Missense_Mutation_p.S379L			Q9UQ52	CNTN6_HUMAN	contactin 6	379	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGAATGTGTCAGATTCTGGT	0.333																																																	0													110	107	108					3																	1369193		2203	4298	6501	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1136C>T	3.37:g.1369193C>T	ENSP00000407822:p.Ser379Leu		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S379L	ENST00000446702.2	37	c.1136	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479689	0.63849	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.83250	-1.7;-1.7;-1.7	5.13	5.13	0.70059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000187	D	0.89199	0.6647	L	0.53671	1.685	0.53688	D	0.999971	D	0.89917	1.0	D	0.87578	0.998	D	0.89741	0.3933	10	0.62326	D	0.03	.	17.138	0.86745	0.0:1.0:0.0:0.0	.	379	Q9UQ52	CNTN6_HUMAN	L	379;307;379	ENSP00000407822:S379L;ENSP00000442791:S307L;ENSP00000341882:S379L	ENSP00000341882:S379L	S	+	2	0	CNTN6	1344193	0.996000	0.38824	0.665000	0.29768	0.962000	0.63368	4.259000	0.58828	2.537000	0.85549	0.555000	0.69702	TCA	CNTN6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.333	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	C	NM_014461		1369193	1	no_errors	ENST00000350110	ensembl	human	known	70_37	missense	SNP	0.982	T	T	1369193	C	T	1369193	3	4	185	1	0	0	0	0	1	0	0	0	3650	838	29	1	1170	1	CNTN6	3	1369193	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		1369193	196653237	292	34567										
LHFPL4	375323	genome.wustl.edu	37	chr3	9543896	9543896	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggctgtgatcctggcctttCagggtccctgtgagtgagcc	15	11	1	3	rs201579364		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:9543896C>T	ENST00000287585.6	-	4	1028	c.743G>A	c.(742-744)tGa>tAa	p.*248*	RP11-58B17.2_ENST00000602693.1_lincRNA	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	0						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CCTGGCCTTTCAGGGTCCCTG	0.587													C|||	1	0.000199681	0	0	5008	,	,		17774	0		0.001	False		,,,				2504	0																0													47	43	45					3																	9543896		2203	4300	6503	SO:0001819	synonymous_variant	375323			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.743G>A	3.37:g.9543896C>T			A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.*248	ENST00000287585.6	37	c.743	CCDS33691.1	3																																																																																			LHFPL4	-	NULL		0.587	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL4	HGNC	protein_coding	OTTHUMT00000338298.1	C	NM_198560		9543896	-1	no_errors	ENST00000287585	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9543896	C	T	9543896	2	4	185	1	0	0	0	0	0	0	0	1	8787	837	29	1		1	LHFPL4	3	9543896	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	8174703	9543896	188478534	293	34568										
MTMR14	64419	genome.wustl.edu	37	chr3	9743521	9743521	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcggctgcaggaggtgcgctCagccttcttggctgcgtaca	14	12	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:9743521C>T	ENST00000296003.4	+	19	1939	c.1817C>T	c.(1816-1818)tCa>tTa	p.S606L	CPNE9_ENST00000383831.3_5'Flank|MTMR14_ENST00000351233.5_Missense_Mutation_p.S494L|MTMR14_ENST00000420925.1_Missense_Mutation_p.S248L|MTMR14_ENST00000353332.5_Missense_Mutation_p.S554L|CPNE9_ENST00000383832.3_5'Flank	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	606					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GAGGTGCGCTCAGCCTTCTTG	0.612																																																	0													45	51	49					3																	9743521		1970	4149	6119	SO:0001583	missense	64419			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1817C>T	3.37:g.9743521C>T	ENSP00000296003:p.Ser606Leu		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	NULL	p.S606L	ENST00000296003.4	37	c.1817	CCDS43043.1	3	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697056	0.68386	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233	D	0.97404	-4.37	5.4	4.52	0.55395	.	0.174796	0.51477	D	0.000096	D	0.95281	0.8469	L	0.48642	1.525	0.27264	N	0.958555	B;B;P;B	0.40083	0.1;0.001;0.702;0.376	B;B;B;B	0.39904	0.054;0.005;0.313;0.115	D	0.90463	0.4447	10	0.52906	T	0.07	-5.3031	16.2775	0.82651	0.0:0.8675:0.1325:0.0	.	248;494;554;606	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	L	554;248;606;494	ENSP00000401993:S248L	ENSP00000296003:S606L	S	+	2	0	MTMR14	9718521	0.999000	0.42202	0.999000	0.59377	0.989000	0.77384	4.502000	0.60400	1.252000	0.44001	0.561000	0.74099	TCA	MTMR14	-	NULL		0.612	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1	C	NM_022485		9743521	1	no_errors	ENST00000296003	ensembl	human	known	70_37	missense	SNP	0.979	T	T	9743521	C	T	9743521	3	4	185	1	0	0	0	0	1	0	0	0	9965	838	29	1	1891	1	MTMR14	3	9743521	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	199625	9743521	188278909	294	34569										
OGG1	8536	genome.wustl.edu	37	chr3	9800959	9800959	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaattacagacttcttcctCtagacttggaggtgagggac	11	8	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:9800959C>G	ENST00000256460.3	-	10	1090				OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Missense_Mutation_p.S346C|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_3'UTR	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I						cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		ACTTCTTCCTCTAGACTTGGA	0.463																																																	0													117	115	115					3																	9800959		2203	4300	6503	SO:0001627	intron_variant	4968			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.912+212G>C	3.37:g.9800959C>G			Q3KPF6	Missense_Mutation	SNP	pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	p.S346C	ENST00000256460.3	37	c.1037	CCDS2582.1	3	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256875	0.22965	.	.	ENSG00000114026	ENST00000302008	T	0.61627	0.09	4.37	-0.678	0.11353	.	.	.	.	.	T	0.39384	0.1076	L	0.29908	0.895	0.23594	N	0.997336	B	0.12013	0.005	B	0.06405	0.002	T	0.32402	-0.9908	9	0.72032	D	0.01	.	3.8853	0.09096	0.0:0.3923:0.1852:0.4225	.	346	E5KPM7	.	C	346	ENSP00000305527:S346C	ENSP00000305527:S346C	S	+	2	0	OGG1	9775959	0.000000	0.05858	0.012000	0.15200	0.197000	0.23852	-0.294000	0.08309	-0.048000	0.13401	0.655000	0.94253	TCT	OGG1	-	NULL		0.463	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000250206.1	C	NM_003656		9800959	1	no_errors	ENST00000302008	ensembl	human	known	70_37	missense	SNP	0.004	G	G	9800959	C	G	9800959	1	3	185	0	1	0	0	0	0	0	0	0	10869	913	32	1		1	OGG1	3	9800959	Intron	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	57438	9800959	188221471	295	34570										
CAMK1	8536	genome.wustl.edu	37	chr3	9803370	9803370	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acactgcccgggtcctccatCttggagaggccaaagtcgga	12	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:9803370C>G	ENST00000256460.3	-	6	678	c.501G>C	c.(499-501)aaG>aaC	p.K167N	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GGTCCTCCATCTTGGAGAGGC	0.607																																																	0													69	70	70					3																	9803370		2203	4300	6503	SO:0001583	missense	8536			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.501G>C	3.37:g.9803370C>G	ENSP00000256460:p.Lys167Asn		Q3KPF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K167N	ENST00000256460.3	37	c.501	CCDS2582.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.016639|4.016639	0.75161|0.75161	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000421120|ENST00000256460	.|T	.|0.46063	.|0.88	4.58|4.58	3.71|3.71	0.42584|0.42584	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59918|0.59918	0.2229|0.2229	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.61964|0.61964	-0.6954|-0.6954	5|10	.|0.87932	.|D	.|0	-19.9487|-19.9487	9.3321|9.3321	0.38027|0.38027	0.0:0.8351:0.0:0.1649|0.0:0.8351:0.0:0.1649	.|.	.|167	.|Q14012	.|KCC1A_HUMAN	H|N	14|167	.|ENSP00000256460:K167N	.|ENSP00000256460:K167N	D|K	-|-	1|3	0|2	CAMK1|CAMK1	9778370|9778370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.703000|1.703000	0.37846|0.37846	1.059000|1.059000	0.40554|0.40554	0.655000|0.655000	0.94253|0.94253	GAT|AAG	CAMK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.607	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1	HGNC	protein_coding	OTTHUMT00000250206.1	C	NM_003656		9803370	-1	no_errors	ENST00000256460	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9803370	C	G	9803370	3	3	185	1	0	0	0	0	1	0	0	0	2601	912	32	1	639	1	CAMK1	3	9803370	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2411	9803370	188219060	296	34571										
TMEM43	79188	genome.wustl.edu	37	chr3	14172355	14172355	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agacggcaacctcattggctGaggggctctcgcttgtggtg	15	10	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:14172355G>A	ENST00000306077.4	+	3	450	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	66					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CTCATTGGCTGAGGGGCTCTC	0.582																																																	0													92	81	85					3																	14172355		2203	4300	6503	SO:0001583	missense	79188			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.196G>A	3.37:g.14172355G>A	ENSP00000303992:p.Glu66Lys		Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	pfam_TMEM43_fam	p.E66K	ENST00000306077.4	37	c.196	CCDS2618.1	3	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808818	0.70797	.	.	ENSG00000170876	ENST00000306077	T	0.41758	0.99	5.17	5.17	0.71159	.	0.052605	0.64402	N	0.000001	T	0.62258	0.2413	M	0.87758	2.905	0.80722	D	1	D	0.63880	0.993	P	0.52672	0.706	T	0.69312	-0.5178	10	0.49607	T	0.09	-32.1559	17.4571	0.87610	0.0:0.0:1.0:0.0	.	66	Q9BTV4	TMM43_HUMAN	K	66	ENSP00000303992:E66K	ENSP00000303992:E66K	E	+	1	0	TMEM43	14147356	1.000000	0.71417	0.939000	0.37840	0.224000	0.24922	7.215000	0.77966	2.406000	0.81754	0.591000	0.81541	GAG	TMEM43	-	NULL		0.582	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM43	HGNC	protein_coding	OTTHUMT00000252030.2	G	NM_024334		14172355	1	no_errors	ENST00000306077	ensembl	human	known	70_37	missense	SNP	0.996	A	A	14172355	G	A	14172355	3	1	185	1	0	0	0	0	1	0	0	0	16197	1291	45	1	206	1	TMEM43	3	14172355	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4368985	14172355	183850075	297	34572										
C3orf20	84077	genome.wustl.edu	37	chr3	14746084	14746084	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaggcacccaagaaggccttCaagtttcattacaccttcta	6	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:14746084C>G	ENST00000253697.3	+	7	1571	c.1119C>G	c.(1117-1119)ttC>ttG	p.F373L	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.F251L|C3orf20_ENST00000435614.1_Missense_Mutation_p.F251L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	373						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGAAGGCCTTCAAGTTTCATT	0.502																																																	0													265	243	251					3																	14746084		2203	4300	6503	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1119C>G	3.37:g.14746084C>G	ENSP00000253697:p.Phe373Leu		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.F373L	ENST00000253697.3	37	c.1119	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	C	3.277	-0.147817	0.06627	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.10960	2.82;2.82;2.82	5.16	3.3	0.37823	.	1.519790	0.03895	N	0.279428	T	0.07638	0.0192	N	0.19112	0.55	0.24245	N	0.995346	B	0.02656	0.0	B	0.04013	0.001	T	0.39418	-0.9615	10	0.07990	T	0.79	-3.502	7.1837	0.25786	0.0:0.7807:0.0:0.2193	.	373	Q8ND61	CC020_HUMAN	L	373;251;251	ENSP00000253697:F373L;ENSP00000402933:F251L;ENSP00000396081:F251L	ENSP00000253697:F373L	F	+	3	2	C3orf20	14721088	0.273000	0.24181	0.555000	0.28281	0.006000	0.05464	0.314000	0.19432	0.510000	0.28216	-0.216000	0.12614	TTC	C3orf20	-	NULL		0.502	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	C	NM_032137		14746084	1	no_errors	ENST00000253697	ensembl	human	known	70_37	missense	SNP	0.822	G	G	14746084	C	G	14746084	3	3	185	1	0	0	0	0	1	0	0	0	2218	825	29	1	1137	1	C3orf20	3	14746084	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	573729	14746084	183276346	298	34573										
HACL1	26061	genome.wustl.edu	37	chr3	15633153	15633153	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accgcccaaggcatggatgaGacctgggccagaaacaacaa	11	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:15633153G>C	ENST00000321169.5	-	4	629	c.262C>G	c.(262-264)Ctc>Gtc	p.L88V	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.L88V|HACL1_ENST00000456194.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.L88V	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	88					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GCATGGATGAGACCTGGGCCA	0.383																																																	0													71	65	67					3																	15633153		2203	4300	6503	SO:0001583	missense	26061			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"2-hydroxyphytanoyl-CoA lyase"	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.262C>G	3.37:g.15633153G>C	ENSP00000323811:p.Leu88Val		B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth	p.L88V	ENST00000321169.5	37	c.262	CCDS2627.1	3	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581258	0.46006	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000457447	T;T;T	0.43688	1.52;1.53;0.94	5.65	5.65	0.86999	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.056130	0.64402	D	0.000001	T	0.47619	0.1455	N	0.17838	0.53	0.58432	D	0.999992	B;P;P	0.39551	0.206;0.529;0.678	P;P;P	0.54499	0.754;0.609;0.609	T	0.38156	-0.9674	10	0.38643	T	0.18	.	18.5568	0.91088	0.0:0.0:1.0:0.0	.	88;88;88	B4DXI5;E9PEN4;Q9UJ83	.;.;HACL1_HUMAN	V	88	ENSP00000323811:L88V;ENSP00000403656:L88V;ENSP00000404883:L88V	ENSP00000323811:L88V	L	-	1	0	HACL1	15608157	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.181000	0.58303	2.698000	0.92095	0.585000	0.79938	CTC	HACL1	-	pfam_Thiamin_PyroP_enz_TPP-bd_dom		0.383	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HACL1	HGNC	protein_coding	OTTHUMT00000252104.3	G	NM_012260		15633153	-1	no_errors	ENST00000321169	ensembl	human	known	70_37	missense	SNP	1.000	C	C	15633153	G	C	15633153	3	2	185	1	0	0	0	0	1	0	0	0	6961	942	33	1	1530	1	HACL1	3	15633153	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	887069	15633153	182389277	299	34574										
RARB	5915	genome.wustl.edu	37	chr3	25542705	25542705	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaagtattcagaagaatatGatttacacttgtcaccgaga	8	6	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:25542705G>C	ENST00000404969.1	+	3	360	c.360G>C	c.(358-360)atG>atC	p.M120I	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.M113I|RARB_ENST00000458646.1_Start_Codon_SNP_p.M1I|RARB_ENST00000437042.2_Start_Codon_SNP_p.M1I			P10826	RARB_HUMAN	retinoic acid receptor, beta	120					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAAGAATATGATTTACACTT	0.393																																																	0													108	110	109					3																	25542705		2203	4300	6503	SO:0001583	missense	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.360G>C	3.37:g.25542705G>C	ENSP00000385865:p.Met120Ile		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.M120I	ENST00000404969.1	37	c.360		3	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733329	0.69189	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.96967	-4.19;-4.19;-3.09;-4.19;-3.09	4.98	4.98	0.66077	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	N	0.25031	0.7	0.80722	D	1	P;P	0.45569	0.854;0.861	P;P	0.59012	0.85;0.794	D	0.97321	0.9944	10	0.87932	D	0	.	18.2626	0.90041	0.0:0.0:1.0:0.0	.	120;113	P10826;F1D8S6	RARB_HUMAN;.	I	120;120;120;1;113;1	ENSP00000373282:M120I;ENSP00000385865:M120I;ENSP00000398840:M1I;ENSP00000332296:M113I;ENSP00000391391:M1I	ENSP00000332296:M113I	M	+	3	0	RARB	25517709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.286000	0.76751	0.650000	0.86243	ATG	RARB	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.393	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		G	NM_000965, NM_016152		25542705	1	no_errors	ENST00000404969	ensembl	human	known	70_37	missense	SNP	1.000	C	C	25542705	G	C	25542705	3	2	185	1	0	0	0	0	1	0	0	0	13083	1290	45	1	349	1	RARB	3	25542705	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9909552	25542705	172479725	300	34575										
ZCWPW2	152098	genome.wustl.edu	37	chr3	28454782	28454782	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ataataactgctcaatttctGaagaagacttccctgaagag	7	8	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:28454782G>A	ENST00000383768.2	+	3	411	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E75K			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	75							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CTCAATTTCTGAAGAAGACTT	0.393																																																	0													124	121	122					3																	28454782		2203	4300	6503	SO:0001583	missense	152098			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.223G>A	3.37:g.28454782G>A	ENSP00000373278:p.Glu75Lys			Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.E75K	ENST00000383768.2	37	c.223	CCDS33723.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203802	0.79127	.	.	ENSG00000206559	ENST00000420223;ENST00000383768;ENST00000421010	T;T	0.42513	0.97;0.97	5.41	4.52	0.55395	Zinc finger, CW-type (2);	0.000000	0.64402	D	0.000017	T	0.68183	0.2973	M	0.88775	2.98	0.31671	N	0.644324	D	0.76494	0.999	D	0.87578	0.998	T	0.77308	-0.2636	10	0.87932	D	0	-16.9375	12.0985	0.53769	0.0:0.1733:0.8267:0.0	.	75	Q504Y3	ZCPW2_HUMAN	K	75	ENSP00000373278:E75K;ENSP00000412386:E75K	ENSP00000373278:E75K	E	+	1	0	ZCWPW2	28429786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.337000	0.65941	1.243000	0.43853	0.655000	0.94253	GAA	ZCWPW2	-	pfam_Znf_CW,pfscan_Znf_CW		0.393	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCWPW2	HGNC	protein_coding	OTTHUMT00000341318.1	G	XM_087384		28454782	1	no_errors	ENST00000383768	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28454782	G	A	28454782	3	1	185	1	0	0	0	0	1	0	0	0	17628	1291	45	1	225	1	ZCWPW2	3	28454782	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2912077	28454782	169567648	301	34576										
GLB1	2720	genome.wustl.edu	37	chr3	33059991	33059991	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actccattgaggggtgaagaGagaggtgctgggttgctgca	17	6	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:33059991G>C	ENST00000399402.3	-	13	1337	c.1206C>G	c.(1204-1206)ctC>ctG	p.L402L	GLB1_ENST00000307377.8_Silent_p.L301L|GLB1_ENST00000307363.5_Silent_p.L432L|GLB1_ENST00000445488.2_Silent_p.L480L|GLB1_ENST00000497796.1_5'UTR	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	432					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGGGTGAAGAGAGAGGTGCTG	0.468																																																	0													167	165	166					3																	33059991		1974	4162	6136	SO:0001819	synonymous_variant	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1206C>G	3.37:g.33059991G>C			B2R7H8|B7Z6B0|P16279	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.L480	ENST00000399402.3	37	c.1440	CCDS43062.1	3																																																																																			GLB1	-	NULL		0.468	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	G	NM_000404		33059991	-1	no_errors	ENST00000445488	ensembl	human	known	70_37	silent	SNP	0.984	C	C	33059991	G	C	33059991	2	2	185	1	0	0	0	0	0	0	0	1	6446	929	33	1		1	GLB1	3	33059991	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4605209	33059991	164962439	302	34577										
GOLGA4	2803	genome.wustl.edu	37	chr3	37366456	37366456	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gactggaaacaaaccaaaaaGaacaaatagaaagtcttact	6	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:37366456G>C	ENST00000361924.2	+	14	3453	c.3079G>C	c.(3079-3081)Gaa>Caa	p.E1027Q	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1049Q	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1027	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAACCAAAAAGAACAAATAGA	0.388																																																	0													59	60	60					3																	37366456		2202	4297	6499	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3079G>C	3.37:g.37366456G>C	ENSP00000354486:p.Glu1027Gln		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.E1027Q	ENST00000361924.2	37	c.3079	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577964	0.45902	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.33438	1.41;1.43;1.44	5.43	4.54	0.55810	.	0.218701	0.23310	N	0.049572	T	0.33760	0.0874	L	0.31752	0.955	0.43642	D	0.996041	D;P;P;B	0.60575	0.988;0.923;0.923;0.251	P;P;B;B	0.51806	0.68;0.548;0.397;0.065	T	0.04203	-1.0969	10	0.35671	T	0.21	.	15.8217	0.78654	0.0:0.1409:0.8591:0.0	.	1027;1027;1049;1027	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	Q	1027;1049;898	ENSP00000354486:E1027Q;ENSP00000349305:E1049Q;ENSP00000405842:E898Q	ENSP00000349305:E1049Q	E	+	1	0	GOLGA4	37341460	1.000000	0.71417	0.998000	0.56505	0.730000	0.41778	6.300000	0.72776	1.262000	0.44165	0.561000	0.74099	GAA	GOLGA4	-	NULL		0.388	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	G	NM_002078		37366456	1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37366456	G	C	37366456	3	2	185	1	0	0	0	0	1	0	0	0	6574	943	33	1	3203	1	GOLGA4	3	37366456	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4306465	37366456	160655974	303	34578										
DLEC1	9940	genome.wustl.edu	37	chr3	38103846	38103846	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taaggccaaagaaaggaccaGagaacctctcaaggtcagtt	10	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:38103846G>C	ENST00000308059.6	+	4	881	c.860G>C	c.(859-861)aGa>aCa	p.R287T	DLEC1_ENST00000346219.3_Missense_Mutation_p.R287T|DLEC1_ENST00000452631.2_Missense_Mutation_p.R287T					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAAGGACCAGAGAACCTCTC	0.498																																																	0													57	54	55					3																	38103846		1943	4155	6098	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.860G>C	3.37:g.38103846G>C	ENSP00000308597:p.Arg287Thr			Missense_Mutation	SNP	superfamily_PapD-like	p.R287T	ENST00000308059.6	37	c.860	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	1.933	-0.445414	0.04604	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04917	3.55;3.53;3.77	3.77	-7.54	0.01332	.	2.387780	0.01126	N	0.005885	T	0.03608	0.0103	N	0.17474	0.49	0.09310	N	1	B;B;B	0.11235	0.002;0.001;0.004	B;B;B	0.09377	0.004;0.003;0.004	T	0.36261	-0.9755	10	0.12103	T	0.63	0.0507	7.5868	0.27998	0.1809:0.3938:0.4253:0.0	.	287;287;287	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	287	ENSP00000308597:R287T;ENSP00000315914:R287T;ENSP00000410427:R287T	ENSP00000308597:R287T	R	+	2	0	DLEC1	38078850	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.289000	0.08365	-2.059000	0.00894	-0.176000	0.13171	AGA	DLEC1	-	NULL		0.498	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	G	NM_007337		38103846	1	no_errors	ENST00000346219	ensembl	human	known	70_37	missense	SNP	0.000	C	C	38103846	G	C	38103846	3	2	185	1	0	0	0	0	1	0	0	0	4562	942	33	1	874	1	DLEC1	3	38103846	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	737390	38103846	159918584	304	34579										
SLC22A13	9390	genome.wustl.edu	37	chr3	38307700	38307700	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atatgggctgggaatatcctGagaacaggctcccatccctg	11	11	0	1	rs531419747		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:38307700G>A	ENST00000311856.4	+	1	398	c.349G>A	c.(349-351)Gag>Aag	p.E117K	SLC22A13_ENST00000450935.2_Missense_Mutation_p.E76K	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	117					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGAATATCCTGAGAACAGGCT	0.582																																																	0													84	86	86					3																	38307700		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.349G>A	3.37:g.38307700G>A	ENSP00000310241:p.Glu117Lys		B2RCV9|Q8IYG1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E117K	ENST00000311856.4	37	c.349	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	.	14.84	2.655177	0.47467	.	.	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.63913	-0.07;0.85	4.81	2.87	0.33458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.283327	0.38436	N	0.001685	T	0.41789	0.1174	L	0.29908	0.895	0.09310	N	1	B;B	0.23185	0.081;0.04	B;B	0.24848	0.056;0.015	T	0.15350	-1.0440	10	0.11182	T	0.66	.	5.4438	0.16523	0.1656:0.0:0.5813:0.2531	.	117;117	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	K	117;76	ENSP00000310241:E117K;ENSP00000406929:E76K	ENSP00000310241:E117K	E	+	1	0	SLC22A13	38282704	0.278000	0.24230	0.614000	0.29051	0.874000	0.50279	0.742000	0.26216	1.188000	0.43014	0.558000	0.71614	GAG	SLC22A13	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.582	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	G	NM_004256		38307700	1	no_errors	ENST00000311856	ensembl	human	known	70_37	missense	SNP	0.015	A	A	38307700	G	A	38307700	3	1	185	1	0	0	0	0	1	0	0	0	14474	1291	45	1	351	1	SLC22A13	3	38307700	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	203854	38307700	159714730	305	34580										
SLC22A14	9389	genome.wustl.edu	37	chr3	38354944	38354944	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctgtaagaataggcagctCtgcaaggtgaccttggtgat	12	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:38354944C>G	ENST00000273173.4	+	6	1222	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	SLC22A14_ENST00000448498.1_Silent_p.L377L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	377					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATAGGCAGCTCTGCAAGGTGA	0.582																																																	0													118	106	110					3																	38354944		2203	4300	6503	SO:0001819	synonymous_variant	9389			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1131C>G	3.37:g.38354944C>G			A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L377	ENST00000273173.4	37	c.1131	CCDS2677.1	3																																																																																			SLC22A14	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.582	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3	C	NM_004803		38354944	1	no_errors	ENST00000273173	ensembl	human	known	70_37	silent	SNP	0.592	G	G	38354944	C	G	38354944	2	3	185	1	0	0	0	0	0	0	0	1	14475	900	32	1		1	SLC22A14	3	38354944	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	47244	38354944	159667486	306	34581										
TTC21A	199223	genome.wustl.edu	37	chr3	39171766	39171766	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggccctggaggtctatgatGaggcctatagacagaaccca	12	10	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:39171766G>A	ENST00000431162.2	+	17	2391	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	TTC21A_ENST00000440121.1_Missense_Mutation_p.E705K|TTC21A_ENST00000301819.6_Missense_Mutation_p.E754K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	753										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGTCTATGATGAGGCCTATAG	0.587																																																	0													46	47	47					3																	39171766		1935	4133	6068	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2257G>A	3.37:g.39171766G>A	ENSP00000398211:p.Glu753Lys		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E754K	ENST00000431162.2	37	c.2260	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635564	0.29068	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.58210	0.35;0.35;0.35	4.85	2.92	0.33932	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.287648	0.28125	N	0.016506	T	0.28433	0.0703	N	0.11673	0.155	0.27005	N	0.964816	B;P;P	0.43578	0.274;0.775;0.811	B;B;B	0.43838	0.112;0.306;0.433	T	0.31558	-0.9939	10	0.02654	T	1	-14.3503	8.1092	0.30905	0.0873:0.2777:0.635:0.0	.	705;754;753	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	K	754;736;753;705	ENSP00000301819:E754K;ENSP00000398211:E753K;ENSP00000410882:E705K	ENSP00000301819:E754K	E	+	1	0	TTC21A	39146770	0.869000	0.29996	0.664000	0.29753	0.141000	0.21300	1.467000	0.35321	1.188000	0.43014	-0.251000	0.11542	GAG	TTC21A	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.587	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	G	NM_145755		39171766	1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	0.561	A	A	39171766	G	A	39171766	3	1	185	1	0	0	0	0	1	0	0	0	16718	1291	45	1	2326	1	TTC21A	3	39171766	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	816822	39171766	158850664	307	34582										
NBEAL2	23218	genome.wustl.edu	37	chr3	47033349	47033349	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacgccatccccatgatgctGgcatgtgaagaccggccagt	12	13	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47033349G>T	ENST00000450053.3	+	9	1124	c.945G>T	c.(943-945)ctG>ctT	p.L315L	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.L315L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	315					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCATGATGCTGGCATGTGAAG	0.582																																																	0													43	43	43					3																	47033349		2064	4208	6272	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.945G>T	3.37:g.47033349G>T			O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L315	ENST00000450053.3	37	c.945	CCDS46817.1	3																																																																																			NBEAL2	-	superfamily_ARM-type_fold		0.582	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47033349	1	no_errors	ENST00000450053	ensembl	human	known	70_37	silent	SNP	0.999	T	T	47033349	G	T	47033349	2	4	185	1	0	0	0	0	0	0	0	1	10212	1335	47	4		4	NBEAL2	3	47033349	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7861583	47033349	150989081	308	34583										
KIF9	64147	genome.wustl.edu	37	chr3	47277039	47277039	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actttggcattgtagaaggaGatggaatcagggccctcagg	14	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47277039G>A	ENST00000265529.3	-	21	2966	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	KIF9_ENST00000335044.2_Silent_p.I762I|KIF9_ENST00000352910.4_3'UTR|KIF9_ENST00000452770.2_Silent_p.I762I|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Silent_p.I697I			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	762					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTAGAAGGAGATGGAATCAG	0.527																																					Colon(44;962 1147 15977 24541)												0													151	143	146					3																	47277039		2203	4300	6503	SO:0001819	synonymous_variant	64147			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.2286C>T	3.37:g.47277039G>A			Q86Z28|Q9H8A4	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I762	ENST00000265529.3	37	c.2286	CCDS2752.1	3																																																																																			KIF9	-	NULL		0.527	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	G			47277039	-1	no_errors	ENST00000265529	ensembl	human	known	70_37	silent	SNP	0.585	A	A	47277039	G	A	47277039	2	1	185	1	0	0	0	0	0	0	0	1	8330	932	33	1		1	KIF9	3	47277039	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	243690	47277039	150745391	309	34584										
PTPN23	25930	genome.wustl.edu	37	chr3	47447426	47447426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcatgaaggtctcctgtaccCatttccagtgcgcagccggc	11	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47447426C>T	ENST00000265562.4	+	6	513	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	PTPN23_ENST00000431726.1_Missense_Mutation_p.H20Y	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	146	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTGTACCCATTTCCAGTG	0.607																																																	0													66	59	61					3																	47447426		2203	4300	6503	SO:0001583	missense	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.436C>T	3.37:g.47447426C>T	ENSP00000265562:p.His146Tyr		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.H146Y	ENST00000265562.4	37	c.436	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963220	0.92791	.	.	ENSG00000076201	ENST00000265562	T	0.15487	2.42	5.14	4.27	0.50696	BRO1 domain (3);	0.101746	0.64402	D	0.000003	T	0.32793	0.0841	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04796	-1.0926	10	0.72032	D	0.01	-33.8075	12.6314	0.56659	0.0:0.9189:0.0:0.0811	.	146	Q9H3S7	PTN23_HUMAN	Y	146	ENSP00000265562:H146Y	ENSP00000265562:H146Y	H	+	1	0	PTPN23	47422430	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.603000	0.82811	1.401000	0.46761	0.655000	0.94253	CAT	PTPN23	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.607	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	C	NM_015466		47447426	1	no_errors	ENST00000265562	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47447426	C	T	47447426	3	4	185	1	0	0	0	0	1	0	0	0	12818	594	21	4	458	4	PTPN23	3	47447426	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	170387	47447426	150575004	310	34585										
SCAP	22937	genome.wustl.edu	37	chr3	47465422	47465422	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaactctcccactgcgttaCcttgggcgatccgcagcttc	8	17	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47465422C>G	ENST00000265565.5	-	9	1563		c.e9+1		SCAP_ENST00000545718.1_Splice_Site|SCAP_ENST00000441517.2_Splice_Site|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone						aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGTTACCTTGGGCGAT	0.557																																					Pancreas(149;978 1908 29304 37806 46700)												0													75	62	66					3																	47465422		2203	4300	6503	SO:0001630	splice_region_variant	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1150+1G>C	3.37:g.47465422C>G			Q8N2E0|Q8WUA1	Splice_Site	SNP	-	e8+1	ENST00000265565.5	37	c.1150+1	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876053	0.91664	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517;ENST00000383739	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1682	0.89736	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCAP	47440426	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.412000	0.80091	2.537000	0.85549	0.655000	0.94253	.	SCAP	-	-		0.557	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	C	NM_012235	Intron	47465422	-1	no_errors	ENST00000265565	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	47465422	C	G	47465422	5	3	185	1	0	0	0	0	0	0	1	0	13907	521	18	4	2748	4	SCAP	3	47465422	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	17996	47465422	150557008	311	34586										
DHX30	22907	genome.wustl.edu	37	chr3	47887268	47887268	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctctttgcgtgagctgggtGagacccagcgccgaccatgc	13	14	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:47887268G>A	ENST00000445061.1	+	10	1425	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	DHX30_ENST00000446256.2_Missense_Mutation_p.E301K|DHX30_ENST00000457607.1_Missense_Mutation_p.E368K|DHX30_ENST00000348968.4_Missense_Mutation_p.E312K	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	340						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGAGCTGGGTGAGACCCAGCG	0.597																																																	0													112	97	102					3																	47887268		2203	4300	6503	SO:0001583	missense	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1018G>A	3.37:g.47887268G>A	ENSP00000405620:p.Glu340Lys		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E340K	ENST00000445061.1	37	c.1018	CCDS2759.1	3	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684778	0.88639	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03358	3.99;3.98;3.98;3.96	5.38	5.38	0.77491	.	0.053888	0.64402	D	0.000001	T	0.05914	0.0154	L	0.46157	1.445	0.58432	D	0.999999	B;B	0.33238	0.139;0.403	B;B	0.30782	0.056;0.12	T	0.30707	-0.9969	10	0.56958	D	0.05	.	18.1238	0.89580	0.0:0.0:1.0:0.0	.	340;301	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	K	301;340;312;368	ENSP00000392601:E301K;ENSP00000405620:E340K;ENSP00000343442:E312K;ENSP00000394682:E368K	ENSP00000343442:E312K	E	+	1	0	DHX30	47862272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.527000	0.85204	0.655000	0.94253	GAG	DHX30	-	NULL		0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	G	NM_138615		47887268	1	no_errors	ENST00000445061	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47887268	G	A	47887268	3	1	185	1	0	0	0	0	1	0	0	0	4514	1291	45	1	1059	1	DHX30	3	47887268	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	421846	47887268	150135162	312	34587										
ATRIP	84126	genome.wustl.edu	37	chr3	48488421	48488421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgcatggggacttcactgccGacgacctggaggagcttgac	14	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:48488421G>A	ENST00000320211.3	+	1	285	c.172G>A	c.(172-174)Gac>Aac	p.D58N	RP11-24C3.2_ENST00000435578.1_RNA|ATRIP_ENST00000357105.6_Intron|ATRIP_ENST00000412052.1_5'Flank|RP11-24C3.2_ENST00000438872.1_RNA|ATRIP_ENST00000346691.4_Missense_Mutation_p.D58N	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	58					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCACTGCCGACGACCTGGA	0.721								Other conserved DNA damage response genes																																									0													18	20	19					3																	48488421		2183	4262	6445	SO:0001583	missense	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.172G>A	3.37:g.48488421G>A	ENSP00000323099:p.Asp58Asn		A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.D58N	ENST00000320211.3	37	c.172	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.122748	0.97300	.	.	ENSG00000164053	ENST00000320211;ENST00000346691	T;T	0.45668	0.93;0.89	5.42	5.42	0.78866	.	0.136987	0.64402	D	0.000005	T	0.62258	0.2413	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63341	-0.6659	10	0.72032	D	0.01	-19.3988	17.0904	0.86620	0.0:0.0:1.0:0.0	.	58;58	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	N	58	ENSP00000323099:D58N;ENSP00000302338:D58N	ENSP00000323099:D58N	D	+	1	0	ATRIP	48463425	1.000000	0.71417	0.962000	0.40283	0.986000	0.74619	5.061000	0.64319	2.712000	0.92718	0.655000	0.94253	GAC	ATRIP	-	NULL		0.721	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	G	NM_130384		48488421	1	no_errors	ENST00000320211	ensembl	human	known	70_37	missense	SNP	0.995	A	A	48488421	G	A	48488421	3	1	185	1	0	0	0	0	1	0	0	0	1206	1058	37	1	174	1	ATRIP	3	48488421	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	601153	48488421	149534009	313	34588										
CELSR3	1951	genome.wustl.edu	37	chr3	48680447	48680447	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggcgctgccttcctgcccaGacaggctggcatccaggcag	13	15	0	1	rs142990854		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:48680447G>C	ENST00000164024.4	-	29	8639	c.8359C>G	c.(8359-8361)Ctg>Gtg	p.L2787V	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2792V|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2787					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCCTGCCCAGACAGGCTGGC	0.632																																																	0								G	VAL/LEU	0,4406		0,0,2203	36	39	38		8359	5.7	1	3	dbSNP_134	38	1,8585	1.2+/-3.3	0,1,4292	no	missense	CELSR3	NM_001407.2	32	0,1,6495	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	2787/3313	48680447	1,12991	2203	4293	6496	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8359C>G	3.37:g.48680447G>C	ENSP00000164024:p.Leu2787Val		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L2792V	ENST00000164024.4	37	c.8374	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872049	0.72180	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.38401	1.14;1.14	5.67	5.67	0.87782	.	.	.	.	.	T	0.56920	0.2018	M	0.63428	1.95	0.49798	D	0.999824	D;D;D	0.69078	0.996;0.993;0.997	D;P;D	0.78314	0.928;0.849;0.991	T	0.45891	-0.9230	9	0.21540	T	0.41	.	17.9412	0.89027	0.0:0.0:1.0:0.0	.	2792;2787;2885	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	V	2787;2792	ENSP00000164024:L2787V;ENSP00000445694:L2792V	ENSP00000164024:L2787V	L	-	1	2	CELSR3	48655451	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.038000	0.64177	2.686000	0.91538	0.561000	0.74099	CTG	CELSR3	-	NULL		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	G	NM_001407		48680447	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48680447	G	C	48680447	3	2	185	1	0	0	0	0	1	0	0	0	3228	933	33	1	1607	1	CELSR3	3	48680447	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	192026	48680447	149341983	314	34589										
ARIH2	10425	genome.wustl.edu	37	chr3	49017054	49017054	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccctcaagaagtacttattCtactttgagagggtaggtgt	11	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49017054C>T	ENST00000356401.4	+	12	1440	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	RP13-131K19.1_ENST00000429681.1_RNA|ARIH2_ENST00000449376.1_Silent_p.F367F|RP13-131K19.1_ENST00000415982.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	367					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		AGTACTTATTCTACTTTGAGA	0.527																																																	0													122	98	106					3																	49017054		2203	4300	6503	SO:0001819	synonymous_variant	10425			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.1101C>T	3.37:g.49017054C>T			Q9HBZ6|Q9UEM9	Silent	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.F367	ENST00000356401.4	37	c.1101	CCDS2780.1	3																																																																																			ARIH2	-	NULL		0.527	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	C	NM_006321		49017054	1	no_errors	ENST00000356401	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49017054	C	T	49017054	2	4	185	1	0	0	0	0	0	0	0	1	924	912	32	1		1	ARIH2	3	49017054	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	336607	49017054	149005376	315	34590										
IMPDH2	25915	genome.wustl.edu	37	chr3	49061967	49061967	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caccttccacctgggctgagGacgttctcttctcaaactta	7	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49061967G>A	ENST00000326925.6	+	0	2012				DALRD3_ENST00000496568.1_5'Flank|IMPDH2_ENST00000326739.4_Missense_Mutation_p.S495F	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CTGGGCTGAGGACGTTCTCTT	0.572																																																	0													127	116	119					3																	49061967		2203	4300	6503	SO:0001628	intergenic_variant	3615				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49061967G>A				Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_Cysta_beta_synth_core,pirsf_IMP_DH,tigrfam_IMP_DH	p.S495F	ENST00000326925.6	37	c.1484	CCDS2784.1	3	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127760	0.20959	.	.	ENSG00000178035	ENST00000326739	T	0.79454	-1.27	5.68	5.68	0.88126	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.230275	0.42548	D	0.000689	T	0.77850	0.4192	M	0.76328	2.33	0.40504	D	0.980671	B	0.15473	0.013	B	0.28784	0.094	T	0.76269	-0.3021	10	0.66056	D	0.02	-19.6144	10.261	0.43427	0.1467:0.0:0.8533:0.0	.	495	P12268	IMDH2_HUMAN	F	495	ENSP00000321584:S495F	ENSP00000321584:S495F	S	-	2	0	IMPDH2	49036971	0.576000	0.26700	1.000000	0.80357	0.982000	0.71751	2.081000	0.41596	2.670000	0.90874	0.655000	0.94253	TCC	IMPDH2	-	pfam_IMP_DH_GMPRt,pirsf_IMP_DH		0.572	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPDH2	HGNC	protein_coding	OTTHUMT00000345683.2	G	NM_199069		49061967	-1	no_errors	ENST00000326739	ensembl	human	known	70_37	missense	SNP	0.999	A	A	49061967	G	A	49061967	1	1	185	0	1	0	0	0	0	0	0	0	7747	1174	41	1		1	IMPDH2	3	49061967	IGR	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	44913	49061967	148960463	316	34591										
QARS	5859	genome.wustl.edu	37	chr3	49137068	49137068	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtgcattgcaaagccagaaGtaggaagagcgtctggggtg	16	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49137068G>T	ENST00000306125.6	-	16	1738	c.1401C>A	c.(1399-1401)taC>taA	p.Y467*	QARS_ENST00000414533.1_Nonsense_Mutation_p.Y456*|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	467					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AAAGCCAGAAGTAGGAAGAGC	0.567																																																	0													64	65	65					3																	49137068		2203	4300	6503	SO:0001587	stop_gained	5859			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1401C>A	3.37:g.49137068G>T	ENSP00000307567:p.Tyr467*		B4DWJ2	Nonsense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.Y467*	ENST00000306125.6	37	c.1401	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.033730	0.98017	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	.	.	.	5.86	4.07	0.47477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2385	11.3864	0.49787	0.2588:0.0:0.7412:0.0	.	.	.	.	X	467;456	.	ENSP00000307567:Y467X	Y	-	3	2	QARS	49112072	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.714000	0.37961	0.410000	0.25675	-0.797000	0.03246	TAC	QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth_Ib		0.567	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	G	NM_005051		49137068	-1	no_errors	ENST00000306125	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	49137068	G	T	49137068	4	4	185	1	0	0	0	0	0	1	0	0	12901	1024	36	4	962	4	QARS	3	49137068	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	75101	49137068	148885362	317	34592										
USP19	10869	genome.wustl.edu	37	chr3	49147778	49147778	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taccgttgtcactgtgctgtCatcaaacaagcgccagccta	8	13	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49147778C>T	ENST00000398888.2	-	25	3886	c.3568G>A	c.(3568-3570)Gac>Aac	p.D1190N	USP19_ENST00000453664.1_Missense_Mutation_p.D1281N|USP19_ENST00000417901.1_Missense_Mutation_p.D1293N|USP19_ENST00000398892.3_Missense_Mutation_p.D1230N|USP19_ENST00000398898.2_Missense_Mutation_p.D1230N|USP19_ENST00000434032.2_Missense_Mutation_p.D1291N|USP19_ENST00000398896.1_Missense_Mutation_p.D998N	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1190	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGTGCTGTCATCAAACAAG	0.587																																																	0													54	60	58					3																	49147778		2162	4260	6422	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3568G>A	3.37:g.49147778C>T	ENSP00000381863:p.Asp1190Asn		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.D1190N	ENST00000398888.2	37	c.3568	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951761	0.92660	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.93976	0.8071	H	0.97214	3.96	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.997;1.0	D	0.95612	0.8673	10	0.87932	D	0	-25.3709	19.7629	0.96329	0.0:1.0:0.0:0.0	.	1291;1281;1190;1230;998	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	N	998;1230;1293;1281;1230;1190;1291	ENSP00000381870:D998N;ENSP00000381872:D1230N;ENSP00000395260:D1293N;ENSP00000400090:D1281N;ENSP00000381867:D1230N;ENSP00000381863:D1190N;ENSP00000401197:D1291N	ENSP00000381863:D1190N	D	-	1	0	USP19	49122782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.666000	0.90696	0.561000	0.74099	GAC	USP19	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.587	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677		49147778	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49147778	C	T	49147778	3	4	185	1	0	0	0	0	1	0	0	0	17081	826	29	1	396	1	USP19	3	49147778	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10710	49147778	148874652	318	34593										
USP4	7375	genome.wustl.edu	37	chr3	49349008	49349008	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctatcaccatttgcaatgaGagaggcagacactgaggaat	11	8	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49349008G>C	ENST00000265560.4	-	7	821	c.775C>G	c.(775-777)Ctc>Gtc	p.L259V	USP4_ENST00000351842.4_Intron|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	259					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L259V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTTGCAATGAGAGAGGCAGAC	0.507																																																	1	Substitution - Missense(1)	cervix(1)											134	125	128					3																	49349008		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.775C>G	3.37:g.49349008G>C	ENSP00000265560:p.Leu259Val		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.L259V	ENST00000265560.4	37	c.775	CCDS2793.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.211|8.211	0.800383|0.800383	0.16397|0.16397	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000265560|ENST00000431357	T|T	0.19105|0.25250	2.17|1.81	5.39|5.39	4.52|4.52	0.55395|0.55395	.|.	0.552916|.	0.19648|.	N|.	0.109295|.	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.10177|0.10177	-1.0641|-1.0641	10|7	0.11485|0.72032	T|D	0.65|0.01	-3.7361|-3.7361	5.3812|5.3812	0.16192|0.16192	0.1668:0.0:0.6712:0.162|0.1668:0.0:0.6712:0.162	.|.	259|.	Q13107|.	UBP4_HUMAN|.	V|C	259|15	ENSP00000265560:L259V|ENSP00000399079:S15C	ENSP00000265560:L259V|ENSP00000399079:S15C	L|S	-|-	1|2	0|0	USP4|USP4	49324012|49324012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.465000|2.465000	0.45075|0.45075	1.272000|1.272000	0.44329|0.44329	0.462000|0.462000	0.41574|0.41574	CTC|TCT	USP4	-	NULL		0.507	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	G	NM_199443		49349008	-1	no_errors	ENST00000265560	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49349008	G	C	49349008	3	2	185	1	0	0	0	0	1	0	0	0	17102	942	33	1	2180	1	USP4	3	49349008	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	201230	49349008	148673422	319	34594										
RHOA	387	genome.wustl.edu	37	chr3	49397643	49397643	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgtgcttgcagcaaggtttCacaagacaaggcacccagat	10	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49397643C>T	ENST00000418115.1	-	5	965	c.581G>A	c.(580-582)tGa>tAa	p.*194*	GPX1_ENST00000419349.1_5'Flank|RHOA_ENST00000422781.1_3'UTR|GPX1_ENST00000496791.1_5'Flank|RHOA_ENST00000454011.2_3'UTR|GPX1_ENST00000419783.1_5'Flank	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	0					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGCAAGGTTTCACAAGACAAG	0.403																																																	0													312	271	285					3																	49397643		2203	4300	6503	SO:0001819	synonymous_variant	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.581G>A	3.37:g.49397643C>T			P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.*194	ENST00000418115.1	37	c.581	CCDS2795.1	3																																																																																			RHOA	-	NULL		0.403	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	C	NM_001664		49397643	-1	no_errors	ENST00000418115	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49397643	C	T	49397643	2	4	185	1	0	0	0	0	0	0	0	1	13361	837	29	1		1	RHOA	3	49397643	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	48635	49397643	148624787	320	34595										
RHOA	387	genome.wustl.edu	37	chr3	49397710	49397710	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcagctctcgtagccatttCaaaaacctctctcactccat	4	15	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49397710C>G	ENST00000418115.1	-	5	898	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q	GPX1_ENST00000419349.1_5'Flank|RHOA_ENST00000422781.1_3'UTR|GPX1_ENST00000496791.1_5'Flank|RHOA_ENST00000454011.2_3'UTR|GPX1_ENST00000419783.1_5'Flank	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	172					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTAGCCATTTCAAAAACCTCT	0.483																																																	0													350	288	309					3																	49397710		2203	4300	6503	SO:0001583	missense	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.514G>C	3.37:g.49397710C>G	ENSP00000400175:p.Glu172Gln		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E172Q	ENST00000418115.1	37	c.514	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623170	0.87460	.	.	ENSG00000067560	ENST00000418115	T	0.71103	-0.54	6.03	6.03	0.97812	.	0.049449	0.85682	D	0.000000	T	0.75250	0.3824	N	0.17248	0.465	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.77574	-0.2537	10	0.59425	D	0.04	.	19.1349	0.93424	0.0:1.0:0.0:0.0	.	172	P61586	RHOA_HUMAN	Q	172	ENSP00000400175:E172Q	ENSP00000400175:E172Q	E	-	1	0	RHOA	49372714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	GAA	RHOA	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase		0.483	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	C	NM_001664		49397710	-1	no_errors	ENST00000418115	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49397710	C	G	49397710	3	3	185	1	0	0	0	0	1	0	0	0	13361	835	29	1	71	1	RHOA	3	49397710	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	67	49397710	148624720	321	34596										
BSN	8927	genome.wustl.edu	37	chr3	49689465	49689465	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgagggtggcctgtcccctCttccaccccagcccccagcc	10	20	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49689465C>A	ENST00000296452.4	+	5	2590	c.2476C>A	c.(2476-2478)Ctt>Att	p.L826I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	826					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTGTCCCCTCTTCCACCCCA	0.607																																																	0													47	54	51					3																	49689465		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2476C>A	3.37:g.49689465C>A	ENSP00000296452:p.Leu826Ile		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.L826I	ENST00000296452.4	37	c.2476	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	c	7.088	0.571494	0.13623	.	.	ENSG00000164061	ENST00000296452	T	0.19250	2.16	5.01	3.11	0.35812	.	0.274697	0.29066	N	0.013253	T	0.16257	0.0391	L	0.40543	1.245	0.09310	N	1	B	0.21821	0.061	B	0.25291	0.059	T	0.19712	-1.0297	10	0.37606	T	0.19	.	7.0769	0.25209	0.0:0.3607:0.486:0.1534	.	826	Q9UPA5	BSN_HUMAN	I	826	ENSP00000296452:L826I	ENSP00000296452:L826I	L	+	1	0	BSN	49664469	0.003000	0.15002	0.463000	0.27130	0.983000	0.72400	0.146000	0.16180	0.434000	0.26340	0.556000	0.70494	CTT	BSN	-	NULL		0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49689465	1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.095	A	A	49689465	C	A	49689465	3	1	185	1	0	0	0	0	1	0	0	0	1533	913	32	3	2494	3	BSN	3	49689465	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	291755	49689465	148332965	322	34597										
UBA7	7318	genome.wustl.edu	37	chr3	49848801	49848801	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gactgtccgcactagggcctCatccagtggctcttccagtg	11	14	2	0	rs372779063		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:49848801C>A	ENST00000333486.3	-	9	1185	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	343	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACTAGGGCCTCAtccagtggc	0.612																																																	0													138	107	117					3																	49848801		2203	4300	6503	SO:0001587	stop_gained	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1027G>T	3.37:g.49848801C>A	ENSP00000333266:p.Glu343*		Q9BRB2	Nonsense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.E343*	ENST00000333486.3	37	c.1027	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.510187	0.96386	.	.	ENSG00000182179	ENST00000333486	.	.	.	5.76	3.94	0.45596	.	0.049025	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-13.1977	8.764	0.34692	0.1483:0.776:0.0:0.0757	.	.	.	.	X	343	.	ENSP00000333266:E343X	E	-	1	0	UBA7	49823805	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.538000	0.53597	0.760000	0.33108	0.462000	0.41574	GAG	UBA7	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.612	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	C	NM_003335		49848801	-1	no_errors	ENST00000333486	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49848801	C	A	49848801	4	1	185	1	0	0	0	0	0	1	0	0	16864	835	29	3	2075	3	UBA7	3	49848801	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	159336	49848801	148173629	323	34598										
IFRD2	7866	genome.wustl.edu	37	chr3	50326103	50326103	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgtccatgtagagcacctCaaagccgaagcgcactatct	9	13	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:50326103C>G	ENST00000429673.2	-	10	1254	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	IFRD2_ENST00000336089.4_Missense_Mutation_p.E521Q|IFRD2_ENST00000417626.2_Missense_Mutation_p.E355Q|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_Missense_Mutation_p.E355Q			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	419						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TAGAGCACCTCAAAGCCGAAG	0.617																																																	0													69	74	72					3																	50326103		2132	4239	6371	SO:0001583	missense	7866			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1255G>C	3.37:g.50326103C>G	ENSP00000398971:p.Glu419Gln		Q9BVB4|Q9UJ88	Missense_Mutation	SNP	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.E521Q	ENST00000429673.2	37	c.1561	CCDS46831.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012709	0.93346	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.53206	0.67;0.67;0.64;0.63	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.73534	-0.3952	10	0.66056	D	0.02	-20.3608	17.5464	0.87863	0.0:1.0:0.0:0.0	.	419;521	Q12894;Q9UJ88	IFRD2_HUMAN;.	Q	355;355;521;419	ENSP00000402849:E355Q;ENSP00000392316:E355Q;ENSP00000336936:E521Q;ENSP00000398971:E419Q	ENSP00000336936:E521Q	E	-	1	0	IFRD2	50301107	1.000000	0.71417	0.965000	0.40720	0.980000	0.70556	7.233000	0.78125	2.826000	0.97356	0.655000	0.94253	GAG	IFRD2	-	NULL		0.617	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding		C	NM_006764		50326103	-1	no_errors	ENST00000336089	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50326103	C	G	50326103	3	3	185	1	0	0	0	0	1	0	0	0	7574	835	29	1	277	1	IFRD2	3	50326103	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	477302	50326103	147696327	324	34599										
ZMYND10	51364	genome.wustl.edu	37	chr3	50380767	50380767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttgctgtcctgggatccctCcccctcaggggggccaccac	12	17	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:50380767C>T	ENST00000231749.3	-	5	1753	c.481G>A	c.(481-483)Gag>Aag	p.E161K	ZMYND10_ENST00000360165.3_Missense_Mutation_p.E161K|RASSF1_ENST00000488024.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	161					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGATCCCTCCCCCTCAGGG	0.607										TSP Lung(30;0.18)																																							0													58	61	60					3																	50380767		2203	4300	6503	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.481G>A	3.37:g.50380767C>T	ENSP00000231749:p.Glu161Lys		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.E161K	ENST00000231749.3	37	c.481	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	C	7.501	0.652677	0.14580	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	T;T;T	0.31247	1.5;1.5;1.5	5.34	3.54	0.40534	.	0.623468	0.17440	N	0.174172	T	0.18676	0.0448	L	0.28274	0.84	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.002	T	0.12837	-1.0532	10	0.31617	T	0.26	-8.7836	5.5432	0.17049	0.0:0.596:0.2216:0.1824	.	161;161	O75800-2;O75800	.;ZMY10_HUMAN	K	161;161;118	ENSP00000231749:E161K;ENSP00000353289:E161K;ENSP00000393687:E118K	ENSP00000231749:E161K	E	-	1	0	ZMYND10	50355771	0.000000	0.05858	0.179000	0.23059	0.102000	0.19082	0.539000	0.23175	1.267000	0.44247	0.561000	0.74099	GAG	ZMYND10	-	pirsf_UCP037948_Znf-MYND		0.607	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	C	NM_015896		50380767	-1	no_errors	ENST00000231749	ensembl	human	known	70_37	missense	SNP	0.001	T	T	50380767	C	T	50380767	3	4	185	1	0	0	0	0	1	0	0	0	17735	864	30	1	873	1	ZMYND10	3	50380767	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	54664	50380767	147641663	325	34600										
STAB1	23166	genome.wustl.edu	37	chr3	52552829	52552829	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcggagcgaggacctgctgGagcaggggtacgccacggcc	18	12	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:52552829G>C	ENST00000321725.6	+	48	5054	c.4978G>C	c.(4978-4980)Gag>Cag	p.E1660Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1660	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGACCTGCTGGAGCAGGGGTA	0.706																																																	0													25	29	27					3																	52552829		2200	4299	6499	SO:0001583	missense	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4978G>C	3.37:g.52552829G>C	ENSP00000312946:p.Glu1660Gln		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.E1660Q	ENST00000321725.6	37	c.4978	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	5.858	0.342446	0.11069	.	.	ENSG00000010327	ENST00000321725	D	0.91631	-2.88	5.25	4.38	0.52667	FAS1 domain (5);	0.723040	0.13497	N	0.383538	D	0.83986	0.5373	N	0.17278	0.47	0.18873	N	0.999981	P	0.44877	0.845	B	0.42959	0.403	T	0.72743	-0.4201	10	0.13853	T	0.58	.	8.0467	0.30553	0.0804:0.0:0.7625:0.157	.	1660	Q9NY15	STAB1_HUMAN	Q	1660	ENSP00000312946:E1660Q	ENSP00000312946:E1660Q	E	+	1	0	STAB1	52527869	0.110000	0.22057	0.804000	0.32291	0.016000	0.09150	0.300000	0.19156	1.207000	0.43291	0.650000	0.86243	GAG	STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.706	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136		52552829	1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.605	C	C	52552829	G	C	52552829	3	2	185	1	0	0	0	0	1	0	0	0	15267	1175	41	1	5168	1	STAB1	3	52552829	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2172062	52552829	145469601	326	34601										
SFMBT1	51460	genome.wustl.edu	37	chr3	52988418	52988418	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attctacctcttccataccaGagccggcatctagaattaaa	5	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:52988418G>A	ENST00000394752.3	-	3	420	c.38C>T	c.(37-39)tCt>tTt	p.S13F	SFMBT1_ENST00000470575.1_5'UTR|SFMBT1_ENST00000296295.6_Missense_Mutation_p.S13F|SFMBT1_ENST00000358080.2_Missense_Mutation_p.S13F|SFMBT1_ENST00000394750.1_Missense_Mutation_p.S13F	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	13					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTCCATACCAGAGCCGGCATC	0.333																																																	0													104	109	107					3																	52988418		2203	4300	6503	SO:0001583	missense	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.38C>T	3.37:g.52988418G>A	ENSP00000378235:p.Ser13Phe		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.S13F	ENST00000394752.3	37	c.38	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932708	0.34096	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750;ENST00000482396;ENST00000483069;ENST00000497586	T;T;T;T;T;T	0.46819	2.41;2.41;2.39;2.41;1.88;0.86	5.7	5.7	0.88788	.	0.129946	0.53938	D	0.000052	T	0.41050	0.1142	L	0.39147	1.195	0.53005	D	0.999968	B	0.31879	0.344	B	0.32624	0.149	T	0.35525	-0.9785	10	0.56958	D	0.05	.	12.7438	0.57268	0.0759:0.0:0.9241:0.0	.	13	Q9UHJ3	SMBT1_HUMAN	F	13	ENSP00000378235:S13F;ENSP00000350789:S13F;ENSP00000296295:S13F;ENSP00000378233:S13F;ENSP00000418860:S13F;ENSP00000418950:S13F	ENSP00000296295:S13F	S	-	2	0	SFMBT1	52963458	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.297000	0.59061	2.680000	0.91292	0.585000	0.79938	TCT	SFMBT1	-	NULL		0.333	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	G	NM_016329		52988418	-1	no_errors	ENST00000358080	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52988418	G	A	52988418	3	1	185	1	0	0	0	0	1	0	0	0	14187	942	33	1	2638	1	SFMBT1	3	52988418	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	435589	52988418	145034012	327	34602										
RFT1	91869	genome.wustl.edu	37	chr3	53133448	53133448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgtgaaacactctgtcactCcattgatggcaagcaggaga	10	9	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:53133448C>A	ENST00000296292.3	-	11	1218	c.1157G>T	c.(1156-1158)gGa>gTa	p.G386V	RFT1_ENST00000394738.3_Missense_Mutation_p.G347V|RP11-894J14.5_ENST00000607203.1_Nonsense_Mutation_p.E8*	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	386					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTCTGTCACTCCATTGATGGC	0.488																																																	0													154	127	136					3																	53133448		2203	4300	6503	SO:0001583	missense	91869			AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"congenital disorder of glycosylation 1N"	611908	"RFT1, requiring fifty three 1 homolog (S. cerevisiae)"			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.1157G>T	3.37:g.53133448C>A	ENSP00000296292:p.Gly386Val		Q96J03	Missense_Mutation	SNP	pfam_RFT1	p.G386V	ENST00000296292.3	37	c.1157	CCDS2869.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995213	0.93167	.	.	ENSG00000163933	ENST00000296292;ENST00000394738	D;D	0.96365	-3.99;-3.99	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.98623	0.9539	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99494	1.0951	10	0.87932	D	0	.	18.5767	0.91157	0.0:1.0:0.0:0.0	.	347;386	B5MDE0;Q96AA3	.;RFT1_HUMAN	V	386;347	ENSP00000296292:G386V;ENSP00000378223:G347V	ENSP00000296292:G386V	G	-	2	0	RFT1	53108488	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.763000	0.85283	2.688000	0.91661	0.561000	0.74099	GGA	RFT1	-	pfam_RFT1		0.488	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFT1	HGNC	protein_coding	OTTHUMT00000157136.2	C	NM_052859		53133448	-1	no_errors	ENST00000296292	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53133448	C	A	53133448	3	1	185	1	0	0	0	0	1	0	0	0	13287	855	30	3	480	3	RFT1	3	53133448	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	145030	53133448	144888982	328	34603										
ACTR8	93973	genome.wustl.edu	37	chr3	53911703	53911703	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tactaaatactcagggtgatGagatgtgtttgtccacttat	9	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:53911703G>A	ENST00000335754.3	-	4	581	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	ACTR8_ENST00000482349.1_Missense_Mutation_p.H50Y|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	161					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCAGGGTGATGAGATGTGTTT	0.393																																																	0													105	98	100					3																	53911703		2203	4300	6503	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.481C>T	3.37:g.53911703G>A	ENSP00000336842:p.His161Tyr		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.H161Y	ENST00000335754.3	37	c.481	CCDS2875.1	3	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964650	0.53507	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	T;T	0.40756	1.02;1.02	5.88	5.88	0.94601	.	0.095702	0.64402	D	0.000001	T	0.42539	0.1207	L	0.54323	1.7	0.80722	D	1	P	0.41546	0.754	B	0.40864	0.342	T	0.35500	-0.9786	10	0.52906	T	0.07	0.0173	14.2635	0.66099	0.0:0.0:0.8424:0.1576	.	161	Q9H981	ARP8_HUMAN	Y	161;50;50	ENSP00000336842:H161Y;ENSP00000419429:H50Y	ENSP00000336842:H161Y	H	-	1	0	ACTR8	53886743	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.914000	0.69964	2.779000	0.95612	0.650000	0.86243	CAT	ACTR8	-	pfam_Actin-like,smart_Actin-like		0.393	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	G	NM_022899		53911703	-1	no_errors	ENST00000335754	ensembl	human	known	70_37	missense	SNP	1.000	A	A	53911703	G	A	53911703	3	1	185	1	0	0	0	0	1	0	0	0	217	1290	45	1	1433	1	ACTR8	3	53911703	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	778255	53911703	144110727	329	34604										
CCDC66	285331	genome.wustl.edu	37	chr3	56597937	56597937	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actgtcttcatatccagaaaGagatttcacctgcaacccct	5	13	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:56597937G>C	ENST00000394672.3	+	4	398	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	CCDC66_ENST00000538560.1_Missense_Mutation_p.E110Q|CCDC66_ENST00000436465.2_Missense_Mutation_p.E110Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.E76Q|CCDC66_ENST00000442522.2_3'UTR	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	110					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TATCCAGAAAGAGATTTCACC	0.358																																																	0													61	56	58					3																	56597937		2203	4300	6503	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.328G>C	3.37:g.56597937G>C	ENSP00000378167:p.Glu110Gln		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	NULL	p.E110Q	ENST00000394672.3	37	c.328	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	G	6.274	0.418751	0.11870	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29	5.75	3.64	0.41730	.	.	.	.	.	T	0.04770	0.0129	L	0.51422	1.61	0.09310	N	1	B;B	0.30973	0.145;0.302	B;B	0.34779	0.146;0.189	T	0.28073	-1.0055	9	0.56958	D	0.05	-2.5462	10.6906	0.45869	0.1756:0.0:0.8244:0.0	.	110;110	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	Q	110;110;76;110;110	ENSP00000401451:E110Q;ENSP00000378167:E110Q;ENSP00000326050:E76Q;ENSP00000404320:E110Q;ENSP00000444919:E110Q	ENSP00000326050:E76Q	E	+	1	0	CCDC66	56572977	0.430000	0.25538	0.004000	0.12327	0.039000	0.13416	1.651000	0.37302	1.419000	0.47118	0.655000	0.94253	GAG	CCDC66	-	NULL		0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1	G	NM_001012506		56597937	1	no_errors	ENST00000394672	ensembl	human	known	70_37	missense	SNP	0.005	C	C	56597937	G	C	56597937	3	2	185	1	0	0	0	0	1	0	0	0	2843	943	33	1	342	1	CCDC66	3	56597937	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2686234	56597937	141424493	330	34605										
CCDC66	285331	genome.wustl.edu	37	chr3	56653391	56653391	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaaaacagtagctatgagaGagagaatttgatctcaggaa	10	4	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:56653391G>C	ENST00000394672.3	+	16	2541	c.2471G>C	c.(2470-2472)aGa>aCa	p.R824T	CCDC66_ENST00000326595.7_Missense_Mutation_p.R790T|CCDC66_ENST00000436465.2_Missense_Mutation_p.R824T	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	824					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGCTATGAGAGAGAGAATTTG	0.338																																																	0													82	90	88					3																	56653391		2203	4299	6502	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2471G>C	3.37:g.56653391G>C	ENSP00000378167:p.Arg824Thr		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	NULL	p.R824T	ENST00000394672.3	37	c.2471	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834404	0.32421	.	.	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	T;T;T	0.24350	1.86;1.86;1.86	4.9	-1.42	0.08913	.	0.732309	0.13331	N	0.395887	T	0.17365	0.0417	L	0.60455	1.87	0.80722	D	1	P	0.38078	0.617	B	0.34242	0.178	T	0.25012	-1.0144	10	0.13470	T	0.59	-0.2463	5.6397	0.17557	0.3187:0.0:0.5547:0.1266	.	824	A2RUB6	CCD66_HUMAN	T	824;790;824	ENSP00000378167:R824T;ENSP00000326050:R790T;ENSP00000404320:R824T	ENSP00000326050:R790T	R	+	2	0	CCDC66	56628431	0.973000	0.33851	0.044000	0.18714	0.034000	0.12701	0.165000	0.16564	-0.081000	0.12662	0.591000	0.81541	AGA	CCDC66	-	NULL		0.338	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1	G	NM_001012506		56653391	1	no_errors	ENST00000394672	ensembl	human	known	70_37	missense	SNP	0.929	C	C	56653391	G	C	56653391	3	2	185	1	0	0	0	0	1	0	0	0	2843	942	33	1	2533	1	CCDC66	3	56653391	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	55454	56653391	141369039	331	34606										
FLNB	2317	genome.wustl.edu	37	chr3	58109198	58109198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaccgggggccctgggcctgGaagctgtctcggactcggga	18	12	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:58109198G>A	ENST00000295956.4	+	21	3670	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K	FLNB_ENST00000357272.4_Missense_Mutation_p.E1169K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1169K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1169K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1169K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1000K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1000K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1169K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1169	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGGCCTGGAAGCTGTCTC	0.627																																																	0													54	58	56					3																	58109198		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3505G>A	3.37:g.58109198G>A	ENSP00000295956:p.Glu1169Lys		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1169K	ENST00000295956.4	37	c.3505	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294063	0.81025	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.95	5.95	0.96441	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.089102	0.85682	D	0.000000	D	0.89870	0.6840	L	0.47016	1.485	0.80722	D	1	P;D;P;B;P;P	0.65815	0.768;0.995;0.729;0.096;0.661;0.881	B;D;P;B;P;P	0.63113	0.341;0.911;0.576;0.174;0.472;0.626	D	0.88921	0.3366	10	0.51188	T	0.08	.	20.3789	0.98926	0.0:0.0:1.0:0.0	.	1169;1169;1000;1000;1169;1169	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	1169;1169;1169;1169;1169;1169;1000;1000	ENSP00000295956:E1169K;ENSP00000420213:E1169K;ENSP00000351339:E1169K;ENSP00000415599:E1169K;ENSP00000232447:E1169K;ENSP00000349819:E1169K;ENSP00000418510:E1000K;ENSP00000414532:E1000K	ENSP00000295956:E1169K	E	+	1	0	FLNB	58084238	1.000000	0.71417	0.995000	0.50966	0.177000	0.22998	7.928000	0.87587	2.826000	0.97356	0.563000	0.77884	GAA	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	G	NM_001457		58109198	1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58109198	G	A	58109198	3	1	185	1	0	0	0	0	1	0	0	0	5952	1175	41	1	3587	1	FLNB	3	58109198	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1455807	58109198	139913232	332	34607										
ACOX2	8309	genome.wustl.edu	37	chr3	58490952	58490952	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgaatactgttggttatttCatagcttggatctccaactt	7	7	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:58490952C>G	ENST00000302819.5	-	15	2336	c.2045G>C	c.(2044-2046)tGa>tCa	p.*682S	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Nonstop_Mutation_p.*668S	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	0					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTGGTTATTTCATAGCTTGGA	0.323																																																	0													185	186	185					3																	58490952		2203	4300	6503	SO:0001578	stop_lost	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.2045G>C	3.37:g.58490952C>G			A6NF16|B2R8U5	Nonstop_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.*682S	ENST00000302819.5	37	c.2045	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067989	0.55539	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	.	.	.	5.72	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3391	0.32232	0.0:0.7641:0.0:0.2359	.	.	.	.	S	668;682	.	.	X	-	2	2	ACOX2	58465992	0.998000	0.40836	0.978000	0.43139	0.976000	0.68499	1.006000	0.29847	1.430000	0.47334	0.579000	0.79373	TGA	ACOX2	-	NULL		0.323	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58490952	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	nonstop	SNP	0.999	G	G	58490952	C	G	58490952	4	3	185	1	0	0	0	0	0	0	0	0	159	837	29	1	4	1	ACOX2	3	58490952	Nonstop_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	381754	58490952	139531478	333	34608										
FEZF2	55079	genome.wustl.edu	37	chr3	62358300	62358300	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagtgtctttgacggcacctCgtagcctaggggctggaggg	16	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:62358300C>G	ENST00000283268.3	-	2	538	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	FEZF2_ENST00000486811.1_Missense_Mutation_p.E82Q|FEZF2_ENST00000475839.1_Missense_Mutation_p.E82Q	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	82					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GACGGCACCTCGTAGCCTAGG	0.706																																					NSCLC(170;1772 2053 12525 15604 23984)												0													30	34	33					3																	62358300		2203	4300	6503	SO:0001583	missense	55079			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.244G>C	3.37:g.62358300C>G	ENSP00000283268:p.Glu82Gln		A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E82Q	ENST00000283268.3	37	c.244	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102690	0.56183	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.09538	2.97;2.97;2.97	5.1	5.1	0.69264	.	0.099870	0.64402	D	0.000001	T	0.11665	0.0284	L	0.50333	1.59	0.53688	D	0.999975	P	0.47034	0.889	B	0.34038	0.174	T	0.05053	-1.0909	10	0.72032	D	0.01	-15.3945	18.119	0.89565	0.0:1.0:0.0:0.0	.	82	Q8TBJ5	FEZF2_HUMAN	Q	82	ENSP00000418589:E82Q;ENSP00000283268:E82Q;ENSP00000418804:E82Q	ENSP00000283268:E82Q	E	-	1	0	FEZF2	62333340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.977000	0.70492	2.399000	0.81585	0.555000	0.69702	GAG	FEZF2	-	NULL		0.706	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	C	NM_018008		62358300	-1	no_errors	ENST00000283268	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62358300	C	G	62358300	3	3	185	1	0	0	0	0	1	0	0	0	5844	893	31	1	1151	1	FEZF2	3	62358300	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3867348	62358300	135664130	334	34609										
THOC7	80145	genome.wustl.edu	37	chr3	63819876	63819876	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctctgagagtttttcatcatCtgtaattgagaaggaaacat	8	6	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:63819876C>G	ENST00000295899.5	-	8	660		c.e8-1		THOC7_ENST00000498422.1_5'Flank|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTTTCATCATCTGTAATTGAG	0.368																																					Colon(48;665 1127 6720 18651)												0													159	137	145					3																	63819876		2203	4300	6503	SO:0001630	splice_region_variant	80145			BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"THO complex subunits"	29874	protein-coding gene	gene with protein product	"Ngg1 interacting factor 3 like 1 binding protein 1", "functional spliceosome-associated protein 24"	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.548-1G>C	3.37:g.63819876C>G			Q6P1L3|Q8WUF2|Q9H5H0	Splice_Site	SNP	-	e8-1	ENST00000295899.5	37	c.548-1	CCDS2900.1	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259759	0.80246	.	.	ENSG00000163634	ENST00000295899	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4944	0.90860	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC7	63794916	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.182000	0.65059	2.814000	0.96858	0.585000	0.79938	.	THOC7	-	-		0.368	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC7	HGNC	protein_coding	OTTHUMT00000352096.1	C	NM_025075	Intron	63819876	-1	no_errors	ENST00000295899	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	63819876	C	G	63819876	5	3	185	1	0	0	0	0	0	0	1	0	15900	927	32	1	71	1	THOC7	3	63819876	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1461576	63819876	134202554	335	34610										
FOXP1	27086	genome.wustl.edu	37	chr3	71015120	71015120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cattgccccgttcagctcttCccgtattgcgctggctaagt	9	14	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:71015120C>T	ENST00000318789.4	-	20	2335	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	FOXP1_ENST00000475937.1_Missense_Mutation_p.E604K|FOXP1_ENST00000493089.1_Missense_Mutation_p.E603K|FOXP1_ENST00000468577.1_Missense_Mutation_p.E540K|FOXP1_ENST00000491238.1_Missense_Mutation_p.E606K|FOXP1_ENST00000484350.1_Missense_Mutation_p.E528K|FOXP1_ENST00000498215.1_Missense_Mutation_p.E604K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	604					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTCAGCTCTTCCCGTATTGCG	0.512			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													260	221	234					3																	71015120		2203	4300	6503	SO:0001583	missense	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1810G>A	3.37:g.71015120C>T	ENSP00000318902:p.Glu604Lys		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E604K	ENST00000318789.4	37	c.1810	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.631592	0.96682	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.90844	-2.62;-2.62;-2.72;-2.74;-2.62;-2.62;-2.62;-2.49	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.94512	0.8233	L	0.58101	1.795	0.80722	D	1	D;D;P	0.71674	0.998;0.985;0.944	D;D;P	0.78314	0.991;0.926;0.599	D	0.93049	0.6464	10	0.40728	T	0.16	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	603;528;604	G5E9V8;Q8NAN6;Q9H334	.;.;FOXP1_HUMAN	K	604;416;604;500;606;603;604;528;540	ENSP00000318902:E604K;ENSP00000419393:E604K;ENSP00000418225:E500K;ENSP00000420736:E606K;ENSP00000418524:E603K;ENSP00000418102:E604K;ENSP00000417857:E528K;ENSP00000418883:E540K	ENSP00000318902:E604K	E	-	1	0	FOXP1	71097810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.815000	0.96918	0.561000	0.74099	GAA	FOXP1	-	NULL		0.512	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	C	NM_032682		71015120	-1	no_errors	ENST00000318789	ensembl	human	known	70_37	missense	SNP	1.000	T	T	71015120	C	T	71015120	3	4	185	1	0	0	0	0	1	0	0	0	6044	864	30	1	231	1	FOXP1	3	71015120	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7195244	71015120	127007310	336	34611										
ROBO1	6091	genome.wustl.edu	37	chr3	78663894	78663894	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcggcactcatgttgctgtCtgtagacacgggacttgtgg	15	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:78663894C>G	ENST00000464233.1	-	28	4452	c.4339G>C	c.(4339-4341)Gac>Cac	p.D1447H	ROBO1_ENST00000495273.1_Missense_Mutation_p.D1402H|ROBO1_ENST00000467549.1_Missense_Mutation_p.D1347H|ROBO1_ENST00000436010.2_Missense_Mutation_p.D1408H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1447					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATGTTGCTGTCTGTAGACACG	0.488																																																	0													102	101	102					3																	78663894		1938	4141	6079	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4339G>C	3.37:g.78663894C>G	ENSP00000420321:p.Asp1447His		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D1447H	ENST00000464233.1	37	c.4339	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692167	0.88735	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.77877	-0.87;-0.92;-0.94;-1.13	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.82995	0.5158	L	0.32530	0.975	0.80722	D	1	D;D;D;D;B	0.89917	1.0;0.981;1.0;0.963;0.005	D;P;D;P;B	0.87578	0.998;0.592;0.998;0.563;0.007	T	0.80984	-0.1138	9	.	.	.	.	19.327	0.94265	0.0:1.0:0.0:0.0	.	1411;1447;1402;1347;1408	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	1408;1402;1447;1402;1347;1451	ENSP00000406043:D1408H;ENSP00000420321:D1447H;ENSP00000420637:D1402H;ENSP00000417992:D1347H	.	D	-	1	0	ROBO1	78746584	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	7.445000	0.80570	2.636000	0.89361	0.585000	0.79938	GAC	ROBO1	-	NULL		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	C	NM_002941		78663894	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78663894	C	G	78663894	3	3	185	1	0	0	0	0	1	0	0	0	13543	913	32	1	632	1	ROBO1	3	78663894	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7648774	78663894	119358536	337	34612										
IMPG2	50939	genome.wustl.edu	37	chr3	101023077	101023077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actccatcctcacacaaattCatccagtaatgatattcctc	2	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:101023077C>T	ENST00000193391.7	-	3	601	c.414G>A	c.(412-414)atG>atA	p.M138I		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	138					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CACACAAATTCATCCAGTAAT	0.408																																																	0													131	127	128					3																	101023077		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.414G>A	3.37:g.101023077C>T	ENSP00000193391:p.Met138Ile		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.M138I	ENST00000193391.7	37	c.414	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024749	0.75390	.	.	ENSG00000081148	ENST00000193391	T	0.76060	-0.99	5.75	5.75	0.90469	.	0.058711	0.64402	D	0.000001	T	0.71031	0.3292	L	0.57536	1.79	0.37964	D	0.933076	B;B	0.22346	0.068;0.068	B;B	0.21708	0.036;0.036	T	0.71513	-0.4570	10	0.59425	D	0.04	-13.9081	12.8456	0.57827	0.0:0.9248:0.0:0.0752	.	138;138	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	I	138	ENSP00000193391:M138I	ENSP00000193391:M138I	M	-	3	0	IMPG2	102505767	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.003000	0.49505	2.716000	0.92895	0.650000	0.86243	ATG	IMPG2	-	NULL		0.408	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	C			101023077	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	1.000	T	T	101023077	C	T	101023077	3	4	185	1	0	0	0	0	1	0	0	0	7749	826	29	1	3379	1	IMPG2	3	101023077	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	22359183	101023077	96999353	338	34613										
SENP7	57337	genome.wustl.edu	37	chr3	101046647	101046647	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttttagtttaacttcccactCtacctctaaatacctgaaat	2	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:101046647C>G	ENST00000394095.2	-	23	2931	c.2878G>C	c.(2878-2880)Gag>Cag	p.E960Q	SENP7_ENST00000394091.1_Missense_Mutation_p.E796Q|SENP7_ENST00000394085.3_Missense_Mutation_p.E148Q|SENP7_ENST00000394094.2_Missense_Mutation_p.E895Q|SENP7_ENST00000358203.3_Missense_Mutation_p.E796Q|SENP7_ENST00000348610.3_Missense_Mutation_p.E927Q|SENP7_ENST00000314261.7_Missense_Mutation_p.E894Q	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	960	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTTCCCACTCTACCTCTAAA	0.343																																																	0													157	141	146					3																	101046647		2203	4300	6503	SO:0001583	missense	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2878G>C	3.37:g.101046647C>G	ENSP00000377655:p.Glu960Gln		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.E960Q	ENST00000394095.2	37	c.2878	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634448	0.87660	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.943;0.982;0.973;0.978;1.0	T	0.77127	-0.2702	10	0.72032	D	0.01	-2.3598	19.2371	0.93866	0.0:1.0:0.0:0.0	.	796;894;927;960;148	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	Q	960;895;894;796;796;148;927	ENSP00000377655:E960Q;ENSP00000377654:E895Q;ENSP00000313624:E894Q;ENSP00000377651:E796Q;ENSP00000350936:E796Q;ENSP00000377647:E148Q;ENSP00000342159:E927Q	ENSP00000313624:E894Q	E	-	1	0	SENP7	102529337	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.893000	0.75649	2.609000	0.88269	0.655000	0.94253	GAG	SENP7	-	pfam_Peptidase_C48,pfscan_Peptidase_C48		0.343	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	C	NM_020654		101046647	-1	no_errors	ENST00000394095	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101046647	C	G	101046647	3	3	185	1	0	0	0	0	1	0	0	0	14081	922	32	1	282	1	SENP7	3	101046647	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	23570	101046647	96975783	339	34614										
CBLB	868	genome.wustl.edu	37	chr3	105459466	105459466	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatcgagtgcaacttaaccgGaaaatatagctgcaaaacat	7	8	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:105459466G>C	ENST00000264122.4	-	7	1176	c.855C>G	c.(853-855)ttC>ttG	p.F285L	CBLB_ENST00000405772.1_Missense_Mutation_p.F285L|CBLB_ENST00000394027.3_Missense_Mutation_p.F307L|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.F285L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	285	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AACTTAACCGGAAAATATAGC	0.353			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													87	75	79					3																	105459466		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.855C>G	3.37:g.105459466G>C	ENSP00000264122:p.Phe285Leu		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.F285L	ENST00000264122.4	37	c.855	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834622	0.71373	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.92	0.849	0.18972	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.993;0.997;1.0	D;D;D	0.91635	0.983;0.98;0.999	D	0.86719	0.1941	10	0.87932	D	0	-19.021	9.9385	0.41565	0.3543:0.0:0.6457:0.0	.	307;285;285	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	L	285;307;285;285	ENSP00000264122:F285L;ENSP00000377595:F307L;ENSP00000384816:F285L;ENSP00000384938:F285L	ENSP00000264122:F285L	F	-	3	2	CBLB	106942156	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	2.710000	0.47169	0.080000	0.16959	-0.827000	0.03088	TTC	CBLB	-	pfam_Adaptor_Cbl_SH2-like		0.353	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	G	NM_170662		105459466	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	1.000	C	C	105459466	G	C	105459466	3	2	185	1	0	0	0	0	1	0	0	0	2706	1165	41	1	2145	1	CBLB	3	105459466	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4412819	105459466	92562964	340	34615										
MYH15	22989	genome.wustl.edu	37	chr3	108118027	108118027	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgaggtcctcttccatcttCttcttcagccgggtaacctc	7	14	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:108118027C>G	ENST00000273353.3	-	35	4940	c.4884G>C	c.(4882-4884)aaG>aaC	p.K1628N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1628						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CTTCCATCTTCTTCTTCAGCC	0.483																																																	0													101	103	102					3																	108118027		2154	4297	6451	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4884G>C	3.37:g.108118027C>G	ENSP00000273353:p.Lys1628Asn			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.K1628N	ENST00000273353.3	37	c.4884	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477083	0.63849	.	.	ENSG00000144821	ENST00000273353	D	0.90004	-2.6	5.91	3.09	0.35607	Myosin tail (1);	.	.	.	.	D	0.92848	0.7725	M	0.82132	2.575	0.50467	D	0.99987	D	0.59767	0.986	D	0.75484	0.986	D	0.91369	0.5118	9	0.87932	D	0	.	6.1093	0.20092	0.0:0.6085:0.1267:0.2649	.	1628	Q9Y2K3	MYH15_HUMAN	N	1628	ENSP00000273353:K1628N	ENSP00000273353:K1628N	K	-	3	2	MYH15	109600717	1.000000	0.71417	0.023000	0.16930	0.827000	0.46813	2.547000	0.45786	0.808000	0.34231	0.650000	0.86243	AAG	MYH15	-	pfam_Myosin_tail		0.483	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108118027	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108118027	C	G	108118027	3	3	185	1	0	0	0	0	1	0	0	0	10057	912	32	1	988	1	MYH15	3	108118027	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2658561	108118027	89904403	341	34616										
MYH15	22989	genome.wustl.edu	37	chr3	108149726	108149726	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgagctaccaggcctttctCattctccacttttgaattca	5	13	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:108149726C>G	ENST00000273353.3	-	27	3381	c.3325G>C	c.(3325-3327)Gag>Cag	p.E1109Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1109						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						AGGCCTTTCTCATTCTCCACT	0.318																																																	0													101	93	96					3																	108149726		1821	4084	5905	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3325G>C	3.37:g.108149726C>G	ENSP00000273353:p.Glu1109Gln			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1109Q	ENST00000273353.3	37	c.3325	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983697	0.53827	.	.	ENSG00000144821	ENST00000273353	D	0.83419	-1.72	5.22	2.44	0.29823	Myosin tail (1);	.	.	.	.	D	0.85318	0.5669	M	0.68593	2.085	0.43058	D	0.994679	P	0.46578	0.88	P	0.53760	0.734	D	0.83726	0.0195	9	0.87932	D	0	.	8.7189	0.34428	0.0:0.7368:0.1248:0.1384	.	1109	Q9Y2K3	MYH15_HUMAN	Q	1109	ENSP00000273353:E1109Q	ENSP00000273353:E1109Q	E	-	1	0	MYH15	109632416	0.995000	0.38212	0.005000	0.12908	0.551000	0.35334	1.902000	0.39848	0.285000	0.22329	-0.262000	0.10625	GAG	MYH15	-	pfam_Myosin_tail		0.318	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108149726	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108149726	C	G	108149726	3	3	185	1	0	0	0	0	1	0	0	0	10057	835	29	1	2579	1	MYH15	3	108149726	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	31699	108149726	89872704	342	34617										
PHLDB2	90102	genome.wustl.edu	37	chr3	111603801	111603801	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttggggaaaaggatctacctCatagcgtaatagacaatgac	10	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:111603801C>T	ENST00000431670.2	+	2	1288	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	PHLDB2_ENST00000412622.1_Missense_Mutation_p.H293Y|PHLDB2_ENST00000477695.1_Missense_Mutation_p.H293Y|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H293Y|PHLDB2_ENST00000393925.3_Missense_Mutation_p.H293Y|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H320Y|PHLDB2_ENST00000478922.1_Missense_Mutation_p.H293Y	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	293						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGATCTACCTCATAGCGTAAT	0.433																																																	0													66	66	66					3																	111603801		2203	4300	6503	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.877C>T	3.37:g.111603801C>T	ENSP00000405405:p.His293Tyr		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H293Y	ENST00000431670.2	37	c.877	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212915	0.58452	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.32272	1.46;1.48;1.47;1.48;1.48;1.47	5.4	5.4	0.78164	.	0.313426	0.35466	N	0.003187	T	0.34193	0.0889	L	0.29908	0.895	0.28738	N	0.902102	B;D;D;P;P	0.59767	0.347;0.986;0.962;0.61;0.826	B;P;P;B;B	0.51016	0.063;0.656;0.592;0.346;0.201	T	0.13522	-1.0506	10	0.51188	T	0.08	.	16.4564	0.84019	0.0:1.0:0.0:0.0	.	293;293;293;293;320	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	Y	320;320;293;293;293;293;293;293;293	ENSP00000377500:H320Y;ENSP00000405405:H293Y;ENSP00000405292:H293Y;ENSP00000418296:H293Y;ENSP00000377502:H293Y;ENSP00000418319:H293Y	ENSP00000352764:H320Y	H	+	1	0	PHLDB2	113086491	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.119000	0.64679	2.703000	0.92315	0.655000	0.94253	CAT	PHLDB2	-	NULL		0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	C	NM_145753		111603801	1	no_errors	ENST00000393925	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111603801	C	T	111603801	3	4	185	1	0	0	0	0	1	0	0	0	11876	826	29	1	964	1	PHLDB2	3	111603801	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3454075	111603801	86418629	343	34618										
SLC9A10	285335	genome.wustl.edu	37	chr3	111927180	111927180	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccaacatgttcaaattcctCagtaaatactattgtatggc	5	9	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:111927180C>G	ENST00000305815.5	-	16	2083	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E563Q	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	611	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TCAAATTCCTCAGTAAATACT	0.274																																																	0													75	89	84					3																	111927180		2195	4288	6483	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1831G>C	3.37:g.111927180C>G	ENSP00000306627:p.Glu611Gln		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.E611Q	ENST00000305815.5	37	c.1831	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286736	0.23478	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.76578	-1.03;-1.03	5.72	2.94	0.34122	.	0.873627	0.10086	N	0.717745	T	0.73992	0.3658	N	0.14661	0.345	0.21984	N	0.99943	D;P	0.56746	0.977;0.627	P;B	0.59221	0.854;0.196	T	0.61836	-0.6981	10	0.62326	D	0.03	-0.8615	7.743	0.28851	0.0:0.7336:0.0:0.2664	.	563;611	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Q	611;563	ENSP00000306627:E611Q;ENSP00000420688:E563Q	ENSP00000306627:E611Q	E	-	1	0	SLC9A10	113409870	0.970000	0.33590	0.687000	0.30102	0.065000	0.16274	1.212000	0.32394	0.426000	0.26116	0.650000	0.86243	GAG	SLC9C1	-	NULL		0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	C	NM_183061		111927180	-1	no_errors	ENST00000305815	ensembl	human	known	70_37	missense	SNP	0.981	G	G	111927180	C	G	111927180	3	3	185	1	0	0	0	0	1	0	0	0	14740	835	29	1	1758	1	SLC9A10	3	111927180	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	323379	111927180	86095250	344	34619										
ATG3	64422	genome.wustl.edu	37	chr3	112260706	112260706	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttcctcttcacatagtgctGagcaatcttgaagccttata	6	11	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:112260706G>A	ENST00000283290.5	-	7	853	c.419C>T	c.(418-420)tCa>tTa	p.S140L	ATG3_ENST00000402314.2_Missense_Mutation_p.S140L|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	140					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						ACATAGTGCTGAGCAATCTTG	0.343																																																	0													154	142	146					3																	112260706		2203	4300	6503	SO:0001583	missense	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.419C>T	3.37:g.112260706G>A	ENSP00000283290:p.Ser140Leu		Q6PKC5|Q9H6L9	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C	p.S140L	ENST00000283290.5	37	c.419	CCDS2966.1	3	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257445	0.39896	.	.	ENSG00000144848	ENST00000283290;ENST00000402314;ENST00000492886	.	.	.	5.49	5.49	0.81192	Autophagy-related protein 3, N-terminal (1);	0.590906	0.17507	N	0.171757	T	0.39253	0.1071	N	0.03608	-0.345	0.51482	D	0.999921	B;B;B	0.30281	0.275;0.0;0.0	B;B;B	0.33690	0.168;0.004;0.003	T	0.36261	-0.9755	9	0.28530	T	0.3	-17.0725	17.5544	0.87886	0.0:0.0:1.0:0.0	.	53;140;140	C9JNW8;Q9NT62;Q9NT62-2	.;ATG3_HUMAN;.	L	140;140;53	.	ENSP00000283290:S140L	S	-	2	0	ATG3	113743396	1.000000	0.71417	0.914000	0.36105	0.671000	0.39405	5.217000	0.65252	2.577000	0.86979	0.563000	0.77884	TCA	ATG3	-	pfam_Autophagy-rel_prot_3_N		0.343	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG3	HGNC	protein_coding	OTTHUMT00000354147.1	G	NM_022488		112260706	-1	no_errors	ENST00000283290	ensembl	human	known	70_37	missense	SNP	0.998	A	A	112260706	G	A	112260706	3	1	185	1	0	0	0	0	1	0	0	0	1096	1294	45	1	549	1	ATG3	3	112260706	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	333526	112260706	85761724	345	34620										
KIAA2018	205717	genome.wustl.edu	37	chr3	113377147	113377147	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agctactatatcagtttgctCtacaaaggtacagctgtcac	7	10	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:113377147C>A	ENST00000478658.1	-	5	3399	c.3382G>T	c.(3382-3384)Gag>Tag	p.E1128*	KIAA2018_ENST00000316407.4_Nonsense_Mutation_p.E1128*|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1128						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCAGTTTGCTCTACAAAGGTA	0.443																																																	0													130	123	125					3																	113377147		1951	4148	6099	SO:0001587	stop_gained	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3382G>T	3.37:g.113377147C>A	ENSP00000420721:p.Glu1128*		Q7Z3L9|Q8IVF3|Q9H8T4	Nonsense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E1128*	ENST00000478658.1	37	c.3382	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.339378	0.98767	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-10.8055	19.2449	0.93898	0.0:1.0:0.0:0.0	.	.	.	.	X	1128	.	ENSP00000320794:E1128X	E	-	1	0	KIAA2018	114859837	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	7.403000	0.79983	2.560000	0.86352	0.561000	0.74099	GAG	KIAA2018	-	NULL		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113377147	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	113377147	C	A	113377147	4	1	185	1	0	0	0	0	0	1	0	0	8288	922	32	3	3359	3	KIAA2018	3	113377147	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1116441	113377147	84645283	346	34621										
TIGIT	201633	genome.wustl.edu	37	chr3	114014651	114014651	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacgatacaggggagtacttCtgcatctatcacacctaccc	7	13	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:114014651C>T	ENST00000486257.1	+	3	578	c.321C>T	c.(319-321)ttC>ttT	p.F107F	TIGIT_ENST00000383671.3_Silent_p.F107F|TIGIT_ENST00000481065.1_Silent_p.F174F			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	107	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GGGAGTACTTCTGCATCTATC	0.567																																																	0													88	83	85					3																	114014651		2203	4300	6503	SO:0001819	synonymous_variant	201633			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"Immunoglobulin superfamily / V-set domain containing"	26838	protein-coding gene	gene with protein product		612859	"V-set and immunoglobulin domain containing 9", "V-set and transmembrane domain containing 3"	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.321C>T	3.37:g.114014651C>T			Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.F107	ENST00000486257.1	37	c.321	CCDS2980.1	3																																																																																			TIGIT	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like		0.567	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGIT	HGNC	protein_coding	OTTHUMT00000354690.1	C	NM_173799		114014651	1	no_errors	ENST00000383671	ensembl	human	known	70_37	silent	SNP	0.923	T	T	114014651	C	T	114014651	2	4	185	1	0	0	0	0	0	0	0	1	15932	912	32	1		1	TIGIT	3	114014651	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	637504	114014651	84007779	347	34622										
TMEM39A	55254	genome.wustl.edu	37	chr3	119150996	119150996	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcaaggaatagagctgataGaagacgacactgccctcaat	10	9	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:119150996G>A	ENST00000319172.5	-	9	1719	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	433						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGAGCTGATAGAAGACGACAC	0.393																																																	0													73	68	70					3																	119150996		2203	4300	6503	SO:0001819	synonymous_variant	55254			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1299C>T	3.37:g.119150996G>A			D3DN80|Q53FN4|Q53GI1|Q6PKB5	Silent	SNP	pfam_Uncharacterised_TMEM39	p.F433	ENST00000319172.5	37	c.1299	CCDS2987.1	3																																																																																			TMEM39A	-	pfam_Uncharacterised_TMEM39		0.393	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3	G	NM_018266		119150996	-1	no_errors	ENST00000319172	ensembl	human	known	70_37	silent	SNP	1.000	A	A	119150996	G	A	119150996	2	1	185	1	0	0	0	0	0	0	0	1	16191	933	33	1		1	TMEM39A	3	119150996	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5136345	119150996	78871434	348	34623										
C3orf15	89876	genome.wustl.edu	37	chr3	119452308	119452308	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accaccaaagctggttttctGaagagggcagcaaggttgga	13	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:119452308G>A	ENST00000273390.5	+	10	1376	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)											CTGGTTTTCTGAAGAGGGCAG	0.403																																																	0													125	122	123					3																	119452308		2203	4300	6503	SO:0001819	synonymous_variant	89876			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1299G>A	3.37:g.119452308G>A			A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	superfamily_S-AdoMet_deCO2ase_core	p.L433	ENST00000273390.5	37	c.1299	CCDS2994.1	3																																																																																			MAATS1	-	NULL		0.403	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	HGNC	protein_coding	OTTHUMT00000355222.1	G	NM_033364		119452308	1	no_errors	ENST00000273390	ensembl	human	known	70_37	silent	SNP	0.992	A	A	119452308	G	A	119452308	2	1	185	1	0	0	0	0	0	0	0	1	2214	1277	45	1		1	C3orf15	3	119452308	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	301312	119452308	78570122	349	34624										
POLQ	10721	genome.wustl.edu	37	chr3	121208843	121208843	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatggaacatgtctgatgttCttgattcccattctggaaat	8	7	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:121208843C>T	ENST00000264233.5	-	16	3063	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	979					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTCTGATGTTCTTGATTCCCA	0.353								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													52	54	53					3																	121208843		2202	4299	6501	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2935G>A	3.37:g.121208843C>T	ENSP00000264233:p.Glu979Lys		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.E979K	ENST00000264233.5	37	c.2935	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140120	0.37825	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.56275	0.47	4.91	4.91	0.64330	.	0.190625	0.43416	D	0.000573	T	0.45196	0.1330	L	0.27053	0.805	0.23113	N	0.99828	P;P	0.51351	0.544;0.944	B;P	0.48270	0.162;0.572	T	0.33548	-0.9864	10	0.24483	T	0.36	.	13.3223	0.60440	0.0:0.8285:0.1715:0.0	.	979;151	O75417;O75417-2	DPOLQ_HUMAN;.	K	602;979;1115	ENSP00000264233:E979K	ENSP00000264233:E979K	E	-	1	0	POLQ	122691533	0.302000	0.24454	0.060000	0.19600	0.748000	0.42578	1.513000	0.35823	2.554000	0.86153	0.563000	0.77884	GAA	POLQ	-	NULL		0.353	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	C	NM_199420		121208843	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	0.591	T	T	121208843	C	T	121208843	3	4	185	1	0	0	0	0	1	0	0	0	12232	922	32	1	4897	1	POLQ	3	121208843	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1756535	121208843	76813587	350	34625										
GOLGB1	2804	genome.wustl.edu	37	chr3	121417372	121417372	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccatcctgctttgttgatttCaattctactccagcatcatt	4	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:121417372C>G	ENST00000340645.5	-	13	2108	c.1983G>C	c.(1981-1983)ttG>ttC	p.L661F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L666F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	661					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTGTTGATTTCAATTCTACTC	0.388																																																	0													91	93	92					3																	121417372		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1983G>C	3.37:g.121417372C>G	ENSP00000341848:p.Leu661Phe		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L661F	ENST00000340645.5	37	c.1983	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.581|3.581	-0.085517|-0.085517	0.07097|0.07097	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.28895|.	2.2;2.19;1.59|.	4.95|4.95	-4.6|-4.6	0.03390|0.03390	.|.	1.106060|.	0.06995|.	N|.	0.822250|.	T|.	0.37237|.	0.0996|.	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	P;P;P;P;P|.	0.50617|.	0.773;0.937;0.773;0.937;0.773|.	B;P;B;P;B|.	0.55508|.	0.277;0.777;0.369;0.679;0.277|.	T|.	0.43048|.	-0.9415|.	10|.	0.21540|.	T|.	0.41|.	.|.	5.0708|5.0708	0.14606|0.14606	0.209:0.4153:0.0:0.3757|0.209:0.4153:0.0:0.3757	.|.	586;625;666;666;661|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	F|S	661;666;625;473|532	ENSP00000341848:L661F;ENSP00000377275:L666F;ENSP00000418231:L625F|.	ENSP00000341848:L661F|.	L|X	-|-	3|2	2|2	GOLGB1|GOLGB1	122900062|122900062	0.000000|0.000000	0.05858|0.05858	0.015000|0.015000	0.15790|0.15790	0.090000|0.090000	0.18270|0.18270	-0.261000|-0.261000	0.08694|0.08694	-0.771000|-0.771000	0.04608|0.04608	-0.140000|-0.140000	0.14226|0.14226	TTG|TGA	GOLGB1	-	NULL		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121417372	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.003	G	G	121417372	C	G	121417372	3	3	185	1	0	0	0	0	1	0	0	0	6584	825	29	1	7836	1	GOLGB1	3	121417372	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	208529	121417372	76605058	351	34626										
GOLGB1	2804	genome.wustl.edu	37	chr3	121449758	121449758	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctcatattctgatcagtgtCatcatctcctgataattcat	4	11	7	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:121449758C>T	ENST00000340645.5	-	2	186	c.61G>A	c.(61-63)Gac>Aac	p.D21N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D21N|GOLGB1_ENST00000472829.1_5'Flank	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	21				Missing (in Ref. 3; BAA05025). {ECO:0000305}.	Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGATCAGTGTCATCATCTCCT	0.388																																																	0													189	190	189					3																	121449758		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.61G>A	3.37:g.121449758C>T	ENSP00000341848:p.Asp21Asn		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.D21N	ENST00000340645.5	37	c.61	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.472350	0.01044	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000472475	T;T;T	0.24350	2.46;2.45;1.86	0.361	-0.665	0.11403	.	0.323108	0.26149	N	0.026057	T	0.08980	0.0222	N	0.08118	0	0.20196	N	0.99992	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.004	T	0.27365	-1.0076	9	0.17832	T	0.49	.	.	.	.	.	21;21;21	E7EU81;E7EP74;Q14789	.;.;GOGB1_HUMAN	N	21	ENSP00000341848:D21N;ENSP00000377275:D21N;ENSP00000418231:D21N	ENSP00000341848:D21N	D	-	1	0	GOLGB1	122932448	0.999000	0.42202	0.948000	0.38648	0.049000	0.14656	1.654000	0.37334	-0.487000	0.06735	-0.474000	0.04947	GAC	GOLGB1	-	NULL		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121449758	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.977	T	T	121449758	C	T	121449758	3	4	185	1	0	0	0	0	1	0	0	0	6584	826	29	1	9802	1	GOLGB1	3	121449758	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	32386	121449758	76572672	352	34627										
WDR5B	54554	genome.wustl.edu	37	chr3	122134139	122134139	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atttccaaattatgaccataGagtgttttctcatattttcc	4	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:122134139G>C	ENST00000330689.4	-	1	743	c.237C>G	c.(235-237)ctC>ctG	p.L79L	RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	79										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TATGACCATAGAGTGTTTTCT	0.378																																																	0													132	135	134					3																	122134139		2203	4300	6503	SO:0001819	synonymous_variant	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.237C>G	3.37:g.122134139G>C			B2RCM9|Q9NUL4	Silent	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L79	ENST00000330689.4	37	c.237	CCDS3012.1	3																																																																																			WDR5B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.378	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR5B	HGNC	protein_coding	OTTHUMT00000355753.1	G	NM_019069		122134139	-1	no_errors	ENST00000330689	ensembl	human	known	70_37	silent	SNP	0.005	C	C	122134139	G	C	122134139	2	2	185	1	0	0	0	0	0	0	0	1	17340	929	33	1		1	WDR5B	3	122134139	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	684381	122134139	75888291	353	34628										
HSPBAP1	79663	genome.wustl.edu	37	chr3	122459587	122459587	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtggttgcacacatttaattCttcctttttcatgtgctctc	6	10	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:122459587C>T	ENST00000306103.2	-	8	1215	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	358						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ACATTTAATTCTTCCTTTTTC	0.468																																																	0													216	204	208					3																	122459587		2203	4300	6503	SO:0001583	missense	79663			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1072G>A	3.37:g.122459587C>T	ENSP00000302562:p.Glu358Lys		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1	p.E358K	ENST00000306103.2	37	c.1072	CCDS3017.1	3	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799470	0.31869	.	.	ENSG00000169087	ENST00000306103	T	0.30182	1.54	5.01	4.06	0.47325	.	2.673090	0.00783	N	0.001283	T	0.24586	0.0596	L	0.27053	0.805	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.22417	-1.0217	10	0.16896	T	0.51	.	7.9623	0.30079	0.0:0.8399:0.0:0.1601	.	358	Q96EW2	HBAP1_HUMAN	K	358	ENSP00000302562:E358K	ENSP00000302562:E358K	E	-	1	0	HSPBAP1	123942277	0.006000	0.16342	0.104000	0.21259	0.261000	0.26267	1.436000	0.34980	1.213000	0.43380	0.655000	0.94253	GAA	HSPBAP1	-	NULL		0.468	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPBAP1	HGNC	protein_coding	OTTHUMT00000356161.1	C	NM_024610		122459587	-1	no_errors	ENST00000306103	ensembl	human	known	70_37	missense	SNP	0.008	T	T	122459587	C	T	122459587	3	4	185	1	0	0	0	0	1	0	0	0	7445	922	32	1	398	1	HSPBAP1	3	122459587	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	325448	122459587	75562843	354	34629										
DIRC2	84925	genome.wustl.edu	37	chr3	122591347	122591347	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagctttttgtggaaactgtCtacccagttccagaaggaat	10	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:122591347C>G	ENST00000261038.5	+	8	1622	c.1224C>G	c.(1222-1224)gtC>gtG	p.V408V		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	408					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGGAAACTGTCTACCCAGTTC	0.348																																																	0													174	178	176					3																	122591347		2203	4300	6503	SO:0001819	synonymous_variant	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1224C>G	3.37:g.122591347C>G			A8K561|Q8NBX9	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.V408	ENST00000261038.5	37	c.1224	CCDS3018.1	3																																																																																			DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.348	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122591347	1	no_errors	ENST00000261038	ensembl	human	known	70_37	silent	SNP	1.000	G	G	122591347	C	G	122591347	2	3	185	1	0	0	0	0	0	0	0	1	4544	900	32	1		1	DIRC2	3	122591347	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	131760	122591347	75431083	355	34630										
MYLK	4638	genome.wustl.edu	37	chr3	123419273	123419273	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctgaaggctgtgcattgctCaggggcttggaactctccac	12	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:123419273C>T	ENST00000475616.1	-	15	3041	c.3042G>A	c.(3040-3042)ctG>ctA	p.L1014L	MYLK_ENST00000360304.3_Silent_p.L1014L|MYLK_ENST00000346322.5_Silent_p.L945L|MYLK_ENST00000360772.3_Silent_p.L1014L|MYLK_ENST00000359169.1_Silent_p.L1014L|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	1014	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGCATTGCTCAGGGGCTTGG	0.592																																																	0													88	92	91					3																	123419273		2203	4300	6503	SO:0001819	synonymous_variant	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3042G>A	3.37:g.123419273C>T			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L1014	ENST00000475616.1	37	c.3042	CCDS46896.1	3																																																																																			MYLK	-	NULL		0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	C	NM_053025		123419273	-1	no_errors	ENST00000360304	ensembl	human	known	70_37	silent	SNP	0.000	T	T	123419273	C	T	123419273	2	4	185	1	0	0	0	0	0	0	0	1	10079	813	29	1		1	MYLK	3	123419273	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	827926	123419273	74603157	356	34631										
SLC12A8	84561	genome.wustl.edu	37	chr3	124802869	124802869	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccagggacggcgccaagatGatctgctcctgaggggaccg	16	12	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:124802869G>A	ENST00000393469.4	-	13	2059	c.2010C>T	c.(2008-2010)atC>atT	p.I670I	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Silent_p.I331I|SLC12A8_ENST00000423114.2_Silent_p.I699I|SLC12A8_ENST00000430155.2_Silent_p.I471I|SLC12A8_ENST00000469902.1_Silent_p.I670I	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	670					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GCGCCAAGATGATCTGCTCCT	0.567																																																	0													38	43	41					3																	124802869		2059	4213	6272	SO:0001819	synonymous_variant	84561				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.2010C>T	3.37:g.124802869G>A			C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1	p.I699	ENST00000393469.4	37	c.2097	CCDS43143.1	3																																																																																			SLC12A8	-	NULL		0.567	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	G	NM_024628		124802869	-1	no_errors	ENST00000423114	ensembl	human	known	70_37	silent	SNP	0.725	A	A	124802869	G	A	124802869	2	1	185	1	0	0	0	0	0	0	0	1	14419	1280	45	1		1	SLC12A8	3	124802869	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1383596	124802869	73219561	357	34632										
RUVBL1	8607	genome.wustl.edu	37	chr3	127816255	127816255	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtccagcatgtggacctcatCaacaaacagcacacccggga	9	14	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:127816255C>T	ENST00000322623.5	-	8	1003	c.904G>A	c.(904-906)Gat>Aat	p.D302N	RUVBL1_ENST00000464873.1_Missense_Mutation_p.D242N|RUVBL1_ENST00000417360.1_Missense_Mutation_p.D302N	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	302					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		TGGACCTCATCAACAAACAGC	0.527																																																	0													181	147	158					3																	127816255		2203	4300	6503	SO:0001583	missense	8607			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"INO80 complex subunits", "ATPases / AAA-type"	10474	protein-coding gene	gene with protein product	"pontin", "INO80 complex subunit H"	603449	"RuvB (E coli homolog)-like 1", "RuvB-like 1 (E. coli)", "RuvB-like AAA ATPase"			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.904G>A	3.37:g.127816255C>T	ENSP00000318297:p.Asp302Asn		B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase	p.D302N	ENST00000322623.5	37	c.904	CCDS3047.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982795	0.93044	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892	T;T;T	0.77877	-0.67;-1.13;-0.28	5.57	4.69	0.59074	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	M	0.93507	3.425	0.80722	D	1	P;P;P;B	0.48162	0.761;0.906;0.799;0.281	P;P;P;B	0.61397	0.75;0.888;0.682;0.435	D	0.92631	0.6116	10	0.87932	D	0	-8.8975	15.6803	0.77364	0.1382:0.8618:0.0:0.0	.	302;302;242;242	Q9Y265-2;Q9Y265;E7ETR0;B3KRS7	.;RUVB1_HUMAN;.;.	N	242;302;302;101	ENSP00000420738:D242N;ENSP00000318297:D302N;ENSP00000393755:D302N	ENSP00000318297:D302N	D	-	1	0	RUVBL1	129298945	1.000000	0.71417	0.279000	0.24732	0.997000	0.91878	7.277000	0.78572	1.315000	0.45114	0.491000	0.48974	GAT	RUVBL1	-	pfam_TIP49_C,smart_AAA+_ATPase		0.527	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	HGNC	protein_coding	OTTHUMT00000356728.2	C			127816255	-1	no_errors	ENST00000322623	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127816255	C	T	127816255	3	4	185	1	0	0	0	0	1	0	0	0	13782	826	29	1	482	1	RUVBL1	3	127816255	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3013386	127816255	70206175	358	34633										
ACAD9	28976	genome.wustl.edu	37	chr3	128615308	128615308	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttggctggcactgaggagcaGaaagccaaatacttgcctaa	11	9	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:128615308G>A	ENST00000308982.7	+	5	564	c.483G>A	c.(481-483)caG>caA	p.Q161Q		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	161						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.Q161Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGAGGAGCAGAAAGCCAAAT	0.512																																																	1	Substitution - coding silent(1)	lung(1)											94	85	88					3																	128615308		2203	4300	6503	SO:0001819	synonymous_variant	28976			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.483G>A	3.37:g.128615308G>A			D3DNB8|Q8WXX3	Silent	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.Q161	ENST00000308982.7	37	c.483	CCDS3053.1	3																																																																																			ACAD9	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase		0.512	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	G	NM_014049		128615308	1	no_errors	ENST00000308982	ensembl	human	known	70_37	silent	SNP	1.000	A	A	128615308	G	A	128615308	2	1	185	1	0	0	0	0	0	0	0	1	111	933	33	1		1	ACAD9	3	128615308	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	799053	128615308	69407122	359	34634										
CCDC48	79825	genome.wustl.edu	37	chr3	128751707	128751707	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtggagggccaggccgcctCtgacgaggaggaggtggagg	21	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:128751707C>G	ENST00000480450.1	+	4	1181	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	EFCC1_ENST00000436022.2_5'UTR			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	394							calcium ion binding (GO:0005509)										CAGGCCGCCTCTGACgaggag	0.667																																																	0													33	44	41					3																	128751707		692	1591	2283	SO:0001583	missense	79825			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1181C>G	3.37:g.128751707C>G	ENSP00000420075:p.Ser394Cys		A8MYE2	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.S394C	ENST00000480450.1	37	c.1181	CCDS3054.2	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220081	0.79464	.	.	ENSG00000114654	ENST00000480450	T	0.62941	-0.01	4.87	4.87	0.63330	.	.	.	.	.	T	0.76637	0.4015	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79572	-0.1748	9	0.87932	D	0	.	15.5064	0.75745	0.0:1.0:0.0:0.0	.	394	Q9HA90	CCD48_HUMAN	C	394	ENSP00000420075:S394C	ENSP00000420075:S394C	S	+	2	0	CCDC48	130234397	1.000000	0.71417	0.991000	0.47740	0.780000	0.44128	6.033000	0.70925	2.232000	0.73038	0.591000	0.81541	TCT	CCDC48	-	NULL		0.667	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC48	HGNC	protein_coding	OTTHUMT00000352832.1	C	NM_024768		128751707	1	no_errors	ENST00000480450	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	128751707	C	G	128751707	3	3	185	1	0	0	0	0	1	0	0	0	2824	913	32	1	1195	1	CCDC48	3	128751707	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	136399	128751707	69270723	360	34635										
COPG	22820	genome.wustl.edu	37	chr3	128971466	128971466	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctttcttgattaacacagGgggagcacctggggaccacg	12	10	2	1	rs535955599		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:128971466G>A	ENST00000314797.6	+	4	276	c.172G>A	c.(172-174)Ggg>Agg	p.G58R		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	58					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										ATTAACACAGGGGGAGCACCT	0.537																																																	0													90	86	87					3																	128971466		2203	4300	6503	SO:0001630	splice_region_variant	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.172-1G>A	3.37:g.128971466G>A			A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.G58R	ENST00000314797.6	37	c.172	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.144966	0.94603	.	.	ENSG00000181789	ENST00000314797	T	0.59638	0.25	5.07	5.07	0.68467	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.81470	0.4829	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86167	0.1597	9	.	.	.	-18.4717	15.9544	0.79871	0.0:0.0:1.0:0.0	.	58	Q9Y678	COPG_HUMAN	R	58	ENSP00000325002:G58R	.	G	+	1	0	COPG	130454156	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.642000	0.74329	2.372000	0.80975	0.491000	0.48974	GGG	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu		0.537	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	G	NM_016128	Missense_Mutation	128971466	1	no_errors	ENST00000314797	ensembl	human	known	70_37	missense	SNP	1.000	A	A	128971466	G	A	128971466	5	1	185	1	0	0	0	0	0	0	1	0	3736	1246	43	4	186	4	COPG	3	128971466	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	219759	128971466	69050964	361	34636										
COPG	22820	genome.wustl.edu	37	chr3	128984496	128984496	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcacatctgtgcgagttcatCgaggactgcgagttcacagt	11	10	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:128984496C>T	ENST00000314797.6	+	14	1433	c.1329C>T	c.(1327-1329)atC>atT	p.I443I		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	443					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GCGAGTTCATCGAGGACTGCG	0.532																																																	0													150	119	130					3																	128984496		2203	4300	6503	SO:0001819	synonymous_variant	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1329C>T	3.37:g.128984496C>T			A8K6M8|B3KMF6|Q54AC4	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.I443	ENST00000314797.6	37	c.1329	CCDS33851.1	3																																																																																			COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	C	NM_016128		128984496	1	no_errors	ENST00000314797	ensembl	human	known	70_37	silent	SNP	0.099	T	T	128984496	C	T	128984496	2	4	185	1	0	0	0	0	0	0	0	1	3736	874	31	1		1	COPG	3	128984496	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	13030	128984496	69037934	362	34637										
PLXND1	23129	genome.wustl.edu	37	chr3	129286613	129286613	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtcttctgccagtaacgctCagcacgtcggctcttggtac	10	14	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:129286613C>T	ENST00000324093.4	-	21	4079	c.3901G>A	c.(3901-3903)Gag>Aag	p.E1301K	PLXND1_ENST00000393239.1_Missense_Mutation_p.E1301K	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1301					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CAGTAACGCTCAGCACGTCGG	0.602																																					Ovarian(97;366 1484 3738 22084 39045)												0													56	49	52					3																	129286613		2203	4300	6503	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3901G>A	3.37:g.129286613C>T	ENSP00000317128:p.Glu1301Lys		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1301K	ENST00000324093.4	37	c.3901	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.152156	0.94645	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35421	1.37;1.31	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.66228	-0.5976	10	0.72032	D	0.01	.	18.9542	0.92653	0.0:1.0:0.0:0.0	.	1301	Q9Y4D7	PLXD1_HUMAN	K	1301	ENSP00000317128:E1301K;ENSP00000376931:E1301K	ENSP00000317128:E1301K	E	-	1	0	PLXND1	130769303	1.000000	0.71417	0.948000	0.38648	0.972000	0.66771	5.274000	0.65569	2.490000	0.84030	0.655000	0.94253	GAG	PLXND1	-	NULL		0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	C	NM_015103		129286613	-1	no_errors	ENST00000324093	ensembl	human	known	70_37	missense	SNP	0.998	T	T	129286613	C	T	129286613	3	4	185	1	0	0	0	0	1	0	0	0	12151	835	29	1	1940	1	PLXND1	3	129286613	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	302117	129286613	68735817	363	34638										
TMCC1	23023	genome.wustl.edu	37	chr3	129389253	129389253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgagagtctcaaaggattcCtctagtctggcctgggtttc	11	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:129389253C>T	ENST00000393238.3	-	4	1771	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	TMCC1_ENST00000426664.2_Silent_p.E363E|TMCC1_ENST00000432054.2_Silent_p.E153E|TMCC1_ENST00000329333.5_Silent_p.E298E	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	477						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAAAGGATTCCTCTAGTCTGG	0.453																																																	0													110	112	111					3																	129389253		2203	4300	6503	SO:0001819	synonymous_variant	23023			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1431G>A	3.37:g.129389253C>T			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	pfam_Predicted_TM_coiled-coil_2	p.E477	ENST00000393238.3	37	c.1431	CCDS33855.1	3																																																																																			TMCC1	-	pfam_Predicted_TM_coiled-coil_2		0.453	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	C	NM_015008		129389253	-1	no_errors	ENST00000393238	ensembl	human	known	70_37	silent	SNP	1.000	T	T	129389253	C	T	129389253	2	4	185	1	0	0	0	0	0	0	0	1	16022	680	24	4		4	TMCC1	3	129389253	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	102640	129389253	68633177	364	34639										
PIK3R4	30849	genome.wustl.edu	37	chr3	130463841	130463841	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcagaattaagcctgattttCagttcctccagctcttgttt	7	10	2	2	rs138406851		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:130463841C>G	ENST00000356763.3	-	2	779	c.222G>C	c.(220-222)ctG>ctC	p.L74L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCCTGATTTTCAGTTCCTCCA	0.453																																																	0													98	93	95					3																	130463841		2203	4300	6503	SO:0001819	synonymous_variant	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.222G>C	3.37:g.130463841C>G			Q2TBF4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L74	ENST00000356763.3	37	c.222	CCDS3067.1	3																																																																																			PIK3R4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.453	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	C	NM_014602		130463841	-1	no_errors	ENST00000356763	ensembl	human	known	70_37	silent	SNP	1.000	G	G	130463841	C	G	130463841	2	3	185	1	0	0	0	0	0	0	0	1	11945	813	29	1		1	PIK3R4	3	130463841	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1074588	130463841	67558589	365	34640										
PPP2R3A	5523	genome.wustl.edu	37	chr3	135822161	135822161	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacatcttctatgacactttCtttaatctggagaaatactt	4	9	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:135822161C>G	ENST00000264977.3	+	12	3782	c.3165C>G	c.(3163-3165)ttC>ttG	p.F1055L	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.F434L|PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.F319L	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1055					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGACACTTTCTTTAATCTGG	0.358																																																	0													92	92	92					3																	135822161		2203	4300	6503	SO:0001583	missense	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3165C>G	3.37:g.135822161C>G	ENSP00000264977:p.Phe1055Leu		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.F1055L	ENST00000264977.3	37	c.3165	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298987	0.60195	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.39592	1.07;1.07;1.07	5.47	5.47	0.80525	.	0.048891	0.85682	D	0.000000	T	0.44932	0.1317	N	0.25890	0.77	0.80722	D	1	P;P	0.52061	0.95;0.942	P;P	0.54346	0.652;0.749	T	0.11012	-1.0605	10	0.20046	T	0.44	.	18.6894	0.91577	0.0:1.0:0.0:0.0	.	434;1055	Q06190-2;Q06190	.;P2R3A_HUMAN	L	1055;319;434	ENSP00000264977:F1055L;ENSP00000419344:F319L;ENSP00000334748:F434L	ENSP00000264977:F1055L	F	+	3	2	PPP2R3A	137304851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.136000	0.50554	2.724000	0.93272	0.561000	0.74099	TTC	PPP2R3A	-	NULL		0.358	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	C	NM_002718		135822161	1	no_errors	ENST00000264977	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135822161	C	G	135822161	3	3	185	1	0	0	0	0	1	0	0	0	12415	912	32	1	3343	1	PPP2R3A	3	135822161	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5358320	135822161	62200269	366	34641										
NMNAT3	349565	genome.wustl.edu	37	chr3	139280016	139280016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatgtatgtggcactgatctCattctgcacaggctccttgg	11	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:139280016C>G	ENST00000296202.7	-	6	976	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000413939.2_Missense_Mutation_p.E110Q|NMNAT3_ENST00000406164.1_Missense_Mutation_p.E162Q|NMNAT3_ENST00000511444.1_3'UTR|NMNAT3_ENST00000406824.1_Missense_Mutation_p.E89Q|NMNAT3_ENST00000339837.5_Missense_Mutation_p.E162Q|RP11-319G6.1_ENST00000515247.1_RNA			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	199					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GCACTGATCTCATTCTGCACA	0.547																																																	0													190	144	160					3																	139280016		2203	4300	6503	SO:0001583	missense	349565			AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.595G>C	3.37:g.139280016C>G	ENSP00000296202:p.Glu199Gln		B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Missense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_NAMN_adtrnsfrase	p.E199Q	ENST00000296202.7	37	c.595		3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950342	0.92660	.	.	ENSG00000163864	ENST00000406164;ENST00000406824;ENST00000339837;ENST00000413939;ENST00000296202	D;D;D;D;D	0.97888	-4.16;-4.59;-4.16;-4.59;-4.16	5.52	5.52	0.82312	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.531771	0.21527	N	0.073102	D	0.97892	0.9307	L	0.59912	1.85	0.54753	D	0.999982	D;D	0.62365	0.979;0.991	P;P	0.57502	0.713;0.822	D	0.97734	1.0204	10	0.40728	T	0.16	-22.9213	18.4336	0.90636	0.0:1.0:0.0:0.0	.	110;199	B3KVR6;Q96T66	.;NMNA3_HUMAN	Q	162;89;162;110;199	ENSP00000384319:E162Q;ENSP00000384684:E89Q;ENSP00000340523:E162Q;ENSP00000412953:E110Q;ENSP00000296202:E199Q	ENSP00000296202:E199Q	E	-	1	0	NMNAT3	140762706	1.000000	0.71417	0.915000	0.36163	0.945000	0.59286	5.784000	0.68990	2.586000	0.87340	0.655000	0.94253	GAG	NMNAT3	-	pfam_Cytidylyltransf,tigrfam_NAMN_adtrnsfrase		0.547	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	NMNAT3	HGNC	protein_coding	OTTHUMT00000358469.1	C	NM_178177		139280016	-1	no_errors	ENST00000296202	ensembl	human	known	70_37	missense	SNP	0.997	G	G	139280016	C	G	139280016	3	3	185	1	0	0	0	0	1	0	0	0	10524	835	29	1	167	1	NMNAT3	3	139280016	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3457855	139280016	58742414	367	34642										
CLSTN2	64084	genome.wustl.edu	37	chr3	140281106	140281106	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacagtgagctccaccaacGacacctggatgccactaatt	7	15	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:140281106G>C	ENST00000458420.3	+	13	2358	c.2168G>C	c.(2167-2169)cGa>cCa	p.R723P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	723					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTCCACCAACGACACCTGGAT	0.517										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													110	103	105					3																	140281106		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2168G>C	3.37:g.140281106G>C	ENSP00000402460:p.Arg723Pro		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R723P	ENST00000458420.3	37	c.2168	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204627	0.79127	.	.	ENSG00000158258	ENST00000458420	T	0.32272	1.46	5.82	4.01	0.46588	.	0.155187	0.56097	D	0.000035	T	0.27559	0.0677	L	0.54323	1.7	0.33661	D	0.609647	P	0.48162	0.906	B	0.42462	0.388	T	0.43909	-0.9362	9	.	.	.	-1.5336	7.2617	0.26207	0.2524:0.0:0.7476:0.0	.	723	Q9H4D0	CSTN2_HUMAN	P	723	ENSP00000402460:R723P	.	R	+	2	0	CLSTN2	141763796	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	2.626000	0.46460	1.462000	0.47948	0.655000	0.94253	CGA	CLSTN2	-	NULL		0.517	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	G	NM_022131		140281106	1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	1.000	C	C	140281106	G	C	140281106	3	2	185	1	0	0	0	0	1	0	0	0	3567	1058	37	1	2218	1	CLSTN2	3	140281106	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1001090	140281106	57741324	368	34643										
RASA2	5922	genome.wustl.edu	37	chr3	141289800	141289800	+	Missense_Mutation	SNP	G	G	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaaacaagtcatccaaaactGatgacctggggtctcttcga							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:141289800G>A	ENST00000452898.1	+	10	945	c.910G>A	c.(910-912)Gat>Aat	p.D304N	RASA2_ENST00000286364.3_Missense_Mutation_p.D304N	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	304					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATCCAAAACTGATGACCTGGG	0.378																																																	0													48	49	49					3																	141289800		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.910G>A	3.37:g.141289800G>A	ENSP00000391677:p.Asp304Asn		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.D304N	ENST00000452898.1	37	c.910		3	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366830	0.82463	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.70869	-0.52;-0.52	5.46	5.46	0.80206	Ras GTPase-activating protein (1);	0.051007	0.85682	D	0.000000	T	0.79269	0.4417	L	0.46157	1.445	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.992	P;D;P	0.66979	0.889;0.948;0.889	T	0.74166	-0.3753	10	0.23302	T	0.38	.	19.2936	0.94112	0.0:0.0:1.0:0.0	.	304;304;304	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	N	304	ENSP00000286364:D304N;ENSP00000391677:D304N	ENSP00000286364:D304N	D	+	1	0	RASA2	142772490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.110000	0.94302	2.580000	0.87095	0.650000	0.86243	GAT	RASA2	-	smart_RasGAP		0.378	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141289800	1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141289800	G	A	141289800	3	1	185	1	0	0	0	0	1	0	0	0	13091	1290	45	1	948	1	RASA2	3	141289800	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1008694	141289800	56732630	369	34644	225	2								
RASA2	5922	genome.wustl.edu	37	chr3	141289803	141289803	+	Missense_Mutation	SNP	G	G	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acaagtcatccaaaactgatGacctggggtctcttcgatta							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:141289803G>A	ENST00000452898.1	+	10	948	c.913G>A	c.(913-915)Gac>Aac	p.D305N	RASA2_ENST00000286364.3_Missense_Mutation_p.D305N	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	305					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CAAAACTGATGACCTGGGGTC	0.378																																																	0													47	48	48					3																	141289803		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.913G>A	3.37:g.141289803G>A	ENSP00000391677:p.Asp305Asn		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.D305N	ENST00000452898.1	37	c.913		3	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489138	0.84962	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.70749	-0.51;-0.51	5.46	5.46	0.80206	Ras GTPase-activating protein (1);	0.050081	0.85682	D	0.000000	T	0.81336	0.4801	L	0.58925	1.835	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.70016	0.928;0.967;0.928	T	0.77000	-0.2750	10	0.25106	T	0.35	.	19.2936	0.94112	0.0:0.0:1.0:0.0	.	305;305;305	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	N	305	ENSP00000286364:D305N;ENSP00000391677:D305N	ENSP00000286364:D305N	D	+	1	0	RASA2	142772493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.110000	0.94302	2.580000	0.87095	0.650000	0.86243	GAC	RASA2	-	smart_RasGAP		0.378	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141289803	1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141289803	G	A	141289803	3	1	185	1	0	0	0	0	1	0	0	0	13091	1290	45	1	951	1	RASA2	3	141289803	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3	141289803	56732627	370	34645	225	2								
RASA2	5922	genome.wustl.edu	37	chr3	141290341	141290341	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacgactgctgctgcaccatGataaacttgttccttttgcc	7	12	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:141290341G>A	ENST00000452898.1	+	11	1149	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	RASA2_ENST00000286364.3_Missense_Mutation_p.D372N	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	372	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCTGCACCATGATAAACTTGT	0.358																																																	0													173	164	167					3																	141290341		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1114G>A	3.37:g.141290341G>A	ENSP00000391677:p.Asp372Asn		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.D372N	ENST00000452898.1	37	c.1114		3	.	.	.	.	.	.	.	.	.	.	G	7.614	0.675479	0.14841	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.15487	2.42;2.42	5.44	3.36	0.38483	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.288498	0.37577	N	0.002036	T	0.04634	0.0126	N	0.01352	-0.895	0.36366	D	0.861009	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.24225	-1.0166	10	0.21014	T	0.42	.	4.8306	0.13437	0.2557:0.3737:0.3706:0.0	.	372;372;372	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	N	372	ENSP00000286364:D372N;ENSP00000391677:D372N	ENSP00000286364:D372N	D	+	1	0	RASA2	142773031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.537000	0.53590	1.258000	0.44101	0.484000	0.47621	GAT	RASA2	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.358	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141290341	1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141290341	G	A	141290341	3	1	185	1	0	0	0	0	1	0	0	0	13091	1290	45	1	1156	1	RASA2	3	141290341	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	538	141290341	56732089	371	34646										
RASA2	5922	genome.wustl.edu	37	chr3	141291503	141291503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggctacccgatgtctggatGagatgatgaaaatagtggga	14	5	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:141291503G>A	ENST00000452898.1	+	12	1257	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	RASA2_ENST00000286364.3_Missense_Mutation_p.E408K	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	408	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATGTCTGGATGAGATGATGAA	0.363																																																	0													111	111	111					3																	141291503		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1222G>A	3.37:g.141291503G>A	ENSP00000391677:p.Glu408Lys		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.E408K	ENST00000452898.1	37	c.1222		3	.	.	.	.	.	.	.	.	.	.	G	36	5.815700	0.96982	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.80653	-1.4;-1.4	5.76	5.76	0.90799	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.055327	0.64402	D	0.000001	D	0.88683	0.6503	L	0.58669	1.825	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.75484	0.986;0.959;0.976	D	0.88609	0.3155	10	0.66056	D	0.02	.	19.9857	0.97347	0.0:0.0:1.0:0.0	.	408;408;408	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	K	408	ENSP00000286364:E408K;ENSP00000391677:E408K	ENSP00000286364:E408K	E	+	1	0	RASA2	142774193	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.706000	0.92434	0.655000	0.94253	GAG	RASA2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.363	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141291503	1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A	A	141291503	G	A	141291503	3	1	185	1	0	0	0	0	1	0	0	0	13091	1291	45	1	1268	1	RASA2	3	141291503	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1162	141291503	56730927	372	34647										
XRN1	54464	genome.wustl.edu	37	chr3	142074286	142074286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtattgcatctttccagatCcctgtaaggactgccaaatg	8	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:142074286C>T	ENST00000264951.4	-	32	3842	c.3725G>A	c.(3724-3726)gGa>gAa	p.G1242E	XRN1_ENST00000392981.2_Missense_Mutation_p.G1242E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1242					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTTTCCAGATCCCTGTAAGGA	0.303																																																	0													89	93	92					3																	142074286		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3725G>A	3.37:g.142074286C>T	ENSP00000264951:p.Gly1242Glu		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.G1242E	ENST00000264951.4	37	c.3725	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013939	0.35511	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.27890	1.64;1.64	4.77	0.85	0.18980	.	0.640885	0.16563	N	0.208958	T	0.14399	0.0348	L	0.27053	0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.29088	-1.0023	10	0.02654	T	1	-2.7391	5.3739	0.16154	0.0:0.568:0.1342:0.2978	.	1242;1242	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	E	1242	ENSP00000264951:G1242E;ENSP00000376707:G1242E	ENSP00000264951:G1242E	G	-	2	0	XRN1	143556976	0.027000	0.19231	0.975000	0.42487	0.966000	0.64601	0.269000	0.18589	-0.057000	0.13199	0.460000	0.39030	GGA	XRN1	-	pirsf_5_3_exoribonuclease_1		0.303	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	C	NM_019001		142074286	-1	no_errors	ENST00000264951	ensembl	human	known	70_37	missense	SNP	0.997	T	T	142074286	C	T	142074286	3	4	185	1	0	0	0	0	1	0	0	0	17490	855	30	1	1439	1	XRN1	3	142074286	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	782783	142074286	55948144	373	34648										
CPA3	1359	genome.wustl.edu	37	chr3	148596241	148596241	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaacagaatcttgattcatGatctacaagaagagattgag	8	6	3	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:148596241G>T	ENST00000296046.3	+	4	335	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	95					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTGATTCATGATCTACAAGA	0.338																																																	0													76	79	78					3																	148596241		2203	4295	6498	SO:0001583	missense	1359				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.283G>T	3.37:g.148596241G>T	ENSP00000296046:p.Asp95Tyr		Q96E94	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.D95Y	ENST00000296046.3	37	c.283	CCDS3138.1	3	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086655	0.55861	.	.	ENSG00000163751	ENST00000296046	T	0.27256	1.68	5.05	4.17	0.49024	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.054439	0.64402	D	0.000001	T	0.50000	0.1590	M	0.80183	2.485	0.51482	D	0.999929	D	0.89917	1.0	D	0.85130	0.997	T	0.54316	-0.8312	10	0.87932	D	0	.	9.8475	0.41037	0.1659:0.0:0.8341:0.0	.	95	P15088	CBPA3_HUMAN	Y	95	ENSP00000296046:D95Y	ENSP00000296046:D95Y	D	+	1	0	CPA3	150078931	0.999000	0.42202	0.975000	0.42487	0.994000	0.84299	1.747000	0.38298	1.491000	0.48482	0.655000	0.94253	GAT	CPA3	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.338	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA3	HGNC	protein_coding	OTTHUMT00000355974.1	G	NM_001870		148596241	1	no_errors	ENST00000296046	ensembl	human	known	70_37	missense	SNP	0.994	T	T	148596241	G	T	148596241	3	4	185	1	0	0	0	0	1	0	0	0	3796	1290	45	3	297	3	CPA3	3	148596241	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6521955	148596241	49426189	374	34649										
GYG1	2992	genome.wustl.edu	37	chr3	148714544	148714544	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcaggtcctagcaaatattGatgatctttttgacagagaa	8	6	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:148714544G>A	ENST00000345003.4	+	4	634	c.334G>A	c.(334-336)Gat>Aat	p.D112N	GYG1_ENST00000296048.6_Missense_Mutation_p.D112N|GYG1_ENST00000483267.1_Missense_Mutation_p.D112N|GYG1_ENST00000484197.1_Missense_Mutation_p.D112N	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	112					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCAAATATTGATGATCTTTT	0.433																																																	0													85	84	84					3																	148714544		2203	4300	6503	SO:0001583	missense	2992			AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4699	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	603942	"glycogenin"	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.334G>A	3.37:g.148714544G>A	ENSP00000340736:p.Asp112Asn		D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.D112N	ENST00000345003.4	37	c.334	CCDS3139.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.625892	0.96671	.	.	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000483267;ENST00000484197;ENST00000492285;ENST00000461191	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	H	0.95365	3.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90475	0.4456	10	0.87932	D	0	-32.0382	20.7147	0.99709	0.0:0.0:1.0:0.0	.	112;112;112;112	G5E9W8;D3DNH0;P46976-2;P46976	.;.;.;GLYG_HUMAN	N	112;112;112;112;66;112	ENSP00000340736:D112N;ENSP00000296048:D112N;ENSP00000419499:D112N;ENSP00000420683:D112N;ENSP00000418297:D66N;ENSP00000420247:D112N	ENSP00000296048:D112N	D	+	1	0	GYG1	150197234	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.438000	0.97539	2.902000	0.99343	0.650000	0.86243	GAT	GYG1	-	pfam_Glyco_trans_8		0.433	GYG1-001	KNOWN	basic|CCDS	protein_coding	GYG1	HGNC	protein_coding	OTTHUMT00000356046.1	G	NM_004130		148714544	1	no_errors	ENST00000345003	ensembl	human	known	70_37	missense	SNP	1.000	A	A	148714544	G	A	148714544	3	1	185	1	0	0	0	0	1	0	0	0	6925	1290	45	1	348	1	GYG1	3	148714544	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	118303	148714544	49307886	375	34650										
SERP1	27230	genome.wustl.edu	37	chr3	150263566	150263566	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctcttcgggggcatttctCtgcaaaagcgaaaatccacc	8	12	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:150263566C>T	ENST00000479209.1	-	3	1357		c.e3-1		EIF2A_ENST00000460851.1_5'Flank|SERP1_ENST00000491660.1_Splice_Site|SERP1_ENST00000239944.2_Splice_Site|EIF2A_ENST00000273435.5_5'Flank|EIF2A_ENST00000487799.1_5'Flank|SERP1_ENST00000487153.1_Intron|EIF2A_ENST00000406576.3_5'Flank			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGGCATTTCTCTGCAAAAGCG	0.572																																																	0													70	73	72					3																	150263566		2203	4300	6503	SO:0001630	splice_region_variant	27230			AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"ribosome associated membrane protein 4"					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769	ENST00000479209.1:c.85-1G>A	3.37:g.150263566C>T			D3DNI6	Splice_Site	SNP	-	e2-1	ENST00000479209.1	37	c.85-1	CCDS3150.1	3	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119962	0.77323	.	.	ENSG00000120742	ENST00000239944;ENST00000479209;ENST00000491660	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9806	0.71309	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERP1	151746256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.312000	0.72840	2.043000	0.60533	0.557000	0.71058	.	SERP1	-	-		0.572	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERP1	HGNC	protein_coding	OTTHUMT00000357239.1	C	NM_014445	Intron	150263566	-1	no_errors	ENST00000239944	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	150263566	C	T	150263566	5	4	185	1	0	0	0	0	0	0	1	0	14114	927	32	1	124	1	SERP1	3	150263566	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1549022	150263566	47758864	376	34651										
IGSF10	285313	genome.wustl.edu	37	chr3	151154847	151154847	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccttacagatatagtttcctCtgtcataagctgttgcttct	6	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:151154847C>G	ENST00000282466.3	-	6	7501	c.7502G>C	c.(7501-7503)aGa>aCa	p.R2501T	IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2501	Ig-like C2-type 11.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGTTTCCTCTGTCATAAGC	0.393																																																	0													155	150	152					3																	151154847		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7502G>C	3.37:g.151154847C>G	ENSP00000282466:p.Arg2501Thr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R2501T	ENST00000282466.3	37	c.7502	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479231	0.63849	.	.	ENSG00000152580	ENST00000282466	T	0.66280	-0.2	5.3	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.139684	0.33457	N	0.004888	T	0.67505	0.2900	L	0.41027	1.25	0.50171	D	0.999857	D;D	0.76494	0.999;0.995	D;D	0.71870	0.975;0.928	T	0.62914	-0.6753	10	0.22109	T	0.4	.	11.5878	0.50929	0.0:0.806:0.1245:0.0695	.	2501;528	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	T	2501	ENSP00000282466:R2501T	ENSP00000282466:R2501T	R	-	2	0	IGSF10	152637537	0.554000	0.26522	0.956000	0.39512	0.945000	0.59286	2.450000	0.44943	1.334000	0.45468	0.655000	0.94253	AGA	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.393	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151154847	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	1.000	G	G	151154847	C	G	151154847	3	3	185	1	0	0	0	0	1	0	0	0	7617	913	32	1	373	1	IGSF10	3	151154847	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	891281	151154847	46867583	377	34652										
IGSF10	285313	genome.wustl.edu	37	chr3	151166624	151166624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctagtatcagaggagaatcaCtgtacaaagccaaaatttgc	8	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:151166624C>G	ENST00000282466.3	-	4	1144	c.1145G>C	c.(1144-1146)aGt>aCt	p.S382T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	382					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGAGAATCACTGTACAAAGC	0.393																																																	0													85	79	81					3																	151166624		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1145G>C	3.37:g.151166624C>G	ENSP00000282466:p.Ser382Thr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S382T	ENST00000282466.3	37	c.1145	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961153	0.74016	.	.	ENSG00000152580	ENST00000282466	D	0.83506	-1.73	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000027	D	0.90741	0.7094	M	0.72894	2.215	0.51012	D	0.999904	D	0.89917	1.0	D	0.83275	0.996	D	0.90257	0.4298	10	0.46703	T	0.11	.	19.113	0.93326	0.0:1.0:0.0:0.0	.	382	Q6WRI0	IGS10_HUMAN	T	382	ENSP00000282466:S382T	ENSP00000282466:S382T	S	-	2	0	IGSF10	152649314	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.487000	0.81328	2.524000	0.85096	0.650000	0.86243	AGT	IGSF10	-	NULL		0.393	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151166624	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	1.000	G	G	151166624	C	G	151166624	3	3	185	1	0	0	0	0	1	0	0	0	7617	565	20	4	6786	4	IGSF10	3	151166624	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	11777	151166624	46855806	378	34653										
OTOL1	131149	genome.wustl.edu	37	chr3	161214769	161214769	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagaagaagaagaaaccctCttcacagaaatggctgaaat	8	9	2	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:161214769C>G	ENST00000327928.4	+	1	174	c.174C>G	c.(172-174)ctC>ctG	p.L58L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	58						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGAAACCCTCTTCACAGAAA	0.473																																																	0													110	109	109					3																	161214769		1867	4101	5968	SO:0001819	synonymous_variant	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.174C>G	3.37:g.161214769C>G				Silent	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L58	ENST00000327928.4	37	c.174	CCDS46948.1	3																																																																																			OTOL1	-	NULL		0.473	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	HGNC	protein_coding	OTTHUMT00000353184.1	C	NM_001080440		161214769	1	no_errors	ENST00000327928	ensembl	human	known	70_37	silent	SNP	0.000	G	G	161214769	C	G	161214769	2	3	185	1	0	0	0	0	0	0	0	1	11328	900	32	1		1	OTOL1	3	161214769	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10048145	161214769	36807661	379	34654										
SLITRK3	22865	genome.wustl.edu	37	chr3	164907799	164907799	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagttctgtcttcctgatttCtcgtaggtcctttccatgga	9	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:164907799C>T	ENST00000475390.1	-	2	1263	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E274K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	274	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCCTGATTTCTCGTAGGTCC	0.483										HNSCC(40;0.11)																																							0													120	124	122					3																	164907799		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.820G>A	3.37:g.164907799C>T	ENSP00000420091:p.Glu274Lys		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E274K	ENST00000475390.1	37	c.820	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296243	0.81025	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.56776	0.44;0.44	5.61	5.61	0.85477	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38837	N	0.001546	T	0.63283	0.2498	M	0.68728	2.09	0.58432	D	0.999999	D	0.55172	0.97	P	0.49332	0.607	T	0.66756	-0.5843	10	0.62326	D	0.03	-15.6531	19.6276	0.95684	0.0:1.0:0.0:0.0	.	274	O94933	SLIK3_HUMAN	K	274	ENSP00000420091:E274K;ENSP00000241274:E274K	ENSP00000241274:E274K	E	-	1	0	SLITRK3	166390493	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	GAA	SLITRK3	-	smart_Cys-rich_flank_reg_C		0.483	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	C	NM_014926		164907799	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	missense	SNP	1.000	T	T	164907799	C	T	164907799	3	4	185	1	0	0	0	0	1	0	0	0	14774	922	32	1	2117	1	SLITRK3	3	164907799	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3693030	164907799	33114631	380	34655										
MECOM	2122	genome.wustl.edu	37	chr3	168819948	168819948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggcactgactgtaagagctCactggcctcaggtttcaggg	14	10	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:168819948C>T	ENST00000464456.1	-	9	3280	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	MECOM_ENST00000433243.2_Missense_Mutation_p.E704K|MECOM_ENST00000264674.3_Missense_Mutation_p.E768K|MECOM_ENST00000468789.1_Missense_Mutation_p.E703K|MECOM_ENST00000460814.1_Missense_Mutation_p.E694K|MECOM_ENST00000494292.1_Missense_Mutation_p.E882K|MECOM_ENST00000392736.3_Missense_Mutation_p.E703K|MECOM_ENST00000472280.1_Missense_Mutation_p.E704K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTAAGAGCTCACTGGCCTCA	0.507																																																	0													86	77	80					3																	168819948		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2080G>A	3.37:g.168819948C>T	ENSP00000419770:p.Glu694Lys		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E882K	ENST00000464456.1	37	c.2644	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581107	0.46006	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05786	3.46;3.46;3.39;3.56;3.39;3.46;3.39;3.56	5.45	5.45	0.79879	.	0.315207	0.29028	N	0.013375	T	0.06416	0.0165	N	0.22421	0.69	0.51482	D	0.999925	B;B;B;B;B	0.28850	0.225;0.152;0.144;0.185;0.072	B;B;B;B;B	0.29598	0.104;0.036;0.048;0.079;0.015	T	0.48525	-0.9028	10	0.17832	T	0.49	-17.4907	19.688	0.95987	0.0:1.0:0.0:0.0	.	891;695;882;768;703	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	768;703;694;704;882;703;694;704	ENSP00000264674:E768K;ENSP00000376493:E703K;ENSP00000419770:E694K;ENSP00000420048:E704K;ENSP00000417899:E882K;ENSP00000419995:E703K;ENSP00000420466:E694K;ENSP00000394302:E704K	ENSP00000264674:E768K	E	-	1	0	MECOM	170302642	0.992000	0.36948	1.000000	0.80357	0.691000	0.40173	2.924000	0.48876	2.730000	0.93505	0.655000	0.94253	GAG	MECOM	-	NULL		0.507	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	C	NM_005241, NM_004991		168819948	-1	no_errors	ENST00000494292	ensembl	human	known	70_37	missense	SNP	1.000	T	T	168819948	C	T	168819948	3	4	185	1	0	0	0	0	1	0	0	0	9445	835	29	1	1076	1	MECOM	3	168819948	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3912149	168819948	29202482	381	34656										
MECOM	2122	genome.wustl.edu	37	chr3	168834457	168834457	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgcacttgatttgggttctGcaatcagcatgcatgcgctt	10	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:168834457G>C	ENST00000464456.1	-	7	1839	c.639C>G	c.(637-639)tgC>tgG	p.C213W	MECOM_ENST00000433243.2_Missense_Mutation_p.C214W|MECOM_ENST00000264674.3_Missense_Mutation_p.C278W|MECOM_ENST00000468789.1_Missense_Mutation_p.C213W|MECOM_ENST00000460814.1_Missense_Mutation_p.C213W|MECOM_ENST00000392736.3_Missense_Mutation_p.C213W|MECOM_ENST00000494292.1_Missense_Mutation_p.C401W|MECOM_ENST00000472280.1_Missense_Mutation_p.C214W	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTGGGTTCTGCAATCAGCAT	0.428																																																	0													448	367	394					3																	168834457		2203	4300	6503	SO:0001583	missense	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.639C>G	3.37:g.168834457G>C	ENSP00000419770:p.Cys213Trp		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.C401W	ENST00000464456.1	37	c.1203	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331900	0.60853	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.60171	0.21;3.33;3.3;0.21;3.26;3.33;3.29;0.21	6.03	6.03	0.97812	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.71626	0.3362	L	0.39245	1.2	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.994;0.996;0.998;0.996	T	0.71833	-0.4473	10	0.87932	D	0	-10.0323	20.5568	0.99304	0.0:0.0:1.0:0.0	.	401;214;401;278;213	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	W	278;213;213;214;401;213;213;214	ENSP00000264674:C278W;ENSP00000376493:C213W;ENSP00000419770:C213W;ENSP00000420048:C214W;ENSP00000417899:C401W;ENSP00000419995:C213W;ENSP00000420466:C213W;ENSP00000394302:C214W	ENSP00000264674:C278W	C	-	3	2	MECOM	170317151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.726000	0.68515	2.861000	0.98227	0.655000	0.94253	TGC	MECOM	-	pfscan_Znf_C2H2		0.428	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	G	NM_005241, NM_004991		168834457	-1	no_errors	ENST00000494292	ensembl	human	known	70_37	missense	SNP	1.000	C	C	168834457	G	C	168834457	3	2	185	1	0	0	0	0	1	0	0	0	9445	1311	46	4	2556	4	MECOM	3	168834457	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	14509	168834457	29187973	382	34657										
PRKCI	5584	genome.wustl.edu	37	chr3	169985710	169985710	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actctgtcttcagaatccatCtaccgtagaggtgcacgccg	9	13	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:169985710C>G	ENST00000295797.4	+	5	677	c.372C>G	c.(370-372)atC>atG	p.I124M		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	124	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CAGAATCCATCTACCGTAGAG	0.358																																																	0													54	50	52					3																	169985710		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.372C>G	3.37:g.169985710C>G	ENSP00000295797:p.Ile124Met		D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.I124M	ENST00000295797.4	37	c.372	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376834	0.42105	.	.	ENSG00000163558	ENST00000295797	D	0.84298	-1.83	4.84	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	L	0.56769	1.78	0.58432	D	0.999996	B	0.32203	0.36	B	0.28465	0.09	T	0.64761	-0.6331	9	.	.	.	.	3.4391	0.07457	0.2681:0.3728:0.0:0.3591	.	124	P41743	KPCI_HUMAN	M	124	ENSP00000295797:I124M	.	I	+	3	3	PRKCI	171468404	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	1.076000	0.30729	0.150000	0.19136	0.467000	0.42956	ATC	PRKCI	-	pirsf_PKC_zeta		0.358	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	C	NM_002740		169985710	1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	0.999	G	G	169985710	C	G	169985710	3	3	185	1	0	0	0	0	1	0	0	0	12541	903	32	1	390	1	PRKCI	3	169985710	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1151253	169985710	28036720	383	34658										
SKIL	6498	genome.wustl.edu	37	chr3	170078591	170078591	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggaatctatttcttgttttCaagttggaggagaaaagaga	12	3	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:170078591C>G	ENST00000458537.3	+	1	1181	c.472C>G	c.(472-474)Caa>Gaa	p.Q158E	SKIL_ENST00000426052.2_Missense_Mutation_p.Q138E|SKIL_ENST00000259119.4_Missense_Mutation_p.Q158E|SKIL_ENST00000413427.2_Missense_Mutation_p.Q158E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	158					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTCTTGTTTTCAAGTTGGAGG	0.433																																																	0													116	127	123					3																	170078591		2203	4300	6503	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.472C>G	3.37:g.170078591C>G	ENSP00000415243:p.Gln158Glu		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.Q158E	ENST00000458537.3	37	c.472	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040269	0.35989	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.42	5.42	0.78866	DNA binding domain, putative (1);Transforming protein Ski (2);	0.263554	0.37393	N	0.002107	T	0.68476	0.3005	N	0.08118	0	0.34589	D	0.715241	P;P	0.39094	0.558;0.659	B;B	0.38755	0.127;0.281	T	0.77861	-0.2430	10	0.44086	T	0.13	-14.453	12.4102	0.55464	0.2833:0.7167:0.0:0.0	.	158;158	P12757-3;P12757	.;SKIL_HUMAN	E	158;138;158;158	ENSP00000259119:Q158E;ENSP00000406520:Q138E;ENSP00000400193:Q158E;ENSP00000415243:Q158E	ENSP00000259119:Q158E	Q	+	1	0	SKIL	171561285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.257000	0.65473	2.565000	0.86533	0.579000	0.79373	CAA	SKIL	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put		0.433	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	C	NM_005414		170078591	1	no_errors	ENST00000259119	ensembl	human	known	70_37	missense	SNP	1.000	G	G	170078591	C	G	170078591	3	3	185	1	0	0	0	0	1	0	0	0	14388	827	29	1	474	1	SKIL	3	170078591	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	92881	170078591	27943839	384	34659										
TNFSF10	8743	genome.wustl.edu	37	chr3	172224398	172224398	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagctcaaatattcccccttGatagatggaatagagtccat	7	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:172224398G>T	ENST00000241261.2	-	5	852	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	244					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATTCCCCCTTGATAGATGGAA	0.358																																																	0													152	148	149					3																	172224398		2203	4300	6503	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.730C>A	3.37:g.172224398G>T	ENSP00000241261:p.Gln244Lys		A1Y9B3	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF	p.Q244K	ENST00000241261.2	37	c.730	CCDS3219.1	3	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213744	0.58452	.	.	ENSG00000121858	ENST00000241261	D	0.95035	-3.59	5.68	5.68	0.88126	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97606	1.0126	10	0.59425	D	0.04	-19.2445	20.14	0.98056	0.0:0.0:1.0:0.0	.	244	P50591	TNF10_HUMAN	K	244	ENSP00000241261:Q244K	ENSP00000241261:Q244K	Q	-	1	0	TNFSF10	173707092	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	8.208000	0.89748	2.837000	0.97791	0.591000	0.81541	CAA	TNFSF10	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF		0.358	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF10	HGNC	protein_coding	OTTHUMT00000346601.1	G			172224398	-1	no_errors	ENST00000241261	ensembl	human	known	70_37	missense	SNP	1.000	T	T	172224398	G	T	172224398	3	4	185	1	0	0	0	0	1	0	0	0	16331	1299	45	3	119	3	TNFSF10	3	172224398	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2145807	172224398	25798032	385	34660										
PEX5L	51555	genome.wustl.edu	37	chr3	179533760	179533760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaaatgctccaggccagtcCttgaaggggttttcagtgtg	12	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:179533760C>T	ENST00000467460.1	-	10	1302	c.972G>A	c.(970-972)aaG>aaA	p.K324K	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000263962.8_Silent_p.K322K|PEX5L_ENST00000468741.1_Silent_p.K132K|PEX5L_ENST00000472994.1_Silent_p.K265K|PEX5L_ENST00000476138.1_Silent_p.K281K|PEX5L_ENST00000392649.3_Silent_p.K216K|PEX5L_ENST00000485199.1_Silent_p.K289K|PEX5L_ENST00000464614.1_Silent_p.K216K|PEX5L_ENST00000465751.1_Silent_p.K300K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	324					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGGCCAGTCCTTGAAGGGGT	0.453																																																	0													89	88	88					3																	179533760		2203	4300	6503	SO:0001819	synonymous_variant	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.972G>A	3.37:g.179533760C>T			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K324	ENST00000467460.1	37	c.972	CCDS3236.1	3																																																																																			PEX5L	-	NULL		0.453	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179533760	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	silent	SNP	1.000	T	T	179533760	C	T	179533760	2	4	185	1	0	0	0	0	0	0	0	1	11773	680	24	4		4	PEX5L	3	179533760	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7309362	179533760	18488670	386	34661										
HTR3D	200909	genome.wustl.edu	37	chr3	183756706	183756706	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacgccctgctcttccgcctCtacctgctcttcatggcctc	7	19	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:183756706C>G	ENST00000382489.3	+	8	1308	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	HTR3D_ENST00000428798.2_Silent_p.L386L|HTR3D_ENST00000453435.1_Silent_p.L215L|HTR3D_ENST00000334128.2_Silent_p.L261L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	436					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.L261L(1)|p.L436L(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TCTTCCGCCTCTACCTGCTCT	0.587																																																	2	Substitution - coding silent(2)	lung(2)											171	157	162					3																	183756706		2203	4300	6503	SO:0001819	synonymous_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1308C>G	3.37:g.183756706C>G			C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.L436	ENST00000382489.3	37	c.1308	CCDS54685.1	3																																																																																			HTR3D	-	superfamily_Neurotrans-gated_channel_TM		0.587	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	C	NM_182537		183756706	1	no_errors	ENST00000382489	ensembl	human	known	70_37	silent	SNP	0.229	G	G	183756706	C	G	183756706	2	3	185	1	0	0	0	0	0	0	0	1	7467	900	32	1		1	HTR3D	3	183756706	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4222946	183756706	14265724	387	34662										
ABCF3	55324	genome.wustl.edu	37	chr3	183905482	183905482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaagaagttagagaaggccGaggctcgacttaaggcaaag	13	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:183905482G>A	ENST00000429586.2	+	5	564	c.379G>A	c.(379-381)Gag>Aag	p.E127K	ABCF3_ENST00000292808.5_Missense_Mutation_p.E121K|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	127					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGAAGGCCGAGGCTCGACT	0.522																																																	0													83	75	78					3																	183905482		2203	4300	6503	SO:0001583	missense	55324			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.379G>A	3.37:g.183905482G>A	ENSP00000411471:p.Glu127Lys		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E127K	ENST00000429586.2	37	c.379	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337315	0.81911	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92647	-3.08;-3.08	4.57	4.57	0.56435	.	0.121851	0.53938	N	0.000045	D	0.91365	0.7276	M	0.73319	2.225	0.80722	D	1	B;P	0.35551	0.439;0.509	B;B	0.35182	0.197;0.091	D	0.92411	0.5937	10	0.72032	D	0.01	-18.0815	16.3557	0.83234	0.0:0.0:1.0:0.0	.	121;127	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	K	127;121	ENSP00000411471:E127K;ENSP00000292808:E121K	ENSP00000292808:E121K	E	+	1	0	ABCF3	185388176	1.000000	0.71417	0.987000	0.45799	0.906000	0.53458	9.256000	0.95535	2.098000	0.63641	0.462000	0.41574	GAG	ABCF3	-	NULL		0.522	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	HGNC	protein_coding	OTTHUMT00000346047.1	G	NM_018358		183905482	1	no_errors	ENST00000429586	ensembl	human	known	70_37	missense	SNP	0.999	A	A	183905482	G	A	183905482	3	1	185	1	0	0	0	0	1	0	0	0	67	1059	37	1	397	1	ABCF3	3	183905482	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	148776	183905482	14116948	388	34663										
EIF4G1	1981	genome.wustl.edu	37	chr3	184045425	184045425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccccctgaaggcggctctctCtgaggaggagttagagaaga	14	10	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184045425C>G	ENST00000346169.2	+	25	3984	c.3713C>G	c.(3712-3714)tCt>tGt	p.S1238C	EIF4G1_ENST00000427845.1_Missense_Mutation_p.S1152C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S1042C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S1199C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S1245C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S1245C|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S1245C|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S1239C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S1238C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S1074C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S1043C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S1075C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S1151C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S1198C	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1238					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCGGCTCTCTCTGAGGAGGAG	0.512																																																	0													69	76	73					3																	184045425		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3713C>G	3.37:g.184045425C>G	ENSP00000316879:p.Ser1238Cys		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.S1245C	ENST00000346169.2	37	c.3734	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110295	0.56398	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.2	5.2	0.72013	Armadillo-type fold (1);	0.367909	0.31358	N	0.007791	T	0.63628	0.2527	L	0.58810	1.83	0.48975	D	0.999738	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60173	0.87;0.87;0.87	T	0.65569	-0.6136	10	0.66056	D	0.02	-6.7811	18.9316	0.92568	0.0:1.0:0.0:0.0	.	1245;1239;1238	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	C	1238;1198;1151;1245;1074;1245;1152;1239;1238;1245;1199;1075;1043;1042	ENSP00000316879:S1238C;ENSP00000391935:S1198C;ENSP00000376320:S1151C;ENSP00000371767:S1245C;ENSP00000317600:S1074C;ENSP00000338020:S1245C;ENSP00000407682:S1152C;ENSP00000343450:S1239C;ENSP00000323737:S1238C;ENSP00000416255:S1245C;ENSP00000395974:S1199C;ENSP00000399858:S1075C;ENSP00000411826:S1043C;ENSP00000404754:S1042C	ENSP00000323737:S1238C	S	+	2	0	EIF4G1	185528119	0.997000	0.39634	0.911000	0.35937	0.421000	0.31385	3.268000	0.51585	2.691000	0.91804	0.655000	0.94253	TCT	EIF4G1	-	superfamily_ARM-type_fold		0.512	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	C	NM_182917		184045425	1	no_errors	ENST00000352767	ensembl	human	known	70_37	missense	SNP	0.981	G	G	184045425	C	G	184045425	3	3	185	1	0	0	0	0	1	0	0	0	5048	913	32	1	3803	1	EIF4G1	3	184045425	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	139943	184045425	13977005	389	34664										
CHRD	8646	genome.wustl.edu	37	chr3	184100681	184100681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgaggctccagattctacaCcaggggcagctactgcgaga	12	11	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184100681C>T	ENST00000204604.1	+	9	1266	c.1020C>T	c.(1018-1020)caC>caT	p.H340H	CHRD_ENST00000450923.1_Silent_p.H340H|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.H340H|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	340	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATTCTACACCAGGGGCAGC	0.572																																																	0													61	60	60					3																	184100681		2203	4300	6503	SO:0001819	synonymous_variant	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1020C>T	3.37:g.184100681C>T			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_CHRD,pfscan_CHRD,pfscan_VWF_C	p.P331S	ENST00000204604.1	37	c.991	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534586	0.27475	.	.	ENSG00000090539	ENST00000342610	.	.	.	4.79	0.842	0.18927	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56733	-0.7930	5	0.87932	D	0	-10.3703	4.0858	0.09947	0.1557:0.5092:0.0:0.3351	.	.	.	.	S	28	.	ENSP00000339396:P28S	P	+	1	0	CHRD	185583375	0.968000	0.33430	0.998000	0.56505	0.982000	0.71751	0.060000	0.14342	0.169000	0.19679	0.563000	0.77884	CCA	CHRD	-	pfscan_CHRD		0.572	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	C	NM_003741		184100681	1	no_errors	ENST00000420973	ensembl	human	known	70_37	missense	SNP	1.000	T	T	184100681	C	T	184100681	2	4	185	1	0	0	0	0	0	0	0	1	3377	506	18	4		4	CHRD	3	184100681	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	55256	184100681	13921749	390	34665										
CHRD	8646	genome.wustl.edu	37	chr3	184102886	184102886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcacgcctggctttccttgGatacccactgtcacctgcac	9	16	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184102886G>A	ENST00000204604.1	+	14	1924	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	CHRD_ENST00000450923.1_Missense_Mutation_p.D560N|CHRD_ENST00000545352.1_Missense_Mutation_p.D190N|CHRD_ENST00000348986.3_Missense_Mutation_p.D520N|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	560	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTTTCCTTGGATACCCACTG	0.632																																																	0													110	111	111					3																	184102886		2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1678G>A	3.37:g.184102886G>A	ENSP00000204604:p.Asp560Asn		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.D560N	ENST00000204604.1	37	c.1678	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.112444	0.94339	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.38	5.38	0.77491	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;0.998;1.0	D;D;D;D	0.97110	0.974;1.0;0.993;0.996	T	0.63377	-0.6651	10	0.72032	D	0.01	-15.4413	16.9955	0.86366	0.0:0.0:1.0:0.0	.	190;520;560;560	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	N	560;560;520;190;273	ENSP00000204604:D560N;ENSP00000408972:D560N;ENSP00000334036:D520N;ENSP00000442948:D190N	ENSP00000204604:D560N	D	+	1	0	CHRD	185585580	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.807000	0.91935	2.701000	0.92244	0.655000	0.94253	GAT	CHRD	-	pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD		0.632	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	G	NM_003741		184102886	1	no_errors	ENST00000204604	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184102886	G	A	184102886	3	1	185	1	0	0	0	0	1	0	0	0	3377	1174	41	1	1732	1	CHRD	3	184102886	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2205	184102886	13919544	391	34666										
CHRD	8646	genome.wustl.edu	37	chr3	184107189	184107189	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaactgatccagagctggaGaaagaagccgaaggctctta	12	8	1	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184107189G>C	ENST00000204604.1	+	23	3093	c.2847G>C	c.(2845-2847)gaG>gaC	p.E949D	CHRD_ENST00000450923.1_Missense_Mutation_p.E948D|CHRD_ENST00000545352.1_Missense_Mutation_p.E491D|CHRD_ENST00000348986.3_Missense_Mutation_p.E909D|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	949					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGAGCTGGAGAAAGAAGCCG	0.592																																																	0													35	35	35					3																	184107189		2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2847G>C	3.37:g.184107189G>C	ENSP00000204604:p.Glu949Asp		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.E949D	ENST00000204604.1	37	c.2847	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	g	13.62	2.291923	0.40594	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.47869	2.64;2.49;2.41;0.83	5.04	3.23	0.37069	.	0.712428	0.13808	N	0.361284	T	0.35393	0.0930	L	0.43152	1.355	0.21386	N	0.999706	B;B;B;B	0.25850	0.01;0.136;0.039;0.084	B;B;B;B	0.29176	0.021;0.099;0.031;0.046	T	0.27706	-1.0066	10	0.07990	T	0.79	-10.2842	8.3057	0.32041	0.19:0.0:0.81:0.0	.	491;909;948;949	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	D	949;948;909;491	ENSP00000204604:E949D;ENSP00000408972:E948D;ENSP00000334036:E909D;ENSP00000442948:E491D	ENSP00000204604:E949D	E	+	3	2	CHRD	185589883	0.995000	0.38212	0.995000	0.50966	0.856000	0.48823	0.027000	0.13621	1.119000	0.41883	0.556000	0.70494	GAG	CHRD	-	pirsf_Chordin		0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	G	NM_003741		184107189	1	no_errors	ENST00000204604	ensembl	human	known	70_37	missense	SNP	1.000	C	C	184107189	G	C	184107189	3	2	185	1	0	0	0	0	1	0	0	0	3377	933	33	1	2937	1	CHRD	3	184107189	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4303	184107189	13915241	392	34667										
VPS8	23355	genome.wustl.edu	37	chr3	184573498	184573498	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttttccatctccctacttaGatggatccttccagtgtgcc	6	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184573498G>C	ENST00000437079.3	+	14	1206		c.e14-1		VPS8_ENST00000446204.2_Splice_Site|VPS8_ENST00000436792.2_Splice_Site|VPS8_ENST00000287546.4_Splice_Site	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)								zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCCCTACTTAGATGGATCCTT	0.408																																																	0													164	154	157					3																	184573498		1883	4106	5989	SO:0001630	splice_region_variant	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1036-1G>C	3.37:g.184573498G>C			A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Splice_Site	SNP	-	e12-1	ENST00000437079.3	37	c.1036-1	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529928	0.64860	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8505	0.88746	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS8	186056192	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	9.556000	0.98127	2.443000	0.82685	0.650000	0.86243	.	VPS8	-	-		0.408	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		G	NM_015303	Intron	184573498	1	no_errors	ENST00000287546	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	184573498	G	C	184573498	5	2	185	1	0	0	0	0	0	0	1	0	17249	956	33	1	1081	1	VPS8	3	184573498	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	466309	184573498	13448932	393	34668										
EHHADH	1962	genome.wustl.edu	37	chr3	184935936	184935936	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttcttacctgaaactctctGagcaaatctgattgcttctt	5	11	4	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:184935936G>A	ENST00000231887.3	-	5	631	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	EHHADH_ENST00000475987.1_5'Flank|EHHADH_ENST00000456310.1_Nonsense_Mutation_p.Q90*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	186	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GAAACTCTCTGAGCAAATCTG	0.393																																																	0													137	138	138					3																	184935936		2203	4300	6503	SO:0001587	stop_gained	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.556C>T	3.37:g.184935936G>A	ENSP00000231887:p.Gln186*		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.Q186*	ENST00000231887.3	37	c.556	CCDS33901.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.715454	0.96830	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	.	.	.	5.9	3.97	0.46021	.	0.450397	0.23865	N	0.043804	.	.	.	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-15.1717	10.4386	0.44450	0.0:0.1344:0.7119:0.1537	.	.	.	.	X	186;186;90	.	ENSP00000231887:Q186X	Q	-	1	0	EHHADH	186418630	0.002000	0.14202	0.368000	0.25939	0.777000	0.43975	0.575000	0.23729	2.802000	0.96397	0.650000	0.86243	CAG	EHHADH	-	NULL		0.393	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	HGNC	protein_coding	OTTHUMT00000345326.1	G			184935936	-1	no_errors	ENST00000231887	ensembl	human	known	70_37	nonsense	SNP	0.168	A	A	184935936	G	A	184935936	4	1	185	1	0	0	0	0	0	1	0	0	4992	1299	45	1	1627	1	EHHADH	3	184935936	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	362438	184935936	13086494	394	34669										
EIF4A2	1974	genome.wustl.edu	37	chr3	186502437	186502437	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcatctatgcttacggttttGagaagccttccgctattcag	9	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:186502437G>C	ENST00000323963.5	+	3	224	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	SNORA4_ENST00000584302.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.E55Q|SNORA63_ENST00000363450.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.L5F|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	54					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TTACGGTTTTGAGAAGCCTTC	0.358			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0													119	124	122					3																	186502437		2203	4300	6503	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.160G>C	3.37:g.186502437G>C	ENSP00000326381:p.Glu54Gln		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E55Q	ENST00000323963.5	37	c.163	CCDS3282.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.090050|5.090050	0.94149|0.94149	.|.	.|.	ENSG00000156976|ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191|ENST00000356531	T;T;T|T	0.35605|0.35605	1.3;1.59;1.6|1.3	4.6|4.6	4.6|4.6	0.57074|0.57074	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);|.	0.050694|.	0.85682|.	D|.	0.000000|.	T|T	0.49881|0.49881	0.1583|0.1583	M|M	0.79614|0.79614	2.46|2.46	0.44207|0.44207	D|D	0.997031|0.997031	D;D|P	0.71674|0.50528	0.998;0.985|0.936	D;P|P	0.66196|0.49140	0.942;0.805|0.601	T|T	0.58797|0.58797	-0.7573|-0.7573	10|9	0.87932|0.87932	D|D	0|0	-18.0316|-18.0316	15.292|15.292	0.73872|0.73872	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	55;54|5	Q14240-2;Q14240|Q9NZE6	.;IF4A2_HUMAN|.	Q|F	54;54;54;55|5	ENSP00000415878:E54Q;ENSP00000326381:E54Q;ENSP00000398370:E55Q|ENSP00000348925:L5F	ENSP00000326381:E54Q|ENSP00000348925:L5F	E|L	+|+	1|3	0|2	EIF4A2|EIF4A2	187985131|187985131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.148000|9.148000	0.94652|0.94652	2.547000|2.547000	0.85894|0.85894	0.585000|0.585000	0.79938|0.79938	GAG|TTG	EIF4A2	-	smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif		0.358	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186502437	1	no_errors	ENST00000440191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	186502437	G	C	186502437	3	2	185	1	0	0	0	0	1	0	0	0	5037	1291	45	1	170	1	EIF4A2	3	186502437	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1566501	186502437	11519993	395	34670										
EIF4A2	1974	genome.wustl.edu	37	chr3	186503748	186503748	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cattggtggaacaaatgttcGaaatgaaatgcaaaaactgc	9	6	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:186503748G>C	ENST00000323963.5	+	5	489	c.425G>C	c.(424-426)cGa>cCa	p.R142P	SNORA4_ENST00000584302.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.R143P|SNORA63_ENST00000363450.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.R47P|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	142	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ACAAATGTTCGAAATGAAATG	0.398			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0													95	88	91					3																	186503748		2203	4300	6503	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.425G>C	3.37:g.186503748G>C	ENSP00000326381:p.Arg142Pro		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R143P	ENST00000323963.5	37	c.428	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153886	0.78114	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.15603	2.41;2.41;2.41	4.51	4.51	0.55191	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	L	0.41236	1.265	0.80722	D	1	D;D;D	0.71674	0.998;0.972;0.977	D;P;P	0.67900	0.954;0.637;0.752	T	0.00893	-1.1524	10	0.35671	T	0.21	-22.2168	15.0932	0.72211	0.0:0.0:1.0:0.0	.	47;143;142	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	P	142;143;47	ENSP00000326381:R142P;ENSP00000398370:R143P;ENSP00000348925:R47P	ENSP00000326381:R142P	R	+	2	0	EIF4A2	187986442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.304000	0.78882	2.497000	0.84241	0.650000	0.86243	CGA	EIF4A2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186503748	1	no_errors	ENST00000440191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	186503748	G	C	186503748	3	2	185	1	0	0	0	0	1	0	0	0	5037	1058	37	1	443	1	EIF4A2	3	186503748	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1311	186503748	11518682	396	34671										
MASP1	5648	genome.wustl.edu	37	chr3	186947582	186947582	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgcagaagggctgcccattCaggtgtgacagcatggcaat	13	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:186947582C>T	ENST00000337774.5	-	11	1796	c.1407G>A	c.(1405-1407)ctG>ctA	p.L469L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	469	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCTGCCCATTCAGGTGTGACA	0.592																																																	0													70	66	68					3																	186947582		2203	4300	6503	SO:0001819	synonymous_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1407G>A	3.37:g.186947582C>T			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L469	ENST00000337774.5	37	c.1407	CCDS33907.1	3																																																																																			MASP1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.592	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	C	NM_001879		186947582	-1	no_errors	ENST00000337774	ensembl	human	known	70_37	silent	SNP	0.000	T	T	186947582	C	T	186947582	2	4	185	1	0	0	0	0	0	0	0	1	9345	813	29	1		1	MASP1	3	186947582	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	443834	186947582	11074848	397	34672										
MASP1	5648	genome.wustl.edu	37	chr3	186954180	186954180	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgcagcacatgagctgctgtGaggatccaggacgcagagag	15	10	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:186954180G>C	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Silent_p.L493L|MASP1_ENST00000392472.2_Silent_p.L380L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GAGCTGCTGTGAGGATCCAGG	0.587																																																	0													93	89	90					3																	186954180		2203	4300	6503	SO:0001627	intron_variant	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5088C>G	3.37:g.186954180G>C			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L493	ENST00000337774.5	37	c.1479	CCDS33907.1	3																																																																																			MASP1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.587	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	G	NM_001879		186954180	-1	no_errors	ENST00000296280	ensembl	human	known	70_37	silent	SNP	1.000	C	C	186954180	G	C	186954180	1	2	185	0	1	0	0	0	0	0	0	0	9345	1277	45	1		1	MASP1	3	186954180	Intron	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6598	186954180	11068250	398	34673										
RTP2	344892	genome.wustl.edu	37	chr3	187416340	187416340	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggtaaacaacgagcaggcaGagagaggcccagaagaggca	15	8	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:187416340G>A	ENST00000358241.1	-	2	1052	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	208					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CGAGCAGGCAGAGAGAGGCCC	0.582																																																	0													82	86	84					3																	187416340		2203	4300	6503	SO:0001819	synonymous_variant	344892			AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"Receptor transporter proteins"	32486	protein-coding gene	gene with protein product	"receptor transporting protein 2", "zinc finger, 3CxxC-type 2"	609138	"receptor transporter protein 2"			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.624C>T	3.37:g.187416340G>A			Q6NVH4	Silent	SNP	NULL	p.L208	ENST00000358241.1	37	c.624	CCDS33911.1	3																																																																																			RTP2	-	NULL		0.582	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP2	HGNC	protein_coding	OTTHUMT00000344259.1	G	NM_001004312		187416340	-1	no_errors	ENST00000358241	ensembl	human	known	70_37	silent	SNP	0.926	A	A	187416340	G	A	187416340	2	1	185	1	0	0	0	0	0	0	0	1	13764	929	33	1		1	RTP2	3	187416340	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	462160	187416340	10606090	399	34674										
HES1	3280	genome.wustl.edu	37	chr3	193855591	193855591	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttaataccgaggtgcgcactCggctgctcggccacctggcc	12	15	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:193855591C>G	ENST00000232424.3	+	4	648	c.412C>G	c.(412-414)Cgg>Ggg	p.R138G		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GGTGCGCACTCGGCTGCTCGG	0.667																																																	0													65	58	60					3																	193855591		2203	4300	6503	SO:0001583	missense	3280			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.412C>G	3.37:g.193855591C>G	ENSP00000232424:p.Arg138Gly		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.R138G	ENST00000232424.3	37	c.412	CCDS3305.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248254	0.80024	.	.	ENSG00000114315	ENST00000232424	T	0.59772	0.24	4.46	4.46	0.54185	Orange subgroup (1);Orange (2);	0.178359	0.49305	N	0.000158	T	0.71888	0.3393	M	0.87971	2.92	0.80722	D	1	P	0.47762	0.9	P	0.49953	0.627	T	0.79451	-0.1798	10	0.66056	D	0.02	-11.9577	16.5053	0.84270	0.0:1.0:0.0:0.0	.	138	Q14469	HES1_HUMAN	G	138	ENSP00000232424:R138G	ENSP00000232424:R138G	R	+	1	2	HES1	195338285	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.942000	0.70203	2.190000	0.69967	0.555000	0.69702	CGG	HES1	-	pfam_Orange,smart_Orange_subgr,pfscan_Orange		0.667	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES1	HGNC	protein_coding	OTTHUMT00000342632.1	C			193855591	1	no_errors	ENST00000232424	ensembl	human	known	70_37	missense	SNP	1.000	G	G	193855591	C	G	193855591	3	3	185	1	0	0	0	0	1	0	0	0	7085	875	31	1	426	1	HES1	3	193855591	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6439251	193855591	4166839	400	34675										
LSG1	55341	genome.wustl.edu	37	chr3	194380810	194380810	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacttgacttaccaaatcctCacatctaaacaggagtgggt	7	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:194380810C>T	ENST00000265245.5	-	6	888	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	192	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACCAAATCCTCACATCTAAAC	0.433																																																	0													121	107	112					3																	194380810		2203	4300	6503	SO:0001583	missense	55341				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.574G>A	3.37:g.194380810C>T	ENSP00000265245:p.Glu192Lys		A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	pfam_GTP_binding_domain,prints_GTP_binding_domain	p.E192K	ENST00000265245.5	37	c.574	CCDS33922.1	3	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638366	0.47153	.	.	ENSG00000041802	ENST00000265245	D	0.83591	-1.74	5.24	2.39	0.29439	.	0.378431	0.29093	N	0.013173	T	0.68201	0.2975	L	0.38692	1.165	0.26402	N	0.976403	P	0.39920	0.695	B	0.35607	0.206	T	0.57568	-0.7789	10	0.28530	T	0.3	.	3.8076	0.08783	0.116:0.3825:0.3566:0.1448	.	192	Q9H089	LSG1_HUMAN	K	192	ENSP00000265245:E192K	ENSP00000265245:E192K	E	-	1	0	LSG1	195862099	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.979000	0.40608	0.396000	0.25283	-0.169000	0.13324	GAG	LSG1	-	NULL		0.433	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSG1	HGNC	protein_coding	OTTHUMT00000342740.1	C	NM_018385		194380810	-1	no_errors	ENST00000265245	ensembl	human	known	70_37	missense	SNP	0.972	T	T	194380810	C	T	194380810	3	4	185	1	0	0	0	0	1	0	0	0	9072	835	29	1	1438	1	LSG1	3	194380810	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	525219	194380810	3641620	401	34676										
APOD	347	genome.wustl.edu	37	chr3	195295997	195295997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaggatccagtacggtgccGatggcataactgagaaccag	12	11	0	1	rs5954		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:195295997G>A	ENST00000343267.3	-	5	705	c.344C>T	c.(343-345)tCg>tTg	p.S115L		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	115			S -> L (in dbSNP:rs5954). {ECO:0000269|PubMed:10391209}.		aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GTACGGTGCCGATGGCATAAC	0.512																																																	0													90	87	88					3																	195295997		2203	4300	6503	SO:0001583	missense	347				CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.344C>T	3.37:g.195295997G>A	ENSP00000345179:p.Ser115Leu		B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac	p.S115L	ENST00000343267.3	37	c.344	CCDS33925.1	3	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154474	0.21371	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.30448	1.53;1.53;1.53	5.92	4.02	0.46733	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.477428	0.24260	N	0.040090	T	0.23410	0.0566	L	0.39898	1.24	0.09310	N	1	P	0.39352	0.669	B	0.33196	0.159	T	0.10753	-1.0616	10	0.40728	T	0.16	-1.6329	13.017	0.58764	0.0:0.3074:0.6926:0.0	rs5954	115	P05090	APOD_HUMAN	L	115;143;115	ENSP00000345179:S115L;ENSP00000415235:S143L;ENSP00000393076:S115L	ENSP00000345179:S115L	S	-	2	0	APOD	196777286	0.000000	0.05858	0.009000	0.14445	0.133000	0.20885	0.808000	0.27154	1.456000	0.47831	0.561000	0.74099	TCG	APOD	-	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD		0.512	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOD	HGNC	protein_coding	OTTHUMT00000342004.1	G	NM_001647		195295997	-1	no_errors	ENST00000343267	ensembl	human	known	70_37	missense	SNP	0.002	A	A	195295997	G	A	195295997	3	1	185	1	0	0	0	0	1	0	0	0	801	1059	37	1	229	1	APOD	3	195295997	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	915187	195295997	2726433	402	34677										
KIAA0226	9711	genome.wustl.edu	37	chr3	197427948	197427948	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggtttgatcctctgctggtGagacgtgccctctgctttct	11	11	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:197427948G>A	ENST00000296343.5	-	7	796	c.797C>T	c.(796-798)tCa>tTa	p.S266L	KIAA0226_ENST00000389665.5_Missense_Mutation_p.S266L|KIAA0226_ENST00000273582.5_Missense_Mutation_p.S206L|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000449205.1_Missense_Mutation_p.S266L	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	266	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCTGCTGGTGAGACGTGCCC	0.512																																					Esophageal Squamous(3;167 355 3763 15924)												0													55	57	56					3																	197427948		1909	4131	6040	SO:0001583	missense	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.797C>T	3.37:g.197427948G>A	ENSP00000296343:p.Ser266Leu		Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.S266L	ENST00000296343.5	37	c.797	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.580|7.580	0.668539|0.668539	0.14776|0.14776	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|.	.|.	.|.	5.74|5.74	2.97|2.97	0.34412|0.34412	.|.	.|0.973875	.|0.08469	.|N	.|0.941321	T|T	0.23572|0.23572	0.0570|0.0570	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.32753	.|0.323;0.383;0.376;0.126	.|B;B;B;B	.|0.26969	.|0.055;0.073;0.075;0.055	T|T	0.18116|0.18116	-1.0347|-1.0347	5|9	.|0.34782	.|T	.|0.22	.|.	7.1612|7.1612	0.25664|0.25664	0.1424:0.0:0.7197:0.1379|0.1424:0.0:0.7197:0.1379	.|.	.|266;99;206;266	.|E9PEM3;Q5HYI6;Q92622-2;Q92622	.|.;.;.;RUBIC_HUMAN	Y|L	25|206;266;266;266	.|.	.|ENSP00000273582:S206L	H|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198912345|198912345	0.103000|0.103000	0.21917|0.21917	0.000000|0.000000	0.03702|0.03702	0.047000|0.047000	0.14425|0.14425	2.459000|2.459000	0.45023|0.45023	0.345000|0.345000	0.23873|0.23873	-0.136000|-0.136000	0.14681|0.14681	CAC|TCA	KIAA0226	-	NULL		0.512	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	G	XM_032901		197427948	-1	no_errors	ENST00000296343	ensembl	human	known	70_37	missense	SNP	0.001	A	A	197427948	G	A	197427948	3	1	185	1	0	0	0	0	1	0	0	0	8182	1294	45	1	2226	1	KIAA0226	3	197427948	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2131951	197427948	594482	403	34678										
LMLN	89782	genome.wustl.edu	37	chr3	197748331	197748331	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgcagtactttgatgaactCagtggaatacctgcagaaga	10	8	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr3:197748331C>T	ENST00000330198.4	+	13	1402	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L	LMLN_ENST00000332636.5_Silent_p.L408L|LMLN_ENST00000420910.2_Silent_p.L497L|LMLN_ENST00000482695.1_Silent_p.L445L	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	460					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTGATGAACTCAGTGGAATAC	0.408																																																	0													160	162	161					3																	197748331		2203	4300	6503	SO:0001819	synonymous_variant	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1380C>T	3.37:g.197748331C>T			B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	pfam_Peptidase_M8	p.L460	ENST00000330198.4	37	c.1380	CCDS3332.1	3																																																																																			LMLN	-	pfam_Peptidase_M8		0.408	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	C	NM_033029		197748331	1	no_errors	ENST00000330198	ensembl	human	known	70_37	silent	SNP	0.987	T	T	197748331	C	T	197748331	2	4	185	1	0	0	0	0	0	0	0	1	8868	813	29	1		1	LMLN	3	197748331	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	320383	197748331	274099	404	34679										
PDE6B	5158	genome.wustl.edu	37	chr4	657609	657609	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cggcagcacgagcacgtgatCcacctgatggacatcgccat	11	14	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:657609C>A	ENST00000496514.1	+	16	1992	c.1971C>A	c.(1969-1971)atC>atA	p.I657I	PDE6B_ENST00000429163.2_Silent_p.I378I|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Silent_p.I657I			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	657					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AGCACGTGATCCACCTGATGG	0.682																																					GBM(71;463 1194 9848 25922 46834)												0													49	47	48					4																	657609		2203	4300	6503	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1971C>A	4.37:g.657609C>A			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.I657	ENST00000496514.1	37	c.1971	CCDS33932.1	4																																																																																			PDE6B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.682	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	C	NM_000283		657609	1	no_errors	ENST00000496514	ensembl	human	known	70_37	silent	SNP	1.000	A	A	657609	C	A	657609	2	1	185	1	0	0	0	0	0	0	0	1	11670	845	30	3		3	PDE6B	4	657609	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		657609	190496667	405	34680										
D4S234E	27065	genome.wustl.edu	37	chr4	4411304	4411304	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacctctgcccacaggtctCcgtgttggtcctcttcgccc	8	19	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:4411304C>G	ENST00000421177.2	+	8	2242	c.251C>G	c.(250-252)tCc>tGc	p.S84C	NSG1_ENST00000397958.1_Missense_Mutation_p.S84C|NSG1_ENST00000433139.2_Missense_Mutation_p.S84C|NSG1_ENST00000504171.1_Missense_Mutation_p.S45C|NSG1_ENST00000505246.1_Missense_Mutation_p.S84C|NSG1_ENST00000506380.1_Missense_Mutation_p.S84C|NSG1_ENST00000513555.1_Missense_Mutation_p.S84C			P42857	NSG1_HUMAN		84					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CCACAGGTCTCCGTGTTGGTC	0.632																																																	0													151	116	128					4																	4411304		2203	4300	6503	SO:0001583	missense	27065																														ENST00000421177.2:c.251C>G	4.37:g.4411304C>G	ENSP00000388823:p.Ser84Cys		B4DXC5|Q49AQ1	Missense_Mutation	SNP	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	p.S84C	ENST00000421177.2	37	c.251	CCDS3376.1	4	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925492	0.52759	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	3.99	3.99	0.46301	.	0.068296	0.56097	D	0.000024	T	0.45935	0.1367	N	0.08118	0	0.45822	D	0.998692	P;P	0.43477	0.57;0.808	B;P	0.51229	0.383;0.663	T	0.58814	-0.7570	9	0.72032	D	0.01	-18.867	16.2803	0.82673	0.0:1.0:0.0:0.0	.	45;84	B4DXC5;P42857	.;NSG1_HUMAN	C	84;84;84;84;84;84;45	.	ENSP00000381049:S84C	S	+	2	0	AC110814.1	4462205	1.000000	0.71417	0.990000	0.47175	0.316000	0.28119	6.810000	0.75216	2.043000	0.60533	0.561000	0.74099	TCC	NSG1	-	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact		0.632	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSG1	Uniprot_genename	protein_coding	OTTHUMT00000246799.1	C			4411304	1	no_errors	ENST00000397958	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4411304	C	G	4411304	3	3	185	1	0	0	0	0	1	0	0	0	4219	855	30	1	261	1	D4S234E	4	4411304	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3753695	4411304	186742972	406	34681										
KIAA0232	9778	genome.wustl.edu	37	chr4	6858947	6858947	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccagactgaaagaccttcaGagtaagcaaggtgaggtcaa	11	8	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:6858947G>C	ENST00000307659.5	+	5	881	c.426G>C	c.(424-426)caG>caC	p.Q142H	KIAA0232_ENST00000425103.1_Missense_Mutation_p.Q142H	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	142							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGACCTTCAGAGTAAGCAAG	0.453																																																	0													61	60	60					4																	6858947		1902	4131	6033	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.426G>C	4.37:g.6858947G>C	ENSP00000303928:p.Gln142His		A7E2D2	Missense_Mutation	SNP	NULL	p.Q142H	ENST00000307659.5	37	c.426	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994349	0.74703	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.43	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	L	0.40543	1.245	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.70223	-0.4931	9	0.66056	D	0.02	-8.0672	13.7137	0.62682	0.0739:0.0:0.9261:0.0	.	142	Q92628	K0232_HUMAN	H	142	.	ENSP00000303928:Q142H	Q	+	3	2	KIAA0232	6909848	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.954000	0.56708	1.303000	0.44873	0.655000	0.94253	CAG	KIAA0232	-	NULL		0.453	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	G	NM_014743		6858947	1	no_errors	ENST00000307659	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6858947	G	C	6858947	3	2	185	1	0	0	0	0	1	0	0	0	8183	933	33	1	436	1	KIAA0232	4	6858947	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2447643	6858947	184295329	407	34682										
CC2D2A	57545	genome.wustl.edu	37	chr4	15581639	15581639	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcaagcaactgagaagtttCaagctgaatgtgccttaaag	9	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:15581639C>G	ENST00000503292.1	+	31	4000	c.3820C>G	c.(3820-3822)Caa>Gaa	p.Q1274E	CC2D2A_ENST00000424120.1_Missense_Mutation_p.Q1274E|CC2D2A_ENST00000413206.1_Missense_Mutation_p.Q1274E|CC2D2A_ENST00000389652.5_Missense_Mutation_p.Q1166E	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1274					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGAGAAGTTTCAAGCTGAATG	0.343																																																	0													121	117	119					4																	15581639		1851	4098	5949	SO:0001583	missense	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3820C>G	4.37:g.15581639C>G	ENSP00000421809:p.Gln1274Glu		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.Q1274E	ENST00000503292.1	37	c.3820	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181389	0.21787	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.16	5.16	0.70880	.	0.266810	0.36066	N	0.002809	D	0.83161	0.5194	N	0.17082	0.46	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.77146	-0.2695	10	0.02654	T	1	.	15.301	0.73952	0.0:0.8499:0.1501:0.0	.	1274;1166	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	E	1274;1274;1166;1166;1274;1166	ENSP00000403465:Q1274E;ENSP00000398391:Q1274E;ENSP00000421809:Q1274E;ENSP00000374303:Q1166E	ENSP00000374303:Q1166E	Q	+	1	0	CC2D2A	15190737	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.255000	0.65462	2.411000	0.81874	0.650000	0.86243	CAA	CC2D2A	-	NULL		0.343	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	C	NM_001080522		15581639	1	no_errors	ENST00000413206	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15581639	C	G	15581639	3	3	185	1	0	0	0	0	1	0	0	0	2733	827	29	1	4137	1	CC2D2A	4	15581639	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	8722692	15581639	175572637	408	34683										
BST1	683	genome.wustl.edu	37	chr4	15713435	15713435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctacttaccccttaggactcGattaccaatcctgccctaca	4	16	0	0	rs375412643		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:15713435G>A	ENST00000265016.4	+	4	652	c.457G>A	c.(457-459)Gat>Aat	p.D153N	BST1_ENST00000382346.3_Missense_Mutation_p.D168N	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	153					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CTTAGGACTCGATTACCAATC	0.383																																																	0								G	ASN/ASP	0,4406		0,0,2203	138	133	135		457	4.8	0.7	4		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	BST1	NM_004334.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	153/319	15713435	1,13005	2203	4300	6503	SO:0001583	missense	683			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.457G>A	4.37:g.15713435G>A	ENSP00000265016:p.Asp153Asn		B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.D153N	ENST00000265016.4	37	c.457	CCDS3416.1	4	.	.	.	.	.	.	.	.	.	.	G	5.814	0.334527	0.11013	0.0	1.16E-4	ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000514445	T;T;T	0.12465	2.68;2.68;2.68	5.64	4.8	0.61643	.	0.359218	0.31167	N	0.008130	T	0.18593	0.0446	L	0.27053	0.805	0.49389	D	0.999788	D	0.89917	1.0	D	0.78314	0.991	T	0.08330	-1.0727	10	0.06365	T	0.9	-28.6425	10.4866	0.44726	0.0895:0.0:0.9105:0.0	.	153	Q10588	BST1_HUMAN	N	153;168;3	ENSP00000265016:D153N;ENSP00000371783:D168N;ENSP00000420925:D3N	ENSP00000265016:D153N	D	+	1	0	BST1	15322533	0.999000	0.42202	0.669000	0.29828	0.325000	0.28411	3.569000	0.53827	1.384000	0.46424	0.655000	0.94253	GAT	BST1	-	pfam_ADP-ribosyl_cyclase		0.383	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	G	NM_004334		15713435	1	no_errors	ENST00000265016	ensembl	human	known	70_37	missense	SNP	0.940	A	A	15713435	G	A	15713435	3	1	185	1	0	0	0	0	1	0	0	0	1536	1058	37	1	471	1	BST1	4	15713435	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	131796	15713435	175440841	409	34684										
LDB2	9079	genome.wustl.edu	37	chr4	16590405	16590405	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagtgccatgttttgattctCatgagatcatcaaaggtgaa	9	6	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:16590405C>G	ENST00000304523.5	-	4	782	c.459G>C	c.(457-459)atG>atC	p.M153I	LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_Missense_Mutation_p.M29I|LDB2_ENST00000515064.1_Missense_Mutation_p.M153I|LDB2_ENST00000502640.1_Missense_Mutation_p.M153I|LDB2_ENST00000441778.2_Missense_Mutation_p.M153I	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	153					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTTTGATTCTCATGAGATCAT	0.403																																																	0													204	175	185					4																	16590405		2203	4300	6503	SO:0001583	missense	9079			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.459G>C	4.37:g.16590405C>G	ENSP00000306772:p.Met153Ile		O60619|O75480	Missense_Mutation	SNP	NULL	p.M153I	ENST00000304523.5	37	c.459	CCDS3420.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.165188|5.165188	0.94768|0.94768	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178;ENST00000506732|ENST00000507464	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83321|.	0.5229|.	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D;P|.	0.76494|.	0.991;0.705;0.993;0.999;0.991;0.964;0.956|.	D;P;D;D;P;D;D|.	0.85130|.	0.992;0.708;0.93;0.997;0.885;0.989;0.98|.	D|.	0.85095|.	0.0954|.	9|.	0.59425|.	D|.	0.04|.	-16.0754|-16.0754	18.4277|18.4277	0.90614|0.90614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	29;119;153;153;153;153;129|.	B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3|.	.;.;.;.;.;LDB2_HUMAN;.|.	I|S	153;153;153;153;29;129|75	.|.	ENSP00000306772:M153I|.	M|X	-|-	3|2	0|2	LDB2|LDB2	16199503|16199503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.672000|2.672000	0.90937|0.90937	0.655000|0.655000	0.94253|0.94253	ATG|TGA	LDB2	-	NULL		0.403	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	C			16590405	-1	no_errors	ENST00000304523	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16590405	C	G	16590405	3	3	185	1	0	0	0	0	1	0	0	0	8716	826	29	1	791	1	LDB2	4	16590405	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	876970	16590405	174563871	410	34685										
LAP3	51056	genome.wustl.edu	37	chr4	17608478	17608478	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attgaaacaggggaccgtgtCtggaggatgcctctcttcga	13	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:17608478C>T	ENST00000226299.4	+	12	1561	c.1287C>T	c.(1285-1287)gtC>gtT	p.V429V	LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Silent_p.V398V|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	429					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGGACCGTGTCTGGAGGATGC	0.448																																																	0													151	137	142					4																	17608478		2203	4300	6503	SO:0001819	synonymous_variant	51056			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1287C>T	4.37:g.17608478C>T			B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17	p.V429	ENST00000226299.4	37	c.1287	CCDS3422.1	4																																																																																			LAP3	-	pfam_Peptidase_M17_C		0.448	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	C			17608478	1	no_errors	ENST00000226299	ensembl	human	known	70_37	silent	SNP	0.989	T	T	17608478	C	T	17608478	2	4	185	1	0	0	0	0	0	0	0	1	8643	900	32	1		1	LAP3	4	17608478	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1018073	17608478	173545798	411	34686										
SEL1L3	23231	genome.wustl.edu	37	chr4	25806331	25806331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttacagccttctcaaatatCttcccaccgatttctgatac	3	13	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:25806331C>G	ENST00000399878.3	-	10	1730	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	SEL1L3_ENST00000264868.5_Missense_Mutation_p.K501N|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K383N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	536						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTCAAATATCTTCCCACCGA	0.428																																																	0													111	106	107					4																	25806331		1865	4110	5975	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1608G>C	4.37:g.25806331C>G	ENSP00000382767:p.Lys536Asn		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.K536N	ENST00000399878.3	37	c.1608	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633341	0.29068	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.14766	2.68;2.69;2.48	6.02	6.02	0.97574	.	0.499335	0.26200	N	0.025749	T	0.08714	0.0216	N	0.08118	0	0.29482	N	0.856286	B	0.33413	0.411	B	0.26517	0.07	T	0.12091	-1.0561	10	0.49607	T	0.09	-7.5514	18.7213	0.91694	0.0:1.0:0.0:0.0	.	536	Q68CR1	SE1L3_HUMAN	N	536;501;383	ENSP00000382767:K536N;ENSP00000264868:K501N;ENSP00000425438:K383N	ENSP00000264868:K501N	K	-	3	2	SEL1L3	25415429	0.808000	0.29022	0.999000	0.59377	0.190000	0.23558	1.577000	0.36515	2.865000	0.98341	0.655000	0.94253	AAG	SEL1L3	-	NULL		0.428	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	C	NM_015187		25806331	-1	no_errors	ENST00000399878	ensembl	human	known	70_37	missense	SNP	1.000	G	G	25806331	C	G	25806331	3	3	185	1	0	0	0	0	1	0	0	0	14042	912	32	1	1850	1	SEL1L3	4	25806331	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	8197853	25806331	165347945	412	34687										
C4orf19	55286	genome.wustl.edu	37	chr4	37592364	37592364	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagtgggggagcatggtttGaatacgcccttctctgtgag	14	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:37592364G>C	ENST00000284437.6	+	3	865	c.687G>C	c.(685-687)ttG>ttC	p.L229F	C4orf19_ENST00000381980.4_Missense_Mutation_p.L229F|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	229										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCATGGTTTGAATACGCCCT	0.453																																																	0													63	62	63					4																	37592364		2203	4300	6503	SO:0001583	missense	55286			BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.687G>C	4.37:g.37592364G>C	ENSP00000284437:p.Leu229Phe		Q9NV03	Missense_Mutation	SNP	NULL	p.L229F	ENST00000284437.6	37	c.687	CCDS3442.1	4	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279203	0.40294	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.33654	1.4;1.4	4.79	-0.00474	0.14020	.	0.608418	0.13467	N	0.385705	T	0.38054	0.1026	L	0.53249	1.67	0.09310	N	1	P	0.51351	0.944	P	0.51135	0.66	T	0.20472	-1.0274	10	0.52906	T	0.07	-0.9022	5.6392	0.17554	0.3889:0.1317:0.4794:0.0	.	229	Q8IY42	CD019_HUMAN	F	229	ENSP00000371408:L229F;ENSP00000284437:L229F	ENSP00000284437:L229F	L	+	3	2	C4orf19	37268759	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.275000	0.18698	-0.151000	0.11176	-0.218000	0.12543	TTG	C4orf19	-	NULL		0.453	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	HGNC	protein_coding	OTTHUMT00000250432.1	G	NM_018302		37592364	1	no_errors	ENST00000284437	ensembl	human	known	70_37	missense	SNP	0.000	C	C	37592364	G	C	37592364	3	2	185	1	0	0	0	0	1	0	0	0	2258	1281	45	1	693	1	C4orf19	4	37592364	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11786033	37592364	153561912	413	34688										
KLHL5	51088	genome.wustl.edu	37	chr4	39088213	39088213	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgcaaagctcttggctagtGatgacatgaacattcctaat	8	8	1	3	rs573552766		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:39088213G>A	ENST00000504108.1	+	5	1400	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	KLHL5_ENST00000359687.2_Missense_Mutation_p.D373N|KLHL5_ENST00000381930.3_Missense_Mutation_p.D373N|KLHL5_ENST00000261425.3_Missense_Mutation_p.D327N|KLHL5_ENST00000261426.5_Missense_Mutation_p.D312N|KLHL5_ENST00000508137.2_Missense_Mutation_p.D186N	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	373						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTTGGCTAGTGATGACATGAA	0.388													G|||	1	0.000199681	0	0	5008	,	,		18133	0		0	False		,,,				2504	0.001																0													108	104	105					4																	39088213		2203	4300	6503	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1117G>A	4.37:g.39088213G>A	ENSP00000423897:p.Asp373Asn		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.D373N	ENST00000504108.1	37	c.1117	CCDS33974.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.450871	0.96205	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.7	5.7	0.88788	BTB/Kelch-associated (2);	0.045310	0.85682	D	0.000000	D	0.85583	0.5730	M	0.82923	2.615	0.80722	D	1	P;P;P	0.50156	0.828;0.932;0.917	P;P;P	0.55577	0.462;0.777;0.779	D	0.86491	0.1797	10	0.59425	D	0.04	.	19.8437	0.96701	0.0:0.0:1.0:0.0	.	312;373;373	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	N	407;327;186;373;373;373;312	ENSP00000261425:D327N;ENSP00000423080:D186N;ENSP00000423897:D373N;ENSP00000352716:D373N;ENSP00000371355:D373N;ENSP00000261426:D312N	ENSP00000261425:D327N	D	+	1	0	KLHL5	38764608	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.813000	0.99286	2.693000	0.91896	0.585000	0.79938	GAT	KLHL5	-	pfam_BACK,smart_BACK		0.388	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	HGNC	protein_coding	OTTHUMT00000360604.1	G			39088213	1	no_errors	ENST00000359687	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39088213	G	A	39088213	3	1	185	1	0	0	0	0	1	0	0	0	8412	1290	45	1	1135	1	KLHL5	4	39088213	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1495849	39088213	152066063	414	34689										
RFC1	5981	genome.wustl.edu	37	chr4	39313115	39313115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcttgcctggcatagtccGaatcagattcaacaggccat	8	11	3	1	rs367742770		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:39313115G>A	ENST00000381897.1	-	12	1571	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	RFC1_ENST00000349703.2_Missense_Mutation_p.R480W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	480	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCATAGTCCGAATCAGATTC	0.363																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	120	112	115		1438,1438	3.9	1	4		115	0,8600		0,0,4300	no	missense,missense	RFC1	NM_001204747.1,NM_002913.4	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	480/1149,480/1148	39313115	1,13005	2203	4300	6503	SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1438C>T	4.37:g.39313115G>A	ENSP00000371321:p.Arg480Trp		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.R480W	ENST00000381897.1	37	c.1438	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188567	0.78789	2.27E-4	0.0	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.45668	0.89;0.89;0.89	5.71	3.89	0.44902	BRCT (3);	0.055874	0.64402	D	0.000001	T	0.68412	0.2998	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.76380	-0.2980	10	0.87932	D	0	-1.6137	14.9305	0.70911	0.0:0.0:0.7398:0.2601	.	480;480	P35251;P35251-2	RFC1_HUMAN;.	W	480;480;112	ENSP00000371321:R480W;ENSP00000261424:R480W;ENSP00000422129:R112W	ENSP00000261424:R480W	R	-	1	2	RFC1	38989510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.392000	0.52537	1.385000	0.46445	0.655000	0.94253	CGG	RFC1	-	superfamily_BRCT_dom,smart_BRCT_dom,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom		0.363	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	G	NM_002913		39313115	-1	no_errors	ENST00000381897	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39313115	G	A	39313115	3	1	185	1	0	0	0	0	1	0	0	0	13274	1057	37	1	2061	1	RFC1	4	39313115	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	224902	39313115	151841161	415	34690										
KLB	152831	genome.wustl.edu	37	chr4	39435943	39435943	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaaaccggtcggaaaacacGatggatatattcaaatgtca	8	9	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:39435943G>C	ENST00000257408.4	+	2	1036	c.939G>C	c.(937-939)acG>acC	p.T313T		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	313	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CGGAAAACACGATGGATATAT	0.468																																																	0													123	107	113					4																	39435943		2203	4300	6503	SO:0001819	synonymous_variant	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.939G>C	4.37:g.39435943G>C			Q2M3K8	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.T313	ENST00000257408.4	37	c.939	CCDS3451.1	4																																																																																			KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.468	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	G	NM_175737		39435943	1	no_errors	ENST00000257408	ensembl	human	known	70_37	silent	SNP	0.000	C	C	39435943	G	C	39435943	2	2	185	1	0	0	0	0	0	0	0	1	8352	1045	37	1		1	KLB	4	39435943	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	122828	39435943	151718333	416	34691										
DCAF4L1	285429	genome.wustl.edu	37	chr4	41983833	41983833	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaggctgaaaggctgcgactCctcgaggaagaggccaagct	15	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:41983833C>T	ENST00000333141.5	+	1	121	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	8										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GGCTGCGACTCCTCGAGGAAG	0.498																																																	0													85	85	85					4																	41983833		2203	4300	6503	SO:0001819	synonymous_variant	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.24C>T	4.37:g.41983833C>T			B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L8	ENST00000333141.5	37	c.24	CCDS33978.1	4																																																																																			DCAF4L1	-	NULL		0.498	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	C	NM_001029955		41983833	1	no_errors	ENST00000333141	ensembl	human	known	70_37	silent	SNP	0.921	T	T	41983833	C	T	41983833	2	4	185	1	0	0	0	0	0	0	0	1	4276	842	30	1		1	DCAF4L1	4	41983833	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2547890	41983833	149170443	417	34692										
LNX1	84708	genome.wustl.edu	37	chr4	54439888	54439888	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcttgttgaggagtttgttGaccaggatgctggacttctt	13	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:54439888G>A	ENST00000263925.7	-	2	596	c.282C>T	c.(280-282)gtC>gtT	p.V94V	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000504605.1_5'Flank	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	94					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAGTTTGTTGACCAGGATGC	0.562																																																	0													56	49	51					4																	54439888		1568	3582	5150	SO:0001819	synonymous_variant	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.282C>T	4.37:g.54439888G>A			Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.V94	ENST00000263925.7	37	c.282	CCDS47057.1	4																																																																																			LNX1	-	NULL		0.562	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	G			54439888	-1	no_errors	ENST00000263925	ensembl	human	known	70_37	silent	SNP	0.994	A	A	54439888	G	A	54439888	2	1	185	1	0	0	0	0	0	0	0	1	8886	1277	45	1		1	LNX1	4	54439888	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	12456055	54439888	136714388	418	34693										
CEP135	9662	genome.wustl.edu	37	chr4	56858218	56858218	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tagccatgtggctggtgactCatctcatcagaaaacagagg	11	9	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:56858218C>T	ENST00000257287.4	+	15	2100	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	659					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GCTGGTGACTCATCTCATCAG	0.308																																																	0													52	59	56					4																	56858218		2203	4300	6503	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1976C>T	4.37:g.56858218C>T	ENSP00000257287:p.Ser659Leu		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin	p.S659L	ENST00000257287.4	37	c.1976	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927524	0.52759	.	.	ENSG00000174799	ENST00000257287	T	0.54071	0.59	5.18	5.18	0.71444	.	0.269756	0.36628	N	0.002488	T	0.42449	0.1203	L	0.38692	1.165	0.41943	D	0.990622	B	0.28233	0.204	B	0.31101	0.124	T	0.33752	-0.9856	10	0.02654	T	1	.	18.0536	0.89357	0.0:1.0:0.0:0.0	.	659	Q66GS9	CP135_HUMAN	L	659	ENSP00000257287:S659L	ENSP00000257287:S659L	S	+	2	0	CEP135	56552975	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.881000	0.63114	2.567000	0.86603	0.655000	0.94253	TCA	CEP135	-	NULL		0.308	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	C	NM_025009		56858218	1	no_errors	ENST00000257287	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56858218	C	T	56858218	3	4	185	1	0	0	0	0	1	0	0	0	3252	838	29	1	2030	1	CEP135	4	56858218	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2418330	56858218	134296058	419	34694										
C4orf14	84273	genome.wustl.edu	37	chr4	57829628	57829628	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtcggtctcatacatttatCtttcctttcttcttcctcac	4	13	5	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:57829628C>G	ENST00000264230.4	-	7	3322	c.2085G>C	c.(2083-2085)aaG>aaC	p.K695N	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	695					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										ATACATTTATCTTTCCTTTCT	0.343																																																	0													145	141	142					4																	57829628		2203	4300	6503	SO:0001583	missense	84273			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.2085G>C	4.37:g.57829628C>G	ENSP00000264230:p.Lys695Asn		Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	NULL	p.K695N	ENST00000264230.4	37	c.2085	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859304	0.17178	.	.	ENSG00000084092	ENST00000264230	T	0.31769	1.48	2.81	0.0867	0.14447	.	4.267160	0.01047	N	0.004400	T	0.25827	0.0629	L	0.36672	1.1	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.26950	-1.0088	10	0.72032	D	0.01	.	5.1793	0.15152	0.0:0.574:0.1608:0.2652	.	695	Q8NC60	CD014_HUMAN	N	695	ENSP00000264230:K695N	ENSP00000264230:K695N	K	-	3	2	C4orf14	57524385	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.221000	0.09202	-0.022000	0.13986	0.655000	0.94253	AAG	NOA1	-	NULL		0.343	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	C	NM_032313		57829628	-1	no_errors	ENST00000264230	ensembl	human	known	70_37	missense	SNP	0.000	G	G	57829628	C	G	57829628	3	3	185	1	0	0	0	0	1	0	0	0	2256	912	32	1	15	1	C4orf14	4	57829628	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	971410	57829628	133324648	420	34695										
POLR2B	5431	genome.wustl.edu	37	chr4	57888400	57888400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttttgagaagcctacacgtGaaacatgccagggtaagtga	11	7	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:57888400G>A	ENST00000381227.1	+	19	2916	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	POLR2B_ENST00000314595.5_Missense_Mutation_p.E835K|POLR2B_ENST00000431623.2_Missense_Mutation_p.E760K|POLR2B_ENST00000441246.2_Missense_Mutation_p.E828K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	835					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCCTACACGTGAAACATGCCA	0.373																																																	0													79	78	78					4																	57888400		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2503G>A	4.37:g.57888400G>A	ENSP00000370625:p.Glu835Lys		A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.E835K	ENST00000381227.1	37	c.2503	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989616	0.74589	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.77	5.77	0.91146	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	L	0.54908	1.71	0.80722	D	1	B;B	0.22211	0.066;0.066	B;B	0.29440	0.102;0.102	T	0.64736	-0.6337	10	0.35671	T	0.21	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	760;835	C9J4M6;P30876	.;RPB2_HUMAN	K	835;760;828;835	ENSP00000370625:E835K;ENSP00000391096:E760K;ENSP00000391452:E828K;ENSP00000312735:E835K	ENSP00000312735:E835K	E	+	1	0	POLR2B	57583157	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.717000	0.98755	2.744000	0.94065	0.561000	0.74099	GAA	POLR2B	-	pfam_DNA-dir_RNA_pol_su2_6		0.373	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	G	NM_000938		57888400	1	no_errors	ENST00000314595	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57888400	G	A	57888400	3	1	185	1	0	0	0	0	1	0	0	0	12239	1291	45	1	2573	1	POLR2B	4	57888400	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	58772	57888400	133265876	421	34696										
UGT2B15	7366	genome.wustl.edu	37	chr4	69519921	69519921	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatcccatggtagatcgcctCatagatgccattggttccac	9	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:69519921C>G	ENST00000338206.5	-	5	1156	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	383					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TAGATCGCCTCATAGATGCCA	0.423																																																	0													189	188	188					4																	69519921		2203	4296	6499	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1147G>C	4.37:g.69519921C>G	ENSP00000341045:p.Glu383Gln		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E383Q	ENST00000338206.5	37	c.1147	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	c	13.68	2.309176	0.40895	.	.	ENSG00000196620	ENST00000338206	T	0.78246	-1.16	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000001	D	0.90424	0.7002	H	0.97315	3.98	0.31667	N	0.644833	D	0.76494	0.999	D	0.65773	0.938	D	0.90739	0.4648	10	0.87932	D	0	.	10.831	0.46661	0.0:1.0:0.0:0.0	.	383	P54855	UDB15_HUMAN	Q	383	ENSP00000341045:E383Q	ENSP00000341045:E383Q	E	-	1	0	UGT2B15	69202516	1.000000	0.71417	0.969000	0.41365	0.126000	0.20510	6.905000	0.75714	1.421000	0.47157	0.455000	0.32223	GAG	UGT2B15	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.423	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	C	NM_001076		69519921	-1	no_errors	ENST00000338206	ensembl	human	known	70_37	missense	SNP	1.000	G	G	69519921	C	G	69519921	3	3	185	1	0	0	0	0	1	0	0	0	16989	835	29	1	2070	1	UGT2B15	4	69519921	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	11631521	69519921	121634355	422	34697										
NPFFR2	10886	genome.wustl.edu	37	chr4	73013316	73013316	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttccaagaagctttccagctCcagctctgccaaaaaagagc	7	13	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:73013316C>G	ENST00000308744.6	+	4	1454	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.L350L|NPFFR2_ENST00000395999.1_Silent_p.L353L|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	452					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTTTCCAGCTCCAGCTCTGCC	0.453																																																	0													69	75	73					4																	73013316		2203	4300	6503	SO:0001819	synonymous_variant	10886			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1356C>G	4.37:g.73013316C>G			Q96RV1|Q9NR49	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L452	ENST00000308744.6	37	c.1356	CCDS3551.1	4																																																																																			NPFFR2	-	NULL		0.453	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	C	NM_004885		73013316	1	no_errors	ENST00000308744	ensembl	human	known	70_37	silent	SNP	0.023	G	G	73013316	C	G	73013316	2	3	185	1	0	0	0	0	0	0	0	1	10602	842	30	1		1	NPFFR2	4	73013316	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3493395	73013316	118140960	423	34698										
PPEF2	5470	genome.wustl.edu	37	chr4	76793176	76793176	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcactcattgaaaagtcttGcctttgcctcatggtgagtg	9	9	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:76793176G>A	ENST00000286719.7	-	13	2006		c.e13+1			NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAAAGTCTTGCCTTTGCCTC	0.403																																					NSCLC(105;1359 1603 15961 44567 47947)												0													115	106	109					4																	76793176		2203	4300	6503	SO:0001630	splice_region_variant	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1649+1C>T	4.37:g.76793176G>A			O14831	Splice_Site	SNP	-	e12+2	ENST00000286719.7	37	c.1649+2	CCDS34013.1	4	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071931	0.55646	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	.	.	.	4.61	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.016	0.19603	0.2917:0.0:0.7083:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPEF2	77012200	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.718000	0.47236	1.288000	0.44600	0.491000	0.48974	.	PPEF2	-	-		0.403	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	G	NM_006239	Intron	76793176	-1	no_errors	ENST00000286719	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	76793176	G	A	76793176	5	1	185	1	0	0	0	0	0	0	1	0	12332	1333	46	4	630	4	PPEF2	4	76793176	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3779860	76793176	114361100	424	34699										
CNOT6L	246175	genome.wustl.edu	37	chr4	78663337	78663337	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacaaccatctacatgctttCtctcctgctcagacatgatt	4	14	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:78663337C>G	ENST00000504123.1	-	8	960	c.830G>C	c.(829-831)aGa>aCa	p.R277T	CNOT6L_ENST00000264903.4_Missense_Mutation_p.R277T|CNOT6L_ENST00000506166.1_5'Flank			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	277	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TACATGCTTTCTCTCCTGCTC	0.368																																																	0													73	67	69					4																	78663337		1919	4145	6064	SO:0001583	missense	246175			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.830G>C	4.37:g.78663337C>G	ENSP00000424896:p.Arg277Thr		Q9UF92	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.R277T	ENST00000504123.1	37	c.830		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.382220|4.382220	0.82792|0.82792	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T|T;T;T;T	0.27256|0.46063	1.68|1.49;1.49;1.63;0.88	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Endonuclease/exonuclease/phosphatase (2);	.|0.083789	.|0.85682	.|D	.|0.000000	T|T	0.56470|0.56470	0.1987|0.1987	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;B	.|0.58620	.|0.983;0.433	.|P;P	.|0.55749	.|0.783;0.456	T|T	0.59841|0.59841	-0.7378|-0.7378	7|10	0.20519|0.72032	T|D	0.43|0.01	-1.9082|-1.9082	10.7375|10.7375	0.46133|0.46133	0.0:0.8567:0.0:0.1433|0.0:0.8567:0.0:0.1433	.|.	.|250;277	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	D|T	305|277;277;284;52	ENSP00000423750:E305D|ENSP00000424896:R277T;ENSP00000264903:R277T;ENSP00000425571:R284T;ENSP00000426320:R52T	ENSP00000423750:E305D|ENSP00000264903:R277T	E|R	-|-	3|2	2|0	CNOT6L|CNOT6L	78882361|78882361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.179000|3.179000	0.50887|0.50887	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|AGA	CNOT6L	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.368	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	HGNC	protein_coding	OTTHUMT00000362515.1	C			78663337	-1	no_errors	ENST00000264903	ensembl	human	known	70_37	missense	SNP	1.000	G	G	78663337	C	G	78663337	3	3	185	1	0	0	0	0	1	0	0	0	3628	913	32	1	857	1	CNOT6L	4	78663337	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1870161	78663337	112490939	425	34700										
THAP9	79725	genome.wustl.edu	37	chr4	83827655	83827655	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttacaagtgtccaaaaaaaGacttatctccgtaaagaact	6	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:83827655G>C	ENST00000302236.5	+	3	506	c.455G>C	c.(454-456)aGa>aCa	p.R152T		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	152					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCCAAAAAAAGACTTATCTCC	0.383																																																	0													87	83	84					4																	83827655		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.455G>C	4.37:g.83827655G>C	ENSP00000305533:p.Arg152Thr		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R152T	ENST00000302236.5	37	c.455	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	6.338	0.430482	0.12045	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.37058	1.22	3.87	3.03	0.35002	.	0.403983	0.18548	N	0.137991	T	0.19927	0.0479	N	0.22421	0.69	0.09310	N	1	B	0.27498	0.18	B	0.18871	0.023	T	0.11941	-1.0567	10	0.24483	T	0.36	-5.5751	7.307	0.26453	0.1184:0.0:0.8816:0.0	.	152	Q9H5L6	THAP9_HUMAN	T	152	ENSP00000305533:R152T	ENSP00000305533:R152T	R	+	2	0	THAP9	84046679	0.818000	0.29161	0.022000	0.16811	0.932000	0.56968	1.448000	0.35112	1.218000	0.43458	0.591000	0.81541	AGA	THAP9	-	NULL		0.383	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672		83827655	1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.028	C	C	83827655	G	C	83827655	3	2	185	1	0	0	0	0	1	0	0	0	15881	942	33	1	465	1	THAP9	4	83827655	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5164318	83827655	107326621	426	34701										
THAP9	79725	genome.wustl.edu	37	chr4	83827726	83827726	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gattaattgatgcacttgtaGaagagaaactactttctgaa	8	5	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:83827726G>A	ENST00000302236.5	+	3	577	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	176					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TGCACTTGTAGAAGAGAAACT	0.358																																																	0													64	64	64					4																	83827726		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.526G>A	4.37:g.83827726G>A	ENSP00000305533:p.Glu176Lys		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E176K	ENST00000302236.5	37	c.526	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799913	0.50208	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.37058	1.22	3.87	3.0	0.34707	.	0.441198	0.19366	N	0.116024	T	0.21267	0.0512	L	0.29908	0.895	0.27337	N	0.956627	P	0.42908	0.793	B	0.35655	0.207	T	0.07195	-1.0785	10	0.21540	T	0.41	-18.3958	9.459	0.38772	0.0:0.216:0.784:0.0	.	176	Q9H5L6	THAP9_HUMAN	K	176	ENSP00000305533:E176K	ENSP00000305533:E176K	E	+	1	0	THAP9	84046750	1.000000	0.71417	0.962000	0.40283	0.992000	0.81027	1.514000	0.35834	1.176000	0.42840	0.591000	0.81541	GAA	THAP9	-	NULL		0.358	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672		83827726	1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.972	A	A	83827726	G	A	83827726	3	1	185	1	0	0	0	0	1	0	0	0	15881	943	33	1	536	1	THAP9	4	83827726	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	71	83827726	107326550	427	34702										
AGPAT9	84803	genome.wustl.edu	37	chr4	84465744	84465744	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggagtcgattcttaaaaactCtgcttctgttggtgagtttt	10	6	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:84465744C>G	ENST00000395226.2	+	3	415	c.197C>G	c.(196-198)tCt>tGt	p.S66C	AGPAT9_ENST00000264409.4_Missense_Mutation_p.S66C	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	66					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTAAAAACTCTGCTTCTGTT	0.358																																																	0													176	186	182					4																	84465744		2203	4300	6503	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.197C>G	4.37:g.84465744C>G	ENSP00000378651:p.Ser66Cys		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.S66C	ENST00000395226.2	37	c.197	CCDS3606.1	4	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632409	0.46944	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.47177	0.85;0.85	5.13	5.13	0.70059	.	0.352305	0.30347	N	0.009821	T	0.45316	0.1336	M	0.68952	2.095	0.33055	D	0.53332	P	0.41643	0.758	B	0.36186	0.219	T	0.63825	-0.6549	10	0.46703	T	0.11	-1.8697	14.0293	0.64606	0.0:1.0:0.0:0.0	.	66	Q53EU6	GPAT3_HUMAN	C	66	ENSP00000378651:S66C;ENSP00000264409:S66C	ENSP00000264409:S66C	S	+	2	0	AGPAT9	84684768	0.984000	0.35163	0.913000	0.36048	0.684000	0.39900	3.714000	0.54889	2.682000	0.91365	0.549000	0.68633	TCT	AGPAT9	-	NULL		0.358	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT9	HGNC	protein_coding	OTTHUMT00000252821.3	C	NM_032717		84465744	1	no_errors	ENST00000264409	ensembl	human	known	70_37	missense	SNP	0.813	G	G	84465744	C	G	84465744	3	3	185	1	0	0	0	0	1	0	0	0	392	913	32	1	203	1	AGPAT9	4	84465744	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	638018	84465744	106688532	428	34703										
AFF1	4299	genome.wustl.edu	37	chr4	88048811	88048811	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagacaacaagcagaccttCacatgagggaggcaaaaaag	10	9	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88048811C>T	ENST00000307808.6	+	15	3319	c.2899C>T	c.(2899-2901)Cac>Tac	p.H967Y	AFF1_ENST00000395146.4_Missense_Mutation_p.H974Y|AFF1_ENST00000544085.1_Missense_Mutation_p.H605Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	967					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCAGACCTTCACATGAGGGA	0.378																																																	0													132	121	125					4																	88048811		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2899C>T	4.37:g.88048811C>T	ENSP00000305689:p.His967Tyr		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.H974Y	ENST00000307808.6	37	c.2920	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	7.973	0.749464	0.15778	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.58060	0.36;0.36;0.36	4.94	4.1	0.47936	.	0.277921	0.31290	N	0.007909	T	0.25865	0.0630	N	0.05383	-0.06	0.37232	D	0.905736	B;B;B	0.14438	0.01;0.004;0.004	B;B;B	0.14023	0.01;0.01;0.01	T	0.20273	-1.0280	10	0.02654	T	1	-16.9425	9.3757	0.38281	0.0:0.829:0.0:0.171	.	974;967;967	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	Y	974;967;605	ENSP00000378578:H974Y;ENSP00000305689:H967Y;ENSP00000440843:H605Y	ENSP00000305689:H967Y	H	+	1	0	AFF1	88267835	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.005000	0.29834	1.201000	0.43203	0.655000	0.94253	CAC	AFF1	-	pfam_TF_AF4/FMR2		0.378	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	C	NM_005935		88048811	1	no_errors	ENST00000395146	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88048811	C	T	88048811	3	4	185	1	0	0	0	0	1	0	0	0	356	826	29	1	2999	1	AFF1	4	88048811	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3583067	88048811	103105465	429	34704										
KLHL8	57563	genome.wustl.edu	37	chr4	88116574	88116574	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcttcaaaaataaaggaatCttctccatcaccatcactaa	3	11	5	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88116574C>G	ENST00000273963.5	-	2	459	c.118G>C	c.(118-120)Gat>Cat	p.D40H	KLHL8_ENST00000512111.1_Missense_Mutation_p.D40H|KLHL8_ENST00000425278.2_Missense_Mutation_p.D40H|KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000498875.2_Missense_Mutation_p.D40H	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	40					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATAAAGGAATCTTCTCCATCA	0.373																																																	0													161	160	161					4																	88116574		2203	4300	6503	SO:0001583	missense	57563			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.118G>C	4.37:g.88116574C>G	ENSP00000273963:p.Asp40His		Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D40H	ENST00000273963.5	37	c.118	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533528	0.64972	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000512111	T;T;D;T	0.81739	-0.95;-1.24;-1.53;-0.95	5.34	5.34	0.76211	BTB/POZ fold (1);	0.242253	0.43919	D	0.000503	T	0.73401	0.3582	N	0.14661	0.345	0.80722	D	1	B;B;B	0.28512	0.214;0.214;0.214	B;B;B	0.37091	0.241;0.241;0.159	T	0.70494	-0.4856	10	0.36615	T	0.2	.	19.0413	0.93000	0.0:1.0:0.0:0.0	.	40;40;40	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	H	40	ENSP00000273963:D40H;ENSP00000426451:D40H;ENSP00000408854:D40H;ENSP00000424131:D40H	ENSP00000273963:D40H	D	-	1	0	KLHL8	88335598	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	5.606000	0.67641	2.477000	0.83638	0.455000	0.32223	GAT	KLHL8	-	superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin		0.373	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	C			88116574	-1	no_errors	ENST00000273963	ensembl	human	known	70_37	missense	SNP	0.998	G	G	88116574	C	G	88116574	3	3	185	1	0	0	0	0	1	0	0	0	8415	913	32	1	1780	1	KLHL8	4	88116574	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	67763	88116574	103037702	430	34705										
HSD17B13	345275	genome.wustl.edu	37	chr4	88235080	88235080	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaagttctgatgtcagacctCtgtgaaagccaacagcggca	11	10	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88235080C>T	ENST00000328546.4	-	5	654	c.590G>A	c.(589-591)aGa>aAa	p.R197K	HSD17B13_ENST00000302219.6_Missense_Mutation_p.R161K	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	197						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TGTCAGACCTCTGTGAAAGCC	0.428																																																	0													96	93	94					4																	88235080		2203	4300	6503	SO:0001583	missense	345275				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.590G>A	4.37:g.88235080C>T	ENSP00000333300:p.Arg197Lys		A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R197K	ENST00000328546.4	37	c.590	CCDS3618.1	4	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348908	0.41599	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.87809	-2.3;-2.3	5.55	4.71	0.59529	NAD(P)-binding domain (1);	0.090404	0.45867	D	0.000323	T	0.73079	0.3541	N	0.11201	0.11	0.26677	N	0.971619	B;B	0.09022	0.002;0.002	B;B	0.13407	0.005;0.009	T	0.62473	-0.6847	10	0.42905	T	0.14	.	6.995	0.24777	0.0:0.7066:0.0:0.2934	.	161;197	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	K	161;197	ENSP00000305438:R161K;ENSP00000333300:R197K	ENSP00000305438:R161K	R	-	2	0	HSD17B13	88454104	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.286000	0.43496	1.327000	0.45338	0.655000	0.94253	AGA	HSD17B13	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR		0.428	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B13	HGNC	protein_coding	OTTHUMT00000253052.1	C	NM_178135		88235080	-1	no_errors	ENST00000328546	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88235080	C	T	88235080	3	4	185	1	0	0	0	0	1	0	0	0	7402	913	32	1	324	1	HSD17B13	4	88235080	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	118506	88235080	102919196	431	34706										
SPARCL1	8404	genome.wustl.edu	37	chr4	88403667	88403667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcttgagccagtctctcatcCgtagaggaaactgaatcact	8	11	4	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88403667C>T	ENST00000282470.6	-	8	2047	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	SPARCL1_ENST00000418378.1_Missense_Mutation_p.R526Q|SPARCL1_ENST00000503414.1_Missense_Mutation_p.R401Q	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	526					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GTCTCTCATCCGTAGAGGAAA	0.393																																																	0													98	93	95					4																	88403667		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1577G>A	4.37:g.88403667C>T	ENSP00000282470:p.Arg526Gln		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.R526Q	ENST00000282470.6	37	c.1577	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049104	0.93740	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.39787	1.7;1.7;1.06	5.51	4.65	0.58169	Osteonectin-like, conserved site (1);SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.94142	3.5	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.80457	-0.1374	10	0.87932	D	0	-15.9242	14.3589	0.66757	0.0:0.9251:0.0:0.0749	.	526	Q14515	SPRL1_HUMAN	Q	526;526;401;401	ENSP00000282470:R526Q;ENSP00000414856:R526Q;ENSP00000422903:R401Q	ENSP00000282470:R526Q	R	-	2	0	SPARCL1	88622691	0.999000	0.42202	1.000000	0.80357	0.919000	0.55068	4.580000	0.60942	2.756000	0.94617	0.655000	0.94253	CGG	SPARCL1	-	pfam_SPARC/Testican_Ca-bd-dom,pirsf_SPARC-like_p1		0.393	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88403667	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88403667	C	T	88403667	3	4	185	1	0	0	0	0	1	0	0	0	15026	652	23	2	433	2	SPARCL1	4	88403667	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	168587	88403667	102750609	432	34707										
DSPP	1834	genome.wustl.edu	37	chr4	88534379	88534379	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atagaggacacccagaagctCaaccatagagaaagcaaacg	9	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:88534379C>G	ENST00000282478.7	+	3	1074	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.L347L			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	347					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CCCAGAAGCTCAACCATAGAG	0.423																																																	0													38	38	38					4																	88534379		1892	4113	6005	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1041C>G	4.37:g.88534379C>G			A8MUI0|O95815	Silent	SNP	NULL	p.L347	ENST00000282478.7	37	c.1041	CCDS43248.1	4																																																																																			DSPP	-	NULL		0.423	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	C	NM_014208		88534379	1	no_errors	ENST00000282478	ensembl	human	known	70_37	silent	SNP	0.000	G	G	88534379	C	G	88534379	2	3	185	1	0	0	0	0	0	0	0	1	4792	813	29	1		1	DSPP	4	88534379	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	130712	88534379	102619897	433	34708										
GPRIN3	285513	genome.wustl.edu	37	chr4	90170445	90170445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggggacatgccgaaggttCgctagtgaggggggttggtt	20	5	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:90170445C>G	ENST00000609438.1	-	2	1335	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	GPRIN3_ENST00000333209.4_Missense_Mutation_p.E273Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	273										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCCGAAGGTTCGCTAGTGAGG	0.562																																																	0													75	79	78					4																	90170445		2203	4300	6503	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.817G>C	4.37:g.90170445C>G	ENSP00000476603:p.Glu273Gln		Q8IVE4	Missense_Mutation	SNP	NULL	p.E273Q	ENST00000609438.1	37	c.817	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	C	7.062	0.566519	0.13560	.	.	ENSG00000185477	ENST00000333209	T	0.09723	2.95	5.64	-11.3	0.00108	.	1.647680	0.03996	N	0.295687	T	0.03390	0.0098	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.30765	-0.9967	10	0.13108	T	0.6	3.472	11.2018	0.48745	0.0:0.2222:0.232:0.5458	.	273	Q6ZVF9	GRIN3_HUMAN	Q	273	ENSP00000328672:E273Q	ENSP00000328672:E273Q	E	-	1	0	GPRIN3	90389468	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.396000	0.01052	-2.912000	0.00307	-0.769000	0.03391	GAA	GPRIN3	-	NULL		0.562	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	C	NM_198281		90170445	-1	no_errors	ENST00000333209	ensembl	human	known	70_37	missense	SNP	0.000	G	G	90170445	C	G	90170445	3	3	185	1	0	0	0	0	1	0	0	0	6751	893	31	1	1517	1	GPRIN3	4	90170445	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1636066	90170445	100983831	434	34709										
PDLIM5	10611	genome.wustl.edu	37	chr4	95444881	95444881	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tatatttattacagctaaaaGatggcggcaaggcagcccag	10	8	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:95444881G>C	ENST00000317968.4	+	3	239	c.103G>C	c.(103-105)Gat>Cat	p.D35H	PDLIM5_ENST00000318007.5_Missense_Mutation_p.D35H|PDLIM5_ENST00000450793.1_Missense_Mutation_p.D35H|PDLIM5_ENST00000514743.1_Missense_Mutation_p.D35H|PDLIM5_ENST00000508216.1_Missense_Mutation_p.D35H|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000380180.3_Missense_Mutation_p.D35H|PDLIM5_ENST00000437932.1_Missense_Mutation_p.D35H|PDLIM5_ENST00000538141.1_Missense_Mutation_p.D35H	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	35	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACAGCTAAAAGATGGCGGCAA	0.348																																																	0													70	68	68					4																	95444881		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.103G>C	4.37:g.95444881G>C	ENSP00000321746:p.Asp35His		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.D35H	ENST00000317968.4	37	c.103	CCDS3641.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.411890|4.411890	0.83340|0.83340	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743|ENST00000513341	T;T;T;T;T;T;T;T;T|T	0.39997|0.30981	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05|1.51	5.96|5.96	5.96|5.96	0.96718|0.96718	PDZ/DHR/GLGF (4);|.	0.054531|.	0.64402|.	D|.	0.000001|.	T|T	0.60547|0.60547	0.2277|0.2277	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.993|.	D;D;D;D;D;D|.	0.91635|.	0.999;0.993;0.997;0.987;0.967;0.987|.	T|T	0.63668|0.63668	-0.6585|-0.6585	10|7	0.45353|0.87932	T|D	0.12|0	.|.	20.0147|20.0147	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	35;35;35;35;35;35|.	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3|.	.;.;PDLI5_HUMAN;.;.;.|.	H|N	35|2	ENSP00000398469:D35H;ENSP00000369527:D35H;ENSP00000322021:D35H;ENSP00000401579:D35H;ENSP00000439795:D35H;ENSP00000321746:D35H;ENSP00000424297:D35H;ENSP00000426804:D35H;ENSP00000424360:D35H|ENSP00000429577:K2N	ENSP00000321746:D35H|ENSP00000429577:K2N	D|K	+|+	1|3	0|2	PDLIM5|PDLIM5	95663904|95663904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.143000|9.143000	0.94623|0.94623	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAT|AAG	PDLIM5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.348	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	G			95444881	1	no_errors	ENST00000317968	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95444881	G	C	95444881	3	2	185	1	0	0	0	0	1	0	0	0	11707	942	33	1	109	1	PDLIM5	4	95444881	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5274436	95444881	95709395	435	34710										
PDLIM5	10611	genome.wustl.edu	37	chr4	95444938	95444938	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcgatgtggttctcagcattGatggaataaatgcacaagga	12	6	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:95444938G>C	ENST00000317968.4	+	3	296	c.160G>C	c.(160-162)Gat>Cat	p.D54H	PDLIM5_ENST00000318007.5_Missense_Mutation_p.D54H|PDLIM5_ENST00000450793.1_Missense_Mutation_p.D54H|PDLIM5_ENST00000514743.1_Missense_Mutation_p.D54H|PDLIM5_ENST00000508216.1_Missense_Mutation_p.D54H|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000380180.3_Missense_Mutation_p.D54H|PDLIM5_ENST00000437932.1_Missense_Mutation_p.D54H|PDLIM5_ENST00000538141.1_Missense_Mutation_p.D54H	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	54	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCTCAGCATTGATGGAATAAA	0.398																																																	0													125	116	119					4																	95444938		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.160G>C	4.37:g.95444938G>C	ENSP00000321746:p.Asp54His		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.D54H	ENST00000317968.4	37	c.160	CCDS3641.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.132913|4.132913	0.77662|0.77662	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743|ENST00000513341	T;T;T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	5.96|5.96	5.96|5.96	0.96718|0.96718	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86606|0.86606	0.5973|0.5973	M|M	0.91768|0.91768	3.24|3.24	0.80722|0.80722	D|D	1|1	P;D;P;D;P;B|.	0.76494|.	0.919;0.999;0.531;0.999;0.95;0.003|.	P;D;B;D;P;B|.	0.75020|.	0.88;0.964;0.376;0.985;0.824;0.067|.	D|D	0.88279|0.88279	0.2935|0.2935	10|5	0.87932|.	D|.	0|.	.|.	20.0147|20.0147	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	54;54;54;54;54;54|.	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3|.	.;.;PDLI5_HUMAN;.;.;.|.	H|F	54|21	ENSP00000398469:D54H;ENSP00000369527:D54H;ENSP00000322021:D54H;ENSP00000401579:D54H;ENSP00000439795:D54H;ENSP00000321746:D54H;ENSP00000424297:D54H;ENSP00000426804:D54H;ENSP00000424360:D54H|.	ENSP00000321746:D54H|.	D|L	+|+	1|3	0|2	PDLIM5|PDLIM5	95663961|95663961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.936000|5.936000	0.70153|0.70153	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAT|TTG	PDLIM5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.398	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	G			95444938	1	no_errors	ENST00000317968	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95444938	G	C	95444938	3	2	185	1	0	0	0	0	1	0	0	0	11707	1290	45	1	166	1	PDLIM5	4	95444938	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	57	95444938	95709338	436	34711										
SLC39A8	64116	genome.wustl.edu	37	chr4	103226232	103226232	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaacacagcaactgccttctCaacataactgtcgactttgg	6	12	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:103226232C>G	ENST00000394833.2	-	4	1065	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.E197Q|SLC39A8_ENST00000424970.2_Missense_Mutation_p.E197Q	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	197					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACTGCCTTCTCAACATAACTG	0.333																																																	0													72	72	72					4																	103226232		2203	4300	6503	SO:0001583	missense	64116				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.589G>C	4.37:g.103226232C>G	ENSP00000378310:p.Glu197Gln		B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	pfam_ZIP	p.E197Q	ENST00000394833.2	37	c.589	CCDS3656.1	4	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772891	0.49680	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.47869	0.83;0.83;0.83	5.26	5.26	0.73747	.	0.403189	0.25164	N	0.032651	T	0.41119	0.1145	N	0.19112	0.55	0.31854	N	0.621809	P;P;P	0.48089	0.905;0.773;0.713	P;P;P	0.49047	0.599;0.53;0.477	T	0.44832	-0.9302	10	0.30078	T	0.28	-28.2181	13.5894	0.61951	0.0:0.8444:0.1556:0.0	.	197;197;130	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	Q	197	ENSP00000394548:E197Q;ENSP00000349174:E197Q;ENSP00000378310:E197Q	ENSP00000349174:E197Q	E	-	1	0	SLC39A8	103445255	0.740000	0.28207	1.000000	0.80357	0.902000	0.53008	1.158000	0.31737	2.469000	0.83416	0.655000	0.94253	GAG	SLC39A8	-	pfam_ZIP		0.333	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A8	HGNC	protein_coding	OTTHUMT00000253798.1	C	NM_022154		103226232	-1	no_errors	ENST00000356736	ensembl	human	known	70_37	missense	SNP	1.000	G	G	103226232	C	G	103226232	3	3	185	1	0	0	0	0	1	0	0	0	14654	835	29	1	890	1	SLC39A8	4	103226232	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7781294	103226232	87928044	437	34712										
TET2	54790	genome.wustl.edu	37	chr4	106158243	106158243	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaccataaggctcttactctCaaatcacagaagcaagtaaa	6	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:106158243C>G	ENST00000540549.1	+	3	4004	c.3144C>G	c.(3142-3144)ctC>ctG	p.L1048L	TET2_ENST00000305737.2_Silent_p.L1048L|TET2_ENST00000394764.1_Silent_p.L1048L|TET2_ENST00000380013.4_Silent_p.L1048L|TET2_ENST00000413648.2_Silent_p.L1048L|TET2_ENST00000545826.1_Silent_p.L1048L|TET2_ENST00000513237.1_Silent_p.L1069L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1048					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTCTTACTCTCAAATCACAGA	0.448			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													76	73	74					4																	106158243		2203	4300	6503	SO:0001819	synonymous_variant	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3144C>G	4.37:g.106158243C>G			B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	NULL	p.L1048	ENST00000540549.1	37	c.3144	CCDS47120.1	4																																																																																			TET2	-	NULL		0.448	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106158243	1	no_errors	ENST00000380013	ensembl	human	known	70_37	silent	SNP	1.000	G	G	106158243	C	G	106158243	2	3	185	1	0	0	0	0	0	0	0	1	15800	813	29	1		1	TET2	4	106158243	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2932011	106158243	84996033	438	34713										
TET2	54790	genome.wustl.edu	37	chr4	106164850	106164850	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggaaggaatcccgctgtctCtggctgacaaactctactcg	11	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:106164850C>T	ENST00000540549.1	+	6	4578	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	TET2_ENST00000380013.4_Silent_p.L1240L|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Silent_p.L1261L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1240					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L1240V(1)|p.L1240fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCCGCTGTCTCTGGCTGACAA	0.552			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Substitution - Missense(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)|breast(1)											169	154	159					4																	106164850		692	1591	2283	SO:0001819	synonymous_variant	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3718C>T	4.37:g.106164850C>T			B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	NULL	p.L1240	ENST00000540549.1	37	c.3718	CCDS47120.1	4																																																																																			TET2	-	NULL		0.552	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106164850	1	no_errors	ENST00000380013	ensembl	human	known	70_37	silent	SNP	0.997	T	T	106164850	C	T	106164850	2	4	185	1	0	0	0	0	0	0	0	1	15800	912	32	1		1	TET2	4	106164850	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6607	106164850	84989426	439	34714										
COL25A1	84570	genome.wustl.edu	37	chr4	109841754	109841754	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttttgtcccggaggccctaGaggaccctaaaaaagaaaaa	9	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:109841754G>C	ENST00000399132.1	-	12	1245	c.715C>G	c.(715-717)Cta>Gta	p.L239V	COL25A1_ENST00000399126.1_Missense_Mutation_p.L239V|COL25A1_ENST00000399127.1_Missense_Mutation_p.L235V	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGAGGCCCTAGAGGACCCTAA	0.358																																																	0													140	125	130					4																	109841754		1829	4083	5912	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.715C>G	4.37:g.109841754G>C	ENSP00000382083:p.Leu239Val			Missense_Mutation	SNP	pfam_Collagen	p.L239V	ENST00000399132.1	37	c.715	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277076	0.23307	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.93247	-3.19;-3.19;-3.19	5.41	2.65	0.31530	.	0.522207	0.18836	N	0.129806	T	0.80193	0.4578	N	0.03268	-0.37	0.26962	N	0.965781	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.001	T	0.66760	-0.5842	9	.	.	.	-0.1105	5.855	0.18714	0.073:0.1373:0.647:0.1427	.	239;239	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	239;241;235;235;239;169	ENSP00000382083:L239V;ENSP00000382078:L235V;ENSP00000382077:L239V	.	L	-	1	2	COL25A1	110061203	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.304000	0.33482	0.308000	0.22923	0.650000	0.86243	CTA	COL25A1	-	pfam_Collagen		0.358	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	G	NM_032518		109841754	-1	no_errors	ENST00000399132	ensembl	human	known	70_37	missense	SNP	1.000	C	C	109841754	G	C	109841754	3	2	185	1	0	0	0	0	1	0	0	0	3689	933	33	1	1441	1	COL25A1	4	109841754	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3676904	109841754	81312522	440	34715										
CFI	3426	genome.wustl.edu	37	chr4	110667465	110667465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacacaggcagggatggaacGaggcagctcacaatcttttt	12	9	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:110667465G>A	ENST00000394634.2	-	11	1549	c.1342C>T	c.(1342-1344)Cgt>Tgt	p.R448C	CFI_ENST00000512148.1_Missense_Mutation_p.R441C|CFI_ENST00000394635.3_Missense_Mutation_p.R456C	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	448	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GGGATGGAACGAGGCAGCTCA	0.408																																																	0													173	151	159					4																	110667465		2203	4300	6503	SO:0001583	missense	3426			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"Complement system"	5394	protein-coding gene	gene with protein product	"Konglutinogen-activating factor", "C3b-inactivator"	217030	"I factor (complement)"	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1342C>T	4.37:g.110667465G>A	ENSP00000378130:p.Arg448Cys		O60442	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R448C	ENST00000394634.2	37	c.1342	CCDS34049.1	4	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062208	0.55432	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.88586	-2.4;-2.4;-2.4	5.73	-11.5	0.00074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.155260	0.01518	N	0.018226	D	0.85017	0.5601	L	0.38175	1.15	0.09310	N	1	D;D;D	0.60160	0.984;0.973;0.987	P;B;P	0.54372	0.684;0.275;0.75	T	0.80710	-0.1261	10	0.39692	T	0.17	1.0274	5.8846	0.18874	0.1603:0.1148:0.5514:0.1734	.	456;441;448	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	C	456;448;441	ENSP00000378131:R456C;ENSP00000378130:R448C;ENSP00000427438:R441C	ENSP00000378130:R448C	R	-	1	0	CFI	110886914	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.525000	0.00948	-1.980000	0.00990	-0.318000	0.08688	CGT	CFI	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.408	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	CFI	HGNC	protein_coding		G	NM_000204		110667465	-1	no_errors	ENST00000394634	ensembl	human	known	70_37	missense	SNP	0.000	A	A	110667465	G	A	110667465	3	1	185	1	0	0	0	0	1	0	0	0	3294	1058	37	1	421	1	CFI	4	110667465	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	825711	110667465	80486811	441	34716										
UGT8	7368	genome.wustl.edu	37	chr4	115589440	115589440	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagctctatgaagcactagtGaaggttatcaataatcccag	9	8	2	2	rs145525328		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:115589440G>T	ENST00000310836.6	+	5	1764	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	UGT8_ENST00000394511.3_Silent_p.V414V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	414					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAGCACTAGTGAAGGTTATCA	0.358																																																	0													83	82	82					4																	115589440		2203	4300	6503	SO:0001819	synonymous_variant	7368			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1242G>T	4.37:g.115589440G>T			B3KXU7|O00196	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V414	ENST00000310836.6	37	c.1242	CCDS3705.1	4																																																																																			UGT8	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.358	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	G	NM_003360		115589440	1	no_errors	ENST00000310836	ensembl	human	known	70_37	silent	SNP	0.518	T	T	115589440	G	T	115589440	2	4	185	1	0	0	0	0	0	0	0	1	16996	1277	45	3		3	UGT8	4	115589440	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4921975	115589440	75564836	442	34717										
SCLT1	132320	genome.wustl.edu	37	chr4	129878270	129878270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcttctttttgcttctcctCaagtagagccttcagaaaat	5	10	5	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:129878270C>G	ENST00000281142.5	-	13	1560	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	353					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGCTTCTCCTCAAGTAGAGCC	0.318																																																	0													94	90	92					4																	129878270		2202	4292	6494	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1057G>C	4.37:g.129878270C>G	ENSP00000281142:p.Glu353Gln		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.E353Q	ENST00000281142.5	37	c.1057	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719183	0.30503	.	.	ENSG00000151466	ENST00000281142	T	0.09445	2.98	5.17	3.43	0.39272	.	0.173230	0.49305	N	0.000159	T	0.10423	0.0255	L	0.60455	1.87	0.80722	D	1	B	0.17667	0.023	B	0.15052	0.012	T	0.12785	-1.0534	9	.	.	.	-5.7966	6.3706	0.21479	0.0:0.6827:0.1523:0.165	.	353	Q96NL6	SCLT1_HUMAN	Q	353	ENSP00000281142:E353Q	.	E	-	1	0	SCLT1	130097720	1.000000	0.71417	0.992000	0.48379	0.900000	0.52787	1.631000	0.37092	0.556000	0.29098	0.650000	0.86243	GAG	SCLT1	-	NULL		0.318	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	C	NM_144643		129878270	-1	no_errors	ENST00000281142	ensembl	human	known	70_37	missense	SNP	0.986	G	G	129878270	C	G	129878270	3	3	185	1	0	0	0	0	1	0	0	0	13936	835	29	1	1045	1	SCLT1	4	129878270	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	14288830	129878270	61276006	443	34718										
ARHGAP10	79658	genome.wustl.edu	37	chr4	148653506	148653506	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacctcgacagcccgtggttCcgggagaggatccgcgctca	13	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:148653506C>G	ENST00000336498.3	+	1	293	c.54C>G	c.(52-54)ttC>ttG	p.F18L		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCCCGTGGTTCCGGGAGAGGA	0.637																																																	0													39	38	38					4																	148653506		2203	4300	6503	SO:0001583	missense	79658			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.54C>G	4.37:g.148653506C>G	ENSP00000336923:p.Phe18Leu		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.F18L	ENST00000336498.3	37	c.54	CCDS34075.1	4	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340283	0.41398	.	.	ENSG00000071205	ENST00000336498	T	0.06371	3.31	4.25	4.25	0.50352	.	0.056940	0.64402	D	0.000001	T	0.09862	0.0242	M	0.67517	2.055	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.03545	-1.1026	10	0.59425	D	0.04	.	12.5625	0.56291	0.0:0.8319:0.1681:0.0	.	18	A1A4S6	RHG10_HUMAN	L	18	ENSP00000336923:F18L	ENSP00000336923:F18L	F	+	3	2	ARHGAP10	148872956	1.000000	0.71417	0.999000	0.59377	0.148000	0.21650	3.457000	0.53007	1.886000	0.54624	0.460000	0.39030	TTC	ARHGAP10	-	NULL		0.637	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1	C	NM_024605		148653506	1	no_errors	ENST00000336498	ensembl	human	known	70_37	missense	SNP	1.000	G	G	148653506	C	G	148653506	3	3	185	1	0	0	0	0	1	0	0	0	862	854	30	1	56	1	ARHGAP10	4	148653506	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	18775236	148653506	42500770	444	34719										
SH3D19	152503	genome.wustl.edu	37	chr4	152065075	152065075	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccttacgtttggtctgcttCtaagatgttcatcaagtgga	9	8	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:152065075C>G	ENST00000409252.2	-	12	2146	c.1439G>C	c.(1438-1440)aGa>aCa	p.R480T	RP11-372K14.2_ENST00000603472.1_RNA|SH3D19_ENST00000304527.4_Missense_Mutation_p.R480T|SH3D19_ENST00000455740.1_Missense_Mutation_p.R457T|SH3D19_ENST00000427414.2_Missense_Mutation_p.R421T|SH3D19_ENST00000409598.4_Missense_Mutation_p.R457T|SH3D19_ENST00000424281.1_Missense_Mutation_p.R421T|SH3D19_ENST00000514152.1_Missense_Mutation_p.R457T			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	480					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGGTCTGCTTCTAAGATGTTC	0.378																																																	0													154	146	148					4																	152065075		2203	4300	6503	SO:0001583	missense	152503			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1439G>C	4.37:g.152065075C>G	ENSP00000386848:p.Arg480Thr		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.R480T	ENST00000409252.2	37	c.1439	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201229	0.22121	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.69175	-0.38;2.6;-0.38;-0.37;-0.37;2.6;-0.38	5.68	2.58	0.30949	.	.	.	.	.	T	0.54631	0.1870	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.25609	0.08;0.13;0.12;0.025	B;B;B;B	0.32624	0.045;0.098;0.149;0.045	T	0.42965	-0.9420	9	0.20046	T	0.44	-7.2411	4.3606	0.11201	0.0:0.4799:0.1768:0.3433	.	480;457;421;235	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	T	457;480;457;421;421;480;457	ENSP00000387030:R457T;ENSP00000302913:R480T;ENSP00000416708:R457T;ENSP00000404542:R421T;ENSP00000415694:R421T;ENSP00000386848:R480T;ENSP00000423449:R457T	ENSP00000302913:R480T	R	-	2	0	SH3D19	152284525	0.003000	0.15002	0.154000	0.22540	0.755000	0.42902	0.165000	0.16564	0.745000	0.32763	0.561000	0.74099	AGA	SH3D19	-	NULL		0.378	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	C	NM_001009555		152065075	-1	no_errors	ENST00000304527	ensembl	human	known	70_37	missense	SNP	0.008	G	G	152065075	C	G	152065075	3	3	185	1	0	0	0	0	1	0	0	0	14279	913	32	1	969	1	SH3D19	4	152065075	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3411569	152065075	39089201	445	34720										
FBXW7	55294	genome.wustl.edu	37	chr4	153244184	153244184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctccaatgtgactaggtttCgaataaattcacccgttttc	6	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:153244184C>T	ENST00000281708.4	-	12	3202	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	FBXW7_ENST00000296555.5_Missense_Mutation_p.R540Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R578Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R482Q|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Missense_Mutation_p.R658Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R658Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658Q(2)|p.R419Q(1)|p.R578Q(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GACTAGGTTTCGAATAAATTC	0.473			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	5	Substitution - Missense(4)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)											166	164	165					4																	153244184		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1973G>A	4.37:g.153244184C>T	ENSP00000281708:p.Arg658Gln		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R658Q	ENST00000281708.4	37	c.1973	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479047	0.63849	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.74546	2.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.993;0.996;0.996	T	0.16188	-1.0411	10	0.40728	T	0.16	-10.7715	19.7667	0.96346	0.0:1.0:0.0:0.0	.	482;658;540;578	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	658;540;578;482	ENSP00000281708:R658Q;ENSP00000296555:R540Q;ENSP00000263981:R578Q;ENSP00000377528:R482Q	ENSP00000263981:R578Q	R	-	2	0	FBXW7	153463634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.681000	0.91329	0.655000	0.94253	CGA	FBXW7	-	smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153244184	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	T	T	153244184	C	T	153244184	3	4	185	1	0	0	0	0	1	0	0	0	5787	884	31	1	154	1	FBXW7	4	153244184	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1179109	153244184	37910092	446	34721										
FBXW7	55294	genome.wustl.edu	37	chr4	153258986	153258986	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caatgaaatgaagtctcgttGaaactggggttctatcactt	9	7	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:153258986G>C	ENST00000281708.4	-	5	2058	c.829C>G	c.(829-831)Caa>Gaa	p.Q277E	FBXW7_ENST00000296555.5_Missense_Mutation_p.Q159E|FBXW7_ENST00000263981.5_Missense_Mutation_p.Q197E|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000393956.3_Missense_Mutation_p.Q101E|FBXW7_ENST00000603548.1_Missense_Mutation_p.Q277E|FBXW7_ENST00000603841.1_Missense_Mutation_p.Q277E	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	277					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AAGTCTCGTTGAAACTGGGGT	0.363			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											180	175	177					4																	153258986		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.829C>G	4.37:g.153258986G>C	ENSP00000281708:p.Gln277Glu		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q277E	ENST00000281708.4	37	c.829	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807571	0.90623	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.63	5.63	0.86233	F-box domain, Skp2-like (1);	0.108406	0.64402	D	0.000004	T	0.69984	0.3172	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;P;P;P	0.61397	0.776;0.837;0.888;0.888	T	0.73895	-0.3838	10	0.87932	D	0	-16.9009	19.6704	0.95910	0.0:0.0:1.0:0.0	.	101;277;159;197	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	E	277;159;197;101	ENSP00000281708:Q277E;ENSP00000296555:Q159E;ENSP00000263981:Q197E;ENSP00000377528:Q101E	ENSP00000263981:Q197E	Q	-	1	0	FBXW7	153478436	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.793000	0.99091	2.641000	0.89580	0.650000	0.86243	CAA	FBXW7	-	superfamily_F-box_dom_cyclin-like		0.363	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153258986	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C	C	153258986	G	C	153258986	3	2	185	1	0	0	0	0	1	0	0	0	5787	1299	45	1	1326	1	FBXW7	4	153258986	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	14802	153258986	37895290	447	34722										
DCHS2	54798	genome.wustl.edu	37	chr4	155157160	155157160	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtgaaaaaatactgatcttGagtgaaaatgggctcaaatt	10	4	2	4	rs200042662	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:155157160G>C	ENST00000357232.4	-	25	7278	c.7279C>G	c.(7279-7281)Caa>Gaa	p.Q2427E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2427	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TACTGATCTTGAGTGAAAATG	0.448																																																	0													86	86	86					4																	155157160		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7279C>G	4.37:g.155157160G>C	ENSP00000349768:p.Gln2427Glu		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q2427E	ENST00000357232.4	37	c.7279	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056142	0.76074	.	.	ENSG00000197410	ENST00000357232	T	0.60920	0.15	6.04	6.04	0.98038	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.75910	0.3914	M	0.83012	2.62	0.80722	D	1	D	0.69078	0.997	P	0.58130	0.833	T	0.73799	-0.3869	10	0.36615	T	0.2	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2427	Q6V1P9	PCD23_HUMAN	E	2427	ENSP00000349768:Q2427E	ENSP00000349768:Q2427E	Q	-	1	0	DCHS2	155376610	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.595000	0.67563	2.873000	0.98535	0.563000	0.77884	CAA	DCHS2	-	superfamily_Cadherin-like,pfscan_Cadherin		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155157160	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155157160	G	C	155157160	3	2	185	1	0	0	0	0	1	0	0	0	4293	1299	45	1	1475	1	DCHS2	4	155157160	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1898174	155157160	35997116	448	34723										
DCHS2	54798	genome.wustl.edu	37	chr4	155305547	155305547	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccttcactggttttgcgttCtcttcctggcttctgaacac	7	13	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:155305547C>G	ENST00000357232.4	-	2	206	c.207G>C	c.(205-207)gaG>gaC	p.E69D	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		gttttgcgttctcttcctggc	0.502																																																	0													228	166	187					4																	155305547		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.207G>C	4.37:g.155305547C>G	ENSP00000349768:p.Glu69Asp		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E69D	ENST00000357232.4	37	c.207	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	3.054	-0.194673	0.06259	.	.	ENSG00000197410	ENST00000357232	T	0.75367	-0.93	3.0	1.14	0.20703	Cadherin (1);Cadherin-like (1);	1.197550	0.06538	U	0.742765	T	0.54078	0.1836	N	0.14661	0.345	0.09310	N	1	B	0.31949	0.348	B	0.37015	0.239	T	0.45366	-0.9266	10	0.06891	T	0.86	.	3.9026	0.09167	0.0:0.6015:0.2542:0.1443	.	69	Q6V1P9	PCD23_HUMAN	D	69	ENSP00000349768:E69D	ENSP00000349768:E69D	E	-	3	2	DCHS2	155524997	0.007000	0.16637	0.001000	0.08648	0.013000	0.08279	0.453000	0.21811	0.284000	0.22305	0.456000	0.33151	GAG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like		0.502	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	C	NM_001142552		155305547	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.001	G	G	155305547	C	G	155305547	3	3	185	1	0	0	0	0	1	0	0	0	4293	912	32	1	8735	1	DCHS2	4	155305547	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	148387	155305547	35848729	449	34724										
DCHS2	54798	genome.wustl.edu	37	chr4	155410577	155410577	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctcaccaggcaggtggcaGagagtgggggctctccgagg	18	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:155410577G>A	ENST00000339452.1	-	1	2291	c.1931C>T	c.(1930-1932)tCt>tTt	p.S644F	DCHS2_ENST00000456341.2_Missense_Mutation_p.S637F|DCHS2_ENST00000443500.1_Missense_Mutation_p.S644F	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1768	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCAGGTGGCAGAGAGTGGGGG	0.592																																																	0													50	54	53					4																	155410577		692	1591	2283	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1931C>T	4.37:g.155410577G>A	ENSP00000345062:p.Ser644Phe		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S644F	ENST00000339452.1	37	c.1931	CCDS47150.1	4	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554855	0.45487	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.55052	0.54;0.54;0.54	5.3	5.3	0.74995	.	.	.	.	.	T	0.53530	0.1802	L	0.43598	1.365	0.42739	D	0.99373	B;P	0.41008	0.372;0.735	B;P	0.46510	0.34;0.519	T	0.42172	-0.9467	9	0.20519	T	0.43	.	17.7051	0.88306	0.0:0.0:1.0:0.0	.	644;644	E9PG03;E9PC11	.;.	F	644;644;637;644	ENSP00000345062:S644F;ENSP00000408543:S637F;ENSP00000395539:S644F	ENSP00000345062:S644F	S	-	2	0	DCHS2	155630027	1.000000	0.71417	0.993000	0.49108	0.648000	0.38561	6.786000	0.75094	2.761000	0.94854	0.650000	0.86243	TCT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	G	NM_001142552		155410577	-1	no_errors	ENST00000339452	ensembl	human	known	70_37	missense	SNP	1.000	A	A	155410577	G	A	155410577	3	1	185	1	0	0	0	0	1	0	0	0	4293	942	33	1	9153	1	DCHS2	4	155410577	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	105030	155410577	35743699	450	34725										
FGG	2266	genome.wustl.edu	37	chr4	155531224	155531224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accttcatcagttacctttcCcagtgatatcatggatttgc	6	11	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:155531224C>T	ENST00000336098.3	-	5	565	c.527G>A	c.(526-528)gGg>gAg	p.G176E	FGG_ENST00000405164.1_Missense_Mutation_p.G176E|FGG_ENST00000404648.3_Missense_Mutation_p.G176E|FGG_ENST00000407946.1_Missense_Mutation_p.G176E	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	176	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTTACCTTTCCCAGTGATATC	0.378																																																	0													182	165	171					4																	155531224		2203	4300	6503	SO:0001583	missense	2266				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.527G>A	4.37:g.155531224C>T	ENSP00000336829:p.Gly176Glu		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G176E	ENST00000336098.3	37	c.527	CCDS3788.1	4	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295037	0.81025	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946;ENST00000443553;ENST00000393846	D;T;D;T;T;T	0.97161	-4.27;0.33;-4.27;0.32;2.08;2.08	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.98676	0.9556	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;1.0;1.0;1.0	D	0.99387	1.0924	10	0.72032	D	0.01	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	176;176;176;176	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	E	176;176;176;176;73;73	ENSP00000384860:G176E;ENSP00000384101:G176E;ENSP00000336829:G176E;ENSP00000384552:G176E;ENSP00000407562:G73E;ENSP00000377429:G73E	ENSP00000336829:G176E	G	-	2	0	FGG	155750674	1.000000	0.71417	0.999000	0.59377	0.485000	0.33311	5.453000	0.66645	2.724000	0.93272	0.655000	0.94253	GGG	FGG	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.378	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	C	NM_021870		155531224	-1	no_errors	ENST00000336098	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155531224	C	T	155531224	3	4	185	1	0	0	0	0	1	0	0	0	5888	623	22	4	873	4	FGG	4	155531224	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	120647	155531224	35623052	451	34726										
GUCY1A3	2982	genome.wustl.edu	37	chr4	156632145	156632145	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaccccagtcctcgctggtGattcccacatcgctattctg	7	15	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:156632145G>A	ENST00000296518.7	+	6	1037	c.828G>A	c.(826-828)gtG>gtA	p.V276V	GUCY1A3_ENST00000511108.1_Silent_p.V276V|GUCY1A3_ENST00000455639.2_Silent_p.V276V|GUCY1A3_ENST00000511507.1_Silent_p.V276V|GUCY1A3_ENST00000513574.1_Silent_p.V276V|GUCY1A3_ENST00000506455.1_Silent_p.V276V|GUCY1A3_ENST00000393832.3_Silent_p.V18V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	276					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCTCGCTGGTGATTCCCACAT	0.463																																																	0													110	104	106					4																	156632145		2203	4300	6503	SO:0001819	synonymous_variant	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.828G>A	4.37:g.156632145G>A			D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V276	ENST00000296518.7	37	c.828	CCDS34085.1	4																																																																																			GUCY1A3	-	pfam_Haem_no_assoc-bd		0.463	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	G			156632145	1	no_errors	ENST00000296518	ensembl	human	known	70_37	silent	SNP	0.935	A	A	156632145	G	A	156632145	2	1	185	1	0	0	0	0	0	0	0	1	6914	1277	45	1		1	GUCY1A3	4	156632145	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1100921	156632145	34522131	452	34727										
SPATA4	132851	genome.wustl.edu	37	chr4	177114112	177114112	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aattacaaagaacttactctCgatgtgttaataaagtgtaa	6	5	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:177114112C>G	ENST00000280191.2	-	3	572	c.464G>C	c.(463-465)cGa>cCa	p.R155P	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	155						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		AACTTACTCTCGATGTGTTAA	0.279																																																	0													53	57	56					4																	177114112		2202	4295	6497	SO:0001583	missense	132851			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.464G>C	4.37:g.177114112C>G	ENSP00000280191:p.Arg155Pro		Q8NCS5|Q8WW15	Missense_Mutation	SNP	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain	p.R155P	ENST00000280191.2	37	c.464	CCDS3826.1	4	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262986	0.59431	.	.	ENSG00000150628	ENST00000280191	T	0.25085	1.82	5.45	-1.16	0.09678	.	0.972481	0.08409	N	0.950313	T	0.41926	0.1180	L	0.55103	1.725	0.38896	D	0.957228	D	0.65815	0.995	D	0.66979	0.948	T	0.51036	-0.8756	10	0.72032	D	0.01	.	9.91	0.41399	0.0:0.4225:0.0:0.5775	.	155	Q8NEY3	SPAT4_HUMAN	P	155	ENSP00000280191:R155P	ENSP00000280191:R155P	R	-	2	0	SPATA4	177351106	0.400000	0.25295	0.935000	0.37517	0.975000	0.68041	-0.125000	0.10579	-0.123000	0.11745	0.655000	0.94253	CGA	SPATA4	-	pfam_DUF1042,superfamily_CH-domain		0.279	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA4	HGNC	protein_coding	OTTHUMT00000362326.1	C	NM_144644		177114112	-1	no_errors	ENST00000280191	ensembl	human	known	70_37	missense	SNP	0.333	G	G	177114112	C	G	177114112	3	3	185	1	0	0	0	0	1	0	0	0	15040	884	31	1	469	1	SPATA4	4	177114112	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	20481967	177114112	14040164	453	34728										
C4orf41	60684	genome.wustl.edu	37	chr4	184606283	184606283	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctcggatagaaaagaacctCataaatgttttaatggtagg	9	5	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:184606283C>T	ENST00000334690.6	+	16	1816	c.1614C>T	c.(1612-1614)ctC>ctT	p.L538L	TRAPPC11_ENST00000357207.4_Silent_p.L538L|TRAPPC11_ENST00000512476.1_Silent_p.L144L	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	538					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.L538L(1)									AAAAGAACCTCATAAATGTTT	0.294																																																	1	Substitution - coding silent(1)	large_intestine(1)											77	86	83					4																	184606283		2197	4297	6494	SO:0001819	synonymous_variant	60684				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1614C>T	4.37:g.184606283C>T			A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.L538	ENST00000334690.6	37	c.1614	CCDS34112.1	4																																																																																			TRAPPC11	-	NULL		0.294	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	C	NM_021942		184606283	1	no_errors	ENST00000334690	ensembl	human	known	70_37	silent	SNP	0.997	T	T	184606283	C	T	184606283	2	4	185	1	0	0	0	0	0	0	0	1	2275	813	29	1		1	C4orf41	4	184606283	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7492171	184606283	6547993	454	34729										
KIAA1430	57587	genome.wustl.edu	37	chr4	186085307	186085307	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcataccaactgttggtttCacggcctcaagccttttcaa	6	12	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr4:186085307C>T	ENST00000458385.2	-	4	1466	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		449										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CTGTTGGTTTCACGGCCTCAA	0.393																																																	0													128	119	122					4																	186085307		1895	4116	6011	SO:0001819	synonymous_variant	57587																														ENST00000458385.2:c.1347G>A	4.37:g.186085307C>T			B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	NULL	p.V449	ENST00000458385.2	37	c.1347	CCDS47168.1	4																																																																																			KIAA1430	-	NULL		0.393	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	C			186085307	-1	no_errors	ENST00000458385	ensembl	human	novel	70_37	silent	SNP	1.000	T	T	186085307	C	T	186085307	2	4	185	1	0	0	0	0	0	0	0	1	8252	813	29	1		1	KIAA1430	4	186085307	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1479024	186085307	5068969	455	34730										
EXOC3	11336	genome.wustl.edu	37	chr5	453673	453673	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcagcacgcaggggctctctGatgagctggctaagcagctg	15	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:453673G>T	ENST00000512944.1	+	4	742	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	EXOC3_ENST00000315013.5_Missense_Mutation_p.D185Y	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	196					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGGGCTCTCTGATGAGCTGGC	0.587																																																	0													63	66	65					5																	453673		2057	4201	6258	SO:0001583	missense	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.553G>T	5.37:g.453673G>T	ENSP00000425587:p.Asp185Tyr		Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	pfam_Sec6	p.D185Y	ENST00000512944.1	37	c.553	CCDS54830.1	5	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729181	0.69074	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.08008	3.14;3.14	5.58	5.58	0.84498	.	0.245083	0.47093	D	0.000244	T	0.23054	0.0557	L	0.48642	1.525	0.58432	D	0.999992	P	0.47677	0.899	D	0.64237	0.923	T	0.00036	-1.2258	10	0.62326	D	0.03	-19.8139	17.0535	0.86526	0.0:0.0:1.0:0.0	.	196	O60645	EXOC3_HUMAN	Y	185;185;195	ENSP00000425587:D185Y;ENSP00000323377:D185Y	ENSP00000323377:D185Y	D	+	1	0	EXOC3	506673	1.000000	0.71417	0.120000	0.21714	0.977000	0.68977	7.511000	0.81718	2.641000	0.89580	0.561000	0.74099	GAT	EXOC3	-	pfam_Sec6		0.587	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	G	NM_007277		453673	1	no_errors	ENST00000315013	ensembl	human	known	70_37	missense	SNP	0.974	T	T	453673	G	T	453673	3	4	185	1	0	0	0	0	1	0	0	0	5315	1290	45	3	563	3	EXOC3	5	453673	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		453673	180461587	456	34731										
EXOC3	11336	genome.wustl.edu	37	chr5	465238	465238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctccccagaggatgacggccGaggcgcaccggcgcgtggtg	17	14	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:465238G>A	ENST00000512944.1	+	11	1978	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	EXOC3_ENST00000315013.5_Missense_Mutation_p.E597K|CTD-2228K2.5_ENST00000510714.1_5'Flank	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	608					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GATGACGGCCGAGGCGCACCG	0.692																																																	0													26	32	30					5																	465238		2026	4154	6180	SO:0001583	missense	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1789G>A	5.37:g.465238G>A	ENSP00000425587:p.Glu597Lys		Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	pfam_Sec6	p.E597K	ENST00000512944.1	37	c.1789	CCDS54830.1	5	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928301	0.34002	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.08720	3.06;3.06	4.61	4.61	0.57282	.	0.101956	0.64402	D	0.000004	T	0.08313	0.0207	L	0.46819	1.47	0.46849	D	0.999228	B	0.29037	0.231	B	0.29598	0.104	T	0.19976	-1.0289	10	0.28530	T	0.3	-36.4699	9.0419	0.36322	0.1023:0.0:0.8977:0.0	.	608	O60645	EXOC3_HUMAN	K	597;597;492	ENSP00000425587:E597K;ENSP00000323377:E597K	ENSP00000323377:E597K	E	+	1	0	EXOC3	518238	1.000000	0.71417	0.931000	0.37212	0.905000	0.53344	6.925000	0.75829	2.254000	0.74563	0.460000	0.39030	GAG	EXOC3	-	pfam_Sec6		0.692	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	G	NM_007277		465238	1	no_errors	ENST00000315013	ensembl	human	known	70_37	missense	SNP	0.981	A	A	465238	G	A	465238	3	1	185	1	0	0	0	0	1	0	0	0	5315	1059	37	1	1827	1	EXOC3	5	465238	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11565	465238	180450022	457	34732										
KIAA0947	23379	genome.wustl.edu	37	chr5	5464745	5464745	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctgccagggcccggaccctCaacatcctcaaagggaatat	9	14	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:5464745C>T	ENST00000296564.7	+	13	5520	c.5298C>T	c.(5296-5298)ctC>ctT	p.L1766L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1766					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCCGGACCCTCAACATCCTCA	0.517																																																	0													36	36	36					5																	5464745		1908	4114	6022	SO:0001819	synonymous_variant	23379																														ENST00000296564.7:c.5298C>T	5.37:g.5464745C>T			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	superfamily_Vitellinogen_superhlx	p.L1766	ENST00000296564.7	37	c.5298	CCDS47187.1	5																																																																																			KIAA0947	-	NULL		0.517	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	C			5464745	1	no_errors	ENST00000296564	ensembl	human	known	70_37	silent	SNP	0.997	T	T	5464745	C	T	5464745	2	4	185	1	0	0	0	0	0	0	0	1	8222	813	29	1		1	KIAA0947	5	5464745	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4999507	5464745	175450515	458	34733										
MED10	84246	genome.wustl.edu	37	chr5	6374449	6374449	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtcttaccttcatggtgtcGatcttgcctttaacttgctc	7	11	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:6374449G>A	ENST00000255764.3	-	3	407	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	99					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TCATGGTGTCGATCTTGCCTT	0.423																																																	0													193	185	187					5																	6374449		2203	4300	6503	SO:0001819	synonymous_variant	84246				CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"NUT2 homolog (S. cerevisiae)"	612382	"mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.297C>T	5.37:g.6374449G>A			C6G491	Silent	SNP	pfam_Mediator_Med10	p.I99	ENST00000255764.3	37	c.297	CCDS34134.1	5																																																																																			MED10	-	pfam_Mediator_Med10		0.423	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED10	HGNC	protein_coding	OTTHUMT00000365714.1	G	NM_032286		6374449	-1	no_errors	ENST00000255764	ensembl	human	known	70_37	silent	SNP	0.019	A	A	6374449	G	A	6374449	2	1	185	1	0	0	0	0	0	0	0	1	9449	1048	37	1		1	MED10	5	6374449	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	909704	6374449	174540811	459	34734										
CCT5	22948	genome.wustl.edu	37	chr5	10261015	10261015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcgctgggtaggaggacctGaaattgaggtaggatgttcc	15	6	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:10261015G>A	ENST00000280326.4	+	7	1405	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	CCT5_ENST00000515676.1_Missense_Mutation_p.E291K|CCT5_ENST00000506600.1_Missense_Mutation_p.E236K|CCT5_ENST00000515390.1_Missense_Mutation_p.E274K|CCT5_ENST00000503026.1_Missense_Mutation_p.E308K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	329					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGGAGGACCTGAAATTGAGGT	0.453																																																	0													239	248	245					5																	10261015		2203	4300	6503	SO:0001583	missense	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.985G>A	5.37:g.10261015G>A	ENSP00000280326:p.Glu329Lys		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.E329K	ENST00000280326.4	37	c.985	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.132664	0.97310	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94102	0.8109	H	0.97983	4.12	0.80722	D	1	D;P;D;D;D;D	0.89917	0.998;0.908;0.999;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	0.976;0.759;0.976;1.0;1.0;1.0	D	0.95685	0.8735	10	0.72032	D	0.01	-39.0978	19.0925	0.93233	0.0:0.0:1.0:0.0	.	236;274;178;327;329;329	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	K	329;308;274;302;291;236	ENSP00000280326:E329K;ENSP00000423318:E308K;ENSP00000426923:E274K;ENSP00000427297:E291K;ENSP00000423052:E236K	ENSP00000280326:E329K	E	+	1	0	CCT5	10314015	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.181000	0.94874	2.746000	0.94184	0.586000	0.80456	GAA	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi		0.453	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	G			10261015	1	no_errors	ENST00000280326	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10261015	G	A	10261015	3	1	185	1	0	0	0	0	1	0	0	0	2961	1291	45	1	1011	1	CCT5	5	10261015	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3886566	10261015	170654245	460	34735										
DNAH5	1767	genome.wustl.edu	37	chr5	13771068	13771068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aactgcagtcaatatcatagGaagtgaggaagtgttcagac	11	6	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:13771068G>A	ENST00000265104.4	-	56	9499	c.9395C>T	c.(9394-9396)tCc>tTc	p.S3132F	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3132	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATATCATAGGAAGTGAGGAA	0.388									Kartagener syndrome																																								0													67	64	65					5																	13771068		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9395C>T	5.37:g.13771068G>A	ENSP00000265104:p.Ser3132Phe		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S3132F	ENST00000265104.4	37	c.9395	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186673	0.57909	.	.	ENSG00000039139	ENST00000265104	T	0.44482	0.92	5.71	5.71	0.89125	Dynein heavy chain, P-loop containing D4 domain (1);	0.237751	0.43919	D	0.000518	T	0.61726	0.2370	M	0.74546	2.27	0.49483	D	0.999795	P	0.36110	0.537	P	0.49361	0.608	T	0.62511	-0.6839	10	0.72032	D	0.01	.	19.8603	0.96781	0.0:0.0:1.0:0.0	.	3132	Q8TE73	DYH5_HUMAN	F	3132	ENSP00000265104:S3132F	ENSP00000265104:S3132F	S	-	2	0	DNAH5	13824068	0.988000	0.35896	0.992000	0.48379	0.454000	0.32378	3.923000	0.56469	2.681000	0.91329	0.655000	0.94253	TCC	DNAH5	-	NULL		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13771068	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	0.998	A	A	13771068	G	A	13771068	3	1	185	1	0	0	0	0	1	0	0	0	4614	1174	41	1	4575	1	DNAH5	5	13771068	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3510053	13771068	167144192	461	34736										
DNAH5	1767	genome.wustl.edu	37	chr5	13922308	13922308	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcgaatgttagctgcgtcctGaaggccctcgagctcgcccc	12	15	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:13922308G>A	ENST00000265104.4	-	5	672	c.568C>T	c.(568-570)Cag>Tag	p.Q190*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	190	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGCGTCCTGAAGGCCCTCG	0.577									Kartagener syndrome																																								0													81	72	75					5																	13922308		2203	4300	6503	SO:0001587	stop_gained	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.568C>T	5.37:g.13922308G>A	ENSP00000265104:p.Gln190*		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q190*	ENST00000265104.4	37	c.568	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	.	19.49	3.838046	0.71373	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.55	5.55	0.83447	.	0.287055	0.33792	N	0.004548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.7619	0.62971	0.0736:0.0:0.9264:0.0	.	.	.	.	X	190	.	ENSP00000265104:Q190X	Q	-	1	0	DNAH5	13975308	1.000000	0.71417	0.071000	0.20095	0.109000	0.19521	5.134000	0.64770	2.610000	0.88304	0.561000	0.74099	CAG	DNAH5	-	NULL		0.577	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13922308	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	nonsense	SNP	0.112	A	A	13922308	G	A	13922308	4	1	185	1	0	0	0	0	0	1	0	0	4614	1299	45	1	13606	1	DNAH5	5	13922308	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	151240	13922308	166992952	462	34737										
FBXL7	23194	genome.wustl.edu	37	chr5	15937289	15937289	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagcacaccaacccggctttCttctgaagggacagagttca	10	12	3	2	rs537284845	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:15937289C>G	ENST00000504595.1	+	4	1951	c.1470C>G	c.(1468-1470)ttC>ttG	p.F490L	FBXL7_ENST00000329673.7_Missense_Mutation_p.F478L|FBXL7_ENST00000510662.1_Missense_Mutation_p.F443L|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	490					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCCGGCTTTCTTCTGAAGGG	0.517													C|||	4	0.000798722	0	0	5008	,	,		16207	0.004		0	False		,,,				2504	0																0													11	13	12					5																	15937289		2041	4197	6238	SO:0001583	missense	23194			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1470C>G	5.37:g.15937289C>G	ENSP00000423630:p.Phe490Leu		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.F490L	ENST00000504595.1	37	c.1470	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581349	0.65992	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.12672	2.66;2.77;2.7	5.36	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.46741	1.465	0.53005	D	0.999969	D	0.69078	0.997	P	0.61132	0.884	T	0.00706	-1.1601	10	0.72032	D	0.01	.	7.7982	0.29160	0.0:0.6653:0.0:0.3347	.	490	Q9UJT9	FBXL7_HUMAN	L	490;443;478	ENSP00000423630:F490L;ENSP00000425184:F443L;ENSP00000329632:F478L	ENSP00000329632:F478L	F	+	3	2	FBXL7	15990289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.700000	0.37815	0.582000	0.29556	0.650000	0.86243	TTC	FBXL7	-	NULL		0.517	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	C	NM_012304		15937289	1	no_errors	ENST00000504595	ensembl	human	known	70_37	missense	SNP	1.000	G	G	15937289	C	G	15937289	3	3	185	1	0	0	0	0	1	0	0	0	5742	912	32	1	1484	1	FBXL7	5	15937289	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2014981	15937289	164977971	463	34738										
PDZD2	23037	genome.wustl.edu	37	chr5	32074402	32074402	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaacctcacggactctgcaGaggcccccaaggggagccct	11	17	2	1	rs369858348		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:32074402G>T	ENST00000438447.1	+	18	3578	c.3190G>T	c.(3190-3192)Gag>Tag	p.E1064*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.E1064*			O15018	PDZD2_HUMAN	PDZ domain containing 2	1064					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGACTCTGCAGAGGCCCCCAA	0.567																																																	0													102	119	113					5																	32074402		2203	4300	6503	SO:0001587	stop_gained	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3190G>T	5.37:g.32074402G>T	ENSP00000402033:p.Glu1064*		Q9BXD4	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1064*	ENST00000438447.1	37	c.3190	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.970964	0.99021	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.12	-0.47	0.12131	.	1.599050	0.03605	N	0.234021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	4.4372	0.11555	0.5065:0.1774:0.3161:0.0	.	.	.	.	X	1064;866;1064	.	ENSP00000282493:E1064X	E	+	1	0	PDZD2	32110159	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.099000	0.15210	0.025000	0.15241	-0.217000	0.12591	GAG	PDZD2	-	NULL		0.567	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32074402	1	no_errors	ENST00000282493	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	32074402	G	T	32074402	4	4	185	1	0	0	0	0	0	1	0	0	11725	943	33	3	3256	3	PDZD2	5	32074402	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	16137113	32074402	148840858	464	34739										
ZFR	51663	genome.wustl.edu	37	chr5	32387714	32387714	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taatgtctttgaaggtttctCtgagcacagcaaaacaaggt	9	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:32387714C>G	ENST00000265069.8	-	14	2542	c.2440G>C	c.(2440-2442)Gag>Cag	p.E814Q		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	814	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GAAGGTTTCTCTGAGCACAGC	0.403																																																	0													125	123	124					5																	32387714		2203	4300	6503	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2440G>C	5.37:g.32387714C>G	ENSP00000265069:p.Glu814Gln		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.E814Q	ENST00000265069.8	37	c.2440	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594996	0.28445	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.47177	0.85	5.7	5.7	0.88788	DZF (2);	0.045348	0.85682	D	0.000000	T	0.44767	0.1309	L	0.48642	1.525	0.58432	D	0.999999	P	0.37914	0.611	B	0.35114	0.196	T	0.31336	-0.9947	10	0.33141	T	0.24	.	19.8383	0.96670	0.0:1.0:0.0:0.0	.	814	Q96KR1	ZFR_HUMAN	Q	814;792	ENSP00000265069:E814Q	ENSP00000265069:E814Q	E	-	1	0	ZFR	32423471	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	4.629000	0.61290	2.683000	0.91414	0.650000	0.86243	GAG	ZFR	-	pfam_DZF,smart_DZF		0.403	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	C			32387714	-1	no_errors	ENST00000265069	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32387714	C	G	32387714	3	3	185	1	0	0	0	0	1	0	0	0	17689	922	32	1	812	1	ZFR	5	32387714	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	313312	32387714	148527546	465	34740										
AMACR	23600	genome.wustl.edu	37	chr5	34004690	34004690	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatacttaccatatttgcatCaatgacctgacccttgccag	5	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:34004690C>T	ENST00000335606.6	-	3	629	c.541G>A	c.(541-543)Gat>Aat	p.D181N	AMACR_ENST00000382068.3_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000512079.1_Missense_Mutation_p.D181N|AMACR_ENST00000502637.1_Missense_Mutation_p.D181N|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000382085.3_Missense_Mutation_p.D181N|AMACR_ENST00000426255.2_Missense_Mutation_p.D181N|RP11-1084J3.4_ENST00000382079.3_Intron	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	181					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATATTTGCATCAATGACCTGA	0.438																																																	0													158	141	147					5																	34004690		2203	4300	6503	SO:0001583	missense	23600			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.541G>A	5.37:g.34004690C>T	ENSP00000334424:p.Asp181Asn		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.D181N	ENST00000335606.6	37	c.541	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.525968	0.96431	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.60797	0.16;0.16;0.16	5.92	5.92	0.95590	CoA-transferase family III domain (2);	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	H	0.97682	4.055	0.80722	D	1	D;D;D;D	0.69078	0.997;0.979;0.983;0.983	D;P;D;P	0.70016	0.967;0.84;0.943;0.831	D	0.89331	0.3647	10	0.62326	D	0.03	-32.4015	20.3206	0.98668	0.0:1.0:0.0:0.0	.	181;181;181;181	B3KMU8;F8W9N1;D6RB81;Q9UHK6	.;.;.;AMACR_HUMAN	N	181	ENSP00000334424:D181N;ENSP00000371517:D181N;ENSP00000424351:D181N	ENSP00000334424:D181N	D	-	1	0	AMACR	34040447	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.201000	0.77847	2.809000	0.96659	0.655000	0.94253	GAT	AMACR	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.438	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	C	NM_014324		34004690	-1	no_errors	ENST00000335606	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34004690	C	T	34004690	3	4	185	1	0	0	0	0	1	0	0	0	562	826	29	1	949	1	AMACR	5	34004690	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1616976	34004690	146910570	466	34741										
AMACR	23600	genome.wustl.edu	37	chr5	34004818	34004818	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catacggattctcaccacttCtgccaatttttgagagaaca	6	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:34004818C>T	ENST00000335606.6	-	3	501	c.413G>A	c.(412-414)aGa>aAa	p.R138K	AMACR_ENST00000382068.3_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000512079.1_Missense_Mutation_p.R138K|AMACR_ENST00000502637.1_Missense_Mutation_p.R138K|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000382085.3_Missense_Mutation_p.R138K|AMACR_ENST00000426255.2_Missense_Mutation_p.R138K|RP11-1084J3.4_ENST00000382079.3_Intron	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	138					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CTCACCACTTCTGCCAATTTT	0.393																																																	0													79	75	77					5																	34004818		2203	4300	6503	SO:0001583	missense	23600			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.413G>A	5.37:g.34004818C>T	ENSP00000334424:p.Arg138Lys		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.R138K	ENST00000335606.6	37	c.413	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158902	0.38119	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.53640	0.61;0.61;0.61	5.92	3.13	0.36017	CoA-transferase family III domain (2);	0.538148	0.23680	N	0.045640	T	0.48390	0.1497	M	0.79011	2.435	0.80722	D	1	B;B;B;B	0.18013	0.02;0.02;0.025;0.025	B;B;B;B	0.29077	0.05;0.02;0.098;0.073	T	0.45308	-0.9270	10	0.66056	D	0.02	-1.2283	6.4696	0.22001	0.2573:0.6071:0.0:0.1356	.	138;138;138;138	B3KMU8;F8W9N1;D6RB81;Q9UHK6	.;.;.;AMACR_HUMAN	K	138	ENSP00000334424:R138K;ENSP00000371517:R138K;ENSP00000424351:R138K	ENSP00000334424:R138K	R	-	2	0	AMACR	34040575	0.740000	0.28207	0.418000	0.26571	0.363000	0.29612	1.108000	0.31123	0.377000	0.24735	0.655000	0.94253	AGA	AMACR	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.393	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	C	NM_014324		34004818	-1	no_errors	ENST00000335606	ensembl	human	known	70_37	missense	SNP	0.978	T	T	34004818	C	T	34004818	3	4	185	1	0	0	0	0	1	0	0	0	562	913	32	1	1077	1	AMACR	5	34004818	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	128	34004818	146910442	467	34742										
C5orf42	65250	genome.wustl.edu	37	chr5	37183126	37183126	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcattgcactgaatagctttGaaaatacatcttctagtttt	5	7	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:37183126G>C	ENST00000508244.1	-	25	5250	c.5157C>G	c.(5155-5157)ttC>ttG	p.F1719L	C5orf42_ENST00000274258.7_Missense_Mutation_p.F600L|C5orf42_ENST00000425232.2_Missense_Mutation_p.F1719L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1719						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAATAGCTTTGAAAATACATC	0.358																																																	0													87	87	87					5																	37183126		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5157C>G	5.37:g.37183126G>C	ENSP00000421690:p.Phe1719Leu		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.F1719L	ENST00000508244.1	37	c.5157	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806669	0.70682	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.19	5.19	0.71726	.	0.000000	0.45606	D	0.000347	T	0.22551	0.0544	N	0.19112	0.55	0.38252	D	0.941623	P;D	0.56287	0.952;0.975	P;P	0.53146	0.492;0.719	T	0.07139	-1.0788	10	0.66056	D	0.02	.	18.7341	0.91748	0.0:0.0:1.0:0.0	.	1719;600	E9PH94;Q9H799	.;CE042_HUMAN	L	1719;1719;600;767;600	ENSP00000421690:F1719L;ENSP00000389014:F1719L;ENSP00000274258:F600L;ENSP00000424223:F767L	ENSP00000274258:F600L	F	-	3	2	C5orf42	37218883	1.000000	0.71417	0.940000	0.37924	0.566000	0.35808	2.471000	0.45127	2.427000	0.82271	0.655000	0.94253	TTC	C5orf42	-	NULL		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	G	NM_023073		37183126	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37183126	G	C	37183126	3	2	185	1	0	0	0	0	1	0	0	0	2306	1281	45	1	4544	1	C5orf42	5	37183126	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3178308	37183126	143732134	468	34743										
C5orf42	65250	genome.wustl.edu	37	chr5	37196095	37196095	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggaagggatcctttcattcGaatctaaaagtaaagaataa	8	5	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:37196095G>A	ENST00000508244.1	-	20	3769	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	C5orf42_ENST00000274258.7_Nonsense_Mutation_p.R107*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.R1226*			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1226						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTTTCATTCGAATCTAAAAG	0.358																																																	0													68	66	67					5																	37196095		2203	4300	6503	SO:0001587	stop_gained	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3676C>T	5.37:g.37196095G>A	ENSP00000421690:p.Arg1226*		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Nonsense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.R1226*	ENST00000508244.1	37	c.3676	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	58	31.088537	0.99978	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.21	4.31	0.51392	.	0.000000	0.35936	N	0.002890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1679	0.72842	0.0:0.0:0.8578:0.1422	.	.	.	.	X	1226;1226;107;274;107	.	ENSP00000274258:R107X	R	-	1	2	C5orf42	37231852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.489000	0.73641	1.271000	0.44313	0.655000	0.94253	CGA	C5orf42	-	NULL		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	G	NM_023073		37196095	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	37196095	G	A	37196095	4	1	185	1	0	0	0	0	0	1	0	0	2306	1066	37	1	6045	1	C5orf42	5	37196095	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	12969	37196095	143719165	469	34744										
TTC33	23548	genome.wustl.edu	37	chr5	40730373	40730373	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ataattattacctgtgatttCatctcgtatagggtagcatc	7	7	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:40730373C>T	ENST00000337702.4	-	3	446	c.294G>A	c.(292-294)atG>atA	p.M98I	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	98								p.M98I(1)		NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGTGATTTCATCTCGTATA	0.368																																																	1	Substitution - Missense(1)	urinary_tract(1)											147	137	140					5																	40730373		2203	4300	6503	SO:0001583	missense	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"Tetratricopeptide (TTC) repeat domain containing"	29959	protein-coding gene	gene with protein product	"osmosis responsive factor"					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.294G>A	5.37:g.40730373C>T	ENSP00000338533:p.Met98Ile		B2R6G0|O95105	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M98I	ENST00000337702.4	37	c.294	CCDS3931.1	5	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549517	0.65311	.	.	ENSG00000113638	ENST00000337702	T	0.59224	0.28	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.75447	2.3	0.80722	D	1	B	0.18610	0.029	B	0.23018	0.043	T	0.57353	-0.7826	10	0.38643	T	0.18	-18.1129	18.3196	0.90232	0.0:1.0:0.0:0.0	.	98	Q6PID6	TTC33_HUMAN	I	98	ENSP00000338533:M98I	ENSP00000338533:M98I	M	-	3	0	TTC33	40766130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.484000	0.73621	2.764000	0.94973	0.655000	0.94253	ATG	TTC33	-	pfscan_TPR-contain_dom		0.368	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC33	HGNC	protein_coding	OTTHUMT00000253831.1	C	NM_012382		40730373	-1	no_errors	ENST00000337702	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40730373	C	T	40730373	3	4	185	1	0	0	0	0	1	0	0	0	16733	826	29	1	506	1	TTC33	5	40730373	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3534278	40730373	140184887	470	34745										
CARD6	84674	genome.wustl.edu	37	chr5	40843632	40843632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctaggatctgttgacacccCtgaagatgcagaagccactg	10	11	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:40843632C>T	ENST00000254691.5	+	2	861	c.662C>T	c.(661-663)cCt>cTt	p.P221L	CARD6_ENST00000381677.3_Missense_Mutation_p.P221L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	221	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTTGACACCCCTGAAGATGCA	0.418																																																	0													64	68	67					5																	40843632		2203	4300	6503	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.662C>T	5.37:g.40843632C>T	ENSP00000254691:p.Pro221Leu		Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.P221L	ENST00000254691.5	37	c.662	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	C	9.357	1.066956	0.20067	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.31510	2.72;1.49	4.93	-0.873	0.10635	.	1.623260	0.03261	N	0.183357	T	0.19604	0.0471	L	0.27053	0.805	0.19300	N	0.999976	B	0.06786	0.001	B	0.04013	0.001	T	0.12344	-1.0551	10	0.20046	T	0.44	2.7814	4.1769	0.10356	0.1579:0.4489:0.0:0.3931	.	221	Q9BX69	CARD6_HUMAN	L	221	ENSP00000254691:P221L;ENSP00000371093:P221L	ENSP00000254691:P221L	P	+	2	0	CARD6	40879389	0.051000	0.20477	0.015000	0.15790	0.009000	0.06853	0.150000	0.16263	-0.154000	0.11118	-0.169000	0.13324	CCT	CARD6	-	NULL		0.418	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	C			40843632	1	no_errors	ENST00000254691	ensembl	human	known	70_37	missense	SNP	0.016	T	T	40843632	C	T	40843632	3	4	185	1	0	0	0	0	1	0	0	0	2655	681	24	4	668	4	CARD6	5	40843632	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	113259	40843632	140071628	471	34746										
ZNF131	7690	genome.wustl.edu	37	chr5	43174963	43174963	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggccgaattcagactgaaGaaggtactgaagtacatgta	12	6	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:43174963G>C	ENST00000399534.1	+	7	1644	c.1600G>C	c.(1600-1602)Gaa>Caa	p.E534Q	ZNF131_ENST00000306938.4_Missense_Mutation_p.E500Q|ZNF131_ENST00000509634.1_Missense_Mutation_p.E500Q|ZNF131_ENST00000509156.1_Missense_Mutation_p.E534Q|ZNF131_ENST00000505606.2_Missense_Mutation_p.E500Q|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	534					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TCAGACTGAAGAAGGTACTGA	0.478																																																	0													65	64	64					5																	43174963		1988	4154	6142	SO:0001583	missense	7690			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1600G>C	5.37:g.43174963G>C	ENSP00000382450:p.Glu534Gln		B4DRL3|Q6PIF0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E534Q	ENST00000399534.1	37	c.1600		5	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030728	0.19512	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.91	4.11	0.48088	.	0.169159	0.52532	D	0.000077	T	0.49830	0.1580	N	0.17082	0.46	0.34990	D	0.754887	B;B	0.13145	0.004;0.007	B;B	0.13407	0.004;0.009	T	0.46735	-0.9170	10	0.05721	T	0.95	-15.7863	5.5292	0.16974	0.0768:0.2543:0.5528:0.1161	.	534;500	P52739;P52739-2	ZN131_HUMAN;.	Q	534;500;534;500;500	ENSP00000426504:E534Q;ENSP00000305804:E500Q;ENSP00000382450:E534Q;ENSP00000423945:E500Q;ENSP00000421246:E500Q	ENSP00000305804:E500Q	E	+	1	0	ZNF131	43210720	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.349000	0.52217	0.819000	0.34492	0.460000	0.39030	GAA	ZNF131	-	NULL		0.478	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	G	NM_003432		43174963	1	no_errors	ENST00000399534	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43174963	G	C	43174963	3	2	185	1	0	0	0	0	1	0	0	0	17751	943	33	1	1524	1	ZNF131	5	43174963	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2331331	43174963	137740297	472	34747										
ITGA1	3672	genome.wustl.edu	37	chr5	52243212	52243212	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaagatgggctaccgggcaGagtgccattatgggtcatcc	13	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:52243212G>A	ENST00000282588.6	+	28	3874	c.3416G>A	c.(3415-3417)aGa>aAa	p.R1139K	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1139					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTACCGGGCAGAGTGCCATTA	0.393																																																	0													197	183	188					5																	52243212		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3416G>A	5.37:g.52243212G>A	ENSP00000282588:p.Arg1139Lys		B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R1139K	ENST00000282588.6	37	c.3416	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395142	0.25205	.	.	ENSG00000213949	ENST00000282588	T	0.45668	0.89	5.7	2.96	0.34315	.	0.214889	0.49305	D	0.000157	T	0.15435	0.0372	N	0.04746	-0.17	0.23366	N	0.997824	B	0.06786	0.001	B	0.06405	0.002	T	0.31110	-0.9955	10	0.02654	T	1	.	5.8842	0.18872	0.2245:0.1427:0.6328:0.0	.	1139	P56199	ITA1_HUMAN	K	1139	ENSP00000282588:R1139K	ENSP00000282588:R1139K	R	+	2	0	ITGA1	52278969	0.010000	0.17322	1.000000	0.80357	0.709000	0.40893	0.533000	0.23082	0.775000	0.33450	-0.188000	0.12872	AGA	ITGA1	-	NULL		0.393	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	G	NM_181501		52243212	1	no_errors	ENST00000282588	ensembl	human	known	70_37	missense	SNP	0.991	A	A	52243212	G	A	52243212	3	1	185	1	0	0	0	0	1	0	0	0	7892	942	33	1	3526	1	ITGA1	5	52243212	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9068249	52243212	128672048	473	34748										
SKIV2L2	23517	genome.wustl.edu	37	chr5	54654485	54654485	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaattgtaattcttatggtaGatgaaaagatgagcccaaca	9	5	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:54654485G>C	ENST00000230640.5	+	15	1872	c.1618G>C	c.(1618-1620)Gat>Cat	p.D540H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D439H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	540	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCTTATGGTAGATGAAAAGAT	0.363																																					Melanoma(2;92 134 23744 29976 33782)												0													103	103	103					5																	54654485		2203	4300	6503	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1618G>C	5.37:g.54654485G>C	ENSP00000230640:p.Asp540His		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D540H	ENST00000230640.5	37	c.1618	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997242	0.93167	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.71817	-0.6;-0.6	5.96	5.96	0.96718	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.98	D	0.86438	0.1765	10	0.87932	D	0	-20.0519	20.422	0.99049	0.0:0.0:1.0:0.0	.	439;540	F5H7E2;P42285	.;SK2L2_HUMAN	H	540;439	ENSP00000230640:D540H;ENSP00000442583:D439H	ENSP00000230640:D540H	D	+	1	0	SKIV2L2	54690242	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.762000	0.98944	2.832000	0.97577	0.655000	0.94253	GAT	SKIV2L2	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C		0.363	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	G			54654485	1	no_errors	ENST00000230640	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54654485	G	C	54654485	3	2	185	1	0	0	0	0	1	0	0	0	14390	942	33	1	1676	1	SKIV2L2	5	54654485	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2411273	54654485	126260775	474	34749										
IL6ST	3572	genome.wustl.edu	37	chr5	55265471	55265471	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatatttaatgaagctatatCtgtaaaggtgacactggatg	9	4	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:55265471C>G	ENST00000381298.2	-	4	589	c.277G>C	c.(277-279)Gat>Cat	p.D93H	IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.D93H|IL6ST_ENST00000381294.3_Missense_Mutation_p.D93H|IL6ST_ENST00000536319.1_Missense_Mutation_p.D93H|IL6ST_ENST00000336909.5_Missense_Mutation_p.D93H|IL6ST_ENST00000381287.4_Missense_Mutation_p.D93H|IL6ST_ENST00000522633.2_Missense_Mutation_p.D93H|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	93	Ig-like C2-type.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAGCTATATCTGTAAAGGTG	0.333			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													109	99	102					5																	55265471		2203	4299	6502	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.277G>C	5.37:g.55265471C>G	ENSP00000370698:p.Asp93His		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D93H	ENST00000381298.2	37	c.277	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404031	0.62288	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.86	-9.62	0.00547	Fibronectin, type III (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	1.064340	0.07146	N	0.848156	T	0.76118	0.3943	L	0.43152	1.355	0.30988	N	0.721713	P;D;P	0.58268	0.798;0.982;0.782	P;P;P	0.55667	0.701;0.674;0.781	T	0.77219	-0.2668	10	0.39692	T	0.17	.	14.3793	0.66900	0.0:0.6608:0.102:0.2372	.	93;93;93	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	H	93	ENSP00000370698:D93H;ENSP00000338799:D93H;ENSP00000370694:D93H;ENSP00000370687:D93H;ENSP00000444456:D93H;ENSP00000435399:D93H	ENSP00000338799:D93H	D	-	1	0	IL6ST	55301228	0.003000	0.15002	0.053000	0.19242	0.931000	0.56810	-0.640000	0.05440	-1.407000	0.02043	-0.225000	0.12378	GAT	IL6ST	-	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3		0.333	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	C	NM_002184		55265471	-1	no_errors	ENST00000336909	ensembl	human	known	70_37	missense	SNP	0.040	G	G	55265471	C	G	55265471	3	3	185	1	0	0	0	0	1	0	0	0	7723	913	32	1	2535	1	IL6ST	5	55265471	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	610986	55265471	125649789	475	34750										
MAP3K1	4214	genome.wustl.edu	37	chr5	56177814	56177814	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agttcagaggacatttctgaGagactggccagcatttcagt	11	8	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:56177814G>A	ENST00000399503.3	+	14	2787	c.2787G>A	c.(2785-2787)gaG>gaA	p.E929E		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	929					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACATTTCTGAGAGACTGGCCA	0.443																																																	0													71	67	69					5																	56177814		1894	4127	6021	SO:0001819	synonymous_variant	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2787G>A	5.37:g.56177814G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.E929	ENST00000399503.3	37	c.2787	CCDS43318.1	5																																																																																			MAP3K1	-	NULL		0.443	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	G	XM_042066		56177814	1	no_errors	ENST00000399503	ensembl	human	novel	70_37	silent	SNP	0.992	A	A	56177814	G	A	56177814	2	1	185	1	0	0	0	0	0	0	0	1	9266	933	33	1		1	MAP3K1	5	56177814	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	912343	56177814	124737446	476	34751										
ACTBL2	345651	genome.wustl.edu	37	chr5	56778051	56778051	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcatagatgggcacgatgtGagtgaccccatccccagaat	10	11	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:56778051G>C	ENST00000423391.1	-	1	585	c.484C>G	c.(484-486)Cac>Gac	p.H162D	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	162				H -> L (in Ref. 4; AAX82259). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.H162N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGCACGATGTGAGTGACCCCA	0.552																																																	1	Substitution - Missense(1)	ovary(1)											103	88	93					5																	56778051		2203	4300	6503	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.484C>G	5.37:g.56778051G>C	ENSP00000416706:p.His162Asp		B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.H162D	ENST00000423391.1	37	c.484	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764010	0.49574	.	.	ENSG00000169067	ENST00000423391	T	0.08282	3.11	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000002	T	0.46171	0.1379	H	0.98426	4.23	0.58432	D	0.999991	D	0.53462	0.96	D	0.74348	0.983	T	0.66881	-0.5811	10	0.87932	D	0	.	15.3116	0.74039	0.0:0.0:1.0:0.0	.	162	Q562R1	ACTBL_HUMAN	D	162	ENSP00000416706:H162D	ENSP00000416706:H162D	H	-	1	0	ACTBL2	56813808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.452000	0.82932	0.655000	0.94253	CAC	ACTBL2	-	pfam_Actin-like,smart_Actin-like		0.552	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	G	NM_001017992		56778051	-1	no_errors	ENST00000423391	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56778051	G	C	56778051	3	2	185	1	0	0	0	0	1	0	0	0	194	1290	45	1	650	1	ACTBL2	5	56778051	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	600237	56778051	124137209	477	34752										
KIF2A	3796	genome.wustl.edu	37	chr5	61643892	61643892	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagattgacctggagagcatCttttcacttaaccctgacct	7	12	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:61643892C>G	ENST00000401507.3	+	3	488	c.177C>G	c.(175-177)atC>atG	p.I59M	KIF2A_ENST00000381103.2_Missense_Mutation_p.I39M|KIF2A_ENST00000506857.1_Missense_Mutation_p.I32M|KIF2A_ENST00000407818.3_Missense_Mutation_p.I59M|KIF2A_ENST00000509663.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	59	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGGAGAGCATCTTTTCACTTA	0.368																																																	0													134	131	132					5																	61643892		2203	4300	6503	SO:0001583	missense	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.177C>G	5.37:g.61643892C>G	ENSP00000385622:p.Ile59Met		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I59M	ENST00000401507.3	37	c.177	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015708	0.54468	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000512541;ENST00000506857	T;T;T;T;T;T	0.78246	-1.01;-1.0;1.44;-1.16;0.37;-1.05	5.36	3.47	0.39725	.	0.043581	0.85682	D	0.000000	D	0.83184	0.5199	M	0.80332	2.49	0.50313	D	0.999869	P;D;P;P	0.55800	0.955;0.973;0.756;0.76	P;P;B;P	0.56751	0.643;0.805;0.413;0.482	D	0.83686	0.0174	10	0.87932	D	0	.	6.8968	0.24260	0.3371:0.5748:0.0:0.0882	.	59;59;59;39	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	M	59;39;59;59;32;32	ENSP00000385622:I59M;ENSP00000370493:I39M;ENSP00000423542:I59M;ENSP00000385000:I59M;ENSP00000425411:I32M;ENSP00000423772:I32M	ENSP00000370493:I39M	I	+	3	3	KIF2A	61679649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.346000	0.33964	1.277000	0.44412	0.460000	0.39030	ATC	KIF2A	-	NULL		0.368	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	C	NM_004520		61643892	1	no_errors	ENST00000407818	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61643892	C	G	61643892	3	3	185	1	0	0	0	0	1	0	0	0	8317	903	32	1	187	1	KIF2A	5	61643892	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4865841	61643892	119271368	478	34753										
KIF2A	3796	genome.wustl.edu	37	chr5	61668359	61668359	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttcttatgaatatgacgacTtttctccttcagttaccagg	6	10	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:61668359T>G	ENST00000401507.3	+	17	1957				KIF2A_ENST00000381103.2_Intron|KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.F581V|KIF2A_ENST00000509663.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		ATATGACGACTTTTCTCCTTC	0.373																																																	0													88	81	83					5																	61668359		1846	4103	5949	SO:0001627	intron_variant	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1647-1155T>G	5.37:g.61668359T>G			A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F581V	ENST00000401507.3	37	c.1741	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513133	0.27123	.	.	ENSG00000068796	ENST00000407818	T	0.72942	-0.7	5.09	5.09	0.68999	.	.	.	.	.	T	0.67230	0.2871	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	T	0.67273	-0.5712	9	0.22706	T	0.39	.	15.0278	0.71682	0.0:0.0:0.0:1.0	.	581	O00139-4	.	V	581	ENSP00000385000:F581V	ENSP00000385000:F581V	F	+	1	0	KIF2A	61704116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.306000	0.65756	2.141000	0.66446	0.482000	0.46254	TTT	KIF2A	-	NULL		0.373	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	T	NM_004520		61668359	1	no_errors	ENST00000407818	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61668359	T	G	61668359	1	3	185	0	1	0	0	0	0	0	0	0	8317	1609	56	5		5	KIF2A	5	61668359	Intron	SNP	T	TCGA-Q1-A73O-01A-11D-A32I-09	24467	61668359	119246901	479	34754										
SFRS12IP1	285672	genome.wustl.edu	37	chr5	64023951	64023951	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taccttttccttttttttttCaatttgattttttctttgct	2	7	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:64023951C>G	ENST00000513458.4	-	4	428	c.261G>C	c.(259-261)ttG>ttC	p.L87F		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	87	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ttttttttttcaatttgattt	0.264																																																	0													17	21	19					5																	64023951		2131	4185	6316	SO:0001583	missense	285672			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.261G>C	5.37:g.64023951C>G	ENSP00000427401:p.Leu87Phe		Q32NC8	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.L87F	ENST00000513458.4	37	c.261	CCDS34171.1	5	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062595	0.36373	.	.	ENSG00000153006	ENST00000513458	.	.	.	4.17	2.37	0.29283	.	0.397804	0.24750	N	0.035920	T	0.66742	0.2820	M	0.65498	2.005	0.36421	D	0.864301	D	0.58970	0.984	D	0.70487	0.969	T	0.68538	-0.5382	9	0.35671	T	0.21	-16.0455	5.9853	0.19430	0.0:0.7699:0.0:0.2301	.	87	Q8N9Q2	SR1IP_HUMAN	F	87	.	ENSP00000427401:L87F	L	-	3	2	SREK1IP1	64059707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.990000	0.29642	1.100000	0.41517	0.655000	0.94253	TTG	SREK1IP1	-	NULL		0.264	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREK1IP1	HGNC	protein_coding	OTTHUMT00000368457.4	C	NM_173829		64023951	-1	no_errors	ENST00000513458	ensembl	human	known	70_37	missense	SNP	1.000	G	G	64023951	C	G	64023951	3	3	185	1	0	0	0	0	1	0	0	0	14198	825	29	1	214	1	SFRS12IP1	5	64023951	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2355592	64023951	116891309	480	34755										
SFRS12IP1	285672	genome.wustl.edu	37	chr5	64023998	64023998	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcttcttttcctcttcttCatttattcctgtgggggaga	7	9	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:64023998C>T	ENST00000513458.4	-	4	381	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	72					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						tcctcttcttcatttattCCT	0.264																																																	0													18	21	20					5																	64023998		2161	4246	6407	SO:0001583	missense	285672			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.214G>A	5.37:g.64023998C>T	ENSP00000427401:p.Glu72Lys		Q32NC8	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.E72K	ENST00000513458.4	37	c.214	CCDS34171.1	5	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828633	0.50845	.	.	ENSG00000153006	ENST00000513458	.	.	.	4.07	3.2	0.36748	.	0.282966	0.38720	N	0.001593	T	0.47967	0.1474	L	0.49350	1.555	0.35221	D	0.776052	B	0.18968	0.032	B	0.21917	0.037	T	0.53365	-0.8449	9	0.38643	T	0.18	-11.9644	7.7654	0.28976	0.0:0.8845:0.0:0.1155	.	72	Q8N9Q2	SR1IP_HUMAN	K	72	.	ENSP00000427401:E72K	E	-	1	0	SREK1IP1	64059754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.573000	0.36472	1.061000	0.40601	0.655000	0.94253	GAA	SREK1IP1	-	NULL		0.264	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREK1IP1	HGNC	protein_coding	OTTHUMT00000368457.4	C	NM_173829		64023998	-1	no_errors	ENST00000513458	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64023998	C	T	64023998	3	4	185	1	0	0	0	0	1	0	0	0	14198	835	29	1	261	1	SFRS12IP1	5	64023998	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	47	64023998	116891262	481	34756										
NLN	57486	genome.wustl.edu	37	chr5	65084259	65084259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttacactttatactgtgaagGataaagctacaggagaagta	9	5	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:65084259G>A	ENST00000380985.5	+	8	1451	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	NLN_ENST00000502464.1_Missense_Mutation_p.D321N	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	425						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TACTGTGAAGGATAAAGCTAC	0.433																																																	0													192	191	192					5																	65084259		2203	4300	6503	SO:0001583	missense	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1273G>A	5.37:g.65084259G>A	ENSP00000370372:p.Asp425Asn		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.D425N	ENST00000380985.5	37	c.1273	CCDS3989.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.417555|5.417555	0.96092|0.96092	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299|ENST00000509935	T;T;T|.	0.15718|.	2.4;2.4;2.4|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Metallopeptidase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75265|0.75265	0.3826|0.3826	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	T|T	0.70350|0.70350	-0.4896|-0.4896	10|5	0.66056|.	D|.	0.02|.	-23.7146|-23.7146	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	120;425;425|.	Q96K48;Q9BYT8;Q9BQD0|.	.;NEUL_HUMAN;.|.	N|E	425;321;425;153|21	ENSP00000370372:D425N;ENSP00000423214:D321N;ENSP00000427417:D153N|.	ENSP00000339283:D425N|.	D|G	+|+	1|2	0|0	NLN|NLN	65120015|65120015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	9.476000|9.476000	0.97823|0.97823	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAT|GGA	NLN	-	pfam_Pept_M3A_M3B		0.433	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	G			65084259	1	no_errors	ENST00000380985	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65084259	G	A	65084259	3	1	185	1	0	0	0	0	1	0	0	0	10491	1174	41	1	1303	1	NLN	5	65084259	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1060261	65084259	115831001	482	34757										
MAST4	375449	genome.wustl.edu	37	chr5	66426168	66426168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggatatcctgacttttgcaGaaaacccctttgttgtcagc	9	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:66426168G>A	ENST00000403625.2	+	15	2171	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	MAST4_ENST00000405643.1_Missense_Mutation_p.E447K|MAST4_ENST00000403666.1_Missense_Mutation_p.E437K|MAST4_ENST00000261569.7_Missense_Mutation_p.E432K|MAST4_ENST00000404260.3_Missense_Mutation_p.E629K	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	629	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACTTTTGCAGAAAACCCCTT	0.463																																																	0													121	126	124					5																	66426168		2168	4286	6454	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1876G>A	5.37:g.66426168G>A	ENSP00000385727:p.Glu626Lys		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E629K	ENST00000403625.2	37	c.1885	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.637740	0.96693	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	N	0.02539	-0.55	0.58432	D	0.999991	B;D;D;P	0.89917	0.382;1.0;1.0;0.753	P;D;D;P	0.91635	0.607;0.999;0.999;0.86	T	0.55244	-0.8171	10	0.87932	D	0	-23.0476	18.9218	0.92528	0.0:0.0:1.0:0.0	.	447;629;432;437	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	K	629;626;437;447;447;432;432	ENSP00000385048:E629K;ENSP00000385727:E626K;ENSP00000384313:E437K;ENSP00000384099:E447K;ENSP00000261569:E432K	ENSP00000261569:E432K	E	+	1	0	MAST4	66461924	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.869000	0.99810	2.525000	0.85131	0.650000	0.86243	GAA	MAST4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.463	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			66426168	1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66426168	G	A	66426168	3	1	185	1	0	0	0	0	1	0	0	0	9350	943	33	1	2064	1	MAST4	5	66426168	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1341909	66426168	114489092	483	34758										
PIK3R1	5295	genome.wustl.edu	37	chr5	67589255	67589255	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accggaatgaatctctagctCagtataatcccaaattggat	7	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:67589255C>T	ENST00000521381.1	+	10	1859	c.1243C>T	c.(1243-1245)Cag>Tag	p.Q415*	PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.Q415*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.Q415*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.Q115*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.Q52*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.Q415*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.Q145*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	415	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATCTCTAGCTCAGTATAATCC	0.343			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											49	51	51					5																	67589255		2203	4297	6500	SO:0001587	stop_gained	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1243C>T	5.37:g.67589255C>T	ENSP00000428056:p.Gln415*		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.Q415*	ENST00000521381.1	37	c.1243	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.247138	0.97408	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.1278	19.5751	0.95439	0.0:1.0:0.0:0.0	.	.	.	.	X	415;415;415;415;115;52;145;88;52	.	ENSP00000274335:Q415X	Q	+	1	0	PIK3R1	67625011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.932000	0.99384	0.644000	0.83932	CAG	PIK3R1	-	pfscan_SH2		0.343	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	C	NM_181504		67589255	1	no_errors	ENST00000396611	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	67589255	C	T	67589255	4	4	185	1	0	0	0	0	0	1	0	0	11942	827	29	1	1407	1	PIK3R1	5	67589255	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1163087	67589255	113326005	484	34759										
PIK3R1	5295	genome.wustl.edu	37	chr5	67589631	67589631	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaaagtcgagaatatgataGattatatgaagaatataccc	7	4	0	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:67589631G>C	ENST00000521381.1	+	11	2010	c.1394G>C	c.(1393-1395)aGa>aCa	p.R465T	PIK3R1_ENST00000274335.5_Missense_Mutation_p.R465T|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R465T|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R165T|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R102T|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R465T|PIK3R1_ENST00000336483.5_Missense_Mutation_p.R195T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	465					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y463_L466del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAATATGATAGATTATATGAA	0.289			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	3	Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	large_intestine(1)|lung(1)|endometrium(1)											44	47	46					5																	67589631		2188	4267	6455	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1394G>C	5.37:g.67589631G>C	ENSP00000428056:p.Arg465Thr		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R465T	ENST00000521381.1	37	c.1394	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709878	0.68730	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;T;T;T;T;D	0.81821	-0.41;-0.41;-0.29;-0.41;-1.44;0.9;-1.46;0.49;-1.54	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.61703	1.905	0.80722	D	1	B;B;B;B	0.34061	0.233;0.318;0.318;0.436	B;B;B;B	0.31614	0.062;0.084;0.133;0.102	T	0.75825	-0.3181	10	0.27082	T	0.32	-21.2042	19.0691	0.93125	0.0:0.0:1.0:0.0	.	135;195;165;465	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	T	465;465;465;465;165;102;195;138;102	ENSP00000428056:R465T;ENSP00000429277:R465T;ENSP00000379855:R465T;ENSP00000274335:R465T;ENSP00000323512:R165T;ENSP00000431058:R102T;ENSP00000338554:R195T;ENSP00000429156:R138T;ENSP00000430098:R102T	ENSP00000274335:R465T	R	+	2	0	PIK3R1	67625387	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.208000	0.95075	2.822000	0.97130	0.650000	0.86243	AGA	PIK3R1	-	superfamily_Guanylate-bd_C		0.289	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G	NM_181504		67589631	1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67589631	G	C	67589631	3	2	185	1	0	0	0	0	1	0	0	0	11942	942	33	1	1562	1	PIK3R1	5	67589631	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	376	67589631	113325629	485	34760										
PIK3R1	5295	genome.wustl.edu	37	chr5	67591079	67591079	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcaggcagctgagtatcgaGaaattgacaaacgtatgaac	11	7	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:67591079G>C	ENST00000521381.1	+	13	2288	c.1672G>C	c.(1672-1674)Gaa>Caa	p.E558Q	PIK3R1_ENST00000274335.5_Missense_Mutation_p.E558Q|PIK3R1_ENST00000521657.1_Missense_Mutation_p.E558Q|PIK3R1_ENST00000320694.8_Missense_Mutation_p.E258Q|PIK3R1_ENST00000523872.1_Missense_Mutation_p.E195Q|PIK3R1_ENST00000396611.1_Missense_Mutation_p.E558Q|PIK3R1_ENST00000336483.5_Missense_Mutation_p.E288Q	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	558					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R557_K561>Q(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGAGTATCGAGAAATTGACAA	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	3	Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	large_intestine(1)|lung(1)|endometrium(1)											136	136	136					5																	67591079		2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1672G>C	5.37:g.67591079G>C	ENSP00000428056:p.Glu558Gln		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.E558Q	ENST00000521381.1	37	c.1672	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969093	0.74131	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.56199	1.76	0.80722	D	1	P;P;B;D	0.59357	0.686;0.49;0.322;0.985	B;B;B;P	0.56088	0.131;0.198;0.117;0.791	T	0.23190	-1.0195	10	0.40728	T	0.16	-24.8541	18.9011	0.92443	0.0:0.0:1.0:0.0	.	228;288;258;558	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	Q	558;558;558;558;258;288;195	ENSP00000428056:E558Q;ENSP00000429277:E558Q;ENSP00000379855:E558Q;ENSP00000274335:E558Q;ENSP00000323512:E258Q;ENSP00000338554:E288Q;ENSP00000430098:E195Q	ENSP00000274335:E558Q	E	+	1	0	PIK3R1	67626835	1.000000	0.71417	0.967000	0.41034	0.939000	0.58152	9.601000	0.98297	2.773000	0.95371	0.585000	0.79938	GAA	PIK3R1	-	prints_PI3kinase_P85		0.363	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G	NM_181504		67591079	1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67591079	G	C	67591079	3	2	185	1	0	0	0	0	1	0	0	0	11942	943	33	1	1848	1	PIK3R1	5	67591079	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1448	67591079	113324181	486	34761										
PIK3R1	5295	genome.wustl.edu	37	chr5	67591128	67591128	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accagaccttatccagctgaGaaagacgagagaccaatact	8	11	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:67591128G>T	ENST00000521381.1	+	13	2337	c.1721G>T	c.(1720-1722)aGa>aTa	p.R574I	PIK3R1_ENST00000274335.5_Missense_Mutation_p.R574I|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R574I|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R274I|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R211I|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R574I|PIK3R1_ENST00000336483.5_Missense_Mutation_p.R304I	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	574					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R574_T576del(2)|p.R574T(2)|p.R574I(1)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.L570_D578del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATCCAGCTGAGAAAGACGAGA	0.378			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	9	Substitution - Missense(3)|Deletion - In frame(3)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	large_intestine(2)|endometrium(2)|central_nervous_system(1)|urinary_tract(1)|lung(1)|breast(1)|ovary(1)											145	143	144					5																	67591128		2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1721G>T	5.37:g.67591128G>T	ENSP00000428056:p.Arg574Ile		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R574I	ENST00000521381.1	37	c.1721	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.293276	0.95546	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.84433	2.695	0.80722	D	1	D;P;P;D	0.61697	0.976;0.82;0.615;0.99	P;B;B;P	0.54346	0.682;0.256;0.164;0.749	T	0.67181	-0.5735	10	0.62326	D	0.03	-21.3567	18.2175	0.89890	0.0:0.0:1.0:0.0	.	244;304;274;574	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	I	574;574;574;574;274;304;211	ENSP00000428056:R574I;ENSP00000429277:R574I;ENSP00000379855:R574I;ENSP00000274335:R574I;ENSP00000323512:R274I;ENSP00000338554:R304I;ENSP00000430098:R211I	ENSP00000274335:R574I	R	+	2	0	PIK3R1	67626884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.601000	0.98297	2.601000	0.87937	0.585000	0.79938	AGA	PIK3R1	-	prints_PI3kinase_P85		0.378	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	G	NM_181504		67591128	1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	T	T	67591128	G	T	67591128	3	4	185	1	0	0	0	0	1	0	0	0	11942	942	33	3	1897	3	PIK3R1	5	67591128	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	49	67591128	113324132	487	34762										
CCDC125	202243	genome.wustl.edu	37	chr5	68578623	68578623	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tatagtttggatctatttgaGagtgctggattgaacaaatg	11	3	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:68578623G>C	ENST00000396496.2	-	12	1576	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000383374.2_3'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S490C|CCDC125_ENST00000511257.1_Missense_Mutation_p.S365C			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	490						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ATCTATTTGAGAGTGCTGGAT	0.378																																																	0													97	102	100					5																	68578623		2203	4300	6503	SO:0001583	missense	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1469C>G	5.37:g.68578623G>C	ENSP00000379754:p.Ser490Cys		Q86Z19	Missense_Mutation	SNP	NULL	p.S490C	ENST00000396496.2	37	c.1469	CCDS4000.1	5	.	.	.	.	.	.	.	.	.	.	G	7.192	0.591744	0.13812	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257	T;T	0.45668	0.89;0.89	4.93	1.55	0.23275	.	1.046130	0.07517	N	0.909886	T	0.23171	0.0560	N	0.08118	0	0.09310	N	1	P	0.45827	0.867	B	0.41202	0.35	T	0.11817	-1.0572	10	0.35671	T	0.21	0.0018	6.7481	0.23472	0.1369:0.0:0.6761:0.1869	.	490	Q86Z20	CC125_HUMAN	C	490;490;365	ENSP00000379754:S490C;ENSP00000379756:S490C	ENSP00000379754:S490C	S	-	2	0	CCDC125	68614379	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.070000	0.11523	0.531000	0.28639	0.650000	0.86243	TCT	CCDC125	-	NULL		0.378	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	G	NM_176816		68578623	-1	no_errors	ENST00000396496	ensembl	human	known	70_37	missense	SNP	0.000	C	C	68578623	G	C	68578623	3	2	185	1	0	0	0	0	1	0	0	0	2766	942	33	1	70	1	CCDC125	5	68578623	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	987495	68578623	112336637	488	34763										
CCDC125	202243	genome.wustl.edu	37	chr5	68581257	68581257	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggagcatacccaacagtctCtgcccgaaggtcttcttact	9	13	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:68581257C>G	ENST00000396496.2	-	11	1244	c.1137G>C	c.(1135-1137)caG>caC	p.Q379H	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000383374.2_Missense_Mutation_p.R284T|CCDC125_ENST00000396499.1_Missense_Mutation_p.Q379H|CCDC125_ENST00000511257.1_Missense_Mutation_p.Q254H			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	379						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CCAACAGTCTCTGCCCGAAGG	0.428																																																	0													140	132	134					5																	68581257		2203	4300	6503	SO:0001583	missense	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1137G>C	5.37:g.68581257C>G	ENSP00000379754:p.Gln379His		Q86Z19	Missense_Mutation	SNP	NULL	p.Q379H	ENST00000396496.2	37	c.1137	CCDS4000.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.15|15.15	2.748960|2.748960	0.49257|0.49257	.|.	.|.	ENSG00000183323|ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257|ENST00000383374	T;T;T|T	0.52295|0.43294	0.67;0.67;0.67|0.95	5.88|5.88	2.12|2.12	0.27331|0.27331	.|.	0.123329|.	0.53938|.	D|.	0.000046|.	T|T	0.49167|0.49167	0.1541|0.1541	M|M	0.75447|0.75447	2.3|2.3	0.33946|0.33946	D|D	0.643872|0.643872	D|.	0.76494|.	0.999|.	D|.	0.65874|.	0.939|.	T|T	0.55872|0.55872	-0.8072|-0.8072	10|7	0.72032|0.30078	D|T	0.01|0.28	-11.7594|-11.7594	8.4112|8.4112	0.32644|0.32644	0.0:0.5237:0.0:0.4763|0.0:0.5237:0.0:0.4763	.|.	379|.	Q86Z20|.	CC125_HUMAN|.	H|T	379;379;254|284	ENSP00000379754:Q379H;ENSP00000379756:Q379H;ENSP00000426795:Q254H|ENSP00000372865:R284T	ENSP00000379754:Q379H|ENSP00000372865:R284T	Q|R	-|-	3|2	2|0	CCDC125|CCDC125	68617013|68617013	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.448000|0.448000	0.32197|0.32197	0.527000|0.527000	0.22987|0.22987	0.103000|0.103000	0.17682|0.17682	0.555000|0.555000	0.69702|0.69702	CAG|AGA	CCDC125	-	NULL		0.428	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	C	NM_176816		68581257	-1	no_errors	ENST00000396496	ensembl	human	known	70_37	missense	SNP	0.995	G	G	68581257	C	G	68581257	3	3	185	1	0	0	0	0	1	0	0	0	2766	912	32	1	406	1	CCDC125	5	68581257	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2634	68581257	112334003	489	34764										
BTF3	689	genome.wustl.edu	37	chr5	72801062	72801062	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttccaagaatgaggcaaactGaattgagtcaacttctgaag	9	7	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:72801062G>A	ENST00000335895.8	+	6	639	c.488G>A	c.(487-489)tGa>tAa	p.*163*	BTF3_ENST00000380591.3_Silent_p.*207*|BTF3_ENST00000514505.2_3'UTR	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	0	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		GAGGCAAACTGAATTGAGTCA	0.313																																																	0													88	89	89					5																	72801062		2203	4299	6502	SO:0001819	synonymous_variant	689			M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"nascent-polypeptide-associated complex beta polypeptide"	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.488G>A	5.37:g.72801062G>A			B4DWI7|E9PCP5	Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.*207	ENST00000335895.8	37	c.620	CCDS4019.1	5																																																																																			BTF3	-	NULL		0.313	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTF3	HGNC	protein_coding	OTTHUMT00000219815.2	G	NM_001207		72801062	1	no_errors	ENST00000380591	ensembl	human	known	70_37	silent	SNP	1.000	A	A	72801062	G	A	72801062	2	1	185	1	0	0	0	0	0	0	0	1	1554	1285	45	1		1	BTF3	5	72801062	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4219805	72801062	108114198	490	34765										
RGNEF	64283	genome.wustl.edu	37	chr5	73142140	73142140	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagtgaaggggaagggcattCtgagccatcccacatctgtt	12	10	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:73142140C>G	ENST00000426542.2	+	11	1495	c.1475C>G	c.(1474-1476)tCt>tGt	p.S492C	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S492C|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S492C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S492C|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S492C|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S179C|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S492C			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	492					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GAAGGGCATTCTGAGCCATCC	0.493																																																	0													110	106	108					5																	73142140		1969	4168	6137	SO:0001583	missense	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1475C>G	5.37:g.73142140C>G	ENSP00000412175:p.Ser492Cys		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S492C	ENST00000426542.2	37	c.1475	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095833	0.36952	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.12672	2.88;2.86;2.87;2.66;2.86;2.87;2.72	5.69	4.82	0.62117	.	.	.	.	.	T	0.28167	0.0695	M	0.62723	1.935	0.09310	N	1	D;D;D;D;D	0.61080	0.964;0.972;0.972;0.989;0.971	B;P;P;P;P	0.56474	0.436;0.518;0.518;0.799;0.711	T	0.07424	-1.0773	9	0.59425	D	0.04	.	11.6282	0.51158	0.0:0.9164:0.0:0.0836	.	179;492;492;492;492	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	C	492;492;492;492;492;492;179	ENSP00000296794:S492C;ENSP00000441913:S492C;ENSP00000441436:S492C;ENSP00000287898:S492C;ENSP00000411459:S492C;ENSP00000412175:S492C;ENSP00000296799:S179C	ENSP00000287898:S492C	S	+	2	0	RP11-428C6.1	73177896	0.182000	0.23173	0.005000	0.12908	0.207000	0.24258	3.031000	0.49728	1.403000	0.46800	0.484000	0.47621	TCT	ARHGEF28	-	NULL		0.493	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	C			73142140	1	no_errors	ENST00000545377	ensembl	human	known	70_37	missense	SNP	0.197	G	G	73142140	C	G	73142140	3	3	185	1	0	0	0	0	1	0	0	0	13313	913	32	1	1517	1	RGNEF	5	73142140	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	341078	73142140	107773120	491	34766										
POLK	51426	genome.wustl.edu	37	chr5	74877066	74877066	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggaagttaataaactgagtGagcatgaacgatccatctct	9	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:74877066G>T	ENST00000241436.4	+	7	899	c.727G>T	c.(727-729)Gag>Tag	p.E243*	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Nonsense_Mutation_p.E243*|POLK_ENST00000380481.3_Nonsense_Mutation_p.E153*|POLK_ENST00000515295.1_Nonsense_Mutation_p.E243*|POLK_ENST00000504026.1_Nonsense_Mutation_p.E243*|POLK_ENST00000508526.1_Nonsense_Mutation_p.E243*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	243	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TAAACTGAGTGAGCATGAACG	0.368								DNA polymerases (catalytic subunits)																																									0													76	76	76					5																	74877066		2203	4300	6503	SO:0001587	stop_gained	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.727G>T	5.37:g.74877066G>T	ENSP00000241436:p.Glu243*		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Nonsense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.E243*	ENST00000241436.4	37	c.727	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342283	0.61073	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	.	.	.	5.39	5.39	0.77823	.	0.584577	0.18567	N	0.137451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.1553	14.43	0.67243	0.0734:0.0:0.9266:0.0	.	.	.	.	X	243;243;243;243;243;153	.	ENSP00000241436:E243X	E	+	1	0	POLK	74912822	0.996000	0.38824	0.092000	0.20876	0.224000	0.24922	2.826000	0.48104	2.517000	0.84864	0.491000	0.48974	GAG	POLK	-	pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N		0.368	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	G	NM_016218		74877066	1	no_errors	ENST00000241436	ensembl	human	known	70_37	nonsense	SNP	0.291	T	T	74877066	G	T	74877066	4	4	185	1	0	0	0	0	0	1	0	0	12228	1291	45	3	749	3	POLK	5	74877066	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1734926	74877066	106038194	492	34767										
CMYA5	202333	genome.wustl.edu	37	chr5	79027767	79027767	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtatctgagcagttcagttCatcacagaagcaaaaagctg	9	8	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:79027767C>T	ENST00000446378.2	+	2	3210	c.3179C>T	c.(3178-3180)tCa>tTa	p.S1060L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1060					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S1060L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGTTCAGTTCATCACAGAAG	0.428																																																	2	Substitution - Missense(2)	urinary_tract(2)											45	42	43					5																	79027767		1898	4130	6028	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3179C>T	5.37:g.79027767C>T	ENSP00000394770:p.Ser1060Leu		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S1060L	ENST00000446378.2	37	c.3179	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	12.03	1.817048	0.32145	.	.	ENSG00000164309	ENST00000446378	T	0.39997	1.05	5.28	3.37	0.38596	.	0.345430	0.21306	N	0.076731	T	0.36991	0.0987	M	0.65975	2.015	0.09310	N	1	P	0.34864	0.473	B	0.31390	0.129	T	0.29671	-1.0004	10	0.44086	T	0.13	.	8.3362	0.32217	0.0:0.7359:0.0:0.2641	.	1060	Q8N3K9	CMYA5_HUMAN	L	1060	ENSP00000394770:S1060L	ENSP00000394770:S1060L	S	+	2	0	CMYA5	79063523	0.001000	0.12720	0.142000	0.22268	0.955000	0.61496	0.101000	0.15251	1.364000	0.46038	0.655000	0.94253	TCA	CMYA5	-	NULL		0.428	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79027767	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.042	T	T	79027767	C	T	79027767	3	4	185	1	0	0	0	0	1	0	0	0	3595	838	29	1	3185	1	CMYA5	5	79027767	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4150701	79027767	101887493	493	34768										
CKMT2	1160	genome.wustl.edu	37	chr5	80559431	80559431	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catagatagaattggtcgatCagaggtaacgtctctctcac	9	9	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:80559431C>T	ENST00000424301.2	+	10	1374	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.S379L|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.S379L	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	379	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ATTGGTCGATCAGAGGTAACG	0.453																																																	0													113	105	108					5																	80559431		2203	4300	6503	SO:0001583	missense	1160				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1136C>T	5.37:g.80559431C>T	ENSP00000404203:p.Ser379Leu		Q6ICS8|Q8N1E1	Missense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.S379L	ENST00000424301.2	37	c.1136	CCDS4053.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.396439	0.96009	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.15017	2.46;2.46;2.46	5.76	5.76	0.90799	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76898	-0.2789	10	0.87932	D	0	-14.5	19.9625	0.97256	0.0:1.0:0.0:0.0	.	379	P17540	KCRS_HUMAN	L	379	ENSP00000254035:S379L;ENSP00000410289:S379L;ENSP00000404203:S379L	ENSP00000254035:S379L	S	+	2	0	CKMT2	80595187	1.000000	0.71417	0.419000	0.26584	0.949000	0.60115	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCA	CKMT2	-	pfam_ATP-guanido_PTrfase_cat		0.453	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CKMT2	HGNC	protein_coding	OTTHUMT00000369600.1	C	NM_001825		80559431	1	no_errors	ENST00000254035	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80559431	C	T	80559431	3	4	185	1	0	0	0	0	1	0	0	0	3456	838	29	1	1166	1	CKMT2	5	80559431	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1531664	80559431	100355829	494	34769										
RASA1	5921	genome.wustl.edu	37	chr5	86682699	86682699	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcaacaaacatcgtatgatCatgtttttagatgaacttgg	8	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:86682699C>T	ENST00000274376.6	+	23	3468	c.2904C>T	c.(2902-2904)atC>atT	p.I968I	RASA1_ENST00000506290.1_Silent_p.I802I|RASA1_ENST00000456692.2_Silent_p.I791I|RASA1_ENST00000512763.1_Silent_p.I801I	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	968					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATCGTATGATCATGTTTTTAG	0.343																																																	0													160	158	158					5																	86682699		2203	4299	6502	SO:0001819	synonymous_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2904C>T	5.37:g.86682699C>T			B2R6W3|Q9UDI1	Silent	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.I968	ENST00000274376.6	37	c.2904	CCDS34200.1	5																																																																																			RASA1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.343	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	C	NM_002890		86682699	1	no_errors	ENST00000274376	ensembl	human	known	70_37	silent	SNP	1.000	T	T	86682699	C	T	86682699	2	4	185	1	0	0	0	0	0	0	0	1	13090	816	29	1		1	RASA1	5	86682699	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6123268	86682699	94232561	495	34770										
GPR98	84059	genome.wustl.edu	37	chr5	89985822	89985822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatgaatgaaacaacaggagGagccagactaggggctttaa	13	6	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:89985822G>A	ENST00000405460.2	+	30	6731	c.6635G>A	c.(6634-6636)gGa>gAa	p.G2212E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2212					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAACAGGAGGAGCCAGACTA	0.403																																																	0													55	53	53					5																	89985822		1842	4083	5925	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6635G>A	5.37:g.89985822G>A	ENSP00000384582:p.Gly2212Glu		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G2212E	ENST00000405460.2	37	c.6635	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728835	0.89390	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.34275	1.37	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66300	-0.5958	10	0.56958	D	0.05	.	19.1187	0.93353	0.0:0.0:1.0:0.0	.	2212	Q8WXG9	GPR98_HUMAN	E	2212	ENSP00000384582:G2212E	ENSP00000296619:G2212E	G	+	2	0	GPR98	90021578	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.538000	0.98072	2.501000	0.84356	0.650000	0.86243	GGA	GPR98	-	NULL		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89985822	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89985822	G	A	89985822	3	1	185	1	0	0	0	0	1	0	0	0	6741	1174	41	1	6753	1	GPR98	5	89985822	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3303123	89985822	90929438	496	34771										
GPR98	84059	genome.wustl.edu	37	chr5	90101239	90101239	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcctgggttagaaattcctGaattcattgttgttggcaac	9	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:90101239G>A	ENST00000405460.2	+	72	14896	c.14800G>A	c.(14800-14802)Gaa>Aaa	p.E4934K	GPR98_ENST00000425867.2_Missense_Mutation_p.E595K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4934					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAATTCCTGAATTCATTGT	0.458																																																	0													106	99	101					5																	90101239		1861	4101	5962	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14800G>A	5.37:g.90101239G>A	ENSP00000384582:p.Glu4934Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E4934K	ENST00000405460.2	37	c.14800	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308196	0.40895	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.29397	1.57;1.65	5.8	4.93	0.64822	.	0.439108	0.28214	N	0.016177	T	0.33702	0.0872	L	0.56769	1.78	0.31489	N	0.666179	P;P;P	0.52842	0.908;0.956;0.944	B;B;P	0.44561	0.265;0.366;0.453	T	0.45614	-0.9249	9	.	.	.	.	12.7735	0.57434	0.0766:0.0:0.9234:0.0	.	595;4934;595	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	K	4934;4934;595	ENSP00000384582:E4934K;ENSP00000392618:E595K	.	E	+	1	0	GPR98	90136995	1.000000	0.71417	0.024000	0.17045	0.706000	0.40770	3.880000	0.56145	1.439000	0.47511	0.561000	0.74099	GAA	GPR98	-	NULL		0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90101239	1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.623	A	A	90101239	G	A	90101239	3	1	185	1	0	0	0	0	1	0	0	0	6741	1291	45	1	15086	1	GPR98	5	90101239	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	115417	90101239	90814021	497	34772										
GLRX	2745	genome.wustl.edu	37	chr5	95158313	95158313	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacgggcaggtgggcttgatGaacacaaccaccttcccagg	12	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:95158313G>A	ENST00000379979.4	-	1	105	c.54C>T	c.(52-54)ttC>ttT	p.F18F	GLRX_ENST00000237858.6_Silent_p.F18F|GLRX_ENST00000505427.1_Silent_p.F18F|GLRX_ENST00000512469.2_Silent_p.F18F|GLRX_ENST00000508780.1_Silent_p.F18F|GLRX_ENST00000507605.1_5'Flank	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	18	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of membrane potential (GO:0045838)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein deglutathionylation (GO:0080058)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|glutathione oxidoreductase activity (GO:0097573)|protein N-terminus binding (GO:0047485)			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TGGGCTTGATGAACACAACCA	0.537																																																	0													88	79	82					5																	95158313		2203	4300	6503	SO:0001819	synonymous_variant	2745				CCDS4078.1	5q14	2008-02-05			ENSG00000173221	ENSG00000173221			4330	protein-coding gene	gene with protein product		600443				8838810	Standard	NM_002064		Approved	GRX, GRX1	uc021ybo.1	P35754	OTTHUMG00000121167	ENST00000379979.4:c.54C>T	5.37:g.95158313G>A			B2R4L2|Q3KQS1|Q6ICT1	Silent	SNP	pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	p.F18	ENST00000379979.4	37	c.54	CCDS4078.1	5																																																																																			GLRX	-	pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir		0.537	GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GLRX	HGNC	protein_coding	OTTHUMT00000370267.1	G	NM_002064		95158313	-1	no_errors	ENST00000237858	ensembl	human	known	70_37	silent	SNP	1.000	A	A	95158313	G	A	95158313	2	1	185	1	0	0	0	0	0	0	0	1	6478	1281	45	1		1	GLRX	5	95158313	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5057074	95158313	85756947	498	34773										
ERAP1	51752	genome.wustl.edu	37	chr5	96139368	96139368	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatgatggtgctggtgggctGactggctgtgatttctactt	15	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:96139368G>A	ENST00000443439.2	-	2	328	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	ERAP1_ENST00000296754.3_Nonsense_Mutation_p.Q88*|CTD-2260A17.3_ENST00000606346.1_RNA|CTD-2260A17.3_ENST00000606656.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	88					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CTGGTGGGCTGACTGGCTGTG	0.527																																																	0													215	208	211					5																	96139368		2203	4300	6503	SO:0001587	stop_gained	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.262C>T	5.37:g.96139368G>A	ENSP00000406304:p.Gln88*		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Q88*	ENST00000443439.2	37	c.262	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941583	0.53079	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384;ENST00000507154	.	.	.	5.33	2.29	0.28610	.	0.468910	0.23830	N	0.044156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	10.3575	0.43974	0.0:0.1243:0.5915:0.2843	.	.	.	.	X	88	.	ENSP00000296754:Q88X	Q	-	1	0	ERAP1	96165124	0.641000	0.27251	0.819000	0.32651	0.534000	0.34807	0.919000	0.28692	0.545000	0.28902	0.561000	0.74099	CAG	ERAP1	-	pfam_Peptidase_M1_N		0.527	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	G	NM_016442		96139368	-1	no_errors	ENST00000296754	ensembl	human	known	70_37	nonsense	SNP	0.347	A	A	96139368	G	A	96139368	4	1	185	1	0	0	0	0	0	1	0	0	5215	1299	45	1	2668	1	ERAP1	5	96139368	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	981055	96139368	84775892	499	34774										
PAM	5066	genome.wustl.edu	37	chr5	102309832	102309832	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttccacaggtgatttctattCactactttccaagctgctag	6	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:102309832C>T	ENST00000438793.3	+	14	1645	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	PAM_ENST00000348126.2_Intron|PAM_ENST00000274392.9_Missense_Mutation_p.S295L|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.S392L|PAM_ENST00000346918.2_Missense_Mutation_p.S392L|PAM_ENST00000455264.2_Missense_Mutation_p.S392L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	392	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GATTTCTATTCACTACTTTCC	0.383																																																	0													54	53	53					5																	102309832		2203	4299	6502	SO:0001583	missense	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"peptidyl-alpha-hydroxyglycine alpha-amidating lyase", "peptidylglycine alpha-hydroxylating monooxygenase"	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1175C>T	5.37:g.102309832C>T	ENSP00000396493:p.Ser392Leu		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase	p.S392L	ENST00000438793.3	37	c.1175	CCDS54885.1	5	.	.	.	.	.	.	.	.	.	.	C	25.1	4.597854	0.87055	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000304400;ENST00000274392;ENST00000455264;ENST00000432578	T;T;T;T;T	0.64438	0.8;0.68;0.81;-0.1;0.7	5.63	5.63	0.86233	.	0.063541	0.64402	D	0.000004	T	0.77698	0.4169	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.984;1.0	D;D;D;P;D	0.79108	0.992;0.982;0.992;0.867;0.992	T	0.76777	-0.2834	10	0.54805	T	0.06	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	295;392;392;392;392	F8WE90;P19021;P19021-4;P19021-3;P19021-5	.;AMD_HUMAN;.;.;.	L	392;392;392;295;392;35	ENSP00000396493:S392L;ENSP00000282992:S392L;ENSP00000306100:S392L;ENSP00000274392:S295L;ENSP00000403461:S392L	ENSP00000274392:S295L	S	+	2	0	PAM	102337731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.601000	0.74136	2.814000	0.96858	0.655000	0.94253	TCA	PAM	-	NULL		0.383	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	C	NM_000919		102309832	1	no_errors	ENST00000304400	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102309832	C	T	102309832	3	4	185	1	0	0	0	0	1	0	0	0	11436	838	29	1	1229	1	PAM	5	102309832	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6170464	102309832	78605428	500	34775										
PPIP5K2	23262	genome.wustl.edu	37	chr5	102515860	102515860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacacaggaagtctccacttCcaagatctaggaagacggct	9	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:102515860C>T	ENST00000358359.3	+	24	3402	c.2893C>T	c.(2893-2895)Cca>Tca	p.P965S	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.P965S|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P965S	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	965					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTCTCCACTTCCAAGATCTAG	0.323																																																	0													87	84	85					5																	102515860		2203	4300	6503	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2893C>T	5.37:g.102515860C>T	ENSP00000351126:p.Pro965Ser		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.P965S	ENST00000358359.3	37	c.2893		5	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954524	0.34471	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.21361	2.63;2.63;2.63;2.01	5.98	4.12	0.48240	.	0.152119	0.46145	D	0.000315	T	0.15696	0.0378	L	0.48642	1.525	0.40925	D	0.984341	B;B;B	0.25563	0.08;0.026;0.129	B;B;B	0.23275	0.045;0.025;0.045	T	0.03043	-1.1079	10	0.08599	T	0.76	.	10.555	0.45112	0.1338:0.7957:0.0:0.0705	.	980;965;965	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	S	965;965;980;965;239	ENSP00000313070:P965S;ENSP00000351126:P965S;ENSP00000416016:P965S;ENSP00000424948:P239S	ENSP00000313070:P965S	P	+	1	0	PPIP5K2	102543759	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.840000	0.48215	2.838000	0.97847	0.591000	0.81541	CCA	PPIP5K2	-	NULL		0.323	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	C	NM_015216		102515860	1	no_errors	ENST00000358359	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102515860	C	T	102515860	3	4	185	1	0	0	0	0	1	0	0	0	12360	855	30	1	2983	1	PPIP5K2	5	102515860	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	206028	102515860	78399400	501	34776										
FER	2241	genome.wustl.edu	37	chr5	108521904	108521904	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgttgttcctcttccagggaGatacagttcagagagtgacg	12	8	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:108521904G>C	ENST00000281092.4	+	19	2591	c.2207G>C	c.(2206-2208)aGa>aCa	p.R736T	FER_ENST00000438717.2_Missense_Mutation_p.R561T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	736	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTTCCAGGGAGATACAGTTCA	0.488																																					Colon(146;1051 1799 9836 27344 47401)												0													329	310	316					5																	108521904		2202	4300	6502	SO:0001583	missense	2241			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2207G>C	5.37:g.108521904G>C	ENSP00000281092:p.Arg736Thr		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.R736T	ENST00000281092.4	37	c.2207	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578314	0.86645	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.82526	-1.62;-1.62	6.02	6.02	0.97574	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.040379	0.85682	D	0.000000	D	0.88112	0.6349	L	0.37750	1.13	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.86811	0.1998	10	0.46703	T	0.11	-29.2912	20.5407	0.99260	0.0:0.0:1.0:0.0	.	736	P16591	FER_HUMAN	T	736;561	ENSP00000281092:R736T;ENSP00000394297:R561T	ENSP00000281092:R736T	R	+	2	0	FER	108549803	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.853000	0.86934	2.865000	0.98341	0.655000	0.94253	AGA	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.488	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	G	NM_005246		108521904	1	no_errors	ENST00000281092	ensembl	human	known	70_37	missense	SNP	1.000	C	C	108521904	G	C	108521904	3	2	185	1	0	0	0	0	1	0	0	0	5831	942	33	1	2273	1	FER	5	108521904	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6006044	108521904	72393356	502	34777										
APC	324	genome.wustl.edu	37	chr5	112136975	112136975	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgttaactccatcttaacaGaggtcatctcagaacaagca	6	10	3	2	rs387906228		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:112136975G>A	ENST00000457016.1	+	8	1109		c.e8-1		APC_ENST00000257430.4_Splice_Site|APC_ENST00000508376.2_Splice_Site			P25054	APC_HUMAN	adenomatous polyposis coli						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATCTTAACAGAGGTCATCTC	0.418		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	large_intestine(1)	GRCh37	CS941417	APC	S							78	72	74					5																	112136975		2202	4300	6502	SO:0001630	splice_region_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.730-1G>A	5.37:g.112136975G>A			D3DT03|Q15162|Q15163|Q93042	Splice_Site	SNP	-	e7-1	ENST00000457016.1	37	c.730-1	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142368	0.77888	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1327	0.93414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APC	112164874	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.060000	0.76692	2.516000	0.84829	0.585000	0.79938	.	APC	-	-		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038	Intron	112136975	1	no_errors	ENST00000257430	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	112136975	G	A	112136975	5	1	185	1	0	0	0	0	0	0	1	0	763	956	33	1	755	1	APC	5	112136975	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3615071	112136975	68778285	503	34778										
SEMA6A	57556	genome.wustl.edu	37	chr5	115814368	115814368	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaaaccacagtgtgattctGatatggcccagcagctgtgt	10	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:115814368G>C	ENST00000343348.6	-	13	2084	c.1297C>G	c.(1297-1299)Cag>Gag	p.Q433E	SEMA6A_ENST00000257414.8_Missense_Mutation_p.Q433E|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.Q433E|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_De_novo_Start_OutOfFrame	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	433	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTGTGATTCTGATATGGCCCA	0.403																																																	0													81	77	79					5																	115814368		1889	4115	6004	SO:0001583	missense	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1297C>G	5.37:g.115814368G>C	ENSP00000345512:p.Gln433Glu		Q9P2H9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.Q433E	ENST00000343348.6	37	c.1297	CCDS47256.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.11|12.11	1.840672|1.840672	0.32513|0.32513	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000510263	.|T;T;T	.|0.21191	.|2.02;2.02;2.02	6.0|6.0	4.17|4.17	0.49024|0.49024	.|WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	.|0.523000	.|0.22780	.|N	.|0.055736	T|T	0.12178|0.12178	0.0296|0.0296	N|N	0.05383|0.05383	-0.06|-0.06	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.05386|0.05386	-1.0888|-1.0888	5|10	.|0.66056	.|D	.|0.02	.|.	12.417|12.417	0.55500|0.55500	0.0:0.2379:0.6389:0.1232|0.0:0.2379:0.6389:0.1232	.|.	.|433;433	.|Q9H2E6;Q9H2E6-2	.|SEM6A_HUMAN;.	M|E	2|433	.|ENSP00000345512:Q433E;ENSP00000257414:Q433E;ENSP00000424388:Q433E	.|ENSP00000257414:Q433E	I|Q	-|-	3|1	3|0	SEMA6A|SEMA6A	115842267|115842267	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.980000|0.980000	0.70556|0.70556	2.887000|2.887000	0.48586|0.48586	0.826000|0.826000	0.34661|0.34661	0.551000|0.551000	0.68910|0.68910	ATC|CAG	SEMA6A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.403	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	G	NM_020796		115814368	-1	no_errors	ENST00000257414	ensembl	human	known	70_37	missense	SNP	1.000	C	C	115814368	G	C	115814368	3	2	185	1	0	0	0	0	1	0	0	0	14069	1299	45	1	1823	1	SEMA6A	5	115814368	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3677393	115814368	65100892	504	34779										
GDF9	2661	genome.wustl.edu	37	chr5	132200003	132200003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggctgcagcctaggtgaccCacctcgcccaacagatagaa	10	14	0	3	rs568092622		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:132200003C>T	ENST00000378673.2	-	2	1089	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	GDF9_ENST00000464378.1_5'UTR|UQCRQ_ENST00000378667.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.G75R|UQCRQ_ENST00000378665.1_5'Flank|UQCRQ_ENST00000378670.3_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	75					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAGGTGACCCACCTCGCCCA	0.498																																																	0													110	117	114					5																	132200003		2203	4300	6503	SO:0001583	missense	2661				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.223G>A	5.37:g.132200003C>T	ENSP00000367942:p.Gly75Arg		Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.G75R	ENST00000378673.2	37	c.223	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650391	0.29336	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.59364	0.27;0.27	5.82	4.96	0.65561	.	0.698819	0.15215	N	0.274258	T	0.64778	0.2629	M	0.77820	2.39	0.09310	N	1	D	0.54964	0.969	P	0.48030	0.564	T	0.59161	-0.7506	10	0.21540	T	0.41	.	14.8563	0.70341	0.0:0.9305:0.0:0.0695	.	75	O60383	GDF9_HUMAN	R	75	ENSP00000367942:G75R;ENSP00000296875:G75R	ENSP00000296875:G75R	G	-	1	0	GDF9	132227902	0.004000	0.15560	0.008000	0.14137	0.398000	0.30690	1.238000	0.32707	1.484000	0.48361	-0.126000	0.14955	GGG	GDF9	-	NULL		0.498	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	C	NM_005260		132200003	-1	no_errors	ENST00000296875	ensembl	human	known	70_37	missense	SNP	0.014	T	T	132200003	C	T	132200003	3	4	185	1	0	0	0	0	1	0	0	0	6338	594	21	4	1149	4	GDF9	5	132200003	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	16385635	132200003	48715257	505	34780										
FAM13B	51306	genome.wustl.edu	37	chr5	137278833	137278833	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaggattaccttgatttcttCaaaaaaatgtgcagtttctc	6	7	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:137278833C>T	ENST00000033079.3	-	20	2798	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K	FAM13B_ENST00000425075.2_Missense_Mutation_p.E659K|FAM13B_ENST00000420893.2_Missense_Mutation_p.E755K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	783					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TTGATTTCTTCAAAAAAATGT	0.353																																																	0													101	102	101					5																	137278833		2203	4300	6503	SO:0001583	missense	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2347G>A	5.37:g.137278833C>T	ENSP00000033079:p.Glu783Lys		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E783K	ENST00000033079.3	37	c.2347	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573913	0.45902	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.23147	2.99;1.92;3.03	6.07	6.07	0.98685	.	0.098532	0.64402	D	0.000002	T	0.31606	0.0802	N	0.25286	0.73	0.53688	D	0.999979	D;B;D	0.67145	0.996;0.2;0.992	D;B;P	0.63192	0.912;0.09;0.82	T	0.02031	-1.1226	10	0.17369	T	0.5	-13.6304	13.7909	0.63140	0.0:0.9305:0.0:0.0695	.	659;755;783	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	K	783;659;755	ENSP00000033079:E783K;ENSP00000394669:E659K;ENSP00000388521:E755K	ENSP00000033079:E783K	E	-	1	0	FAM13B	137306732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.351000	0.79395	2.884000	0.98904	0.655000	0.94253	GAA	FAM13B	-	NULL		0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	C			137278833	-1	no_errors	ENST00000033079	ensembl	human	known	70_37	missense	SNP	1.000	T	T	137278833	C	T	137278833	3	4	185	1	0	0	0	0	1	0	0	0	5468	835	29	1	416	1	FAM13B	5	137278833	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5078830	137278833	43636427	506	34781										
BRD8	10902	genome.wustl.edu	37	chr5	137513280	137513280	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caattttgatcgccacttctCatgacagaagatgctaaaca	6	10	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:137513280C>A	ENST00000254900.5	-	2	467	c.96G>T	c.(94-96)atG>atT	p.M32I	BRD8_ENST00000402931.1_Missense_Mutation_p.M32I|KIF20A_ENST00000394894.3_5'Flank|KIF20A_ENST00000508792.1_5'Flank|BRD8_ENST00000230901.5_Missense_Mutation_p.M32I|BRD8_ENST00000411594.2_Missense_Mutation_p.M32I|BRD8_ENST00000455658.2_Nonsense_Mutation_p.E15*	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	32					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CGCCACTTCTCATGACAGAAG	0.413																																																	0													121	110	114					5																	137513280		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.96G>T	5.37:g.137513280C>A	ENSP00000254900:p.Met32Ile		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Nonsense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E15*	ENST00000254900.5	37	c.43	CCDS4198.1	5	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	35|35|35	5.591266|5.591266|5.591266	0.96590|0.96590|0.96590	.|.|.	.|.|.	ENSG00000112983|ENSG00000112983|ENSG00000112983	ENST00000455658|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000430331|ENST00000441656	.|T;T;T;T;T;T;T|.	.|0.30981|.	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51|.	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	.|.|.	.|0.080882|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.66218|.	.|0.2767|.	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|P;P;P;P|.	.|0.43788|.	.|0.634;0.75;0.75;0.817|.	.|B;B;B;B|.	.|0.39339|.	.|0.117;0.233;0.233;0.297|.	.|T|.	.|0.59500|.	.|-0.7443|.	.|9|.	0.72032|0.59425|.	D|D|.	0.01|0.04|.	-6.9414|-6.9414|-6.9414	19.3279|19.3279|19.3279	0.94270|0.94270|0.94270	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|32;32;32;32|.	.|A8K1N6;Q9H0E9-4;Q9H0E9-2;Q9H0E9|.	.|.;.;.;BRD8_HUMAN|.	X|I|L	15|32;27;27;32;32;32;32|26	.|ENSP00000254900:M32I;ENSP00000398067:M27I;ENSP00000398873:M27I;ENSP00000230901:M32I;ENSP00000384845:M32I;ENSP00000394330:M32I;ENSP00000407414:M32I|.	ENSP00000408396:E15X|ENSP00000230901:M32I|.	E|M|X	-|-|-	1|3|2	0|0|2	BRD8|BRD8|BRD8	137541179|137541179|137541179	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.957000|0.957000|0.957000	0.61999|0.61999|0.61999	5.901000|5.901000|5.901000	0.69861|0.69861|0.69861	2.803000|2.803000|2.803000	0.96430|0.96430|0.96430	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAG|ATG|TGA	BRD8	-	superfamily_Peptidase_M20_dimer		0.413	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	C	NM_006696		137513280	-1	no_errors	ENST00000455658	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	137513280	C	A	137513280	3	1	185	1	0	0	0	0	1	0	0	0	1509	826	29	3	4002	3	BRD8	5	137513280	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	234447	137513280	43401980	507	34782										
CDC23	8697	genome.wustl.edu	37	chr5	137534364	137534364	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttagagaagcccacatcaatGagattctgatacttttgcag	8	8	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:137534364G>C	ENST00000394886.2	-	7	792	c.762C>G	c.(760-762)ctC>ctG	p.L254L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	254					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCACATCAATGAGATTCTGAT	0.403																																																	0													149	160	156					5																	137534364		2203	4300	6503	SO:0001819	synonymous_variant	8697			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.762C>G	5.37:g.137534364G>C			A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	pfam_APC8,pfam_TPR-1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L254	ENST00000394886.2	37	c.762	CCDS4200.2	5																																																																																			CDC23	-	pfscan_TPR-contain_dom		0.403	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC23	HGNC	protein_coding	OTTHUMT00000251275.2	G			137534364	-1	no_errors	ENST00000394886	ensembl	human	known	70_37	silent	SNP	1.000	C	C	137534364	G	C	137534364	2	2	185	1	0	0	0	0	0	0	0	1	3066	1277	45	1		1	CDC23	5	137534364	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	21084	137534364	43380896	508	34783										
PCDHA3	56145	genome.wustl.edu	37	chr5	140180798	140180798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgcaatgttgttctcctggCgagaagatcctggagcccag	12	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140180798C>T	ENST00000522353.2	+	1	16	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.R6*|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	6					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTCCTGGCGAGAAGATCC	0.468																																																	0													75	82	80					5																	140180798		2203	4300	6503	SO:0001587	stop_gained	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.16C>T	5.37:g.140180798C>T	ENSP00000429808:p.Arg6*		O75286	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R6*	ENST00000522353.2	37	c.16	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	12.83	2.055958	0.36277	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	.	.	.	3.57	-6.72	0.01755	.	0.000000	0.38272	U	0.001748	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3813	0.21536	0.2425:0.5674:0.1901:0.0	.	.	.	.	X	6	.	ENSP00000429808:R6X	R	+	1	2	PCDHA3	140160982	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	-0.281000	0.08456	-1.033000	0.03299	-0.291000	0.09656	CGA	PCDHA3	-	NULL		0.468	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	C	NM_018906		140180798	1	no_errors	ENST00000522353	ensembl	human	known	70_37	nonsense	SNP	0.005	T	T	140180798	C	T	140180798	4	4	185	1	0	0	0	0	0	1	0	0	11549	760	27	2	18	2	PCDHA3	5	140180798	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2646434	140180798	40734462	509	34784										
PCDHA9	9752	genome.wustl.edu	37	chr5	140229588	140229588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcggcggttgggcgagcgctCgctgtcgagctacgtgtcag	18	11	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140229588C>T	ENST00000532602.1	+	1	2541	c.1508C>T	c.(1507-1509)tCg>tTg	p.S503L	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.S503L|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCTCGCTGTCGAGC	0.672																																					Melanoma(55;1800 1972 14909)												0													62	68	66					5																	140229588		2196	4271	6467	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1508C>T	5.37:g.140229588C>T	ENSP00000436042:p.Ser503Leu		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S503L	ENST00000532602.1	37	c.1508	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	7.137	0.581054	0.13686	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.62105	0.05;0.05	3.56	-0.997	0.10215	Cadherin (4);Cadherin-like (1);	1.941730	0.04859	N	0.443742	T	0.43964	0.1271	N	0.25890	0.77	0.18873	N	0.999984	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16424	-1.0403	10	0.30854	T	0.27	.	2.5496	0.04745	0.1252:0.4765:0.124:0.2742	.	503;503	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	503	ENSP00000436042:S503L;ENSP00000367362:S503L	ENSP00000367362:S503L	S	+	2	0	PCDHA9	140209772	0.005000	0.15991	0.954000	0.39281	0.275000	0.26752	0.140000	0.16056	-0.022000	0.13986	0.306000	0.20318	TCG	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	C	NM_031857		140229588	1	no_errors	ENST00000532602	ensembl	human	known	70_37	missense	SNP	0.584	T	T	140229588	C	T	140229588	3	4	185	1	0	0	0	0	1	0	0	0	11555	893	31	1	1510	1	PCDHA9	5	140229588	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	48790	140229588	40685672	510	34785										
PCDHA13	56136	genome.wustl.edu	37	chr5	140262422	140262422	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaacagtcttgagcaaatgtCttcattatcacttgtactga	6	8	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140262422C>G	ENST00000289272.2	+	1	569	c.569C>G	c.(568-570)tCt>tGt	p.S190C	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S190C	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAAATGTCTTCATTATCA	0.438																																					Melanoma(147;1739 1852 5500 27947 37288)												0													83	83	83					5																	140262422		2203	4300	6503	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.569C>G	5.37:g.140262422C>G	ENSP00000289272:p.Ser190Cys		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S190C	ENST00000289272.2	37	c.569	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	9.384	1.073819	0.20147	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.52754	0.65;0.71	5.34	2.37	0.29283	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56529	0.1991	L	0.55213	1.73	0.09310	N	1	B;B;D	0.56035	0.034;0.076;0.974	B;B;D	0.68765	0.264;0.107;0.96	T	0.43196	-0.9406	9	0.87932	D	0	.	3.5814	0.07955	0.4102:0.3839:0.1224:0.0835	.	190;190;190	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	190	ENSP00000386821:S190C;ENSP00000289272:S190C	ENSP00000289272:S190C	S	+	2	0	PCDHA13	140242606	0.000000	0.05858	0.001000	0.08648	0.193000	0.23685	0.117000	0.15583	0.608000	0.30000	0.491000	0.48974	TCT	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	C	NM_018904		140262422	1	no_errors	ENST00000289272	ensembl	human	known	70_37	missense	SNP	0.000	G	G	140262422	C	G	140262422	3	3	185	1	0	0	0	0	1	0	0	0	11547	913	32	1	571	1	PCDHA13	5	140262422	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	32834	140262422	40652838	511	34786										
PCDHA13	56136	genome.wustl.edu	37	chr5	140262469	140262469	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cactggacagagaggaaattCaggaacatagtttattactg	10	6	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140262469C>T	ENST00000289272.2	+	1	616	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Nonsense_Mutation_p.Q206*	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAAATTCAGGAACATAG	0.448																																					Melanoma(147;1739 1852 5500 27947 37288)												0													63	65	65					5																	140262469		2203	4300	6503	SO:0001587	stop_gained	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.616C>T	5.37:g.140262469C>T	ENSP00000289272:p.Gln206*		O75277	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q206*	ENST00000289272.2	37	c.616	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847196	0.71603	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	.	.	.	5.58	0.375	0.16188	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	7.632	0.28245	0.1191:0.3519:0.4632:0.0658	.	.	.	.	X	206	.	ENSP00000289272:Q206X	Q	+	1	0	PCDHA13	140242653	0.000000	0.05858	0.000000	0.03702	0.944000	0.59088	-1.398000	0.02509	-0.238000	0.09724	-0.305000	0.09177	CAG	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	C	NM_018904		140262469	1	no_errors	ENST00000289272	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	140262469	C	T	140262469	4	4	185	1	0	0	0	0	0	1	0	0	11547	827	29	1	618	1	PCDHA13	5	140262469	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	47	140262469	40652791	512	34787										
PCDHB7	56129	genome.wustl.edu	37	chr5	140554795	140554795	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcagaataatttgggtttCtgataaagaatgtaaactaa	7	3	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140554795C>T	ENST00000231137.3	+	1	2553	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	793					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGGGTTTCTGATAAAGAA	0.403																																																	0													41	59	53					5																	140554795		2202	4300	6502	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2379C>T	5.37:g.140554795C>T			A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F793	ENST00000231137.3	37	c.2379	CCDS4249.1	5																																																																																			PCDHB7	-	NULL		0.403	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	C	NM_018940		140554795	1	no_errors	ENST00000231137	ensembl	human	known	70_37	silent	SNP	0.017	T	T	140554795	C	T	140554795	2	4	185	1	0	0	0	0	0	0	0	1	11571	912	32	1		1	PCDHB7	5	140554795	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	292326	140554795	40360465	513	34788										
PCDHB12	56124	genome.wustl.edu	37	chr5	140589356	140589356	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagatattcgcaagacatttGaaattaatcaaaagtctggt	7	5	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140589356G>C	ENST00000239450.2	+	1	1066	c.877G>C	c.(877-879)Gaa>Caa	p.E293Q	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGACATTTGAAATTAATCA	0.413																																																	0													84	90	88					5																	140589356		2203	4300	6503	SO:0001583	missense	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.877G>C	5.37:g.140589356G>C	ENSP00000239450:p.Glu293Gln		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E293Q	ENST00000239450.2	37	c.877	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.539386	0.00942	.	.	ENSG00000120328	ENST00000239450	T	0.53206	0.63	4.06	-0.216	0.13153	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20251	0.0487	N	0.12527	0.23	0.37406	D	0.913031	B	0.16166	0.016	B	0.24006	0.05	T	0.30851	-0.9964	9	0.05436	T	0.98	.	3.888	0.09107	0.518:0.1954:0.2866:0.0	.	293	Q9Y5F1	PCDBC_HUMAN	Q	293	ENSP00000239450:E293Q	ENSP00000239450:E293Q	E	+	1	0	PCDHB12	140569540	0.000000	0.05858	0.151000	0.22473	0.494000	0.33585	-1.463000	0.02361	0.299000	0.22661	0.491000	0.48974	GAA	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.413	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	G	NM_018932		140589356	1	no_errors	ENST00000239450	ensembl	human	known	70_37	missense	SNP	0.068	C	C	140589356	G	C	140589356	3	2	185	1	0	0	0	0	1	0	0	0	11561	1291	45	1	879	1	PCDHB12	5	140589356	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	34561	140589356	40325904	514	34789										
PCDHB15	56121	genome.wustl.edu	37	chr5	140626409	140626409	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccgagtacaacatcaccatCaccatcacagacttggggac	8	14	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140626409C>T	ENST00000231173.3	+	1	1263	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.I421I(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCACCATCACCATCACAG	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)											103	95	98					5																	140626409		2203	4300	6503	SO:0001819	synonymous_variant	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1263C>T	5.37:g.140626409C>T			Q8IUX5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I421	ENST00000231173.3	37	c.1263	CCDS4257.1	5																																																																																			PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	C	NM_018935		140626409	1	no_errors	ENST00000231173	ensembl	human	known	70_37	silent	SNP	0.006	T	T	140626409	C	T	140626409	2	4	185	1	0	0	0	0	0	0	0	1	11564	816	29	1		1	PCDHB15	5	140626409	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	37053	140626409	40288851	515	34790										
PCDHGA2	56113	genome.wustl.edu	37	chr5	140719441	140719441	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagtcaacatctggagaactGacaatcataaaagatctaga	7	7	4	4	rs141252229		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140719441G>A	ENST00000394576.2	+	1	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGAACTGACAATCATAA	0.428													g|||	1	0.000199681	8e-04	0	5008	,	,		20052	0		0	False		,,,				2504	0																0								G	,,	15,4391		0,15,2188	144	155	151		,903,903	-0.3	0	5	dbSNP_134	151	0,8600		0,0,4300	no	intron,coding-synonymous,coding-synonymous	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,,	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	,,	,301/933,301/824	140719441	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.903G>A	5.37:g.140719441G>A			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L301	ENST00000394576.2	37	c.903	CCDS47289.1	5																																																																																			PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.428	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140719441	1	no_errors	ENST00000394576	ensembl	human	known	70_37	silent	SNP	0.019	A	A	140719441	G	A	140719441	2	1	185	1	0	0	0	0	0	0	0	1	11578	1277	45	1		1	PCDHGA2	5	140719441	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	93032	140719441	40195819	516	34791										
PCDHGB3	56102	genome.wustl.edu	37	chr5	140750772	140750772	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgatggccattgacatggatGagggcatcaatgccgaaatc	12	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:140750772G>A	ENST00000576222.1	+	1	942	c.811G>A	c.(811-813)Gag>Aag	p.E271K	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACATGGATGAGGGCATCAA	0.473																																																	0													102	106	105					5																	140750772		2092	4228	6320	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.811G>A	5.37:g.140750772G>A	ENSP00000461862:p.Glu271Lys		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E271K	ENST00000576222.1	37	c.811	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.473	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	G	NM_018924		140750772	1	no_errors	ENST00000576222	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140750772	G	A	140750772	3	1	185	1	0	0	0	0	1	0	0	0	11588	1291	45	1	813	1	PCDHGB3	5	140750772	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	31331	140750772	40164488	517	34792										
RELL2	285613	genome.wustl.edu	37	chr5	141018420	141018420	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attgttcgctgcatcatccaGaatgaaggtgggtctagcat	11	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:141018420G>A	ENST00000297164.3	+	2	1443	c.243G>A	c.(241-243)caG>caA	p.Q81Q	RELL2_ENST00000518856.1_Silent_p.Q15Q|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Silent_p.Q81Q|FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000521367.1_Silent_p.Q15Q|HDAC3_ENST00000305264.3_5'Flank	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	81					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCATCCAGAATGAAGGTG	0.507																																																	0													179	180	180					5																	141018420		2203	4300	6503	SO:0001819	synonymous_variant	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"chromosome 5 open reading frame 16"	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.243G>A	5.37:g.141018420G>A			D3DQE2|Q6P4E7|Q6UXY2	Silent	SNP	pfam_TNF_rcpt_RELT	p.Q81	ENST00000297164.3	37	c.243	CCDS4265.1	5																																																																																			RELL2	-	NULL		0.507	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELL2	HGNC	protein_coding	OTTHUMT00000251807.2	G	NM_173828		141018420	1	no_errors	ENST00000297164	ensembl	human	known	70_37	silent	SNP	1.000	A	A	141018420	G	A	141018420	2	1	185	1	0	0	0	0	0	0	0	1	13249	933	33	1		1	RELL2	5	141018420	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	267648	141018420	39896840	518	34793										
PCDH1	5097	genome.wustl.edu	37	chr5	141243154	141243154	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggctttggggacttgctcttCttgcctttgcttttgtttcc	10	10	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:141243154C>G	ENST00000394536.3	-	3	2881	c.2742G>C	c.(2740-2742)aaG>aaC	p.K914N	PCDH1_ENST00000456271.1_Missense_Mutation_p.K902N|PCDH1_ENST00000287008.3_Missense_Mutation_p.K914N|PCDH1_ENST00000536585.1_Missense_Mutation_p.K892N|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	914					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACTTGCTCTTCTTGCCTTTGC	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)												0													79	80	80					5																	141243154		2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2742G>C	5.37:g.141243154C>G	ENSP00000378043:p.Lys914Asn		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K914N	ENST00000394536.3	37	c.2742	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983974	0.35036	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.75	2.8	0.32819	Protocadherin (1);	0.117336	0.37715	N	0.001971	T	0.54711	0.1875	L	0.61036	1.89	0.50632	D	0.99988	P;D	0.69078	0.661;0.997	B;D	0.66979	0.375;0.948	T	0.56044	-0.8044	10	0.66056	D	0.02	.	8.1269	0.31003	0.0:0.783:0.0:0.217	.	914;914	Q08174;Q08174-2	PCDH1_HUMAN;.	N	914;914;902;925;892	ENSP00000287008:K914N;ENSP00000378043:K914N;ENSP00000403497:K902N;ENSP00000350122:K925N;ENSP00000438825:K892N	ENSP00000287008:K914N	K	-	3	2	PCDH1	141223338	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.882000	0.28186	1.221000	0.43506	0.457000	0.33378	AAG	PCDH1	-	pfam_Protocadherin		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	C	NM_032420		141243154	-1	no_errors	ENST00000287008	ensembl	human	known	70_37	missense	SNP	1.000	G	G	141243154	C	G	141243154	3	3	185	1	0	0	0	0	1	0	0	0	11530	912	32	1	1067	1	PCDH1	5	141243154	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	224734	141243154	39672106	519	34794										
PCDH1	5097	genome.wustl.edu	37	chr5	141243226	141243226	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacaggtccttggtctccttCttaccagcctggtaaccact	7	14	2	0	rs369271105		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:141243226C>T	ENST00000394536.3	-	3	2809	c.2670G>A	c.(2668-2670)aaG>aaA	p.K890K	PCDH1_ENST00000456271.1_Silent_p.K878K|PCDH1_ENST00000287008.3_Silent_p.K890K|PCDH1_ENST00000536585.1_Silent_p.K868K|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	890					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGTCTCCTTCTTACCAGCCT	0.592																																					Ovarian(132;1609 1739 4190 14731 45037)												0								C	,	0,4406		0,0,2203	148	149	149		2670,2670	3.9	1	5		149	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	PCDH1	NM_002587.3,NM_032420.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	890/1061,890/1238	141243226	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2670G>A	5.37:g.141243226C>T			Q8IUP2	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K890	ENST00000394536.3	37	c.2670	CCDS43375.1	5																																																																																			PCDH1	-	pfam_Protocadherin		0.592	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	C	NM_032420		141243226	-1	no_errors	ENST00000287008	ensembl	human	known	70_37	silent	SNP	1.000	T	T	141243226	C	T	141243226	2	4	185	1	0	0	0	0	0	0	0	1	11530	912	32	1		1	PCDH1	5	141243226	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	72	141243226	39672034	520	34795										
PCDH12	51294	genome.wustl.edu	37	chr5	141336211	141336211	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgttgccattagttcttttCagcctgaagtggcccagctc	10	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:141336211C>T	ENST00000231484.3	-	1	2416	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	402	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTTCTTTTCAGCCTGAAGT	0.488																																																	0													139	127	131					5																	141336211		2203	4300	6503	SO:0001819	synonymous_variant	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1206G>A	5.37:g.141336211C>T			Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L402	ENST00000231484.3	37	c.1206	CCDS4269.1	5																																																																																			PCDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.488	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	C	NM_016580		141336211	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	silent	SNP	0.999	T	T	141336211	C	T	141336211	2	4	185	1	0	0	0	0	0	0	0	1	11534	813	29	1		1	PCDH12	5	141336211	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	92985	141336211	39579049	521	34796										
SH3RF2	153769	genome.wustl.edu	37	chr5	145379738	145379738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgagaattggtaccaggggGaaatcaatggcatcagcggg	15	6	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:145379738G>A	ENST00000511217.1	+	2	548	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.E166K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	166	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACCAGGGGGAAATCAATGG	0.547																																																	0													60	62	61					5																	145379738		2203	4300	6503	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.496G>A	5.37:g.145379738G>A	ENSP00000424497:p.Glu166Lys		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.E166K	ENST00000511217.1	37	c.496	CCDS4280.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494648	0.85069	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.31247	1.5;1.5	6.17	6.17	0.99709	Src homology-3 domain (3);Variant SH3 (1);	0.065546	0.64402	D	0.000006	T	0.52533	0.1740	M	0.63428	1.95	0.58432	D	0.999992	D	0.67145	0.996	D	0.65573	0.936	T	0.48833	-0.9000	10	0.72032	D	0.01	-35.8695	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	166	Q8TEC5	SH3R2_HUMAN	K	166	ENSP00000352028:E166K;ENSP00000424497:E166K	ENSP00000352028:E166K	E	+	1	0	SH3RF2	145359931	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	GAA	SH3RF2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.547	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	G	NM_152550		145379738	1	no_errors	ENST00000359120	ensembl	human	known	70_37	missense	SNP	1.000	A	A	145379738	G	A	145379738	3	1	185	1	0	0	0	0	1	0	0	0	14289	1175	41	1	502	1	SH3RF2	5	145379738	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4043527	145379738	35535522	522	34797										
LARS	51520	genome.wustl.edu	37	chr5	145509623	145509623	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctcacacaaatgtggacaGaatggagcgaggagaagtgt	14	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:145509623G>C	ENST00000394434.2	-	25	2752	c.2586C>G	c.(2584-2586)ttC>ttG	p.F862L	LARS_ENST00000545646.1_Missense_Mutation_p.F816L|LARS_ENST00000510191.1_Missense_Mutation_p.F808L|LARS_ENST00000274562.9_Missense_Mutation_p.F835L	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	862					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AATGTGGACAGAATGGAGCGA	0.433																																																	0													120	100	107					5																	145509623		2203	4300	6503	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2586C>G	5.37:g.145509623G>C	ENSP00000377954:p.Phe862Leu		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.F862L	ENST00000394434.2	37	c.2586	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964517	0.53507	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.56	5.56	0.83823	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.045455	0.85682	D	0.000000	T	0.12475	0.0303	N	0.16862	0.45	0.39568	D	0.96923	B;B;B	0.12630	0.001;0.006;0.002	B;B;B	0.15870	0.004;0.013;0.014	T	0.07214	-1.0784	10	0.48119	T	0.1	-12.4481	14.3808	0.66908	0.0:0.0:0.8521:0.1479	.	835;816;862	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	L	862;816;171;808;835	ENSP00000377954:F862L;ENSP00000437791:F816L;ENSP00000426005:F808L;ENSP00000274562:F835L	ENSP00000274562:F835L	F	-	3	2	LARS	145489816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.881000	0.56152	2.619000	0.88677	0.557000	0.71058	TTC	LARS	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Leu-tRNA-synth_Ia_arc/euk		0.433	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	G	NM_020117		145509623	-1	no_errors	ENST00000394434	ensembl	human	known	70_37	missense	SNP	1.000	C	C	145509623	G	C	145509623	3	2	185	1	0	0	0	0	1	0	0	0	8654	933	33	1	976	1	LARS	5	145509623	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	129885	145509623	35405637	523	34798										
RBM27	54439	genome.wustl.edu	37	chr5	145613045	145613045	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgtacttggtgacctttgtCagtttgatcatggaaatgat	11	5	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:145613045C>T	ENST00000265271.5	+	7	1049	c.883C>T	c.(883-885)Cag>Tag	p.Q295*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.Q295*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	295					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCTTTGTCAGTTTGATCA	0.403																																																	0													247	223	230					5																	145613045		1568	3582	5150	SO:0001587	stop_gained	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.883C>T	5.37:g.145613045C>T	ENSP00000265271:p.Gln295*		Q8IYW9	Nonsense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.Q295*	ENST00000265271.5	37	c.883	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	38	7.092432	0.98059	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-9.424	19.5669	0.95397	0.0:1.0:0.0:0.0	.	.	.	.	X	295	.	ENSP00000265271:Q295X	Q	+	1	0	RBM27	145593238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.927000	0.75840	2.694000	0.91930	0.655000	0.94253	CAG	RBM27	-	pfam_Znf_CCCH		0.403	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	C	XM_291128		145613045	1	no_errors	ENST00000265271	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	145613045	C	T	145613045	4	4	185	1	0	0	0	0	0	1	0	0	13157	827	29	1	909	1	RBM27	5	145613045	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	103422	145613045	35302215	524	34799										
RBM27	54439	genome.wustl.edu	37	chr5	145651202	145651202	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taacagttggaggattcattGaggaagaaaaagaagacttg	12	3	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:145651202G>A	ENST00000265271.5	+	19	3119	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	RBM27_ENST00000506502.1_Missense_Mutation_p.E930K	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	985					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGATTCATTGAGGAAGAAAA	0.448																																																	0													129	124	126					5																	145651202		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2953G>A	5.37:g.145651202G>A	ENSP00000265271:p.Glu985Lys		Q8IYW9	Missense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.E985K	ENST00000265271.5	37	c.2953	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762295	0.69763	.	.	ENSG00000091009	ENST00000265271	T	0.48201	0.82	5.04	5.04	0.67666	.	0.072326	0.56097	D	0.000024	T	0.42539	0.1207	L	0.47190	1.495	0.47341	D	0.999398	P	0.34662	0.462	B	0.28638	0.092	T	0.39165	-0.9627	10	0.41790	T	0.15	-15.1088	18.7687	0.91882	0.0:0.0:1.0:0.0	.	985	Q9P2N5	RBM27_HUMAN	K	985	ENSP00000265271:E985K	ENSP00000265271:E985K	E	+	1	0	RBM27	145631395	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	3.758000	0.55220	2.517000	0.84864	0.650000	0.86243	GAG	RBM27	-	NULL		0.448	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	G	XM_291128		145651202	1	no_errors	ENST00000265271	ensembl	human	known	70_37	missense	SNP	0.998	A	A	145651202	G	A	145651202	3	1	185	1	0	0	0	0	1	0	0	0	13157	1291	45	1	3027	1	RBM27	5	145651202	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	38157	145651202	35264058	525	34800										
C5orf46	389336	genome.wustl.edu	37	chr5	147281297	147281297	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggctttgggtctttgcccGagtcgtctggcttgtcgtct	13	11	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:147281297G>T	ENST00000318315.4	-	2	110	c.110C>A	c.(109-111)tCg>tAg	p.S37*	C5orf46_ENST00000515291.1_Nonsense_Mutation_p.S37*|C5orf46_ENST00000510432.1_5'UTR	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	37						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						GTCTTTGCCCGAgtcgtctgg	0.493																																																	0													232	206	215					5																	147281297		2203	4300	6503	SO:0001587	stop_gained	389336				CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"skin and saliva secreted protein 1"						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.110C>A	5.37:g.147281297G>T	ENSP00000315370:p.Ser37*		A8K038|Q8WU04	Nonsense_Mutation	SNP	NULL	p.S37*	ENST00000318315.4	37	c.110	CCDS34267.1	5	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016024	0.35606	.	.	ENSG00000178776	ENST00000318315;ENST00000515291	.	.	.	4.96	4.09	0.47781	.	0.000000	0.43110	D	0.000611	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5248	9.6599	0.39950	0.0945:0.0:0.9055:0.0	.	.	.	.	X	37	.	ENSP00000315370:S37X	S	-	2	0	C5orf46	147261490	0.569000	0.26643	0.761000	0.31378	0.177000	0.22998	1.943000	0.40253	1.470000	0.48102	-0.119000	0.15052	TCG	C5orf46	-	NULL		0.493	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf46	HGNC	protein_coding	OTTHUMT00000373314.1	G	NM_206966		147281297	-1	no_errors	ENST00000318315	ensembl	human	known	70_37	nonsense	SNP	0.801	T	T	147281297	G	T	147281297	4	4	185	1	0	0	0	0	0	1	0	0	2310	1059	37	3	161	3	C5orf46	5	147281297	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1630095	147281297	33633963	526	34801										
PPARGC1B	133522	genome.wustl.edu	37	chr5	149206428	149206428	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agccctcggccccagcccctGaggtggacgagctctcactg	12	17	1	1	rs372010949		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:149206428G>A	ENST00000309241.5	+	3	477	c.445G>A	c.(445-447)Gag>Aag	p.E149K	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E149K|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E149K|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E124K	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	149					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCAGCCCCTGAGGTGGACGA	0.607																																																	0													44	51	48					5																	149206428		2203	4300	6503	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.445G>A	5.37:g.149206428G>A	ENSP00000312649:p.Glu149Lys		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E149K	ENST00000309241.5	37	c.445	CCDS4298.1	5	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556330	0.65425	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.23348	2.88;1.91;1.95;2.91	5.27	5.27	0.74061	.	0.304911	0.37623	N	0.002005	T	0.35307	0.0927	M	0.71206	2.165	0.41008	D	0.984988	P;P;P;P;P	0.52316	0.925;0.925;0.925;0.952;0.873	B;P;B;B;B	0.47162	0.443;0.54;0.443;0.417;0.385	T	0.16808	-1.0390	10	0.17832	T	0.49	-10.6407	16.6886	0.85315	0.0:0.0:1.0:0.0	.	128;128;149;149;149	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	K	149;149;149;124	ENSP00000353638:E149K;ENSP00000377855:E149K;ENSP00000312649:E149K;ENSP00000384403:E124K	ENSP00000312649:E149K	E	+	1	0	PPARGC1B	149186621	1.000000	0.71417	0.293000	0.24932	0.202000	0.24057	6.172000	0.71932	2.466000	0.83321	0.650000	0.86243	GAG	PPARGC1B	-	NULL		0.607	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1	G	NM_133263		149206428	1	no_errors	ENST00000309241	ensembl	human	known	70_37	missense	SNP	1.000	A	A	149206428	G	A	149206428	3	1	185	1	0	0	0	0	1	0	0	0	12325	1291	45	1	462	1	PPARGC1B	5	149206428	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1925131	149206428	31708832	527	34802										
PDGFRB	5159	genome.wustl.edu	37	chr5	149504303	149504303	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tactcacatttaagcatcttGacggccactttcatcgtggc	7	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:149504303G>C	ENST00000261799.4	-	13	2368	c.1899C>G	c.(1897-1899)gtC>gtG	p.V633V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	633	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGCATCTTGACGGCCACTT	0.622			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													47	47	47					5																	149504303		2203	4300	6503	SO:0001819	synonymous_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1899C>G	5.37:g.149504303G>C			B5A957|Q8N5L4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.V633	ENST00000261799.4	37	c.1899	CCDS4303.1	5																																																																																			PDGFRB	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.622	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	G	NM_002609		149504303	-1	no_errors	ENST00000261799	ensembl	human	known	70_37	silent	SNP	1.000	C	C	149504303	G	C	149504303	2	2	185	1	0	0	0	0	0	0	0	1	11686	1277	45	1		1	PDGFRB	5	149504303	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	297875	149504303	31410957	528	34803										
CAMK2A	815	genome.wustl.edu	37	chr5	149627368	149627368	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtggccagcatcgtggtgaGaatggctccctgcaagacat	14	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:149627368G>C	ENST00000348628.6	-	12	1575	c.910C>G	c.(910-912)Ctc>Gtc	p.L304V	CAMK2A_ENST00000351010.6_5'Flank|CAMK2A_ENST00000398376.3_Missense_Mutation_p.L304V	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	304					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGTGGTGAGAATGGCTCCC	0.632																																																	0													60	70	67					5																	149627368		2071	4216	6287	SO:0001583	missense	815			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.910C>G	5.37:g.149627368G>C	ENSP00000261793:p.Leu304Val		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L304V	ENST00000348628.6	37	c.910	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198443	0.79015	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.68765	-0.35;-0.35	5.59	5.59	0.84812	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000009	T	0.75817	0.3901	M	0.85099	2.735	0.80722	D	1	P;B;P	0.43607	0.812;0.34;0.714	B;B;B	0.43575	0.424;0.216;0.243	T	0.79567	-0.1750	10	0.56958	D	0.05	.	19.9468	0.97185	0.0:0.0:1.0:0.0	.	304;304;304	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	V	304	ENSP00000261793:L304V;ENSP00000381412:L304V	ENSP00000261793:L304V	L	-	1	0	CAMK2A	149607561	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.798000	0.85924	2.795000	0.96236	0.655000	0.94253	CTC	CAMK2A	-	superfamily_Kinase-like_dom		0.632	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	G	NM_015981		149627368	-1	no_errors	ENST00000398376	ensembl	human	known	70_37	missense	SNP	1.000	C	C	149627368	G	C	149627368	3	2	185	1	0	0	0	0	1	0	0	0	2604	942	33	1	591	1	CAMK2A	5	149627368	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	123065	149627368	31287892	529	34804										
TCOF1	6949	genome.wustl.edu	37	chr5	149755772	149755772	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaaagcaggaactgcgacttCtccagcaggctcatccccag	10	14	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:149755772C>T	ENST00000504761.2	+	13	2021	c.2021C>T	c.(2020-2022)tCt>tTt	p.S674F	TCOF1_ENST00000513346.1_Missense_Mutation_p.S674F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S674F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S674F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S597F|TCOF1_ENST00000451292.1_Missense_Mutation_p.S674F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S597F|TCOF1_ENST00000394269.3_Missense_Mutation_p.S674F			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	674					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGCGACTTCTCCAGCAGGC	0.582																																																	0													108	126	120					5																	149755772		2201	4298	6499	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2021C>T	5.37:g.149755772C>T	ENSP00000421655:p.Ser674Phe		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.S674F	ENST00000504761.2	37	c.2021	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735694	0.49045	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.1	3.05	0.35203	Treacher Collins syndrome, treacle (1);	0.642872	0.12995	N	0.422113	T	0.80281	0.4594	M	0.70595	2.14	0.09310	N	1	D;P;P;P;D;P;D	0.76494	0.997;0.899;0.899;0.899;0.999;0.899;0.962	D;P;P;P;D;P;P	0.72338	0.959;0.667;0.487;0.667;0.977;0.487;0.778	T	0.66500	-0.5908	10	0.72032	D	0.01	-6.2262	6.7565	0.23516	0.0:0.7419:0.0:0.2581	.	183;674;597;674;674;597;674	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	F	674;674;597;597;674;674;674;674;674	ENSP00000400939:S674F;ENSP00000367028:S674F;ENSP00000409944:S597F;ENSP00000325223:S597F;ENSP00000406888:S674F;ENSP00000377811:S674F;ENSP00000390717:S674F;ENSP00000421655:S674F;ENSP00000427484:S674F	ENSP00000325223:S597F	S	+	2	0	TCOF1	149735965	0.002000	0.14202	0.000000	0.03702	0.033000	0.12548	1.324000	0.33712	0.480000	0.27534	0.511000	0.50034	TCT	TCOF1	-	pfam_TCS_treacle		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	C	NM_001008656		149755772	1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.001	T	T	149755772	C	T	149755772	3	4	185	1	0	0	0	0	1	0	0	0	15738	913	32	1	2071	1	TCOF1	5	149755772	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	128404	149755772	31159488	530	34805										
ZNF300	91975	genome.wustl.edu	37	chr5	150277651	150277651	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccatctgcctgatattcatCtggatagatccaatttgata	6	10	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150277651C>G	ENST00000274599.5	-	5	658	c.238G>C	c.(238-240)Gat>Cat	p.D80H	ZNF300_ENST00000418587.2_Missense_Mutation_p.D44H|ZNF300_ENST00000446148.2_Missense_Mutation_p.D96H|ZNF300_ENST00000427179.1_Missense_Mutation_p.D80H|ZNF300_ENST00000394226.2_Missense_Mutation_p.D80H	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATATTCATCTGGATAGATC	0.368																																																	0													191	170	177					5																	150277651		2203	4300	6503	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.238G>C	5.37:g.150277651C>G	ENSP00000274599:p.Asp80His		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D96H	ENST00000274599.5	37	c.286	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	C	9.841	1.191168	0.21954	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.10288	3.05;3.06;2.89;5.7;3.06	3.59	2.69	0.31865	.	.	.	.	.	T	0.08891	0.0220	L	0.46157	1.445	0.31214	N	0.698326	B	0.34015	0.435	B	0.26770	0.073	T	0.12889	-1.0530	9	0.21014	T	0.42	.	10.181	0.42968	0.2156:0.7844:0.0:0.0	.	80	Q96RE9	ZN300_HUMAN	H	96;80;44;80;80	ENSP00000397178:D96H;ENSP00000274599:D80H;ENSP00000392593:D44H;ENSP00000414195:D80H;ENSP00000377773:D80H	ENSP00000274599:D80H	D	-	1	0	ZNF300	150257844	0.733000	0.28132	0.887000	0.34795	0.920000	0.55202	1.581000	0.36558	0.813000	0.34350	0.563000	0.77884	GAT	ZNF300	-	NULL		0.368	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		C	NM_052860		150277651	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	missense	SNP	0.992	G	G	150277651	C	G	150277651	3	3	185	1	0	0	0	0	1	0	0	0	17861	913	32	1	1584	1	ZNF300	5	150277651	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	521879	150277651	30637609	531	34806										
ZNF300	91975	genome.wustl.edu	37	chr5	150277675	150277675	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atagatccaatttgatatgtCtccctttatgatccatggct	6	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150277675C>T	ENST00000274599.5	-	5	634	c.214G>A	c.(214-216)Gac>Aac	p.D72N	ZNF300_ENST00000418587.2_Missense_Mutation_p.D36N|ZNF300_ENST00000446148.2_Missense_Mutation_p.D88N|ZNF300_ENST00000427179.1_Missense_Mutation_p.D72N|ZNF300_ENST00000394226.2_Missense_Mutation_p.D72N	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTGATATGTCTCCCTTTATG	0.383																																																	0													182	162	169					5																	150277675		2203	4300	6503	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.214G>A	5.37:g.150277675C>T	ENSP00000274599:p.Asp72Asn		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D88N	ENST00000274599.5	37	c.262	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269804	0.40095	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.08193	3.18;3.19;3.12;5.85;3.19	3.49	1.66	0.24008	Krueppel-associated box (1);	.	.	.	.	T	0.06371	0.0164	N	0.21194	0.64	0.18873	N	0.999987	B	0.24186	0.099	B	0.24701	0.055	T	0.36456	-0.9747	9	0.72032	D	0.01	.	7.4476	0.27219	0.0:0.7758:0.0:0.2242	.	72	Q96RE9	ZN300_HUMAN	N	88;72;36;72;72	ENSP00000397178:D88N;ENSP00000274599:D72N;ENSP00000392593:D36N;ENSP00000414195:D72N;ENSP00000377773:D72N	ENSP00000274599:D72N	D	-	1	0	ZNF300	150257868	0.028000	0.19301	0.945000	0.38365	0.856000	0.48823	0.262000	0.18460	0.293000	0.22520	0.563000	0.77884	GAC	ZNF300	-	pfscan_Krueppel-associated_box		0.383	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		C	NM_052860		150277675	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	missense	SNP	0.486	T	T	150277675	C	T	150277675	3	4	185	1	0	0	0	0	1	0	0	0	17861	913	32	1	1608	1	ZNF300	5	150277675	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	24	150277675	30637585	532	34807										
SLC36A2	153201	genome.wustl.edu	37	chr5	150714911	150714911	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggtaatgtactgtatgatGatgaccaagctgaccagcat	11	7	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150714911G>A	ENST00000335244.4	-	6	852	c.723C>T	c.(721-723)atC>atT	p.I241I	SLC36A2_ENST00000521967.1_Silent_p.I241I|SLC36A2_ENST00000450886.1_5'Flank	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	241					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	ACTGTATGATGATGACCAAGC	0.522																																																	0													133	119	123					5																	150714911		2203	4300	6503	SO:0001819	synonymous_variant	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.723C>T	5.37:g.150714911G>A			Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	pfam_AA_transpt_TM	p.I241	ENST00000335244.4	37	c.723	CCDS4315.1	5																																																																																			SLC36A2	-	pfam_AA_transpt_TM		0.522	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	G			150714911	-1	no_errors	ENST00000335244	ensembl	human	known	70_37	silent	SNP	1.000	A	A	150714911	G	A	150714911	2	1	185	1	0	0	0	0	0	0	0	1	14624	1280	45	1		1	SLC36A2	5	150714911	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	437236	150714911	30200349	533	34808										
FAT2	2196	genome.wustl.edu	37	chr5	150932740	150932740	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccctaggccttgcctcacctGagatgttgaaccagaagagt	10	12	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150932740G>C	ENST00000261800.5	-	5	4166	c.4154C>G	c.(4153-4155)tCa>tGa	p.S1385*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1385	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1385*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTCACCTGAGATGTTGAA	0.547																																																	1	Substitution - Nonsense(1)	cervix(1)											83	80	81					5																	150932740		2203	4300	6503	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4154C>G	5.37:g.150932740G>C	ENSP00000261800:p.Ser1385*		O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1385*	ENST00000261800.5	37	c.4154	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	44	10.707171	0.99454	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.23	5.23	0.72850	.	0.442716	0.19308	N	0.117466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.8145	0.88627	0.0:0.0:1.0:0.0	.	.	.	.	X	1385	.	ENSP00000261800:S1385X	S	-	2	0	FAT2	150912933	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.794000	0.55492	2.453000	0.82957	0.561000	0.74099	TCA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150932740	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	150932740	G	C	150932740	4	2	185	1	0	0	0	0	0	1	0	0	5708	1294	45	1	8971	1	FAT2	5	150932740	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	217829	150932740	29982520	534	34809										
FAT2	2196	genome.wustl.edu	37	chr5	150942963	150942963	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagcttccctttggagctgGagtctgggtcccaggcatcc	12	13	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:150942963G>C	ENST00000261800.5	-	2	3509	c.3497C>G	c.(3496-3498)tCc>tGc	p.S1166C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1166	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTGGAGCTGGAGTCTGGGTC	0.537																																																	0													112	108	109					5																	150942963		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3497C>G	5.37:g.150942963G>C	ENSP00000261800:p.Ser1166Cys		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1166C	ENST00000261800.5	37	c.3497	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109324	0.56398	.	.	ENSG00000086570	ENST00000261800	T	0.53857	0.6	5.03	4.14	0.48551	Cadherin (4);Cadherin-like (1);	0.428133	0.22375	N	0.060888	T	0.74092	0.3671	M	0.92268	3.29	0.19945	N	0.999949	D	0.58620	0.983	P	0.56788	0.806	T	0.71101	-0.4690	10	0.66056	D	0.02	.	14.1656	0.65475	0.074:0.0:0.926:0.0	.	1166	Q9NYQ8	FAT2_HUMAN	C	1166	ENSP00000261800:S1166C	ENSP00000261800:S1166C	S	-	2	0	FAT2	150923156	1.000000	0.71417	0.989000	0.46669	0.808000	0.45660	2.518000	0.45537	1.227000	0.43598	0.561000	0.74099	TCC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150942963	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.395	C	C	150942963	G	C	150942963	3	2	185	1	0	0	0	0	1	0	0	0	5708	1174	41	1	9640	1	FAT2	5	150942963	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	10223	150942963	29972297	535	34810										
LARP1	23367	genome.wustl.edu	37	chr5	154179226	154179226	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggaaccagaaaagtggcctCttcccccaatagtggattat	9	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:154179226C>T	ENST00000336314.4	+	9	1246	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	485	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAGTGGCCTCTTCCCCCAAT	0.507																																																	0													137	134	135					5																	154179226		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1222C>T	5.37:g.154179226C>T	ENSP00000336721:p.Leu408Phe		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.L408F	ENST00000336314.4	37	c.1222	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130395	0.77549	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.95	5.95	0.96441	RNA-binding protein Lupus La (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	N	0.08118	0	0.58432	D	0.999996	D;D	0.65815	0.995;0.991	P;D	0.66979	0.893;0.948	T	0.52071	-0.8624	10	0.72032	D	0.01	-14.5588	14.5295	0.67915	0.0:0.9306:0.0:0.0694	.	485;408	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	F	408;485;280;193;92	ENSP00000336721:L408F;ENSP00000428589:L485F;ENSP00000429904:L280F;ENSP00000430438:L193F;ENSP00000431072:L92F	ENSP00000336721:L408F	L	+	1	0	LARP1	154159419	0.950000	0.32346	1.000000	0.80357	0.990000	0.78478	1.582000	0.36568	2.824000	0.97209	0.655000	0.94253	CTT	LARP1	-	pfscan_Lupus_La_RNA-bd		0.507	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	C	NM_033551		154179226	1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154179226	C	T	154179226	3	4	185	1	0	0	0	0	1	0	0	0	8648	913	32	1	1256	1	LARP1	5	154179226	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3236263	154179226	26736034	536	34811										
LARP1	23367	genome.wustl.edu	37	chr5	154190876	154190876	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagttccggctggacatattCaaggattttcaggaggaaac	11	7	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:154190876C>G	ENST00000336314.4	+	17	2706	c.2682C>G	c.(2680-2682)ttC>ttG	p.F894L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	971					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGACATATTCAAGGATTTTC	0.473																																																	0													117	112	114					5																	154190876		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2682C>G	5.37:g.154190876C>G	ENSP00000336721:p.Phe894Leu		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.F894L	ENST00000336314.4	37	c.2682	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670793	0.88348	.	.	ENSG00000155506	ENST00000336314	T	0.35421	1.31	6.04	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	M	0.72624	2.21	0.58432	D	0.999996	P;P	0.52463	0.573;0.953	B;P	0.57101	0.303;0.813	T	0.47649	-0.9101	10	0.51188	T	0.08	-13.803	9.0128	0.36150	0.0:0.7117:0.0:0.2883	.	971;894	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	L	894	ENSP00000336721:F894L	ENSP00000336721:F894L	F	+	3	2	LARP1	154171069	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.168000	0.31859	0.810000	0.34279	0.561000	0.74099	TTC	LARP1	-	smart_DM15		0.473	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	C	NM_033551		154190876	1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	G	G	154190876	C	G	154190876	3	3	185	1	0	0	0	0	1	0	0	0	8648	825	29	1	2748	1	LARP1	5	154190876	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	11650	154190876	26724384	537	34812										
KIF4B	285643	genome.wustl.edu	37	chr5	154395762	154395762	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctcaggatgtggttcaactCaaagaaaaaaaggaatctcg	10	7	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:154395762C>T	ENST00000435029.4	+	1	2503	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	781	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGTTCAACTCAAAGAAAAAA	0.443																																																	0													52	54	53					5																	154395762		2202	4300	6502	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2343C>T	5.37:g.154395762C>T				Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L781	ENST00000435029.4	37	c.2343	CCDS47324.1	5																																																																																			KIF4B	-	NULL		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	C			154395762	1	no_errors	ENST00000435029	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154395762	C	T	154395762	2	4	185	1	0	0	0	0	0	0	0	1	8324	813	29	1		1	KIF4B	5	154395762	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	204886	154395762	26519498	538	34813										
FAM71B	153745	genome.wustl.edu	37	chr5	156589943	156589943	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcacctgccttgcggtgatGagaacttttcctactgggat	10	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:156589943G>C	ENST00000302938.4	-	2	1428	c.1333C>G	c.(1333-1335)Cat>Gat	p.H445D		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	445						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCGGTGATGAGAACTTTTC	0.502																																																	0													168	160	163					5																	156589943		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1333C>G	5.37:g.156589943G>C	ENSP00000305596:p.His445Asp		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.H445D	ENST00000302938.4	37	c.1333	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646193	0.47258	.	.	ENSG00000170613	ENST00000302938	T	0.18810	2.19	4.64	3.68	0.42216	.	0.730266	0.11847	N	0.523663	T	0.27134	0.0665	L	0.58101	1.795	0.19775	N	0.999952	P	0.49961	0.93	P	0.47299	0.543	T	0.08953	-1.0697	10	0.54805	T	0.06	-0.0986	9.3031	0.37858	0.0:0.0:0.786:0.214	.	445	Q8TC56	FA71B_HUMAN	D	445	ENSP00000305596:H445D	ENSP00000305596:H445D	H	-	1	0	FAM71B	156522521	0.900000	0.30661	0.374000	0.26016	0.372000	0.29890	2.651000	0.46674	2.500000	0.84329	0.655000	0.94253	CAT	FAM71B	-	NULL		0.502	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	G	NM_130899		156589943	-1	no_errors	ENST00000302938	ensembl	human	known	70_37	missense	SNP	0.320	C	C	156589943	G	C	156589943	3	2	185	1	0	0	0	0	1	0	0	0	5626	1290	45	1	488	1	FAM71B	5	156589943	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2194181	156589943	24325317	539	34814										
NPM1	4869	genome.wustl.edu	37	chr5	170827185	170827185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgatgattttgatgatgagGaagctgaagaaaaagcgcca	12	4	0	7			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:170827185G>A	ENST00000296930.5	+	7	854	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	NPM1_ENST00000351986.6_Missense_Mutation_p.E185K|NPM1_ENST00000517671.1_Missense_Mutation_p.E185K|NPM1_ENST00000393820.2_Missense_Mutation_p.E185K	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	185	Asp/Glu-rich (highly acidic).|Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			tgatgatgaggaagctgaaga	0.348			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																			Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	0													102	97	99					5																	170827185		2203	4300	6503	SO:0001583	missense	4869			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.553G>A	5.37:g.170827185G>A	ENSP00000296930:p.Glu185Lys		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core	p.E185K	ENST00000296930.5	37	c.553	CCDS4376.1	5	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525313	0.27299	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986;ENST00000393820	T;T;T;T	0.70164	2.26;2.26;-0.46;2.26	3.63	3.63	0.41609	.	0.189426	0.44097	U	0.000496	T	0.69869	0.3159	M	0.62088	1.915	0.33321	D	0.567294	B;B;P	0.40834	0.373;0.329;0.73	B;P;P	0.49477	0.133;0.458;0.612	T	0.77498	-0.2565	10	0.42905	T	0.14	.	11.1303	0.48343	0.0:0.0:1.0:0.0	.	185;185;185	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	K	185	ENSP00000428755:E185K;ENSP00000296930:E185K;ENSP00000341168:E185K;ENSP00000377408:E185K	ENSP00000296930:E185K	E	+	1	0	NPM1	170759790	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.363000	0.52321	2.334000	0.79466	0.655000	0.94253	GAA	NPM1	-	pfam_Nucleoplasmin		0.348	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	HGNC	protein_coding	OTTHUMT00000252858.2	G	NM_002520		170827185	1	no_errors	ENST00000296930	ensembl	human	known	70_37	missense	SNP	1.000	A	A	170827185	G	A	170827185	3	1	185	1	0	0	0	0	1	0	0	0	10611	1175	41	1	579	1	NPM1	5	170827185	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	14237242	170827185	10088075	540	34815										
C5orf41	153222	genome.wustl.edu	37	chr5	172518062	172518062	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcccgctttgccttttaaaGaaacccaggaactattacta	5	12	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:172518062G>C	ENST00000296953.2	+	4	1199	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	CREBRF_ENST00000540014.1_Missense_Mutation_p.E294Q|CREBRF_ENST00000520420.1_Missense_Mutation_p.E294Q|CREBRF_ENST00000522692.1_Missense_Mutation_p.E294Q	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	294					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCTTTTAAAGAAACCCAGGA	0.507																																																	0													56	57	57					5																	172518062		2203	4300	6503	SO:0001583	missense	153222			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.880G>C	5.37:g.172518062G>C	ENSP00000296953:p.Glu294Gln		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.E294Q	ENST00000296953.2	37	c.880	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811309	0.70797	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T	0.47869	0.83;0.83	5.42	5.42	0.78866	.	0.047925	0.85682	D	0.000000	T	0.57725	0.2073	L	0.32530	0.975	0.51482	D	0.999921	D;D	0.71674	0.994;0.998	P;D	0.63703	0.87;0.917	T	0.54437	-0.8294	10	0.37606	T	0.19	.	19.2171	0.93782	0.0:0.0:1.0:0.0	.	294;294	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	Q	294	ENSP00000296953:E294Q;ENSP00000440075:E294Q	ENSP00000296953:E294Q	E	+	1	0	C5orf41	172450668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.694000	0.68272	2.544000	0.85801	0.655000	0.94253	GAA	CREBRF	-	NULL		0.507	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	G	NM_153607		172518062	1	no_errors	ENST00000540014	ensembl	human	known	70_37	missense	SNP	1.000	C	C	172518062	G	C	172518062	3	2	185	1	0	0	0	0	1	0	0	0	2305	943	33	1	890	1	C5orf41	5	172518062	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1690877	172518062	8397198	541	34816										
C5orf41	153222	genome.wustl.edu	37	chr5	172518290	172518290	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgttgatgatgaggaccatGatgaaggattcggcagtgag	15	4	0	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:172518290G>A	ENST00000296953.2	+	4	1427	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CREBRF_ENST00000540014.1_Missense_Mutation_p.D370N|CREBRF_ENST00000520420.1_Missense_Mutation_p.D370N|CREBRF_ENST00000522692.1_Missense_Mutation_p.D370N	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	370	Glu-rich.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										tgaggaccatgatgaaggatt	0.433																																																	0													50	36	41					5																	172518290		2203	4300	6503	SO:0001583	missense	153222			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1108G>A	5.37:g.172518290G>A	ENSP00000296953:p.Asp370Asn		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.D370N	ENST00000296953.2	37	c.1108	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211923	0.79240	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.69561	-0.41;1.88;1.88;-0.41	5.52	5.52	0.82312	.	0.047679	0.85682	D	0.000000	T	0.74405	0.3712	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.99;0.996	T	0.77319	-0.2632	10	0.72032	D	0.01	.	19.0476	0.93028	0.0:0.0:1.0:0.0	.	370;370	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	N	370	ENSP00000431107:D370N;ENSP00000296953:D370N;ENSP00000440075:D370N;ENSP00000428290:D370N	ENSP00000296953:D370N	D	+	1	0	C5orf41	172450896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.771000	0.91751	2.601000	0.87937	0.655000	0.94253	GAT	CREBRF	-	NULL		0.433	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	G	NM_153607		172518290	1	no_errors	ENST00000540014	ensembl	human	known	70_37	missense	SNP	1.000	A	A	172518290	G	A	172518290	3	1	185	1	0	0	0	0	1	0	0	0	2305	1290	45	1	1118	1	C5orf41	5	172518290	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	228	172518290	8396970	542	34817										
DRD1	1812	genome.wustl.edu	37	chr5	174870004	174870004	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccaggagcgtggacaggatGagcagcgacaggaaacaggc	16	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:174870004G>C	ENST00000393752.2	-	2	1091	c.99C>G	c.(97-99)ctC>ctG	p.L33L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	33					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGGACAGGATGAGCAGCGACA	0.572																																																	0													108	102	104					5																	174870004		2203	4300	6503	SO:0001819	synonymous_variant	1812			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.99C>G	5.37:g.174870004G>C			B2RA44|Q4QRJ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_1A_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt	p.L33	ENST00000393752.2	37	c.99	CCDS4393.1	5																																																																																			DRD1	-	prints_GPCR_Rhodpsn		0.572	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2	G	NM_000794		174870004	-1	no_errors	ENST00000329144	ensembl	human	known	70_37	silent	SNP	0.994	C	C	174870004	G	C	174870004	2	2	185	1	0	0	0	0	0	0	0	1	4766	1277	45	1		1	DRD1	5	174870004	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2351714	174870004	6045256	543	34818										
C5orf25	375484	genome.wustl.edu	37	chr5	175763857	175763857	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctctactttctgaataattCtacgtcactgctcaagtgtc	5	12	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:175763857C>T	ENST00000443967.1	+	10	2656	c.2249C>T	c.(2248-2250)tCt>tTt	p.S750F	SIMC1_ENST00000430704.2_Missense_Mutation_p.S335F|SIMC1_ENST00000341199.6_Missense_Mutation_p.S335F|SIMC1_ENST00000332772.4_Missense_Mutation_p.S211F			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	750							SUMO polymer binding (GO:0032184)										CTGAATAATTCTACGTCACTG	0.502																																																	0													66	67	67					5																	175763857		2203	4300	6503	SO:0001583	missense	375484			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2249C>T	5.37:g.175763857C>T	ENSP00000406571:p.Ser750Phe		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.S750F	ENST00000443967.1	37	c.2249		5	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886562	0.51908	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	4.86	4.86	0.63082	.	0.169946	0.40385	N	0.001106	T	0.76652	0.4017	L	0.52573	1.65	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.80764	0.952;0.994;0.974	T	0.76575	-0.2909	10	0.48119	T	0.1	-17.1096	14.8467	0.70264	0.0:1.0:0.0:0.0	.	211;335;750	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	F	335;335;750;211	ENSP00000342075:S335F;ENSP00000409287:S335F;ENSP00000406571:S750F;ENSP00000331311:S211F	ENSP00000331311:S211F	S	+	2	0	C5orf25	175696463	0.993000	0.37304	0.989000	0.46669	0.303000	0.27691	2.456000	0.44997	2.529000	0.85273	0.467000	0.42956	TCT	SIMC1	-	NULL		0.502	SIMC1-001	KNOWN	basic	protein_coding	SIMC1	HGNC	protein_coding	OTTHUMT00000253155.2	C	NM_198567		175763857	1	no_errors	ENST00000443967	ensembl	human	known	70_37	missense	SNP	0.990	T	T	175763857	C	T	175763857	3	4	185	1	0	0	0	0	1	0	0	0	2293	913	32	1	1030	1	C5orf25	5	175763857	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	893853	175763857	5151403	544	34819										
CDHR2	54825	genome.wustl.edu	37	chr5	175998219	175998219	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttctcacttgcaggtgcaGagggagatgctggtgattgt	14	7	1	3	rs6886860	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:175998219G>C	ENST00000510636.1	+	6	595	c.321G>C	c.(319-321)caG>caC	p.Q107H	CDHR2_ENST00000506348.1_Missense_Mutation_p.Q107H|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q107H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Q -> H (in dbSNP:rs6886860).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGCAGGTGCAGAGGGAGATGC	0.488																																																	0								G	HIS/GLN,HIS/GLN	0,4406		0,0,2203	76	65	69		321,321	1.4	0	5	dbSNP_116	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDHR2	NM_001171976.1,NM_017675.4	24,24	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	107/1311,107/1311	175998219	1,13005	2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.321G>C	5.37:g.175998219G>C	ENSP00000424565:p.Gln107His		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q107H	ENST00000510636.1	37	c.321	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	8.886	0.952747	0.18431	0.0	1.16E-4	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60920	0.15;0.15;0.15	4.21	1.36	0.22044	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.35422	0.0931	N	0.19112	0.55	0.09310	N	1	P	0.42337	0.776	B	0.37780	0.258	T	0.11941	-1.0567	9	0.34782	T	0.22	-0.1856	4.6582	0.12628	0.285:0.1734:0.5415:0.0	rs6886860;rs52811604;rs6886860	107	Q9BYE9	CDHR2_HUMAN	H	107	ENSP00000424565:Q107H;ENSP00000261944:Q107H;ENSP00000421078:Q107H	ENSP00000261944:Q107H	Q	+	3	2	CDHR2	175930825	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.088000	0.11198	0.143000	0.18926	0.555000	0.69702	CAG	CDHR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.488	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	G	NM_017675		175998219	1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	0.000	C	C	175998219	G	C	175998219	3	2	185	1	0	0	0	0	1	0	0	0	3124	933	33	1	339	1	CDHR2	5	175998219	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	234362	175998219	4917041	545	34820										
ZNF354C	30832	genome.wustl.edu	37	chr5	178506224	178506224	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcccttctttctcatcagaGaattcatactggagagaaac	6	10	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:178506224G>C	ENST00000315475.6	+	5	1097	c.791G>C	c.(790-792)aGa>aCa	p.R264T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTCATCAGAGAATTCATACT	0.388																																																	0													58	62	60					5																	178506224		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.791G>C	5.37:g.178506224G>C	ENSP00000324064:p.Arg264Thr		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R264T	ENST00000315475.6	37	c.791	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494134	0.64186	.	.	ENSG00000177932	ENST00000315475	T	0.02421	4.3	3.7	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	M	0.78916	2.43	0.33945	D	0.643681	D	0.76494	0.999	D	0.67382	0.951	T	0.09596	-1.0667	9	0.62326	D	0.03	-19.838	10.4665	0.44611	0.0:0.0:0.8043:0.1957	.	264	Q86Y25	Z354C_HUMAN	T	264	ENSP00000324064:R264T	ENSP00000324064:R264T	R	+	2	0	ZNF354C	178438830	0.009000	0.17119	0.998000	0.56505	0.993000	0.82548	0.851000	0.27751	0.870000	0.35726	0.591000	0.81541	AGA	ZNF354C	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178506224	1	no_errors	ENST00000315475	ensembl	human	known	70_37	missense	SNP	1.000	C	C	178506224	G	C	178506224	3	2	185	1	0	0	0	0	1	0	0	0	17896	942	33	1	805	1	ZNF354C	5	178506224	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2508005	178506224	2409036	546	34821										
MAPK9	5601	genome.wustl.edu	37	chr5	179668150	179668150	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgataacagatctctggcttGacttgctagggtgacaacaa	10	8	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:179668150G>C	ENST00000452135.2	-	9	1175	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E	MAPK9_ENST00000343111.6_Missense_Mutation_p.Q293E|MAPK9_ENST00000393360.3_Missense_Mutation_p.Q293E|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.Q208E|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000455781.1_Missense_Mutation_p.Q293E			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTGGCTTGACTTGCTAGG	0.353																																																	0													151	155	154					5																	179668150		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.877C>G	5.37:g.179668150G>C	ENSP00000394560:p.Gln293Glu		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.Q293E	ENST00000452135.2	37	c.877	CCDS4453.1	5	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273897	0.40194	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	T;T;T;T;T	0.81247	0.08;0.08;0.08;0.08;-1.47	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	N	0.03071	-0.42	0.80722	D	1	B;B;B;P	0.35542	0.026;0.008;0.014;0.508	B;B;B;B	0.31442	0.038;0.022;0.022;0.13	T	0.63453	-0.6634	10	0.09590	T	0.72	-26.0052	19.254	0.93938	0.0:0.0:1.0:0.0	.	293;293;293;293	P45984-4;P45984-3;P45984-2;P45984	.;.;.;MK09_HUMAN	E	293;293;293;293;208	ENSP00000394560:Q293E;ENSP00000377028:Q293E;ENSP00000389338:Q293E;ENSP00000345524:Q293E;ENSP00000321410:Q208E	ENSP00000345524:Q293E	Q	-	1	0	MAPK9	179600756	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	9.670000	0.98625	2.541000	0.85698	0.557000	0.71058	CAA	MAPK9	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK		0.353	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3	G			179668150	-1	no_errors	ENST00000452135	ensembl	human	known	70_37	missense	SNP	1.000	C	C	179668150	G	C	179668150	3	2	185	1	0	0	0	0	1	0	0	0	9310	1299	45	1	418	1	MAPK9	5	179668150	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1161926	179668150	1247110	547	34822										
TRIM7	81786	genome.wustl.edu	37	chr5	180625192	180625192	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accatccctacctttctcctCtttctccagctctccccgaa	2	20	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr5:180625192C>G	ENST00000274773.7	-	6	1076	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	TRIM7_ENST00000393315.1_Missense_Mutation_p.E131Q|TRIM7_ENST00000361809.3_Missense_Mutation_p.E131Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000422067.2_Missense_Mutation_p.E131Q|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.E157Q|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	339	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCTTTCTCCTCTTTCTCCAGC	0.527																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													261	201	221					5																	180625192		2203	4300	6503	SO:0001583	missense	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1015G>C	5.37:g.180625192C>G	ENSP00000274773:p.Glu339Gln		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.E339Q	ENST00000274773.7	37	c.1015	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	C	7.333	0.619337	0.14129	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.57107	0.74;0.45;0.45;0.42;0.45	5.22	4.35	0.52113	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.879128	0.09627	N	0.776686	T	0.49098	0.1537	N	0.13043	0.29	0.30491	N	0.77136	D;B	0.61697	0.99;0.004	P;B	0.60068	0.868;0.004	T	0.26677	-1.0096	10	0.11794	T	0.64	.	10.2411	0.43312	0.0:0.9075:0.0:0.0925	.	339;157	Q9C029;Q9C029-4	TRIM7_HUMAN;.	Q	339;131;131;157;131	ENSP00000274773:E339Q;ENSP00000376991:E131Q;ENSP00000355059:E131Q;ENSP00000376994:E157Q;ENSP00000391458:E131Q	ENSP00000274773:E339Q	E	-	1	0	TRIM7	180557798	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	4.305000	0.59110	1.326000	0.45319	-0.291000	0.09656	GAG	TRIM7	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.527	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	C	NM_203296		180625192	-1	no_errors	ENST00000274773	ensembl	human	known	70_37	missense	SNP	1.000	G	G	180625192	C	G	180625192	3	3	185	1	0	0	0	0	1	0	0	0	16574	922	32	1	528	1	TRIM7	5	180625192	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	957042	180625192	290068	548	34823										
FOXC1	2296	genome.wustl.edu	37	chr6	1611076	1611076	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atccgccacaacctctcgctCaacgagtgcttcgtcaaggt	8	15	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:1611076C>G	ENST00000380874.2	+	1	396	c.396C>G	c.(394-396)ctC>ctG	p.L132L		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	132					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		ACCTCTCGCTCAACGAGTGCT	0.597																																					Pancreas(133;719 1821 3197 26645 35015)												0													87	97	94					6																	1611076		2203	4300	6503	SO:0001819	synonymous_variant	2296			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.396C>G	6.37:g.1611076C>G			Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L132	ENST00000380874.2	37	c.396	CCDS4473.1	6																																																																																			FOXC1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.597	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1	C			1611076	1	no_errors	ENST00000380874	ensembl	human	known	70_37	silent	SNP	1.000	G	G	1611076	C	G	1611076	2	3	185	1	0	0	0	0	0	0	0	1	6012	813	29	1		1	FOXC1	6	1611076	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		1611076	169503991	549	34824										
RIPK1	8737	genome.wustl.edu	37	chr6	3106006	3106006	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgagaattttcagaatacaGagggaaaaggcactgcttat	10	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:3106006G>A	ENST00000259808.4	+	9	1595	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	RIPK1_ENST00000541791.1_Missense_Mutation_p.E387K|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.E433K			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	433	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCAGAATACAGAGGGAAAAGG	0.498																																																	0													56	57	57					6																	3106006		2203	4300	6503	SO:0001583	missense	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1297G>A	6.37:g.3106006G>A	ENSP00000259808:p.Glu433Lys		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E433K	ENST00000259808.4	37	c.1297	CCDS4482.1	6	.	.	.	.	.	.	.	.	.	.	G	9.787	1.176908	0.21787	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.76186	-1.0;-0.46;-1.0	5.6	3.79	0.43588	.	0.954775	0.08798	N	0.892193	T	0.42449	0.1203	N	0.22421	0.69	0.09310	N	1	B;B	0.26400	0.148;0.109	B;B	0.21917	0.037;0.021	T	0.41161	-0.9524	10	0.45353	T	0.12	-9.8497	10.3621	0.44001	0.0748:0.1356:0.7896:0.0	.	387;433	Q13546-2;Q13546	.;RIPK1_HUMAN	K	433;387;433	ENSP00000259808:E433K;ENSP00000442294:E387K;ENSP00000369773:E433K	ENSP00000259808:E433K	E	+	1	0	RIPK1	3051005	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	0.924000	0.28777	0.697000	0.31718	0.655000	0.94253	GAG	RIPK1	-	NULL		0.498	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	G	NM_003804		3106006	1	no_errors	ENST00000259808	ensembl	human	known	70_37	missense	SNP	0.006	A	A	3106006	G	A	3106006	3	1	185	1	0	0	0	0	1	0	0	0	13410	943	33	1	1327	1	RIPK1	6	3106006	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1494930	3106006	168009061	550	34825										
PRPF4B	8899	genome.wustl.edu	37	chr6	4058961	4058961	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtttttgttttgttttgtaGatgattcgaaaaggtgtgtt	11	1	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:4058961G>A	ENST00000337659.6	+	14	2833		c.e14-1		PRPF4B_ENST00000538861.1_Splice_Site|PRPF4B_ENST00000494674.1_Splice_Site	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B						mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTGTTTTGTAGATGATTCGAA	0.284																																																	0													46	45	45					6																	4058961		2203	4298	6501	SO:0001630	splice_region_variant	8899			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2734-1G>A	6.37:g.4058961G>A			A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Splice_Site	SNP	-	e14-1	ENST00000337659.6	37	c.2734-1	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422195	0.83559	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF4B	4003960	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.230000	0.95299	2.797000	0.96272	0.655000	0.94253	.	PRPF4B	-	-		0.284	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	G		Intron	4058961	1	no_errors	ENST00000337659	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	4058961	G	A	4058961	5	1	185	1	0	0	0	0	0	0	1	0	12600	956	33	1	2787	1	PRPF4B	6	4058961	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	952955	4058961	167056106	551	34826										
RREB1	6239	genome.wustl.edu	37	chr6	7229752	7229752	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggcagacatccagcaaattCtgaagatggcagcctcggct	11	11	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:7229752C>T	ENST00000349384.6	+	10	1734	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	RREB1_ENST00000379933.3_Silent_p.L474L|RREB1_ENST00000334984.6_Silent_p.L474L|RREB1_ENST00000379938.2_Silent_p.L474L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	474					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGCAAATTCTGAAGATGGC	0.607																																																	0													88	100	96					6																	7229752		2203	4300	6503	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1420C>T	6.37:g.7229752C>T			A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L474	ENST00000349384.6	37	c.1420	CCDS34336.1	6																																																																																			RREB1	-	NULL		0.607	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	C			7229752	1	no_errors	ENST00000379938	ensembl	human	known	70_37	silent	SNP	1.000	T	T	7229752	C	T	7229752	2	4	185	1	0	0	0	0	0	0	0	1	13709	912	32	1		1	RREB1	6	7229752	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3170791	7229752	163885315	552	34827										
DSP	1832	genome.wustl.edu	37	chr6	7580249	7580249	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagctgaagaaaacgcccttCagcaaaaggcctgtggctct	11	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:7580249C>G	ENST00000379802.3	+	23	4167	c.3826C>G	c.(3826-3828)Cag>Gag	p.Q1276E	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1276	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAACGCCCTTCAGCAAAAGGC	0.512																																																	0													67	68	68					6																	7580249		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3826C>G	6.37:g.7580249C>G	ENSP00000369129:p.Gln1276Glu		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q1276E	ENST00000379802.3	37	c.3826	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201669	0.58234	.	.	ENSG00000096696	ENST00000379802	D	0.93019	-3.15	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000039	D	0.92857	0.7728	L	0.55990	1.75	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	D	0.90979	0.4826	10	0.07175	T	0.84	.	18.2596	0.90030	0.0:1.0:0.0:0.0	.	1276	P15924	DESP_HUMAN	E	1276	ENSP00000369129:Q1276E	ENSP00000369129:Q1276E	Q	+	1	0	DSP	7525248	0.997000	0.39634	0.980000	0.43619	0.947000	0.59692	3.576000	0.53878	2.411000	0.81874	0.557000	0.71058	CAG	DSP	-	NULL		0.512	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7580249	1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	0.999	G	G	7580249	C	G	7580249	3	3	185	1	0	0	0	0	1	0	0	0	4791	827	29	1	3916	1	DSP	6	7580249	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	350497	7580249	163534818	553	34828										
NHLRC1	378884	genome.wustl.edu	37	chr6	18121697	18121697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tatagaatgagatgctgtgtCcagcacaagaagagaattct	10	6	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:18121697C>T	ENST00000340650.3	-	1	1154	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	381					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GATGCTGTGTCCAGCACAAGA	0.478																																																	0													55	58	57					6																	18121697		2203	4300	6503	SO:0001583	missense	378884			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"epilepsy, progressive myoclonus type 2B"	608072	"NHL repeat containing 1"			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.1141G>A	6.37:g.18121697C>T	ENSP00000345464:p.Asp381Asn		Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING	p.D381N	ENST00000340650.3	37	c.1141	CCDS4542.1	6	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983154	0.93044	.	.	ENSG00000187566	ENST00000340650	D	0.91407	-2.84	5.76	5.76	0.90799	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	M	0.83223	2.63	0.50813	D	0.99989	D	0.89917	1.0	D	0.91635	0.999	D	0.95155	0.8276	10	0.62326	D	0.03	-26.6451	19.9857	0.97347	0.0:1.0:0.0:0.0	.	381	Q6VVB1	NHLC1_HUMAN	N	381	ENSP00000345464:D381N	ENSP00000345464:D381N	D	-	1	0	NHLRC1	18229676	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.064000	0.76721	2.706000	0.92434	0.655000	0.94253	GAC	NHLRC1	-	pfscan_NHL_repeat_subgr		0.478	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC1	HGNC	protein_coding	OTTHUMT00000039958.1	C			18121697	-1	no_errors	ENST00000340650	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18121697	C	T	18121697	3	4	185	1	0	0	0	0	1	0	0	0	10429	855	30	1	50	1	NHLRC1	6	18121697	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10541448	18121697	152993370	554	34829										
CDKAL1	54901	genome.wustl.edu	37	chr6	20649602	20649602	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgaagaccactttagaaactCaattaagtaagtagaaattg	7	5	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:20649602C>T	ENST00000378610.1	+	3	375	c.365C>T	c.(364-366)tCa>tTa	p.S122L	CDKAL1_ENST00000274695.4_Missense_Mutation_p.S122L|CDKAL1_ENST00000378624.4_Missense_Mutation_p.S52L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	122	MTTase N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00780}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTTAGAAACTCAATTAAGTAA	0.279																																																	0													57	61	60					6																	20649602		2203	4300	6503	SO:0001583	missense	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.365C>T	6.37:g.20649602C>T	ENSP00000367873:p.Ser122Leu		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.S122L	ENST00000378610.1	37	c.365	CCDS4546.1	6	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570365	0.28003	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.42900	0.96;0.97;0.96	5.9	5.9	0.94986	Methylthiotransferase, N-terminal (2);	0.139643	0.49305	D	0.000142	T	0.07863	0.0197	N	0.00666	-1.275	0.42929	D	0.994311	B;B	0.18310	0.027;0.003	B;B	0.15052	0.012;0.01	T	0.23119	-1.0197	10	0.20519	T	0.43	-14.8935	18.0434	0.89325	0.0:1.0:0.0:0.0	.	52;122	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	L	122;52;122	ENSP00000274695:S122L;ENSP00000367889:S52L;ENSP00000367873:S122L	ENSP00000274695:S122L	S	+	2	0	CDKAL1	20757581	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.025000	0.70864	2.793000	0.96121	0.591000	0.81541	TCA	CDKAL1	-	pfam_Methylthiotransferase_N,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase		0.279	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	HGNC	protein_coding	OTTHUMT00000039986.1	C	NM_017774		20649602	1	no_errors	ENST00000274695	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20649602	C	T	20649602	3	4	185	1	0	0	0	0	1	0	0	0	3157	838	29	1	375	1	CDKAL1	6	20649602	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2527905	20649602	150465465	555	34830										
LRRC16A	55604	genome.wustl.edu	37	chr6	25551207	25551207	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgatgaaaaaagcccacattCgacaagacttgattcatgcc	7	10	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:25551207C>T	ENST00000329474.6	+	27	2766	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	800					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCCCACATTCGACAAGACTT	0.428																																																	0													179	173	175					6																	25551207		1965	4159	6124	SO:0001587	stop_gained	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2398C>T	6.37:g.25551207C>T	ENSP00000331983:p.Arg800*		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Nonsense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R800*	ENST00000329474.6	37	c.2398	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	C	44	10.533727	0.99423	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5484	0.68050	0.1468:0.8531:0.0:0.0	.	.	.	.	X	800	.	ENSP00000331983:R800X	R	+	1	2	LRRC16A	25659186	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	4.275000	0.58927	2.423000	0.82170	0.650000	0.86243	CGA	LRRC16A	-	NULL		0.428	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	C	NM_017640		25551207	1	no_errors	ENST00000329474	ensembl	human	novel	70_37	nonsense	SNP	1.000	T	T	25551207	C	T	25551207	4	4	185	1	0	0	0	0	0	1	0	0	8994	876	31	1	2504	1	LRRC16A	6	25551207	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4901605	25551207	145563860	556	34831										
HIST1H3F	8968	genome.wustl.edu	37	chr6	26250758	26250758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggctggcgcgcttttgcgagCcgccttagtggccagctgct	15	13	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:26250758C>T	ENST00000446824.2	-	1	77	c.76G>A	c.(76-78)Gct>Act	p.A26T	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	26					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						CTTTTGCGAGCCGCCTTAGTG	0.607																																																	0													41	48	46					6																	26250758		2203	4300	6503	SO:0001583	missense	8968			Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"Histones / Replication-dependent"	4773	protein-coding gene	gene with protein product		602816	"H3 histone family, member I", "histone 1, H3f"	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.76G>A	6.37:g.26250758C>T	ENSP00000444823:p.Ala26Thr		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.A26T	ENST00000446824.2	37	c.76	CCDS4600.1	6	.	.	.	.	.	.	.	.	.	.	.	12.95	2.092099	0.36952	.	.	ENSG00000256316	ENST00000446824	T	0.48201	0.82	4.73	4.73	0.59995	.	.	.	.	.	T	0.57403	0.2051	.	.	.	0.44110	D	0.996881	.	.	.	.	.	.	T	0.59836	-0.7379	6	0.54805	T	0.06	.	17.5462	0.87863	0.0:1.0:0.0:0.0	.	.	.	.	T	26	ENSP00000444823:A26T	ENSP00000444823:A26T	A	-	1	0	HIST1H3F	26358737	1.000000	0.71417	0.989000	0.46669	0.037000	0.13140	7.632000	0.83247	2.555000	0.86185	0.491000	0.48974	GCT	HIST1H3F	-	superfamily_Histone-fold,prints_Histone_H3		0.607	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3F	HGNC	protein_coding	OTTHUMT00000040098.1	C	NM_021018		26250758	-1	no_errors	ENST00000446824	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26250758	C	T	26250758	3	4	185	1	0	0	0	0	1	0	0	0	7180	739	26	4	338	4	HIST1H3F	6	26250758	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	699551	26250758	144864309	557	34832										
HIST1H3G	8355	genome.wustl.edu	37	chr6	26271487	26271487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agagccacggtgccgggacgGtagcgatgaggtttcttcac	15	10	2	2	rs377432393		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:26271487G>A	ENST00000305910.3	-	1	125	c.126C>T	c.(124-126)taC>taT	p.Y42Y	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	42					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						TGCCGGGACGGTAGCGATGAG	0.642																																																	0													48	52	51					6																	26271487		2203	4300	6503	SO:0001819	synonymous_variant	8355			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.126C>T	6.37:g.26271487G>A			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.Y42	ENST00000305910.3	37	c.126	CCDS4602.1	6																																																																																			HIST1H3G	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.642	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3G	HGNC	protein_coding	OTTHUMT00000040099.2	G	NM_003534		26271487	-1	no_errors	ENST00000305910	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26271487	G	A	26271487	2	1	185	1	0	0	0	0	0	0	0	1	7181	1256	44	4		4	HIST1H3G	6	26271487	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	20729	26271487	144843580	558	34833										
BTN3A1	11119	genome.wustl.edu	37	chr6	26411346	26411346	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcattgtagggggagagaGacattcagcctataatggtg	13	5	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:26411346G>C	ENST00000289361.6	+	8	1342	c.974G>C	c.(973-975)aGa>aCa	p.R325T	BTN3A1_ENST00000425234.2_Missense_Mutation_p.R325T|BTN3A1_ENST00000476549.2_Missense_Mutation_p.R325T|BTN3A1_ENST00000414912.2_Missense_Mutation_p.R273T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	325	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGGGAGAGAGACATTCAGCC	0.418																																																	0													176	173	174					6																	26411346		2203	4300	6503	SO:0001583	missense	11119			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.974G>C	6.37:g.26411346G>C	ENSP00000289361:p.Arg325Thr		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.R325T	ENST00000289361.6	37	c.974	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	0.942	-0.709145	0.03230	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.46819	3.96;1.22;3.91;0.86	1.01	-2.01	0.07410	B30.2/SPRY domain (1);	.	.	.	.	T	0.11922	0.0290	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.32467	0.22;0.372;0.241;0.049	B;B;B;B	0.32677	0.039;0.15;0.08;0.026	T	0.19095	-1.0316	9	0.72032	D	0.01	.	2.4591	0.04537	0.5601:0.0:0.2041:0.2358	.	273;325;325;325	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	T	325;325;325;273	ENSP00000420010:R325T;ENSP00000289361:R325T;ENSP00000396684:R325T;ENSP00000406667:R273T	ENSP00000289361:R325T	R	+	2	0	BTN3A1	26519325	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.818000	0.04467	-1.668000	0.01471	-1.133000	0.01973	AGA	BTN3A1	-	pfscan_B30.2/SPRY		0.418	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	G			26411346	1	no_errors	ENST00000289361	ensembl	human	known	70_37	missense	SNP	0.000	C	C	26411346	G	C	26411346	3	2	185	1	0	0	0	0	1	0	0	0	1565	942	33	1	1000	1	BTN3A1	6	26411346	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	139859	26411346	144703721	559	34834										
HIST1H2AH	85235	genome.wustl.edu	37	chr6	27115271	27115271	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctgctgcctaagaagactGagagccaccataaggccaaa	10	11	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27115271G>A	ENST00000377459.1	+	1	411	c.364G>A	c.(364-366)Gag>Aag	p.E122K	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank|HIST1H2BK_ENST00000356950.1_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAGAAGACTGAGAGCCACCA	0.522																																																	0													59	62	61					6																	27115271		2203	4300	6503	SO:0001583	missense	85235			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.364G>A	6.37:g.27115271G>A	ENSP00000366679:p.Glu122Lys			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E122K	ENST00000377459.1	37	c.364	CCDS4622.1	6	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198379	0.38806	.	.	ENSG00000184825	ENST00000377459	D	0.90261	-2.64	4.06	4.06	0.47325	Histone-fold (2);Histone H2A (1);	0.000000	0.41500	D	0.000879	T	0.73892	0.3645	N	0.12527	0.23	0.38976	D	0.958849	B	0.19935	0.04	B	0.19148	0.024	T	0.72320	-0.4329	10	0.39692	T	0.17	.	14.5447	0.68020	0.0:0.0:1.0:0.0	.	122	Q96KK5	H2A1H_HUMAN	K	122	ENSP00000366679:E122K	ENSP00000366679:E122K	E	+	1	0	HIST1H2AH	27223250	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	8.660000	0.91121	2.201000	0.70794	0.655000	0.94253	GAG	HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A		0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	G	NM_080596		27115271	1	no_errors	ENST00000377459	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27115271	G	A	27115271	3	1	185	1	0	0	0	0	1	0	0	0	7154	1291	45	1	366	1	HIST1H2AH	6	27115271	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	703925	27115271	143999796	560	34835										
ZNF184	7738	genome.wustl.edu	37	chr6	27420303	27420303	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgttccataaagtggcctctCtggctaaaggcttttccaca	8	11	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27420303C>G	ENST00000211936.6	-	6	1319	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q345H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTGGCCTCTCTGGCTAAAGG	0.423																																																	0													53	54	54					6																	27420303		2203	4300	6503	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1035G>C	6.37:g.27420303C>G	ENSP00000211936:p.Gln345His		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q345H	ENST00000211936.6	37	c.1035	CCDS4624.1	6	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267970	0.23136	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.05513	3.43;3.43	4.69	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000397	T	0.01156	0.0038	N	0.20304	0.555	0.35233	D	0.777127	B	0.27286	0.174	B	0.15484	0.013	T	0.49753	-0.8906	10	0.31617	T	0.26	.	4.8175	0.13374	0.1701:0.6616:0.0:0.1683	.	345	Q99676	ZN184_HUMAN	H	345;345;345;33	ENSP00000211936:Q345H;ENSP00000366636:Q345H	ENSP00000211936:Q345H	Q	-	3	2	ZNF184	27528282	0.002000	0.14202	1.000000	0.80357	0.950000	0.60333	0.601000	0.24119	0.714000	0.32081	-1.028000	0.02416	CAG	ZNF184	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	C	NM_007149		27420303	-1	no_errors	ENST00000211936	ensembl	human	known	70_37	missense	SNP	0.903	G	G	27420303	C	G	27420303	3	3	185	1	0	0	0	0	1	0	0	0	17781	912	32	1	1224	1	ZNF184	6	27420303	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	305032	27420303	143694764	561	34836										
HIST1H3H	8357	genome.wustl.edu	37	chr6	27778143	27778143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggcgctgcaagaggcatgcGaggcctacctggtggggctc	17	11	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27778143G>A	ENST00000369163.2	+	1	302	c.292G>A	c.(292-294)Gag>Aag	p.E98K	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						AGAGGCATGCGAGGCCTACCT	0.602																																																	0													73	65	67					6																	27778143		2203	4300	6503	SO:0001583	missense	8357			Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"Histones / Replication-dependent"	4775	protein-coding gene	gene with protein product		602818	"H3 histone family, member K", "histone 1, H3h"	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.292G>A	6.37:g.27778143G>A	ENSP00000358160:p.Glu98Lys		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E98K	ENST00000369163.2	37	c.292	CCDS4627.1	6	.	.	.	.	.	.	.	.	.	.	.	19.12	3.765987	0.69878	.	.	ENSG00000203813	ENST00000369163	T	0.77489	-1.1	4.33	4.33	0.51752	.	.	.	.	.	D	0.83317	0.5228	.	.	.	0.46011	D	0.998813	.	.	.	.	.	.	D	0.86016	0.1504	6	0.87932	D	0	.	16.683	0.85297	0.0:0.0:1.0:0.0	.	.	.	.	K	98	ENSP00000358160:E98K	ENSP00000358160:E98K	E	+	1	0	HIST1H3H	27886122	1.000000	0.71417	0.977000	0.42913	0.430000	0.31655	7.520000	0.81821	2.329000	0.79093	0.655000	0.94253	GAG	HIST1H3H	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.602	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3H	HGNC	protein_coding	OTTHUMT00000040151.1	G	NM_003536		27778143	1	no_errors	ENST00000369163	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27778143	G	A	27778143	3	1	185	1	0	0	0	0	1	0	0	0	7182	1059	37	1	294	1	HIST1H3H	6	27778143	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	357840	27778143	143336924	562	34837										
HIST1H2AJ	8331	genome.wustl.edu	37	chr6	27782446	27782446	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cactcggcctacgggaaactGaagcccggcccgagaagagc	13	14	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27782446G>A	ENST00000333151.3	-	1	161	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	HIST1H2BM_ENST00000359465.4_5'Flank	NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	25						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						ACGGGAAACTGAAGCCCGGCC	0.627																																																	0													26	34	32					6																	27782446		2195	4290	6485	SO:0001587	stop_gained	8331			Z83736	CCDS4628.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000182611	ENSG00000276368		"Histones / Replication-dependent"	4727	protein-coding gene	gene with protein product		602791	"H2A histone family, member E", "histone 1, H2aj"	H2AFE		9439656, 12408966	Standard	NM_021066		Approved	H2A/E	uc003njn.1	Q99878	OTTHUMG00000014486	ENST00000333151.3:c.73C>T	6.37:g.27782446G>A	ENSP00000328484:p.Gln25*		A2RUU6|Q5JXQ5	Nonsense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.Q25*	ENST00000333151.3	37	c.73	CCDS4628.1	6	.	.	.	.	.	.	.	.	.	.	.	25.4	4.638337	0.87760	.	.	ENSG00000182611	ENST00000333151	.	.	.	4.06	4.06	0.47325	.	0.000000	0.31268	U	0.007948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.4632	0.84070	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000328484:Q25X	Q	-	1	0	HIST1H2AJ	27890425	1.000000	0.71417	0.962000	0.40283	0.584000	0.36387	5.196000	0.65136	2.531000	0.85337	0.655000	0.94253	CAG	HIST1H2AJ	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.627	HIST1H2AJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AJ	HGNC	protein_coding	OTTHUMT00000040154.1	G	NM_021066		27782446	-1	no_errors	ENST00000333151	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	27782446	G	A	27782446	4	1	185	1	0	0	0	0	0	1	0	0	7156	1299	45	1	317	1	HIST1H2AJ	6	27782446	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4303	27782446	143332621	563	34838										
HIST1H2AK	8330	genome.wustl.edu	37	chr6	27805978	27805978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgccaggtacaccggcgctCcggcaccgacccgctcagcg	12	20	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:27805978C>A	ENST00000330180.2	-	1	139	c.140G>T	c.(139-141)gGa>gTa	p.G47V	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	47						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CACCGGCGCTCCGGCACCGAC	0.642																																																	0													41	45	44					6																	27805978		2203	4299	6502	SO:0001583	missense	8330			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"Histones / Replication-dependent"	4726	protein-coding gene	gene with protein product		602788	"H2A histone family, member D", "histone 1, H2ak"	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.140G>T	6.37:g.27805978C>A	ENSP00000330307:p.Gly47Val		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.G47V	ENST00000330180.2	37	c.140	CCDS4632.1	6	.	.	.	.	.	.	.	.	.	.	.	14.48	2.549188	0.45383	.	.	ENSG00000184348	ENST00000330180	T	0.44083	0.93	4.42	3.54	0.40534	.	0.000000	0.31709	U	0.007184	T	0.45236	0.1332	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.49051	-0.8979	7	0.87932	D	0	.	11.5811	0.50891	0.0:0.91:0.0:0.09	.	.	.	.	V	47	ENSP00000330307:G47V	ENSP00000330307:G47V	G	-	2	0	HIST1H2AK	27913957	0.998000	0.40836	0.977000	0.42913	0.197000	0.23852	4.543000	0.60684	2.369000	0.80426	0.655000	0.94253	GGA	HIST1H2AK	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.642	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AK	HGNC	protein_coding	OTTHUMT00000043814.1	C	NM_003510		27805978	-1	no_errors	ENST00000330180	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27805978	C	A	27805978	3	1	185	1	0	0	0	0	1	0	0	0	7157	855	30	3	256	3	HIST1H2AK	6	27805978	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	23532	27805978	143309089	564	34839										
HLA-A	3105	genome.wustl.edu	37	chr6	29911302	29911302	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatacctggagaacgggaagGagacgctgcagcgcacgggt	17	9	0	2	rs41546018		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:29911302G>T	ENST00000396634.1	+	5	942	c.601G>T	c.(601-603)Gag>Tag	p.E201*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E201*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E201*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E201*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	201	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GAACGGGAAGGAGACGCTGCA	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.601G>T	6.37:g.29911302G>T	ENSP00000379873:p.Glu201*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E201*	ENST00000396634.1	37	c.601	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	37	6.618998	0.97709	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.	.	.	3.54	3.54	0.40534	.	1.724340	0.04698	U	0.415309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	13.0189	0.58775	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000365998:E201X	E	+	1	0	HLA-A	30019281	0.951000	0.32395	0.529000	0.27951	0.371000	0.29859	1.475000	0.35409	1.987000	0.57996	0.485000	0.47835	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29911302	1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.975	T	T	29911302	G	T	29911302	4	4	185	1	0	0	0	0	0	1	0	0	7215	1175	41	3	611	3	HLA-A	6	29911302	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2105324	29911302	141203765	565	34840										
TRIM31	11074	genome.wustl.edu	37	chr6	30080457	30080457	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacatgatgtttccccaatCtgagtgatgcatttgaggca	9	10	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30080457C>G	ENST00000376734.3	-	2	251	c.126G>C	c.(124-126)caG>caC	p.Q42H	TRIM31_ENST00000485864.1_5'Flank|TRIM31_ENST00000540829.1_Missense_Mutation_p.Q42H|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	42					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTTCCCCAATCTGAGTGATGC	0.483																																																	0													113	116	115					6																	30080457		1511	2709	4220	SO:0001583	missense	11074			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.126G>C	6.37:g.30080457C>G	ENSP00000365924:p.Gln42His		A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata	p.Q42H	ENST00000376734.3	37	c.126	CCDS34374.1	6	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718523	0.30503	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	D;D	0.84442	-1.85;-1.85	3.98	-0.331	0.12679	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	2.138560	0.02980	N	0.145556	T	0.81226	0.4778	L	0.51914	1.62	0.09310	N	1	D	0.65815	0.995	D	0.67231	0.95	T	0.64390	-0.6419	10	0.54805	T	0.06	.	2.1986	0.03917	0.3097:0.2879:0.3037:0.0987	.	42	Q9BZY9	TRI31_HUMAN	H	42	ENSP00000365924:Q42H;ENSP00000444311:Q42H	ENSP00000365918:Q42H	Q	-	3	2	TRIM31	30188436	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.301000	0.01137	0.081000	0.16988	0.549000	0.68633	CAG	TRIM31	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.483	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM31	HGNC	protein_coding	OTTHUMT00000076081.2	C			30080457	-1	no_errors	ENST00000376734	ensembl	human	known	70_37	missense	SNP	0.000	G	G	30080457	C	G	30080457	3	3	185	1	0	0	0	0	1	0	0	0	16536	912	32	1	1183	1	TRIM31	6	30080457	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	169155	30080457	141034610	566	34841										
PPP1R10	5514	genome.wustl.edu	37	chr6	30573980	30573980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accaccactgtgctggcattCttcttcacaggcaccaagga	8	14	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30573980C>G	ENST00000376511.2	-	9	1227	c.675G>C	c.(673-675)aaG>aaC	p.K225N		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	225	Interaction with TOX4. {ECO:0000250}.			K -> E (in Ref. 1; CAA73697). {ECO:0000305}.	protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCTGGCATTCTTCTTCACAG	0.527																																																	0													125	109	115					6																	30573980		1511	2709	4220	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.675G>C	6.37:g.30573980C>G	ENSP00000365694:p.Lys225Asn		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.K225N	ENST00000376511.2	37	c.675	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274489	0.59649	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.56776	0.44	5.28	5.28	0.74379	.	0.098485	0.64402	D	0.000002	T	0.47783	0.1464	N	0.24115	0.695	0.58432	D	0.999995	D	0.71674	0.998	D	0.78314	0.991	T	0.53940	-0.8367	10	0.54805	T	0.06	-16.2406	11.2198	0.48848	0.0:0.9149:0.0:0.0851	.	225	Q96QC0	PP1RA_HUMAN	N	225	ENSP00000365694:K225N	ENSP00000365694:K225N	K	-	3	2	PPP1R10	30681959	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.174000	0.58256	2.465000	0.83290	0.591000	0.81541	AAG	PPP1R10	-	NULL		0.527	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30573980	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30573980	C	G	30573980	3	3	185	1	0	0	0	0	1	0	0	0	12379	912	32	1	2195	1	PPP1R10	6	30573980	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	493523	30573980	140541087	567	34842										
MRPS18B	28973	genome.wustl.edu	37	chr6	30593386	30593386	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccccaccctggtctcaggtGacccctggtacccatggtac	9	18	1	1	rs533494503		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30593386G>C	ENST00000259873.4	+	7	746	c.589G>C	c.(589-591)Gac>Cac	p.D197H	MRPS18B_ENST00000472229.1_3'UTR|ATAT1_ENST00000318999.7_5'Flank|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000376483.4_5'Flank|ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000330083.5_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000376478.2_5'Flank|ATAT1_ENST00000329992.8_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	197					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GGTCTCAGGTGACCCCTGGTA	0.587																																																	0													122	139	133					6																	30593386		1510	2709	4219	SO:0001583	missense	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.589G>C	6.37:g.30593386G>C	ENSP00000259873:p.Asp197His		A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.D197H	ENST00000259873.4	37	c.589	CCDS4682.1	6	.	.	.	.	.	.	.	.	.	.	G	8.763	0.923991	0.18056	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.48836	0.8	5.43	1.45	0.22620	.	0.523002	0.20080	N	0.099678	T	0.28167	0.0695	L	0.47716	1.5	0.09310	N	1	P;P	0.40875	0.731;0.612	P;B	0.49752	0.621;0.417	T	0.11717	-1.0576	10	0.49607	T	0.09	.	4.2497	0.10689	0.3679:0.1632:0.4689:0.0	.	154;197	Q5STN0;Q9Y676	.;RT18B_HUMAN	H	197;154	ENSP00000259873:D197H	ENSP00000259873:D197H	D	+	1	0	MRPS18B	30701365	0.736000	0.28164	0.012000	0.15200	0.001000	0.01503	2.026000	0.41069	0.426000	0.26116	-0.880000	0.02959	GAC	MRPS18B	-	NULL		0.587	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18B	HGNC	protein_coding	OTTHUMT00000076584.2	G			30593386	1	no_errors	ENST00000259873	ensembl	human	known	70_37	missense	SNP	0.000	C	C	30593386	G	C	30593386	3	2	185	1	0	0	0	0	1	0	0	0	9852	1290	45	1	615	1	MRPS18B	6	30593386	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	19406	30593386	140521681	568	34843										
C6orf134	28973	genome.wustl.edu	37	chr6	30594728	30594728	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acggtgctggaccagcacctGaggcccccagcccgccgacc	12	19	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30594728G>C	ENST00000259873.4	+	0	1532				ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000318999.7_Silent_p.L22L|ATAT1_ENST00000376483.4_Silent_p.L22L|ATAT1_ENST00000319027.5_Silent_p.L22L|ATAT1_ENST00000330083.5_5'UTR|ATAT1_ENST00000376485.4_Silent_p.L22L|ATAT1_ENST00000376478.2_Silent_p.L22L|ATAT1_ENST00000329992.8_Silent_p.L22L	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B						translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						ACCAGCACCTGAGGCCCCCAG	0.677																																																	0													38	21	27					6																	30594728		1508	2702	4210	SO:0001628	intergenic_variant	79969			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268		6.37:g.30594728G>C			A6NDQ0|Q659G4|Q9BS27	Silent	SNP	pfam_Touch_recpt_neuron_Mec-17,superfamily_Acyl_CoA_acyltransferase	p.L22	ENST00000259873.4	37	c.66	CCDS4682.1	6																																																																																			ATAT1	-	NULL		0.677	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAT1	HGNC	protein_coding	OTTHUMT00000076584.2	G			30594728	1	no_errors	ENST00000376485	ensembl	human	known	70_37	silent	SNP	1.000	C	C	30594728	G	C	30594728	1	2	185	0	1	0	0	0	0	0	0	0	2335	1277	45	1		1	C6orf134	6	30594728	IGR	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1342	30594728	140520339	569	34844										
C6orf136	221545	genome.wustl.edu	37	chr6	30618839	30618839	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatgtggaattcatcaatgaGatcctcaacatacgtaccaa	7	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:30618839G>C	ENST00000376473.5	+	3	702	c.543G>C	c.(541-543)gaG>gaC	p.E181D	C6orf136_ENST00000528347.2_Missense_Mutation_p.E38D|C6orf136_ENST00000293604.6_Missense_Mutation_p.E362D|C6orf136_ENST00000376471.4_Missense_Mutation_p.E47D|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	181						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCATCAATGAGATCCTCAACA	0.488																																																	0													121	110	113					6																	30618839		2203	4300	6503	SO:0001583	missense	221545			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.543G>C	6.37:g.30618839G>C	ENSP00000365656:p.Glu181Asp		A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	pfam_DUF2358	p.E362D	ENST00000376473.5	37	c.1086	CCDS43443.1	6	.	.	.	.	.	.	.	.	.	.	G	9.075	0.997984	0.19043	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699	.	.	.	5.66	4.79	0.61399	.	0.104471	0.64402	D	0.000004	T	0.09512	0.0234	N	0.16478	0.41	0.29959	N	0.819555	P;B;P	0.43542	0.81;0.016;0.529	B;B;B	0.39068	0.241;0.014;0.289	T	0.05582	-1.0876	9	0.38643	T	0.18	-11.4294	8.4666	0.32960	0.1736:0.0:0.8264:0.0	.	47;362;181	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	D	362;181;47;299;38;3	.	ENSP00000293604:E362D	E	+	3	2	C6orf136	30726818	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.398000	0.34554	1.393000	0.46605	0.561000	0.74099	GAG	C6orf136	-	pfam_DUF2358		0.488	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf136	HGNC	protein_coding	OTTHUMT00000076457.4	G	NM_145029		30618839	1	no_errors	ENST00000293604	ensembl	human	known	70_37	missense	SNP	1.000	C	C	30618839	G	C	30618839	3	2	185	1	0	0	0	0	1	0	0	0	2336	933	33	1	1096	1	C6orf136	6	30618839	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	24111	30618839	140496228	570	34845										
HLA-B	3106	genome.wustl.edu	37	chr6	31323127	31323127	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaggggcttcggcagcccctCatgctgtacatggcatgtgt	14	11	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:31323127C>A	ENST00000412585.2	-	4	890	c.862G>T	c.(862-864)Gag>Tag	p.E288*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	288	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E288*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCAGCCCCTCATGCTGTACA	0.577									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								1	Substitution - Nonsense(1)	endometrium(1)											66	61	63					6																	31323127		2203	4300	6503	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.862G>T	6.37:g.31323127C>A	ENSP00000399168:p.Glu288*		Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E288*	ENST00000412585.2	37	c.862	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	11.97	1.798406	0.31777	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	1.29	0.21616	.	0.421858	0.17204	U	0.182989	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.6137	0.08070	0.0:0.5455:0.2111:0.2434	.	.	.	.	X	288;167;167	.	ENSP00000399168:E288X	E	-	1	0	HLA-B	31431106	0.027000	0.19231	0.618000	0.29105	0.058000	0.15608	0.432000	0.21461	0.188000	0.20168	-0.502000	0.04539	GAG	HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.577	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514		31323127	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	0.933	A	A	31323127	C	A	31323127	4	1	185	1	0	0	0	0	0	1	0	0	7216	835	29	3	242	3	HLA-B	6	31323127	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	704288	31323127	139791940	571	34846										
HLA-B	3106	genome.wustl.edu	37	chr6	31323160	31323160	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcatgtgtatctctgctcttCtccagaaggcaccaccacag	8	14	3	1	rs41542113		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:31323160C>A	ENST00000412585.2	-	4	857	c.829G>T	c.(829-831)Gaa>Taa	p.E277*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	277	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTCTGCTCTTCTCCAGAAGGC	0.567									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													86	72	77					6																	31323160		2203	4300	6503	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.829G>T	6.37:g.31323160C>A	ENSP00000399168:p.Glu277*		Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E277*	ENST00000412585.2	37	c.829	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	14.85	2.658499	0.47467	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	-0.183	0.13284	.	0.353908	0.19562	U	0.111317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	6.8421	0.23969	0.0:0.5591:0.3306:0.1104	.	.	.	.	X	277;156;156	.	ENSP00000399168:E277X	E	-	1	0	HLA-B	31431139	0.017000	0.18338	0.996000	0.52242	0.488000	0.33401	0.486000	0.22340	0.166000	0.19597	0.442000	0.29010	GAA	HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.567	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514		31323160	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	0.991	A	A	31323160	C	A	31323160	4	1	185	1	0	0	0	0	0	1	0	0	7216	922	32	3	275	3	HLA-B	6	31323160	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	33	31323160	139791907	572	34847										
LTA	4049	genome.wustl.edu	37	chr6	31541299	31541299	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccttccatgtgcctctcctCagctcccagaagatggtgta	8	15	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:31541299C>G	ENST00000454783.1	+	4	705	c.447C>G	c.(445-447)ctC>ctG	p.L149L	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Silent_p.L149L	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	149					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TGCCTCTCCTCAGCTCCCAGA	0.612																																																	0													175	165	169					6																	31541299		2203	4300	6503	SO:0001819	synonymous_variant	4049			X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"Tumor necrosis factor (ligand) superfamily"	6709	protein-coding gene	gene with protein product	"TNF superfamily member 1"	153440	"lymphotoxin alpha (TNF superfamily, member 1)"	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.447C>G	6.37:g.31541299C>G			Q8N4C3|Q9UKS8	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c	p.L149	ENST00000454783.1	37	c.447	CCDS4701.1	6																																																																																			LTA	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c		0.612	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA	HGNC	protein_coding	OTTHUMT00000259097.1	C			31541299	1	no_errors	ENST00000418386	ensembl	human	known	70_37	silent	SNP	1.000	G	G	31541299	C	G	31541299	2	3	185	1	0	0	0	0	0	0	0	1	9091	813	29	1		1	LTA	6	31541299	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	218139	31541299	139573768	573	34848										
BAT4	7918	genome.wustl.edu	37	chr6	31631984	31631984	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggatctcccttgtccatgtCttcctgatgctccttctgcc	8	15	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:31631984C>T	ENST00000375906.1	-	3	956	c.272G>A	c.(271-273)aGa>aAa	p.R91K	CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375895.2_Missense_Mutation_p.R91K|CSNK2B_ENST00000375865.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.R91K|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375900.4_Missense_Mutation_p.R91K|GPANK1_ENST00000375896.4_Missense_Mutation_p.R91K|CSNK2B_ENST00000375866.2_5'Flank|CSNK2B_ENST00000375885.4_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	91							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TTGTCCATGTCTTCCTGATGC	0.517																																																	0													121	109	113					6																	31631984		2203	4300	6503	SO:0001583	missense	7918				CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.272G>A	6.37:g.31631984C>T	ENSP00000365071:p.Arg91Lys		A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom	p.R91K	ENST00000375906.1	37	c.272	CCDS4711.1	6	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.164188	0.01673	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842;ENST00000458083;ENST00000445768;ENST00000432291	T;T;T;T;T;T;T	0.29142	3.15;3.15;3.15;3.15;3.15;1.58;1.58	3.81	1.97	0.26223	.	1.001520	0.08051	N	0.996715	T	0.03390	0.0098	N	0.08118	0	0.09310	N	0.999999	B	0.17038	0.02	B	0.17433	0.018	T	0.42766	-0.9432	10	0.05959	T	0.93	-7.6407	5.3839	0.16208	0.1969:0.6921:0.0:0.111	.	91	O95872	GPAN1_HUMAN	K	91	ENSP00000365071:R91K;ENSP00000365060:R91K;ENSP00000365057:R91K;ENSP00000365059:R91K;ENSP00000365065:R91K;ENSP00000395307:R91K;ENSP00000409349:R91K	ENSP00000365057:R91K	R	-	2	0	GPANK1	31739963	0.271000	0.24162	0.226000	0.23910	0.175000	0.22909	0.675000	0.25232	0.349000	0.23975	0.561000	0.74099	AGA	GPANK1	-	NULL		0.517	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPANK1	HGNC	protein_coding	OTTHUMT00000144445.2	C	NM_033177		31631984	-1	no_errors	ENST00000375893	ensembl	human	known	70_37	missense	SNP	0.505	T	T	31631984	C	T	31631984	3	4	185	1	0	0	0	0	1	0	0	0	1324	913	32	1	806	1	BAT4	6	31631984	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	90685	31631984	139483083	574	34849										
PRRT1	80863	genome.wustl.edu	37	chr6	32117007	32117007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaggggcgtttttagggatCccagtagttctcgtggtgct	14	9	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32117007C>T	ENST00000211413.5	-	4	1037	c.913G>A	c.(913-915)Gat>Aat	p.D305N	PRRT1_ENST00000375152.2_Missense_Mutation_p.D224N|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375150.2_Missense_Mutation_p.D224N	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	305					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TTTTAGGGATCCCAGTAGTTC	0.632																																																	0													32	42	38					6																	32117007		1508	2707	4215	SO:0001583	missense	80863			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"Proline-rich transmembrane proteins"	13943	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 7"		"chromosome 6 open reading frame 31"	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.913G>A	6.37:g.32117007C>T	ENSP00000211413:p.Asp305Asn		A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.D305N	ENST00000211413.5	37	c.913	CCDS4739.1	6	.	.	.	.	.	.	.	.	.	.	c	23.1	4.374739	0.82573	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.91945	-2.81;-2.94;-2.94	4.46	4.46	0.54185	.	.	.	.	.	D	0.82999	0.5159	N	0.08118	0	0.44677	D	0.99766	P;P	0.50528	0.895;0.936	B;P	0.50934	0.354;0.654	D	0.84522	0.0628	9	0.32370	T	0.25	-1.3215	14.6746	0.68969	0.0:1.0:0.0:0.0	.	305;224	Q99946;Q99946-2	PRRT1_HUMAN;.	N	305;224;224	ENSP00000211413:D305N;ENSP00000364292:D224N;ENSP00000364294:D224N	ENSP00000211413:D305N	D	-	1	0	PRRT1	32224985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.537000	0.73847	2.332000	0.79248	0.645000	0.84053	GAT	PRRT1	-	NULL		0.632	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	HGNC	protein_coding	OTTHUMT00000076255.2	C	NM_030651		32117007	-1	no_errors	ENST00000211413	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32117007	C	T	32117007	3	4	185	1	0	0	0	0	1	0	0	0	12636	855	30	1	11	1	PRRT1	6	32117007	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	485023	32117007	138998060	575	34850										
NOTCH4	4855	genome.wustl.edu	37	chr6	32163526	32163526	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctcctgctcctactcccgaGaggctccggcaatgagaata	9	15	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32163526G>C	ENST00000375023.3	-	30	5838	c.5700C>G	c.(5698-5700)ctC>ctG	p.L1900L	GPSM3_ENST00000487761.1_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1900					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTACTCCCGAGAGGCTCCGGC	0.677																																																	0													20	25	23					6																	32163526		1506	2701	4207	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5700C>G	6.37:g.32163526G>C			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.L1900	ENST00000375023.3	37	c.5700	CCDS34420.1	6																																																																																			NOTCH4	-	pirsf_Notch		0.677	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	G			32163526	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	silent	SNP	0.000	C	C	32163526	G	C	32163526	2	2	185	1	0	0	0	0	0	0	0	1	10575	929	33	1		1	NOTCH4	6	32163526	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	46519	32163526	138951541	576	34851										
C6orf10	10665	genome.wustl.edu	37	chr6	32261210	32261210	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taccttcaactcactcttctCtacctgggcttcctgtcctt	4	16	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32261210C>G	ENST00000447241.2	-	23	1412	c.1240G>C	c.(1240-1242)Gag>Cag	p.E414Q	C6orf10_ENST00000527965.1_Missense_Mutation_p.E398Q|C6orf10_ENST00000375015.4_Missense_Mutation_p.E413Q|C6orf10_ENST00000533191.1_Missense_Mutation_p.E412Q|C6orf10_ENST00000442822.2_Missense_Mutation_p.E405Q|C6orf10_ENST00000375007.4_Missense_Mutation_p.E412Q	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	414						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TCACTCTTCTCTACCTGGGCT	0.473																																																	0													135	155	148					6																	32261210		1508	2708	4216	SO:0001583	missense	10665			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"testis specific basic protein"					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1240G>C	6.37:g.32261210C>G	ENSP00000415517:p.Glu414Gln		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	NULL	p.E414Q	ENST00000447241.2	37	c.1240	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089112	0.36855	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.04049	3.72;3.76;3.75;3.76;3.76;3.75	3.38	-3.03	0.05429	.	.	.	.	.	T	0.04815	0.0130	M	0.64404	1.975	0.09310	N	1	D;D	0.67145	0.982;0.996	P;D	0.68192	0.767;0.956	T	0.22138	-1.0225	9	0.32370	T	0.25	-4.5583	5.2153	0.15338	0.0:0.4302:0.1759:0.394	.	414;405	Q5SRN2;C9J9T8	CF010_HUMAN;.	Q	405;414;413;412;398;412;411;411	ENSP00000411164:E405Q;ENSP00000415517:E414Q;ENSP00000364155:E413Q;ENSP00000431199:E412Q;ENSP00000435103:E398Q;ENSP00000364146:E412Q	ENSP00000303292:E411Q	E	-	1	0	C6orf10	32369188	0.000000	0.05858	0.058000	0.19502	0.053000	0.15095	-1.430000	0.02434	-0.451000	0.07097	-0.474000	0.04947	GAG	C6orf10	-	NULL		0.473	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	HGNC	protein_coding	OTTHUMT00000076178.4	C	NM_006781		32261210	-1	no_errors	ENST00000447241	ensembl	human	known	70_37	missense	SNP	0.039	G	G	32261210	C	G	32261210	3	3	185	1	0	0	0	0	1	0	0	0	2322	922	32	1	455	1	C6orf10	6	32261210	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	97684	32261210	138853857	577	34852										
HLA-DQA1	3117	genome.wustl.edu	37	chr6	32609161	32609161	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccagtacacccatgaatttGatggagatgagcagttctac	10	9	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32609161G>C	ENST00000343139.5	+	2	259	c.157G>C	c.(157-159)Gat>Cat	p.D53H	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.D53H|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.D53H	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	53	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CCATGAATTTGATGGAGATGA	0.522																																																	0													127	106	113					6																	32609161		2202	4285	6487	SO:0001583	missense	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.157G>C	6.37:g.32609161G>C	ENSP00000339398:p.Asp53His		O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.D53H	ENST00000343139.5	37	c.157	CCDS4752.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.13|12.13	1.845218|1.845218	0.32606|0.32606	.|.	.|.	ENSG00000196735|ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949|ENST00000486548	T;T;T;T|.	0.03004|.	4.08;4.08;4.08;4.08|.	3.84|3.84	3.84|3.84	0.44239|0.44239	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.78240|0.78240	0.4252|0.4252	H|H	0.96365|0.96365	3.81|3.81	0.37296|0.37296	D|D	0.908465|0.908465	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.82651|0.82651	-0.0352|-0.0352	10|5	0.87932|.	D|.	0|.	.|.	7.4539|7.4539	0.27255|0.27255	0.1172:0.0:0.8828:0.0|0.1172:0.0:0.8828:0.0	.|.	59;53|.	Q59F33;G4XQK2|.	.;.|.	H|F	53|25	ENSP00000339398:D53H;ENSP00000378767:D53H;ENSP00000437302:D53H;ENSP00000364087:D53H|.	ENSP00000339398:D53H|.	D|L	+|+	1|3	0|2	HLA-DQA1|HLA-DQA1	32717139|32717139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.073000|0.073000	0.16967|0.16967	3.780000|3.780000	0.55386|0.55386	2.151000|2.151000	0.67156|0.67156	0.462000|0.462000	0.41574|0.41574	GAT|TTG	HLA-DQA1	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N		0.522	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DQA1	HGNC	protein_coding	OTTHUMT00000076176.3	G	NM_002122		32609161	1	no_errors	ENST00000343139	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32609161	G	C	32609161	3	2	185	1	0	0	0	0	1	0	0	0	7224	1290	45	1	163	1	HLA-DQA1	6	32609161	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	347951	32609161	138505906	578	34853										
TAP1	6890	genome.wustl.edu	37	chr6	32814865	32814865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgtaactggctgtttgcatCcagggcactggtggcatcat	12	10	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32814865C>T	ENST00000354258.4	-	10	2361	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	PSMB8_ENST00000374881.2_5'Flank|PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.D473N|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	734	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CTGTTTGCATCCAGGGCACTG	0.498																																																	0													150	150	150					6																	32814865		1511	2709	4220	SO:0001583	missense	6890				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.2200G>A	6.37:g.32814865C>T	ENSP00000346206:p.Asp734Asn		Q16149|Q96CP4	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.D734N	ENST00000354258.4	37	c.2200	CCDS4758.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.313391	0.95655	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.95756	-3.8;-3.8	5.43	5.43	0.79202	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.49916	D	0.000127	D	0.98501	0.9500	H	0.96365	3.81	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99659	1.0993	10	0.87932	D	0	-8.5464	16.7475	0.85476	0.0:1.0:0.0:0.0	.	734	Q03518	TAP1_HUMAN	N	734;473	ENSP00000346206:D734N;ENSP00000401919:D473N	ENSP00000346206:D734N	D	-	1	0	TAP1	32922843	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.852000	0.75430	2.552000	0.86080	0.643000	0.83706	GAT	TAP1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2		0.498	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	C	NM_000593		32814865	-1	no_errors	ENST00000354258	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32814865	C	T	32814865	3	4	185	1	0	0	0	0	1	0	0	0	15580	855	30	1	234	1	TAP1	6	32814865	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	205704	32814865	138300202	579	34854										
TAP1	6890	genome.wustl.edu	37	chr6	32818836	32818836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccccaagagacataggcctCgcaccaggtaccacagaaat	8	14	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32818836C>T	ENST00000354258.4	-	4	1276	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.R111Q	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	372	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	ACATAGGCCTCGCACCAGGTA	0.532																																																	0													165	128	141					6																	32818836		1511	2709	4220	SO:0001583	missense	6890				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1115G>A	6.37:g.32818836C>T	ENSP00000346206:p.Arg372Gln		Q16149|Q96CP4	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.R372Q	ENST00000354258.4	37	c.1115	CCDS4758.1	6	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750551	0.89753	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.89270	-2.49;-2.49	4.51	4.51	0.55191	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.38492	N	0.001666	D	0.91650	0.7361	M	0.64260	1.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91020	0.4856	10	0.42905	T	0.14	-14.0418	14.7846	0.69793	0.0:1.0:0.0:0.0	.	372	Q03518	TAP1_HUMAN	Q	372;111	ENSP00000346206:R372Q;ENSP00000401919:R111Q	ENSP00000346206:R372Q	R	-	2	0	TAP1	32926814	0.991000	0.36638	0.847000	0.33407	0.802000	0.45316	4.768000	0.62293	2.347000	0.79759	0.551000	0.68910	CGA	TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	C	NM_000593		32818836	-1	no_errors	ENST00000354258	ensembl	human	known	70_37	missense	SNP	0.985	T	T	32818836	C	T	32818836	3	4	185	1	0	0	0	0	1	0	0	0	15580	884	31	1	1343	1	TAP1	6	32818836	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3971	32818836	138296231	580	34855										
TAP1	6890	genome.wustl.edu	37	chr6	32818868	32818868	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacagaaataagctcagattCtcactcagagaatcactcag	6	11	5	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32818868C>T	ENST00000354258.4	-	4	1244	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.E100E	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	361	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGCTCAGATTCTCACTCAGAG	0.532																																																	0													145	107	121					6																	32818868		1511	2709	4220	SO:0001819	synonymous_variant	6890				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1083G>A	6.37:g.32818868C>T			Q16149|Q96CP4	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.E361	ENST00000354258.4	37	c.1083	CCDS4758.1	6																																																																																			TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	C	NM_000593		32818868	-1	no_errors	ENST00000354258	ensembl	human	known	70_37	silent	SNP	0.000	T	T	32818868	C	T	32818868	2	4	185	1	0	0	0	0	0	0	0	1	15580	912	32	1		1	TAP1	6	32818868	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	32	32818868	138296199	581	34856										
HLA-DMA	3108	genome.wustl.edu	37	chr6	32917053	32917053	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctccagatgacataccacctGagcaaggcttccggaagtag	10	12	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:32917053G>C	ENST00000374843.4	-	4	861	c.776C>G	c.(775-777)tCa>tGa	p.S259*	HLA-DMA_ENST00000395303.3_Nonsense_Mutation_p.S225*|HLA-DMA_ENST00000395305.3_Nonsense_Mutation_p.S164*|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	259					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						CATACCACCTGAGCAAGGCTT	0.567																																																	0													82	81	81					6																	32917053		2203	4300	6503	SO:0001587	stop_gained	3108				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.776C>G	6.37:g.32917053G>C	ENSP00000363976:p.Ser259*		Q29639|Q29640	Nonsense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.S259*	ENST00000374843.4	37	c.776	CCDS4761.1	6	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025782	0.54683	.	.	ENSG00000204257	ENST00000395305;ENST00000395303;ENST00000374843;ENST00000456800	.	.	.	5.0	1.12	0.20585	.	4.259390	0.00481	N	0.000136	.	.	.	.	.	.	0.25391	N	0.988524	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.7695	0.08636	0.0876:0.3063:0.4482:0.1579	.	.	.	.	X	164;225;259;289	.	ENSP00000363976:S259X	S	-	2	0	HLA-DMA	33025031	0.204000	0.23447	0.202000	0.23494	0.793000	0.44817	0.585000	0.23879	0.088000	0.17205	0.551000	0.68910	TCA	HLA-DMA	-	NULL		0.567	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMA	HGNC	protein_coding	OTTHUMT00000076325.2	G	NM_006120		32917053	-1	no_errors	ENST00000374843	ensembl	human	known	70_37	nonsense	SNP	0.235	C	C	32917053	G	C	32917053	4	2	185	1	0	0	0	0	0	1	0	0	7218	1294	45	1	17	1	HLA-DMA	6	32917053	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	98185	32917053	138198014	582	34857										
RGL2	5863	genome.wustl.edu	37	chr6	33260080	33260080	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatacattagccgaggctggGatagtcagctctgaaggttc	12	8	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:33260080G>C	ENST00000497454.1	-	18	2628	c.2133C>G	c.(2131-2133)atC>atG	p.I711M	WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	711	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCGAGGCTGGGATAGTCAGCT	0.567																																																	0													71	73	72					6																	33260080		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2133C>G	6.37:g.33260080G>C	ENSP00000420211:p.Ile711Met		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.I711M	ENST00000497454.1	37	c.2133	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027808	0.54790	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.18657	2.2	5.64	2.33	0.28932	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.04153	-1.0973	10	0.87932	D	0	.	7.9	0.29729	0.3101:0.0:0.6899:0.0	.	711	O15211	RGL2_HUMAN	M	711;575	ENSP00000420211:I711M	ENSP00000400083:I575M	I	-	3	3	RGL2	33368058	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.270000	0.43355	0.683000	0.31428	0.643000	0.83706	ATC	RGL2	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.567	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	G			33260080	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	1.000	C	C	33260080	G	C	33260080	3	2	185	1	0	0	0	0	1	0	0	0	13307	1164	41	1	204	1	RGL2	6	33260080	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	343027	33260080	137854987	583	34858										
LEMD2	221496	genome.wustl.edu	37	chr6	33746118	33746118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcagattccaggcagaccaCcttgtccacagtcgtcacca	9	15	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:33746118C>T	ENST00000293760.5	-	6	1076	c.1057G>A	c.(1057-1059)Gtg>Atg	p.V353M	LEMD2_ENST00000508327.1_Missense_Mutation_p.V51M|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	353					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AGGCAGACCACCTTGTCCACA	0.567																																																	0													128	120	123					6																	33746118		2203	4300	6503	SO:0001583	missense	221496				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1057G>A	6.37:g.33746118C>T	ENSP00000293760:p.Val353Met		B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	p.V353M	ENST00000293760.5	37	c.1057	CCDS4785.1	6	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850170	0.71719	.	.	ENSG00000161904	ENST00000293760;ENST00000508327;ENST00000513701	.	.	.	5.65	2.87	0.33458	Inner nuclear membrane protein MAN1 (1);	0.115120	0.38548	N	0.001657	T	0.56292	0.1975	M	0.69823	2.125	0.36939	D	0.892272	P;P	0.51147	0.942;0.713	P;P	0.60012	0.867;0.538	T	0.59343	-0.7472	9	0.54805	T	0.06	-9.1324	7.2928	0.26376	0.1296:0.6791:0.1246:0.0667	.	353;314	Q8NC56;A8MS91	LEMD2_HUMAN;.	M	353;51;51	.	ENSP00000293760:V353M	V	-	1	0	LEMD2	33854096	0.992000	0.36948	0.987000	0.45799	0.995000	0.86356	2.717000	0.47227	0.299000	0.22661	0.655000	0.94253	GTG	LEMD2	-	pfam_Inner-Nucl-membr_MAN1		0.567	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD2	HGNC	protein_coding	OTTHUMT00000040209.3	C	XM_166338		33746118	-1	no_errors	ENST00000293760	ensembl	human	known	70_37	missense	SNP	0.998	T	T	33746118	C	T	33746118	3	4	185	1	0	0	0	0	1	0	0	0	8740	507	18	4	470	4	LEMD2	6	33746118	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	486038	33746118	137368949	584	34859										
TULP1	7287	genome.wustl.edu	37	chr6	35473852	35473852	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgccctttttgtcccgggtCagccggcagcgcaccgtgcg	13	15	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:35473852C>T	ENST00000229771.6	-	10	1006	c.927G>A	c.(925-927)ctG>ctA	p.L309L	TULP1_ENST00000322263.4_Silent_p.L256L	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	309					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTCCCGGGTCAGCCGGCAGC	0.672																																					GBM(55;1027 1091 11115 23439)												0													58	65	62					6																	35473852		2203	4300	6503	SO:0001819	synonymous_variant	7287			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.927G>A	6.37:g.35473852C>T			O43536|Q5TGM5|Q8N571	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	p.L309	ENST00000229771.6	37	c.927	CCDS4807.1	6																																																																																			TULP1	-	pfam_Tubby_C,superfamily_Tubby_C-like		0.672	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP1	HGNC	protein_coding	OTTHUMT00000040307.2	C			35473852	-1	no_errors	ENST00000229771	ensembl	human	known	70_37	silent	SNP	0.924	T	T	35473852	C	T	35473852	2	4	185	1	0	0	0	0	0	0	0	1	16804	813	29	1		1	TULP1	6	35473852	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1727734	35473852	135641215	585	34860										
BRPF3	27154	genome.wustl.edu	37	chr6	36168129	36168129	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctcgtcggaagtcccggcaGaatgccgagggccggcgttc	15	14	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:36168129G>A	ENST00000357641.6	+	2	283	c.30G>A	c.(28-30)caG>caA	p.Q10Q	BRPF3_ENST00000543502.1_Silent_p.Q10Q|BRPF3_ENST00000534694.1_Silent_p.Q10Q|BRPF3_ENST00000443324.2_Silent_p.Q10Q|BRPF3_ENST00000339717.7_Silent_p.Q10Q|BRPF3_ENST00000534400.1_Silent_p.Q10Q	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	10					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGTCCCGGCAGAATGCCGAGG	0.622																																																	0													38	40	40					6																	36168129		2203	4300	6503	SO:0001819	synonymous_variant	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.30G>A	6.37:g.36168129G>A			A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.Q10	ENST00000357641.6	37	c.30	CCDS34437.1	6																																																																																			BRPF3	-	NULL		0.622	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	G	NM_015695		36168129	1	no_errors	ENST00000357641	ensembl	human	known	70_37	silent	SNP	0.994	A	A	36168129	G	A	36168129	2	1	185	1	0	0	0	0	0	0	0	1	1524	933	33	1		1	BRPF3	6	36168129	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	694277	36168129	134946938	586	34861										
KCTD20	222658	genome.wustl.edu	37	chr6	36452532	36452532	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acagattcttcaaatatattGagaatagggatgttgcaaaa	8	4	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:36452532G>T	ENST00000373731.2	+	7	1289	c.898G>T	c.(898-900)Gag>Tag	p.E300*	KCTD20_ENST00000536244.1_Nonsense_Mutation_p.E155*|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000449081.2_Nonsense_Mutation_p.E134*|KCTD20_ENST00000544295.1_Nonsense_Mutation_p.E54*	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	300					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CAAATATATTGAGAATAGGGA	0.338																																																	0													124	145	138					6																	36452532		2202	4300	6502	SO:0001587	stop_gained	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.898G>T	6.37:g.36452532G>T	ENSP00000362836:p.Glu300*		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Nonsense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E300*	ENST00000373731.2	37	c.898	CCDS4821.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.060455	0.98635	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	.	.	.	5.53	5.53	0.82687	.	0.128411	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.5825	19.6591	0.95857	0.0:0.0:1.0:0.0	.	.	.	.	X	300;54;134;155	.	ENSP00000362836:E300X	E	+	1	0	KCTD20	36560510	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.652000	0.98499	2.879000	0.98667	0.650000	0.86243	GAG	KCTD20	-	NULL		0.338	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD20	HGNC	protein_coding	OTTHUMT00000040345.2	G	NM_173562		36452532	1	no_errors	ENST00000373731	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	36452532	G	T	36452532	4	4	185	1	0	0	0	0	0	1	0	0	8128	1291	45	3	920	3	KCTD20	6	36452532	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	284403	36452532	134662535	587	34862										
MTCH1	23787	genome.wustl.edu	37	chr6	36949389	36949389	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgaagaagctcggcagataGaggaccttcctccccagcac	11	13	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:36949389G>C	ENST00000373627.5	-	2	505	c.381C>G	c.(379-381)ctC>ctG	p.L127L	MTCH1_ENST00000373616.5_Silent_p.L127L|MTCH1_ENST00000538808.1_Intron	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	127					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCGGCAGATAGAGGACCTTCC	0.577																																																	0													62	53	56					6																	36949389		2203	4300	6503	SO:0001819	synonymous_variant	23787			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.381C>G	6.37:g.36949389G>C			A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L127	ENST00000373627.5	37	c.381		6																																																																																			MTCH1	-	superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.577	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	MTCH1	HGNC	protein_coding	OTTHUMT00000040396.1	G	NM_014341		36949389	-1	no_errors	ENST00000373627	ensembl	human	known	70_37	silent	SNP	1.000	C	C	36949389	G	C	36949389	2	2	185	1	0	0	0	0	0	0	0	1	9936	929	33	1		1	MTCH1	6	36949389	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	496857	36949389	134165678	588	34863										
FTSJD2	23070	genome.wustl.edu	37	chr6	37414095	37414095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggcttcagggaaggtgaagGattgggtaaatacagccagg	17	5	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:37414095G>A	ENST00000373451.4	+	4	478	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	105	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GAAGGTGAAGGATTGGGTAAA	0.493																																																	0													165	161	162					6																	37414095		2203	4300	6503	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.314G>A	6.37:g.37414095G>A	ENSP00000362550:p.Gly105Glu		A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom	p.G105E	ENST00000373451.4	37	c.314	CCDS4835.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048431	0.93740	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.81163	-1.46;-1.46	5.44	5.44	0.79542	D111/G-patch (3);	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.95029	0.8167	10	0.87932	D	0	-10.0677	16.4315	0.83847	0.0:0.0:1.0:0.0	.	105;105	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	E	105	ENSP00000362550:G105E;ENSP00000414233:G105E	ENSP00000362526:G105E	G	+	2	0	FTSJD2	37522073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.553000	0.86117	0.655000	0.94253	GGA	FTSJD2	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.493	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD2	HGNC	protein_coding	OTTHUMT00000040408.1	G	NM_015050		37414095	1	no_errors	ENST00000373451	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37414095	G	A	37414095	3	1	185	1	0	0	0	0	1	0	0	0	6109	1174	41	1	324	1	FTSJD2	6	37414095	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	464706	37414095	133700972	589	34864										
BTBD9	114781	genome.wustl.edu	37	chr6	38548046	38548046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgattgataatggatggctGacctagcttaatctcgatgc	11	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:38548046G>C	ENST00000481247.1	-	5	1133	c.982C>G	c.(982-984)Cag>Gag	p.Q328E	BTBD9_ENST00000419706.2_Missense_Mutation_p.Q269E|BTBD9_ENST00000408958.1_Missense_Mutation_p.Q260E|BTBD9_ENST00000314100.6_Missense_Mutation_p.Q260E|BTBD9_ENST00000403056.1_Missense_Mutation_p.Q328E	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	328					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATGGATGGCTGACCTAGCTTA	0.408																																																	0													125	120	122					6																	38548046		1893	4116	6009	SO:0001583	missense	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.982C>G	6.37:g.38548046G>C	ENSP00000418751:p.Gln328Glu		Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.Q328E	ENST00000481247.1	37	c.982	CCDS47418.1	6	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255596	0.39896	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98075	-4.7;-4.7;-0.91;-4.7;-4.7	5.48	5.48	0.80851	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.103368	0.64402	D	0.000002	D	0.95354	0.8492	M	0.79258	2.445	0.58432	D	0.999997	B;B	0.28900	0.227;0.112	B;B	0.29353	0.101;0.085	D	0.95618	0.8678	10	0.09338	T	0.73	.	19.3387	0.94332	0.0:0.0:1.0:0.0	.	269;328	Q494V9;Q96Q07	.;BTBD9_HUMAN	E	260;328;269;328;260	ENSP00000323408:Q260E;ENSP00000418751:Q328E;ENSP00000415365:Q269E;ENSP00000386121:Q328E;ENSP00000386211:Q260E	ENSP00000323408:Q260E	Q	-	1	0	BTBD9	38656024	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.803000	0.85983	2.588000	0.87417	0.655000	0.94253	CAG	BTBD9	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like		0.408	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2	G	NM_152733		38548046	-1	no_errors	ENST00000403056	ensembl	human	known	70_37	missense	SNP	1.000	C	C	38548046	G	C	38548046	3	2	185	1	0	0	0	0	1	0	0	0	1551	1299	45	1	975	1	BTBD9	6	38548046	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1133951	38548046	132567021	590	34865										
DNAH8	1769	genome.wustl.edu	37	chr6	38709540	38709540	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctggtgattcaggtccactCactgaattggaacactggaa	11	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:38709540C>G	ENST00000359357.3	+	6	773	c.519C>G	c.(517-519)ctC>ctG	p.L173L	RN7SL465P_ENST00000468411.2_RNA|DNAH8_ENST00000441566.1_Silent_p.L173L|DNAH8_ENST00000449981.2_Silent_p.L390L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	173					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGGTCCACTCACTGAATTGG	0.368																																																	0													112	99	103					6																	38709540		2203	4300	6503	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.519C>G	6.37:g.38709540C>G			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L173	ENST00000359357.3	37	c.519		6																																																																																			DNAH8	-	pfam_Dynein_heavy_dom-1		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38709540	1	no_errors	ENST00000359357	ensembl	human	known	70_37	silent	SNP	0.992	G	G	38709540	C	G	38709540	2	3	185	1	0	0	0	0	0	0	0	1	4617	813	29	1		1	DNAH8	6	38709540	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	161494	38709540	132405527	591	34866										
DNAH8	1769	genome.wustl.edu	37	chr6	38850715	38850715	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcactggaataagaaacttCagccttattattatccaact	5	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:38850715C>T	ENST00000359357.3	+	52	7491	c.7237C>T	c.(7237-7239)Cag>Tag	p.Q2413*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q2377*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q2630*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2413					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAGAAACTTCAGCCTTATTA	0.294																																																	0													92	100	97					6																	38850715		2203	4297	6500	SO:0001587	stop_gained	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7237C>T	6.37:g.38850715C>T	ENSP00000352312:p.Gln2413*		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q2413*	ENST00000359357.3	37	c.7237		6	.	.	.	.	.	.	.	.	.	.	C	49	15.836912	0.99846	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.87	4.96	0.65561	.	0.511623	0.21231	N	0.077965	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.3665	0.87365	0.0:0.783:0.217:0.0	.	.	.	.	X	2618;2618;2413;2377	.	ENSP00000333363:Q2618X	Q	+	1	0	DNAH8	38958693	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.624000	0.46444	2.775000	0.95449	0.650000	0.86243	CAG	DNAH8	-	NULL		0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38850715	1	no_errors	ENST00000359357	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	38850715	C	T	38850715	4	4	185	1	0	0	0	0	0	1	0	0	4617	827	29	1	7435	1	DNAH8	6	38850715	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	141175	38850715	132264352	592	34867										
DAAM2	23500	genome.wustl.edu	37	chr6	39843173	39843173	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcctccagcagattgtcctCcaggatgagcggggtgtgga	14	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:39843173C>T	ENST00000398904.2	+	11	1412	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	DAAM2_ENST00000538976.1_Silent_p.L410L|DAAM2_ENST00000274867.4_Silent_p.L410L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	410	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGATTGTCCTCCAGGATGAGC	0.552																																																	0													91	96	94					6																	39843173		2100	4229	6329	SO:0001819	synonymous_variant	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1230C>T	6.37:g.39843173C>T			G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L410	ENST00000398904.2	37	c.1230	CCDS56426.1	6																																																																																			DAAM2	-	pfam_Drf_FH3,superfamily_ARM-type_fold		0.552	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	C			39843173	1	no_errors	ENST00000274867	ensembl	human	known	70_37	silent	SNP	0.948	T	T	39843173	C	T	39843173	2	4	185	1	0	0	0	0	0	0	0	1	4221	842	30	1		1	DAAM2	6	39843173	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	992458	39843173	131271894	593	34868										
TREML4	285852	genome.wustl.edu	37	chr6	41196699	41196699	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagctgacacagaatgactCgggattctactggtgtggaa	12	8	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:41196699C>G	ENST00000341495.2	+	2	415	c.311C>G	c.(310-312)tCg>tGg	p.S104W	TREML4_ENST00000448827.2_Missense_Mutation_p.S104W	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	104	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGAATGACTCGGGATTCTAC	0.463																																																	0													90	85	86					6																	41196699		2203	4300	6503	SO:0001583	missense	285852			AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"Immunoglobulin superfamily / V-set domain containing"	30807	protein-coding gene	gene with protein product	"TREM like transcript 4"	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.311C>G	6.37:g.41196699C>G	ENSP00000342570:p.Ser104Trp		B7ZL92	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S104W	ENST00000341495.2	37	c.311	CCDS34446.1	6	.	.	.	.	.	.	.	.	.	.	.	12.12	1.842357	0.32513	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.71222	-0.55;-0.55	4.17	-0.362	0.12560	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72447	0.3461	M	0.85373	2.75	0.09310	N	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.61123	-0.7126	9	0.87932	D	0	-11.7928	3.676	0.08292	0.0:0.4118:0.1887:0.3995	.	104	Q6UXN2	TRML4_HUMAN	W	104	ENSP00000342570:S104W;ENSP00000418078:S104W	ENSP00000342570:S104W	S	+	2	0	TREML4	41304677	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.178000	0.09782	-0.321000	0.08627	0.543000	0.68304	TCG	TREML4	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.463	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML4	HGNC	protein_coding	OTTHUMT00000043873.2	C			41196699	1	no_errors	ENST00000341495	ensembl	human	known	70_37	missense	SNP	0.000	G	G	41196699	C	G	41196699	3	3	185	1	0	0	0	0	1	0	0	0	16505	893	31	1	317	1	TREML4	6	41196699	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1353526	41196699	129918368	594	34869										
FOXP4	116113	genome.wustl.edu	37	chr6	41562607	41562607	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcctcttcactgcacccacaGaacgccgtgcgccacaacct	6	19	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:41562607G>A	ENST00000307972.4	+	13	1548		c.e13-1		FOXP4_ENST00000409208.1_Splice_Site|FOXP4_ENST00000373060.1_Splice_Site|FOXP4_ENST00000373057.3_Splice_Site|FOXP4_ENST00000373063.3_Splice_Site			Q8IVH2	FOXP4_HUMAN	forkhead box P4						embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCACCCACAGAACGCCGTGC	0.612											OREG0004067	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													87	66	73					6																	41562607		2203	4300	6503	SO:0001630	splice_region_variant	116113			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1537-1G>A	6.37:g.41562607G>A		902	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Splice_Site	SNP	-	e13-1	ENST00000307972.4	37	c.1537-1	CCDS34447.1	6	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437384	0.62955	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0553	0.80798	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOXP4	41670585	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	9.559000	0.98135	2.108000	0.64289	0.563000	0.77884	.	FOXP4	-	-		0.612	FOXP4-002	KNOWN	basic|CCDS	protein_coding	FOXP4	HGNC	protein_coding	OTTHUMT00000106767.1	G	NM_138457	Intron	41562607	1	no_errors	ENST00000307972	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	41562607	G	A	41562607	5	1	185	1	0	0	0	0	0	0	1	0	6047	956	33	1	1586	1	FOXP4	6	41562607	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	365908	41562607	129552460	595	34870										
TRERF1	55809	genome.wustl.edu	37	chr6	42235924	42235924	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcactgggagacagctgctGatgctgaggccccatgttgt	15	10	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:42235924G>C	ENST00000372922.4	-	5	1967	c.1405C>G	c.(1405-1407)Cag>Gag	p.Q469E	TRERF1_ENST00000541110.1_Missense_Mutation_p.Q469E|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q469E|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q469E|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q469E	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	469	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACAGCTGCTGATGCTGAGGC	0.607																																																	0													62	64	64					6																	42235924		2203	4300	6503	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1405C>G	6.37:g.42235924G>C	ENSP00000362013:p.Gln469Glu		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.Q469E	ENST00000372922.4	37	c.1405	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906743	0.33628	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13307	2.88;2.6;2.85;2.6;2.6	5.17	5.17	0.71159	.	0.362866	0.23648	N	0.045957	T	0.03136	0.0092	N	0.24115	0.695	0.27653	N	0.947346	B;B;B;B;B	0.28636	0.135;0.083;0.083;0.218;0.218	B;B;B;B;B	0.33042	0.157;0.075;0.075;0.157;0.157	T	0.32188	-0.9916	10	0.02654	T	1	-11.5362	14.0274	0.64594	0.0:0.0:1.0:0.0	.	469;469;469;308;308	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	E	469	ENSP00000439689:Q469E;ENSP00000362008:Q469E;ENSP00000362013:Q469E;ENSP00000339438:Q469E;ENSP00000346285:Q469E	ENSP00000339438:Q469E	Q	-	1	0	TRERF1	42343902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.860000	0.55995	2.688000	0.91661	0.491000	0.48974	CAG	TRERF1	-	NULL		0.607	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	G	NM_033502		42235924	-1	no_errors	ENST00000541110	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42235924	G	C	42235924	3	2	185	1	0	0	0	0	1	0	0	0	16506	1299	45	1	2253	1	TRERF1	6	42235924	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	673317	42235924	128879143	596	34871										
ABCC10	89845	genome.wustl.edu	37	chr6	43413544	43413544	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttgagcatcatgtactatCacgtgcagcgccactacagg	9	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:43413544C>T	ENST00000372530.4	+	15	3453	c.3238C>T	c.(3238-3240)Cac>Tac	p.H1080Y	ABCC10_ENST00000244533.3_Missense_Mutation_p.H1052Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1080	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CATGTACTATCACGTGCAGCG	0.672																																																	0													41	40	40					6																	43413544		2203	4299	6502	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3238C>T	6.37:g.43413544C>T	ENSP00000361608:p.His1080Tyr		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.H1080Y	ENST00000372530.4	37	c.3238	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.077638	0.00375	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.88896	-2.44;-2.44	5.16	1.05	0.20165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.546700	0.21148	N	0.079366	T	0.28566	0.0707	N	0.00405	-1.535	0.09310	N	1	B;B	0.20550	0.0;0.046	B;B	0.17098	0.0;0.017	T	0.52682	-0.8543	10	0.02654	T	1	-4.4135	0.7433	0.00977	0.4013:0.2387:0.1993:0.1607	.	1052;1080	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	1080;1052	ENSP00000361608:H1080Y;ENSP00000244533:H1052Y	ENSP00000244533:H1052Y	H	+	1	0	ABCC10	43521522	0.026000	0.19158	0.011000	0.14972	0.136000	0.21042	0.546000	0.23284	0.321000	0.23259	-0.152000	0.13540	CAC	ABCC10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.672	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43413544	1	no_errors	ENST00000372530	ensembl	human	known	70_37	missense	SNP	0.020	T	T	43413544	C	T	43413544	3	4	185	1	0	0	0	0	1	0	0	0	50	826	29	1	3204	1	ABCC10	6	43413544	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1177620	43413544	127701523	597	34872										
SLC29A1	2030	genome.wustl.edu	37	chr6	44197428	44197428	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccctgcagcacccttgcctGagcggaactctctcagtgcc	9	18	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:44197428G>C	ENST00000393841.1	+	5	705	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	SLC29A1_ENST00000393844.1_Missense_Mutation_p.E72Q|SLC29A1_ENST00000371713.1_Missense_Mutation_p.E72Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000313248.7_Missense_Mutation_p.E151Q|SLC29A1_ENST00000371724.1_Missense_Mutation_p.E72Q|SLC29A1_ENST00000371708.1_Missense_Mutation_p.E72Q|SLC29A1_ENST00000427851.2_Missense_Mutation_p.E72Q|SLC29A1_ENST00000371755.3_Missense_Mutation_p.E72Q|SLC29A1_ENST00000371740.5_Missense_Mutation_p.E72Q|SLC29A1_ENST00000371731.1_Missense_Mutation_p.E72Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	72					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	ACCCTTGCCTGAGCGGAACTC	0.557																																																	0													138	134	135					6																	44197428		2203	4300	6503	SO:0001583	missense	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.214G>C	6.37:g.44197428G>C	ENSP00000377424:p.Glu72Gln		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.E151Q	ENST00000393841.1	37	c.451	CCDS4908.1	6	.	.	.	.	.	.	.	.	.	.	G	8.603	0.887215	0.17540	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.1	3.17	0.36434	.	3.692270	0.00766	N	0.001165	T	0.09423	0.0232	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.28933	0.049;0.228;0.029;0.009	B;B;B;B	0.32022	0.047;0.139;0.021;0.009	T	0.22173	-1.0224	10	0.23891	T	0.37	-19.5516	4.7311	0.12964	0.3356:0.0:0.6644:0.0	.	72;91;151;72	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	Q	91;72;151;72;72;72;72;72;72;72;72	ENSP00000377427:E72Q;ENSP00000319152:E151Q;ENSP00000392668:E72Q;ENSP00000360820:E72Q;ENSP00000360805:E72Q;ENSP00000360796:E72Q;ENSP00000377424:E72Q;ENSP00000360789:E72Q;ENSP00000360778:E72Q;ENSP00000360773:E72Q	ENSP00000319152:E151Q	E	+	1	0	SLC29A1	44305406	0.008000	0.16893	0.003000	0.11579	0.076000	0.17211	1.505000	0.35736	1.376000	0.46267	0.563000	0.77884	GAG	SLC29A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt		0.557	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	G			44197428	1	no_errors	ENST00000313248	ensembl	human	known	70_37	missense	SNP	0.001	C	C	44197428	G	C	44197428	3	2	185	1	0	0	0	0	1	0	0	0	14564	1291	45	1	224	1	SLC29A1	6	44197428	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	783884	44197428	126917639	598	34873										
TCTE1	202500	genome.wustl.edu	37	chr6	44255450	44255450	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggtgtgattgaaggctttGagagctgtgggcttgtgctt	16	5	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:44255450G>C	ENST00000371505.4	-	2	235	c.113C>G	c.(112-114)tCa>tGa	p.S38*	TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_5'Flank	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	38										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGAAGGCTTTGAGAGCTGTGG	0.557																																																	0													214	151	172					6																	44255450		2203	4300	6503	SO:0001587	stop_gained	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.113C>G	6.37:g.44255450G>C	ENSP00000360560:p.Ser38*		B4DX59|Q8IYS6	Nonsense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S38*	ENST00000371505.4	37	c.113	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463007	0.63513	.	.	ENSG00000146221	ENST00000371505	.	.	.	3.89	-0.961	0.10337	.	2.506010	0.01555	N	0.019878	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.0461	5.4733	0.16682	0.1552:0.3579:0.4869:0.0	.	.	.	.	X	38	.	ENSP00000360560:S38X	S	-	2	0	TCTE1	44363428	0.000000	0.05858	0.000000	0.03702	0.317000	0.28152	0.082000	0.14847	-0.183000	0.10585	0.411000	0.27672	TCA	TCTE1	-	NULL		0.557	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	G	NM_182539		44255450	-1	no_errors	ENST00000371505	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	44255450	G	C	44255450	4	2	185	1	0	0	0	0	0	1	0	0	15747	1294	45	1	1408	1	TCTE1	6	44255450	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	58022	44255450	126859617	599	34874										
GPR110	266977	genome.wustl.edu	37	chr6	46988506	46988506	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgactcaaaaccttgaattCtttcatatgcttttttaagc	4	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:46988506C>G	ENST00000371253.2	-	7	787	c.572G>C	c.(571-573)aGa>aCa	p.R191T	GPR110_ENST00000371243.2_Missense_Mutation_p.R191T|GPR110_ENST00000283297.5_5'Flank|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	191	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R191I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTGAATTCTTTCATATGC	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											91	86	88					6																	46988506		2203	4300	6503	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.572G>C	6.37:g.46988506C>G	ENSP00000360299:p.Arg191Thr		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.R191T	ENST00000371253.2	37	c.572	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731499	0.15507	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T;T	0.33438	1.41;1.41	5.12	1.22	0.21188	SEA (1);	0.681363	0.13437	N	0.388007	T	0.05731	0.0150	L	0.31926	0.97	0.09310	N	1	P;B	0.37276	0.589;0.273	B;B	0.35813	0.211;0.134	T	0.34775	-0.9815	10	0.12430	T	0.62	0.1548	4.0256	0.09685	0.1623:0.5673:0.0:0.2704	.	191;191	Q5T601-2;Q5T601	.;GP110_HUMAN	T	191	ENSP00000360299:R191T;ENSP00000360289:R191T	ENSP00000360289:R191T	R	-	2	0	GPR110	47096465	0.010000	0.17322	0.009000	0.14445	0.729000	0.41735	0.216000	0.17585	-0.079000	0.12707	-0.150000	0.13652	AGA	GPR110	-	pfam_SEA		0.388	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	C	NM_153840		46988506	-1	no_errors	ENST00000371253	ensembl	human	known	70_37	missense	SNP	0.006	G	G	46988506	C	G	46988506	3	3	185	1	0	0	0	0	1	0	0	0	6646	913	32	1	2246	1	GPR110	6	46988506	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2733056	46988506	124126561	600	34875										
GPR111	222611	genome.wustl.edu	37	chr6	47650137	47650137	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgatcccagctttggccatCgtggtagtaaacctgatcac	10	11	1	2	rs200862951		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:47650137C>T	ENST00000296862.1	+	6	1842	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	GPR111_ENST00000507065.1_Silent_p.I546I|GPR111_ENST00000398742.2_Silent_p.I546I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	614					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTTGGCCATCGTGGTAGTAA	0.527													C|||	1	0.000199681	0	0.0014	5008	,	,		22520	0		0	False		,,,				2504	0																0								C		2,4114		0,2,2056	57	58	58		1638	-7.7	0.8	6		58	9,8403		0,9,4197	no	coding-synonymous	GPR111	NM_153839.6		0,11,6253	TT,TC,CC		0.107,0.0486,0.0878		546/643	47650137	11,12517	2058	4206	6264	SO:0001819	synonymous_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1842C>T	6.37:g.47650137C>T			Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.I614	ENST00000296862.1	37	c.1842		6																																																																																			GPR111	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.527	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	C	NM_153839		47650137	1	no_errors	ENST00000296862	ensembl	human	known	70_37	silent	SNP	0.775	T	T	47650137	C	T	47650137	2	4	185	1	0	0	0	0	0	0	0	1	6647	874	31	1		1	GPR111	6	47650137	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	661631	47650137	123464930	601	34876										
RHAG	6005	genome.wustl.edu	37	chr6	49578773	49578773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgctactgccacaatgcctGcaaggcctcccactacacca	6	17	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:49578773G>A	ENST00000371175.4	-	7	1057	c.1031C>T	c.(1030-1032)gCa>gTa	p.A344V	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	344					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CACAATGCCTGCAAGGCCTCC	0.468																																					Ovarian(176;476 2003 7720 43408 44749)												0													95	91	92					6																	49578773		2203	4300	6503	SO:0001583	missense	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1031C>T	6.37:g.49578773G>A	ENSP00000360217:p.Ala344Val		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.A344V	ENST00000371175.4	37	c.1031	CCDS4927.1	6	.	.	.	.	.	.	.	.	.	.	G	7.555	0.663449	0.14710	.	.	ENSG00000112077	ENST00000371175;ENST00000418071;ENST00000539403	T	0.26067	1.76	5.03	4.16	0.48862	Ammonium transporter AmtB-like (3);	0.051864	0.85682	D	0.000000	T	0.10895	0.0266	L	0.49699	1.58	0.80722	D	1	P;B	0.39717	0.684;0.036	B;B	0.40444	0.329;0.1	T	0.06285	-1.0835	10	0.14656	T	0.56	-8.7115	9.3931	0.38386	0.1636:0.0:0.8364:0.0	.	344;344	Q9UHG9;Q02094	.;RHAG_HUMAN	V	344	ENSP00000360217:A344V	ENSP00000360217:A344V	A	-	2	0	RHAG	49686732	0.998000	0.40836	0.025000	0.17156	0.028000	0.11728	4.493000	0.60341	1.239000	0.43787	0.655000	0.94253	GCA	RHAG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD		0.468	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHAG	HGNC	protein_coding	OTTHUMT00000043806.1	G			49578773	-1	no_errors	ENST00000371175	ensembl	human	known	70_37	missense	SNP	0.830	A	A	49578773	G	A	49578773	3	1	185	1	0	0	0	0	1	0	0	0	13345	1319	46	4	214	4	RHAG	6	49578773	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1928636	49578773	121536294	602	34877										
TMEM14A	28978	genome.wustl.edu	37	chr6	52541933	52541933	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggttttggttatgcagccctCgtgacatttggaagcatttt	11	7	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:52541933C>T	ENST00000211314.4	+	2	186	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	11						integral component of membrane (GO:0016021)				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					ATGCAGCCCTCGTGACATTTG	0.423																																																	0													162	153	156					6																	52541933		2203	4300	6503	SO:0001819	synonymous_variant	28978			AF239771	CCDS4943.1	6p12.3	2008-02-05			ENSG00000096092	ENSG00000096092			21076	protein-coding gene	gene with protein product							Standard	NM_014051		Approved	PTD011, C6orf73	uc003pax.3	Q9Y6G1	OTTHUMG00000014856	ENST00000211314.4:c.33C>T	6.37:g.52541933C>T			B2R552	Silent	SNP	pfam_UPF0136_TM	p.L11	ENST00000211314.4	37	c.33	CCDS4943.1	6																																																																																			TMEM14A	-	pfam_UPF0136_TM		0.423	TMEM14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14A	HGNC	protein_coding	OTTHUMT00000040916.1	C	NM_014051		52541933	1	no_errors	ENST00000211314	ensembl	human	known	70_37	silent	SNP	0.218	T	T	52541933	C	T	52541933	2	4	185	1	0	0	0	0	0	0	0	1	16093	871	31	1		1	TMEM14A	6	52541933	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2963160	52541933	118573134	603	34878										
FBXO9	26268	genome.wustl.edu	37	chr6	52958272	52958272	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttattacataggtacataaGattctttcctgatggccatg	7	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:52958272G>A	ENST00000244426.6	+	9	1074	c.902G>A	c.(901-903)aGa>aAa	p.R301K	FBXO9_ENST00000370939.3_Missense_Mutation_p.R257K|RN7SL244P_ENST00000493405.2_RNA|FBXO9_ENST00000323557.7_Missense_Mutation_p.R291K	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	301					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					AGGTACATAAGATTCTTTCCT	0.388																																																	0													105	98	100					6																	52958272		1876	4106	5982	SO:0001583	missense	26268			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.902G>A	6.37:g.52958272G>A	ENSP00000244426:p.Arg301Lys		A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R301K	ENST00000244426.6	37	c.902	CCDS55023.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.448424	0.96205	.	.	ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426	D;D;D	0.89050	-2.42;-2.44;-2.46	5.62	5.62	0.85841	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.998	D;D;P	0.87578	0.998;0.925;0.904	D	0.95173	0.8292	10	0.72032	D	0.01	-17.399	19.6602	0.95864	0.0:0.0:1.0:0.0	.	291;408;301	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	K	257;291;301	ENSP00000359977:R257K;ENSP00000326968:R291K;ENSP00000244426:R301K	ENSP00000244426:R301K	R	+	2	0	FBXO9	53066231	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	9.476000	0.97823	2.651000	0.90000	0.563000	0.77884	AGA	FBXO9	-	superfamily_F-box_dom_cyclin-like		0.388	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	HGNC	protein_coding	OTTHUMT00000040950.3	G			52958272	1	no_errors	ENST00000244426	ensembl	human	known	70_37	missense	SNP	1.000	A	A	52958272	G	A	52958272	3	1	185	1	0	0	0	0	1	0	0	0	5780	942	33	1	943	1	FBXO9	6	52958272	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	416339	52958272	118156795	604	34879										
PHF3	23469	genome.wustl.edu	37	chr6	64408465	64408465	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagaacaaatatagaagtttGatgtttaatttgaaagatcc	7	3	0	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:64408465G>C	ENST00000262043.3	+	8	3292	c.2952G>C	c.(2950-2952)ttG>ttC	p.L984F	PHF3_ENST00000393387.1_Missense_Mutation_p.L984F			Q92576	PHF3_HUMAN	PHD finger protein 3	984	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAGAAGTTTGATGTTTAATT	0.318																																					GBM(135;136 1820 29512 34071 46235)												0													35	42	40					6																	64408465		2194	4290	6484	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2952G>C	6.37:g.64408465G>C	ENSP00000262043:p.Leu984Phe		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.L984F	ENST00000262043.3	37	c.2952	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948321	0.34377	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.49	3.71	0.42584	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.32548	N	0.005959	T	0.53722	0.1814	M	0.80508	2.5	0.58432	D	0.999999	D	0.65815	0.995	D	0.67231	0.95	T	0.59658	-0.7413	10	0.87932	D	0	-6.0628	6.3692	0.21471	0.2201:0.1381:0.6418:0.0	.	984	Q92576	PHF3_HUMAN	F	798;253;984;984	ENSP00000424694:L798F;ENSP00000425338:L253F;ENSP00000262043:L984F;ENSP00000377048:L984F	ENSP00000262043:L984F	L	+	3	2	PHF3	64466424	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.915000	0.39976	0.796000	0.33947	-0.439000	0.05793	TTG	PHF3	-	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M		0.318	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	G			64408465	1	no_errors	ENST00000262043	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64408465	G	C	64408465	3	2	185	1	0	0	0	0	1	0	0	0	11860	1281	45	1	2978	1	PHF3	6	64408465	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11450193	64408465	106706602	605	34880										
DDX43	55510	genome.wustl.edu	37	chr6	74125280	74125280	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggagggttgcctctgaattGattaatattctggaaagagc	12	5	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:74125280G>C	ENST00000370336.4	+	15	1964	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	602	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCTCTGAATTGATTAATATTC	0.378																																																	0													112	111	111					6																	74125280		2203	4300	6503	SO:0001583	missense	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1806G>C	6.37:g.74125280G>C	ENSP00000359361:p.Leu602Phe		B4E0C8|Q6NXR1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L602F	ENST00000370336.4	37	c.1806	CCDS4977.1	6	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429745	0.25726	.	.	ENSG00000080007	ENST00000370336	T	0.23950	1.88	4.66	-0.465	0.12157	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.15093	-1.0449	10	0.87932	D	0	-5.5335	9.2046	0.37282	0.4605:0.0:0.5395:0.0	.	602	Q9NXZ2	DDX43_HUMAN	F	602	ENSP00000359361:L602F	ENSP00000359361:L602F	L	+	3	2	DDX43	74182001	1.000000	0.71417	0.960000	0.40013	0.005000	0.04900	1.158000	0.31737	-0.144000	0.11314	-1.075000	0.02238	TTG	DDX43	-	pfscan_Helicase_C		0.378	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3	G	NM_018665		74125280	1	no_errors	ENST00000370336	ensembl	human	known	70_37	missense	SNP	0.988	C	C	74125280	G	C	74125280	3	2	185	1	0	0	0	0	1	0	0	0	4368	1281	45	1	1864	1	DDX43	6	74125280	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9716815	74125280	96989787	606	34881										
DOPEY1	23033	genome.wustl.edu	37	chr6	83847173	83847173	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgaatgcccaagaggattctCaaatgcccaaggaaagctcc	9	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:83847173C>G	ENST00000349129.2	+	21	3672	c.3412C>G	c.(3412-3414)Caa>Gaa	p.Q1138E	DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1119E|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1129E	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1138					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGAGGATTCTCAAATGCCCAA	0.453																																																	0													66	66	66					6																	83847173		2203	4299	6502	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3412C>G	6.37:g.83847173C>G	ENSP00000195654:p.Gln1138Glu		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.Q1138E	ENST00000349129.2	37	c.3412	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	3.272	-0.148958	0.06585	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.21932	1.98;1.98	5.69	5.69	0.88448	.	0.359515	0.33199	N	0.005161	T	0.06280	0.0162	N	0.24115	0.695	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.004	T	0.14924	-1.0455	10	0.02654	T	1	.	19.8089	0.96540	0.0:1.0:0.0:0.0	.	1029;1129;1138	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	E	1138;1119;1119	ENSP00000195654:Q1138E;ENSP00000237163:Q1119E	ENSP00000237163:Q1119E	Q	+	1	0	DOPEY1	83903892	0.970000	0.33590	0.827000	0.32855	0.708000	0.40852	3.201000	0.51059	2.677000	0.91161	0.460000	0.39030	CAA	DOPEY1	-	superfamily_ARM-type_fold		0.453	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	C	NM_015018		83847173	1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	0.986	G	G	83847173	C	G	83847173	3	3	185	1	0	0	0	0	1	0	0	0	4717	827	29	1	3486	1	DOPEY1	6	83847173	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	9721893	83847173	87267894	607	34882										
SLC35A1	10559	genome.wustl.edu	37	chr6	88218210	88218210	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaacattcaaatgtatctatCagggattattgtgacattag	7	5	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:88218210C>T	ENST00000369552.4	+	6	674	c.647C>T	c.(646-648)tCa>tTa	p.S216L	SLC35A1_ENST00000369556.3_Intron|SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000544441.1_Missense_Mutation_p.S82L	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	216					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGTATCTATCAGGGATTATT	0.318																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)												0													90	92	92					6																	88218210		2202	4298	6500	SO:0001583	missense	10559			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"Solute carriers"	11021	protein-coding gene	gene with protein product		605634	"solute carrier family 35 (UDP-galactose transporter), member 1"			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.647C>T	6.37:g.88218210C>T	ENSP00000358565:p.Ser216Leu		Q5W1L8	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.S216L	ENST00000369552.4	37	c.647	CCDS5010.1	6	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753302	0.69648	.	.	ENSG00000164414	ENST00000544441;ENST00000369552	T;T	0.39406	1.08;1.08	5.88	5.02	0.67125	.	0.000000	0.85682	U	0.000000	T	0.21103	0.0508	N	0.13352	0.335	0.80722	D	1	P;B	0.45348	0.856;0.023	P;B	0.46718	0.525;0.002	T	0.05084	-1.0907	10	0.35671	T	0.21	-45.7844	15.1945	0.73075	0.0:0.9325:0.0:0.0675	.	216;82	P78382;B4DEM1	S35A1_HUMAN;.	L	82;216	ENSP00000438603:S82L;ENSP00000358565:S216L	ENSP00000358565:S216L	S	+	2	0	SLC35A1	88274929	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.412000	0.80091	1.502000	0.48669	0.561000	0.74099	TCA	SLC35A1	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt		0.318	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A1	HGNC	protein_coding	OTTHUMT00000041446.1	C			88218210	1	no_errors	ENST00000369552	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88218210	C	T	88218210	3	4	185	1	0	0	0	0	1	0	0	0	14600	838	29	1	669	1	SLC35A1	6	88218210	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4371037	88218210	82896857	608	34883										
PNRC1	10957	genome.wustl.edu	37	chr6	89790884	89790884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgtggcgggaggcactcctCgggcagcgccgaagaagcgg	18	13	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:89790884C>T	ENST00000336032.3	+	1	388	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	PNRC1_ENST00000369472.1_Intron|PNRC1_ENST00000354922.3_5'Flank|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		AGGCACTCCTCGGGCAGCGCC	0.701										Multiple Myeloma(7;0.094)																																							0													7	8	7					6																	89790884		2158	4257	6415	SO:0001583	missense	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.271C>T	6.37:g.89790884C>T	ENSP00000336931:p.Arg91Trp		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	NULL	p.R91W	ENST00000336032.3	37	c.271	CCDS5018.1	6	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438492	0.62955	.	.	ENSG00000146278	ENST00000336032	T	0.52526	0.66	4.93	4.93	0.64822	.	0.350509	0.26366	N	0.024785	T	0.55784	0.1942	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64687	0.928;0.928	T	0.59553	-0.7433	10	0.87932	D	0	-6.353	16.5027	0.84261	0.0:1.0:0.0:0.0	.	91;91	Q12796;Q7Z5N0	PNRC1_HUMAN;.	W	91	ENSP00000336931:R91W	ENSP00000336931:R91W	R	+	1	2	PNRC1	89847603	0.986000	0.35501	0.977000	0.42913	0.143000	0.21401	4.104000	0.57790	2.557000	0.86248	0.555000	0.69702	CGG	PNRC1	-	NULL		0.701	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNRC1	HGNC	protein_coding	OTTHUMT00000041471.1	C	NM_006813		89790884	1	no_errors	ENST00000336032	ensembl	human	known	70_37	missense	SNP	0.995	T	T	89790884	C	T	89790884	3	4	185	1	0	0	0	0	1	0	0	0	12198	875	31	1	273	1	PNRC1	6	89790884	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1572674	89790884	81324183	609	34884										
ANKRD6	22881	genome.wustl.edu	37	chr6	90276740	90276740	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcactttcagagcgccttctCgtagctgcgtacaaaggcca	10	13	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:90276740C>G	ENST00000522441.1	+	2	686	c.45C>G	c.(43-45)ctC>ctG	p.L15L	ANKRD6_ENST00000485637.1_Silent_p.L15L|ANKRD6_ENST00000339746.4_Silent_p.L15L|RP11-16C18.3_ENST00000425588.1_RNA|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000369408.5_Silent_p.L15L|ANKRD6_ENST00000520793.1_Silent_p.L15L|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000447838.2_Silent_p.L15L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	15					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGCGCCTTCTCGTAGCTGCGT	0.493																																																	0													54	54	54					6																	90276740		1971	4160	6131	SO:0001819	synonymous_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.45C>G	6.37:g.90276740C>G			B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L15	ENST00000522441.1	37	c.45	CCDS56441.1	6																																																																																			ANKRD6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt		0.493	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1	C			90276740	1	no_errors	ENST00000339746	ensembl	human	known	70_37	silent	SNP	1.000	G	G	90276740	C	G	90276740	2	3	185	1	0	0	0	0	0	0	0	1	685	871	31	1		1	ANKRD6	6	90276740	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	485856	90276740	80838327	610	34885										
MDN1	23195	genome.wustl.edu	37	chr6	90422485	90422485	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgcaaagaagaaacatgtttCtccagtaaagcctgtacaag	8	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:90422485C>A	ENST00000369393.3	-	48	7354	c.7239G>T	c.(7237-7239)gaG>gaT	p.E2413D	MDN1_ENST00000428876.1_Missense_Mutation_p.E2413D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2413					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAACATGTTTCTCCAGTAAAG	0.443																																																	0													55	52	53					6																	90422485		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7239G>T	6.37:g.90422485C>A	ENSP00000358400:p.Glu2413Asp		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E2413D	ENST00000369393.3	37	c.7239	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404296	0.25378	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03524	3.9;3.9	5.62	4.5	0.54988	.	0.326514	0.32028	N	0.006692	T	0.00906	0.0030	N	0.19112	0.55	0.33667	D	0.610503	B	0.25667	0.131	B	0.18561	0.022	T	0.48875	-0.8996	10	0.14252	T	0.57	.	12.092	0.53733	0.0:0.8971:0.0:0.1029	.	2413	Q9NU22	MDN1_HUMAN	D	2413	ENSP00000358400:E2413D;ENSP00000413970:E2413D	ENSP00000358400:E2413D	E	-	3	2	MDN1	90479206	1.000000	0.71417	0.998000	0.56505	0.351000	0.29236	1.052000	0.30429	1.024000	0.39682	0.467000	0.42956	GAG	MDN1	-	pirsf_Midasin		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90422485	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90422485	C	A	90422485	3	1	185	1	0	0	0	0	1	0	0	0	9438	912	32	3	9771	3	MDN1	6	90422485	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	145745	90422485	80692582	611	34886										
MCHR2	84539	genome.wustl.edu	37	chr6	100403984	100403984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaggatttgtttaaaagttCggcagaggtgttccaacaag	11	7	0	1	rs142259467		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:100403984C>T	ENST00000281806.2	-	2	354	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	MCHR2_ENST00000369212.2_Missense_Mutation_p.E14K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E14K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTAAAAGTTCGGCAGAGGTG	0.388																																																	2	Substitution - Missense(2)	large_intestine(1)|skin(1)											144	145	145					6																	100403984		2203	4300	6503	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.40G>A	6.37:g.100403984C>T	ENSP00000281806:p.Glu14Lys		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.E14K	ENST00000281806.2	37	c.40	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320291	0.41096	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.69306	-0.39;-0.39;-0.39	4.86	3.98	0.46160	.	0.459428	0.18287	N	0.145830	T	0.25306	0.0615	L	0.27053	0.805	0.23325	N	0.9979	B	0.27853	0.191	B	0.15052	0.012	T	0.10245	-1.0638	10	0.06099	T	0.92	.	11.704	0.51587	0.0:0.9058:0.0:0.0942	.	14	Q969V1	MCHR2_HUMAN	K	14	ENSP00000403490:E14K;ENSP00000281806:E14K;ENSP00000358214:E14K	ENSP00000281806:E14K	E	-	1	0	MCHR2	100510705	0.715000	0.27946	0.967000	0.41034	0.528000	0.34623	1.606000	0.36826	2.386000	0.81285	0.561000	0.74099	GAA	MCHR2	-	prints_MCH2_receptor		0.388	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	C	NM_032503		100403984	-1	no_errors	ENST00000281806	ensembl	human	known	70_37	missense	SNP	0.912	T	T	100403984	C	T	100403984	3	4	185	1	0	0	0	0	1	0	0	0	9406	893	31	1	1002	1	MCHR2	6	100403984	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	9981499	100403984	70711083	612	34887										
ASCC3	10973	genome.wustl.edu	37	chr6	101315861	101315861	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgcaaggctcctgtgagacGaggtaaagccatctattatt	10	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:101315861G>C	ENST00000369162.2	-	2	357	c.13C>G	c.(13-15)Cgt>Ggt	p.R5G	ASCC3_ENST00000522650.1_Missense_Mutation_p.R5G|ASCC3_ENST00000369143.2_Missense_Mutation_p.R5G	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	5					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTGTGAGACGAGGTAAAGCC	0.373																																																	0													83	78	79					6																	101315861		2202	4300	6502	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.13C>G	6.37:g.101315861G>C	ENSP00000358159:p.Arg5Gly		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R5G	ENST00000369162.2	37	c.13	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575863	0.86645	.	.	ENSG00000112249	ENST00000369162;ENST00000522650;ENST00000324723;ENST00000369143	T;T;T	0.72282	-0.05;-0.64;-0.5	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	L	0.59436	1.845	0.43152	D	0.994923	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.931	T	0.80888	-0.1181	10	0.87932	D	0	.	19.1646	0.93551	0.0:0.0:1.0:0.0	.	5;5;5;5	Q4G1A0;Q9H5A2;E7EW23;Q8N3C0	.;.;.;HELC1_HUMAN	G	5	ENSP00000358159:R5G;ENSP00000430769:R5G;ENSP00000320777:R5G	ENSP00000320252:R5G	R	-	1	0	ASCC3	101422582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.739000	0.74827	2.824000	0.97209	0.655000	0.94253	CGT	ASCC3	-	NULL		0.373	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	G	NM_006828		101315861	-1	no_errors	ENST00000369162	ensembl	human	known	70_37	missense	SNP	1.000	C	C	101315861	G	C	101315861	3	2	185	1	0	0	0	0	1	0	0	0	1034	1058	37	1	6858	1	ASCC3	6	101315861	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	911877	101315861	69799206	613	34888										
ATG5	9474	genome.wustl.edu	37	chr6	106727617	106727617	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acttttatgttttaaagcatCagcttctttcatacatgaca	4	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:106727617C>T	ENST00000369076.3	-	5	720	c.397G>A	c.(397-399)Gat>Aat	p.D133N	ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.D55N|ATG5_ENST00000343245.3_Missense_Mutation_p.D133N	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	133					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TTTAAAGCATCAGCTTCTTTC	0.323																																																	0													106	100	102					6																	106727617		2203	4299	6502	SO:0001583	missense	9474			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"APG5 (autophagy 5, S. cerevisiae)-like", "APG5 autophagy 5-like (S. cerevisiae)", "ATG5 autophagy related 5 homolog (S. cerevisiae)"	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.397G>A	6.37:g.106727617C>T	ENSP00000358072:p.Asp133Asn		O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_5	p.D133N	ENST00000369076.3	37	c.397	CCDS5055.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.206289	0.95033	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.81497	2.545	0.80722	D	1	D;D;D	0.69078	0.988;0.997;0.988	D;D;D	0.63877	0.919;0.919;0.919	T	0.71879	-0.4459	9	0.23302	T	0.38	-8.6572	20.6593	0.99626	0.0:1.0:0.0:0.0	.	133;55;133	A9UGY9;Q9H1Y0-2;Q9H1Y0	.;.;ATG5_HUMAN	N	133;133;55	.	ENSP00000343313:D133N	D	-	1	0	ATG5	106834310	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.298000	0.78815	2.885000	0.99019	0.655000	0.94253	GAT	ATG5	-	pfam_Autophagy-rel_prot_5		0.323	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG5	HGNC	protein_coding	OTTHUMT00000043476.1	C	NM_004849		106727617	-1	no_errors	ENST00000343245	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106727617	C	T	106727617	3	4	185	1	0	0	0	0	1	0	0	0	1101	826	29	1	446	1	ATG5	6	106727617	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5411756	106727617	64387450	614	34889										
AKD1	221264	genome.wustl.edu	37	chr6	109931583	109931583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttacctctccaaggacttcCtgtaagatttcagcatgttt	6	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:109931583C>T	ENST00000424296.2	-	17	1903	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	AK9_ENST00000368948.2_Silent_p.Q609Q|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	609					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CAAGGACTTCCTGTAAGATTT	0.333																																																	0													128	106	113					6																	109931583		692	1591	2283	SO:0001819	synonymous_variant	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1827G>A	6.37:g.109931583C>T			A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.Q609	ENST00000424296.2	37	c.1827	CCDS55048.1	6																																																																																			AKD1	-	NULL		0.333	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128		109931583	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	silent	SNP	0.372	T	T	109931583	C	T	109931583	2	4	185	1	0	0	0	0	0	0	0	1	460	680	24	4		4	AKD1	6	109931583	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3203966	109931583	61183484	615	34890										
GTF3C6	112495	genome.wustl.edu	37	chr6	111288815	111288815	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agacgaagaagtggtagcttCagccccagataaatctttgg	11	8	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:111288815C>T	ENST00000329970.7	+	6	674	c.464C>T	c.(463-465)tCa>tTa	p.S155L	AL357515.1_ENST00000583422.1_RNA|GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	155					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		GTGGTAGCTTCAGCCCCAGAT	0.398																																																	0													107	112	110					6																	111288815		2203	4300	6503	SO:0001583	missense	112495			AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"General transcription factors"	20872	protein-coding gene	gene with protein product		611784	"chromosome 6 open reading frame 51"	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.464C>T	6.37:g.111288815C>T	ENSP00000357863:p.Ser155Leu		Q5VXN2	Missense_Mutation	SNP	pfam_TFIIIC_tau55-rel	p.S155L	ENST00000329970.7	37	c.464	CCDS5087.1	6	.	.	.	.	.	.	.	.	.	.	c	9.857	1.195200	0.22037	.	.	ENSG00000155115	ENST00000329970	.	.	.	5.15	3.03	0.35002	.	0.940382	0.08994	N	0.863997	T	0.13543	0.0328	N	0.19112	0.55	0.09310	N	0.999999	B	0.11235	0.004	B	0.04013	0.001	T	0.32375	-0.9909	9	0.49607	T	0.09	-22.6893	10.8176	0.46585	0.5292:0.4708:0.0:0.0	.	155	Q969F1	TF3C6_HUMAN	L	155	.	ENSP00000357863:S155L	S	+	2	0	GTF3C6	111395508	0.052000	0.20516	0.009000	0.14445	0.277000	0.26821	1.653000	0.37323	1.264000	0.44198	0.491000	0.48974	TCA	GTF3C6	-	NULL		0.398	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C6	HGNC	protein_coding	OTTHUMT00000041820.1	C	NM_138408		111288815	1	no_errors	ENST00000329970	ensembl	human	known	70_37	missense	SNP	0.422	T	T	111288815	C	T	111288815	3	4	185	1	0	0	0	0	1	0	0	0	6897	838	29	1	486	1	GTF3C6	6	111288815	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1357232	111288815	59826252	616	34891										
GTF3C6	112495	genome.wustl.edu	37	chr6	111288847	111288847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatctttggaattggaagagGaagagattcaaatgaacgac	11	4	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:111288847G>A	ENST00000329970.7	+	6	706	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	AL357515.1_ENST00000583422.1_RNA|GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	166					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		ATTGGAAGAGGAAGAGATTCA	0.388																																																	0													112	113	113					6																	111288847		2203	4300	6503	SO:0001583	missense	112495			AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"General transcription factors"	20872	protein-coding gene	gene with protein product		611784	"chromosome 6 open reading frame 51"	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.496G>A	6.37:g.111288847G>A	ENSP00000357863:p.Glu166Lys		Q5VXN2	Missense_Mutation	SNP	pfam_TFIIIC_tau55-rel	p.E166K	ENST00000329970.7	37	c.496	CCDS5087.1	6	.	.	.	.	.	.	.	.	.	.	g	12.89	2.074069	0.36566	.	.	ENSG00000155115	ENST00000329970	.	.	.	5.15	0.839	0.18907	.	1.121500	0.06572	N	0.748721	T	0.11067	0.0270	N	0.22421	0.69	0.23787	N	0.996843	B	0.23442	0.085	B	0.19666	0.026	T	0.34030	-0.9845	9	0.12103	T	0.63	-20.2914	12.3564	0.55178	0.106:0.3997:0.4944:0.0	.	166	Q969F1	TF3C6_HUMAN	K	166	.	ENSP00000357863:E166K	E	+	1	0	GTF3C6	111395540	0.838000	0.29461	0.608000	0.28969	0.901000	0.52897	0.842000	0.27627	0.228000	0.21019	-0.479000	0.04858	GAA	GTF3C6	-	NULL		0.388	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C6	HGNC	protein_coding	OTTHUMT00000041820.1	G	NM_138408		111288847	1	no_errors	ENST00000329970	ensembl	human	known	70_37	missense	SNP	0.733	A	A	111288847	G	A	111288847	3	1	185	1	0	0	0	0	1	0	0	0	6897	1175	41	1	518	1	GTF3C6	6	111288847	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	32	111288847	59826220	617	34892										
TRAF3IP2	10758	genome.wustl.edu	37	chr6	111912597	111912597	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgagggaactccctggacctGagaggtctggggaggtcctg	17	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:111912597G>C	ENST00000340026.6	-	3	1314	c.720C>G	c.(718-720)ctC>ctG	p.L240L	TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000368761.5_Silent_p.L231L			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	240	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572																																																	0													72	75	74					6																	111912597		2203	4300	6503	SO:0001819	synonymous_variant	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.720C>G	6.37:g.111912597G>C			B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	pfam_SEFIR	p.L240	ENST00000340026.6	37	c.720		6																																																																																			TRAF3IP2	-	NULL		0.572	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2	G			111912597	-1	no_errors	ENST00000340026	ensembl	human	known	70_37	silent	SNP	0.640	C	C	111912597	G	C	111912597	2	2	185	1	0	0	0	0	0	0	0	1	16472	1277	45	1		1	TRAF3IP2	6	111912597	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	623750	111912597	59202470	618	34893										
WISP3	8838	genome.wustl.edu	37	chr6	112389478	112389478	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acaaaatggactccctgctcCagaacatgtgggatgggaat	11	9	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:112389478C>A	ENST00000368666.2	+	4	946	c.660C>A	c.(658-660)tcC>tcA	p.S220S	TUBE1_ENST00000604814.1_5'Flank|WISP3_ENST00000361714.1_Silent_p.S238S|WISP3_ENST00000230529.5_Silent_p.S220S|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Silent_p.S197S|WISP3_ENST00000604763.1_Silent_p.S220S	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	220	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTCCCTGCTCCAGAACATGTG	0.383																																																	0													72	66	68					6																	112389478		2203	4300	6503	SO:0001819	synonymous_variant	8838			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.660C>A	6.37:g.112389478C>A			Q3KR29|Q5H8W4|Q6UXH6	Silent	SNP	pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt	p.S238	ENST00000368666.2	37	c.714	CCDS5098.1	6	.	.	.	.	.	.	.	.	.	.	C	9.176	1.022408	0.19433	.	.	ENSG00000112761	ENST00000541400	.	.	.	5.8	1.55	0.23275	.	.	.	.	.	T	0.52964	0.1767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57636	-0.7777	5	0.66056	D	0.02	.	10.1711	0.42911	0.0:0.6105:0.0:0.3895	.	.	.	.	Q	220	.	ENSP00000438104:P220Q	P	+	2	0	WISP3	112496171	0.987000	0.35691	1.000000	0.80357	0.968000	0.65278	0.280000	0.18790	0.385000	0.24970	-0.140000	0.14226	CCA	WISP3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt		0.383	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP3	HGNC	protein_coding	OTTHUMT00000041873.2	C	NM_003880		112389478	1	no_errors	ENST00000361714	ensembl	human	known	70_37	silent	SNP	0.997	A	A	112389478	C	A	112389478	2	1	185	1	0	0	0	0	0	0	0	1	17405	581	21	4		4	WISP3	6	112389478	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	476881	112389478	58725589	619	34894										
CLVS2	134829	genome.wustl.edu	37	chr6	123376999	123376999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtctacaccaactaattcatCctgagatcctgccctctgag	6	14	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:123376999C>A	ENST00000275162.5	+	5	2059	c.724C>A	c.(724-726)Cct>Act	p.P242T	CLVS2_ENST00000368438.1_Missense_Mutation_p.P96T	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	242	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTAATTCATCCTGAGATCCT	0.443																																																	0													185	158	167					6																	123376999		2203	4300	6503	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.724C>A	6.37:g.123376999C>A	ENSP00000275162:p.Pro242Thr		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.P242T	ENST00000275162.5	37	c.724	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	17.69	3.453059	0.63290	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.76448	-1.02;-1.02	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	L	0.57536	1.79	0.80722	D	1	B	0.29232	0.238	B	0.38225	0.268	T	0.71059	-0.4702	10	0.38643	T	0.18	-12.8029	20.2983	0.98569	0.0:1.0:0.0:0.0	.	242	Q5SYC1	CLVS2_HUMAN	T	242;96	ENSP00000275162:P242T;ENSP00000357423:P96T	ENSP00000275162:P242T	P	+	1	0	CLVS2	123418698	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.802000	0.96397	0.655000	0.94253	CCT	CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.443	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	C	NM_001010852		123376999	1	no_errors	ENST00000275162	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123376999	C	A	123376999	3	1	185	1	0	0	0	0	1	0	0	0	3577	855	30	3	738	3	CLVS2	6	123376999	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10987521	123376999	47738068	620	34895										
PTPRK	5796	genome.wustl.edu	37	chr6	128411102	128411102	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatccgtcttgcctgtatttCagcaatctttaatgtctttg	6	9	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:128411102C>G	ENST00000368215.3	-	8	1197	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	PTPRK_ENST00000532331.1_Missense_Mutation_p.E400Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.E400Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.E400Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.E400Q|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.E400Q|PTPRK_ENST00000368227.3_Missense_Mutation_p.E400Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	400	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCCTGTATTTCAGCAATCTTT	0.383																																																	0													107	102	104					6																	128411102		2203	4300	6503	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1198G>C	6.37:g.128411102C>G	ENSP00000357198:p.Glu400Gln		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E400Q	ENST00000368215.3	37	c.1198		6	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630199	0.67015	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.86	5.86	0.93980	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.105656	0.64402	D	0.000005	T	0.51295	0.1666	L	0.49126	1.545	0.51767	D	0.999939	P;P;P;D;B;P	0.60160	0.865;0.888;0.795;0.987;0.354;0.486	B;B;B;P;B;B	0.52066	0.174;0.365;0.389;0.689;0.03;0.067	T	0.35624	-0.9781	10	0.30078	T	0.28	.	20.1739	0.98173	0.0:1.0:0.0:0.0	.	400;400;400;257;400;400	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	Q	400;400;400;400;400;400;400;257	ENSP00000357209:E400Q;ENSP00000357210:E400Q;ENSP00000432973:E400Q;ENSP00000357196:E400Q;ENSP00000357193:E400Q;ENSP00000357198:E400Q;ENSP00000357190:E400Q	ENSP00000357190:E400Q	E	-	1	0	PTPRK	128452795	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.741000	0.68638	2.774000	0.95407	0.585000	0.79938	GAA	PTPRK	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128411102	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	1.000	G	G	128411102	C	G	128411102	3	3	185	1	0	0	0	0	1	0	0	0	12835	835	29	1	3238	1	PTPRK	6	128411102	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5034103	128411102	42703965	621	34896										
LAMA2	3908	genome.wustl.edu	37	chr6	129704375	129704375	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggagcttgcccgggatgcaGaaggtattagaaagaatcac	13	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:129704375G>A	ENST00000421865.2	+	35	5117	c.5068G>A	c.(5068-5070)Gaa>Aaa	p.E1690K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1690	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGGGATGCAGAAGGTATTAG	0.448																																																	0													64	67	66					6																	129704375		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5068G>A	6.37:g.129704375G>A	ENSP00000400365:p.Glu1690Lys		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1690K	ENST00000421865.2	37	c.5068	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938709	0.34189	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.08634	3.07	5.55	5.55	0.83447	Laminin I (1);	0.232801	0.43747	D	0.000538	T	0.02929	0.0087	L	0.32530	0.975	0.41349	D	0.987352	P;B	0.36086	0.536;0.364	B;B	0.34873	0.191;0.084	T	0.50448	-0.8827	10	0.15499	T	0.54	.	13.1289	0.59369	0.0736:0.0:0.9264:0.0	.	1690;1690	A6NF00;P24043	.;LAMA2_HUMAN	K	1690	ENSP00000400365:E1690K	ENSP00000346769:E1690K	E	+	1	0	LAMA2	129746068	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.436000	0.66538	2.770000	0.95276	0.563000	0.77884	GAA	LAMA2	-	pfam_Laminin_I		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129704375	1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129704375	G	A	129704375	3	1	185	1	0	0	0	0	1	0	0	0	8626	943	33	1	5206	1	LAMA2	6	129704375	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1293273	129704375	41410692	622	34897										
L3MBTL3	84456	genome.wustl.edu	37	chr6	130389552	130389552	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgctcctaagtcattatttGaaaatcagaatatagtaagt	6	6	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:130389552G>C	ENST00000529410.1	+	14	1557	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.E360Q|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.E335Q|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.E335Q|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.E335Q|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.E360Q			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	360					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GTCATTATTTGAAAATCAGAA	0.338																																																	0													90	92	91					6																	130389552		2203	4298	6501	SO:0001583	missense	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1078G>C	6.37:g.130389552G>C	ENSP00000431962:p.Glu360Gln		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.E360Q	ENST00000529410.1	37	c.1078	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	G	12.35	1.913120	0.33815	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.84	5.84	0.93424	.	0.170618	0.56097	D	0.000036	T	0.66858	0.2832	N	0.22421	0.69	0.37607	D	0.920783	D;P	0.54397	0.966;0.607	B;B	0.41412	0.356;0.059	T	0.69932	-0.5011	10	0.29301	T	0.29	.	13.3468	0.60578	0.0718:0.0:0.9282:0.0	.	335;360	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	Q	360;335;360;335;335;360	ENSP00000431962:E360Q;ENSP00000437185:E335Q;ENSP00000354526:E360Q;ENSP00000357121:E335Q;ENSP00000436706:E335Q;ENSP00000357118:E360Q	ENSP00000354526:E360Q	E	+	1	0	L3MBTL3	130431245	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.299000	0.51826	2.763000	0.94921	0.557000	0.71058	GAA	L3MBTL3	-	smart_Mbt,pfscan_Mbt		0.338	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	G	XM_027074		130389552	1	no_errors	ENST00000361794	ensembl	human	known	70_37	missense	SNP	1.000	C	C	130389552	G	C	130389552	3	2	185	1	0	0	0	0	1	0	0	0	8613	1291	45	1	1116	1	L3MBTL3	6	130389552	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	685177	130389552	40725515	623	34898										
MED23	9439	genome.wustl.edu	37	chr6	131919835	131919835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgacttccacttcctatactCctcctccacattttttttca	1	15	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:131919835C>T	ENST00000368068.3	-	19	2466	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K	MED23_ENST00000368053.4_Missense_Mutation_p.E769K|MED23_ENST00000368060.3_Missense_Mutation_p.E763K|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368058.1_Missense_Mutation_p.E769K|MED23_ENST00000545957.1_Missense_Mutation_p.E404K|MED23_ENST00000354577.4_Missense_Mutation_p.E769K|MED23_ENST00000403834.3_Missense_Mutation_p.E769K|MED23_ENST00000540546.1_Missense_Mutation_p.E769K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	763					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTCCTATACTCCTCCTCCACA	0.383																																																	0													176	169	171					6																	131919835		2203	4300	6503	SO:0001583	missense	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2287G>A	6.37:g.131919835C>T	ENSP00000357047:p.Glu763Lys		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.E769K	ENST00000368068.3	37	c.2305	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.680231	0.96774	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;1.0	D;D;D;D	0.91635	0.998;0.953;0.999;0.998	D	0.86018	0.1505	10	0.72032	D	0.01	-5.2559	20.6208	0.99490	0.0:1.0:0.0:0.0	.	404;769;763;769	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	K	769;763;769;763;769;404;769;769	ENSP00000346588:E769K;ENSP00000357047:E763K;ENSP00000384536:E769K;ENSP00000357039:E763K;ENSP00000357037:E769K;ENSP00000439977:E404K;ENSP00000357032:E769K;ENSP00000437818:E769K	ENSP00000346588:E769K	E	-	1	0	MED23	131961528	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAG	MED23	-	pfam_Mediator_Med23		0.383	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	C			131919835	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131919835	C	T	131919835	3	4	185	1	0	0	0	0	1	0	0	0	9464	864	30	1	1870	1	MED23	6	131919835	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1530283	131919835	39195232	624	34899										
VNN2	8875	genome.wustl.edu	37	chr6	133072503	133072503	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctgtactggaaatggtttGatggtggtggcgtaggcatt	15	4	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:133072503G>C	ENST00000326499.6	-	5	1105	c.981C>G	c.(979-981)atC>atG	p.I327M	VNN2_ENST00000525270.1_Missense_Mutation_p.I274M|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	327	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.I327I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAAATGGTTTGATGGTGGTGG	0.443																																																	1	Substitution - coding silent(1)	lung(1)											95	95	95					6																	133072503		2203	4300	6503	SO:0001583	missense	8875			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.981C>G	6.37:g.133072503G>C	ENSP00000322276:p.Ile327Met		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.I327M	ENST00000326499.6	37	c.981	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388191	0.25118	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.87966	-2.32;-2.32	5.42	0.353	0.16058	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.303544	0.26899	N	0.021935	T	0.70928	0.3280	M	0.80982	2.52	0.09310	N	1	P	0.35124	0.485	B	0.35859	0.212	T	0.62053	-0.6935	10	0.22109	T	0.4	.	3.1322	0.06428	0.1309:0.1111:0.3023:0.4557	.	327	O95498	VNN2_HUMAN	M	327;274	ENSP00000322276:I327M;ENSP00000436822:I274M	ENSP00000322276:I327M	I	-	3	3	VNN2	133114196	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.441000	0.02409	-0.157000	0.11059	0.650000	0.86243	ATC	VNN2	-	pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase		0.443	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	HGNC	protein_coding	OTTHUMT00000042264.2	G			133072503	-1	no_errors	ENST00000326499	ensembl	human	known	70_37	missense	SNP	0.000	C	C	133072503	G	C	133072503	3	2	185	1	0	0	0	0	1	0	0	0	17214	1280	45	1	593	1	VNN2	6	133072503	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1152668	133072503	38042564	625	34900										
BCLAF1	9774	genome.wustl.edu	37	chr6	136597209	136597209	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctttactgttattctttcaGaatttttgtcttcttctttg	4	7	6	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:136597209G>C	ENST00000531224.1	-	5	1706	c.1454C>G	c.(1453-1455)tCt>tGt	p.S485C	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S485C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S483C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S483C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S483C|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	485					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TATTCTTTCAGAATTTTTGTC	0.353																																					Colon(142;1534 1789 5427 7063 28491)												0													152	160	157					6																	136597209		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1454C>G	6.37:g.136597209G>C	ENSP00000435210:p.Ser485Cys		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.S485C	ENST00000531224.1	37	c.1454	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310816	0.60414	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37	5.22	5.22	0.72569	.	0.138115	0.38436	N	0.001692	T	0.16854	0.0405	N	0.08118	0	0.46478	D	0.999064	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.74023	0.982;0.947;0.982	T	0.39057	-0.9632	10	0.72032	D	0.01	-6.6885	19.2184	0.93786	0.0:0.0:1.0:0.0	.	483;483;485	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	C	485;483;485;483;483;485	ENSP00000435210:S485C;ENSP00000229446:S483C;ENSP00000435441:S485C;ENSP00000434826:S483C;ENSP00000376159:S483C;ENSP00000431734:S485C	ENSP00000229446:S483C	S	-	2	0	BCLAF1	136638902	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.100000	0.50275	2.628000	0.89032	0.454000	0.30748	TCT	BCLAF1	-	NULL		0.353	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	G	NM_014739		136597209	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	C	C	136597209	G	C	136597209	3	2	185	1	0	0	0	0	1	0	0	0	1384	942	33	1	1344	1	BCLAF1	6	136597209	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3524706	136597209	34517858	626	34901										
BCLAF1	9774	genome.wustl.edu	37	chr6	136599535	136599535	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttttttggtttgtttttcctGagaccctcgtcttttagaaa	7	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:136599535G>C	ENST00000531224.1	-	4	736	c.484C>G	c.(484-486)Cag>Gag	p.Q162E	BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q162E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q160E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q160E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q160E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q162E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	162					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGTTTTTCCTGAGACCCTCGT	0.433																																					Colon(142;1534 1789 5427 7063 28491)												0													185	197	193					6																	136599535		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.484C>G	6.37:g.136599535G>C	ENSP00000435210:p.Gln162Glu		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.Q162E	ENST00000531224.1	37	c.484	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	G	4.548	0.101689	0.08731	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55	5.64	5.64	0.86602	.	0.214043	0.32703	N	0.005748	T	0.03305	0.0096	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.18310	0.007;0.027;0.007;0.004	B;B;B;B	0.14023	0.01;0.01;0.01;0.01	T	0.25537	-1.0129	10	0.07813	T	0.8	-8.6728	10.3726	0.44064	0.0711:0.0:0.7928:0.136	.	160;160;162;162	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	E	162;160;162;162;160;160;162	ENSP00000435210:Q162E;ENSP00000229446:Q160E;ENSP00000435441:Q162E;ENSP00000436501:Q162E;ENSP00000434826:Q160E;ENSP00000376159:Q160E;ENSP00000431734:Q162E	ENSP00000229446:Q160E	Q	-	1	0	BCLAF1	136641228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.269000	0.58890	2.660000	0.90430	0.557000	0.71058	CAG	BCLAF1	-	NULL		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	G	NM_014739		136599535	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	C	C	136599535	G	C	136599535	3	2	185	1	0	0	0	0	1	0	0	0	1384	1299	45	1	2318	1	BCLAF1	6	136599535	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2326	136599535	34515532	627	34902										
MAP3K5	4217	genome.wustl.edu	37	chr6	136932511	136932511	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acaccactgtaggtattaatCaacacattgtcaccctagag	6	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:136932511C>G	ENST00000359015.4	-	18	2790	c.2430G>C	c.(2428-2430)ttG>ttC	p.L810F	MAP3K5_ENST00000355845.4_Missense_Mutation_p.L57F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	810	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGGTATTAATCAACACATTGT	0.368																																																	0													141	133	135					6																	136932511		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2430G>C	6.37:g.136932511C>G	ENSP00000351908:p.Leu810Phe		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L810F	ENST00000359015.4	37	c.2430	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445673	0.63178	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.57107	0.42;0.42	5.17	4.29	0.51040	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.066729	0.56097	D	0.000030	T	0.56834	0.2012	M	0.64997	1.995	0.54753	D	0.999988	D;D	0.76494	0.992;0.999	P;D	0.81914	0.901;0.995	T	0.61946	-0.6958	10	0.87932	D	0	.	6.6416	0.22913	0.3088:0.602:0.0:0.0892	.	890;810	Q59GL6;Q99683	.;M3K5_HUMAN	F	810;57;890	ENSP00000351908:L810F;ENSP00000348104:L57F	ENSP00000348104:L57F	L	-	3	2	MAP3K5	136974204	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.539000	0.36104	2.555000	0.86185	0.555000	0.69702	TTG	MAP3K5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.368	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	C			136932511	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	G	G	136932511	C	G	136932511	3	3	185	1	0	0	0	0	1	0	0	0	9276	825	29	1	1746	1	MAP3K5	6	136932511	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	332976	136932511	34182556	628	34903										
MAP3K5	4217	genome.wustl.edu	37	chr6	137026254	137026254	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aataaagtactcacagtattCttctggcaaattatttcctg	5	8	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:137026254C>G	ENST00000359015.4	-	3	966	c.606G>C	c.(604-606)aaG>aaC	p.K202N		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	202					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCACAGTATTCTTCTGGCAAA	0.239																																																	0													21	24	23					6																	137026254		2129	4221	6350	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.606G>C	6.37:g.137026254C>G	ENSP00000351908:p.Lys202Asn		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K202N	ENST00000359015.4	37	c.606	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382677	0.61845	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.72394	-0.65	4.73	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	M	0.72118	2.19	0.80722	D	1	D;D;P	0.89917	1.0;0.993;0.954	D;D;P	0.81914	0.995;0.911;0.745	T	0.75830	-0.3179	10	0.54805	T	0.06	.	9.9762	0.41786	0.0:0.8325:0.0:0.1675	.	282;47;202	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	N	202;282	ENSP00000351908:K202N	ENSP00000351908:K202N	K	-	3	2	MAP3K5	137067947	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.559000	0.45888	0.728000	0.32382	0.467000	0.42956	AAG	MAP3K5	-	NULL		0.239	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	C			137026254	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	G	G	137026254	C	G	137026254	3	3	185	1	0	0	0	0	1	0	0	0	9276	912	32	1	3630	1	MAP3K5	6	137026254	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	93743	137026254	34088813	629	34904										
SASH1	23328	genome.wustl.edu	37	chr6	148761536	148761536	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgtgtcaaccccagaagtgGaaagaaagtaagtctttctc	9	10	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:148761536G>C	ENST00000367467.3	+	4	854	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	SASH1_ENST00000367469.1_Missense_Mutation_p.E82Q|SASH1_ENST00000470750.1_3'UTR	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	127					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCAGAAGTGGAAAGAAAGTA	0.498																																																	0													107	98	101					6																	148761536		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.379G>C	6.37:g.148761536G>C	ENSP00000356437:p.Glu127Gln		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E127Q	ENST00000367467.3	37	c.379	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847972	0.91277	.	.	ENSG00000111961	ENST00000367469;ENST00000367467;ENST00000392284	T	0.14144	2.53	5.8	5.8	0.92144	.	0.175997	0.50627	D	0.000109	T	0.18173	0.0436	L	0.29908	0.895	0.41700	D	0.989397	D	0.76494	0.999	D	0.63488	0.915	T	0.01121	-1.1445	10	0.72032	D	0.01	-17.8368	18.2511	0.90004	0.0:0.0:1.0:0.0	.	127	O94885	SASH1_HUMAN	Q	82;127;81	ENSP00000356437:E127Q	ENSP00000356437:E127Q	E	+	1	0	SASH1	148803229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.488000	0.73637	2.744000	0.94065	0.655000	0.94253	GAA	SASH1	-	NULL		0.498	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	G	NM_015278		148761536	1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	1.000	C	C	148761536	G	C	148761536	3	2	185	1	0	0	0	0	1	0	0	0	13878	1175	41	1	393	1	SASH1	6	148761536	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11735282	148761536	22353531	630	34905										
LATS1	9113	genome.wustl.edu	37	chr6	150001486	150001486	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attcctagtgtctttatcttCacaaacatagacttgtccat	4	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:150001486C>A	ENST00000543571.1	-	5	2665	c.2118G>T	c.(2116-2118)gtG>gtT	p.V706V	LATS1_ENST00000253339.5_Silent_p.V706V|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCTTTATCTTCACAAACATAG	0.363																																																	0													94	102	99					6																	150001486		2203	4300	6503	SO:0001819	synonymous_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2118G>T	6.37:g.150001486C>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.V706	ENST00000543571.1	37	c.2118	CCDS34551.1	6																																																																																			LATS1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.363	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	C	NM_004690		150001486	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	silent	SNP	0.995	A	A	150001486	C	A	150001486	2	1	185	1	0	0	0	0	0	0	0	1	8666	813	29	3		3	LATS1	6	150001486	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1239950	150001486	21113581	631	34906										
LATS1	9113	genome.wustl.edu	37	chr6	150001559	150001559	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttttggcaaagcatctttCtcatttgatcctgggcatct	7	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:150001559C>G	ENST00000543571.1	-	5	2592	c.2045G>C	c.(2044-2046)aGa>aCa	p.R682T	LATS1_ENST00000253339.5_Missense_Mutation_p.R682T|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAGCATCTTTCTCATTTGATC	0.323																																																	0													80	87	85					6																	150001559		2198	4294	6492	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2045G>C	6.37:g.150001559C>G	ENSP00000437550:p.Arg682Thr			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.R682T	ENST00000543571.1	37	c.2045	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541582	0.85917	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.68025	-0.3;-0.3	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000007	T	0.80003	0.4544	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.66716	0.946	T	0.79422	-0.1810	9	.	.	.	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	682	O95835	LATS1_HUMAN	T	682	ENSP00000437550:R682T;ENSP00000253339:R682T	.	R	-	2	0	LATS1	150043252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.732000	0.93576	0.557000	0.71058	AGA	LATS1	-	NULL		0.323	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	C	NM_004690		150001559	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	G	G	150001559	C	G	150001559	3	3	185	1	0	0	0	0	1	0	0	0	8666	913	32	1	1363	1	LATS1	6	150001559	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	73	150001559	21113508	632	34907										
PLEKHG1	57480	genome.wustl.edu	37	chr6	151121928	151121928	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagggagcgtcaggaaactCtgaaacactcgctgcctctg	11	12	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:151121928C>G	ENST00000358517.2	+	6	914	c.703C>G	c.(703-705)Ctg>Gtg	p.L235V	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.L235V			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	235	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCAGGAAACTCTGAAACACTC	0.483																																																	0													125	123	124					6																	151121928		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.703C>G	6.37:g.151121928C>G	ENSP00000351318:p.Leu235Val		Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L235V	ENST00000358517.2	37	c.703	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506601	0.64410	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.63096	-0.02;-0.02	6.16	-0.267	0.12938	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	M	0.77616	2.38	0.58432	D	0.999997	D;D;D	0.60160	0.987;0.962;0.962	D;P;P	0.72075	0.976;0.842;0.842	T	0.77115	-0.2707	10	0.87932	D	0	.	15.5146	0.75812	0.0:0.7517:0.0:0.2483	.	42;235;235	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	V	235	ENSP00000356297:L235V;ENSP00000351318:L235V	ENSP00000351318:L235V	L	+	1	2	PLEKHG1	151163621	0.038000	0.19896	0.374000	0.26016	0.554000	0.35429	0.283000	0.18846	-0.164000	0.10927	0.650000	0.86243	CTG	PLEKHG1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.483	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	C			151121928	1	no_errors	ENST00000358517	ensembl	human	known	70_37	missense	SNP	0.994	G	G	151121928	C	G	151121928	3	3	185	1	0	0	0	0	1	0	0	0	12092	912	32	1	721	1	PLEKHG1	6	151121928	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1120369	151121928	19993139	633	34908										
SYNE1	23345	genome.wustl.edu	37	chr6	152599288	152599288	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcaggctccccttgagccttCtcagctttccagccagctgc	9	17	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:152599288C>T	ENST00000367255.5	-	98	19110	c.18509G>A	c.(18508-18510)aGa>aAa	p.R6170K	SYNE1_ENST00000341594.5_Missense_Mutation_p.R5782K|SYNE1_ENST00000356820.4_Missense_Mutation_p.R694K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6170K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6099K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6099K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6170					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R6170I(2)		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)		CTTGAGCCTTCTCAGCTTTCC	0.577										HNSCC(10;0.0054)																																							2	Substitution - Missense(2)	large_intestine(2)											105	108	107					6																	152599288		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18509G>A	6.37:g.152599288C>T	ENSP00000356224:p.Arg6170Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R6170K	ENST00000367255.5	37	c.18509	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311730	0.23821	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.54279	0.68;0.66;0.58;0.67;0.8;1.0	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000011	T	0.38081	0.1027	M	0.67953	2.075	0.40112	D	0.976509	B;B;B;B	0.27013	0.166;0.034;0.034;0.056	B;B;B;B	0.23275	0.026;0.02;0.02;0.045	T	0.35919	-0.9769	10	0.16896	T	0.51	.	19.2791	0.94044	0.0:1.0:0.0:0.0	.	585;6170;6170;6099	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	6170;6099;6170;6099;5782;694	ENSP00000356224:R6170K;ENSP00000396024:R6099K;ENSP00000265368:R6170K;ENSP00000390975:R6099K;ENSP00000341887:R5782K;ENSP00000349276:R694K	ENSP00000265368:R6170K	R	-	2	0	SYNE1	152640981	0.992000	0.36948	0.825000	0.32803	0.957000	0.61999	3.053000	0.49901	2.612000	0.88384	0.563000	0.77884	AGA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.577	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152599288	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.979	T	T	152599288	C	T	152599288	3	4	185	1	0	0	0	0	1	0	0	0	15475	913	32	1	8153	1	SYNE1	6	152599288	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1477360	152599288	18515779	634	34909										
TIAM2	26230	genome.wustl.edu	37	chr6	155458520	155458520	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcatgcgagagttggaaatGagcaggaccaacactgagaa	12	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:155458520G>C	ENST00000461783.3	+	7	2677	c.1404G>C	c.(1402-1404)atG>atC	p.M468I	TIAM2_ENST00000529824.2_Missense_Mutation_p.M468I|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.M468I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M468I|TIAM2_ENST00000456144.1_Missense_Mutation_p.M468I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	468					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGTTGGAAATGAGCAGGACCA	0.493																																																	0													105	113	110					6																	155458520		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1404G>C	6.37:g.155458520G>C	ENSP00000437188:p.Met468Ile		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.M468I	ENST00000461783.3	37	c.1404	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787250	0.31593	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05513	3.54;3.43;3.49;3.54;3.54;3.49	6.08	5.2	0.72013	.	0.181406	0.64402	N	0.000013	T	0.06096	0.0158	M	0.75264	2.295	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.04593	-1.0940	10	0.72032	D	0.01	.	17.1783	0.86848	0.0:0.1382:0.8618:0.0	.	468;468	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	I	468;714;468;468;468;468;468	ENSP00000437188:M468I;ENSP00000434901:M468I;ENSP00000407746:M468I;ENSP00000327315:M468I;ENSP00000353528:M468I;ENSP00000433348:M468I	ENSP00000327315:M468I	M	+	3	0	TIAM2	155500212	1.000000	0.71417	0.999000	0.59377	0.231000	0.25187	2.824000	0.48088	1.548000	0.49413	0.655000	0.94253	ATG	TIAM2	-	NULL		0.493	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	G	NM_012454		155458520	1	no_errors	ENST00000456144	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155458520	G	C	155458520	3	2	185	1	0	0	0	0	1	0	0	0	15921	1290	45	1	1410	1	TIAM2	6	155458520	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2859232	155458520	15656547	635	34910										
TIAM2	26230	genome.wustl.edu	37	chr6	155561820	155561820	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagtcatccaggagcttgtgGacacagagaagtcctacgtg	12	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:155561820G>C	ENST00000461783.3	+	18	4598	c.3325G>C	c.(3325-3327)Gac>Cac	p.D1109H	TIAM2_ENST00000529824.2_Missense_Mutation_p.D1109H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D485H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1109H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1133H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D445H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D421H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1109H|TIAM2_ENST00000275246.7_Missense_Mutation_p.D34H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1109	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGAGCTTGTGGACACAGAGAA	0.562																																																	0													51	50	50					6																	155561820		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3325G>C	6.37:g.155561820G>C	ENSP00000437188:p.Asp1109His		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.D1109H	ENST00000461783.3	37	c.3325	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844488	0.91197	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.09	5.09	0.68999	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	L	0.54863	1.705	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.97110	0.996;1.0;1.0;0.981	T	0.74657	-0.3592	10	0.87932	D	0	.	16.6758	0.85278	0.0:0.0:1.0:0.0	.	445;1109;1133;1109	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	H	1109;1355;1109;1109;1109;485;1133;1109;421;445;34;47	ENSP00000437188:D1109H;ENSP00000434901:D1109H;ENSP00000407746:D1109H;ENSP00000327315:D1109H;ENSP00000356142:D485H;ENSP00000353528:D1133H;ENSP00000433348:D1109H;ENSP00000407183:D421H;ENSP00000435335:D445H;ENSP00000275246:D34H;ENSP00000431269:D47H	ENSP00000275246:D34H	D	+	1	0	TIAM2	155603512	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.251000	0.95483	2.362000	0.80069	0.491000	0.48974	GAC	TIAM2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.562	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	G	NM_012454		155561820	1	no_errors	ENST00000456144	ensembl	human	known	70_37	missense	SNP	1.000	C	C	155561820	G	C	155561820	3	2	185	1	0	0	0	0	1	0	0	0	15921	1174	41	1	3375	1	TIAM2	6	155561820	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	103300	155561820	15553247	636	34911										
CLDN20	49861	genome.wustl.edu	37	chr6	155596973	155596973	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtggatgtggactccaacatCataacagccattgtacagct	9	10	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:155596973C>T	ENST00000367165.3	+	2	500	c.120C>T	c.(118-120)atC>atT	p.I40I	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	40					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		ACTCCAACATCATAACAGCCA	0.542																																																	0													124	108	114					6																	155596973		2203	4300	6503	SO:0001819	synonymous_variant	49861			BC020838	CCDS5249.1	6q25	2008-08-01			ENSG00000171217	ENSG00000171217		"Claudins"	2042	protein-coding gene	gene with protein product						16836752	Standard	NM_001001346		Approved		uc003qql.2	P56880	OTTHUMG00000015882	ENST00000367165.3:c.120C>T	6.37:g.155596973C>T				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.I40	ENST00000367165.3	37	c.120	CCDS5249.1	6																																																																																			CLDN20	-	pfam_PMP22/EMP/MP20/Claudin		0.542	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN20	HGNC	protein_coding	OTTHUMT00000042818.1	C	NM_001001346		155596973	1	no_errors	ENST00000367165	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155596973	C	T	155596973	2	4	185	1	0	0	0	0	0	0	0	1	3487	816	29	1		1	CLDN20	6	155596973	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	35153	155596973	15518094	637	34912										
EZR	7430	genome.wustl.edu	37	chr6	159210339	159210339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctgatcaaaaagctgttttCcagttgtatttggctggatt	9	7	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:159210339C>T	ENST00000367075.3	-	3	245	c.77G>A	c.(76-78)gGa>gAa	p.G26E	EZR_ENST00000337147.7_Missense_Mutation_p.G26E|EZR_ENST00000392177.4_Missense_Mutation_p.G26E|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	26	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		AAGCTGTTTTCCAGTTGTATT	0.383			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													100	92	95					6																	159210339		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.77G>A	6.37:g.159210339C>T	ENSP00000356042:p.Gly26Glu		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.G26E	ENST00000367075.3	37	c.77	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567782	0.86439	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83075	-1.68;-1.68;-1.68	4.78	4.78	0.61160	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97093	0.9792	10	0.87932	D	0	.	18.3526	0.90343	0.0:1.0:0.0:0.0	.	26;26	E7EQR4;P15311	.;EZRI_HUMAN	E	26	ENSP00000338934:G26E;ENSP00000356042:G26E;ENSP00000376016:G26E	ENSP00000338934:G26E	G	-	2	0	EZR	159130327	1.000000	0.71417	0.246000	0.24233	0.998000	0.95712	7.223000	0.78033	2.637000	0.89404	0.555000	0.69702	GGA	EZR	-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin		0.383	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159210339	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	0.999	T	T	159210339	C	T	159210339	3	4	185	1	0	0	0	0	1	0	0	0	5347	855	30	1	1731	1	EZR	6	159210339	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3613366	159210339	11904728	638	34913										
RPS6KA2	6196	genome.wustl.edu	37	chr6	166873007	166873007	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcctgcccactgctggtttGaacggtggcttgatctcctt	12	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:166873007G>C	ENST00000265678.4	-	12	1228	c.1005C>G	c.(1003-1005)ttC>ttG	p.F335L	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.F246L|RPS6KA2-IT1_ENST00000416770.1_RNA|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.F360L|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.F246L|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.F343L	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	335	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTGCTGGTTTGAACGGTGGCT	0.562																																																	0													188	140	156					6																	166873007		2203	4300	6503	SO:0001583	missense	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1005C>G	6.37:g.166873007G>C	ENSP00000265678:p.Phe335Leu		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F360L	ENST00000265678.4	37	c.1080	CCDS5294.1	6	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447887	0.63178	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.0	2.85	0.33270	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.93678	3.445	0.80722	D	1	D;P;D	0.56746	0.975;0.934;0.977	P;P;P	0.61658	0.762;0.522;0.892	T	0.73282	-0.4032	10	0.72032	D	0.01	.	8.968	0.35887	0.2703:0.0:0.7297:0.0	.	360;343;335	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	L	335;360;343;246;246	ENSP00000265678:F335L;ENSP00000422435:F360L;ENSP00000427015:F343L;ENSP00000422484:F246L;ENSP00000386050:F246L	ENSP00000265678:F335L	F	-	3	2	RPS6KA2	166792997	1.000000	0.71417	0.971000	0.41717	0.539000	0.34962	1.248000	0.32827	1.109000	0.41680	0.563000	0.77884	TTC	RPS6KA2	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II		0.562	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	G	NM_021135		166873007	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	missense	SNP	1.000	C	C	166873007	G	C	166873007	3	2	185	1	0	0	0	0	1	0	0	0	13681	1281	45	1	1236	1	RPS6KA2	6	166873007	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7662668	166873007	4242060	639	34914										
UNC93A	54346	genome.wustl.edu	37	chr6	167728877	167728877	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtggagtccaagaacccgatCagaccccacgctccaggaca	10	15	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:167728877C>G	ENST00000230256.3	+	8	1486	c.1311C>G	c.(1309-1311)atC>atG	p.I437M	UNC93A_ENST00000366829.2_Missense_Mutation_p.I395M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	437						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAACCCGATCAGACCCCACG	0.537																																																	0													187	202	197					6																	167728877		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1311C>G	6.37:g.167728877C>G	ENSP00000230256:p.Ile437Met		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.I437M	ENST00000230256.3	37	c.1311	CCDS5300.1	6	.	.	.	.	.	.	.	.	.	.	C	5.979	0.364532	0.11296	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.04809	3.55;3.55	3.86	0.876	0.19138	Major facilitator superfamily domain, general substrate transporter (1);	3.677010	0.02413	N	0.081866	T	0.01061	0.0035	N	0.22421	0.69	0.09310	N	1	B;B	0.23990	0.095;0.001	B;B	0.18561	0.022;0.003	T	0.45483	-0.9258	10	0.40728	T	0.16	0.1598	2.2705	0.04089	0.1587:0.3845:0.3122:0.1446	.	395;437	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	M	437;395	ENSP00000230256:I437M;ENSP00000355794:I395M	ENSP00000230256:I437M	I	+	3	3	UNC93A	167648867	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.307000	0.19296	0.230000	0.21059	-0.371000	0.07208	ATC	UNC93A	-	superfamily_MFS_dom_general_subst_transpt		0.537	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	C	NM_018974		167728877	1	no_errors	ENST00000230256	ensembl	human	known	70_37	missense	SNP	0.000	G	G	167728877	C	G	167728877	3	3	185	1	0	0	0	0	1	0	0	0	17027	816	29	1	1341	1	UNC93A	6	167728877	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	855870	167728877	3386190	640	34915										
C6orf70	55780	genome.wustl.edu	37	chr6	170169741	170169741	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcaaaagaaacaactaatCagttgcttgcattttctctt	4	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:170169741C>G	ENST00000366773.3	+	12	1198	c.1165C>G	c.(1165-1167)Cag>Gag	p.Q389E	ERMARD_ENST00000588451.1_Missense_Mutation_p.Q253E|ERMARD_ENST00000366772.2_Missense_Mutation_p.Q389E|ERMARD_ENST00000418781.3_Missense_Mutation_p.Q389E|RP1-266L20.9_ENST00000586101.1_RNA|ERMARD_ENST00000392095.4_Missense_Mutation_p.Q263E	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	389					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AACAACTAATCAGTTGCTTGC	0.378																																																	0													77	69	71					6																	170169741		2203	4300	6503	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1165C>G	6.37:g.170169741C>G	ENSP00000355735:p.Gln389Glu		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.Q389E	ENST00000366773.3	37	c.1165	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	.	9.514	1.106427	0.20632	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.46819	0.86;0.86	5.34	5.34	0.76211	.	0.104234	0.42964	D	0.000637	T	0.55970	0.1954	M	0.77616	2.38	0.09310	N	1	D;D;D	0.61697	0.975;0.99;0.979	P;D;B	0.72982	0.647;0.979;0.444	T	0.52268	-0.8598	10	0.29301	T	0.29	.	13.094	0.59180	0.0:0.9217:0.0:0.0783	.	389;389;389	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	E	389;389;389;263;37	ENSP00000355735:Q389E;ENSP00000375945:Q263E	ENSP00000355733:Q37E	Q	+	1	0	C6orf70	169911666	0.905000	0.30787	0.092000	0.20876	0.014000	0.08584	3.244000	0.51399	2.524000	0.85096	0.644000	0.83932	CAG	C6orf70	-	NULL		0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	HGNC	protein_coding	OTTHUMT00000043238.2	C	NM_018341		170169741	1	no_errors	ENST00000366773	ensembl	human	known	70_37	missense	SNP	0.228	G	G	170169741	C	G	170169741	3	3	185	1	0	0	0	0	1	0	0	0	2375	827	29	1	1211	1	C6orf70	6	170169741	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2440864	170169741	945326	641	34916										
FAM120B	84498	genome.wustl.edu	37	chr6	170626789	170626789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagagatgaatgggtgaaacGaaggctcaagaacaacaggg	15	5	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:170626789G>A	ENST00000476287.1	+	2	419	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.R116Q|FAM120B_ENST00000537664.1_Missense_Mutation_p.R127Q	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	104					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGGGTGAAACGAAGGCTCAAG	0.433																																																	0													89	85	86					6																	170626789		2203	4300	6503	SO:0001583	missense	84498			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.311G>A	6.37:g.170626789G>A	ENSP00000417970:p.Arg104Gln		B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	NULL	p.R127Q	ENST00000476287.1	37	c.380	CCDS5314.1	6	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433132	0.83776	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.57595	0.39;0.39;0.39	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67150	-0.5743	10	0.51188	T	0.08	-17.5851	19.4782	0.94998	0.0:0.0:1.0:0.0	.	104;104	Q96EK7;F2Z2E1	F120B_HUMAN;.	Q	116;127;104	ENSP00000444125:R116Q;ENSP00000440125:R127Q;ENSP00000417970:R104Q	ENSP00000436640:R104Q	R	+	2	0	FAM120B	170468714	1.000000	0.71417	0.553000	0.28255	0.485000	0.33311	8.700000	0.91322	2.838000	0.97847	0.655000	0.94253	CGA	FAM120B	-	NULL		0.433	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	G	NM_032448		170626789	1	no_errors	ENST00000537664	ensembl	human	known	70_37	missense	SNP	0.999	A	A	170626789	G	A	170626789	3	1	185	1	0	0	0	0	1	0	0	0	5432	1058	37	1	313	1	FAM120B	6	170626789	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	457048	170626789	488278	642	34917										
PSMB1	5689	genome.wustl.edu	37	chr6	170844466	170844466	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaggacagcggaacatgctCcacattctgcatgttcttaa	8	11	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr6:170844466C>G	ENST00000262193.6	-	6	666	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	190					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GGAACATGCTCCACATTCTGC	0.493																																																	0													88	68	75					6																	170844466		2203	4300	6503	SO:0001583	missense	5689			D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"Proteasome (prosome, macropain) subunits"	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.568G>C	6.37:g.170844466C>G	ENSP00000262193:p.Glu190Gln		B5BU76|Q9BWA8	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.E190Q	ENST00000262193.6	37	c.568	CCDS34577.1	6	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574279	0.28092	.	.	ENSG00000008018	ENST00000262193	T	0.45668	0.89	5.48	5.48	0.80851	.	0.103513	0.64402	D	0.000004	T	0.16557	0.0398	N	0.25992	0.78	0.58432	D	0.999998	B	0.16166	0.016	B	0.09377	0.004	T	0.05289	-1.0894	10	0.17832	T	0.49	-35.4508	15.7201	0.77700	0.0:0.8634:0.1366:0.0	.	190	P20618	PSB1_HUMAN	Q	190	ENSP00000262193:E190Q	ENSP00000262193:E190Q	E	-	1	0	PSMB1	170686391	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	2.050000	0.41297	2.579000	0.87056	0.555000	0.69702	GAG	PSMB1	-	pfam_Proteasome_sua/b		0.493	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB1	HGNC	protein_coding	OTTHUMT00000043278.2	C	NM_002793		170844466	-1	no_errors	ENST00000262193	ensembl	human	known	70_37	missense	SNP	1.000	G	G	170844466	C	G	170844466	3	3	185	1	0	0	0	0	1	0	0	0	12701	864	30	1	161	1	PSMB1	6	170844466	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	217677	170844466	270601	643	34918										
GET4	51608	genome.wustl.edu	37	chr7	933395	933395	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtgggaagctgacggtgttCactgtgctgtgtgagcagta	16	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:933395C>T	ENST00000265857.3	+	7	859	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GET4_ENST00000407192.1_Silent_p.F202F	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	255					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGACGGTGTTCACTGTGCTGT	0.637																																																	0													109	71	84					7																	933395		2202	4297	6499	SO:0001819	synonymous_variant	51608			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"CGI-20 protein", "conserved edge protein", "transmembrane domain recognition complex, 35kDa"	612056	"chromosome 7 open reading frame 20"	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.765C>T	7.37:g.933395C>T			A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Silent	SNP	pfam_UPF0363	p.F255	ENST00000265857.3	37	c.765	CCDS5317.1	7																																																																																			GET4	-	pfam_UPF0363		0.637	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GET4	HGNC	protein_coding	OTTHUMT00000231930.1	C	NM_015949		933395	1	no_errors	ENST00000265857	ensembl	human	known	70_37	silent	SNP	1.000	T	T	933395	C	T	933395	2	4	185	1	0	0	0	0	0	0	0	1	6355	825	29	1		1	GET4	7	933395	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		933395	158205268	644	34919										
GNA12	2768	genome.wustl.edu	37	chr7	2883556	2883556	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggtcgaactcgcggccgtgGatgatgcgcatctgcttgag	15	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:2883556G>C	ENST00000275364.3	-	1	402	c.240C>G	c.(238-240)atC>atG	p.I80M	GNA12_ENST00000544127.1_Missense_Mutation_p.I4M	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	80					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CGCGGCCGTGGATGATGCGCA	0.687																																																	0													32	27	29					7																	2883556		2203	4300	6503	SO:0001583	missense	2768			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.240C>G	7.37:g.2883556G>C	ENSP00000275364:p.Ile80Met		A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.I80M	ENST00000275364.3	37	c.240	CCDS5335.1	7	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515516	0.27123	.	.	ENSG00000146535	ENST00000275364;ENST00000544127	D;D	0.89050	-2.46;-2.46	2.68	0.466	0.16716	G protein alpha subunit, helical insertion (1);	0.188956	0.44097	D	0.000495	D	0.94152	0.8124	M	0.90977	3.165	0.80722	D	1	P;D	0.54397	0.71;0.966	P;D	0.67900	0.642;0.954	D	0.93639	0.6963	10	0.87932	D	0	.	10.6037	0.45381	0.0:0.0:0.6591:0.3409	.	80;80	Q5PPR5;Q03113	.;GNA12_HUMAN	M	80;4	ENSP00000275364:I80M;ENSP00000437469:I4M	ENSP00000275364:I80M	I	-	3	3	GNA12	2850082	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	2.824000	0.48088	0.451000	0.26802	-0.534000	0.04291	ATC	GNA12	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.687	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	G	NM_007353		2883556	-1	no_errors	ENST00000275364	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2883556	G	C	2883556	3	2	185	1	0	0	0	0	1	0	0	0	6519	1164	41	1	921	1	GNA12	7	2883556	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1950161	2883556	156255107	645	34920										
KIAA0415	9907	genome.wustl.edu	37	chr7	4820830	4820830	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atccaggacgaggagctgaaGaagttctgttcccggatctg	13	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:4820830G>A	ENST00000348624.4	+	2	160	c.66G>A	c.(64-66)aaG>aaA	p.K22K	AP5Z1_ENST00000401897.1_Silent_p.K22K	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	22					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGGAGCTGAAGAAGTTCTGTT	0.552																																																	0													58	63	62					7																	4820830		1938	4149	6087	SO:0001819	synonymous_variant	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.66G>A	7.37:g.4820830G>A			Q8N3X2|Q96H80	Silent	SNP	NULL	p.K22	ENST00000348624.4	37	c.66	CCDS47528.1	7																																																																																			AP5Z1	-	NULL		0.552	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	G			4820830	1	no_errors	ENST00000348624	ensembl	human	known	70_37	silent	SNP	0.000	A	A	4820830	G	A	4820830	2	1	185	1	0	0	0	0	0	0	0	1	8195	933	33	1		1	KIAA0415	7	4820830	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1937274	4820830	154317833	646	34921										
ACTB	60	genome.wustl.edu	37	chr7	5567464	5567464	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctgctggaaggtggacagcGaggccaggatggagccgccg	18	10	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:5567464G>C	ENST00000331789.5	-	6	1234	c.1043C>G	c.(1042-1044)tCg>tGg	p.S348W	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	348					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			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)		GGTGGACAGCGAGGCCAGGAT	0.587																																																	0													71	74	73					7																	5567464		2203	4300	6503	SO:0001583	missense	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1043C>G	7.37:g.5567464G>C	ENSP00000349960:p.Ser348Trp		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S348W	ENST00000331789.5	37	c.1043	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005489	0.54254	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95588	-3.75	5.55	4.66	0.58398	.	0.000000	0.53938	D	0.000041	D	0.98782	0.9590	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98652	1.0680	10	0.87932	D	0	.	13.966	0.64209	0.0744:0.0:0.9255:0.0	.	348	P60709	ACTB_HUMAN	W	348;324;320;267	ENSP00000349960:S348W	ENSP00000440549:S267W	S	-	2	0	ACTB	5533990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.659000	0.83766	2.617000	0.88574	0.650000	0.86243	TCG	ACTB	-	pfam_Actin-like,smart_Actin-like		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	G	NM_001101		5567464	-1	no_errors	ENST00000331789	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5567464	G	C	5567464	3	2	185	1	0	0	0	0	1	0	0	0	193	1059	37	1	88	1	ACTB	7	5567464	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	746634	5567464	153571199	647	34922										
EIF2AK1	27102	genome.wustl.edu	37	chr7	6068307	6068307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtacagacaagtacccactCtggacgtatgtgttggtgtt	11	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:6068307C>G	ENST00000199389.6	-	13	1615	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.R366T|ANKRD61_ENST00000409061.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGTACCCACTCTGGACGTATG	0.403																																																	0													195	157	170					7																	6068307		2203	4300	6503	SO:0001583	missense	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1469G>C	7.37:g.6068307C>G	ENSP00000199389:p.Arg490Thr		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R490T	ENST00000199389.6	37	c.1469	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426632	0.25726	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.24151	1.99;1.87	5.28	3.48	0.39840	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170175	0.50627	D	0.000105	T	0.17577	0.0422	L	0.28776	0.89	0.31219	N	0.69772	B;B;B	0.32573	0.376;0.33;0.007	B;B;B	0.33960	0.173;0.086;0.044	T	0.14254	-1.0479	10	0.14656	T	0.56	-6.9668	11.6609	0.51345	0.0:0.8682:0.0:0.1318	.	366;489;490	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	T	490;366;117	ENSP00000199389:R490T;ENSP00000445784:R366T	ENSP00000199389:R490T	R	-	2	0	EIF2AK1	6034833	1.000000	0.71417	0.890000	0.34922	0.991000	0.79684	5.501000	0.66950	0.622000	0.30249	0.550000	0.68814	AGA	EIF2AK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.403	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	C	NM_014413		6068307	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6068307	C	G	6068307	3	3	185	1	0	0	0	0	1	0	0	0	5006	913	32	1	435	1	EIF2AK1	7	6068307	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	500843	6068307	153070356	648	34923										
ZNF12	7559	genome.wustl.edu	37	chr7	6731194	6731194	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attcatagggtttctctcctGaatgagttctataatgtaca	7	7	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:6731194G>A	ENST00000405858.1	-	5	1920	c.1379C>T	c.(1378-1380)tCa>tTa	p.S460L	ZNF12_ENST00000404360.1_Missense_Mutation_p.S386L|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.S422L	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	460					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTTCTCTCCTGAATGAGTTCT	0.423																																																	0													78	85	83					7																	6731194		2196	4298	6494	SO:0001583	missense	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1379C>T	7.37:g.6731194G>A	ENSP00000385939:p.Ser460Leu		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S460L	ENST00000405858.1	37	c.1379	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092107	0.36952	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.18960	2.18;2.18;2.18	4.0	1.19	0.21007	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33980	N	0.004379	T	0.18045	0.0433	L	0.52573	1.65	0.31775	N	0.631659	B;B	0.12013	0.005;0.002	B;B	0.14023	0.01;0.004	T	0.10497	-1.0627	10	0.87932	D	0	.	8.3063	0.32045	0.2739:0.0:0.7261:0.0	.	460;422	P17014;P17014-5	ZNF12_HUMAN;.	L	386;460;422;518;422	ENSP00000384405:S386L;ENSP00000385939:S460L;ENSP00000344745:S422L	ENSP00000331039:S422L	S	-	2	0	ZNF12	6697719	0.978000	0.34361	0.935000	0.37517	0.999000	0.98932	1.808000	0.38912	0.259000	0.21709	0.655000	0.94253	TCA	ZNF12	-	pfscan_Znf_C2H2		0.423	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6731194	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	missense	SNP	0.996	A	A	6731194	G	A	6731194	3	1	185	1	0	0	0	0	1	0	0	0	17748	1294	45	1	718	1	ZNF12	7	6731194	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	662887	6731194	152407469	649	34924										
ETV1	2115	genome.wustl.edu	37	chr7	13971147	13971147	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgagtcatatgcaaaatctCtgggttcctgtttaatcatc	7	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:13971147C>T	ENST00000430479.1	-	9	1449	c.782G>A	c.(781-783)aGa>aAa	p.R261K	ETV1_ENST00000405192.2_Missense_Mutation_p.R261K|ETV1_ENST00000399357.3_Missense_Mutation_p.R158K|ETV1_ENST00000343495.5_Missense_Mutation_p.R243K|ETV1_ENST00000405358.4_Missense_Mutation_p.R275K|ETV1_ENST00000405218.2_Missense_Mutation_p.R261K|ETV1_ENST00000242066.5_Missense_Mutation_p.R243K|ETV1_ENST00000403527.1_Missense_Mutation_p.R221K|ETV1_ENST00000420159.2_Missense_Mutation_p.R203K|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Missense_Mutation_p.R243K	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	261					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGCAAAATCTCTGGGTTCCTG	0.493			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																			Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	0													80	80	80					7																	13971147		1922	4105	6027	SO:0001583	missense	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.782G>A	7.37:g.13971147C>T	ENSP00000405327:p.Arg261Lys		A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.R261K	ENST00000430479.1	37	c.782	CCDS55088.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.641182	0.96693	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.222920	0.52532	D	0.000076	T	0.52565	0.1742	M	0.66939	2.045	0.80722	D	1	P;D;D;D;D;D;P;D	0.63046	0.906;0.991;0.992;0.959;0.962;0.967;0.938;0.988	P;P;D;D;D;D;P;P	0.76071	0.542;0.885;0.987;0.937;0.987;0.963;0.625;0.876	T	0.27773	-1.0064	10	0.39692	T	0.17	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	272;243;275;203;158;221;203;261	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	K	261;243;243;203;158;261;275;221;261;243;203;158	ENSP00000405327:R261K;ENSP00000242066:R243K;ENSP00000340853:R243K;ENSP00000411626:R203K;ENSP00000382293:R158K;ENSP00000385381:R261K;ENSP00000384085:R275K;ENSP00000384138:R221K;ENSP00000385551:R261K;ENSP00000385686:R243K;ENSP00000393078:R203K;ENSP00000394710:R158K	ENSP00000242066:R243K	R	-	2	0	ETV1	13937672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.291000	0.78721	2.932000	0.99384	0.644000	0.83932	AGA	ETV1	-	pfam_ETS_PEA3_N		0.493	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ETV1	HGNC	protein_coding	OTTHUMT00000326111.1	C	NM_004956		13971147	-1	no_errors	ENST00000405218	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13971147	C	T	13971147	3	4	185	1	0	0	0	0	1	0	0	0	5289	913	32	1	675	1	ETV1	7	13971147	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7239953	13971147	145167516	650	34925										
ITGB8	3696	genome.wustl.edu	37	chr7	20420367	20420367	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagaacatcactgagtttgaGaaagcagttcatagacagaa	10	6	2	5	rs370739263		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:20420367G>C	ENST00000222573.4	+	5	1398	c.714G>C	c.(712-714)gaG>gaC	p.E238D	ITGB8_ENST00000537992.1_Missense_Mutation_p.E103D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	238	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTGAGTTTGAGAAAGCAGTTC	0.443																																																	0								G	ASP/GLU	0,4406		0,0,2203	133	121	125		714	1.1	1	7		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGB8	NM_002214.2	45	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging	238/770	20420367	1,13005	2203	4300	6503	SO:0001583	missense	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.714G>C	7.37:g.20420367G>C	ENSP00000222573:p.Glu238Asp		A4D133|B4DHD4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.E238D	ENST00000222573.4	37	c.714	CCDS5370.1	7	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822958	0.50739	0.0	1.16E-4	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.92752	-3.1;-3.1	6.07	1.07	0.20283	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.236221	0.37857	N	0.001911	D	0.88808	0.6537	L	0.42245	1.32	0.09310	N	0.999995	P;P	0.43578	0.807;0.811	P;P	0.45753	0.475;0.492	T	0.81093	-0.1089	10	0.45353	T	0.12	.	10.0273	0.42079	0.6707:0.0:0.3293:0.0	.	238;238	P26012;Q9BUG9	ITB8_HUMAN;.	D	103;238	ENSP00000441561:E103D;ENSP00000222573:E238D	ENSP00000222573:E238D	E	+	3	2	ITGB8	20386892	0.595000	0.26857	0.984000	0.44739	0.914000	0.54420	-0.049000	0.11924	-0.049000	0.13379	-0.136000	0.14681	GAG	ITGB8	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.443	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB8	HGNC	protein_coding	OTTHUMT00000059915.3	G	NM_002214		20420367	1	no_errors	ENST00000222573	ensembl	human	known	70_37	missense	SNP	0.048	C	C	20420367	G	C	20420367	3	2	185	1	0	0	0	0	1	0	0	0	7921	933	33	1	732	1	ITGB8	7	20420367	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6449220	20420367	138718296	651	34926										
OSBPL3	26031	genome.wustl.edu	37	chr7	24910400	24910400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaggtctatgcattttgatGacttctttacagacatcact	6	9	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:24910400G>A	ENST00000313367.2	-	5	783	c.332C>T	c.(331-333)tCa>tTa	p.S111L	OSBPL3_ENST00000353930.1_Missense_Mutation_p.S111L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S111L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S111L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.S111L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S111L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S111L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	111	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCATTTTGATGACTTCTTTAC	0.498																																																	0													181	140	154					7																	24910400		2203	4300	6503	SO:0001583	missense	26031			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.332C>T	7.37:g.24910400G>A	ENSP00000315410:p.Ser111Leu		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S111L	ENST00000313367.2	37	c.332	CCDS5390.1	7	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680791	0.88542	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069;ENST00000415162	T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.180542	0.49916	D	0.000121	T	0.24699	0.0599	L	0.41492	1.28	0.44643	D	0.997629	P;P;P;P	0.51933	0.837;0.936;0.936;0.949	P;P;P;P	0.58620	0.637;0.755;0.637;0.842	T	0.00050	-1.2197	10	0.87932	D	0	-13.1539	20.2963	0.98556	0.0:0.0:1.0:0.0	.	111;111;111;111	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	L	111	ENSP00000315410:S111L;ENSP00000315331:S111L;ENSP00000315277:S111L;ENSP00000389779:S111L;ENSP00000379708:S111L;ENSP00000379706:S111L;ENSP00000386953:S111L	ENSP00000315410:S111L	S	-	2	0	OSBPL3	24876925	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.121000	0.57904	2.813000	0.96785	0.655000	0.94253	TCA	OSBPL3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.498	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	G			24910400	-1	no_errors	ENST00000313367	ensembl	human	known	70_37	missense	SNP	0.994	A	A	24910400	G	A	24910400	3	1	185	1	0	0	0	0	1	0	0	0	11303	1294	45	1	2407	1	OSBPL3	7	24910400	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4490033	24910400	134228263	652	34927										
NPSR1	387129	genome.wustl.edu	37	chr7	34889232	34889232	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggagagaactgagaggcatGagatgcagattctgtccaag	15	6	1	4	rs144899362		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:34889232G>A	ENST00000360581.1	+	9	1209	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	NPSR1_ENST00000381542.1_Missense_Mutation_p.E295K|NPSR1_ENST00000381539.3_3'UTR|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000531252.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	361						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGAGAGGCATGAGATGCAGAT	0.498																																																	0													129	115	120					7																	34889232		2203	4300	6503	SO:0001583	missense	387129			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.1081G>A	7.37:g.34889232G>A	ENSP00000353788:p.Glu361Lys		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt	p.E361K	ENST00000360581.1	37	c.1081	CCDS5444.1	7	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382053	0.61845	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000334481	T;T	0.75589	-0.74;-0.95	5.24	5.24	0.73138	.	.	.	.	.	T	0.74854	0.3771	M	0.62723	1.935	0.80722	D	1	P;P	0.50156	0.932;0.666	P;B	0.47402	0.546;0.112	T	0.70970	-0.4727	9	0.18276	T	0.48	.	15.2097	0.73209	0.0:0.1409:0.8591:0.0	.	295;361	Q6W5P4-2;Q6W5P4	.;NPSR1_HUMAN	K	361;295;164	ENSP00000353788:E361K;ENSP00000370953:E295K	ENSP00000334093:E164K	E	+	1	0	NPSR1	34855757	1.000000	0.71417	0.974000	0.42286	0.304000	0.27724	3.484000	0.53201	2.730000	0.93505	0.555000	0.69702	GAG	NPSR1	-	NULL		0.498	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPSR1	HGNC	protein_coding	OTTHUMT00000216837.1	G	NM_207173		34889232	1	no_errors	ENST00000360581	ensembl	human	known	70_37	missense	SNP	0.985	A	A	34889232	G	A	34889232	3	1	185	1	0	0	0	0	1	0	0	0	10624	1291	45	1	1115	1	NPSR1	7	34889232	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9978832	34889232	124249431	653	34928										
CAMK2B	816	genome.wustl.edu	37	chr7	44268519	44268519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcaggatgtcagagatcctGggggctggggtggaacagat	17	6	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:44268519G>A	ENST00000395749.2	-	19	1420	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000358707.3_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	448					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CAGAGATCCTGGGGGCTGGGG	0.657																																																	0													19	21	20					7																	44268519		2182	4274	6456	SO:0001819	synonymous_variant	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1344C>T	7.37:g.44268519G>A			A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P448	ENST00000395749.2	37	c.1344	CCDS5483.1	7																																																																																			CAMK2B	-	superfamily_Kinase-like_dom		0.657	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	G	NM_172084		44268519	-1	no_errors	ENST00000395749	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44268519	G	A	44268519	2	1	185	1	0	0	0	0	0	0	0	1	2605	1335	47	4		4	CAMK2B	7	44268519	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9379287	44268519	114870144	654	34929										
NPC1L1	29881	genome.wustl.edu	37	chr7	44578916	44578916	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccaaggccaccaccgggatGacagatagcaccaagatggt	12	12	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:44578916G>A	ENST00000289547.4	-	2	1135	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V	NPC1L1_ENST00000381160.3_Silent_p.V360V|NPC1L1_ENST00000546276.1_Silent_p.V360V|NPC1L1_ENST00000423141.1_Silent_p.V360V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	360					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCACCGGGATGACAGATAGCA	0.627																																																	0													91	92	92					7																	44578916		2203	4300	6503	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1080C>T	7.37:g.44578916G>A			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.V360	ENST00000289547.4	37	c.1080	CCDS5491.1	7																																																																																			NPC1L1	-	NULL		0.627	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	G	NM_013389		44578916	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	silent	SNP	0.000	A	A	44578916	G	A	44578916	2	1	185	1	0	0	0	0	0	0	0	1	10595	1277	45	1		1	NPC1L1	7	44578916	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	310397	44578916	114559747	655	34930										
OGDH	4967	genome.wustl.edu	37	chr7	44736529	44736529	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcagggctgagccggatcttGaagactcgtggggaaatggt	17	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:44736529G>C	ENST00000222673.5	+	15	1959	c.1917G>C	c.(1915-1917)ttG>ttC	p.L639F	OGDH_ENST00000449767.1_Missense_Mutation_p.L635F|OGDH_ENST00000444676.1_Missense_Mutation_p.L654F|OGDH_ENST00000543843.1_Missense_Mutation_p.L590F|OGDH_ENST00000439616.2_Missense_Mutation_p.L489F|OGDH_ENST00000447398.1_Missense_Mutation_p.L650F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	639					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GCCGGATCTTGAAGACTCGTG	0.607																																																	0													73	61	65					7																	44736529		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1917G>C	7.37:g.44736529G>C	ENSP00000222673:p.Leu639Phe		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.L639F	ENST00000222673.5	37	c.1917	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738422	0.69304	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	4.86	3.96	0.45880	.	0.000000	0.64402	D	0.000001	D	0.95329	0.8484	M	0.86420	2.815	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.76575	0.984;0.988;0.984;0.984;0.984;0.984	D	0.94438	0.7656	10	0.56958	D	0.05	-19.1485	6.879	0.24163	0.1512:0.1521:0.6968:0.0	.	434;489;635;650;541;639	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	F	489;635;650;654;639;590	ENSP00000398576:L489F;ENSP00000392878:L635F;ENSP00000388183:L650F;ENSP00000414662:L654F;ENSP00000222673:L639F;ENSP00000443821:L590F	ENSP00000222673:L639F	L	+	3	2	OGDH	44703054	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.090000	0.41682	2.492000	0.84095	0.650000	0.86243	TTG	OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.607	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	G			44736529	1	no_errors	ENST00000222673	ensembl	human	known	70_37	missense	SNP	1.000	C	C	44736529	G	C	44736529	3	2	185	1	0	0	0	0	1	0	0	0	10863	1281	45	1	2144	1	OGDH	7	44736529	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	157613	44736529	114402134	656	34931										
PKD1L1	168507	genome.wustl.edu	37	chr7	47897295	47897295	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgtgtctccgccccagcagGactgtgcccagcaaggtcac	11	16	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:47897295G>C	ENST00000289672.2	-	28	4548	c.4498C>G	c.(4498-4500)Cct>Gct	p.P1500A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1500	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCCAGCAGGACTGTGCCCA	0.552																																																	0													76	76	76					7																	47897295		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4498C>G	7.37:g.47897295G>C	ENSP00000289672:p.Pro1500Ala		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.P1500A	ENST00000289672.2	37	c.4498	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	G	7.316	0.616027	0.14129	.	.	ENSG00000158683	ENST00000289672	T	0.18810	2.19	5.22	-0.813	0.10850	Egg jelly receptor, REJ-like (1);	0.750350	0.11233	N	0.585386	T	0.11452	0.0279	L	0.51422	1.61	0.09310	N	1	P	0.43788	0.817	B	0.36666	0.23	T	0.17837	-1.0356	10	0.08179	T	0.78	-5.3764	1.6422	0.02755	0.1794:0.1351:0.4103:0.2752	.	1500	Q8TDX9	PK1L1_HUMAN	A	1500	ENSP00000289672:P1500A	ENSP00000289672:P1500A	P	-	1	0	PKD1L1	47863820	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.386000	0.07370	0.160000	0.19432	0.563000	0.77884	CCT	PKD1L1	-	pfscan_REJ-like		0.552	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	G	NM_138295		47897295	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	missense	SNP	0.000	C	C	47897295	G	C	47897295	3	2	185	1	0	0	0	0	1	0	0	0	11988	1174	41	1	4171	1	PKD1L1	7	47897295	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3160766	47897295	111241368	657	34932										
POM121L12	285877	genome.wustl.edu	37	chr7	53103781	53103781	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acctggagcccggtgaccatCgggatcgcgccccctgagcg	14	16	0	2	rs534712268		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:53103781C>T	ENST00000408890.4	+	1	433	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	139								p.I139M(1)|p.I139I(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGTGACCATCGGGATCGCGC	0.716													C|||	1	0.000199681	0	0	5008	,	,		12104	0		0	False		,,,				2504	0.001																2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)											24	28	27					7																	53103781		1967	4116	6083	SO:0001819	synonymous_variant	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.417C>T	7.37:g.53103781C>T			Q8NDI9	Silent	SNP	NULL	p.I139	ENST00000408890.4	37	c.417	CCDS43584.1	7																																																																																			POM121L12	-	NULL		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	C	NM_182595		53103781	1	no_errors	ENST00000408890	ensembl	human	known	70_37	silent	SNP	0.001	T	T	53103781	C	T	53103781	2	4	185	1	0	0	0	0	0	0	0	1	12265	874	31	1		1	POM121L12	7	53103781	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5206486	53103781	106034882	658	34933										
ZNF273	10793	genome.wustl.edu	37	chr7	64388535	64388535	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctttaaccagtccttaactCttactaaacataaaaaaatt	1	10	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:64388535C>G	ENST00000476120.1	+	4	900	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	ZNF273_ENST00000319636.5_Missense_Mutation_p.L212V|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GTCCTTAACTCTTACTAAACA	0.318																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0													37	42	40					7																	64388535		2196	4297	6493	SO:0001583	missense	10793			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.829C>G	7.37:g.64388535C>G	ENSP00000418719:p.Leu277Val		B3KQZ5|Q6P3V4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L277V	ENST00000476120.1	37	c.829	CCDS5528.2	7	.	.	.	.	.	.	.	.	.	.	.	9.069	0.996470	0.19043	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.52983	0.64;0.64	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58481	0.2125	M	0.84511	2.7	0.09310	N	1	B	0.21147	0.052	B	0.42798	0.398	T	0.63028	-0.6728	9	0.72032	D	0.01	.	3.3363	0.07102	0.0:0.6898:0.0:0.3102	.	277	Q14593	ZN273_HUMAN	V	277;212	ENSP00000418719:L277V;ENSP00000324518:L212V	ENSP00000324518:L212V	L	+	1	0	ZNF273	64025970	0.134000	0.22483	0.051000	0.19133	0.051000	0.14879	0.362000	0.20284	0.202000	0.20498	0.205000	0.17691	CTT	ZNF273	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.318	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF273	HGNC	protein_coding	OTTHUMT00000313502.1	C			64388535	1	no_errors	ENST00000476120	ensembl	human	known	70_37	missense	SNP	0.097	G	G	64388535	C	G	64388535	3	3	185	1	0	0	0	0	1	0	0	0	17838	913	32	1	843	1	ZNF273	7	64388535	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	11284754	64388535	94750128	659	34934										
NSUN5	55695	genome.wustl.edu	37	chr7	72721671	72721671	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccaactcagccttgagcctCgcctggtgccggcccaacag	11	17	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:72721671C>T	ENST00000252594.6	-	3	315	c.300G>A	c.(298-300)gcG>gcA	p.A100A	NSUN5_ENST00000310326.8_Silent_p.A100A|NSUN5_ENST00000438747.2_Silent_p.A100A|NSUN5_ENST00000428206.1_Intron			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	100				A -> P (in Ref. 1; AAL16067). {ECO:0000305}.	rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CCTTGAGCCTCGCCTGGTGCC	0.602																																																	0													46	39	41					7																	72721671		2203	4300	6503	SO:0001819	synonymous_variant	55695			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.300G>A	7.37:g.72721671C>T			B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.A100	ENST00000252594.6	37	c.300	CCDS5547.1	7																																																																																			NSUN5	-	NULL		0.602	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	C	NM_148956		72721671	-1	no_errors	ENST00000438747	ensembl	human	known	70_37	silent	SNP	0.982	T	T	72721671	C	T	72721671	2	4	185	1	0	0	0	0	0	0	0	1	10705	871	31	1		1	NSUN5	7	72721671	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	8333136	72721671	86416992	660	34935										
GTF2IRD1	9569	genome.wustl.edu	37	chr7	74005296	74005296	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacatccaccggctggagaaGatcctgaaggcccgagagca	13	12	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:74005296G>T	ENST00000265755.3	+	24	2979	c.2586G>T	c.(2584-2586)aaG>aaT	p.K862N	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.K879N|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.K847N|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.K847N	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	862					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTGGAGAAGATCCTGAAGG	0.617																																																	0													81	72	75					7																	74005296		2203	4300	6503	SO:0001583	missense	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2586G>T	7.37:g.74005296G>T	ENSP00000265755:p.Lys862Asn		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.K862N	ENST00000265755.3	37	c.2586	CCDS5571.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.80|16.80	3.223671|3.223671	0.58668|0.58668	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000470715|ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	.|T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.052925	.|0.64402	.|D	.|0.000001	T|T	0.56949|0.56949	0.2020|0.2020	L|L	0.31926|0.31926	0.97|0.97	0.54753|0.54753	D|D	0.99998|0.99998	.|P;D;B;B	.|0.56287	.|0.889;0.975;0.02;0.007	.|P;D;B;B	.|0.63113	.|0.725;0.911;0.057;0.013	T|T	0.57154|0.57154	-0.7860|-0.7860	5|10	.|0.54805	.|T	.|0.06	-22.7621|-22.7621	16.5755|16.5755	0.84635|0.84635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|879;847;862;847	.|Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.|.;.;GT2D1_HUMAN;.	Y|N	225|862;879;847;847	.|ENSP00000265755:K862N;ENSP00000397566:K879N;ENSP00000408477:K847N;ENSP00000418383:K847N	.|ENSP00000265755:K862N	D|K	+|+	1|3	0|2	GTF2IRD1|GTF2IRD1	73643232|73643232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	2.160000|2.160000	0.42348|0.42348	2.599000|2.599000	0.87857|0.87857	0.561000|0.561000	0.74099|0.74099	GAT|AAG	GTF2IRD1	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.617	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	G	NM_016328		74005296	1	no_errors	ENST00000265755	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74005296	G	T	74005296	3	4	185	1	0	0	0	0	1	0	0	0	6888	933	33	3	2676	3	GTF2IRD1	7	74005296	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1283625	74005296	85133367	661	34936										
GTF2I	2969	genome.wustl.edu	37	chr7	74157852	74157852	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtggaagagatttttaatttGaaatttggtaagtaaaagcc	10	2	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:74157852G>C	ENST00000324896.4	+	20	2132	c.1743G>C	c.(1741-1743)ttG>ttC	p.L581F	GTF2I_ENST00000346152.4_Missense_Mutation_p.L560F|GTF2I_ENST00000416070.1_Missense_Mutation_p.L540F|GTF2I_ENST00000353920.4_Missense_Mutation_p.L561F	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	581					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTTTTAATTTGAAATTTGGTA	0.363																																																	0													1	1	1					7																	74157852		590	851	1441	SO:0001583	missense	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1743G>C	7.37:g.74157852G>C	ENSP00000322542:p.Leu581Phe		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L581F	ENST00000324896.4	37	c.1743	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967391	0.34754	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.03	5.03	0.67393	.	0.226358	0.31061	N	0.008331	T	0.28366	0.0701	N	0.04203	-0.255	0.80722	D	1	P;B;P;P;P	0.52577	0.934;0.003;0.944;0.815;0.954	P;B;P;P;P	0.52909	0.713;0.003;0.553;0.494;0.681	T	0.07065	-1.0792	10	0.10902	T	0.67	-14.8791	10.9703	0.47436	0.0858:0.0:0.9142:0.0	.	559;540;561;560;581	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	F	581;576;561;560;540	ENSP00000322542:L581F;ENSP00000322671:L561F;ENSP00000322599:L560F;ENSP00000387651:L540F	ENSP00000322542:L581F	L	+	3	2	GTF2I	73795788	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.108000	0.50337	2.365000	0.80145	0.545000	0.68477	TTG	GTF2I	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.363	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	G	NM_032999		74157852	1	no_errors	ENST00000324896	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74157852	G	C	74157852	3	2	185	1	0	0	0	0	1	0	0	0	6887	1281	45	1	1817	1	GTF2I	7	74157852	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	152556	74157852	84980811	662	34937										
GTF2I	2969	genome.wustl.edu	37	chr7	74172300	74172300	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtttctctttagaatcagctGaaccaagccagttggaagtt	9	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:74172300G>C	ENST00000324896.4	+	33	3294	c.2905G>C	c.(2905-2907)Gaa>Caa	p.E969Q	GTF2I_ENST00000346152.4_Missense_Mutation_p.E948Q|GTF2I_ENST00000416070.1_Missense_Mutation_p.E928Q|GTF2I_ENST00000353920.4_Missense_Mutation_p.E949Q	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	969					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGAATCAGCTGAACCAAGCCA	0.418																																																	0													6	7	7					7																	74172300		2050	3907	5957	SO:0001583	missense	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.2905G>C	7.37:g.74172300G>C	ENSP00000322542:p.Glu969Gln		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.E969Q	ENST00000324896.4	37	c.2905	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181388	0.38511	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	3.72	3.72	0.42706	.	0.457002	0.19714	N	0.107752	T	0.21103	0.0508	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.16166	0.016;0.007;0.007;0.007;0.004	B;B;B;B;B	0.17722	0.008;0.012;0.019;0.019;0.008	T	0.09662	-1.0664	10	0.72032	D	0.01	-16.6487	12.7677	0.57401	0.0:0.0:1.0:0.0	.	947;928;949;948;969	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	Q	969;964;949;948;928	ENSP00000322542:E969Q;ENSP00000322671:E949Q;ENSP00000322599:E948Q;ENSP00000387651:E928Q	ENSP00000322542:E969Q	E	+	1	0	GTF2I	73810236	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	4.722000	0.61958	2.104000	0.64026	0.449000	0.29647	GAA	GTF2I	-	pirsf_TF_II-I		0.418	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	G	NM_032999		74172300	1	no_errors	ENST00000324896	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74172300	G	C	74172300	3	2	185	1	0	0	0	0	1	0	0	0	6887	1291	45	1	3031	1	GTF2I	7	74172300	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	14448	74172300	84966363	663	34938										
PTPN12	5782	genome.wustl.edu	37	chr7	77256663	77256663	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttatctgaaggcaattcctCagatatcaactatcaaacta	4	9	4	2	rs374583053		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:77256663C>G	ENST00000248594.6	+	13	1939	c.1667C>G	c.(1666-1668)tCa>tGa	p.S556*	PTPN12_ENST00000415482.2_Nonsense_Mutation_p.S437*|PTPN12_ENST00000435495.2_Nonsense_Mutation_p.S426*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	556					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GGCAATTCCTCAGATATCAAC	0.413																																																	0													116	109	111					7																	77256663		2203	4300	6503	SO:0001587	stop_gained	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1667C>G	7.37:g.77256663C>G	ENSP00000248594:p.Ser556*		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S556*	ENST00000248594.6	37	c.1667	CCDS5592.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.103560	0.98657	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000407343	.	.	.	6.04	6.04	0.98038	.	0.194834	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	X	556;437;437;426;64	.	ENSP00000248594:S556X	S	+	2	0	PTPN12	77094599	1.000000	0.71417	0.980000	0.43619	0.624000	0.37722	5.923000	0.70045	2.873000	0.98535	0.563000	0.77884	TCA	PTPN12	-	pirsf_Tyr_Pase_non-rcpt_typ-12		0.413	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	C			77256663	1	no_errors	ENST00000248594	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	77256663	C	G	77256663	4	3	185	1	0	0	0	0	0	1	0	0	12809	838	29	1	1717	1	PTPN12	7	77256663	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3084363	77256663	81882000	664	34939										
SEMA3A	10371	genome.wustl.edu	37	chr7	83610767	83610767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taaagggagctgggcaacccCagccgttgaaccaatatata	10	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:83610767C>T	ENST00000265362.4	-	14	1836	c.1522G>A	c.(1522-1524)Ggg>Agg	p.G508R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G508R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	508	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGGCAACCCCAGCCGTTGAA	0.453																																																	0													58	57	57					7																	83610767		2203	4300	6503	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1522G>A	7.37:g.83610767C>T	ENSP00000265362:p.Gly508Arg			Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.G508R	ENST00000265362.4	37	c.1522	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909491	0.72868	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.24350	1.86;1.86	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.094462	0.64402	D	0.000001	T	0.54886	0.1886	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55897	-0.8068	10	0.72032	D	0.01	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	508	Q14563	SEM3A_HUMAN	R	508	ENSP00000265362:G508R;ENSP00000415260:G508R	ENSP00000265362:G508R	G	-	1	0	SEMA3A	83448703	1.000000	0.71417	0.467000	0.27180	0.044000	0.14063	7.770000	0.85390	2.687000	0.91594	0.655000	0.94253	GGG	SEMA3A	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.453	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	C	NM_006080		83610767	-1	no_errors	ENST00000265362	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83610767	C	T	83610767	3	4	185	1	0	0	0	0	1	0	0	0	14054	594	21	4	809	4	SEMA3A	7	83610767	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6354104	83610767	75527896	665	34940										
ABCB1	5243	genome.wustl.edu	37	chr7	87135251	87135251	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagagctgacgtggcttcatCcaaaagcaaaatatgaggct	10	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:87135251C>G	ENST00000265724.3	-	28	4015	c.3598G>C	c.(3598-3600)Gat>Cat	p.D1200H	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.D1136H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1200	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTGGCTTCATCCAAAAGCAAA	0.418																																																	0													163	150	154					7																	87135251		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3598G>C	7.37:g.87135251C>G	ENSP00000265724:p.Asp1200His		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.D1200H	ENST00000265724.3	37	c.3598	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.250172	0.95305	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.99695	-6.43;-6.43	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96702	0.9519	10	0.87932	D	0	-30.7427	19.3618	0.94442	0.0:1.0:0.0:0.0	.	1136;1200	B5AK60;P08183	.;MDR1_HUMAN	H	981;1200;1136	ENSP00000265724:D1200H;ENSP00000444095:D1136H	ENSP00000265724:D1200H	D	-	1	0	ABCB1	86973187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.780000	0.85658	2.820000	0.97059	0.650000	0.86243	GAT	ABCB1	-	pfam_ABC_transporter-like,pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.418	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	C	NM_000927		87135251	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	missense	SNP	1.000	G	G	87135251	C	G	87135251	3	3	185	1	0	0	0	0	1	0	0	0	40	855	30	1	252	1	ABCB1	7	87135251	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3524484	87135251	72003412	666	34941										
MTERF	7978	genome.wustl.edu	37	chr7	91502974	91502974	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttactccaagatagaagagtGatgtttaaagtactcaagtt	8	5	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:91502974G>A	ENST00000351870.3	-	3	1227	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	MTERF_ENST00000419292.1_Silent_p.I358I|MTERF_ENST00000406735.2_Silent_p.I358I	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		378					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			ATAGAAGAGTGATGTTTAAAG	0.333																																																	0													75	71	73					7																	91502974		2202	4300	6502	SO:0001819	synonymous_variant	7978																														ENST00000351870.3:c.1134C>T	7.37:g.91502974G>A			A4D1E3|Q32NF8|Q53H51|Q9BVR7	Silent	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.I378	ENST00000351870.3	37	c.1134	CCDS5621.1	7																																																																																			MTERF	-	pfam_Mit_transcrip_term-rel		0.333	MTERF-003	KNOWN	basic|CCDS	protein_coding	MTERF	HGNC	protein_coding	OTTHUMT00000342896.1	G			91502974	-1	no_errors	ENST00000351870	ensembl	human	known	70_37	silent	SNP	0.001	A	A	91502974	G	A	91502974	2	1	185	1	0	0	0	0	0	0	0	1	9941	1280	45	1		1	MTERF	7	91502974	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4367723	91502974	67635689	667	34942										
PPP1R9A	55607	genome.wustl.edu	37	chr7	94740697	94740697	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacttttcccagtggagctaGagaaaggttcgtgagtgcta	12	7	0	2	rs140118821	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:94740697G>C	ENST00000433881.1	+	3	2054	c.1522G>C	c.(1522-1524)Gag>Cag	p.E508Q	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E508Q|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E508Q|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E508Q|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E508Q|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E508Q			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	508	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTGGAGCTAGAGAAAGGTTC	0.378										HNSCC(28;0.073)			G|||	2	0.000399361	0	0	5008	,	,		16667	0		0	False		,,,				2504	0.002																0								G	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	0,4406		0,0,2203	58	58	58		1522,1522,1522,1522,1522	5	1	7	dbSNP_134	58	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense,missense,missense,missense	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	29,29,29,29,29	0,9,6494	CC,CG,GG		0.1047,0.0,0.0692	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	508/1375,508/1297,508/1254,508/1091,508/1099	94740697	9,12997	2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1522G>C	7.37:g.94740697G>C	ENSP00000398870:p.Glu508Gln		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.E508Q	ENST00000433881.1	37	c.1522	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018197	0.35606	0.0	0.001047	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.98	4.98	0.66077	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.21373	0.66	0.80722	D	1	B;B;B;B;B	0.28400	0.024;0.136;0.015;0.21;0.01	B;B;B;B;B	0.27262	0.068;0.078;0.056;0.071;0.068	T	0.05419	-1.0886	10	0.56958	D	0.05	.	15.244	0.73493	0.0:0.1405:0.8594:0.0	.	508;508;508;508;508	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Q	508	ENSP00000405514:E508Q;ENSP00000344524:E508Q;ENSP00000411342:E508Q;ENSP00000398870:E508Q;ENSP00000289495:E508Q;ENSP00000402893:E508Q	ENSP00000289495:E508Q	E	+	1	0	PPP1R9A	94578633	1.000000	0.71417	0.968000	0.41197	0.122000	0.20287	7.656000	0.83736	2.755000	0.94549	0.650000	0.86243	GAG	PPP1R9A	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.378	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	G	NM_001166160		94740697	1	no_errors	ENST00000289495	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94740697	G	C	94740697	3	2	185	1	0	0	0	0	1	0	0	0	12405	943	33	1	1528	1	PPP1R9A	7	94740697	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3237723	94740697	64397966	668	34943										
TRRAP	8295	genome.wustl.edu	37	chr7	98491433	98491433	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttttttagacggaaaatgaaGaaaatgttcttatttgtcta	7	3	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:98491433G>C	ENST00000359863.4	+	6	588	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.E127Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E127Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	127					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAAATGAAGAAAATGTTCT	0.323																																																	0													73	78	77					7																	98491433		2203	4299	6502	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.379G>C	7.37:g.98491433G>C	ENSP00000352925:p.Glu127Gln		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E127Q	ENST00000359863.4	37	c.379	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034511	0.75617	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.67345	3.46;-0.26	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82467	0.5043	M	0.78456	2.415	0.80722	D	1	D;D	0.61080	0.989;0.981	D;D	0.70487	0.969;0.932	D	0.84465	0.0596	10	0.72032	D	0.01	.	19.0215	0.92917	0.0:0.0:1.0:0.0	.	127;127	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	Q	127	ENSP00000352925:E127Q;ENSP00000347733:E127Q	ENSP00000347733:E127Q	E	+	1	0	TRRAP	98329369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.633000	0.98432	2.584000	0.87258	0.555000	0.69702	GAA	TRRAP	-	superfamily_ARM-type_fold		0.323	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98491433	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	C	C	98491433	G	C	98491433	3	2	185	1	0	0	0	0	1	0	0	0	16632	943	33	1	397	1	TRRAP	7	98491433	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3750736	98491433	60647230	669	34944										
ZNF394	84124	genome.wustl.edu	37	chr7	99097648	99097648	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcgccgcgtccttggacctCgcagccatcacccagggtcc	12	18	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:99097648C>T	ENST00000337673.6	-	1	272	c.69G>A	c.(67-69)gcG>gcA	p.A23A	ZNF394_ENST00000426306.2_Silent_p.A23A|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	23					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTTGGACCTCGCAGCCATCA	0.632																																					Ovarian(24;589 697 9939 12704 40742)												0													50	53	52					7																	99097648		2203	4300	6503	SO:0001819	synonymous_variant	84124			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.69G>A	7.37:g.99097648C>T			A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A23	ENST00000337673.6	37	c.69	CCDS5666.1	7																																																																																			ZNF394	-	NULL		0.632	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	C	NM_032164		99097648	-1	no_errors	ENST00000337673	ensembl	human	known	70_37	silent	SNP	0.000	T	T	99097648	C	T	99097648	2	4	185	1	0	0	0	0	0	0	0	1	17910	871	31	1		1	ZNF394	7	99097648	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	606215	99097648	60041015	670	34945										
GAL3ST4	79690	genome.wustl.edu	37	chr7	99764665	99764665	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagactcccagagccaccccCaggctccgaggtccccagag	10	18	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:99764665C>G	ENST00000360039.4	-	2	446	c.54G>C	c.(52-54)ctG>ctC	p.L18L	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.G58R|GAL3ST4_ENST00000411994.1_Silent_p.L18L|GAL3ST4_ENST00000423751.1_Silent_p.L18L|GPC2_ENST00000471050.1_5'Flank|GAL3ST4_ENST00000413800.1_Silent_p.L18L|GAL3ST4_ENST00000482469.1_5'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	18					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCCACCCCCAGGCTCCGAG	0.632																																																	0													24	27	26					7																	99764665		2191	4287	6478	SO:0001819	synonymous_variant	79690			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.54G>C	7.37:g.99764665C>G			A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.G58R	ENST00000360039.4	37	c.172	CCDS5688.1	7	.	.	.	.	.	.	.	.	.	.	C	1.564	-0.535989	0.04082	.	.	ENSG00000197093	ENST00000426974	T	0.31769	1.48	5.08	1.08	0.20341	.	.	.	.	.	T	0.13157	0.0319	.	.	.	0.21064	N	0.999795	B	0.13594	0.008	B	0.14578	0.011	T	0.30238	-0.9985	8	0.17369	T	0.5	-5.4606	1.072	0.01623	0.1377:0.3764:0.1925:0.2934	.	58	B4DWL8	.	R	58	ENSP00000398304:G58R	ENSP00000398304:G58R	G	-	1	0	GAL3ST4	99602601	0.762000	0.28451	1.000000	0.80357	0.962000	0.63368	-0.126000	0.10563	0.206000	0.20587	-0.362000	0.07510	GGG	GAL3ST4	-	NULL		0.632	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST4	HGNC	protein_coding	OTTHUMT00000337495.2	C	NM_024637		99764665	-1	no_errors	ENST00000426974	ensembl	human	known	70_37	missense	SNP	0.997	G	G	99764665	C	G	99764665	2	3	185	1	0	0	0	0	0	0	0	1	6219	581	21	4		4	GAL3ST4	7	99764665	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	667017	99764665	59373998	671	34946										
C7orf51	222950	genome.wustl.edu	37	chr7	100085778	100085778	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcttgtcctgtccaggctCacagaagccaaccccagagg	9	14	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:100085778C>G	ENST00000300179.2	+	4	593	c.434C>G	c.(433-435)tCa>tGa	p.S145*	NYAP1_ENST00000454988.1_Nonsense_Mutation_p.S88*|NYAP1_ENST00000423930.1_Nonsense_Mutation_p.S145*	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	145	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGTCCAGGCTCACAGAAGCCA	0.557																																																	0													107	124	118					7																	100085778		2203	4300	6503	SO:0001587	stop_gained	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.434C>G	7.37:g.100085778C>G	ENSP00000300179:p.Ser145*		Q6U9Y3|Q8N1V0	Nonsense_Mutation	SNP	NULL	p.S145*	ENST00000300179.2	37	c.434	CCDS5696.1	7	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589597	0.66105	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	.	.	.	5.32	5.32	0.75619	.	0.159041	0.29924	N	0.010860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.6063	16.4828	0.84162	0.0:1.0:0.0:0.0	.	.	.	.	X	145;145;88	.	ENSP00000300179:S145X	S	+	2	0	C7orf51	99923714	0.912000	0.30974	0.999000	0.59377	0.872000	0.50106	2.253000	0.43205	2.489000	0.83994	0.407000	0.27541	TCA	NYAP1	-	NULL		0.557	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	C	NM_173564		100085778	1	no_errors	ENST00000423930	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	100085778	C	G	100085778	4	3	185	1	0	0	0	0	0	1	0	0	2405	838	29	1	444	1	C7orf51	7	100085778	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	321113	100085778	59052885	672	34947										
PCOLCE	5118	genome.wustl.edu	37	chr7	100204157	100204157	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggggcactgccaaagaagggCaagggcccggccccaaacgg	16	13	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:100204157C>T	ENST00000223061.5	+	6	1124	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	282					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAAAGAAGGGCAAGGGCCCGG	0.592																																																	0													47	48	48					7																	100204157		2203	4300	6503	SO:0001587	stop_gained	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.844C>T	7.37:g.100204157C>T	ENSP00000223061:p.Gln282*		B2R9E1|O14550	Nonsense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.Q282*	ENST00000223061.5	37	c.844	CCDS5700.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.625271	0.96671	.	.	ENSG00000106333	ENST00000223061	.	.	.	4.65	1.68	0.24146	.	3.208440	0.01527	U	0.018618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	0.2765	2.2417	0.04021	0.1992:0.4943:0.1937:0.1128	.	.	.	.	X	282	.	ENSP00000223061:Q282X	Q	+	1	0	PCOLCE	100042093	0.007000	0.16637	0.006000	0.13384	0.410000	0.31052	-0.153000	0.10144	1.141000	0.42275	0.462000	0.41574	CAA	PCOLCE	-	NULL		0.592	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1	C	NM_002593		100204157	1	no_errors	ENST00000223061	ensembl	human	known	70_37	nonsense	SNP	0.003	T	T	100204157	C	T	100204157	4	4	185	1	0	0	0	0	0	1	0	0	11618	711	25	4	866	4	PCOLCE	7	100204157	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	118379	100204157	58934506	673	34948										
MUC17	140453	genome.wustl.edu	37	chr7	100675832	100675832	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttcacttcctacaactgctGaagctaccagcatgctaacc	6	14	1	1	rs563774308		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:100675832G>A	ENST00000306151.4	+	3	1199	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	379	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACTGCTGAAGCTACCAG	0.468																																																	0													189	196	194					7																	100675832		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1135G>A	7.37:g.100675832G>A	ENSP00000302716:p.Glu379Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E379K	ENST00000306151.4	37	c.1135	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	5.824	0.336297	0.11013	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	1.21	0.234	0.15390	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	P	0.42993	0.797	B	0.28638	0.092	T	0.38134	-0.9675	9	0.06494	T	0.89	.	5.798	0.18397	0.2055:0.0:0.7945:0.0	.	379	Q685J3	MUC17_HUMAN	K	379	ENSP00000302716:E379K	ENSP00000302716:E379K	E	+	1	0	MUC17	100462552	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.263000	0.08670	0.090000	0.17273	0.383000	0.25322	GAA	MUC17	-	NULL		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100675832	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.012	A	A	100675832	G	A	100675832	3	1	185	1	0	0	0	0	1	0	0	0	9997	1291	45	1	1145	1	MUC17	7	100675832	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	471675	100675832	58462831	674	34949										
MUC17	140453	genome.wustl.edu	37	chr7	100686128	100686128	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcctatgtcaactacgagtGaaagaagcactttattgaca	8	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:100686128G>C	ENST00000306151.4	+	3	11495	c.11431G>C	c.(11431-11433)Gaa>Caa	p.E3811Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3811	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTACGAGTGAAAGAAGCAC	0.478																																																	0													100	89	92					7																	100686128		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11431G>C	7.37:g.100686128G>C	ENSP00000302716:p.Glu3811Gln		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E3811Q	ENST00000306151.4	37	c.11431	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	6.016	0.371428	0.11409	.	.	ENSG00000169876	ENST00000306151	T	0.02121	4.44	1.14	1.14	0.20703	.	.	.	.	.	T	0.02267	0.0070	N	0.24115	0.695	0.09310	N	1	D	0.57257	0.979	P	0.49752	0.621	T	0.48525	-0.9028	9	0.15066	T	0.55	.	5.5758	0.17222	0.0:0.0:1.0:0.0	.	3811	Q685J3	MUC17_HUMAN	Q	3811	ENSP00000302716:E3811Q	ENSP00000302716:E3811Q	E	+	1	0	MUC17	100472848	0.001000	0.12720	0.001000	0.08648	0.062000	0.15995	0.825000	0.27393	0.593000	0.29745	0.187000	0.17357	GAA	MUC17	-	NULL		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100686128	1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.000	C	C	100686128	G	C	100686128	3	2	185	1	0	0	0	0	1	0	0	0	9997	1291	45	1	11441	1	MUC17	7	100686128	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	10296	100686128	58452535	675	34950										
CUX1	1523	genome.wustl.edu	37	chr7	101754977	101754977	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttcgtcctcttcctttgcaGaaagctgcaggagacacaga	9	12	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:101754977G>A	ENST00000292535.7	+	7	568		c.e7-1		CUX1_ENST00000292538.4_Splice_Site|CUX1_ENST00000437600.4_Splice_Site|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000560541.1_Splice_Site|CUX1_ENST00000360264.3_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000393824.3_Splice_Site|CUX1_ENST00000546411.2_Splice_Site|CUX1_ENST00000547394.2_Splice_Site|CUX1_ENST00000556210.1_Splice_Site|CUX1_ENST00000425244.2_Splice_Site	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTCCTTTGCAGAAAGCTGCAG	0.512																																																	0													109	93	98					7																	101754977		2203	4300	6503	SO:0001630	splice_region_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.531-1G>A	7.37:g.101754977G>A			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	-	e7-1	ENST00000292535.7	37	c.564-1	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479123	0.84747	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX1	101541697	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.741000	0.91583	2.832000	0.97577	0.655000	0.94253	.	CUX1	-	-		0.512	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	G	NM_001913	Intron	101754977	1	no_errors	ENST00000360264	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	101754977	G	A	101754977	5	1	185	1	0	0	0	0	0	0	1	0	4069	956	33	1	623	1	CUX1	7	101754977	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1068849	101754977	57383686	676	34951										
MLL5	55904	genome.wustl.edu	37	chr7	104753436	104753436	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccttacaccacccacctcatCaaggacctccactttttcct	2	19	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:104753436C>G	ENST00000311117.3	+	27	5778	c.5233C>G	c.(5233-5235)Caa>Gaa	p.Q1745E	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1745E|KMT2E_ENST00000334877.4_Missense_Mutation_p.Q1703E	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1745	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CCCACCTCATCAAGGACCTCC	0.552																																																	0													276	215	236					7																	104753436		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5233C>G	7.37:g.104753436C>G	ENSP00000312379:p.Gln1745Glu		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.Q1745E	ENST00000311117.3	37	c.5233	CCDS34723.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.042|7.042	0.562717|0.562717	0.13498|0.13498	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000393656|ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	.|D;D;D	.|0.92397	.|-3.03;-2.81;-3.03	3.94|3.94	3.94|3.94	0.45596|0.45596	.|.	.|0.000000	.|0.42420	.|D	.|0.000717	D|D	0.85301|0.85301	0.5665|0.5665	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|P;B	.|0.39847	.|0.691;0.066	.|B;B	.|0.35353	.|0.201;0.032	D|D	0.86962|0.86962	0.2092|0.2092	6|10	0.59425|0.49607	D|T	0.04|0.09	.|.	16.3877|16.3877	0.83522|0.83522	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1665;1745	.|F8W6H1;Q8IZD2	.|.;MLL5_HUMAN	M|E	1527|1745;1703;1665;1745	.|ENSP00000312379:Q1745E;ENSP00000335599:Q1703E;ENSP00000257745:Q1745E	ENSP00000377266:I1527M|ENSP00000257745:Q1745E	I|Q	+|+	3|1	3|0	MLL5|MLL5	104540672|104540672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	5.900000|5.900000	0.69853|0.69853	1.934000|1.934000	0.56057|0.56057	0.454000|0.454000	0.30748|0.30748	ATC|CAA	MLL5	-	NULL		0.552	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104753436	1	no_errors	ENST00000257745	ensembl	human	known	70_37	missense	SNP	1.000	G	G	104753436	C	G	104753436	3	3	185	1	0	0	0	0	1	0	0	0	9647	827	29	1	5331	1	MLL5	7	104753436	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2998459	104753436	54385227	677	34952										
CAV2	858	genome.wustl.edu	37	chr7	116139970	116139970	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaccgggatccccaccggctCaactcgcatctcaaggtgaa	10	15	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:116139970C>G	ENST00000222693.4	+	1	527	c.135C>G	c.(133-135)ctC>ctG	p.L45L	CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Silent_p.L45L|CAV2_ENST00000343213.2_Silent_p.L45L|AC002066.1_ENST00000446355.2_RNA	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	45					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			CCCACCGGCTCAACTCGCATC	0.706																																																	0													20	24	23					7																	116139970		2202	4300	6502	SO:0001819	synonymous_variant	858			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.135C>G	7.37:g.116139970C>G			A4D0U2|Q9UGM7	Silent	SNP	pfam_Caveolin	p.L45	ENST00000222693.4	37	c.135	CCDS5766.1	7																																																																																			CAV2	-	pfam_Caveolin		0.706	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV2	HGNC	protein_coding	OTTHUMT00000059735.4	C	NM_001233		116139970	1	no_errors	ENST00000222693	ensembl	human	known	70_37	silent	SNP	1.000	G	G	116139970	C	G	116139970	2	3	185	1	0	0	0	0	0	0	0	1	2699	813	29	1		1	CAV2	7	116139970	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	11386534	116139970	42998693	678	34953										
WNT2	7472	genome.wustl.edu	37	chr7	116962987	116962987	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaagagttgacctcgggggtGagccaggtcaagagcagagg	18	7	1	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:116962987G>A	ENST00000265441.3	-	1	356	c.57C>T	c.(55-57)ctC>ctT	p.L19L	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	19					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCGGGGGTGAGCCAGGTCA	0.607																																																	0													85	83	84					7																	116962987		2203	4300	6503	SO:0001819	synonymous_variant	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.57C>T	7.37:g.116962987G>A			A4D0V1|Q75N05|Q9UDP9	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.L19	ENST00000265441.3	37	c.57	CCDS5771.1	7																																																																																			WNT2	-	NULL		0.607	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2	HGNC	protein_coding	OTTHUMT00000059749.3	G	NM_003391		116962987	-1	no_errors	ENST00000265441	ensembl	human	known	70_37	silent	SNP	1.000	A	A	116962987	G	A	116962987	2	1	185	1	0	0	0	0	0	0	0	1	17417	1277	45	1		1	WNT2	7	116962987	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	823017	116962987	42175676	679	34954										
CADPS2	93664	genome.wustl.edu	37	chr7	122114572	122114572	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttctgaaaacgatctgcatCtgtaaattcaggaaagcatg	8	7	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:122114572C>T	ENST00000449022.2	-	13	1881		c.e13-1		CADPS2_ENST00000412584.2_Splice_Site|CADPS2_ENST00000334010.7_Missense_Mutation_p.D622N|CADPS2_ENST00000313070.7_Splice_Site	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2						cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CGATCTGCATCTGTAAATTCA	0.388																																																	0													64	63	63					7																	122114572		1874	4105	5979	SO:0001630	splice_region_variant	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1862-1G>A	7.37:g.122114572C>T			A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Splice_Site	SNP	-	e13-1	ENST00000449022.2	37	c.1862-1	CCDS55158.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.94|19.94	3.920683|3.920683	0.73213|0.73213	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000545465;ENST00000412584;ENST00000449022;ENST00000397721|ENST00000334010;ENST00000420900	.|T	.|0.47177	.|0.85	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65186	.|0.2667	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60627	.|-0.7226	.|5	.|.	.|.	.|.	.|.	20.1169|20.1169	0.97940|0.97940	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|622	.|ENSP00000333940:D622N	.|.	.|D	-|-	.|1	.|0	CADPS2|CADPS2	121901808|121901808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	7.587000|7.587000	0.82613|0.82613	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	.|GAT	CADPS2	-	-		0.388	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	C	NM_017954	Intron	122114572	-1	no_errors	ENST00000449022	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	122114572	C	T	122114572	5	4	185	1	0	0	0	0	0	0	1	0	2576	927	32	1	2145	1	CADPS2	7	122114572	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5151585	122114572	37024091	680	34955										
TSGA13	114960	genome.wustl.edu	37	chr7	130357681	130357681	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgaggcatgcggggcagccaGaggttctcagtgggtttgtg	18	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:130357681G>C	ENST00000456951.1	-	7	1274	c.423C>G	c.(421-423)ctC>ctG	p.L141L	TSGA13_ENST00000356588.3_Silent_p.L141L			Q96PP4	TSG13_HUMAN	testis specific, 13	141										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGGGCAGCCAGAGGTTCTCAG	0.463																																																	0													119	114	116					7																	130357681		2203	4300	6503	SO:0001819	synonymous_variant	114960			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.423C>G	7.37:g.130357681G>C			B3KSC9	Silent	SNP	NULL	p.L141	ENST00000456951.1	37	c.423	CCDS5824.1	7																																																																																			TSGA13	-	NULL		0.463	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA13	HGNC	protein_coding	OTTHUMT00000337997.1	G	NM_052933		130357681	-1	no_errors	ENST00000356588	ensembl	human	known	70_37	silent	SNP	0.000	C	C	130357681	G	C	130357681	2	2	185	1	0	0	0	0	0	0	0	1	16650	929	33	1		1	TSGA13	7	130357681	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	8243109	130357681	28780982	681	34956										
WEE2	494551	genome.wustl.edu	37	chr7	141429462	141429462	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggaaagagtgcaaggtcttCaagctttacctgtgagtaat	11	6	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:141429462C>T	ENST00000397541.2	+	11	2073	c.1667C>T	c.(1666-1668)tCa>tTa	p.S556L	WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	556					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GCAAGGTCTTCAAGCTTTACC	0.542																																																	0													78	76	76					7																	141429462		1880	4117	5997	SO:0001583	missense	494551			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1667C>T	7.37:g.141429462C>T	ENSP00000380675:p.Ser556Leu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom	p.S556L	ENST00000397541.2	37	c.1667	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	C	7.620	0.676666	0.14841	.	.	ENSG00000214102	ENST00000397541	T	0.53423	0.62	5.53	2.6	0.31112	.	0.811739	0.10694	U	0.644800	T	0.26195	0.0639	N	0.26042	0.785	0.24286	N	0.995184	B	0.06786	0.001	B	0.06405	0.002	T	0.29458	-1.0011	10	0.07813	T	0.8	.	2.4826	0.04591	0.2142:0.4474:0.0:0.3384	.	556	P0C1S8	WEE2_HUMAN	L	556	ENSP00000380675:S556L	ENSP00000380675:S556L	S	+	2	0	WEE2	141075931	0.152000	0.22762	0.999000	0.59377	0.997000	0.91878	0.953000	0.29162	1.474000	0.48178	0.655000	0.94253	TCA	WEE2	-	pirsf_Wee1-like_protein_kinase		0.542	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	HGNC	protein_coding	OTTHUMT00000349091.1	C	NM_001105558		141429462	1	no_errors	ENST00000397541	ensembl	human	known	70_37	missense	SNP	0.975	T	T	141429462	C	T	141429462	3	4	185	1	0	0	0	0	1	0	0	0	17376	838	29	1	1709	1	WEE2	7	141429462	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	11071781	141429462	17709201	682	34957										
TRPV5	56302	genome.wustl.edu	37	chr7	142606661	142606661	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacaccatcactcaccgcagGaaccagcggtcccccagccc	7	21	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:142606661G>A	ENST00000265310.1	-	14	2238	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	630					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCACCGCAGGAACCAGCGGT	0.617																																																	0													90	77	81					7																	142606661		2203	4300	6503	SO:0001819	synonymous_variant	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1890C>T	7.37:g.142606661G>A			A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.F630	ENST00000265310.1	37	c.1890	CCDS5875.1	7																																																																																			TRPV5	-	prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel		0.617	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	HGNC	protein_coding	OTTHUMT00000347660.1	G	NM_019841		142606661	-1	no_errors	ENST00000265310	ensembl	human	known	70_37	silent	SNP	1.000	A	A	142606661	G	A	142606661	2	1	185	1	0	0	0	0	0	0	0	1	16630	1165	41	1		1	TRPV5	7	142606661	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1177199	142606661	16532002	683	34958										
CNTNAP2	26047	genome.wustl.edu	37	chr7	146825844	146825844	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccagcagtagaaagaatttCaaaggctgcatggaaagcat	10	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:146825844C>G	ENST00000361727.3	+	7	1515	c.999C>G	c.(997-999)ttC>ttG	p.F333L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	333	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAAAGAATTTCAAAGGCTGCA	0.413										HNSCC(39;0.1)																																							0													104	108	106					7																	146825844		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.999C>G	7.37:g.146825844C>G	ENSP00000354778:p.Phe333Leu		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F333L	ENST00000361727.3	37	c.999	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814646	0.70912	.	.	ENSG00000174469	ENST00000361727	D	0.89196	-2.48	5.84	0.884	0.19182	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000003	D	0.89976	0.6871	M	0.75085	2.285	0.80722	D	1	P	0.42123	0.771	P	0.48840	0.592	D	0.88172	0.2865	10	0.66056	D	0.02	.	10.8838	0.46955	0.0:0.7157:0.0:0.2843	.	333	Q9UHC6	CNTP2_HUMAN	L	333	ENSP00000354778:F333L	ENSP00000354778:F333L	F	+	3	2	CNTNAP2	146456777	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	1.554000	0.36266	0.103000	0.17682	0.655000	0.94253	TTC	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	C			146825844	1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	1.000	G	G	146825844	C	G	146825844	3	3	185	1	0	0	0	0	1	0	0	0	3652	825	29	1	1025	1	CNTNAP2	7	146825844	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4219183	146825844	12312819	684	34959										
SSPO	23145	genome.wustl.edu	37	chr7	149516582	149516582	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcctaccaagagcgccgcttCtgcaacctgcgagcctgccc	10	18	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:149516582C>T	ENST00000378016.2	+	0	11985							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCGCCGCTTCTGCAACCTGC	0.721																																																	0													12	15	14					7																	149516582		1961	4135	6096			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516582C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.721	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		C			149516582	1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	1.000	T	T	149516582	C	T	149516582	1	4	185	0	1	0	0	0	0	0	0	0	15219	912	32	1		1	SSPO	7	149516582	RNA	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2690738	149516582	9622081	685	34960										
GIMAP2	26157	genome.wustl.edu	37	chr7	150389519	150389519	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcctcaggaagcaagcatttGaatcgaagctgggttcccag	11	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150389519G>A	ENST00000223293.5	+	3	239	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	49	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAAGCATTTGAATCGAAGCT	0.478																																																	0													75	71	72					7																	150389519		2203	4300	6503	SO:0001583	missense	26157			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.145G>A	7.37:g.150389519G>A	ENSP00000223293:p.Glu49Lys		Q96L25	Missense_Mutation	SNP	pfam_AIG1	p.E49K	ENST00000223293.5	37	c.145	CCDS5905.1	7	.	.	.	.	.	.	.	.	.	.	G	9.795	1.178910	0.21787	.	.	ENSG00000106560	ENST00000223293	T	0.61040	0.14	3.8	1.69	0.24217	AIG1 (1);	0.303339	0.30639	N	0.009195	T	0.40448	0.1117	L	0.31845	0.965	0.40221	D	0.97773	B	0.27416	0.178	B	0.29353	0.101	T	0.13442	-1.0509	10	0.13470	T	0.59	.	9.2623	0.37619	0.0:0.4367:0.5633:0.0	.	49	Q9UG22	GIMA2_HUMAN	K	49	ENSP00000223293:E49K	ENSP00000223293:E49K	E	+	1	0	GIMAP2	150020452	0.000000	0.05858	0.225000	0.23894	0.204000	0.24138	-0.415000	0.07106	0.908000	0.36671	0.609000	0.83330	GAA	GIMAP2	-	pfam_AIG1		0.478	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	HGNC	protein_coding	OTTHUMT00000348948.1	G	NM_015660		150389519	1	no_errors	ENST00000223293	ensembl	human	known	70_37	missense	SNP	0.634	A	A	150389519	G	A	150389519	3	1	185	1	0	0	0	0	1	0	0	0	6399	1291	45	1	151	1	GIMAP2	7	150389519	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	872937	150389519	8749144	686	34961										
GIMAP1	170575	genome.wustl.edu	37	chr7	150417411	150417411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agagaggtcactgctacctgCtctcggcccccggaccccac	10	18	2	1	rs371565531		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150417411C>A	ENST00000307194.5	+	3	459	c.319C>A	c.(319-321)Ctc>Atc	p.L107I		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	107	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCTACCTGCTCTCGGCCCC	0.632																																																	0													49	44	46					7																	150417411		2203	4300	6503	SO:0001583	missense	170575			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.319C>A	7.37:g.150417411C>A	ENSP00000302833:p.Leu107Ile		B2RCI3|Q8NAZ0	Missense_Mutation	SNP	pfam_AIG1	p.L107I	ENST00000307194.5	37	c.319	CCDS5906.1	7	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099368	0.37048	.	.	ENSG00000213203	ENST00000307194	T	0.07800	3.16	4.72	3.85	0.44370	AIG1 (1);	0.777468	0.10978	U	0.612966	T	0.28466	0.0704	M	0.83483	2.645	0.09310	N	1	P	0.43633	0.813	P	0.60473	0.875	T	0.05007	-1.0912	10	0.56958	D	0.05	.	8.5576	0.33492	0.0:0.8955:0.0:0.1045	.	107	Q8WWP7	GIMA1_HUMAN	I	107	ENSP00000302833:L107I	ENSP00000302833:L107I	L	+	1	0	GIMAP1	150048344	0.061000	0.20836	0.877000	0.34402	0.079000	0.17450	0.772000	0.26647	1.235000	0.43724	0.655000	0.94253	CTC	GIMAP1	-	pfam_AIG1		0.632	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP1	HGNC	protein_coding	OTTHUMT00000348951.2	C	NM_130759		150417411	1	no_errors	ENST00000307194	ensembl	human	known	70_37	missense	SNP	0.086	A	A	150417411	C	A	150417411	3	1	185	1	0	0	0	0	1	0	0	0	6398	797	28	4	325	4	GIMAP1	7	150417411	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	27892	150417411	8721252	687	34962										
NOS3	4846	genome.wustl.edu	37	chr7	150709545	150709545	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctggcaggagcggctgcatGacattgagagcaaaggtgag	16	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150709545G>A	ENST00000297494.3	+	24	3448	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.D825N|ATG9B_ENST00000377974.2_3'UTR|NOS3_ENST00000477227.1_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGCTGCATGACATTGAGAG	0.607											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													30	30	30					7																	150709545		2203	4300	6503	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3091G>A	7.37:g.150709545G>A	ENSP00000297494:p.Asp1031Asn	1734	Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D1031N	ENST00000297494.3	37	c.3091	CCDS5912.1	7	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613564	0.87359	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	D;D	0.87412	-2.25;-2.25	4.81	4.81	0.61882	Oxidoreductase FAD/NAD(P)-binding (1);	0.083890	0.49916	D	0.000138	D	0.88603	0.6481	L	0.47078	1.49	0.80722	D	1	P;B	0.40000	0.698;0.267	P;B	0.50934	0.654;0.344	D	0.88832	0.3306	10	0.52906	T	0.07	-18.3237	15.4556	0.75311	0.0:0.0:1.0:0.0	.	825;1031	E7ESA7;P29474	.;NOS3_HUMAN	N	1031;825	ENSP00000297494:D1031N;ENSP00000417143:D825N	ENSP00000297494:D1031N	D	+	1	0	NOS3	150340478	1.000000	0.71417	0.959000	0.39883	0.950000	0.60333	4.671000	0.61590	2.492000	0.84095	0.655000	0.94253	GAC	NOS3	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met		0.607	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150709545	1	no_errors	ENST00000297494	ensembl	human	known	70_37	missense	SNP	0.997	A	A	150709545	G	A	150709545	3	1	185	1	0	0	0	0	1	0	0	0	10568	1290	45	1	3463	1	NOS3	7	150709545	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	292134	150709545	8429118	688	34963										
ACCN3	9311	genome.wustl.edu	37	chr7	150747872	150747872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcctgccaccgccctggggcGattgcagttcagcatctctg	11	15	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:150747872G>A	ENST00000349064.5	+	4	1039	c.841G>A	c.(841-843)Gat>Aat	p.D281N	ASIC3_ENST00000297512.8_Missense_Mutation_p.D281N|ASIC3_ENST00000357922.4_Missense_Mutation_p.D281N	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	281					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										GCCCTGGGGCGATTGCAGTTC	0.647																																																	0													32	37	35					7																	150747872		2203	4300	6503	SO:0001583	missense	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"Ion channels / Acid-sensing (proton-gated) ion channels"	101	protein-coding gene	gene with protein product	"testis sodium channel 1"	611741	"amiloride-sensitive cation channel 3, testis", "amiloride-sensitive cation channel 3"	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.841G>A	7.37:g.150747872G>A	ENSP00000344838:p.Asp281Asn		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.D281N	ENST00000349064.5	37	c.841	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240613	0.39598	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.64803	-0.12;-0.12;-0.12	5.06	5.06	0.68205	.	0.000000	0.40144	U	0.001175	T	0.39963	0.1098	L	0.33753	1.03	0.36580	D	0.873481	B;B;P	0.39624	0.191;0.039;0.681	B;B;B	0.23018	0.036;0.01;0.043	T	0.48055	-0.9068	10	0.15499	T	0.54	-32.6936	9.8632	0.41127	0.0939:0.0:0.9061:0.0	.	281;281;281	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	N	281	ENSP00000350600:D281N;ENSP00000344838:D281N;ENSP00000297512:D281N	ENSP00000297512:D281N	D	+	1	0	ACCN3	150378805	0.217000	0.23597	0.817000	0.32601	0.921000	0.55340	0.547000	0.23299	2.501000	0.84356	0.650000	0.86243	GAT	ASIC3	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC		0.647	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	G	NM_004769		150747872	1	no_errors	ENST00000297512	ensembl	human	known	70_37	missense	SNP	0.263	A	A	150747872	G	A	150747872	3	1	185	1	0	0	0	0	1	0	0	0	130	1058	37	1	855	1	ACCN3	7	150747872	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	38327	150747872	8390791	689	34964										
MLL3	58508	genome.wustl.edu	37	chr7	151877932	151877932	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggagtgcattggagagtttGaagatgcacagaagctcccc	14	8	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:151877932G>A	ENST00000262189.6	-	36	7231	c.7013C>T	c.(7012-7014)tCa>tTa	p.S2338L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2338L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2338					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAGAGTTTGAAGATGCACA	0.493																																																	0													106	90	96					7																	151877932		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7013C>T	7.37:g.151877932G>A	ENSP00000262189:p.Ser2338Leu		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2338L	ENST00000262189.6	37	c.7013	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029232	0.07589	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84223	-1.82;-1.82	5.25	4.38	0.52667	.	0.652169	0.12570	N	0.457416	T	0.79393	0.4438	L	0.51422	1.61	0.80722	D	1	B;P	0.34587	0.049;0.458	B;B	0.28465	0.026;0.09	T	0.77648	-0.2509	10	0.72032	D	0.01	.	8.3752	0.32438	0.1435:0.1293:0.7271:0.0	.	2338;1399	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	L	2338	ENSP00000262189:S2338L;ENSP00000347325:S2338L	ENSP00000262189:S2338L	S	-	2	0	MLL3	151508865	1.000000	0.71417	0.012000	0.15200	0.012000	0.07955	2.513000	0.45494	1.356000	0.45884	0.650000	0.86243	TCA	MLL3	-	NULL		0.493	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151877932	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.717	A	A	151877932	G	A	151877932	3	1	185	1	0	0	0	0	1	0	0	0	9645	1294	45	1	7818	1	MLL3	7	151877932	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1130060	151877932	7260731	690	34965										
MLL3	58508	genome.wustl.edu	37	chr7	151902229	151902229	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actgctcggaaatagagcctGaggaatcttttctgatcaca	9	9	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:151902229G>C	ENST00000262189.6	-	25	4141	c.3923C>G	c.(3922-3924)tCa>tGa	p.S1308*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1308*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1308					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AATAGAGCCTGAGGAATCTTT	0.358																																																	0													75	66	69					7																	151902229		2203	4299	6502	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3923C>G	7.37:g.151902229G>C	ENSP00000262189:p.Ser1308*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S1308*	ENST00000262189.6	37	c.3923	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	46	12.168410	0.99643	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.71	5.71	0.89125	.	0.000000	0.37715	N	0.001979	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8604	0.96781	0.0:0.0:1.0:0.0	.	.	.	.	X	1308	.	ENSP00000262189:S1308X	S	-	2	0	MLL3	151533162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.839000	0.92120	2.699000	0.92147	0.650000	0.86243	TCA	MLL3	-	NULL		0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151902229	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	151902229	G	C	151902229	4	2	185	1	0	0	0	0	0	1	0	0	9645	1294	45	1	10952	1	MLL3	7	151902229	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	24297	151902229	7236434	691	34966										
INSIG1	3638	genome.wustl.edu	37	chr7	155090103	155090103	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggcggccaaggttggggaGatgatcaacgtttccgtgtc	15	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:155090103G>C	ENST00000340368.4	+	2	319	c.108G>C	c.(106-108)gaG>gaC	p.E36D	INSIG1_ENST00000344756.4_Intron|AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000342407.5_Missense_Mutation_p.E36D	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	36					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTTGGGGAGATGATCAACG	0.741																																																	0													7	8	8					7																	155090103		2086	3999	6085	SO:0001583	missense	3638				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"INSIG-1 membrane protein"	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.108G>C	7.37:g.155090103G>C	ENSP00000344741:p.Glu36Asp		A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	pfam_INSIG_fam	p.E36D	ENST00000340368.4	37	c.108	CCDS5938.1	7	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574951	0.28092	.	.	ENSG00000186480	ENST00000340368;ENST00000425172;ENST00000342407	T;T;T	0.51071	0.72;0.75;0.77	4.27	-8.54	0.00912	.	0.530450	0.19523	N	0.112221	T	0.20536	0.0494	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.05566	-1.0877	10	0.23302	T	0.38	.	9.562	0.39376	0.3845:0.1799:0.4356:0.0	.	36;36	A4D2N1;O15503	.;INSI1_HUMAN	D	36	ENSP00000344741:E36D;ENSP00000414691:E36D;ENSP00000344035:E36D	ENSP00000344741:E36D	E	+	3	2	INSIG1	154721036	0.967000	0.33354	0.002000	0.10522	0.243000	0.25628	0.063000	0.14410	-1.528000	0.01756	0.485000	0.47835	GAG	INSIG1	-	NULL		0.741	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG1	HGNC	protein_coding	OTTHUMT00000322244.3	G	NM_198336		155090103	1	no_errors	ENST00000340368	ensembl	human	known	70_37	missense	SNP	0.507	C	C	155090103	G	C	155090103	3	2	185	1	0	0	0	0	1	0	0	0	7785	933	33	1	110	1	INSIG1	7	155090103	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3187874	155090103	4048560	692	34967										
NOM1	64434	genome.wustl.edu	37	chr7	156755773	156755773	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtgtcttgagtgcggagcaGacgggtcgctggtggattgt	18	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:156755773G>C	ENST00000275820.3	+	6	1830	c.1815G>C	c.(1813-1815)caG>caC	p.Q605H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	605						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GTGCGGAGCAGACGGGTCGCT	0.597																																																	0													52	47	49					7																	156755773		2203	4300	6503	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1815G>C	7.37:g.156755773G>C	ENSP00000275820:p.Gln605His		Q96I08	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.Q605H	ENST00000275820.3	37	c.1815	CCDS34787.1	7	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257069	0.22965	.	.	ENSG00000146909	ENST00000275820	T	0.12255	2.7	4.64	0.676	0.17958	.	0.427798	0.26470	N	0.024181	T	0.10252	0.0251	L	0.47716	1.5	0.35233	D	0.777077	B	0.16166	0.016	B	0.13407	0.009	T	0.14227	-1.0480	10	0.33940	T	0.23	-19.3673	5.3962	0.16271	0.2943:0.136:0.5697:0.0	.	605	Q5C9Z4	NOM1_HUMAN	H	605	ENSP00000275820:Q605H	ENSP00000275820:Q605H	Q	+	3	2	NOM1	156448534	1.000000	0.71417	0.015000	0.15790	0.655000	0.38815	0.939000	0.28978	-0.082000	0.12640	0.555000	0.69702	CAG	NOM1	-	NULL		0.597	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOM1	HGNC	protein_coding	OTTHUMT00000327098.1	G	NM_138400		156755773	1	no_errors	ENST00000275820	ensembl	human	known	70_37	missense	SNP	0.605	C	C	156755773	G	C	156755773	3	2	185	1	0	0	0	0	1	0	0	0	10554	933	33	1	1837	1	NOM1	7	156755773	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1665670	156755773	2382890	693	34968										
NOM1	64434	genome.wustl.edu	37	chr7	156759087	156759087	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaattctgtgaatatgaaagGagatttcaggtagcttagtg	11	3	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr7:156759087G>C	ENST00000275820.3	+	8	2172	c.2157G>C	c.(2155-2157)agG>agC	p.R719S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	719	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AATATGAAAGGAGATTTCAGG	0.453																																																	0													147	128	134					7																	156759087		2203	4300	6503	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2157G>C	7.37:g.156759087G>C	ENSP00000275820:p.Arg719Ser		Q96I08	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.R719S	ENST00000275820.3	37	c.2157	CCDS34787.1	7	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286945	0.59867	.	.	ENSG00000146909	ENST00000275820	T	0.28454	1.61	4.91	3.1	0.35709	Initiation factor eIF-4 gamma, MA3 (3);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46484	-0.9188	10	0.51188	T	0.08	-34.184	9.342	0.38085	0.2553:0.0:0.7447:0.0	.	719	Q5C9Z4	NOM1_HUMAN	S	719	ENSP00000275820:R719S	ENSP00000275820:R719S	R	+	3	2	NOM1	156451848	0.829000	0.29322	0.291000	0.24904	0.943000	0.58893	0.145000	0.16157	0.478000	0.27488	0.655000	0.94253	AGG	NOM1	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.453	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOM1	HGNC	protein_coding	OTTHUMT00000327098.1	G	NM_138400		156759087	1	no_errors	ENST00000275820	ensembl	human	known	70_37	missense	SNP	1.000	C	C	156759087	G	C	156759087	3	2	185	1	0	0	0	0	1	0	0	0	10554	1165	41	1	2187	1	NOM1	7	156759087	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3314	156759087	2379576	694	34969										
CSMD1	64478	genome.wustl.edu	37	chr8	2796226	2796226	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcttgtccattgctgttttCatgcccagcatagccattgt	8	11	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:2796226C>T	ENST00000520002.1	-	71	11134	c.10579G>A	c.(10579-10581)Gaa>Aaa	p.E3527K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E3350K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3350K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E3349K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3527K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3526K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3527						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCTGTTTTCATGCCCAGCA	0.403																																																	0													252	221	231					8																	2796226		1910	4107	6017	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10579G>A	8.37:g.2796226C>T	ENSP00000430733:p.Glu3527Lys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E3527K	ENST00000520002.1	37	c.10579		8	.	.	.	.	.	.	.	.	.	.	C	36	5.655612	0.96724	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.38401	1.14;1.47;1.49;1.15	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.985;0.998;0.996	T	0.62120	-0.6921	10	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	3527;3527;3349	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	K	3350;3527;3388;3526;3349	ENSP00000383047:E3350K;ENSP00000430733:E3527K;ENSP00000441462:E3526K;ENSP00000446243:E3349K	ENSP00000320445:E3388K	E	-	1	0	CSMD1	2783633	1.000000	0.71417	0.901000	0.35422	0.959000	0.62525	7.629000	0.83207	2.804000	0.96469	0.655000	0.94253	GAA	CSMD1	-	NULL		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		2796226	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2796226	C	T	2796226	3	4	185	1	0	0	0	0	1	0	0	0	3949	835	29	1	122	1	CSMD1	8	2796226	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		2796226	143567796	695	34970										
PCM1	5108	genome.wustl.edu	37	chr8	17843594	17843594	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agagccttgctactactgatGatgtaagctgataatgatta	9	6	0	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:17843594G>C	ENST00000519253.1	+	26	4659	c.4408G>C	c.(4408-4410)Gat>Cat	p.D1470H	PCM1_ENST00000327578.8_Missense_Mutation_p.D169H|PCM1_ENST00000524226.1_Missense_Mutation_p.D1416H|PCM1_ENST00000325083.8_Missense_Mutation_p.D1470H			Q15154	PCM1_HUMAN	pericentriolar material 1	1470	Interaction with HAP1.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.			centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TACTACTGATGATGTAAGCTG	0.318			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0													79	76	77					8																	17843594		1824	4078	5902	SO:0001583	missense	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.4408G>C	8.37:g.17843594G>C	ENSP00000431099:p.Asp1470His		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.D1470H	ENST00000519253.1	37	c.4408		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.95|16.95	3.263046|3.263046	0.59431|0.59431	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578|ENST00000522275	T;T;T;T|.	0.71934|.	-0.61;-0.61;-0.61;-0.61|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.159504|.	0.56097|.	D|.	0.000032|.	T|T	0.69196|0.69196	0.3084|0.3084	L|L	0.47716|0.47716	1.5|1.5	0.53005|0.53005	D|D	0.999968|0.999968	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.998;1.0|.	D;D;D;D;D;D;D|.	0.87578|.	0.98;0.98;0.998;0.98;0.98;0.984;0.98|.	T|T	0.64795|0.64795	-0.6323|-0.6323	10|5	0.72032|.	D|.	0.01|.	-25.4447|-25.4447	18.9693|18.9693	0.92708|0.92708	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1470;1470;277;1470;1415;1416;1470|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154|.	.;.;.;.;.;.;PCM1_HUMAN|.	H|I	1470;1470;1416;169|209	ENSP00000327077:D1470H;ENSP00000431099:D1470H;ENSP00000430521:D1416H;ENSP00000328332:D169H|.	ENSP00000327077:D1470H|.	D|M	+|+	1|3	0|0	PCM1|PCM1	17887874|17887874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.506000|6.506000	0.73712|0.73712	2.790000|2.790000	0.95986|0.95986	0.650000|0.650000	0.86243|0.86243	GAT|ATG	PCM1	-	NULL		0.318	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	G	NM_006197		17843594	1	no_errors	ENST00000325083	ensembl	human	known	70_37	missense	SNP	1.000	C	C	17843594	G	C	17843594	3	2	185	1	0	0	0	0	1	0	0	0	11608	1290	45	1	4502	1	PCM1	8	17843594	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	15047368	17843594	128520428	696	34971										
XPO7	23039	genome.wustl.edu	37	chr8	21856640	21856640	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taggagaggtcccaaaggatCaggtctatgctctgaagctc	12	9	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:21856640C>G	ENST00000252512.9	+	23	2567	c.2467C>G	c.(2467-2469)Cag>Gag	p.Q823E	XPO7_ENST00000433566.4_Missense_Mutation_p.Q824E|XPO7_ENST00000434536.1_Missense_Mutation_p.Q832E	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	823					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCCAAAGGATCAGGTCTATGC	0.473																																																	0													229	219	222					8																	21856640		2059	4227	6286	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2467C>G	8.37:g.21856640C>G	ENSP00000252512:p.Gln823Glu		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q832E	ENST00000252512.9	37	c.2494	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784105	0.70222	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	D;D;D	0.82619	-1.63;-1.63;-1.63	5.87	5.87	0.94306	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	M	0.67517	2.055	0.80722	D	1	B;B;B	0.19935	0.04;0.001;0.001	B;B;B	0.18561	0.022;0.002;0.002	T	0.75434	-0.3319	10	0.02654	T	1	-12.5922	19.802	0.96511	0.0:1.0:0.0:0.0	.	824;832;823	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	E	832;823;824	ENSP00000404853:Q832E;ENSP00000252512:Q823E;ENSP00000410249:Q824E	ENSP00000252512:Q823E	Q	+	1	0	XPO7	21912586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.779000	0.95612	0.655000	0.94253	CAG	XPO7	-	superfamily_ARM-type_fold		0.473	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	C	NM_015024		21856640	1	no_errors	ENST00000434536	ensembl	human	known	70_37	missense	SNP	1.000	G	G	21856640	C	G	21856640	3	3	185	1	0	0	0	0	1	0	0	0	17480	827	29	1	2609	1	XPO7	8	21856640	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4013046	21856640	124507382	697	34972										
LGI3	203190	genome.wustl.edu	37	chr8	22009023	22009023	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggattctatcatagtctcGaagctgccgctcaacatagt	9	10	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:22009023G>A	ENST00000306317.2	-	7	1097	c.808C>T	c.(808-810)Cga>Tga	p.R270*	LGI3_ENST00000424267.2_Nonsense_Mutation_p.R246*	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	270					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TCATAGTCTCGAAGCTGCCGC	0.577																																																	0													101	107	105					8																	22009023		2203	4300	6503	SO:0001587	stop_gained	203190			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.808C>T	8.37:g.22009023G>A	ENSP00000302297:p.Arg270*		A5PLP2|Q86TL4|Q8N296	Nonsense_Mutation	SNP	pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R270*	ENST00000306317.2	37	c.808	CCDS6025.1	8	.	.	.	.	.	.	.	.	.	.	G	38	6.895097	0.97916	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	.	.	.	5.11	5.11	0.69529	.	0.067691	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8938	11.1817	0.48631	0.0:0.0:0.8164:0.1836	.	.	.	.	X	270;246	.	ENSP00000302297:R270X	R	-	1	2	LGI3	22064968	0.844000	0.29557	1.000000	0.80357	0.906000	0.53458	1.555000	0.36277	2.365000	0.80145	0.650000	0.86243	CGA	LGI3	-	pfam_EPTP,pfscan_EAR		0.577	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI3	HGNC	protein_coding	OTTHUMT00000254482.1	G			22009023	-1	no_errors	ENST00000306317	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	22009023	G	A	22009023	4	1	185	1	0	0	0	0	0	1	0	0	8773	1066	37	1	846	1	LGI3	8	22009023	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	152383	22009023	124354999	698	34973										
BMP1	649	genome.wustl.edu	37	chr8	22064467	22064467	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagtgcacgtgggccatctcCagcacccccgggcaccgggt	14	16	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:22064467C>A	ENST00000306385.5	+	17	3004	c.2334C>A	c.(2332-2334)tcC>tcA	p.S778S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	778	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGGCCATCTCCAGCACCCCCG	0.642																																																	0													81	62	68					8																	22064467		2203	4300	6503	SO:0001819	synonymous_variant	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2334C>A	8.37:g.22064467C>A			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.S778	ENST00000306385.5	37	c.2334	CCDS6026.1	8																																																																																			BMP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.642	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	C	NM_006132		22064467	1	no_errors	ENST00000306385	ensembl	human	known	70_37	silent	SNP	0.978	A	A	22064467	C	A	22064467	2	1	185	1	0	0	0	0	0	0	0	1	1457	581	21	4		4	BMP1	8	22064467	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	55444	22064467	124299555	699	34974										
PHYHIP	9796	genome.wustl.edu	37	chr8	22081786	22081786	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggttgcggtagaagacggaGaagcggagcatgcggcctgc	18	8	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:22081786G>A	ENST00000321613.3	-	5	867	c.411C>T	c.(409-411)ttC>ttT	p.F137F	PHYHIP_ENST00000454243.2_Silent_p.F137F	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	137										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGAAGACGGAGAAGCGGAGCA	0.627																																																	0													43	60	54					8																	22081786		2125	4239	6364	SO:0001819	synonymous_variant	9796			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.411C>T	8.37:g.22081786G>A			D3DSR1|Q8N4I9	Silent	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.F137	ENST00000321613.3	37	c.411	CCDS43723.1	8																																																																																			PHYHIP	-	NULL		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	G	NM_014759		22081786	-1	no_errors	ENST00000454243	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22081786	G	A	22081786	2	1	185	1	0	0	0	0	0	0	0	1	11890	933	33	1		1	PHYHIP	8	22081786	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	17319	22081786	124282236	700	34975										
TNFRSF10D	8793	genome.wustl.edu	37	chr8	23004583	23004583	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acaggaacttttatttgtttGacctgacaacagagcataag	8	7	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:23004583G>A	ENST00000312584.3	-	4	467	c.373C>T	c.(373-375)Caa>Taa	p.Q125*		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	125					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTATTTGTTTGACCTGACAAC	0.493																																																	0													132	124	127					8																	23004583		2203	4300	6503	SO:0001587	stop_gained	8793			AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"Tumor necrosis factor receptor superfamily", "CD molecules"	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.373C>T	8.37:g.23004583G>A	ENSP00000310263:p.Gln125*		B2R8W0|Q9Y6Q4	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.Q125*	ENST00000312584.3	37	c.373	CCDS6038.1	8	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607927	0.28623	.	.	ENSG00000173530	ENST00000312584	.	.	.	1.93	-2.91	0.05631	.	0.345816	0.26788	U	0.022491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	1.5761	0.02624	0.1933:0.2565:0.4008:0.1493	.	.	.	.	X	125	.	ENSP00000310263:Q125X	Q	-	1	0	TNFRSF10D	23060528	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.854000	0.04299	-0.867000	0.04063	-1.801000	0.00618	CAA	TNFRSF10D	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.493	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10D	HGNC	protein_coding	OTTHUMT00000215135.1	G			23004583	-1	no_errors	ENST00000312584	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	23004583	G	A	23004583	4	1	185	1	0	0	0	0	0	1	0	0	16313	1299	45	1	811	1	TNFRSF10D	8	23004583	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	922797	23004583	123359439	701	34976										
LOXL2	4017	genome.wustl.edu	37	chr8	23159627	23159627	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacatgtcccagcagcccatGgtgatgccctgatcgccgaa	10	14	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:23159627G>C	ENST00000389131.3	-	12	2415	c.2046C>G	c.(2044-2046)acC>acG	p.T682T		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	682	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGCAGCCCATGGTGATGCCCT	0.592																																																	0													169	128	142					8																	23159627		2203	4300	6503	SO:0001819	synonymous_variant	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2046C>G	8.37:g.23159627G>C			B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.T682	ENST00000389131.3	37	c.2046	CCDS34864.1	8																																																																																			LOXL2	-	pfam_Lysyl_oxidase,prints_Lysyl_oxidase		0.592	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	G			23159627	-1	no_errors	ENST00000389131	ensembl	human	known	70_37	silent	SNP	0.998	C	C	23159627	G	C	23159627	2	2	185	1	0	0	0	0	0	0	0	1	8923	1335	47	4		4	LOXL2	8	23159627	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	155044	23159627	123204395	702	34977										
CDCA2	157313	genome.wustl.edu	37	chr8	25317769	25317769	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcttagatggatgccaattCaaaagacaagccccctgaaa	7	11	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:25317769C>G	ENST00000330560.3	+	2	491	c.14C>G	c.(13-15)tCa>tGa	p.S5*	KCTD9_ENST00000221200.4_5'Flank|KCTD9_ENST00000518067.1_5'Flank|CDCA2_ENST00000380665.3_5'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	5					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GATGCCAATTCAAAAGACAAG	0.418																																																	0													164	151	155					8																	25317769		2203	4300	6503	SO:0001587	stop_gained	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.14C>G	8.37:g.25317769C>G	ENSP00000328228:p.Ser5*		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Nonsense_Mutation	SNP	NULL	p.S5*	ENST00000330560.3	37	c.14	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	C	40	7.970104	0.98588	.	.	ENSG00000184661	ENST00000330560;ENST00000435898	.	.	.	5.07	3.27	0.37495	.	0.640640	0.13748	N	0.365479	.	.	.	.	.	.	0.25937	N	0.982921	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.3805	7.9408	0.29957	0.0:0.8084:0.0:0.1916	.	.	.	.	X	5	.	ENSP00000328228:S5X	S	+	2	0	CDCA2	25373686	0.009000	0.17119	0.005000	0.12908	0.702000	0.40608	0.501000	0.22578	0.528000	0.28580	0.455000	0.32223	TCA	CDCA2	-	NULL		0.418	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	C	NM_152562		25317769	1	no_errors	ENST00000330560	ensembl	human	known	70_37	nonsense	SNP	0.024	G	G	25317769	C	G	25317769	4	3	185	1	0	0	0	0	0	1	0	0	3091	838	29	1	16	1	CDCA2	8	25317769	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2158142	25317769	121046253	703	34978										
ADRA1A	148	genome.wustl.edu	37	chr8	26722241	26722241	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggacctcgaagatggcggaGaagggcagcaccgtggaggt	18	8	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:26722241G>A	ENST00000519229.1	-	1	252	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ADRA1A_ENST00000358857.5_Silent_p.F82F|ADRA1A_ENST00000380582.3_Silent_p.F82F|ADRA1A_ENST00000354550.4_Silent_p.F82F|ADRA1A_ENST00000380573.3_Silent_p.F82F|ADRA1A_ENST00000276393.4_Silent_p.F82F|ADRA1A_ENST00000380581.2_Silent_p.F82F|ADRA1A_ENST00000380572.3_Silent_p.F82F|ADRA1A_ENST00000380587.1_Silent_p.F82F|ADRA1A_ENST00000380586.1_Silent_p.F82F			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	152				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AGATGGCGGAGAAGGGCAGCA	0.622																																																	0													167	165	166					8																	26722241		2203	4300	6503	SO:0001819	synonymous_variant	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.246C>T	8.37:g.26722241G>A			Q9NPY0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.F82	ENST00000519229.1	37	c.246		8																																																																																			ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt		0.622	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	G	NM_033303		26722241	-1	no_errors	ENST00000380586	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26722241	G	A	26722241	2	1	185	1	0	0	0	0	0	0	0	1	334	933	33	1		1	ADRA1A	8	26722241	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1404472	26722241	119641781	704	34979										
KIF13B	23303	genome.wustl.edu	37	chr8	29023247	29023247	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catttcctggattagcttctCagattcttccagccggtcct	7	13	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:29023247C>G	ENST00000524189.1	-	12	1239	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.E401Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	401					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATTAGCTTCTCAGATTCTTCC	0.433																																																	0													118	113	115					8																	29023247		1854	4101	5955	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1201G>C	8.37:g.29023247C>G	ENSP00000427900:p.Glu401Gln		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E401Q	ENST00000524189.1	37	c.1201	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491740	0.84962	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.80738	-1.41;-1.26	5.26	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.88243	0.6384	M	0.66506	2.035	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.984	D;D;D	0.85130	0.986;0.997;0.924	D	0.89215	0.3567	10	0.59425	D	0.04	.	15.4179	0.74987	0.14:0.86:0.0:0.0	.	387;401;401	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	Q	401	ENSP00000427900:E401Q;ENSP00000429201:E401Q	ENSP00000429201:E401Q	E	-	1	0	KIF13B	29079166	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.604000	0.82830	1.433000	0.47394	0.655000	0.94253	GAG	KIF13B	-	NULL		0.433	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	C			29023247	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29023247	C	G	29023247	3	3	185	1	0	0	0	0	1	0	0	0	8295	835	29	1	4395	1	KIF13B	8	29023247	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2301006	29023247	117340775	705	34980										
TEX15	56154	genome.wustl.edu	37	chr8	30700917	30700917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tattttaacacgtactgcctCgttgttcttaataaaattaa	4	7	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:30700917C>T	ENST00000256246.2	-	1	5691	c.5617G>A	c.(5617-5619)Gag>Aag	p.E1873K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1873					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CGTACTGCCTCGTTGTTCTTA	0.363																																																	0													105	106	106					8																	30700917		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5617G>A	8.37:g.30700917C>T	ENSP00000256246:p.Glu1873Lys			Missense_Mutation	SNP	NULL	p.E1873K	ENST00000256246.2	37	c.5617	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357174	0.41801	.	.	ENSG00000133863	ENST00000256246	T	0.13538	2.58	5.82	5.82	0.92795	.	0.121727	0.36893	N	0.002343	T	0.36963	0.0986	L	0.59436	1.845	0.39628	D	0.970132	D	0.89917	1.0	D	0.91635	0.999	T	0.03969	-1.0988	10	0.87932	D	0	.	18.8857	0.92376	0.0:1.0:0.0:0.0	.	1873	Q9BXT5	TEX15_HUMAN	K	1873	ENSP00000256246:E1873K	ENSP00000256246:E1873K	E	-	1	0	TEX15	30820459	0.996000	0.38824	0.895000	0.35142	0.162000	0.22319	3.664000	0.54525	2.765000	0.95021	0.650000	0.86243	GAG	TEX15	-	NULL		0.363	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30700917	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.918	T	T	30700917	C	T	30700917	3	4	185	1	0	0	0	0	1	0	0	0	15809	893	31	1	2768	1	TEX15	8	30700917	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1677670	30700917	115663105	706	34981										
TEX15	56154	genome.wustl.edu	37	chr8	30700956	30700956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacctttgaggagatcatttCtatgataatccacagatggt	8	7	2	4	rs144848758		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:30700956C>G	ENST00000256246.2	-	1	5652	c.5578G>C	c.(5578-5580)Gaa>Caa	p.E1860Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1860					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGATCATTTCTATGATAATC	0.338																																																	0													87	90	89					8																	30700956		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5578G>C	8.37:g.30700956C>G	ENSP00000256246:p.Glu1860Gln			Missense_Mutation	SNP	NULL	p.E1860Q	ENST00000256246.2	37	c.5578	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402102	0.62288	.	.	ENSG00000133863	ENST00000256246	T	0.14516	2.5	5.82	5.82	0.92795	.	0.218230	0.31519	N	0.007511	T	0.36635	0.0974	L	0.59436	1.845	0.35446	D	0.795293	D	0.89917	1.0	D	0.77557	0.99	T	0.29761	-1.0001	10	0.87932	D	0	.	18.8857	0.92376	0.0:1.0:0.0:0.0	.	1860	Q9BXT5	TEX15_HUMAN	Q	1860	ENSP00000256246:E1860Q	ENSP00000256246:E1860Q	E	-	1	0	TEX15	30820498	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.685000	0.46959	2.765000	0.95021	0.650000	0.86243	GAA	TEX15	-	NULL		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30700956	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30700956	C	G	30700956	3	3	185	1	0	0	0	0	1	0	0	0	15809	922	32	1	2807	1	TEX15	8	30700956	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	39	30700956	115663066	707	34982										
TEX15	56154	genome.wustl.edu	37	chr8	30703646	30703646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actgtgaaaatgttttaattCgtccttgggataatgaagag	10	4	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:30703646C>T	ENST00000256246.2	-	1	2962	c.2888G>A	c.(2887-2889)cGa>cAa	p.R963Q	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	963					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTTTTAATTCGTCCTTGGGA	0.343																																																	0													119	119	119					8																	30703646		2203	4299	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2888G>A	8.37:g.30703646C>T	ENSP00000256246:p.Arg963Gln			Missense_Mutation	SNP	NULL	p.R963Q	ENST00000256246.2	37	c.2888	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120739	0.77436	.	.	ENSG00000133863	ENST00000256246	T	0.23147	1.92	5.62	4.75	0.60458	.	0.150305	0.29602	N	0.011696	T	0.36826	0.0981	L	0.53249	1.67	0.28556	N	0.911388	D	0.76494	0.999	P	0.56865	0.808	T	0.29150	-1.0021	10	0.87932	D	0	.	8.5022	0.33165	0.0:0.8256:0.0:0.1744	.	963	Q9BXT5	TEX15_HUMAN	Q	963	ENSP00000256246:R963Q	ENSP00000256246:R963Q	R	-	2	0	TEX15	30823188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.460000	0.35244	1.378000	0.46305	0.467000	0.42956	CGA	TEX15	-	NULL		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30703646	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30703646	C	T	30703646	3	4	185	1	0	0	0	0	1	0	0	0	15809	884	31	1	5497	1	TEX15	8	30703646	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2690	30703646	115660376	708	34983										
KCNU1	157855	genome.wustl.edu	37	chr8	36793338	36793338	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tagaacaaacagtattatatCatctcagatacctttaggtg	6	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:36793338C>T	ENST00000399881.3	+	27	3387	c.3350C>T	c.(3349-3351)tCa>tTa	p.S1117L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1117					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGTATTATATCATCTCAGATA	0.373																																																	0													121	118	119					8																	36793338		1866	4099	5965	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3350C>T	8.37:g.36793338C>T	ENSP00000382770:p.Ser1117Leu			Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.S1117L	ENST00000399881.3	37	c.3350	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507641	0.27036	.	.	ENSG00000215262	ENST00000399881	T	0.34072	1.38	4.59	1.6	0.23607	.	.	.	.	.	T	0.21387	0.0515	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22138	-1.0225	9	0.72032	D	0.01	.	3.34	0.07115	0.2054:0.5806:0.0:0.214	.	1117	A8MYU2	KCNU1_HUMAN	L	1117	ENSP00000382770:S1117L	ENSP00000382770:S1117L	S	+	2	0	KCNU1	36912496	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.126000	0.15769	0.659000	0.30945	0.655000	0.94253	TCA	KCNU1	-	NULL		0.373	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	C	NM_001031836		36793338	1	no_errors	ENST00000399881	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36793338	C	T	36793338	3	4	185	1	0	0	0	0	1	0	0	0	8113	838	29	1	3456	1	KCNU1	8	36793338	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6089692	36793338	109570684	709	34984										
WHSC1L1	54904	genome.wustl.edu	37	chr8	38173490	38173490	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctctgtatgctgaactagtCatttctacatcagttgaggc	8	9	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:38173490C>G	ENST00000317025.8	-	10	2443	c.1926G>C	c.(1924-1926)atG>atC	p.M642I	WHSC1L1_ENST00000525081.1_5'Flank|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.M642I|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.M642I	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	642					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGAACTAGTCATTTCTACAT	0.423			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													153	147	149					8																	38173490		2096	4222	6318	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1926G>C	8.37:g.38173490C>G	ENSP00000313983:p.Met642Ile		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.M642I	ENST00000317025.8	37	c.1926	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074843	0.36566	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.95307	-3.67;-3.67;-3.67	5.85	5.85	0.93711	.	0.379623	0.22094	U	0.064705	D	0.88742	0.6519	N	0.19112	0.55	0.80722	D	1	B;B;B	0.19200	0.02;0.034;0.02	B;B;B	0.15484	0.006;0.013;0.006	D	0.83631	0.0145	10	0.23302	T	0.38	.	13.3692	0.60703	0.0:0.9284:0.0:0.0716	.	642;642;642	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	I	642;642;579;642	ENSP00000393284:M642I;ENSP00000313983:M642I;ENSP00000434730:M642I	ENSP00000313983:M642I	M	-	3	0	WHSC1L1	38292647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.076000	0.50081	2.772000	0.95346	0.650000	0.86243	ATG	WHSC1L1	-	NULL		0.423	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	C	NM_023034		38173490	-1	no_errors	ENST00000317025	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38173490	C	G	38173490	3	3	185	1	0	0	0	0	1	0	0	0	17394	826	29	1	2447	1	WHSC1L1	8	38173490	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1380152	38173490	108190532	710	34985										
IDO2	169355	genome.wustl.edu	37	chr8	39847293	39847293	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccaaccaggaggccctgctCcaagccctgcagcgactgag	11	17	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:39847293C>G	ENST00000389060.4	+	7	603	c.603C>G	c.(601-603)ctC>ctG	p.L201L	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Silent_p.L214L			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	201					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AGGCCCTGCTCCAAGCCCTGC	0.512											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													69	70	70					8																	39847293		2024	4200	6224	SO:0001819	synonymous_variant	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.603C>G	8.37:g.39847293C>G		889	A4UD41	Silent	SNP	pfam_Indolamine_dOase	p.L214	ENST00000389060.4	37	c.642		8																																																																																			IDO2	-	pfam_Indolamine_dOase		0.512	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	C	NM_194294		39847293	1	no_errors	ENST00000502986	ensembl	human	known	70_37	silent	SNP	0.119	G	G	39847293	C	G	39847293	2	3	185	1	0	0	0	0	0	0	0	1	7522	842	30	1		1	IDO2	8	39847293	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1673803	39847293	106516729	711	34986										
IDO2	169355	genome.wustl.edu	37	chr8	39862883	39862883	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atattttatgcaggcatccgGatctttctctctgggtaagt	9	8	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:39862883G>A	ENST00000389060.4	+	8	705	c.705G>A	c.(703-705)cgG>cgA	p.R235R	IDO2_ENST00000343295.4_Intron|IDO2_ENST00000502986.2_Silent_p.R248R			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	235			R -> W (reduced catalytic activity; dbSNP:rs10109853). {ECO:0000269|PubMed:17671174}.		cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAGGCATCCGGATCTTTCTCT	0.398																																																	0													183	157	165					8																	39862883		1884	4113	5997	SO:0001819	synonymous_variant	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.705G>A	8.37:g.39862883G>A			A4UD41	Silent	SNP	pfam_Indolamine_dOase	p.R248	ENST00000389060.4	37	c.744		8																																																																																			IDO2	-	pfam_Indolamine_dOase		0.398	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	G	NM_194294		39862883	1	no_errors	ENST00000502986	ensembl	human	known	70_37	silent	SNP	1.000	A	A	39862883	G	A	39862883	2	1	185	1	0	0	0	0	0	0	0	1	7522	1161	41	1		1	IDO2	8	39862883	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	15590	39862883	106501139	712	34987										
IKBKB	3551	genome.wustl.edu	37	chr8	42174305	42174305	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatgagagtctgcagagcttGaaggccagaatccaacagga	13	8	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:42174305G>C	ENST00000520810.1	+	11	1194	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.L334F|IKBKB_ENST00000416505.2_Missense_Mutation_p.L277F|IKBKB_ENST00000379708.3_Missense_Mutation_p.L113F	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	336					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TGCAGAGCTTGAAGGCCAGAA	0.567																																																	0													83	74	77					8																	42174305		2203	4300	6503	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1008G>C	8.37:g.42174305G>C	ENSP00000430684:p.Leu336Phe		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L336F	ENST00000520810.1	37	c.1008	CCDS6128.1	8	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241759	0.79912	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.47	-7.88	0.01178	Ubiquitin supergroup (1);	0.145081	0.46758	D	0.000267	T	0.66307	0.2776	M	0.69358	2.11	0.51012	D	0.999906	P;D;P;D;P;D	0.58620	0.883;0.983;0.843;0.971;0.651;0.964	B;D;B;P;P;P	0.66351	0.34;0.943;0.295;0.84;0.483;0.49	T	0.75932	-0.3143	10	0.37606	T	0.19	.	17.9369	0.89015	0.1266:0.1038:0.7697:0.0	.	277;334;113;287;336;336	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	F	336;277;334;113	ENSP00000430684:L336F;ENSP00000404920:L277F;ENSP00000430868:L334F;ENSP00000369030:L113F	ENSP00000369030:L113F	L	+	3	2	IKBKB	42293462	0.493000	0.26035	0.844000	0.33320	0.988000	0.76386	-0.321000	0.08018	-1.260000	0.02465	-0.345000	0.07892	TTG	IKBKB	-	pfscan_Ubiquitin_supergroup		0.567	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	G			42174305	1	no_errors	ENST00000520810	ensembl	human	known	70_37	missense	SNP	0.966	C	C	42174305	G	C	42174305	3	2	185	1	0	0	0	0	1	0	0	0	7631	1281	45	1	1046	1	IKBKB	8	42174305	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2311422	42174305	104189717	713	34988										
KIAA0146	23514	genome.wustl.edu	37	chr8	48614295	48614295	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttaaacagataaaaactcatCtgcctcctccagccttgtgt	5	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:48614295C>G	ENST00000297423.4	+	13	2170	c.1786C>G	c.(1786-1788)Ctg>Gtg	p.L596V	SPIDR_ENST00000517693.1_Missense_Mutation_p.L71V|SPIDR_ENST00000518074.1_Missense_Mutation_p.L536V|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.L526V	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	596					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											AAAAACTCATCTGCCTCCTCC	0.358																																																	0													130	123	125					8																	48614295		1883	4121	6004	SO:0001583	missense	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1786C>G	8.37:g.48614295C>G	ENSP00000297423:p.Leu596Val		B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.L596V	ENST00000297423.4	37	c.1786	CCDS43737.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.58|10.58	1.391105|1.391105	0.25118|0.25118	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000519401|ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362	.|.	.|.	.|.	5.4|5.4	2.58|2.58	0.30949|0.30949	.|.	.|0.546178	.|0.18244	.|N	.|0.147147	T|T	0.27866|0.27866	0.0686|0.0686	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;P;B;B;B;B;B	.|0.35793	.|0.197;0.197;0.521;0.033;0.275;0.129;0.197;0.033	.|B;B;B;B;B;B;B;B	.|0.32533	.|0.09;0.147;0.111;0.046;0.067;0.046;0.09;0.046	T|T	0.23476|0.23476	-1.0187|-1.0187	5|9	.|0.48119	.|T	.|0.1	.|.	3.1974|3.1974	0.06637|0.06637	0.1367:0.5621:0.1452:0.156|0.1367:0.5621:0.1452:0.156	.|.	.|86;101;536;526;596;285;71;596	.|B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159	.|.;.;.;.;.;.;.;K0146_HUMAN	M|V	277|596;536;526;101;71;71	.|.	.|ENSP00000297423:L596V	I|L	+|+	3|1	3|2	KIAA0146|KIAA0146	48776848|48776848	0.034000|0.034000	0.19679|0.19679	0.311000|0.311000	0.25182|0.25182	0.909000|0.909000	0.53808|0.53808	0.066000|0.066000	0.14489|0.14489	0.239000|0.239000	0.21243|0.21243	0.650000|0.650000	0.86243|0.86243	ATC|CTG	KIAA0146	-	NULL		0.358	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	C	NM_001080394		48614295	1	no_errors	ENST00000297423	ensembl	human	known	70_37	missense	SNP	0.184	G	G	48614295	C	G	48614295	3	3	185	1	0	0	0	0	1	0	0	0	8177	912	32	1	1836	1	KIAA0146	8	48614295	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6439990	48614295	97749727	714	34989										
PRKDC	5591	genome.wustl.edu	37	chr8	48686800	48686800	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggtctgttgcctggtccatCaggcacttcacttgagtctc	11	12	4	1	rs192400758		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:48686800C>G	ENST00000314191.2	-	87	12374	c.12318G>C	c.(12316-12318)ctG>ctC	p.L4106L	PRKDC_ENST00000338368.3_Silent_p.L4075L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4107	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCTGGTCCATCAGGCACTTCA	0.522								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													100	94	96					8																	48686800		1941	4147	6088	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.12318G>C	8.37:g.48686800C>G			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L4106	ENST00000314191.2	37	c.12318		8																																																																																			PRKDC	-	pfam_FATC,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom		0.522	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48686800	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	0.933	G	G	48686800	C	G	48686800	2	3	185	1	0	0	0	0	0	0	0	1	12548	813	29	1		1	PRKDC	8	48686800	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	72505	48686800	97677222	715	34990										
PRKDC	5591	genome.wustl.edu	37	chr8	48736444	48736444	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catactgcttagcagcttcaGaataatcacttctggcttct	6	11	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:48736444G>C	ENST00000314191.2	-	65	8950	c.8894C>G	c.(8893-8895)tCt>tGt	p.S2965C	PRKDC_ENST00000338368.3_Missense_Mutation_p.S2965C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2966	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGCAGCTTCAGAATAATCACT	0.378								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													131	127	128					8																	48736444		1852	4097	5949	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8894C>G	8.37:g.48736444G>C	ENSP00000313420:p.Ser2965Cys		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S2965C	ENST00000314191.2	37	c.8894		8	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649667	0.47362	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02525	4.33;4.26	5.29	3.48	0.39840	PIK-related kinase (1);	0.212969	0.39475	N	0.001360	T	0.03220	0.0094	L	0.41027	1.25	0.31671	N	0.644398	B;B	0.14012	0.009;0.009	B;B	0.09377	0.004;0.004	T	0.08764	-1.0706	10	0.35671	T	0.21	.	10.8691	0.46872	0.0707:0.1312:0.798:0.0	.	2965;2966	E7EUY0;P78527	.;PRKDC_HUMAN	C	2965	ENSP00000313420:S2965C;ENSP00000345182:S2965C	ENSP00000313420:S2965C	S	-	2	0	PRKDC	48898997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.564000	0.60830	0.721000	0.32231	0.650000	0.86243	TCT	PRKDC	-	pfscan_PIK_FAT		0.378	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48736444	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48736444	G	C	48736444	3	2	185	1	0	0	0	0	1	0	0	0	12548	942	33	1	3581	1	PRKDC	8	48736444	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	49644	48736444	97627578	716	34991										
RP1	6101	genome.wustl.edu	37	chr8	55537806	55537806	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccccctacacctggactaaGaagagtgagacaaaagaaat	9	10	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:55537806G>C	ENST00000220676.1	+	4	1512	c.1364G>C	c.(1363-1365)aGa>aCa	p.R455T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	455					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTGGACTAAGAAGAGTGAGA	0.418																																					Colon(91;1014 1389 7634 14542 40420)												0													72	73	73					8																	55537806		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1364G>C	8.37:g.55537806G>C	ENSP00000220676:p.Arg455Thr			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R455T	ENST00000220676.1	37	c.1364	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264051	0.59431	.	.	ENSG00000104237	ENST00000220676	T	0.37235	1.21	5.29	2.52	0.30459	.	0.289804	0.29480	N	0.012040	T	0.42810	0.1219	L	0.32530	0.975	0.37463	D	0.915305	D	0.69078	0.997	P	0.62435	0.902	T	0.44236	-0.9341	10	0.87932	D	0	.	10.6204	0.45476	0.209:0.0:0.791:0.0	.	455	P56715	RP1_HUMAN	T	455	ENSP00000220676:R455T	ENSP00000220676:R455T	R	+	2	0	RP1	55700359	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	2.131000	0.42074	0.233000	0.21120	0.655000	0.94253	AGA	RP1	-	NULL		0.418	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55537806	1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.998	C	C	55537806	G	C	55537806	3	2	185	1	0	0	0	0	1	0	0	0	13562	942	33	1	1374	1	RP1	8	55537806	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6801362	55537806	90826216	717	34992										
RP1	6101	genome.wustl.edu	37	chr8	55541492	55541492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcagtcatttggctcttctGaacaggtatctagtagttca	10	8	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:55541492G>A	ENST00000220676.1	+	4	5198	c.5050G>A	c.(5050-5052)Gaa>Aaa	p.E1684K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1684					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGCTCTTCTGAACAGGTATC	0.413																																					Colon(91;1014 1389 7634 14542 40420)												0													159	161	160					8																	55541492		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5050G>A	8.37:g.55541492G>A	ENSP00000220676:p.Glu1684Lys			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1684K	ENST00000220676.1	37	c.5050	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036358	0.35893	.	.	ENSG00000104237	ENST00000220676	T	0.23754	1.89	5.44	3.46	0.39613	.	0.681464	0.12527	N	0.461165	T	0.27663	0.0680	L	0.59436	1.845	0.09310	N	1	P	0.38922	0.651	B	0.33392	0.163	T	0.16897	-1.0387	10	0.87932	D	0	-1.1512	15.6702	0.77267	0.0:0.2773:0.7227:0.0	.	1684	P56715	RP1_HUMAN	K	1684	ENSP00000220676:E1684K	ENSP00000220676:E1684K	E	+	1	0	RP1	55704045	0.009000	0.17119	0.172000	0.22920	0.959000	0.62525	1.653000	0.37323	1.223000	0.43536	0.655000	0.94253	GAA	RP1	-	NULL		0.413	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55541492	1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.049	A	A	55541492	G	A	55541492	3	1	185	1	0	0	0	0	1	0	0	0	13562	1291	45	1	5060	1	RP1	8	55541492	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3686	55541492	90822530	718	34993										
IMPAD1	54928	genome.wustl.edu	37	chr8	57905782	57905782	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgctggggaaggcggtcttGagcaggtagaacatcttgcg	16	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:57905782G>C	ENST00000262644.4	-	1	621	c.363C>G	c.(361-363)ctC>ctG	p.L121L		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	121					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGGCGGTCTTGAGCAGGTAGA	0.647																																																	0													55	49	51					8																	57905782		2201	4300	6501	SO:0001819	synonymous_variant	54928				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.363C>G	8.37:g.57905782G>C			Q6NVY7	Silent	SNP	pfam_Inositol_monophosphatase	p.L121	ENST00000262644.4	37	c.363	CCDS6169.1	8																																																																																			IMPAD1	-	pfam_Inositol_monophosphatase		0.647	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPAD1	HGNC	protein_coding	OTTHUMT00000378665.1	G	NM_017813		57905782	-1	no_errors	ENST00000262644	ensembl	human	known	70_37	silent	SNP	0.999	C	C	57905782	G	C	57905782	2	2	185	1	0	0	0	0	0	0	0	1	7745	1277	45	1		1	IMPAD1	8	57905782	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2364290	57905782	88458240	719	34994										
ASPH	444	genome.wustl.edu	37	chr8	62416044	62416044	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaaaggagtcatcaaagatGagcaccttgccttcctccca	7	13	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:62416044G>C	ENST00000379454.4	-	25	2338	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	ASPH_ENST00000541428.1_Silent_p.L688L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	717					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CATCAAAGATGAGCACCTTGC	0.498																																																	0													125	93	104					8																	62416044		2203	4300	6503	SO:0001819	synonymous_variant	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2151C>G	8.37:g.62416044G>C			A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L717	ENST00000379454.4	37	c.2151	CCDS34898.1	8																																																																																			ASPH	-	pfam_Asp_Arg_b-Hydrxlase		0.498	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	G	NM_004318		62416044	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	silent	SNP	0.999	C	C	62416044	G	C	62416044	2	2	185	1	0	0	0	0	0	0	0	1	1054	1277	45	1		1	ASPH	8	62416044	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4510262	62416044	83947978	720	34995										
C8orf45	157777	genome.wustl.edu	37	chr8	67808472	67808472	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggggaggatattgatcaacaGatgacttttccagttcagtg	12	6	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:67808472G>C	ENST00000422365.2	+	11	1518	c.1347G>C	c.(1345-1347)caG>caC	p.Q449H	MCMDC2_ENST00000541540.1_Missense_Mutation_p.Q386H|MCMDC2_ENST00000313616.5_Missense_Mutation_p.Q449H|MCMDC2_ENST00000396592.3_Missense_Mutation_p.Q449H	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	449					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TTGATCAACAGATGACTTTTC	0.388																																																	0													222	199	207					8																	67808472		2203	4300	6503	SO:0001583	missense	157777			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1347G>C	8.37:g.67808472G>C	ENSP00000413632:p.Gln449His		B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	p.Q449H	ENST00000422365.2	37	c.1347	CCDS6197.2	8	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816068	0.32145	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	6.03	1.13	0.20643	.	0.109084	0.64402	N	0.000005	T	0.23410	0.0566	L	0.50333	1.59	0.47778	D	0.999518	B;B;B	0.14438	0.01;0.006;0.006	B;B;B	0.19391	0.025;0.011;0.011	T	0.04946	-1.0916	10	0.33141	T	0.24	-2.2176	6.0235	0.19642	0.67:0.127:0.2031:0.0	.	386;449;449	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	H	321;449;449;449;386	ENSP00000379837:Q449H;ENSP00000413632:Q449H;ENSP00000317234:Q449H;ENSP00000445629:Q386H	ENSP00000317234:Q449H	Q	+	3	2	C8orf45	67971026	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	1.406000	0.34646	0.170000	0.19704	-0.302000	0.09304	CAG	MCMDC2	-	smart_MCM_DNA-dep_ATPase		0.388	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	G	NM_173518		67808472	1	no_errors	ENST00000422365	ensembl	human	known	70_37	missense	SNP	0.995	C	C	67808472	G	C	67808472	3	2	185	1	0	0	0	0	1	0	0	0	2435	933	33	1	1385	1	C8orf45	8	67808472	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5392428	67808472	78555550	721	34996										
LRRC67	286187	genome.wustl.edu	37	chr8	67926753	67926753	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtcagatttgtggcataattCaggttagtgatttgactaat	10	4	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:67926753C>T	ENST00000324682.5	-	3	348	c.204G>A	c.(202-204)ctG>ctA	p.L68L	PPP1R42_ENST00000522909.1_Silent_p.L68L|PPP1R42_ENST00000517834.1_Intron	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	68					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TGGCATAATTCAGGTTAGTGA	0.318																																																	0													95	105	102					8																	67926753		2203	4289	6492	SO:0001819	synonymous_variant	286187			BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.204G>A	8.37:g.67926753C>T				Silent	SNP	pfam_Leu-rich_rpt	p.L68	ENST00000324682.5	37	c.204	CCDS34902.1	8																																																																																			PPP1R42	-	NULL		0.318	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R42	HGNC	protein_coding	OTTHUMT00000380034.2	C	NM_001013626		67926753	-1	no_errors	ENST00000522909	ensembl	human	known	70_37	silent	SNP	1.000	T	T	67926753	C	T	67926753	2	4	185	1	0	0	0	0	0	0	0	1	9042	813	29	1		1	LRRC67	8	67926753	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	118281	67926753	78437269	722	34997										
NCOA2	10499	genome.wustl.edu	37	chr8	71036975	71036975	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atttatgtcggagggggcctGataggctgggttggcctgag	18	6	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:71036975G>A	ENST00000452400.2	-	20	4223	c.4042C>T	c.(4042-4044)Cag>Tag	p.Q1348*	NCOA2_ENST00000267974.4_Nonsense_Mutation_p.Q436*	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1348					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.Q1348*(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGGGGGCCTGATAGGCTGGG	0.552			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	1	Substitution - Nonsense(1)	endometrium(1)											87	98	94					8																	71036975		1994	4177	6171	SO:0001587	stop_gained	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.4042C>T	8.37:g.71036975G>A	ENSP00000399968:p.Gln1348*		Q14CD2	Nonsense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.Q1348*	ENST00000452400.2	37	c.4042	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.626305	0.97718	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	.	.	.	5.78	5.78	0.91487	.	0.054647	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.0685	0.97708	0.0:0.0:1.0:0.0	.	.	.	.	X	1348;436	.	ENSP00000267974:Q436X	Q	-	1	0	NCOA2	71199529	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.472000	0.97709	2.735000	0.93741	0.650000	0.86243	CAG	NCOA2	-	pirsf_Nuclear_rcpt_coactivator		0.552	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	G			71036975	-1	no_errors	ENST00000452400	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	71036975	G	A	71036975	4	1	185	1	0	0	0	0	0	1	0	0	10253	1299	45	1	368	1	NCOA2	8	71036975	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3110222	71036975	75327047	723	34998										
RDH10	157506	genome.wustl.edu	37	chr8	74235004	74235004	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcactgaccagcccatgatCtgcactccccgcctcatgta	6	18	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:74235004C>G	ENST00000240285.5	+	5	1539	c.861C>G	c.(859-861)atC>atG	p.I287M	RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.I122M	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	287					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			AGCCCATGATCTGCACTCCCC	0.517																																																	0													112	99	104					8																	74235004		2203	4300	6503	SO:0001583	missense	157506			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.861C>G	8.37:g.74235004C>G	ENSP00000240285:p.Ile287Met			Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I287M	ENST00000240285.5	37	c.861	CCDS6213.1	8	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158134	0.78114	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.89939	-2.59;0.51	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.099573	0.64402	D	0.000002	D	0.92694	0.7678	M	0.76170	2.325	0.54753	D	0.999981	D	0.60160	0.987	P	0.59221	0.854	D	0.92668	0.6147	10	0.62326	D	0.03	.	13.9131	0.63881	0.0:0.928:0.0:0.072	.	287	Q8IZV5	RDH10_HUMAN	M	287;122	ENSP00000240285:I287M;ENSP00000428132:I122M	ENSP00000240285:I287M	I	+	3	3	RDH10	74397558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.473000	0.45145	2.894000	0.99253	0.591000	0.81541	ATC	RDH10	-	NULL		0.517	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH10	HGNC	protein_coding	OTTHUMT00000378982.1	C			74235004	1	no_errors	ENST00000240285	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74235004	C	G	74235004	3	3	185	1	0	0	0	0	1	0	0	0	13219	903	32	1	879	1	RDH10	8	74235004	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3198029	74235004	72129018	724	34999										
CRISPLD1	83690	genome.wustl.edu	37	chr8	75944458	75944458	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccaggaggaaaggcattcaGagtgtttgctgttgtgtgaa	14	5	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:75944458G>C	ENST00000262207.4	+	15	1952	c.1484G>C	c.(1483-1485)aGa>aCa	p.R495T	RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.R307T|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.R309T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	495					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGGCATTCAGAGTGTTTGCT	0.313																																																	0													99	101	100					8																	75944458		2203	4300	6503	SO:0001583	missense	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1484G>C	8.37:g.75944458G>C	ENSP00000262207:p.Arg495Thr		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.R495T	ENST00000262207.4	37	c.1484	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	g	23.2	4.388152	0.82902	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.88741	-2.42;-2.42;-2.42	5.8	5.8	0.92144	LCCL (1);	0.574482	0.18864	N	0.129058	D	0.90061	0.6896	M	0.64404	1.975	0.58432	D	0.999999	P;P	0.46706	0.501;0.883	B;B	0.44224	0.118;0.444	D	0.90903	0.4770	10	0.87932	D	0	.	20.0635	0.97698	0.0:0.0:1.0:0.0	.	309;495	B7Z929;Q9H336	.;CRLD1_HUMAN	T	495;307;309	ENSP00000262207:R495T;ENSP00000430105:R307T;ENSP00000429746:R309T	ENSP00000262207:R495T	R	+	2	0	CRISPLD1	76107013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.993000	0.93524	2.733000	0.93635	0.651000	0.88453	AGA	CRISPLD1	-	superfamily_LCCL		0.313	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	G	NM_031461		75944458	1	no_errors	ENST00000262207	ensembl	human	known	70_37	missense	SNP	1.000	C	C	75944458	G	C	75944458	3	2	185	1	0	0	0	0	1	0	0	0	3887	942	33	1	1538	1	CRISPLD1	8	75944458	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1709454	75944458	70419564	725	35000										
PEX2	5828	genome.wustl.edu	37	chr8	77895827	77895827	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aattcagcaaaaccatgccaGagaagttccctattcatgta	6	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:77895827G>C	ENST00000419564.2	-	4	1052	c.588C>G	c.(586-588)ctC>ctG	p.L196L	PEX2_ENST00000522527.1_Silent_p.L196L|PEX2_ENST00000357039.4_Silent_p.L196L|PEX2_ENST00000520103.1_Silent_p.L196L	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	196					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						AACCATGCCAGAGAAGTTCCC	0.388																																																	0													84	88	87					8																	77895827		2203	4300	6503	SO:0001819	synonymous_variant	5828			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"RING-type (C3HC4) zinc fingers"	9717	protein-coding gene	gene with protein product	"Zellweger syndrome", "peroxin 2"	170993	"peroxisomal membrane protein 3 (35kD, Zellweger syndrome)", "peroxisomal membrane protein 3, 35kDa"	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.588C>G	8.37:g.77895827G>C			Q567S6|Q9BW41	Silent	SNP	pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING	p.L196	ENST00000419564.2	37	c.588	CCDS6221.1	8																																																																																			PEX2	-	pfam_Pex_N		0.388	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX2	HGNC	protein_coding	OTTHUMT00000379122.1	G	NM_000318		77895827	-1	no_errors	ENST00000357039	ensembl	human	known	70_37	silent	SNP	1.000	C	C	77895827	G	C	77895827	2	2	185	1	0	0	0	0	0	0	0	1	11769	929	33	1		1	PEX2	8	77895827	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1951369	77895827	68468195	726	35001										
PAG1	55824	genome.wustl.edu	37	chr8	81903729	81903729	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcaccacgttcatcaggttCtcatggtccccactatgctg	7	15	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:81903729C>T	ENST00000220597.4	-	5	872	c.162G>A	c.(160-162)gaG>gaA	p.E54E		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	54					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TCATCAGGTTCTCATGGTCCC	0.502																																																	0													164	136	145					8																	81903729		2203	4300	6503	SO:0001819	synonymous_variant	55824			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.162G>A	8.37:g.81903729C>T			A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	NULL	p.E54	ENST00000220597.4	37	c.162	CCDS6227.1	8																																																																																			PAG1	-	NULL		0.502	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAG1	HGNC	protein_coding	OTTHUMT00000379352.3	C	NM_018440		81903729	-1	no_errors	ENST00000220597	ensembl	human	known	70_37	silent	SNP	1.000	T	T	81903729	C	T	81903729	2	4	185	1	0	0	0	0	0	0	0	1	11412	912	32	1		1	PAG1	8	81903729	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4007902	81903729	64460293	727	35002										
RALYL	138046	genome.wustl.edu	37	chr8	85717004	85717004	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aattttcatattttttcataGacttgaatcaaaggaacctt	4	6	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:85717004G>C	ENST00000521268.1	+	4	1437		c.e4-1		RALYL_ENST00000521695.1_Splice_Site|RALYL_ENST00000522455.1_Splice_Site|RALYL_ENST00000523850.1_Splice_Site|RALYL_ENST00000518566.1_Intron|RALYL_ENST00000517638.1_Splice_Site|RALYL_ENST00000521376.1_Splice_Site	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ttttttCATAGACTTGAATCA	0.234																																																	0													7	6	7					8																	85717004		854	1911	2765	SO:0001630	splice_region_variant	138046				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.333-1G>C	8.37:g.85717004G>C			B3KTH2|G3V129|Q6ZW87|Q8N1C2	Splice_Site	SNP	-	e3-1	ENST00000521268.1	37	c.333-1	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804310	0.70682	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000517638;ENST00000523850;ENST00000521376	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.514	0.75809	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALYL	85879559	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.192000	0.65115	2.724000	0.93272	0.563000	0.77884	.	RALYL	-	-		0.234	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	G		Intron	85717004	1	no_errors	ENST00000521268	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	85717004	G	C	85717004	5	2	185	1	0	0	0	0	0	0	1	0	13050	956	33	1	385	1	RALYL	8	85717004	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3813275	85717004	60647018	728	35003										
FAM82B	51115	genome.wustl.edu	37	chr8	87498804	87498804	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atagctttttctcctcttctGaggttctgctaagctgagct	8	10	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:87498804G>C	ENST00000406452.3	-	4	563	c.404C>G	c.(403-405)tCa>tGa	p.S135*	RMDN1_ENST00000430676.2_Nonsense_Mutation_p.S135*|RMDN1_ENST00000523911.1_Nonsense_Mutation_p.S91*|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000519966.1_Nonsense_Mutation_p.S135*	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	135						microtubule (GO:0005874)|mitochondrion (GO:0005739)											CTCCTCTTCTGAGGTTCTGCT	0.388																																																	0													131	116	121					8																	87498804		2203	4300	6503	SO:0001587	stop_gained	51115			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.404C>G	8.37:g.87498804G>C	ENSP00000385927:p.Ser135*		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Nonsense_Mutation	SNP	NULL	p.S135*	ENST00000406452.3	37	c.404	CCDS34918.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.613533	0.96637	.	.	ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045	.	.	.	5.88	5.88	0.94601	.	0.289393	0.34879	N	0.003620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-5.0689	20.2381	0.98363	0.0:0.0:1.0:0.0	.	.	.	.	X	135;91;135;135;91	.	ENSP00000385927:S135X	S	-	2	0	FAM82B	87567920	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	6.587000	0.74071	2.779000	0.95612	0.650000	0.86243	TCA	FAM82B	-	NULL		0.388	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM82B	HGNC	protein_coding	OTTHUMT00000374770.2	G	NM_016033		87498804	-1	no_errors	ENST00000406452	ensembl	human	known	70_37	nonsense	SNP	0.989	C	C	87498804	G	C	87498804	4	2	185	1	0	0	0	0	0	1	0	0	5650	1294	45	1	568	1	FAM82B	8	87498804	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1781800	87498804	58865218	729	35004										
VPS13B	157680	genome.wustl.edu	37	chr8	100533164	100533164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaagacactgtggttttgaaGattggctctgttgccatggc	13	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:100533164G>C	ENST00000358544.2	+	30	4857	c.4746G>C	c.(4744-4746)aaG>aaC	p.K1582N	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1557N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1582					protein transport (GO:0015031)			p.K1582N(1)|p.K1557N(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTTTTGAAGATTGGCTCTG	0.408																																					Colon(161;2205 2542 7338 31318)												2	Substitution - Missense(2)	lung(2)											146	132	137					8																	100533164		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4746G>C	8.37:g.100533164G>C	ENSP00000351346:p.Lys1582Asn		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.K1582N	ENST00000358544.2	37	c.4746	CCDS6280.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.939229|2.939229	0.52972|0.52972	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000357162;ENST00000358544|ENST00000521559	T;T|.	0.70516|.	-0.49;-0.48|.	5.65|5.65	4.77|4.77	0.60923|0.60923	.|.	0.061993|.	0.64402|.	D|.	0.000010|.	T|T	0.62950|0.62950	0.2470|0.2470	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.992;0.986|.	P;P|.	0.59357|.	0.856;0.722|.	T|T	0.61836|0.61836	-0.6981|-0.6981	10|5	0.72032|.	D|.	0.01|.	.|.	9.3699|9.3699	0.38248|0.38248	0.2175:0.0:0.7825:0.0|0.2175:0.0:0.7825:0.0	.|.	1557;1582|.	Q7Z7G8-2;Q7Z7G8|.	.;VP13B_HUMAN|.	N|T	1557;1582|13	ENSP00000349685:K1557N;ENSP00000351346:K1582N|.	ENSP00000349685:K1557N|.	K|R	+|+	3|2	2|0	VPS13B|VPS13B	100602340|100602340	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.528000|3.528000	0.53524|0.53524	1.336000|1.336000	0.45506|0.45506	0.557000|0.557000	0.71058|0.71058	AAG|AGA	VPS13B	-	NULL		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100533164	1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100533164	G	C	100533164	3	2	185	1	0	0	0	0	1	0	0	0	17221	933	33	1	5054	1	VPS13B	8	100533164	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	13034360	100533164	45830858	730	35005										
AZIN1	51582	genome.wustl.edu	37	chr8	103846971	103846971	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttgcaagcactcgaaacatGaaatctgaaacacatagaat	6	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:103846971G>A	ENST00000337198.5	-	7	1752	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	AZIN1_ENST00000522311.1_5'Flank|AZIN1_ENST00000347770.4_Missense_Mutation_p.H197Y	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	197					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CTCGAAACATGAAATCTGAAA	0.343																																																	0													86	81	83					8																	103846971		2203	4300	6503	SO:0001583	missense	51582			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"ornithine decarboxylase 1-like"	607909	"ornithine decarboxylase antizyme inhibitor"	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.589C>T	8.37:g.103846971G>A	ENSP00000337180:p.His197Tyr		A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.H197Y	ENST00000337198.5	37	c.589	CCDS6295.1	8	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235141	0.58886	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.63096	-0.02;-0.02	5.97	5.97	0.96955	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.141893	0.64402	D	0.000004	D	0.85204	0.5643	H	0.95402	3.665	0.58432	D	0.999998	D	0.76494	0.999	D	0.78314	0.991	D	0.88806	0.3288	10	0.87932	D	0	-12.5372	15.9808	0.80108	0.0:0.0:0.8648:0.1352	.	197	O14977	AZIN1_HUMAN	Y	197	ENSP00000337180:H197Y;ENSP00000321507:H197Y	ENSP00000337180:H197Y	H	-	1	0	AZIN1	103916147	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.614000	0.67695	2.836000	0.97738	0.655000	0.94253	CAT	AZIN1	-	pfam_De-COase2_N,prints_Orn/DAP/Arg_de-COase		0.343	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZIN1	HGNC	protein_coding	OTTHUMT00000380133.1	G			103846971	-1	no_errors	ENST00000337198	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103846971	G	A	103846971	3	1	185	1	0	0	0	0	1	0	0	0	1243	1290	45	1	781	1	AZIN1	8	103846971	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3313807	103846971	42517051	731	35006										
OXR1	55074	genome.wustl.edu	37	chr8	107695447	107695447	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttgaatcaagggattctttGaatagcatagccctgaagtt	10	6	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:107695447G>C	ENST00000442977.2	+	4	426	c.327G>C	c.(325-327)ttG>ttC	p.L109F	OXR1_ENST00000312046.6_Missense_Mutation_p.L101F|OXR1_ENST00000517566.2_Missense_Mutation_p.L108F|OXR1_ENST00000531443.1_Missense_Mutation_p.L108F|OXR1_ENST00000445937.1_Missense_Mutation_p.L108F|OXR1_ENST00000497705.1_Missense_Mutation_p.L41F|OXR1_ENST00000452423.2_5'UTR	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	109					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GGGATTCTTTGAATAGCATAG	0.279																																																	0													73	73	73					8																	107695447		2203	4296	6499	SO:0001583	missense	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.327G>C	8.37:g.107695447G>C	ENSP00000405424:p.Leu109Phe		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.L109F	ENST00000442977.2	37	c.327	CCDS56548.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.04|17.04	3.286933|3.286933	0.59867|0.59867	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000517686;ENST00000497705;ENST00000312046|ENST00000517455	T;T;T;T;T;T;T|.	0.62364|.	0.03;0.03;0.03;0.03;0.03;0.03;0.03|.	5.4|5.4	4.53|4.53	0.55603|0.55603	Peptidoglycan-binding Lysin subgroup (1);Peptidoglycan-binding lysin domain (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|.	0.66548|.	0.2800|.	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.999;0.999|.	T|.	0.66799|.	-0.5832|.	10|.	0.87932|.	D|.	0|.	-15.517|-15.517	8.9986|8.9986	0.36068|0.36068	0.2367:0.0:0.7633:0.0|0.2367:0.0:0.7633:0.0	.|.	101;109;41;108|.	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.|.	F|S	108;108;108;109;39;41;101|25	ENSP00000402918:L108F;ENSP00000431966:L108F;ENSP00000429205:L108F;ENSP00000405424:L109F;ENSP00000429438:L39F;ENSP00000431014:L41F;ENSP00000311026:L101F|.	ENSP00000311026:L101F|.	L|X	+|+	3|2	2|2	OXR1|OXR1	107764623|107764623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	3.056000|3.056000	0.49923|0.49923	1.424000|1.424000	0.47217|0.47217	-0.252000|-0.252000	0.11476|0.11476	TTG|TGA	OXR1	-	pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr		0.279	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		G	NM_181354		107695447	1	no_errors	ENST00000442977	ensembl	human	known	70_37	missense	SNP	1.000	C	C	107695447	G	C	107695447	3	2	185	1	0	0	0	0	1	0	0	0	11358	1281	45	1	541	1	OXR1	8	107695447	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3848476	107695447	38668575	732	35007										
OXR1	55074	genome.wustl.edu	37	chr8	107695462	107695462	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctttgaatagcatagccctGaagtttgatacaacacctaa	6	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:107695462G>A	ENST00000442977.2	+	4	441	c.342G>A	c.(340-342)ctG>ctA	p.L114L	OXR1_ENST00000312046.6_Silent_p.L106L|OXR1_ENST00000517566.2_Silent_p.L113L|OXR1_ENST00000531443.1_Silent_p.L113L|OXR1_ENST00000445937.1_Silent_p.L113L|OXR1_ENST00000497705.1_Silent_p.L46L|OXR1_ENST00000452423.2_5'UTR	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	114					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCATAGCCCTGAAGTTTGATA	0.289																																																	0													84	83	83					8																	107695462		2203	4296	6499	SO:0001819	synonymous_variant	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.342G>A	8.37:g.107695462G>A			A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.L114	ENST00000442977.2	37	c.342	CCDS56548.1	8																																																																																			OXR1	-	pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr		0.289	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		G	NM_181354		107695462	1	no_errors	ENST00000442977	ensembl	human	known	70_37	silent	SNP	1.000	A	A	107695462	G	A	107695462	2	1	185	1	0	0	0	0	0	0	0	1	11358	1277	45	1		1	OXR1	8	107695462	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	15	107695462	38668560	733	35008										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110408272	110408272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagaggtcaccatgattttCccttcacaaggaagcattcg	8	12	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:110408272C>A	ENST00000378402.5	+	11	932	c.828C>A	c.(826-828)ttC>ttA	p.F276L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	276	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCATGATTTTCCCTTCACAAG	0.383										HNSCC(38;0.096)																																							0													65	57	59					8																	110408272		1991	4178	6169	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.828C>A	8.37:g.110408272C>A	ENSP00000367655:p.Phe276Leu		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.F276L	ENST00000378402.5	37	c.828	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	7.137	0.581144	0.13686	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	5.8	-7.8	0.01214	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.285780	0.29342	N	0.012426	T	0.59032	0.2164	L	0.46157	1.445	0.24048	N	0.996054	B	0.13145	0.007	B	0.23716	0.048	T	0.43245	-0.9403	10	0.37606	T	0.19	.	2.8825	0.05652	0.1542:0.4438:0.1325:0.2695	.	276	Q86WI1	PKHL1_HUMAN	L	276	ENSP00000367655:F276L	ENSP00000367655:F276L	F	+	3	2	PKHD1L1	110477448	0.073000	0.21202	0.512000	0.27736	0.073000	0.16967	-1.139000	0.03213	-1.229000	0.02564	-1.175000	0.01729	TTC	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	C	NM_177531		110408272	1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	0.326	A	A	110408272	C	A	110408272	3	1	185	1	0	0	0	0	1	0	0	0	11996	854	30	3	870	3	PKHD1L1	8	110408272	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2712810	110408272	35955750	734	35009										
PKHD1L1	93035	genome.wustl.edu	37	chr8	110456022	110456022	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagattgctatttgaggtttCaagttgtttttcaccatcta	7	6	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:110456022C>G	ENST00000378402.5	+	37	4786	c.4682C>G	c.(4681-4683)tCa>tGa	p.S1561*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1561					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGAGGTTTCAAGTTGTTTT	0.413										HNSCC(38;0.096)																																							0													102	97	99					8																	110456022		1836	4075	5911	SO:0001587	stop_gained	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4682C>G	8.37:g.110456022C>G	ENSP00000367655:p.Ser1561*		Q567P2|Q9UF27	Nonsense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.S1561*	ENST00000378402.5	37	c.4682	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	45	11.717468	0.99594	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.87	5.87	0.94306	.	0.159773	0.42821	D	0.000651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	.	.	.	X	1561	.	ENSP00000367655:S1561X	S	+	2	0	PKHD1L1	110525198	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.800000	0.62524	2.941000	0.99782	0.655000	0.94253	TCA	PKHD1L1	-	NULL		0.413	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	C	NM_177531		110456022	1	no_errors	ENST00000378402	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	110456022	C	G	110456022	4	3	185	1	0	0	0	0	0	1	0	0	11996	838	29	1	4828	1	PKHD1L1	8	110456022	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	47750	110456022	35908000	735	35010										
ATAD2	29028	genome.wustl.edu	37	chr8	124381325	124381325	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcgtttacagtaaggacttCttggtcctgcggaagataat	10	7	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:124381325C>T	ENST00000287394.5	-	8	1129	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	341					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAAGGACTTCTTGGTCCTGC	0.393																																																	0													107	95	99					8																	124381325		2203	4300	6503	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1022G>A	8.37:g.124381325C>T	ENSP00000287394:p.Arg341Lys		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R341K	ENST00000287394.5	37	c.1022	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662524	0.67700	.	.	ENSG00000156802	ENST00000287394	D	0.92149	-2.98	5.34	5.34	0.76211	.	0.309653	0.19226	U	0.119543	D	0.85566	0.5726	N	0.24115	0.695	0.80722	D	1	B;P	0.52316	0.019;0.952	B;B	0.38616	0.011;0.277	D	0.84381	0.0549	10	0.19147	T	0.46	-19.8817	18.183	0.89785	0.0:1.0:0.0:0.0	.	171;341	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	K	341	ENSP00000287394:R341K	ENSP00000287394:R341K	R	-	2	0	ATAD2	124450506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.334000	0.52097	2.645000	0.89757	0.650000	0.86243	AGA	ATAD2	-	NULL		0.393	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	C	NM_014109		124381325	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	missense	SNP	1.000	T	T	124381325	C	T	124381325	3	4	185	1	0	0	0	0	1	0	0	0	1072	913	32	1	3234	1	ATAD2	8	124381325	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	13925303	124381325	21982697	736	35011										
SQLE	6713	genome.wustl.edu	37	chr8	126017781	126017781	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgcagatacagtggaaggtCttgatgcccaggttgtaaat	12	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:126017781C>A	ENST00000265896.5	+	3	1457	c.559C>A	c.(559-561)Ctt>Att	p.L187I	SQLE_ENST00000523430.1_Missense_Mutation_p.L92I	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	187					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGTGGAAGGTCTTGATGCCCA	0.403																																																	0													174	179	177					8																	126017781		1918	4129	6047	SO:0001583	missense	6713			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.559C>A	8.37:g.126017781C>A	ENSP00000265896:p.Leu187Ile		Q9UEK6	Missense_Mutation	SNP	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	p.L187I	ENST00000265896.5	37	c.559	CCDS47918.1	8	.	.	.	.	.	.	.	.	.	.	C	3.688	-0.064189	0.07273	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000521232	T	0.52295	0.67	5.63	0.0619	0.14342	.	0.243999	0.41938	N	0.000791	T	0.13543	0.0328	N	0.01649	-0.78	0.43613	D	0.995982	B	0.13594	0.008	B	0.16289	0.015	T	0.34875	-0.9811	10	0.02654	T	1	-6.8693	5.8516	0.18696	0.4721:0.299:0.0:0.2289	.	187	Q14534	ERG1_HUMAN	I	92;187;129	ENSP00000428239:L129I	ENSP00000265896:L187I	L	+	1	0	SQLE	126086962	0.989000	0.36119	0.958000	0.39756	0.964000	0.63967	0.446000	0.21694	-0.311000	0.08754	-0.291000	0.09656	CTT	SQLE	-	pfam_mOase_FAD-bd		0.403	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	HGNC	protein_coding	OTTHUMT00000381362.1	C	NM_003129		126017781	1	no_errors	ENST00000265896	ensembl	human	known	70_37	missense	SNP	0.998	A	A	126017781	C	A	126017781	3	1	185	1	0	0	0	0	1	0	0	0	15158	913	32	3	569	3	SQLE	8	126017781	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1636456	126017781	20346241	737	35012										
KIAA0196	9897	genome.wustl.edu	37	chr8	126075818	126075818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgaaaagacatcagcaagctCagtcatccgctccgaaccct	7	14	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:126075818C>G	ENST00000318410.7	-	11	1703	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E304Q	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	452					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCAGCAAGCTCAGTCATCCGC	0.408																																																	0													150	138	142					8																	126075818		2203	4300	6503	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1354G>C	8.37:g.126075818C>G	ENSP00000318016:p.Glu452Gln		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.E452Q	ENST00000318410.7	37	c.1354	CCDS6355.1	8	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751437	0.89753	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.86497	-2.13;-2.13	5.83	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.91875	0.7428	M	0.63428	1.95	0.80722	D	1	D;P	0.76494	0.999;0.906	D;P	0.70935	0.971;0.596	D	0.91356	0.5108	10	0.40728	T	0.16	-22.6034	16.1867	0.81959	0.1343:0.8657:0.0:0.0	.	304;452	E7EQI7;Q12768	.;STRUM_HUMAN	Q	452;304	ENSP00000318016:E452Q;ENSP00000429676:E304Q	ENSP00000318016:E452Q	E	-	1	0	KIAA0196	126145000	1.000000	0.71417	0.855000	0.33649	0.988000	0.76386	7.814000	0.86154	1.438000	0.47492	0.561000	0.74099	GAG	KIAA0196	-	pfam_WASH_strumpellin		0.408	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	C	NM_014846		126075818	-1	no_errors	ENST00000318410	ensembl	human	known	70_37	missense	SNP	1.000	G	G	126075818	C	G	126075818	3	3	185	1	0	0	0	0	1	0	0	0	8181	835	29	1	2201	1	KIAA0196	8	126075818	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	58037	126075818	20288204	738	35013										
PLEC	5339	genome.wustl.edu	37	chr8	145009251	145009251	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcgacgagacgtaggtgatGatggacttctcgtcgggctg	16	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:145009251G>A	ENST00000322810.4	-	8	1333	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	PLEC_ENST00000527096.1_Silent_p.I278I|PLEC_ENST00000356346.3_Silent_p.I237I|PLEC_ENST00000436759.2_Silent_p.I278I|PLEC_ENST00000398774.2_Silent_p.I219I|PLEC_ENST00000345136.3_Silent_p.I251I|PLEC_ENST00000357649.2_Silent_p.I255I|PLEC_ENST00000354958.2_Silent_p.I229I|PLEC_ENST00000354589.3_Silent_p.I251I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	388	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTAGGTGATGATGGACTTCT	0.682																																																	0													85	97	93					8																	145009251		2176	4259	6435	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1164C>T	8.37:g.145009251G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.I388	ENST00000322810.4	37	c.1164	CCDS43772.1	8																																																																																			PLEC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145009251	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	1.000	A	A	145009251	G	A	145009251	2	1	185	1	0	0	0	0	0	0	0	1	12076	1280	45	1		1	PLEC	8	145009251	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	18933433	145009251	1354771	739	35014										
SHARPIN	81858	genome.wustl.edu	37	chr8	145158082	145158082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtagctcgtgctgggtggggCctcggatggtgtaggaaact	18	7	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:145158082C>T	ENST00000398712.2	-	2	684	c.248G>A	c.(247-249)gGc>gAc	p.G83D	MAF1_ENST00000534585.1_5'Flank|MAF1_ENST00000532522.1_5'Flank|SHARPIN_ENST00000533948.1_5'UTR|MAF1_ENST00000322428.5_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	83	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGTGGGGCCTCGGATGGT	0.627																																																	0													60	69	66					8																	145158082		2043	4191	6234	SO:0001583	missense	81858			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.248G>A	8.37:g.145158082C>T	ENSP00000381698:p.Gly83Asp		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.G83D	ENST00000398712.2	37	c.248	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675220	0.47781	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.34667	1.81;1.35	4.31	4.31	0.51392	.	0.343543	0.28778	N	0.014173	T	0.51736	0.1692	M	0.72118	2.19	0.09310	N	1	D	0.63880	0.993	P	0.57371	0.819	T	0.47548	-0.9109	10	0.72032	D	0.01	.	12.1584	0.54091	0.0:1.0:0.0:0.0	.	83	Q9H0F6	SHRPN_HUMAN	D	83	ENSP00000381698:G83D;ENSP00000352551:G83D	ENSP00000352551:G83D	G	-	2	0	SHARPIN	145230070	0.028000	0.19301	0.108000	0.21378	0.063000	0.16089	1.652000	0.37313	2.252000	0.74401	0.561000	0.74099	GGC	SHARPIN	-	NULL		0.627	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	C	NM_030974		145158082	-1	no_errors	ENST00000398712	ensembl	human	known	70_37	missense	SNP	0.131	T	T	145158082	C	T	145158082	3	4	185	1	0	0	0	0	1	0	0	0	14297	739	26	4	943	4	SHARPIN	8	145158082	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	148831	145158082	1205940	740	35015										
RECQL4	113655	genome.wustl.edu	37	chr8	145737344	145737344	+	IGR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtcctccatgcctcccggctCctgcccttcctcttcctcaa	5	21	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr8:145737344C>G	ENST00000301327.4	+	0	1548				CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.E1115Q|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTCCCGGCTCCTGCCCTTCC	0.677																																																	0													23	26	25					8																	145737344		2122	4234	6356	SO:0001628	intergenic_variant	9401				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737344C>G				RNA	SNP	-	NULL	ENST00000301327.4	37	NULL	CCDS6431.1	8																																																																																			RECQL4	-	-		0.677	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	HGNC	protein_coding	OTTHUMT00000382478.2	C	NM_138431		145737344	-1	no_errors	ENST00000301323	ensembl	human	known	70_37	rna	SNP	0.001	G	G	145737344	C	G	145737344	1	3	185	0	1	0	0	0	0	0	0	0	13232	864	30	1		1	RECQL4	8	145737344	IGR	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	579262	145737344	626678	741	35016										
DOCK8	81704	genome.wustl.edu	37	chr9	414809	414809	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaagtacaaaggaaagctgtCagtgcaattcacagcctgct	9	9	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:414809C>T	ENST00000453981.1	+	29	3670	c.3558C>T	c.(3556-3558)gtC>gtT	p.V1186V	DOCK8_ENST00000382329.1_Silent_p.V653V|DOCK8_ENST00000432829.2_Silent_p.V1118V|DOCK8_ENST00000469391.1_Silent_p.V1086V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1186					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAGCTGTCAGTGCAATTC	0.453																																																	0													267	269	268					9																	414809		2203	4300	6503	SO:0001819	synonymous_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3558C>T	9.37:g.414809C>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.V1186	ENST00000453981.1	37	c.3558	CCDS6440.2	9																																																																																			DOCK8	-	NULL		0.453	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	C	XM_036307		414809	1	no_errors	ENST00000453981	ensembl	human	known	70_37	silent	SNP	1.000	T	T	414809	C	T	414809	2	4	185	1	0	0	0	0	0	0	0	1	4703	813	29	1		1	DOCK8	9	414809	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		414809	140798622	742	35017										
GLIS3	169792	genome.wustl.edu	37	chr9	4125815	4125815	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgatctggttgcatgctgtaGagacctggcttgctggaggt	15	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:4125815G>C	ENST00000324333.10	-	2	243	c.50C>G	c.(49-51)tCt>tGt	p.S17C	GLIS3_ENST00000381971.3_Missense_Mutation_p.S172C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	17					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCATGCTGTAGAGACCTGGCT	0.478																																																	0													209	178	188					9																	4125815		2203	4300	6503	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.50C>G	9.37:g.4125815G>C	ENSP00000325494:p.Ser17Cys		B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S172C	ENST00000324333.10	37	c.515	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319997	0.81469	.	.	ENSG00000107249	ENST00000324333;ENST00000381971;ENST00000477901;ENST00000478844;ENST00000481827;ENST00000478315;ENST00000462164	T;T	0.15017	2.46;2.66	5.65	5.65	0.86999	.	0.128810	0.34507	N	0.003909	T	0.29355	0.0731	N	0.19112	0.55	0.39616	D	0.969955	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.65874	0.939;0.939;0.87	T	0.08411	-1.0723	10	0.87932	D	0	.	20.073	0.97731	0.0:0.0:1.0:0.0	.	47;172;17	Q1PHJ1;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	C	17;172;172;17;172;17;17	ENSP00000325494:S17C;ENSP00000371398:S172C	ENSP00000325494:S17C	S	-	2	0	GLIS3	4115815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.405000	0.80007	2.811000	0.96726	0.655000	0.94253	TCT	GLIS3	-	NULL		0.478	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	G	NM_152629		4125815	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4125815	G	C	4125815	3	2	185	1	0	0	0	0	1	0	0	0	6466	942	33	1	2313	1	GLIS3	9	4125815	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3711006	4125815	137087616	743	35018										
GLIS3	169792	genome.wustl.edu	37	chr9	4125836	4125836	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agacctggcttgctggaggtGaaatgagtcccagtcgctga	14	9	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:4125836G>T	ENST00000324333.10	-	2	222	c.29C>A	c.(28-30)tCa>tAa	p.S10*	GLIS3_ENST00000381971.3_Nonsense_Mutation_p.S165*	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	10					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGCTGGAGGTGAAATGAGTCC	0.512																																																	0													185	157	166					9																	4125836		2203	4300	6503	SO:0001587	stop_gained	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.29C>A	9.37:g.4125836G>T	ENSP00000325494:p.Ser10*		B1AL19|Q1PHK5	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S165*	ENST00000324333.10	37	c.494	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.606145	0.97701	.	.	ENSG00000107249	ENST00000324333;ENST00000381971;ENST00000477901;ENST00000478844;ENST00000481827;ENST00000478315;ENST00000462164	.	.	.	5.65	5.65	0.86999	.	0.000000	0.43416	D	0.000569	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.263	0.73640	0.0694:0.0:0.9306:0.0	.	.	.	.	X	10;165;165;10;165;10;10	.	ENSP00000325494:S10X	S	-	2	0	GLIS3	4115836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.242000	0.65389	2.811000	0.96726	0.655000	0.94253	TCA	GLIS3	-	NULL		0.512	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	G	NM_152629		4125836	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	4125836	G	T	4125836	4	4	185	1	0	0	0	0	0	1	0	0	6466	1294	45	3	2334	3	GLIS3	9	4125836	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	21	4125836	137087595	744	35019										
KDM4C	23081	genome.wustl.edu	37	chr9	6893199	6893199	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctacaaattttgctactgtCagatggattgactatggaaa	8	6	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:6893199C>G	ENST00000381309.3	+	8	1453	c.888C>G	c.(886-888)gtC>gtG	p.V296V	KDM4C_ENST00000535193.1_Silent_p.V318V|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000442236.2_Silent_p.V115V|KDM4C_ENST00000543771.1_Silent_p.V296V|KDM4C_ENST00000536108.1_Silent_p.V115V|KDM4C_ENST00000381306.3_Silent_p.V296V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	296	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TTGCTACTGTCAGATGGATTG	0.373																																																	0													106	106	106					9																	6893199		2203	4300	6503	SO:0001819	synonymous_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.888C>G	9.37:g.6893199C>G			B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.V296	ENST00000381309.3	37	c.888	CCDS6471.1	9																																																																																			KDM4C	-	smart_JmjC_dom,pfscan_JmjC_dom		0.373	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	C	NM_015061		6893199	1	no_errors	ENST00000381309	ensembl	human	known	70_37	silent	SNP	1.000	G	G	6893199	C	G	6893199	2	3	185	1	0	0	0	0	0	0	0	1	8150	813	29	1		1	KDM4C	9	6893199	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2767363	6893199	134320232	745	35020										
MPDZ	8777	genome.wustl.edu	37	chr9	13224396	13224396	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggccatatttttgataagctGatcaaattcatcacaagcag	7	8	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:13224396G>A	ENST00000319217.7	-	4	617	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	MPDZ_ENST00000546205.1_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.Q124*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.Q124*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	124					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGATAAGCTGATCAAATTCA	0.343																																																	0													120	115	116					9																	13224396		1834	4083	5917	SO:0001587	stop_gained	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.370C>T	9.37:g.13224396G>A	ENSP00000320006:p.Gln124*		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Nonsense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.Q124*	ENST00000319217.7	37	c.370		9	.	.	.	.	.	.	.	.	.	.	G	37	6.080731	0.97267	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.72	5.72	0.89469	.	0.000000	0.42682	D	0.000673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	14.0925	0.65000	0.0717:0.0:0.9283:0.0	.	.	.	.	X	124	.	ENSP00000320006:Q124X	Q	-	1	0	MPDZ	13214396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.246000	0.58740	2.689000	0.91719	0.655000	0.94253	CAG	MPDZ	-	superfamily_PDZ		0.343	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	G	NM_003829		13224396	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	13224396	G	A	13224396	4	1	185	1	0	0	0	0	0	1	0	0	9745	1299	45	1	5927	1	MPDZ	9	13224396	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6331197	13224396	127989035	746	35021										
SNAPC3	6619	genome.wustl.edu	37	chr9	15423037	15423037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttggggagctgtggcggggcCgtctgcgcggggccggggac	23	10	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:15423037C>A	ENST00000380821.3	+	1	336	c.160C>A	c.(160-162)Cgt>Agt	p.R54S		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	54					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GTGGCGGGGCCGTCTGCGCGG	0.687																																																	0													10	13	12					9																	15423037		2195	4271	6466	SO:0001583	missense	6619			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"small nuclear RNA activating complex, polypeptide 3, 50kD"			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.160C>A	9.37:g.15423037C>A	ENSP00000370200:p.Arg54Ser		D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	pfam_snRNA-activating_su3	p.R54S	ENST00000380821.3	37	c.160	CCDS6478.1	9	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026305	0.35701	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.49432	0.78	5.21	3.21	0.36854	.	0.212677	0.40144	N	0.001180	T	0.60919	0.2306	M	0.65975	2.015	0.80722	D	1	D;P	0.67145	0.996;0.872	D;B	0.79108	0.992;0.312	T	0.60209	-0.7308	10	0.45353	T	0.12	-20.833	7.9279	0.29885	0.1732:0.4919:0.335:0.0	.	54;54	B4DDR9;Q92966	.;SNPC3_HUMAN	S	54	ENSP00000370200:R54S	ENSP00000370185:R54S	R	+	1	0	SNAPC3	15413037	0.997000	0.39634	0.993000	0.49108	0.026000	0.11368	0.966000	0.29331	1.413000	0.46997	-0.311000	0.09066	CGT	SNAPC3	-	NULL		0.687	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC3	HGNC	protein_coding	OTTHUMT00000051763.2	C	NM_001039697		15423037	1	no_errors	ENST00000380821	ensembl	human	known	70_37	missense	SNP	0.989	A	A	15423037	C	A	15423037	3	1	185	1	0	0	0	0	1	0	0	0	14866	652	23	2	162	2	SNAPC3	9	15423037	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2198641	15423037	125790394	747	35022										
HAUS6	54801	genome.wustl.edu	37	chr9	19060161	19060161	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagagagtcaattagttcctCtaattttatttcttttcctt	4	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:19060161C>G	ENST00000380502.3	-	15	2157	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E428Q	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	564					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTAGTTCCTCTAATTTTATT	0.368																																																	0													45	42	43					9																	19060161		2203	4297	6500	SO:0001583	missense	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1690G>C	9.37:g.19060161C>G	ENSP00000369871:p.Glu564Gln		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.E564Q	ENST00000380502.3	37	c.1690	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734678	0.48939	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.50277	1.75;1.78;0.75	5.78	3.82	0.43975	.	0.353223	0.35615	N	0.003089	T	0.62405	0.2425	M	0.70595	2.14	0.28229	N	0.926173	D;D;P;P	0.71674	0.998;0.998;0.607;0.599	P;P;B;B	0.59703	0.862;0.862;0.223;0.28	T	0.60141	-0.7321	10	0.37606	T	0.19	-8.4463	15.2398	0.73461	0.0:0.7343:0.2657:0.0	.	529;564;428;564	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	Q	564;428;80	ENSP00000369871:E564Q;ENSP00000369865:E428Q;ENSP00000409615:E80Q	ENSP00000369865:E428Q	E	-	1	0	HAUS6	19050161	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.355000	0.52262	1.437000	0.47472	0.591000	0.81541	GAG	HAUS6	-	NULL		0.368	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	C	NM_017645		19060161	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19060161	C	G	19060161	3	3	185	1	0	0	0	0	1	0	0	0	6990	922	32	1	1189	1	HAUS6	9	19060161	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3637124	19060161	122153270	748	35023										
CDKN2B	1030	genome.wustl.edu	37	chr9	22008871	22008871	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caggagctgtcgcaccttctCcactagtccccgcgccgcgg	11	18	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:22008871C>G	ENST00000276925.6	-	1	491	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B_ENST00000539462.1_Missense_Mutation_p.E28Q|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B_ENST00000380142.4_Missense_Mutation_p.E28Q|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	28					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CGCACCTTCTCCACTAGTCCC	0.716											OREG0019127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Whole gene deletion(2)	lung(2)											12	13	13					9																	22008871		2196	4284	6480	SO:0001583	missense	1030			AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.82G>C	9.37:g.22008871C>G	ENSP00000276925:p.Glu28Gln	752	O15125|Q6FI09	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.E28Q	ENST00000276925.6	37	c.82	CCDS6512.1	9	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522725	0.64747	.	.	ENSG00000147883	ENST00000276925;ENST00000380142;ENST00000539462	T;T;T	0.80738	-1.41;1.42;1.42	5.86	4.95	0.65309	Ankyrin repeat-containing domain (3);	0.333543	0.30781	N	0.008888	T	0.81143	0.4761	L	0.49513	1.565	0.32358	N	0.557508	B;D	0.61080	0.13;0.989	B;P	0.52957	0.266;0.714	D	0.83857	0.0266	10	0.48119	T	0.1	-21.4222	11.2729	0.49150	0.0:0.9141:0.0:0.0859	.	28;28	P42772;O15125	CDN2B_HUMAN;.	Q	28	ENSP00000276925:E28Q;ENSP00000369487:E28Q;ENSP00000445136:E28Q	ENSP00000276925:E28Q	E	-	1	0	CDKN2B	21998871	0.592000	0.26832	1.000000	0.80357	0.971000	0.66376	0.732000	0.26072	2.775000	0.95449	0.650000	0.86243	GAG	CDKN2B	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.716	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2B	HGNC	protein_coding	OTTHUMT00000051932.2	C	NM_004936		22008871	-1	no_errors	ENST00000276925	ensembl	human	known	70_37	missense	SNP	1.000	G	G	22008871	C	G	22008871	3	3	185	1	0	0	0	0	1	0	0	0	3169	864	30	1	423	1	CDKN2B	9	22008871	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2948710	22008871	119204560	749	35024										
TOPORS	10210	genome.wustl.edu	37	chr9	32542367	32542367	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acagagtcctcctcctgtaaGatgattcgtacccatccctg	7	14	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:32542367G>A	ENST00000360538.2	-	3	2272	c.2156C>T	c.(2155-2157)tCt>tTt	p.S719F	TOPORS_ENST00000379858.1_Missense_Mutation_p.S654F	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	719	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CCTCCTGTAAGATGATTCGTA	0.363																																																	0													194	204	200					9																	32542367		2203	4300	6503	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2156C>T	9.37:g.32542367G>A	ENSP00000353735:p.Ser719Phe		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S719F	ENST00000360538.2	37	c.2156	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583038	0.46006	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17370	2.28;2.28	5.96	5.96	0.96718	.	0.000000	0.48767	D	0.000167	T	0.32102	0.0818	L	0.27053	0.805	0.38123	D	0.937931	D	0.89917	1.0	D	0.73708	0.981	T	0.07102	-1.0790	10	0.87932	D	0	-11.2236	19.1907	0.93664	0.0:0.0:1.0:0.0	.	719	Q9NS56	TOPRS_HUMAN	F	719;654	ENSP00000353735:S719F;ENSP00000369187:S654F	ENSP00000353735:S719F	S	-	2	0	TOPORS	32532367	0.977000	0.34250	1.000000	0.80357	0.987000	0.75469	2.988000	0.49386	2.831000	0.97527	0.650000	0.86243	TCT	TOPORS	-	NULL		0.363	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1	G	NM_005802		32542367	-1	no_errors	ENST00000360538	ensembl	human	known	70_37	missense	SNP	0.992	A	A	32542367	G	A	32542367	3	1	185	1	0	0	0	0	1	0	0	0	16401	942	33	1	985	1	TOPORS	9	32542367	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	10533496	32542367	108671064	750	35025										
UBAP2	55833	genome.wustl.edu	37	chr9	33953364	33953364	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgttgtgttgcgaatttgtGaagacaagggcttggccaaa	13	5	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:33953364G>A	ENST00000379238.1	-	12	1092	c.975C>T	c.(973-975)ttC>ttT	p.F325F	UBAP2_ENST00000539807.1_Silent_p.F80F|UBAP2_ENST00000449054.1_Silent_p.F325F|UBAP2_ENST00000360802.1_Silent_p.F325F|UBAP2_ENST00000418786.2_Silent_p.F272F|UBAP2_ENST00000379239.4_Silent_p.F58F|SNORD121A_ENST00000459386.1_RNA					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCGAATTTGTGAAGACAAGGG	0.512																																																	0													94	94	94					9																	33953364		2203	4300	6503	SO:0001819	synonymous_variant	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.975C>T	9.37:g.33953364G>A				Silent	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.F325	ENST00000379238.1	37	c.975	CCDS6547.1	9																																																																																			UBAP2	-	NULL		0.512	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	G	NM_018449		33953364	-1	no_errors	ENST00000360802	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33953364	G	A	33953364	2	1	185	1	0	0	0	0	0	0	0	1	16868	1281	45	1		1	UBAP2	9	33953364	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1410997	33953364	107260067	751	35026										
FRMPD1	22844	genome.wustl.edu	37	chr9	37745883	37745883	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaaggcaaaagtgacagctCtagcatctgcctttctgctg	10	10	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:37745883C>T	ENST00000539465.1	+	16	4447	c.3854C>T	c.(3853-3855)tCt>tTt	p.S1285F	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1285F|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1285						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTGACAGCTCTAGCATCTGC	0.493																																																	0													115	113	114					9																	37745883		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3854C>T	9.37:g.37745883C>T	ENSP00000444411:p.Ser1285Phe		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.S1285F	ENST00000539465.1	37	c.3854	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600166	0.46423	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.08282	3.11;3.11	5.25	4.24	0.50183	.	1.106120	0.06686	N	0.768740	T	0.06690	0.0171	N	0.08118	0	0.47214	D	0.999358	P	0.44090	0.826	P	0.45037	0.467	T	0.34254	-0.9836	10	0.66056	D	0.02	-0.1483	5.8613	0.18749	0.0:0.8333:0.0:0.1667	.	1285	Q5SYB0	FRPD1_HUMAN	F	1285	ENSP00000366995:S1285F;ENSP00000444411:S1285F	ENSP00000366995:S1285F	S	+	2	0	FRMPD1	37735883	0.004000	0.15560	0.603000	0.28903	0.937000	0.57800	1.240000	0.32731	2.455000	0.83008	0.561000	0.74099	TCT	FRMPD1	-	NULL		0.493	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	C	NM_014907		37745883	1	no_errors	ENST00000377765	ensembl	human	known	70_37	missense	SNP	0.581	T	T	37745883	C	T	37745883	3	4	185	1	0	0	0	0	1	0	0	0	6075	913	32	1	3912	1	FRMPD1	9	37745883	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3792519	37745883	103467548	752	35027										
FRMPD1	22844	genome.wustl.edu	37	chr9	37746008	37746008	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcatgaatgagatggtggctCccaggatagggatggaccag	16	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:37746008C>G	ENST00000539465.1	+	16	4572	c.3979C>G	c.(3979-3981)Ccc>Gcc	p.P1327A	FRMPD1_ENST00000377765.3_Missense_Mutation_p.P1327A|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1327						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GATGGTGGCTCCCAGGATAGG	0.552																																																	0													125	126	126					9																	37746008		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3979C>G	9.37:g.37746008C>G	ENSP00000444411:p.Pro1327Ala		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.P1327A	ENST00000539465.1	37	c.3979	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	C	8.650	0.897958	0.17686	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07444	3.19;3.19	5.38	4.47	0.54385	.	0.664558	0.15658	N	0.251026	T	0.05593	0.0147	N	0.11560	0.145	0.29808	N	0.831873	B	0.17667	0.023	B	0.17722	0.019	T	0.16158	-1.0412	10	0.40728	T	0.16	-14.8186	11.7794	0.52003	0.0:0.8145:0.1855:0.0	.	1327	Q5SYB0	FRPD1_HUMAN	A	1327	ENSP00000366995:P1327A;ENSP00000444411:P1327A	ENSP00000366995:P1327A	P	+	1	0	FRMPD1	37736008	0.008000	0.16893	0.016000	0.15963	0.690000	0.40134	0.821000	0.27338	1.238000	0.43771	0.561000	0.74099	CCC	FRMPD1	-	NULL		0.552	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	C	NM_014907		37746008	1	no_errors	ENST00000377765	ensembl	human	known	70_37	missense	SNP	0.045	G	G	37746008	C	G	37746008	3	3	185	1	0	0	0	0	1	0	0	0	6075	855	30	1	4037	1	FRMPD1	9	37746008	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	125	37746008	103467423	753	35028										
ZNF658	26149	genome.wustl.edu	37	chr9	40773898	40773898	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctcttttgtgtgaattctCagatgtttactgaggtttga	9	5	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:40773898C>G	ENST00000602553.1	-	5	1671	c.1377G>C	c.(1375-1377)ctG>ctC	p.L459L	ZNF658_ENST00000377626.3_Silent_p.L459L|ZNF658_ENST00000441795.1_Silent_p.L457L			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTGAATTCTCAGATGTTTAC	0.398																																																	0													16	17	16					9																	40773898		1887	4004	5891	SO:0001819	synonymous_variant	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1377G>C	9.37:g.40773898C>G			Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L459	ENST00000602553.1	37	c.1377	CCDS35023.1	9																																																																																			ZNF658	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	C	NM_033160		40773898	-1	no_errors	ENST00000377626	ensembl	human	known	70_37	silent	SNP	0.595	G	G	40773898	C	G	40773898	2	3	185	1	0	0	0	0	0	0	0	1	18099	813	29	1		1	ZNF658	9	40773898	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3027890	40773898	100439533	754	35029										
ANKRD20A4	728747	genome.wustl.edu	37	chr9	69423478	69423478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atacaaggctcaatgccgaaCtgttgaaggaaaaagaaagc	10	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:69423478C>A	ENST00000357336.3	+	15	2055	c.1774C>A	c.(1774-1776)Ctg>Atg	p.L592M		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	592										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						CAATGCCGAACTGTTGAAGGA	0.388																																																	0													1	1	1					9																	69423478		73	239	312	SO:0001583	missense	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1774C>A	9.37:g.69423478C>A	ENSP00000349891:p.Leu592Met			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L592M	ENST00000357336.3	37	c.1774	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	C	6.504	0.461252	0.12342	.	.	ENSG00000172014	ENST00000357336	T	0.41758	0.99	2.26	1.3	0.21679	.	.	.	.	.	T	0.48943	0.1528	M	0.73962	2.25	0.09310	N	0.999994	D	0.69078	0.997	P	0.52386	0.697	T	0.39165	-0.9627	9	0.72032	D	0.01	.	4.5727	0.12217	0.0:0.6537:0.0:0.3463	.	592	Q4UJ75	A20A4_HUMAN	M	592	ENSP00000349891:L592M	ENSP00000349891:L592M	L	+	1	2	ANKRD20A4	68713298	0.978000	0.34361	0.007000	0.13788	0.006000	0.05464	0.035000	0.13797	0.275000	0.22094	0.184000	0.17185	CTG	ANKRD20A4	-	NULL		0.388	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	C	NM_001098805		69423478	1	no_errors	ENST00000357336	ensembl	human	known	70_37	missense	SNP	0.656	A	A	69423478	C	A	69423478	3	1	185	1	0	0	0	0	1	0	0	0	650	564	20	4	1832	4	ANKRD20A4	9	69423478	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	28649580	69423478	71789953	755	35030										
PCSK5	5125	genome.wustl.edu	37	chr9	78638713	78638713	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatatcgaaggagcctggaaGagaggctacacgggaaagaa	14	6	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:78638713G>C	ENST00000545128.1	+	4	1009	c.471G>C	c.(469-471)aaG>aaC	p.K157N	PCSK5_ENST00000376767.3_Missense_Mutation_p.K157N|PCSK5_ENST00000376752.4_Missense_Mutation_p.K157N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	157					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAGCCTGGAAGAGAGGCTACA	0.458																																																	0													159	141	147					9																	78638713		2203	4300	6503	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.471G>C	9.37:g.78638713G>C	ENSP00000446280:p.Lys157Asn		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.K157N	ENST00000545128.1	37	c.471	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399193	0.42512	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.46819	0.86;0.86;0.86	5.74	4.84	0.62591	.	.	.	.	.	T	0.47673	0.1458	L	0.57536	1.79	0.46927	D	0.999256	B;B	0.28439	0.185;0.212	B;B	0.34652	0.187;0.058	T	0.51172	-0.8739	9	0.72032	D	0.01	.	10.923	0.47176	0.1428:0.0:0.8572:0.0	.	157;157	Q92824-2;B1AMG5	.;.	N	157	ENSP00000446280:K157N;ENSP00000365958:K157N;ENSP00000365943:K157N	ENSP00000365943:K157N	K	+	3	2	PCSK5	77828533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.275000	0.65575	1.561000	0.49584	0.561000	0.74099	AAG	PCSK5	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.458	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78638713	1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78638713	G	C	78638713	3	2	185	1	0	0	0	0	1	0	0	0	11627	933	33	1	485	1	PCSK5	9	78638713	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9215235	78638713	62574718	756	35031										
GNAQ	2776	genome.wustl.edu	37	chr9	80336364	80336364	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtagataattttgtcactgtCtgggttcaggtccacgaaca	10	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:80336364C>T	ENST00000286548.4	-	7	1177	c.955G>A	c.(955-957)Gac>Aac	p.D319N	GNAQ_ENST00000397476.3_Missense_Mutation_p.D117N	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	319					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TTGTCACTGTCTGGGTTCAGG	0.512			Mis		uveal melanoma																																			Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	0													144	127	133					9																	80336364		2203	4300	6503	SO:0001583	missense	2776				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.955G>A	9.37:g.80336364C>T	ENSP00000286548:p.Asp319Asn		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA	p.D319N	ENST00000286548.4	37	c.955	CCDS6658.1	9	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733228	0.69189	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.87650	-2.28;-2.28	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	N	0.25485	0.75	0.80722	D	1	B	0.11235	0.004	B	0.17433	0.018	T	0.75291	-0.3369	10	0.45353	T	0.12	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	319	P50148	GNAQ_HUMAN	N	319;117	ENSP00000286548:D319N;ENSP00000443197:D117N	ENSP00000286548:D319N	D	-	1	0	GNAQ	79526184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.857000	0.98124	0.650000	0.86243	GAC	GNAQ	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA		0.512	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAQ	HGNC	protein_coding	OTTHUMT00000052761.1	C	NM_002072		80336364	-1	no_errors	ENST00000286548	ensembl	human	known	70_37	missense	SNP	1.000	T	T	80336364	C	T	80336364	3	4	185	1	0	0	0	0	1	0	0	0	6528	913	32	1	128	1	GNAQ	9	80336364	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1697651	80336364	60877067	757	35032										
UBQLN1	29979	genome.wustl.edu	37	chr9	86294834	86294834	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgaacaaagggattttccatGatctggaccatcatttcagg	9	8	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:86294834G>C	ENST00000376395.4	-	4	1090	c.567C>G	c.(565-567)atC>atG	p.I189M	UBQLN1_ENST00000257468.7_Missense_Mutation_p.I189M	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	189					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GATTTTCCATGATCTGGACCA	0.428																																					Melanoma(186;1284 2073 12755 14558 18426)												0													182	175	177					9																	86294834		2203	4300	6503	SO:0001583	missense	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.567C>G	9.37:g.86294834G>C	ENSP00000365576:p.Ile189Met		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.I189M	ENST00000376395.4	37	c.567	CCDS6663.1	9	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596313	0.28445	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	D;D	0.87256	-2.23;-2.23	5.54	2.17	0.27698	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	N	0.16833	0.445	0.45194	D	0.998201	B;B	0.32203	0.039;0.36	B;B	0.25614	0.053;0.062	T	0.61715	-0.7006	10	0.02654	T	1	-36.0301	2.6268	0.04932	0.1891:0.115:0.462:0.234	.	189;189	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	M	189	ENSP00000365576:I189M;ENSP00000257468:I189M	ENSP00000257468:I189M	I	-	3	3	UBQLN1	85484654	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.356000	0.20181	0.677000	0.31305	0.650000	0.86243	ATC	UBQLN1	-	smart_STI1_HS-bd		0.428	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	G	NM_013438		86294834	-1	no_errors	ENST00000376395	ensembl	human	known	70_37	missense	SNP	1.000	C	C	86294834	G	C	86294834	3	2	185	1	0	0	0	0	1	0	0	0	16927	1280	45	1	1234	1	UBQLN1	9	86294834	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5958470	86294834	54918597	758	35033										
KIF27	55582	genome.wustl.edu	37	chr9	86498737	86498737	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttttaaattacctgaactctCagctttgcagcatccatctt	4	11	2	1	rs367975807		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:86498737C>G	ENST00000297814.2	-	10	2579	c.2436G>C	c.(2434-2436)ctG>ctC	p.L812L	KIF27_ENST00000413982.1_Silent_p.L812L|KIF27_ENST00000376347.1_Silent_p.L203L|KIF27_ENST00000334204.2_Silent_p.L812L	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	812					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CCTGAACTCTCAGCTTTGCAG	0.348																																																	0													79	74	76					9																	86498737		2203	4300	6503	SO:0001819	synonymous_variant	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2436G>C	9.37:g.86498737C>G			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L812	ENST00000297814.2	37	c.2436	CCDS6665.1	9																																																																																			KIF27	-	NULL		0.348	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	C	NM_017576		86498737	-1	no_errors	ENST00000297814	ensembl	human	known	70_37	silent	SNP	0.923	G	G	86498737	C	G	86498737	2	3	185	1	0	0	0	0	0	0	0	1	8316	813	29	1		1	KIF27	9	86498737	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	203903	86498737	54714694	759	35034										
KIF27	55582	genome.wustl.edu	37	chr9	86498868	86498868	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagttcgacttttgcctgttCtgcatcatgctctagctttg	8	11	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:86498868C>G	ENST00000297814.2	-	10	2448	c.2305G>C	c.(2305-2307)Gaa>Caa	p.E769Q	KIF27_ENST00000413982.1_Missense_Mutation_p.E769Q|KIF27_ENST00000376347.1_Missense_Mutation_p.E160Q|KIF27_ENST00000334204.2_Missense_Mutation_p.E769Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	769					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTGCCTGTTCTGCATCATGC	0.338																																																	0													160	146	151					9																	86498868		2202	4299	6501	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2305G>C	9.37:g.86498868C>G	ENSP00000297814:p.Glu769Gln		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E769Q	ENST00000297814.2	37	c.2305	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397758	0.25205	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.36	2.55	0.30701	.	0.000000	0.64402	D	0.000018	T	0.43942	0.1270	L	0.55834	1.745	0.28445	N	0.916612	P;B;P	0.37500	0.51;0.143;0.597	B;B;B	0.35413	0.202;0.173;0.172	T	0.35724	-0.9777	10	0.38643	T	0.18	.	10.1762	0.42939	0.0:0.7842:0.0:0.2158	.	769;769;769	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Q	769;769;769;160	ENSP00000297814:E769Q;ENSP00000401688:E769Q;ENSP00000333928:E769Q;ENSP00000365525:E160Q	ENSP00000297814:E769Q	E	-	1	0	KIF27	85688688	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	1.844000	0.39269	0.645000	0.30675	-0.224000	0.12420	GAA	KIF27	-	NULL		0.338	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	C	NM_017576		86498868	-1	no_errors	ENST00000297814	ensembl	human	known	70_37	missense	SNP	1.000	G	G	86498868	C	G	86498868	3	3	185	1	0	0	0	0	1	0	0	0	8316	922	32	1	1936	1	KIF27	9	86498868	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	131	86498868	54714563	760	35035										
WNK2	65268	genome.wustl.edu	37	chr9	96000536	96000536	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtatcaagccggccagctttGagaaagtgcacgatcctgaa	11	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:96000536G>C	ENST00000297954.4	+	5	1255	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	WNK2_ENST00000395475.2_Missense_Mutation_p.E405Q|WNK2_ENST00000349097.3_Missense_Mutation_p.E31Q|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.E419Q|WNK2_ENST00000427277.2_Missense_Mutation_p.E31Q	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	419	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCAGCTTTGAGAAAGTGCA	0.562																																																	0													95	86	89					9																	96000536		2203	4300	6503	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1255G>C	9.37:g.96000536G>C	ENSP00000297954:p.Glu419Gln		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E419Q	ENST00000297954.4	37	c.1255		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.50|15.50|15.50	2.852910|2.852910|2.852910	0.51270|0.51270|0.51270	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000432730|ENST00000411624	T;T;T;T;T;T|.|.	0.24538|.|.	1.85;1.85;1.85;1.85;1.85;1.85|.|.	4.65|4.65|4.65	3.74|3.74|3.74	0.42951|0.42951|0.42951	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.|.	0.248403|.|.	0.41938|.|.	D|.|.	0.000783|.|.	T|T|.	0.50360|0.50360|.	0.1611|0.1611|.	N|N|N	0.25144|0.25144|0.25144	0.715|0.715|0.715	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;D;D;D|.|.	0.71674|.|.	0.998;0.949;0.996;0.998;0.998|.|.	P;P;P;P;D|.|.	0.68483|.|.	0.899;0.578;0.852;0.899;0.958|.|.	T|T|.	0.41998|0.41998|.	-0.9477|-0.9477|.	10|5|.	0.54805|.|.	T|.|.	0.06|.|.	.|.|.	14.4731|14.4731|14.4731	0.67529|0.67529|0.67529	0.0:0.0:0.8521:0.1479|0.0:0.0:0.8521:0.1479|0.0:0.0:0.8521:0.1479	.|.|.	419;419;22;419;419|.|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;.;WNK2_HUMAN|.|.	Q|F|S	419;419;419;405;31;31|414|22	ENSP00000412465:E419Q;ENSP00000297954:E419Q;ENSP00000378860:E419Q;ENSP00000378858:E405Q;ENSP00000297876:E31Q;ENSP00000411181:E31Q|.|.	ENSP00000297954:E419Q|.|.	E|L|X	+|+|+	1|3|2	0|2|2	WNK2|WNK2|WNK2	95040357|95040357|95040357	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	3.546000|3.546000|3.546000	0.53656|0.53656|0.53656	1.017000|1.017000|1.017000	0.39495|0.39495|0.39495	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAG|TTG|TGA	WNK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.562	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	G	NM_006648		96000536	1	no_errors	ENST00000297954	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96000536	G	C	96000536	3	2	185	1	0	0	0	0	1	0	0	0	17409	1291	45	1	1273	1	WNK2	9	96000536	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9501668	96000536	45212895	761	35036										
PTPDC1	138639	genome.wustl.edu	37	chr9	96860086	96860086	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcagcagattttgacaatcGaggcatgattttctccaatg	10	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:96860086G>C	ENST00000375360.3	+	7	1416	c.1076G>C	c.(1075-1077)cGa>cCa	p.R359P	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R411P	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	359					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTTGACAATCGAGGCATGATT	0.502																																																	0													60	62	61					9																	96860086		2203	4300	6503	SO:0001583	missense	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1076G>C	9.37:g.96860086G>C	ENSP00000364509:p.Arg359Pro		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.R359P	ENST00000375360.3	37	c.1076	CCDS6707.1	9	.	.	.	.	.	.	.	.	.	.	.	8.049	0.765561	0.15914	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.11821	2.74;2.74	5.93	1.98	0.26296	.	0.453502	0.26023	N	0.026813	T	0.06005	0.0156	N	0.08118	0	0.26756	N	0.970093	B;B;B;B	0.21309	0.054;0.053;0.054;0.054	B;B;B;B	0.16722	0.007;0.016;0.007;0.007	T	0.34279	-0.9835	10	0.31617	T	0.26	-3.5196	6.8844	0.24191	0.6444:0.2741:0.0816:0.0	.	413;411;413;359	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	P	359;411	ENSP00000364509:R359P;ENSP00000288976:R411P	ENSP00000288976:R411P	R	+	2	0	PTPDC1	95899907	0.999000	0.42202	0.245000	0.24217	0.262000	0.26303	1.903000	0.39858	0.077000	0.16863	-0.345000	0.07892	CGA	PTPDC1	-	NULL		0.502	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	HGNC	protein_coding	OTTHUMT00000215007.1	G	NM_177995, NM_152422		96860086	1	no_errors	ENST00000375360	ensembl	human	known	70_37	missense	SNP	0.967	C	C	96860086	G	C	96860086	3	2	185	1	0	0	0	0	1	0	0	0	12801	1058	37	1	1340	1	PTPDC1	9	96860086	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	859550	96860086	44353345	762	35037										
KIAA1529	100499483	genome.wustl.edu	37	chr9	100137857	100137857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggcggccgtggaagcccgaGatgctgtgtacctggtgaga	17	9	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:100137857G>A	ENST00000357054.1	+	48	5730	c.4795G>A	c.(4795-4797)Gat>Aat	p.D1599N	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.D1654N|CCDC180_ENST00000529487.1_Missense_Mutation_p.D1654N|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1599						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGAAGCCCGAGATGCTGTGTA	0.607																																																	0													88	76	80					9																	100137857		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4795G>A	9.37:g.100137857G>A	ENSP00000349562:p.Asp1599Asn		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.D1654N	ENST00000357054.1	37	c.4960		9	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489470	0.64074	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.23348	1.99;1.91;1.91	5.48	4.59	0.56863	.	0.205351	0.43416	D	0.000563	T	0.48466	0.1501	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.986;1.0	D;D	0.97110	0.933;1.0	T	0.48258	-0.9051	10	0.51188	T	0.08	-13.9626	10.6776	0.45796	0.0886:0.0:0.9114:0.0	.	1793;1599	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	N	1599;1654;1654	ENSP00000349562:D1599N;ENSP00000364348:D1654N;ENSP00000434727:D1654N	ENSP00000349562:D1599N	D	+	1	0	C9orf174	99177678	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	2.436000	0.44819	1.458000	0.47871	0.655000	0.94253	GAT	C9orf174	-	NULL		0.607	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100137857	1	no_errors	ENST00000375202	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100137857	G	A	100137857	3	1	185	1	0	0	0	0	1	0	0	0	8260	942	33	1	4941	1	KIAA1529	9	100137857	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3277771	100137857	41075574	763	35038										
GABBR2	9568	genome.wustl.edu	37	chr9	101235587	101235587	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggctcgtaccagcccggaatGatccactgatatttactacc	8	13	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:101235587G>A	ENST00000259455.2	-	6	1299	c.840C>T	c.(838-840)atC>atT	p.I280I	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	280					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGCCCGGAATGATCCACTGAT	0.532																																																	0													150	127	135					9																	101235587		2203	4300	6503	SO:0001819	synonymous_variant	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.840C>T	9.37:g.101235587G>A			O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3	p.I280	ENST00000259455.2	37	c.840	CCDS6736.1	9																																																																																			GABBR2	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1		0.532	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	G			101235587	-1	no_errors	ENST00000259455	ensembl	human	known	70_37	silent	SNP	1.000	A	A	101235587	G	A	101235587	2	1	185	1	0	0	0	0	0	0	0	1	6174	1280	45	1		1	GABBR2	9	101235587	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1097730	101235587	39977844	764	35039										
C9orf125	84302	genome.wustl.edu	37	chr9	104238223	104238223	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagagcccgatgtgtttcacGaggttcggctccactacata	10	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:104238223G>A	ENST00000374851.1	-	4	2299	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	TMEM246_ENST00000374847.1_Silent_p.L384L|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Silent_p.L384L			Q9BRR3	TM246_HUMAN	transmembrane protein 246	384						integral component of membrane (GO:0016021)											TGTGTTTCACGAGGTTCGGCT	0.542																																																	0													100	95	97					9																	104238223		2203	4300	6503	SO:0001819	synonymous_variant	84302			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1152C>T	9.37:g.104238223G>A			Q49AQ4	Silent	SNP	NULL	p.L384	ENST00000374851.1	37	c.1152	CCDS6757.1	9																																																																																			TMEM246	-	NULL		0.542	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1	G	NM_032342		104238223	-1	no_errors	ENST00000374847	ensembl	human	known	70_37	silent	SNP	0.322	A	A	104238223	G	A	104238223	2	1	185	1	0	0	0	0	0	0	0	1	2459	1045	37	1		1	C9orf125	9	104238223	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3002636	104238223	36975208	765	35040										
CYLC2	1539	genome.wustl.edu	37	chr9	105766986	105766986	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccatctttcagataattgatGaagaacaattaagaggagat	8	5	2	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:105766986G>A	ENST00000374798.3	+	4	260	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	CYLC2_ENST00000487798.1_Missense_Mutation_p.E64K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	64	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATAATTGATGAAGAACAATT	0.323																																																	0													69	66	67					9																	105766986		2203	4300	6503	SO:0001583	missense	1539			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.190G>A	9.37:g.105766986G>A	ENSP00000420256:p.Glu64Lys		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.E64K	ENST00000374798.3	37	c.190	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930381	0.52866	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15139	2.45;2.45	4.38	3.48	0.39840	.	0.331672	0.21983	N	0.066273	T	0.09247	0.0228	N	0.17674	0.51	0.20703	N	0.999868	B	0.32968	0.392	B	0.31547	0.132	T	0.22103	-1.0226	10	0.24483	T	0.36	-30.0188	7.5636	0.27866	0.1142:0.0:0.8858:0.0	.	64	Q14093	CYLC2_HUMAN	K	64	ENSP00000420256:E64K;ENSP00000417674:E64K	ENSP00000420256:E64K	E	+	1	0	CYLC2	104806807	0.001000	0.12720	0.596000	0.28811	0.364000	0.29643	0.502000	0.22594	2.434000	0.82447	0.591000	0.81541	GAA	CYLC2	-	NULL		0.323	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	G	NM_001340		105766986	1	no_errors	ENST00000374798	ensembl	human	putative	70_37	missense	SNP	0.447	A	A	105766986	G	A	105766986	3	1	185	1	0	0	0	0	1	0	0	0	4147	1291	45	1	204	1	CYLC2	9	105766986	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1528763	105766986	35446445	766	35041										
ABCA1	19	genome.wustl.edu	37	chr9	107578433	107578433	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acttaacttacttcttccagGgtcgtctctgagatgccata	7	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:107578433G>T	ENST00000374736.3	-	25	4123	c.3729C>A	c.(3727-3729)acC>acA	p.T1243T		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1243					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTTCTTCCAGGGTCGTCTCTG	0.483																																																	0													166	178	174					9																	107578433		2203	4300	6503	SO:0001819	synonymous_variant	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3729C>A	9.37:g.107578433G>T			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1243	ENST00000374736.3	37	c.3729	CCDS6762.1	9																																																																																			ABCA1	-	NULL		0.483	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107578433	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	silent	SNP	0.954	T	T	107578433	G	T	107578433	2	4	185	1	0	0	0	0	0	0	0	1	28	1219	43	4		4	ABCA1	9	107578433	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1811447	107578433	33634998	767	35042										
SVEP1	79987	genome.wustl.edu	37	chr9	113312230	113312230	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagccatgtcattcagctctCgaatgttcccttgccatatg	7	12	3	0	rs201060222		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:113312230C>G	ENST00000401783.2	-	2	1022	c.686G>C	c.(685-687)cGa>cCa	p.R229P	SVEP1_ENST00000374461.1_Missense_Mutation_p.R206P|SVEP1_ENST00000302728.8_Missense_Mutation_p.R229P|SVEP1_ENST00000374469.1_Missense_Mutation_p.R206P|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	229	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTCAGCTCTCGAATGTTCCC	0.493																																																	0								C	PRO/ARG	0,3874		0,0,1937	112	106	108		686	5.5	1	9		108	8,8284		0,8,4138	yes	missense	SVEP1	NM_153366.3	103	0,8,6075	GG,GC,CC		0.0965,0.0,0.0658	probably-damaging	229/3572	113312230	8,12158	1937	4146	6083	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.686G>C	9.37:g.113312230C>G	ENSP00000384917:p.Arg229Pro		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.R229P	ENST00000401783.2	37	c.686	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206101	0.79127	0.0	9.65E-4	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.066403	0.56097	D	0.000023	D	0.89491	0.6730	L	0.52364	1.645	0.39541	D	0.968821	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.986	D	0.90091	0.4177	10	0.66056	D	0.02	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	229;229;229	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	P	229;206;229;206	ENSP00000384917:R229P;ENSP00000363593:R206P;ENSP00000304118:R229P;ENSP00000363585:R206P	ENSP00000304118:R229P	R	-	2	0	SVEP1	112352051	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	3.683000	0.54663	2.737000	0.93849	0.563000	0.77884	CGA	SVEP1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113312230	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	1.000	G	G	113312230	C	G	113312230	3	3	185	1	0	0	0	0	1	0	0	0	15450	884	31	1	10217	1	SVEP1	9	113312230	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5733797	113312230	27901201	768	35043										
PTGR1	22949	genome.wustl.edu	37	chr9	114325402	114325402	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attccatgtgtcctctttttCatgctttcactattgtcttc	4	11	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:114325402C>G	ENST00000407693.2	-	10	1251	c.989G>C	c.(988-990)tGa>tCa	p.*330S	ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000538962.1_Intron|PTGR1_ENST00000309195.5_Nonstop_Mutation_p.*330S	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	0					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCCTCTTTTTCATGCTTTCAC	0.338																																					Ovarian(200;132 2151 7551 19220 46064)												0													156	135	142					9																	114325402		2202	4299	6501	SO:0001578	stop_lost	22949			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"zinc binding alcohol dehydrogenase domain containing 3"	601274	"leukotriene B4 12-hydroxydehydrogenase"	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.989G>C	9.37:g.114325402C>G			A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Nonstop_Mutation	SNP	pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH	p.*330S	ENST00000407693.2	37	c.989	CCDS6779.1	9	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787905	0.31593	.	.	ENSG00000106853	ENST00000309195;ENST00000407693	.	.	.	5.01	0.875	0.19130	.	.	.	.	.	.	.	.	.	.	.	0.50467	D	0.999875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.34	0.32239	0.0:0.4633:0.0:0.5367	.	.	.	.	S	330	.	.	X	-	2	2	PTGR1	113365223	0.906000	0.30813	0.128000	0.21923	0.550000	0.35303	0.252000	0.18278	0.208000	0.20626	-0.259000	0.10710	TGA	PTGR1	-	NULL		0.338	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGR1	HGNC	protein_coding	OTTHUMT00000053647.2	C			114325402	-1	no_errors	ENST00000309195	ensembl	human	known	70_37	nonstop	SNP	0.161	G	G	114325402	C	G	114325402	4	3	185	1	0	0	0	0	0	0	0	0	12781	837	29	1	35	1	PTGR1	9	114325402	Nonstop_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1013172	114325402	26888029	769	35044										
PRPF4	9128	genome.wustl.edu	37	chr9	116041407	116041407	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agggtcctgctgaaagaagaGaaaggttgcctttctaaata	11	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:116041407G>C	ENST00000374198.4	+	3	493	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	PRPF4_ENST00000488937.1_3'UTR|PRPF4_ENST00000374199.4_Missense_Mutation_p.E130Q	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	131					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TGAAAGAAGAGAAAGGTTGCC	0.378																																																	0													55	53	54					9																	116041407		2203	4300	6503	SO:0001583	missense	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.391G>C	9.37:g.116041407G>C	ENSP00000363313:p.Glu131Gln		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E131Q	ENST00000374198.4	37	c.391	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045212	0.75846	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.64260	-0.09;-0.04	4.91	4.91	0.64330	Pre-mRNA processing factor 4 (PRP4)-like (1);Splicing factor motif (1);	0.225948	0.46145	D	0.000312	T	0.69351	0.3101	L	0.41027	1.25	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.62491	0.903;0.903	T	0.70536	-0.4845	10	0.52906	T	0.07	.	15.4103	0.74914	0.0:0.0:1.0:0.0	.	146;131	Q59EL4;O43172	.;PRP4_HUMAN	Q	130;131	ENSP00000363315:E130Q;ENSP00000363313:E131Q	ENSP00000363313:E131Q	E	+	1	0	PRPF4	115081228	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.816000	0.91979	2.545000	0.85829	0.462000	0.41574	GAA	PRPF4	-	pfam_PRP4,smart_SFM		0.378	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	G	NM_004697		116041407	1	no_errors	ENST00000374198	ensembl	human	known	70_37	missense	SNP	1.000	C	C	116041407	G	C	116041407	3	2	185	1	0	0	0	0	1	0	0	0	12597	943	33	1	401	1	PRPF4	9	116041407	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1716005	116041407	25172024	770	35045										
PRPF4	9128	genome.wustl.edu	37	chr9	116048568	116048568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caacctccttcacactcttcGaggtaagttagagtcttatc	6	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:116048568G>A	ENST00000374198.4	+	8	911	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	PRPF4_ENST00000374199.4_Missense_Mutation_p.R269Q	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	270					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CACACTCTTCGAGGTAAGTTA	0.468																																																	0													207	192	197					9																	116048568		2203	4300	6503	SO:0001583	missense	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.809G>A	9.37:g.116048568G>A	ENSP00000363313:p.Arg270Gln		O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R270Q	ENST00000374198.4	37	c.809	CCDS6791.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.005616	0.97195	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.60672	0.17;0.17	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114963	0.56097	D	0.000040	T	0.56949	0.2020	L	0.41356	1.27	0.80722	D	1	P;P	0.52577	0.954;0.954	P;P	0.44860	0.462;0.462	T	0.58211	-0.7676	10	0.56958	D	0.05	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	285;270	Q59EL4;O43172	.;PRP4_HUMAN	Q	269;270	ENSP00000363315:R269Q;ENSP00000363313:R270Q	ENSP00000363313:R270Q	R	+	2	0	PRPF4	115088389	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.110000	0.94302	2.941000	0.99782	0.655000	0.94253	CGA	PRPF4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	G	NM_004697		116048568	1	no_errors	ENST00000374198	ensembl	human	known	70_37	missense	SNP	1.000	A	A	116048568	G	A	116048568	3	1	185	1	0	0	0	0	1	0	0	0	12597	1058	37	1	839	1	PRPF4	9	116048568	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7161	116048568	25164863	771	35046										
BSPRY	54836	genome.wustl.edu	37	chr9	116116519	116116519	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caagcgttgtttgtgttgcaGaacaagattgtggaccagtg	13	6	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:116116519G>A	ENST00000374183.4	+	2	240		c.e2-1		BSPRY_ENST00000462085.1_Splice_Site	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing						calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ttgtgtTGCAGAACAAGATTG	0.522																																																	0													115	122	119					9																	116116519		2116	4238	6354	SO:0001630	splice_region_variant	54836			AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.202-1G>A	9.37:g.116116519G>A			B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Splice_Site	SNP	-	e2-1	ENST00000374183.4	37	c.202-1	CCDS43868.1	9	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405006	0.62288	.	.	ENSG00000119411	ENST00000374183	.	.	.	5.01	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8736	0.57978	0.0:0.1635:0.8364:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BSPRY	115156340	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.753000	0.68736	1.099000	0.41499	0.591000	0.81541	.	BSPRY	-	-		0.522	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSPRY	HGNC	protein_coding	OTTHUMT00000055399.1	G	NM_017688	Intron	116116519	1	no_errors	ENST00000374183	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	116116519	G	A	116116519	5	1	185	1	0	0	0	0	0	0	1	0	1535	956	33	1	207	1	BSPRY	9	116116519	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	67951	116116519	25096912	772	35047										
KIF12	113220	genome.wustl.edu	37	chr9	116858726	116858726	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcggctggaggcctggttcaGggtgtgggctgagttccttc	17	9	1	1	rs35480554		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:116858726G>C	ENST00000374118.3	-	5	502	c.265C>G	c.(265-267)Ctg>Gtg	p.L89V	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	222	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GCCTGGTTCAGGGTGTGGGCT	0.567																																																	0													97	77	84					9																	116858726		2203	4300	6503	SO:0001583	missense	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.265C>G	9.37:g.116858726G>C	ENSP00000363232:p.Leu89Val		Q5TBE0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L222V	ENST00000374118.3	37	c.664	CCDS6801.1	9	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788054	0.70337	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.75704	-0.96	5.69	3.84	0.44239	Kinesin, motor domain (5);	0.000000	0.47852	D	0.000217	T	0.79446	0.4447	L	0.58354	1.805	0.34192	D	0.672179	P	0.49696	0.927	P	0.61397	0.888	T	0.83306	-0.0025	10	0.87932	D	0	.	6.8102	0.23801	0.0908:0.0:0.7349:0.1743	.	222	Q96FN5	KIF12_HUMAN	V	89;222	ENSP00000363232:L89V	ENSP00000259410:L222V	L	-	1	2	KIF12	115898547	0.997000	0.39634	0.997000	0.53966	0.997000	0.91878	1.937000	0.40193	0.730000	0.32425	0.650000	0.86243	CTG	KIF12	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.567	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	G	NM_138424		116858726	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	missense	SNP	0.998	C	C	116858726	G	C	116858726	3	2	185	1	0	0	0	0	1	0	0	0	8293	991	35	4	1324	4	KIF12	9	116858726	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	742207	116858726	24354705	773	35048										
CEP110	11064	genome.wustl.edu	37	chr9	123888128	123888128	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggaagctgcgggatgagaaaGagacattgttgcagagattg	16	4	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:123888128G>A	ENST00000373855.1	+	14	2199	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K	CNTRL_ENST00000373850.1_Missense_Mutation_p.E95K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E647K|CNTRL_ENST00000373847.1_Missense_Mutation_p.E95K			Q7Z7A1	CNTRL_HUMAN	centriolin	647					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGATGAGAAAGAGACATTGTT	0.463																																																	0													112	118	116					9																	123888128		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1939G>A	9.37:g.123888128G>A	ENSP00000362962:p.Glu647Lys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E647K	ENST00000373855.1	37	c.1939	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953502	0.92660	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.37915	1.51;1.51;1.17;1.23	5.96	5.96	0.96718	.	.	.	.	.	T	0.51770	0.1694	L	0.34521	1.04	0.47778	D	0.999516	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.98;0.977	T	0.42716	-0.9435	9	0.46703	T	0.11	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	647;647;647	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	K	647;647;647;129;95;95	ENSP00000362962:E647K;ENSP00000238341:E647K;ENSP00000362956:E95K;ENSP00000362953:E95K	ENSP00000238341:E647K	E	+	1	0	CNTRL	122927949	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.842000	0.86851	2.831000	0.97527	0.650000	0.86243	GAG	CNTRL	-	NULL		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123888128	1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123888128	G	A	123888128	3	1	185	1	0	0	0	0	1	0	0	0	3250	943	33	1	1985	1	CEP110	9	123888128	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7029402	123888128	17325303	774	35049										
CEP110	11064	genome.wustl.edu	37	chr9	123888142	123888142	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagaaagagacattgttgcaGagattgacagaagtcgagca	13	5	0	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:123888142G>A	ENST00000373855.1	+	14	2213	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q	CNTRL_ENST00000373850.1_Silent_p.Q99Q|CNTRL_ENST00000238341.5_Silent_p.Q651Q|CNTRL_ENST00000373847.1_Silent_p.Q99Q			Q7Z7A1	CNTRL_HUMAN	centriolin	651					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CATTGTTGCAGAGATTGACAG	0.478																																																	0													106	113	110					9																	123888142		2203	4300	6503	SO:0001819	synonymous_variant	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1953G>A	9.37:g.123888142G>A			A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.Q651	ENST00000373855.1	37	c.1953	CCDS35118.1	9																																																																																			CNTRL	-	NULL		0.478	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123888142	1	no_errors	ENST00000238341	ensembl	human	known	70_37	silent	SNP	0.960	A	A	123888142	G	A	123888142	2	1	185	1	0	0	0	0	0	0	0	1	3250	933	33	1		1	CEP110	9	123888142	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	14	123888142	17325289	775	35050										
TTLL11	158135	genome.wustl.edu	37	chr9	124632838	124632838	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccttgatgcccaggaaccgGataaacaaatttgccatcct	7	13	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:124632838G>A	ENST00000321582.5	-	7	2128	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	0					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCAGGAACCGGATAAACAAAT	0.537																																																	0													80	71	74					9																	124632838		692	1591	2283	SO:0001819	synonymous_variant	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000321582.5:c.1941C>T	9.37:g.124632838G>A				Silent	SNP	pfam_Tub_tyr_ligase	p.I647	ENST00000321582.5	37	c.1941	CCDS48012.1	9																																																																																			TTLL11	-	NULL		0.537	TTLL11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL11	HGNC	protein_coding		G	XM_088486		124632838	-1	no_errors	ENST00000321582	ensembl	human	known	70_37	silent	SNP	1.000	A	A	124632838	G	A	124632838	2	1	185	1	0	0	0	0	0	0	0	1	16755	1164	41	1		1	TTLL11	9	124632838	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	744696	124632838	16580593	776	35051										
GAPVD1	26130	genome.wustl.edu	37	chr9	128122832	128122832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcttcgagaagcaccatggcCatctgcacaatcagaaatca	7	12	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:128122832C>T	ENST00000495955.1	+	27	4414	c.4124C>T	c.(4123-4125)cCa>cTa	p.P1375L	GAPVD1_ENST00000470056.1_Missense_Mutation_p.P1330L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P1309L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P1357L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P1349L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P1384L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P1336L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P1375L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1375	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCACCATGGCCATCTGCACAA	0.468																																																	0													128	114	118					9																	128122832		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4124C>T	9.37:g.128122832C>T	ENSP00000419063:p.Pro1375Leu		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.P1384L	ENST00000495955.1	37	c.4151		9	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922464	0.73213	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.66	5.66	0.87406	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.37561	1.115	0.80722	D	1	B;P;B;P;P;P	0.42123	0.241;0.771;0.323;0.724;0.532;0.553	B;B;B;P;B;P	0.50440	0.394;0.348;0.41;0.641;0.41;0.583	T	0.17776	-1.0358	10	0.87932	D	0	.	18.7139	0.91668	0.0:1.0:0.0:0.0	.	1375;390;1330;1336;1357;1384	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	L	1330;1384;1375;1349;1309;1375;1357;1336;68	ENSP00000419767:P1330L;ENSP00000377665:P1384L;ENSP00000377664:P1375L;ENSP00000265956:P1349L;ENSP00000377645:P1309L;ENSP00000419063:P1375L;ENSP00000297933:P1357L;ENSP00000309582:P1336L	ENSP00000265956:P1349L	P	+	2	0	GAPVD1	127162653	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.664000	0.90586	0.591000	0.81541	CCA	GAPVD1	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9		0.468	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	C			128122832	1	no_errors	ENST00000394105	ensembl	human	known	70_37	missense	SNP	1.000	T	T	128122832	C	T	128122832	3	4	185	1	0	0	0	0	1	0	0	0	6258	594	21	4	4249	4	GAPVD1	9	128122832	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3489994	128122832	13090599	777	35052										
FAM125B	89853	genome.wustl.edu	37	chr9	129184194	129184194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acagcacccggacggactacGagtaccagcactccaatttg	9	14	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:129184194G>A	ENST00000361171.3	+	7	805	c.724G>A	c.(724-726)Gag>Aag	p.E242K	MVB12B_ENST00000436593.3_Missense_Mutation_p.E227K	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	242					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										GACGGACTACGAGTACCAGCA	0.567																																																	0													156	133	141					9																	129184194		2203	4300	6503	SO:0001583	missense	89853			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.724G>A	9.37:g.129184194G>A	ENSP00000354772:p.Glu242Lys		Q8N6S7	Missense_Mutation	SNP	pfam_FAM125	p.E242K	ENST00000361171.3	37	c.724	CCDS35142.1	9	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564554	0.86439	.	.	ENSG00000196814	ENST00000361171;ENST00000436593	T;T	0.43294	0.95;0.95	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	L	0.58669	1.825	0.80722	D	1	D;D;D	0.63046	0.992;0.963;0.992	P;P;P	0.53649	0.731;0.548;0.731	T	0.49312	-0.8953	10	0.32370	T	0.25	-15.1442	18.8661	0.92293	0.0:0.0:1.0:0.0	.	227;111;242	B7Z1P9;Q9H7N7;Q9H7P6	.;.;F125B_HUMAN	K	242;227	ENSP00000354772:E242K;ENSP00000401379:E227K	ENSP00000354772:E242K	E	+	1	0	FAM125B	128224015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.473000	0.90410	2.526000	0.85167	0.585000	0.79938	GAG	FAM125B	-	pfam_FAM125		0.567	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM125B	HGNC	protein_coding	OTTHUMT00000054110.1	G	XM_088525		129184194	1	no_errors	ENST00000361171	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129184194	G	A	129184194	3	1	185	1	0	0	0	0	1	0	0	0	5443	1059	37	1	754	1	FAM125B	9	129184194	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1061362	129184194	12029237	778	35053										
ST6GALNAC6	30815	genome.wustl.edu	37	chr9	130652973	130652973	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attgccgcatgcggccgggaGagacggcatatgcttccatg	14	11	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:130652973G>A	ENST00000373146.1	-	5	826	c.647C>T	c.(646-648)tCt>tTt	p.S216F	ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.S182F|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.S182F|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.S216F|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.S216F			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	216					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCGGCCGGGAGAGACGGCATA	0.662																																																	0													43	46	45					9																	130652973		2203	4299	6502	SO:0001583	missense	30815			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.647C>T	9.37:g.130652973G>A	ENSP00000362239:p.Ser216Phe		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.S216F	ENST00000373146.1	37	c.647	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243128	0.79912	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.81	5.81	0.92471	.	0.283144	0.41294	D	0.000904	T	0.60444	0.2269	M	0.81341	2.54	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.987;0.987	T	0.63422	-0.6641	10	0.87932	D	0	-18.7763	18.6495	0.91425	0.0:0.0:1.0:0.0	.	182;216	Q969X2-2;Q969X2	.;SIA7F_HUMAN	F	216;182;216;182;216;182	ENSP00000362239:S216F;ENSP00000362234:S182F;ENSP00000362235:S216F;ENSP00000362237:S182F;ENSP00000291839:S216F;ENSP00000405326:S182F	ENSP00000291839:S216F	S	-	2	0	ST6GALNAC6	129692794	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	7.861000	0.87004	2.749000	0.94314	0.655000	0.94253	TCT	ST6GALNAC6	-	pfam_Glyco_trans_29		0.662	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	G	NM_013443		130652973	-1	no_errors	ENST00000291839	ensembl	human	known	70_37	missense	SNP	1.000	A	A	130652973	G	A	130652973	3	1	185	1	0	0	0	0	1	0	0	0	15258	942	33	1	366	1	ST6GALNAC6	9	130652973	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1468779	130652973	10560458	779	35054										
ST6GALNAC6	30815	genome.wustl.edu	37	chr9	130653221	130653221	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgggtgcatcattcatgcgGattgtacactcagcccgctc	11	12	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:130653221G>A	ENST00000373146.1	-	5	578	c.399C>T	c.(397-399)atC>atT	p.I133I	ST6GALNAC6_ENST00000373144.3_Silent_p.I99I|ST6GALNAC6_ENST00000373141.1_Silent_p.I99I|ST6GALNAC6_ENST00000291839.5_Silent_p.I133I|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373142.1_Silent_p.I133I			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	133					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATTCATGCGGATTGTACACT	0.607																																																	0													95	85	88					9																	130653221		2203	4300	6503	SO:0001819	synonymous_variant	30815			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.399C>T	9.37:g.130653221G>A			B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	pfam_Glyco_trans_29	p.I133	ENST00000373146.1	37	c.399	CCDS6882.1	9																																																																																			ST6GALNAC6	-	pfam_Glyco_trans_29		0.607	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	G	NM_013443		130653221	-1	no_errors	ENST00000291839	ensembl	human	known	70_37	silent	SNP	1.000	A	A	130653221	G	A	130653221	2	1	185	1	0	0	0	0	0	0	0	1	15258	1164	41	1		1	ST6GALNAC6	9	130653221	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	248	130653221	10560210	780	35055										
SPTAN1	6709	genome.wustl.edu	37	chr9	131345069	131345069	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcagtttttccgtgattctGatgagctcaagagttgggtc	12	7	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:131345069G>C	ENST00000372731.4	+	14	1857	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.D583H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D583H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	583					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGTGATTCTGATGAGCTCAA	0.488																																					NSCLC(120;833 1744 2558 35612 37579)												0													105	104	105					9																	131345069		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1747G>C	9.37:g.131345069G>C	ENSP00000361816:p.Asp583His		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.D583H	ENST00000372731.4	37	c.1747	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043439	0.93685	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.38560	1.13;1.13;1.13	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	L	0.52011	1.625	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.989;0.998;1.0;0.996;0.995	T	0.61850	-0.6978	10	0.87932	D	0	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	583;583;583;583;583	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	H	583	ENSP00000350882:D583H;ENSP00000361816:D583H;ENSP00000361824:D583H	ENSP00000350882:D583H	D	+	1	0	SPTAN1	130384890	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	9.476000	0.97823	2.756000	0.94617	0.561000	0.74099	GAT	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131345069	1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	C	C	131345069	G	C	131345069	3	2	185	1	0	0	0	0	1	0	0	0	15147	1290	45	1	1797	1	SPTAN1	9	131345069	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	691848	131345069	9868362	781	35056										
SPTAN1	6709	genome.wustl.edu	37	chr9	131389689	131389689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggagctggagctgcagaagGaacagcggcggcaggaggag	21	7	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:131389689G>A	ENST00000372731.4	+	49	6696	c.6586G>A	c.(6586-6588)Gaa>Aaa	p.E2196K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2201K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2201K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2196					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCTGCAGAAGGAACAGCGGCG	0.647																																					NSCLC(120;833 1744 2558 35612 37579)												0													36	24	28					9																	131389689		2029	3899	5928	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6586G>A	9.37:g.131389689G>A	ENSP00000361816:p.Glu2196Lys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E2201K	ENST00000372731.4	37	c.6601	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425424	0.83667	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.73681	-0.77;-0.77;-0.77	5.4	5.4	0.78164	.	0.102678	0.64402	D	0.000004	D	0.89911	0.6852	M	0.92507	3.315	0.80722	D	1	D;D;D;B	0.89917	1.0;0.999;0.974;0.0	D;D;D;B	0.91635	0.999;0.997;0.953;0.0	D	0.91974	0.5589	10	0.72032	D	0.01	.	19.1858	0.93644	0.0:0.0:1.0:0.0	.	1185;2176;2201;2196	Q9UG16;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	K	2201;2196;2201;2176;445	ENSP00000350882:E2201K;ENSP00000361816:E2196K;ENSP00000361824:E2201K	ENSP00000350882:E2201K	E	+	1	0	SPTAN1	130429510	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.400000	0.97290	2.531000	0.85337	0.655000	0.94253	GAA	SPTAN1	-	NULL		0.647	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131389689	1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131389689	G	A	131389689	3	1	185	1	0	0	0	0	1	0	0	0	15147	1175	41	1	6795	1	SPTAN1	9	131389689	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	44620	131389689	9823742	782	35057										
FUBP3	8939	genome.wustl.edu	37	chr9	133470931	133470931	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacacctctagtggacccctCagtatatggatacggagtac	9	12	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:133470931C>T	ENST00000319725.9	+	2	221	c.146C>T	c.(145-147)tCa>tTa	p.S49L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	49					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GTGGACCCCTCAGTATATGGA	0.413																																																	0													180	164	169					9																	133470931		1850	4091	5941	SO:0001583	missense	8939			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.146C>T	9.37:g.133470931C>T	ENSP00000318177:p.Ser49Leu		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.S49L	ENST00000319725.9	37	c.146	CCDS43893.1	9	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428121	0.62844	.	.	ENSG00000107164	ENST00000358721;ENST00000319725	T	0.47528	0.84	5.73	3.88	0.44766	.	0.062767	0.64402	D	0.000003	T	0.42743	0.1216	L	0.57536	1.79	0.80722	D	1	P	0.46512	0.879	B	0.40101	0.319	T	0.37150	-0.9718	10	0.54805	T	0.06	-2.3143	10.319	0.43753	0.0:0.7904:0.136:0.0737	.	49	Q96I24	FUBP3_HUMAN	L	36;49	ENSP00000318177:S49L	ENSP00000318177:S49L	S	+	2	0	FUBP3	132460752	0.996000	0.38824	0.854000	0.33618	0.992000	0.81027	3.749000	0.55150	0.768000	0.33290	0.655000	0.94253	TCA	FUBP3	-	NULL		0.413	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	C			133470931	1	no_errors	ENST00000319725	ensembl	human	known	70_37	missense	SNP	0.983	T	T	133470931	C	T	133470931	3	4	185	1	0	0	0	0	1	0	0	0	6111	838	29	1	152	1	FUBP3	9	133470931	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2081242	133470931	7742500	783	35058										
BAT2L1	84726	genome.wustl.edu	37	chr9	134348985	134348985	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtgcccccactccaagaaaGaaaagtgacccccatcgact	7	15	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:134348985G>C	ENST00000357304.4	+	14	2253	c.2198G>C	c.(2197-2199)aGa>aCa	p.R733T	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R733T|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R733T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	733							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCCAAGAAAGAAAAGTGACC	0.597																																																	0													35	38	37					9																	134348985		1947	4124	6071	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2198G>C	9.37:g.134348985G>C	ENSP00000349856:p.Arg733Thr		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.R733T	ENST00000357304.4	37	c.2198	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956883	0.92726	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000418650;ENST00000456307	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.84	5.84	0.93424	.	0.000000	0.44688	U	0.000435	T	0.44912	0.1316	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.85130	0.997;0.977	T	0.12243	-1.0555	10	0.41790	T	0.15	-11.2662	19.1433	0.93455	0.0:0.0:1.0:0.0	.	29;733	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	T	733;733;733;29;2	ENSP00000384606:R733T;ENSP00000349856:R733T;ENSP00000398853:R733T;ENSP00000400608:R2T	ENSP00000349856:R733T	R	+	2	0	PRRC2B	133338806	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.128000	0.77217	2.760000	0.94817	0.655000	0.94253	AGA	PRRC2B	-	NULL		0.597	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134348985	1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134348985	G	C	134348985	3	2	185	1	0	0	0	0	1	0	0	0	1321	942	33	1	2252	1	BAT2L1	9	134348985	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	878054	134348985	6864446	784	35059			2	141		4	4	1578	G		9.097022e-05
BAT2L1	84726	genome.wustl.edu	37	chr9	134349046	134349046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagggctacatggcactgcaGagcaagggctacccgctccc	13	14	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:134349046G>C	ENST00000357304.4	+	14	2314	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.Q753H|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Q753H	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	753							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGCACTGCAGAGCAAGGGCT	0.597																																																	0													36	39	38					9																	134349046		2050	4184	6234	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2259G>C	9.37:g.134349046G>C	ENSP00000349856:p.Gln753His		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.Q753H	ENST00000357304.4	37	c.2259	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363022	0.41902	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000418650;ENST00000456307	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.84	3.69	0.42338	.	0.186893	0.25363	U	0.031211	T	0.11410	0.0278	L	0.59436	1.845	0.80722	D	1	B;B	0.23806	0.091;0.016	B;B	0.17433	0.018;0.005	T	0.04885	-1.0920	10	0.51188	T	0.08	-15.3732	8.2534	0.31739	0.159:0.1341:0.7068:0.0	.	49;753	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	H	753;753;753;49;22	ENSP00000384606:Q753H;ENSP00000349856:Q753H;ENSP00000398853:Q753H;ENSP00000400608:Q22H	ENSP00000349856:Q753H	Q	+	3	2	PRRC2B	133338867	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.193000	0.32162	1.475000	0.48197	0.655000	0.94253	CAG	PRRC2B	-	NULL		0.597	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134349046	1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134349046	G	C	134349046	3	2	185	1	0	0	0	0	1	0	0	0	1321	933	33	1	2313	1	BAT2L1	9	134349046	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	61	134349046	6864385	785	35060			2	141		4	4	1578	G		9.097022e-05
BAT2L1	84726	genome.wustl.edu	37	chr9	134349845	134349845	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctggttccttttcaggaatGaaagctctttctctgcctca	7	11	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:134349845G>C	ENST00000357304.4	+	15	2384	c.2329G>C	c.(2329-2331)Gaa>Caa	p.E777Q	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	777							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTTCAGGAATGAAAGCTCTTT	0.463																																																	0													70	72	72					9																	134349845		1900	4124	6024	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2329G>C	9.37:g.134349845G>C	ENSP00000349856:p.Glu777Gln		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.E777Q	ENST00000357304.4	37	c.2329	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785049	0.90282	.	.	ENSG00000130723	ENST00000357304;ENST00000418650;ENST00000456307	T;T	0.12255	2.7;2.7	5.46	5.46	0.80206	.	.	.	.	.	T	0.32376	0.0827	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.68039	0.955;0.767	T	0.00534	-1.1684	9	0.32370	T	0.25	.	18.3038	0.90174	0.0:0.0:1.0:0.0	.	73;777	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	Q	777;73;46	ENSP00000349856:E777Q;ENSP00000400608:E46Q	ENSP00000349856:E777Q	E	+	1	0	PRRC2B	133339666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.537000	0.73847	2.567000	0.86603	0.655000	0.94253	GAA	PRRC2B	-	NULL		0.463	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134349845	1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134349845	G	C	134349845	3	2	185	1	0	0	0	0	1	0	0	0	1321	1291	45	1	2387	1	BAT2L1	9	134349845	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	799	134349845	6863586	786	35061			2	141		4	4	1578	G		9.097022e-05
BAT2L1	84726	genome.wustl.edu	37	chr9	134350562	134350562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccatgccacttttggccgcGaggccaccaaatttgaagag	11	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:134350562G>A	ENST00000357304.4	+	15	3101	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1016							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTTTGGCCGCGAGGCCACCAA	0.562																																																	0													28	32	30					9																	134350562		1925	4116	6041	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3046G>A	9.37:g.134350562G>A	ENSP00000349856:p.Glu1016Lys		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.E1016K	ENST00000357304.4	37	c.3046	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304569	0.23736	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.01584	4.75	5.61	4.7	0.59300	.	.	.	.	.	T	0.02012	0.0063	L	0.47716	1.5	0.80722	D	1	P;B	0.42357	0.777;0.291	B;B	0.30179	0.112;0.016	T	0.65100	-0.6250	8	.	.	.	.	14.9429	0.71009	0.0:0.0:0.856:0.144	.	312;1016	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	K	1016;312	ENSP00000349856:E1016K	.	E	+	1	0	PRRC2B	133340383	1.000000	0.71417	0.403000	0.26384	0.046000	0.14306	4.705000	0.61838	1.330000	0.45394	0.655000	0.94253	GAG	PRRC2B	-	NULL		0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134350562	1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	0.769	A	A	134350562	G	A	134350562	3	1	185	1	0	0	0	0	1	0	0	0	1321	1059	37	1	3104	1	BAT2L1	9	134350562	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	717	134350562	6862869	787	35062			2	141		4	4	1578	G		9.097022e-05
SETX	23064	genome.wustl.edu	37	chr9	135211731	135211731	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcatacatgtgtgagggcaGaagaatcagtttacccttct	9	8	3	3	rs141974509		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:135211731G>C	ENST00000224140.5	-	6	852	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	SETX_ENST00000372169.2_Missense_Mutation_p.L224V|SETX_ENST00000393220.1_Missense_Mutation_p.L224V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	224					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGTGAGGGCAGAAGAATCAGT	0.348																																																	0								G	VAL/LEU	1,4405	2.1+/-5.4	0,1,2202	84	79	81		670	3.1	1	9	dbSNP_134	81	0,8600		0,0,4300	no	missense	SETX	NM_015046.5	32	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	224/2678	135211731	1,13005	2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.670C>G	9.37:g.135211731G>C	ENSP00000224140:p.Leu224Val		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.L224V	ENST00000224140.5	37	c.670	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542348	0.65198	2.27E-4	0.0	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.66099	-0.19;-0.19;-0.19	6.04	3.1	0.35709	.	0.000000	0.64402	D	0.000010	T	0.65954	0.2741	L	0.34521	1.04	0.29755	N	0.835992	D	0.76494	0.999	D	0.80764	0.994	T	0.62286	-0.6886	10	0.87932	D	0	.	8.4059	0.32614	0.3163:0.0:0.6837:0.0	.	224	Q7Z333	SETX_HUMAN	V	224	ENSP00000224140:L224V;ENSP00000361242:L224V;ENSP00000376913:L224V	ENSP00000224140:L224V	L	-	1	2	SETX	134201552	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.832000	0.27490	0.819000	0.34492	0.650000	0.86243	CTG	SETX	-	NULL		0.348	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	G	NM_015046		135211731	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135211731	G	C	135211731	3	2	185	1	0	0	0	0	1	0	0	0	14171	933	33	1	7447	1	SETX	9	135211731	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	861169	135211731	6001700	788	35063										
TTF1	7270	genome.wustl.edu	37	chr9	135266142	135266142	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttaactcctggggagacatCttcttcagaatcacttcttc	6	11	5	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:135266142C>A	ENST00000334270.2	-	7	2103	c.2064G>T	c.(2062-2064)aaG>aaT	p.K688N		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	688	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGGGAGACATCTTCTTCAGAA	0.403																																																	0													149	156	154					9																	135266142		2203	4300	6503	SO:0001583	missense	7270			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2064G>T	9.37:g.135266142C>A	ENSP00000333920:p.Lys688Asn		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K688N	ENST00000334270.2	37	c.2064	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623438	0.66901	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11712	2.75	5.58	-0.842	0.10748	SANT domain, DNA binding (1);MYB-like (1);	0.184106	0.34750	N	0.003710	T	0.12263	0.0298	L	0.27053	0.805	0.27393	N	0.955062	D	0.63880	0.993	P	0.58391	0.838	T	0.22487	-1.0215	10	0.21540	T	0.41	.	10.364	0.44012	0.0:0.674:0.0:0.326	.	688	Q15361	TTF1_HUMAN	N	688	ENSP00000333920:K688N	ENSP00000245588:K688N	K	-	3	2	TTF1	134255963	0.608000	0.26966	0.997000	0.53966	0.868000	0.49771	-0.036000	0.12185	-0.131000	0.11578	-0.294000	0.09567	AAG	TTF1	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.403	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	C	NM_007344		135266142	-1	no_errors	ENST00000334270	ensembl	human	known	70_37	missense	SNP	0.995	A	A	135266142	C	A	135266142	3	1	185	1	0	0	0	0	1	0	0	0	16749	912	32	3	673	3	TTF1	9	135266142	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	54411	135266142	5947289	789	35064										
RALGDS	5900	genome.wustl.edu	37	chr9	135985795	135985795	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaaggctggcaccaggtgctCcaccagcttctccagcgtgc	12	15	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:135985795C>G	ENST00000372050.3	-	3	397	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	RALGDS_ENST00000393157.3_Missense_Mutation_p.E125Q|RALGDS_ENST00000469972.1_5'Flank|RALGDS_ENST00000393160.3_Missense_Mutation_p.E71Q|RALGDS_ENST00000542690.1_Missense_Mutation_p.E197Q|RALGDS_ENST00000372062.3_Missense_Mutation_p.E109Q|RALGDS_ENST00000372047.3_Missense_Mutation_p.E126Q	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	126	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACCAGGTGCTCCACCAGCTTC	0.587			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0													94	82	86					9																	135985795		2202	4300	6502	SO:0001583	missense	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.376G>C	9.37:g.135985795C>G	ENSP00000361120:p.Glu126Gln		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E197Q	ENST00000372050.3	37	c.589	CCDS6959.1	9	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661797	0.67700	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	5.88	4.05	0.47172	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.424036	0.22489	N	0.059381	T	0.68632	0.3022	M	0.70787	2.145	0.37305	D	0.908884	D;D;D;D;D;D	0.71674	0.998;0.961;0.982;0.982;0.982;0.982	D;P;P;P;P;P	0.80764	0.994;0.454;0.767;0.824;0.824;0.824	T	0.73269	-0.4036	10	0.66056	D	0.02	.	10.439	0.44452	0.1342:0.7968:0.0:0.069	.	197;109;71;125;126;126	F5H6M6;E7ER93;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;GNDS_HUMAN	Q	126;126;71;125;197;109	ENSP00000361120:E126Q;ENSP00000361117:E126Q;ENSP00000376867:E71Q;ENSP00000376864:E125Q;ENSP00000437518:E197Q;ENSP00000361132:E109Q	ENSP00000361117:E126Q	E	-	1	0	RALGDS	134975616	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.796000	0.85898	0.827000	0.34685	0.655000	0.94253	GAG	RALGDS	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.587	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	C	NM_006266		135985795	-1	no_errors	ENST00000542690	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135985795	C	G	135985795	3	3	185	1	0	0	0	0	1	0	0	0	13046	864	30	1	2432	1	RALGDS	9	135985795	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	719653	135985795	5227636	790	35065										
CAMSAP1	157922	genome.wustl.edu	37	chr9	138754361	138754361	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atagtgaatcacagctaagaGagcagcaccatcactgccgt	9	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:138754361G>C	ENST00000389532.4	-	5	824	c.760C>G	c.(760-762)Ctc>Gtc	p.L254V	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L265V|CAMSAP1_ENST00000312405.6_Intron	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	254	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ACAGCTAAGAGAGCAGCACCA	0.483																																																	0													111	90	96					9																	138754361		692	1591	2283	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.760C>G	9.37:g.138754361G>C	ENSP00000374183:p.Leu254Val		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.L265V	ENST00000389532.4	37	c.793	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335448	0.60853	.	.	ENSG00000130559	ENST00000389532;ENST00000409386	D;T	0.97665	-4.48;1.53	5.0	5.0	0.66597	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (2);	0.000000	0.64402	U	0.000004	D	0.97961	0.9329	M	0.70275	2.135	0.50813	D	0.999898	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98340	1.0538	10	0.87932	D	0	-19.335	13.0347	0.58862	0.0785:0.0:0.9215:0.0	.	254;265	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	V	254;265	ENSP00000374183:L254V;ENSP00000386420:L265V	ENSP00000374183:L254V	L	-	1	0	CAMSAP1	137894182	1.000000	0.71417	0.606000	0.28943	0.922000	0.55478	4.591000	0.61019	2.482000	0.83794	0.563000	0.77884	CTC	CAMSAP1	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain		0.483	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	G	XM_351857		138754361	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	0.975	C	C	138754361	G	C	138754361	3	2	185	1	0	0	0	0	1	0	0	0	2616	942	33	1	4100	1	CAMSAP1	9	138754361	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2768566	138754361	2459070	791	35066										
LHX3	8022	genome.wustl.edu	37	chr9	139092469	139092469	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taaacgctctcccctcggctGaagcagcgctcggccagtgg	12	15	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:139092469G>A	ENST00000371748.5	-	2	306	c.210C>T	c.(208-210)ttC>ttT	p.F70F	LHX3_ENST00000371746.3_Silent_p.F75F	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	70	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CCCCTCGGCTGAAGCAGCGCT	0.622																																																	0													80	61	68					9																	139092469		2203	4300	6503	SO:0001819	synonymous_variant	8022			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.210C>T	9.37:g.139092469G>A			Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.F75	ENST00000371748.5	37	c.225	CCDS6994.1	9																																																																																			LHX3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.622	LHX3-001	KNOWN	basic|CCDS	protein_coding	LHX3	HGNC	protein_coding	OTTHUMT00000055048.3	G			139092469	-1	no_errors	ENST00000371746	ensembl	human	known	70_37	silent	SNP	1.000	A	A	139092469	G	A	139092469	2	1	185	1	0	0	0	0	0	0	0	1	8792	1281	45	1		1	LHX3	9	139092469	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	338108	139092469	2120962	792	35067										
PMPCA	23203	genome.wustl.edu	37	chr9	139312472	139312472	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgttttcttggttacagctaGaaagagacatgtccaatgtc	9	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:139312472G>C	ENST00000371717.3	+	8	910	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	PMPCA_ENST00000399219.3_Missense_Mutation_p.E170Q|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	301					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GTTACAGCTAGAAAGAGACAT	0.522																																																	0													167	166	167					9																	139312472		2203	4300	6503	SO:0001583	missense	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.901G>C	9.37:g.139312472G>C	ENSP00000360782:p.Glu301Gln		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.E301Q	ENST00000371717.3	37	c.901	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265079	0.59431	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.34072	3.15;3.15;1.38	5.38	5.38	0.77491	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.093030	0.64402	D	0.000001	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	B;B;B;B	0.24258	0.1;0.014;0.059;0.014	B;B;B;B	0.25405	0.06;0.042;0.046;0.042	T	0.07404	-1.0774	10	0.21014	T	0.42	.	18.1057	0.89519	0.0:0.0:1.0:0.0	.	170;301;9;301	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	Q	301;170;9	ENSP00000360782:E301Q;ENSP00000416702:E170Q;ENSP00000408393:E9Q	ENSP00000360782:E301Q	E	+	1	0	PMPCA	138432293	1.000000	0.71417	0.962000	0.40283	0.900000	0.52787	9.567000	0.98161	2.516000	0.84829	0.555000	0.69702	GAA	PMPCA	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.522	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	G	NM_015160		139312472	1	no_errors	ENST00000371717	ensembl	human	known	70_37	missense	SNP	1.000	C	C	139312472	G	C	139312472	3	2	185	1	0	0	0	0	1	0	0	0	12164	943	33	1	931	1	PMPCA	9	139312472	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	220003	139312472	1900959	793	35068										
SEC16A	9919	genome.wustl.edu	37	chr9	139371806	139371806	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacaagcaaaccggggtgctGagaaaaccctgcgggggctg	15	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:139371806G>A	ENST00000313050.7	-	1	335	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000371706.3_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCGGGGTGCTGAGAAAACCCT	0.572																																																	0													70	75	73					9																	139371806		1971	4137	6108	SO:0001587	stop_gained	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.262C>T	9.37:g.139371806G>A	ENSP00000325827:p.Gln88*		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	NULL	p.Q88*	ENST00000313050.7	37	c.262	CCDS55351.1	9	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702595	0.88924	.	.	ENSG00000148396	ENST00000313050	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8187	0.92088	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	.	Q	-	1	0	SEC16A	138491627	1.000000	0.71417	0.940000	0.37924	0.087000	0.18053	9.179000	0.94861	2.692000	0.91855	0.655000	0.94253	CAG	SEC16A	-	NULL		0.572	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16A	HGNC	protein_coding		G	XM_088459		139371806	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	139371806	G	A	139371806	4	1	185	1	0	0	0	0	0	1	0	0	14016	1299	45	1	6931	1	SEC16A	9	139371806	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	59334	139371806	1841625	794	35069										
MAMDC4	8721	genome.wustl.edu	37	chr9	139754394	139754394	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttggcagtgccctcctattgCtcatgctcctggtgctgctg	11	13	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:139754394C>G	ENST00000224073.1	-	0	640				MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.L1163V|MAMDC4_ENST00000317446.2_Missense_Mutation_p.L1084V	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1						endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTCCTATTGCTCATGCTCCT	0.647																																																	0													67	65	66					9																	139754394		2199	4300	6499	SO:0001628	intergenic_variant	158056			AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948		9.37:g.139754394C>G			Q5T5T2|Q9UIM1	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom	p.L1163V	ENST00000224073.1	37	c.3487	CCDS7011.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.23|10.23	1.292159|1.292159	0.23564|0.23564	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.01933	.|4.61;4.55	4.68|4.68	0.405|0.405	0.16361|0.16361	.|.	.|1.258610	.|0.05826	.|N	.|0.616706	T|T	0.02047|0.02047	0.0064|0.0064	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B;B	.|0.34015	.|0.435;0.112	.|B;B	.|0.27887	.|0.084;0.032	T|T	0.47368|0.47368	-0.9123|-0.9123	5|10	.|0.15066	.|T	.|0.55	-18.5777|-18.5777	2.6399|2.6399	0.04968|0.04968	0.1459:0.5237:0.1433:0.187|0.1459:0.5237:0.1433:0.187	.|.	.|1163;1084	.|Q6UXC1;Q6UXC1-2	.|AEGP_HUMAN;.	G|V	1148|1084;1163	.|ENSP00000319388:L1084V;ENSP00000411339:L1163V	.|ENSP00000319388:L1084V	A|L	+|+	2|1	0|0	MAMDC4|MAMDC4	138874215|138874215	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.293000|0.293000	0.27360|0.27360	-0.278000|-0.278000	0.08490|0.08490	0.507000|0.507000	0.28148|0.28148	-0.258000|-0.258000	0.10820|0.10820	GCT|CTC	MAMDC4	-	NULL		0.647	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000055143.1	C			139754394	1	no_errors	ENST00000445819	ensembl	human	known	70_37	missense	SNP	0.000	G	G	139754394	C	G	139754394	1	3	185	0	1	0	0	0	0	0	0	0	9227	797	28	4		4	MAMDC4	9	139754394	IGR	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	382588	139754394	1459037	795	35070										
C9orf167	54863	genome.wustl.edu	37	chr9	140173556	140173556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccaagttctcaacgctatcGagaacctggacgataacgcg	9	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:140173556G>A	ENST00000357503.2	+	2	611	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	139					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										CAACGCTATCGAGAACCTGGA	0.657																																																	0													20	16	18					9																	140173556		2198	4297	6495	SO:0001583	missense	54863			AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 167"	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.415G>A	9.37:g.140173556G>A	ENSP00000350102:p.Glu139Lys		A2BFA4	Missense_Mutation	SNP	pfam_Torsin,smart_AAA+_ATPase	p.E139K	ENST00000357503.2	37	c.415	CCDS7041.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.508241	0.96386	.	.	ENSG00000198113	ENST00000357503	T	0.67171	-0.25	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84352	0.0533	10	0.87932	D	0	-16.0929	15.9612	0.79930	0.0:0.0:1.0:0.0	.	139	Q9NXH8	CI167_HUMAN	K	139	ENSP00000350102:E139K	ENSP00000350102:E139K	E	+	1	0	C9orf167	139293377	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.086000	0.71352	2.097000	0.63578	0.561000	0.74099	GAG	TOR4A	-	NULL		0.657	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR4A	HGNC	protein_coding	OTTHUMT00000254711.1	G	NM_017723		140173556	1	no_errors	ENST00000357503	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140173556	G	A	140173556	3	1	185	1	0	0	0	0	1	0	0	0	2473	1059	37	1	417	1	C9orf167	9	140173556	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	419162	140173556	1039875	796	35071										
PNPLA7	375775	genome.wustl.edu	37	chr9	140355119	140355119	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctgggctgaggtgctctgGaagtctgcgtatgcatccct	14	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr9:140355119G>A	ENST00000277531.4	-	33	4023	c.3837C>T	c.(3835-3837)ttC>ttT	p.F1279F	NSMF_ENST00000371472.2_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.F1304F|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.F885F|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000392812.4_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1279					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGGTGCTCTGGAAGTCTGCGT	0.647																																																	0													102	84	90					9																	140355119		2202	4299	6501	SO:0001819	synonymous_variant	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3837C>T	9.37:g.140355119G>A			B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F1304	ENST00000277531.4	37	c.3912	CCDS7045.1	9																																																																																			PNPLA7	-	NULL		0.647	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	G	NM_152286		140355119	-1	no_errors	ENST00000406427	ensembl	human	known	70_37	silent	SNP	1.000	A	A	140355119	G	A	140355119	2	1	185	1	0	0	0	0	0	0	0	1	12194	1165	41	1		1	PNPLA7	9	140355119	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	181563	140355119	858312	797	35072										
KLF6	1316	genome.wustl.edu	37	chr10	3824162	3824162	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgtgggagaaagttcctcgGagctgtcagaggattcgctg	15	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:3824162G>C	ENST00000497571.1	-	2	607	c.347C>G	c.(346-348)tCc>tGc	p.S116C	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Missense_Mutation_p.S116C|KLF6_ENST00000469435.1_Missense_Mutation_p.S116C	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	116			S -> P (found in prostate cancer samples; somatic mutation; does not up-regulates CDKN1A in a p53-independent manner and significantly reduces cell proliferation). {ECO:0000269|PubMed:11752579}.		B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAGTTCCTCGGAGCTGTCAGA	0.537											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													151	162	158					10																	3824162		2203	4300	6503	SO:0001583	missense	1316			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.347C>G	10.37:g.3824162G>C	ENSP00000419923:p.Ser116Cys	614	B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S116C	ENST00000497571.1	37	c.347	CCDS7060.1	10	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912182	0.72983	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.56103	3.29;0.48;0.7	4.99	4.99	0.66335	.	0.058884	0.64402	D	0.000001	T	0.68686	0.3028	M	0.61703	1.905	0.58432	D	0.999999	B;D;D;B	0.89917	0.003;0.998;1.0;0.004	B;D;D;B	0.68943	0.007;0.957;0.961;0.01	T	0.71586	-0.4548	10	0.62326	D	0.03	.	15.4405	0.75178	0.0:0.0:1.0:0.0	.	116;116;116;116	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	C	116	ENSP00000419923:S116C;ENSP00000445301:S116C;ENSP00000419079:S116C	ENSP00000419079:S116C	S	-	2	0	KLF6	3814162	1.000000	0.71417	0.982000	0.44146	0.935000	0.57460	7.491000	0.81471	2.309000	0.77851	0.561000	0.74099	TCC	KLF6	-	NULL		0.537	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF6	HGNC	protein_coding	OTTHUMT00000046495.1	G			3824162	-1	no_errors	ENST00000497571	ensembl	human	known	70_37	missense	SNP	0.999	C	C	3824162	G	C	3824162	3	2	185	1	0	0	0	0	1	0	0	0	8370	1174	41	1	516	1	KLF6	10	3824162	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		3824162	131710585	798	35073										
C10orf18	54906	genome.wustl.edu	37	chr10	5790636	5790636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attgaatgtcggggtttcctCcctttgtgctggtccctacc	10	12	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:5790636C>T	ENST00000328090.5	+	15	5877	c.5252C>T	c.(5251-5253)tCc>tTc	p.S1751F		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1751																	GGGGTTTCCTCCCTTTGTGCT	0.448																																																	0													74	74	74					10																	5790636		1981	4170	6151	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5252C>T	10.37:g.5790636C>T	ENSP00000328426:p.Ser1751Phe		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.S1751F	ENST00000328090.5	37	c.5252	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882375	0.33255	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.05081	3.5	5.58	3.73	0.42828	.	1.424010	0.04024	N	0.300238	T	0.06371	0.0164	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37663	-0.9696	10	0.46703	T	0.11	.	8.632	0.33926	0.0:0.8235:0.0:0.1765	.	1751	Q5VWN6	F208B_HUMAN	F	1751;946	ENSP00000328426:S1751F	ENSP00000328426:S1751F	S	+	2	0	C10orf18	5830642	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.365000	0.20348	0.727000	0.32360	0.563000	0.77884	TCC	FAM208B	-	NULL		0.448	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	C	NM_017782		5790636	1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.001	T	T	5790636	C	T	5790636	3	4	185	1	0	0	0	0	1	0	0	0	1600	855	30	1	5298	1	C10orf18	10	5790636	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1966474	5790636	129744111	799	35074										
VIM	7431	genome.wustl.edu	37	chr10	17278316	17278316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctaatctggattcactccctCtggttgatacccactcaaaa	5	13	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:17278316C>T	ENST00000224237.5	+	8	1442	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.L433L			P08670	VIME_HUMAN	vimentin	433	Tail.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.L433M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCACTCCCTCTGGTTGATAC	0.353																																																	1	Substitution - Missense(1)	pancreas(1)											149	164	159					10																	17278316		2203	4300	6503	SO:0001819	synonymous_variant	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1297C>T	10.37:g.17278316C>T			B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.L433	ENST00000224237.5	37	c.1297	CCDS7120.1	10																																																																																			VIM	-	NULL		0.353	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	C	NM_003380		17278316	1	no_errors	ENST00000224237	ensembl	human	known	70_37	silent	SNP	1.000	T	T	17278316	C	T	17278316	2	4	185	1	0	0	0	0	0	0	0	1	17197	912	32	1		1	VIM	10	17278316	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	11487680	17278316	118256431	800	35075										
ANKRD26	22852	genome.wustl.edu	37	chr10	27322178	27322178	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttctgatttgacctaatttCttctttaaatcctgtgtctc	4	9	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:27322178C>T	ENST00000376087.4	-	25	3948	c.3783G>A	c.(3781-3783)aaG>aaA	p.K1261K	ANKRD26_ENST00000436985.2_Silent_p.K1277K|ANKRD26_ENST00000376070.3_Silent_p.K818K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1260					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACCTAATTTCTTCTTTAAAT	0.294																																																	0													89	83	84					10																	27322178		1818	4082	5900	SO:0001819	synonymous_variant	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3783G>A	10.37:g.27322178C>T			A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K1277	ENST00000376087.4	37	c.3831	CCDS41499.1	10																																																																																			ANKRD26	-	NULL		0.294	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27322178	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	silent	SNP	0.889	T	T	27322178	C	T	27322178	2	4	185	1	0	0	0	0	0	0	0	1	654	912	32	1		1	ANKRD26	10	27322178	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10043862	27322178	108212569	801	35076										
KIF5B	3799	genome.wustl.edu	37	chr10	32308830	32308830	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttttcctgatctgtggctttCaacttctcatgttctactct	5	11	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:32308830C>G	ENST00000302418.4	-	20	2719	c.2262G>C	c.(2260-2262)ttG>ttC	p.L754F	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	754					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTGTGGCTTTCAACTTCTCAT	0.308			T	"RET, ALK"	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													250	239	243					10																	32308830		2203	4300	6503	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2262G>C	10.37:g.32308830C>G	ENSP00000307078:p.Leu754Phe		A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L754F	ENST00000302418.4	37	c.2262	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635129	0.67130	.	.	ENSG00000170759	ENST00000302418	D	0.84146	-1.81	5.33	0.179	0.15063	.	0.236043	0.37095	N	0.002241	D	0.90584	0.7048	M	0.89287	3.02	0.44899	D	0.997912	D	0.60160	0.987	P	0.61003	0.882	D	0.88906	0.3356	10	0.54805	T	0.06	.	9.8995	0.41340	0.0:0.6583:0.0:0.3417	.	754	P33176	KINH_HUMAN	F	754	ENSP00000307078:L754F	ENSP00000307078:L754F	L	-	3	2	KIF5B	32348836	1.000000	0.71417	0.962000	0.40283	0.979000	0.70002	0.876000	0.28092	-0.018000	0.14079	0.467000	0.42956	TTG	KIF5B	-	NULL		0.308	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	C	NM_004521		32308830	-1	no_errors	ENST00000302418	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32308830	C	G	32308830	3	3	185	1	0	0	0	0	1	0	0	0	8326	825	29	1	653	1	KIF5B	10	32308830	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4986652	32308830	103225917	802	35077										
NRP1	8829	genome.wustl.edu	37	chr10	33545282	33545282	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcaagacactgtagtttgctGagaaaccttcttttgctatc	8	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:33545282G>A	ENST00000265371.4	-	6	1301	c.776C>T	c.(775-777)tCa>tTa	p.S259L	NRP1_ENST00000395995.1_Missense_Mutation_p.S259L|NRP1_ENST00000374875.1_Missense_Mutation_p.S78L|NRP1_ENST00000374867.2_Missense_Mutation_p.S259L|NRP1_ENST00000374822.4_Missense_Mutation_p.S259L|NRP1_ENST00000374821.5_Missense_Mutation_p.S259L|NRP1_ENST00000374823.5_Missense_Mutation_p.S259L|NRP1_ENST00000374816.3_Missense_Mutation_p.S259L|NRP1_ENST00000432372.2_Missense_Mutation_p.S259L			O14786	NRP1_HUMAN	neuropilin 1	259	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTAGTTTGCTGAGAAACCTTC	0.453																																					Melanoma(104;886 1489 44640 45944 51153)												0													132	124	127					10																	33545282		2203	4300	6503	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.776C>T	10.37:g.33545282G>A	ENSP00000265371:p.Ser259Leu		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.S259L	ENST00000265371.4	37	c.776	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647807	0.87958	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818	T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.85	5.85	0.93711	CUB (5);	0.059421	0.64402	D	0.000001	T	0.38957	0.1060	L	0.48218	1.51	0.80722	D	1	D;D;D;P;P;P;D;D;D	0.67145	0.996;0.988;0.996;0.454;0.954;0.914;0.996;0.996;0.991	D;D;D;B;P;P;D;D;P	0.72982	0.973;0.94;0.965;0.256;0.517;0.649;0.979;0.973;0.9	T	0.06373	-1.0830	10	0.87932	D	0	-12.1064	13.3804	0.60764	0.0716:0.0:0.9284:0.0	.	259;259;259;259;259;259;259;78;259	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	L	259;78;259;259;259;259;259;259;78	ENSP00000265371:S259L;ENSP00000364009:S78L;ENSP00000364001:S259L;ENSP00000379317:S259L;ENSP00000363955:S259L;ENSP00000363954:S259L;ENSP00000363956:S259L;ENSP00000363949:S259L	ENSP00000265371:S259L	S	-	2	0	NRP1	33585288	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.661000	0.74422	2.768000	0.95171	0.655000	0.94253	TCA	NRP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB		0.453	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	G			33545282	-1	no_errors	ENST00000265371	ensembl	human	known	70_37	missense	SNP	0.997	A	A	33545282	G	A	33545282	3	1	185	1	0	0	0	0	1	0	0	0	10684	1294	45	1	2058	1	NRP1	10	33545282	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1236452	33545282	101989465	803	35078										
RASSF4	83937	genome.wustl.edu	37	chr10	45477983	45477983	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacaggaagaagggactctGatcatcgaggggctcctcaa	12	11	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:45477983G>A	ENST00000340258.5	+	4	266	c.153G>A	c.(151-153)ctG>ctA	p.L51L	RASSF4_ENST00000334940.6_Silent_p.L33L|RASSF4_ENST00000374417.2_Silent_p.L51L|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGGACTCTGATCATCGAGG	0.632																																																	0													73	84	81					10																	45477983		2203	4300	6503	SO:0001819	synonymous_variant	83937			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.153G>A	10.37:g.45477983G>A			Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.L33	ENST00000340258.5	37	c.99	CCDS7208.1	10																																																																																			RASSF4	-	NULL		0.632	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF4	HGNC	protein_coding	OTTHUMT00000047745.2	G	NM_032023		45477983	1	no_errors	ENST00000334940	ensembl	human	known	70_37	silent	SNP	1.000	A	A	45477983	G	A	45477983	2	1	185	1	0	0	0	0	0	0	0	1	13118	1277	45	1		1	RASSF4	10	45477983	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11932701	45477983	90056764	804	35079										
ALOX5	240	genome.wustl.edu	37	chr10	45938983	45938983	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catgcggggccgcaagtcctCaggtagggcctccgggacgt	16	13	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:45938983C>G	ENST00000374391.2	+	11	1624	c.1571C>G	c.(1570-1572)tCa>tGa	p.S524*	ALOX5_ENST00000542434.1_Nonsense_Mutation_p.S524*|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	524	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CGCAAGTCCTCAGGTAGGGCC	0.701																																																	0													45	44	44					10																	45938983		2203	4300	6503	SO:0001587	stop_gained	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1571C>G	10.37:g.45938983C>G	ENSP00000363512:p.Ser524*		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Nonsense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.S524*	ENST00000374391.2	37	c.1571	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	C	38	7.081264	0.98051	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	.	.	.	5.26	5.26	0.73747	.	0.240105	0.42682	D	0.000662	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.1937	16.4095	0.83703	0.0:1.0:0.0:0.0	.	.	.	.	X	524	.	ENSP00000363512:S524X	S	+	2	0	ALOX5	45258989	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.581000	0.53914	2.735000	0.93741	0.655000	0.94253	TCA	ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C		0.701	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	C			45938983	1	no_errors	ENST00000374391	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	45938983	C	G	45938983	4	3	185	1	0	0	0	0	0	1	0	0	540	838	29	1	1613	1	ALOX5	10	45938983	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	461000	45938983	89595764	805	35080										
MAPK8	5599	genome.wustl.edu	37	chr10	49639240	49639240	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttacttcttttacagaattGatatataaggaagttatgga	7	3	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:49639240G>A	ENST00000374189.1	+	11	1246	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000395611.3_Silent_p.L279L|MAPK8_ENST00000374182.3_Silent_p.L355L|MAPK8_ENST00000360332.3_Silent_p.L355L			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	355					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTACAGAATTGATATATAAGG	0.363																																																	0													60	63	62					10																	49639240		2203	4300	6503	SO:0001819	synonymous_variant	5599			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.1065G>A	10.37:g.49639240G>A			B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.L355	ENST00000374189.1	37	c.1065	CCDS7224.1	10																																																																																			MAPK8	-	superfamily_Kinase-like_dom		0.363	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	G			49639240	1	no_errors	ENST00000360332	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49639240	G	A	49639240	2	1	185	1	0	0	0	0	0	0	0	1	9306	1281	45	1		1	MAPK8	10	49639240	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3700257	49639240	85895507	806	35081										
ERCC6	2074	genome.wustl.edu	37	chr10	50678926	50678926	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atttgggtgtctgaacatctGatccagttcctgtaaagagg	11	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:50678926G>C	ENST00000355832.5	-	18	3158	c.3080C>G	c.(3079-3081)tCa>tGa	p.S1027*	ERCC6_ENST00000542458.1_Nonsense_Mutation_p.S397*|ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1027					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGAACATCTGATCCAGTTCC	0.363								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													113	117	116					10																	50678926		2203	4300	6503	SO:0001587	stop_gained	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3080C>G	10.37:g.50678926G>C	ENSP00000348089:p.Ser1027*		D3DX94|Q5W0L9	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1027*	ENST00000355832.5	37	c.3080	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.736793	0.98935	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-13.7174	18.5659	0.91116	0.0:0.0:1.0:0.0	.	.	.	.	X	1027;404;397	.	ENSP00000348089:S1027X	S	-	2	0	ERCC6	50348932	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	6.627000	0.74258	2.825000	0.97269	0.655000	0.94253	TCA	ERCC6	-	NULL		0.363	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	G	NM_000124		50678926	-1	no_errors	ENST00000355832	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	50678926	G	C	50678926	4	2	185	1	0	0	0	0	0	1	0	0	5229	1294	45	1	1417	1	ERCC6	10	50678926	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1039686	50678926	84855821	807	35082										
ZWINT	11130	genome.wustl.edu	37	chr10	58118402	58118402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgctggggtttatcatctGgaagattctctgcctcagcc	11	11	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:58118402G>A	ENST00000373944.3	-	7	745	c.707C>T	c.(706-708)cCa>cTa	p.P236L	ZWINT_ENST00000395405.1_Missense_Mutation_p.P236L|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000361148.6_Missense_Mutation_p.P189L|ZWINT_ENST00000318387.2_Missense_Mutation_p.P116L			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	236					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TTTATCATCTGGAAGATTCTC	0.532																																																	0													58	57	57					10																	58118402		2203	4300	6503	SO:0001583	missense	11130			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.707C>T	10.37:g.58118402G>A	ENSP00000363055:p.Pro236Leu		A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	NULL	p.P236L	ENST00000373944.3	37	c.707	CCDS7249.1	10	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605984	0.46527	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	3.85	0.982	0.19762	.	0.000000	0.41500	D	0.000865	T	0.33904	0.0879	L	0.27053	0.805	0.09310	N	1	B;B	0.20052	0.041;0.041	B;B	0.17722	0.019;0.019	T	0.24835	-1.0149	10	0.72032	D	0.01	-29.5886	5.8042	0.18430	0.3412:0.0:0.6588:0.0	.	189;236	A6NNV6;O95229	.;ZWINT_HUMAN	L	236;236;116;189	ENSP00000363055:P236L;ENSP00000378801:P236L;ENSP00000322850:P116L;ENSP00000354921:P189L	ENSP00000322850:P116L	P	-	2	0	ZWINT	57788408	0.000000	0.05858	0.010000	0.14722	0.015000	0.08874	-0.301000	0.08232	0.223000	0.20920	0.563000	0.77884	CCA	ZWINT	-	NULL		0.532	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZWINT	HGNC	protein_coding	OTTHUMT00000048132.1	G			58118402	-1	no_errors	ENST00000373944	ensembl	human	known	70_37	missense	SNP	0.013	A	A	58118402	G	A	58118402	3	1	185	1	0	0	0	0	1	0	0	0	18279	1348	47	4	134	4	ZWINT	10	58118402	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7439476	58118402	77416345	808	35083										
RTKN2	219790	genome.wustl.edu	37	chr10	64028352	64028352	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggcggagcgcaggacccctCaggctcggcccctccatctc	12	18	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:64028352C>T	ENST00000373789.3	-	1	114	c.18G>A	c.(16-18)ctG>ctA	p.L6L	RTKN2_ENST00000395260.3_Silent_p.L6L|RTKN2_ENST00000395265.1_Silent_p.L6L	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	6					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CAGGACCCCTCAGGCTCGGCC	0.682																																																	0													10	12	11					10																	64028352		2164	4216	6380	SO:0001819	synonymous_variant	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.18G>A	10.37:g.64028352C>T			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L6	ENST00000373789.3	37	c.18	CCDS7263.1	10																																																																																			RTKN2	-	NULL		0.682	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	C	NM_145307		64028352	-1	no_errors	ENST00000373789	ensembl	human	known	70_37	silent	SNP	0.000	T	T	64028352	C	T	64028352	2	4	185	1	0	0	0	0	0	0	0	1	13753	813	29	1		1	RTKN2	10	64028352	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5909950	64028352	71506395	809	35084										
JMJD1C	221037	genome.wustl.edu	37	chr10	64975041	64975041	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acctcctcgtgatatataatCatatttttcctccttcatct	2	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:64975041C>T	ENST00000399262.2	-	7	1215	c.997G>A	c.(997-999)Gat>Aat	p.D333N	JMJD1C_ENST00000399251.1_Missense_Mutation_p.D114N|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D151N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D114N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	333					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATATATAATCATATTTTTCC	0.328																																																	0													184	160	168					10																	64975041		1833	4091	5924	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.997G>A	10.37:g.64975041C>T	ENSP00000382204:p.Asp333Asn		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.D333N	ENST00000399262.2	37	c.997	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547941	0.65311	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.6	5.6	0.85130	.	0.186360	0.34531	U	0.003899	T	0.33440	0.0863	L	0.57536	1.79	0.48040	D	0.999579	D;D	0.67145	0.995;0.996	P;P	0.60609	0.797;0.877	T	0.01084	-1.1457	10	0.62326	D	0.03	-9.1172	19.6107	0.95606	0.0:1.0:0.0:0.0	.	333;151	Q15652;A0T124	JHD2C_HUMAN;.	N	333;114;114;151	ENSP00000382204:D333N;ENSP00000384990:D114N;ENSP00000382195:D114N;ENSP00000444682:D151N	ENSP00000382195:D114N	D	-	1	0	JMJD1C	64645047	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	2.956000	0.49129	2.648000	0.89879	0.655000	0.94253	GAT	JMJD1C	-	NULL		0.328	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	C	NM_004241		64975041	-1	no_errors	ENST00000399262	ensembl	human	known	70_37	missense	SNP	0.999	T	T	64975041	C	T	64975041	3	4	185	1	0	0	0	0	1	0	0	0	7970	826	29	1	6705	1	JMJD1C	10	64975041	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	946689	64975041	70559706	810	35085										
LRRTM3	347731	genome.wustl.edu	37	chr10	68686978	68686978	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accatatcagcaatattgacGaaaatgcttttaatggaata	6	6	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:68686978G>C	ENST00000361320.4	+	2	882	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	102					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAATATTGACGAAAATGCTTT	0.358																																																	0													99	103	102					10																	68686978		2203	4300	6503	SO:0001583	missense	347731			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.304G>C	10.37:g.68686978G>C	ENSP00000355187:p.Glu102Gln		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E102Q	ENST00000361320.4	37	c.304	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117590	0.37339	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.04502	3.61	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000004	T	0.11836	0.0288	L	0.35341	1.055	0.52501	D	0.99995	D;P	0.52996	0.957;0.947	P;P	0.59948	0.832;0.866	T	0.22382	-1.0218	10	0.27785	T	0.31	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	102;102	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	Q	102	ENSP00000355187:E102Q	ENSP00000355187:E102Q	E	+	1	0	LRRTM3	68356984	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.682000	0.84083	2.543000	0.85770	0.655000	0.94253	GAA	LRRTM3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.358	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	G	NM_178011		68686978	1	no_errors	ENST00000361320	ensembl	human	known	70_37	missense	SNP	1.000	C	C	68686978	G	C	68686978	3	2	185	1	0	0	0	0	1	0	0	0	9064	1059	37	1	310	1	LRRTM3	10	68686978	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3711937	68686978	66847769	811	35086										
SUPV3L1	6832	genome.wustl.edu	37	chr10	70968732	70968732	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacacaacaaagaaaaaacaGagtctgggactcatccaaaa	6	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:70968732G>A	ENST00000359655.4	+	15	2362	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	768	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAAAAAACAGAGTCTGGGAC	0.388																																																	0													64	63	64					10																	70968732		2203	4300	6503	SO:0001583	missense	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2302G>A	10.37:g.70968732G>A	ENSP00000352678:p.Glu768Lys		A8K301|O43630	Missense_Mutation	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.E768K	ENST00000359655.4	37	c.2302	CCDS7287.1	10	.	.	.	.	.	.	.	.	.	.	G	4.046	0.006220	0.07866	.	.	ENSG00000156502	ENST00000359655	T	0.32272	1.46	5.53	4.59	0.56863	.	0.557599	0.19131	N	0.121934	T	0.22244	0.0536	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.10660	-1.0620	10	0.16420	T	0.52	-8.0292	10.5209	0.44918	0.071:0.3501:0.5789:0.0	.	768	Q8IYB8	SUV3_HUMAN	K	768	ENSP00000352678:E768K	ENSP00000352678:E768K	E	+	1	0	SUPV3L1	70638738	0.002000	0.14202	0.010000	0.14722	0.003000	0.03518	0.941000	0.29005	2.592000	0.87571	0.650000	0.86243	GAG	SUPV3L1	-	NULL		0.388	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	G	NM_003171		70968732	1	no_errors	ENST00000359655	ensembl	human	known	70_37	missense	SNP	0.003	A	A	70968732	G	A	70968732	3	1	185	1	0	0	0	0	1	0	0	0	15432	943	33	1	2360	1	SUPV3L1	10	70968732	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2281754	70968732	64566015	812	35087										
SLC29A3	55315	genome.wustl.edu	37	chr10	73122362	73122362	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accctcctggtgcacctcatCtagaagggaggacacaagga	11	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:73122362C>G	ENST00000373189.5	+	6	1477	c.1425C>G	c.(1423-1425)atC>atG	p.I475M		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	475					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGCACCTCATCTAGAAGGGAG	0.557																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												0													81	59	66					10																	73122362		2203	4300	6503	SO:0001583	missense	55315			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.1425C>G	10.37:g.73122362C>G	ENSP00000362285:p.Ile475Met		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.I475M	ENST00000373189.5	37	c.1425	CCDS7310.1	10	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482586	0.44147	.	.	ENSG00000198246	ENST00000373189	T	0.61742	0.08	5.47	4.56	0.56223	.	0.058758	0.64402	D	0.000002	T	0.66557	0.2801	M	0.83012	2.62	0.45930	D	0.998760	D	0.55800	0.973	P	0.52189	0.692	T	0.78565	-0.2155	9	0.87932	D	0	.	7.4981	0.27500	0.1221:0.6897:0.1186:0.0696	.	475	Q9BZD2	S29A3_HUMAN	M	475	ENSP00000362285:I475M	ENSP00000362285:I475M	I	+	3	3	SLC29A3	72792368	0.997000	0.39634	1.000000	0.80357	0.403000	0.30841	0.552000	0.23376	2.588000	0.87417	0.655000	0.94253	ATC	SLC29A3	-	NULL		0.557	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1	C	NM_018344		73122362	1	no_errors	ENST00000373189	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73122362	C	G	73122362	3	3	185	1	0	0	0	0	1	0	0	0	14566	903	32	1	1451	1	SLC29A3	10	73122362	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2153630	73122362	62412385	813	35088										
PSAP	5660	genome.wustl.edu	37	chr10	73580086	73580086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcagactttgctgggacctCgtgcttctgtggaaagagta	12	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:73580086C>T	ENST00000394936.3	-	9	1063	c.916G>A	c.(916-918)Gag>Aag	p.E306K	PSAP_ENST00000394934.1_Missense_Mutation_p.E308K			P07602	SAP_HUMAN	prosaposin	306					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCTGGGACCTCGTGCTTCTGT	0.502																																																	0													211	183	192					10																	73580086		2203	4300	6503	SO:0001583	missense	5660			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.916G>A	10.37:g.73580086C>T	ENSP00000378394:p.Glu306Lys		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB	p.E306K	ENST00000394936.3	37	c.916	CCDS7311.1	10	.	.	.	.	.	.	.	.	.	.	C	5.215	0.225096	0.09916	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.90004	-2.6;-2.6	5.45	-9.47	0.00594	.	1.900830	0.01988	N	0.045334	T	0.73210	0.3558	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.65973	-0.6038	10	0.06494	T	0.89	-12.6495	4.0866	0.09950	0.0926:0.3223:0.1252:0.4599	.	306	P07602	SAP_HUMAN	K	306;306;309;308;312;232	ENSP00000378394:E306K;ENSP00000378392:E308K	ENSP00000350063:E309K	E	-	1	0	PSAP	73250092	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.779000	0.01777	-0.905000	0.03871	-1.224000	0.01588	GAG	PSAP	-	pirsf_Saposin_chordata		0.502	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSAP	HGNC	protein_coding	OTTHUMT00000048553.1	C	NM_002778		73580086	-1	no_errors	ENST00000373120	ensembl	human	known	70_37	missense	SNP	0.000	T	T	73580086	C	T	73580086	3	4	185	1	0	0	0	0	1	0	0	0	12670	893	31	1	682	1	PSAP	10	73580086	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	457724	73580086	61954661	814	35089										
USP54	159195	genome.wustl.edu	37	chr10	75277418	75277418	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caggaagcaggtgaatggaaGaaagaactggccccaaactc	12	9	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75277418G>T	ENST00000339859.4	-	19	2866	c.2766C>A	c.(2764-2766)ttC>ttA	p.F922L	RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.F772L|USP54_ENST00000408019.1_Missense_Mutation_p.F922L|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.F10L|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.F104L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	922					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTGAATGGAAGAAAGAACTGG	0.512																																					Colon(195;880 2046 8854 25025 38456)												0													57	57	57					10																	75277418		2203	4300	6503	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2766C>A	10.37:g.75277418G>T	ENSP00000345216:p.Phe922Leu		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F922L	ENST00000339859.4	37	c.2766	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045373	0.36085	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.39406	1.69;1.69;1.67;1.08;1.56	5.78	0.633	0.17712	.	0.173317	0.36854	U	0.002377	T	0.29423	0.0733	L	0.49350	1.555	0.58432	D	0.999998	B;B	0.19583	0.037;0.001	B;B	0.19148	0.024;0.002	T	0.06552	-1.0820	10	0.41790	T	0.15	-1.9455	2.7796	0.05357	0.1254:0.2275:0.4123:0.2348	.	104;922	E7EW90;Q70EL1	.;UBP54_HUMAN	L	922;922;772;10;104	ENSP00000345216:F922L;ENSP00000386080:F922L;ENSP00000408714:F772L;ENSP00000378290:F10L;ENSP00000407368:F104L	ENSP00000345216:F922L	F	-	3	2	USP54	74947424	0.998000	0.40836	0.092000	0.20876	0.887000	0.51463	1.804000	0.38873	-0.123000	0.11745	-0.172000	0.13284	TTC	USP54	-	NULL		0.512	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	G	NM_152586		75277418	-1	no_errors	ENST00000339859	ensembl	human	known	70_37	missense	SNP	0.784	T	T	75277418	G	T	75277418	3	4	185	1	0	0	0	0	1	0	0	0	17116	933	33	3	2308	3	USP54	10	75277418	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1697332	75277418	60257329	815	35090										
AGAP5	729092	genome.wustl.edu	37	chr10	75434741	75434741	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caccgttccttctcttccctCgtggactttactgagggttt	8	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75434741C>G	ENST00000374094.4	-	8	1717	c.1677G>C	c.(1675-1677)acG>acC	p.T559T	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000443782.2_Silent_p.T536T|RP11-464F9.21_ENST00000607450.1_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	559	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TCTCTTCCCTCGTGGACTTTA	0.547																																																	0													6	15	12					10																	75434741		360	919	1279	SO:0001819	synonymous_variant	729092				CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23467	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 2"	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.1677G>C	10.37:g.75434741C>G			A8MSN5	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.T559	ENST00000374094.4	37	c.1677	CCDS44439.1	10																																																																																			AGAP5	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP		0.547	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGAP5	HGNC	protein_coding		C	XM_001132585		75434741	-1	no_errors	ENST00000374094	ensembl	human	known	70_37	silent	SNP	0.989	G	G	75434741	C	G	75434741	2	3	185	1	0	0	0	0	0	0	0	1	371	871	31	1		1	AGAP5	10	75434741	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	157323	75434741	60100006	816	35091										
AGAP5	729092	genome.wustl.edu	37	chr10	75434831	75434831	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaatagatgacataaccttCctgagctcaactggccagtc	7	13	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75434831C>T	ENST00000374094.4	-	8	1627	c.1587G>A	c.(1585-1587)agG>agA	p.R529R	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000443782.2_Silent_p.R506R|RP11-464F9.21_ENST00000607450.1_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	529	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ACATAACCTTCCTGAGCTCAA	0.537																																																	0													1	1	1					10																	75434831		6	35	41	SO:0001819	synonymous_variant	729092				CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23467	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 2"	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.1587G>A	10.37:g.75434831C>T			A8MSN5	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R529	ENST00000374094.4	37	c.1587	CCDS44439.1	10																																																																																			AGAP5	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.537	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGAP5	HGNC	protein_coding		C	XM_001132585		75434831	-1	no_errors	ENST00000374094	ensembl	human	known	70_37	silent	SNP	0.921	T	T	75434831	C	T	75434831	2	4	185	1	0	0	0	0	0	0	0	1	371	854	30	1		1	AGAP5	10	75434831	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	90	75434831	60099916	817	35092										
SEC24C	9632	genome.wustl.edu	37	chr10	75529389	75529389	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagcatatcggggagtcctGaatagccctgtgaaggctgt	13	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75529389G>T	ENST00000339365.2	+	20	2742	c.2580G>T	c.(2578-2580)ctG>ctT	p.L860L	SEC24C_ENST00000535742.1_Silent_p.L108L|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000345254.4_Silent_p.L860L|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Silent_p.L741L|SEC24C_ENST00000540668.1_Silent_p.L108L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	860					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGGGAGTCCTGAATAGCCCTG	0.542																																																	0													95	84	88					10																	75529389		2203	4300	6503	SO:0001819	synonymous_variant	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2580G>T	10.37:g.75529389G>T			B4DZT4|Q8WV25	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.L860	ENST00000339365.2	37	c.2580	CCDS7332.1	10																																																																																			SEC24C	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom		0.542	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	G			75529389	1	no_errors	ENST00000339365	ensembl	human	known	70_37	silent	SNP	0.150	T	T	75529389	G	T	75529389	2	4	185	1	0	0	0	0	0	0	0	1	14026	1277	45	3		3	SEC24C	10	75529389	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	94558	75529389	60005358	818	35093										
KIAA0913	23053	genome.wustl.edu	37	chr10	75554361	75554361	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acagcgagacacctggggatGaggagcttggatttgaagca	15	7	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75554361G>A	ENST00000605216.1	+	14	3074	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E953K|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.E958K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.E920K|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.E958K|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000431225.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	953							zinc ion binding (GO:0008270)										ACCTGGGGATGAGGAGCTTGG	0.527																																																	0													37	38	37					10																	75554361		1973	4124	6097	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2857G>A	10.37:g.75554361G>A	ENSP00000474748:p.Glu953Lys		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.E958K	ENST00000605216.1	37	c.2872		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.523599|5.523599	0.96431|0.96431	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000431225;ENST00000412198;ENST00000425051	T|.	0.52983|.	0.64|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.82226|0.82226	0.4991|0.4991	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.67145|.	0.996;0.996;0.996;0.996|.	D;D;D;D|.	0.76071|.	0.987;0.987;0.987;0.987|.	T|T	0.81286|0.81286	-0.1001|-0.1001	10|5	0.87932|.	D|.	0|.	-8.9435|-8.9435	20.3248|20.3248	0.98698|0.98698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	953;958;953;958|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	K|I	958|449;227;131	ENSP00000381693:E958K|.	ENSP00000381693:E958K|.	E|M	+|+	1|3	0|0	KIAA0913|KIAA0913	75224367|75224367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.759000|9.759000	0.98931|0.98931	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GAG|ATG	ZSWIM8	-	NULL		0.527	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	G	NM_001242487		75554361	1	no_errors	ENST00000398706	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75554361	G	A	75554361	3	1	185	1	0	0	0	0	1	0	0	0	8220	1291	45	1	2926	1	KIAA0913	10	75554361	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	24972	75554361	59980386	819	35094										
NDST2	8509	genome.wustl.edu	37	chr10	75562434	75562434	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcccctggctttacttacctCagtgtccatatctggatacc	7	14	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:75562434C>T	ENST00000309979.6	-	14	3080	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8-AS1_ENST00000456638.2_RNA|NDST2_ENST00000299641.4_Missense_Mutation_p.E719K			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	842	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TTACTTACCTCAGTGTCCATA	0.502																																																	0													69	69	69					10																	75562434		2203	4300	6503	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2524G>A	10.37:g.75562434C>T	ENSP00000310657:p.Glu842Lys		Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.E842K	ENST00000309979.6	37	c.2524	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987328	0.35036	.	.	ENSG00000166507	ENST00000309979;ENST00000299641;ENST00000429742	T;T;T	0.56444	0.46;0.46;0.46	6.07	4.2	0.49525	Sulfotransferase domain (1);	0.337643	0.34088	N	0.004272	T	0.38772	0.1053	L	0.38649	1.16	0.36531	D	0.870729	B	0.19445	0.036	B	0.27170	0.077	T	0.32903	-0.9889	10	0.27082	T	0.32	.	4.9341	0.13932	0.2531:0.562:0.1105:0.0744	.	842	P52849	NDST2_HUMAN	K	842;719;123	ENSP00000310657:E842K;ENSP00000299641:E719K;ENSP00000392733:E123K	ENSP00000299641:E719K	E	-	1	0	NDST2	75232440	0.998000	0.40836	0.955000	0.39395	0.976000	0.68499	2.009000	0.40903	0.871000	0.35750	0.655000	0.94253	GAG	NDST2	-	pfam_Sulfotransferase_dom		0.502	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	C	NM_003635		75562434	-1	no_errors	ENST00000309979	ensembl	human	known	70_37	missense	SNP	0.814	T	T	75562434	C	T	75562434	3	4	185	1	0	0	0	0	1	0	0	0	10280	835	29	1	135	1	NDST2	10	75562434	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	8073	75562434	59972313	820	35095										
DLG5	9231	genome.wustl.edu	37	chr10	79552246	79552246	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actttattttgttcttgattGaccattgccaagatctgagt	7	7	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:79552246G>A	ENST00000372391.2	-	32	5717	c.5712C>T	c.(5710-5712)gtC>gtT	p.V1904V	RP13-39P12.3_ENST00000601701.1_RNA|RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000372388.2_Silent_p.V1564V|DLG5_ENST00000459739.1_5'Flank	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1904	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTTCTTGATTGACCATTGCCA	0.542																																																	0													121	120	120					10																	79552246		2203	4300	6503	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5712C>T	10.37:g.79552246G>A			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.V1904	ENST00000372391.2	37	c.5712	CCDS7353.2	10																																																																																			DLG5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.542	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	G			79552246	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	silent	SNP	0.985	A	A	79552246	G	A	79552246	2	1	185	1	0	0	0	0	0	0	0	1	4568	1277	45	1		1	DLG5	10	79552246	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3989812	79552246	55982501	821	35096										
ANXA11	311	genome.wustl.edu	37	chr10	81923365	81923365	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcctcttccagggtctttttGaattctgaaagggagaagca	11	8	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:81923365G>C	ENST00000438331.1	-	11	1436	c.954C>G	c.(952-954)ttC>ttG	p.F318L	ANXA11_ENST00000535999.1_Missense_Mutation_p.F318L|ANXA11_ENST00000422982.3_Missense_Mutation_p.F318L|ANXA11_ENST00000537102.1_Missense_Mutation_p.F285L|ANXA11_ENST00000265447.4_Missense_Mutation_p.F318L|ANXA11_ENST00000372231.3_Missense_Mutation_p.F318L|ANXA11_ENST00000360615.4_Missense_Mutation_p.F318L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	318					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			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)			GGGTCTTTTTGAATTCTGAAA	0.507																																																	0													34	35	35					10																	81923365		2184	4268	6452	SO:0001583	missense	311			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.954C>G	10.37:g.81923365G>C	ENSP00000398610:p.Phe318Leu		B4DVE7	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII	p.F318L	ENST00000438331.1	37	c.954	CCDS7364.1	10	.	.	.	.	.	.	.	.	.	.	.	17.88	3.497718	0.64186	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89;3.89;3.89	5.43	5.43	0.79202	Annexin repeat, conserved site (1);	0.241847	0.43416	D	0.000563	T	0.06600	0.0169	L	0.45581	1.43	0.35783	D	0.82176	P;P;P	0.38551	0.636;0.514;0.514	B;B;B	0.44044	0.439;0.183;0.183	T	0.11743	-1.0575	10	0.59425	D	0.04	.	10.5406	0.45031	0.0881:0.0:0.9119:0.0	.	418;318;318	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	L	318;318;318;318;318;318;318;225;285	ENSP00000361305:F318L;ENSP00000404412:F318L;ENSP00000398610:F318L;ENSP00000353827:F318L;ENSP00000265447:F318L;ENSP00000441748:F318L;ENSP00000441400:F285L	ENSP00000265447:F318L	F	-	3	2	ANXA11	81913345	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.927000	0.40094	2.724000	0.93272	0.655000	0.94253	TTC	ANXA11	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat		0.507	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	G	NM_145869		81923365	-1	no_errors	ENST00000265447	ensembl	human	known	70_37	missense	SNP	1.000	C	C	81923365	G	C	81923365	3	2	185	1	0	0	0	0	1	0	0	0	716	1281	45	1	591	1	ANXA11	10	81923365	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2371119	81923365	53611382	822	35097										
IFIT1B	439996	genome.wustl.edu	37	chr10	91143935	91143935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacttctgccttcctgcatCaccaaatggggctttgctac	7	15	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:91143935C>T	ENST00000371809.3	+	2	945	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	289										endometrium(2)|large_intestine(3)|lung(8)	13						CTTCCTGCATCACCAAATGGG	0.463																																																	0													102	104	104					10																	91143935		2203	4300	6503	SO:0001583	missense	439996				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.865C>T	10.37:g.91143935C>T	ENSP00000360874:p.His289Tyr		A7E245	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H289Y	ENST00000371809.3	37	c.865	CCDS31242.1	10	.	.	.	.	.	.	.	.	.	.	C	7.918	0.737869	0.15574	.	.	ENSG00000204010	ENST00000371809	T	0.34667	1.35	4.16	3.24	0.37175	Tetratricopeptide-like helical (1);	0.476732	0.22318	N	0.061643	T	0.31295	0.0792	M	0.62088	1.915	0.33769	D	0.622873	B	0.19200	0.034	B	0.20384	0.029	T	0.35773	-0.9775	10	0.09843	T	0.71	.	10.1651	0.42875	0.0:0.9004:0.0:0.0996	.	289	Q5T764	IFT1B_HUMAN	Y	289	ENSP00000360874:H289Y	ENSP00000360874:H289Y	H	+	1	0	IFIT1B	91133915	0.994000	0.37717	1.000000	0.80357	0.476000	0.33039	0.503000	0.22610	0.920000	0.36970	0.557000	0.71058	CAC	IFIT1B	-	NULL		0.463	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1B	HGNC	protein_coding	OTTHUMT00000049296.3	C	NM_001010987		91143935	1	no_errors	ENST00000371809	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91143935	C	T	91143935	3	4	185	1	0	0	0	0	1	0	0	0	7542	826	29	1	871	1	IFIT1B	10	91143935	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	9220570	91143935	44390812	823	35098										
EXOC6	54536	genome.wustl.edu	37	chr10	94818001	94818001	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgaaggatactagcaaaaaGaacaatatatttgctcagtt	7	5	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:94818001G>C	ENST00000260762.6	+	22	2318	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	RP11-348J12.2_ENST00000444965.1_RNA|EXOC6_ENST00000371552.4_Missense_Mutation_p.K763N|EXOC6_ENST00000443748.2_Missense_Mutation_p.K665N|EXOC6_ENST00000371547.4_Missense_Mutation_p.K784N	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	768					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CTAGCAAAAAGAACAATATAT	0.363																																																	0													96	93	94					10																	94818001		2203	4300	6503	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2304G>C	10.37:g.94818001G>C	ENSP00000260762:p.Lys768Asn		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.K784N	ENST00000260762.6	37	c.2352	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134277	0.77662	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.35789	1.67;1.69;1.29;1.69	5.95	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.77820	2.39	0.80722	D	1	D;B;D;P;D;D	0.67145	0.97;0.138;0.992;0.902;0.996;0.992	P;B;D;P;D;D	0.65684	0.791;0.131;0.937;0.829;0.937;0.909	T	0.65352	-0.6189	10	0.62326	D	0.03	-12.8345	15.1426	0.72623	0.0675:0.0:0.9325:0.0	.	784;665;760;721;768;763	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	N	784;763;665;768	ENSP00000360602:K784N;ENSP00000360607:K763N;ENSP00000396206:K665N;ENSP00000260762:K768N	ENSP00000260762:K768N	K	+	3	2	EXOC6	94807991	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.022000	0.88759	1.532000	0.49169	0.655000	0.94253	AAG	EXOC6	-	pirsf_Sec15		0.363	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	G	NM_019053		94818001	1	no_errors	ENST00000371547	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94818001	G	C	94818001	3	2	185	1	0	0	0	0	1	0	0	0	5320	933	33	1	2480	1	EXOC6	10	94818001	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3674066	94818001	40716746	824	35099										
CEP55	55165	genome.wustl.edu	37	chr10	95262912	95262912	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaaggagaagaatgcttatCaactcacagagaaggacaaa	10	6	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:95262912C>G	ENST00000371485.3	+	3	530	c.226C>G	c.(226-228)Caa>Gaa	p.Q76E		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	76					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAATGCTTATCAACTCACAGA	0.413																																																	0													97	89	92					10																	95262912		2203	4300	6503	SO:0001583	missense	55165			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.226C>G	10.37:g.95262912C>G	ENSP00000360540:p.Gln76Glu		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	pfam_EABR	p.Q76E	ENST00000371485.3	37	c.226	CCDS7428.1	10	.	.	.	.	.	.	.	.	.	.	C	8.484	0.860394	0.17178	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.18174	2.23	5.28	1.87	0.25490	.	0.476168	0.25458	N	0.030533	T	0.10294	0.0252	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.28106	-1.0054	10	0.28530	T	0.3	1.7936	4.2366	0.10628	0.1514:0.5433:0.0:0.3052	.	76	Q53EZ4	CEP55_HUMAN	E	76	ENSP00000360540:Q76E	ENSP00000351102:Q76E	Q	+	1	0	CEP55	95252902	0.001000	0.12720	0.144000	0.22314	0.958000	0.62258	0.316000	0.19469	0.142000	0.18901	0.591000	0.81541	CAA	CEP55	-	NULL		0.413	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP55	HGNC	protein_coding	OTTHUMT00000049434.1	C	NM_018131		95262912	1	no_errors	ENST00000371485	ensembl	human	known	70_37	missense	SNP	0.029	G	G	95262912	C	G	95262912	3	3	185	1	0	0	0	0	1	0	0	0	3260	827	29	1	232	1	CEP55	10	95262912	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	444911	95262912	40271835	825	35100										
SORBS1	10580	genome.wustl.edu	37	chr10	97154431	97154431	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggagtgtaaggattgtcctCtgtagcagagaaaagcagtg	15	5	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:97154431C>T	ENST00000361941.3	-	13	1324		c.e13-1		SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371247.2_Splice_Site|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000347291.4_Splice_Site|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371227.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371241.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGATTGTCCTCTGTAGCAGAG	0.413																																																	0													132	125	128					10																	97154431		2203	4300	6503	SO:0001630	splice_region_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1298-1G>A	10.37:g.97154431C>T				Splice_Site	SNP	-	e13-1	ENST00000361941.3	37	c.1298-1	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089150	0.76756	.	.	ENSG00000095637	ENST00000371247;ENST00000347291;ENST00000361941	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORBS1	97144421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.882000	0.98803	0.655000	0.94253	.	SORBS1	-	-		0.413	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C		Intron	97154431	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	97154431	C	T	97154431	5	4	185	1	0	0	0	0	0	0	1	0	14957	927	32	1	2854	1	SORBS1	10	97154431	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1891519	97154431	38380316	826	35101										
ALDH18A1	5832	genome.wustl.edu	37	chr10	97373741	97373741	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acctagcctggtgaccttatCaacactggcctcggaatcca	8	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:97373741C>G	ENST00000371224.2	-	14	1920	c.1783G>C	c.(1783-1785)Gat>Cat	p.D595H	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.D593H	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	595	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		GTGACCTTATCAACACTGGCC	0.498																																																	0													141	138	139					10																	97373741		2203	4300	6503	SO:0001583	missense	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1783G>C	10.37:g.97373741C>G	ENSP00000360268:p.Asp595His		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.D595H	ENST00000371224.2	37	c.1783	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061850	0.36373	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.75154	-0.91;-0.91	5.83	5.83	0.93111	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);	0.041871	0.85682	D	0.000000	T	0.79947	0.4534	M	0.86343	2.81	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.18871	0.023;0.013	T	0.77645	-0.2510	10	0.87932	D	0	-17.0174	17.6123	0.88058	0.0:1.0:0.0:0.0	.	595;593	P54886;P54886-2	P5CS_HUMAN;.	H	595;593	ENSP00000360268:D595H;ENSP00000360265:D593H	ENSP00000360265:D593H	D	-	1	0	ALDH18A1	97363731	1.000000	0.71417	0.850000	0.33497	0.172000	0.22775	7.301000	0.78850	2.769000	0.95229	0.655000	0.94253	GAT	ALDH18A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase		0.498	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	C	NM_002860		97373741	-1	no_errors	ENST00000371224	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97373741	C	G	97373741	3	3	185	1	0	0	0	0	1	0	0	0	489	826	29	1	624	1	ALDH18A1	10	97373741	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	219310	97373741	38161006	827	35102										
PYROXD2	84795	genome.wustl.edu	37	chr10	100152754	100152754	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgagcttgcgatcgcatcaGagagggcacccatgcccccc	11	16	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:100152754G>C	ENST00000370575.4	-	9	920	c.872C>G	c.(871-873)tCt>tGt	p.S291C	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	291							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GATCGCATCAGAGAGGGCACC	0.592																																																	0													95	86	89					10																	100152754		2203	4300	6503	SO:0001583	missense	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.872C>G	10.37:g.100152754G>C	ENSP00000359607:p.Ser291Cys		D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.S291C	ENST00000370575.4	37	c.872	CCDS7474.1	10	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407691	0.83340	.	.	ENSG00000119943	ENST00000370575	T	0.60548	0.18	5.58	4.66	0.58398	.	0.219940	0.49305	N	0.000150	T	0.65333	0.2681	M	0.91717	3.235	0.58432	D	0.999999	P	0.37781	0.608	B	0.34346	0.18	T	0.73560	-0.3944	10	0.87932	D	0	-29.141	14.3918	0.66983	0.0:0.1477:0.8523:0.0	.	291	Q8N2H3	PYRD2_HUMAN	C	291	ENSP00000359607:S291C	ENSP00000359607:S291C	S	-	2	0	PYROXD2	100142744	1.000000	0.71417	0.928000	0.36995	0.969000	0.65631	9.277000	0.95755	1.326000	0.45319	0.655000	0.94253	TCT	PYROXD2	-	NULL		0.592	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	G	NM_032709		100152754	-1	no_errors	ENST00000370575	ensembl	human	known	70_37	missense	SNP	0.999	C	C	100152754	G	C	100152754	3	2	185	1	0	0	0	0	1	0	0	0	12897	942	33	1	905	1	PYROXD2	10	100152754	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2779013	100152754	35381993	828	35103										
DNMBP	23268	genome.wustl.edu	37	chr10	101645515	101645515	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaatggcttcttggtagctgGaagagactccgggaagaagg	15	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:101645515G>C	ENST00000324109.4	-	14	3818	c.3727C>G	c.(3727-3729)Cca>Gca	p.P1243A	DNMBP_ENST00000472036.1_5'Flank|DNMBP_ENST00000342239.3_Missense_Mutation_p.P1267A|DNMBP_ENST00000540316.1_Missense_Mutation_p.P179A|DNMBP_ENST00000543621.1_Missense_Mutation_p.P489A	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1243					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTGGTAGCTGGAAGAGACTCC	0.542																																																	0													36	33	34					10																	101645515		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3727C>G	10.37:g.101645515G>C	ENSP00000315659:p.Pro1243Ala		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.P1267A	ENST00000324109.4	37	c.3799	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	8.295	0.818559	0.16607	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.47	5.47	0.80525	.	0.000000	0.45867	D	0.000340	T	0.29288	0.0729	L	0.36672	1.1	0.47245	D	0.999369	B;B;B	0.34255	0.445;0.013;0.445	B;B;B	0.27170	0.077;0.014;0.077	T	0.08534	-1.0717	10	0.08599	T	0.76	-13.9469	15.2016	0.73142	0.0:0.1814:0.8186:0.0	.	1243;489;1267	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	A	1267;1243;489;489;179	ENSP00000344914:P1267A;ENSP00000315659:P1243A;ENSP00000443657:P489A;ENSP00000443573:P179A	ENSP00000315659:P1243A	P	-	1	0	DNMBP	101635505	1.000000	0.71417	0.099000	0.21106	0.846000	0.48090	5.683000	0.68189	2.556000	0.86216	0.561000	0.74099	CCA	DNMBP	-	NULL		0.542	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	G	NM_015221		101645515	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	0.994	C	C	101645515	G	C	101645515	3	2	185	1	0	0	0	0	1	0	0	0	4684	1174	41	1	1022	1	DNMBP	10	101645515	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1492761	101645515	33889232	829	35104										
CPN1	1369	genome.wustl.edu	37	chr10	101802222	101802222	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagctgcctcatctccatttCtttctttctggcttggggct	8	13	5	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:101802222C>G	ENST00000370418.3	-	9	1590	c.1339G>C	c.(1339-1341)Gaa>Caa	p.E447Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	447					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCTCCATTTCTTTCTTTCTG	0.552																																																	0													97	86	90					10																	101802222		2203	4300	6503	SO:0001583	missense	1369			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1339G>C	10.37:g.101802222C>G	ENSP00000359446:p.Glu447Gln		B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.E447Q	ENST00000370418.3	37	c.1339	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	C	7.497	0.651801	0.14516	.	.	ENSG00000120054	ENST00000370418	T	0.17054	2.3	4.02	1.14	0.20703	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.20955	0.032	T	0.42103	-0.9471	9	0.14656	T	0.56	-13.8138	3.3415	0.07120	0.2046:0.5783:0.0:0.2171	.	447	P15169	CBPN_HUMAN	Q	447	ENSP00000359446:E447Q	ENSP00000359446:E447Q	E	-	1	0	CPN1	101792212	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.022000	0.12480	0.252000	0.21531	-0.145000	0.13849	GAA	CPN1	-	NULL		0.552	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1	C	NM_001308		101802222	-1	no_errors	ENST00000370418	ensembl	human	known	70_37	missense	SNP	0.000	G	G	101802222	C	G	101802222	3	3	185	1	0	0	0	0	1	0	0	0	3814	922	32	1	41	1	CPN1	10	101802222	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	156707	101802222	33732525	830	35105										
FBXW4	6468	genome.wustl.edu	37	chr10	103433427	103433427	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctagctgcatccagggcatCtgactgaaatgatggaaaag	11	8	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:103433427C>G	ENST00000331272.7	-	3	978	c.360G>C	c.(358-360)caG>caC	p.Q120H		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	120					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TCCAGGGCATCTGACTGAAAT	0.423																																																	0													58	59	59					10																	103433427		2203	4300	6503	SO:0001583	missense	6468			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"F-boxes / WD-40 domains", "WD repeat domain containing"	10847	protein-coding gene	gene with protein product		608071	"split hand/foot malformation (ectrodactyly) type 3", "F-box and WD-40 domain protein 4"	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.360G>C	10.37:g.103433427C>G	ENSP00000359149:p.Gln120His		Q5SVS1|Q96IM6	Splice_Site	SNP	-	e3-1	ENST00000331272.7	37	c.361-1	CCDS31271.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.768515|1.768515	0.31320|0.31320	.|.	.|.	ENSG00000107829|ENSG00000107829	ENST00000331272;ENST00000457105;ENST00000431477|ENST00000389046	.|.	.|.	.|.	5.23|5.23	3.25|3.25	0.37280|0.37280	.|.	.|0.205916	.|0.41500	.|D	.|0.000869	.|T	.|0.20210	.|0.0486	N|N	0.19112|0.19112	0.55|0.55	0.30869|0.30869	N|N	0.732681|0.732681	.|P	.|0.46277	.|0.875	.|B	.|0.41510	.|0.359	.|T	.|0.08006	.|-1.0743	.|8	.|.	.|.	.|.	.|.	5.5723|5.5723	0.17204|0.17204	0.0:0.6246:0.1468:0.2286|0.0:0.6246:0.1468:0.2286	.|.	.|120	.|P57775	.|FBXW4_HUMAN	.|H	-1|120	.|.	.|.	.|Q	-|-	.|3	.|2	FBXW4|FBXW4	103423417|103423417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.802000|0.802000	0.45316|0.45316	2.139000|2.139000	0.42149|0.42149	1.345000|1.345000	0.45676|0.45676	0.484000|0.484000	0.47621|0.47621	.|CAG	FBXW4	-	-		0.423	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2	C	NM_022039		103433427	-1	no_errors	ENST00000331272	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	103433427	C	G	103433427	3	3	185	1	0	0	0	0	1	0	0	0	5785	912	32	1	906	1	FBXW4	10	103433427	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1631205	103433427	32101320	831	35106										
COL17A1	1308	genome.wustl.edu	37	chr10	105815742	105815742	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agctcatccacacgcgccttCagcttcctcacctcctccgc	5	21	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:105815742C>T	ENST00000353479.5	-	18	1775	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	COL17A1_ENST00000369733.3_Silent_p.L495L|COL17A1_ENST00000480127.1_5'Flank	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	495	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CACGCGCCTTCAGCTTCCTCA	0.582																																																	0													123	97	106					10																	105815742		2203	4300	6503	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1485G>A	10.37:g.105815742C>T			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.L495	ENST00000353479.5	37	c.1485	CCDS7554.1	10																																																																																			COL17A1	-	NULL		0.582	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494		105815742	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	silent	SNP	1.000	T	T	105815742	C	T	105815742	2	4	185	1	0	0	0	0	0	0	0	1	3679	813	29	1		1	COL17A1	10	105815742	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2382315	105815742	29719005	832	35107										
COL17A1	1308	genome.wustl.edu	37	chr10	105817941	105817941	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccctttgtggacacagtcttCaggtctcctgaaaggacaaa	9	11	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:105817941C>G	ENST00000353479.5	-	16	1520	c.1230G>C	c.(1228-1230)ctG>ctC	p.L410L	COL17A1_ENST00000369733.3_Silent_p.L410L|COL17A1_ENST00000480127.1_5'Flank	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	410	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACACAGTCTTCAGGTCTCCTG	0.498																																																	0													109	87	95					10																	105817941		2203	4300	6503	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1230G>C	10.37:g.105817941C>G			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.L410	ENST00000353479.5	37	c.1230	CCDS7554.1	10																																																																																			COL17A1	-	NULL		0.498	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494		105817941	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	silent	SNP	0.261	G	G	105817941	C	G	105817941	2	3	185	1	0	0	0	0	0	0	0	1	3679	813	29	1		1	COL17A1	10	105817941	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2199	105817941	29716806	833	35108										
CCDC147	159686	genome.wustl.edu	37	chr10	106139912	106139912	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaggctcagaagcagagaaaGatcatctttcatctggaaaa	10	7	5	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:106139912G>C	ENST00000369704.3	+	9	1433	c.1299G>C	c.(1297-1299)aaG>aaC	p.K433N	CCDC147_ENST00000312902.5_Missense_Mutation_p.K55N|CCDC147_ENST00000369703.1_Missense_Mutation_p.K55N	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		433						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGCAGAGAAAGATCATCTTTC	0.493																																																	0													134	121	125					10																	106139912		2203	4300	6503	SO:0001583	missense	159686																														ENST00000369704.3:c.1299G>C	10.37:g.106139912G>C	ENSP00000358718:p.Lys433Asn		D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.K433N	ENST00000369704.3	37	c.1299	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328902	0.81690	.	.	ENSG00000120051	ENST00000369704;ENST00000312902;ENST00000369703	T	0.38240	1.15	4.95	4.05	0.47172	.	0.044340	0.85682	D	0.000000	T	0.53786	0.1818	M	0.85859	2.78	0.58432	D	0.999998	P	0.52170	0.951	P	0.52881	0.712	T	0.61642	-0.7021	10	0.87932	D	0	-30.0165	11.519	0.50541	0.084:0.0:0.916:0.0	.	433	Q5T655	CC147_HUMAN	N	433;55;55	ENSP00000358718:K433N	ENSP00000323620:K55N	K	+	3	2	CCDC147	106129902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.410000	0.52664	1.085000	0.41206	0.557000	0.71058	AAG	CCDC147	-	NULL		0.493	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	G			106139912	1	no_errors	ENST00000369704	ensembl	human	known	70_37	missense	SNP	1.000	C	C	106139912	G	C	106139912	3	2	185	1	0	0	0	0	1	0	0	0	2786	933	33	1	1333	1	CCDC147	10	106139912	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	321971	106139912	29394835	834	35109										
XPNPEP1	7511	genome.wustl.edu	37	chr10	111651574	111651574	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgcatgctcttctgtgatGatggctgtgcctgaagcagg	14	9	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:111651574G>A	ENST00000502935.1	-	5	440	c.321C>T	c.(319-321)atC>atT	p.I107I	XPNPEP1_ENST00000322238.8_Silent_p.I107I|XPNPEP1_ENST00000369683.1_5'UTR|XPNPEP1_ENST00000369680.4_Silent_p.I64I|XPNPEP1_ENST00000430337.1_5'UTR					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTTCTGTGATGATGGCTGTGC	0.488																																																	0													126	114	118					10																	111651574		2203	4300	6503	SO:0001819	synonymous_variant	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.321C>T	10.37:g.111651574G>A				Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.I107	ENST00000502935.1	37	c.321	CCDS7560.2	10																																																																																			XPNPEP1	-	pfam_Creatinase		0.488	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	G			111651574	-1	no_errors	ENST00000502935	ensembl	human	known	70_37	silent	SNP	0.987	A	A	111651574	G	A	111651574	2	1	185	1	0	0	0	0	0	0	0	1	17473	1280	45	1		1	XPNPEP1	10	111651574	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5511662	111651574	23883173	835	35110										
NRAP	4892	genome.wustl.edu	37	chr10	115364439	115364439	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggcagtgctgtgaacttgtGatactgtgtcctgtagtcgt	14	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:115364439G>C	ENST00000359988.3	-	35	4400	c.4156C>G	c.(4156-4158)Cac>Gac	p.H1386D	NRAP_ENST00000360478.3_Missense_Mutation_p.H1351D|NRAP_ENST00000369360.3_Missense_Mutation_p.H1359D|NRAP_ENST00000369358.4_Missense_Mutation_p.H1394D	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.H1386D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGAACTTGTGATACTGTGTC	0.587																																																	1	Substitution - Missense(1)	lung(1)											131	124	127					10																	115364439		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4156C>G	10.37:g.115364439G>C	ENSP00000353078:p.His1386Asp			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.H1394D	ENST00000359988.3	37	c.4180	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057968	0.55325	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.54	5.54	0.83059	.	0.048846	0.85682	D	0.000000	T	0.68568	0.3015	M	0.83118	2.625	0.50039	D	0.999849	D;D;D;D	0.89917	0.988;1.0;0.999;1.0	P;D;D;D	0.91635	0.899;0.999;0.999;0.999	T	0.66858	-0.5817	10	0.33141	T	0.24	.	19.4903	0.95047	0.0:0.0:1.0:0.0	.	544;1386;1351;1386	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	D	1394;1359;1386;1351;544	ENSP00000358365:H1394D;ENSP00000358367:H1359D;ENSP00000353078:H1386D;ENSP00000353666:H1351D	ENSP00000353078:H1386D	H	-	1	0	NRAP	115354429	1.000000	0.71417	0.923000	0.36655	0.071000	0.16799	9.869000	0.99810	2.622000	0.88805	0.555000	0.69702	CAC	NRAP	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.587	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	G	NM_006175		115364439	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	missense	SNP	1.000	C	C	115364439	G	C	115364439	3	2	185	1	0	0	0	0	1	0	0	0	10662	1290	45	1	1068	1	NRAP	10	115364439	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3712865	115364439	20170308	836	35111										
ADRB1	153	genome.wustl.edu	37	chr10	115804371	115804371	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggaccgctacctcgccatCacctcgcccttccgctacca	6	21	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:115804371C>T	ENST00000369295.2	+	1	566	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	160					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	ACCTCGCCATCACCTCGCCCT	0.677																																																	0													72	79	77					10																	115804371		2203	4300	6503	SO:0001819	synonymous_variant	153			J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.480C>T	10.37:g.115804371C>T			B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B1,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_5HT6_rcpt	p.I160	ENST00000369295.2	37	c.480	CCDS7586.1	10																																																																																			ADRB1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT6_rcpt		0.677	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB1	HGNC	protein_coding	OTTHUMT00000050448.1	C			115804371	1	no_errors	ENST00000369295	ensembl	human	known	70_37	silent	SNP	1.000	T	T	115804371	C	T	115804371	2	4	185	1	0	0	0	0	0	0	0	1	340	816	29	1		1	ADRB1	10	115804371	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	439932	115804371	19730376	837	35112										
TDRD1	56165	genome.wustl.edu	37	chr10	115973251	115973251	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgataaatccgagacgcctCatgtcagtgttagcaaagtt	9	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:115973251C>G	ENST00000369280.1	+	15	2438	c.1978C>G	c.(1978-1980)Cat>Gat	p.H660D	TDRD1_ENST00000369282.1_Missense_Mutation_p.H660D|TDRD1_ENST00000369281.2_Missense_Mutation_p.H603D|TDRD1_ENST00000251864.2_Missense_Mutation_p.H660D|TDRD1_ENST00000422662.1_Missense_Mutation_p.H264D			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	660					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CGAGACGCCTCATGTCAGTGT	0.428																																																	0													154	143	147					10																	115973251		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1978C>G	10.37:g.115973251C>G	ENSP00000358286:p.His660Asp		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.H660D	ENST00000369280.1	37	c.1978		10	.	.	.	.	.	.	.	.	.	.	C	6.311	0.425575	0.11987	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.16897	3.25;3.25;2.31;2.61;3.25	5.8	-7.73	0.01245	.	1.231740	0.05304	N	0.523532	T	0.16938	0.0407	M	0.68317	2.08	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.001;0.001;0.001	T	0.31024	-0.9958	10	0.12766	T	0.61	0.0984	13.4259	0.61026	0.2347:0.641:0.1243:0.0	.	264;660;603;660;603	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	D	660;660;603;264;660	ENSP00000358288:H660D;ENSP00000251864:H660D;ENSP00000358287:H603D;ENSP00000402794:H264D;ENSP00000358286:H660D	ENSP00000251864:H660D	H	+	1	0	TDRD1	115963241	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.077000	0.11394	-1.854000	0.01163	-0.457000	0.05445	CAT	TDRD1	-	NULL		0.428	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	C			115973251	1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.000	G	G	115973251	C	G	115973251	3	3	185	1	0	0	0	0	1	0	0	0	15760	826	29	1	2032	1	TDRD1	10	115973251	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	168880	115973251	19561496	838	35113										
FAM160B1	57700	genome.wustl.edu	37	chr10	116603586	116603586	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgcaaagtgccttacacaGagcacttgcttgtgtgaact	10	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:116603586G>C	ENST00000369248.4	+	7	1238	c.903G>C	c.(901-903)caG>caC	p.Q301H	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q301H	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	301										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCCTTACACAGAGCACTTGCT	0.478																																																	0													110	91	97					10																	116603586		2203	4300	6503	SO:0001583	missense	57700			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.903G>C	10.37:g.116603586G>C	ENSP00000358251:p.Gln301His		Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.Q301H	ENST00000369248.4	37	c.903	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611456	0.66558	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.31769	1.48;1.48	5.39	5.39	0.77823	.	0.101801	0.64402	D	0.000002	T	0.32793	0.0841	L	0.47190	1.495	0.80722	D	1	P;P	0.41214	0.725;0.742	P;B	0.45474	0.482;0.343	T	0.04333	-1.0959	10	0.46703	T	0.11	-11.6142	10.3203	0.43762	0.1206:0.0:0.8794:0.0	.	301;301	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	H	301	ENSP00000358251:Q301H;ENSP00000358253:Q301H	ENSP00000358251:Q301H	Q	+	3	2	FAM160B1	116593576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.774000	0.47694	2.526000	0.85167	0.655000	0.94253	CAG	FAM160B1	-	pfam_RetinoicA-induced_16-like		0.478	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1	G	XM_049351		116603586	1	no_errors	ENST00000369248	ensembl	human	known	70_37	missense	SNP	1.000	C	C	116603586	G	C	116603586	3	2	185	1	0	0	0	0	1	0	0	0	5485	933	33	1	929	1	FAM160B1	10	116603586	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	630335	116603586	18931161	839	35114										
PNLIPRP2	5408	genome.wustl.edu	37	chr10	118394403	118394403	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagaagcttcgagtattactCaagcagcgtcctcaaccctg	8	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:118394403C>G	ENST00000298771.7	+	0	894				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GAGTATTACTCAAGCAGCGTC	0.498																																																	0													93	93	93					10																	118394403		1959	4178	6137			5408			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118394403C>G			A8K627|Q6IB55	Nonsense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.S290*	ENST00000298771.7	37	c.869		10	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645469	0.47258	.	.	ENSG00000165862	ENST00000537242	.	.	.	5.51	4.59	0.56863	.	0.294502	0.23764	U	0.044788	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	14.7215	0.69311	0.1464:0.8536:0.0:0.0	.	.	.	.	X	290	.	ENSP00000446346:S290X	S	+	2	0	PNLIPRP2	118384393	0.001000	0.12720	0.034000	0.17996	0.111000	0.19643	1.478000	0.35442	1.426000	0.47256	0.460000	0.39030	TCA	PNLIPRP2	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.498	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	HGNC	polymorphic_pseudogene	OTTHUMT00000050546.6	C	NM_005396		118394403	1	no_errors	ENST00000537242	ensembl	human	known	70_37	nonsense	SNP	0.037	G	G	118394403	C	G	118394403	1	3	185	0	1	0	0	0	0	0	0	0	12175	838	29	1		1	PNLIPRP2	10	118394403	RNA	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1790817	118394403	17140344	840	35115										
PDZD8	118987	genome.wustl.edu	37	chr10	119043870	119043870	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctttcaaatatttgaagtGaatagtaatgtcaccatagc	6	6	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:119043870G>C	ENST00000334464.5	-	5	2613	c.2374C>G	c.(2374-2376)Cac>Gac	p.H792D	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	792					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATTTGAAGTGAATAGTAATG	0.393																																																	0													80	79	79					10																	119043870		2203	4300	6503	SO:0001583	missense	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2374C>G	10.37:g.119043870G>C	ENSP00000334642:p.His792Asp		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.H792D	ENST00000334464.5	37	c.2374	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.158110	0.00321	.	.	ENSG00000165650	ENST00000334464	D	0.85171	-1.95	5.62	3.64	0.41730	.	0.270563	0.40640	N	0.001043	T	0.74959	0.3785	N	0.24115	0.695	0.22185	N	0.999304	B	0.17038	0.02	B	0.19148	0.024	T	0.60747	-0.7202	10	0.25751	T	0.34	-8.0214	13.3179	0.60417	0.0:0.0:0.5917:0.4083	.	792	Q8NEN9	PDZD8_HUMAN	D	792	ENSP00000334642:H792D	ENSP00000334642:H792D	H	-	1	0	PDZD8	119033860	1.000000	0.71417	0.956000	0.39512	0.952000	0.60782	4.044000	0.57361	1.360000	0.45960	-0.309000	0.09137	CAC	PDZD8	-	NULL		0.393	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	G	NM_173791		119043870	-1	no_errors	ENST00000334464	ensembl	human	known	70_37	missense	SNP	0.425	C	C	119043870	G	C	119043870	3	2	185	1	0	0	0	0	1	0	0	0	11729	1290	45	1	1094	1	PDZD8	10	119043870	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	649467	119043870	16490877	841	35116										
RAB11FIP2	22841	genome.wustl.edu	37	chr10	119798568	119798568	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaatagtcctggcgattttCactaaatgcattaggtgatt	8	6	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:119798568C>T	ENST00000355624.3	-	3	1619	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E394K	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	394					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TGGCGATTTTCACTAAATGCA	0.363																																																	0													165	171	169					10																	119798568		2203	4300	6503	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1180G>A	10.37:g.119798568C>T	ENSP00000347839:p.Glu394Lys		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E394K	ENST00000355624.3	37	c.1180	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862494	0.51482	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.64803	-0.08;-0.12	5.86	5.86	0.93980	.	0.426506	0.30714	N	0.009029	T	0.52419	0.1733	L	0.44542	1.39	0.47621	D	0.999479	P;P	0.40431	0.717;0.495	B;B	0.30251	0.113;0.077	T	0.50759	-0.8790	10	0.21540	T	0.41	-20.5294	20.5632	0.99335	0.0:1.0:0.0:0.0	.	394;394	Q3I768;Q7L804	.;RFIP2_HUMAN	K	394	ENSP00000347839:E394K;ENSP00000358200:E394K	ENSP00000347839:E394K	E	-	1	0	RAB11FIP2	119788558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.303000	0.72794	2.937000	0.99478	0.650000	0.86243	GAA	RAB11FIP2	-	NULL		0.363	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	C	NM_014904		119798568	-1	no_errors	ENST00000369199	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119798568	C	T	119798568	3	4	185	1	0	0	0	0	1	0	0	0	12924	835	29	1	370	1	RAB11FIP2	10	119798568	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	754698	119798568	15736179	842	35117										
NSMCE4A	54780	genome.wustl.edu	37	chr10	123719111	123719111	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcattaatactaacaggctCtgtttgaaagacaaattttt	5	6	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:123719111C>G	ENST00000369023.3	-	9	1040		c.e9-1		NSMCE4A_ENST00000489266.1_Splice_Site	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				CTAACAGGCTCTGTTTGAAAG	0.318																																																	0													110	106	108					10																	123719111		2203	4300	6503	SO:0001630	splice_region_variant	54780			AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"chromosome 10 open reading frame 86"	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.989-1G>C	10.37:g.123719111C>G			Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Splice_Site	SNP	-	e9-1	ENST00000369023.3	37	c.989-1	CCDS7624.1	10	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569158	0.65765	.	.	ENSG00000107672	ENST00000369023	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.854	0.78960	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMCE4A	123709101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.185000	0.58330	2.826000	0.97356	0.655000	0.94253	.	NSMCE4A	-	-		0.318	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE4A	HGNC	protein_coding	OTTHUMT00000050749.1	C	NM_017615	Intron	123719111	-1	no_errors	ENST00000369023	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	123719111	C	G	123719111	5	3	185	1	0	0	0	0	0	0	1	0	10701	927	32	1	177	1	NSMCE4A	10	123719111	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3920543	123719111	11815636	843	35118										
TACC2	10579	genome.wustl.edu	37	chr10	124009176	124009176	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggaaaggacgctggagcaGaaggtaataggggaggggtg	20	4	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:124009176G>C	ENST00000369005.1	+	22	9118	c.8778G>C	c.(8776-8778)caG>caC	p.Q2926H	TACC2_ENST00000369004.3_Missense_Mutation_p.Q986H|TACC2_ENST00000453444.2_Missense_Mutation_p.Q2853H|TACC2_ENST00000513429.1_Missense_Mutation_p.Q1072H|TACC2_ENST00000334433.3_Missense_Mutation_p.Q2926H|TACC2_ENST00000369000.1_Missense_Mutation_p.Q549H|TACC2_ENST00000358010.1_Missense_Mutation_p.Q1072H|TACC2_ENST00000260733.3_Missense_Mutation_p.Q1004H|TACC2_ENST00000360561.3_Missense_Mutation_p.Q974H|TACC2_ENST00000515273.1_Missense_Mutation_p.Q2853H|TACC2_ENST00000368999.1_Missense_Mutation_p.Q1016H|TACC2_ENST00000369001.1_Missense_Mutation_p.Q553H|TACC2_ENST00000515603.1_Missense_Mutation_p.Q2804H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2926					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCTGGAGCAGAAGGTAATAG	0.672																																																	0													25	26	26					10																	124009176		2203	4299	6502	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8778G>C	10.37:g.124009176G>C	ENSP00000358001:p.Gln2926His		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.Q2926H	ENST00000369005.1	37	c.8778	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109073	0.56398	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.16	4.24	0.50183	.	0.000000	0.34932	N	0.003571	T	0.59376	0.2189	L	0.58810	1.83	0.54753	D	0.999984	P;D;D;D;P;P;D;P;D	0.89917	0.933;0.999;0.961;0.999;0.911;0.567;1.0;0.855;0.961	D;D;D;D;P;P;D;P;D	0.91635	0.95;0.998;0.977;0.999;0.901;0.79;0.999;0.79;0.977	T	0.61168	-0.7117	10	0.72032	D	0.01	-13.6562	6.474	0.22024	0.2663:0.0:0.7337:0.0	.	2853;986;2804;2853;974;1004;549;1072;2926	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	H	2926;1072;2853;2804;2926;1072;2853;2839;553;549;974;1016;986;1004	ENSP00000358001:Q2926H;ENSP00000425062:Q1072H;ENSP00000424467:Q2853H;ENSP00000427618:Q2804H;ENSP00000334280:Q2926H;ENSP00000350701:Q1072H;ENSP00000395048:Q2853H;ENSP00000357997:Q553H;ENSP00000357996:Q549H;ENSP00000353763:Q974H;ENSP00000357995:Q1016H;ENSP00000422815:Q986H;ENSP00000260733:Q1004H	ENSP00000260733:Q1004H	Q	+	3	2	TACC2	123999166	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	2.164000	0.42387	2.573000	0.86826	0.655000	0.94253	CAG	TACC2	-	pfam_TACC		0.672	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	G			124009176	1	no_errors	ENST00000334433	ensembl	human	known	70_37	missense	SNP	1.000	C	C	124009176	G	C	124009176	3	2	185	1	0	0	0	0	1	0	0	0	15532	933	33	1	8932	1	TACC2	10	124009176	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	290065	124009176	11525571	844	35119										
DMBT1	1755	genome.wustl.edu	37	chr10	124390648	124390648	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgtgcagtttcagcccttgGaaatgcatattttggctctg	10	9	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:124390648G>C	ENST00000338354.3	+	46	5916	c.5810G>C	c.(5809-5811)gGa>gCa	p.G1937A	DMBT1_ENST00000330163.4_Missense_Mutation_p.G1309A|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1937A|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1927A|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1927A|DMBT1_ENST00000359586.6_Missense_Mutation_p.G657A|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1309A			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1937	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCTTGGAAATGCATAT	0.582																																					Ovarian(182;93 2026 18125 22222 38972)												0													121	123	122					10																	124390648		2059	4200	6259	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5810G>C	10.37:g.124390648G>C	ENSP00000342210:p.Gly1937Ala		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.G2066A	ENST00000338354.3	37	c.6197		10	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494251	0.44352	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.41	3.44	0.39384	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.57695	0.2071	M	0.70595	2.14	0.09310	N	1	P;D;P;D;D;D;B	0.89917	0.804;1.0;0.827;1.0;1.0;0.999;0.213	B;D;B;D;D;D;B	0.97110	0.284;1.0;0.259;1.0;0.998;0.997;0.345	T	0.42275	-0.9461	9	0.33141	T	0.24	.	6.582	0.22600	0.1545:0.0:0.7011:0.1444	.	657;1917;1186;2066;1309;1927;1937	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	A	1937;2066;1937;1937;1937;1937;1309;1927;1309;1309;1937;1927;1309;83;657	ENSP00000342210:G1937A;ENSP00000343175:G1927A;ENSP00000327747:G1309A;ENSP00000357905:G1937A;ENSP00000357951:G1927A;ENSP00000357952:G1309A;ENSP00000352593:G657A	ENSP00000331522:G1309A	G	+	2	0	DMBT1	124380638	0.000000	0.05858	0.020000	0.16555	0.023000	0.10783	-0.301000	0.08232	1.271000	0.44313	0.655000	0.94253	GGA	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	G	NM_004406		124390648	1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	0.001	C	C	124390648	G	C	124390648	3	2	185	1	0	0	0	0	1	0	0	0	4587	1174	41	1	5992	1	DMBT1	10	124390648	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	381472	124390648	11144099	845	35120										
CPXM2	119587	genome.wustl.edu	37	chr10	125506281	125506281	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctcaagggcccaggagggtCacccacgctgtcgtctcttc	11	15	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:125506281C>T	ENST00000241305.3	-	14	2424	c.2270G>A	c.(2269-2271)tGa>tAa	p.*757*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	0					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCAGGAGGGTCACCCACGCTG	0.572																																																	0													46	50	48					10																	125506281		2203	4300	6503	SO:0001819	synonymous_variant	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2270G>A	10.37:g.125506281C>T			B4E3Q2	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.*757	ENST00000241305.3	37	c.2270	CCDS7637.1	10																																																																																			CPXM2	-	NULL		0.572	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	C	NM_198148		125506281	-1	no_errors	ENST00000241305	ensembl	human	known	70_37	silent	SNP	0.374	T	T	125506281	C	T	125506281	2	4	185	1	0	0	0	0	0	0	0	1	3843	837	29	1		1	CPXM2	10	125506281	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1115633	125506281	10028466	846	35121										
DOCK1	1793	genome.wustl.edu	37	chr10	128908536	128908536	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgtttactgaattcatcctCaatgttcccatgggcttgct	7	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:128908536C>G	ENST00000280333.6	+	25	2587	c.2478C>G	c.(2476-2478)ctC>ctG	p.L826L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	826					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AATTCATCCTCAATGTTCCCA	0.418																																																	0													94	93	93					10																	128908536		1926	4141	6067	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2478C>G	10.37:g.128908536C>G			A9Z1Z5	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.L826	ENST00000280333.6	37	c.2478		10																																																																																			DOCK1	-	superfamily_ARM-type_fold		0.418	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	C	NM_001380		128908536	1	no_errors	ENST00000280333	ensembl	human	known	70_37	silent	SNP	0.147	G	G	128908536	C	G	128908536	2	3	185	1	0	0	0	0	0	0	0	1	4694	813	29	1		1	DOCK1	10	128908536	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3402255	128908536	6626211	847	35122										
MKI67	4288	genome.wustl.edu	37	chr10	129906098	129906098	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcctgggcctcttccttagGagtttgtggccgtctcttgc	12	12	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:129906098G>C	ENST00000368654.3	-	13	4381	c.4006C>G	c.(4006-4008)Cct>Gct	p.P1336A	MKI67_ENST00000368653.3_Missense_Mutation_p.P976A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1336	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCCTTAGGAGTTTGTGGC	0.502																																																	0													150	153	152					10																	129906098		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4006C>G	10.37:g.129906098G>C	ENSP00000357643:p.Pro1336Ala		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P1336A	ENST00000368654.3	37	c.4006	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111361	0.37242	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02606	4.23;4.23	4.07	-1.52	0.08637	.	0.407124	0.18027	N	0.154041	T	0.06962	0.0177	M	0.70595	2.14	0.09310	N	1	B;P;D	0.67145	0.27;0.461;0.996	B;B;P	0.58077	0.059;0.135;0.832	T	0.17410	-1.0370	10	0.32370	T	0.25	.	5.1723	0.15116	0.3064:0.1581:0.5355:0.0	.	1335;976;1336	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	1336;976;1335	ENSP00000357643:P1336A;ENSP00000357642:P976A	ENSP00000357642:P976A	P	-	1	0	MKI67	129796088	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.656000	0.24948	-0.626000	0.05596	-0.311000	0.09066	CCT	MKI67	-	pfam_K167R		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	G	NM_002417		129906098	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.001	C	C	129906098	G	C	129906098	3	2	185	1	0	0	0	0	1	0	0	0	9621	1174	41	1	5776	1	MKI67	10	129906098	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	997562	129906098	5628649	848	35123										
EBF3	253738	genome.wustl.edu	37	chr10	131639260	131639260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tactgctggggacgtagcctCgcggggacacgctgcttgta	15	11	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:131639260C>T	ENST00000355311.5	-	14	1481	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	EBF3_ENST00000368648.3_Missense_Mutation_p.R461Q|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	470	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R461Q(1)|p.R470Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GACGTAGCCTCGCGGGGACAC	0.552																																																	2	Substitution - Missense(2)	lung(2)											152	140	144					10																	131639260		2203	4300	6503	SO:0001583	missense	253738				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1409G>A	10.37:g.131639260C>T	ENSP00000347463:p.Arg470Gln		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.R470Q	ENST00000355311.5	37	c.1409		10	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616512	0.66672	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.53423	0.62;0.62	4.81	3.91	0.45181	.	0.064885	0.64402	D	0.000005	T	0.56108	0.1963	M	0.73962	2.25	0.58432	D	0.999991	P	0.45176	0.852	P	0.47864	0.559	T	0.62576	-0.6825	10	0.62326	D	0.03	-0.3601	13.2433	0.60010	0.0:0.9237:0.0:0.0763	.	461	Q9H4W6-2	.	Q	470;461	ENSP00000347463:R470Q;ENSP00000357637:R461Q	ENSP00000347463:R470Q	R	-	2	0	EBF3	131529250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.879000	0.56138	1.245000	0.43885	0.655000	0.94253	CGA	EBF3	-	NULL		0.552	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	C	NM_001005463		131639260	-1	no_errors	ENST00000355311	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131639260	C	T	131639260	3	4	185	1	0	0	0	0	1	0	0	0	4892	884	31	1	285	1	EBF3	10	131639260	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1733162	131639260	3895487	849	35124										
PAOX	196743	genome.wustl.edu	37	chr10	135193640	135193640	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agctggtggagaccgggggtCacgtgggcctgccctccgtg	18	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr10:135193640C>T	ENST00000278060.5	+	2	402	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	PAOX_ENST00000368539.4_Intron|PAOX_ENST00000480071.2_Missense_Mutation_p.H107Y|PAOX_ENST00000368535.2_3'UTR|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000357296.3_Missense_Mutation_p.H107Y	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	245					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GACCGGGGGTCACGTGGGCCT	0.677																																																	0													27	29	28					10																	135193640		2191	4295	6486	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.319C>T	10.37:g.135193640C>T	ENSP00000278060:p.His107Tyr		D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	pfam_Amino_oxidase	p.H107Y	ENST00000278060.5	37	c.319	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903884	0.72754	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92299	-3.01;-3.01;-3.01	4.88	4.88	0.63580	.	0.128218	0.51477	D	0.000083	D	0.93585	0.7952	L	0.43598	1.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.982;0.987;0.982	D	0.91857	0.5496	10	0.24483	T	0.36	-29.5562	15.5336	0.75983	0.0:1.0:0.0:0.0	.	107;107;107	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	Y	107	ENSP00000278060:H107Y;ENSP00000349847:H107Y;ENSP00000435514:H107Y	ENSP00000278060:H107Y	H	+	1	0	PAOX	135043630	0.976000	0.34144	0.855000	0.33649	0.477000	0.33069	3.058000	0.49939	2.258000	0.74832	0.563000	0.77884	CAC	PAOX	-	pfam_Amino_oxidase		0.677	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	HGNC	protein_coding	OTTHUMT00000051146.2	C	NM_152911		135193640	1	no_errors	ENST00000278060	ensembl	human	known	70_37	missense	SNP	1.000	T	T	135193640	C	T	135193640	3	4	185	1	0	0	0	0	1	0	0	0	11447	826	29	1	325	1	PAOX	10	135193640	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3554380	135193640	341107	850	35125										
ODF3	113746	genome.wustl.edu	37	chr11	199426	199426	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggtgaccaagttcaaggctCcgcagtacaccatggctgcc	12	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:199426C>G	ENST00000325113.4	+	6	909	c.592C>G	c.(592-594)Ccg>Gcg	p.P198A	ODF3_ENST00000525282.1_Intron|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	198					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTTCAAGGCTCCGCAGTACAC	0.637																																																	0													35	29	31					11																	199426		2197	4289	6486	SO:0001583	missense	113746			AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"cancer/testis antigen 135"	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.592C>G	11.37:g.199426C>G	ENSP00000325868:p.Pro198Ala		B7ZLT0|Q69YX0	Missense_Mutation	SNP	pfam_SHIPPO-rpt	p.P198A	ENST00000325113.4	37	c.592	CCDS7688.1	11	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923292	0.73213	.	.	ENSG00000177947	ENST00000325113	T	0.50277	0.75	5.0	5.0	0.66597	.	0.000000	0.45867	D	0.000331	T	0.70798	0.3265	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.75167	-0.3413	10	0.66056	D	0.02	-11.8003	13.6637	0.62382	0.0:1.0:0.0:0.0	.	198	Q96PU9	ODF3A_HUMAN	A	198	ENSP00000325868:P198A	ENSP00000325868:P198A	P	+	1	0	ODF3	189426	0.997000	0.39634	0.996000	0.52242	0.945000	0.59286	5.770000	0.68873	2.579000	0.87056	0.561000	0.74099	CCG	ODF3	-	pfam_SHIPPO-rpt		0.637	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3	HGNC	protein_coding	OTTHUMT00000239287.1	C			199426	1	no_errors	ENST00000325113	ensembl	human	known	70_37	missense	SNP	0.996	G	G	199426	C	G	199426	3	3	185	1	0	0	0	0	1	0	0	0	10853	855	30	1	610	1	ODF3	11	199426	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		199426	134807090	851	35126										
NLRP6	171389	genome.wustl.edu	37	chr11	281517	281517	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagtggcaccagaggtgaccGagggggccaaagggctcgag	19	9	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:281517G>C	ENST00000312165.5	+	4	1783	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	NLRP6_ENST00000534750.1_Missense_Mutation_p.E595Q	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	595					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGAGGTGACCGAGGGGGCCAA	0.647																																																	0													39	47	45					11																	281517		2202	4300	6502	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1783G>C	11.37:g.281517G>C	ENSP00000309767:p.Glu595Gln		A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E595Q	ENST00000312165.5	37	c.1783	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	1.610	-0.524194	0.04141	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.76448	-1.02;-0.98	3.22	-2.74	0.05932	.	1.806800	0.03612	N	0.234996	T	0.59059	0.2166	L	0.36672	1.1	0.09310	N	1	P;P	0.39551	0.678;0.649	B;B	0.32624	0.065;0.149	T	0.49744	-0.8907	10	0.06757	T	0.87	.	5.1192	0.14851	0.2758:0.2827:0.4415:0.0	.	595;595	E9PJZ8;P59044	.;NALP6_HUMAN	Q	595	ENSP00000433617:E595Q;ENSP00000309767:E595Q	ENSP00000309767:E595Q	E	+	1	0	NLRP6	271517	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.649000	0.05384	-0.586000	0.05898	0.462000	0.41574	GAG	NLRP6	-	NULL		0.647	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		281517	1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.000	C	C	281517	G	C	281517	3	2	185	1	0	0	0	0	1	0	0	0	10505	1059	37	1	1797	1	NLRP6	11	281517	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	82091	281517	134724999	852	35127										
NLRP6	171389	genome.wustl.edu	37	chr11	281661	281661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagccctgtgccggttcccgGagctggcgctgcagcgagtg	16	13	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:281661G>A	ENST00000312165.5	+	4	1927	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	NLRP6_ENST00000534750.1_Missense_Mutation_p.E643K	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	643					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGGTTCCCGGAGCTGGCGCT	0.647																																																	0													85	94	91					11																	281661		2203	4300	6503	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1927G>A	11.37:g.281661G>A	ENSP00000309767:p.Glu643Lys		A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E643K	ENST00000312165.5	37	c.1927	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.554010	0.00918	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.53640	0.61;0.61	2.93	0.89	0.19218	.	0.626643	0.13135	N	0.411160	T	0.54319	0.1851	L	0.45698	1.435	0.09310	N	1	D;D	0.65815	0.995;0.993	P;D	0.70935	0.9;0.971	T	0.45483	-0.9258	10	0.21540	T	0.41	.	8.6931	0.34278	0.0:0.465:0.535:0.0	.	643;643	E9PJZ8;P59044	.;NALP6_HUMAN	K	643	ENSP00000433617:E643K;ENSP00000309767:E643K	ENSP00000309767:E643K	E	+	1	0	NLRP6	271661	0.038000	0.19896	0.003000	0.11579	0.007000	0.05969	1.459000	0.35234	0.243000	0.21327	-0.371000	0.07208	GAG	NLRP6	-	NULL		0.647	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		281661	1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.001	A	A	281661	G	A	281661	3	1	185	1	0	0	0	0	1	0	0	0	10505	1175	41	1	1941	1	NLRP6	11	281661	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	144	281661	134724855	853	35128										
PKP3	11187	genome.wustl.edu	37	chr11	397562	397562	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgatgacattgacctgccctCagcagtcaagtacctcatgg	9	12	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:397562C>T	ENST00000331563.2	+	4	1044	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	323					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCTGCCCTCAGCAGTCAAG	0.607																																																	0													67	62	63					11																	397562		2203	4298	6501	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.968C>T	11.37:g.397562C>T	ENSP00000331678:p.Ser323Leu		F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S323L	ENST00000331563.2	37	c.968	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	c	16.58	3.161816	0.57368	.	.	ENSG00000184363	ENST00000533249;ENST00000331563	T	0.47869	0.83	4.45	3.54	0.40534	Armadillo-like helical (1);Armadillo-type fold (1);	0.384724	0.22962	N	0.053537	T	0.36082	0.0954	L	0.50333	1.59	0.36409	D	0.863636	P	0.35844	0.524	B	0.25140	0.058	T	0.48603	-0.9021	10	0.72032	D	0.01	-8.2377	8.8992	0.35484	0.0:0.8251:0.0:0.1749	.	323	Q9Y446	PKP3_HUMAN	L	167;323	ENSP00000331678:S323L	ENSP00000331678:S323L	S	+	2	0	PKP3	387562	0.870000	0.30015	0.922000	0.36590	0.977000	0.68977	4.173000	0.58249	1.024000	0.39682	0.556000	0.70494	TCA	PKP3	-	superfamily_ARM-type_fold		0.607	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	C	NM_007183		397562	1	no_errors	ENST00000331563	ensembl	human	known	70_37	missense	SNP	0.766	T	T	397562	C	T	397562	3	4	185	1	0	0	0	0	1	0	0	0	12010	838	29	1	982	1	PKP3	11	397562	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	115901	397562	134608954	854	35129										
SIGIRR	59307	genome.wustl.edu	37	chr11	405938	405938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggcagtagaagtctgtgcgGgcactgtagtttcgcgagcc	15	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:405938G>A	ENST00000431843.2	-	10	1497	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	SIGIRR_ENST00000397632.3_Silent_p.A397A|SIGIRR_ENST00000531205.1_Missense_Mutation_p.P494S|SIGIRR_ENST00000382520.2_Missense_Mutation_p.P494S|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000332725.3_Silent_p.A397A	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	397					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTCTGTGCGGGCACTGTAGT	0.632																																																	0													60	47	51					11																	405938		2198	4294	6492	SO:0001819	synonymous_variant	59307				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1191C>T	11.37:g.405938G>A			Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.P494S	ENST00000431843.2	37	c.1480	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.71|14.71	2.616068|2.616068	0.46631|0.46631	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000526395|ENST00000531205;ENST00000382520	.|T;T	.|0.04275	.|3.66;3.66	3.54|3.54	-5.38|-5.38	0.02673|0.02673	.|.	.|.	.|.	.|.	.|.	T|T	0.02970|0.02970	0.0088|0.0088	.|.	.|.	.|.	0.22947|0.22947	N|N	0.998523|0.998523	.|B	.|0.14438	.|0.01	.|B	.|0.10450	.|0.005	T|T	0.46693|0.46693	-0.9173|-0.9173	4|8	.|0.87932	.|D	.|0	.|.	0.8395|0.8395	0.01147|0.01147	0.1736:0.2404:0.2218:0.3642|0.1736:0.2404:0.2218:0.3642	.|.	.|494	.|C9JFX4	.|.	L|S	129|494	.|ENSP00000433022:P494S;ENSP00000371960:P494S	.|ENSP00000371960:P494S	P|P	-|-	2|1	0|0	SIGIRR|SIGIRR	395938|395938	0.314000|0.314000	0.24563|0.24563	0.898000|0.898000	0.35279|0.35279	0.930000|0.930000	0.56654|0.56654	-0.806000|-0.806000	0.04525|0.04525	-0.998000|-0.998000	0.03446|0.03446	-0.339000|-0.339000	0.08088|0.08088	CCC|CCG	SIGIRR	-	NULL		0.632	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	HGNC	protein_coding	OTTHUMT00000383884.3	G	NM_021805		405938	-1	no_errors	ENST00000382520	ensembl	human	known	70_37	missense	SNP	0.920	A	A	405938	G	A	405938	2	1	185	1	0	0	0	0	0	0	0	1	14334	1219	43	4		4	SIGIRR	11	405938	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	8376	405938	134600578	855	35130										
SLC25A22	79751	genome.wustl.edu	37	chr11	794835	794835	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcctggtcttggccaggtcGatgggaaacacgcaggtgac	15	10	1	1	rs138185663		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:794835G>A	ENST00000320230.5	-	3	568	c.87C>T	c.(85-87)atC>atT	p.I29I	SLC25A22_ENST00000531214.1_Silent_p.I29I	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	29					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCAGGTCGATGGGAAACA	0.647																																					Colon(93;848 1468 3270 23355 49636)												0								G	,,	0,4392		0,0,2196	51	45	47		87,87,87	1.3	1	11	dbSNP_134	47	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC25A22	NM_001191060.1,NM_001191061.1,NM_024698.5	,,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,,	29/324,29/324,29/324	794835	1,12981	2196	4295	6491	SO:0001819	synonymous_variant	79751			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.87C>T	11.37:g.794835G>A			A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.I29	ENST00000320230.5	37	c.87	CCDS7715.1	11																																																																																			SLC25A22	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.647	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A22	HGNC	protein_coding	OTTHUMT00000257107.2	G			794835	-1	no_errors	ENST00000320230	ensembl	human	known	70_37	silent	SNP	1.000	A	A	794835	G	A	794835	2	1	185	1	0	0	0	0	0	0	0	1	14515	1048	37	1		1	SLC25A22	11	794835	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	388897	794835	134211681	856	35131										
MUC2	4583	genome.wustl.edu	37	chr11	1082321	1082321	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cactggtgctccctcctgaaGaagacagagaccccctttgg	10	14	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1082321G>A	ENST00000441003.2	+	14	1803	c.1776G>A	c.(1774-1776)aaG>aaA	p.K592K	MUC2_ENST00000359061.5_Silent_p.K592K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	592	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCTCCTGAAGAAGACAGAGA	0.662																																																	0													27	31	29					11																	1082321		1911	4093	6004	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1776G>A	11.37:g.1082321G>A			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.K592	ENST00000441003.2	37	c.1776		11																																																																																			MUC2	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1082321	1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.069	A	A	1082321	G	A	1082321	2	1	185	1	0	0	0	0	0	0	0	1	9998	933	33	1		1	MUC2	11	1082321	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	287486	1082321	133924195	857	35132										
MUC5B	727897	genome.wustl.edu	37	chr11	1263912	1263912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccaccctgagaacagctccCcctcccaaagtgctgaccac	6	19	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1263912C>T	ENST00000529681.1	+	31	5860	c.5802C>T	c.(5800-5802)ccC>ccT	p.P1934P	MUC5B_ENST00000447027.1_Silent_p.P1937P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1934	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			PPPKVLT -> GTPHVS (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACAGCTCCCCCTCCCAAAG	0.642																																																	0													128	160	149					11																	1263912		2171	4249	6420	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5802C>T	11.37:g.1263912C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1937	ENST00000529681.1	37	c.5811	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1263912	1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.096	T	T	1263912	C	T	1263912	2	4	185	1	0	0	0	0	0	0	0	1	10002	610	22	4		4	MUC5B	11	1263912	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	181591	1263912	133742604	858	35133										
BRSK2	9024	genome.wustl.edu	37	chr11	1467069	1467069	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgcaaatccatggaggtgctCagcgtgacggacggcggctc	15	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1467069C>A	ENST00000528841.1	+	12	1542	c.1158C>A	c.(1156-1158)ctC>ctA	p.L386L	BRSK2_ENST00000308219.9_Silent_p.L386L|BRSK2_ENST00000544817.1_Silent_p.L81L|BRSK2_ENST00000526678.1_Silent_p.L386L|BRSK2_ENST00000382179.1_Silent_p.L432L|BRSK2_ENST00000528710.1_Silent_p.L326L|BRSK2_ENST00000531197.1_Silent_p.L386L|BRSK2_ENST00000308230.5_Silent_p.L386L			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	386					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGGAGGTGCTCAGCGTGACGG	0.687																																																	0													37	48	44					11																	1467069		2173	4265	6438	SO:0001819	synonymous_variant	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1158C>A	11.37:g.1467069C>A			B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L432	ENST00000528841.1	37	c.1296	CCDS58107.1	11																																																																																			BRSK2	-	superfamily_Kinase-like_dom		0.687	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	C	NM_003957		1467069	1	no_errors	ENST00000382179	ensembl	human	known	70_37	silent	SNP	0.998	A	A	1467069	C	A	1467069	2	1	185	1	0	0	0	0	0	0	0	1	1527	813	29	3		3	BRSK2	11	1467069	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	203157	1467069	133539447	859	35134										
KRTAP5-3	387266	genome.wustl.edu	37	chr11	1629350	1629350	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agacgggcacacagcagctgGagccacagccccccttggag	13	15	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:1629350G>C	ENST00000399685.1	-	1	343	c.266C>G	c.(265-267)tCc>tGc	p.S89C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	89	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		ACAGCAGCTGGAGCCACAGCC	0.682																																																	0													42	62	55					11																	1629350		2184	4293	6477	SO:0001583	missense	387266			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.266C>G	11.37:g.1629350G>C	ENSP00000382592:p.Ser89Cys		Q6PL44|Q701N3	Missense_Mutation	SNP	NULL	p.S89C	ENST00000399685.1	37	c.266	CCDS41591.1	11	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384649	0.25031	.	.	ENSG00000196224	ENST00000399685	T	0.01548	4.78	2.65	2.65	0.31530	.	.	.	.	.	T	0.04272	0.0118	M	0.85859	2.78	0.22811	N	0.99871	B	0.28850	0.225	B	0.26310	0.068	T	0.10428	-1.0630	9	0.56958	D	0.05	.	11.0603	0.47944	0.0:0.0:1.0:0.0	.	89	Q6L8H2	KRA53_HUMAN	C	89	ENSP00000382592:S89C	ENSP00000382592:S89C	S	-	2	0	KRTAP5-3	1585926	0.000000	0.05858	0.997000	0.53966	0.871000	0.50021	-0.122000	0.10627	1.496000	0.48567	0.289000	0.19496	TCC	KRTAP5-3	-	NULL		0.682	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-3	HGNC	protein_coding	OTTHUMT00000127924.1	G			1629350	-1	no_errors	ENST00000399685	ensembl	human	known	70_37	missense	SNP	0.998	C	C	1629350	G	C	1629350	3	2	185	1	0	0	0	0	1	0	0	0	8582	1174	41	1	454	1	KRTAP5-3	11	1629350	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	162281	1629350	133377166	860	35135										
KCNQ1	3784	genome.wustl.edu	37	chr11	2869097	2869097	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cggcagcggcggcccccccaGagagggcggggcccacatca	16	17	1	1	rs397508103		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:2869097G>A	ENST00000155840.5	+	16	2003	c.1895G>A	c.(1894-1896)aGa>aAa	p.R632K	KCNQ1-AS1_ENST00000440887.2_RNA|KCNQ1_ENST00000526095.1_3'UTR|KCNQ1_ENST00000335475.5_Missense_Mutation_p.R505K	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	632				LHGGSTPGSGGPPREGGAHITQPCGS -> MQQGGPTCNSR SQVVASNE (in Ref. 4; AAM94040). {ECO:0000305}.	atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCCCCCCCAGAGAGGGCGGG	0.697																																																	0													9	9	9					11																	2869097		2133	4222	6355	SO:0001583	missense	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1895G>A	11.37:g.2869097G>A	ENSP00000155840:p.Arg632Lys		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R632K	ENST00000155840.5	37	c.1895	CCDS7736.1	11	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514266	0.04200	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99591	-6.24;-6.24	3.13	2.19	0.27852	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	.	.	.	.	D	0.96244	0.8775	N	0.08118	0	0.09310	N	1	B;B	0.15719	0.001;0.014	B;B	0.21708	0.004;0.036	D	0.93791	0.7092	9	0.05959	T	0.93	.	5.0648	0.14576	0.1572:0.2204:0.6223:0.0	.	505;632	Q14D14;P51787	.;KCNQ1_HUMAN	K	632;505	ENSP00000155840:R632K;ENSP00000334497:R505K	ENSP00000155840:R632K	R	+	2	0	KCNQ1	2825673	0.111000	0.22076	0.001000	0.08648	0.001000	0.01503	2.978000	0.49305	0.859000	0.35456	-0.305000	0.09177	AGA	KCNQ1	-	pfam_K_chnl_volt-dep_KCNQ_C		0.697	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	G	NM_000218		2869097	1	no_errors	ENST00000155840	ensembl	human	known	70_37	missense	SNP	0.001	A	A	2869097	G	A	2869097	3	1	185	1	0	0	0	0	1	0	0	0	8102	942	33	1	1966	1	KCNQ1	11	2869097	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1239747	2869097	132137419	861	35136										
ZNF195	7748	genome.wustl.edu	37	chr11	3380802	3380802	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcttatggttagaaaggcttGagcaagttctgaagaccttc	10	7	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:3380802G>C	ENST00000399602.4	-	6	1562	c.1436C>G	c.(1435-1437)tCa>tGa	p.S479*	ZNF195_ENST00000526601.1_Nonsense_Mutation_p.S460*|ZNF195_ENST00000429541.2_Nonsense_Mutation_p.S411*|ZNF195_ENST00000005082.9_Nonsense_Mutation_p.S456*|ZNF195_ENST00000354599.6_Nonsense_Mutation_p.S407*|ZNF195_ENST00000343338.7_Nonsense_Mutation_p.S411*|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAAAGGCTTGAGCAAGTTCT	0.443																																																	0													114	118	117					11																	3380802		2079	4235	6314	SO:0001587	stop_gained	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1436C>G	11.37:g.3380802G>C	ENSP00000382511:p.Ser479*		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S479*	ENST00000399602.4	37	c.1436	CCDS44522.1	11	.	.	.	.	.	.	.	.	.	.	g	25.1	4.598605	0.87055	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.294	0.15743	0.0:0.3688:0.6312:0.0	.	.	.	.	X	407;479;411;411;456;460	.	ENSP00000005082:S456X	S	-	2	0	ZNF195	3337378	0.001000	0.12720	0.003000	0.11579	0.439000	0.31926	0.643000	0.24750	0.638000	0.30545	0.305000	0.20034	TCA	ZNF195	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF195	HGNC	protein_coding	OTTHUMT00000032321.2	G			3380802	-1	no_errors	ENST00000399602	ensembl	human	known	70_37	nonsense	SNP	0.001	C	C	3380802	G	C	3380802	4	2	185	1	0	0	0	0	0	1	0	0	17788	1294	45	1	457	1	ZNF195	11	3380802	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	511705	3380802	131625714	862	35137										
OR52E2	119678	genome.wustl.edu	37	chr11	5079977	5079977	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agatctgcttggttctgactCcatatatgacaggattgagc	10	8	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:5079977C>G	ENST00000321522.2	-	1	880	c.881G>C	c.(880-882)gGa>gCa	p.G294A		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTTCTGACTCCATATATGAC	0.413																																																	0													69	70	69					11																	5079977		2201	4298	6499	SO:0001583	missense	119678			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.881G>C	11.37:g.5079977C>G	ENSP00000322088:p.Gly294Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G294A	ENST00000321522.2	37	c.881	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432377	0.62844	.	.	ENSG00000176787	ENST00000321522	T	0.35236	1.32	3.44	3.44	0.39384	.	0.000000	0.47852	D	0.000215	T	0.37785	0.1016	L	0.41492	1.28	0.44771	D	0.997773	D	0.60160	0.987	P	0.48770	0.589	T	0.42783	-0.9431	10	0.87932	D	0	.	14.7535	0.69546	0.0:1.0:0.0:0.0	.	294	Q8NGJ4	O52E2_HUMAN	A	294	ENSP00000322088:G294A	ENSP00000322088:G294A	G	-	2	0	OR52E2	5036553	0.073000	0.21202	1.000000	0.80357	0.726000	0.41606	3.627000	0.54252	2.250000	0.74265	0.644000	0.83932	GGA	OR52E2	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.413	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1	C	NM_001005164		5079977	-1	no_errors	ENST00000321522	ensembl	human	known	70_37	missense	SNP	1.000	G	G	5079977	C	G	5079977	3	3	185	1	0	0	0	0	1	0	0	0	11139	855	30	1	99	1	OR52E2	11	5079977	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1699175	5079977	129926539	863	35138										
OR51M1	390059	genome.wustl.edu	37	chr11	5411111	5411111	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agagcaggcctaattgtcatCttccggggacctgtggccac	12	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:5411111C>G	ENST00000328611.3	+	1	505	c.483C>G	c.(481-483)atC>atG	p.I161M	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	161					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATTGTCATCTTCCGGGGAC	0.542																																																	0													217	210	212					11																	5411111		2033	4203	6236	SO:0001583	missense	390059			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.483C>G	11.37:g.5411111C>G	ENSP00000333196:p.Ile161Met		Q6IF80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I161M	ENST00000328611.3	37	c.483	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	C	9.012	0.982727	0.18889	.	.	ENSG00000184698	ENST00000328611	T	0.37752	1.18	4.93	0.679	0.17975	GPCR, rhodopsin-like superfamily (1);	1.128640	0.07009	U	0.824723	T	0.43299	0.1241	L	0.51914	1.62	0.09310	N	1	B	0.33549	0.417	P	0.48334	0.574	T	0.51132	-0.8744	10	0.54805	T	0.06	.	4.5498	0.12107	0.1114:0.5332:0.2079:0.1475	.	150	Q9H341	O51M1_HUMAN	M	161	ENSP00000333196:I161M	ENSP00000333196:I161M	I	+	3	3	OR51M1	5367687	0.000000	0.05858	0.253000	0.24343	0.392000	0.30506	-1.494000	0.02296	0.264000	0.21851	-0.797000	0.03246	ATC	OR51M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.542	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	C	NM_001004756		5411111	1	no_errors	ENST00000328611	ensembl	human	known	70_37	missense	SNP	0.000	G	G	5411111	C	G	5411111	3	3	185	1	0	0	0	0	1	0	0	0	11127	903	32	1	485	1	OR51M1	11	5411111	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	331134	5411111	129595405	864	35139										
TRIM5	85363	genome.wustl.edu	37	chr11	5701146	5701146	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgatcaactttctgcccctCtgggctcaacttgacctccc	6	16	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:5701146C>G	ENST00000380034.3	-	2	518	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	TRIM5_ENST00000380027.1_Missense_Mutation_p.E88Q|TRIM5_ENST00000305836.5_Missense_Mutation_p.E88Q|TRIM5_ENST00000396847.3_Missense_Mutation_p.E88Q|TRIM5_ENST00000396855.3_Missense_Mutation_p.E88Q|TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000396853.4_Missense_Mutation_p.E88Q	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	88					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTCTGCCCCTCTGGGCTCAAC	0.532																																																	0													159	144	149					11																	5701146		2201	4297	6498	SO:0001583	missense	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.262G>C	11.37:g.5701146C>G	ENSP00000369373:p.Glu88Gln		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E88Q	ENST00000380034.3	37	c.262	CCDS31393.1	11	.	.	.	.	.	.	.	.	.	.	C	8.334	0.827199	0.16749	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	4.07	1.17	0.20885	Zinc finger, RING/FYVE/PHD-type (1);	0.429389	0.19971	N	0.101988	T	0.62744	0.2453	M	0.80422	2.495	0.09310	N	1	P;B;D	0.56287	0.749;0.317;0.975	B;B;P	0.55161	0.281;0.205;0.77	T	0.55398	-0.8147	10	0.72032	D	0.01	.	7.8821	0.29629	0.0:0.7093:0.0:0.2907	.	88;88;88	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	Q	88	ENSP00000380064:E88Q;ENSP00000307031:E88Q;ENSP00000369373:E88Q;ENSP00000369366:E88Q;ENSP00000380058:E88Q;ENSP00000380062:E88Q;ENSP00000388031:E88Q	ENSP00000307031:E88Q	E	-	1	0	TRIM5	5657722	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.719000	0.04974	0.274000	0.22072	0.650000	0.86243	GAG	TRIM5	-	NULL		0.532	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	HGNC	protein_coding	OTTHUMT00000143360.3	C	NM_033034		5701146	-1	no_errors	ENST00000305836	ensembl	human	known	70_37	missense	SNP	0.135	G	G	5701146	C	G	5701146	3	3	185	1	0	0	0	0	1	0	0	0	16556	922	32	1	1486	1	TRIM5	11	5701146	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	290035	5701146	129305370	865	35140										
OR56B1	387748	genome.wustl.edu	37	chr11	5758467	5758467	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacttagactgaactcagctGaagctgcagccaaggccctg	10	12	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:5758467G>C	ENST00000317121.3	+	1	787	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GAACTCAGCTGAAGCTGCAGC	0.423																																																	0													135	129	131					11																	5758467		2201	4297	6498	SO:0001583	missense	387748			BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.721G>C	11.37:g.5758467G>C	ENSP00000322939:p.Glu241Gln		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E241Q	ENST00000317121.3	37	c.721	CCDS31395.1	11	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514400	0.44763	.	.	ENSG00000181023	ENST00000317121	T	0.00076	8.76	5.87	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.335138	0.21041	U	0.081164	T	0.00356	0.0011	M	0.68593	2.085	0.21984	N	0.999439	D	0.67145	0.996	D	0.68039	0.955	T	0.45687	-0.9244	10	0.87932	D	0	.	8.1113	0.30916	0.2437:0.0:0.7563:0.0	.	241	Q8NGI3	O56B1_HUMAN	Q	241	ENSP00000322939:E241Q	ENSP00000322939:E241Q	E	+	1	0	OR56B1	5715043	0.005000	0.15991	0.707000	0.30419	0.908000	0.53690	0.698000	0.25571	0.835000	0.34877	0.655000	0.94253	GAA	OR56B1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.423	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	HGNC	protein_coding	OTTHUMT00000143354.1	G	NM_001005180		5758467	1	no_errors	ENST00000317121	ensembl	human	known	70_37	missense	SNP	0.438	C	C	5758467	G	C	5758467	3	2	185	1	0	0	0	0	1	0	0	0	11161	1291	45	1	723	1	OR56B1	11	5758467	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	57321	5758467	129248049	866	35141										
OR56A4	120793	genome.wustl.edu	37	chr11	6024172	6024172	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggaagttggggaagcagatGaggaggaattcagagactgg	18	3	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6024172G>A	ENST00000330728.4	-	1	252	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGCAGATGAGGAGGAATT	0.527																																																	0													96	90	92					11																	6024172		2201	4296	6497	SO:0001819	synonymous_variant	120793			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.207C>T	11.37:g.6024172G>A			B9EH17	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L69	ENST00000330728.4	37	c.207	CCDS31404.1	11																																																																																			OR56A4	-	NULL		0.527	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A4	HGNC	protein_coding	OTTHUMT00000383756.2	G	NM_001005179		6024172	-1	no_errors	ENST00000330728	ensembl	human	known	70_37	silent	SNP	1.000	A	A	6024172	G	A	6024172	2	1	185	1	0	0	0	0	0	0	0	1	11159	1277	45	1		1	OR56A4	11	6024172	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	265705	6024172	128982344	867	35142										
OR56B4	196335	genome.wustl.edu	37	chr11	6129417	6129417	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tagccatctgtcgccctcttCagtacccctccatagtcact	5	17	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6129417C>T	ENST00000316529.3	+	1	504	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGCCCTCTTCAGTACCCCTC	0.488																																																	0													136	120	126					11																	6129417		2201	4296	6497	SO:0001587	stop_gained	196335			AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"GPCR / Class A : Olfactory receptors"	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.409C>T	11.37:g.6129417C>T	ENSP00000321196:p.Gln137*		Q6IFD7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.Q137*	ENST00000316529.3	37	c.409	CCDS31406.1	11	.	.	.	.	.	.	.	.	.	.	C	9.537	1.112416	0.20795	.	.	ENSG00000180919	ENST00000316529	.	.	.	4.06	2.12	0.27331	.	0.257379	0.19584	U	0.110794	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.5575	0.22468	0.4312:0.4789:0.0:0.0899	.	.	.	.	X	137	.	ENSP00000321196:Q137X	Q	+	1	0	OR56B4	6085993	0.000000	0.05858	0.020000	0.16555	0.006000	0.05464	-0.032000	0.12266	0.993000	0.38866	0.556000	0.70494	CAG	OR56B4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B4	HGNC	protein_coding	OTTHUMT00000384668.1	C	NM_001005181		6129417	1	no_errors	ENST00000316529	ensembl	human	known	70_37	nonsense	SNP	0.070	T	T	6129417	C	T	6129417	4	4	185	1	0	0	0	0	0	1	0	0	11162	827	29	1	411	1	OR56B4	11	6129417	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	105245	6129417	128877099	868	35143										
SMPD1	6609	genome.wustl.edu	37	chr11	6412747	6412747	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtggaggtgtggagacgctCagtgctgagcccatctgagg	18	8	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6412747C>G	ENST00000342245.4	+	2	620	c.452C>G	c.(451-453)tCa>tGa	p.S151*	SMPD1_ENST00000527275.1_Nonsense_Mutation_p.S150*|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Nonsense_Mutation_p.S151*|SMPD1_ENST00000299397.3_Nonsense_Mutation_p.S151*	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	149	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TGGAGACGCTCAGTGCTGAGC	0.562																																																	0													71	60	64					11																	6412747		2201	4296	6497	SO:0001587	stop_gained	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.452C>G	11.37:g.6412747C>G	ENSP00000340409:p.Ser151*		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Nonsense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.S151*	ENST00000342245.4	37	c.452	CCDS44531.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.403048	0.97537	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-6.0856	16.0297	0.80570	0.0:1.0:0.0:0.0	.	.	.	.	X	151;151;151;150	.	ENSP00000299397:S151X	S	+	2	0	SMPD1	6369323	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.025000	0.76449	2.382000	0.81193	0.650000	0.86243	TCA	SMPD1	-	superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB		0.562	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	C	NM_000543		6412747	1	no_errors	ENST00000342245	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	6412747	C	G	6412747	4	3	185	1	0	0	0	0	0	1	0	0	14834	838	29	1	458	1	SMPD1	11	6412747	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	283330	6412747	128593769	869	35144										
DNHD1	144132	genome.wustl.edu	37	chr11	6568297	6568297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagcccccaggagttcctggGatggctagagggctcctgct	14	13	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6568297G>A	ENST00000527990.2	+	19	6128	c.6128G>A	c.(6127-6129)gGa>gAa	p.G2043E	DNHD1_ENST00000254579.6_Missense_Mutation_p.G2043E			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2043					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GAGTTCCTGGGATGGCTAGAG	0.582																																																	0													44	50	48					11																	6568297		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.6128G>A	11.37:g.6568297G>A	ENSP00000436180:p.Gly2043Glu		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.G2043E	ENST00000527990.2	37	c.6128	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669637	0.67814	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.48836	0.8;0.8	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.73962	2.25	0.48511	D	0.999661	D	0.89917	1.0	D	0.91635	0.999	T	0.73525	-0.3955	10	0.87932	D	0	.	16.7006	0.85349	0.0:0.0:1.0:0.0	.	2043	Q96M86	DNHD1_HUMAN	E	2043;2043;334	ENSP00000254579:G2043E;ENSP00000436180:G2043E	ENSP00000254579:G2043E	G	+	2	0	DNHD1	6524873	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.175000	0.71949	2.477000	0.83638	0.655000	0.94253	GGA	DNHD1	-	NULL		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	G	NM_144666		6568297	1	no_errors	ENST00000254579	ensembl	human	known	70_37	missense	SNP	0.998	A	A	6568297	G	A	6568297	3	1	185	1	0	0	0	0	1	0	0	0	4678	1174	41	1	6211	1	DNHD1	11	6568297	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	155550	6568297	128438219	870	35145										
ILK	3611	genome.wustl.edu	37	chr11	6631824	6631824	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgattgtgcctatccttgaGaagatgcaggacaagtagga	12	6	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6631824G>A	ENST00000396751.2	+	12	1797	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	ILK_ENST00000537806.1_Silent_p.E313E|ILK_ENST00000420936.2_Silent_p.E447E|ILK_ENST00000299421.4_Silent_p.E447E|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000528995.1_Silent_p.E386E|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	447					branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTATCCTTGAGAAGATGCAGG	0.517																																																	0													85	87	86					11																	6631824		2201	4296	6497	SO:0001819	synonymous_variant	3611			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1341G>A	11.37:g.6631824G>A			B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E447	ENST00000396751.2	37	c.1341	CCDS7768.1	11																																																																																			ILK	-	superfamily_Kinase-like_dom,pirsf_Integrin-linked_kinase		0.517	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1	G	NM_004517		6631824	1	no_errors	ENST00000299421	ensembl	human	known	70_37	silent	SNP	0.999	A	A	6631824	G	A	6631824	2	1	185	1	0	0	0	0	0	0	0	1	7733	933	33	1		1	ILK	11	6631824	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	63527	6631824	128374692	871	35146										
DCHS1	8642	genome.wustl.edu	37	chr11	6643101	6643101	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctgggccaccccaaatggtGagacaacgggtgagcgagca	14	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:6643101G>C	ENST00000299441.3	-	21	10217	c.9806C>G	c.(9805-9807)tCa>tGa	p.S3269*	TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000528657.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3269					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCAAATGGTGAGACAACGGG	0.637																																																	0													47	42	43					11																	6643101		2201	4296	6497	SO:0001587	stop_gained	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9806C>G	11.37:g.6643101G>C	ENSP00000299441:p.Ser3269*		O15098	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S3269*	ENST00000299441.3	37	c.9806	CCDS7771.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	19.724555|19.724555	0.99923|0.99923	.|.	.|.	ENSG00000166341|ENSG00000166341	ENST00000442153|ENST00000299441	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.36134	.|N	.|0.002766	T|.	0.76506|.	0.3997|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79417|.	-0.1812|.	5|.	0.87932|0.72032	D|D	0|0.01	.|.	17.0523|17.0523	0.86523|0.86523	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	29|3269	.|.	ENSP00000390601:H29D|ENSP00000299441:S3269X	H|S	-|-	1|2	0|0	DCHS1|DCHS1	6599677|6599677	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.986000|0.986000	0.74619|0.74619	9.604000|9.604000	0.98317|0.98317	2.595000|2.595000	0.87683|0.87683	0.462000|0.462000	0.41574|0.41574	CAC|TCA	DCHS1	-	NULL		0.637	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6643101	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	6643101	G	C	6643101	4	2	185	1	0	0	0	0	0	1	0	0	4292	1294	45	1	94	1	DCHS1	11	6643101	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11277	6643101	128363415	872	35147										
ST5	6764	genome.wustl.edu	37	chr11	8718158	8718158	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agggagtagtgcccaacggtCtccacaaagaaccggataaa	11	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:8718158C>T	ENST00000534127.1	-	21	3493	c.3108G>A	c.(3106-3108)gaG>gaA	p.E1036E	RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Silent_p.E616E|ST5_ENST00000526099.1_Silent_p.E549E|ST5_ENST00000526757.1_Silent_p.E616E|ST5_ENST00000530991.1_Silent_p.E508E|ST5_ENST00000357665.1_Silent_p.E1036E|ST5_ENST00000313726.6_Silent_p.E1036E|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000534278.1_Silent_p.E227E	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1036	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCCCAACGGTCTCCACAAAGA	0.522																																																	0													152	169	163					11																	8718158		2201	4296	6497	SO:0001819	synonymous_variant	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3108G>A	11.37:g.8718158C>T			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1036	ENST00000534127.1	37	c.3108	CCDS7791.1	11																																																																																			ST5	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.522	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	C	NM_005418		8718158	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	silent	SNP	1.000	T	T	8718158	C	T	8718158	2	4	185	1	0	0	0	0	0	0	0	1	15250	912	32	1		1	ST5	11	8718158	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2075057	8718158	126288358	873	35148										
C11orf17	56672	genome.wustl.edu	37	chr11	8934037	8934037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacccttagtgcttccttcaGaacaatggctgaattcatgg	8	10	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:8934037G>C	ENST00000309377.4	+	3	350	c.260G>C	c.(259-261)aGa>aCa	p.R87T	AKIP1_ENST00000529876.1_Intron|AKIP1_ENST00000299576.5_Intron|AKIP1_ENST00000396648.2_Intron|AKIP1_ENST00000534147.1_Missense_Mutation_p.R87T|AKIP1_ENST00000534506.1_Intron|AKIP1_ENST00000525005.1_Missense_Mutation_p.R87T|AKIP1_ENST00000309357.4_Missense_Mutation_p.R87T|ST5_ENST00000534127.1_5'Flank	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	87					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(2)	5						GCTTCCTTCAGAACAATGGCT	0.458																																																	0													119	105	110					11																	8934037		2201	4296	6497	SO:0001583	missense	56672			AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"chromosome 11 open reading frame 17"	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.260G>C	11.37:g.8934037G>C	ENSP00000310459:p.Arg87Thr		Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Missense_Mutation	SNP	NULL	p.R87T	ENST00000309377.4	37	c.260	CCDS7793.1	11	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037542	0.54896	.	.	ENSG00000166452	ENST00000309377;ENST00000309357;ENST00000525005;ENST00000524577;ENST00000534147	T;T;T;T;T	0.33438	1.49;1.5;1.41;1.42;1.49	5.21	2.14	0.27477	.	0.342605	0.29066	N	0.013255	T	0.42471	0.1204	M	0.68317	2.08	0.22737	N	0.998799	D;P;D	0.76494	0.999;0.844;0.989	D;P;P	0.66351	0.943;0.528;0.836	T	0.11616	-1.0580	10	0.33940	T	0.23	-4.889	4.3807	0.11293	0.1996:0.189:0.6114:0.0	.	87;87;87	B4DGE2;Q9NQ31-2;Q9NQ31	.;.;AKIP1_HUMAN	T	87	ENSP00000310459:R87T;ENSP00000310644:R87T;ENSP00000433510:R87T;ENSP00000434785:R87T;ENSP00000431331:R87T	ENSP00000310644:R87T	R	+	2	0	AKIP1	8890613	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.546000	0.23284	1.336000	0.45506	0.563000	0.77884	AGA	AKIP1	-	NULL		0.458	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKIP1	HGNC	protein_coding	OTTHUMT00000385615.1	G	NM_020642		8934037	1	no_errors	ENST00000309377	ensembl	human	known	70_37	missense	SNP	0.997	C	C	8934037	G	C	8934037	3	2	185	1	0	0	0	0	1	0	0	0	1636	942	33	1	266	1	C11orf17	11	8934037	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	215879	8934037	126072479	874	35149										
TMEM9B	56674	genome.wustl.edu	37	chr11	8969995	8969995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcgggagcgggctagcacatCgtgtgcatttgcaaaaggct	15	9	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:8969995C>T	ENST00000534025.1	-	5	928	c.469G>A	c.(469-471)Gat>Aat	p.D157N	TMEM9B_ENST00000309134.5_Missense_Mutation_p.D83N|TMEM9B_ENST00000525069.1_Missense_Mutation_p.D83N	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	157					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		GCTAGCACATCGTGTGCATTT	0.498																																																	0													91	83	85					11																	8969995		2201	4296	6497	SO:0001583	missense	56674			AJ400877	CCDS7796.1, CCDS66021.1	11p15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000175348	ENSG00000175348			1168	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 15"	C11orf15		11528127	Standard	NM_001286095		Approved		uc001mhe.1	Q9NQ34	OTTHUMG00000165676	ENST00000534025.1:c.469G>A	11.37:g.8969995C>T	ENSP00000433361:p.Asp157Asn		Q7Z649	Missense_Mutation	SNP	pfam_TMEM9	p.D157N	ENST00000534025.1	37	c.469	CCDS7796.1	11	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890906	0.52014	.	.	ENSG00000175348	ENST00000309134;ENST00000534025;ENST00000525069	.	.	.	5.86	5.86	0.93980	.	0.053464	0.85682	D	0.000000	T	0.40171	0.1106	N	0.11255	0.115	0.80722	D	1	B	0.21452	0.056	B	0.17979	0.02	T	0.24404	-1.0161	9	0.17832	T	0.49	.	18.3607	0.90374	0.0:1.0:0.0:0.0	.	157	Q9NQ34	TMM9B_HUMAN	N	83;157;83	.	ENSP00000311842:D83N	D	-	1	0	TMEM9B	8926571	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	5.324000	0.65863	2.777000	0.95525	0.655000	0.94253	GAT	TMEM9B	-	pfam_TMEM9		0.498	TMEM9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM9B	HGNC	protein_coding	OTTHUMT00000385722.1	C			8969995	-1	no_errors	ENST00000534025	ensembl	human	known	70_37	missense	SNP	0.998	T	T	8969995	C	T	8969995	3	4	185	1	0	0	0	0	1	0	0	0	16257	884	31	1	131	1	TMEM9B	11	8969995	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	35958	8969995	126036521	875	35150										
USP47	55031	genome.wustl.edu	37	chr11	11924287	11924287	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatttgaagaatctgaagaaGatccagtgacaagtattcca	8	6	1	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:11924287G>C	ENST00000399455.2	+	7	799	c.679G>C	c.(679-681)Gat>Cat	p.D227H	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.D139H|USP47_ENST00000527733.1_Missense_Mutation_p.D207H	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	227	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ATCTGAAGAAGATCCAGTGAC	0.274																																																	0													85	78	80					11																	11924287		1790	4058	5848	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.679G>C	11.37:g.11924287G>C	ENSP00000382382:p.Asp227His		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.D227H	ENST00000399455.2	37	c.679		11	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402474	0.83230	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	T;T;T	0.30448	1.53;1.53;1.53	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	M	0.64080	1.96	0.80722	D	1	D;D	0.65815	0.995;0.994	D;D	0.72982	0.979;0.964	T	0.53308	-0.8457	10	0.52906	T	0.07	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	207;139	E9PM46;Q96K76-2	.;.	H	139;207;227;227	ENSP00000339957:D139H;ENSP00000433146:D207H;ENSP00000382382:D227H	ENSP00000339957:D139H	D	+	1	0	USP47	11880863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.534000	0.85438	0.555000	0.69702	GAT	USP47	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.274	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	G	NM_017944		11924287	1	no_errors	ENST00000399455	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11924287	G	C	11924287	3	2	185	1	0	0	0	0	1	0	0	0	17109	942	33	1	433	1	USP47	11	11924287	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2954292	11924287	123082229	876	35151										
CYP2R1	120227	genome.wustl.edu	37	chr11	14901774	14901774	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caatgatgagttcacccactGagaaaattaggttttctttg	8	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:14901774G>A	ENST00000334636.5	-	3	954	c.908C>T	c.(907-909)tCa>tTa	p.S303L	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Missense_Mutation_p.S70L	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	303					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TTCACCCACTGAGAAAATTAG	0.403																																					NSCLC(173;1584 2058 26117 29365 41534)												0													62	60	61					11																	14901774		2200	4293	6493	SO:0001583	missense	120227			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"Cytochrome P450s"	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.908C>T	11.37:g.14901774G>A	ENSP00000334592:p.Ser303Leu		Q2M3H3|Q5RT65	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S303L	ENST00000334636.5	37	c.908	CCDS7818.1	11	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062155	0.55432	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	T;T	0.67698	-0.28;-0.28	6.17	6.17	0.99709	.	0.057238	0.64402	D	0.000001	T	0.75064	0.3799	L	0.28504	0.86	0.80722	D	1	D;B;B	0.89917	1.0;0.229;0.017	D;B;B	0.75484	0.986;0.133;0.045	T	0.70568	-0.4836	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	188;303;70	E9PS56;Q6VVX0;E9PJT9	.;CP2R1_HUMAN;.	L	70;303	ENSP00000435484:S70L;ENSP00000334592:S303L	ENSP00000334592:S303L	S	-	2	0	CYP2R1	14858350	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	TCA	CYP2R1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.403	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2R1	HGNC	protein_coding	OTTHUMT00000386985.1	G	NM_024514		14901774	-1	no_errors	ENST00000334636	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14901774	G	A	14901774	3	1	185	1	0	0	0	0	1	0	0	0	4178	1294	45	1	609	1	CYP2R1	11	14901774	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2977487	14901774	120104742	877	35152										
LDHC	3948	genome.wustl.edu	37	chr11	18451395	18451395	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taatgtggctataatgaaatCaatcattcctgccatagtcc	6	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:18451395C>T	ENST00000541669.1	+	4	467	c.356C>T	c.(355-357)tCa>tTa	p.S119L	LDHC_ENST00000546146.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.S119L|LDHC_ENST00000536880.1_Missense_Mutation_p.S105L|LDHC_ENST00000544105.1_Missense_Mutation_p.S119L|LDHC_ENST00000280704.4_Missense_Mutation_p.S119L|LDHC_ENST00000537486.1_Missense_Mutation_p.S119L			P07864	LDHC_HUMAN	lactate dehydrogenase C	119				S -> I (in Ref. 1; AAA59507). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATAATGAAATCAATCATTCCT	0.423																																																	0													140	125	130					11																	18451395		2199	4293	6492	SO:0001583	missense	3948			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"cancer/testis antigen 32"	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.356C>T	11.37:g.18451395C>T	ENSP00000437783:p.Ser119Leu		D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.S119L	ENST00000541669.1	37	c.356	CCDS7840.1	11	.	.	.	.	.	.	.	.	.	.	C	4.569	0.105731	0.08780	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000536880;ENST00000537486;ENST00000544105;ENST00000535809	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.67	1.57	0.23409	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.338514	0.28338	N	0.015718	T	0.81054	0.4743	L	0.52364	1.645	0.23016	N	0.998429	B;B;B	0.33171	0.4;0.024;0.0	B;B;B	0.30855	0.121;0.012;0.005	T	0.65261	-0.6211	10	0.15952	T	0.53	-1.1164	7.0431	0.25031	0.0:0.4763:0.0:0.5237	.	119;119;119	F5H155;G3XAP5;P07864	.;.;LDHC_HUMAN	L	119;119;105;119;119;119	ENSP00000437783:S119L;ENSP00000280704:S119L;ENSP00000439555:S105L;ENSP00000441478:S119L;ENSP00000439060:S119L;ENSP00000443997:S119L	ENSP00000280704:S119L	S	+	2	0	LDHC	18407971	0.130000	0.22417	0.990000	0.47175	0.002000	0.02628	0.151000	0.16283	0.533000	0.28675	-0.258000	0.10820	TCA	LDHC	-	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.423	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	HGNC	protein_coding	OTTHUMT00000395892.1	C	NM_017448		18451395	1	no_errors	ENST00000280704	ensembl	human	known	70_37	missense	SNP	0.989	T	T	18451395	C	T	18451395	3	4	185	1	0	0	0	0	1	0	0	0	8722	838	29	1	366	1	LDHC	11	18451395	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3549621	18451395	116555121	878	35153										
ANO5	203859	genome.wustl.edu	37	chr11	22296234	22296234	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatagcctgtcagtattcctGatagctgattttccaaacca	6	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:22296234G>A	ENST00000324559.8	+	20	2672	c.2355G>A	c.(2353-2355)ctG>ctA	p.L785L	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	785					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTATTCCTGATAGCTGATT	0.403																																																	0													125	103	110					11																	22296234		2203	4300	6503	SO:0001819	synonymous_variant	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2355G>A	11.37:g.22296234G>A				Silent	SNP	pfam_Anoctamin	p.L785	ENST00000324559.8	37	c.2355	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin		0.403	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	G	NM_213599		22296234	1	no_errors	ENST00000324559	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22296234	G	A	22296234	2	1	185	1	0	0	0	0	0	0	0	1	700	1277	45	1		1	ANO5	11	22296234	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3844839	22296234	112710282	879	35154										
SLC5A12	159963	genome.wustl.edu	37	chr11	26732861	26732861	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgataactcaccttgattGagtgccagggcaggagcata	12	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:26732861G>A	ENST00000396005.3	-	3	759	c.450C>T	c.(448-450)ctC>ctT	p.L150L	SLC5A12_ENST00000280467.6_Silent_p.L150L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	150					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CACCTTGATTGAGTGCCAGGG	0.408																																																	0													84	76	78					11																	26732861		2203	4299	6502	SO:0001819	synonymous_variant	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.450C>T	11.37:g.26732861G>A			Q86UC7	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L150	ENST00000396005.3	37	c.450	CCDS7860.2	11																																																																																			SLC5A12	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.408	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	G	NM_178498		26732861	-1	no_errors	ENST00000396005	ensembl	human	known	70_37	silent	SNP	1.000	A	A	26732861	G	A	26732861	2	1	185	1	0	0	0	0	0	0	0	1	14694	1277	45	1		1	SLC5A12	11	26732861	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4436627	26732861	108273655	880	35155										
CSTF3	1479	genome.wustl.edu	37	chr11	33112139	33112139	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ataaatccatgaacttgtatCtatctactagtaaagccgtt	5	8	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:33112139C>G	ENST00000323959.4	-	17	1719	c.1580G>C	c.(1579-1581)aGa>aCa	p.R527T	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	527					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GAACTTGTATCTATCTACTAG	0.363																																																	0													170	161	164					11																	33112139		2202	4297	6499	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1580G>C	11.37:g.33112139C>G	ENSP00000315791:p.Arg527Thr		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.R527T	ENST00000323959.4	37	c.1580	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295938	0.81025	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.52057	0.68	5.67	4.76	0.60689	Suppressor of forked (1);	0.040720	0.85682	D	0.000000	T	0.76097	0.3940	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82993	-0.0181	10	0.66056	D	0.02	.	14.7718	0.69684	0.0:0.9305:0.0:0.0695	.	527	Q12996	CSTF3_HUMAN	T	527;460	ENSP00000315791:R527T	ENSP00000315791:R527T	R	-	2	0	CSTF3	33068715	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.742000	0.85008	1.398000	0.46701	0.650000	0.86243	AGA	CSTF3	-	pfam_Suf		0.363	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	C	NM_001326		33112139	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33112139	C	G	33112139	3	3	185	1	0	0	0	0	1	0	0	0	3991	913	32	1	593	1	CSTF3	11	33112139	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6379278	33112139	101894377	881	35156										
CSTF3	1479	genome.wustl.edu	37	chr11	33113860	33113860	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccagatgttaaaactcgttCaaacaaaactcgggtattat	6	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:33113860C>G	ENST00000323959.4	-	16	1541	c.1402G>C	c.(1402-1404)Gaa>Caa	p.E468Q	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	468					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AAAACTCGTTCAAACAAAACT	0.333																																																	0													111	115	114					11																	33113860		2202	4298	6500	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1402G>C	11.37:g.33113860C>G	ENSP00000315791:p.Glu468Gln		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.E468Q	ENST00000323959.4	37	c.1402	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761760	0.89932	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.46063	0.88	6.07	5.16	0.70880	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75897	-0.3155	10	0.66056	D	0.02	.	15.5017	0.75703	0.0:0.9339:0.0:0.0661	.	468	Q12996	CSTF3_HUMAN	Q	468;401	ENSP00000315791:E468Q	ENSP00000315791:E468Q	E	-	1	0	CSTF3	33070436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.810000	0.86072	1.585000	0.49928	0.585000	0.79938	GAA	CSTF3	-	pfam_Suf,smart_HAT		0.333	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	C	NM_001326		33113860	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33113860	C	G	33113860	3	3	185	1	0	0	0	0	1	0	0	0	3991	835	29	1	775	1	CSTF3	11	33113860	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1721	33113860	101892656	882	35157										
CSTF3	1479	genome.wustl.edu	37	chr11	33113887	33113887	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aactcgggtattattgtcctCtaggatattgaaaaagattt	8	5	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:33113887C>T	ENST00000323959.4	-	16	1515		c.e16-1		TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TTATTGTCCTCTAGGATATTG	0.338																																																	0													85	89	87					11																	33113887		2202	4298	6500	SO:0001630	splice_region_variant	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1376-1G>A	11.37:g.33113887C>T			A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Splice_Site	SNP	-	e16-1	ENST00000323959.4	37	c.1376-1	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295994	0.81025	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2308	0.73386	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSTF3	33070463	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.609000	0.82925	2.746000	0.94184	0.460000	0.39030	.	CSTF3	-	-		0.338	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	C	NM_001326	Intron	33113887	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	33113887	C	T	33113887	5	4	185	1	0	0	0	0	0	0	1	0	3991	927	32	1	802	1	CSTF3	11	33113887	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	27	33113887	101892629	883	35158										
CAPRIN1	4076	genome.wustl.edu	37	chr11	34097834	34097834	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggagcagcttatgagagaaGaagctgaacagaaacgttta	13	5	0	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:34097834G>C	ENST00000341394.4	+	5	607	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.E59Q|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.E140Q|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.E140Q|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.E140Q	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	140					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TATGAGAGAAGAAGCTGAACA	0.353																																																	0													92	92	92					11																	34097834		2202	4298	6500	SO:0001583	missense	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.418G>C	11.37:g.34097834G>C	ENSP00000340329:p.Glu140Gln		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.E140Q	ENST00000341394.4	37	c.418	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.227917	0.95173	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.06534	-1.0821	10	0.35671	T	0.21	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	140;140	Q14444;Q14444-2	CAPR1_HUMAN;.	Q	140;140;140;140;140;59	ENSP00000340329:E140Q;ENSP00000374296:E140Q;ENSP00000431373:E140Q;ENSP00000434150:E140Q;ENSP00000434204:E140Q;ENSP00000431581:E59Q	ENSP00000340329:E140Q	E	+	1	0	CAPRIN1	34054410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.393000	0.79851	2.775000	0.95449	0.655000	0.94253	GAA	CAPRIN1	-	NULL		0.353	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	G	NM_005898		34097834	1	no_errors	ENST00000341394	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34097834	G	C	34097834	3	2	185	1	0	0	0	0	1	0	0	0	2640	943	33	1	432	1	CAPRIN1	11	34097834	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	983947	34097834	100908682	884	35159										
CAPRIN1	4076	genome.wustl.edu	37	chr11	34119297	34119297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggcagagtggaccacgggGagccccacgaggtaatattt	15	9	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:34119297G>A	ENST00000341394.4	+	18	2243	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.G604E|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.G685E|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.G685E|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.G685E	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	685					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGACCACGGGGAGCCCCACGA	0.443																																																	0													98	100	99					11																	34119297		2202	4298	6500	SO:0001583	missense	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.2054G>A	11.37:g.34119297G>A	ENSP00000340329:p.Gly685Glu		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.G685E	ENST00000341394.4	37	c.2054	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119225	0.56505	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.21191	2.15;2.02;2.15;2.02;2.16	5.36	4.43	0.53597	.	0.268449	0.30979	N	0.008487	T	0.28532	0.0706	L	0.29908	0.895	0.51233	D	0.999917	D;D	0.67145	0.961;0.996	P;P	0.62298	0.617;0.9	T	0.01702	-1.1292	10	0.37606	T	0.19	.	10.9431	0.47285	0.0:0.141:0.7125:0.1465	.	685;685	Q14444;Q14444-2	CAPR1_HUMAN;.	E	685;685;685;685;604	ENSP00000340329:G685E;ENSP00000374296:G685E;ENSP00000434150:G685E;ENSP00000434204:G685E;ENSP00000431581:G604E	ENSP00000340329:G685E	G	+	2	0	CAPRIN1	34075873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.040000	0.70980	1.206000	0.43276	0.563000	0.77884	GGA	CAPRIN1	-	NULL		0.443	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	G	NM_005898		34119297	1	no_errors	ENST00000341394	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34119297	G	A	34119297	3	1	185	1	0	0	0	0	1	0	0	0	2640	1174	41	1	2120	1	CAPRIN1	11	34119297	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	21463	34119297	100887219	885	35160										
ABTB2	25841	genome.wustl.edu	37	chr11	34378318	34378318	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagagctcggcgtcgttgttGatgaccatctccagggcctc	12	13	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:34378318G>C	ENST00000435224.2	-	1	1237	c.813C>G	c.(811-813)atC>atG	p.I271M	ABTB2_ENST00000298992.2_Missense_Mutation_p.I85M	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	271					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CGTCGTTGTTGATGACCATCT	0.657																																																	0													26	27	27					11																	34378318		2202	4298	6500	SO:0001583	missense	25841			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.813C>G	11.37:g.34378318G>C	ENSP00000410157:p.Ile271Met		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.I271M	ENST00000435224.2	37	c.813	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992574	0.54041	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.66815	-0.23;-0.23	4.96	4.04	0.47022	Histone-fold (2);	0.136051	0.50627	D	0.000118	T	0.69079	0.3071	M	0.68317	2.08	0.50632	D	0.999885	P	0.45902	0.868	P	0.48030	0.564	T	0.70263	-0.4920	10	0.39692	T	0.17	-12.1423	12.6874	0.56956	0.0809:0.0:0.9191:0.0	.	85	Q8N961	ABTB2_HUMAN	M	271;85	ENSP00000410157:I271M;ENSP00000298992:I85M	ENSP00000298992:I85M	I	-	3	3	ABTB2	34334894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.845000	0.55880	2.296000	0.77279	0.455000	0.32223	ATC	ABTB2	-	superfamily_Histone-fold		0.657	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	G	NM_145804		34378318	-1	no_errors	ENST00000435224	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34378318	G	C	34378318	3	2	185	1	0	0	0	0	1	0	0	0	103	1280	45	1	2332	1	ABTB2	11	34378318	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	259021	34378318	100628198	886	35161										
TTC17	55761	genome.wustl.edu	37	chr11	43411241	43411241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaattcacatagaagagaatGaggacagagacacaggactg	11	6	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:43411241G>C	ENST00000039989.4	+	3	303	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	TTC17_ENST00000299240.6_Missense_Mutation_p.E97Q|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	97					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGAAGAGAATGAGGACAGAGA	0.393																																																	0													118	111	113					11																	43411241		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.289G>C	11.37:g.43411241G>C	ENSP00000039989:p.Glu97Gln		G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E97Q	ENST00000039989.4	37	c.289	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613191	0.87359	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.35789	1.29;1.32	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.991;0.999	T	0.56792	-0.7920	10	0.44086	T	0.13	-17.4571	18.3743	0.90430	0.0:0.0:1.0:0.0	.	97;97;97	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Q	97	ENSP00000299240:E97Q;ENSP00000039989:E97Q	ENSP00000039989:E97Q	E	+	1	0	TTC17	43367817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.400000	0.81607	0.563000	0.77884	GAG	TTC17	-	NULL		0.393	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	G	NM_018259		43411241	1	no_errors	ENST00000039989	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43411241	G	C	43411241	3	2	185	1	0	0	0	0	1	0	0	0	16715	1291	45	1	299	1	TTC17	11	43411241	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9032923	43411241	91595275	887	35162										
CHRM4	1132	genome.wustl.edu	37	chr11	46407230	46407230	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcctgagctggactcattgGaagtgtccttatcagccacg	11	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:46407230G>C	ENST00000433765.2	-	1	877	c.878C>G	c.(877-879)tCc>tGc	p.S293C		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	293					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGACTCATTGGAAGTGTCCTT	0.701																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)												0													35	42	40					11																	46407230		2101	4211	6312	SO:0001583	missense	1132			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.878C>G	11.37:g.46407230G>C	ENSP00000409378:p.Ser293Cys		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt,prints_GPCR_Rhodpsn,prints_Musac_M4_rcpt	p.S293C	ENST00000433765.2	37	c.878	CCDS44581.1	11	.	.	.	.	.	.	.	.	.	.	g	14.84	2.654841	0.47467	.	.	ENSG00000180720	ENST00000433765	T	0.61274	0.12	4.09	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.71221	0.3314	M	0.80332	2.49	0.51233	D	0.999916	P	0.47253	0.892	P	0.57620	0.824	T	0.73582	-0.3937	9	0.56958	D	0.05	-14.1803	11.5234	0.50565	0.0881:0.0:0.9119:0.0	.	293	P08173	ACM4_HUMAN	C	293	ENSP00000409378:S293C	ENSP00000409378:S293C	S	-	2	0	CHRM4	46363806	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.622000	0.98378	0.928000	0.37168	0.457000	0.33378	TCC	CHRM4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M4_rcpt		0.701	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	HGNC	protein_coding	OTTHUMT00000334985.1	G	NM_000741		46407230	-1	no_errors	ENST00000433765	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46407230	G	C	46407230	3	2	185	1	0	0	0	0	1	0	0	0	3384	1174	41	1	565	1	CHRM4	11	46407230	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2995989	46407230	88599286	888	35163										
ZNF408	79797	genome.wustl.edu	37	chr11	46726060	46726060	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaatgcccggcccaggcacaGatgccacctgaacttcagag	11	14	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:46726060G>A	ENST00000311764.2	+	5	1040	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCAGGCACAGATGCCACCTG	0.582																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													76	62	67					11																	46726060		2201	4299	6500	SO:0001819	synonymous_variant	79797			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.810G>A	11.37:g.46726060G>A				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q270	ENST00000311764.2	37	c.810	CCDS7923.1	11																																																																																			ZNF408	-	NULL		0.582	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	G	NM_024741		46726060	1	no_errors	ENST00000311764	ensembl	human	known	70_37	silent	SNP	0.674	A	A	46726060	G	A	46726060	2	1	185	1	0	0	0	0	0	0	0	1	17918	933	33	1		1	ZNF408	11	46726060	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	318830	46726060	88280456	889	35164										
CKAP5	9793	genome.wustl.edu	37	chr11	46806154	46806154	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaggccatctaatacaacctGagctgacgttttggaaaaat	8	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:46806154G>A	ENST00000529230.1	-	17	2084	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	CKAP5_ENST00000354558.3_Nonsense_Mutation_p.Q680*|CKAP5_ENST00000312055.5_Nonsense_Mutation_p.Q680*|CKAP5_ENST00000415402.1_Nonsense_Mutation_p.Q680*			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	680					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AATACAACCTGAGCTGACGTT	0.408																																					Ovarian(4;85 273 2202 4844 13323)												0													190	182	185					11																	46806154		2201	4299	6500	SO:0001587	stop_gained	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2038C>T	11.37:g.46806154G>A	ENSP00000432768:p.Gln680*		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Nonsense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q680*	ENST00000529230.1	37	c.2038	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.690811	0.98434	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	.	.	.	5.48	5.48	0.80851	.	0.582461	0.19690	N	0.108285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-18.2445	12.6613	0.56815	0.0755:0.0:0.9245:0.0	.	.	.	.	X	680	.	ENSP00000310227:Q680X	Q	-	1	0	CKAP5	46762730	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.162000	0.50755	2.570000	0.86706	0.563000	0.77884	CAG	CKAP5	-	superfamily_ARM-type_fold		0.408	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	G	NM_014756		46806154	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	46806154	G	A	46806154	4	1	185	1	0	0	0	0	0	1	0	0	3450	1299	45	1	4172	1	CKAP5	11	46806154	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	80094	46806154	88200362	890	35165										
DDB2	1643	genome.wustl.edu	37	chr11	47256436	47256436	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacctgcgccaggttagaggGaaagccagcttcctctactc	11	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:47256436G>T	ENST00000256996.4	+	6	1026	c.831G>T	c.(829-831)ggG>ggT	p.G277G	DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.G213G	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	277					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						AGGTTAGAGGGAAAGCCAGCT	0.562			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	0													47	46	47					11																	47256436		2201	4298	6499	SO:0001819	synonymous_variant	1643	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"WD repeat domain containing"	2718	protein-coding gene	gene with protein product	"xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit"	600811	"damage-specific DNA binding protein 2 (48kD)"			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.831G>T	11.37:g.47256436G>T			B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G277	ENST00000256996.4	37	c.831	CCDS7927.1	11																																																																																			DDB2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.562	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DDB2	HGNC	protein_coding		G	NM_000107		47256436	1	no_errors	ENST00000256996	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47256436	G	T	47256436	2	4	185	1	0	0	0	0	0	0	0	1	4329	1161	41	3		3	DDB2	11	47256436	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	450282	47256436	87750080	891	35166										
MADD	8567	genome.wustl.edu	37	chr11	47345231	47345231	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacttctccaggtgtgcgatGactgtgtggtgttgcgtagt	14	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:47345231G>A	ENST00000311027.5	+	31	4552	c.4387G>A	c.(4387-4389)Gac>Aac	p.D1463N	MADD_ENST00000395344.3_Missense_Mutation_p.D1357N|MADD_ENST00000402799.1_Missense_Mutation_p.D1361N|MADD_ENST00000406482.1_Missense_Mutation_p.D1361N|MADD_ENST00000342922.4_Missense_Mutation_p.D1404N|MADD_ENST00000402192.2_Missense_Mutation_p.D1403N|MADD_ENST00000407859.3_Missense_Mutation_p.D1381N|MADD_ENST00000405573.2_Missense_Mutation_p.D273N|MADD_ENST00000349238.3_Missense_Mutation_p.D1424N|MADD_ENST00000395336.3_Missense_Mutation_p.D1463N	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGTGTGCGATGACTGTGTGGT	0.532																																																	0													202	147	166					11																	47345231		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4387G>A	11.37:g.47345231G>A	ENSP00000310933:p.Asp1463Asn			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D1463N	ENST00000311027.5	37	c.4387	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.531513	0.96446	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.58358	2.75;2.62;2.65;2.73;2.78;2.61;2.62;2.8;2.75;0.34	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0;1.0;0.998;0.999;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999;0.999;0.999;0.998;0.998;0.996;0.998	T	0.74466	-0.3656	10	0.87932	D	0	-20.5773	19.903	0.96995	0.0:0.0:1.0:0.0	.	273;1357;1357;1463;1361;1361;1361;1424;1381;1463;1404	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	N	1404;1361;1361;1361;1424;1463;1381;1357;1463;1403;273	ENSP00000343902:D1404N;ENSP00000385585:D1361N;ENSP00000384435:D1361N;ENSP00000304505:D1424N;ENSP00000310933:D1463N;ENSP00000384204:D1381N;ENSP00000378753:D1357N;ENSP00000378745:D1463N;ENSP00000384287:D1403N;ENSP00000384483:D273N	ENSP00000310933:D1463N	D	+	1	0	MADD	47301807	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	8.947000	0.93000	2.705000	0.92388	0.549000	0.68633	GAC	MADD	-	NULL		0.532	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47345231	1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47345231	G	A	47345231	3	1	185	1	0	0	0	0	1	0	0	0	9175	1290	45	1	4505	1	MADD	11	47345231	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	88795	47345231	87661285	892	35167										
FNBP4	23360	genome.wustl.edu	37	chr11	47765561	47765561	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tactagaactcctactggtaGattctggactggtagctcga	10	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:47765561G>C	ENST00000263773.5	-	8	1412	c.1400C>G	c.(1399-1401)tCt>tGt	p.S467C	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	467						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTACTGGTAGATTCTGGACT	0.403																																																	0													150	134	139					11																	47765561		1888	4113	6001	SO:0001583	missense	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1400C>G	11.37:g.47765561G>C	ENSP00000263773:p.Ser467Cys		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S467C	ENST00000263773.5	37	c.1400	CCDS41644.1	11	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825974	0.90955	.	.	ENSG00000109920	ENST00000263773	T	0.44881	0.91	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.48969	-0.8987	10	0.35671	T	0.21	-14.1064	20.1338	0.98010	0.0:0.0:1.0:0.0	.	467	Q8N3X1	FNBP4_HUMAN	C	467	ENSP00000263773:S467C	ENSP00000263773:S467C	S	-	2	0	FNBP4	47722137	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.864000	0.92294	2.770000	0.95276	0.655000	0.94253	TCT	FNBP4	-	NULL		0.403	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	G			47765561	-1	no_errors	ENST00000263773	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47765561	G	C	47765561	3	2	185	1	0	0	0	0	1	0	0	0	5985	942	33	1	1693	1	FNBP4	11	47765561	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	420330	47765561	87240955	893	35168										
PTPRJ	5795	genome.wustl.edu	37	chr11	48157793	48157793	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accttatataacatcaccatCtctccagaagtggaccacgt	5	13	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:48157793C>G	ENST00000418331.2	+	9	2170	c.1818C>G	c.(1816-1818)atC>atG	p.I606M		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	606	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATCACCATCTCTCCAGAAG	0.507																																																	0													112	112	112					11																	48157793		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1818C>G	11.37:g.48157793C>G	ENSP00000400010:p.Ile606Met		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.I606M	ENST00000418331.2	37	c.1818	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017133	0.54576	.	.	ENSG00000149177	ENST00000418331	T	0.61040	0.14	5.85	4.94	0.65067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71500	0.3347	M	0.68952	2.095	0.47441	D	0.999426	D	0.61697	0.99	D	0.70935	0.971	T	0.74109	-0.3771	9	0.72032	D	0.01	.	10.9309	0.47217	0.0:0.9139:0.0:0.0861	.	606	Q12913	PTPRJ_HUMAN	M	606	ENSP00000400010:I606M	ENSP00000400010:I606M	I	+	3	3	PTPRJ	48114369	0.366000	0.25014	0.028000	0.17463	0.027000	0.11550	1.594000	0.36697	1.478000	0.48253	0.650000	0.86243	ATC	PTPRJ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	C			48157793	1	no_errors	ENST00000418331	ensembl	human	known	70_37	missense	SNP	0.144	G	G	48157793	C	G	48157793	3	3	185	1	0	0	0	0	1	0	0	0	12834	903	32	1	1861	1	PTPRJ	11	48157793	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	392232	48157793	86848723	894	35169										
OR4C12	283093	genome.wustl.edu	37	chr11	50003374	50003374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caagctattgttctttaaagAtctcaagatgatcacatagg	7	7	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:50003374A>G	ENST00000335238.4	-	1	697	c.664T>C	c.(664-666)Tct>Cct	p.S222P		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCTTTAAAGATCTCAAGATG	0.398																																																	0													88	83	85					11																	50003374		2201	4296	6497	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.664T>C	11.37:g.50003374A>G	ENSP00000334418:p.Ser222Pro		B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S222P	ENST00000335238.4	37	c.664	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	11.69	1.713890	0.30413	.	.	ENSG00000221954	ENST00000335238	T	0.00169	8.63	2.98	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.353337	0.20250	U	0.096104	T	0.00637	0.0021	M	0.94142	3.5	0.09310	N	1	D	0.56968	0.978	D	0.67103	0.949	T	0.34204	-0.9838	10	0.87932	D	0	.	6.6598	0.23009	0.7876:0.0:0.0:0.2124	.	222	Q96R67	OR4CC_HUMAN	P	222	ENSP00000334418:S222P	ENSP00000334418:S222P	S	-	1	0	OR4C12	49959950	0.000000	0.05858	0.121000	0.21740	0.572000	0.35998	0.542000	0.23222	0.335000	0.23614	0.325000	0.21440	TCT	OR4C12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	A	NM_001005270		50003374	-1	no_errors	ENST00000335238	ensembl	human	known	70_37	missense	SNP	0.163	G	G	50003374	A	G	50003374	3	3	185	1	0	0	0	0	1	0	0	0	11070	333	12	5	269	5	OR4C12	11	50003374	Missense_Mutation	SNP	A	TCGA-Q1-A73O-01A-11D-A32I-09	1845581	50003374	85003142	895	35170										
OR5D14	219436	genome.wustl.edu	37	chr11	55563425	55563425	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgtggccatctgcaatcctCtgctttatacagtggccatg	9	11	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:55563425C>G	ENST00000335605.1	+	1	394	c.394C>G	c.(394-396)Ctg>Gtg	p.L132V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTGCAATCCTCTGCTTTATAC	0.537																																																	0													103	90	95					11																	55563425		2200	4296	6496	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.394C>G	11.37:g.55563425C>G	ENSP00000334456:p.Leu132Val		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L132V	ENST00000335605.1	37	c.394	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	c	17.46	3.394951	0.62066	.	.	ENSG00000186113	ENST00000335605	T	0.01484	4.84	5.08	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35615	N	0.003097	T	0.16811	0.0404	H	0.97540	4.025	0.40144	D	0.976861	D	0.76494	0.999	D	0.74348	0.983	T	0.08597	-1.0714	10	0.87932	D	0	-11.7266	11.4234	0.49996	0.0:0.9099:0.0:0.0901	.	132	Q8NGL3	OR5DE_HUMAN	V	132	ENSP00000334456:L132V	ENSP00000334456:L132V	L	+	1	2	OR5D14	55320001	0.997000	0.39634	0.978000	0.43139	0.581000	0.36288	3.525000	0.53502	1.107000	0.41642	0.643000	0.83706	CTG	OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.537	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	C	NM_001004735		55563425	1	no_errors	ENST00000335605	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55563425	C	G	55563425	3	3	185	1	0	0	0	0	1	0	0	0	11179	912	32	1	396	1	OR5D14	11	55563425	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5560051	55563425	79443091	896	35171										
APLNR	187	genome.wustl.edu	37	chr11	57004286	57004286	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caggctagcaatgaagatatCagctgagcgcctcttctccc	9	13	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:57004286C>T	ENST00000606794.1	-	1	389	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	65					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATGAAGATATCAGCTGAGCGC	0.612																																																	0													75	68	70					11																	57004286		2201	4296	6497	SO:0001583	missense	187			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.193G>A	11.37:g.57004286C>T	ENSP00000475344:p.Asp65Asn			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.D65N	ENST00000606794.1	37	c.193	CCDS7950.1	11	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981922	0.53827	.	.	ENSG00000134817	ENST00000257254;ENST00000444275	T	0.31510	1.49	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	N	0.25890	0.77	0.45046	D	0.998061	D	0.89917	1.0	D	0.75484	0.986	T	0.07731	-1.0757	10	0.02654	T	1	-32.3979	13.5485	0.61717	0.1559:0.8441:0.0:0.0	.	65	P35414	APJ_HUMAN	N	65;30	ENSP00000257254:D65N	ENSP00000257254:D65N	D	-	1	0	APLNR	56760862	0.998000	0.40836	0.993000	0.49108	0.794000	0.44872	3.720000	0.54933	2.486000	0.83907	0.561000	0.74099	GAT	APLNR	-	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	C	NM_005161		57004286	-1	no_errors	ENST00000257254	ensembl	human	known	70_37	missense	SNP	0.995	T	T	57004286	C	T	57004286	3	4	185	1	0	0	0	0	1	0	0	0	777	826	29	1	953	1	APLNR	11	57004286	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1440861	57004286	78002230	897	35172										
CTNND1	1500	genome.wustl.edu	37	chr11	57569356	57569356	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggagacagccagagctgccaGaggtgatcgccatgcttgga	15	10	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:57569356G>C	ENST00000399050.4	+	7	1644	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q	CTNND1_ENST00000532649.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.E370Q|CTNND1_ENST00000361391.6_Missense_Mutation_p.E370Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.E269Q|CTNND1_ENST00000533667.1_Missense_Mutation_p.E47Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.E370Q|CTNND1_ENST00000530094.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.E269Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000525902.1_Missense_Mutation_p.E47Q|CTNND1_ENST00000361332.4_Missense_Mutation_p.E370Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.E370Q|CTNND1_ENST00000529919.1_Missense_Mutation_p.E370Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.E370Q|CTNND1_ENST00000524630.1_Missense_Mutation_p.E370Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000532844.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.E370Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.E370Q|CTNND1_ENST00000529873.1_Missense_Mutation_p.E316Q|CTNND1_ENST00000531014.1_Missense_Mutation_p.E47Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.E269Q|CTNND1_ENST00000526772.1_Missense_Mutation_p.E47Q|CTNND1_ENST00000527467.1_Missense_Mutation_p.E47Q	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	370					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGAGCTGCCAGAGGTGATCGC	0.542																																																	0													86	86	86					11																	57569356		2033	4195	6228	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1108G>C	11.37:g.57569356G>C	ENSP00000382004:p.Glu370Gln		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E370Q	ENST00000399050.4	37	c.1108	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475859	0.84640	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.72;0.72;0.72;0.67;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.49	4.57	0.56435	Armadillo-like helical (1);Armadillo-type fold (1);	0.097816	0.64402	D	0.000001	T	0.61974	0.2390	L	0.52905	1.665	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.71674	0.99;0.99;0.982;0.997;0.99;0.99;0.998;0.99;0.982	P;P;P;D;P;P;D;P;P	0.70016	0.864;0.864;0.734;0.922;0.864;0.864;0.967;0.864;0.734	T	0.64542	-0.6383	10	0.87932	D	0	-5.5556	13.3705	0.60711	0.0763:0.0:0.9237:0.0	.	370;370;370;269;316;316;370;370;370	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	Q	370;370;370;47;370;370;316;269;370;370;370;269;269;370;269;47;316;316;316;370;47;269;47;47;316;47;316;316;269;269;269;316;370	ENSP00000436543:E370Q;ENSP00000434808:E370Q;ENSP00000381996:E370Q;ENSP00000435242:E47Q;ENSP00000353902:E370Q;ENSP00000354907:E370Q;ENSP00000436323:E316Q;ENSP00000409930:E269Q;ENSP00000382004:E370Q;ENSP00000354785:E370Q;ENSP00000354823:E370Q;ENSP00000432075:E269Q;ENSP00000437156:E269Q;ENSP00000351527:E370Q;ENSP00000434949:E269Q;ENSP00000437051:E47Q;ENSP00000435379:E316Q;ENSP00000432243:E316Q;ENSP00000436744:E316Q;ENSP00000413586:E370Q;ENSP00000434900:E47Q;ENSP00000435266:E269Q;ENSP00000432623:E47Q;ENSP00000433158:E47Q;ENSP00000435494:E316Q;ENSP00000434672:E47Q;ENSP00000433276:E316Q;ENSP00000433334:E316Q;ENSP00000437327:E269Q;ENSP00000403518:E269Q;ENSP00000434017:E269Q;ENSP00000435789:E316Q;ENSP00000432041:E370Q	ENSP00000351527:E370Q	E	+	1	0	CTNND1	57325932	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	7.547000	0.82146	2.570000	0.86706	0.557000	0.71058	GAG	CTNND1	-	superfamily_ARM-type_fold		0.542	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	G	NM_001331		57569356	1	no_errors	ENST00000399050	ensembl	human	known	70_37	missense	SNP	0.998	C	C	57569356	G	C	57569356	3	2	185	1	0	0	0	0	1	0	0	0	4024	943	33	1	1126	1	CTNND1	11	57569356	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	565070	57569356	77437160	898	35173										
OSBP	5007	genome.wustl.edu	37	chr11	59344396	59344396	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtccattttccatcagtctCtggtcaggtcgtaaccggct	9	13	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:59344396C>G	ENST00000263847.1	-	13	2642	c.2163G>C	c.(2161-2163)caG>caC	p.Q721H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	721					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATCAGTCTCTGGTCAGGTC	0.498																																																	0													168	173	171					11																	59344396		2201	4295	6496	SO:0001583	missense	5007			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.2163G>C	11.37:g.59344396C>G	ENSP00000263847:p.Gln721His		Q6P524	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q721H	ENST00000263847.1	37	c.2163	CCDS7974.1	11	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664288	0.67700	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.35421	1.31	5.56	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81104	-0.1084	10	0.87932	D	0	-21.9342	16.0592	0.80826	0.0:0.8653:0.1347:0.0	.	721	P22059	OSBP1_HUMAN	H	721;321	ENSP00000263847:Q721H	ENSP00000263847:Q721H	Q	-	3	2	OSBP	59100972	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.026000	0.70873	1.329000	0.45376	-0.175000	0.13238	CAG	OSBP	-	pfam_Oxysterol-bd		0.498	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBP	HGNC	protein_coding	OTTHUMT00000394555.1	C			59344396	-1	no_errors	ENST00000263847	ensembl	human	known	70_37	missense	SNP	1.000	G	G	59344396	C	G	59344396	3	3	185	1	0	0	0	0	1	0	0	0	11297	912	32	1	268	1	OSBP	11	59344396	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1775040	59344396	75662120	899	35174										
CPSF7	79869	genome.wustl.edu	37	chr11	61183222	61183222	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatatcttcaaattcggcttCactcactgtagagggtggag	11	8	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61183222C>T	ENST00000394888.4	-	7	1172	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	CPSF7_ENST00000448745.1_Missense_Mutation_p.E325K|CPSF7_ENST00000340437.4_Missense_Mutation_p.E377K|CPSF7_ENST00000439958.3_Missense_Mutation_p.E325K	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	334					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AATTCGGCTTCACTCACTGTA	0.448																																																	0													130	109	116					11																	61183222		2202	4299	6501	SO:0001583	missense	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1000G>A	11.37:g.61183222C>T	ENSP00000378352:p.Glu334Lys		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E377K	ENST00000394888.4	37	c.1129	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910359	0.92107	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000477890	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.82	5.82	0.92795	.	0.048448	0.85682	D	0.000000	D	0.92315	0.7562	M	0.61703	1.905	0.80722	D	1	D;D;D	0.65815	0.991;0.988;0.995	P;D;D	0.68483	0.908;0.937;0.958	D	0.92393	0.5923	10	0.66056	D	0.02	-4.2699	17.593	0.88003	0.0:1.0:0.0:0.0	.	334;377;325	Q8N684;Q8N684-3;Q8N684-2	CPSF7_HUMAN;.;.	K	377;334;325;325;100;258	ENSP00000345412:E377K;ENSP00000378352:E334K;ENSP00000397203:E325K;ENSP00000407394:E325K;ENSP00000437860:E258K	ENSP00000345412:E377K	E	-	1	0	CPSF7	60939798	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.940000	0.70187	2.762000	0.94881	0.467000	0.42956	GAA	CPSF7	-	NULL		0.448	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	HGNC	protein_coding	OTTHUMT00000347835.2	C	NM_024811		61183222	-1	no_errors	ENST00000340437	ensembl	human	known	70_37	missense	SNP	1.000	T	T	61183222	C	T	61183222	3	4	185	1	0	0	0	0	1	0	0	0	3835	835	29	1	427	1	CPSF7	11	61183222	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1838826	61183222	73823294	900	35175										
SDHAF2	79869	genome.wustl.edu	37	chr11	61197647	61197647	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtctacagtgttctcgacttCgtcgctggtgaggagagaga	14	8	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61197647C>T	ENST00000394888.4	-	0	0				CPSF7_ENST00000448745.1_5'Flank|CPSF7_ENST00000340437.4_5'Flank|SDHAF2_ENST00000534878.1_Missense_Mutation_p.S10L|CPSF7_ENST00000439958.3_5'Flank|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000542074.1_Missense_Mutation_p.S10L|SDHAF2_ENST00000537782.1_Missense_Mutation_p.S10L|SDHAF2_ENST00000543265.1_Missense_Mutation_p.S10L|SDHAF2_ENST00000301761.2_Missense_Mutation_p.S10L|CPSF7_ENST00000541963.1_5'Flank|RP11-286N22.8_ENST00000543044.1_5'UTR	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TTCTCGACTTCGTCGCTGGTG	0.627																																																	0													72	75	74					11																	61197647		2202	4299	6501	SO:0001631	upstream_gene_variant	54949				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198		11.37:g.61197647C>T	Exception_encountered		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	pfam_DUF339,superfamily_DUF339	p.S10L	ENST00000394888.4	37	c.29	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	c	10.47	1.360123	0.24598	.	.	ENSG00000256591;ENSG00000167985;ENSG00000167985	ENST00000541135;ENST00000301761;ENST00000543265	T;T;T	0.77229	-1.08;-1.01;-1.0	4.17	3.05	0.35203	.	1.947360	0.02250	N	0.066531	T	0.50922	0.1644	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50709	-0.8796	10	0.20046	T	0.44	0.6408	5.857	0.18724	0.0:0.1209:0.0:0.8791	.	10	Q9NX18	SDHF2_HUMAN	L	10	ENSP00000443130:S10L;ENSP00000301761:S10L;ENSP00000443660:S10L	ENSP00000440939:S10L	S	+	2	0	SDHAF2;RP11-286N22.8	60954223	0.003000	0.15002	0.007000	0.13788	0.000000	0.00434	1.155000	0.31700	0.952000	0.37798	-0.376000	0.06991	TCG	SDHAF2	-	NULL		0.627	CPSF7-006	KNOWN	basic|CCDS	protein_coding	SDHAF2	HGNC	protein_coding	OTTHUMT00000347835.2	C	NM_024811		61197647	1	no_errors	ENST00000301761	ensembl	human	known	70_37	missense	SNP	0.009	T	T	61197647	C	T	61197647	1	4	185	0	1	0	0	0	0	0	0	0	13994	893	31	1		1	SDHAF2	11	61197647	5'Flank	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	14425	61197647	73808869	901	35176										
SYT7	9066	genome.wustl.edu	37	chr11	61300491	61300491	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcgctggtgagggagttgacGaggtctgagacggaggaacg	19	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61300491G>A	ENST00000263846.4	-	4	648	c.321C>T	c.(319-321)ctC>ctT	p.L107L	SYT7_ENST00000540677.1_Silent_p.L182L|SYT7_ENST00000535826.1_Silent_p.L226L|SYT7_ENST00000542670.1_Silent_p.L315L|SYT7_ENST00000539008.1_Silent_p.L390L|SYT7_ENST00000542836.1_Silent_p.L151L|SYT7_ENST00000540831.1_5'UTR	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	107					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGAGTTGACGAGGTCTGAGA	0.647																																																	0													111	99	103					11																	61300491		2202	4299	6501	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.321C>T	11.37:g.61300491G>A			F5GZU9|Q08AH6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L107	ENST00000263846.4	37	c.321	CCDS31577.1	11																																																																																			SYT7	-	NULL		0.647	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61300491	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	silent	SNP	0.998	A	A	61300491	G	A	61300491	2	1	185	1	0	0	0	0	0	0	0	1	15509	1045	37	1		1	SYT7	11	61300491	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	102844	61300491	73706025	902	35177										
BEST1	7439	genome.wustl.edu	37	chr11	61722613	61722613	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagaacaacagctgatgtttGagaaactgactctgtattgc	9	7	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61722613G>C	ENST00000378043.4	+	3	830	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	BEST1_ENST00000435278.2_Missense_Mutation_p.E63Q|BEST1_ENST00000526988.1_5'Flank|BEST1_ENST00000301774.9_5'UTR|BEST1_ENST00000378042.3_Missense_Mutation_p.E3Q|BEST1_ENST00000449131.2_Missense_Mutation_p.E3Q|BEST1_ENST00000534553.1_5'UTR	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	63					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GCTGATGTTTGAGAAACTGAC	0.597																																																	0													185	151	162					11																	61722613		2202	4299	6501	SO:0001583	missense	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.187G>C	11.37:g.61722613G>C	ENSP00000367282:p.Glu63Gln		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.E3Q	ENST00000378043.4	37	c.7	CCDS31580.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.202653	0.94997	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000435278;ENST00000449131	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.95884	3.735	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.988;0.992;0.998;0.999;0.998	D	0.98298	1.0517	10	0.87932	D	0	-30.1868	18.0549	0.89361	0.0:0.0:1.0:0.0	.	63;3;3;63;3	B7Z375;B7Z336;O76090-4;O76090;O76090-3	.;.;.;BEST1_HUMAN;.	Q	63;3;63;3	ENSP00000367282:E63Q;ENSP00000367281:E3Q;ENSP00000408390:E63Q;ENSP00000399709:E3Q	ENSP00000367281:E3Q	E	+	1	0	BEST1	61479189	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.806000	0.86020	2.351000	0.79841	0.467000	0.42956	GAG	BEST1	-	NULL		0.597	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	G	NM_004183		61722613	1	no_errors	ENST00000449131	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61722613	G	C	61722613	3	2	185	1	0	0	0	0	1	0	0	0	1405	1291	45	1	193	1	BEST1	11	61722613	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	422122	61722613	73283903	903	35178										
INCENP	3619	genome.wustl.edu	37	chr11	61897557	61897557	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagcagcatgtcacccagctCatgtccaccgagcctctgcc	9	17	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:61897557C>G	ENST00000394818.3	+	4	760	c.558C>G	c.(556-558)ctC>ctG	p.L186L	INCENP_ENST00000278849.4_Silent_p.L186L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	186					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCACCCAGCTCATGTCCACCG	0.602																																																	0													63	55	58					11																	61897557		2202	4299	6501	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.558C>G	11.37:g.61897557C>G			A8MQD2|Q5Y192	Silent	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.L186	ENST00000394818.3	37	c.558	CCDS44624.1	11																																																																																			INCENP	-	NULL		0.602	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	C	NM_020238		61897557	1	no_errors	ENST00000394818	ensembl	human	known	70_37	silent	SNP	0.028	G	G	61897557	C	G	61897557	2	3	185	1	0	0	0	0	0	0	0	1	7753	813	29	1		1	INCENP	11	61897557	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	174944	61897557	73108959	904	35179										
AHNAK	79026	genome.wustl.edu	37	chr11	62286537	62286537	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagttccagatcaggtgcctGgagttcaccctccagtttgg	11	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:62286537G>A	ENST00000378024.4	-	5	15626	c.15352C>T	c.(15352-15354)Cag>Tag	p.Q5118*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5118					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGTGCCTGGAGTTCACCC	0.483																																																	0													71	73	73					11																	62286537		2202	4299	6501	SO:0001587	stop_gained	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15352C>T	11.37:g.62286537G>A	ENSP00000367263:p.Gln5118*		A1A586	Nonsense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q5118*	ENST00000378024.4	37	c.15352	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	56	25.210659	0.99964	.	.	ENSG00000124942	ENST00000378024	.	.	.	4.88	3.93	0.45458	.	0.502262	0.16606	N	0.207129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5947	8.4098	0.32636	0.0:0.1334:0.441:0.4256	.	.	.	.	X	5118	.	ENSP00000367263:Q5118X	Q	-	1	0	AHNAK	62043113	0.999000	0.42202	1.000000	0.80357	0.644000	0.38419	1.407000	0.34657	1.117000	0.41842	0.542000	0.68232	CAG	AHNAK	-	NULL		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	G	NM_024060		62286537	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	nonsense	SNP	0.947	A	A	62286537	G	A	62286537	4	1	185	1	0	0	0	0	0	1	0	0	414	1357	47	4	2440	4	AHNAK	11	62286537	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	388980	62286537	72719979	905	35180										
HRASLS5	117245	genome.wustl.edu	37	chr11	63258427	63258427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcccggtactggcggttcgcGaggcgggtttggggaggggt	22	8	0	0	rs148328959		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:63258427G>A	ENST00000301790.4	-	1	239	c.80C>T	c.(79-81)tCg>tTg	p.S27L	HRASLS5_ENST00000540857.1_Missense_Mutation_p.S27L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.S27L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	27							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GGCGGTTCGCGAGGCGGGTTT	0.706																																																	0													12	13	13					11																	63258427		2194	4288	6482	SO:0001583	missense	117245			AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.80C>T	11.37:g.63258427G>A	ENSP00000301790:p.Ser27Leu		B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.S27L	ENST00000301790.4	37	c.80	CCDS8044.1	11	.	.	.	.	.	.	.	.	.	.	G	8.899	0.955921	0.18507	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.35421	1.31;1.8;1.31	2.57	0.607	0.17564	.	.	.	.	.	T	0.16599	0.0399	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25169	0.045;0.119;0.027	B;B;B	0.17433	0.006;0.018;0.003	T	0.23190	-1.0195	8	.	.	.	-2.5132	3.7134	0.08428	0.153:0.2598:0.5872:0.0	.	27;27;27	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	27	ENSP00000444809:S27L;ENSP00000443873:S27L;ENSP00000301790:S27L	.	S	-	2	0	HRASLS5	63015003	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.859000	0.04277	0.163000	0.19507	-1.031000	0.02408	TCG	HRASLS5	-	NULL		0.706	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HRASLS5	HGNC	protein_coding	OTTHUMT00000396375.1	G	NM_054108		63258427	-1	no_errors	ENST00000301790	ensembl	human	known	70_37	missense	SNP	0.002	A	A	63258427	G	A	63258427	3	1	185	1	0	0	0	0	1	0	0	0	7371	1059	37	1	783	1	HRASLS5	11	63258427	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	971890	63258427	71748089	906	35181										
RTN3	10313	genome.wustl.edu	37	chr11	63488456	63488456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttccagccttagcaagactGaattggtaaaaaagcatgtc	8	8	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:63488456G>A	ENST00000377819.5	+	3	2636	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E716K|RTN3_ENST00000339997.4_Missense_Mutation_p.E809K|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	828					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TAGCAAGACTGAATTGGTAAA	0.393																																																	0													77	80	79					11																	63488456		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2482G>A	11.37:g.63488456G>A	ENSP00000367050:p.Glu828Lys		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.E828K	ENST00000377819.5	37	c.2482	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601501	0.87055	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.27720	1.65;1.66;1.68	5.52	5.52	0.82312	.	0.760640	0.12103	N	0.499356	T	0.36744	0.0978	L	0.32530	0.975	0.80722	D	1	D;D;D	0.58268	0.971;0.982;0.971	P;P;P	0.53224	0.721;0.53;0.721	T	0.01202	-1.1420	10	0.23302	T	0.38	-8.6002	15.295	0.73898	0.0:0.0:1.0:0.0	.	716;828;809	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	K	828;809;716	ENSP00000367050:E828K;ENSP00000344106:E809K;ENSP00000442733:E716K	ENSP00000344106:E809K	E	+	1	0	RTN3	63245032	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	3.358000	0.52284	2.748000	0.94277	0.655000	0.94253	GAA	RTN3	-	NULL		0.393	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	G	NM_006054		63488456	1	no_errors	ENST00000377819	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63488456	G	A	63488456	3	1	185	1	0	0	0	0	1	0	0	0	13757	1291	45	1	2492	1	RTN3	11	63488456	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	230029	63488456	71518060	907	35182										
STIP1	10963	genome.wustl.edu	37	chr11	63961973	63961973	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaaaattcatgaaccctttCaacatgcctaatctgtatca	4	10	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:63961973C>G	ENST00000305218.4	+	4	531	c.384C>G	c.(382-384)ttC>ttG	p.F128L	STIP1_ENST00000543847.1_Missense_Mutation_p.F128L|STIP1_ENST00000538945.1_Missense_Mutation_p.F104L|STIP1_ENST00000358794.5_Missense_Mutation_p.F175L|STIP1_ENST00000540501.1_3'UTR	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	128					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F128L(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TGAACCCTTTCAACATGCCTA	0.438																																																	1	Substitution - Missense(1)	lung(1)											113	108	109					11																	63961973		2201	4297	6498	SO:0001583	missense	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.384C>G	11.37:g.63961973C>G	ENSP00000305958:p.Phe128Leu		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F128L	ENST00000305218.4	37	c.384	CCDS8058.1	11	.	.	.	.	.	.	.	.	.	.	C	18.08	3.545017	0.65198	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	T;T;T;T	0.21191	2.02;2.02;2.09;2.02	5.57	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.77313	2.365	0.58432	D	0.999991	B;B;B	0.30104	0.268;0.041;0.16	B;B;B	0.36186	0.178;0.034;0.219	T	0.06285	-1.0835	10	0.29301	T	0.29	-31.4336	13.6364	0.62225	0.0:0.9242:0.0:0.0758	.	104;128;128	F5H0T1;P31948;F5H783	.;STIP1_HUMAN;.	L	175;128;104;128	ENSP00000351646:F175L;ENSP00000305958:F128L;ENSP00000445957:F104L;ENSP00000442704:F128L	ENSP00000305958:F128L	F	+	3	2	STIP1	63718549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.024000	0.41049	1.490000	0.48466	0.650000	0.86243	TTC	STIP1	-	NULL		0.438	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	C	NM_006819		63961973	1	no_errors	ENST00000305218	ensembl	human	known	70_37	missense	SNP	1.000	G	G	63961973	C	G	63961973	3	3	185	1	0	0	0	0	1	0	0	0	15315	825	29	1	398	1	STIP1	11	63961973	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	473517	63961973	71044543	908	35183										
MAP4K2	5871	genome.wustl.edu	37	chr11	64557881	64557881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcacgttcaaagctgactaGgattgtgtccctgtccacct	8	13	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64557881G>A	ENST00000294066.2	-	28	2237	c.2146C>T	c.(2146-2148)Cta>Tta	p.L716L	MAP4K2_ENST00000377350.3_Silent_p.L708L	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	716	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AAGCTGACTAGGATTGTGTCC	0.632																																																	0													105	94	98					11																	64557881		2201	4297	6498	SO:0001819	synonymous_variant	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2146C>T	11.37:g.64557881G>A			Q86VU3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L716	ENST00000294066.2	37	c.2146	CCDS8082.1	11																																																																																			MAP4K2	-	pfam_Citron,smart_Citron		0.632	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	G	NM_004579		64557881	-1	no_errors	ENST00000294066	ensembl	human	known	70_37	silent	SNP	0.665	A	A	64557881	G	A	64557881	2	1	185	1	0	0	0	0	0	0	0	1	9283	991	35	4		4	MAP4K2	11	64557881	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	595908	64557881	70448635	909	35184										
CDCA5	113130	genome.wustl.edu	37	chr11	64847036	64847036	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcggcctggggtggaggtaGaggcagagcccagggtctcc	20	10	1	2	rs34020666	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64847036G>C	ENST00000275517.3	-	5	639	c.467C>G	c.(466-468)tCt>tGt	p.S156C	CDCA5_ENST00000404147.3_Missense_Mutation_p.S156C	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	156			S -> Y (in dbSNP:rs34020666).		double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGTGGAGGTAGAGGCAGAGCC	0.617																																																	0													32	36	35					11																	64847036		2201	4297	6498	SO:0001583	missense	113130			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"sororin"	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.467C>G	11.37:g.64847036G>C	ENSP00000275517:p.Ser156Cys		A8K625	Missense_Mutation	SNP	pfam_Sororin	p.S156C	ENST00000275517.3	37	c.467	CCDS8091.1	11	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902338	0.52227	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.48201	0.82;0.82	5.55	4.64	0.57946	.	0.508629	0.20638	N	0.088449	T	0.61123	0.2322	M	0.63428	1.95	0.21822	N	0.999528	D	0.63046	0.992	P	0.59948	0.866	T	0.56050	-0.8043	10	0.72032	D	0.01	.	12.3025	0.54882	0.0826:0.0:0.9174:0.0	.	156	Q96FF9	CDCA5_HUMAN	C	156	ENSP00000275517:S156C;ENSP00000385711:S156C	ENSP00000275517:S156C	S	-	2	0	CDCA5	64603612	0.998000	0.40836	0.120000	0.21714	0.253000	0.25986	3.649000	0.54417	1.338000	0.45544	0.650000	0.86243	TCT	CDCA5	-	pfam_Sororin		0.617	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA5	HGNC	protein_coding	OTTHUMT00000385186.1	G	NM_080668		64847036	-1	no_errors	ENST00000275517	ensembl	human	known	70_37	missense	SNP	0.588	C	C	64847036	G	C	64847036	3	2	185	1	0	0	0	0	1	0	0	0	3094	942	33	1	299	1	CDCA5	11	64847036	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	289155	64847036	70159480	910	35185										
CDCA5	113130	genome.wustl.edu	37	chr11	64847126	64847126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtccagctctccttccttgGagctggactcggcctcaggg	12	15	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64847126G>A	ENST00000275517.3	-	5	549	c.377C>T	c.(376-378)tCc>tTc	p.S126F	CDCA5_ENST00000404147.3_Missense_Mutation_p.S126F	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	126					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCCTTCCTTGGAGCTGGACTC	0.602																																																	0													18	19	19					11																	64847126		2198	4296	6494	SO:0001583	missense	113130			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"sororin"	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.377C>T	11.37:g.64847126G>A	ENSP00000275517:p.Ser126Phe		A8K625	Missense_Mutation	SNP	pfam_Sororin	p.S126F	ENST00000275517.3	37	c.377	CCDS8091.1	11	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060914	0.55432	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.47869	0.83;0.83	5.14	1.48	0.22813	.	0.790098	0.12238	N	0.486808	T	0.38214	0.1032	M	0.63428	1.95	0.09310	N	1	B	0.29481	0.245	B	0.27608	0.081	T	0.40813	-0.9543	10	0.52906	T	0.07	.	1.6474	0.02764	0.1368:0.2065:0.4448:0.212	.	126	Q96FF9	CDCA5_HUMAN	F	126	ENSP00000275517:S126F;ENSP00000385711:S126F	ENSP00000275517:S126F	S	-	2	0	CDCA5	64603702	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.262000	0.18460	0.581000	0.29539	0.637000	0.83480	TCC	CDCA5	-	pfam_Sororin		0.602	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA5	HGNC	protein_coding	OTTHUMT00000385186.1	G	NM_080668		64847126	-1	no_errors	ENST00000275517	ensembl	human	known	70_37	missense	SNP	0.001	A	A	64847126	G	A	64847126	3	1	185	1	0	0	0	0	1	0	0	0	3094	1174	41	1	389	1	CDCA5	11	64847126	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	90	64847126	70159390	911	35186										
SPDYC	387778	genome.wustl.edu	37	chr11	64940071	64940071	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgtgagccgccagtgctgtGaggaggtgaggctgggaggc	20	7	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64940071G>A	ENST00000377185.2	+	5	593	c.511G>A	c.(511-513)Gag>Aag	p.E171K	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCAGTGCTGTGAGGAGGTGAG	0.592																																																	0													52	55	54					11																	64940071		2201	4297	6498	SO:0001583	missense	387778			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.511G>A	11.37:g.64940071G>A	ENSP00000366390:p.Glu171Lys			Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.E171K	ENST00000377185.2	37	c.511	CCDS31606.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466841	0.84425	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.5	3.64	0.41730	.	0.113106	0.36778	N	0.002402	T	0.44052	0.1275	L	0.48986	1.54	0.29139	N	0.879159	D	0.52996	0.957	P	0.49752	0.621	T	0.41161	-0.9524	9	0.52906	T	0.07	.	10.105	0.42528	0.1636:0.0:0.8364:0.0	.	171	Q5MJ68	SPDYC_HUMAN	K	171	.	ENSP00000366390:E171K	E	+	1	0	SPDYC	64696647	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	4.942000	0.63547	0.703000	0.31848	0.655000	0.94253	GAG	SPDYC	-	pfam_Cell_cycle_regulatory_Spy1		0.592	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	HGNC	protein_coding	OTTHUMT00000385299.1	G	NM_001008778		64940071	1	no_errors	ENST00000377185	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64940071	G	A	64940071	3	1	185	1	0	0	0	0	1	0	0	0	15058	1291	45	1	529	1	SPDYC	11	64940071	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	92945	64940071	70066445	912	35187										
CAPN1	823	genome.wustl.edu	37	chr11	64950299	64950299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtacctgggccaggattatGagcagctgcgggtgcgatgc	16	9	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:64950299G>C	ENST00000527323.1	+	1	367	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	CAPN1_ENST00000533129.1_Missense_Mutation_p.E43Q|AP003068.23_ENST00000526623.1_5'Flank|CAPN1_ENST00000279247.6_Missense_Mutation_p.E43Q|CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533820.1_Missense_Mutation_p.E43Q|CAPN1_ENST00000524773.1_Missense_Mutation_p.E43Q			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	43					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCAGGATTATGAGCAGCTGCG	0.637																																																	0													40	48	45					11																	64950299		2102	4234	6336	SO:0001583	missense	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.127G>C	11.37:g.64950299G>C	ENSP00000431984:p.Glu43Gln		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E43Q	ENST00000527323.1	37	c.127	CCDS44644.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.271045|4.271045	0.80469|0.80469	.|.	.|.	ENSG00000014216|ENSG00000014216	ENST00000528396;ENST00000529133;ENST00000533820;ENST00000530571;ENST00000527739;ENST00000526966;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000532285;ENST00000534373;ENST00000531068;ENST00000527699;ENST00000533909;ENST00000527323|ENST00000259755	T;T;T;T;T;T;T;T;D;T;T;T;T;T|.	0.97665|.	0.81;0.81;2.29;0.81;0.81;2.29;2.29;2.29;-4.48;0.81;0.81;0.81;0.81;2.29|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Peptidase C2, calpain, catalytic domain (1);|.	0.180408|.	0.47852|.	D|.	0.000209|.	T|T	0.68412|0.68412	0.2998|0.2998	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	B|.	0.12630|.	0.006|.	B|.	0.16722|.	0.016|.	T|T	0.64317|0.64317	-0.6436|-0.6436	10|6	0.54805|0.30854	T|T	0.06|0.27	.|.	16.7012|16.7012	0.85349|0.85349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	43|.	P07384|.	CAN1_HUMAN|.	Q|I	43|12	ENSP00000435847:E43Q;ENSP00000432512:E43Q;ENSP00000435272:E43Q;ENSP00000433823:E43Q;ENSP00000431528:E43Q;ENSP00000431686:E43Q;ENSP00000434176:E43Q;ENSP00000279247:E43Q;ENSP00000436693:E43Q;ENSP00000431793:E43Q;ENSP00000435092:E43Q;ENSP00000431172:E43Q;ENSP00000435198:E43Q;ENSP00000431984:E43Q|.	ENSP00000279247:E43Q|ENSP00000259755:M12I	E|M	+|+	1|3	0|0	CAPN1|CAPN1	64706875|64706875	1.000000|1.000000	0.71417|0.71417	0.738000|0.738000	0.30950|0.30950	0.959000|0.959000	0.62525|0.62525	5.666000|5.666000	0.68059|0.68059	2.548000|2.548000	0.85928|0.85928	0.655000|0.655000	0.94253|0.94253	GAG|ATG	CAPN1	-	smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	G			64950299	1	no_errors	ENST00000279247	ensembl	human	known	70_37	missense	SNP	0.998	C	C	64950299	G	C	64950299	3	2	185	1	0	0	0	0	1	0	0	0	2627	1291	45	1	129	1	CAPN1	11	64950299	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	10228	64950299	70056217	913	35188										
RELA	5970	genome.wustl.edu	37	chr11	65422192	65422193	+	Missense_Mutation	DNP	TC	TC	AG													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actgcagctgcagcagggccTctgacagcgttccttcccca							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65422192_65422193TC>AG	ENST00000406246.3	-	11	1573_1574	c.1312_1313GA>CT	c.(1312-1314)GAg>CTg	p.E438L	RELA_ENST00000308639.9_Missense_Mutation_p.E435L|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	438	Activation domain.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						cagcagggcctctGACAGCGTT	0.653																																																	0																																										SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1312_1313delinsAG	11.37:g.65422192_65422193delinsAG	ENSP00000384273:p.Glu438Leu		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.E438V|p.E438Q	ENST00000406246.3	37	c.1313|c.1312	CCDS31609.1	11																																																																																			RELA	-	NULL		0.653	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	T|C	NM_021975		65422192|65422193	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	0.992|0.932	A|G	AG	65422193	TC	AG	65422192	3	1	185	1	0	0	0	0	1	0	0	0	13246	1551	54	5	346	5	RELA	11	65422192	Missense_Mutation	DNP	TC	TCGA-Q1-A73O-01A-11D-A32I-09	471893	65422192	69584324	914	35189										
RELA	5970	genome.wustl.edu	37	chr11	65423345	65423345	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgctgaaaggactcttcttCatgatgctcttgaaggtctc	9	11	5	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65423345C>T	ENST00000406246.3	-	9	1200	c.939G>A	c.(937-939)atG>atA	p.M313I	RELA_ENST00000308639.9_Missense_Mutation_p.M310I|RELA_ENST00000525693.1_Missense_Mutation_p.M313I	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	313					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GACTCTTCTTCATGATGCTCT	0.557																																																	0													223	197	206					11																	65423345		2201	4297	6498	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.939G>A	11.37:g.65423345C>T	ENSP00000384273:p.Met313Ile		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.M313I	ENST00000406246.3	37	c.939	CCDS31609.1	11	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999578	0.35320	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.78	3.8	0.43715	Immunoglobulin E-set (1);	0.077843	0.48767	D	0.000167	T	0.16981	0.0408	N	0.21373	0.66	0.40288	D	0.978478	B;B;B;B;B;B	0.31241	0.123;0.315;0.027;0.016;0.009;0.002	B;B;B;B;B;B	0.28784	0.014;0.094;0.026;0.011;0.016;0.016	T	0.04664	-1.0935	10	0.07482	T	0.82	-20.417	12.1283	0.53928	0.0:0.8255:0.1745:0.0	.	303;300;310;313;324;313	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	I	313;313;310;324;324	ENSP00000384273:M313I;ENSP00000432537:M313I;ENSP00000311508:M310I;ENSP00000433526:M324I	ENSP00000311508:M310I	M	-	3	0	RELA	65179921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.155000	0.31700	2.209000	0.71365	0.555000	0.69702	ATG	RELA	-	superfamily_Ig_E-set		0.557	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	C	NM_021975		65423345	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65423345	C	T	65423345	3	4	185	1	0	0	0	0	1	0	0	0	13246	826	29	1	728	1	RELA	11	65423345	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1153	65423345	69583171	915	35190										
RELA	5970	genome.wustl.edu	37	chr11	65423365	65423365	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catgatgctcttgaaggtctCatatgtccttttacgtttct	7	9	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65423365C>T	ENST00000406246.3	-	9	1180	c.919G>A	c.(919-921)Gag>Aag	p.E307K	RELA_ENST00000308639.9_Missense_Mutation_p.E304K|RELA_ENST00000525693.1_Missense_Mutation_p.E307K	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	307					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TTGAAGGTCTCATATGTCCTT	0.567																																																	0													215	187	196					11																	65423365		2201	4297	6498	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.919G>A	11.37:g.65423365C>T	ENSP00000384273:p.Glu307Lys		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.E307K	ENST00000406246.3	37	c.919	CCDS31609.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.036273|2.036273	0.35893|0.35893	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999|ENST00000526257	T;T;T;T|.	0.09538|.	2.97;2.97;2.97;2.97|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Immunoglobulin E-set (1);|.	0.207046|.	0.40469|.	N|.	0.001098|.	T|T	0.62245|0.62245	0.2412|0.2412	L|L	0.47190|0.47190	1.495|1.495	0.43377|0.43377	D|D	0.995479|0.995479	P;P;P;B;B;B|.	0.44734|.	0.842;0.561;0.547;0.411;0.132;0.132|.	B;B;B;B;B;B|.	0.36808|.	0.233;0.066;0.098;0.045;0.051;0.038|.	T|T	0.59894|0.59894	-0.7368|-0.7368	10|5	0.13470|.	T|.	0.59|.	-21.9043|-21.9043	15.3177|15.3177	0.74095|0.74095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	297;294;304;307;318;307|.	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5|.	.;.;.;TF65_HUMAN;.;.|.	K|I	307;307;304;318;318|40	ENSP00000384273:E307K;ENSP00000432537:E307K;ENSP00000311508:E304K;ENSP00000433526:E318K|.	ENSP00000311508:E304K|.	E|M	-|-	1|3	0|0	RELA|RELA	65179941|65179941	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.427000|3.427000	0.52785|0.52785	2.209000|2.209000	0.71365|0.71365	0.555000|0.555000	0.69702|0.69702	GAG|ATG	RELA	-	superfamily_Ig_E-set		0.567	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	C	NM_021975		65423365	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	0.991	T	T	65423365	C	T	65423365	3	4	185	1	0	0	0	0	1	0	0	0	13246	835	29	1	748	1	RELA	11	65423365	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	20	65423365	69583151	916	35191										
RELA	5970	genome.wustl.edu	37	chr11	65423404	65423404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcctcaatccggtgacgatCgtctgggaaagtaaggggga	14	9	2	1	rs374605673		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65423404C>T	ENST00000406246.3	-	9	1141	c.880G>A	c.(880-882)Gat>Aat	p.D294N	RELA_ENST00000308639.9_Missense_Mutation_p.D291N|RELA_ENST00000525693.1_Missense_Mutation_p.D294N	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	294	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CGGTGACGATCGTCTGGGAAA	0.547																																																	0								C	ASN/ASP,ASN/ASP	0,4402		0,0,2201	111	99	103		871,880	4.8	1	11		103	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	RELA	NM_001145138.1,NM_021975.3	23,23	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	291/549,294/552	65423404	1,12995	2201	4297	6498	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.880G>A	11.37:g.65423404C>T	ENSP00000384273:p.Asp294Asn		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.D294N	ENST00000406246.3	37	c.880	CCDS31609.1	11	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158924	0.57368	0.0	1.16E-4	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.78	4.78	0.61160	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.87269	2.87	0.49915	D	0.999838	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.998;0.995;0.989;0.99;0.996	D	0.83427	0.0036	10	0.87932	D	0	-12.4796	15.3177	0.74095	0.0:1.0:0.0:0.0	.	284;281;291;294;305;294	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	N	294;294;291;305;305	ENSP00000384273:D294N;ENSP00000432537:D294N;ENSP00000311508:D291N;ENSP00000433526:D305N	ENSP00000311508:D291N	D	-	1	0	RELA	65179980	1.000000	0.71417	0.998000	0.56505	0.605000	0.37080	4.976000	0.63785	2.209000	0.71365	0.555000	0.69702	GAT	RELA	-	superfamily_Ig_E-set,prints_NF_Rel_dor		0.547	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	C	NM_021975		65423404	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65423404	C	T	65423404	3	4	185	1	0	0	0	0	1	0	0	0	13246	884	31	1	787	1	RELA	11	65423404	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	39	65423404	69583112	917	35192										
RELA	5970	genome.wustl.edu	37	chr11	65429492	65429492	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgcccctcgcacttgtagcgGaagcgcatgccccgctgctt	11	17	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65429492G>A	ENST00000406246.3	-	3	363	c.102C>T	c.(100-102)ttC>ttT	p.F34F	RELA_ENST00000308639.9_Silent_p.F34F|RELA_ENST00000525693.1_Silent_p.F34F	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	34	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						ACTTGTAGCGGAAGCGCATGC	0.667																																																	0													57	52	54					11																	65429492		2201	4297	6498	SO:0001819	synonymous_variant	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.102C>T	11.37:g.65429492G>A			Q6GTV1|Q6SLK1	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.F34	ENST00000406246.3	37	c.102	CCDS31609.1	11																																																																																			RELA	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor		0.667	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	G	NM_021975		65429492	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	silent	SNP	1.000	A	A	65429492	G	A	65429492	2	1	185	1	0	0	0	0	0	0	0	1	13246	1165	41	1		1	RELA	11	65429492	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6088	65429492	69577024	918	35193										
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546419	65546419	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accaccttcaggggctccctCagctcagagtccacctgatc	8	17	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65546419C>G	ENST00000532090.2	-	2	1755	c.1545G>C	c.(1543-1545)ctG>ctC	p.L515L		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	515					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGGGCTCCCTCAGCTCAGAGT	0.627																																																	0													25	29	27					11																	65546419		2046	4196	6242	SO:0001819	synonymous_variant	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1545G>C	11.37:g.65546419C>G			A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	NULL	p.L515	ENST00000532090.2	37	c.1545	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.627	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	C	NM_138368		65546419	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	silent	SNP	0.788	G	G	65546419	C	G	65546419	2	3	185	1	0	0	0	0	0	0	0	1	4553	813	29	1		1	DKFZp761E198	11	65546419	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	116927	65546419	69460097	919	35194										
MUS81	80198	genome.wustl.edu	37	chr11	65632706	65632706	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccaggcccagtcggtgcgaGaagtgtttgcccggcagctg	15	13	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:65632706G>A	ENST00000308110.4	+	14	1766	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.E398K	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	473					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GTCGGTGCGAGAAGTGTTTGC	0.607								Homologous recombination																																									0													92	96	95					11																	65632706		2201	4296	6497	SO:0001583	missense	80198				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1417G>A	11.37:g.65632706G>A	ENSP00000307853:p.Glu473Lys		Q9H7D9	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain	p.E473K	ENST00000308110.4	37	c.1417	CCDS8115.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.260654|3.260654	0.59431|0.59431	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742|ENST00000529374	T;T;T|T	0.51071|0.14516	2.34;2.55;0.72|2.5	5.75|5.75	3.84|3.84	0.44239|0.44239	.|.	0.097175|.	0.64402|.	D|.	0.000002|.	T|T	0.31451|0.31451	0.0797|0.0797	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	P|.	0.44627|.	0.839|.	B|.	0.43082|.	0.407|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|6	0.62326|.	D|.	0.03|.	-12.4755|-12.4755	10.139|10.139	0.42723|0.42723	0.0773:0.1369:0.7858:0.0|0.0773:0.1369:0.7858:0.0	.|.	473|.	Q96NY9|.	MUS81_HUMAN|.	K|K	398;473;473;6|398	ENSP00000432287:E398K;ENSP00000307853:E473K;ENSP00000435277:E6K|ENSP00000434305:R398K	ENSP00000307853:E473K|.	E|R	+|+	1|2	0|0	MUS81|MUS81	65389282|65389282	1.000000|1.000000	0.71417|0.71417	0.241000|0.241000	0.24154|0.24154	0.802000|0.802000	0.45316|0.45316	6.160000|6.160000	0.71862|0.71862	1.417000|1.417000	0.47077|0.47077	0.511000|0.511000	0.50034|0.50034	GAA|AGA	MUS81	-	NULL		0.607	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUS81	HGNC	protein_coding	OTTHUMT00000390941.3	G	NM_025128		65632706	1	no_errors	ENST00000308110	ensembl	human	known	70_37	missense	SNP	0.955	A	A	65632706	G	A	65632706	3	1	185	1	0	0	0	0	1	0	0	0	10011	943	33	1	1471	1	MUS81	11	65632706	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	86287	65632706	69373810	920	35195										
BBS1	582	genome.wustl.edu	37	chr11	66293630	66293630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttgctttggccggtacgggCgggaggacaacaccctcatc	13	12	1	0	rs143495423	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:66293630C>T	ENST00000318312.7	+	12	1198	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R420W|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Missense_Mutation_p.R286W|BBS1_ENST00000393994.2_Missense_Mutation_p.R254W	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	383					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCGGTACGGGCGGGAGGACAA	0.557									Bardet-Biedl syndrome				C|||	3	0.000599042	0	0	5008	,	,		20231	0		0	False		,,,				2504	0.0031				GBM(152;173 2612 9770 10137)												0													102	87	92					11																	66293630		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1147C>T	11.37:g.66293630C>T	ENSP00000317469:p.Arg383Trp		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.R420W	ENST00000318312.7	37	c.1258	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175803	0.78564	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.97976	-4.58;-4.64;-4.44;-2.64	4.47	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	D	0.98557	0.9518	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.995;1.0;1.0;1.0	D	0.98696	1.0698	9	0.87932	D	0	.	10.1296	0.42672	0.1995:0.8005:0.0:0.0	.	58;286;254;271;383;420	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	W	420;383;286;254	ENSP00000398526:R420W;ENSP00000317469:R383W;ENSP00000405764:R286W;ENSP00000377563:R254W	ENSP00000317469:R383W	R	+	1	2	BBS1;CTD-3074O7.11	66050206	0.984000	0.35163	1.000000	0.80357	0.878000	0.50629	2.635000	0.46537	2.500000	0.84329	0.563000	0.77884	CGG	BBS1	-	superfamily_Quinonprotein_ADH-like		0.557	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256349	Uniprot_genename	protein_coding	OTTHUMT00000393235.2	C			66293630	1	no_errors	ENST00000419755	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66293630	C	T	66293630	3	4	185	1	0	0	0	0	1	0	0	0	1336	759	27	2	1193	2	BBS1	11	66293630	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	660924	66293630	68712886	921	35196										
SPTBN2	6712	genome.wustl.edu	37	chr11	66457557	66457557	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggttgacctcatccatccaGagcatcagttcccggacagc	9	14	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:66457557G>A	ENST00000533211.1	-	28	6094	c.5763C>T	c.(5761-5763)ctC>ctT	p.L1921L	SPTBN2_ENST00000529997.1_Silent_p.L1921L|SPTBN2_ENST00000309996.2_Silent_p.L1921L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1921					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CATCCATCCAGAGCATCAGTT	0.637																																																	0													122	120	121					11																	66457557		2200	4295	6495	SO:0001819	synonymous_variant	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5763C>T	11.37:g.66457557G>A			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1921	ENST00000533211.1	37	c.5763	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	G	NM_006946		66457557	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	silent	SNP	0.994	A	A	66457557	G	A	66457557	2	1	185	1	0	0	0	0	0	0	0	1	15150	929	33	1		1	SPTBN2	11	66457557	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	163927	66457557	68548959	922	35197										
ADRBK1	156	genome.wustl.edu	37	chr11	67050286	67050286	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcgaccgcatgacgctgacGatggtgggtgcaggtctcag	15	10	1	2	rs138968014	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:67050286G>A	ENST00000308595.5	+	14	1514	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGACGCTGACGATGGTGGGTG	0.602																																																	0								G		0,4400		0,0,2200	41	37	38		1224	-9.4	0.4	11	dbSNP_134	38	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	ADRBK1	NM_001619.3		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		408/690	67050286	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1224G>A	11.37:g.67050286G>A			B0ZBE1|Q13837|Q6GTT3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.T408	ENST00000308595.5	37	c.1224	CCDS8156.1	11																																																																																			ADRBK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.602	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	G	NM_001619		67050286	1	no_errors	ENST00000308595	ensembl	human	known	70_37	silent	SNP	0.891	A	A	67050286	G	A	67050286	2	1	185	1	0	0	0	0	0	0	0	1	343	1045	37	1		1	ADRBK1	11	67050286	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	592729	67050286	67956230	923	35198										
PPP1CA	5499	genome.wustl.edu	37	chr11	67168224	67168224	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggttcccacggagcaggaaGaagttctcggggtacttgat	14	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:67168224G>A	ENST00000376745.4	-	3	502	c.354C>T	c.(352-354)ttC>ttT	p.F118F	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Silent_p.F74F|PPP1CA_ENST00000312989.7_Silent_p.F129F	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	118					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGAGCAGGAAGAAGTTCTCGG	0.567																																																	0													122	111	115					11																	67168224		2200	4295	6495	SO:0001819	synonymous_variant	5499				CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.354C>T	11.37:g.67168224G>A			A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.F129	ENST00000376745.4	37	c.387	CCDS8160.1	11																																																																																			PPP1CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase		0.567	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CA	HGNC	protein_coding	OTTHUMT00000395487.1	G	NM_002708		67168224	-1	no_errors	ENST00000312989	ensembl	human	known	70_37	silent	SNP	1.000	A	A	67168224	G	A	67168224	2	1	185	1	0	0	0	0	0	0	0	1	12376	933	33	1		1	PPP1CA	11	67168224	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	117938	67168224	67838292	924	35199										
TBX10	347853	genome.wustl.edu	37	chr11	67402720	67402720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggtgcaagtatgccgaggcCagcagataggaaggctgtgg	18	7	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:67402720C>T	ENST00000335385.3	-	2	109	c.22G>A	c.(22-24)Ggc>Agc	p.G8S		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	8					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						ATGCCGAGGCCAGCAGATAGG	0.612																																																	0													55	57	56					11																	67402720		2200	4294	6494	SO:0001583	missense	347853			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"T-boxes"	11593	protein-coding gene	gene with protein product		604648	"T-box 7"	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.22G>A	11.37:g.67402720C>T	ENSP00000335191:p.Gly8Ser		Q14D64|Q86XS3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.G8S	ENST00000335385.3	37	c.22	CCDS31621.1	11	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250780	0.22880	.	.	ENSG00000167800	ENST00000335385	D	0.85556	-2.0	4.84	-3.24	0.05094	.	.	.	.	.	T	0.73953	0.3653	L	0.27053	0.805	0.19945	N	0.99994	B	0.06786	0.001	B	0.08055	0.003	T	0.57069	-0.7874	9	0.34782	T	0.22	.	11.9616	0.53011	0.0:0.2325:0.0:0.7675	.	8	O75333	TBX10_HUMAN	S	8	ENSP00000335191:G8S	ENSP00000335191:G8S	G	-	1	0	TBX10	67159296	0.212000	0.23540	0.002000	0.10522	0.012000	0.07955	-0.253000	0.08794	-0.481000	0.06792	0.462000	0.41574	GGC	TBX10	-	NULL		0.612	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	C	NM_005995		67402720	-1	no_errors	ENST00000335385	ensembl	human	known	70_37	missense	SNP	0.037	T	T	67402720	C	T	67402720	3	4	185	1	0	0	0	0	1	0	0	0	15681	594	21	4	1163	4	TBX10	11	67402720	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	234496	67402720	67603796	925	35200										
MRGPRF	116535	genome.wustl.edu	37	chr11	68773160	68773160	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgagcgggcagcagagcagGaacaggaggatgcccaggaa	17	8	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:68773160G>A	ENST00000309099.6	-	3	1000	c.618C>T	c.(616-618)ttC>ttT	p.F206F	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Silent_p.F206F	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	206						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGCAGAGCAGGAACAGGAGGA	0.687																																																	0													25	22	23					11																	68773160		2087	4108	6195	SO:0001819	synonymous_variant	116535			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.618C>T	11.37:g.68773160G>A			B3KV43|Q8NBK8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F206	ENST00000309099.6	37	c.618	CCDS8188.1	11																																																																																			MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.687	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	G	NM_145015		68773160	-1	no_errors	ENST00000309099	ensembl	human	known	70_37	silent	SNP	0.575	A	A	68773160	G	A	68773160	2	1	185	1	0	0	0	0	0	0	0	1	9788	1165	41	1		1	MRGPRF	11	68773160	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1370440	68773160	66233356	926	35201										
PPFIA1	8500	genome.wustl.edu	37	chr11	70171018	70171018	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctcttaggatgaccgtggtGaagagacaagcgcagtctcc	12	10	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:70171018G>A	ENST00000253925.7	+	4	647	c.432G>A	c.(430-432)gtG>gtA	p.V144V	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.V144V	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	144					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGACCGTGGTGAAGAGACAAG	0.473																																																	0													127	131	130					11																	70171018		2200	4294	6494	SO:0001819	synonymous_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.432G>A	11.37:g.70171018G>A			A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V144	ENST00000253925.7	37	c.432	CCDS31627.1	11																																																																																			PPFIA1	-	NULL		0.473	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	G	NM_003626		70171018	1	no_errors	ENST00000253925	ensembl	human	known	70_37	silent	SNP	0.998	A	A	70171018	G	A	70171018	2	1	185	1	0	0	0	0	0	0	0	1	12333	1277	45	1		1	PPFIA1	11	70171018	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1397858	70171018	64835498	927	35202										
PPFIA1	8500	genome.wustl.edu	37	chr11	70222689	70222689	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accttttggtcatggggactGatagaaggtttgatgaagta	13	4	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:70222689G>A	ENST00000253925.7	+	25	3582	c.3367G>A	c.(3367-3369)Gat>Aat	p.D1123N	AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D1123N	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1123				GTD -> PEF (in Ref. 4; BAA08353). {ECO:0000305}.	cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CATGGGGACTGATAGAAGGTT	0.313																																																	0													178	175	176					11																	70222689		2200	4294	6494	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3367G>A	11.37:g.70222689G>A	ENSP00000253925:p.Asp1123Asn		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D1123N	ENST00000253925.7	37	c.3367	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735969	0.69189	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.18657	2.22;2.2	5.13	4.22	0.49857	Sterile alpha motif/pointed domain (1);	0.063541	0.64402	U	0.000012	T	0.29256	0.0728	M	0.64404	1.975	0.47949	D	0.999557	B;B;B	0.32425	0.226;0.371;0.313	B;B;B	0.39660	0.306;0.194;0.267	T	0.10590	-1.0623	10	0.87932	D	0	.	13.2494	0.60043	0.0763:0.0:0.9237:0.0	.	620;1123;1123	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	N	1123;1123;620	ENSP00000253925:D1123N;ENSP00000374198:D1123N	ENSP00000253925:D1123N	D	+	1	0	PPFIA1	69900337	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	9.046000	0.93817	1.162000	0.42619	0.655000	0.94253	GAT	PPFIA1	-	superfamily_SAM/pointed		0.313	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	G	NM_003626		70222689	1	no_errors	ENST00000253925	ensembl	human	known	70_37	missense	SNP	1.000	A	A	70222689	G	A	70222689	3	1	185	1	0	0	0	0	1	0	0	0	12333	1290	45	1	3461	1	PPFIA1	11	70222689	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	51671	70222689	64783827	928	35203										
C2CD3	26005	genome.wustl.edu	37	chr11	73872475	73872475	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caagtttcttagacgttgatGaaacaatggtaaaaaatcca	7	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:73872475G>A	ENST00000334126.7	-	3	678	c.452C>T	c.(451-453)tCa>tTa	p.S151L	C2CD3_ENST00000539061.1_Missense_Mutation_p.S151L|C2CD3_ENST00000313663.7_Missense_Mutation_p.S151L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	151					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGACGTTGATGAAACAATGGT	0.338																																																	0													85	83	84					11																	73872475		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.452C>T	11.37:g.73872475G>A	ENSP00000334379:p.Ser151Leu		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.S151L	ENST00000334126.7	37	c.452		11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465853	0.84425	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.15718	2.4;2.44	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.45236	0.1332	M	0.76328	2.33	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.38993	-0.9635	10	0.87932	D	0	-9.4865	18.4103	0.90549	0.0:0.0:1.0:0.0	.	151;151	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	L	151	ENSP00000334379:S151L;ENSP00000323339:S151L	ENSP00000289350:S151L	S	-	2	0	C2CD3	73550123	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.132000	0.89603	2.642000	0.89623	0.650000	0.86243	TCA	C2CD3	-	NULL		0.338	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		G	NM_015531		73872475	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	1.000	A	A	73872475	G	A	73872475	3	1	185	1	0	0	0	0	1	0	0	0	2159	1294	45	1	5555	1	C2CD3	11	73872475	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3649786	73872475	61134041	929	35204										
C2CD3	26005	genome.wustl.edu	37	chr11	73881827	73881827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccccagacccttggccttttCgttgtttcatgatgagcccg	9	14	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:73881827C>T	ENST00000334126.7	-	1	237	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	PPME1_ENST00000398427.4_5'Flank|C2CD3_ENST00000539061.1_Missense_Mutation_p.R4Q|C2CD3_ENST00000313663.7_Missense_Mutation_p.R4Q|PPME1_ENST00000328257.8_5'Flank			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	4					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTGGCCTTTTCGTTGTTTCAT	0.557																																																	0													94	80	85					11																	73881827		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.11G>A	11.37:g.73881827C>T	ENSP00000334379:p.Arg4Gln		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.R4Q	ENST00000334126.7	37	c.11		11	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450820	0.43531	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T;T	0.77098	-1.07;-1.07;-1.07	5.47	4.53	0.55603	.	0.088520	0.43579	D	0.000550	T	0.82235	0.4993	L	0.57536	1.79	0.29899	N	0.824523	D;D	0.76494	0.999;0.998	P;P	0.58780	0.703;0.845	T	0.80355	-0.1417	10	0.66056	D	0.02	-3.0479	11.4595	0.50202	0.1799:0.8201:0.0:0.0	.	4;4	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	Q	4	ENSP00000334379:R4Q;ENSP00000323339:R4Q;ENSP00000445933:R4Q	ENSP00000289350:R4Q	R	-	2	0	C2CD3	73559475	0.946000	0.32159	0.916000	0.36221	0.077000	0.17291	2.089000	0.41672	1.242000	0.43836	0.561000	0.74099	CGA	C2CD3	-	NULL		0.557	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73881827	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	0.948	T	T	73881827	C	T	73881827	3	4	185	1	0	0	0	0	1	0	0	0	2159	884	31	1	6004	1	C2CD3	11	73881827	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	9352	73881827	61124689	930	35205										
PGM2L1	283209	genome.wustl.edu	37	chr11	74053662	74053662	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtaggtggttcataacacaaGaaataggaagtttttgaaat	10	3	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:74053662G>A	ENST00000298198.4	-	12	1787	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	492					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CATAACACAAGAAATAGGAAG	0.279																																																	0													73	84	80					11																	74053662		2199	4291	6490	SO:0001819	synonymous_variant	283209			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1476C>T	11.37:g.74053662G>A			Q96MQ7|Q9UIK3	Silent	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III	p.F492	ENST00000298198.4	37	c.1476	CCDS8231.1	11																																																																																			PGM2L1	-	NULL		0.279	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	HGNC	protein_coding	OTTHUMT00000398324.1	G	NM_173582		74053662	-1	no_errors	ENST00000298198	ensembl	human	known	70_37	silent	SNP	1.000	A	A	74053662	G	A	74053662	2	1	185	1	0	0	0	0	0	0	0	1	11823	933	33	1		1	PGM2L1	11	74053662	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	171835	74053662	60952854	931	35206										
POLD3	10714	genome.wustl.edu	37	chr11	74323927	74323927	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcctgttgacttgtagcagtGaagtccaagctagctgtgac	11	9	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:74323927G>A	ENST00000263681.2	+	5	393	c.264G>A	c.(262-264)gtG>gtA	p.V88V	POLD3_ENST00000527458.1_Silent_p.V49V|POLD3_ENST00000532497.1_5'UTR	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	88					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TTGTAGCAGTGAAGTCCAAGC	0.433																																																	0													110	93	99					11																	74323927		2200	4293	6493	SO:0001819	synonymous_variant	10714			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.264G>A	11.37:g.74323927G>A			B7ZAI6|Q32MZ9|Q32N00	Silent	SNP	pfam_DNA_polymerase_subunit_Cdc27	p.V88	ENST00000263681.2	37	c.264	CCDS8233.1	11																																																																																			POLD3	-	pfam_DNA_polymerase_subunit_Cdc27		0.433	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	HGNC	protein_coding	OTTHUMT00000385376.1	G	NM_006591		74323927	1	no_errors	ENST00000263681	ensembl	human	known	70_37	silent	SNP	1.000	A	A	74323927	G	A	74323927	2	1	185	1	0	0	0	0	0	0	0	1	12216	1277	45	1		1	POLD3	11	74323927	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	270265	74323927	60682589	932	35207										
UVRAG	7405	genome.wustl.edu	37	chr11	75776812	75776812	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgattatggtgtctatcttCtgaacaaaaatatagcacag	7	6	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:75776812C>T	ENST00000356136.3	+	13	1526	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	UVRAG_ENST00000532130.1_Silent_p.L57L|UVRAG_ENST00000531818.1_Silent_p.L57L|UVRAG_ENST00000539288.1_Silent_p.L57L|UVRAG_ENST00000528420.1_Silent_p.L328L|UVRAG_ENST00000533454.1_Silent_p.L57L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	429					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TGTCTATCTTCTGAACAAAAA	0.383																																																	0													189	182	184					11																	75776812		2200	4293	6493	SO:0001819	synonymous_variant	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1285C>T	11.37:g.75776812C>T			B3KTC1|O00392	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.L429	ENST00000356136.3	37	c.1285	CCDS8241.1	11																																																																																			UVRAG	-	NULL		0.383	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	C	NM_003369		75776812	1	no_errors	ENST00000356136	ensembl	human	known	70_37	silent	SNP	1.000	T	T	75776812	C	T	75776812	2	4	185	1	0	0	0	0	0	0	0	1	17139	912	32	1		1	UVRAG	11	75776812	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1452885	75776812	59229704	933	35208										
SYTL2	54843	genome.wustl.edu	37	chr11	85435306	85435306	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctctccaaagccaggttcctGaagagtcccttgtccccctg	8	16	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:85435306G>A	ENST00000528231.1	-	8	1737				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Nonsense_Mutation_p.Q732*|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000359152.5_Nonsense_Mutation_p.Q1256*|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Nonsense_Mutation_p.Q732*|SYTL2_ENST00000524452.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			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)		CCAGGTTCCTGAAGAGTCCCT	0.468																																																	0													82	80	81					11																	85435306		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3304C>T	11.37:g.85435306G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.Q1256*	ENST00000528231.1	37	c.3766	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527386	0.27299	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	.	.	.	5.4	4.48	0.54585	.	1.542250	0.03453	N	0.210927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5528	11.0543	0.47909	0.0:0.0:0.6618:0.3382	.	.	.	.	X	1256;732;732;151	.	.	Q	-	1	0	SYTL2	85112954	0.055000	0.20627	0.012000	0.15200	0.001000	0.01503	2.246000	0.43142	1.498000	0.48600	-0.181000	0.13052	CAG	SYTL2	-	NULL		0.468	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85435306	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	nonsense	SNP	0.002	A	A	85435306	G	A	85435306	1	1	185	0	1	0	0	0	0	0	0	0	15513	1299	45	1		1	SYTL2	11	85435306	Intron	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9658494	85435306	49571210	934	35209										
NAALAD2	10003	genome.wustl.edu	37	chr11	89883683	89883683	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgtgaactatgctcgcactGaagactttttcaaactagaa	7	8	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:89883683G>A	ENST00000534061.1	+	5	747	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	NAALAD2_ENST00000321955.4_Missense_Mutation_p.E173K|NAALAD2_ENST00000525171.1_Missense_Mutation_p.E173K|NAALAD2_ENST00000375944.3_Missense_Mutation_p.E173K	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	173					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGCTCGCACTGAAGACTTTTT	0.299																																																	0													84	89	88					11																	89883683		2201	4299	6500	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.517G>A	11.37:g.89883683G>A	ENSP00000432481:p.Glu173Lys		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.E173K	ENST00000534061.1	37	c.517	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908926	0.92107	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.13	5.13	0.70059	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000001	T	0.68906	0.3052	M	0.71920	2.185	0.80722	D	1	B;B;P;D;P	0.76494	0.307;0.175;0.8;0.999;0.833	B;B;B;D;P	0.87578	0.332;0.332;0.354;0.998;0.663	T	0.69397	-0.5156	9	.	.	.	-24.7701	18.6404	0.91393	0.0:0.0:1.0:0.0	.	173;173;173;173;173	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	K	173	ENSP00000432481:E173K;ENSP00000320083:E173K;ENSP00000435249:E173K;ENSP00000365111:E173K	.	E	+	1	0	NAALAD2	89523331	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.572000	0.82409	2.410000	0.81850	0.586000	0.80456	GAA	NAALAD2	-	pfam_Protease-assoc_domain		0.299	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	G	NM_005467		89883683	1	no_errors	ENST00000534061	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89883683	G	A	89883683	3	1	185	1	0	0	0	0	1	0	0	0	10151	1291	45	1	535	1	NAALAD2	11	89883683	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4448377	89883683	45122833	935	35210										
NAALAD2	10003	genome.wustl.edu	37	chr11	89883714	89883714	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaactagaaagagagatggGcatcaactgtactgggaaga	12	6	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:89883714G>C	ENST00000534061.1	+	5	778	c.548G>C	c.(547-549)gGc>gCc	p.G183A	NAALAD2_ENST00000321955.4_Missense_Mutation_p.G183A|NAALAD2_ENST00000525171.1_Missense_Mutation_p.G183A|NAALAD2_ENST00000375944.3_Missense_Mutation_p.G183A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	183					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGAGAGATGGGCATCAACTGT	0.328																																																	0													87	95	93					11																	89883714		2201	4299	6500	SO:0001583	missense	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.548G>C	11.37:g.89883714G>C	ENSP00000432481:p.Gly183Ala		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.G183A	ENST00000534061.1	37	c.548	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309711	0.40895	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.13	-1.44	0.08856	Protease-associated domain, PA (1);	1.342990	0.04573	N	0.393616	T	0.63236	0.2494	M	0.85099	2.735	0.44194	D	0.997016	P;P;B;B;B	0.37122	0.455;0.583;0.041;0.0;0.139	B;B;B;B;B	0.44315	0.365;0.446;0.055;0.001;0.098	T	0.56517	-0.7966	9	.	.	.	-0.1984	8.1998	0.31417	0.3213:0.1425:0.5362:0.0	.	183;183;183;183;183	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	A	183	ENSP00000432481:G183A;ENSP00000320083:G183A;ENSP00000435249:G183A;ENSP00000365111:G183A	.	G	+	2	0	NAALAD2	89523362	1.000000	0.71417	0.509000	0.27700	0.971000	0.66376	1.527000	0.35975	-0.551000	0.06175	-0.482000	0.04802	GGC	NAALAD2	-	pfam_Protease-assoc_domain		0.328	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	G	NM_005467		89883714	1	no_errors	ENST00000534061	ensembl	human	known	70_37	missense	SNP	0.936	C	C	89883714	G	C	89883714	3	2	185	1	0	0	0	0	1	0	0	0	10151	1203	42	4	566	4	NAALAD2	11	89883714	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	31	89883714	45122802	936	35211										
MED17	9440	genome.wustl.edu	37	chr11	93517725	93517725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagcatcgaatcggcctgcGagaagcaggtccatgaggtg	14	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:93517725G>A	ENST00000251871.3	+	1	333	c.46G>A	c.(46-48)Gag>Aag	p.E16K	MED17_ENST00000530819.1_Missense_Mutation_p.E16K	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	16					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCGGCCTGCGAGAAGCAGGT	0.652																																																	0													45	37	39					11																	93517725		2201	4298	6499	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.46G>A	11.37:g.93517725G>A	ENSP00000251871:p.Glu16Lys		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	pfam_Mediator_Med17	p.E16K	ENST00000251871.3	37	c.46	CCDS8295.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.432425	0.97564	.	.	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359	T;T;T	0.58060	0.36;0.36;0.36	5.76	5.76	0.90799	.	0.110861	0.64402	D	0.000002	T	0.71533	0.3351	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.71807	-0.4481	10	0.66056	D	0.02	-29.3588	19.9616	0.97254	0.0:0.0:1.0:0.0	.	16;16	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	K	16	ENSP00000251871:E16K;ENSP00000434459:E16K;ENSP00000431524:E16K	ENSP00000251871:E16K	E	+	1	0	MED17	93157373	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.985000	0.93487	2.724000	0.93272	0.561000	0.74099	GAG	MED17	-	pfam_Mediator_Med17		0.652	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	G	NM_004268		93517725	1	no_errors	ENST00000251871	ensembl	human	known	70_37	missense	SNP	1.000	A	A	93517725	G	A	93517725	3	1	185	1	0	0	0	0	1	0	0	0	9458	1059	37	1	48	1	MED17	11	93517725	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3634011	93517725	41488791	937	35212										
PIWIL4	143689	genome.wustl.edu	37	chr11	94316638	94316638	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagagttgtcaagtgaaactCaaagaggtgagactataaag	11	5	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:94316638C>G	ENST00000299001.6	+	5	749	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	180					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAGTGAAACTCAAAGAGGTGA	0.423																																																	0													170	171	171					11																	94316638		2201	4298	6499	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.538C>G	11.37:g.94316638C>G	ENSP00000299001:p.Gln180Glu		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q180E	ENST00000299001.6	37	c.538	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	C	3.237	-0.156207	0.06544	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.13657	3.17;2.57	5.54	2.53	0.30540	Argonaute/Dicer protein, PAZ (1);	1.577130	0.03385	N	0.201046	T	0.12561	0.0305	L	0.43152	1.355	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.40590	-0.9555	10	0.06365	T	0.9	4.7177	8.1512	0.31141	0.3877:0.5402:0.0:0.0722	.	180	Q7Z3Z4	PIWL4_HUMAN	E	180;111	ENSP00000299001:Q180E;ENSP00000440499:Q111E	ENSP00000299001:Q180E	Q	+	1	0	PIWIL4	93956286	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.035000	0.13797	0.896000	0.36366	-0.175000	0.13238	CAA	PIWIL4	-	superfamily_PAZ		0.423	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	C	NM_152431		94316638	1	no_errors	ENST00000299001	ensembl	human	known	70_37	missense	SNP	0.000	G	G	94316638	C	G	94316638	3	3	185	1	0	0	0	0	1	0	0	0	11984	827	29	1	556	1	PIWIL4	11	94316638	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	798913	94316638	40689878	938	35213										
MAML2	84441	genome.wustl.edu	37	chr11	95825810	95825810	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagcagaagagggcaaggctGaccagttggtaggctggtgc	17	8	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:95825810G>C	ENST00000524717.1	-	2	2669	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	462					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGGCAAGGCTGACCAGTTGGT	0.567			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													61	65	63					11																	95825810		2184	4288	6472	SO:0001587	stop_gained	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1385C>G	11.37:g.95825810G>C	ENSP00000434552:p.Ser462*		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Nonsense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.S462*	ENST00000524717.1	37	c.1385	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	G	48	14.852515	0.99813	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	.	.	.	5.89	5.89	0.94794	.	0.743139	0.12532	N	0.460685	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-1.6769	20.2469	0.98398	0.0:0.0:1.0:0.0	.	.	.	.	X	462	.	ENSP00000412394:S462X	S	-	2	0	MAML2	95465458	1.000000	0.71417	0.355000	0.25773	0.750000	0.42670	8.825000	0.92029	2.781000	0.95711	0.555000	0.69702	TCA	MAML2	-	NULL		0.567	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	G			95825810	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	nonsense	SNP	0.477	C	C	95825810	G	C	95825810	4	2	185	1	0	0	0	0	0	1	0	0	9229	1294	45	1	2101	1	MAML2	11	95825810	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1509172	95825810	39180706	939	35214										
MMP20	9313	genome.wustl.edu	37	chr11	102477320	102477320	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgtcacagcgtcaaaggatGagctggagtcacagaggtca	13	8	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:102477320G>C	ENST00000260228.2	-	6	911	c.899C>G	c.(898-900)tCa>tGa	p.S300*	RP11-817J15.2_ENST00000542119.1_RNA|RP11-817J15.2_ENST00000544115.1_RNA|MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	319					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GTCAAAGGATGAGCTGGAGTC	0.567																																																	0													127	112	117					11																	102477320		2203	4299	6502	SO:0001587	stop_gained	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.899C>G	11.37:g.102477320G>C	ENSP00000260228:p.Ser300*		D3DUA8|Q9H3Q0	Nonsense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.S300*	ENST00000260228.2	37	c.899	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.101371	0.94245	.	.	ENSG00000137674	ENST00000260228	.	.	.	5.45	4.55	0.56014	.	0.677020	0.14949	N	0.289003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4439	0.21865	0.29:0.0:0.71:0.0	.	.	.	.	X	300	.	ENSP00000260228:S300X	S	-	2	0	MMP20	101982530	0.003000	0.15002	0.379000	0.26080	0.791000	0.44710	1.692000	0.37731	1.544000	0.49359	0.650000	0.86243	TCA	MMP20	-	superfamily_Hemopexin/matrixin,pirsf_Pept_M10A_matrix_strom		0.567	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1	G			102477320	-1	no_errors	ENST00000260228	ensembl	human	known	70_37	nonsense	SNP	0.005	C	C	102477320	G	C	102477320	4	2	185	1	0	0	0	0	0	1	0	0	9682	1294	45	1	572	1	MMP20	11	102477320	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6651510	102477320	32529196	940	35215										
CASP1	834	genome.wustl.edu	37	chr11	104899968	104899968	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccagaaactcctactgaatCtttaaaccacaccacaccag	3	15	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:104899968C>G	ENST00000533400.1	-	7	924	c.889G>C	c.(889-891)Gat>Cat	p.D297H	CASP1_ENST00000528974.1_Missense_Mutation_p.D258H|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.D276H|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.D260H|CASP1_ENST00000526568.1_Missense_Mutation_p.D204H|CASP1_ENST00000525825.1_Missense_Mutation_p.D276H|CASP1_ENST00000598974.1_Missense_Mutation_p.D297H|CASP1_ENST00000593315.1_Missense_Mutation_p.D276H|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.D297H	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	297					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CCTACTGAATCTTTAAACCAC	0.403																																					NSCLC(41;1246 1743 4934)												0													68	62	64					11																	104899968		2202	4299	6501	SO:0001583	missense	834			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.889G>C	11.37:g.104899968C>G	ENSP00000433138:p.Asp297His		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.D297H	ENST00000533400.1	37	c.889	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	13.79	2.341031	0.41498	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.48	3.56	0.40772	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.89163	3.01	0.09310	N	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.993;0.996;0.999;0.996;0.998	T	0.39921	-0.9590	10	0.87932	D	0	.	8.3424	0.32252	0.0:0.8926:0.0:0.1074	.	258;297;276;297;260;204	B4DVD8;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	H	146;204;260;297;297;276;276;258	ENSP00000435536:D146H;ENSP00000434250:D204H;ENSP00000432340:D260H;ENSP00000433138:D297H;ENSP00000410076:D297H;ENSP00000376844:D276H;ENSP00000434779:D276H;ENSP00000434259:D258H	ENSP00000376844:D276H	D	-	1	0	CASP1	104405178	0.969000	0.33509	0.017000	0.16124	0.019000	0.09904	2.252000	0.43196	1.241000	0.43820	0.557000	0.71058	GAT	CASP1	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta		0.403	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	C	NM_033292		104899968	-1	no_errors	ENST00000436863	ensembl	human	known	70_37	missense	SNP	0.018	G	G	104899968	C	G	104899968	3	3	185	1	0	0	0	0	1	0	0	0	2673	913	32	1	337	1	CASP1	11	104899968	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2422648	104899968	30106548	941	35216										
CWF19L2	143884	genome.wustl.edu	37	chr11	107260832	107260832	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctcataaagagcttgttttGattttctgctgttcccatct	6	9	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:107260832G>C	ENST00000282251.5	-	12	1867	c.1840C>G	c.(1840-1842)Caa>Gaa	p.Q614E	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q614E	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	614							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGCTTGTTTTGATTTTCTGCT	0.348																																																	0													158	128	138					11																	107260832		2201	4296	6497	SO:0001583	missense	143884			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1840C>G	11.37:g.107260832G>C	ENSP00000282251:p.Gln614Glu		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Q614E	ENST00000282251.5	37	c.1840	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195776	0.58126	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.27256	1.68;1.68	5.93	5.93	0.95920	.	0.049225	0.85682	D	0.000000	T	0.35508	0.0934	M	0.80847	2.515	0.53688	D	0.999975	B	0.17268	0.021	B	0.18263	0.021	T	0.09640	-1.0665	10	0.28530	T	0.3	-9.079	17.8445	0.88725	0.0:0.0:1.0:0.0	.	614	Q2TBE0	C19L2_HUMAN	E	614	ENSP00000282251:Q614E;ENSP00000387533:Q614E	ENSP00000282251:Q614E	Q	-	1	0	CWF19L2	106766042	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	7.122000	0.77169	2.808000	0.96608	0.655000	0.94253	CAA	CWF19L2	-	NULL		0.348	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	G	NM_152434		107260832	-1	no_errors	ENST00000282251	ensembl	human	known	70_37	missense	SNP	1.000	C	C	107260832	G	C	107260832	3	2	185	1	0	0	0	0	1	0	0	0	4077	1299	45	1	872	1	CWF19L2	11	107260832	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2360864	107260832	27745684	942	35217										
ALKBH8	91801	genome.wustl.edu	37	chr11	107375622	107375622	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtacatcttgagaataaaaaGaagtcctgttaacatgaaca	7	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:107375622G>C	ENST00000428149.2	-	12	1908	c.1757C>G	c.(1756-1758)tCt>tGt	p.S586C	ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Missense_Mutation_p.S589C|ALKBH8_ENST00000389568.3_Missense_Mutation_p.S586C	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	586	Methyltransferase domain.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AGAATAAAAAGAAGTCCTGTT	0.458																																																	0													83	73	76					11																	107375622		692	1591	2283	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1757C>G	11.37:g.107375622G>C	ENSP00000415885:p.Ser586Cys		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.S589C	ENST00000428149.2	37	c.1766	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444988	0.43429	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.46819	0.86;0.86;0.86	5.51	3.48	0.39840	.	0.267550	0.43579	N	0.000543	T	0.38772	0.1053	L	0.38531	1.155	0.37151	D	0.902167	B;B	0.15473	0.007;0.013	B;B	0.15870	0.006;0.014	T	0.41034	-0.9531	10	0.41790	T	0.15	-13.1458	14.4674	0.67492	0.0:0.2898:0.7102:0.0	.	586;589	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	C	586;586;589	ENSP00000415885:S586C;ENSP00000374219:S586C;ENSP00000397673:S589C	ENSP00000374219:S586C	S	-	2	0	ALKBH8	106880832	0.998000	0.40836	0.996000	0.52242	0.970000	0.65996	3.119000	0.50422	1.293000	0.44690	0.650000	0.86243	TCT	ALKBH8	-	NULL		0.458	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	G	NM_138775		107375622	-1	no_errors	ENST00000417449	ensembl	human	known	70_37	missense	SNP	0.997	C	C	107375622	G	C	107375622	3	2	185	1	0	0	0	0	1	0	0	0	533	942	33	1	241	1	ALKBH8	11	107375622	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	114790	107375622	27630894	943	35218										
ATM	472	genome.wustl.edu	37	chr11	108122745	108122745	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaatagcacagaagtgcctCcaattcttcacaggtaattt	6	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:108122745C>G	ENST00000452508.2	+	12	1978	c.1789C>G	c.(1789-1791)Cca>Gca	p.P597A	ATM_ENST00000278616.4_Missense_Mutation_p.P597A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	597					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGAAGTGCCTCCAATTCTTCA	0.343			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													76	83	81					11																	108122745		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1789C>G	11.37:g.108122745C>G	ENSP00000388058:p.Pro597Ala		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P597A	ENST00000452508.2	37	c.1789	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857353	0.71834	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.58797	0.31;0.31;0.31	6.03	6.03	0.97812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.67953	2.075	0.48762	D	0.999704	D	0.67145	0.996	P	0.60609	0.877	T	0.67968	-0.5533	10	0.33940	T	0.23	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	597	Q13315	ATM_HUMAN	A	597	ENSP00000435747:P597A;ENSP00000278616:P597A;ENSP00000388058:P597A	ENSP00000278616:P597A	P	+	1	0	ATM	107627955	0.998000	0.40836	0.996000	0.52242	0.616000	0.37450	5.359000	0.66074	2.868000	0.98415	0.557000	0.71058	CCA	ATM	-	superfamily_ARM-type_fold		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	C	NM_000051		108122745	1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108122745	C	G	108122745	3	3	185	1	0	0	0	0	1	0	0	0	1110	855	30	1	1827	1	ATM	11	108122745	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	747123	108122745	26883771	944	35219										
C11orf65	160140	genome.wustl.edu	37	chr11	108276164	108276164	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcatcaacttacatttgcctCatccactctatttttctaag	2	12	5	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:108276164C>T	ENST00000529391.1	-	5	561	c.552G>A	c.(550-552)atG>atA	p.M184I	C11orf65_ENST00000525729.1_Missense_Mutation_p.M135I|C11orf65_ENST00000393084.1_Missense_Mutation_p.M184I|C11orf65_ENST00000526725.1_5'UTR			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	184										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACATTTGCCTCATCCACTCTA	0.343																																																	0													134	129	130					11																	108276164		2200	4298	6498	SO:0001583	missense	160140			BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.552G>A	11.37:g.108276164C>T	ENSP00000436400:p.Met184Ile		B4DZU4|Q6PCA8	Missense_Mutation	SNP	NULL	p.M184I	ENST00000529391.1	37	c.552	CCDS8340.1	11	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905277	0.72868	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.18	5.18	0.71444	.	0.046925	0.85682	D	0.000000	T	0.55593	0.1930	M	0.73217	2.22	0.41292	D	0.986988	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	T	0.58836	-0.7566	10	0.66056	D	0.02	-24.9898	16.5372	0.84375	0.0:1.0:0.0:0.0	.	135;184	B4DZU4;Q8NCR3	.;CK065_HUMAN	I	135;184;184;166	ENSP00000433395:M135I;ENSP00000436400:M184I;ENSP00000376799:M184I;ENSP00000434500:M166I	ENSP00000376799:M184I	M	-	3	0	C11orf65	107781374	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.919000	0.63383	2.564000	0.86499	0.563000	0.77884	ATG	C11orf65	-	NULL		0.343	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf65	HGNC	protein_coding	OTTHUMT00000390010.3	C	NM_152587		108276164	-1	no_errors	ENST00000393084	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108276164	C	T	108276164	3	4	185	1	0	0	0	0	1	0	0	0	1659	826	29	1	405	1	C11orf65	11	108276164	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	153419	108276164	26730352	945	35220										
SIK2	23235	genome.wustl.edu	37	chr11	111573944	111573944	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tagattgcgagcaccttatcCgaaggatgttggtcctagac	11	9	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:111573944C>T	ENST00000304987.3	+	7	918	c.745C>T	c.(745-747)Cga>Tga	p.R249*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GCACCTTATCCGAAGGATGTT	0.428																																																	0													124	111	115					11																	111573944		2201	4297	6498	SO:0001587	stop_gained	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.745C>T	11.37:g.111573944C>T	ENSP00000305976:p.Arg249*		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R249*	ENST00000304987.3	37	c.745	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.164151	0.97338	.	.	ENSG00000170145	ENST00000304987	.	.	.	5.57	3.5	0.40072	.	0.067885	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1606	0.31196	0.3337:0.5895:0.0:0.0768	.	.	.	.	X	249	.	ENSP00000305976:R249X	R	+	1	2	SIK2	111079154	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.812000	0.55628	1.138000	0.42230	0.557000	0.71058	CGA	SIK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom		0.428	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	C	NM_015191		111573944	1	no_errors	ENST00000304987	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	111573944	C	T	111573944	4	4	185	1	0	0	0	0	0	1	0	0	14348	644	23	2	771	2	SIK2	11	111573944	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3297780	111573944	23432572	946	35221										
SIK2	23235	genome.wustl.edu	37	chr11	111594257	111594257	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctttcttcagaagcagtctCaactgcaggcctattttaat	6	10	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:111594257C>G	ENST00000304987.3	+	15	2358	c.2185C>G	c.(2185-2187)Caa>Gaa	p.Q729E		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	729					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAAGCAGTCTCAACTGCAGGC	0.463																																																	0													66	76	73					11																	111594257		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2185C>G	11.37:g.111594257C>G	ENSP00000305976:p.Gln729Glu		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q729E	ENST00000304987.3	37	c.2185	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341118	0.81911	.	.	ENSG00000170145	ENST00000304987	T	0.76709	-1.04	5.77	5.77	0.91146	.	0.115474	0.64402	D	0.000013	D	0.86711	0.5998	M	0.61703	1.905	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	D	0.85779	0.1360	10	0.49607	T	0.09	.	19.5931	0.95523	0.0:1.0:0.0:0.0	.	729	Q9H0K1	SIK2_HUMAN	E	729	ENSP00000305976:Q729E	ENSP00000305976:Q729E	Q	+	1	0	SIK2	111099467	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.313000	0.78978	2.728000	0.93425	0.655000	0.94253	CAA	SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2		0.463	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	C	NM_015191		111594257	1	no_errors	ENST00000304987	ensembl	human	known	70_37	missense	SNP	1.000	G	G	111594257	C	G	111594257	3	3	185	1	0	0	0	0	1	0	0	0	14348	827	29	1	2243	1	SIK2	11	111594257	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	20313	111594257	23412259	947	35222										
C11orf57	55216	genome.wustl.edu	37	chr11	111951136	111951136	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctgctttctcttttagccgGatgcgcagtgatggttttga	11	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:111951136G>A	ENST00000280352.9	+	4	810	c.174G>A	c.(172-174)cgG>cgA	p.R58R	C11orf57_ENST00000530104.1_Silent_p.R58R|C11orf57_ENST00000532163.1_Silent_p.R29R|C11orf57_ENST00000393047.3_Silent_p.R58R|C11orf57_ENST00000420986.2_Silent_p.R58R	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	58										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CTTTTAGCCGGATGCGCAGTG	0.383																																																	0													80	83	82					11																	111951136		2201	4297	6498	SO:0001819	synonymous_variant	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.174G>A	11.37:g.111951136G>A			Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	NULL	p.D61N	ENST00000280352.9	37	c.181	CCDS41715.1	11																																																																																			C11orf57	-	NULL		0.383	C11orf57-001	KNOWN	basic|CCDS	protein_coding	C11orf57	HGNC	protein_coding	OTTHUMT00000316852.1	G	NM_018195		111951136	1	no_errors	ENST00000524989	ensembl	human	known	70_37	missense	SNP	1.000	A	A	111951136	G	A	111951136	2	1	185	1	0	0	0	0	0	0	0	1	1654	1161	41	1		1	C11orf57	11	111951136	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	356879	111951136	23055380	948	35223										
HTR3A	3359	genome.wustl.edu	37	chr11	113852023	113852023	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atctgggtcccggacattctCatcaatgagttgtgagtacc	10	10	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:113852023C>T	ENST00000504030.2	+	4	808	c.363C>T	c.(361-363)ctC>ctT	p.L121L	HTR3A_ENST00000355556.2_Silent_p.L127L|HTR3A_ENST00000506841.2_Silent_p.L121L|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Silent_p.L106L|HTR3A_ENST00000375498.2_Silent_p.L127L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	121					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CGGACATTCTCATCAATGAGT	0.517																																																	0													113	79	91					11																	113852023		2201	4296	6497	SO:0001819	synonymous_variant	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.363C>T	11.37:g.113852023C>T			B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L127	ENST00000504030.2	37	c.381		11																																																																																			HTR3A	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.517	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2	C	NM_000869		113852023	1	no_errors	ENST00000355556	ensembl	human	known	70_37	silent	SNP	1.000	T	T	113852023	C	T	113852023	2	4	185	1	0	0	0	0	0	0	0	1	7464	813	29	1		1	HTR3A	11	113852023	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1900887	113852023	21154493	949	35224										
SIDT2	51092	genome.wustl.edu	37	chr11	117054546	117054546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggtggtggtggtgaagaccGaagaccaagcctgcgggggc	19	8	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:117054546G>A	ENST00000324225.4	+	7	1285	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Missense_Mutation_p.E252K	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	252					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGTGAAGACCGAAGACCAAGC	0.512																																																	0													93	91	92					11																	117054546		2201	4296	6497	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.754G>A	11.37:g.117054546G>A	ENSP00000314023:p.Glu252Lys		Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.E252K	ENST00000324225.4	37	c.754	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686971	0.88639	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.80616	2.505	0.80722	D	1	D;P;P;D	0.64830	0.974;0.903;0.575;0.994	P;B;B;D	0.63381	0.86;0.394;0.442;0.914	T	0.52786	-0.8529	10	0.51188	T	0.08	-15.4797	19.0823	0.93187	0.0:0.0:1.0:0.0	.	252;252;252;252	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	K	252;252;252;102	ENSP00000314023:E252K;ENSP00000278951:E252K;ENSP00000399635:E252K;ENSP00000436983:E102K	ENSP00000278951:E252K	E	+	1	0	SIDT2	116559756	1.000000	0.71417	0.957000	0.39632	0.930000	0.56654	9.043000	0.93799	2.840000	0.97914	0.596000	0.82720	GAA	SIDT2	-	NULL		0.512	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	G	NM_015996		117054546	1	no_errors	ENST00000278951	ensembl	human	known	70_37	missense	SNP	0.999	A	A	117054546	G	A	117054546	3	1	185	1	0	0	0	0	1	0	0	0	14333	1059	37	1	780	1	SIDT2	11	117054546	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3202523	117054546	17951970	950	35225										
IFT46	56912	genome.wustl.edu	37	chr11	118425999	118425999	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agagttccttaatttcagcaGaaactggcaaatgctcatag	8	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:118425999G>A	ENST00000264021.3	-	5	642	c.224C>T	c.(223-225)tCt>tTt	p.S75F	IFT46_ENST00000264020.2_Missense_Mutation_p.S126F|IFT46_ENST00000530872.1_Missense_Mutation_p.S126F	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	75					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AATTTCAGCAGAAACTGGCAA	0.502																																																	0													110	107	108					11																	118425999		2200	4295	6495	SO:0001583	missense	56912			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.224C>T	11.37:g.118425999G>A	ENSP00000264021:p.Ser75Phe		A8K0F6|Q9H6V5	Missense_Mutation	SNP	pfam_Intraflagellar_transp_cmplxB	p.S126F	ENST00000264021.3	37	c.377	CCDS53718.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606797	0.87157	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939;ENST00000534156;ENST00000534114;ENST00000528378	T;T;T;T;T;T;T	0.56275	0.67;0.66;0.66;0.67;0.67;0.47;0.5	5.73	5.73	0.89815	.	0.110163	0.64402	D	0.000019	T	0.75953	0.3920	M	0.82716	2.605	0.51767	D	0.999935	D;D;D	0.71674	0.998;0.996;0.996	D;P;D	0.68943	0.961;0.832;0.914	T	0.78677	-0.2111	10	0.87932	D	0	1.0173	19.9025	0.96993	0.0:0.0:1.0:0.0	.	126;75;126	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	F	75;126;126;75;75;126;75	ENSP00000264021:S75F;ENSP00000264020:S126F;ENSP00000432384:S126F;ENSP00000435826:S75F;ENSP00000434175:S75F;ENSP00000432982:S126F;ENSP00000435278:S75F	ENSP00000264020:S126F	S	-	2	0	IFT46	117931209	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.882000	0.69714	2.722000	0.93159	0.655000	0.94253	TCT	IFT46	-	pfam_Intraflagellar_transp_cmplxB		0.502	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT46	HGNC	protein_coding	OTTHUMT00000389627.1	G	NM_020153		118425999	-1	no_errors	ENST00000264020	ensembl	human	known	70_37	missense	SNP	0.997	A	A	118425999	G	A	118425999	3	1	185	1	0	0	0	0	1	0	0	0	7580	942	33	1	722	1	IFT46	11	118425999	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1371453	118425999	16580517	951	35226										
PDZD3	79849	genome.wustl.edu	37	chr11	119058009	119058009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcatccgggccagcagccctCgggtgttgctgacagtattg	14	12	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:119058009C>T	ENST00000531114.1	+	3	1108	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	PDZD3_ENST00000392817.2_Missense_Mutation_p.R187W|PDZD3_ENST00000355547.5_Missense_Mutation_p.R121W|PDZD3_ENST00000525131.1_Missense_Mutation_p.R108W|PDZD3_ENST00000322712.4_Missense_Mutation_p.R121W			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	187	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CAGCAGCCCTCGGGTGTTGCT	0.652																																																	0													20	19	20					11																	119058009		2200	4295	6495	SO:0001583	missense	79849			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.559C>T	11.37:g.119058009C>T	ENSP00000431164:p.Arg187Trp		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R187W	ENST00000531114.1	37	c.559		11	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040969	0.75732	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.66	2.52	0.30459	PDZ/DHR/GLGF (4);	0.208991	0.43110	D	0.000619	T	0.51075	0.1653	M	0.67700	2.07	0.40909	D	0.984212	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.991;0.994;0.985;0.991	T	0.56335	-0.7996	10	0.72032	D	0.01	-27.3883	13.0077	0.58715	0.4236:0.5763:0.0:0.0	.	108;187;121;121	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	W	108;187;121;121;121;187	ENSP00000434559:R108W;ENSP00000431164:R187W;ENSP00000347742:R121W;ENSP00000327107:R121W;ENSP00000376564:R187W	ENSP00000327107:R121W	R	+	1	2	PDZD3	118563219	0.837000	0.29446	0.994000	0.49952	0.880000	0.50808	1.314000	0.33597	0.699000	0.31761	-0.182000	0.12963	CGG	PDZD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.652	PDZD3-004	KNOWN	basic	protein_coding	PDZD3	HGNC	protein_coding	OTTHUMT00000388471.1	C	NM_024791		119058009	1	no_errors	ENST00000392817	ensembl	human	known	70_37	missense	SNP	0.983	T	T	119058009	C	T	119058009	3	4	185	1	0	0	0	0	1	0	0	0	11726	875	31	1	379	1	PDZD3	11	119058009	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	632010	119058009	15948507	952	35227										
TECTA	7007	genome.wustl.edu	37	chr11	120998861	120998861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caggtgctgcacacctttgaCggcgcctcctacgccttccc	9	18	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:120998861C>T	ENST00000392793.1	+	9	2446	c.2175C>T	c.(2173-2175)gaC>gaT	p.D725D	TECTA_ENST00000264037.2_Silent_p.D725D			O75443	TECTA_HUMAN	tectorin alpha	725	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACACCTTTGACGGCGCCTCCT	0.627																																																	0													96	83	87					11																	120998861		2203	4299	6502	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2175C>T	11.37:g.120998861C>T				Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.D725	ENST00000392793.1	37	c.2175	CCDS8434.1	11																																																																																			TECTA	-	pfam_VWF_type-D,smart_VWF_type-D		0.627	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	C	NM_005422		120998861	1	no_errors	ENST00000264037	ensembl	human	known	70_37	silent	SNP	0.245	T	T	120998861	C	T	120998861	2	4	185	1	0	0	0	0	0	0	0	1	15777	535	19	2		2	TECTA	11	120998861	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1940852	120998861	14007655	953	35228										
SORL1	6653	genome.wustl.edu	37	chr11	121358831	121358831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttccatcccatttcgggcaGctgatctcctcctacacagt	6	15	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:121358831G>A	ENST00000260197.7	+	4	748	c.619G>A	c.(619-621)Gct>Act	p.A207T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	207					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATTTCGGGCAGCTGATCTCCT	0.512																																																	0													250	234	239					11																	121358831		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.619G>A	11.37:g.121358831G>A	ENSP00000260197:p.Ala207Thr		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A207T	ENST00000260197.7	37	c.619	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131741	0.06753	.	.	ENSG00000137642	ENST00000260197	T	0.29655	1.56	5.93	5.93	0.95920	VPS10 (1);	0.320832	0.33553	N	0.004792	T	0.09818	0.0241	N	0.01168	-0.975	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32745	-0.9895	10	0.09084	T	0.74	.	9.3155	0.37932	0.0714:0.0:0.7832:0.1454	.	207	Q92673	SORL_HUMAN	T	207	ENSP00000260197:A207T	ENSP00000260197:A207T	A	+	1	0	SORL1	120864041	1.000000	0.71417	0.897000	0.35233	0.446000	0.32137	4.071000	0.57556	2.812000	0.96745	0.555000	0.69702	GCT	SORL1	-	smart_VPS10		0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121358831	1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	0.972	A	A	121358831	G	A	121358831	3	1	185	1	0	0	0	0	1	0	0	0	14964	971	34	4	633	4	SORL1	11	121358831	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	359970	121358831	13647685	954	35229										
SORL1	6653	genome.wustl.edu	37	chr11	121466404	121466404	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgagttcgaatgccaccaacCgaagacgtgtattcccaact	8	12	0	2	rs544390676		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:121466404C>G	ENST00000260197.7	+	32	4571	c.4442C>G	c.(4441-4443)cCg>cGg	p.P1481R	SORL1_ENST00000532694.1_Missense_Mutation_p.P327R|SORL1_ENST00000534286.1_Missense_Mutation_p.P391R|SORL1_ENST00000525532.1_Missense_Mutation_p.P425R|SORL1_ENST00000527934.1_Missense_Mutation_p.P96R	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1481	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCCACCAACCGAAGACGTGT	0.507																																																	0													61	47	52					11																	121466404		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4442C>G	11.37:g.121466404C>G	ENSP00000260197:p.Pro1481Arg		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P1481R	ENST00000260197.7	37	c.4442	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	C	8.349	0.830448	0.16749	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.38	5.38	0.77491	.	0.131904	0.51477	D	0.000086	D	0.92417	0.7593	N	0.16266	0.395	0.32463	N	0.543891	D;B	0.64830	0.994;0.384	P;B	0.62649	0.905;0.187	D	0.90803	0.4695	10	0.26408	T	0.33	.	9.1743	0.37102	0.0:0.7723:0.1486:0.0791	.	96;1481	E9PKB0;Q92673	.;SORL_HUMAN	R	1481;425;327;391;96	ENSP00000260197:P1481R;ENSP00000434634:P425R;ENSP00000432131:P327R;ENSP00000436447:P391R;ENSP00000435405:P96R	ENSP00000260197:P1481R	P	+	2	0	SORL1	120971614	0.973000	0.33851	0.288000	0.24862	0.112000	0.19704	2.551000	0.45820	2.509000	0.84616	0.655000	0.94253	CCG	SORL1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	C	NM_003105		121466404	1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	0.635	G	G	121466404	C	G	121466404	3	3	185	1	0	0	0	0	1	0	0	0	14964	652	23	2	4568	2	SORL1	11	121466404	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	107573	121466404	13540112	955	35230										
SORL1	6653	genome.wustl.edu	37	chr11	121483498	121483498	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttgacacccacaagcaagaGaggagaactttgaacttccg	9	10	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:121483498G>C	ENST00000260197.7	+	40	5505	c.5376G>C	c.(5374-5376)gaG>gaC	p.E1792D	SORL1_ENST00000532694.1_Missense_Mutation_p.E638D|SORL1_ENST00000534286.1_Missense_Mutation_p.E702D|SORL1_ENST00000525532.1_Missense_Mutation_p.E736D|SORL1_ENST00000527934.1_Missense_Mutation_p.E407D	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1792	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACAAGCAAGAGAGGAGAACTT	0.493																																																	0													127	98	108					11																	121483498		2202	4299	6501	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5376G>C	11.37:g.121483498G>C	ENSP00000260197:p.Glu1792Asp		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E1792D	ENST00000260197.7	37	c.5376	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504181	0.44558	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.91843	-2.92;-2.68;-2.32;-2.34;-2.23	5.76	0.568	0.17333	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.061428	0.64402	D	0.000007	D	0.87597	0.6217	N	0.14661	0.345	0.42515	D	0.992987	P;D	0.63880	0.935;0.993	B;P	0.57548	0.388;0.823	T	0.82426	-0.0463	10	0.23302	T	0.38	.	9.6759	0.40041	0.5134:0.0:0.4866:0.0	.	407;1792	E9PKB0;Q92673	.;SORL_HUMAN	D	1792;736;638;702;407	ENSP00000260197:E1792D;ENSP00000434634:E736D;ENSP00000432131:E638D;ENSP00000436447:E702D;ENSP00000435405:E407D	ENSP00000260197:E1792D	E	+	3	2	SORL1	120988708	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.055000	0.30467	0.308000	0.22923	0.655000	0.94253	GAG	SORL1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121483498	1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	0.998	C	C	121483498	G	C	121483498	3	2	185	1	0	0	0	0	1	0	0	0	14964	933	33	1	5534	1	SORL1	11	121483498	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	17094	121483498	13523018	956	35231										
BLID	414899	genome.wustl.edu	37	chr11	121986323	121986323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttacagggcctcagcagagGaattgcataacaatgtaact	9	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:121986323G>A	ENST00000560104.1	-	1	600	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	103					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		CTCAGCAGAGGAATTGCATAA	0.448																																																	0													102	98	99					11																	121986323		2202	4299	6501	SO:0001583	missense	414899			AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"breast cancer cell 2"	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.308C>T	11.37:g.121986323G>A	ENSP00000453153:p.Ser103Phe		A1L416	Missense_Mutation	SNP	NULL	p.S103F	ENST00000560104.1	37	c.308	CCDS31693.1	11	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681475	0.47991	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	3.52	2.61	0.31194	.	.	.	.	.	T	0.35068	0.0919	N	0.08118	0	0.18873	N	0.999981	D	0.76494	0.999	D	0.79784	0.993	T	0.10451	-1.0629	8	0.87932	D	0	.	6.5886	0.22634	0.1296:0.0:0.8704:0.0	.	103	Q8IZY5	BLID_HUMAN	F	103	.	ENSP00000448995:S103F	S	-	2	0	BLID;AP001924.1	121491533	0.323000	0.24643	0.503000	0.27626	0.672000	0.39443	2.104000	0.41815	1.060000	0.40578	0.591000	0.81541	TCC	BLID	-	NULL		0.448	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLID	HGNC	protein_coding	OTTHUMT00000387656.1	G	NM_001001786		121986323	-1	no_errors	ENST00000560104	ensembl	human	known	70_37	missense	SNP	0.594	A	A	121986323	G	A	121986323	3	1	185	1	0	0	0	0	1	0	0	0	1444	1174	41	1	22	1	BLID	11	121986323	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	502825	121986323	13020193	957	35232										
HSPA8	3312	genome.wustl.edu	37	chr11	122930607	122930607	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaccattcggttgtcaaaatCttctccacccaagtgggtgt	9	11	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:122930607C>A	ENST00000532636.1	-	5	813	c.694G>T	c.(694-696)Gat>Tat	p.D232Y	HSPA8_ENST00000534624.1_Missense_Mutation_p.D232Y|HSPA8_ENST00000453788.2_Missense_Mutation_p.D232Y|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.D232Y|SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.D213Y|HSPA8_ENST00000534319.1_5'UTR			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	232	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGTCAAAATCTTCTCCACCC	0.463																																					Colon(21;486 594 5900 6733 14272)												0													65	63	63					11																	122930607		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.694G>T	11.37:g.122930607C>A	ENSP00000437125:p.Asp232Tyr		Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D232Y	ENST00000532636.1	37	c.694	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832036	0.71258	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292	T;T;T;T;T;T	0.01272	5.07;5.07;5.07;5.07;5.07;5.07	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	H	0.99996	5.45	0.80722	D	1	P;B;B;P	0.44627	0.839;0.035;0.028;0.839	B;B;B;B	0.41946	0.371;0.009;0.005;0.371	T	0.56384	-0.7988	10	0.87932	D	0	-20.3621	17.7554	0.88447	0.0:1.0:0.0:0.0	.	232;232;232;232	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	Y	232;232;232;232;213;172	ENSP00000437125:D232Y;ENSP00000432083:D232Y;ENSP00000404372:D232Y;ENSP00000227378:D232Y;ENSP00000433584:D213Y;ENSP00000432884:D172Y	ENSP00000227378:D232Y	D	-	1	0	HSPA8	122435817	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.754000	0.85163	2.233000	0.73108	0.561000	0.74099	GAT	HSPA8	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122930607	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	1.000	A	A	122930607	C	A	122930607	3	1	185	1	0	0	0	0	1	0	0	0	7436	913	32	3	1266	3	HSPA8	11	122930607	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	944284	122930607	12075909	958	35233										
HSPA8	3312	genome.wustl.edu	37	chr11	122931493	122931493	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcatcaaatctgcgtccaatCagacgtttggcatctgtaaa	7	10	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:122931493C>T	ENST00000532636.1	-	3	338	c.219G>A	c.(217-219)ctG>ctA	p.L73L	HSPA8_ENST00000534624.1_Silent_p.L73L|HSPA8_ENST00000453788.2_Silent_p.L73L|HSPA8_ENST00000533540.1_Silent_p.L73L|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Silent_p.L73L|SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Silent_p.L73L|HSPA8_ENST00000534319.1_5'Flank			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	73					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCGTCCAATCAGACGTTTGG	0.403																																					Colon(21;486 594 5900 6733 14272)												0													71	72	72					11																	122931493		2202	4299	6501	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.219G>A	11.37:g.122931493C>T			Q9H3R6	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.L73	ENST00000532636.1	37	c.219	CCDS8440.1	11																																																																																			HSPA8	-	pfam_Hsp_70_fam		0.403	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122931493	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	silent	SNP	1.000	T	T	122931493	C	T	122931493	2	4	185	1	0	0	0	0	0	0	0	1	7436	813	29	1		1	HSPA8	11	122931493	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	886	122931493	12075023	959	35234										
TMEM225	338661	genome.wustl.edu	37	chr11	123756083	123756083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttaagactacggcccaggagGagaaaagtatgttcataccc	10	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:123756083G>A	ENST00000375026.2	-	1	266	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	17					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGCCCAGGAGGAGAAAAGTAT	0.408																																																	0													101	93	95					11																	123756083		2202	4299	6501	SO:0001583	missense	338661			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.50C>T	11.37:g.123756083G>A	ENSP00000364166:p.Ser17Phe			Missense_Mutation	SNP	NULL	p.S17F	ENST00000375026.2	37	c.50	CCDS31697.1	11	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644468	0.67244	.	.	ENSG00000204300	ENST00000375026	T	0.43688	0.94	4.87	4.87	0.63330	.	0.141532	0.33477	N	0.004863	T	0.52500	0.1738	L	0.32530	0.975	0.33406	D	0.577974	D	0.89917	1.0	D	0.76575	0.988	T	0.63611	-0.6598	10	0.87932	D	0	-19.4395	13.6897	0.62537	0.0:0.0:1.0:0.0	.	17	Q6GV28	TM225_HUMAN	F	17	ENSP00000364166:S17F	ENSP00000364166:S17F	S	-	2	0	TMEM225	123261293	1.000000	0.71417	0.465000	0.27155	0.024000	0.10985	3.697000	0.54764	2.686000	0.91538	0.655000	0.94253	TCC	TMEM225	-	NULL		0.408	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM225	HGNC	protein_coding	OTTHUMT00000387260.1	G	NM_001013743		123756083	-1	no_errors	ENST00000375026	ensembl	human	known	70_37	missense	SNP	0.651	A	A	123756083	G	A	123756083	3	1	185	1	0	0	0	0	1	0	0	0	16177	1174	41	1	643	1	TMEM225	11	123756083	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	824590	123756083	11250433	960	35235										
OR10G4	390264	genome.wustl.edu	37	chr11	123886816	123886816	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agatccagcactacttctgtGacgcaccgcccatcctgaaa	7	15	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:123886816G>A	ENST00000320891.4	+	1	535	c.535G>A	c.(535-537)Gac>Aac	p.D179N		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTACTTCTGTGACGCACCGCC	0.547																																																	0													190	163	172					11																	123886816		2201	4297	6498	SO:0001583	missense	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.535G>A	11.37:g.123886816G>A	ENSP00000325076:p.Asp179Asn		Q6IEW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D179N	ENST00000320891.4	37	c.535	CCDS31702.1	11	.	.	.	.	.	.	.	.	.	.	g	14.46	2.542355	0.45280	.	.	ENSG00000254737	ENST00000320891	T	0.00188	8.59	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000205	T	0.00724	0.0024	M	0.90977	3.165	0.34833	D	0.73988	D	0.89917	1.0	D	0.97110	1.0	T	0.56637	-0.7946	10	0.87932	D	0	.	14.8426	0.70237	0.0:0.0:1.0:0.0	.	179	Q8NGN3	O10G4_HUMAN	N	179	ENSP00000325076:D179N	ENSP00000325076:D179N	D	+	1	0	OR10G4	123392026	1.000000	0.71417	0.790000	0.31976	0.034000	0.12701	4.353000	0.59411	1.878000	0.54408	0.580000	0.79431	GAC	OR10G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.547	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1	G	NM_001004462		123886816	1	no_errors	ENST00000320891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123886816	G	A	123886816	3	1	185	1	0	0	0	0	1	0	0	0	10925	1290	45	1	537	1	OR10G4	11	123886816	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	130733	123886816	11119700	961	35236										
CDON	50937	genome.wustl.edu	37	chr11	125880590	125880590	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aactggcttgaatccaccgtCtattaaaaaagtaattcaca	5	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:125880590C>G	ENST00000392693.3	-	8	1326		c.e8-1		CDON_ENST00000263577.7_Splice_Site	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated						anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AATCCACCGTCTATTAAAAAA	0.403																																																	0													41	41	41					11																	125880590		2201	4299	6500	SO:0001630	splice_region_variant	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1199-1G>C	11.37:g.125880590C>G			O14631	Splice_Site	SNP	-	e7-1	ENST00000392693.3	37	c.1199-1	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510308	0.44660	.	.	ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000534661	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9328	0.89004	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDON	125385800	0.982000	0.34865	0.995000	0.50966	0.511000	0.34104	4.917000	0.63369	2.312000	0.78011	0.585000	0.79938	.	CDON	-	-		0.403	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	C	NM_016952	Intron	125880590	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	splice_site	SNP	0.993	G	G	125880590	C	G	125880590	5	3	185	1	0	0	0	0	0	0	1	0	3175	927	32	1	2648	1	CDON	11	125880590	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1993774	125880590	9125926	962	35237										
ST14	6768	genome.wustl.edu	37	chr11	130078419	130078419	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcatctcccaccccttcttCaatgacttcaccttcgacta	2	17	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:130078419C>T	ENST00000278742.5	+	17	2527	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	703	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ACCCCTTCTTCAATGACTTCA	0.647																																																	0													81	74	76					11																	130078419		2201	4297	6498	SO:0001819	synonymous_variant	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2109C>T	11.37:g.130078419C>T			Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F703	ENST00000278742.5	37	c.2109	CCDS8487.1	11																																																																																			ST14	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6		0.647	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	C			130078419	1	no_errors	ENST00000278742	ensembl	human	known	70_37	silent	SNP	1.000	T	T	130078419	C	T	130078419	2	4	185	1	0	0	0	0	0	0	0	1	15241	825	29	1		1	ST14	11	130078419	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4197829	130078419	4928097	963	35238										
SNX19	399979	genome.wustl.edu	37	chr11	130784826	130784826	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catcccacccaaatctccctCtacagcttcgtggccttctt	4	18	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr11:130784826C>G	ENST00000265909.4	-	1	1578	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	SNX19_ENST00000533214.1_Missense_Mutation_p.E337Q|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	337					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AAATCTCCCTCTACAGCTTCG	0.493																																																	0													70	72	71					11																	130784826		2201	4297	6498	SO:0001583	missense	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1009G>C	11.37:g.130784826C>G	ENSP00000265909:p.Glu337Gln		E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.E337Q	ENST00000265909.4	37	c.1009	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215151	0.58452	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.19806	2.12;2.12	5.48	5.48	0.80851	.	0.641392	0.17436	N	0.174283	T	0.29355	0.0731	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.982	P;P	0.58520	0.84;0.781	T	0.00679	-1.1613	10	0.36615	T	0.2	-22.1739	13.6817	0.62489	0.0:0.9262:0.0:0.0738	.	337;337	E9PKB9;Q92543	.;SNX19_HUMAN	Q	337	ENSP00000265909:E337Q;ENSP00000435390:E337Q	ENSP00000265909:E337Q	E	-	1	0	SNX19	130290036	0.172000	0.23043	0.998000	0.56505	0.961000	0.63080	0.611000	0.24268	2.598000	0.87819	0.644000	0.83932	GAG	SNX19	-	NULL		0.493	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	C	NM_014758		130784826	-1	no_errors	ENST00000265909	ensembl	human	known	70_37	missense	SNP	0.990	G	G	130784826	C	G	130784826	3	3	185	1	0	0	0	0	1	0	0	0	14920	922	32	1	2013	1	SNX19	11	130784826	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	706407	130784826	4221690	964	35239										
KDM5A	5927	genome.wustl.edu	37	chr12	419064	419064	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttttctttttctattagttCttttacttttttcctcctat	1	8	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:419064C>T	ENST00000399788.2	-	22	3645	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E1095K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1095					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTATTAGTTCTTTTACTTTT	0.428			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													83	79	80					12																	419064		1804	4075	5879	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3283G>A	12.37:g.419064C>T	ENSP00000382688:p.Glu1095Lys		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1095K	ENST00000399788.2	37	c.3283	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.573087	0.96553	.	.	ENSG00000073614	ENST00000261253;ENST00000399788;ENST00000382815;ENST00000544760	D;D;D	0.85773	-2.03;-1.84;-1.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91516	0.7321	M	0.62723	1.935	0.80722	D	1	P;D;D	0.67145	0.562;0.972;0.996	B;P;D	0.67900	0.413;0.776;0.954	D	0.91474	0.5199	10	0.87932	D	0	-22.8894	20.3081	0.98638	0.0:1.0:0.0:0.0	.	1095;1095;1095	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	K	714;1095;1095;714	ENSP00000382688:E1095K;ENSP00000372265:E1095K;ENSP00000440622:E714K	ENSP00000261253:E714K	E	-	1	0	KDM5A	289325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.619000	0.83057	2.795000	0.96236	0.655000	0.94253	GAA	KDM5A	-	NULL		0.428	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		419064	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	T	T	419064	C	T	419064	3	4	185	1	0	0	0	0	1	0	0	0	8153	922	32	1	1817	1	KDM5A	12	419064	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		419064	133432831	965	35240										
KDM5A	5927	genome.wustl.edu	37	chr12	419125	419125	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaatgtcggtccgggggctCagcacctacaaaaataaaac	9	12	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:419125C>T	ENST00000399788.2	-	22	3584	c.3222G>A	c.(3220-3222)ctG>ctA	p.L1074L	KDM5A_ENST00000382815.4_Silent_p.L1074L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1074					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCCGGGGGCTCAGCACCTACA	0.348			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													53	51	52					12																	419125		1793	4070	5863	SO:0001819	synonymous_variant	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3222G>A	12.37:g.419125C>T			A8MV76|Q4LE72|Q86XZ1	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L1074	ENST00000399788.2	37	c.3222	CCDS41736.1	12																																																																																			KDM5A	-	NULL		0.348	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		419125	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	silent	SNP	0.682	T	T	419125	C	T	419125	2	4	185	1	0	0	0	0	0	0	0	1	8153	813	29	1		1	KDM5A	12	419125	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	61	419125	133432770	966	35241										
WNK1	65125	genome.wustl.edu	37	chr12	977104	977104	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agatatttttcccaactattCatgaacgtccagtttctttt	4	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:977104C>G	ENST00000315939.6	+	9	2782				WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.H823D|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.H37D|WNK1_ENST00000537687.1_Missense_Mutation_p.H738D	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCAACTATTCATGAACGTCC	0.498																																					Colon(19;451 567 6672 12618 28860)												0													80	83	82					12																	977104		1925	4122	6047	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3327C>G	12.37:g.977104C>G			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H823D	ENST00000315939.6	37	c.2467	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733821	0.48939	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.42513	0.97;0.97	5.8	5.8	0.92144	.	.	.	.	.	T	0.63838	0.2545	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	T	0.58418	-0.7640	8	0.33940	T	0.23	.	20.0522	0.97631	0.0:1.0:0.0:0.0	.	823	F5H2M7	.	D	738;823	ENSP00000444465:H738D;ENSP00000433548:H823D	ENSP00000433548:H823D	H	+	1	0	WNK1	847365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CAT	WNK1	-	NULL		0.498	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		977104	1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	1.000	G	G	977104	C	G	977104	1	3	185	0	1	0	0	0	0	0	0	0	17408	826	29	1		1	WNK1	12	977104	Intron	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	557979	977104	132874791	967	35242										
WNK1	65125	genome.wustl.edu	37	chr12	994616	994616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctccctctctgcaccatcttCctcttcctctcctggagcag	5	19	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:994616C>T	ENST00000315939.6	+	19	5289	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F	WNK1_ENST00000535572.1_Missense_Mutation_p.S1302F|WNK1_ENST00000530271.2_Missense_Mutation_p.S2047F|WNK1_ENST00000340908.4_Missense_Mutation_p.S1142F|WNK1_ENST00000537687.1_Missense_Mutation_p.S1809F	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1549					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCACCATCTTCCTCTTCCTCT	0.468																																					Colon(19;451 567 6672 12618 28860)												0													378	335	350					12																	994616		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4646C>T	12.37:g.994616C>T	ENSP00000313059:p.Ser1549Phe		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S2047F	ENST00000315939.6	37	c.6140	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961379	0.53400	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	T	0.74351	0.3705	L	0.56769	1.78	0.43394	D	0.995518	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.73380	0.98;0.952;0.942	T	0.75569	-0.3272	10	0.87932	D	0	-11.1982	19.8046	0.96525	0.0:1.0:0.0:0.0	.	1302;1302;1549	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	F	1302;1549;1809;722;2047;1142	ENSP00000441972:S1302F;ENSP00000313059:S1549F;ENSP00000444465:S1809F;ENSP00000433548:S2047F;ENSP00000341292:S1142F	ENSP00000252477:S722F	S	+	2	0	WNK1	864877	0.613000	0.27009	0.904000	0.35570	0.631000	0.37964	3.845000	0.55880	2.748000	0.94277	0.655000	0.94253	TCC	WNK1	-	NULL		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	C	NM_018979		994616	1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	0.894	T	T	994616	C	T	994616	3	4	185	1	0	0	0	0	1	0	0	0	17408	855	30	1	6222	1	WNK1	12	994616	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	17512	994616	132857279	968	35243										
DCP1B	196513	genome.wustl.edu	37	chr12	2062277	2062277	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgagtgtcttctgggttcctCataggacagggagcgtacaa	13	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:2062277C>T	ENST00000280665.6	-	7	908	c.829G>A	c.(829-831)Gag>Aag	p.E277K	DCP1B_ENST00000397173.4_Missense_Mutation_p.E175K|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.E151K	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	277					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CTGGGTTCCTCATAGGACAGG	0.572																																																	0													59	63	62					12																	2062277		2203	4300	6503	SO:0001583	missense	196513			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.829G>A	12.37:g.2062277C>T	ENSP00000280665:p.Glu277Lys		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	pfam_DCP1	p.E277K	ENST00000280665.6	37	c.829	CCDS31727.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557267	0.86231	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23348	1.98;1.96;1.91	4.92	4.92	0.64577	.	0.159152	0.56097	D	0.000036	T	0.49795	0.1578	M	0.67953	2.075	0.45205	D	0.998219	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.922	T	0.44726	-0.9309	10	0.45353	T	0.12	-28.5884	17.2892	0.87150	0.0:1.0:0.0:0.0	.	175;277	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	K	277;175;151	ENSP00000280665:E277K;ENSP00000380358:E175K;ENSP00000444374:E151K	ENSP00000280665:E277K	E	-	1	0	DCP1B	1932538	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.452000	0.66638	2.556000	0.86216	0.650000	0.86243	GAG	DCP1B	-	NULL		0.572	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP1B	HGNC	protein_coding	OTTHUMT00000398244.1	C	NM_152640		2062277	-1	no_errors	ENST00000280665	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2062277	C	T	2062277	3	4	185	1	0	0	0	0	1	0	0	0	4304	835	29	1	1036	1	DCP1B	12	2062277	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1067661	2062277	131789618	969	35244										
SCNN1A	6337	genome.wustl.edu	37	chr12	6472857	6472857	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcggtccagctcctccagctCctctttaatttccgggtacc	8	16	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:6472857C>G	ENST00000228916.2	-	3	534	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	SCNN1A_ENST00000358945.3_Missense_Mutation_p.E146Q|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.E146Q|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E169Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E205Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	146					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCCTCCAGCTCCTCTTTAATT	0.632																																																	0													33	38	37					12																	6472857		2203	4300	6503	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.436G>C	12.37:g.6472857C>G	ENSP00000228916:p.Glu146Gln		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E146Q	ENST00000228916.2	37	c.436	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644582	0.29246	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.46	2.55	0.30701	.	0.501511	0.19283	N	0.118118	T	0.46658	0.1404	L	0.34521	1.04	0.21290	N	0.999738	B;B;B	0.25667	0.131;0.02;0.008	B;B;B	0.22152	0.038;0.026;0.012	T	0.26258	-1.0108	10	0.29301	T	0.29	-10.5794	9.0453	0.36343	0.0:0.6186:0.3013:0.0801	.	169;146;205	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	205;146;146;146;169	ENSP00000353292:E205Q;ENSP00000351825:E146Q;ENSP00000228916:E146Q;ENSP00000380166:E146Q;ENSP00000438739:E169Q	ENSP00000228916:E146Q	E	-	1	0	SCNN1A	6343118	0.126000	0.22350	0.319000	0.25293	0.921000	0.55340	0.376000	0.20535	0.222000	0.20900	0.561000	0.74099	GAG	SCNN1A	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.632	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	C			6472857	-1	no_errors	ENST00000358945	ensembl	human	known	70_37	missense	SNP	0.715	G	G	6472857	C	G	6472857	3	3	185	1	0	0	0	0	1	0	0	0	13957	864	30	1	1617	1	SCNN1A	12	6472857	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4410580	6472857	127379038	970	35245										
NCAPD2	9918	genome.wustl.edu	37	chr12	6638001	6638001	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgccctggccaagaacttCttcaatgagctctcccacaa	7	15	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:6638001C>G	ENST00000315579.5	+	26	4255	c.3456C>G	c.(3454-3456)ttC>ttG	p.F1152L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.F1107L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1152					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCAAGAACTTCTTCAATGAGC	0.567																																																	0													68	67	67					12																	6638001		2203	4300	6503	SO:0001583	missense	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3456C>G	12.37:g.6638001C>G	ENSP00000325017:p.Phe1152Leu		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.F1152L	ENST00000315579.5	37	c.3456	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743678	0.89663	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.47869	0.83;0.83	5.43	4.47	0.54385	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67624	-0.5623	10	0.87932	D	0	-24.6224	13.6049	0.62041	0.0:0.8762:0.0:0.1238	.	1107;1152	F5GZJ1;Q15021	.;CND1_HUMAN	L	1152;1107	ENSP00000325017:F1152L;ENSP00000444417:F1107L	ENSP00000325017:F1152L	F	+	3	2	NCAPD2	6508262	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.594000	0.36697	2.825000	0.97269	0.655000	0.94253	TTC	NCAPD2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1		0.567	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	C	NM_014865		6638001	1	no_errors	ENST00000315579	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6638001	C	G	6638001	3	3	185	1	0	0	0	0	1	0	0	0	10229	912	32	1	3554	1	NCAPD2	12	6638001	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	165144	6638001	127213894	971	35246										
CHD4	1108	genome.wustl.edu	37	chr12	6687053	6687053	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atggcatagcgtgggtcattCtggatgtcttgccaccgggc	14	10	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:6687053C>T	ENST00000357008.2	-	37	5422	c.5259G>A	c.(5257-5259)caG>caA	p.Q1753Q	CHD4_ENST00000309577.6_Silent_p.Q1781Q|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Silent_p.Q1778Q|CHD4_ENST00000544040.1_Silent_p.Q1746Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1753	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GTGGGTCATTCTGGATGTCTT	0.423																																					Colon(32;586 792 4568 16848 45314)												0													95	96	96					12																	6687053		2203	4300	6503	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5259G>A	12.37:g.6687053C>T			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q1781	ENST00000357008.2	37	c.5343	CCDS8552.1	12																																																																																			CHD4	-	pfam_CHD_C2		0.423	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6687053	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6687053	C	T	6687053	2	4	185	1	0	0	0	0	0	0	0	1	3332	912	32	1		1	CHD4	12	6687053	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	49052	6687053	127164842	972	35247										
CHD4	1108	genome.wustl.edu	37	chr12	6711619	6711619	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcttcttcttgagctttgGagtctctgtttctgacaaat	7	8	5	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:6711619G>C	ENST00000357008.2	-	3	308	c.145C>G	c.(145-147)Cca>Gca	p.P49A	CHD4_ENST00000309577.6_Missense_Mutation_p.P49A|CHD4_ENST00000544484.1_Missense_Mutation_p.P46A|CHD4_ENST00000544040.1_Missense_Mutation_p.P49A	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	49					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TTGAGCTTTGGAGTCTCTGTT	0.423																																					Colon(32;586 792 4568 16848 45314)												0													192	193	193					12																	6711619		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.145C>G	12.37:g.6711619G>C	ENSP00000349508:p.Pro49Ala		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P49A	ENST00000357008.2	37	c.145	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147550	0.77888	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942;ENST00000545584	D;D;D;D;T	0.89810	-2.57;-2.55;-2.53;-2.54;0.91	5.26	5.26	0.73747	.	0.071332	0.56097	D	0.000025	D	0.87180	0.6113	L	0.52573	1.65	0.53005	D	0.999961	B;B;B	0.28636	0.218;0.139;0.218	B;B;B	0.30782	0.12;0.056;0.12	D	0.83688	0.0175	10	0.29301	T	0.29	0.0329	19.2515	0.93926	0.0:0.0:1.0:0.0	.	49;49;49	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	A	46;49;49;49;30;49;49	ENSP00000440392:P46A;ENSP00000440542:P49A;ENSP00000312419:P49A;ENSP00000349508:P49A;ENSP00000437506:P49A	ENSP00000312419:P49A	P	-	1	0	CHD4	6581880	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.463000	0.90377	2.633000	0.89246	0.555000	0.69702	CCA	CHD4	-	NULL		0.423	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		G	NM_001273		6711619	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6711619	G	C	6711619	3	2	185	1	0	0	0	0	1	0	0	0	3332	1174	41	1	5745	1	CHD4	12	6711619	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	24566	6711619	127140276	973	35248										
ATN1	1822	genome.wustl.edu	37	chr12	7045670	7045670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctacccccactctttccctCccccaacaagcctctctgtc	3	22	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:7045670C>T	ENST00000356654.4	+	5	1477	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	ATN1_ENST00000396684.2_Missense_Mutation_p.P414S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	414					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCTTTCCCTCCCCCAACAAG	0.612																																																	0													88	74	79					12																	7045670		2203	4300	6503	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1240C>T	12.37:g.7045670C>T	ENSP00000349076:p.Pro414Ser		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.P414S	ENST00000356654.4	37	c.1240	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	c	13.62	2.292052	0.40594	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.53423	0.62;0.62;0.62	3.88	3.88	0.44766	.	0.000000	0.33732	U	0.004619	T	0.55226	0.1907	L	0.36672	1.1	0.45962	D	0.998785	D;D	0.58268	0.982;0.975	P;P	0.62491	0.903;0.84	T	0.53961	-0.8364	10	0.33141	T	0.24	.	16.2396	0.82401	0.0:1.0:0.0:0.0	.	414;414	Q86V38;P54259	.;ATN1_HUMAN	S	414	ENSP00000349076:P414S;ENSP00000379915:P414S;ENSP00000441744:P414S	ENSP00000349076:P414S	P	+	1	0	ATN1	6915931	0.024000	0.19004	0.971000	0.41717	0.287000	0.27160	1.988000	0.40697	1.883000	0.54544	0.586000	0.80456	CCC	ATN1	-	pfam_Atrophin-like		0.612	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	C	NM_001940		7045670	1	no_errors	ENST00000356654	ensembl	human	known	70_37	missense	SNP	0.929	T	T	7045670	C	T	7045670	3	4	185	1	0	0	0	0	1	0	0	0	1112	855	30	1	1254	1	ATN1	12	7045670	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	334051	7045670	126806225	974	35249										
ACSM4	341392	genome.wustl.edu	37	chr12	7475902	7475902	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggaaaggaatgctgccctatGatgtccaggtaggttgagaa	14	6	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:7475902G>C	ENST00000399422.4	+	8	1246	c.1198G>C	c.(1198-1200)Gat>Cat	p.D400H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	400					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						GCTGCCCTATGATGTCCAGGT	0.398																																																	0													52	50	51					12																	7475902		1875	4114	5989	SO:0001583	missense	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1198G>C	12.37:g.7475902G>C	ENSP00000382349:p.Asp400His		A8MTI6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D400H	ENST00000399422.4	37	c.1198	CCDS44825.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.38|16.38	3.108225|3.108225	0.56291|0.56291	.|.	.|.	ENSG00000215009|ENSG00000215009	ENST00000399422|ENST00000524777	T|.	0.42131|.	0.98|.	3.64|3.64	3.64|3.64	0.41730|0.41730	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.40064|.	U|.	0.001197|.	T|.	0.72795|.	0.3505|.	M|M	0.75150|0.75150	2.29|2.29	0.45883|0.45883	D|D	0.998734|0.998734	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|.	0.74515|.	-0.3640|.	10|.	0.41790|.	T|.	0.15|.	6.3125|6.3125	13.6094|13.6094	0.62068|0.62068	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	400|.	P0C7M7|.	ACSM4_HUMAN|.	H|S	400|77	ENSP00000382349:D400H|.	ENSP00000382349:D400H|.	D|X	+|+	1|2	0|2	ACSM4|ACSM4	7367169|7367169	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.878000|0.878000	0.50629|0.50629	4.200000|4.200000	0.58433|0.58433	1.976000|1.976000	0.57569|0.57569	0.557000|0.557000	0.71058|0.71058	GAT|TGA	ACSM4	-	pfam_AMP-dep_Synth/Lig		0.398	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	HGNC	protein_coding	OTTHUMT00000337866.2	G	NM_001080454		7475902	1	no_errors	ENST00000399422	ensembl	human	novel	70_37	missense	SNP	1.000	C	C	7475902	G	C	7475902	3	2	185	1	0	0	0	0	1	0	0	0	186	1290	45	1	1228	1	ACSM4	12	7475902	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	430232	7475902	126375993	975	35250										
MAGOHB	55110	genome.wustl.edu	37	chr12	10762468	10762468	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agggggaggccacaaagcatCatcttcttttgtaatttcac	9	9	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:10762468C>T	ENST00000320756.2	-	3	316	c.226G>A	c.(226-228)Gat>Aat	p.D76N	MAGOHB_ENST00000539554.1_Missense_Mutation_p.D30N|MAGOHB_ENST00000381881.2_Intron	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	76					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						CACAAAGCATCATCTTCTTTT	0.313																																																	0													118	120	119					12																	10762468		2203	4300	6503	SO:0001583	missense	55110				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.226G>A	12.37:g.10762468C>T	ENSP00000319240:p.Asp76Asn			Missense_Mutation	SNP	pfam_Mago_nashi,superfamily_Mago_nashi	p.D76N	ENST00000320756.2	37	c.226	CCDS8628.1	12	.	.	.	.	.	.	.	.	.	.	C	30	5.057916	0.93846	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	U	0.000000	D	0.86768	0.6012	H	0.96460	3.825	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.89657	0.3874	9	0.54805	T	0.06	.	15.7455	0.77936	0.0:1.0:0.0:0.0	.	76	Q96A72	MGN2_HUMAN	N	30;76	.	ENSP00000319240:D76N	D	-	1	0	MAGOHB	10653735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.836000	0.75349	2.844000	0.97970	0.591000	0.81541	GAT	MAGOHB	-	pfam_Mago_nashi,superfamily_Mago_nashi		0.313	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOHB	HGNC	protein_coding	OTTHUMT00000399616.1	C	NM_018048		10762468	-1	no_errors	ENST00000320756	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10762468	C	T	10762468	3	4	185	1	0	0	0	0	1	0	0	0	9218	826	29	1	232	1	MAGOHB	12	10762468	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3286566	10762468	123089427	976	35251										
PRB3	5544	genome.wustl.edu	37	chr12	11420626	11420626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtttcctccttgtgggggtGgtccttctggctttcccgga	14	11	1	0	rs113564509	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:11420626G>T	ENST00000279573.7	-	3	692	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.P165Q|PRB3_ENST00000381842.3_Missense_Mutation_p.P186Q			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	186	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).|P -> Q (in dbSNP:rs11054208). {ECO:0000269|PubMed:15489334}.		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTGTGGGGGTGGTCCTTCTGG	0.642													G|||	32	0.00638978	0.0015	0.0014	5008	,	,		12066	0.0248		0.001	False		,,,				2504	0.0031																0													110	137	129					12																	11420626		1861	4075	5936	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.557C>A	12.37:g.11420626G>T	ENSP00000279573:p.Pro186Gln		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.P186Q	ENST00000279573.7	37	c.557		12	.	.	.	.	.	.	.	.	.	.	.	0.463	-0.888202	0.02511	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.09445	2.98;2.98	1.2	1.2	0.21068	.	1.949310	0.05096	U	0.486104	T	0.06645	0.0170	.	.	.	0.09310	N	1	B	0.31077	0.307	B	0.24269	0.052	T	0.34502	-0.9826	9	0.33141	T	0.24	.	4.6618	0.12646	0.0:0.0:0.6292:0.3708	rs11054208	186	Q04118	PRB3_HUMAN	Q	186;165	ENSP00000371264:P186Q;ENSP00000442626:P165Q	ENSP00000279573:P186Q	P	-	2	0	PRB3	11311893	0.007000	0.16637	0.003000	0.11579	0.009000	0.06853	0.051000	0.14141	1.005000	0.39183	0.391000	0.25812	CCA	PRB3	-	NULL		0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	G	NM_006249		11420626	-1	no_errors	ENST00000381842	ensembl	human	known	70_37	missense	SNP	0.048	T	T	11420626	G	T	11420626	3	4	185	1	0	0	0	0	1	0	0	0	12471	1348	47	4	380	4	PRB3	12	11420626	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	658158	11420626	122431269	977	35252										
HIST4H4	121504	genome.wustl.edu	37	chr12	14923746	14923746	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agggtgcgaccctggcgtttCagcgcgtacaccacatccat	11	14	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:14923746C>T	ENST00000539745.1	-	1	319	c.273G>A	c.(271-273)ctG>ctA	p.L91L	RP11-174G6.5_ENST00000562691.2_RNA|HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	91					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CCTGGCGTTTCAGCGCGTACA	0.577											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94	81	85					12																	14923746		2203	4300	6503	SO:0001819	synonymous_variant	121504			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"Histones / Replication-dependent"	20510	protein-coding gene	gene with protein product		615069	"histone 4, H4"			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.273G>A	12.37:g.14923746C>T		698	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L91	ENST00000539745.1	37	c.273	CCDS8665.1	12																																																																																			HIST4H4	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4		0.577	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST4H4	HGNC	protein_coding	OTTHUMT00000400844.1	C	NM_175054		14923746	-1	no_errors	ENST00000358064	ensembl	human	known	70_37	silent	SNP	0.954	T	T	14923746	C	T	14923746	2	4	185	1	0	0	0	0	0	0	0	1	7205	813	29	1		1	HIST4H4	12	14923746	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3503120	14923746	118928149	978	35253										
LMO3	55885	genome.wustl.edu	37	chr12	16753787	16753787	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcttggtgtctggctggactGagagcatttgtatacctaaa	12	7	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:16753787G>C	ENST00000320122.6	-	2	530	c.8C>G	c.(7-9)tCa>tGa	p.S3*	LMO3_ENST00000540445.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000535535.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000540848.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000354662.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000261169.6_Nonsense_Mutation_p.S14*|LMO3_ENST00000534946.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000441439.2_Nonsense_Mutation_p.S3*|LMO3_ENST00000447609.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000537304.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000541846.1_Nonsense_Mutation_p.S3*|LMO3_ENST00000541295.1_Nonsense_Mutation_p.S21*	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TGGCTGGACTGAGAGCATTTG	0.413																																																	0													53	52	52					12																	16753787		2203	4300	6503	SO:0001587	stop_gained	55885			BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.8C>G	12.37:g.16753787G>C	ENSP00000312856:p.Ser3*		B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S21*	ENST00000320122.6	37	c.62	CCDS8678.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.791034	0.96945	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846;ENST00000539534;ENST00000546281;ENST00000537757;ENST00000546279;ENST00000538051;ENST00000545436;ENST00000540590;ENST00000538020	.	.	.	5.92	5.92	0.95590	.	0.132417	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.0911	0.72195	0.0:0.0:0.8583:0.1416	.	.	.	.	X	3;3;3;3;14;3;3;3;3;21;3;3;3;3;3;3;3;3;3;3;3	.	ENSP00000261169:S14X	S	-	2	0	LMO3	16645054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.494000	0.81503	2.810000	0.96702	0.585000	0.79938	TCA	LMO3	-	NULL		0.413	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LMO3	HGNC	protein_coding	OTTHUMT00000401279.1	G	NM_018640		16753787	-1	no_errors	ENST00000541295	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	16753787	G	C	16753787	4	2	185	1	0	0	0	0	0	1	0	0	8874	1294	45	1	441	1	LMO3	12	16753787	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1830041	16753787	117098108	979	35254										
PLEKHA5	54477	genome.wustl.edu	37	chr12	19475477	19475477	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcttgagcaagctttgctatCagccagccaagagatagaaa	10	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:19475477C>T	ENST00000299275.6	+	15	2021	c.2015C>T	c.(2014-2016)tCa>tTa	p.S672L	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.S603L|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.S730L|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.S672L|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.S775L|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.S730L|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.S591L|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.S430L|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.S672L	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	672					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GCTTTGCTATCAGCCAGCCAA	0.373																																					Pancreas(196;329 2193 11246 14234 19524)												0													81	78	79					12																	19475477		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2015C>T	12.37:g.19475477C>T	ENSP00000299275:p.Ser672Leu		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.S672L	ENST00000299275.6	37	c.2015	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320033	0.81469	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;2.55;-1.44;-1.44;-1.44;2.55;-1.44;-1.44;-1.44	4.76	4.76	0.60689	.	0.067941	0.64402	D	0.000008	D	0.85177	0.5637	L	0.43923	1.385	0.44762	D	0.997769	P;D;D;D;D;D;D	0.89917	0.664;1.0;1.0;0.997;0.997;0.992;1.0	P;D;D;P;P;P;D	0.79108	0.472;0.992;0.974;0.882;0.882;0.904;0.988	T	0.83058	-0.0149	10	0.30078	T	0.28	-13.62	16.1322	0.81449	0.0:1.0:0.0:0.0	.	672;591;603;775;775;672;730	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	L	672;730;672;776;775;672;430;730;603;591;564;9	ENSP00000325155:S672L;ENSP00000347560:S730L;ENSP00000352104:S672L;ENSP00000404296:S775L;ENSP00000299275:S672L;ENSP00000440611:S430L;ENSP00000439673:S730L;ENSP00000400411:S603L;ENSP00000439837:S591L;ENSP00000440371:S564L;ENSP00000443553:S9L	ENSP00000299275:S672L	S	+	2	0	PLEKHA5	19366744	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	6.785000	0.75089	2.462000	0.83206	0.557000	0.71058	TCA	PLEKHA5	-	NULL		0.373	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	C	NM_019012		19475477	1	no_errors	ENST00000317589	ensembl	human	known	70_37	missense	SNP	1.000	T	T	19475477	C	T	19475477	3	4	185	1	0	0	0	0	1	0	0	0	12083	838	29	1	2198	1	PLEKHA5	12	19475477	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2721690	19475477	114376418	980	35255										
PLEKHA5	54477	genome.wustl.edu	37	chr12	19522680	19522680	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catcgccagttccatccactCagccgcagctcacagaagga	8	16	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:19522680C>G	ENST00000299275.6	+	25	3316	c.3310C>G	c.(3310-3312)Cag>Gag	p.Q1104E	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Q1093E|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Q1162E|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Q1048E|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Q1270E|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Q1162E|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Q1086E|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Q862E|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Q1167E	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1104					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCATCCACTCAGCCGCAGCT	0.408																																					Pancreas(196;329 2193 11246 14234 19524)												0													136	121	126					12																	19522680		2203	4300	6503	SO:0001583	missense	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.3310C>G	12.37:g.19522680C>G	ENSP00000299275:p.Gln1104Glu		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.Q1167E	ENST00000299275.6	37	c.3499	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845239	0.51164	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000538972	T;T;T;T;T;T;T;T;T;T	0.30714	2.95;2.95;2.94;2.94;2.95;2.54;2.95;2.94;2.95;1.52	5.13	5.13	0.70059	.	0.271834	0.30020	N	0.010616	T	0.25791	0.0628	N	0.19112	0.55	0.21802	N	0.999535	B;B;P;B;B	0.36837	0.072;0.043;0.571;0.13;0.205	B;B;B;B;B	0.41510	0.099;0.046;0.359;0.066;0.14	T	0.14448	-1.0472	10	0.28530	T	0.3	-7.6273	16.2491	0.82473	0.0:1.0:0.0:0.0	.	1086;1093;1048;1104;1162	F5H0I0;E7EME8;Q9HAU0-5;Q9HAU0;Q9HAU0-2	.;.;.;PKHA5_HUMAN;.	E	1167;1162;1048;1270;1104;862;1162;1093;1086;385	ENSP00000325155:Q1167E;ENSP00000347560:Q1162E;ENSP00000352104:Q1048E;ENSP00000404296:Q1270E;ENSP00000299275:Q1104E;ENSP00000440611:Q862E;ENSP00000439673:Q1162E;ENSP00000400411:Q1093E;ENSP00000439837:Q1086E;ENSP00000443553:Q385E	ENSP00000299275:Q1104E	Q	+	1	0	PLEKHA5	19413947	0.992000	0.36948	0.933000	0.37362	0.960000	0.62799	2.991000	0.49409	2.826000	0.97356	0.655000	0.94253	CAG	PLEKHA5	-	NULL		0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	C	NM_019012		19522680	1	no_errors	ENST00000317589	ensembl	human	known	70_37	missense	SNP	0.984	G	G	19522680	C	G	19522680	3	3	185	1	0	0	0	0	1	0	0	0	12083	827	29	1	3726	1	PLEKHA5	12	19522680	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	47203	19522680	114329215	981	35256										
PDE3A	5139	genome.wustl.edu	37	chr12	20523043	20523043	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagcatttggggtcccagctGattgctgggaccaaggaaga	15	8	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																																	1	Substitution - coding silent(1)	urinary_tract(1)											26	32	30					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.L275	ENST00000359062.3	37	c.825	CCDS31754.1	12																																																																																			PDE3A	-	NULL		0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	G			20523043	1	no_errors	ENST00000359062	ensembl	human	known	70_37	silent	SNP	0.011	A	A	20523043	G	A	20523043	2	1	185	1	0	0	0	0	0	0	0	1	11661	1277	45	1		1	PDE3A	12	20523043	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1000363	20523043	113328852	982	35257										
RECQL	5965	genome.wustl.edu	37	chr12	21629873	21629873	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctttgtatctcccattaatGagctttacaatatcctcaat	3	11	2	1	rs138413466		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:21629873G>C	ENST00000444129.2	-	8	1389	c.921C>G	c.(919-921)ctC>ctG	p.L307L	RECQL_ENST00000421138.2_Silent_p.L307L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	307	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCCATTAATGAGCTTTACAA	0.318								Other identified genes with known or suspected DNA repair function																																									0													108	101	103					12																	21629873		2202	4299	6501	SO:0001819	synonymous_variant	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.921C>G	12.37:g.21629873G>C			A8K6G2	Silent	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.L307	ENST00000444129.2	37	c.921	CCDS31756.1	12																																																																																			RECQL	-	pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ		0.318	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	G	NM_002907		21629873	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	silent	SNP	1.000	C	C	21629873	G	C	21629873	2	2	185	1	0	0	0	0	0	0	0	1	13231	1277	45	1		1	RECQL	12	21629873	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1106830	21629873	112222022	983	35258										
BCAT1	586	genome.wustl.edu	37	chr12	24995103	24995103	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccatagagccacaggacctGctgacacccattatctactg	7	14	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:24995103G>A	ENST00000261192.7	-	7	1256	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	BCAT1_ENST00000539282.1_Nonsense_Mutation_p.Q256*|BCAT1_ENST00000538118.1_Nonsense_Mutation_p.Q243*|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Nonsense_Mutation_p.Q183*|BCAT1_ENST00000539780.1_Nonsense_Mutation_p.Q207*	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	244					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CACAGGACCTGCTGACACCCA	0.413																																																	0													87	84	85					12																	24995103		1928	4148	6076	SO:0001587	stop_gained	586				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.730C>T	12.37:g.24995103G>A	ENSP00000261192:p.Gln244*		B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Nonsense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.Q244*	ENST00000261192.7	37	c.730	CCDS44845.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.963360	0.97967	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.2795	19.0868	0.93206	0.0:0.0:1.0:0.0	.	.	.	.	X	244;243;183;256;207	.	ENSP00000261192:Q244X	Q	-	1	0	BCAT1	24886370	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	9.458000	0.97634	2.506000	0.84524	0.563000	0.77884	CAG	BCAT1	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII		0.413	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BCAT1	HGNC	protein_coding	OTTHUMT00000402080.1	G	NM_005504		24995103	-1	no_errors	ENST00000261192	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	24995103	G	A	24995103	4	1	185	1	0	0	0	0	0	1	0	0	1355	1328	46	4	450	4	BCAT1	12	24995103	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3365230	24995103	108856792	984	35259										
CCDC91	55297	genome.wustl.edu	37	chr12	28544303	28544303	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacagtacatttctgcaattGagaaacaggcacacaagtgt	8	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:28544303G>C	ENST00000545336.1	+	11	1140	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000539107.1_Intron|CCDC91_ENST00000381259.1_Missense_Mutation_p.E241Q|CCDC91_ENST00000306172.5_Missense_Mutation_p.E211Q|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	241	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTCTGCAATTGAGAAACAGGC	0.388																																																	0													90	89	89					12																	28544303		2203	4300	6503	SO:0001583	missense	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.721G>C	12.37:g.28544303G>C	ENSP00000438040:p.Glu241Gln		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	NULL	p.E241Q	ENST00000545336.1	37	c.721	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600676	0.66332	.	.	ENSG00000123106	ENST00000540794;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000306172	T;T;T;T;T;T	0.54279	0.58;1.33;1.35;1.33;1.35;1.34	5.16	5.16	0.70880	.	0.000000	0.52532	D	0.000071	T	0.60483	0.2272	N	0.24115	0.695	0.35300	D	0.782922	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.70702	-0.4799	10	0.66056	D	0.02	.	16.1755	0.81847	0.0:0.0:1.0:0.0	.	241;211	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	Q	37;241;241;241;241;211	ENSP00000441714:E37Q;ENSP00000445660:E241Q;ENSP00000438040:E241Q;ENSP00000442544:E241Q;ENSP00000370658:E241Q;ENSP00000305075:E211Q	ENSP00000305075:E211Q	E	+	1	0	CCDC91	28435570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.181000	0.71988	2.569000	0.86673	0.650000	0.86243	GAG	CCDC91	-	NULL		0.388	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	G	NM_018318		28544303	1	no_errors	ENST00000381259	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28544303	G	C	28544303	3	2	185	1	0	0	0	0	1	0	0	0	2875	1291	45	1	747	1	CCDC91	12	28544303	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3549200	28544303	105307592	985	35260										
AMN1	196394	genome.wustl.edu	37	chr12	31842023	31842023	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcttcgacagccccatcagtCagatttacacaatgtcccat	6	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:31842023C>G	ENST00000281471.6	-	6	786	c.621G>C	c.(619-621)ctG>ctC	p.L207L	AMN1_ENST00000537562.1_Silent_p.L189L|AMN1_ENST00000542781.1_Silent_p.L7L|AMN1_ENST00000536761.1_Silent_p.L189L|AMN1_ENST00000541931.1_Silent_p.L7L	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	207										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCCCATCAGTCAGATTTACAC	0.353																																																	0													88	80	82					12																	31842023		1894	4113	6007	SO:0001819	synonymous_variant	196394				CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.621G>C	12.37:g.31842023C>G			B7Z7J3|Q6NVU4|Q86X98	Silent	SNP	smart_Leu-rich_rpt_Cys-con_subtyp	p.L207	ENST00000281471.6	37	c.621	CCDS44858.1	12																																																																																			AMN1	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.353	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMN1	HGNC	protein_coding	OTTHUMT00000402807.2	C	NR_004854		31842023	-1	no_errors	ENST00000281471	ensembl	human	known	70_37	silent	SNP	1.000	G	G	31842023	C	G	31842023	2	3	185	1	0	0	0	0	0	0	0	1	581	813	29	1		1	AMN1	12	31842023	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3297720	31842023	102009872	986	35261										
YARS2	51067	genome.wustl.edu	37	chr12	32908137	32908137	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taatagaagtcataggcctgGagcacctggtaaaagaactc	10	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:32908137G>C	ENST00000324868.8	-	1	699	c.672C>G	c.(670-672)ctC>ctG	p.L224L		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	224					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CATAGGCCTGGAGCACCTGGT	0.572											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86	93	91					12																	32908137		2203	4300	6503	SO:0001819	synonymous_variant	51067			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.672C>G	12.37:g.32908137G>C		836	D3DUW8|Q9H817	Silent	SNP	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.L224	ENST00000324868.8	37	c.672	CCDS31770.1	12																																																																																			YARS2	-	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase		0.572	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	HGNC	protein_coding	OTTHUMT00000404153.1	G	NM_015936		32908137	-1	no_errors	ENST00000324868	ensembl	human	known	70_37	silent	SNP	0.995	C	C	32908137	G	C	32908137	2	2	185	1	0	0	0	0	0	0	0	1	17499	1161	41	1		1	YARS2	12	32908137	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1066114	32908137	100943758	987	35262										
NELL2	4753	genome.wustl.edu	37	chr12	44915918	44915918	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaagatcaactgtgggattCtcacagtcacagaccatccg	8	11	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:44915918C>T	ENST00000429094.2	-	18	2544	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E	NELL2_ENST00000551601.1_Silent_p.E632E|NELL2_ENST00000437801.2_Silent_p.E730E|NELL2_ENST00000333837.4_Silent_p.E703E|NELL2_ENST00000395487.2_Silent_p.E679E|NELL2_ENST00000549027.1_Silent_p.E679E|NELL2_ENST00000452445.2_Silent_p.E680E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	680	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTGTGGGATTCTCACAGTCAC	0.423																																																	0													119	108	112					12																	44915918		2203	4300	6503	SO:0001819	synonymous_variant	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2040G>A	12.37:g.44915918C>T			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.E730	ENST00000429094.2	37	c.2190	CCDS8746.1	12																																																																																			NELL2	-	smart_VWF_C,pfscan_VWF_C		0.423	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	C	NM_006159		44915918	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44915918	C	T	44915918	2	4	185	1	0	0	0	0	0	0	0	1	10358	912	32	1		1	NELL2	12	44915918	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	12007781	44915918	88935977	988	35263										
FAM113B	91523	genome.wustl.edu	37	chr12	47629733	47629733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctgtccccacccttaccttCccccacataccgccccctgc	3	24	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:47629733C>T	ENST00000546455.1	+	4	1618	c.887C>T	c.(886-888)tCc>tTc	p.S296F	PCED1B_ENST00000432328.1_Missense_Mutation_p.S296F|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	296	Pro-rich.						hydrolase activity (GO:0016787)	p.S296Y(1)									cccttaccttcccccacatac	0.637																																																	1	Substitution - Missense(1)	kidney(1)											25	28	27					12																	47629733		2203	4299	6502	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.887C>T	12.37:g.47629733C>T	ENSP00000446688:p.Ser296Phe		Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.S296F	ENST00000546455.1	37	c.887	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607882	0.28623	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T	0.31510	1.49;1.49	4.38	-0.977	0.10282	.	5.542930	0.00397	N	0.000050	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12344	-1.0551	10	0.26408	T	0.33	.	4.1104	0.10057	0.0:0.3484:0.3361:0.3156	.	296	Q96HM7	F113B_HUMAN	F	296;296;176;176	ENSP00000446688:S296F;ENSP00000396040:S296F	ENSP00000328560:S176F	S	+	2	0	FAM113B	45916000	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.305000	0.08188	-0.174000	0.10743	0.655000	0.94253	TCC	PCED1B	-	NULL		0.637	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	C	NM_138371		47629733	1	no_errors	ENST00000432328	ensembl	human	known	70_37	missense	SNP	0.000	T	T	47629733	C	T	47629733	3	4	185	1	0	0	0	0	1	0	0	0	5417	855	30	1	889	1	FAM113B	12	47629733	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2713815	47629733	86222162	989	35264										
COL2A1	1280	genome.wustl.edu	37	chr12	48369281	48369281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcggcccgcatgtactgcagGgggtcggggcccttctctct	14	14	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:48369281G>A	ENST00000380518.3	-	51	3869	c.3705C>T	c.(3703-3705)ccC>ccT	p.P1235P	COL2A1_ENST00000337299.6_Silent_p.P1166P|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1235	Nonhelical region (C-terminal).				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGTACTGCAGGGGGTCGGGGC	0.642																																																	0													51	49	49					12																	48369281		2203	4300	6503	SO:0001819	synonymous_variant	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3705C>T	12.37:g.48369281G>A			A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P1235	ENST00000380518.3	37	c.3705	CCDS41778.1	12																																																																																			COL2A1	-	NULL		0.642	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	G	NM_001844		48369281	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	silent	SNP	0.795	A	A	48369281	G	A	48369281	2	1	185	1	0	0	0	0	0	0	0	1	3692	1219	43	4		4	COL2A1	12	48369281	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	739548	48369281	85482614	990	35265										
DDX23	9416	genome.wustl.edu	37	chr12	49233831	49233831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accatgttcatcctcttcatCcttcttagagtctctgtcct	4	14	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49233831C>T	ENST00000308025.3	-	4	458	c.379G>A	c.(379-381)Gat>Aat	p.D127N	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	127					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCCTCTTCATCCTTCTTAGAG	0.413																																																	0													232	224	227					12																	49233831		2203	4300	6503	SO:0001583	missense	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.379G>A	12.37:g.49233831C>T	ENSP00000310723:p.Asp127Asn		B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D127N	ENST00000308025.3	37	c.379	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471223	0.84533	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.21734	1.99	5.87	5.87	0.94306	.	0.364463	0.30510	N	0.009478	T	0.17959	0.0431	N	0.24115	0.695	0.45452	D	0.998427	B	0.26400	0.148	B	0.22152	0.038	T	0.02736	-1.1117	10	0.44086	T	0.13	-10.2937	19.0502	0.93039	0.0:1.0:0.0:0.0	.	127	Q9BUQ8	DDX23_HUMAN	N	127	ENSP00000310723:D127N	ENSP00000310723:D127N	D	-	1	0	DDX23	47520098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.233000	0.72320	2.798000	0.96311	0.650000	0.86243	GAT	DDX23	-	NULL		0.413	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	C	NM_004818		49233831	-1	no_errors	ENST00000308025	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49233831	C	T	49233831	3	4	185	1	0	0	0	0	1	0	0	0	4355	855	30	1	2139	1	DDX23	12	49233831	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	864550	49233831	84618064	991	35266										
MLL2	8085	genome.wustl.edu	37	chr12	49421925	49421925	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accatcacgccattcaggttCtgccagggccagggaaggga	13	12	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49421925C>T	ENST00000301067.7	-	46	14382		c.e46-1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CATTCAGGTTCTGCCAGGGCC	0.592																																																	0													38	41	40					12																	49421925		2148	4248	6396	SO:0001630	splice_region_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14383-1G>A	12.37:g.49421925C>T			O14687	Splice_Site	SNP	-	e46-1	ENST00000301067.7	37	c.14383-1	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420057	0.62622	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.948	0.89045	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47708192	1.000000	0.71417	0.998000	0.56505	0.550000	0.35303	7.333000	0.79214	2.627000	0.88993	0.561000	0.74099	.	MLL2	-	-		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C		Intron	49421925	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	49421925	C	T	49421925	5	4	185	1	0	0	0	0	0	0	1	0	9644	927	32	1	2267	1	MLL2	12	49421925	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	188094	49421925	84429970	992	35267										
TUBA1A	7846	genome.wustl.edu	37	chr12	49578810	49578810	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actttagtattcctctccttCttcctcaccctctccttcaa	1	17	5	0	rs1065730		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49578810C>T	ENST00000295766.5	-	4	1818	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	TUBA1A_ENST00000550767.1_Missense_Mutation_p.E412K|TUBA1A_ENST00000301071.7_Missense_Mutation_p.E447K	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	447			E -> K (in dbSNP:rs1065730).		'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TCCTCTCCTTCTTCCTCACCC	0.443																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)												0													177	178	178					12																	49578810		2203	4300	6503	SO:0001583	missense	7846			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1339G>A	12.37:g.49578810C>T	ENSP00000439020:p.Glu447Lys		A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.E447K	ENST00000295766.5	37	c.1339	CCDS58227.1	12	.	.	.	.	.	.	.	.	.	.	c	13.98	2.397907	0.42512	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	T;T;T	0.79940	-1.21;-1.21;-1.32	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	D	0.85379	0.5683	M	0.85945	2.785	0.80722	D	1	P	0.34587	0.458	B	0.39152	0.292	D	0.86744	0.1956	10	0.72032	D	0.01	.	18.2109	0.89869	0.0:1.0:0.0:0.0	rs1065730;rs3206700;rs52812432	447	Q71U36	TBA1A_HUMAN	K	447;178;294;447;412	ENSP00000301071:E447K;ENSP00000439020:E447K;ENSP00000446637:E412K	ENSP00000439020:E447K	E	-	1	0	TUBA1A	47865077	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.503000	0.60407	2.581000	0.87130	0.655000	0.94253	GAA	TUBA1A	-	NULL		0.443	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	TUBA1A	HGNC	protein_coding	OTTHUMT00000404547.2	C	NM_006009		49578810	-1	no_errors	ENST00000301071	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49578810	C	T	49578810	3	4	185	1	0	0	0	0	1	0	0	0	16774	922	32	1	20	1	TUBA1A	12	49578810	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	156885	49578810	84273085	993	35268										
TUBA1C	84790	genome.wustl.edu	37	chr12	49666530	49666530	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaacagcttactgtagcagaGatcaccaatgcttgctttga	9	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:49666530G>A	ENST00000301072.6	+	4	1145	c.870G>A	c.(868-870)gaG>gaA	p.E290E	TUBA1C_ENST00000541364.1_Silent_p.E360E|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	290					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CTGTAGCAGAGATCACCAATG	0.542																																																	0													47	86	73					12																	49666530		2203	4300	6503	SO:0001819	synonymous_variant	84790			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"Tubulins"	20768	protein-coding gene	gene with protein product			"tubulin, alpha 6"	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.870G>A	12.37:g.49666530G>A				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E290	ENST00000301072.6	37	c.870	CCDS8782.1	12																																																																																			TUBA1C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom		0.542	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	G	NM_032704		49666530	1	no_errors	ENST00000301072	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49666530	G	A	49666530	2	1	185	1	0	0	0	0	0	0	0	1	16776	933	33	1		1	TUBA1C	12	49666530	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	87720	49666530	84185365	994	35269										
DIP2B	57609	genome.wustl.edu	37	chr12	51128868	51128868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctgcagggttcgtctcgtGgaacgtggcgcccctcagag	14	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:51128868G>A	ENST00000301180.5	+	34	4090	c.4056G>A	c.(4054-4056)gtG>gtA	p.V1352V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1352						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCGTCTCGTGGAACGTGGCG	0.512											OREG0021816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													154	143	147					12																	51128868		2203	4300	6503	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4056G>A	12.37:g.51128868G>A		975	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1352	ENST00000301180.5	37	c.4056	CCDS31799.1	12																																																																																			DIP2B	-	pfam_AMP-dep_Synth/Lig		0.512	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	G	NM_173602		51128868	1	no_errors	ENST00000301180	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51128868	G	A	51128868	2	1	185	1	0	0	0	0	0	0	0	1	4538	1335	47	4		4	DIP2B	12	51128868	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1462338	51128868	82723027	995	35270										
SLC11A2	4891	genome.wustl.edu	37	chr12	51382141	51382141	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacgggtggcttcttctgtCagcaggcctttagagatgct	12	11	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:51382141C>T	ENST00000262051.7	-	16	1717				SLC11A2_ENST00000262052.5_Silent_p.L551L|SLC11A2_ENST00000547198.1_Intron|SLC11A2_ENST00000541174.2_Silent_p.L551L|SLC11A2_ENST00000547688.1_Silent_p.L580L|SLC11A2_ENST00000394904.3_Silent_p.L580L|SLC11A2_ENST00000546743.1_Silent_p.L472L|SLC11A2_ENST00000545993.2_Silent_p.L547L	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTTCTTCTGTCAGCAGGCCTT	0.473																																																	0													155	127	136					12																	51382141		2203	4300	6503	SO:0001627	intron_variant	4891			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"Solute carriers"	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1629+23G>A	12.37:g.51382141C>T			B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp	p.L580	ENST00000262051.7	37	c.1740	CCDS53792.1	12																																																																																			SLC11A2	-	NULL		0.473	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC11A2	HGNC	protein_coding	OTTHUMT00000404383.1	C			51382141	-1	no_errors	ENST00000394904	ensembl	human	known	70_37	silent	SNP	0.978	T	T	51382141	C	T	51382141	1	4	185	0	1	0	0	0	0	0	0	0	14411	813	29	1		1	SLC11A2	12	51382141	Intron	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	253273	51382141	82469754	996	35271										
SMAGP	57228	genome.wustl.edu	37	chr12	51639742	51639742	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcattagatgaaatattcctCtttctcgctgcccttggcca	6	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:51639742C>G	ENST00000603798.1	-	4	949	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	SMAGP_ENST00000603864.1_Missense_Mutation_p.E93Q|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000604900.1_Intron|SMAGP_ENST00000605627.1_Missense_Mutation_p.E79Q|SMAGP_ENST00000398453.3_Missense_Mutation_p.E93Q	NM_001031628.1	NP_001026798.1	Q0VAQ4	SMAGP_HUMAN	small cell adhesion glycoprotein	93						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)											AAATATTCCTCTTTCTCGCTG	0.493																																																	0													118	115	116					12																	51639742		1986	4164	6150	SO:0001583	missense	57228				CCDS44889.1	12q13.13	2010-02-17			ENSG00000170545	ENSG00000170545			26918	protein-coding gene	gene with protein product	"small trans-membrane and glycosylated protein"					15021913	Standard	NM_001031628		Approved	MGC149453, MGC149454, hSMAGP	uc001rye.1	Q0VAQ4		ENST00000603798.1:c.277G>C	12.37:g.51639742C>G	ENSP00000475068:p.Glu93Gln		A6NIL5	Missense_Mutation	SNP	NULL	p.E93Q	ENST00000603798.1	37	c.277	CCDS44889.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048924	0.75846	.	.	ENSG00000170545	ENST00000380103;ENST00000398453	T	0.78003	-1.14	5.28	5.28	0.74379	.	0.143577	0.29066	U	0.013241	D	0.85362	0.5679	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	D	0.86384	0.1731	9	0.72032	D	0.01	-15.6467	11.553	0.50731	0.0:0.9168:0.0:0.0832	.	93	Q0VAQ4	SMAGP_HUMAN	Q	93	ENSP00000381471:E93Q	ENSP00000369446:E93Q	E	-	1	0	SMAGP	49926009	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.198000	0.58419	2.644000	0.89710	0.655000	0.94253	GAG	SMAGP	-	NULL		0.493	SMAGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAGP	HGNC	protein_coding	OTTHUMT00000469789.1	C	NM_020467		51639742	-1	no_errors	ENST00000380103	ensembl	human	known	70_37	missense	SNP	1.000	G	G	51639742	C	G	51639742	3	3	185	1	0	0	0	0	1	0	0	0	14795	922	32	1	20	1	SMAGP	12	51639742	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	257601	51639742	82212153	997	35272										
KRT75	9119	genome.wustl.edu	37	chr12	52827903	52827903	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttggcaccccccaggttgtaGaggctgcggcttccaaagct	12	13	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:52827903G>C	ENST00000252245.5	-	1	406	c.186C>G	c.(184-186)ctC>ctG	p.L62L		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	62	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCAGGTTGTAGAGGCTGCGGC	0.637																																																	0													51	53	52					12																	52827903		2203	4300	6503	SO:0001819	synonymous_variant	9119			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.186C>G	12.37:g.52827903G>C			B4DQU4|Q9NSA9	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.L62	ENST00000252245.5	37	c.186	CCDS8827.1	12																																																																																			KRT75	-	NULL		0.637	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	HGNC	protein_coding	OTTHUMT00000404968.1	G	NM_004693		52827903	-1	no_errors	ENST00000252245	ensembl	human	known	70_37	silent	SNP	1.000	C	C	52827903	G	C	52827903	2	2	185	1	0	0	0	0	0	0	0	1	8508	929	33	1		1	KRT75	12	52827903	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1188161	52827903	81023992	998	35273										
PPP1R1A	5502	genome.wustl.edu	37	chr12	54975847	54975847	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcctgggtttctgtgctctCagcggccccctcaggttcct	10	16	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:54975847C>T	ENST00000257905.8	-	5	486	c.316G>A	c.(316-318)Gag>Aag	p.E106K	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	106					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						TCTGTGCTCTCAGCGGCCCCC	0.582																																																	0													61	63	63					12																	54975847		1914	4128	6042	SO:0001583	missense	5502			U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.316G>A	12.37:g.54975847C>T	ENSP00000257905:p.Glu106Lys		Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.E106K	ENST00000257905.8	37	c.316	CCDS44912.1	12	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461963	0.26248	.	.	ENSG00000135447	ENST00000257905	T	0.32988	1.43	5.28	3.46	0.39613	.	0.790050	0.11503	N	0.557521	T	0.30510	0.0767	L	0.58810	1.83	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.27739	-1.0065	10	0.66056	D	0.02	.	7.9798	0.30177	0.0:0.8128:0.0:0.1872	.	106	Q13522	PPR1A_HUMAN	K	106	ENSP00000257905:E106K	ENSP00000257905:E106K	E	-	1	0	PPP1R1A	53262114	0.004000	0.15560	0.295000	0.24960	0.144000	0.21451	1.379000	0.34340	0.732000	0.32470	0.655000	0.94253	GAG	PPP1R1A	-	pfam_PPI_1DARPP-32		0.582	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406604.1	C	NM_006741		54975847	-1	no_errors	ENST00000257905	ensembl	human	known	70_37	missense	SNP	0.111	T	T	54975847	C	T	54975847	3	4	185	1	0	0	0	0	1	0	0	0	12394	835	29	1	211	1	PPP1R1A	12	54975847	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2147944	54975847	78876048	999	35274										
OR10A7	121364	genome.wustl.edu	37	chr12	55615615	55615615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaatcaaaccagtcccctgaGagcaagaagctagtgtcatt	8	10	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:55615615G>C	ENST00000326258.1	+	1	807	c.807G>C	c.(805-807)gaG>gaC	p.E269D		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AGTCCCCTGAGAGCAAGAAGC	0.498																																																	0													85	77	79					12																	55615615		2203	4300	6503	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.807G>C	12.37:g.55615615G>C	ENSP00000326718:p.Glu269Asp		Q6IFD5|Q96R19	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E269D	ENST00000326258.1	37	c.807	CCDS31815.1	12	.	.	.	.	.	.	.	.	.	.	g	1.940	-0.443894	0.04604	.	.	ENSG00000179919	ENST00000326258	T	0.00076	8.76	4.08	-4.49	0.03504	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000853	T	0.00073	0.0002	N	0.12611	0.24	0.09310	N	1	B	0.14438	0.01	B	0.17098	0.017	T	0.36089	-0.9762	10	0.11794	T	0.64	.	2.9377	0.05819	0.5235:0.1005:0.1724:0.2035	.	269	Q8NGE5	O10A7_HUMAN	D	269	ENSP00000326718:E269D	ENSP00000326718:E269D	E	+	3	2	OR10A7	53901882	0.000000	0.05858	0.006000	0.13384	0.427000	0.31564	-1.523000	0.02235	-1.159000	0.02807	-1.734000	0.00692	GAG	OR10A7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A7	HGNC	protein_coding	OTTHUMT00000406308.1	G			55615615	1	no_errors	ENST00000326258	ensembl	human	known	70_37	missense	SNP	0.000	C	C	55615615	G	C	55615615	3	2	185	1	0	0	0	0	1	0	0	0	10919	933	33	1	809	1	OR10A7	12	55615615	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	639768	55615615	78236280	1000	35275										
OR6C74	254783	genome.wustl.edu	37	chr12	55641759	55641759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctgaaaataccttcttctCaacagagaaaaaaagcattt	4	8	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:55641759C>G	ENST00000343870.4	+	1	778	c.688C>G	c.(688-690)Caa>Gaa	p.Q230E		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ACCTTCTTCTCAACAGAGAAA	0.403																																																	0													79	77	77					12																	55641759		2203	4300	6503	SO:0001583	missense	254783				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.688C>G	12.37:g.55641759C>G	ENSP00000342836:p.Gln230Glu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q230E	ENST00000343870.4	37	c.688	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	c	11.19	1.565980	0.27915	.	.	ENSG00000197706	ENST00000343870	T	0.00091	8.74	5.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.131073	0.34750	N	0.003710	T	0.00109	0.0003	N	0.11651	0.15	0.09310	N	1	B	0.21147	0.052	B	0.28638	0.092	T	0.14254	-1.0479	10	0.39692	T	0.17	.	9.8661	0.41145	0.1429:0.5882:0.2689:0.0	.	230	A6NCV1	O6C74_HUMAN	E	230	ENSP00000342836:Q230E	ENSP00000342836:Q230E	Q	+	1	0	OR6C74	53928026	0.000000	0.05858	0.649000	0.29536	0.955000	0.61496	-0.361000	0.07612	1.393000	0.46605	0.551000	0.68910	CAA	OR6C74	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	C			55641759	1	no_errors	ENST00000343870	ensembl	human	known	70_37	missense	SNP	0.020	G	G	55641759	C	G	55641759	3	3	185	1	0	0	0	0	1	0	0	0	11222	827	29	1	690	1	OR6C74	12	55641759	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	26144	55641759	78210136	1001	35276										
ERBB3	2065	genome.wustl.edu	37	chr12	56486842	56486842	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttccaatttgacaaccattgGaggcagaagcctctacaagt	8	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:56486842G>C	ENST00000267101.3	+	11	1696	c.1256G>C	c.(1255-1257)gGa>gCa	p.G419A	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.G360A	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	419					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACAACCATTGGAGGCAGAAGC	0.478																																																	0													64	63	63					12																	56486842		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1256G>C	12.37:g.56486842G>C	ENSP00000267101:p.Gly419Ala		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G419A	ENST00000267101.3	37	c.1256	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086488	0.36855	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.78707	-1.2;-1.2	5.06	2.05	0.26809	EGF receptor, L domain (1);	0.177858	0.37761	N	0.001947	T	0.73806	0.3634	M	0.77820	2.39	0.80722	D	1	B	0.17038	0.02	B	0.28709	0.093	T	0.62932	-0.6749	10	0.28530	T	0.3	.	5.6254	0.17480	0.1843:0.0:0.6592:0.1565	.	419	P21860	ERBB3_HUMAN	A	419;360	ENSP00000267101:G419A;ENSP00000408340:G360A	ENSP00000267101:G419A	G	+	2	0	ERBB3	54773109	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.540000	0.67205	0.260000	0.21731	-0.136000	0.14681	GGA	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.478	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56486842	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.999	C	C	56486842	G	C	56486842	3	2	185	1	0	0	0	0	1	0	0	0	5220	1174	41	1	1429	1	ERBB3	12	56486842	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	845083	56486842	77365053	1002	35277										
ESYT1	23344	genome.wustl.edu	37	chr12	56531321	56531321	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtattagaggcccaggacctGattgccaaagaccgtttctt	10	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:56531321G>A	ENST00000394048.5	+	18	2241	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	ESYT1_ENST00000267113.4_Silent_p.L669L|ESYT1_ENST00000541590.1_Silent_p.L669L	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	659	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCCAGGACCTGATTGCCAAAG	0.547																																																	0													168	171	170					12																	56531321		2203	4300	6503	SO:0001819	synonymous_variant	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1977G>A	12.37:g.56531321G>A			A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.L669	ENST00000394048.5	37	c.2007	CCDS8904.1	12																																																																																			ESYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.547	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	G	NM_015292		56531321	1	no_errors	ENST00000267113	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56531321	G	A	56531321	2	1	185	1	0	0	0	0	0	0	0	1	5276	1277	45	1		1	ESYT1	12	56531321	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	44479	56531321	77320574	1003	35278										
STAT2	6773	genome.wustl.edu	37	chr12	56737278	56737278	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccaacagtgggtcaccattCggcatgatttcttcaatctt	8	11	4	1	rs372474228		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:56737278C>T	ENST00000314128.4	-	24	2474	c.2451G>A	c.(2449-2451)ccG>ccA	p.P817P	STAT2_ENST00000557235.1_Silent_p.P813P|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	817					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P817P(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GGTCACCATTCGGCATGATTT	0.512																																																	1	Substitution - coding silent(1)	lung(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	124	94	104		2451,2439	-5.5	0	12		104	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STAT2	NM_005419.3,NM_198332.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	817/852,813/848	56737278	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2451G>A	12.37:g.56737278C>T			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.P817	ENST00000314128.4	37	c.2451	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT2_C		0.512	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56737278	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.009	T	T	56737278	C	T	56737278	2	4	185	1	0	0	0	0	0	0	0	1	15295	871	31	1		1	STAT2	12	56737278	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	205957	56737278	77114617	1004	35279										
GLS2	27165	genome.wustl.edu	37	chr12	56868639	56868639	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgttttcttacctggaagtaGagatcaagggcagccatcat	10	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:56868639G>C	ENST00000311966.4	-	11	1316	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	346					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CCTGGAAGTAGAGATCAAGGG	0.547																																																	0													120	110	113					12																	56868639		2203	4300	6503	SO:0001819	synonymous_variant	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1038C>G	12.37:g.56868639G>C			B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.L346	ENST00000311966.4	37	c.1038	CCDS8921.1	12																																																																																			GLS2	-	pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase		0.547	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	HGNC	protein_coding	OTTHUMT00000277113.1	G	NM_013267		56868639	-1	no_errors	ENST00000311966	ensembl	human	known	70_37	silent	SNP	1.000	C	C	56868639	G	C	56868639	2	2	185	1	0	0	0	0	0	0	0	1	6483	929	33	1		1	GLS2	12	56868639	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	131361	56868639	76983256	1005	35280										
NAB2	4665	genome.wustl.edu	37	chr12	57485124	57485124	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctccatgtccggcgcctgcaGaaggcactgagagagtgggc	15	12	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:57485124G>A	ENST00000300131.3	+	2	678	c.300G>A	c.(298-300)caG>caA	p.Q100Q	NAB2_ENST00000342556.6_Silent_p.Q100Q|NAB2_ENST00000357680.4_Silent_p.Q100Q|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	100	NCD1.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCGCCTGCAGAAGGCACTGA	0.602																																																	0													75	85	82					12																	57485124		2203	4300	6503	SO:0001819	synonymous_variant	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.300G>A	12.37:g.57485124G>A			B2RAK3|O76006|Q14797	Silent	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.Q100	ENST00000300131.3	37	c.300	CCDS8930.1	12																																																																																			NAB2	-	pfam_Nab_N,superfamily_SAM/pointed		0.602	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	G	NM_005967		57485124	1	no_errors	ENST00000300131	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57485124	G	A	57485124	2	1	185	1	0	0	0	0	0	0	0	1	10155	933	33	1		1	NAB2	12	57485124	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	616485	57485124	76366771	1006	35281										
SHMT2	6472	genome.wustl.edu	37	chr12	57625512	57625512	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcagatactatgggggagcaGaggtggtggatgaaattgag	18	3	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:57625512G>C	ENST00000328923.3	+	4	780	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	SHMT2_ENST00000393827.4_Missense_Mutation_p.Q4H|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.E89Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.E89Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.E110Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.E89Q	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	110					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TGGGGGAGCAGAGGTGGTGGA	0.562																																					Esophageal Squamous(150;1369 2416 49071 49364)												0													91	91	91					12																	57625512		2203	4300	6503	SO:0001583	missense	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.328G>C	12.37:g.57625512G>C	ENSP00000333667:p.Glu110Gln		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase	p.E110Q	ENST00000328923.3	37	c.328	CCDS8934.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.533514|3.533514	0.64972|0.64972	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737|ENST00000393827	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.52526|0.34072	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66|1.38	4.82|4.82	4.82|4.82	0.62117|0.62117	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.110893|.	0.64402|.	D|.	0.000016|.	T|T	0.38692|0.38692	0.1050|0.1050	L|L	0.49256|0.49256	1.55|1.55	0.31991|0.31991	N|N	0.604581|0.604581	P;P;B|B	0.36412|0.33448	0.527;0.552;0.303|0.412	B;B;B|B	0.41236|0.34722	0.351;0.285;0.145|0.188	T|T	0.53272|0.53272	-0.8462|-0.8462	10|9	0.40728|0.87932	T|D	0.16|0	-2.4613|-2.4613	17.2171|17.2171	0.86947|0.86947	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	119;110;110|4	B4DWA7;Q8N1A5;P34897|B4DLV4	.;.;GLYM_HUMAN|.	Q|H	110;110;110;89;89;89;89;89;89;89;89;89;89|4	ENSP00000333667:E110Q;ENSP00000452315:E110Q;ENSP00000452035:E110Q;ENSP00000406881:E89Q;ENSP00000450452:E89Q;ENSP00000452161:E89Q;ENSP00000450893:E89Q;ENSP00000452045:E89Q;ENSP00000452419:E89Q;ENSP00000451968:E89Q;ENSP00000452404:E89Q;ENSP00000413770:E89Q;ENSP00000451495:E89Q|ENSP00000377413:Q4H	ENSP00000333667:E110Q|ENSP00000377413:Q4H	E|Q	+|+	1|3	0|2	SHMT2|SHMT2	55911779|55911779	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.970000|0.970000	0.65996|0.65996	9.594000|9.594000	0.98254|0.98254	2.677000|2.677000	0.91161|0.91161	0.561000|0.561000	0.74099|0.74099	GAG|CAG	SHMT2	-	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase		0.562	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT2	HGNC	protein_coding	OTTHUMT00000412525.2	G	NM_005412		57625512	1	no_errors	ENST00000328923	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57625512	G	C	57625512	3	2	185	1	0	0	0	0	1	0	0	0	14316	943	33	1	342	1	SHMT2	12	57625512	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	140388	57625512	76226383	1007	35282										
MARS	4141	genome.wustl.edu	37	chr12	57881885	57881885	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacggcgaaatgagactgttCgtgagtgatggcgtcccggg	16	9	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:57881885C>G	ENST00000262027.5	+	1	146	c.12C>G	c.(10-12)ttC>ttG	p.F4L	MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000393797.2_Intron|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000550288.1_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	4					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGAGACTGTTCGTGAGTGATG	0.657																																																	0													120	120	120					12																	57881885		2203	4300	6503	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.12C>G	12.37:g.57881885C>G	ENSP00000262027:p.Phe4Leu		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.F4L	ENST00000262027.5	37	c.12	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974908	0.53720	.	.	ENSG00000166986	ENST00000262027	T	0.75821	-0.97	4.29	0.309	0.15820	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	N	0.25647	0.755	0.80722	D	1	D;B	0.58268	0.982;0.15	D;B	0.66351	0.943;0.018	T	0.63079	-0.6717	10	0.18710	T	0.47	-13.7397	8.3455	0.32270	0.0:0.6505:0.0:0.3495	.	4;4	B4E0E9;P56192	.;SYMC_HUMAN	L	4	ENSP00000262027:F4L	ENSP00000262027:F4L	F	+	3	2	MARS	56168152	1.000000	0.71417	0.997000	0.53966	0.125000	0.20455	0.427000	0.21379	-0.050000	0.13356	-0.350000	0.07774	TTC	MARS	-	superfamily_Thioredoxin-like_fold		0.657	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	C	NM_004990		57881885	1	no_errors	ENST00000262027	ensembl	human	known	70_37	missense	SNP	1.000	G	G	57881885	C	G	57881885	3	3	185	1	0	0	0	0	1	0	0	0	9339	883	31	1	14	1	MARS	12	57881885	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	256373	57881885	75970010	1008	35283										
MBD6	114785	genome.wustl.edu	37	chr12	57920520	57920520	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcagggcctggcactgagtgGagctggcttccctgggatgc	17	11	0	1	rs201149080		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:57920520G>C	ENST00000355673.3	+	7	1948	c.1592G>C	c.(1591-1593)gGa>gCa	p.G531A	MBD6_ENST00000431731.2_Missense_Mutation_p.G531A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	531	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GCACTGAGTGGAGCTGGCTTC	0.647																																																	0													60	53	55					12																	57920520		2203	4300	6503	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1592G>C	12.37:g.57920520G>C	ENSP00000347896:p.Gly531Ala		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.G531A	ENST00000355673.3	37	c.1592	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355203	0.24512	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.07	4.07	0.47477	.	0.290972	0.23971	N	0.042779	T	0.32882	0.0844	N	0.08118	0	0.33520	D	0.592317	D;P	0.71674	0.998;0.546	D;B	0.63957	0.92;0.115	T	0.32052	-0.9921	9	0.15066	T	0.55	-2.0048	5.9385	0.19179	0.1041:0.1974:0.6985:0.0	.	531;531	Q6P0P0;Q96DN6	.;MBD6_HUMAN	A	531	.	ENSP00000347896:G531A	G	+	2	0	MBD6	56206787	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.768000	0.38511	2.283000	0.76528	0.561000	0.74099	GGA	MBD6	-	NULL		0.647	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	G			57920520	1	no_errors	ENST00000355673	ensembl	human	known	70_37	missense	SNP	1.000	C	C	57920520	G	C	57920520	3	2	185	1	0	0	0	0	1	0	0	0	9371	1174	41	1	1610	1	MBD6	12	57920520	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	38635	57920520	75931375	1009	35284										
CTDSP2	10106	genome.wustl.edu	37	chr12	58240198	58240198	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcttccctccgcgcctgggtGatgatggagccgtgttccat	12	13	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:58240198G>A	ENST00000398073.2	-	1	324	c.21C>T	c.(19-21)atC>atT	p.I7I	CTDSP2_ENST00000548823.1_Silent_p.I7I|CTDSP2_ENST00000547701.1_5'Flank	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	7					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GCGCCTGGGTGATGATGGAGC	0.721																																																	0													21	24	23					12																	58240198		1885	4105	5990	SO:0001819	synonymous_variant	10106			AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.21C>T	12.37:g.58240198G>A			A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.I7	ENST00000398073.2	37	c.21	CCDS41801.1	12																																																																																			CTDSP2	-	NULL		0.721	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSP2	HGNC	protein_coding	OTTHUMT00000409353.1	G	NM_005730		58240198	-1	no_errors	ENST00000398073	ensembl	human	known	70_37	silent	SNP	1.000	A	A	58240198	G	A	58240198	2	1	185	1	0	0	0	0	0	0	0	1	4009	1280	45	1		1	CTDSP2	12	58240198	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	319678	58240198	75611697	1010	35285										
LRIG3	121227	genome.wustl.edu	37	chr12	59308076	59308076	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggctttgaaggtggctcatgGaacttgccttgatgaaagat	13	6	1	4	rs571495948		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:59308076G>C	ENST00000320743.3	-	2	564	c.278C>G	c.(277-279)tCc>tGc	p.S93C	LRIG3_ENST00000379141.4_Missense_Mutation_p.S33C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	93					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			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)			GTGGCTCATGGAACTTGCCTT	0.323			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													111	118	115					12																	59308076		2203	4300	6503	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.278C>G	12.37:g.59308076G>C	ENSP00000326759:p.Ser93Cys		Q6UXL7|Q8NC72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S93C	ENST00000320743.3	37	c.278	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683953	0.68157	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.31769	1.78;1.48	6.07	6.07	0.98685	.	0.000000	0.34906	N	0.003586	T	0.45498	0.1345	M	0.71920	2.185	0.38427	D	0.946331	D;P	0.54601	0.967;0.947	P;P	0.52267	0.694;0.628	T	0.43766	-0.9371	9	.	.	.	.	14.2203	0.65823	0.0761:0.0:0.9239:0.0	.	33;93	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	C	33;93	ENSP00000368436:S33C;ENSP00000326759:S93C	.	S	-	2	0	LRIG3	57594343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.915000	0.63355	2.885000	0.99019	0.655000	0.94253	TCC	LRIG3	-	smart_Leu-rich_rpt_typical-subtyp		0.323	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	G	NM_153377		59308076	-1	no_errors	ENST00000320743	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59308076	G	C	59308076	3	2	185	1	0	0	0	0	1	0	0	0	8969	1174	41	1	3153	1	LRIG3	12	59308076	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1067878	59308076	74543819	1011	35286										
TBK1	29110	genome.wustl.edu	37	chr12	64849669	64849669	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agatgcagagcacttctaatCatctgtggcttttatctgat	8	8	4	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:64849669C>T	ENST00000331710.5	+	2	358	c.19C>T	c.(19-21)Cat>Tat	p.H7Y		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	7					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CACTTCTAATCATCTGTGGCT	0.368																																																	0													94	89	91					12																	64849669		2203	4300	6503	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.19C>T	12.37:g.64849669C>T	ENSP00000329967:p.His7Tyr		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H7Y	ENST00000331710.5	37	c.19	CCDS8968.1	12	.	.	.	.	.	.	.	.	.	.	C	3.913	-0.019706	0.07634	.	.	ENSG00000183735	ENST00000331710;ENST00000538890;ENST00000540417	T;T;T	0.62639	0.01;2.34;2.36	5.03	5.03	0.67393	.	0.133866	0.51477	D	0.000097	T	0.28366	0.0701	N	0.00991	-1.07	0.47819	D	0.999523	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	9	.	.	.	-10.019	10.0745	0.42351	0.0:0.8749:0.0:0.1251	.	7	Q9UHD2	TBK1_HUMAN	Y	7	ENSP00000329967:H7Y;ENSP00000445834:H7Y;ENSP00000445628:H7Y	.	H	+	1	0	TBK1	63135936	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.839000	0.62810	2.503000	0.84419	0.555000	0.69702	CAT	TBK1	-	NULL		0.368	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	C	NM_013254		64849669	1	no_errors	ENST00000331710	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64849669	C	T	64849669	3	4	185	1	0	0	0	0	1	0	0	0	15667	826	29	1	21	1	TBK1	12	64849669	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5541593	64849669	69002226	1012	35287										
TBK1	29110	genome.wustl.edu	37	chr12	64890164	64890164	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taggattagcttataatgaaGaacaaatccacaaatttgat	6	5	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:64890164G>A	ENST00000331710.5	+	16	2077	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	580					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TTATAATGAAGAACAAATCCA	0.224																																																	0													24	28	26					12																	64890164		2139	4240	6379	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1738G>A	12.37:g.64890164G>A	ENSP00000329967:p.Glu580Lys		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E580K	ENST00000331710.5	37	c.1738	CCDS8968.1	12	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953964	0.92660	.	.	ENSG00000183735	ENST00000331710	T	0.18174	2.23	4.86	4.86	0.63082	.	0.105242	0.64402	D	0.000007	T	0.31513	0.0799	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.01436	-1.1355	9	.	.	.	-14.8138	18.8914	0.92406	0.0:0.0:1.0:0.0	.	580	Q9UHD2	TBK1_HUMAN	K	580	ENSP00000329967:E580K	.	E	+	1	0	TBK1	63176431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.424000	0.90267	2.648000	0.89879	0.561000	0.74099	GAA	TBK1	-	NULL		0.224	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	G	NM_013254		64890164	1	no_errors	ENST00000331710	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64890164	G	A	64890164	3	1	185	1	0	0	0	0	1	0	0	0	15667	943	33	1	1796	1	TBK1	12	64890164	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	40495	64890164	68961731	1013	35288										
GRIP1	23426	genome.wustl.edu	37	chr12	66786232	66786232	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcctccacatcccccaggtCactcaaatggctagaaatag	6	15	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:66786232C>T	ENST00000398016.3	-	18	2232	c.2164G>A	c.(2164-2166)Gac>Aac	p.D722N	GRIP1_ENST00000286445.7_Missense_Mutation_p.D774N|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Missense_Mutation_p.D774N	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCCCCAGGTCACTCAAATGG	0.498																																																	0													131	129	129					12																	66786232		1942	4150	6092	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2164G>A	12.37:g.66786232C>T	ENSP00000381098:p.Asp722Asn		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D774N	ENST00000398016.3	37	c.2320	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182779	0.38511	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.19532	2.15;2.14;2.14;2.14;2.2;2.21	4.83	4.83	0.62350	.	0.306795	0.39909	N	0.001230	T	0.15609	0.0376	N	0.19112	0.55	0.43874	D	0.996484	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.10450	0.005;0.0;0.003;0.004	T	0.07908	-1.0748	9	.	.	.	-14.3596	18.4992	0.90875	0.0:1.0:0.0:0.0	.	722;774;722;774	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	N	722;774;774;722;666;614	ENSP00000381098:D722N;ENSP00000352780:D774N;ENSP00000286445:D774N;ENSP00000446047:D722N;ENSP00000446024:D666N;ENSP00000446011:D614N	.	D	-	1	0	GRIP1	65072499	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	4.474000	0.60203	2.691000	0.91804	0.561000	0.74099	GAC	GRIP1	-	NULL		0.498	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66786232	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66786232	C	T	66786232	3	4	185	1	0	0	0	0	1	0	0	0	6807	826	29	1	1094	1	GRIP1	12	66786232	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1896068	66786232	67065663	1014	35289										
CPSF6	11052	genome.wustl.edu	37	chr12	69656167	69656167	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tagaagacgtgaacgatcaaGagagagggaccatagtagat	13	5	1	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:69656167G>C	ENST00000435070.2	+	9	1594	c.1484G>C	c.(1483-1485)aGa>aCa	p.R495T	CPSF6_ENST00000456847.3_Missense_Mutation_p.R422T|CPSF6_ENST00000266679.8_Missense_Mutation_p.R532T|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	495	Arg-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GAACGATCAAGAGAGAGGGAC	0.368																																																	0													109	101	104					12																	69656167		2203	4300	6503	SO:0001583	missense	11052			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1484G>C	12.37:g.69656167G>C	ENSP00000391774:p.Arg495Thr		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R532T	ENST00000435070.2	37	c.1595	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823180	0.71143	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.62232	0.04;0.04;0.04	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	L	0.52905	1.665	0.80722	D	1	P;D;D	0.61080	0.945;0.989;0.967	D;D;P	0.72625	0.943;0.978;0.879	T	0.72265	-0.4344	9	.	.	.	-12.4081	20.3075	0.98634	0.0:0.0:1.0:0.0	.	244;532;495	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	T	495;422;532	ENSP00000391774:R495T;ENSP00000391437:R422T;ENSP00000266679:R532T	.	R	+	2	0	CPSF6	67942434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	AGA	CPSF6	-	NULL		0.368	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	G	NM_007007		69656167	1	no_errors	ENST00000266679	ensembl	human	known	70_37	missense	SNP	1.000	C	C	69656167	G	C	69656167	3	2	185	1	0	0	0	0	1	0	0	0	3834	942	33	1	1518	1	CPSF6	12	69656167	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2869935	69656167	64195728	1015	35290										
FRS2	10818	genome.wustl.edu	37	chr12	69968496	69968496	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atatcagacgcccaagtttaGaacacaggcagcttaattac	7	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:69968496G>A	ENST00000550389.1	+	7	1534	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	FRS2_ENST00000397997.2_Missense_Mutation_p.E430K|FRS2_ENST00000299293.2_Missense_Mutation_p.E430K|FRS2_ENST00000549921.1_Missense_Mutation_p.E430K	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	430					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCCAAGTTTAGAACACAGGCA	0.453																																																	0													65	70	69					12																	69968496		2060	4209	6269	SO:0001583	missense	10818			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1288G>A	12.37:g.69968496G>A	ENSP00000447241:p.Glu430Lys		B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.E430K	ENST00000550389.1	37	c.1288	CCDS41809.1	12	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649926	0.67472	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	6.17	6.17	0.99709	.	0.209202	0.51477	D	0.000095	T	0.25568	0.0622	L	0.52573	1.65	0.54753	D	0.999988	P	0.43477	0.808	B	0.33339	0.162	T	0.02042	-1.1224	9	.	.	.	-23.094	20.8794	0.99867	0.0:0.0:1.0:0.0	.	430	Q8WU20	FRS2_HUMAN	K	430	ENSP00000299293:E430K;ENSP00000450048:E430K;ENSP00000447241:E430K;ENSP00000381083:E430K	.	E	+	1	0	FRS2	68254763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.296000	0.78790	2.941000	0.99782	0.655000	0.94253	GAA	FRS2	-	NULL		0.453	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS2	HGNC	protein_coding	OTTHUMT00000403760.1	G	NM_006654		69968496	1	no_errors	ENST00000299293	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69968496	G	A	69968496	3	1	185	1	0	0	0	0	1	0	0	0	6079	943	33	1	1306	1	FRS2	12	69968496	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	312329	69968496	63883399	1016	35291										
TSPAN8	7103	genome.wustl.edu	37	chr12	71531992	71531992	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacctgcaggagcaggatcaGaagcaagcctatgaaaaact	10	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:71531992G>C	ENST00000393330.2	-	8	832	c.280C>G	c.(280-282)Ctg>Gtg	p.L94V	TSPAN8_ENST00000546561.1_Missense_Mutation_p.L94V|TSPAN8_ENST00000247829.3_Missense_Mutation_p.L94V|TSPAN8_ENST00000552786.1_5'Flank|TSPAN8_ENST00000552128.1_Missense_Mutation_p.L11V			P19075	TSN8_HUMAN	tetraspanin 8	94					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AGCAGGATCAGAAGCAAGCCT	0.403																																																	0													112	128	122					12																	71531992		2203	4300	6503	SO:0001583	missense	7103			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.280C>G	12.37:g.71531992G>C	ENSP00000377003:p.Leu94Val		B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L94V	ENST00000393330.2	37	c.280	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.866575	0.00547	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.71	-1.39	0.08997	.	0.564784	0.18328	N	0.144579	T	0.59905	0.2228	N	0.21373	0.66	0.38052	D	0.935819	B	0.19817	0.039	B	0.20955	0.032	T	0.32455	-0.9906	10	0.22109	T	0.4	.	3.6826	0.08316	0.1472:0.3462:0.3882:0.1184	.	94	P19075	TSN8_HUMAN	V	94;94;94;11	ENSP00000377003:L94V;ENSP00000247829:L94V;ENSP00000447160:L94V;ENSP00000449820:L11V	ENSP00000247829:L94V	L	-	1	2	TSPAN8	69818259	0.060000	0.20803	0.744000	0.31058	0.175000	0.22909	-0.968000	0.03817	-0.229000	0.09854	-0.150000	0.13652	CTG	TSPAN8	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.403	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	G	NM_004616		71531992	-1	no_errors	ENST00000247829	ensembl	human	known	70_37	missense	SNP	0.978	C	C	71531992	G	C	71531992	3	2	185	1	0	0	0	0	1	0	0	0	16684	933	33	1	453	1	TSPAN8	12	71531992	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1563496	71531992	62319903	1017	35292										
PHLDA1	22822	genome.wustl.edu	37	chr12	76424317	76424317	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcccgggagctgcccctttCaggcagagttggaggtgctg	16	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:76424317C>T	ENST00000266671.5	-	1	3395	c.1205G>A	c.(1204-1206)tGa>tAa	p.*402*	PHLDA1_ENST00000602540.1_Silent_p.*261*|RP11-290L1.2_ENST00000547721.1_RNA|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	0					apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CTGCCCCTTTCAGGCAGAGTT	0.662																																																	0													55	54	55					12																	76424317		2203	4300	6503	SO:0001819	synonymous_variant	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.1205G>A	12.37:g.76424317C>T			A1A4G9|Q15184|Q2TAN2|Q9NZ17	Silent	SNP	smart_Pleckstrin_homology	p.*402	ENST00000266671.5	37	c.1205	CCDS31861.1	12																																																																																			PHLDA1	-	NULL		0.662	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHLDA1	HGNC	protein_coding	OTTHUMT00000405846.2	C	NM_007350		76424317	-1	no_errors	ENST00000266671	ensembl	human	known	70_37	silent	SNP	1.000	T	T	76424317	C	T	76424317	2	4	185	1	0	0	0	0	0	0	0	1	11872	837	29	1		1	PHLDA1	12	76424317	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4892325	76424317	57427578	1018	35293										
NAP1L1	4673	genome.wustl.edu	37	chr12	76462755	76462755	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacatcatccaaatcttgatCaagttcagactgttctttgc	5	10	5	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:76462755C>G	ENST00000261182.8	-	3	523	c.37G>C	c.(37-39)Gat>Cat	p.D13H	NAP1L1_ENST00000547773.1_Intron|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D13H|NAP1L1_ENST00000542344.1_Intron|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D13H|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D13H|NAP1L1_ENST00000548044.1_5'UTR|NAP1L1_ENST00000544816.1_Intron|NAP1L1_ENST00000431879.3_5'UTR|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D13H	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	13	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AAATCTTGATCAAGTTCAGAC	0.313																																																	0													182	183	183					12																	76462755		2203	4300	6503	SO:0001583	missense	4673				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.37G>C	12.37:g.76462755C>G	ENSP00000261182:p.Asp13His		B3KNT8	Missense_Mutation	SNP	pfam_NAP_family	p.D13H	ENST00000261182.8	37	c.37	CCDS9013.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563691	0.86335	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000550934;ENST00000551992;ENST00000551600;ENST00000547704;ENST00000547479	T;T;T;T;T;T;T;T	0.40225	1.33;1.34;1.33;1.29;1.32;1.04;1.05;1.31	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.951;0.99;0.99	T	0.51733	-0.8668	10	0.30854	T	0.27	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	13;13;13;13	F5H4R6;F8W0J6;B3KNT8;P55209	.;.;.;NP1L1_HUMAN	H	13;7;13;13;13;13;13;13;13;13;13	ENSP00000261182:D13H;ENSP00000450236:D7H;ENSP00000376947:D13H;ENSP00000445008:D13H;ENSP00000447793:D13H;ENSP00000447196:D13H;ENSP00000448133:D13H;ENSP00000448764:D13H	ENSP00000261182:D13H	D	-	1	0	NAP1L1	74749022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.979000	0.70508	2.778000	0.95560	0.655000	0.94253	GAT	NAP1L1	-	NULL		0.313	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L1	HGNC	protein_coding	OTTHUMT00000405850.3	C	NM_139207		76462755	-1	no_errors	ENST00000261182	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76462755	C	G	76462755	3	3	185	1	0	0	0	0	1	0	0	0	10179	826	29	1	1190	1	NAP1L1	12	76462755	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	38438	76462755	57389140	1019	35294										
NAV3	89795	genome.wustl.edu	37	chr12	78582497	78582497	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccataacctagaagtgcctGaattgctgccttgtggatac	9	11	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:78582497G>C	ENST00000397909.2	+	33	6168	c.5995G>C	c.(5995-5997)Gaa>Caa	p.E1999Q	NAV3_ENST00000536525.2_Missense_Mutation_p.E1977Q|NAV3_ENST00000228327.6_Missense_Mutation_p.E1977Q|NAV3_ENST00000266692.7_Missense_Mutation_p.E1800Q|NAV3_ENST00000552300.1_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1999						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAAGTGCCTGAATTGCTGCC	0.388										HNSCC(70;0.22)																																							0													118	113	114					12																	78582497		1914	4125	6039	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5995G>C	12.37:g.78582497G>C	ENSP00000381007:p.Glu1999Gln		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E1999Q	ENST00000397909.2	37	c.5995		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.125507|5.125507	0.94429|0.94429	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.30714|.	1.59;1.59;1.59;1.52;2.4|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.41097|.	U|.	0.000945|.	T|.	0.76364|.	0.3977|.	M|M	0.69463|0.69463	2.115|2.115	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.996;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.98;0.991;0.997;0.997|.	T|.	0.72969|.	-0.4130|.	10|.	0.48119|.	T|.	0.1|.	-15.0885|-15.0885	20.3967|20.3967	0.98985|0.98985	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1977;1800;1999;1977|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	Q|S	1977;1999;1977;1800;591;599|871	ENSP00000446132:E1977Q;ENSP00000381007:E1999Q;ENSP00000228327:E1977Q;ENSP00000266692:E1800Q;ENSP00000448303:E599Q|.	ENSP00000228327:E1977Q|.	E|X	+|+	1|2	0|2	NAV3|NAV3	77106628|77106628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.786000|9.786000	0.99046|0.99046	2.829000|2.829000	0.97493|0.97493	0.655000|0.655000	0.94253|0.94253	GAA|TGA	NAV3	-	NULL		0.388	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78582497	1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78582497	G	C	78582497	3	2	185	1	0	0	0	0	1	0	0	0	10208	1291	45	1	6055	1	NAV3	12	78582497	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2119742	78582497	55269398	1020	35295										
MYF5	4617	genome.wustl.edu	37	chr12	81111256	81111256	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagagcctgcaggagttgctGagagagcaggtggagaacta	17	6	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:81111256G>C	ENST00000228644.3	+	1	566	c.414G>C	c.(412-414)ctG>ctC	p.L138L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	138					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGGAGTTGCTGAGAGAGCAGG	0.582																																																	0													107	110	109					12																	81111256		2203	4300	6503	SO:0001819	synonymous_variant	4617				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.414G>C	12.37:g.81111256G>C			Q6ISR9	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.L138	ENST00000228644.3	37	c.414	CCDS9020.1	12																																																																																			MYF5	-	superfamily_HLH_dom,smart_HLH_dom		0.582	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	HGNC	protein_coding	OTTHUMT00000407757.1	G	NM_005593		81111256	1	no_errors	ENST00000228644	ensembl	human	known	70_37	silent	SNP	1.000	C	C	81111256	G	C	81111256	2	2	185	1	0	0	0	0	0	0	0	1	10050	1277	45	1		1	MYF5	12	81111256	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2528759	81111256	52740639	1021	35296										
LRRIQ1	84125	genome.wustl.edu	37	chr12	85546833	85546833	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttaaaatgggatgatacttCatttaatttaccaagtaatc	5	6	1	1	rs371713800		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:85546833C>G	ENST00000393217.2	+	21	4512	c.4451C>G	c.(4450-4452)tCa>tGa	p.S1484*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1484										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATGATACTTCATTTAATTTA	0.279																																																	0													75	72	73					12																	85546833		1810	4054	5864	SO:0001587	stop_gained	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4451C>G	12.37:g.85546833C>G	ENSP00000376910:p.Ser1484*		Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.S1484*	ENST00000393217.2	37	c.4451	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.100821	0.98063	.	.	ENSG00000133640	ENST00000393217	.	.	.	5.47	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2217	0.54437	0.0:0.9199:0.0:0.0801	.	.	.	.	X	1484	.	ENSP00000376910:S1484X	S	+	2	0	LRRIQ1	84070964	0.890000	0.30428	0.152000	0.22495	0.037000	0.13140	2.585000	0.46111	1.312000	0.45043	0.585000	0.79938	TCA	LRRIQ1	-	NULL		0.279	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	C	NM_032165		85546833	1	no_errors	ENST00000393217	ensembl	human	known	70_37	nonsense	SNP	0.875	G	G	85546833	C	G	85546833	4	3	185	1	0	0	0	0	0	1	0	0	9052	838	29	1	4533	1	LRRIQ1	12	85546833	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4435577	85546833	48305062	1022	35297										
EEA1	8411	genome.wustl.edu	37	chr12	93226593	93226593	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcctctaacttagtatagtCttgttcttttttcagcaagt	5	9	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:93226593C>T	ENST00000322349.8	-	11	1213	c.949G>A	c.(949-951)Gac>Aac	p.D317N		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	317					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTAGTATAGTCTTGTTCTTTT	0.289																																																	0													66	64	64					12																	93226593		2203	4298	6501	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.949G>A	12.37:g.93226593C>T	ENSP00000317955:p.Asp317Asn		Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.D317N	ENST00000322349.8	37	c.949	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738435	0.69304	.	.	ENSG00000102189	ENST00000322349	D	0.82893	-1.66	5.7	5.7	0.88788	.	0.220941	0.30762	N	0.008929	T	0.76593	0.4009	L	0.29908	0.895	0.58432	D	0.999996	P	0.34562	0.457	B	0.32624	0.149	T	0.74016	-0.3800	10	0.33141	T	0.24	.	19.8321	0.96640	0.0:1.0:0.0:0.0	.	317	Q15075	EEA1_HUMAN	N	317	ENSP00000317955:D317N	ENSP00000317955:D317N	D	-	1	0	EEA1	91750724	1.000000	0.71417	0.117000	0.21633	0.877000	0.50540	6.592000	0.74095	2.685000	0.91497	0.655000	0.94253	GAC	EEA1	-	NULL		0.289	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	C	NM_003566		93226593	-1	no_errors	ENST00000322349	ensembl	human	known	70_37	missense	SNP	0.992	T	T	93226593	C	T	93226593	3	4	185	1	0	0	0	0	1	0	0	0	4931	913	32	1	3362	1	EEA1	12	93226593	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7679760	93226593	40625302	1023	35298										
PLXNC1	10154	genome.wustl.edu	37	chr12	94691157	94691157	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catcgagggaagcacaagttCaaagtaaaagaaatgtatct	9	6	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:94691157C>T	ENST00000258526.4	+	26	4281	c.4032C>T	c.(4030-4032)ttC>ttT	p.F1344F	PLXNC1_ENST00000545312.1_Silent_p.F83F|PLXNC1_ENST00000547057.1_Silent_p.F391F	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1344					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.F1344L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCACAAGTTCAAAGTAAAAG	0.448																																																	1	Substitution - Missense(1)	urinary_tract(1)											100	89	93					12																	94691157		2203	4300	6503	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4032C>T	12.37:g.94691157C>T			Q59H25	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F1344	ENST00000258526.4	37	c.4032	CCDS9049.1	12																																																																																			PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.448	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	C			94691157	1	no_errors	ENST00000258526	ensembl	human	known	70_37	silent	SNP	1.000	T	T	94691157	C	T	94691157	2	4	185	1	0	0	0	0	0	0	0	1	12150	825	29	1		1	PLXNC1	12	94691157	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1464564	94691157	39160738	1024	35299										
PLXNC1	10154	genome.wustl.edu	37	chr12	94697586	94697586	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atatcccaacctacaaagaaGaagtaaaatcttattacaaa	3	8	1	2	rs143848397		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:94697586G>C	ENST00000258526.4	+	29	4690	c.4441G>C	c.(4441-4443)Gaa>Caa	p.E1481Q	PLXNC1_ENST00000545312.1_Missense_Mutation_p.E220Q|PLXNC1_ENST00000547057.1_Missense_Mutation_p.E528Q	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1481					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTACAAAGAAGAAGTAAAATC	0.348																																																	0													70	70	70					12																	94697586		2203	4299	6502	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4441G>C	12.37:g.94697586G>C	ENSP00000258526:p.Glu1481Gln		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1481Q	ENST00000258526.4	37	c.4441	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390384	0.62066	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.18174	2.23;2.23;2.23	5.0	5.0	0.66597	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.963;0.999	T	0.02829	-1.1105	10	0.19590	T	0.45	.	18.3011	0.90164	0.0:0.0:1.0:0.0	.	528;1481	B4DHQ7;O60486	.;PLXC1_HUMAN	Q	1481;528;220	ENSP00000258526:E1481Q;ENSP00000446720:E528Q;ENSP00000439225:E220Q	ENSP00000258526:E1481Q	E	+	1	0	PLXNC1	93221717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.658000	0.61497	2.316000	0.78162	0.655000	0.94253	GAA	PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.348	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94697586	1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	1.000	C	C	94697586	G	C	94697586	3	2	185	1	0	0	0	0	1	0	0	0	12150	943	33	1	4555	1	PLXNC1	12	94697586	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6429	94697586	39154309	1025	35300										
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100451410	100451410	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aataactgttcttccaatatCatgctgtcaagtgaaatggt	7	7	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:100451410C>T	ENST00000279907.7	-	15	3575	c.3363G>A	c.(3361-3363)atG>atA	p.M1121I	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.M771I	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1121										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTCCAATATCATGCTGTCAA	0.363																																																	0													121	113	116					12																	100451410		2203	4300	6503	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3363G>A	12.37:g.100451410C>T	ENSP00000279907:p.Met1121Ile		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.M1121I	ENST00000279907.7	37	c.3363	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906658	0.33628	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.17213	2.29;2.29	5.7	5.7	0.88788	.	0.152676	0.64402	D	0.000008	T	0.21145	0.0509	L	0.57536	1.79	0.80722	D	1	B	0.18310	0.027	B	0.21151	0.033	T	0.01198	-1.1421	10	0.39692	T	0.17	-17.3413	15.6572	0.77150	0.0:0.8635:0.1365:0.0	.	1121	A0JNW5	UH1BL_HUMAN	I	1121;771	ENSP00000279907:M1121I;ENSP00000444824:M771I	ENSP00000279907:M1121I	M	-	3	0	UHRF1BP1L	98975541	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	2.423000	0.44705	2.846000	0.97976	0.650000	0.86243	ATG	UHRF1BP1L	-	NULL		0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	C	NM_001006947		100451410	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	missense	SNP	0.998	T	T	100451410	C	T	100451410	3	4	185	1	0	0	0	0	1	0	0	0	17000	826	29	1	1059	1	UHRF1BP1L	12	100451410	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5753824	100451410	33400485	1026	35301										
SCYL2	55681	genome.wustl.edu	37	chr12	100704857	100704857	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcattcttgcatagcagtgtGaaaatggtgcatggaaatat	10	5	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:100704857G>A	ENST00000360820.2	+	5	953	c.516G>A	c.(514-516)gtG>gtA	p.V172V		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATAGCAGTGTGAAAATGGTGC	0.303																																																	0													100	102	101					12																	100704857		2203	4300	6503	SO:0001819	synonymous_variant	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.516G>A	12.37:g.100704857G>A			A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.V172	ENST00000360820.2	37	c.516	CCDS9076.1	12																																																																																			SCYL2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.303	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	HGNC	protein_coding	OTTHUMT00000408493.2	G	NM_017988		100704857	1	no_errors	ENST00000360820	ensembl	human	known	70_37	silent	SNP	0.994	A	A	100704857	G	A	100704857	2	1	185	1	0	0	0	0	0	0	0	1	13978	1277	45	1		1	SCYL2	12	100704857	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	253447	100704857	33147038	1027	35302										
SLC17A8	246213	genome.wustl.edu	37	chr12	100813924	100813924	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaatgaagagagaaacttctCaactatatcctaatgtctga	7	7	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:100813924C>T	ENST00000323346.5	+	12	2070	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	SLC17A8_ENST00000392989.3_Missense_Mutation_p.S536L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	586					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGAAACTTCTCAACTATATCC	0.438																																																	0													66	59	61					12																	100813924		2203	4300	6503	SO:0001583	missense	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1757C>T	12.37:g.100813924C>T	ENSP00000316909:p.Ser586Leu		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S586L	ENST00000323346.5	37	c.1757	CCDS9077.1	12	.	.	.	.	.	.	.	.	.	.	C	9.893	1.204664	0.22205	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.69806	0.01;-0.43	5.16	4.25	0.50352	.	1.551050	0.03648	N	0.240609	T	0.58878	0.2153	L	0.29908	0.895	0.24686	N	0.993336	B;B	0.25609	0.02;0.13	B;B	0.21917	0.016;0.037	T	0.50634	-0.8805	10	0.72032	D	0.01	.	8.8777	0.35356	0.215:0.6496:0.1353:0.0	.	586;536	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	L	586;536	ENSP00000316909:S586L;ENSP00000376715:S536L	ENSP00000316909:S586L	S	+	2	0	SLC17A8	99338055	1.000000	0.71417	0.120000	0.21714	0.053000	0.15095	1.591000	0.36665	1.285000	0.44548	0.543000	0.68304	TCA	SLC17A8	-	NULL		0.438	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	C	NM_139319		100813924	1	no_errors	ENST00000323346	ensembl	human	known	70_37	missense	SNP	1.000	T	T	100813924	C	T	100813924	3	4	185	1	0	0	0	0	1	0	0	0	14453	838	29	1	1803	1	SLC17A8	12	100813924	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	109067	100813924	33037971	1028	35303										
UTP20	27340	genome.wustl.edu	37	chr12	101711383	101711383	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgatgaagagttggaggaaGaggcagtgccccaagatgaa	15	5	0	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:101711383G>C	ENST00000261637.4	+	22	2854	c.2680G>C	c.(2680-2682)Gag>Cag	p.E894Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	894					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTTGGAGGAAGAGGCAGTGCC	0.498																																																	0													92	87	89					12																	101711383		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2680G>C	12.37:g.101711383G>C	ENSP00000261637:p.Glu894Gln		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E894Q	ENST00000261637.4	37	c.2680	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958949	0.74016	.	.	ENSG00000120800	ENST00000261637	T	0.20738	2.05	5.36	5.36	0.76844	Armadillo-type fold (1);	0.230244	0.44902	D	0.000408	T	0.20251	0.0487	M	0.65975	2.015	0.49130	D	0.999758	B	0.31227	0.314	B	0.25405	0.06	T	0.03068	-1.1076	10	0.26408	T	0.33	-9.5935	9.0379	0.36300	0.0771:0.1492:0.7737:0.0	.	894	O75691	UTP20_HUMAN	Q	894	ENSP00000261637:E894Q	ENSP00000261637:E894Q	E	+	1	0	UTP20	100235514	1.000000	0.71417	0.764000	0.31436	0.623000	0.37688	4.587000	0.60991	2.518000	0.84900	0.591000	0.81541	GAG	UTP20	-	superfamily_ARM-type_fold		0.498	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101711383	1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.895	C	C	101711383	G	C	101711383	3	2	185	1	0	0	0	0	1	0	0	0	17130	943	33	1	2766	1	UTP20	12	101711383	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	897459	101711383	32140512	1029	35304										
GNPTAB	79158	genome.wustl.edu	37	chr12	102183783	102183783	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttccttcagtagttcaagatCtgtgccattcacccaggtgt	8	11	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:102183783C>T	ENST00000299314.7	-	3	518	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GNPTAB_ENST00000549940.1_Missense_Mutation_p.D86N|snoU13_ENST00000459085.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	86					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGTTCAAGATCTGTGCCATTC	0.433																																																	0													226	201	209					12																	102183783		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.256G>A	12.37:g.102183783C>T	ENSP00000299314:p.Asp86Asn		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.D86N	ENST00000299314.7	37	c.256	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.802342	0.96960	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.98987	-5.07;-5.3	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99636	1.0987	10	0.87932	D	0	-25.2806	20.2182	0.98305	0.0:1.0:0.0:0.0	.	86;86	Q3T906-2;Q3T906	.;GNPTA_HUMAN	N	86	ENSP00000299314:D86N;ENSP00000449150:D86N	ENSP00000299314:D86N	D	-	1	0	GNPTAB	100707914	1.000000	0.71417	0.768000	0.31515	0.958000	0.62258	7.412000	0.80091	2.785000	0.95823	0.655000	0.94253	GAT	GNPTAB	-	NULL		0.433	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	C			102183783	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	0.999	T	T	102183783	C	T	102183783	3	4	185	1	0	0	0	0	1	0	0	0	6564	913	32	1	3590	1	GNPTAB	12	102183783	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	472400	102183783	31668112	1030	35305										
HCFC2	29915	genome.wustl.edu	37	chr12	104480731	104480731	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagggctatcttttgcagttGagtacagacttgccatacca	10	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:104480731G>C	ENST00000229330.4	+	8	1274	c.1170G>C	c.(1168-1170)ttG>ttC	p.L390F		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	390	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTTGCAGTTGAGTACAGACT	0.433																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													141	123	129					12																	104480731		2203	4300	6503	SO:0001583	missense	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1170G>C	12.37:g.104480731G>C	ENSP00000229330:p.Leu390Phe		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L390F	ENST00000229330.4	37	c.1170	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259852	0.59321	.	.	ENSG00000111727	ENST00000229330	T	0.54479	0.57	5.43	1.47	0.22746	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.321368	0.28865	N	0.013883	T	0.66963	0.2843	M	0.70595	2.14	0.36336	D	0.859149	D	0.71674	0.998	D	0.83275	0.996	T	0.69453	-0.5141	10	0.49607	T	0.09	-1.9779	10.2822	0.43545	0.3619:0.0:0.6381:0.0	.	390	Q9Y5Z7	HCFC2_HUMAN	F	390	ENSP00000229330:L390F	ENSP00000229330:L390F	L	+	3	2	HCFC2	103004861	1.000000	0.71417	0.945000	0.38365	0.848000	0.48234	2.035000	0.41155	-0.004000	0.14419	0.650000	0.86243	TTG	HCFC2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.433	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	G	NM_013320		104480731	1	no_errors	ENST00000229330	ensembl	human	known	70_37	missense	SNP	0.998	C	C	104480731	G	C	104480731	3	2	185	1	0	0	0	0	1	0	0	0	7013	1281	45	1	1200	1	HCFC2	12	104480731	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2296948	104480731	29371164	1031	35306										
SLC41A2	84102	genome.wustl.edu	37	chr12	105321797	105321797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgaaactgttccaaaaccaGctagcaaaaagggcacaagt	8	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:105321797G>A	ENST00000258538.3	-	1	636	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	170					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TCCAAAACCAGCTAGCAAAAA	0.388																																					Esophageal Squamous(195;176 2919 4272 35572)												0													158	136	144					12																	105321797		2203	4300	6503	SO:0001583	missense	84102			BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"Solute carriers"	31045	protein-coding gene	gene with protein product		610802	"solute carrier family 41, member 2"				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.509C>T	12.37:g.105321797G>A	ENSP00000258538:p.Ala170Val		Q3KP68|Q9H0E5	Missense_Mutation	SNP	pfam_MgtE_Mg_transptr_membr	p.A170V	ENST00000258538.3	37	c.509	CCDS9100.2	12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026462	0.93518	.	.	ENSG00000136052	ENST00000258538	T	0.32023	1.47	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.88377	2.95	0.80722	D	1	P	0.38535	0.635	B	0.32805	0.153	T	0.54675	-0.8258	10	0.62326	D	0.03	-23.44	20.8598	0.99761	0.0:0.0:1.0:0.0	.	170	Q96JW4	S41A2_HUMAN	V	170	ENSP00000258538:A170V	ENSP00000258538:A170V	A	-	2	0	SLC41A2	103845927	1.000000	0.71417	0.948000	0.38648	0.858000	0.48976	8.614000	0.90917	2.937000	0.99478	0.650000	0.86243	GCT	SLC41A2	-	NULL		0.388	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A2	HGNC	protein_coding	OTTHUMT00000346850.3	G	NM_032148		105321797	-1	no_errors	ENST00000258538	ensembl	human	known	70_37	missense	SNP	1.000	A	A	105321797	G	A	105321797	3	1	185	1	0	0	0	0	1	0	0	0	14660	971	34	4	1252	4	SLC41A2	12	105321797	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	841066	105321797	28530098	1032	35307										
ALDH1L2	160428	genome.wustl.edu	37	chr12	105433558	105433558	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttgcggatgtcaggatgttCagacagacgttgtcctgcta	12	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:105433558C>G	ENST00000258494.9	-	17	2118	c.1978G>C	c.(1978-1980)Gaa>Caa	p.E660Q	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	660	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCAGGATGTTCAGACAGACGT	0.453																																																	0													177	162	167					12																	105433558		2203	4300	6503	SO:0001583	missense	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1978G>C	12.37:g.105433558C>G	ENSP00000258494:p.Glu660Gln		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.E660Q	ENST00000258494.9	37	c.1978	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433784	0.43224	.	.	ENSG00000136010	ENST00000258494	T	0.16457	2.34	5.44	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.148678	0.64402	N	0.000012	T	0.10637	0.0260	N	0.13299	0.325	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.10520	-1.0626	10	0.37606	T	0.19	.	11.1064	0.48205	0.0:0.7946:0.1334:0.072	.	660	Q3SY69	AL1L2_HUMAN	Q	660	ENSP00000258494:E660Q	ENSP00000258494:E660Q	E	-	1	0	ALDH1L2	103957688	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.792000	0.62467	1.253000	0.44018	0.460000	0.39030	GAA	ALDH1L2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH		0.453	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	C	XM_090294		105433558	-1	no_errors	ENST00000258494	ensembl	human	known	70_37	missense	SNP	1.000	G	G	105433558	C	G	105433558	3	3	185	1	0	0	0	0	1	0	0	0	495	835	29	1	821	1	ALDH1L2	12	105433558	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	111761	105433558	28418337	1033	35308										
SART3	9733	genome.wustl.edu	37	chr12	108919340	108919340	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacaggagaaaggcaggcctGagatgaacagcttgtgtttc	13	7	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:108919340G>C	ENST00000228284.3	-	17	2651	c.2417C>G	c.(2416-2418)tCa>tGa	p.S806*	FICD_ENST00000546448.1_Intron|SART3_ENST00000431469.2_Nonsense_Mutation_p.S770*	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	806	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGGCAGGCCTGAGATGAACAG	0.498									Porokeratosis																																								0													126	113	118					12																	108919340		2203	4300	6503	SO:0001587	stop_gained	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2417C>G	12.37:g.108919340G>C	ENSP00000228284:p.Ser806*		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.S806*	ENST00000228284.3	37	c.2417	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.556184	0.99204	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000547397	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.2841	18.0194	0.89251	0.0:0.0:1.0:0.0	.	.	.	.	X	806;770;371;45	.	ENSP00000228284:S806X	S	-	2	0	SART3	107443470	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.367000	0.97148	2.703000	0.92315	0.655000	0.94253	TCA	SART3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.498	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	G			108919340	-1	no_errors	ENST00000228284	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	108919340	G	C	108919340	4	2	185	1	0	0	0	0	0	1	0	0	13877	1294	45	1	486	1	SART3	12	108919340	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3485782	108919340	24932555	1034	35309										
ACACB	32	genome.wustl.edu	37	chr12	109634908	109634908	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatgatggggggctcctgctCtcctacaatgggaacagcta	12	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:109634908C>T	ENST00000338432.7	+	17	2696	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	ACACB_ENST00000377854.5_Silent_p.L859L|ACACB_ENST00000377848.3_Silent_p.L859L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	859					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGCTCCTGCTCTCCTACAATG	0.582																																																	0													72	61	65					12																	109634908		2203	4300	6503	SO:0001819	synonymous_variant	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2577C>T	12.37:g.109634908C>T			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.L859	ENST00000338432.7	37	c.2577	CCDS31898.1	12																																																																																			ACACB	-	NULL		0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	C	NM_001093		109634908	1	no_errors	ENST00000338432	ensembl	human	known	70_37	silent	SNP	1.000	T	T	109634908	C	T	109634908	2	4	185	1	0	0	0	0	0	0	0	1	107	900	32	1		1	ACACB	12	109634908	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	715568	109634908	24216987	1035	35310										
KCTD10	83892	genome.wustl.edu	37	chr12	109893940	109893940	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taccttggtctgtttcttctCagtggcatagacgatggagg	12	8	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:109893940C>T	ENST00000228495.6	-	6	987	c.706G>A	c.(706-708)Gag>Aag	p.E236K	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.E55K|KCTD10_ENST00000540089.1_Missense_Mutation_p.E55K|KCTD10_ENST00000540411.1_Missense_Mutation_p.E210K	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	236					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TGTTTCTTCTCAGTGGCATAG	0.468																																																	0													115	102	107					12																	109893940		2203	4300	6503	SO:0001583	missense	83892			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.706G>A	12.37:g.109893940C>T	ENSP00000228495:p.Glu236Lys		Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E236K	ENST00000228495.6	37	c.706	CCDS9128.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.514945	0.96402	.	.	ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402;ENST00000540355	T;T	0.55588	0.6;0.51	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.80847	2.515	0.80722	D	1	D;P;D	0.69078	0.966;0.94;0.997	P;P;D	0.64687	0.852;0.794;0.928	T	0.77528	-0.2554	10	0.87932	D	0	-31.4335	17.0631	0.86552	0.0:1.0:0.0:0.0	.	210;213;236	F5GWA4;Q9H3F6-2;Q9H3F6	.;.;BACD3_HUMAN	K	236;55;78;55;210;55;55;55;55	ENSP00000228495:E236K;ENSP00000441672:E210K	ENSP00000228495:E236K	E	-	1	0	KCTD10	108378323	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	7.651000	0.83577	2.586000	0.87340	0.561000	0.74099	GAG	KCTD10	-	NULL		0.468	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	HGNC	protein_coding	OTTHUMT00000403099.1	C	NM_031954		109893940	-1	no_errors	ENST00000228495	ensembl	human	known	70_37	missense	SNP	1.000	T	T	109893940	C	T	109893940	3	4	185	1	0	0	0	0	1	0	0	0	8117	835	29	1	243	1	KCTD10	12	109893940	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	259032	109893940	23957955	1036	35311										
MVK	4598	genome.wustl.edu	37	chr12	110013877	110013877	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcaatgggaaagtggacctCagcttacccaacattggtat	10	9	1	0	rs104895327		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:110013877C>G	ENST00000228510.3	+	3	229	c.153C>G	c.(151-153)ctC>ctG	p.L51L	MVK_ENST00000541384.1_5'UTR|MMAB_ENST00000540016.1_5'Flank|MVK_ENST00000392727.3_Silent_p.L51L|MVK_ENST00000535044.1_3'UTR|MMAB_ENST00000545712.2_5'Flank|MMAB_ENST00000266839.5_5'Flank|MVK_ENST00000539575.1_Silent_p.L51L|MVK_ENST00000539696.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	51					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AAGTGGACCTCAGCTTACCCA	0.498																																																	0													87	77	81					12																	110013877		2203	4300	6503	SO:0001819	synonymous_variant	4598			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.153C>G	12.37:g.110013877C>G				Silent	SNP	pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin	p.L51	ENST00000228510.3	37	c.153	CCDS9132.1	12																																																																																			MVK	-	superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Mev_gal_kin		0.498	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	HGNC	protein_coding	OTTHUMT00000403143.1	C	NM_000431		110013877	1	no_errors	ENST00000228510	ensembl	human	known	70_37	silent	SNP	0.844	G	G	110013877	C	G	110013877	2	3	185	1	0	0	0	0	0	0	0	1	10018	813	29	1		1	MVK	12	110013877	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	119937	110013877	23838018	1037	35312										
TRPV4	59341	genome.wustl.edu	37	chr12	110236473	110236473	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcgagaggccgtcgttgttGagcacggcctccaggttgct	16	11	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:110236473G>A	ENST00000418703.2	-	5	1192	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	TRPV4_ENST00000392719.2_Silent_p.L319L|TRPV4_ENST00000541794.1_Silent_p.L319L|TRPV4_ENST00000537083.1_Silent_p.L366L|TRPV4_ENST00000346520.2_Silent_p.L366L|TRPV4_ENST00000261740.2_Silent_p.L366L|TRPV4_ENST00000536838.1_Silent_p.L332L|TRPV4_ENST00000544971.1_Silent_p.L319L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	366					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGTCGTTGTTGAGCACGGCCT	0.602																																																	0													81	65	70					12																	110236473		2203	4300	6503	SO:0001819	synonymous_variant	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1098C>T	12.37:g.110236473G>A			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.L366	ENST00000418703.2	37	c.1098	CCDS9134.1	12																																																																																			TRPV4	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV4_channel,tigrfam_TRP_channel		0.602	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	G	NM_021625		110236473	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	silent	SNP	1.000	A	A	110236473	G	A	110236473	2	1	185	1	0	0	0	0	0	0	0	1	16629	1277	45	1		1	TRPV4	12	110236473	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	222596	110236473	23615422	1038	35313										
GIT2	9815	genome.wustl.edu	37	chr12	110370926	110370926	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggagggtcttcttgcactCtgactgcagtcggtaggcac	14	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:110370926C>T	ENST00000355312.3	-	20	2136	c.2137G>A	c.(2137-2139)Gag>Aag	p.E713K	GIT2_ENST00000551209.1_Missense_Mutation_p.E662K|GIT2_ENST00000360185.4_Missense_Mutation_p.E663K|GIT2_ENST00000354574.4_Missense_Mutation_p.E635K|GIT2_ENST00000343646.5_Missense_Mutation_p.E603K|GIT2_ENST00000553118.1_Missense_Mutation_p.E585K|GIT2_ENST00000361006.5_Missense_Mutation_p.E683K|GIT2_ENST00000338373.5_Missense_Mutation_p.E615K|GIT2_ENST00000548655.1_5'Flank|GIT2_ENST00000356259.4_Missense_Mutation_p.E600K|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.E635K	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	713					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ttcttgcactctgactgcagt	0.557																																																	0													81	66	71					12																	110370926		2203	4300	6503	SO:0001583	missense	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.2137G>A	12.37:g.110370926C>T	ENSP00000347464:p.Glu713Lys		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.E713K	ENST00000355312.3	37	c.2137	CCDS9138.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.545580	0.96488	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000552978;ENST00000546613;ENST00000548000	T;T;T;T;T;T;T;T;T;T	0.77358	-0.95;-1.06;-0.88;-0.85;-1.03;-0.8;-0.85;-0.94;-0.96;-1.09	5.53	5.53	0.82687	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.000000	0.85682	D	0.000000	D	0.88976	0.6584	M	0.82630	2.6	0.46260	D	0.998952	D;D;D;D;P	0.71674	0.981;0.981;0.998;0.985;0.912	D;D;D;D;P	0.83275	0.943;0.958;0.996;0.975;0.827	D	0.88177	0.2868	10	0.39692	T	0.17	.	18.4469	0.90688	0.0:1.0:0.0:0.0	.	635;635;585;713;683	Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;GIT2_HUMAN;.	K	713;663;635;615;603;600;635;683;585;662;99;99;115	ENSP00000347464:E713K;ENSP00000353312:E663K;ENSP00000346585:E635K;ENSP00000340342:E615K;ENSP00000340938:E603K;ENSP00000348595:E600K;ENSP00000391813:E635K;ENSP00000354282:E683K;ENSP00000447465:E585K;ENSP00000448832:E662K	ENSP00000340342:E615K	E	-	1	0	GIT2	108855309	1.000000	0.71417	0.985000	0.45067	0.673000	0.39480	6.003000	0.70701	2.593000	0.87608	0.455000	0.32223	GAG	GIT2	-	pfam_GIT1_C		0.557	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIT2	HGNC	protein_coding	OTTHUMT00000403407.1	C	NM_057169		110370926	-1	no_errors	ENST00000355312	ensembl	human	known	70_37	missense	SNP	1.000	T	T	110370926	C	T	110370926	3	4	185	1	0	0	0	0	1	0	0	0	6416	922	32	1	146	1	GIT2	12	110370926	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	134453	110370926	23480969	1039	35314										
RASAL1	8437	genome.wustl.edu	37	chr12	113537812	113537812	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggcacgatccaggtctgcGagcacctccagcaggcgggc	15	14	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:113537812G>A	ENST00000261729.5	-	22	2652	c.2337C>T	c.(2335-2337)ctC>ctT	p.L779L	RASAL1_ENST00000548055.1_Silent_p.L780L|RASAL1_ENST00000546530.1_Silent_p.L781L|RASAL1_ENST00000446861.3_Silent_p.L751L			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	779					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCAGGTCTGCGAGCACCTCCA	0.677																																																	0													30	35	33					12																	113537812		2203	4300	6503	SO:0001819	synonymous_variant	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2337C>T	12.37:g.113537812G>A			B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.L781	ENST00000261729.5	37	c.2343	CCDS9165.1	12																																																																																			RASAL1	-	NULL		0.677	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	G	NM_004658		113537812	-1	no_errors	ENST00000546530	ensembl	human	known	70_37	silent	SNP	0.000	A	A	113537812	G	A	113537812	2	1	185	1	0	0	0	0	0	0	0	1	13093	1045	37	1		1	RASAL1	12	113537812	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3166886	113537812	20314083	1040	35315										
RASAL1	8437	genome.wustl.edu	37	chr12	113553053	113553053	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccagggagttagaacggaaGagggtgttggggtccactgg	19	6	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:113553053G>A	ENST00000261729.5	-	12	1335	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	RASAL1_ENST00000548055.1_Silent_p.L340L|RASAL1_ENST00000546530.1_Silent_p.L340L|RASAL1_ENST00000446861.3_Silent_p.L340L|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	340	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TAGAACGGAAGAGGGTGTTGG	0.567																																																	0													186	191	189					12																	113553053		2203	4300	6503	SO:0001819	synonymous_variant	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1020C>T	12.37:g.113553053G>A			B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.L340	ENST00000261729.5	37	c.1020	CCDS9165.1	12																																																																																			RASAL1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.567	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	G	NM_004658		113553053	-1	no_errors	ENST00000546530	ensembl	human	known	70_37	silent	SNP	1.000	A	A	113553053	G	A	113553053	2	1	185	1	0	0	0	0	0	0	0	1	13093	929	33	1		1	RASAL1	12	113553053	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	15241	113553053	20298842	1041	35316										
FBXO21	23014	genome.wustl.edu	37	chr12	117584046	117584046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcgtcccacgtcagggtgtGagatttcttgaggctccacg	13	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:117584046G>A	ENST00000330622.5	-	12	1732	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	FBXO21_ENST00000427718.2_Missense_Mutation_p.S571L			O94952	FBX21_HUMAN	F-box protein 21	578					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTCAGGGTGTGAGATTTCTTG	0.478																																					GBM(168;452 2038 13535 17701 43680)												0													128	118	122					12																	117584046		2203	4300	6503	SO:0001583	missense	23014			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1733C>T	12.37:g.117584046G>A	ENSP00000328187:p.Ser578Leu		B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.S578L	ENST00000330622.5	37	c.1733	CCDS9184.1	12	.	.	.	.	.	.	.	.	.	.	G	15.79	2.935953	0.52972	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.43688	0.95;0.94	5.39	5.39	0.77823	Hemimethylated DNA-binding domain (2);	0.230075	0.39475	N	0.001344	T	0.28001	0.0690	N	0.24115	0.695	0.35062	D	0.761682	P;B;B	0.36392	0.551;0.224;0.257	B;B;B	0.34652	0.187;0.171;0.074	T	0.29610	-1.0006	10	0.12103	T	0.63	-25.8567	14.7322	0.69391	0.0:0.1443:0.8557:0.0	.	427;578;571	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	L	571;487;427;578	ENSP00000414468:S571L;ENSP00000328187:S578L	ENSP00000257563:S487L	S	-	2	0	FBXO21	116068429	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	4.529000	0.60588	2.521000	0.84997	0.561000	0.74099	TCA	FBXO21	-	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,tigrfam_Hemimethylated_DNA-bd_dom		0.478	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	G	NM_033624		117584046	-1	no_errors	ENST00000330622	ensembl	human	known	70_37	missense	SNP	0.987	A	A	117584046	G	A	117584046	3	1	185	1	0	0	0	0	1	0	0	0	5751	1294	45	1	157	1	FBXO21	12	117584046	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4030993	117584046	16267849	1042	35317										
SRRM4	84530	genome.wustl.edu	37	chr12	119540159	119540159	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggagagagacaagacctgtCgggaactgggtgccaccaga	16	9	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:119540159C>G	ENST00000267260.4	+	2	638	c.250C>G	c.(250-252)Cgg>Ggg	p.R84G	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	84					cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAAGACCTGTCGGGAACTGGG	0.567																																																	0													39	42	41					12																	119540159		1933	4143	6076	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.250C>G	12.37:g.119540159C>G	ENSP00000267260:p.Arg84Gly		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NULL	p.R84G	ENST00000267260.4	37	c.250	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040202	0.35989	.	.	ENSG00000139767	ENST00000267260	T	0.25749	1.78	4.83	1.62	0.23740	.	0.419860	0.21470	N	0.074016	T	0.21590	0.0520	L	0.50333	1.59	0.34482	D	0.704024	B	0.23185	0.081	B	0.26693	0.072	T	0.13953	-1.0490	10	0.72032	D	0.01	-0.2645	5.828	0.18564	0.4298:0.477:0.0:0.0932	.	84	A7MD48	SRRM4_HUMAN	G	84	ENSP00000267260:R84G	ENSP00000267260:R84G	R	+	1	2	SRRM4	118024542	1.000000	0.71417	0.995000	0.50966	0.718000	0.41266	0.687000	0.25407	0.189000	0.20188	0.655000	0.94253	CGG	SRRM4	-	NULL		0.567	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	C	NM_194286		119540159	1	no_errors	ENST00000267260	ensembl	human	known	70_37	missense	SNP	0.997	G	G	119540159	C	G	119540159	3	3	185	1	0	0	0	0	1	0	0	0	15201	875	31	1	256	1	SRRM4	12	119540159	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1956113	119540159	14311736	1043	35318										
CIT	11113	genome.wustl.edu	37	chr12	120260769	120260769	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttggggtcatctggaaatttCaaaaaccgctgttccaaaaa	8	8	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:120260769C>G	ENST00000261833.7	-	9	1018	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CIT_ENST00000392521.2_Missense_Mutation_p.L322F	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGGAAATTTCAAAAACCGCT	0.383																																																	0													52	53	53					12																	120260769		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.966G>C	12.37:g.120260769C>G	ENSP00000261833:p.Leu322Phe		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L322F	ENST00000261833.7	37	c.966	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964419	0.34659	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.39787	1.06;1.06	5.86	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000019	T	0.46171	0.1379	L	0.28608	0.87	0.58432	D	0.999992	P;D	0.71674	0.858;0.998	P;D	0.72338	0.761;0.977	T	0.32745	-0.9895	10	0.10377	T	0.69	.	11.0714	0.48006	0.0:0.8586:0.0:0.1414	.	322;322	Q2M5E1;O14578	.;CTRO_HUMAN	F	322	ENSP00000376306:L322F;ENSP00000261833:L322F	ENSP00000261833:L322F	L	-	3	2	CIT	118745152	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.146000	0.31589	1.483000	0.48342	0.655000	0.94253	TTG	CIT	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_cat_dom		0.383	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	C	NM_007174		120260769	-1	no_errors	ENST00000261833	ensembl	human	known	70_37	missense	SNP	1.000	G	G	120260769	C	G	120260769	3	3	185	1	0	0	0	0	1	0	0	0	3443	825	29	1	5273	1	CIT	12	120260769	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	720610	120260769	13591126	1044	35319										
RPLP0	6175	genome.wustl.edu	37	chr12	120634585	120634585	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttttggtgattagtcaaaGagaccaaatcccatatcctc	6	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:120634585G>C	ENST00000551150.1	-	7	1260	c.945C>G	c.(943-945)ctC>ctG	p.L315L	RPLP0_ENST00000392514.4_Silent_p.L315L|RPLP0_ENST00000313104.5_Silent_p.L253L|RPLP0_ENST00000228306.4_Silent_p.L315L|RPLP0_ENST00000546989.1_Silent_p.L279L|RPLP0_ENST00000552292.1_Silent_p.L105L|RPLP0_ENST00000550296.1_5'Flank|GCN1L1_ENST00000300648.6_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	315					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATTAGTCAAAGAGACCAAATC	0.453																																																	0													34	38	36					12																	120634585		2201	4296	6497	SO:0001819	synonymous_variant	6175			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.945C>G	12.37:g.120634585G>C			Q3B7A4|Q9BVK4	Silent	SNP	pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S	p.L315	ENST00000551150.1	37	c.945	CCDS9193.1	12																																																																																			RPLP0	-	pfam_Ribosomal_60S		0.453	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	G	NM_053275		120634585	-1	no_errors	ENST00000228306	ensembl	human	known	70_37	silent	SNP	0.995	C	C	120634585	G	C	120634585	2	2	185	1	0	0	0	0	0	0	0	1	13634	929	33	1		1	RPLP0	12	120634585	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	373816	120634585	13217310	1045	35320										
SIRT4	23409	genome.wustl.edu	37	chr12	120750316	120750316	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggggtgctgcaagagcgtttCcaagtcctgaaccccacctg	12	13	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:120750316C>G	ENST00000202967.4	+	3	614	c.555C>G	c.(553-555)ttC>ttG	p.F185L	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_Intron	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAGCGTTTCCAAGTCCTGA	0.587																																																	0													77	80	79					12																	120750316		2203	4300	6503	SO:0001583	missense	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.555C>G	12.37:g.120750316C>G	ENSP00000202967:p.Phe185Leu			Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.F185L	ENST00000202967.4	37	c.555	CCDS9194.1	12	.	.	.	.	.	.	.	.	.	.	C	2.117	-0.402292	0.04865	.	.	ENSG00000089163	ENST00000202967	T	0.38887	1.11	4.41	-4.3	0.03710	.	0.149506	0.64402	D	0.000011	T	0.07683	0.0193	N	0.00504	-1.425	0.29889	N	0.825387	B	0.06786	0.001	B	0.09377	0.004	T	0.38950	-0.9637	10	0.02654	T	1	-10.4366	6.1071	0.20079	0.0:0.4211:0.2707:0.3082	.	185	Q9Y6E7	SIRT4_HUMAN	L	185	ENSP00000202967:F185L	ENSP00000202967:F185L	F	+	3	2	SIRT4	119234699	0.154000	0.22792	0.002000	0.10522	0.920000	0.55202	0.144000	0.16135	-0.492000	0.06687	0.585000	0.79938	TTC	SIRT4	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom		0.587	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	C	NM_012240		120750316	1	no_errors	ENST00000202967	ensembl	human	known	70_37	missense	SNP	0.015	G	G	120750316	C	G	120750316	3	3	185	1	0	0	0	0	1	0	0	0	14370	854	30	1	561	1	SIRT4	12	120750316	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	115731	120750316	13101579	1046	35321										
SIRT4	23409	genome.wustl.edu	37	chr12	120750384	120750384	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgatggtgacgtctttctctCagaggagcaagtccggagct	13	9	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:120750384C>T	ENST00000202967.4	+	3	682	c.623C>T	c.(622-624)tCa>tTa	p.S208L	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_Intron	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCTTTCTCTCAGAGGAGCAA	0.582																																																	0													61	58	59					12																	120750384		2203	4300	6503	SO:0001583	missense	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.623C>T	12.37:g.120750384C>T	ENSP00000202967:p.Ser208Leu			Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.S208L	ENST00000202967.4	37	c.623	CCDS9194.1	12	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088171	0.55968	.	.	ENSG00000089163	ENST00000202967	T	0.15372	2.43	4.5	4.5	0.54988	.	0.275088	0.41396	D	0.000896	T	0.17874	0.0429	L	0.39326	1.205	0.26217	N	0.979214	B	0.14438	0.01	B	0.18561	0.022	T	0.10543	-1.0625	10	0.42905	T	0.14	-9.6234	18.1323	0.89605	0.0:1.0:0.0:0.0	.	208	Q9Y6E7	SIRT4_HUMAN	L	208	ENSP00000202967:S208L	ENSP00000202967:S208L	S	+	2	0	SIRT4	119234767	1.000000	0.71417	0.901000	0.35422	0.968000	0.65278	5.649000	0.67936	2.442000	0.82660	0.585000	0.79938	TCA	SIRT4	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom		0.582	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	C	NM_012240		120750384	1	no_errors	ENST00000202967	ensembl	human	known	70_37	missense	SNP	0.995	T	T	120750384	C	T	120750384	3	4	185	1	0	0	0	0	1	0	0	0	14370	838	29	1	629	1	SIRT4	12	120750384	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	68	120750384	13101511	1047	35322										
CABP1	9478	genome.wustl.edu	37	chr12	121093965	121093965	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggggctggcggctgacgccGagctcccgggaccgctcctg	17	15	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:121093965G>A	ENST00000316803.3	+	2	788				CABP1_ENST00000351200.2_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.E39K|CABP1_ENST00000453000.1_Missense_Mutation_p.E118K	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCTGACGCCGAGCTCCCGGG	0.617																																																	0													30	32	32					12																	121093965		2203	4300	6503	SO:0001627	intron_variant	9478			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3716G>A	12.37:g.121093965G>A			O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E39K	ENST00000316803.3	37	c.115	CCDS31913.1	12	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929962	0.34096	.	.	ENSG00000157782	ENST00000288616;ENST00000453000	T;T	0.72051	-0.53;-0.62	5.82	5.82	0.92795	.	.	.	.	.	T	0.58750	0.2144	N	0.14661	0.345	0.26888	N	0.967396	B;B	0.23540	0.07;0.087	B;B	0.16722	0.006;0.016	T	0.54569	-0.8274	9	0.52906	T	0.07	.	18.2696	0.90064	0.0:0.0:1.0:0.0	.	118;39	C9J8G2;Q9NZU7-1	.;.	K	39;118	ENSP00000288616:E39K;ENSP00000398959:E118K	ENSP00000288616:E39K	E	+	1	0	CABP1	119578348	1.000000	0.71417	0.965000	0.40720	0.339000	0.28857	4.046000	0.57376	2.765000	0.95021	0.591000	0.81541	GAG	CABP1	-	NULL		0.617	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	G	NM_001033677		121093965	1	no_errors	ENST00000288616	ensembl	human	known	70_37	missense	SNP	0.997	A	A	121093965	G	A	121093965	1	1	185	0	1	0	0	0	0	0	0	0	2536	1059	37	1		1	CABP1	12	121093965	Intron	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	343581	121093965	12757930	1048	35323										
OASL	8638	genome.wustl.edu	37	chr12	121471367	121471367	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggactctctgctccatcctCaggtcctcgagcccgaggtc	11	16	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:121471367C>G	ENST00000257570.5	-	2	648	c.378G>C	c.(376-378)ctG>ctC	p.L126L	OASL_ENST00000339275.5_Silent_p.L126L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	126					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTCCATCCTCAGGTCCTCGA	0.592																																					Colon(192;517 2041 31392 31913 39966)												0													119	102	108					12																	121471367		2203	4300	6503	SO:0001819	synonymous_variant	8638			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.378G>C	12.37:g.121471367C>G			B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.L126	ENST00000257570.5	37	c.378	CCDS9211.1	12																																																																																			OASL	-	NULL		0.592	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	C	NM_003733		121471367	-1	no_errors	ENST00000257570	ensembl	human	known	70_37	silent	SNP	0.000	G	G	121471367	C	G	121471367	2	3	185	1	0	0	0	0	0	0	0	1	10826	813	29	1		1	OASL	12	121471367	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	377402	121471367	12380528	1049	35324										
ANAPC5	51433	genome.wustl.edu	37	chr12	121757584	121757584	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atttgccatcattcattgctCtgtcaaactgtattttttga	5	8	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:121757584C>G	ENST00000261819.3	-	13	1674	c.1553G>C	c.(1552-1554)aGa>aCa	p.R518T	ANAPC5_ENST00000541887.1_Missense_Mutation_p.R505T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R406T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R406T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.R184T|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	518					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTCATTGCTCTGTCAAACTG	0.328																																																	0													81	73	75					12																	121757584		2203	4298	6501	SO:0001583	missense	51433			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1553G>C	12.37:g.121757584C>G	ENSP00000261819:p.Arg518Thr		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	smart_TPR_repeat	p.R518T	ENST00000261819.3	37	c.1553	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712448	0.68730	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.24	4.35	0.52113	.	0.048021	0.85682	D	0.000000	T	0.64549	0.2608	L	0.53249	1.67	0.80722	D	1	B;B;D;P	0.60160	0.449;0.277;0.987;0.624	B;B;P;B	0.54544	0.265;0.175;0.755;0.162	T	0.68625	-0.5359	9	0.87932	D	0	.	13.0122	0.58737	0.0:0.9221:0.0:0.0779	.	184;120;406;518	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	T	406;505;518;184;120;406	.	ENSP00000261819:R518T	R	-	2	0	ANAPC5	120241967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.516000	0.53436	1.338000	0.45544	0.563000	0.77884	AGA	ANAPC5	-	NULL		0.328	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	C			121757584	-1	no_errors	ENST00000261819	ensembl	human	known	70_37	missense	SNP	1.000	G	G	121757584	C	G	121757584	3	3	185	1	0	0	0	0	1	0	0	0	605	913	32	1	734	1	ANAPC5	12	121757584	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	286217	121757584	12094311	1050	35325										
CLIP1	6249	genome.wustl.edu	37	chr12	122763443	122763443	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actctagagtctgaacaactGaatgcaaggacttggcagag	11	8	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:122763443G>C	ENST00000540338.1	-	22	3853	c.3812C>G	c.(3811-3813)tCa>tGa	p.S1271*	CLIP1_ENST00000361654.4_Nonsense_Mutation_p.S1149*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.S846*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.S1225*|CLIP1_ENST00000540539.1_5'Flank|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.S1260*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.S1260*|CLIP1_ENST00000536634.1_5'UTR			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1271					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGAACAACTGAATGCAAGGA	0.493																																																	0													71	65	67					12																	122763443		2203	4300	6503	SO:0001587	stop_gained	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3812C>G	12.37:g.122763443G>C	ENSP00000439093:p.Ser1271*		A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.S1271*	ENST00000540338.1	37	c.3812	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.851717	0.99477	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	.	.	.	6.17	6.17	0.99709	.	0.252183	0.33438	N	0.004901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-3.136	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	846;1260;1260;990;302;1225;1271	.	ENSP00000303585:S1260X	S	-	2	0	CLIP1	121329396	0.997000	0.39634	0.760000	0.31359	0.998000	0.95712	3.364000	0.52328	2.941000	0.99782	0.655000	0.94253	TCA	CLIP1	-	NULL		0.493	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	G	NM_002956		122763443	-1	no_errors	ENST00000540338	ensembl	human	known	70_37	nonsense	SNP	0.695	C	C	122763443	G	C	122763443	4	2	185	1	0	0	0	0	0	1	0	0	3537	1294	45	1	520	1	CLIP1	12	122763443	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1005859	122763443	11088452	1051	35326										
ZCCHC8	55596	genome.wustl.edu	37	chr12	122958743	122958743	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtggaggagttccccggggGagtggaggagtgtcaggagg	23	5	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:122958743G>C	ENST00000336229.4	-	14	1555	c.1425C>G	c.(1423-1425)ctC>ctG	p.L475L	ZCCHC8_ENST00000538116.1_Silent_p.L86L|ZCCHC8_ENST00000536306.1_Silent_p.L237L|ZCCHC8_ENST00000543897.1_Silent_p.L237L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	475	Pro-rich.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTCCCCGGGGGAGTGGAGGAG	0.552																																																	0													57	63	61					12																	122958743		2068	4216	6284	SO:0001819	synonymous_variant	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1425C>G	12.37:g.122958743G>C			Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.L475	ENST00000336229.4	37	c.1425		12																																																																																			ZCCHC8	-	NULL		0.552	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		G	NM_017612		122958743	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	silent	SNP	0.198	C	C	122958743	G	C	122958743	2	2	185	1	0	0	0	0	0	0	0	1	17624	1161	41	1		1	ZCCHC8	12	122958743	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	195300	122958743	10893152	1052	35327										
ZCCHC8	55596	genome.wustl.edu	37	chr12	122958781	122958781	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggtaatggtggttgaaactGaaaactttcgctgctctgag	12	6	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:122958781G>C	ENST00000336229.4	-	14	1517	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q74E|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q225E|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.Q225E	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	463					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GGTTGAAACTGAAAACTTTCG	0.483																																																	0													62	67	65					12																	122958781		2028	4194	6222	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1387C>G	12.37:g.122958781G>C	ENSP00000337313:p.Gln463Glu		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.Q463E	ENST00000336229.4	37	c.1387		12	.	.	.	.	.	.	.	.	.	.	G	8.558	0.877038	0.17395	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.48522	0.87;0.87;0.86;0.81	5.96	3.99	0.46301	.	0.525243	0.23316	N	0.049510	T	0.38401	0.1039	L	0.52364	1.645	0.38692	D	0.952785	B	0.09022	0.002	B	0.04013	0.001	T	0.25813	-1.0121	10	0.16896	T	0.51	0.2624	10.4788	0.44680	0.0:0.1299:0.6013:0.2688	.	463	Q6NZY4	ZCHC8_HUMAN	E	225;225;463;74;74	ENSP00000441423:Q225E;ENSP00000438993:Q225E;ENSP00000337313:Q463E;ENSP00000440028:Q74E	ENSP00000337313:Q463E	Q	-	1	0	ZCCHC8	121524734	1.000000	0.71417	0.016000	0.15963	0.264000	0.26372	2.223000	0.42936	1.468000	0.48064	0.650000	0.86243	CAG	ZCCHC8	-	NULL		0.483	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		G	NM_017612		122958781	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	missense	SNP	0.997	C	C	122958781	G	C	122958781	3	2	185	1	0	0	0	0	1	0	0	0	17624	1299	45	1	740	1	ZCCHC8	12	122958781	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	38	122958781	10893114	1053	35328										
SETD8	387893	genome.wustl.edu	37	chr12	123875255	123875255	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggaatgcgtttcccccttCaggaagagaactcagttaca	9	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:123875255C>T	ENST00000402868.3	+	3	637	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	SETD8_ENST00000330479.4_Nonsense_Mutation_p.Q71*|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	112					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TTTCCCCCTTCAGGAAGAGAA	0.448																																																	0													110	104	106					12																	123875255		2203	4300	6503	SO:0001587	stop_gained	387893			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.211C>T	12.37:g.123875255C>T	ENSP00000384629:p.Gln71*		A8K9D0|Q86W83|Q8TD09	Nonsense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.Q71*	ENST00000402868.3	37	c.211	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.545978	0.96488	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	.	.	.	5.29	5.29	0.74685	.	0.063746	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-29.9282	18.5385	0.91019	0.0:1.0:0.0:0.0	.	.	.	.	X	71;71;62	.	ENSP00000332995:Q71X	Q	+	1	0	SETD8	122441208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.700000	0.61803	2.474000	0.83562	0.561000	0.74099	CAG	SETD8	-	pirsf_Hist_H4-K20_MeTrfase		0.448	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	C	NM_020382		123875255	1	no_errors	ENST00000330479	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	123875255	C	T	123875255	4	4	185	1	0	0	0	0	0	1	0	0	14167	827	29	1	221	1	SETD8	12	123875255	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	916474	123875255	9976640	1054	35329										
DNAH10	196385	genome.wustl.edu	37	chr12	124371818	124371818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcacggatgcccatgtggctGaggagggcttcctggagctc	15	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:124371818G>A	ENST00000409039.3	+	51	8624	c.8599G>A	c.(8599-8601)Gag>Aag	p.E2867K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2867	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCATGTGGCTGAGGAGGGCTT	0.542																																																	0													46	48	47					12																	124371818		1994	4162	6156	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8599G>A	12.37:g.124371818G>A	ENSP00000386770:p.Glu2867Lys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.E2867K	ENST00000409039.3	37	c.8599	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	36	5.613082	0.96637	.	.	ENSG00000197653	ENST00000409039	T	0.39997	1.05	5.02	5.02	0.67125	Dynein heavy chain, P-loop containing D4 domain (1);	0.076926	0.52532	U	0.000078	T	0.60907	0.2305	M	0.64676	1.99	0.80722	D	1	D	0.56746	0.977	P	0.62560	0.904	T	0.62383	-0.6866	10	0.56958	D	0.05	.	18.511	0.90916	0.0:0.0:1.0:0.0	.	2867	Q8IVF4	DYH10_HUMAN	K	2867	ENSP00000386770:E2867K	ENSP00000386770:E2867K	E	+	1	0	DNAH10	122937771	1.000000	0.71417	0.964000	0.40570	0.896000	0.52359	9.657000	0.98554	2.602000	0.87976	0.591000	0.81541	GAG	DNAH10	-	NULL		0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124371818	1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124371818	G	A	124371818	3	1	185	1	0	0	0	0	1	0	0	0	4608	1291	45	1	8801	1	DNAH10	12	124371818	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	496563	124371818	9480077	1055	35330										
AACS	65985	genome.wustl.edu	37	chr12	125587612	125587612	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagagagaacatagacctttCaaagattccaaacaggtaat	7	8	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:125587612C>G	ENST00000316519.6	+	7	958	c.752C>G	c.(751-753)tCa>tGa	p.S251*	AACS_ENST00000261686.6_Nonsense_Mutation_p.S251*|AACS_ENST00000316543.10_5'Flank	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	251					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATAGACCTTTCAAAGATTCCA	0.507																																																	0													156	158	157					12																	125587612		2203	4300	6503	SO:0001587	stop_gained	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.752C>G	12.37:g.125587612C>G	ENSP00000324842:p.Ser251*		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth	p.S251*	ENST00000316519.6	37	c.752	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731260	0.89390	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537477;ENST00000537564;ENST00000441247	.	.	.	5.32	4.42	0.53409	.	0.052421	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	14.0444	0.64695	0.0:0.9249:0.0:0.0751	.	.	.	.	X	251;251;107;82;32;70	.	ENSP00000261686:S251X	S	+	2	0	AACS	124153565	1.000000	0.71417	0.222000	0.23844	0.025000	0.11179	5.138000	0.64795	2.470000	0.83445	0.555000	0.69702	TCA	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth		0.507	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	C	NM_023928		125587612	1	no_errors	ENST00000316519	ensembl	human	known	70_37	nonsense	SNP	0.998	G	G	125587612	C	G	125587612	4	3	185	1	0	0	0	0	0	1	0	0	9	838	29	1	778	1	AACS	12	125587612	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1215794	125587612	8264283	1056	35331										
GLT1D1	144423	genome.wustl.edu	37	chr12	129360521	129360521	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcctttgactttgaaagccGatctgagattgcaaacctca	8	10	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:129360521G>C	ENST00000442111.2	+	2	219	c.131G>C	c.(130-132)cGa>cCa	p.R44P	GLT1D1_ENST00000281703.6_Missense_Mutation_p.R44P|GLT1D1_ENST00000537468.1_Missense_Mutation_p.R33P|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	44					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGAAAGCCGATCTGAGATT	0.488																																																	0													164	165	164					12																	129360521		2203	4300	6503	SO:0001583	missense	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.131G>C	12.37:g.129360521G>C	ENSP00000394692:p.Arg44Pro		Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.R44P	ENST00000442111.2	37	c.131		12	.	.	.	.	.	.	.	.	.	.	C	2.069	-0.413499	0.04799	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.79554	-1.28;1.03;0.97	5.54	4.64	0.57946	.	0.426948	0.25817	N	0.028105	T	0.46698	0.1406	N	0.00289	-1.7	0.25293	N	0.989345	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41963	-0.9479	10	0.20519	T	0.43	-2.0878	10.9997	0.47598	0.1464:0.7132:0.1404:0.0	.	33;44	F5H088;Q96MS3-2	.;.	P	44;44;33	ENSP00000394692:R44P;ENSP00000281703:R44P;ENSP00000438158:R33P	ENSP00000281703:R44P	R	+	2	0	GLT1D1	127926474	0.036000	0.19791	0.041000	0.18516	0.186000	0.23388	1.054000	0.30455	0.680000	0.31366	-0.120000	0.15030	CGA	GLT1D1	-	NULL		0.488	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	G	NM_144669		129360521	1	no_errors	ENST00000442111	ensembl	human	known	70_37	missense	SNP	0.090	C	C	129360521	G	C	129360521	3	2	185	1	0	0	0	0	1	0	0	0	6484	1058	37	1	137	1	GLT1D1	12	129360521	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3772909	129360521	4491374	1057	35332										
GOLGA3	2802	genome.wustl.edu	37	chr12	133365775	133365775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acttgcatcagctcctgccgCagctccttcagctccgagtc	8	17	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:133365775C>T	ENST00000450791.2	-	12	2832	c.2649G>A	c.(2647-2649)ctG>ctA	p.L883L	GOLGA3_ENST00000204726.3_Silent_p.L883L|GOLGA3_ENST00000545875.1_Silent_p.L883L|GOLGA3_ENST00000537452.1_Silent_p.L883L|GOLGA3_ENST00000456883.2_Silent_p.L883L			Q08378	GOGA3_HUMAN	golgin A3	883					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTCCTGCCGCAGCTCCTTCA	0.652																																																	0													51	46	48					12																	133365775		2203	4300	6503	SO:0001819	synonymous_variant	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2649G>A	12.37:g.133365775C>T			A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	superfamily_Prefoldin	p.L883	ENST00000450791.2	37	c.2649	CCDS9281.1	12																																																																																			GOLGA3	-	superfamily_Prefoldin		0.652	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133365775	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	silent	SNP	1.000	T	T	133365775	C	T	133365775	2	4	185	1	0	0	0	0	0	0	0	1	6573	697	25	4		4	GOLGA3	12	133365775	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4005254	133365775	486120	1058	35333										
GOLGA3	2802	genome.wustl.edu	37	chr12	133383849	133383849	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagcatctcctcctgtgtttCtgctgcagagctctccaagg	9	14	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr12:133383849C>G	ENST00000450791.2	-	5	1387	c.1204G>C	c.(1204-1206)Gaa>Caa	p.E402Q	GOLGA3_ENST00000204726.3_Missense_Mutation_p.E402Q|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E402Q|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E402Q|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E402Q			Q08378	GOGA3_HUMAN	golgin A3	402					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCTGTGTTTCTGCTGCAGAG	0.547																																																	0													61	40	47					12																	133383849		2202	4298	6500	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1204G>C	12.37:g.133383849C>G	ENSP00000410378:p.Glu402Gln		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E402Q	ENST00000450791.2	37	c.1204	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736736	0.69304	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.33	5.33	0.75918	.	0.091723	0.85682	D	0.000000	D	0.83599	0.5289	L	0.57536	1.79	0.80722	D	1	D;D;D	0.65815	0.986;0.986;0.995	P;P;P	0.59703	0.709;0.709;0.862	T	0.79424	-0.1809	10	0.17832	T	0.49	.	19.0179	0.92901	0.0:1.0:0.0:0.0	.	402;402;402	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	Q	402	ENSP00000204726:E402Q;ENSP00000410378:E402Q;ENSP00000409303:E402Q;ENSP00000442143:E402Q;ENSP00000442603:E402Q	ENSP00000204726:E402Q	E	-	1	0	GOLGA3	131893922	1.000000	0.71417	0.018000	0.16275	0.009000	0.06853	7.430000	0.80321	2.496000	0.84212	0.561000	0.74099	GAA	GOLGA3	-	NULL		0.547	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133383849	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	0.985	G	G	133383849	C	G	133383849	3	3	185	1	0	0	0	0	1	0	0	0	6573	922	32	1	3506	1	GOLGA3	12	133383849	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	18074	133383849	468046	1059	35334										
ZMYM2	7750	genome.wustl.edu	37	chr13	20633604	20633604	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tagatgatacttggaggacaGaatatgttccagtgcctatc	10	7	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:20633604G>C	ENST00000382874.2	+	17	2831	c.2641G>C	c.(2641-2643)Gaa>Caa	p.E881Q	ZMYM2_ENST00000382869.3_Missense_Mutation_p.E881Q|ZMYM2_ENST00000382883.3_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E881Q	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	881					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTGGAGGACAGAATATGTTCC	0.363																																																	0													216	188	197					13																	20633604		1903	4133	6036	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2641G>C	13.37:g.20633604G>C	ENSP00000372327:p.Glu881Gln		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.E881Q	ENST00000382874.2	37	c.2641	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	3.997	-0.003406	0.07773	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.17528	2.27	5.32	5.32	0.75619	.	0.044323	0.85682	D	0.000000	T	0.11024	0.0269	N	0.21142	0.635	0.80722	D	1	P	0.52842	0.956	B	0.43990	0.438	T	0.06481	-1.0824	10	0.02654	T	1	-10.706	12.045	0.53475	0.0799:0.0:0.9201:0.0	.	881	Q9UBW7	ZMYM2_HUMAN	Q	881;881;879;879;259	ENSP00000372322:E881Q	ENSP00000372322:E881Q	E	+	1	0	ZMYM2	19531604	1.000000	0.71417	0.942000	0.38095	0.418000	0.31294	5.857000	0.69525	2.501000	0.84356	0.563000	0.77884	GAA	ZMYM2	-	NULL		0.363	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	G	NM_003453		20633604	1	no_errors	ENST00000382869	ensembl	human	known	70_37	missense	SNP	1.000	C	C	20633604	G	C	20633604	3	2	185	1	0	0	0	0	1	0	0	0	17730	943	33	1	2695	1	ZMYM2	13	20633604	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		20633604	94536274	1060	35335										
SGCG	6445	genome.wustl.edu	37	chr13	23777968	23777968	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttgttcttcttttactcatCatcctcgttgtgaatttagc	5	9	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:23777968C>T	ENST00000218867.3	+	2	259	c.135C>T	c.(133-135)atC>atT	p.I45I	SGCG_ENST00000545013.1_Silent_p.I45I|SGCG_ENST00000537476.1_Silent_p.I45I	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	45					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TTTTACTCATCATCCTCGTTG	0.373																																																	0													257	223	235					13																	23777968		2203	4300	6503	SO:0001819	synonymous_variant	6445			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.135C>T	13.37:g.23777968C>T			Q32M32|Q5T9J6	Silent	SNP	pfam_Sarcoglycan	p.I45	ENST00000218867.3	37	c.135	CCDS9299.1	13																																																																																			SGCG	-	pfam_Sarcoglycan		0.373	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	C	NM_000231		23777968	1	no_errors	ENST00000218867	ensembl	human	known	70_37	silent	SNP	1.000	T	T	23777968	C	T	23777968	2	4	185	1	0	0	0	0	0	0	0	1	14233	816	29	1		1	SGCG	13	23777968	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3144364	23777968	91391910	1061	35336										
C1QTNF9	338872	genome.wustl.edu	37	chr13	24893016	24893016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagtggagagaagggagaacGaggttagtagttcctattta	15	3	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:24893016G>A	ENST00000382071.2	+	3	312	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R76Q|C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_3'UTR			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	76	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AAGGGAGAACGAGGTTAGTAG	0.453																																																	0													146	144	145					13																	24893016		2203	4298	6501	SO:0001583	missense	338872			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.227G>A	13.37:g.24893016G>A	ENSP00000371503:p.Arg76Gln		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R76Q	ENST00000382071.2	37	c.227	CCDS9306.1	13	.	.	.	.	.	.	.	.	.	.	g	8.821	0.937662	0.18206	.	.	ENSG00000240654	ENST00000382071;ENST00000332018;ENST00000382066	D;D	0.96011	-3.88;-3.88	3.59	1.72	0.24424	.	0.797229	0.11424	N	0.565501	D	0.85691	0.5755	N	0.04090	-0.28	0.26368	N	0.976938	B	0.14438	0.01	B	0.08055	0.003	T	0.75233	-0.3390	10	0.25106	T	0.35	.	5.5661	0.17170	0.186:0.359:0.4549:0.0	.	76	P0C862	C1T9A_HUMAN	Q	76	ENSP00000371503:R76Q;ENSP00000333737:R76Q	ENSP00000333737:R76Q	R	+	2	0	C1QTNF9	23791016	0.021000	0.18746	0.995000	0.50966	0.274000	0.26718	-0.224000	0.09164	0.259000	0.21709	0.603000	0.83216	CGA	C1QTNF9	-	pfam_Collagen		0.453	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF9	HGNC	protein_coding	OTTHUMT00000044177.1	G	NM_178540		24893016	1	no_errors	ENST00000332018	ensembl	human	known	70_37	missense	SNP	0.980	A	A	24893016	G	A	24893016	3	1	185	1	0	0	0	0	1	0	0	0	1975	1058	37	1	233	1	C1QTNF9	13	24893016	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1115048	24893016	90276862	1062	35337										
FLT1	2321	genome.wustl.edu	37	chr13	28979985	28979985	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctgtttcccatgttgctgtCagcatccaggataaaggact	9	10	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:28979985C>T	ENST00000282397.4	-	11	1734	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	FLT1_ENST00000541932.1_Missense_Mutation_p.D495N|FLT1_ENST00000539099.1_Missense_Mutation_p.D495N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	495	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTTGCTGTCAGCATCCAGG	0.378																																																	0													182	175	178					13																	28979985		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1483G>A	13.37:g.28979985C>T	ENSP00000282397:p.Asp495Asn		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.D495N	ENST00000282397.4	37	c.1483	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356055	0.24598	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.74947	-0.89;-0.3;-0.25	5.73	0.00917	0.14078	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.093960	0.06755	N	0.780743	T	0.55386	0.1917	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.002;0.001	B;B;B;B	0.09377	0.004;0.004;0.004;0.002	T	0.31916	-0.9926	10	0.10636	T	0.68	.	6.0522	0.19792	0.0:0.45:0.1247:0.4253	.	495;495;495;495	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	N	495	ENSP00000282397:D495N;ENSP00000437631:D495N;ENSP00000442630:D495N	ENSP00000282397:D495N	D	-	1	0	FLT1	27877985	0.009000	0.17119	0.032000	0.17829	0.981000	0.71138	0.418000	0.21230	-0.019000	0.14055	0.655000	0.94253	GAC	FLT1	-	smart_Ig_sub,pfscan_Ig-like		0.378	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	C			28979985	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	0.011	T	T	28979985	C	T	28979985	3	4	185	1	0	0	0	0	1	0	0	0	5959	826	29	1	2876	1	FLT1	13	28979985	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4086969	28979985	86189893	1063	35338										
MTUS2	23281	genome.wustl.edu	37	chr13	30071452	30071452	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcgaagaggccttgaggaaGaacacagaggagcagctgga	15	7	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:30071452G>C	ENST00000380808.2	+	6	810	c.594G>C	c.(592-594)aaG>aaC	p.K198N	MTUS2_ENST00000542829.1_Missense_Mutation_p.K108N|MTUS2_ENST00000431530.3_Missense_Mutation_p.K1229N|MTUS2_ENST00000400542.3_3'UTR	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1219						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTTGAGGAAGAACACAGAGG	0.612																																																	0													35	45	42					13																	30071452		2071	4215	6286	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.594G>C	13.37:g.30071452G>C	ENSP00000370186:p.Lys198Asn		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.K1229N	ENST00000380808.2	37	c.3687	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983327	0.53827	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.28255	2.31;1.89;1.62	5.17	-1.15	0.09709	.	0.191073	0.56097	D	0.000038	T	0.36580	0.0972	L	0.47716	1.5	0.37464	D	0.915334	P;D	0.67145	0.934;0.996	P;P	0.59948	0.588;0.866	T	0.18147	-1.0346	9	.	.	.	.	9.3582	0.38179	0.6101:0.0:0.3899:0.0	.	198;1219	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	N	1229;198;108;155	ENSP00000392057:K1229N;ENSP00000370186:K198N;ENSP00000445403:K108N	.	K	+	3	2	MTUS2	28969452	1.000000	0.71417	0.978000	0.43139	0.442000	0.32017	1.341000	0.33907	-0.333000	0.08476	-0.302000	0.09304	AAG	MTUS2	-	NULL		0.612	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	G	XM_166270		30071452	1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.977	C	C	30071452	G	C	30071452	3	2	185	1	0	0	0	0	1	0	0	0	9989	933	33	1	3787	1	MTUS2	13	30071452	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1091467	30071452	85098426	1064	35339										
NBEA	26960	genome.wustl.edu	37	chr13	36239230	36239230	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttttcttgcaggtgactatCcggcaccaagagccgtcctc	10	13	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:36239230C>G	ENST00000400445.3	+	55	8842	c.8308C>G	c.(8308-8310)Ccg>Gcg	p.P2770A	NBEA_ENST00000540320.1_Missense_Mutation_p.P2770A|NBEA_ENST00000379922.3_Missense_Mutation_p.P348A|NBEA_ENST00000537702.1_Missense_Mutation_p.P563A|NBEA_ENST00000310336.4_Missense_Mutation_p.P2770A|NBEA_ENST00000379939.2_Missense_Mutation_p.P2767A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2770					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGTGACTATCCGGCACCAAG	0.483																																																	0													70	70	70					13																	36239230		2034	4200	6234	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8308C>G	13.37:g.36239230C>G	ENSP00000383295:p.Pro2770Ala		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.P2770A	ENST00000400445.3	37	c.8308	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030847	0.35797	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.216802	0.49305	D	0.000145	T	0.18087	0.0434	N	0.04746	-0.17	0.80722	D	1	B;B;B	0.13145	0.005;0.007;0.002	B;B;B	0.15052	0.01;0.012;0.004	T	0.07424	-1.0773	10	0.20519	T	0.43	.	18.8119	0.92061	0.0:1.0:0.0:0.0	.	2770;348;2767	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	A	2770;2770;2767;2770;1399;348;563;348	ENSP00000440951:P2770A;ENSP00000383295:P2770A;ENSP00000369271:P2767A;ENSP00000308534:P2770A;ENSP00000440233:P563A;ENSP00000369254:P348A	ENSP00000308534:P2770A	P	+	1	0	NBEA	35137230	1.000000	0.71417	0.996000	0.52242	0.466000	0.32739	7.093000	0.76937	2.501000	0.84356	0.655000	0.94253	CCG	NBEA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.483	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		36239230	1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36239230	C	G	36239230	3	3	185	1	0	0	0	0	1	0	0	0	10210	855	30	1	8526	1	NBEA	13	36239230	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6167778	36239230	78930648	1065	35340										
FAM48A	55578	genome.wustl.edu	37	chr13	37603941	37603941	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggctgtgagtcatcagatttGatagacttttccactttagc	9	8	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:37603941G>C	ENST00000350612.6	-	13	1174	c.954C>G	c.(952-954)atC>atG	p.I318M	SUPT20H_ENST00000542180.1_Intron|SUPT20H_ENST00000475892.1_Missense_Mutation_p.I318M|SUPT20H_ENST00000464744.1_Missense_Mutation_p.I319M|SUPT20H_ENST00000356185.3_Missense_Mutation_p.I319M|SUPT20H_ENST00000360252.4_Missense_Mutation_p.I319M	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	318					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CATCAGATTTGATAGACTTTT	0.358																																																	0													132	124	126					13																	37603941		2203	4300	6503	SO:0001583	missense	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.954C>G	13.37:g.37603941G>C	ENSP00000218894:p.Ile318Met		E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.I318M	ENST00000350612.6	37	c.954	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628218	0.46944	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	T;T;T;T;T	0.46819	0.86;0.87;1.44;0.86;0.86	5.56	3.74	0.42951	.	0.068304	0.64402	D	0.000007	T	0.53045	0.1772	L	0.60455	1.87	0.80722	D	1	P;P;P;P;P	0.46912	0.69;0.886;0.806;0.878;0.806	B;P;P;P;P	0.51016	0.335;0.454;0.454;0.656;0.454	T	0.50651	-0.8803	10	0.46703	T	0.11	-6.9606	11.3356	0.49503	0.1537:0.0:0.8463:0.0	.	318;318;319;319;318	B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;FA48A_HUMAN	M	319;318;318;319;318;319	ENSP00000353388:I319M;ENSP00000417510:I318M;ENSP00000218894:I318M;ENSP00000348512:I319M;ENSP00000419754:I319M	ENSP00000218894:I318M	I	-	3	3	FAM48A	36501941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.377000	0.44300	0.635000	0.30488	0.650000	0.86243	ATC	FAM48A	-	NULL		0.358	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	HGNC	protein_coding	OTTHUMT00000354766.1	G	NM_017569		37603941	-1	no_errors	ENST00000350612	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37603941	G	C	37603941	3	2	185	1	0	0	0	0	1	0	0	0	5590	1280	45	1	1441	1	FAM48A	13	37603941	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1364711	37603941	77565937	1066	35341										
AKAP11	11215	genome.wustl.edu	37	chr13	42876786	42876786	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgaagattataaagtagaaGagaagttggatatagaggct	12	2	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:42876786G>A	ENST00000025301.2	+	8	4079	c.3904G>A	c.(3904-3906)Gag>Aag	p.E1302K		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1302					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TAAAGTAGAAGAGAAGTTGGA	0.373																																																	0													71	72	72					13																	42876786		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3904G>A	13.37:g.42876786G>A	ENSP00000025301:p.Glu1302Lys		O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.E1302K	ENST00000025301.2	37	c.3904	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930041	0.34096	.	.	ENSG00000023516	ENST00000025301	T	0.55413	0.52	5.75	3.93	0.45458	.	0.303397	0.25701	N	0.028871	T	0.49081	0.1536	M	0.71581	2.175	0.38832	D	0.955879	B	0.15141	0.012	B	0.16722	0.016	T	0.47509	-0.9112	10	0.19590	T	0.45	.	11.1621	0.48522	0.069:0.1283:0.8027:0.0	.	1302	Q9UKA4	AKA11_HUMAN	K	1302	ENSP00000025301:E1302K	ENSP00000025301:E1302K	E	+	1	0	AKAP11	41774786	1.000000	0.71417	0.691000	0.30163	0.025000	0.11179	2.736000	0.47385	1.441000	0.47550	-0.140000	0.14226	GAG	AKAP11	-	NULL		0.373	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	G	NM_016248		42876786	1	no_errors	ENST00000025301	ensembl	human	known	70_37	missense	SNP	0.995	A	A	42876786	G	A	42876786	3	1	185	1	0	0	0	0	1	0	0	0	447	943	33	1	3926	1	AKAP11	13	42876786	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5272845	42876786	72293092	1067	35342										
RB1	5925	genome.wustl.edu	37	chr13	48942733	48942733	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgtaattcctccacacactCcagttaggtatgaattttcc	5	11	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:48942733C>G	ENST00000267163.4	+	11	1258	c.1120C>G	c.(1120-1122)Cca>Gca	p.P374A		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	374	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCCACACACTCCAGTTAGGTA	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	22	Whole gene deletion(15)|Unknown(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											91	84	87					13																	48942733		2203	4299	6502	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1120C>G	13.37:g.48942733C>G	ENSP00000267163:p.Pro374Ala		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.P374A	ENST00000267163.4	37	c.1120	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102033	0.76983	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.95342	-3.68	5.93	5.93	0.95920	Retinoblastoma-associated protein, A-box (1);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.80982	2.52	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97561	1.0098	10	0.87932	D	0	.	18.1269	0.89589	0.0:1.0:0.0:0.0	.	374	P06400	RB_HUMAN	A	353;374	ENSP00000267163:P374A	ENSP00000267163:P374A	P	+	1	0	RB1	47840734	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.122000	0.64697	2.826000	0.97356	0.655000	0.94253	CCA	RB1	-	pfam_RB_A		0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			48942733	1	no_errors	ENST00000267163	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48942733	C	G	48942733	3	3	185	1	0	0	0	0	1	0	0	0	13128	855	30	1	1162	1	RB1	13	48942733	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6065947	48942733	66227145	1068	35343										
ATP7B	540	genome.wustl.edu	37	chr13	52548749	52548749	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcagcttcaaatcccatgtCatttacatggtccctgaggt	9	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:52548749C>A	ENST00000242839.4	-	2	763	c.607G>T	c.(607-609)Gac>Tac	p.D203Y	ATP7B_ENST00000344297.5_Missense_Mutation_p.D203Y|ATP7B_ENST00000400366.3_Missense_Mutation_p.D203Y|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.D203Y|ATP7B_ENST00000542656.1_Missense_Mutation_p.D171Y|ATP7B_ENST00000448424.2_Missense_Mutation_p.D203Y|ATP7B_ENST00000418097.2_Missense_Mutation_p.D203Y	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	203	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATCCCATGTCATTTACATGG	0.473									Wilson disease																																								0													90	91	91					13																	52548749		2002	4179	6181	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.607G>T	13.37:g.52548749C>A	ENSP00000242839:p.Asp203Tyr		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.D203Y	ENST00000242839.4	37	c.607	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826817	0.71143	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.79	5.79	0.91817	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.215506	0.53938	D	0.000041	D	0.95149	0.8428	H	0.95539	3.685	0.58432	D	0.999994	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.997;1.0;1.0;1.0;0.993	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.987;0.964;0.999;0.993;0.994;0.967	D	0.95557	0.8626	10	0.59425	D	0.04	-29.2412	12.8129	0.57649	0.0:0.8838:0.0:0.1162	.	171;203;203;203;203;203;203;203	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	Y	203;203;203;203;203;203;171	ENSP00000242839:D203Y;ENSP00000383217:D203Y;ENSP00000342559:D203Y;ENSP00000416738:D203Y;ENSP00000383221:D203Y;ENSP00000393343:D203Y;ENSP00000443128:D171Y	ENSP00000242839:D203Y	D	-	1	0	ATP7B	51446750	0.998000	0.40836	0.961000	0.40146	0.984000	0.73092	3.905000	0.56333	2.750000	0.94351	0.561000	0.74099	GAC	ATP7B	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd		0.473	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	C	NM_000053		52548749	-1	no_errors	ENST00000242839	ensembl	human	known	70_37	missense	SNP	0.988	A	A	52548749	C	A	52548749	3	1	185	1	0	0	0	0	1	0	0	0	1192	826	29	3	3870	3	ATP7B	13	52548749	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3606016	52548749	62621129	1069	35344										
UTP14C	9724	genome.wustl.edu	37	chr13	52604690	52604690	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caataatagaggagctggaaGatgaagaggagagagaccaa	14	4	0	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:52604690G>C	ENST00000521776.2	+	2	2483	c.1750G>C	c.(1750-1752)Gat>Cat	p.D584H		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	584					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGAGCTGGAAGATGAAGAGGA	0.473																																																	0													91	93	92					13																	52604690		2203	4300	6503	SO:0001583	missense	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1750G>C	13.37:g.52604690G>C	ENSP00000428619:p.Asp584His		Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.D584H	ENST00000521776.2	37	c.1750	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630417	0.46944	.	.	ENSG00000253797	ENST00000521776	T	0.19806	2.12	2.9	2.9	0.33743	.	0.247869	0.45361	D	0.000379	T	0.48484	0.1502	M	0.88105	2.93	0.47183	D	0.999346	D	0.76494	0.999	D	0.71656	0.974	T	0.57688	-0.7768	9	.	.	.	-17.4577	11.5533	0.50733	0.0:0.0:1.0:0.0	.	584	Q5TAP6	UT14C_HUMAN	H	584	ENSP00000428619:D584H	.	D	+	1	0	UTP14C	51502691	0.224000	0.23674	0.968000	0.41197	0.908000	0.53690	1.038000	0.30254	1.631000	0.50456	0.455000	0.32223	GAT	UTP14C	-	pfam_SSU_processome_Utp14		0.473	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	G	NM_021645		52604690	1	no_errors	ENST00000521776	ensembl	human	known	70_37	missense	SNP	0.985	C	C	52604690	G	C	52604690	3	2	185	1	0	0	0	0	1	0	0	0	17127	942	33	1	1752	1	UTP14C	13	52604690	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	55941	52604690	62565188	1070	35345										
CKAP2	26586	genome.wustl.edu	37	chr13	53035894	53035894	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaggtataataagaaataaGactctatcaagatccatagc	6	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:53035894G>C	ENST00000378037.5	+	4	1026	c.936G>C	c.(934-936)aaG>aaC	p.K312N	CKAP2_ENST00000258607.5_Missense_Mutation_p.K311N|CKAP2_ENST00000490903.1_Missense_Mutation_p.K263N|CKAP2_ENST00000378034.3_Missense_Mutation_p.K311N	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TAAGAAATAAGACTCTATCAA	0.383																																																	0													76	81	79					13																	53035894		2203	4300	6503	SO:0001583	missense	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.936G>C	13.37:g.53035894G>C	ENSP00000367276:p.Lys312Asn			Missense_Mutation	SNP	NULL	p.K312N	ENST00000378037.5	37	c.936	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	8.123	0.781401	0.16120	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.27402	2.03;1.67;2.0;2.02	4.89	0.442	0.16582	.	1.561020	0.03205	N	0.175294	T	0.43545	0.1252	M	0.64997	1.995	0.09310	N	1	D;D;P;D	0.53462	0.96;0.96;0.763;0.96	P;P;P;P	0.52856	0.711;0.711;0.463;0.711	T	0.25293	-1.0136	9	.	.	.	-0.1151	6.7859	0.23673	0.5781:0.0:0.4219:0.0	.	263;312;311;312	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	N	312;311;311;312;263	ENSP00000258607:K311N;ENSP00000367273:K311N;ENSP00000367276:K312N;ENSP00000417830:K263N	.	K	+	3	2	CKAP2	51933895	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.100000	0.10990	0.145000	0.18977	-0.808000	0.03180	AAG	CKAP2	-	NULL		0.383	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	HGNC	protein_coding	OTTHUMT00000355010.2	G			53035894	1	no_errors	ENST00000378037	ensembl	human	known	70_37	missense	SNP	0.000	C	C	53035894	G	C	53035894	3	2	185	1	0	0	0	0	1	0	0	0	3447	933	33	1	950	1	CKAP2	13	53035894	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	431204	53035894	62133984	1071	35346										
MYCBP2	23077	genome.wustl.edu	37	chr13	77670497	77670497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaggtatttttctctacagcGatcacataccagataccaag	7	10	2	1	rs201714806		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:77670497G>A	ENST00000544440.2	-	57	9807	c.9790C>T	c.(9790-9792)Cgc>Tgc	p.R3264C	MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3302C|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3264C					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTCTACAGCGATCACATACC	0.433																																																	0													179	153	162					13																	77670497		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9790C>T	13.37:g.77670497G>A	ENSP00000444596:p.Arg3264Cys			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R3302C	ENST00000544440.2	37	c.9904		13	.	.	.	.	.	.	.	.	.	.	G	32	5.125269	0.94429	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30182	1.54;1.54;1.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.42378	-0.9455	10	0.56958	D	0.05	.	19.2193	0.93790	0.0:0.0:1.0:0.0	.	3264	O75592	MYCB2_HUMAN	C	3264;3302;3264	ENSP00000349892:R3264C;ENSP00000384288:R3302C;ENSP00000444596:R3264C	ENSP00000349892:R3264C	R	-	1	0	MYCBP2	76568498	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.732000	0.74790	2.524000	0.85096	0.655000	0.94253	CGC	MYCBP2	-	superfamily_ARM-type_fold		0.433	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	G	NM_015057		77670497	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77670497	G	A	77670497	3	1	185	1	0	0	0	0	1	0	0	0	10041	1058	37	1	4240	1	MYCBP2	13	77670497	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	24634603	77670497	37499381	1072	35347										
SOX21	11166	genome.wustl.edu	37	chr13	95364171	95364171	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctctgtgagcagtttccactCggcgcccaagcgcttgctga	11	14	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:95364171C>G	ENST00000376945.2	-	1	218	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	45					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					AGTTTCCACTCGGCGCCCAAG	0.612																																																	0													87	87	87					13																	95364171		2203	4300	6503	SO:0001583	missense	11166			AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"SRY (sex determining region Y)-boxes"	11197	protein-coding gene	gene with protein product	"SRY-box 21"	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.133G>C	13.37:g.95364171C>G	ENSP00000366144:p.Glu45Gln		P35715|Q15504|Q5TBS1	Missense_Mutation	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_Antifreeze_1	p.E45Q	ENST00000376945.2	37	c.133	CCDS9473.1	13	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620872	0.46736	.	.	ENSG00000125285	ENST00000376945	D	0.98028	-4.67	3.31	2.45	0.29901	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.95089	0.8409	N	0.21194	0.64	0.80722	D	1	P	0.38992	0.653	P	0.45856	0.495	D	0.93185	0.6578	10	0.87932	D	0	.	10.2339	0.43270	0.0:0.8966:0.0:0.1034	.	45	Q9Y651	SOX21_HUMAN	Q	45	ENSP00000366144:E45Q	ENSP00000366144:E45Q	E	-	1	0	SOX21	94162172	1.000000	0.71417	0.998000	0.56505	0.156000	0.22039	7.362000	0.79507	0.491000	0.27793	0.491000	0.48974	GAG	SOX21	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.612	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX21	HGNC	protein_coding	OTTHUMT00000045467.4	C	NM_007084		95364171	-1	no_errors	ENST00000376945	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95364171	C	G	95364171	3	3	185	1	0	0	0	0	1	0	0	0	14980	893	31	1	701	1	SOX21	13	95364171	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	17693674	95364171	19805707	1073	35348										
ABCC4	10257	genome.wustl.edu	37	chr13	95696671	95696671	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cattttaccaggaagatcttCaatggtttctttaagttgta	7	6	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:95696671C>A	ENST00000376887.4	-	28	3592	c.3478G>T	c.(3478-3480)Gaa>Taa	p.E1160*	ABCC4_ENST00000412704.1_Nonsense_Mutation_p.E1113*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1160	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGAAGATCTTCAATGGTTTCT	0.403																																																	0													70	67	68					13																	95696671		2202	4300	6502	SO:0001587	stop_gained	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3478G>T	13.37:g.95696671C>A	ENSP00000366084:p.Glu1160*		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.E1160*	ENST00000376887.4	37	c.3478	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	44	11.036869	0.99507	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	.	.	.	5.67	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.8244	0.70101	0.0:0.9307:0.0:0.0693	.	.	.	.	X	1113;1160	.	ENSP00000366084:E1160X	E	-	1	0	ABCC4	94494672	1.000000	0.71417	0.921000	0.36526	0.997000	0.91878	7.487000	0.81328	1.403000	0.46800	0.655000	0.94253	GAA	ABCC4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.403	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	C	NM_005845		95696671	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	95696671	C	A	95696671	4	1	185	1	0	0	0	0	0	1	0	0	55	835	29	3	515	3	ABCC4	13	95696671	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	332500	95696671	19473207	1074	35349										
IPO5	3843	genome.wustl.edu	37	chr13	98664577	98664577	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaactgatggtccctttactGaaattttatttccacgatga	6	8	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:98664577G>A	ENST00000490680.1	+	18	2198	c.2133G>A	c.(2131-2133)ctG>ctA	p.L711L	IPO5_ENST00000261574.5_Silent_p.L729L|IPO5_ENST00000539640.1_Silent_p.L586L			O00410	IPO5_HUMAN	importin 5	711					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TCCCTTTACTGAAATTTTATT	0.378																																																	0													132	125	128					13																	98664577		2203	4300	6503	SO:0001819	synonymous_variant	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2133G>A	13.37:g.98664577G>A			B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.L729	ENST00000490680.1	37	c.2187		13																																																																																			IPO5	-	superfamily_ARM-type_fold		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	G	NM_002271		98664577	1	no_errors	ENST00000261574	ensembl	human	known	70_37	silent	SNP	1.000	A	A	98664577	G	A	98664577	2	1	185	1	0	0	0	0	0	0	0	1	7816	1277	45	1		1	IPO5	13	98664577	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2967906	98664577	16505301	1075	35350										
FARP1	10160	genome.wustl.edu	37	chr13	99083327	99083327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcacctgtggaagcacagcGaggccttggaggccctggag	15	12	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:99083327G>A	ENST00000319562.6	+	18	2201	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	FARP1_ENST00000595437.1_Missense_Mutation_p.E646K|FARP1_ENST00000376586.2_Missense_Mutation_p.E646K	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	646	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAAGCACAGCGAGGCCTTGGA	0.577																																																	0													48	53	51					13																	99083327		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1936G>A	13.37:g.99083327G>A	ENSP00000322926:p.Glu646Lys		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E646K	ENST00000319562.6	37	c.1936	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476976	0.84640	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.67865	-0.29;-0.29	5.42	5.42	0.78866	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	M	0.82517	2.595	0.80722	D	1	P;D	0.56287	0.616;0.975	B;P	0.56916	0.136;0.809	D	0.83673	0.0167	10	0.66056	D	0.02	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	646;646	Q9Y4F1;C9JME2	FARP1_HUMAN;.	K	646	ENSP00000365771:E646K;ENSP00000322926:E646K	ENSP00000322926:E646K	E	+	1	0	FARP1	97881328	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	9.137000	0.94496	2.693000	0.91896	0.650000	0.86243	GAG	FARP1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.577	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	G	NM_005766		99083327	1	no_errors	ENST00000376586	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99083327	G	A	99083327	3	1	185	1	0	0	0	0	1	0	0	0	5694	1059	37	1	2225	1	FARP1	13	99083327	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	418750	99083327	16086551	1076	35351										
DOCK9	23348	genome.wustl.edu	37	chr13	99537987	99537987	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtttcaacgacatccctcttCttcgtgcttcctttacttga	5	13	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:99537987C>T	ENST00000376460.1	-	20	2315	c.2235G>A	c.(2233-2235)aaG>aaA	p.K745K	DOCK9_ENST00000448493.2_Silent_p.K757K|DOCK9_ENST00000339416.2_Silent_p.K746K|DOCK9_ENST00000442173.1_Silent_p.K745K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	746	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCCCTCTTCTTCGTGCTTC	0.398																																																	0													118	121	120					13																	99537987		1879	4113	5992	SO:0001819	synonymous_variant	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2235G>A	13.37:g.99537987C>T			B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K746	ENST00000376460.1	37	c.2238	CCDS45062.1	13																																																																																			DOCK9	-	NULL		0.398	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	C	NM_015296		99537987	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	silent	SNP	1.000	T	T	99537987	C	T	99537987	2	4	185	1	0	0	0	0	0	0	0	1	4704	912	32	1		1	DOCK9	13	99537987	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	454660	99537987	15631891	1077	35352										
ZIC5	85416	genome.wustl.edu	37	chr13	100622612	100622612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtgacgtgattcaccagctCgtgcatggtgccgaaagttt	12	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:100622612C>T	ENST00000267294.4	-	1	1551	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	440					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCACCAGCTCGTGCATGGTG	0.741																																																	0													50	49	49					13																	100622612		2203	4300	6503	SO:0001583	missense	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1318G>A	13.37:g.100622612C>T	ENSP00000267294:p.Glu440Lys		Q5VYB0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E440K	ENST00000267294.4	37	c.1318	CCDS9494.2	13	.	.	.	.	.	.	.	.	.	.	C	33	5.223777	0.95139	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.35605	1.3	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.41190	0.1148	M	0.74546	2.27	0.80722	D	1	P	0.50943	0.94	B	0.40285	0.325	T	0.55573	-0.8120	9	0.87932	D	0	.	15.7566	0.78037	0.0:1.0:0.0:0.0	.	440	Q96T25	ZIC5_HUMAN	K	78;440	ENSP00000267294:E440K	ENSP00000267294:E440K	E	-	1	0	ZIC5	99420613	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.357000	0.79456	1.983000	0.57843	0.313000	0.20887	GAG	ZIC5	-	smart_Znf_C2H2-like		0.741	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	C	NM_033132		100622612	-1	no_errors	ENST00000267294	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	100622612	C	T	100622612	3	4	185	1	0	0	0	0	1	0	0	0	17712	893	31	1	681	1	ZIC5	13	100622612	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1084625	100622612	14547266	1078	35353										
TPP2	7174	genome.wustl.edu	37	chr13	103282469	103282469	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttggtgcttatgtttctcctGatatgatggttgctgagtat	11	5	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:103282469G>A	ENST00000376065.4	+	10	1204	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	TPP2_ENST00000376052.3_Missense_Mutation_p.D390N	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	390	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTTCTCCTGATATGATGGT	0.413																																																	0													151	134	140					13																	103282469		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1168G>A	13.37:g.103282469G>A	ENSP00000365233:p.Asp390Asn		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.D390N	ENST00000376065.4	37	c.1168	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859306	0.91433	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.88741	-2.42;-2.42	5.79	5.79	0.91817	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.88213	0.6376	L	0.43646	1.37	0.80722	D	1	P	0.43701	0.815	B	0.43413	0.419	D	0.88555	0.3119	10	0.59425	D	0.04	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	390	P29144	TPP2_HUMAN	N	390	ENSP00000365233:D390N;ENSP00000365220:D390N	ENSP00000365220:D390N	D	+	1	0	TPP2	102080470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.186000	0.94906	2.753000	0.94483	0.557000	0.71058	GAT	TPP2	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.413	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	G			103282469	1	no_errors	ENST00000376065	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103282469	G	A	103282469	3	1	185	1	0	0	0	0	1	0	0	0	16443	1290	45	1	1206	1	TPP2	13	103282469	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2659857	103282469	11887409	1079	35354										
SLC10A2	6555	genome.wustl.edu	37	chr13	103698551	103698551	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctctggctccgttccattttCtttgctctctggaatttctg	7	12	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:103698551C>G	ENST00000245312.3	-	6	1575	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	327					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GTTCCATTTTCTTTGCTCTCT	0.358																																																	0													137	117	124					13																	103698551		2202	4300	6502	SO:0001583	missense	6555			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.979G>C	13.37:g.103698551C>G	ENSP00000245312:p.Glu327Gln		A1L4F4|Q13839	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.E327Q	ENST00000245312.3	37	c.979	CCDS9506.1	13	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330891	0.24167	.	.	ENSG00000125255	ENST00000245312	T	0.09073	3.02	5.64	1.91	0.25777	.	0.937794	0.09163	N	0.839900	T	0.07279	0.0184	L	0.43923	1.385	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39461	-0.9613	10	0.26408	T	0.33	-4.3501	4.5398	0.12052	0.0:0.5791:0.1619:0.259	.	327	Q12908	NTCP2_HUMAN	Q	327	ENSP00000245312:E327Q	ENSP00000245312:E327Q	E	-	1	0	SLC10A2	102496552	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	0.638000	0.24674	0.943000	0.37553	0.650000	0.86243	GAA	SLC10A2	-	NULL		0.358	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A2	HGNC	protein_coding	OTTHUMT00000045716.1	C			103698551	-1	no_errors	ENST00000245312	ensembl	human	known	70_37	missense	SNP	0.000	G	G	103698551	C	G	103698551	3	3	185	1	0	0	0	0	1	0	0	0	14404	922	32	1	71	1	SLC10A2	13	103698551	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	416082	103698551	11471327	1080	35355										
ARGLU1	55082	genome.wustl.edu	37	chr13	107219979	107219979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcctctcgcttctgcttctCgtccaggctgctgcgcttgc	9	17	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:107219979C>T	ENST00000400198.3	-	1	533	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	97	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTCTGCTTCTCGTCCAGGCTG	0.701																																																	0													49	50	49					13																	107219979		2008	4192	6200	SO:0001583	missense	55082			BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.289G>A	13.37:g.107219979C>T	ENSP00000383059:p.Glu97Lys		B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	NULL	p.E97K	ENST00000400198.3	37	c.289	CCDS41906.1	13	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635594	0.87760	.	.	ENSG00000134884	ENST00000400198;ENST00000426600	T	0.21734	1.99	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.15219	0.0367	L	0.29908	0.895	0.80722	D	1	P	0.40931	0.733	B	0.30572	0.117	T	0.05989	-1.0852	10	0.49607	T	0.09	-8.2441	17.1444	0.86762	0.0:1.0:0.0:0.0	.	97	Q9NWB6	ARGL1_HUMAN	K	97;47	ENSP00000383059:E97K	ENSP00000383059:E97K	E	-	1	0	ARGLU1	106017980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.085000	0.76875	2.029000	0.59856	0.455000	0.32223	GAG	ARGLU1	-	NULL		0.701	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	HGNC	protein_coding	OTTHUMT00000045727.1	C	NM_018011		107219979	-1	no_errors	ENST00000400198	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107219979	C	T	107219979	3	4	185	1	0	0	0	0	1	0	0	0	860	893	31	1	548	1	ARGLU1	13	107219979	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3521428	107219979	7949899	1081	35356										
TNFSF13B	10673	genome.wustl.edu	37	chr13	108922315	108922315	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaagagaagaaatgaaactGaaggagtgtgtttccatcct	10	5	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:108922315G>A	ENST00000375887.4	+	1	250	c.72G>A	c.(70-72)ctG>ctA	p.L24L	TNFSF13B_ENST00000542136.1_Silent_p.L24L|TNFSF13B_ENST00000430559.1_Silent_p.L24L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	24					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	AAATGAAACTGAAGGAGTGTG	0.502																																																	0													117	122	120					13																	108922315		2203	4300	6503	SO:0001819	synonymous_variant	10673			AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.72G>A	13.37:g.108922315G>A			E0ADT7|Q6FHD6|Q7Z5J2	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	p.L24	ENST00000375887.4	37	c.72	CCDS9509.1	13																																																																																			TNFSF13B	-	NULL		0.502	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF13B	HGNC	protein_coding	OTTHUMT00000045739.3	G			108922315	1	no_errors	ENST00000375887	ensembl	human	known	70_37	silent	SNP	0.038	A	A	108922315	G	A	108922315	2	1	185	1	0	0	0	0	0	0	0	1	16336	1277	45	1		1	TNFSF13B	13	108922315	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1702336	108922315	6247563	1082	35357										
PCID2	55795	genome.wustl.edu	37	chr13	113835480	113835480	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggaagcaaatagatcagaatCatccttttgttcttctgact	7	8	4	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:113835480C>T	ENST00000337344.4	-	10	826	c.750G>A	c.(748-750)atG>atA	p.M250I	PCID2_ENST00000375457.2_Missense_Mutation_p.M248I|PCID2_ENST00000375477.1_Missense_Mutation_p.M250I|PCID2_ENST00000375479.2_Missense_Mutation_p.M250I|PCID2_ENST00000375459.1_Missense_Mutation_p.M248I|PCID2_ENST00000246505.5_Missense_Mutation_p.M304I|PCID2_ENST00000493650.1_5'UTR	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	250					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AGATCAGAATCATCCTTTTGT	0.423																																																	0													149	129	136					13																	113835480		2203	4300	6503	SO:0001583	missense	55795			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.750G>A	13.37:g.113835480C>T	ENSP00000337405:p.Met250Ile		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	pfam_PCI_dom,smart_PAM	p.M304I	ENST00000337344.4	37	c.912	CCDS9532.2	13	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613833	0.66672	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.25	5.25	0.73442	PCI/PINT associated module (1);	0.042155	0.85682	D	0.000000	T	0.64918	0.2642	L	0.60845	1.875	0.80722	D	1	B;B	0.18310	0.027;0.001	B;B	0.16289	0.015;0.004	T	0.60378	-0.7275	9	0.29301	T	0.29	-38.0358	18.867	0.92296	0.0:1.0:0.0:0.0	.	304;250	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	I	250;250;250;304;248;248;227;250;227	.	ENSP00000246505:M304I	M	-	3	0	PCID2	112883481	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	5.856000	0.69518	2.445000	0.82738	0.563000	0.77884	ATG	PCID2	-	smart_PAM		0.423	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1	C	NM_018386		113835480	-1	no_errors	ENST00000246505	ensembl	human	known	70_37	missense	SNP	1.000	T	T	113835480	C	T	113835480	3	4	185	1	0	0	0	0	1	0	0	0	11603	826	29	1	469	1	PCID2	13	113835480	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4913165	113835480	1334398	1083	35358										
CUL4A	8451	genome.wustl.edu	37	chr13	113915001	113915001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgctatcgtcagaataatGaagatgagaaagactcttgg	11	6	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr13:113915001G>A	ENST00000375440.4	+	19	2196	c.2112G>A	c.(2110-2112)atG>atA	p.M704I	CUL4A_ENST00000375441.3_Missense_Mutation_p.M604I|CUL4A_ENST00000326335.4_Missense_Mutation_p.M604I|CUL4A_ENST00000451881.1_Missense_Mutation_p.M604I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	704					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TCAGAATAATGAAGATGAGAA	0.318																																																	0													77	75	75					13																	113915001		2203	4300	6503	SO:0001583	missense	8451			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.2112G>A	13.37:g.113915001G>A	ENSP00000364589:p.Met704Ile		A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.M704I	ENST00000375440.4	37	c.2112	CCDS41908.1	13	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947789	0.92593	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.92	5.38	5.38	0.77491	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96100	0.8729	H	0.99197	4.465	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	D	0.98039	1.0381	10	0.87932	D	0	-53.5857	19.1199	0.93358	0.0:0.0:1.0:0.0	.	704;704	Q13619;A8MSH7	CUL4A_HUMAN;.	I	604;604;604;704	ENSP00000364590:M604I;ENSP00000389118:M604I;ENSP00000322132:M604I;ENSP00000364589:M704I	ENSP00000322132:M604I	M	+	3	0	CUL4A	112963002	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.239000	0.95389	2.507000	0.84556	0.561000	0.74099	ATG	CUL4A	-	pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain		0.318	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	G	NM_003589		113915001	1	no_errors	ENST00000375440	ensembl	human	known	70_37	missense	SNP	1.000	A	A	113915001	G	A	113915001	3	1	185	1	0	0	0	0	1	0	0	0	4062	1290	45	1	2186	1	CUL4A	13	113915001	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	79521	113915001	1254877	1084	35359										
SUPT16H	11198	genome.wustl.edu	37	chr14	21831637	21831637	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcttcactttcttcttcacaGaagtgagaacagtagctggg	9	9	5	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:21831637G>A	ENST00000216297.2	-	11	1597	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	420					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTTCTTCACAGAAGTGAGAAC	0.343																																																	0													49	51	51					14																	21831637		2203	4299	6502	SO:0001583	missense	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1259C>T	14.37:g.21831637G>A	ENSP00000216297:p.Ser420Phe		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.S420F	ENST00000216297.2	37	c.1259	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058184	0.55325	.	.	ENSG00000092201	ENST00000216297	T	0.76578	-1.03	5.0	5.0	0.66597	Peptidase M24, structural domain (2);	0.190431	0.47093	D	0.000246	T	0.67543	0.2904	L	0.29908	0.895	0.80722	D	1	B	0.34264	0.446	B	0.35073	0.195	T	0.69094	-0.5236	10	0.46703	T	0.11	-12.2621	12.214	0.54396	0.0:0.0:0.8293:0.1707	.	420	Q9Y5B9	SP16H_HUMAN	F	420	ENSP00000216297:S420F	ENSP00000216297:S420F	S	-	2	0	SUPT16H	20901477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.511000	0.73733	2.323000	0.78572	0.655000	0.94253	TCT	SUPT16H	-	superfamily_Pept_M24_structural-domain		0.343	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	G			21831637	-1	no_errors	ENST00000216297	ensembl	human	known	70_37	missense	SNP	1.000	A	A	21831637	G	A	21831637	3	1	185	1	0	0	0	0	1	0	0	0	15426	942	33	1	1948	1	SUPT16H	14	21831637	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		21831637	85517903	1085	35360										
ACIN1	22985	genome.wustl.edu	37	chr14	23551033	23551033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacctttctcttcagaaattGaggagctttttcctattgaa	6	9	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:23551033G>A	ENST00000262710.1	-	5	950	c.623C>T	c.(622-624)tCa>tTa	p.S208L	ACIN1_ENST00000605057.1_Missense_Mutation_p.S150L|ACIN1_ENST00000457657.1_Missense_Mutation_p.S168L|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.S208L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	208	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTCAGAAATTGAGGAGCTTTT	0.378																																																	0													181	168	172					14																	23551033		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.623C>T	14.37:g.23551033G>A	ENSP00000262710:p.Ser208Leu		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.S208L	ENST00000262710.1	37	c.623	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446674	0.63178	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29917	2.32;1.55;2.32	5.48	4.58	0.56647	.	0.000000	0.38897	N	0.001526	T	0.36608	0.0973	N	0.25647	0.755	0.23645	N	0.997216	D;D	0.63046	0.992;0.987	D;D	0.71656	0.974;0.942	T	0.10177	-1.0641	10	0.33141	T	0.24	-8.3847	9.2285	0.37421	0.1596:0.0:0.8404:0.0	.	208;208	G3V3M7;Q9UKV3	.;ACINU_HUMAN	L	208;168;208	ENSP00000262710:S208L;ENSP00000405677:S168L;ENSP00000451328:S208L	ENSP00000262710:S208L	S	-	2	0	ACIN1	22620873	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	3.343000	0.52167	2.556000	0.86216	0.655000	0.94253	TCA	ACIN1	-	NULL		0.378	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	G	NM_014977		23551033	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	missense	SNP	0.785	A	A	23551033	G	A	23551033	3	1	185	1	0	0	0	0	1	0	0	0	142	1294	45	1	3609	1	ACIN1	14	23551033	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1719396	23551033	83798507	1086	35361										
MYH7	4625	genome.wustl.edu	37	chr14	23902431	23902431	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acctggtcctccttcacggtCactgtctgcaagagccccca	8	17	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:23902431C>G	ENST00000355349.3	-	4	369	c.207G>C	c.(205-207)gtG>gtC	p.V69V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	69					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTTCACGGTCACTGTCTGCA	0.582																																																	0													176	135	149					14																	23902431		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.207G>C	14.37:g.23902431C>G			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V69	ENST00000355349.3	37	c.207	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_N		0.582	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23902431	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	silent	SNP	1.000	G	G	23902431	C	G	23902431	2	3	185	1	0	0	0	0	0	0	0	1	10062	813	29	1		1	MYH7	14	23902431	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	351398	23902431	83447109	1087	35362										
ADCY4	196883	genome.wustl.edu	37	chr14	24798280	24798280	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacataccgggagaggggtgGaggtggacacagggctgtct	18	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:24798280G>C	ENST00000310677.4	-	11	1624	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C	ADCY4_ENST00000418030.2_Missense_Mutation_p.S504C|ADCY4_ENST00000396747.3_Missense_Mutation_p.S197C|ADCY4_ENST00000554068.2_Missense_Mutation_p.S504C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	504					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAGAGGGGTGGAGGTGGACAC	0.617																																																	0													125	141	136					14																	24798280		2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1511C>G	14.37:g.24798280G>C	ENSP00000312126:p.Ser504Cys		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S504C	ENST00000310677.4	37	c.1511	CCDS9627.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.880765|3.880765	0.72294|0.72294	.|.	.|.	ENSG00000129467|ENSG00000129467	ENST00000556932|ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	.|T;T;T;T	.|0.77358	.|-1.09;-1.09;-1.09;-1.09	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.000000	.|0.44285	.|D	.|0.000466	T|T	0.67126|0.67126	0.2860|0.2860	N|N	0.22421|0.22421	0.69|0.69	0.42567|0.42567	D|D	0.993169|0.993169	.|B	.|0.06786	.|0.001	.|B	.|0.14023	.|0.01	T|T	0.66011|0.66011	-0.6029|-0.6029	5|10	.|0.62326	.|D	.|0.03	.|.	15.197|15.197	0.73100|0.73100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|504	.|Q8NFM4	.|ADCY4_HUMAN	A|C	77|504;504;504;197	.|ENSP00000312126:S504C;ENSP00000452250:S504C;ENSP00000393177:S504C;ENSP00000379971:S197C	.|ENSP00000312126:S504C	P|S	-|-	1|2	0|0	ADCY4|ADCY4	23868120|23868120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.249000|6.249000	0.72427|0.72427	2.450000|2.450000	0.82876|0.82876	0.655000|0.655000	0.94253|0.94253	CCA|TCC	ADCY4	-	pfam_Adenylate_cyclase-like		0.617	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24798280	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24798280	G	C	24798280	3	2	185	1	0	0	0	0	1	0	0	0	296	1174	41	1	1786	1	ADCY4	14	24798280	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	895849	24798280	82551260	1088	35363										
NYNRIN	57523	genome.wustl.edu	37	chr14	24886443	24886443	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaaggagtggaatgtgggtGaccaggtccttttgctgtcc	15	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:24886443G>C	ENST00000382554.3	+	9	5806	c.5488G>C	c.(5488-5490)Gac>Cac	p.D1830H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1830					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAATGTGGGTGACCAGGTCCT	0.587																																																	0													58	66	64					14																	24886443		2030	4186	6216	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5488G>C	14.37:g.24886443G>C	ENSP00000371994:p.Asp1830His		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.D1830H	ENST00000382554.3	37	c.5488	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	16.45	3.128043	0.56721	.	.	ENSG00000205978	ENST00000382554	T	0.19105	2.17	4.65	4.65	0.58169	.	.	.	.	.	T	0.33089	0.0851	N	0.24115	0.695	0.35379	D	0.789781	D	0.89917	1.0	D	0.83275	0.996	T	0.42548	-0.9445	9	0.72032	D	0.01	.	15.3964	0.74798	0.0:0.0:1.0:0.0	.	1830	Q9P2P1	NYNRI_HUMAN	H	1830	ENSP00000371994:D1830H	ENSP00000371994:D1830H	D	+	1	0	NYNRIN	23956283	1.000000	0.71417	0.971000	0.41717	0.401000	0.30781	5.730000	0.68546	2.571000	0.86741	0.563000	0.77884	GAC	NYNRIN	-	NULL		0.587	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	G			24886443	1	no_errors	ENST00000382554	ensembl	human	known	70_37	missense	SNP	0.988	C	C	24886443	G	C	24886443	3	2	185	1	0	0	0	0	1	0	0	0	10820	1290	45	1	5518	1	NYNRIN	14	24886443	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	88163	24886443	82463097	1089	35364										
ARHGAP5	394	genome.wustl.edu	37	chr14	32560284	32560284	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taatgtacatttgcactgatCagctaggcttagaacaagac	8	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:32560284C>T	ENST00000345122.3	+	2	724	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.Q137*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.Q137*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.Q137*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	137					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGCACTGATCAGCTAGGCTT	0.388																																					NSCLC(9;77 350 3443 29227 41353)												0													78	75	76					14																	32560284		2203	4299	6502	SO:0001587	stop_gained	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.409C>T	14.37:g.32560284C>T	ENSP00000371897:p.Gln137*		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.Q137*	ENST00000345122.3	37	c.409	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451481	0.63290	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000371897:Q137X	Q	+	1	0	ARHGAP5	31630035	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	CAG	ARHGAP5	-	NULL		0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	C	NM_001030055		32560284	1	no_errors	ENST00000345122	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	32560284	C	T	32560284	4	4	185	1	0	0	0	0	0	1	0	0	886	827	29	1	411	1	ARHGAP5	14	32560284	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7673841	32560284	74789256	1090	35365										
NPAS3	64067	genome.wustl.edu	37	chr14	34268968	34268968	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagaactccaagtccgacgaGaaggggaaccagtccgagaa	13	10	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:34268968G>A	ENST00000356141.4	+	12	1455	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	NPAS3_ENST00000346562.2_Silent_p.E453E|NPAS3_ENST00000551492.1_Silent_p.E490E|NPAS3_ENST00000548645.1_Silent_p.E455E|NPAS3_ENST00000357798.5_Silent_p.E472E			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	485					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGTCCGACGAGAAGGGGAACC	0.642																																																	0													27	25	26					14																	34268968		2179	4278	6457	SO:0001819	synonymous_variant	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1455G>A	14.37:g.34268968G>A			Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.E485	ENST00000356141.4	37	c.1455	CCDS53891.1	14																																																																																			NPAS3	-	NULL		0.642	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	G			34268968	1	no_errors	ENST00000356141	ensembl	human	known	70_37	silent	SNP	1.000	A	A	34268968	G	A	34268968	2	1	185	1	0	0	0	0	0	0	0	1	10588	933	33	1		1	NPAS3	14	34268968	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1708684	34268968	73080572	1091	35366										
FAM177A1	283635	genome.wustl.edu	37	chr14	35548163	35548163	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccttggagagaagattgcatCtgttttgggtatcagcaccc	11	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:35548163C>G	ENST00000382406.3	+	5	425	c.368C>G	c.(367-369)tCt>tGt	p.S123C	FAM177A1_ENST00000280987.4_Missense_Mutation_p.S146C|FAM177A1_ENST00000396472.1_Missense_Mutation_p.S123C			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	123										breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						AAGATTGCATCTGTTTTGGGT	0.343																																																	0													120	109	113					14																	35548163		2203	4300	6503	SO:0001583	missense	283635			BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 24"	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.368C>G	14.37:g.35548163C>G	ENSP00000371843:p.Ser123Cys		Q68CT2	Missense_Mutation	SNP	NULL	p.S146C	ENST00000382406.3	37	c.437	CCDS41944.1	14	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662097	0.88251	.	.	ENSG00000151327	ENST00000396472;ENST00000382406;ENST00000280987;ENST00000554794	.	.	.	5.84	5.84	0.93424	.	0.110075	0.64402	D	0.000004	T	0.80602	0.4654	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81575	-0.0870	9	0.66056	D	0.02	.	18.334	0.90280	0.0:1.0:0.0:0.0	.	146;123	Q8N128-2;Q8N128	.;F177A_HUMAN	C	123;123;146;91	.	ENSP00000280987:S146C	S	+	2	0	FAM177A1	34617914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.764000	0.94973	0.650000	0.86243	TCT	FAM177A1	-	NULL		0.343	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM177A1	HGNC	protein_coding	OTTHUMT00000410816.1	C	NM_173607		35548163	1	no_errors	ENST00000280987	ensembl	human	known	70_37	missense	SNP	1.000	G	G	35548163	C	G	35548163	3	3	185	1	0	0	0	0	1	0	0	0	5516	913	32	1	451	1	FAM177A1	14	35548163	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1279195	35548163	71801377	1092	35367										
RALGAPA1	253959	genome.wustl.edu	37	chr14	36211632	36211632	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtctgtgacattttcaatgCaagggaggtctgaagaagtg	14	5	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:36211632C>G	ENST00000389698.3	-	11	1781	c.1391G>C	c.(1390-1392)tGc>tCc	p.C464S	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.C464S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.C464S|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.C464S	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	464					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATTTTCAATGCAAGGGAGGTC	0.338																																																	0													37	37	37					14																	36211632		2203	4295	6498	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1391G>C	14.37:g.36211632C>G	ENSP00000374348:p.Cys464Ser		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.C464S	ENST00000389698.3	37	c.1391	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619455	0.28801	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	4.98	4.08	0.47627	.	0.249612	0.44097	D	0.000499	T	0.61223	0.2330	L	0.33485	1.01	0.31019	N	0.718395	B;B;B;B;B	0.21821	0.061;0.006;0.007;0.007;0.001	B;B;B;B;B	0.23275	0.045;0.002;0.013;0.013;0.001	T	0.58962	-0.7543	10	0.31617	T	0.26	-3.0912	8.9239	0.35628	0.0:0.7709:0.1506:0.0786	.	464;464;464;464;464	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	S	464	ENSP00000374348:C464S;ENSP00000302647:C464S;ENSP00000258840:C464S;ENSP00000371803:C464S;ENSP00000451877:C464S	ENSP00000258840:C464S	C	-	2	0	RALGAPA1	35281383	1.000000	0.71417	0.528000	0.27938	0.636000	0.38137	5.961000	0.70356	1.069000	0.40788	0.484000	0.47621	TGC	RALGAPA1	-	NULL		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	C	XM_210022		36211632	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36211632	C	G	36211632	3	3	185	1	0	0	0	0	1	0	0	0	13043	710	25	4	4992	4	RALGAPA1	14	36211632	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	663469	36211632	71137908	1093	35368										
FAM179B	23116	genome.wustl.edu	37	chr14	45432442	45432442	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaggagacagaagaagaatCtgagacagctttctccgcac	10	10	3	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:45432442C>G	ENST00000361577.3	+	1	1032	c.818C>G	c.(817-819)tCt>tGt	p.S273C	FAM179B_ENST00000382233.2_Missense_Mutation_p.S273C|FAM179B_ENST00000361462.2_Missense_Mutation_p.S273C|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	273										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGAAGAATCTGAGACAGCT	0.488																																																	0													86	92	90					14																	45432442		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.818C>G	14.37:g.45432442C>G	ENSP00000355045:p.Ser273Cys		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S273C	ENST00000361577.3	37	c.818	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932000	0.34096	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.65549	1.43;1.43;-0.16	5.05	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.862331	0.09865	N	0.745699	T	0.48572	0.1507	N	0.14661	0.345	0.27774	N	0.943394	P;P;P;P	0.48503	0.755;0.911;0.547;0.547	B;P;B;B	0.46479	0.416;0.518;0.416;0.416	T	0.40664	-0.9551	10	0.72032	D	0.01	-1.4967	6.3333	0.21282	0.0:0.7122:0.1819:0.1059	.	273;273;273;273	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	C	273	ENSP00000355045:S273C;ENSP00000354917:S273C;ENSP00000371668:S273C	ENSP00000354917:S273C	S	+	2	0	FAM179B	44502192	0.190000	0.23276	0.996000	0.52242	0.997000	0.91878	1.616000	0.36933	1.286000	0.44565	0.561000	0.74099	TCT	FAM179B	-	superfamily_ARM-type_fold		0.488	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	C	XM_113781		45432442	1	no_errors	ENST00000361577	ensembl	human	known	70_37	missense	SNP	0.985	G	G	45432442	C	G	45432442	3	3	185	1	0	0	0	0	1	0	0	0	5521	913	32	1	820	1	FAM179B	14	45432442	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	9220810	45432442	61917098	1094	35369										
POLE2	5427	genome.wustl.edu	37	chr14	50154889	50154889	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccccgcaacttgaaggcggaGagcgcccggctccgcagccg	14	17	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:50154889G>A	ENST00000216367.5	-	1	132	c.33C>T	c.(31-33)ctC>ctT	p.L11L	POLE2_ENST00000554396.1_Silent_p.L11L|POLE2_ENST00000539565.2_Silent_p.L11L|POLE2_ENST00000553805.2_Silent_p.L11L|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	11				L -> P (in Ref. 1; AAC51920). {ECO:0000305}.	DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TGAAGGCGGAGAGCGCCCGGC	0.731																																																	0													4	5	4					14																	50154889		2012	4036	6048	SO:0001819	synonymous_variant	5427			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.33C>T	14.37:g.50154889G>A			A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu	p.L11	ENST00000216367.5	37	c.33	CCDS32073.1	14																																																																																			POLE2	-	pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu		0.731	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	HGNC	protein_coding	OTTHUMT00000410512.1	G	NM_002692		50154889	-1	no_errors	ENST00000216367	ensembl	human	known	70_37	silent	SNP	0.006	A	A	50154889	G	A	50154889	2	1	185	1	0	0	0	0	0	0	0	1	12221	929	33	1		1	POLE2	14	50154889	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4722447	50154889	57194651	1095	35370										
SDCCAG1	9147	genome.wustl.edu	37	chr14	50312951	50312951	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acaccaagctgttttgcactGactaatctccgactcttcaa	5	13	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:50312951G>C	ENST00000298310.5	-	4	713	c.264C>G	c.(262-264)gtC>gtG	p.V88V	NEMF_ENST00000545773.1_Intron|AL627171.1_ENST00000358799.1_5'Flank|NEMF_ENST00000546046.1_Silent_p.V88V|NEMF_ENST00000556672.1_Silent_p.V88V			O60524	NEMF_HUMAN	nuclear export mediator factor	88					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GTTTTGCACTGACTAATCTCC	0.353																																																	0													107	102	104					14																	50312951		2203	4300	6503	SO:0001819	synonymous_variant	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.264C>G	14.37:g.50312951G>C			A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.V88	ENST00000298310.5	37	c.264	CCDS9694.1	14																																																																																			NEMF	-	pfam_Fibro-bd_N		0.353	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	G	NM_004713		50312951	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	silent	SNP	1.000	C	C	50312951	G	C	50312951	2	2	185	1	0	0	0	0	0	0	0	1	13987	1277	45	1		1	SDCCAG1	14	50312951	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	158062	50312951	57036589	1096	35371										
TRIM9	114088	genome.wustl.edu	37	chr14	51467466	51467466	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcggcgggcaccgtggacaGaggtggctgtttccaggaca	16	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:51467466G>C	ENST00000298355.3	-	6	2520	c.1399C>G	c.(1399-1401)Ctg>Gtg	p.L467V	TRIM9_ENST00000360392.4_Missense_Mutation_p.L467V|TRIM9_ENST00000338969.5_Missense_Mutation_p.L463V	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	467	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACCGTGGACAGAGGTGGCTGT	0.542																																																	0													113	98	103					14																	51467466		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1399C>G	14.37:g.51467466G>C	ENSP00000298355:p.Leu467Val		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.L463V	ENST00000298355.3	37	c.1387	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352291	0.24512	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.55930	1.56;0.49;1.56	5.6	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061565	0.64402	D	0.000004	T	0.34542	0.0901	N	0.19112	0.55	0.39632	D	0.970187	B;B;B	0.21309	0.0;0.054;0.001	B;B;B	0.25506	0.002;0.061;0.009	T	0.19031	-1.0318	10	0.29301	T	0.29	.	7.9536	0.30029	0.129:0.0:0.7185:0.1525	.	467;463;467	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	V	467;463;467	ENSP00000298355:L467V;ENSP00000342970:L463V;ENSP00000353561:L467V	ENSP00000298355:L467V	L	-	1	2	TRIM9	50537216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.728000	0.54991	2.648000	0.89879	0.591000	0.81541	CTG	TRIM9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.542	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	G	NM_015163		51467466	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	C	C	51467466	G	C	51467466	3	2	185	1	0	0	0	0	1	0	0	0	16580	933	33	1	803	1	TRIM9	14	51467466	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1154515	51467466	55882074	1097	35372										
KTN1	3895	genome.wustl.edu	37	chr14	56103923	56103923	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgttttattacagatttacaGagtaaatttgtggccaaaga	8	4	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:56103923G>A	ENST00000395314.3	+	11	1625	c.1557G>A	c.(1555-1557)caG>caA	p.Q519Q	KTN1_ENST00000413890.2_Silent_p.Q519Q|KTN1_ENST00000395308.1_Silent_p.Q519Q|KTN1_ENST00000416613.1_Silent_p.Q519Q|KTN1_ENST00000438792.2_Silent_p.Q519Q|KTN1_ENST00000395311.1_Silent_p.Q519Q|KTN1_ENST00000395309.3_Silent_p.Q519Q	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	519					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CAGATTTACAGAGTAAATTTG	0.363			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													66	68	67					14																	56103923		2201	4299	6500	SO:0001819	synonymous_variant	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1557G>A	14.37:g.56103923G>A			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	NULL	p.Q519	ENST00000395314.3	37	c.1557	CCDS41957.1	14																																																																																			KTN1	-	NULL		0.363	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56103923	1	no_errors	ENST00000395309	ensembl	human	known	70_37	silent	SNP	1.000	A	A	56103923	G	A	56103923	2	1	185	1	0	0	0	0	0	0	0	1	8605	933	33	1		1	KTN1	14	56103923	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4636457	56103923	51245617	1098	35373										
KTN1	3895	genome.wustl.edu	37	chr14	56103978	56103978	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtctgcatagtaagcttacaGataccttggtatcaaaacaa	7	8	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:56103978G>C	ENST00000395314.3	+	11	1680	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	KTN1_ENST00000413890.2_Missense_Mutation_p.D538H|KTN1_ENST00000395308.1_Missense_Mutation_p.D538H|KTN1_ENST00000416613.1_Missense_Mutation_p.D538H|KTN1_ENST00000438792.2_Missense_Mutation_p.D538H|KTN1_ENST00000395311.1_Missense_Mutation_p.D538H|KTN1_ENST00000395309.3_Missense_Mutation_p.D538H	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	538					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TAAGCTTACAGATACCTTGGT	0.358			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													106	108	107					14																	56103978		2202	4300	6502	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1612G>C	14.37:g.56103978G>C	ENSP00000378725:p.Asp538His		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.D538H	ENST00000395314.3	37	c.1612	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711428	0.68730	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.35	4.46	0.54185	.	0.134891	0.33772	N	0.004568	T	0.74680	0.3748	L	0.59436	1.845	0.43164	D	0.994954	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.75439	-0.3317	10	0.44086	T	0.13	-14.2814	14.0779	0.64903	0.0728:0.0:0.9272:0.0	.	538;538;538;538	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	H	538	ENSP00000394992:D538H;ENSP00000378720:D538H;ENSP00000391964:D538H;ENSP00000378725:D538H;ENSP00000378719:D538H;ENSP00000378722:D538H;ENSP00000388807:D538H	ENSP00000378719:D538H	D	+	1	0	KTN1	55173731	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.790000	0.85794	1.385000	0.46445	0.609000	0.83330	GAT	KTN1	-	NULL		0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56103978	1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	1.000	C	C	56103978	G	C	56103978	3	2	185	1	0	0	0	0	1	0	0	0	8605	942	33	1	1650	1	KTN1	14	56103978	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	55	56103978	51245562	1099	35374										
ARID4A	5926	genome.wustl.edu	37	chr14	58768399	58768399	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagactgtgaaaaggctggtGaaagttaaggtaatatttgt	12	2	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:58768399G>A	ENST00000355431.3	+	3	481	c.108G>A	c.(106-108)gtG>gtA	p.V36V	ARID4A_ENST00000431317.2_Silent_p.V36V|ARID4A_ENST00000348476.3_Silent_p.V36V|ARID4A_ENST00000395168.3_Silent_p.V36V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	36					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGGCTGGTGAAAGTTAAGG	0.418																																																	0													74	71	72					14																	58768399		2203	4300	6503	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.108G>A	14.37:g.58768399G>A			Q15991|Q15992|Q15993	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.V36	ENST00000355431.3	37	c.108	CCDS9732.1	14																																																																																			ARID4A	-	NULL		0.418	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58768399	1	no_errors	ENST00000355431	ensembl	human	known	70_37	silent	SNP	1.000	A	A	58768399	G	A	58768399	2	1	185	1	0	0	0	0	0	0	0	1	919	1277	45	1		1	ARID4A	14	58768399	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2664421	58768399	48581141	1100	35375										
ARID4A	5926	genome.wustl.edu	37	chr14	58831712	58831712	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tagatttggatgatttggatGaaaaggataagaccagcatt	11	3	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:58831712G>A	ENST00000355431.3	+	20	3278	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	ARID4A_ENST00000431317.2_Missense_Mutation_p.E969K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E969K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E969K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	969					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGATTTGGATGAAAAGGATAA	0.418																																																	0													156	151	152					14																	58831712		2203	4300	6503	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2905G>A	14.37:g.58831712G>A	ENSP00000347602:p.Glu969Lys		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.E969K	ENST00000355431.3	37	c.2905	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985079	0.74474	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.30182	1.95;1.8;1.78;1.8;1.54	5.16	5.16	0.70880	.	0.111045	0.64402	D	0.000012	T	0.42359	0.1199	M	0.63843	1.955	0.58432	D	0.999999	P;P;P	0.49559	0.925;0.682;0.787	P;B;B	0.47162	0.54;0.197;0.359	T	0.43669	-0.9377	10	0.87932	D	0	-20.0919	18.8307	0.92137	0.0:0.0:1.0:0.0	.	969;969;969	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	K	969;969;969;969;647	ENSP00000347602:E969K;ENSP00000344556:E969K;ENSP00000378597:E969K;ENSP00000397368:E969K;ENSP00000416053:E647K	ENSP00000344556:E969K	E	+	1	0	ARID4A	57901465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.664000	0.91139	2.687000	0.91594	0.557000	0.71058	GAA	ARID4A	-	NULL		0.418	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58831712	1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58831712	G	A	58831712	3	1	185	1	0	0	0	0	1	0	0	0	919	1291	45	1	2979	1	ARID4A	14	58831712	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	63313	58831712	48517828	1101	35376										
SNAPC1	6617	genome.wustl.edu	37	chr14	62248994	62248994	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaagaaggcatcgtcaagtCaaactcgactcttctgactc	7	12	5	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:62248994C>G	ENST00000216294.4	+	8	959	c.855C>G	c.(853-855)gtC>gtG	p.V285V		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	285					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATCGTCAAGTCAAACTCGACT	0.368																																					NSCLC(27;223 907 37180 39193 46568)												0													98	93	95					14																	62248994		2203	4300	6503	SO:0001819	synonymous_variant	6617			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"small nuclear RNA activating complex, polypeptide 1, 43kD"			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.855C>G	14.37:g.62248994C>G				Silent	SNP	pfam_SNAPc_SNAP43	p.V285	ENST00000216294.4	37	c.855	CCDS9755.1	14																																																																																			SNAPC1	-	NULL		0.368	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC1	HGNC	protein_coding	OTTHUMT00000276976.2	C	NM_003082		62248994	1	no_errors	ENST00000216294	ensembl	human	known	70_37	silent	SNP	0.196	G	G	62248994	C	G	62248994	2	3	185	1	0	0	0	0	0	0	0	1	14864	813	29	1		1	SNAPC1	14	62248994	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3417282	62248994	45100546	1102	35377										
KCNH5	27133	genome.wustl.edu	37	chr14	63246617	63246617	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agggtggtttccttccagaaGatgtctccaaatacatcacc	8	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:63246617G>A	ENST00000322893.7	-	10	2116	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	KCNH5_ENST00000394968.1_Silent_p.I558I|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	616					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCTTCCAGAAGATGTCTCCAA	0.433																																																	0													87	74	78					14																	63246617		2203	4300	6503	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1848C>T	14.37:g.63246617G>A			C9JP98	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.I616	ENST00000322893.7	37	c.1848	CCDS9756.1	14																																																																																			KCNH5	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom		0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	G	NM_139318		63246617	-1	no_errors	ENST00000322893	ensembl	human	known	70_37	silent	SNP	0.997	A	A	63246617	G	A	63246617	2	1	185	1	0	0	0	0	0	0	0	1	8055	932	33	1		1	KCNH5	14	63246617	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	997623	63246617	44102923	1103	35378										
SYNE2	23224	genome.wustl.edu	37	chr14	64473795	64473795	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagactggataaggttctaGatgaatatgaagaagagaag	12	3	2	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64473795G>A	ENST00000344113.4	+	31	4644	c.4432G>A	c.(4432-4434)Gat>Aat	p.D1478N	SYNE2_ENST00000358025.3_Missense_Mutation_p.D1478N|SYNE2_ENST00000357395.3_De_novo_Start_OutOfFrame|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1478N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1478					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAGGTTCTAGATGAATATGA	0.338																																																	0													131	122	125					14																	64473795		1827	4089	5916	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4432G>A	14.37:g.64473795G>A	ENSP00000341781:p.Asp1478Asn		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D1478N	ENST00000344113.4	37	c.4432	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349518	0.61183	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55052	0.94;0.94;0.54	5.62	4.72	0.59763	.	0.000000	0.64402	D	0.000019	T	0.49813	0.1579	L	0.55481	1.735	0.80722	D	1	P;P	0.46142	0.8;0.873	B;B	0.42959	0.227;0.403	T	0.54543	-0.8278	10	0.56958	D	0.05	.	12.2422	0.54549	0.0783:0.0:0.9217:0.0	.	1478;1478	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	1478	ENSP00000350719:D1478N;ENSP00000341781:D1478N;ENSP00000452570:D1478N	ENSP00000261678:D1478N	D	+	1	0	SYNE2	63543548	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	2.595000	0.46197	2.628000	0.89032	0.655000	0.94253	GAT	SYNE2	-	smart_Spectrin/alpha-actinin		0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64473795	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.997	A	A	64473795	G	A	64473795	3	1	185	1	0	0	0	0	1	0	0	0	15476	942	33	1	4550	1	SYNE2	14	64473795	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1227178	64473795	42875745	1104	35379										
SYNE2	23224	genome.wustl.edu	37	chr14	64473815	64473815	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatgaatatgaagaagagaaGagacatttacaagaaatggc	11	3	0	6			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64473815G>C	ENST00000344113.4	+	31	4664	c.4452G>C	c.(4450-4452)aaG>aaC	p.K1484N	SYNE2_ENST00000358025.3_Missense_Mutation_p.K1484N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.K1484N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1484					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGAAGAGAAGAGACATTTAC	0.348																																																	0													156	146	149					14																	64473815		1831	4093	5924	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4452G>C	14.37:g.64473815G>C	ENSP00000341781:p.Lys1484Asn		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K1484N	ENST00000344113.4	37	c.4452	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	12.12	1.844067	0.32606	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58652	0.68;0.68;0.32	5.62	3.56	0.40772	.	0.425071	0.21880	N	0.067760	T	0.59662	0.2210	L	0.50333	1.59	0.51767	D	0.999938	D;D	0.59357	0.974;0.985	P;P	0.52957	0.521;0.714	T	0.61893	-0.6969	10	0.62326	D	0.03	.	9.4745	0.38862	0.2139:0.0:0.7861:0.0	.	1484;1484	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	1484	ENSP00000350719:K1484N;ENSP00000341781:K1484N;ENSP00000452570:K1484N	ENSP00000261678:K1484N	K	+	3	2	SYNE2	63543568	0.962000	0.33011	0.886000	0.34754	0.669000	0.39330	1.448000	0.35112	1.362000	0.46000	0.655000	0.94253	AAG	SYNE2	-	smart_Spectrin/alpha-actinin		0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64473815	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.705	C	C	64473815	G	C	64473815	3	2	185	1	0	0	0	0	1	0	0	0	15476	933	33	1	4570	1	SYNE2	14	64473815	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	20	64473815	42875725	1105	35380										
SYNE2	23224	genome.wustl.edu	37	chr14	64542813	64542813	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagctttagaagacatagatGagaaggtaataataatgtct	9	3	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64542813G>A	ENST00000344113.4	+	54	11229	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	SYNE2_ENST00000555002.1_Missense_Mutation_p.E307K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3673K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E35K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E35K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3706K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3673					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGACATAGATGAGAAGGTAAT	0.368																																																	0													67	65	66					14																	64542813		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11017G>A	14.37:g.64542813G>A	ENSP00000341781:p.Glu3673Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E3673K	ENST00000344113.4	37	c.11017	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708529	0.68615	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.61392	0.46;3.82;0.46;0.11;3.81;3.82	5.76	5.76	0.90799	.	0.087960	0.49305	D	0.000143	T	0.68851	0.3046	L	0.32530	0.975	0.44117	D	0.996897	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.74674	0.979;0.984;0.965;0.984	T	0.67719	-0.5598	10	0.51188	T	0.08	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	35;3707;3673;3673	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	3673;35;3673;3706;3706;307;35	ENSP00000350719:E3673K;ENSP00000349969:E35K;ENSP00000341781:E3673K;ENSP00000452570:E3706K;ENSP00000450831:E307K;ENSP00000378249:E35K	ENSP00000261678:E3706K	E	+	1	0	SYNE2	63612566	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	7.098000	0.76974	2.871000	0.98454	0.655000	0.94253	GAG	SYNE2	-	NULL		0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64542813	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64542813	G	A	64542813	3	1	185	1	0	0	0	0	1	0	0	0	15476	1291	45	1	11227	1	SYNE2	14	64542813	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	68998	64542813	42806727	1106	35381										
SYNE2	23224	genome.wustl.edu	37	chr14	64653259	64653259	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggttttgaaggagcaaataGagcatttgcacagacaatgg	12	5	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64653259G>C	ENST00000344113.4	+	97	17886	c.17674G>C	c.(17674-17676)Gag>Cag	p.E5892Q	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2526Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5892Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2277Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2277Q|SYNE2_ENST00000554584.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5892					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAGCAAATAGAGCATTTGCA	0.493																																																	0													130	124	126					14																	64653259		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17674G>C	14.37:g.64653259G>C	ENSP00000341781:p.Glu5892Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E5892Q	ENST00000344113.4	37	c.17674	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466130	0.43839	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.87	3.96	0.45880	.	0.249386	0.27518	N	0.019018	T	0.33614	0.0869	L	0.33245	0.995	0.80722	D	1	P;B;B;P	0.42941	0.794;0.044;0.165;0.622	B;B;B;B	0.44224	0.444;0.031;0.066;0.406	T	0.02121	-1.1210	10	0.27785	T	0.31	.	16.3081	0.82856	0.0:0.3741:0.6259:0.0	.	2277;280;5892;5892	Q8WXH0-7;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	Q	5892;2277;5892;2526;2277	ENSP00000350719:E5892Q;ENSP00000349969:E2277Q;ENSP00000341781:E5892Q;ENSP00000450831:E2526Q;ENSP00000378249:E2277Q	ENSP00000341781:E5892Q	E	+	1	0	SYNE2	63723012	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	4.436000	0.59948	0.748000	0.32831	0.650000	0.86243	GAG	SYNE2	-	smart_Spectrin/alpha-actinin		0.493	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64653259	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.909	C	C	64653259	G	C	64653259	3	2	185	1	0	0	0	0	1	0	0	0	15476	943	33	1	18056	1	SYNE2	14	64653259	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	110446	64653259	42696281	1107	35382										
ZBTB1	22890	genome.wustl.edu	37	chr14	64990313	64990313	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtggagcaaaatttaatttGaggaaagatatgagatcaca	10	3	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:64990313G>C	ENST00000554015.1	+	4	2522	c.2091G>C	c.(2089-2091)ttG>ttC	p.L697F	ZBTB1_ENST00000394712.2_Missense_Mutation_p.L697F|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Intron			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	697					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AATTTAATTTGAGGAAAGATA	0.353																																																	0													100	80	86					14																	64990313		692	1591	2283	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.2091G>C	14.37:g.64990313G>C	ENSP00000451000:p.Leu697Phe		A8K6S8|Q86SW8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L697F	ENST00000554015.1	37	c.2091	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936942	0.34189	.	.	ENSG00000126804	ENST00000554015;ENST00000394712	T;T	0.15603	2.41;2.41	5.66	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.47284	0.1437	M	0.87381	2.88	0.46774	D	0.999194	D	0.76494	0.999	D	0.91635	0.999	T	0.52426	-0.8577	8	.	.	.	-9.1369	15.5415	0.76052	0.077:0.0:0.923:0.0	.	697	Q9Y2K1	ZBTB1_HUMAN	F	697	ENSP00000451000:L697F;ENSP00000378201:L697F	.	L	+	3	2	ZBTB1	64060066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.234000	0.51320	2.688000	0.91661	0.650000	0.86243	TTG	ZBTB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	G			64990313	1	no_errors	ENST00000394712	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64990313	G	C	64990313	3	2	185	1	0	0	0	0	1	0	0	0	17552	1281	45	1	2093	1	ZBTB1	14	64990313	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	337054	64990313	42359227	1108	35383										
SPTB	6710	genome.wustl.edu	37	chr14	65259917	65259917	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcccgcagggcctgcagccGatgggtcacatctggggaat	14	13	2	0	rs201338747		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:65259917G>T	ENST00000389721.5	-	13	2496	c.2464C>A	c.(2464-2466)Cgg>Agg	p.R822R	SPTB_ENST00000389720.3_Silent_p.R822R|SPTB_ENST00000556626.1_Silent_p.R822R|SPTB_ENST00000389722.3_Silent_p.R822R|SPTB_ENST00000542895.1_Silent_p.R822R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	822					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCTGCAGCCGATGGGTCACA	0.657																																																	0													45	50	48					14																	65259917		2203	4300	6503	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2464C>A	14.37:g.65259917G>T			Q15510|Q15519	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R822	ENST00000389721.5	37	c.2464	CCDS32100.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.657	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	G			65259917	-1	no_errors	ENST00000389722	ensembl	human	known	70_37	silent	SNP	1.000	T	T	65259917	G	T	65259917	2	4	185	1	0	0	0	0	0	0	0	1	15148	1057	37	3		3	SPTB	14	65259917	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	269604	65259917	42089623	1109	35384										
MAX	4149	genome.wustl.edu	37	chr14	65543311	65543311	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgcccttggcgttggtgtaGaggctgttgtctgaggaggg	18	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:65543311G>T	ENST00000358664.4	-	5	496	c.366C>A	c.(364-366)ctC>ctA	p.L122L	MAX_ENST00000284165.6_3'UTR|MAX_ENST00000555419.1_Silent_p.L86L|MAX_ENST00000358402.4_Silent_p.L113L|MAX_ENST00000557277.1_Silent_p.L59L|MAX_ENST00000341653.2_Intron|MAX_ENST00000555932.1_Missense_Mutation_p.S36Y	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	122					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CGTTGGTGTAGAGGCTGTTGT	0.582																																																	0													205	197	199					14																	65543311		2203	4300	6503	SO:0001819	synonymous_variant	4149				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.366C>A	14.37:g.65543311G>T			A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	NULL	p.S36Y	ENST00000358664.4	37	c.107	CCDS9771.1	14	.	.	.	.	.	.	.	.	.	.	G	10.44	1.352039	0.24512	.	.	ENSG00000125952	ENST00000555932	.	.	.	5.93	4.99	0.66335	.	.	.	.	.	T	0.72859	0.3513	.	.	.	0.80722	D	1	D	0.59767	0.986	P	0.59487	0.858	T	0.72232	-0.4353	6	.	.	.	-1.4566	13.8607	0.63559	0.0:0.153:0.847:0.0	.	36	G3V2N4	.	Y	36	.	.	S	-	2	0	MAX	64613064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.710000	0.25748	2.814000	0.96858	0.591000	0.81541	TCT	MAX	-	NULL		0.582	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	HGNC	protein_coding	OTTHUMT00000286386.1	G	NM_197957		65543311	-1	no_errors	ENST00000555932	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	65543311	G	T	65543311	2	4	185	1	0	0	0	0	0	0	0	1	9362	929	33	3		3	MAX	14	65543311	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	283394	65543311	41806229	1110	35385										
FUT8	2530	genome.wustl.edu	37	chr14	66188690	66188690	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacagccttggctagaaaaaGaaatagaagaagccaccaag	9	9	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:66188690G>C	ENST00000360689.5	+	8	2760	c.1033G>C	c.(1033-1035)Gaa>Caa	p.E345Q	FUT8_ENST00000417683.1_Intron|FUT8_ENST00000557164.1_Missense_Mutation_p.E182Q|FUT8_ENST00000394586.2_Missense_Mutation_p.E345Q|FUT8_ENST00000394585.1_Missense_Mutation_p.E345Q|FUT8_ENST00000358307.2_Missense_Mutation_p.E216Q	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	345	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.E345*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCTAGAAAAAGAAATAGAAGA	0.448																																																	2	Substitution - Nonsense(2)	large_intestine(2)											84	83	83					14																	66188690		2203	4300	6503	SO:0001583	missense	2530			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1033G>C	14.37:g.66188690G>C	ENSP00000353910:p.Glu345Gln		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.E345Q	ENST00000360689.5	37	c.1033	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501247	0.44455	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	L	0.55743	1.74	0.80722	D	1	P;P	0.39131	0.661;0.539	B;B	0.36186	0.059;0.219	T	0.03493	-1.1031	10	0.12766	T	0.61	-19.5966	17.2877	0.87146	0.0:0.0:1.0:0.0	.	216;345	G3XAD2;Q9BYC5	.;FUT8_HUMAN	Q	345;345;182;345;216	ENSP00000353910:E345Q;ENSP00000378087:E345Q;ENSP00000452433:E182Q;ENSP00000378086:E345Q;ENSP00000351057:E216Q	ENSP00000351057:E216Q	E	+	1	0	FUT8	65258443	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.668000	0.90789	0.563000	0.77884	GAA	FUT8	-	pirsf_Alpha1_6FUT_euk		0.448	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	G	NM_004480		66188690	1	no_errors	ENST00000360689	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66188690	G	C	66188690	3	2	185	1	0	0	0	0	1	0	0	0	6128	943	33	1	1154	1	FUT8	14	66188690	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	645379	66188690	41160850	1111	35386										
EXD2	55218	genome.wustl.edu	37	chr14	69707600	69707600	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgtttttcatgttttggcaGaatctccaatgaaaactatg	7	6	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:69707600G>C	ENST00000409018.3	+	9	1777		c.e9-1		EXD2_ENST00000492815.1_Splice_Site|EXD2_ENST00000409242.1_Splice_Site|EXD2_ENST00000409014.1_Splice_Site|EXD2_ENST00000409949.1_Splice_Site|EXD2_ENST00000449989.1_Splice_Site|EXD2_ENST00000312994.5_Splice_Site|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409675.1_Splice_Site	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2								3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TGTTTTGGCAGAATCTCCAAT	0.552																																																	0													38	38	38					14																	69707600		2203	4300	6503	SO:0001630	splice_region_variant	55218			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1650-1G>C	14.37:g.69707600G>C			B4DIH6|G5E947|Q6AWB6|Q8N3D3	Splice_Site	SNP	-	e8-1	ENST00000409018.3	37	c.1650-1	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662341	0.67700	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EXD2	68777353	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	9.481000	0.97933	2.826000	0.97356	0.655000	0.94253	.	EXD2	-	-		0.552	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	G		Intron	69707600	1	no_errors	ENST00000312994	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	69707600	G	C	69707600	5	2	185	1	0	0	0	0	0	0	1	0	5310	956	33	1	1300	1	EXD2	14	69707600	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3518910	69707600	37641940	1112	35387										
PCNX	22990	genome.wustl.edu	37	chr14	71568837	71568837	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagtgcagtacttgccaactCtccctccttgcttgctctgc	8	15	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:71568837C>G	ENST00000304743.2	+	31	6166	c.5720C>G	c.(5719-5721)tCt>tGt	p.S1907C	PCNX_ENST00000439984.3_Missense_Mutation_p.S1796C|PCNX_ENST00000238570.5_Missense_Mutation_p.S1835C|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1907						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTGCCAACTCTCCCTCCTTG	0.488																																																	0													118	113	115					14																	71568837		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5720C>G	14.37:g.71568837C>G	ENSP00000304192:p.Ser1907Cys		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.S1907C	ENST00000304743.2	37	c.5720	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.972950|3.972950	0.74246|0.74246	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.44881	.|0.91;0.91;0.91	5.56|5.56	4.64|4.64	0.57946|0.57946	.|.	.|0.107270	.|0.64402	.|D	.|0.000003	T|T	0.48409|0.48409	0.1498|0.1498	N|N	0.19112|0.19112	0.55|0.55	0.25506|0.25506	N|N	0.987503|0.987503	.|D;D;D	.|0.71674	.|0.989;0.995;0.998	.|P;D;P	.|0.67231	.|0.723;0.95;0.903	T|T	0.44360|0.44360	-0.9333|-0.9333	5|10	.|0.66056	.|D	.|0.02	.|.	15.8479|15.8479	0.78905|0.78905	0.1361:0.8639:0.0:0.0|0.1361:0.8639:0.0:0.0	.|.	.|1835;1796;1907	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|C	894|1907;1835;1796	.|ENSP00000304192:S1907C;ENSP00000238570:S1835C;ENSP00000396617:S1796C	.|ENSP00000238570:S1835C	L|S	+|+	1|2	0|0	PCNX|PCNX	70638590|70638590	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.914000|0.914000	0.54420|0.54420	5.721000|5.721000	0.68477|0.68477	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CTC|TCT	PCNX	-	pfam_Pecanex		0.488	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	C	NM_014982		71568837	1	no_errors	ENST00000304743	ensembl	human	known	70_37	missense	SNP	0.997	G	G	71568837	C	G	71568837	3	3	185	1	0	0	0	0	1	0	0	0	11615	913	32	1	5842	1	PCNX	14	71568837	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1861237	71568837	35780703	1113	35388										
SIPA1L1	26037	genome.wustl.edu	37	chr14	72169169	72169169	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtcagatattggtggcagcgGaaaatccacgcctagctggc	13	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:72169169G>C	ENST00000555818.1	+	12	3941	c.3593G>C	c.(3592-3594)gGa>gCa	p.G1198A	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G1198A|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G1198A|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.G673A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1198					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGTGGCAGCGGAAAATCCACG	0.478																																																	0													124	106	112					14																	72169169		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3593G>C	14.37:g.72169169G>C	ENSP00000450832:p.Gly1198Ala		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.G1198A	ENST00000555818.1	37	c.3593	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673290	0.29693	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.02	5.11	0.69529	.	0.164355	0.53938	N	0.000051	T	0.51856	0.1699	L	0.56769	1.78	0.58432	D	0.999991	B;B;B;B;B	0.31274	0.317;0.023;0.212;0.317;0.023	B;B;B;B;B	0.33454	0.164;0.017;0.05;0.107;0.017	T	0.50583	-0.8811	10	0.38643	T	0.18	-16.2315	15.5504	0.76148	0.0:0.1372:0.8628:0.0	.	673;1198;673;1198;1198	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	A	1198;1198;1198;673	ENSP00000370630:G1198A;ENSP00000450832:G1198A;ENSP00000351352:G1198A;ENSP00000440682:G673A	ENSP00000351352:G1198A	G	+	2	0	SIPA1L1	71238922	1.000000	0.71417	0.988000	0.46212	0.046000	0.14306	6.430000	0.73391	1.506000	0.48736	0.650000	0.86243	GGA	SIPA1L1	-	NULL		0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72169169	1	no_errors	ENST00000555818	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72169169	G	C	72169169	3	2	185	1	0	0	0	0	1	0	0	0	14359	1174	41	1	3635	1	SIPA1L1	14	72169169	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	600332	72169169	35180371	1114	35389										
ZFYVE1	53349	genome.wustl.edu	37	chr14	73490808	73490808	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttcttcctcttggtctcctCatccatctcttctgcctcca	3	18	6	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:73490808C>G	ENST00000556143.1	-	2	1129	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.E137Q|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.E137Q	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	137					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.E137K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTGGTCTCCTCATCCATCTCT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											212	222	218					14																	73490808		2203	4300	6503	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.409G>C	14.37:g.73490808C>G	ENSP00000450742:p.Glu137Gln		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E137Q	ENST00000556143.1	37	c.409	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268354	0.40095	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.64991	-0.13;-0.13;-0.13	5.68	5.68	0.88126	.	0.256872	0.38492	N	0.001666	T	0.44074	0.1276	N	0.14661	0.345	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.31971	-0.9924	10	0.27082	T	0.32	-32.9689	12.7278	0.57180	0.0:0.9243:0.0:0.0757	.	137;137	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	Q	137	ENSP00000452442:E137Q;ENSP00000326921:E137Q;ENSP00000450742:E137Q	ENSP00000326921:E137Q	E	-	1	0	ZFYVE1	72560561	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.609000	0.36858	2.695000	0.91970	0.650000	0.86243	GAG	ZFYVE1	-	superfamily_Growth_fac_rcpt		0.463	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	C	NM_021260		73490808	-1	no_errors	ENST00000553891	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73490808	C	G	73490808	3	3	185	1	0	0	0	0	1	0	0	0	17693	835	29	1	1968	1	ZFYVE1	14	73490808	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1321639	73490808	33858732	1115	35390										
ZNF410	57862	genome.wustl.edu	37	chr14	74388869	74388869	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agccttggtggagagtccttGaacctaccaaataccaattc	8	11	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:74388869G>C	ENST00000555044.1	+	10	1424	c.1230G>C	c.(1228-1230)ttG>ttC	p.L410F	ZNF410_ENST00000334521.4_Missense_Mutation_p.L357F|RP5-1021I20.4_ENST00000556551.2_3'UTR|RP5-1021I20.5_ENST00000555916.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.L337F|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000324593.6_Intron|ZNF410_ENST00000442160.3_Missense_Mutation_p.L427F	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GAGAGTCCTTGAACCTACCAA	0.463																																																	0													88	76	80					14																	74388869		2203	4300	6503	SO:0001583	missense	57862			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.1230G>C	14.37:g.74388869G>C	ENSP00000451763:p.Leu410Phe		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L410F	ENST00000555044.1	37	c.1230	CCDS9821.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.74|17.74	3.463105|3.463105	0.63513|0.63513	.|.	.|.	ENSG00000119725|ENSG00000119725	ENST00000557214|ENST00000540593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556179	.|T;T;T;T	.|0.10192	.|2.93;2.94;2.95;2.9	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.35207	.|N	.|0.003374	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.998;0.995;0.998;0.999;0.998	.|D;D;D;D;D	.|0.80764	.|0.991;0.979;0.986;0.994;0.986	T|T	0.10965|0.10965	-1.0607|-1.0607	5|10	.|0.59425	.|D	.|0.04	.|.	11.5918|11.5918	0.50949|0.50949	0.0836:0.0:0.9164:0.0|0.0836:0.0:0.9164:0.0	.|.	.|410;337;427;399;410	.|B2RCP6;B4DR78;B4DDV5;B4DPE9;Q86VK4	.|.;.;.;.;ZN410_HUMAN	Q|F	71|337;399;427;410;357;53	.|ENSP00000442228:L337F;ENSP00000407130:L427F;ENSP00000451763:L410F;ENSP00000334170:L357F	.|ENSP00000334170:L410F	E|L	+|+	1|3	0|2	ZNF410|ZNF410	73458622|73458622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.384000|4.384000	0.59607|0.59607	2.753000|2.753000	0.94483|0.94483	0.585000|0.585000	0.79938|0.79938	GAA|TTG	ZNF410	-	NULL		0.463	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	G	NM_021188		74388869	1	no_errors	ENST00000555044	ensembl	human	known	70_37	missense	SNP	1.000	C	C	74388869	G	C	74388869	3	2	185	1	0	0	0	0	1	0	0	0	17920	1281	45	1	1264	1	ZNF410	14	74388869	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	898061	74388869	32960671	1116	35391										
FAM161B	145483	genome.wustl.edu	37	chr14	74409175	74409175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagtggcctcttgggtttctCttcttttggctgctcttctc	10	11	5	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:74409175C>G	ENST00000534936.1	-	4	1274	c.1169G>C	c.(1168-1170)aGa>aCa	p.R390T	FAM161B_ENST00000286544.3_Missense_Mutation_p.R453T			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	390										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TTGGGTTTCTCTTCTTTTGGC	0.572																																																	0													158	144	149					14																	74409175		2203	4300	6503	SO:0001583	missense	145483			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1169G>C	14.37:g.74409175C>G	ENSP00000445326:p.Arg390Thr		B7Z882|J3KNA2	Missense_Mutation	SNP	pfam_UPF0564	p.R453T	ENST00000534936.1	37	c.1358		14	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709242	0.48517	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.25579	1.79;1.79	5.5	2.59	0.31030	.	0.393342	0.26217	N	0.025655	T	0.24275	0.0588	L	0.53729	1.69	0.09310	N	1	P	0.43788	0.817	P	0.44673	0.457	T	0.10776	-1.0615	10	0.48119	T	0.1	-14.2624	4.1385	0.10183	0.2744:0.483:0.0:0.2426	.	390	Q96MY7	F161B_HUMAN	T	453;390	ENSP00000286544:R453T;ENSP00000445326:R390T	ENSP00000286544:R453T	R	-	2	0	FAM161B	73478928	0.974000	0.33945	0.989000	0.46669	0.971000	0.66376	0.673000	0.25203	0.382000	0.24878	0.655000	0.94253	AGA	FAM161B	-	pfam_UPF0564		0.572	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	FAM161B	HGNC	protein_coding		C	NM_152445		74409175	-1	no_errors	ENST00000286544	ensembl	human	known	70_37	missense	SNP	0.012	G	G	74409175	C	G	74409175	3	3	185	1	0	0	0	0	1	0	0	0	5488	913	32	1	798	1	FAM161B	14	74409175	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	20306	74409175	32940365	1117	35392										
C14orf115	55237	genome.wustl.edu	37	chr14	74823763	74823763	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgttcgaggcggccagcatgCtgctgtggggtgacgcaggc	18	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:74823763C>G	ENST00000256362.4	+	2	518	c.277C>G	c.(277-279)Ctg>Gtg	p.L93V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	93					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCCAGCATGCTGCTGTGGGG	0.647																																																	0													49	45	46					14																	74823763		2203	4299	6502	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.277C>G	14.37:g.74823763C>G	ENSP00000256362:p.Leu93Val		Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.L93V	ENST00000256362.4	37	c.277	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107610	0.56291	.	.	ENSG00000133980	ENST00000256362	T	0.45276	0.9	4.91	1.87	0.25490	.	0.000000	0.52532	D	0.000072	T	0.45377	0.1339	N	0.24115	0.695	0.38904	D	0.95739	D	0.76494	0.999	D	0.80764	0.994	T	0.47935	-0.9078	10	0.87932	D	0	-3.6468	9.2036	0.37275	0.0:0.7378:0.0:0.2622	.	93	Q9H8Y1	VRTN_HUMAN	V	93	ENSP00000256362:L93V	ENSP00000256362:L93V	L	+	1	2	VRTN	73893516	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.063000	0.41423	0.663000	0.31027	0.561000	0.74099	CTG	VRTN	-	NULL		0.647	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	C	NM_018228		74823763	1	no_errors	ENST00000256362	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74823763	C	G	74823763	3	3	185	1	0	0	0	0	1	0	0	0	1744	796	28	4	279	4	C14orf115	14	74823763	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	414588	74823763	32525777	1118	35393										
NEK9	91754	genome.wustl.edu	37	chr14	75567840	75567840	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacttgttgcagccaaaggtCagcagccggcctcgctctga	11	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:75567840C>T	ENST00000238616.5	-	16	2015	c.1857G>A	c.(1855-1857)ctG>ctA	p.L619L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	619					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AGCCAAAGGTCAGCAGCCGGC	0.532																																																	0													33	34	34					14																	75567840		2203	4300	6503	SO:0001819	synonymous_variant	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1857G>A	14.37:g.75567840C>T			Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L619	ENST00000238616.5	37	c.1857	CCDS9839.1	14																																																																																			NEK9	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.532	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	C	NM_033116		75567840	-1	no_errors	ENST00000238616	ensembl	human	known	70_37	silent	SNP	0.999	T	T	75567840	C	T	75567840	2	4	185	1	0	0	0	0	0	0	0	1	10355	813	29	1		1	NEK9	14	75567840	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	744077	75567840	31781700	1119	35394										
C14orf148	122945	genome.wustl.edu	37	chr14	77872322	77872322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttaattgcaactttgggcaaGatgctgtgtctttcccacag	9	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:77872322G>C	ENST00000380835.2	-	5	1005	c.839C>G	c.(838-840)tCt>tGt	p.S280C		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	280					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTTTGGGCAAGATGCTGTGTC	0.463																																																	0													108	95	99					14																	77872322		1568	3582	5150	SO:0001583	missense	122945			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.839C>G	14.37:g.77872322G>C	ENSP00000370215:p.Ser280Cys		B3KQ47|O95435	Missense_Mutation	SNP	pfam_NADP_OxRdtase_F420	p.S280C	ENST00000380835.2	37	c.839	CCDS45142.1	14	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128195	0.56721	.	.	ENSG00000165555	ENST00000380835	T	0.59364	0.27	5.34	3.24	0.37175	.	0.701578	0.13513	N	0.382372	T	0.46852	0.1414	L	0.56769	1.78	0.09310	N	0.999999	P	0.35844	0.524	B	0.28139	0.086	T	0.49753	-0.8906	10	0.87932	D	0	-4.7991	5.5184	0.16919	0.1:0.0:0.659:0.241	.	280	Q6NXP6	NXRD1_HUMAN	C	280	ENSP00000370215:S280C	ENSP00000370215:S280C	S	-	2	0	C14orf148	76942075	0.001000	0.12720	0.006000	0.13384	0.965000	0.64279	0.817000	0.27281	1.406000	0.46857	0.460000	0.39030	TCT	NOXRED1	-	NULL		0.463	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	G	NM_138791		77872322	-1	no_errors	ENST00000380835	ensembl	human	known	70_37	missense	SNP	0.003	C	C	77872322	G	C	77872322	3	2	185	1	0	0	0	0	1	0	0	0	1755	942	33	1	248	1	C14orf148	14	77872322	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2304482	77872322	29477218	1120	35395										
PSMC1	5700	genome.wustl.edu	37	chr14	90734620	90734620	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaacctcagccactttcttGagagtggttggctctgaact	9	11	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:90734620G>C	ENST00000261303.8	+	8	847	c.744G>C	c.(742-744)ttG>ttC	p.L248F	PSMC1_ENST00000543772.2_Missense_Mutation_p.L175F	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CCACTTTCTTGAGAGTGGTTG	0.428																																																	0													26	27	26					14																	90734620		2203	4296	6499	SO:0001583	missense	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.744G>C	14.37:g.90734620G>C	ENSP00000261303:p.Leu248Phe		B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.L248F	ENST00000261303.8	37	c.744	CCDS32139.1	14	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839174	0.71373	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.93426	-3.22;-3.22	5.04	2.03	0.26663	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.91991	0.7463	N	0.20357	0.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90280	0.4314	10	0.87932	D	0	-10.9665	7.6086	0.28115	0.1447:0.2388:0.6165:0.0	.	248	P62191	PRS4_HUMAN	F	248;175	ENSP00000261303:L248F;ENSP00000445147:L175F	ENSP00000261303:L248F	L	+	3	2	PSMC1	89804373	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.042000	0.57347	0.644000	0.30656	0.563000	0.77884	TTG	PSMC1	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45		0.428	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC1	HGNC	protein_coding	OTTHUMT00000411253.1	G	NM_002802		90734620	1	no_errors	ENST00000261303	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90734620	G	C	90734620	3	2	185	1	0	0	0	0	1	0	0	0	12712	1281	45	1	774	1	PSMC1	14	90734620	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	12862298	90734620	16614920	1121	35396										
BTBD7	55727	genome.wustl.edu	37	chr14	93760445	93760445	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ataattcttgtgggagtcctCaaagttcggtctgtgatttc	10	7	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:93760445C>G	ENST00000334746.5	-	3	1228	c.921G>C	c.(919-921)ttG>ttC	p.L307F	BTBD7_ENST00000555525.1_Missense_Mutation_p.L307F|BTBD7_ENST00000298896.3_Missense_Mutation_p.L307F|BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	307	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGGGAGTCCTCAAAGTTCGGT	0.398																																																	0													59	55	57					14																	93760445		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.921G>C	14.37:g.93760445C>G	ENSP00000335615:p.Leu307Phe		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.L307F	ENST00000334746.5	37	c.921	CCDS32146.1	14	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768353	0.31320	.	.	ENSG00000011114	ENST00000334746;ENST00000553975;ENST00000298896;ENST00000555525	T;T;T	0.67698	-0.28;-0.28;-0.28	5.59	3.78	0.43462	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.994;0.998	T	0.75033	-0.3460	10	0.87932	D	0	.	6.9579	0.24582	0.0:0.6201:0.0:0.3799	.	307;307;307	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	F	307;17;307;307	ENSP00000335615:L307F;ENSP00000298896:L307F;ENSP00000451408:L307F	ENSP00000298896:L307F	L	-	3	2	BTBD7	92830198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.409000	0.34680	0.729000	0.32403	0.655000	0.94253	TTG	BTBD7	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.398	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	C	NM_001002860		93760445	-1	no_errors	ENST00000334746	ensembl	human	known	70_37	missense	SNP	1.000	G	G	93760445	C	G	93760445	3	3	185	1	0	0	0	0	1	0	0	0	1549	825	29	1	2588	1	BTBD7	14	93760445	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3025825	93760445	13589095	1122	35397										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102467326	102467326	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatgccctcctgaaccagctGaaaagcttccctgcccggtt	9	15	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:102467326G>C	ENST00000360184.4	+	19	4274	c.4110G>C	c.(4108-4110)ctG>ctC	p.L1370L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1370	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGAACCAGCTGAAAAGCTTCC	0.448																																																	0													133	138	136					14																	102467326		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4110G>C	14.37:g.102467326G>C			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L1370	ENST00000360184.4	37	c.4110	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom-2		0.448	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102467326	1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	1.000	C	C	102467326	G	C	102467326	2	2	185	1	0	0	0	0	0	0	0	1	4851	1277	45	1		1	DYNC1H1	14	102467326	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	8706881	102467326	4882214	1123	35398										
MARK3	4140	genome.wustl.edu	37	chr14	103969412	103969412	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctcttctgcgtccacggaGatgggcacgcggagaacctc	13	13	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:103969412G>A	ENST00000429436.2	+	18	2620	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	MARK3_ENST00000216288.7_Missense_Mutation_p.D664N|MARK3_ENST00000335102.5_Missense_Mutation_p.D727N|MARK3_ENST00000416682.2_Missense_Mutation_p.D703N|MARK3_ENST00000440884.3_Missense_Mutation_p.D610N|MARK3_ENST00000553942.1_Missense_Mutation_p.D695N|MARK3_ENST00000303622.9_Missense_Mutation_p.D680N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	704	KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CGTCCACGGAGATGGGCACGC	0.572																																																	0													65	67	66					14																	103969412		2046	4216	6262	SO:0001583	missense	4140			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2110G>A	14.37:g.103969412G>A	ENSP00000411397:p.Asp704Asn		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.D704N	ENST00000429436.2	37	c.2110	CCDS45165.1	14	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033725	0.54896	.	.	ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	6.06	5.17	0.71159	Kinase-associated KA1 (3);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.58810	1.83	0.80722	D	1	B;D;B;P;B;B;B;B;B	0.64830	0.049;0.994;0.098;0.491;0.035;0.045;0.084;0.037;0.049	B;D;B;B;B;B;B;B;B	0.66716	0.083;0.946;0.221;0.114;0.029;0.11;0.063;0.169;0.049	T	0.73241	-0.4045	10	0.52906	T	0.07	.	15.3261	0.74164	0.0666:0.0:0.9334:0.0	.	711;282;703;413;664;704;610;695;680	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;.;.;.;MARK3_HUMAN;.;.;.	N	727;396;610;703;704;680;664;695;282	ENSP00000335347:D727N;ENSP00000402104:D610N;ENSP00000408092:D703N;ENSP00000411397:D704N;ENSP00000303698:D680N;ENSP00000216288:D664N;ENSP00000450772:D695N;ENSP00000451623:D282N	ENSP00000216288:D695N	D	+	1	0	MARK3	103039165	1.000000	0.71417	0.065000	0.19835	0.010000	0.07245	9.807000	0.99171	1.584000	0.49913	0.655000	0.94253	GAT	MARK3	-	superfamily_Kinase-assoc_KA1		0.572	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1	G	NM_001128918		103969412	1	no_errors	ENST00000429436	ensembl	human	known	70_37	missense	SNP	0.998	A	A	103969412	G	A	103969412	3	1	185	1	0	0	0	0	1	0	0	0	9337	942	33	1	2180	1	MARK3	14	103969412	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1502086	103969412	3380128	1124	35399										
CKB	1152	genome.wustl.edu	37	chr14	103986313	103986313	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctgcaccagctccacctctGagaagcccaggcggtcagcg	11	16	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:103986313G>C	ENST00000348956.2	-	8	1391	c.1034C>G	c.(1033-1035)tCa>tGa	p.S345*		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	345	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	CTCCACCTCTGAGAAGCCCAG	0.652																																					Esophageal Squamous(186;2492 2823 49929 50127)												0													45	39	41					14																	103986313		2202	4300	6502	SO:0001587	stop_gained	1152				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.1034C>G	14.37:g.103986313G>C	ENSP00000299198:p.Ser345*		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Nonsense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.S345*	ENST00000348956.2	37	c.1034	CCDS9981.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.720997	0.98453	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553610	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.5297	18.1882	0.89798	0.0:0.0:1.0:0.0	.	.	.	.	X	345;310;143	.	ENSP00000299198:S345X	S	-	2	0	CKB	103056066	1.000000	0.71417	0.982000	0.44146	0.903000	0.53119	7.862000	0.87013	2.286000	0.76751	0.462000	0.41574	TCA	CKB	-	pfam_ATP-guanido_PTrfase_cat		0.652	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKB	HGNC	protein_coding	OTTHUMT00000415111.1	G			103986313	-1	no_errors	ENST00000348956	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	103986313	G	C	103986313	4	2	185	1	0	0	0	0	0	1	0	0	3451	1294	45	1	115	1	CKB	14	103986313	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	16901	103986313	3363227	1125	35400										
BAG5	9529	genome.wustl.edu	37	chr14	104026644	104026644	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agttcattttttatttctctCattctcttgaggaccttttc	4	9	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:104026644C>G	ENST00000445922.2	-	2	1104	c.858G>C	c.(856-858)atG>atC	p.M286I	BAG5_ENST00000337322.4_Missense_Mutation_p.M327I|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000299204.4_Missense_Mutation_p.M286I|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	286	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.M286I(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TTATTTCTCTCATTCTCTTGA	0.373																																					NSCLC(171;1832 2055 18950 31566 41632)												1	Substitution - Missense(1)	endometrium(1)											96	104	101					14																	104026644		2203	4300	6503	SO:0001583	missense	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.858G>C	14.37:g.104026644C>G	ENSP00000391713:p.Met286Ile		O94950|Q86W59	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.M327I	ENST00000445922.2	37	c.981	CCDS9982.1	14	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274279	0.40194	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87029	-2.2;-2.2;-2.2	5.65	5.65	0.86999	BAG domain (3);	0.372679	0.30501	N	0.009483	T	0.77384	0.4122	N	0.14661	0.345	0.35463	D	0.796677	B;B	0.28933	0.072;0.228	B;B	0.27796	0.067;0.083	T	0.80562	-0.1327	10	0.51188	T	0.08	-53.2142	13.0002	0.58670	0.0:0.9265:0.0:0.0735	.	286;327	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	I	286;286;327	ENSP00000299204:M286I;ENSP00000391713:M286I;ENSP00000338814:M327I	ENSP00000299204:M286I	M	-	3	0	BAG5	103096397	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.642000	0.54367	2.670000	0.90874	0.655000	0.94253	ATG	BAG5	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain		0.373	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	HGNC	protein_coding	OTTHUMT00000414990.1	C			104026644	-1	no_errors	ENST00000337322	ensembl	human	known	70_37	missense	SNP	1.000	G	G	104026644	C	G	104026644	3	3	185	1	0	0	0	0	1	0	0	0	1291	826	29	1	489	1	BAG5	14	104026644	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	40331	104026644	3322896	1126	35401										
BAG5	9529	genome.wustl.edu	37	chr14	104028264	104028264	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actcgcctcccactgggagtCcacaatggcctaatgcacgt	9	15	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:104028264C>G	ENST00000445922.2	-	1	219				BAG5_ENST00000337322.4_Missense_Mutation_p.W27C|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000299204.4_Intron|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|APOPT1_ENST00000556253.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CACTGGGAGTCCACAATGGCC	0.488																																					NSCLC(171;1832 2055 18950 31566 41632)												0													105	105	105					14																	104028264		1913	4134	6047	SO:0001627	intron_variant	9529			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.27+172G>C	14.37:g.104028264C>G			O94950|Q86W59	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.W27C	ENST00000445922.2	37	c.81	CCDS9982.1	14	.	.	.	.	.	.	.	.	.	.	C	6.111	0.388649	0.11581	.	.	ENSG00000166170	ENST00000337322	T	0.80393	-1.37	2.39	-0.567	0.11763	.	1.784330	0.04256	U	0.339485	T	0.70579	0.3240	.	.	.	0.09310	N	0.999998	B	0.18013	0.025	B	0.18871	0.023	T	0.55921	-0.8064	9	0.56958	D	0.05	.	5.0903	0.14704	0.0:0.5244:0.0:0.4756	.	27	Q9UL15-2	.	C	27	ENSP00000338814:W27C	ENSP00000338814:W27C	W	-	3	0	BAG5	103098017	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.324000	0.07986	-0.148000	0.11234	0.561000	0.74099	TGG	BAG5	-	NULL		0.488	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	HGNC	protein_coding	OTTHUMT00000414990.1	C			104028264	-1	no_errors	ENST00000337322	ensembl	human	known	70_37	missense	SNP	0.000	G	G	104028264	C	G	104028264	1	3	185	0	1	0	0	0	0	0	0	0	1291	856	30	1		1	BAG5	14	104028264	Intron	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1620	104028264	3321276	1127	35402										
C14orf79	122616	genome.wustl.edu	37	chr14	105452872	105452872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgagaggctgagtgatgacaGtttggaatggagacggacct	16	5	0	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr14:105452872G>C	ENST00000547315.1	+	1	743	c.104G>C	c.(103-105)aGt>aCt	p.S35T	C14orf79_ENST00000550614.1_5'Flank	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	35										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			AGTGATGACAGTTTGGAATGG	0.637																																																	0													62	73	69					14																	105452872		2087	4197	6284	SO:0001583	missense	122616				CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.104G>C	14.37:g.105452872G>C	ENSP00000450114:p.Ser35Thr		B2RPK9|Q9BTP4	Missense_Mutation	SNP	NULL	p.S35T	ENST00000547315.1	37	c.104	CCDS42000.1	14	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060258	0.19987	.	.	ENSG00000140104	ENST00000547315	.	.	.	3.51	-4.24	0.03777	.	18.778600	0.00397	U	0.000056	T	0.18173	0.0436	N	0.19112	0.55	0.09310	N	0.999998	B	0.33103	0.397	B	0.26770	0.073	T	0.07986	-1.0744	9	0.41790	T	0.15	6.2415	1.2157	0.01913	0.4541:0.1662:0.2249:0.1548	.	35	Q96F83	CN079_HUMAN	T	35	.	ENSP00000374614:S35T	S	+	2	0	C14orf79	104523917	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.233000	0.02934	-0.499000	0.06623	-0.359000	0.07587	AGT	C14orf79	-	NULL		0.637	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf79	HGNC	protein_coding	OTTHUMT00000409318.1	G	NM_174891		105452872	1	no_errors	ENST00000547315	ensembl	human	known	70_37	missense	SNP	0.000	C	C	105452872	G	C	105452872	3	2	185	1	0	0	0	0	1	0	0	0	1784	1029	36	4	106	4	C14orf79	14	105452872	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1424608	105452872	1896668	1128	35403										
CYFIP1	23191	genome.wustl.edu	37	chr15	22928434	22928434	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgtaacgagcagcctaacaGagtggaaatctacgagaaaa	10	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:22928434G>A	ENST00000313077.7	+	5	436	c.311G>A	c.(310-312)aGa>aAa	p.R104K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.R104K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAGCCTAACAGAGTGGAAATC	0.468																																																	0													140	154	149					15																	22928434		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.311G>A	15.37:g.22928434G>A	ENSP00000324549:p.Arg104Lys			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.R104K	ENST00000313077.7	37	c.311	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448111	0.63178	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.42513	0.97	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000001	T	0.56920	0.2018	L	0.58669	1.825	0.80722	D	1	P;B	0.50156	0.932;0.001	P;B	0.60012	0.867;0.008	T	0.48490	-0.9031	10	0.20046	T	0.44	-8.8007	18.1393	0.89634	0.0:0.0:1.0:0.0	.	132;104	E7EQ04;Q7L576	.;CYFP1_HUMAN	K	104;132	ENSP00000324549:R104K	ENSP00000324549:R104K	R	+	2	0	CYFIP1	20479875	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	9.403000	0.97302	2.520000	0.84964	0.561000	0.74099	AGA	CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int		0.468	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	G	NM_014608		22928434	1	no_errors	ENST00000313077	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22928434	G	A	22928434	3	1	185	1	0	0	0	0	1	0	0	0	4142	942	33	1	325	1	CYFIP1	15	22928434	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		22928434	79602958	1129	35404										
C15orf2	23742	genome.wustl.edu	37	chr15	24922056	24922056	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cactgccattgctgtgggatCgaggtgagcttcccccacct	11	14	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:24922056C>G	ENST00000329468.2	+	1	1516	c.1042C>G	c.(1042-1044)Cga>Gga	p.R348G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	348	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCTGTGGGATCGAGGTGAGCT	0.567																																																	0													55	50	52					15																	24922056		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1042C>G	15.37:g.24922056C>G	ENSP00000333735:p.Arg348Gly			Missense_Mutation	SNP	NULL	p.R348G	ENST00000329468.2	37	c.1042	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	16.07	3.019430	0.54576	.	.	ENSG00000185823	ENST00000329468	T	0.12255	2.7	1.93	-0.177	0.13307	.	4.252720	0.00857	N	0.001898	T	0.26484	0.0647	L	0.47190	1.495	0.09310	N	1	D	0.63046	0.992	D	0.72982	0.979	T	0.13072	-1.0523	10	0.32370	T	0.25	.	2.8902	0.05674	0.0:0.5024:0.3018:0.1958	.	348	Q9NZP6	CO002_HUMAN	G	348	ENSP00000333735:R348G	ENSP00000333735:R348G	R	+	1	2	C15orf2	22473149	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-0.503000	0.06383	-0.035000	0.13691	0.313000	0.20887	CGA	NPAP1	-	NULL		0.567	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24922056	1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	G	G	24922056	C	G	24922056	3	3	185	1	0	0	0	0	1	0	0	0	1788	876	31	1	1044	1	C15orf2	15	24922056	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1993622	24922056	77609336	1130	35405										
CHRFAM7A	89832	genome.wustl.edu	37	chr15	30665258	30665258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcagatccaaggaccagcctCcgtaagaccaggacccaaac	9	15	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:30665258C>T	ENST00000299847.2	-	6	704	c.251G>A	c.(250-252)gGa>gAa	p.G84E	CHRFAM7A_ENST00000397827.3_5'UTR|CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000401522.3_5'UTR	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	84						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GGACCAGCCTCCGTAAGACCA	0.512																																																	0													61	56	58					15																	30665258		2175	4253	6428	SO:0001583	missense	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.251G>A	15.37:g.30665258C>T	ENSP00000299847:p.Gly84Glu		A8KAB9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.G84E	ENST00000299847.2	37	c.251	CCDS32184.1	15	.	.	.	.	.	.	.	.	.	.	.	14.32	2.501038	0.44455	.	.	ENSG00000166664	ENST00000299847	T	0.77489	-1.1	2.07	2.07	0.26955	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	L	0.49571	1.57	0.80722	D	1	B	0.28636	0.218	B	0.32090	0.14	T	0.73905	-0.3835	10	0.87932	D	0	.	10.2424	0.43321	0.0:1.0:0.0:0.0	.	84	Q494W8	CRFM7_HUMAN	E	84	ENSP00000299847:G84E	ENSP00000299847:G84E	G	-	2	0	CHRFAM7A	28452550	0.004000	0.15560	0.990000	0.47175	0.871000	0.50021	1.293000	0.33353	1.475000	0.48197	0.398000	0.26397	GGA	CHRFAM7A	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.512	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	HGNC	protein_coding	OTTHUMT00000430700.1	C	NM_148911		30665258	-1	no_errors	ENST00000299847	ensembl	human	known	70_37	missense	SNP	0.991	T	T	30665258	C	T	30665258	3	4	185	1	0	0	0	0	1	0	0	0	3380	855	30	1	1007	1	CHRFAM7A	15	30665258	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5743202	30665258	71866134	1131	35406										
NOP10	55505	genome.wustl.edu	37	chr15	34634298	34634298	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagcaggtctgttgtcccatCgggtcaaatttctgctccag	11	11	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:34634298C>G	ENST00000328848.4	-	2	169	c.66G>C	c.(64-66)ccG>ccC	p.P22P	NUTM1_ENST00000537011.1_5'Flank|NOP10_ENST00000557912.1_Intron|NUTM1_ENST00000438749.3_5'Flank	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	22					pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA RNP complex (GO:0072588)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	snoRNA binding (GO:0030515)			lung(1)|ovary(1)	2						GTTGTCCCATCGGGTCAAATT	0.498																																																	0													111	93	99					15																	34634298		2201	4298	6499	SO:0001819	synonymous_variant	55505			AB043103	CCDS10037.1	15q14-q15	2014-09-17	2012-12-10	2008-10-13	ENSG00000182117	ENSG00000182117			14378	protein-coding gene	gene with protein product	"homolog of yeast Nop10p"	606471	"nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)", "NOP10 ribonucleoprotein homolog (yeast)"	NOLA3		11074001, 9843512	Standard	NM_018648		Approved	NOP10P, MGC70651	uc001zie.1	Q9NPE3	OTTHUMG00000129440	ENST00000328848.4:c.66G>C	15.37:g.34634298C>G				Silent	SNP	pfam_H/ACA_rnp_Nop10	p.P22	ENST00000328848.4	37	c.66	CCDS10037.1	15																																																																																			NOP10	-	pfam_H/ACA_rnp_Nop10		0.498	NOP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP10	HGNC	protein_coding	OTTHUMT00000251602.2	C	NM_018648		34634298	-1	no_errors	ENST00000328848	ensembl	human	known	70_37	silent	SNP	0.000	G	G	34634298	C	G	34634298	2	3	185	1	0	0	0	0	0	0	0	1	10559	871	31	1		1	NOP10	15	34634298	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3969040	34634298	67897094	1132	35407										
AQR	9716	genome.wustl.edu	37	chr15	35149043	35149043	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcctgaggtgtgttagcttCtgccggtgcagatacagctc	12	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:35149043C>T	ENST00000156471.5	-	35	4633	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1470					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTGTTAGCTTCTGCCGGTGCA	0.537																																																	0													112	112	112					15																	35149043		1992	4180	6172	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.4408G>A	15.37:g.35149043C>T	ENSP00000156471:p.Glu1470Lys		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	NULL	p.E1470K	ENST00000156471.5	37	c.4408	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096398	0.36952	.	.	ENSG00000021776	ENST00000543879	.	.	.	5.05	1.9	0.25705	.	1.191160	0.05996	N	0.646898	T	0.18045	0.0433	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22730	-1.0208	9	0.35671	T	0.21	-4.3933	2.2849	0.04124	0.1971:0.4974:0.1915:0.114	.	1470	O60306	AQR_HUMAN	K	1470	.	ENSP00000445700:E1470K	E	-	1	0	AQR	32936335	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.220000	0.09215	0.208000	0.20626	0.557000	0.71058	GAA	AQR	-	NULL		0.537	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	C	NM_014691		35149043	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	missense	SNP	0.002	T	T	35149043	C	T	35149043	3	4	185	1	0	0	0	0	1	0	0	0	835	922	32	1	53	1	AQR	15	35149043	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	514745	35149043	67382349	1133	35408										
DISP2	85455	genome.wustl.edu	37	chr15	40659864	40659864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcctcacgctcatggtgctGctgggggtgctgggctcact	14	12	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:40659864G>A	ENST00000267889.3	+	8	1638	c.1551G>A	c.(1549-1551)ctG>ctA	p.L517L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	517	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCATGGTGCTGCTGGGGGTGC	0.617																																																	0													100	89	93					15																	40659864		2203	4300	6503	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1551G>A	15.37:g.40659864G>A			Q6AHW3|Q9C0C1	Silent	SNP	pfscan_SSD	p.L517	ENST00000267889.3	37	c.1551	CCDS10056.1	15																																																																																			DISP2	-	pfscan_SSD		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	G	NM_033510		40659864	1	no_errors	ENST00000267889	ensembl	human	known	70_37	silent	SNP	0.998	A	A	40659864	G	A	40659864	2	1	185	1	0	0	0	0	0	0	0	1	4550	1306	46	4		4	DISP2	15	40659864	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5510821	40659864	61871528	1134	35409										
NUSAP1	51203	genome.wustl.edu	37	chr15	41643260	41643260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagcaggaaagccaggatctCagagctactgcaaaagttcc	10	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:41643260C>T	ENST00000559596.1	+	4	468	c.381C>T	c.(379-381)ctC>ctT	p.L127L	NUSAP1_ENST00000450592.2_Silent_p.L104L|NUSAP1_ENST00000260359.6_Silent_p.L112L|NUSAP1_ENST00000560747.1_Silent_p.L126L|NUSAP1_ENST00000414849.2_Silent_p.L127L|NUSAP1_ENST00000560177.1_Silent_p.L126L|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Silent_p.L127L			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	127					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GCCAGGATCTCAGAGCTACTG	0.383																																																	0													72	67	68					15																	41643260		1886	4127	6013	SO:0001819	synonymous_variant	51203			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.381C>T	15.37:g.41643260C>T			B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Silent	SNP	NULL	p.L127	ENST00000559596.1	37	c.381	CCDS45234.1	15																																																																																			NUSAP1	-	NULL		0.383	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000419427.1	C	NM_016359		41643260	1	no_errors	ENST00000559596	ensembl	human	known	70_37	silent	SNP	0.000	T	T	41643260	C	T	41643260	2	4	185	1	0	0	0	0	0	0	0	1	10802	813	29	1		1	NUSAP1	15	41643260	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	983396	41643260	60888132	1135	35410										
RTF1	23168	genome.wustl.edu	37	chr15	41766883	41766883	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctaggtggcaccagaacaaaCaaagggctgcaactacggta	11	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:41766883C>G	ENST00000389629.4	+	9	1281	c.1269C>G	c.(1267-1269)aaC>aaG	p.N423K		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	423	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CCAGAACAAACAAAGGGCTGC	0.517																																																	0													161	158	159					15																	41766883		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1269C>G	15.37:g.41766883C>G	ENSP00000374280:p.Asn423Lys		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.N423K	ENST00000389629.4	37	c.1269	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	C	19.80	3.893959	0.72639	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.6	3.7	0.42460	Plus-3 domain, subgroup (1);Plus-3 (2);	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.62088	1.915	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	T	0.68965	-0.5270	9	0.56958	D	0.05	-24.7168	9.6222	0.39727	0.0:0.7223:0.0:0.2777	.	423	Q92541	RTF1_HUMAN	K	423	.	ENSP00000374280:N423K	N	+	3	2	RTF1	39554175	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.571000	0.36450	0.706000	0.31912	0.655000	0.94253	AAC	RTF1	-	pfam_Plus-3,smart_Plus3-dom_subgr		0.517	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	C	NM_015138		41766883	1	no_errors	ENST00000389629	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41766883	C	G	41766883	3	3	185	1	0	0	0	0	1	0	0	0	13751	477	17	4	1303	4	RTF1	15	41766883	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	123623	41766883	60764509	1136	35411										
RPAP1	26015	genome.wustl.edu	37	chr15	41815045	41815045	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggaatgggaagggtgaggctGagccagccagactgagacgg	19	7	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:41815045G>C	ENST00000304330.4	-	19	2776	c.2660C>G	c.(2659-2661)tCa>tGa	p.S887*	RPAP1_ENST00000561603.1_Nonsense_Mutation_p.S887*	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	887	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S887L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGTGAGGCTGAGCCAGCCAG	0.637																																																	1	Substitution - Missense(1)	cervix(1)											64	55	58					15																	41815045		2202	4300	6502	SO:0001587	stop_gained	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2660C>G	15.37:g.41815045G>C	ENSP00000306123:p.Ser887*		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Nonsense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.S887*	ENST00000304330.4	37	c.2660	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.722600	0.98929	.	.	ENSG00000103932	ENST00000304330	.	.	.	5.27	5.27	0.74061	.	0.208913	0.42964	D	0.000623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.7813	19.0978	0.93260	0.0:0.0:1.0:0.0	.	.	.	.	X	887	.	ENSP00000306123:S887X	S	-	2	0	RPAP1	39602337	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.201000	0.77847	2.735000	0.93741	0.655000	0.94253	TCA	RPAP1	-	NULL		0.637	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	G	NM_015540		41815045	-1	no_errors	ENST00000304330	ensembl	human	known	70_37	nonsense	SNP	1.000	C	C	41815045	G	C	41815045	4	2	185	1	0	0	0	0	0	1	0	0	13571	1294	45	1	1549	1	RPAP1	15	41815045	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	48162	41815045	60716347	1137	35412										
MAPKBP1	23005	genome.wustl.edu	37	chr15	42107876	42107876	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccaggccctgctggacacaGagctgcctggaggagacaaa	13	13	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:42107876G>C	ENST00000456763.2	+	13	1586	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E458Q|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E458Q|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E341Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E297Q	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	464										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCTGGACACAGAGCTGCCTGG	0.557																																																	0													65	54	58					15																	42107876		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1390G>C	15.37:g.42107876G>C	ENSP00000393099:p.Glu464Gln		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E464Q	ENST00000456763.2	37	c.1390	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	g	20.5	4.006073	0.74932	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.41758	1.06;1.19;0.99;1.12;1.23	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.137501	0.64402	D	0.000003	T	0.46210	0.1381	N	0.14661	0.345	0.34090	D	0.660596	D;D;P;B	0.67145	0.974;0.996;0.628;0.404	P;D;B;B	0.63703	0.796;0.917;0.432;0.249	T	0.48875	-0.8996	10	0.19147	T	0.46	-22.6483	19.8235	0.96607	0.0:0.0:1.0:0.0	.	297;458;464;458	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	Q	458;341;297;464;458	ENSP00000397570:E458Q;ENSP00000221214:E341Q;ENSP00000260357:E297Q;ENSP00000393099:E464Q;ENSP00000426154:E458Q	ENSP00000221214:E341Q	E	+	1	0	MAPKBP1	39895168	1.000000	0.71417	0.995000	0.50966	0.850000	0.48378	9.684000	0.98659	2.696000	0.92011	0.456000	0.33151	GAG	MAPKBP1	-	superfamily_WD40_repeat_dom		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	G	NM_014994		42107876	1	no_errors	ENST00000456763	ensembl	human	known	70_37	missense	SNP	0.976	C	C	42107876	G	C	42107876	3	2	185	1	0	0	0	0	1	0	0	0	9315	943	33	1	1436	1	MAPKBP1	15	42107876	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	292831	42107876	60423516	1138	35413										
GANC	2595	genome.wustl.edu	37	chr15	42631869	42631869	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccttcttttgcttccagctGacataggcgggttcattggg	12	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:42631869G>C	ENST00000318010.8	+	17	2086	c.1846G>C	c.(1846-1848)Gac>Cac	p.D616H		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	616					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GCTTCCAGCTGACATAGGCGG	0.517																																																	0													106	106	106					15																	42631869		2203	4299	6502	SO:0001583	missense	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1846G>C	15.37:g.42631869G>C	ENSP00000326227:p.Asp616His		Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.D616H	ENST00000318010.8	37	c.1846	CCDS10084.1	15	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143848	0.77888	.	.	ENSG00000214013	ENST00000318010	D	0.97811	-4.55	5.87	5.87	0.94306	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.99794	4.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97757	1.0218	10	0.87932	D	0	-23.6564	20.2181	0.98305	0.0:0.0:1.0:0.0	.	616	Q8TET4	GANC_HUMAN	H	616	ENSP00000326227:D616H	ENSP00000326227:D616H	D	+	1	0	GANC	40419161	1.000000	0.71417	0.999000	0.59377	0.406000	0.30931	9.808000	0.99193	2.785000	0.95823	0.655000	0.94253	GAC	GANC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.517	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	G	NM_198141		42631869	1	no_errors	ENST00000318010	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42631869	G	C	42631869	3	2	185	1	0	0	0	0	1	0	0	0	6253	1290	45	1	1912	1	GANC	15	42631869	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	523993	42631869	59899523	1139	35414										
TUBGCP4	27229	genome.wustl.edu	37	chr15	43687352	43687352	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccgatttactgggtcagctGaaggtaatggcttagctgtt	12	7	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:43687352G>A	ENST00000260383.7	+	10	1316	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	TUBGCP4_ENST00000399460.3_Silent_p.L218L|TUBGCP4_ENST00000564079.1_Silent_p.L354L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	354					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGGGTCAGCTGAAGGTAATGG	0.433																																																	0													338	317	324					15																	43687352		1976	4154	6130	SO:0001819	synonymous_variant	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1062G>A	15.37:g.43687352G>A			B3KNK6|Q969X3|Q9NVF0	Silent	SNP	pfam_Spc97_Spc98	p.L354	ENST00000260383.7	37	c.1062		15																																																																																			TUBGCP4	-	pfam_Spc97_Spc98		0.433	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	G	NM_014444		43687352	1	no_errors	ENST00000260383	ensembl	human	known	70_37	silent	SNP	0.983	A	A	43687352	G	A	43687352	2	1	185	1	0	0	0	0	0	0	0	1	16799	1277	45	1		1	TUBGCP4	15	43687352	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1055483	43687352	58844040	1140	35415										
TP53BP1	7158	genome.wustl.edu	37	chr15	43762075	43762075	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catgagaaaactgaggctggGatgggataggaagtgaccca	15	6	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:43762075G>C	ENST00000263801.3	-	11	1607	c.1355C>G	c.(1354-1356)tCc>tGc	p.S452C	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S457C|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S457C|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S457C	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	452					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAGGCTGGGATGGGATAGG	0.428								Other conserved DNA damage response genes																																									0													134	124	127					15																	43762075		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1355C>G	15.37:g.43762075G>C	ENSP00000263801:p.Ser452Cys		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S457C	ENST00000263801.3	37	c.1370	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700797	0.68501	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.26373	2.72;2.72;2.63;2.71;1.74	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.53318	0.1789	M	0.77103	2.36	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.993;0.997;0.997	T	0.56655	-0.7943	10	0.72032	D	0.01	-8.7454	16.0175	0.80455	0.0:0.0:1.0:0.0	.	457;452;457;457	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	C	452;457;457;457;457	ENSP00000263801:S452C;ENSP00000371475:S457C;ENSP00000371470:S457C;ENSP00000393497:S457C;ENSP00000388028:S457C	ENSP00000263801:S452C	S	-	2	0	TP53BP1	41549367	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.349000	0.66010	2.557000	0.86248	0.467000	0.42956	TCC	TP53BP1	-	NULL		0.428	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	G			43762075	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43762075	G	C	43762075	3	2	185	1	0	0	0	0	1	0	0	0	16414	1174	41	1	4635	1	TP53BP1	15	43762075	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	74723	43762075	58769317	1141	35416										
SPG11	80208	genome.wustl.edu	37	chr15	44858173	44858173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagttatcaacttggtgagcCgctgacagtgctgggcctgt	14	9	1	2	rs201721414		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:44858173C>T	ENST00000261866.7	-	38	6894	c.6878G>A	c.(6877-6879)cGg>cAg	p.R2293Q	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.R2180Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2293					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTTGGTGAGCCGCTGACAGTG	0.527													C|||	1	0.000199681	0	0	5008	,	,		19727	0.001		0	False		,,,				2504	0																0								C	GLN/ARG,GLN/ARG	0,4396		0,0,2198	52	45	47		6539,6878	4.3	1	15		47	2,8594	2.2+/-6.3	0,2,4296	yes	missense,missense	SPG11	NM_001160227.1,NM_025137.3	43,43	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	2180/2331,2293/2444	44858173	2,12990	2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6878G>A	15.37:g.44858173C>T	ENSP00000261866:p.Arg2293Gln		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.R2293Q	ENST00000261866.7	37	c.6878	CCDS10112.1	15	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.1	4.380160	0.82682	0.0	2.33E-4	ENSG00000104133	ENST00000261866;ENST00000535302	T;T	0.77750	-1.12;-0.8	6.16	4.3	0.51218	.	0.056862	0.64402	D	0.000002	D	0.86393	0.5922	M	0.74881	2.28	0.80722	D	1	P;D;D	0.89917	0.931;1.0;1.0	B;D;D	0.76575	0.23;0.988;0.988	D	0.86125	0.1571	10	0.49607	T	0.09	.	12.6989	0.57020	0.0:0.8685:0.0:0.1315	.	2180;2293;2293	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	Q	2293;2180	ENSP00000261866:R2293Q;ENSP00000445278:R2180Q	ENSP00000261866:R2293Q	R	-	2	0	SPG11	42645465	0.895000	0.30542	1.000000	0.80357	0.988000	0.76386	2.263000	0.43293	0.943000	0.37553	0.650000	0.86243	CGG	SPG11	-	NULL		0.527	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	C			44858173	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44858173	C	T	44858173	3	4	185	1	0	0	0	0	1	0	0	0	15071	652	23	2	465	2	SPG11	15	44858173	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1096098	44858173	57673219	1142	35417										
C15orf43	145645	genome.wustl.edu	37	chr15	45250686	45250686	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggctttgggtcatttcattCttcctcctgcgtgcctgcaa	9	12	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:45250686C>A	ENST00000340827.3	+	3	279	c.262C>A	c.(262-264)Ctt>Att	p.L88I		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	88										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TCATTTCATTCTTCCTCCTGC	0.413																																																	0													78	73	75					15																	45250686		2198	4298	6496	SO:0001583	missense	145645			BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.262C>A	15.37:g.45250686C>A	ENSP00000340644:p.Leu88Ile			Missense_Mutation	SNP	NULL	p.L88I	ENST00000340827.3	37	c.262	CCDS10115.1	15	.	.	.	.	.	.	.	.	.	.	c	19.82	3.898135	0.72639	.	.	ENSG00000167014	ENST00000340827	T	0.65916	-0.18	4.45	4.45	0.53987	.	0.000000	0.49916	D	0.000139	T	0.68302	0.2986	L	0.34521	1.04	0.32894	D	0.512222	D	0.67145	0.996	D	0.72625	0.978	T	0.75800	-0.3190	10	0.87932	D	0	.	12.7724	0.57429	0.0:1.0:0.0:0.0	.	88	Q8NHR7	CO043_HUMAN	I	88	ENSP00000340644:L88I	ENSP00000340644:L88I	L	+	1	0	C15orf43	43037978	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.431000	0.59915	2.479000	0.83701	0.643000	0.83706	CTT	C15orf43	-	NULL		0.413	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf43	HGNC	protein_coding	OTTHUMT00000254032.1	C	NM_152448		45250686	1	no_errors	ENST00000340827	ensembl	human	known	70_37	missense	SNP	0.997	A	A	45250686	C	A	45250686	3	1	185	1	0	0	0	0	1	0	0	0	1801	913	32	3	272	3	C15orf43	15	45250686	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	392513	45250686	57280706	1143	35418										
DUOX2	50506	genome.wustl.edu	37	chr15	45393432	45393432	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtgtccgagtgatgaacgaGactcgacagctgatgttttg	14	7	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:45393432G>C	ENST00000603300.1	-	22	3094	c.2892C>G	c.(2890-2892)gtC>gtG	p.V964V	DUOX2_ENST00000389039.6_Silent_p.V964V	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	964	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGATGAACGAGACTCGACAGC	0.542																																																	0													51	50	51					15																	45393432		2198	4298	6496	SO:0001819	synonymous_variant	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2892C>G	15.37:g.45393432G>C			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.V964	ENST00000603300.1	37	c.2892	CCDS10117.1	15																																																																																			DUOX2	-	NULL		0.542	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		G	NM_014080		45393432	-1	no_errors	ENST00000389039	ensembl	human	known	70_37	silent	SNP	0.998	C	C	45393432	G	C	45393432	2	2	185	1	0	0	0	0	0	0	0	1	4811	929	33	1		1	DUOX2	15	45393432	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	142746	45393432	57137960	1144	35419										
FBN1	2200	genome.wustl.edu	37	chr15	48779635	48779635	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctctgacactcatcaatatCtgcaaaatggaaatgaccat	5	10	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:48779635C>T	ENST00000316623.5	-	28	3793		c.e28-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCAATATCTGCAAAATGG	0.537																																																	0													129	127	127					15																	48779635		2198	4296	6494	SO:0001630	splice_region_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3338-1G>A	15.37:g.48779635C>T			B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	-	e27-1	ENST00000316623.5	37	c.3338-1	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732288	0.69189	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46566927	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.123000	0.77176	2.639000	0.89480	0.655000	0.94253	.	FBN1	-	-		0.537	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	C		Intron	48779635	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	48779635	C	T	48779635	5	4	185	1	0	0	0	0	0	0	1	0	5720	927	32	1	5434	1	FBN1	15	48779635	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3386203	48779635	53751757	1145	35420										
CEP152	22995	genome.wustl.edu	37	chr15	49076266	49076266	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctaacttgattgcttcttGattcctttccagttgtttca	5	9	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:49076266G>C	ENST00000380950.2	-	10	1412	c.1225C>G	c.(1225-1227)Caa>Gaa	p.Q409E	CEP152_ENST00000399334.3_Missense_Mutation_p.Q409E|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.Q316E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	409					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATTGCTTCTTGATTCCTTTCC	0.368																																																	0													109	101	104					15																	49076266		1867	4085	5952	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1225C>G	15.37:g.49076266G>C	ENSP00000370337:p.Gln409Glu		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.Q409E	ENST00000380950.2	37	c.1225	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305118	0.60305	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.77750	-1.12;-1.12;-1.12	5.23	5.23	0.72850	.	0.250630	0.41712	D	0.000838	D	0.85383	0.5684	L	0.57536	1.79	0.31071	N	0.713036	D;P;D	0.61697	0.982;0.879;0.99	D;B;P	0.70227	0.968;0.275;0.789	T	0.82715	-0.0320	10	0.26408	T	0.33	-8.3334	18.3978	0.90504	0.0:0.0:1.0:0.0	.	316;409;409	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	E	409;316;409;409	ENSP00000370337:Q409E;ENSP00000321000:Q316E;ENSP00000382271:Q409E	ENSP00000321000:Q316E	Q	-	1	0	CEP152	46863558	0.998000	0.40836	0.992000	0.48379	0.889000	0.51656	4.039000	0.57325	2.454000	0.82982	0.467000	0.42956	CAA	CEP152	-	NULL		0.368	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49076266	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	missense	SNP	0.887	C	C	49076266	G	C	49076266	3	2	185	1	0	0	0	0	1	0	0	0	3253	1299	45	1	3807	1	CEP152	15	49076266	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	296631	49076266	53455126	1146	35421										
CEP152	22995	genome.wustl.edu	37	chr15	49085632	49085632	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttgttaagaacctgaagttGaataatctgcatattttctg	7	5	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:49085632G>A	ENST00000380950.2	-	7	905	c.718C>T	c.(718-720)Caa>Taa	p.Q240*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q240*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q147*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	240					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACCTGAAGTTGAATAATCTGC	0.294																																																	0													137	125	129					15																	49085632		1786	4057	5843	SO:0001587	stop_gained	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.718C>T	15.37:g.49085632G>A	ENSP00000370337:p.Gln240*		E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	NULL	p.Q240*	ENST00000380950.2	37	c.718	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.352748	0.98231	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.0234	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	240;147;240;240	.	ENSP00000321000:Q147X	Q	-	1	0	CEP152	46872924	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.534000	0.82004	2.861000	0.98227	0.655000	0.94253	CAA	CEP152	-	NULL		0.294	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49085632	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	49085632	G	A	49085632	4	1	185	1	0	0	0	0	0	1	0	0	3253	1299	45	1	4326	1	CEP152	15	49085632	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	9366	49085632	53445760	1147	35422										
TRPM7	54822	genome.wustl.edu	37	chr15	50875324	50875324	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggaatctacttcatgagtgtCttcggtagatggccttctac	10	9	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:50875324C>G	ENST00000313478.7	-	29	4800	c.4519G>C	c.(4519-4521)Gac>Cac	p.D1507H	TRPM7_ENST00000561443.1_5'Flank|TRPM7_ENST00000560955.1_Missense_Mutation_p.D1506H	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1507					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCATGAGTGTCTTCGGTAGAT	0.279																																																	0													59	57	58					15																	50875324		1784	4051	5835	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4519G>C	15.37:g.50875324C>G	ENSP00000320239:p.Asp1507His		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D1507H	ENST00000313478.7	37	c.4519	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939887	0.73557	.	.	ENSG00000092439	ENST00000313478	T	0.55234	0.53	5.39	5.39	0.77823	.	0.835512	0.11117	N	0.597816	T	0.60104	0.2243	L	0.51422	1.61	0.54753	D	0.99998	P	0.38642	0.641	B	0.43916	0.436	T	0.61148	-0.7121	10	0.72032	D	0.01	-5.8641	19.13	0.93402	0.0:1.0:0.0:0.0	.	1507	Q96QT4	TRPM7_HUMAN	H	1507	ENSP00000320239:D1507H	ENSP00000320239:D1507H	D	-	1	0	TRPM7	48662616	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.114000	0.64648	2.523000	0.85059	0.491000	0.48974	GAC	TRPM7	-	NULL		0.279	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	C	NM_017672		50875324	-1	no_errors	ENST00000313478	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50875324	C	G	50875324	3	3	185	1	0	0	0	0	1	0	0	0	16622	913	32	1	1122	1	TRPM7	15	50875324	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1789692	50875324	51656068	1148	35423										
LEO1	123169	genome.wustl.edu	37	chr15	52244147	52244147	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caagtgacagagtcatctttCtatgtgtggcactgtccgta	10	9	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52244147C>G	ENST00000299601.5	-	9	1565	c.1505G>C	c.(1504-1506)aGa>aCa	p.R502T	LEO1_ENST00000315141.5_Missense_Mutation_p.R442T	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	502					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AGTCATCTTTCTATGTGTGGC	0.448																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													164	135	145					15																	52244147		2195	4293	6488	SO:0001583	missense	123169			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1505G>C	15.37:g.52244147C>G	ENSP00000299601:p.Arg502Thr		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.R502T	ENST00000299601.5	37	c.1505	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.102901	0.94245	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.80847	2.515	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.67725	0.941;0.953	D	0.84595	0.0669	9	0.72032	D	0.01	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	442;502	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	T	502;480;442	.	ENSP00000299601:R502T	R	-	2	0	LEO1	50031439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.654000	0.90174	0.650000	0.86243	AGA	LEO1	-	pfam_Leo1		0.448	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	C	NM_138792		52244147	-1	no_errors	ENST00000299601	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52244147	C	G	52244147	3	3	185	1	0	0	0	0	1	0	0	0	8746	913	32	1	511	1	LEO1	15	52244147	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1368823	52244147	50287245	1149	35424										
GNB5	10681	genome.wustl.edu	37	chr15	52416673	52416673	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaaaccatccctcttactctGagggtatgatcccatgatcc	6	13	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52416673G>T	ENST00000261837.7	-	12	1238	c.1173C>A	c.(1171-1173)ctC>ctA	p.L391L	GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.6_ENST00000559825.1_lincRNA|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Silent_p.L279L|GNB5_ENST00000358784.7_Silent_p.L349L	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	391					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CTCTTACTCTGAGGGTATGAT	0.522																																																	0													78	81	80					15																	52416673		2195	4293	6488	SO:0001819	synonymous_variant	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.1173C>A	15.37:g.52416673G>T			B2RBR5|Q9HAU9|Q9UFT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.L391	ENST00000261837.7	37	c.1173	CCDS10149.1	15																																																																																			GNB5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.522	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	G			52416673	-1	no_errors	ENST00000261837	ensembl	human	known	70_37	silent	SNP	0.094	T	T	52416673	G	T	52416673	2	4	185	1	0	0	0	0	0	0	0	1	6540	1277	45	3		3	GNB5	15	52416673	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	172526	52416673	50114719	1150	35425										
MYO5A	4644	genome.wustl.edu	37	chr15	52632455	52632455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcctcaatgcgggcctctgGgggcagctgcaggttctggg	18	11	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52632455G>T	ENST00000399231.3	-	32	4420	c.4177C>A	c.(4177-4179)Cca>Aca	p.P1393T	MYO5A_ENST00000399233.2_Missense_Mutation_p.P1390T|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1393T|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1366T|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1366T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1393					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CGGGCCTCTGGGGGCAGCTGC	0.612																																																	0													57	62	60					15																	52632455		1912	4112	6024	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4177C>A	15.37:g.52632455G>T	ENSP00000382177:p.Pro1393Thr		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P1393T	ENST00000399231.3	37	c.4177	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347354	0.82022	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916;ENST00000399228	T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	L	0.60845	1.875	0.80722	D	1	D;D;D;B;D	0.89917	0.992;1.0;0.997;0.269;0.976	P;D;D;B;P	0.74023	0.843;0.982;0.945;0.04;0.544	T	0.00343	-1.1802	10	0.19590	T	0.45	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	123;183;186;1393;1366	B5LY56;Q9UES5;O95317;Q9Y4I1;Q9Y4I1-2	.;.;.;MYO5A_HUMAN;.	T	1393;900;1390;1366;1393;996;1366;183	ENSP00000382177:P1393T;ENSP00000382179:P1390T;ENSP00000348693:P1366T;ENSP00000350945:P1393T;ENSP00000451109:P1366T;ENSP00000382174:P183T	ENSP00000348693:P1366T	P	-	1	0	MYO5A	50419747	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	2.960000	0.49161	2.941000	0.99782	0.655000	0.94253	CCA	MYO5A	-	NULL		0.612	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	G	NM_000259		52632455	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	0.999	T	T	52632455	G	T	52632455	3	4	185	1	0	0	0	0	1	0	0	0	10101	1232	43	4	1430	4	MYO5A	15	52632455	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	215782	52632455	49898937	1151	35426										
KIAA1370	56204	genome.wustl.edu	37	chr15	52892428	52892428	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcaatgtttaaacatggtcGaggactattagaaaaacaaa	7	5	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52892428G>T	ENST00000261844.7	-	9	2697	c.2545C>A	c.(2545-2547)Cga>Aga	p.R849R	FAM214A_ENST00000546305.2_Silent_p.R856R|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	849																	AAACATGGTCGAGGACTATTA	0.368																																																	0													77	73	74					15																	52892428		1831	4079	5910	SO:0001819	synonymous_variant	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2545C>A	15.37:g.52892428G>T			A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	NULL	p.R849	ENST00000261844.7	37	c.2545	CCDS45263.1	15																																																																																			FAM214A	-	NULL		0.368	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	G	NM_019600		52892428	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	silent	SNP	0.987	T	T	52892428	G	T	52892428	2	4	185	1	0	0	0	0	0	0	0	1	8246	1066	37	3		3	KIAA1370	15	52892428	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	259973	52892428	49638964	1152	35427										
KIAA1370	56204	genome.wustl.edu	37	chr15	52902402	52902402	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgttgttgaattcttttctCataaaggccaatattagtgt	7	5	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:52902402C>G	ENST00000261844.7	-	6	861	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.E244Q	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	237																	ATTCTTTTCTCATAAAGGCCA	0.383																																																	0													173	150	157					15																	52902402		1907	4136	6043	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.709G>C	15.37:g.52902402C>G	ENSP00000261844:p.Glu237Gln		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.E237Q	ENST00000261844.7	37	c.709	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927900	0.52759	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.36699	1.25;1.24	5.18	5.18	0.71444	.	0.237418	0.44483	D	0.000454	T	0.61924	0.2386	M	0.72118	2.19	0.37451	D	0.914835	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.68830	-0.5305	10	0.72032	D	0.01	.	19.0806	0.93180	0.0:1.0:0.0:0.0	.	244;237	F5H8G0;Q32MH5	.;K1370_HUMAN	Q	237;237;236;244	ENSP00000261844:E237Q;ENSP00000443598:E244Q	ENSP00000261844:E237Q	E	-	1	0	KIAA1370	50689694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.269000	0.65542	2.560000	0.86352	0.650000	0.86243	GAG	FAM214A	-	NULL		0.383	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52902402	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	1.000	G	G	52902402	C	G	52902402	3	3	185	1	0	0	0	0	1	0	0	0	8246	835	29	1	2553	1	KIAA1370	15	52902402	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	9974	52902402	49628990	1153	35428										
SLTM	79811	genome.wustl.edu	37	chr15	59191016	59191016	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttacctttgtcatctttaGatgatgtcttgctgtcttta	6	8	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:59191016G>C	ENST00000380516.2	-	8	1181	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	SLTM_ENST00000536328.1_De_novo_Start_OutOfFrame|SLTM_ENST00000557950.1_5'Flank	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	365					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCATCTTTAGATGATGTCTT	0.323																																																	0													77	78	78					15																	59191016		2192	4292	6484	SO:0001583	missense	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1094C>G	15.37:g.59191016G>C	ENSP00000369887:p.Ser365Cys		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.S365C	ENST00000380516.2	37	c.1094	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916420	0.33815	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.89050	-2.46;-2.46	5.58	5.58	0.84498	.	0.000000	0.50627	D	0.000116	D	0.93572	0.7948	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.93087	0.6496	10	0.54805	T	0.06	.	19.922	0.97089	0.0:0.0:1.0:0.0	.	365	Q9NWH9	SLTM_HUMAN	C	365;347	ENSP00000369887:S365C;ENSP00000249736:S347C	ENSP00000249736:S347C	S	-	2	0	SLTM	56978308	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.278000	0.65592	2.780000	0.95670	0.655000	0.94253	TCT	SLTM	-	NULL		0.323	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	G	NM_024755		59191016	-1	no_errors	ENST00000380516	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59191016	G	C	59191016	3	2	185	1	0	0	0	0	1	0	0	0	14784	942	33	1	2066	1	SLTM	15	59191016	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6288614	59191016	43340376	1154	35429										
MYO1E	4643	genome.wustl.edu	37	chr15	59430493	59430493	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agccttgcactgtggcacctGaggcttgggcttgggctggg	17	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:59430493G>A	ENST00000288235.4	-	27	3553	c.3154C>T	c.(3154-3156)Cag>Tag	p.Q1052*		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1052	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGTGGCACCTGAGGCTTGGGC	0.532											OREG0023155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													128	124	125					15																	59430493		2191	4291	6482	SO:0001587	stop_gained	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.3154C>T	15.37:g.59430493G>A	ENSP00000288235:p.Gln1052*	1038	Q14778	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.Q1052*	ENST00000288235.4	37	c.3154	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824838	0.90955	.	.	ENSG00000157483	ENST00000288235	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8362	0.96658	0.0:0.0:1.0:0.0	.	.	.	.	X	1052	.	ENSP00000288235:Q1052X	Q	-	1	0	MYO1E	57217785	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.841000	0.99482	2.684000	0.91462	0.585000	0.79938	CAG	MYO1E	-	superfamily_SH3_domain,pfscan_SH3_domain		0.532	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	G	NM_004998		59430493	-1	no_errors	ENST00000288235	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	59430493	G	A	59430493	4	1	185	1	0	0	0	0	0	1	0	0	10095	1299	45	1	180	1	MYO1E	15	59430493	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	239477	59430493	43100899	1155	35430										
FAM96A	84191	genome.wustl.edu	37	chr15	64367720	64367720	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgttgagtgggttccttcaGaaatgtagatttccaactgg	11	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:64367720G>C	ENST00000300030.3	-	4	605	c.356C>G	c.(355-357)tCt>tGt	p.S119C	FAM96A_ENST00000558779.1_5'Flank|FAM96A_ENST00000380290.3_Missense_Mutation_p.F102L|FAM96A_ENST00000559950.1_Missense_Mutation_p.S119C|FAM96A_ENST00000557835.1_Missense_Mutation_p.F102L	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	119					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GGTTCCTTCAGAAATGTAGAT	0.313																																																	0													99	97	97					15																	64367720		2203	4300	6503	SO:0001583	missense	84191				CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.356C>G	15.37:g.64367720G>C	ENSP00000300030:p.Ser119Cys		A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	pfam_DUF59	p.S119C	ENST00000300030.3	37	c.356	CCDS10189.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.85|19.85	3.903862|3.903862	0.72754|0.72754	.|.	.|.	ENSG00000166797|ENSG00000166797	ENST00000380290|ENST00000300030	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.061093	.|0.64402	.|D	.|0.000002	T|T	0.71736|0.71736	0.3375|0.3375	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999988|0.999988	B|D	0.12630|0.67145	0.006|0.996	B|P	0.09377|0.54372	0.004|0.75	T|T	0.75422|0.75422	-0.3323|-0.3323	7|8	0.87932|0.59425	D|D	0|0.04	-18.7053|-18.7053	15.8396|15.8396	0.78835|0.78835	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	102|119	B7Z8Z5|Q9H5X1	.|FA96A_HUMAN	L|C	102|119	.|.	ENSP00000369644:F102L|ENSP00000300030:S119C	F|S	-|-	3|2	2|0	FAM96A|FAM96A	62154773|62154773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.412000|8.412000	0.90232|0.90232	2.318000|2.318000	0.78349|0.78349	0.650000|0.650000	0.86243|0.86243	TTC|TCT	FAM96A	-	NULL		0.313	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM96A	HGNC	protein_coding	OTTHUMT00000256520.1	G	NM_032231		64367720	-1	no_errors	ENST00000300030	ensembl	human	known	70_37	missense	SNP	1.000	C	C	64367720	G	C	64367720	3	2	185	1	0	0	0	0	1	0	0	0	5672	942	33	1	134	1	FAM96A	15	64367720	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4937227	64367720	38163672	1156	35431										
PPIB	5479	genome.wustl.edu	37	chr15	64454326	64454326	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatcacccggcctacatcttCatctccaattcgtaggtcaa	6	14	5	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:64454326C>A	ENST00000300026.3	-	2	381	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	55	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CCTACATCTTCATCTCCAATT	0.463																																					GBM(105;399 1481 32889 33051 36637)												0													200	210	207					15																	64454326		2203	4300	6503	SO:0001587	stop_gained	5479				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.163G>T	15.37:g.64454326C>A	ENSP00000300026:p.Glu55*		A8K534|Q6IBH5|Q9BVK5	Nonsense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E55*	ENST00000300026.3	37	c.163	CCDS10191.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.121608	0.97300	.	.	ENSG00000166794	ENST00000300026	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.1484	0.93477	0.0:1.0:0.0:0.0	.	.	.	.	X	55	.	ENSP00000300026:E55X	E	-	1	0	PPIB	62241379	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	1.404000	0.34623	2.625000	0.88918	0.455000	0.32223	GAA	PPIB	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom		0.463	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	HGNC	protein_coding	OTTHUMT00000256604.1	C			64454326	-1	no_errors	ENST00000300026	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	64454326	C	A	64454326	4	1	185	1	0	0	0	0	0	1	0	0	12346	835	29	3	503	3	PPIB	15	64454326	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	86606	64454326	38077066	1157	35432										
CILP	8483	genome.wustl.edu	37	chr15	65495766	65495766	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagacacgctctgcccagctCtccgtgcttttgtctcaggg	11	14	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:65495766C>T	ENST00000261883.4	-	7	1128	c.962G>A	c.(961-963)aGa>aAa	p.R321K		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	321	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGCCCAGCTCTCCGTGCTTT	0.498																																																	0													114	101	105					15																	65495766		2201	4299	6500	SO:0001583	missense	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.962G>A	15.37:g.65495766C>T	ENSP00000261883:p.Arg321Lys		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R321K	ENST00000261883.4	37	c.962	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213853	0.39102	.	.	ENSG00000138615	ENST00000261883	T	0.13089	2.62	5.24	0.623	0.17654	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127627	0.64402	N	0.000001	T	0.09730	0.0239	L	0.33753	1.03	0.37532	D	0.917979	B	0.14012	0.009	B	0.16289	0.015	T	0.21075	-1.0256	10	0.28530	T	0.3	-17.0733	10.8538	0.46786	0.0:0.6865:0.0:0.3135	.	321	O75339	CILP1_HUMAN	K	321	ENSP00000261883:R321K	ENSP00000261883:R321K	R	-	2	0	CILP	63282819	0.000000	0.05858	0.995000	0.50966	0.977000	0.68977	-0.083000	0.11286	0.220000	0.20860	-0.291000	0.09656	AGA	CILP	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.498	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	C	NM_003613		65495766	-1	no_errors	ENST00000261883	ensembl	human	known	70_37	missense	SNP	0.991	T	T	65495766	C	T	65495766	3	4	185	1	0	0	0	0	1	0	0	0	3434	913	32	1	2604	1	CILP	15	65495766	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1041440	65495766	37035626	1158	35433										
DIS3L	115752	genome.wustl.edu	37	chr15	66604206	66604206	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcttcccctggaagtgttaGaagctgggattaaatctgga	11	7	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:66604206G>C	ENST00000319212.4	+	5	753	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	DIS3L_ENST00000441424.2_Missense_Mutation_p.E101Q|DIS3L_ENST00000319194.5_Missense_Mutation_p.E152Q	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	235					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGAAGTGTTAGAAGCTGGGAT	0.498																																																	0													111	102	105					15																	66604206		2201	4299	6500	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.703G>C	15.37:g.66604206G>C	ENSP00000321711:p.Glu235Gln		Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.E235Q	ENST00000319212.4	37	c.703	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503264	0.44558	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212;ENST00000525109	T;T;T;T	0.64618	0.98;0.98;0.98;-0.11	4.91	3.99	0.46301	.	0.050882	0.85682	D	0.000000	T	0.47192	0.1432	N	0.04880	-0.145	0.53688	D	0.999976	P;P	0.49783	0.604;0.928	B;P	0.51487	0.353;0.671	T	0.35226	-0.9797	10	0.13853	T	0.58	-17.5435	12.1998	0.54319	0.0834:0.0:0.9166:0.0	.	235;235	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	Q	152;101;235;101	ENSP00000321583:E152Q;ENSP00000388980:E101Q;ENSP00000321711:E235Q;ENSP00000432125:E101Q	ENSP00000321583:E152Q	E	+	1	0	DIS3L	64391260	1.000000	0.71417	0.082000	0.20525	0.189000	0.23516	9.407000	0.97325	1.035000	0.39972	0.462000	0.41574	GAA	DIS3L	-	NULL		0.498	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	G	NM_133375		66604206	1	no_errors	ENST00000319212	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66604206	G	C	66604206	3	2	185	1	0	0	0	0	1	0	0	0	4546	943	33	1	721	1	DIS3L	15	66604206	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1108440	66604206	35927186	1159	35434										
SMAD3	4088	genome.wustl.edu	37	chr15	67457307	67457307	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctactgccgcctgtggcgatGgccagacctgcacagccacc	11	17	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:67457307G>A	ENST00000327367.4	+	2	591	c.281G>A	c.(280-282)tGg>tAg	p.W94*	SMAD3_ENST00000439724.3_Nonsense_Mutation_p.W50*|SMAD3_ENST00000540846.2_5'UTR|SMAD3_ENST00000537194.2_5'Flank|SMAD3_ENST00000559092.1_Missense_Mutation_p.G76S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	94	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTGTGGCGATGGCCAGACCTG	0.612																																																	0													102	109	106					15																	67457307		2201	4299	6500	SO:0001587	stop_gained	4088			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.281G>A	15.37:g.67457307G>A	ENSP00000332973:p.Trp94*		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.W94*	ENST00000327367.4	37	c.281	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.408206	0.97542	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000439724	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1514	0.86779	0.0:0.0:1.0:0.0	.	.	.	.	X	94;94;50	.	ENSP00000332973:W94X	W	+	2	0	SMAD3	65244361	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.421000	0.97455	2.270000	0.75569	0.561000	0.74099	TGG	SMAD3	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.612	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	HGNC	protein_coding	OTTHUMT00000256967.2	G	NM_005902		67457307	1	no_errors	ENST00000327367	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	67457307	G	A	67457307	4	1	185	1	0	0	0	0	0	1	0	0	14789	1357	47	4	365	4	SMAD3	15	67457307	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	853101	67457307	35074085	1160	35435										
UACA	55075	genome.wustl.edu	37	chr15	70960113	70960113	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attgtgtcgagctccttcttCtgggctttaatttcggcatg	10	9	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:70960113C>T	ENST00000322954.6	-	16	3095	c.2910G>A	c.(2908-2910)caG>caA	p.Q970Q	UACA_ENST00000560441.1_Silent_p.Q955Q|UACA_ENST00000379983.2_Silent_p.Q957Q|UACA_ENST00000539319.1_Silent_p.Q861Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	970					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCTCCTTCTTCTGGGCTTTAA	0.423																																																	0													180	168	172					15																	70960113		2199	4298	6497	SO:0001819	synonymous_variant	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2910G>A	15.37:g.70960113C>T			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.Q970	ENST00000322954.6	37	c.2910	CCDS10235.1	15																																																																																			UACA	-	NULL		0.423	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70960113	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	silent	SNP	1.000	T	T	70960113	C	T	70960113	2	4	185	1	0	0	0	0	0	0	0	1	16855	912	32	1		1	UACA	15	70960113	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3502806	70960113	31571279	1161	35436										
LARP6	55323	genome.wustl.edu	37	chr15	71128790	71128790	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aactcctcatccgggggcttCcactcctgctccaggtcctc	8	18	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:71128790C>T	ENST00000299213.8	-	2	325	c.255G>A	c.(253-255)tgG>tgA	p.W85*		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	85					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CCGGGGGCTTCCACTCCTGCT	0.517																																																	0													92	94	94					15																	71128790		2199	4297	6496	SO:0001587	stop_gained	55323			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.255G>A	15.37:g.71128790C>T	ENSP00000299213:p.Trp85*		Q5XKE4|Q8N3N2|Q9NUR0	Nonsense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.W85*	ENST00000299213.8	37	c.255	CCDS32281.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.485005	0.96323	.	.	ENSG00000166173	ENST00000299213	.	.	.	5.58	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-18.9077	13.6477	0.62292	0.0:0.8437:0.1563:0.0	.	.	.	.	X	85	.	ENSP00000299213:W85X	W	-	3	0	LARP6	68915844	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.500000	0.60387	2.627000	0.88993	0.655000	0.94253	TGG	LARP6	-	NULL		0.517	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	HGNC	protein_coding	OTTHUMT00000417197.2	C	NM_018357		71128790	-1	no_errors	ENST00000299213	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	71128790	C	T	71128790	4	4	185	1	0	0	0	0	0	1	0	0	8652	856	30	1	1228	1	LARP6	15	71128790	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	168677	71128790	31402602	1162	35437										
PKM2	5315	genome.wustl.edu	37	chr15	72502765	72502765	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggccggtagaggatggggtCagaagcaaagctttccgtgg	18	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:72502765C>T	ENST00000335181.5	-	4	404	c.301G>A	c.(301-303)Gac>Aac	p.D101N	PKM_ENST00000565154.1_Missense_Mutation_p.D101N|PKM_ENST00000319622.6_Missense_Mutation_p.D101N|PKM_ENST00000568883.1_Intron|PKM_ENST00000389093.3_Missense_Mutation_p.D101N|PKM_ENST00000449901.2_Missense_Mutation_p.D86N|PKM_ENST00000565184.1_Missense_Mutation_p.D101N|PKM_ENST00000568459.1_Missense_Mutation_p.D101N	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	101					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	AGGATGGGGTCAGAAGCAAAG	0.547																																																	0													121	106	111					15																	72502765		2199	4297	6496	SO:0001583	missense	5315			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.301G>A	15.37:g.72502765C>T	ENSP00000334983:p.Asp101Asn		A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.D101N	ENST00000335181.5	37	c.301	CCDS32284.1	15	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062349	0.55432	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000389093;ENST00000449901	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	5.51	5.51	0.81932	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.094778	0.64402	D	0.000001	D	0.97210	0.9088	L	0.38175	1.15	0.40432	D	0.979951	B;B;B;B;B	0.13145	0.007;0.001;0.001;0.001;0.001	B;B;B;B;B	0.16289	0.015;0.008;0.003;0.006;0.004	D	0.95625	0.8684	10	0.18276	T	0.48	-11.0467	13.0533	0.58966	0.0:0.9263:0.0:0.0737	.	86;101;101;101;101	B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2	.;.;.;KPYM_HUMAN;.	N	101;101;101;86	ENSP00000320171:D101N;ENSP00000334983:D101N;ENSP00000373745:D101N;ENSP00000403365:D86N	ENSP00000320171:D101N	D	-	1	0	PKM2	70289819	0.959000	0.32827	1.000000	0.80357	0.982000	0.71751	2.144000	0.42197	2.738000	0.93877	0.655000	0.94253	GAC	PKM	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,tigrfam_Pyr_Knase		0.547	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKM	HGNC	protein_coding	OTTHUMT00000420056.1	C			72502765	-1	no_errors	ENST00000319622	ensembl	human	known	70_37	missense	SNP	0.998	T	T	72502765	C	T	72502765	3	4	185	1	0	0	0	0	1	0	0	0	12001	826	29	1	1497	1	PKM2	15	72502765	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1373975	72502765	30028627	1163	35438										
CYP11A1	1583	genome.wustl.edu	37	chr15	74630935	74630935	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatgaggaagatggtcatctCtagctcagcgatccgccgtc	12	11	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:74630935C>G	ENST00000268053.6	-	8	1565	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	CYP11A1_ENST00000358632.4_Missense_Mutation_p.E313Q|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E313Q	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	471					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	ATGGTCATCTCTAGCTCAGCG	0.562																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													143	123	130					15																	74630935		2198	4297	6495	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1411G>C	15.37:g.74630935C>G	ENSP00000268053:p.Glu471Gln		A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E471Q	ENST00000268053.6	37	c.1411	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351455	0.61183	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.74421	-0.84;-0.84;-0.84	5.14	5.14	0.70334	.	0.047928	0.85682	D	0.000000	D	0.82495	0.5049	L	0.47078	1.49	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.73708	0.961;0.981	T	0.82552	-0.0400	10	0.46703	T	0.11	-18.0943	18.1856	0.89791	0.0:1.0:0.0:0.0	.	441;471	B4DTE5;P05108	.;CP11A_HUMAN	Q	471;313;313;236	ENSP00000268053:E471Q;ENSP00000351455:E313Q;ENSP00000405488:E313Q	ENSP00000268053:E471Q	E	-	1	0	CYP11A1	72417988	1.000000	0.71417	0.884000	0.34674	0.029000	0.11900	7.164000	0.77533	2.389000	0.81357	0.542000	0.68232	GAG	CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.562	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	C			74630935	-1	no_errors	ENST00000268053	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74630935	C	G	74630935	3	3	185	1	0	0	0	0	1	0	0	0	4149	922	32	1	162	1	CYP11A1	15	74630935	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2128170	74630935	27900457	1164	35439										
SIN3A	25942	genome.wustl.edu	37	chr15	75682011	75682011	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acctgtctgacaatgctctgGatcagtttgtccatggtaaa	9	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:75682011G>A	ENST00000394947.3	-	16	3317	c.3003C>T	c.(3001-3003)atC>atT	p.I1001I	SIN3A_ENST00000394949.4_Silent_p.I1001I|SIN3A_ENST00000360439.4_Silent_p.I1001I	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CAATGCTCTGGATCAGTTTGT	0.483																																																	0													195	146	162					15																	75682011		2197	4294	6491	SO:0001819	synonymous_variant	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3003C>T	15.37:g.75682011G>A				Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.I1001	ENST00000394947.3	37	c.3003	CCDS10279.1	15																																																																																			SIN3A	-	NULL		0.483	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	G	NM_015477		75682011	-1	no_errors	ENST00000360439	ensembl	human	known	70_37	silent	SNP	1.000	A	A	75682011	G	A	75682011	2	1	185	1	0	0	0	0	0	0	0	1	14355	1164	41	1		1	SIN3A	15	75682011	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1051076	75682011	26849381	1165	35440										
MORF4L1	10933	genome.wustl.edu	37	chr15	79186509	79186509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacagtatgctgaaattcttGcagatcatcccgatgcaccc	7	13	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:79186509G>A	ENST00000331268.5	+	11	1060	c.856G>A	c.(856-858)Gca>Aca	p.A286T	MORF4L1_ENST00000558502.1_Missense_Mutation_p.A159T|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A272T|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A247T|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A220T|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A159T	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	286	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TGAAATTCTTGCAGATCATCC	0.398																																																	0													124	127	126					15																	79186509		2196	4293	6489	SO:0001583	missense	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.856G>A	15.37:g.79186509G>A	ENSP00000331310:p.Ala286Thr		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.A286T	ENST00000331268.5	37	c.856	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863221	0.51482	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.09255	3.0;3.0;3.0	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.52126	1.63	0.58432	D	0.999994	B;B	0.13145	0.007;0.0	B;B	0.17722	0.019;0.004	T	0.09037	-1.0693	10	0.13853	T	0.58	-28.9018	15.3039	0.73976	0.0:0.0:1.0:0.0	.	247;286	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	T	272;247;286	ENSP00000368850:A272T;ENSP00000408880:A247T;ENSP00000331310:A286T	ENSP00000331310:A286T	A	+	1	0	MORF4L1	76973564	1.000000	0.71417	0.255000	0.24374	0.920000	0.55202	6.369000	0.73109	1.992000	0.58205	0.585000	0.79938	GCA	MORF4L1	-	pfam_MRG_dom,pirsf_EAF3/MRG15		0.398	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	G	NM_006791		79186509	1	no_errors	ENST00000331268	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79186509	G	A	79186509	3	1	185	1	0	0	0	0	1	0	0	0	9729	1319	46	4	898	4	MORF4L1	15	79186509	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3504498	79186509	23344883	1166	35441										
MORF4L1	10933	genome.wustl.edu	37	chr15	79186545	79186545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacccatgtcccaggtgtatGgagcgccacatctcctgaga	10	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:79186545G>A	ENST00000331268.5	+	11	1096	c.892G>A	c.(892-894)Gga>Aga	p.G298R	MORF4L1_ENST00000558502.1_Missense_Mutation_p.G171R|MORF4L1_ENST00000379535.4_Missense_Mutation_p.G284R|MORF4L1_ENST00000426013.2_Missense_Mutation_p.G259R|MORF4L1_ENST00000558746.1_Missense_Mutation_p.G232R|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000559345.1_Missense_Mutation_p.G171R	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	298	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						CCAGGTGTATGGAGCGCCACA	0.403																																																	0													106	108	107					15																	79186545		2196	4293	6489	SO:0001583	missense	10933			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.892G>A	15.37:g.79186545G>A	ENSP00000331310:p.Gly298Arg		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.G298R	ENST00000331268.5	37	c.892	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360047	0.82353	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.61742	0.08;0.08;0.08	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89074	0.3471	10	0.87932	D	0	-3.8655	15.3039	0.73976	0.0:0.0:1.0:0.0	.	259;298	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	R	284;259;298	ENSP00000368850:G284R;ENSP00000408880:G259R;ENSP00000331310:G298R	ENSP00000331310:G298R	G	+	1	0	MORF4L1	76973600	1.000000	0.71417	0.999000	0.59377	0.835000	0.47333	9.606000	0.98325	1.992000	0.58205	0.585000	0.79938	GGA	MORF4L1	-	pfam_MRG_dom,pirsf_EAF3/MRG15		0.403	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	G	NM_006791		79186545	1	no_errors	ENST00000331268	ensembl	human	known	70_37	missense	SNP	1.000	A	A	79186545	G	A	79186545	3	1	185	1	0	0	0	0	1	0	0	0	9729	1349	47	4	934	4	MORF4L1	15	79186545	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	36	79186545	23344847	1167	35442										
FAH	2184	genome.wustl.edu	37	chr15	80445464	80445464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctgccctacggcgtcttctCgaccagaggcgacgtgagca	12	15	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:80445464C>G	ENST00000407106.1	+	2	223	c.68C>G	c.(67-69)tCg>tGg	p.S23W	FAH_ENST00000261755.5_Missense_Mutation_p.S23W|FAH_ENST00000539156.1_5'Flank|FAH_ENST00000561421.1_Missense_Mutation_p.S23W			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	23					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCGTCTTCTCGACCAGAGGC	0.647									Tyrosinemia, type 1																																								0													70	66	67					15																	80445464		2203	4300	6503	SO:0001583	missense	2184	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.68C>G	15.37:g.80445464C>G	ENSP00000385080:p.Ser23Trp		B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.S23W	ENST00000407106.1	37	c.68	CCDS10314.1	15	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798938	0.90538	.	.	ENSG00000103876	ENST00000407106;ENST00000537726;ENST00000261755	D;D	0.87966	-2.32;-2.32	5.08	5.08	0.68730	Fumarylacetoacetase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97225	0.9880	10	0.87932	D	0	-26.4595	17.204	0.86913	0.0:1.0:0.0:0.0	.	23;23	B7Z4W2;P16930	.;FAAA_HUMAN	W	23	ENSP00000385080:S23W;ENSP00000261755:S23W	ENSP00000261755:S23W	S	+	2	0	FAH	78232519	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.953000	0.70290	2.357000	0.79964	0.491000	0.48974	TCG	FAH	-	pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase		0.647	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2	C			80445464	1	no_errors	ENST00000261755	ensembl	human	known	70_37	missense	SNP	1.000	G	G	80445464	C	G	80445464	3	3	185	1	0	0	0	0	1	0	0	0	5386	893	31	1	70	1	FAH	15	80445464	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1258919	80445464	22085928	1168	35443										
WHAMM	123720	genome.wustl.edu	37	chr15	83499708	83499708	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgctctgtcctcatcctctCaagctgcaactcatcagaac	6	15	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:83499708C>G	ENST00000286760.4	+	9	2098	c.1999C>G	c.(1999-2001)Caa>Gaa	p.Q667E		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	667	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CTCATCCTCTCAAGCTGCAAC	0.612																																																	0													39	41	41					15																	83499708		2050	4193	6243	SO:0001583	missense	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1999C>G	15.37:g.83499708C>G	ENSP00000286760:p.Gln667Glu		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.Q667E	ENST00000286760.4	37	c.1999	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	C	4.540	0.100184	0.08731	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.38722	1.12	4.26	3.34	0.38264	.	2.119390	0.02051	N	0.050078	T	0.29458	0.0734	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.27123	-1.0083	10	0.02654	T	1	.	9.6359	0.39806	0.0:0.8995:0.0:0.1005	.	667	Q8TF30	WHAMM_HUMAN	E	667	ENSP00000286760:Q667E	ENSP00000234505:Q667E	Q	+	1	0	WHAMM	81296762	0.100000	0.21855	0.001000	0.08648	0.614000	0.37383	0.750000	0.26334	1.143000	0.42306	0.205000	0.17691	CAA	WHAMM	-	NULL		0.612	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	C			83499708	1	no_errors	ENST00000286760	ensembl	human	known	70_37	missense	SNP	0.003	G	G	83499708	C	G	83499708	3	3	185	1	0	0	0	0	1	0	0	0	17392	827	29	1	2033	1	WHAMM	15	83499708	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3054244	83499708	19031684	1169	35444										
AKAP13	11214	genome.wustl.edu	37	chr15	86261378	86261378	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagatgtggtcaaacggcaaGaagtaatatatggtgagagt	13	3	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:86261378G>A	ENST00000394518.2	+	22	6084	c.5989G>A	c.(5989-5991)Gaa>Aaa	p.E1997K	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.E242K|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2001K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1997	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAACGGCAAGAAGTAATATA	0.363																																					Melanoma(94;603 1453 3280 32295 32951)												0													94	91	92					15																	86261378		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5989G>A	15.37:g.86261378G>A	ENSP00000378026:p.Glu1997Lys		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.E2001K	ENST00000394518.2	37	c.6001	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.390220	0.95988	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.69175	-0.38;-0.38;-0.38	5.65	5.65	0.86999	Dbl homology (DH) domain (3);	.	.	.	.	T	0.77922	0.4203	L	0.48935	1.535	0.54753	D	0.999984	P;D;D	0.76494	0.952;0.999;0.999	P;D;D	0.69479	0.6;0.922;0.964	T	0.78705	-0.2100	9	0.87932	D	0	.	19.0843	0.93196	0.0:0.0:1.0:0.0	.	1977;1997;2001	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	K	77;2001;1997;2000;1976;242	ENSP00000354718:E2001K;ENSP00000378026:E1997K;ENSP00000378018:E242K	ENSP00000354718:E2001K	E	+	1	0	AKAP13	84062382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.420000	0.97426	2.824000	0.97209	0.655000	0.94253	GAA	AKAP13	-	superfamily_DH-domain,pfscan_DH-domain		0.363	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	G	NM_007200		86261378	1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86261378	G	A	86261378	3	1	185	1	0	0	0	0	1	0	0	0	449	943	33	1	6141	1	AKAP13	15	86261378	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2761670	86261378	16270014	1170	35445										
IQGAP1	8826	genome.wustl.edu	37	chr15	91026761	91026761	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgcttccaataagatgtttCtgggagataatgcccactta	8	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:91026761C>G	ENST00000268182.5	+	29	3848	c.3724C>G	c.(3724-3726)Ctg>Gtg	p.L1242V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.L670V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1242	C1.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAAGATGTTTCTGGGAGATAA	0.458																																																	0													94	87	89					15																	91026761		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3724C>G	15.37:g.91026761C>G	ENSP00000268182:p.Leu1242Val		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L1242V	ENST00000268182.5	37	c.3724	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145369	0.21288	.	.	ENSG00000140575	ENST00000268182	T	0.02140	4.43	5.34	4.42	0.53409	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.166929	0.41097	D	0.000959	T	0.02533	0.0077	L	0.47716	1.5	0.44976	D	0.997994	B	0.09022	0.002	B	0.08055	0.003	T	0.50841	-0.8780	10	0.23302	T	0.38	-17.4134	8.7554	0.34643	0.1626:0.7564:0.0:0.0809	.	1242	P46940	IQGA1_HUMAN	V	1242	ENSP00000268182:L1242V	ENSP00000268182:L1242V	L	+	1	2	IQGAP1	88827765	0.724000	0.28038	1.000000	0.80357	0.995000	0.86356	1.364000	0.34171	2.937000	0.99478	0.650000	0.86243	CTG	IQGAP1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.458	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	C	NM_003870		91026761	1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	0.995	G	G	91026761	C	G	91026761	3	3	185	1	0	0	0	0	1	0	0	0	7834	912	32	1	3838	1	IQGAP1	15	91026761	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4765383	91026761	11504631	1171	35446										
SLCO3A1	28232	genome.wustl.edu	37	chr15	92706005	92706005	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcttcatccctccacccctCatcttcggggctggcatcga	9	17	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:92706005C>T	ENST00000318445.6	+	10	1987	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.L591L|RP11-24J19.1_ENST00000557683.1_RNA|RP11-152L20.3_ENST00000561674.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	591					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTCCACCCCTCATCTTCGGGG	0.562																																																	0													50	47	48					15																	92706005		2198	4298	6496	SO:0001819	synonymous_variant	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1773C>T	15.37:g.92706005C>T			A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L591	ENST00000318445.6	37	c.1773	CCDS10371.1	15																																																																																			SLCO3A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.562	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	C	NM_013272		92706005	1	no_errors	ENST00000318445	ensembl	human	known	70_37	silent	SNP	1.000	T	T	92706005	C	T	92706005	2	4	185	1	0	0	0	0	0	0	0	1	14758	813	29	1		1	SLCO3A1	15	92706005	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1679244	92706005	9825387	1172	35447										
LRRK1	79705	genome.wustl.edu	37	chr15	101569240	101569240	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgaggaacctctacttcctCgaccctatttggctctccga	7	15	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr15:101569240C>T	ENST00000388948.3	+	20	3125	c.2766C>T	c.(2764-2766)ctC>ctT	p.L922L	LRRK1_ENST00000284395.5_Silent_p.L919L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTACTTCCTCGACCCTATTT	0.552																																																	0													85	90	88					15																	101569240		1914	4129	6043	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2766C>T	15.37:g.101569240C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.L922	ENST00000388948.3	37	c.2766	CCDS42086.1	15																																																																																			LRRK1	-	NULL		0.552	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	C	NM_024652		101569240	1	no_errors	ENST00000388948	ensembl	human	known	70_37	silent	SNP	0.811	T	T	101569240	C	T	101569240	2	4	185	1	0	0	0	0	0	0	0	1	9055	871	31	1		1	LRRK1	15	101569240	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	8863235	101569240	962152	1173	35448										
WFIKKN1	117166	genome.wustl.edu	37	chr16	682597	682597	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccaggactgtgcggctgctGagaagtgctgcatcaacgtg	14	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:682597G>T	ENST00000319070.2	+	2	509	c.187G>T	c.(187-189)Gag>Tag	p.E63*		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	63	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				TGCGGCTGCTGAGAAGTGCTG	0.701																																																	0													22	24	23					16																	682597		2175	4292	6467	SO:0001587	stop_gained	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.187G>T	16.37:g.682597G>T	ENSP00000324763:p.Glu63*		Q7LDW0|Q8NBQ1|Q96S20	Nonsense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.E63*	ENST00000319070.2	37	c.187	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	38	6.776868	0.97829	.	.	ENSG00000127578	ENST00000319070	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.7221	0.77721	0.0:0.0:1.0:0.0	.	.	.	.	X	63	.	ENSP00000324763:E63X	E	+	1	0	WFIKKN1	622598	1.000000	0.71417	0.780000	0.31762	0.844000	0.47949	9.356000	0.97091	2.293000	0.77203	0.486000	0.48141	GAG	WFIKKN1	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core		0.701	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	G	NM_053284		682597	1	no_errors	ENST00000319070	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	682597	G	T	682597	4	4	185	1	0	0	0	0	0	1	0	0	17389	1291	45	3	193	3	WFIKKN1	16	682597	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		682597	89672156	1174	35449										
WFIKKN1	117166	genome.wustl.edu	37	chr16	683146	683146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgtggtggtcaccagcatcGggcagctggtgctctacaac	13	12	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:683146G>A	ENST00000319070.2	+	2	1058	c.736G>A	c.(736-738)Ggg>Agg	p.G246R		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	246	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CACCAGCATCGGGCAGCTGGT	0.652																																																	0													26	27	27					16																	683146		2187	4285	6472	SO:0001583	missense	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.736G>A	16.37:g.683146G>A	ENSP00000324763:p.Gly246Arg		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.G246R	ENST00000319070.2	37	c.736	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	29.6	5.016636	0.93404	.	.	ENSG00000127578	ENST00000319070	T	0.66638	-0.22	4.7	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057094	0.64402	D	0.000001	D	0.83394	0.5245	M	0.85197	2.74	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	D	0.86805	0.1994	10	0.87932	D	0	.	16.2106	0.82151	0.0:0.0:1.0:0.0	.	246	Q96NZ8	WFKN1_HUMAN	R	246	ENSP00000324763:G246R	ENSP00000324763:G246R	G	+	1	0	WFIKKN1	623147	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	6.314000	0.72848	2.164000	0.68074	0.556000	0.70494	GGG	WFIKKN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.652	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	G	NM_053284		683146	1	no_errors	ENST00000319070	ensembl	human	known	70_37	missense	SNP	1.000	A	A	683146	G	A	683146	3	1	185	1	0	0	0	0	1	0	0	0	17389	1116	39	2	742	2	WFIKKN1	16	683146	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	549	683146	89671607	1175	35450										
C16orf91	283951	genome.wustl.edu	37	chr16	1470076	1470076	+	3'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggagcagtttccgatctgctGagattctgctccgccttcac	10	13	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:1470076G>A	ENST00000442039.2	-	0	646				C16orf91_ENST00000310355.1_Silent_p.L313L|C16orf91_ENST00000563974.1_3'UTR	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91							integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCGATCTGCTGAGATTCTGCT	0.552																																																	0													118	109	112					16																	1470076		2199	4300	6499	SO:0001624	3_prime_UTR_variant	283951			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.*171C>T	16.37:g.1470076G>A			Q96RZ0	Silent	SNP	prints_CCSMST1	p.L313	ENST00000442039.2	37	c.939		16																																																																																			C16orf91	-	NULL		0.552	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	G	NM_001010878		1470076	-1	no_errors	ENST00000310355	ensembl	human	known	70_37	silent	SNP	0.000	A	A	1470076	G	A	1470076	1	1	185	0	1	0	0	0	0	0	0	0	1848	1277	45	1		1	C16orf91	16	1470076	3'UTR	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	786930	1470076	88884677	1176	35451										
C16orf91	283951	genome.wustl.edu	37	chr16	1470400	1470400	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcgccacgaggaagcagctGaggggcagcaccttccacca	13	14	0	1	rs139598395		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:1470400G>C	ENST00000442039.2	-	2	322	c.246C>G	c.(244-246)ctC>ctG	p.L82L	C16orf91_ENST00000310355.1_Silent_p.L239L|C16orf91_ENST00000563974.1_Silent_p.L15L	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	82						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGAAGCAGCTGAGGGGCAGCA	0.622																																																	0													100	95	97					16																	1470400		2199	4300	6499	SO:0001819	synonymous_variant	283951			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.246C>G	16.37:g.1470400G>C			Q96RZ0	Silent	SNP	prints_CCSMST1	p.L239	ENST00000442039.2	37	c.717		16																																																																																			C16orf91	-	prints_CCSMST1		0.622	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	G	NM_001010878		1470400	-1	no_errors	ENST00000310355	ensembl	human	known	70_37	silent	SNP	0.000	C	C	1470400	G	C	1470400	2	2	185	1	0	0	0	0	0	0	0	1	1848	1277	45	1		1	C16orf91	16	1470400	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	324	1470400	88884353	1177	35452										
TSC2	7249	genome.wustl.edu	37	chr16	2103360	2103360	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagcacgcagtggaagcactCtggaaggcggtcgcggatct	15	11	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2103360C>G	ENST00000219476.3	+	4	873	c.243C>G	c.(241-243)ctC>ctG	p.L81L	TSC2_ENST00000401874.2_Silent_p.L81L|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Silent_p.L81L|TSC2_ENST00000568454.1_Silent_p.L92L|TSC2_ENST00000382538.6_Silent_p.L32L|TSC2_ENST00000353929.4_Silent_p.L81L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	81	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGAAGCACTCTGGAAGGCGG	0.677			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													21	19	20					16																	2103360		2194	4293	6487	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.243C>G	16.37:g.2103360C>G			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.L81	ENST00000219476.3	37	c.243	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold		0.677	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2103360	1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	0.739	G	G	2103360	C	G	2103360	2	3	185	1	0	0	0	0	0	0	0	1	16637	900	32	1		1	TSC2	16	2103360	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	632960	2103360	88251393	1178	35453										
RAB26	25837	genome.wustl.edu	37	chr16	2201870	2201870	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccccagctctgctgctgctCtacgatgtcaccaacaaggc	8	16	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2201870C>G	ENST00000210187.6	+	5	589	c.429C>G	c.(427-429)ctC>ctG	p.L143L	RP11-304L19.5_ENST00000563192.1_lincRNA|RAB26_ENST00000541451.1_Silent_p.L77L	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	143					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						TGCTGCTGCTCTACGATGTCA	0.617																																																	0													89	76	80					16																	2201870		2197	4299	6496	SO:0001819	synonymous_variant	25837			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"RAB, member RAS oncogene"	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.429C>G	16.37:g.2201870C>G			B2RAA6|Q3L6K5|Q6NXS7	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L143	ENST00000210187.6	37	c.429	CCDS10460.1	16																																																																																			RAB26	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.617	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB26	HGNC	protein_coding	OTTHUMT00000250767.2	C			2201870	1	no_errors	ENST00000210187	ensembl	human	known	70_37	silent	SNP	0.973	G	G	2201870	C	G	2201870	2	3	185	1	0	0	0	0	0	0	0	1	12943	900	32	1		1	RAB26	16	2201870	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	98510	2201870	88152883	1179	35454										
C16orf79	283870	genome.wustl.edu	37	chr16	2259701	2259701	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggctggggacccaagcctCttggacctgttgagaaggct	14	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2259701C>T	ENST00000562360.1	-	5	444	c.445G>A	c.(445-447)Gag>Aag	p.E149K	BRICD5_ENST00000328540.3_Missense_Mutation_p.E149K|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	149	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											ACCCAAGCCTCTTGGACCTGT	0.687																																																	0													56	69	65					16																	2259701		2198	4300	6498	SO:0001583	missense	283870			BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.445G>A	16.37:g.2259701C>T	ENSP00000455052:p.Glu149Lys		C9J7K2|Q8IXU9	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.E149K	ENST00000562360.1	37	c.445	CCDS10463.1	16	.	.	.	.	.	.	.	.	.	.	C	9.301	1.053073	0.19907	.	.	ENSG00000182685	ENST00000328540	T	0.78595	-1.19	5.52	3.4	0.38934	BRICHOS (2);	1.093780	0.06760	N	0.781634	T	0.68016	0.2955	.	.	.	0.09310	N	0.999993	B;B	0.30563	0.285;0.152	B;B	0.33846	0.171;0.107	T	0.56032	-0.8046	9	0.25751	T	0.34	-5.9021	9.289	0.37775	0.1619:0.681:0.1571:0.0	.	149;149	Q6PL45;Q6PL45-2	CP079_HUMAN;.	K	149	ENSP00000332389:E149K	ENSP00000332389:E149K	E	-	1	0	C16orf79	2199702	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	-0.866000	0.04245	1.421000	0.47157	0.561000	0.74099	GAG	BRICD5	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom		0.687	BRICD5-002	KNOWN	basic|CCDS	protein_coding	BRICD5	HGNC	protein_coding	OTTHUMT00000435091.1	C	NM_182563		2259701	-1	no_errors	ENST00000562360	ensembl	human	known	70_37	missense	SNP	0.002	T	T	2259701	C	T	2259701	3	4	185	1	0	0	0	0	1	0	0	0	1840	922	32	1	249	1	C16orf79	16	2259701	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	57831	2259701	88095052	1180	35455										
ABCA3	21	genome.wustl.edu	37	chr16	2376198	2376198	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acattttccgactgaatcttCaagcggagccagatgaggat	10	9	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2376198C>T	ENST00000301732.5	-	5	832	c.132G>A	c.(130-132)ttG>ttA	p.L44L	ABCA3_ENST00000567910.1_Silent_p.L44L|ABCA3_ENST00000382381.3_Silent_p.L44L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	44					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ACTGAATCTTCAAGCGGAGCC	0.562																																																	0													87	88	88					16																	2376198		2198	4300	6498	SO:0001819	synonymous_variant	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.132G>A	16.37:g.2376198C>T			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L44	ENST00000301732.5	37	c.132	CCDS10466.1	16																																																																																			ABCA3	-	NULL		0.562	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	C	NM_001089		2376198	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	silent	SNP	1.000	T	T	2376198	C	T	2376198	2	4	185	1	0	0	0	0	0	0	0	1	33	825	29	1		1	ABCA3	16	2376198	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	116497	2376198	87978555	1181	35456										
SRRM2	23524	genome.wustl.edu	37	chr16	2813286	2813286	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcatctccacaacccaaagtGaaggcaataatatcaccaag	5	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:2813286G>A	ENST00000301740.8	+	11	3306	c.2757G>A	c.(2755-2757)gtG>gtA	p.V919V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	919	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AACCCAAAGTGAAGGCAATAA	0.502																																																	0													80	74	76					16																	2813286		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2757G>A	16.37:g.2813286G>A			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.V919	ENST00000301740.8	37	c.2757	CCDS32373.1	16																																																																																			SRRM2	-	NULL		0.502	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	G			2813286	1	no_errors	ENST00000301740	ensembl	human	known	70_37	silent	SNP	0.001	A	A	2813286	G	A	2813286	2	1	185	1	0	0	0	0	0	0	0	1	15199	1277	45	1		1	SRRM2	16	2813286	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	437088	2813286	87541467	1182	35457										
OR1F1	4992	genome.wustl.edu	37	chr16	3254342	3254342	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcctctttgtgttcttcctCagcatgtacctggccactgt	7	14	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3254342C>G	ENST00000304646.2	+	1	96	c.96C>G	c.(94-96)ctC>ctG	p.L32L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	32					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGTTCTTCCTCAGCATGTACC	0.582																																																	0													102	92	95					16																	3254342		2197	4298	6495	SO:0001819	synonymous_variant	4992			Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.96C>G	16.37:g.3254342C>G			O15246|Q6IFL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L32	ENST00000304646.2	37	c.96	CCDS10496.1	16																																																																																			OR1F1	-	prints_GPCR_Rhodpsn		0.582	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1F1	HGNC	protein_coding	OTTHUMT00000206985.1	C			3254342	1	no_errors	ENST00000304646	ensembl	human	known	70_37	silent	SNP	0.038	G	G	3254342	C	G	3254342	2	3	185	1	0	0	0	0	0	0	0	1	10980	813	29	1		1	OR1F1	16	3254342	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	441056	3254342	87100411	1183	35458										
ZNF597	146434	genome.wustl.edu	37	chr16	3487266	3487266	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccttcccagggagaatcaaGaatttcagaaagtgtgttgg	11	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3487266G>C	ENST00000301744.4	-	4	668	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GGAGAATCAAGAATTTCAGAA	0.388																																																	0													142	144	143					16																	3487266		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.433C>G	16.37:g.3487266G>C	ENSP00000301744:p.Leu145Val			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L145V	ENST00000301744.4	37	c.433	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	G	0.133	-1.111597	0.01813	.	.	ENSG00000167981	ENST00000301744	T	0.07021	3.23	4.91	0.392	0.16288	.	0.361223	0.20469	N	0.091730	T	0.03827	0.0108	L	0.36672	1.1	0.21290	N	0.999731	P	0.39282	0.666	B	0.29440	0.102	T	0.39231	-0.9624	10	0.14656	T	0.56	-3.4346	3.0485	0.06161	0.2971:0.0:0.4449:0.2581	.	145	Q96LX8	ZN597_HUMAN	V	145	ENSP00000301744:L145V	ENSP00000301744:L145V	L	-	1	0	ZNF597	3427267	.	.	0.708000	0.30435	0.787000	0.44495	.	.	0.232000	0.21100	0.655000	0.94253	CTT	ZNF597	-	NULL		0.388	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2	G	NM_152457		3487266	-1	no_errors	ENST00000301744	ensembl	human	known	70_37	missense	SNP	0.666	C	C	3487266	G	C	3487266	3	2	185	1	0	0	0	0	1	0	0	0	18057	942	33	1	845	1	ZNF597	16	3487266	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	232924	3487266	86867487	1184	35459										
ZNF597	146434	genome.wustl.edu	37	chr16	3487371	3487371	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacccttctcttgtaagtggGagttccacttaatattttcg	8	9	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3487371G>C	ENST00000301744.4	-	4	563	c.328C>G	c.(328-330)Ccc>Gcc	p.P110A		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TTGTAAGTGGGAGTTCCACTT	0.428																																																	0													134	136	135					16																	3487371		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.328C>G	16.37:g.3487371G>C	ENSP00000301744:p.Pro110Ala			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P110A	ENST00000301744.4	37	c.328	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	G	1.166	-0.642306	0.03531	.	.	ENSG00000167981	ENST00000301744	T	0.07444	3.19	4.9	-1.58	0.08479	.	0.959793	0.08564	N	0.927130	T	0.04272	0.0118	N	0.14661	0.345	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.46303	-0.9201	10	0.08837	T	0.75	0.0	9.7287	0.40348	0.4211:0.0:0.5789:0.0	.	110	Q96LX8	ZN597_HUMAN	A	110	ENSP00000301744:P110A	ENSP00000301744:P110A	P	-	1	0	ZNF597	3427372	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	-0.150000	0.10189	-0.391000	0.07763	0.650000	0.86243	CCC	ZNF597	-	NULL		0.428	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2	G	NM_152457		3487371	-1	no_errors	ENST00000301744	ensembl	human	known	70_37	missense	SNP	0.000	C	C	3487371	G	C	3487371	3	2	185	1	0	0	0	0	1	0	0	0	18057	1174	41	1	950	1	ZNF597	16	3487371	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	105	3487371	86867382	1185	35460										
CLUAP1	23059	genome.wustl.edu	37	chr16	3569995	3569995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaaaagagaaaattagaactGgaaagaaatcggaagcgact	11	4	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3569995G>A	ENST00000576634.1	+	7	816	c.672G>A	c.(670-672)ctG>ctA	p.L224L	CLUAP1_ENST00000571025.1_Silent_p.L224L|CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000572600.1_Silent_p.L58L|CLUAP1_ENST00000417763.2_Silent_p.L58L|CLUAP1_ENST00000341633.5_Silent_p.L224L	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	224					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AATTAGAACTGGAAAGAAATC	0.388																																																	0													94	96	96					16																	3569995		2197	4300	6497	SO:0001819	synonymous_variant	23059			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"Intraflagellar transport homologs"	19009	protein-coding gene	gene with protein product	"flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)", "cilia and flagella associated protein 22"					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.672G>A	16.37:g.3569995G>A			O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	pfam_Clusterin-associated_protein-1,superfamily_CH-domain	p.L224	ENST00000576634.1	37	c.672	CCDS32381.1	16																																																																																			CLUAP1	-	pfam_Clusterin-associated_protein-1		0.388	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUAP1	HGNC	protein_coding	OTTHUMT00000437883.2	G	NM_024793		3569995	1	no_errors	ENST00000576634	ensembl	human	known	70_37	silent	SNP	1.000	A	A	3569995	G	A	3569995	2	1	185	1	0	0	0	0	0	0	0	1	3574	1335	47	4		4	CLUAP1	16	3569995	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	82624	3569995	86784758	1186	35461										
NLRC3	197358	genome.wustl.edu	37	chr16	3602271	3602271	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccatgggcccgatgctgttCttctgcaggctgtgggagaa	14	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3602271C>T	ENST00000301749.7	-	0	2682				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGATGCTGTTCTTCTGCAGGC	0.547																																																	0													68	64	65					16																	3602271		1917	4144	6061			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3602271C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.K806	ENST00000301749.7	37	c.2418		16																																																																																			NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.547	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		C	NM_178844		3602271	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	silent	SNP	0.999	T	T	3602271	C	T	3602271	1	4	185	0	1	0	0	0	0	0	0	0	10492	912	32	1		1	NLRC3	16	3602271	RNA	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	32276	3602271	86752482	1187	35462										
CREBBP	1387	genome.wustl.edu	37	chr16	3781798	3781798	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccttgtgcttctccatggtGgcatacagcttctgggacag	11	11	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:3781798G>T	ENST00000262367.5	-	29	5678	c.4869C>A	c.(4867-4869)gcC>gcA	p.A1623A	CREBBP_ENST00000382070.3_Silent_p.A1585A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1623	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTCCATGGTGGCATACAGCT	0.607			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													377	307	331					16																	3781798		2197	4300	6497	SO:0001819	synonymous_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4869C>A	16.37:g.3781798G>T			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.A1623	ENST00000262367.5	37	c.4869	CCDS10509.1	16																																																																																			CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.607	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3781798	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3781798	G	T	3781798	2	4	185	1	0	0	0	0	0	0	0	1	3866	1335	47	4		4	CREBBP	16	3781798	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	179527	3781798	86572955	1188	35463										
ADCY9	115	genome.wustl.edu	37	chr16	4039091	4039091	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcttaaaaaagtaatctttCatcaggctagaagacacaac	7	8	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:4039091C>G	ENST00000294016.3	-	6	2752	c.2214G>C	c.(2212-2214)atG>atC	p.M738I	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	738					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGTAATCTTTCATCAGGCTAG	0.448																																																	0													91	85	87					16																	4039091		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2214G>C	16.37:g.4039091C>G	ENSP00000294016:p.Met738Ile		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.M738I	ENST00000294016.3	37	c.2214	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	c	33	5.233064	0.95207	.	.	ENSG00000162104	ENST00000294016	D	0.83163	-1.69	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	L	0.55481	1.735	0.58432	D	0.999999	D	0.63880	0.993	D	0.70227	0.968	D	0.86629	0.1884	10	0.35671	T	0.21	.	20.5643	0.99342	0.0:1.0:0.0:0.0	.	738	O60503	ADCY9_HUMAN	I	738	ENSP00000294016:M738I	ENSP00000294016:M738I	M	-	3	0	ADCY9	3979092	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.815000	0.86186	2.869000	0.98440	0.556000	0.70494	ATG	ADCY9	-	NULL		0.448	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4039091	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4039091	C	G	4039091	3	3	185	1	0	0	0	0	1	0	0	0	301	826	29	1	1871	1	ADCY9	16	4039091	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	257293	4039091	86315662	1189	35464										
GLIS2	84662	genome.wustl.edu	37	chr16	4384930	4384930	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctcccaaggacaagtgcctCtcgccagacctgcccctgcc	8	20	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:4384930C>G	ENST00000262366.3	+	5	1295	c.474C>G	c.(472-474)ctC>ctG	p.L158L	PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA|GLIS2_ENST00000433375.1_Silent_p.L158L			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	158	Interaction with CTNND1. {ECO:0000250}.|Transcription repression. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACAAGTGCCTCTCGCCAGACC	0.672																																																	0													42	48	46					16																	4384930		2196	4300	6496	SO:0001819	synonymous_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.474C>G	16.37:g.4384930C>G			B3KX84	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L158	ENST00000262366.3	37	c.474	CCDS10511.1	16																																																																																			GLIS2	-	NULL		0.672	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	C	NM_032575		4384930	1	no_errors	ENST00000262366	ensembl	human	known	70_37	silent	SNP	1.000	G	G	4384930	C	G	4384930	2	3	185	1	0	0	0	0	0	0	0	1	6465	900	32	1		1	GLIS2	16	4384930	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	345839	4384930	85969823	1190	35465										
GLIS2	84662	genome.wustl.edu	37	chr16	4385353	4385353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacctgcagcaagagcttctCccgcctggagaacctgaaga	11	13	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:4385353C>T	ENST00000262366.3	+	7	1555	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA|GLIS2_ENST00000433375.1_Missense_Mutation_p.S245F			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	245					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						AAGAGCTTCTCCCGCCTGGAG	0.652																																																	0													76	77	77					16																	4385353		2196	4300	6496	SO:0001583	missense	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.734C>T	16.37:g.4385353C>T	ENSP00000262366:p.Ser245Phe		B3KX84	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S245F	ENST00000262366.3	37	c.734	CCDS10511.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.267315	0.95399	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.20200	2.09;2.09	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.130731	0.53938	D	0.000058	T	0.46600	0.1401	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.39231	-0.9624	10	0.87932	D	0	.	18.3184	0.90229	0.0:1.0:0.0:0.0	.	245	Q9BZE0	GLIS2_HUMAN	F	245	ENSP00000262366:S245F;ENSP00000395547:S245F	ENSP00000262366:S245F	S	+	2	0	GLIS2	4325354	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.968000	0.70413	2.619000	0.88677	0.561000	0.74099	TCC	GLIS2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	C	NM_032575		4385353	1	no_errors	ENST00000262366	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4385353	C	T	4385353	3	4	185	1	0	0	0	0	1	0	0	0	6465	855	30	1	752	1	GLIS2	16	4385353	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	423	4385353	85969400	1191	35466										
NMRAL1	57407	genome.wustl.edu	37	chr16	4511898	4511898	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtctcagggcatagaaacgGaacatgttggccaggtcccg	14	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:4511898G>A	ENST00000574733.1	-	6	1512	c.783C>T	c.(781-783)ttC>ttT	p.F261F	NMRAL1_ENST00000574425.1_Silent_p.F261F|NMRAL1_ENST00000283429.6_Silent_p.F261F|NMRAL1_ENST00000404295.3_Silent_p.F261F|NMRAL1_ENST00000572391.1_5'Flank			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	261						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CATAGAAACGGAACATGTTGG	0.612																																																	0													149	146	147					16																	4511898		2197	4300	6497	SO:0001819	synonymous_variant	57407			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"Short chain dehydrogenase/reductase superfamily / Atypical members"	24987	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 48A, member 1"					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.783C>T	16.37:g.4511898G>A				Silent	SNP	pfam_NmrA,pfam_DH_sc/Rdtase_SDR,pfam_RCK_N	p.F261	ENST00000574733.1	37	c.783	CCDS10516.1	16																																																																																			NMRAL1	-	NULL		0.612	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMRAL1	HGNC	protein_coding	OTTHUMT00000438579.1	G	NM_020677		4511898	-1	no_errors	ENST00000283429	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4511898	G	A	4511898	2	1	185	1	0	0	0	0	0	0	0	1	10525	1165	41	1		1	NMRAL1	16	4511898	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	126545	4511898	85842855	1192	35467										
GRIN2A	2903	genome.wustl.edu	37	chr16	9858728	9858728	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggagttttaacatgttgctCtgggatcccgtcagattgaa	11	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:9858728C>T	ENST00000396573.2	-	14	2982	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	GRIN2A_ENST00000404927.2_Silent_p.Q891Q|GRIN2A_ENST00000535259.1_Silent_p.Q734Q|GRIN2A_ENST00000330684.3_Silent_p.Q891Q|GRIN2A_ENST00000562109.1_Silent_p.Q891Q|GRIN2A_ENST00000396575.2_Silent_p.Q891Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	891					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACATGTTGCTCTGGGATCCCG	0.463																																																	0													179	163	168					16																	9858728		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2673G>A	16.37:g.9858728C>T			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q891	ENST00000396573.2	37	c.2673	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_NMDAR2_C		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	C			9858728	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9858728	C	T	9858728	2	4	185	1	0	0	0	0	0	0	0	1	6799	912	32	1		1	GRIN2A	16	9858728	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5346830	9858728	80496025	1193	35468										
KIAA0430	9665	genome.wustl.edu	37	chr16	15690681	15690681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtttccgaggaggggcaggGaggcacggggacagctgctg	21	8	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:15690681G>A	ENST00000396368.3	-	27	5304	c.5098C>T	c.(5098-5100)Ccc>Tcc	p.P1700S	KIAA0430_ENST00000540441.2_Missense_Mutation_p.P1535S|KIAA0430_ENST00000548025.1_Missense_Mutation_p.P1697S|KIAA0430_ENST00000602337.1_Missense_Mutation_p.P1697S|KIAA0430_ENST00000344181.3_Missense_Mutation_p.P1388S|KIAA0430_ENST00000551742.1_Missense_Mutation_p.P1700S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1700					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GAGGGGCAGGGAGGCACGGGG	0.527																																																	0													66	68	67					16																	15690681		2035	4217	6252	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5098C>T	16.37:g.15690681G>A	ENSP00000379654:p.Pro1700Ser		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P1700S	ENST00000396368.3	37	c.5098	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483575	0.26598	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	3.41	0.39046	.	0.295106	0.33712	N	0.004632	T	0.27731	0.0682	L	0.29908	0.895	0.24148	N	0.995707	B;B;B;B	0.32365	0.081;0.367;0.367;0.048	B;B;B;B	0.26094	0.038;0.066;0.066;0.017	T	0.11991	-1.0565	9	0.46703	T	0.11	-4.2902	9.9181	0.41448	0.0:0.1514:0.6911:0.1575	.	1699;1697;1696;1699	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	S	1700;1535;1640;1388;1697;1700;1566	.	ENSP00000315718:P1640S	P	-	1	0	KIAA0430	15598182	1.000000	0.71417	0.098000	0.21074	0.081000	0.17604	2.416000	0.44644	0.596000	0.29794	0.655000	0.94253	CCC	KIAA0430	-	NULL		0.527	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	G	NM_014647		15690681	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15690681	G	A	15690681	3	1	185	1	0	0	0	0	1	0	0	0	8197	1174	41	1	134	1	KIAA0430	16	15690681	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5831953	15690681	74664072	1194	35469										
COQ7	10229	genome.wustl.edu	37	chr16	19089473	19089473	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcgatatatttatcagaaaGattataaagtgtgtccagtt	9	4	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:19089473G>C	ENST00000321998.5	+	6	713	c.647G>C	c.(646-648)aGa>aCa	p.R216T	COQ7_ENST00000544894.2_Missense_Mutation_p.R178T|COQ7_ENST00000569127.1_Missense_Mutation_p.R193T|COQ7_ENST00000568985.1_Missense_Mutation_p.R216T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	216	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TTATCAGAAAGATTATAAAGT	0.383																																																	0													103	95	98					16																	19089473		2197	4300	6497	SO:0001583	missense	10229			U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"coenzyme Q, 7 (rat, yeast) homolog"			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.647G>C	16.37:g.19089473G>C	ENSP00000322316:p.Arg216Thr		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	pfam_Ubq_synth_Coq7,superfamily_Ferritin/RNR-like	p.R216T	ENST00000321998.5	37	c.647	CCDS10574.1	16	.	.	.	.	.	.	.	.	.	.	G	18.27	3.585994	0.66105	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.53206	0.63;0.63	5.33	5.33	0.75918	.	0.047587	0.85682	D	0.000000	T	0.78362	0.4271	H	0.94847	3.59	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.79108	0.969;0.992	D	0.84947	0.0869	10	0.87932	D	0	-0.0352	18.6392	0.91389	0.0:0.0:1.0:0.0	.	193;216	Q49A71;Q99807	.;COQ7_HUMAN	T	216;178	ENSP00000322316:R216T;ENSP00000442923:R178T	ENSP00000322316:R216T	R	+	2	0	COQ7	18996974	1.000000	0.71417	0.986000	0.45419	0.263000	0.26337	7.684000	0.84104	2.481000	0.83766	0.591000	0.81541	AGA	COQ7	-	pfam_Ubq_synth_Coq7		0.383	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COQ7	HGNC	protein_coding	OTTHUMT00000254275.3	G	NM_016138		19089473	1	no_errors	ENST00000321998	ensembl	human	known	70_37	missense	SNP	1.000	C	C	19089473	G	C	19089473	3	2	185	1	0	0	0	0	1	0	0	0	3755	942	33	1	669	1	COQ7	16	19089473	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3398792	19089473	71265280	1195	35470										
POLR3E	55718	genome.wustl.edu	37	chr16	22339866	22339866	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgcttccccggatgagcaGaaggtgtttgccctctggga	14	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:22339866G>A	ENST00000299853.5	+	19	2069	c.1902G>A	c.(1900-1902)caG>caA	p.Q634Q	POLR3E_ENST00000564209.1_Silent_p.Q634Q|POLR3E_ENST00000359210.4_Silent_p.Q634Q|POLR3E_ENST00000418581.2_Silent_p.Q598Q	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	634					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CGGATGAGCAGAAGGTGTTTG	0.572																																																	0													130	111	118					16																	22339866		2197	4300	6497	SO:0001819	synonymous_variant	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1902G>A	16.37:g.22339866G>A			B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.Q634	ENST00000299853.5	37	c.1902	CCDS10605.1	16																																																																																			POLR3E	-	NULL		0.572	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22339866	1	no_errors	ENST00000299853	ensembl	human	known	70_37	silent	SNP	1.000	A	A	22339866	G	A	22339866	2	1	185	1	0	0	0	0	0	0	0	1	12256	933	33	1		1	POLR3E	16	22339866	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3250393	22339866	68014887	1196	35471										
POLR3E	55718	genome.wustl.edu	37	chr16	22339899	22339899	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctctgggagtctggagacatGagtgatcaggtgaggtgaac	16	6	3	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:22339899G>C	ENST00000299853.5	+	19	2102	c.1935G>C	c.(1933-1935)atG>atC	p.M645I	POLR3E_ENST00000564209.1_Missense_Mutation_p.M645I|POLR3E_ENST00000359210.4_Missense_Mutation_p.M645I|POLR3E_ENST00000418581.2_Missense_Mutation_p.M609I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	645					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTGGAGACATGAGTGATCAGG	0.592																																																	0													129	114	119					16																	22339899		2197	4300	6497	SO:0001583	missense	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1935G>C	16.37:g.22339899G>C	ENSP00000299853:p.Met645Ile		B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc5	p.M645I	ENST00000299853.5	37	c.1935	CCDS10605.1	16	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593001	0.28357	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.41758	0.99;1.0;0.99	5.56	3.54	0.40534	.	0.508960	0.24544	N	0.037611	T	0.20820	0.0501	N	0.03608	-0.345	0.24646	N	0.993541	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.20371	-1.0277	10	0.87932	D	0	-14.47	10.2409	0.43312	0.0:0.1166:0.4972:0.3862	.	589;609;645;645;645	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0	.;.;.;.;RPC5_HUMAN	I	645;645;609	ENSP00000299853:M645I;ENSP00000352140:M645I;ENSP00000399254:M609I	ENSP00000299853:M645I	M	+	3	0	POLR3E	22247400	0.992000	0.36948	0.998000	0.56505	0.896000	0.52359	1.390000	0.34464	0.669000	0.31146	0.462000	0.41574	ATG	POLR3E	-	NULL		0.592	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22339899	1	no_errors	ENST00000299853	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22339899	G	C	22339899	3	2	185	1	0	0	0	0	1	0	0	0	12256	1290	45	1	2005	1	POLR3E	16	22339899	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	33	22339899	68014854	1197	35472										
USP31	57478	genome.wustl.edu	37	chr16	23116857	23116857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacaccaatcctcatgcagtGagaacatttgccttgataca	6	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:23116857G>A	ENST00000219689.7	-	5	993	c.994C>T	c.(994-996)Cac>Tac	p.H332Y		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTCATGCAGTGAGAACATTTG	0.438																																																	0													115	93	101					16																	23116857		2197	4300	6497	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.994C>T	16.37:g.23116857G>A	ENSP00000219689:p.His332Tyr		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.H332Y	ENST00000219689.7	37	c.994	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885777	0.72410	.	.	ENSG00000103404	ENST00000219689	T	0.08370	3.1	4.69	4.69	0.59074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.122893	0.53938	D	0.000057	T	0.19525	0.0469	L	0.39326	1.205	0.80722	D	1	D	0.60575	0.988	P	0.62382	0.901	T	0.00809	-1.1557	10	0.72032	D	0.01	-13.3742	16.637	0.85061	0.0:0.0:1.0:0.0	.	332	Q70CQ4	UBP31_HUMAN	Y	332	ENSP00000219689:H332Y	ENSP00000219689:H332Y	H	-	1	0	USP31	23024358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.430000	0.80321	2.157000	0.67596	0.655000	0.94253	CAC	USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.438	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	G	NM_020718		23116857	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23116857	G	A	23116857	3	1	185	1	0	0	0	0	1	0	0	0	17093	1290	45	1	3112	1	USP31	16	23116857	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	776958	23116857	67237896	1198	35473										
PRKCB	5579	genome.wustl.edu	37	chr16	24166169	24166169	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acccagctccactcctgcttCcagaccatggtaacttgtcc	6	17	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:24166169C>G	ENST00000321728.7	+	10	1405	c.1230C>G	c.(1228-1230)ttC>ttG	p.F410L	PRKCB_ENST00000303531.7_Missense_Mutation_p.F410L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ACTCCTGCTTCCAGACCATGG	0.572																																																	0													86	65	72					16																	24166169		2197	4300	6497	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1230C>G	16.37:g.24166169C>G	ENSP00000318315:p.Phe410Leu		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.F410L	ENST00000321728.7	37	c.1230	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212119	0.79240	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.26660	1.72;1.72	5.87	3.95	0.45737	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	T	0.52094	-0.8621	10	0.87932	D	0	.	12.0715	0.53620	0.0:0.8618:0.0:0.1382	.	410;410	P05771-2;P05771	.;KPCB_HUMAN	L	410	ENSP00000318315:F410L;ENSP00000305355:F410L	ENSP00000305355:F410L	F	+	3	2	PRKCB	24073670	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.685000	0.37659	0.959000	0.37980	-0.136000	0.14681	TTC	PRKCB	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom		0.572	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	C	NM_212535		24166169	1	no_errors	ENST00000303531	ensembl	human	known	70_37	missense	SNP	1.000	G	G	24166169	C	G	24166169	3	3	185	1	0	0	0	0	1	0	0	0	12535	854	30	1	1268	1	PRKCB	16	24166169	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1049312	24166169	66188584	1199	35474										
ARHGAP17	55114	genome.wustl.edu	37	chr16	24942524	24942524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acaagctgctggagtacctcCggggtgctgagagctgggag	17	9	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:24942524C>T	ENST00000289968.6	-	19	2165	c.2096G>A	c.(2095-2097)cGg>cAg	p.R699Q	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R621Q	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	699	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGAGTACCTCCGGGGTGCTGA	0.667																																																	0													73	87	82					16																	24942524		2197	4300	6497	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2096G>A	16.37:g.24942524C>T	ENSP00000289968:p.Arg699Gln		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.R699Q	ENST00000289968.6	37	c.2096	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996680	0.93167	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.27402	1.67;1.94	4.41	4.41	0.53225	.	0.000000	0.40640	N	0.001046	T	0.54431	0.1858	M	0.75264	2.295	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;1.0;1.0	D;D;D;D	0.80764	0.986;0.968;0.994;0.991	T	0.57619	-0.7780	10	0.48119	T	0.1	.	14.5023	0.67729	0.0:1.0:0.0:0.0	.	621;699;232;532	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	Q	699;621;699	ENSP00000289968:R699Q;ENSP00000303130:R621Q	ENSP00000289968:R699Q	R	-	2	0	ARHGAP17	24850025	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.072000	0.71238	1.979000	0.57680	0.462000	0.41574	CGG	ARHGAP17	-	NULL		0.667	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	C	NM_018054		24942524	-1	no_errors	ENST00000289968	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24942524	C	T	24942524	3	4	185	1	0	0	0	0	1	0	0	0	867	652	23	2	557	2	ARHGAP17	16	24942524	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	776355	24942524	65412229	1200	35475										
GTF3C1	2975	genome.wustl.edu	37	chr16	27475925	27475925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctcactggcccagctggcgCgcctcttggtgccccggggg	15	16	2	0	rs370190480		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:27475925C>T	ENST00000356183.4	-	34	5603	c.5588G>A	c.(5587-5589)cGc>cAc	p.R1863H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1863H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1863					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R1863H(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCTGGCGCGCCTCTTGGT	0.692																																																	1	Substitution - Missense(1)	large_intestine(1)						T	HIS/ARG	1,4391		0,1,2195	35	44	41		5588	1.2	0	16		41	0,8588		0,0,4294	no	missense	GTF3C1	NM_001520.3	29	0,1,6489	TT,TC,CC		0.0,0.0228,0.0077	benign	1863/2110	27475925	1,12979	2196	4294	6490	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5588G>A	16.37:g.27475925C>T	ENSP00000348510:p.Arg1863His		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R1863H	ENST00000356183.4	37	c.5588	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	c	15.75	2.924873	0.52759	2.28E-4	0.0	ENSG00000077235	ENST00000356183	T	0.26373	1.74	4.71	1.18	0.20946	.	0.662303	0.14249	N	0.331597	T	0.30417	0.0764	L	0.36672	1.1	0.09310	N	1	B;D	0.69078	0.014;0.997	B;P	0.57548	0.005;0.823	T	0.11179	-1.0598	10	0.39692	T	0.17	-16.5542	9.1594	0.37012	0.0:0.7077:0.0:0.2923	.	1863;1863	Q12789;Q12789-3	TF3C1_HUMAN;.	H	1863	ENSP00000348510:R1863H	ENSP00000348510:R1863H	R	-	2	0	GTF3C1	27383426	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	0.046000	0.14035	0.449000	0.26747	-1.402000	0.01139	CGC	GTF3C1	-	NULL		0.692	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27475925	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.019	T	T	27475925	C	T	27475925	3	4	185	1	0	0	0	0	1	0	0	0	6892	768	27	2	757	2	GTF3C1	16	27475925	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2533401	27475925	62878828	1201	35476										
XPO6	23214	genome.wustl.edu	37	chr16	28143700	28143700	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgtaatcccaaataaacttCtaaattgtcctgaagaacag	5	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:28143700C>G	ENST00000304658.5	-	12	2061	c.1561G>C	c.(1561-1563)Gaa>Caa	p.E521Q	XPO6_ENST00000565698.1_Missense_Mutation_p.E507Q	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	521					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAATAAACTTCTAAATTGTCC	0.299																																																	0													44	38	40					16																	28143700		1819	4066	5885	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1561G>C	16.37:g.28143700C>G	ENSP00000302790:p.Glu521Gln		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E521Q	ENST00000304658.5	37	c.1561	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094071	0.36952	.	.	ENSG00000169180	ENST00000304658	T	0.65178	-0.14	5.26	4.31	0.51392	Armadillo-like helical (1);Armadillo-type fold (1);	0.169318	0.52532	D	0.000062	T	0.37293	0.0998	N	0.08118	0	0.46336	D	0.998992	B;B	0.16396	0.013;0.017	B;B	0.14023	0.01;0.006	T	0.13737	-1.0498	10	0.13853	T	0.58	-4.6453	9.9814	0.41815	0.0:0.9056:0.0:0.0944	.	521;521	B7ZM10;Q96QU8	.;XPO6_HUMAN	Q	521	ENSP00000302790:E521Q	ENSP00000302790:E521Q	E	-	1	0	XPO6	28051201	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.365000	0.66116	1.190000	0.43042	0.563000	0.77884	GAA	XPO6	-	superfamily_ARM-type_fold		0.299	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	C	XM_055195		28143700	-1	no_errors	ENST00000304658	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28143700	C	G	28143700	3	3	185	1	0	0	0	0	1	0	0	0	17479	922	32	1	1868	1	XPO6	16	28143700	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	667775	28143700	62211053	1202	35477										
ATP2A1	487	genome.wustl.edu	37	chr16	28893804	28893804	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagaacgccatcgaggccctGaaggagtatgagccagagat	14	9	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:28893804G>A	ENST00000357084.3	+	5	624	c.357G>A	c.(355-357)ctG>ctA	p.L119L	RP11-22P6.3_ENST00000566956.1_RNA|ATP2A1_ENST00000395503.4_Silent_p.L119L|SNORA43_ENST00000516652.1_RNA|ATP2A1_ENST00000536376.1_5'UTR|RP11-22P6.3_ENST00000561547.1_RNA	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	119					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCGAGGCCCTGAAGGAGTATG	0.597																																																	0													116	90	99					16																	28893804		2197	4300	6497	SO:0001819	synonymous_variant	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.357G>A	16.37:g.28893804G>A			A8K5J9|B3KY17|O14984	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.L119	ENST00000357084.3	37	c.357	CCDS10643.1	16																																																																																			ATP2A1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr		0.597	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	G	NM_004320		28893804	1	no_errors	ENST00000357084	ensembl	human	known	70_37	silent	SNP	0.989	A	A	28893804	G	A	28893804	2	1	185	1	0	0	0	0	0	0	0	1	1137	1277	45	1		1	ATP2A1	16	28893804	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	750104	28893804	61460949	1203	35478										
ATP2A1	487	genome.wustl.edu	37	chr16	28911970	28911970	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaggaggtcacgggctccatCcagctgtgccgtgacgccgg	15	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:28911970C>G	ENST00000357084.3	+	15	2100	c.1833C>G	c.(1831-1833)atC>atG	p.I611M	ATP2A1_ENST00000395503.4_Missense_Mutation_p.I611M|ATP2A1_ENST00000536376.1_Missense_Mutation_p.I486M	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	611					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CGGGCTCCATCCAGCTGTGCC	0.612																																																	0													87	73	78					16																	28911970		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1833C>G	16.37:g.28911970C>G	ENSP00000349595:p.Ile611Met		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.I611M	ENST00000357084.3	37	c.1833	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465963	0.63625	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99418	-5.87;-5.87;-5.87	5.31	3.3	0.37823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	M	0.91196	3.185	0.46654	D	0.999145	P;B;P	0.48350	0.897;0.322;0.909	D;P;D	0.65773	0.914;0.849;0.938	D	0.99016	1.0816	10	0.56958	D	0.05	.	10.1088	0.42550	0.0:0.8267:0.0:0.1733	.	486;611;611	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	M	611;611;648;486	ENSP00000349595:I611M;ENSP00000378879:I611M;ENSP00000443101:I486M	ENSP00000349595:I611M	I	+	3	3	ATP2A1	28819471	0.999000	0.42202	1.000000	0.80357	0.874000	0.50279	1.150000	0.31639	0.576000	0.29452	0.485000	0.47835	ATC	ATP2A1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp		0.612	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	C	NM_004320		28911970	1	no_errors	ENST00000357084	ensembl	human	known	70_37	missense	SNP	1.000	G	G	28911970	C	G	28911970	3	3	185	1	0	0	0	0	1	0	0	0	1137	845	30	1	1891	1	ATP2A1	16	28911970	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	18166	28911970	61442783	1204	35479										
SPN	6693	genome.wustl.edu	37	chr16	29675794	29675794	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgtgcccttccggaacccaGatgagaactcacgaggcatg	11	13	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:29675794G>C	ENST00000360121.3	+	2	837	c.745G>C	c.(745-747)Gat>Cat	p.D249H	SPN_ENST00000395389.2_Missense_Mutation_p.D249H	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCGGAACCCAGATGAGAACTC	0.607																																																	0													74	64	67					16																	29675794		2197	4300	6497	SO:0001583	missense	6693			J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"CD molecules"	11249	protein-coding gene	gene with protein product	"leukosialin"	182160	"sialophorin (gpL115, leukosialin, CD43)"			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.745G>C	16.37:g.29675794G>C	ENSP00000353238:p.Asp249His		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	NULL	p.D249H	ENST00000360121.3	37	c.745	CCDS10650.1	16	.	.	.	.	.	.	.	.	.	.	.	15.98	2.993101	0.54041	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.76316	-1.01;-1.01;-1.01	4.85	-9.7	0.00521	.	4.517250	0.00397	N	0.000059	T	0.62233	0.2411	L	0.36672	1.1	0.09310	N	1	B	0.20052	0.041	B	0.17098	0.017	T	0.48317	-0.9046	10	0.40728	T	0.16	15.8935	4.3059	0.10947	0.2401:0.4124:0.2601:0.0873	.	249	P16150	LEUK_HUMAN	H	249	ENSP00000378787:D249H;ENSP00000412907:D249H;ENSP00000353238:D249H	ENSP00000353238:D249H	D	+	1	0	SPN	29583295	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.601000	0.05687	-2.037000	0.00920	-0.499000	0.04595	GAT	SPN	-	NULL		0.607	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPN	HGNC	protein_coding	OTTHUMT00000215001.2	G			29675794	1	no_errors	ENST00000360121	ensembl	human	known	70_37	missense	SNP	0.000	C	C	29675794	G	C	29675794	3	2	185	1	0	0	0	0	1	0	0	0	15103	942	33	1	747	1	SPN	16	29675794	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	763824	29675794	60678959	1205	35480										
MAZ	4150	genome.wustl.edu	37	chr16	29819890	29819890	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgcccctcccccctcctcaGaaatgtgaggcagctttcgc	8	18	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:29819890G>A	ENST00000322945.6	+	4	1272		c.e4-1		AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Splice_Site|MAZ_ENST00000568282.1_Splice_Site|MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000569978.1_Splice_Site|MAZ_ENST00000568544.1_Splice_Site|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000545521.1_Splice_Site|MAZ_ENST00000562337.1_Splice_Site|AC009133.14_ENST00000563806.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCCTCCTCAGAAATGTGAGG	0.592																																					Colon(72;875 1167 15364 30899 37091)												0													18	19	19					16																	29819890		1935	4122	6057	SO:0001630	splice_region_variant	4150			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1108-1G>A	16.37:g.29819890G>A			A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Splice_Site	SNP	-	e4-1	ENST00000322945.6	37	c.1108-1	CCDS42143.1	16	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439291	0.83885	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3742	0.83379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAZ	29727391	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.365000	0.97139	2.533000	0.85409	0.655000	0.94253	.	MAZ	-	-		0.592	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	G	NM_002383	Intron	29819890	1	no_errors	ENST00000219782	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	29819890	G	A	29819890	5	1	185	1	0	0	0	0	0	0	1	0	9363	956	33	1	1121	1	MAZ	16	29819890	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	144096	29819890	60534863	1206	35481										
TAOK2	9344	genome.wustl.edu	37	chr16	29997591	29997591	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcttctgcctcaggacctGaacaagaagcagacccagaa	8	12	3	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:29997591G>A	ENST00000308893.4	+	16	3041	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L	TAOK2_ENST00000279394.3_Silent_p.L666L|TAOK2_ENST00000416441.2_Silent_p.L493L|TAOK2_ENST00000543033.1_Silent_p.L666L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	666					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTCAGGACCTGAACAAGAAGC	0.642																																																	0													80	79	79					16																	29997591		2197	4300	6497	SO:0001819	synonymous_variant	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1998G>A	16.37:g.29997591G>A			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L666	ENST00000308893.4	37	c.1998	CCDS10663.1	16																																																																																			TAOK2	-	NULL		0.642	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29997591	1	no_errors	ENST00000308893	ensembl	human	known	70_37	silent	SNP	1.000	A	A	29997591	G	A	29997591	2	1	185	1	0	0	0	0	0	0	0	1	15578	1277	45	1		1	TAOK2	16	29997591	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	177701	29997591	60357162	1207	35482										
SEPT1	1731	genome.wustl.edu	37	chr16	30392728	30392728	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcctggatgttcttccggttCaggccactctcatccctaag	8	14	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30392728C>G	ENST00000571393.1	-	6	558	c.372G>C	c.(370-372)ctG>ctC	p.L124L	SEPT1_ENST00000605106.1_Silent_p.L129L|SEPT1_ENST00000321367.3_Silent_p.L171L|SEPT1_ENST00000570039.1_5'Flank			Q8WYJ6	SEPT1_HUMAN	septin 1	124	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCTTCCGGTTCAGGCCACTCT	0.592																																																	0													100	95	97					16																	30392728		2197	4300	6497	SO:0001819	synonymous_variant	1731			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.372G>C	16.37:g.30392728C>G			B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.L129	ENST00000571393.1	37	c.387		16																																																																																			SEPT1	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.592	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		C	NM_052838		30392728	-1	no_errors	ENST00000321367	ensembl	human	known	70_37	silent	SNP	1.000	G	G	30392728	C	G	30392728	2	3	185	1	0	0	0	0	0	0	0	1	14089	813	29	1		1	SEPT1	16	30392728	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	395137	30392728	59962025	1208	35483										
ZNF48	197407	genome.wustl.edu	37	chr16	30409619	30409619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctccgcccgagtcaaacacCtccgcacccacagtggcgag	10	18	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30409619C>T	ENST00000320159.2	+	2	1424	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGTCAAACACCTCCGCACCCA	0.647																																																	0													99	71	81					16																	30409619		2197	4300	6497	SO:0001583	missense	197407			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1048C>T	16.37:g.30409619C>T	ENSP00000324056:p.Leu350Phe		Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L350F	ENST00000320159.2	37	c.1048	CCDS10679.1	16	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888373	0.52014	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.20738	2.05	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36628	N	0.002484	T	0.39733	0.1089	L	0.46614	1.455	0.27704	N	0.945686	D	0.76494	0.999	D	0.73380	0.98	T	0.13548	-1.0505	10	0.72032	D	0.01	-12.2104	15.7385	0.77866	0.0:1.0:0.0:0.0	.	350	Q96MX3	ZNF48_HUMAN	F	475;350	ENSP00000324056:L350F	ENSP00000324056:L350F	L	+	1	0	ZNF48	30317120	0.109000	0.22037	1.000000	0.80357	0.900000	0.52787	0.898000	0.28404	2.575000	0.86900	0.460000	0.39030	CTC	ZNF48	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	C	NM_152652		30409619	1	no_errors	ENST00000320159	ensembl	human	known	70_37	missense	SNP	0.988	T	T	30409619	C	T	30409619	3	4	185	1	0	0	0	0	1	0	0	0	17964	681	24	4	1054	4	ZNF48	16	30409619	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	16891	30409619	59945134	1209	35484										
SEPHS2	22928	genome.wustl.edu	37	chr16	30456155	30456155	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaacctgcagcagttctgttGagggtagccatattgaacat	10	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30456155G>C	ENST00000478753.2	-	1	1347	c.894C>G	c.(892-894)ctC>ctG	p.L298L	SEPHS2_ENST00000500504.2_Silent_p.L298L|SEPHS2_ENST00000542752.1_Silent_p.L241L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	298					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CAGTTCTGTTGAGGGTAGCCA	0.473																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												0													97	93	94					16																	30456155		1972	4153	6125	SO:0001819	synonymous_variant	22928			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.894C>G	16.37:g.30456155G>C			Q9BUQ2	Silent	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.L241	ENST00000478753.2	37	c.723		16																																																																																			SEPHS2	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD		0.473	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	G	NM_012248		30456155	-1	no_errors	ENST00000542752	ensembl	human	known	70_37	silent	SNP	0.010	C	C	30456155	G	C	30456155	2	2	185	1	0	0	0	0	0	0	0	1	14085	1277	45	1		1	SEPHS2	16	30456155	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	46536	30456155	59898598	1210	35485										
ITGAL	3683	genome.wustl.edu	37	chr16	30495167	30495167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggacagaggtgttccgggagGagctgggggcccggccagat	20	9	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30495167G>A	ENST00000356798.6	+	8	922	c.742G>A	c.(742-744)Gag>Aag	p.E248K	ITGAL_ENST00000358164.5_Missense_Mutation_p.E165K|ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000454514.2_3'UTR|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	248	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GTTCCGGGAGGAGCTGGGGGC	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)												0													91	88	89					16																	30495167		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.742G>A	16.37:g.30495167G>A	ENSP00000349252:p.Glu248Lys		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E248K	ENST00000356798.6	37	c.742	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	8.316	0.823284	0.16678	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.83163	-1.69;-1.69	5.96	2.17	0.27698	von Willebrand factor, type A (3);	0.393242	0.21649	N	0.071208	T	0.66877	0.2834	N	0.21324	0.655	0.09310	N	0.999997	B;B	0.12630	0.006;0.001	B;B	0.15484	0.013;0.003	T	0.45977	-0.9224	10	0.06625	T	0.88	.	10.5121	0.44868	0.2609:0.0:0.7391:0.0	.	165;248	Q96HB1;P20701	.;ITAL_HUMAN	K	248;165	ENSP00000349252:E248K;ENSP00000350886:E165K	ENSP00000349252:E248K	E	+	1	0	ITGAL	30402668	0.045000	0.20229	0.008000	0.14137	0.290000	0.27261	0.587000	0.23909	0.732000	0.32470	0.585000	0.79938	GAG	ITGAL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	G			30495167	1	no_errors	ENST00000356798	ensembl	human	known	70_37	missense	SNP	0.002	A	A	30495167	G	A	30495167	3	1	185	1	0	0	0	0	1	0	0	0	7906	1175	41	1	772	1	ITGAL	16	30495167	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	39012	30495167	59859586	1211	35486										
ITGAL	3683	genome.wustl.edu	37	chr16	30518142	30518142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agctggacctgcacttccccCcgggactctccttccgcaag	9	18	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30518142C>T	ENST00000356798.6	+	21	2653	c.2473C>T	c.(2473-2475)Ccg>Tcg	p.P825S	ITGAL_ENST00000358164.5_Missense_Mutation_p.P741S|ITGAL_ENST00000433423.2_Intron|MIR4518_ENST00000580665.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	825					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCACTTCCCCCCGGGACTCTC	0.597																																					NSCLC(110;1462 1641 3311 33990 49495)												0													129	126	127					16																	30518142		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2473C>T	16.37:g.30518142C>T	ENSP00000349252:p.Pro825Ser		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.P825S	ENST00000356798.6	37	c.2473	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.533878	0.00951	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.44083	0.93;0.93	5.2	1.86	0.25419	Integrin alpha-2 (1);	1.128570	0.06770	N	0.783345	T	0.29158	0.0725	N	0.24115	0.695	0.09310	N	0.999998	B;B	0.11235	0.004;0.002	B;B	0.18263	0.021;0.012	T	0.23583	-1.0184	10	0.12430	T	0.62	.	10.468	0.44620	0.5132:0.4868:0.0:0.0	.	741;825	Q96HB1;P20701	.;ITAL_HUMAN	S	825;741	ENSP00000349252:P825S;ENSP00000350886:P741S	ENSP00000349252:P825S	P	+	1	0	ITGAL	30425643	0.000000	0.05858	0.098000	0.21074	0.085000	0.17905	-0.249000	0.08842	0.549000	0.28973	0.437000	0.28790	CCG	ITGAL	-	pfam_Integrin_alpha-2		0.597	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	C			30518142	1	no_errors	ENST00000356798	ensembl	human	known	70_37	missense	SNP	0.166	T	T	30518142	C	T	30518142	3	4	185	1	0	0	0	0	1	0	0	0	7906	623	22	4	2555	4	ITGAL	16	30518142	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	22975	30518142	59836611	1212	35487										
ZNF764	92595	genome.wustl.edu	37	chr16	30567088	30567088	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggatggcccggtgtttgctCagggaggaagcgtggccgaa	18	8	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30567088C>G	ENST00000252797.2	-	3	734	c.654G>C	c.(652-654)ctG>ctC	p.L218L	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Silent_p.L217L	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GGTGTTTGCTCAGGGAGGAAG	0.677																																																	0													22	23	23					16																	30567088		2196	4298	6494	SO:0001819	synonymous_variant	92595			BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"Zinc fingers, C2H2-type", "-"	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.654G>C	16.37:g.30567088C>G			A8MZF4|B3KSN2|H9KV99|Q9BWS1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L218	ENST00000252797.2	37	c.654	CCDS10683.1	16																																																																																			ZNF764	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.677	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF764	HGNC	protein_coding	OTTHUMT00000255541.1	C	NM_033410		30567088	-1	no_errors	ENST00000252797	ensembl	human	known	70_37	silent	SNP	0.996	G	G	30567088	C	G	30567088	2	3	185	1	0	0	0	0	0	0	0	1	18168	813	29	1		1	ZNF764	16	30567088	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	48946	30567088	59787665	1213	35488										
ZNF688	146542	genome.wustl.edu	37	chr16	30582364	30582364	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcccagtctttcccccttctCaggatcctgggcggcggggc	12	16	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30582364C>G	ENST00000223459.6	-	2	1381	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	ZNF688_ENST00000395219.1_Missense_Mutation_p.E79Q|AC002310.7_ENST00000486926.1_RNA|ZNF688_ENST00000567855.1_Missense_Mutation_p.E93Q|AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000563707.1_Intron	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCCCCTTCTCAGGATCCTGG	0.592																																																	0													37	39	38					16																	30582364		2197	4300	6497	SO:0001583	missense	146542			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.277G>C	16.37:g.30582364C>G	ENSP00000223459:p.Glu93Gln		A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E93Q	ENST00000223459.6	37	c.277	CCDS10684.1	16	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323221	0.60634	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04360	3.64;3.95	5.2	4.24	0.50183	Krueppel-associated box (1);	.	.	.	.	T	0.06280	0.0162	N	0.12637	0.245	0.31840	N	0.623631	D;D	0.58268	0.967;0.982	P;P	0.55112	0.544;0.769	T	0.31861	-0.9928	9	0.30078	T	0.28	.	11.3083	0.49349	0.1815:0.8185:0.0:0.0	.	93;79	P0C7X2;A8MV39	ZN688_HUMAN;.	Q	79;93	ENSP00000378645:E79Q;ENSP00000223459:E93Q	ENSP00000223459:E93Q	E	-	1	0	ZNF688	30489865	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.016000	0.29976	1.541000	0.49316	0.655000	0.94253	GAG	ZNF688	-	pfscan_Krueppel-associated_box		0.592	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF688	HGNC	protein_coding	OTTHUMT00000255544.2	C	NM_145271		30582364	-1	no_errors	ENST00000223459	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30582364	C	G	30582364	3	3	185	1	0	0	0	0	1	0	0	0	18123	835	29	1	561	1	ZNF688	16	30582364	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	15276	30582364	59772389	1214	35489										
ZNF689	115509	genome.wustl.edu	37	chr16	30615816	30615816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caggcatagggccgctcgccCgagtgcacgcgccggtggct	16	15	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30615816C>T	ENST00000287461.3	-	3	1609	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	ZNF689_ENST00000566673.1_5'Flank|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	424					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCCGCTCGCCCGAGTGCACGC	0.662																																																	0													19	16	17					16																	30615816		2191	4297	6488	SO:0001819	synonymous_variant	115509			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.1272G>A	16.37:g.30615816C>T			Q658J5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S424	ENST00000287461.3	37	c.1272	CCDS10686.1	16																																																																																			ZNF689	-	pfscan_Znf_C2H2		0.662	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF689	HGNC	protein_coding	OTTHUMT00000255552.1	C	NM_138447		30615816	-1	no_errors	ENST00000287461	ensembl	human	known	70_37	silent	SNP	0.207	T	T	30615816	C	T	30615816	2	4	185	1	0	0	0	0	0	0	0	1	18124	639	23	2		2	ZNF689	16	30615816	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	33452	30615816	59738937	1215	35490										
SRCAP	10847	genome.wustl.edu	37	chr16	30735462	30735462	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctccagctcaggcttcccttCtggctccagcatcttctgca	7	17	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30735462C>G	ENST00000262518.4	+	25	5102	c.4717C>G	c.(4717-4719)Ctg>Gtg	p.L1573V	SRCAP_ENST00000395059.2_Missense_Mutation_p.L1511V|SRCAP_ENST00000344771.4_Missense_Mutation_p.L1415V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1573	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCTTCCCTTCTGGCTCCAGC	0.602																																																	0													89	80	83					16																	30735462		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4717C>G	16.37:g.30735462C>G	ENSP00000262518:p.Leu1573Val		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.L1573V	ENST00000262518.4	37	c.4717	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	8.407	0.843237	0.16963	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94931	-2.86;-3.43;-3.56	5.65	3.68	0.42216	.	0.000000	0.42172	D	0.000747	D	0.92743	0.7693	N	0.19112	0.55	0.23524	N	0.997497	D;D;D	0.71674	0.993;0.998;0.996	P;D;P	0.63488	0.879;0.915;0.824	D	0.85608	0.1256	10	0.41790	T	0.15	-7.7166	9.0883	0.36594	0.0:0.8186:0.0:0.1814	.	1415;1511;1573	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	V	1573;1511;1415	ENSP00000262518:L1573V;ENSP00000378499:L1511V;ENSP00000343042:L1415V	ENSP00000262518:L1573V	L	+	1	2	SRCAP	30642963	0.003000	0.15002	1.000000	0.80357	0.981000	0.71138	0.775000	0.26689	1.354000	0.45846	0.460000	0.39030	CTG	SRCAP	-	NULL		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30735462	1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30735462	C	G	30735462	3	3	185	1	0	0	0	0	1	0	0	0	15165	912	32	1	4807	1	SRCAP	16	30735462	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	119646	30735462	59619291	1216	35491										
RNF40	9810	genome.wustl.edu	37	chr16	30780684	30780684	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctgcgggaggagaaggatGagttgggcgagcaggtcctt	19	6	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30780684G>T	ENST00000324685.6	+	16	2860	c.2425G>T	c.(2425-2427)Gag>Tag	p.E809*	RNF40_ENST00000563683.1_Nonsense_Mutation_p.E769*|RNF40_ENST00000357890.5_Nonsense_Mutation_p.E709*|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000402121.3_Nonsense_Mutation_p.E501*	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	809					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGAGAAGGATGAGTTGGGCGA	0.582																																																	0													107	111	109					16																	30780684		2197	4300	6497	SO:0001587	stop_gained	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2425G>T	16.37:g.30780684G>T	ENSP00000325677:p.Glu809*		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Nonsense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E809*	ENST00000324685.6	37	c.2425	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	40	8.220461	0.98712	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-37.1002	19.1176	0.93348	0.0:0.0:1.0:0.0	.	.	.	.	X	809;709;501;141	.	ENSP00000325677:E809X	E	+	1	0	RNF40	30688185	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.427000	0.73378	2.884000	0.98904	0.655000	0.94253	GAG	RNF40	-	NULL		0.582	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30780684	1	no_errors	ENST00000324685	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	30780684	G	T	30780684	4	4	185	1	0	0	0	0	0	1	0	0	13523	1291	45	3	2483	3	RNF40	16	30780684	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	45222	30780684	59574069	1217	35492										
RNF40	9810	genome.wustl.edu	37	chr16	30783259	30783259	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggcagagagccgggctgctCgtgagaaagagagcttcaac	15	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30783259C>G	ENST00000324685.6	+	18	3127	c.2692C>G	c.(2692-2694)Cgt>Ggt	p.R898G	RNF40_ENST00000563683.1_Missense_Mutation_p.R858G|RNF40_ENST00000357890.5_Missense_Mutation_p.R798G|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000402121.3_Missense_Mutation_p.R590G	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	898					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R898S(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCGGGCTGCTCGTGAGAAAGA	0.662																																																	1	Substitution - Missense(1)	lung(1)											35	36	35					16																	30783259		2197	4296	6493	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2692C>G	16.37:g.30783259C>G	ENSP00000325677:p.Arg898Gly		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R898G	ENST00000324685.6	37	c.2692	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	c	16.52	3.145861	0.57044	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.32753	1.44;1.44;1.45	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	L	0.57536	1.79	0.53005	D	0.999962	B;P;D;P;P	0.63880	0.431;0.585;0.993;0.941;0.881	B;B;P;P;B	0.60886	0.222;0.365;0.88;0.604;0.441	T	0.31806	-0.9930	10	0.48119	T	0.1	-11.7604	12.1806	0.54210	0.273:0.7269:0.0:0.0	.	230;590;798;898;898	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	G	898;798;590;230	ENSP00000325677:R898G;ENSP00000350563:R798G;ENSP00000384942:R590G	ENSP00000325677:R898G	R	+	1	0	RNF40	30690760	1.000000	0.71417	0.859000	0.33776	0.985000	0.73830	3.721000	0.54941	2.718000	0.92993	0.651000	0.88453	CGT	RNF40	-	NULL		0.662	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	C	NM_014771		30783259	1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	0.996	G	G	30783259	C	G	30783259	3	3	185	1	0	0	0	0	1	0	0	0	13523	884	31	1	2758	1	RNF40	16	30783259	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2575	30783259	59571494	1218	35493										
SETD1A	9739	genome.wustl.edu	37	chr16	30991903	30991903	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcgaaggctactaccccatCagcaagaaggagaaggacaa	11	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:30991903C>T	ENST00000262519.8	+	15	5192	c.4506C>T	c.(4504-4506)atC>atT	p.I1502I		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1502	Interaction with ASH2L, RBBP5 and WDR5.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTACCCCATCAGCAAGAAGG	0.672																																																	0													75	63	67					16																	30991903		2197	4300	6497	SO:0001819	synonymous_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4506C>T	16.37:g.30991903C>T			A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.I1502	ENST00000262519.8	37	c.4506	CCDS32435.1	16																																																																																			SETD1A	-	pfam_COMPASS_Set1_N-SET		0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	C	NM_014712		30991903	1	no_errors	ENST00000262519	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30991903	C	T	30991903	2	4	185	1	0	0	0	0	0	0	0	1	14160	816	29	1		1	SETD1A	16	30991903	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	208644	30991903	59362850	1219	35494										
ZNF668	79759	genome.wustl.edu	37	chr16	31075701	31075701	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtttggaaatgtcttggtaCaggacacgcacttgtagcgg	13	8	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:31075701C>G	ENST00000538906.1	-	2	864	c.80G>C	c.(79-81)tGt>tCt	p.C27S	ZNF668_ENST00000300849.4_Missense_Mutation_p.C27S|ZNF668_ENST00000535577.1_Missense_Mutation_p.C27S|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000539836.3_Missense_Mutation_p.C50S|ZNF668_ENST00000394983.2_Missense_Mutation_p.C27S|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.C50S	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGTCTTGGTACAGGACACGCA	0.657																																					Colon(181;1111 1980 5060 10512 25785)												0													49	54	52					16																	31075701		2197	4298	6495	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.80G>C	16.37:g.31075701C>G	ENSP00000440149:p.Cys27Ser		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C50S	ENST00000538906.1	37	c.149	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270643	0.80469	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000414399;ENST00000442862;ENST00000417935;ENST00000426488	T;T;T;T;T;T;T;T	0.70164	1.06;1.06;1.06;1.06;1.06;-0.46;2.53;0.29	4.73	4.73	0.59995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	N	0.24115	0.695	0.47905	D	0.999544	D	0.76494	0.999	D	0.85130	0.997	T	0.76438	-0.2959	10	0.72032	D	0.01	-12.7081	16.6644	0.85248	0.0:1.0:0.0:0.0	.	27	Q96K58	ZN668_HUMAN	S	50;27;27;27;27;27;27;27;27	ENSP00000442573:C50S;ENSP00000441349:C27S;ENSP00000440149:C27S;ENSP00000378434:C27S;ENSP00000300849:C27S;ENSP00000412340:C27S;ENSP00000416853:C27S;ENSP00000390671:C27S	ENSP00000300849:C27S	C	-	2	0	ZNF668	30983202	0.441000	0.25626	1.000000	0.80357	0.958000	0.62258	1.791000	0.38744	2.456000	0.83038	0.462000	0.41574	TGT	ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	C	NM_024706		31075701	-1	no_errors	ENST00000426488	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31075701	C	G	31075701	3	3	185	1	0	0	0	0	1	0	0	0	18105	478	17	4	1787	4	ZNF668	16	31075701	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	83798	31075701	59279052	1220	35495										
PRSS36	146547	genome.wustl.edu	37	chr16	31150460	31150460	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgctgggaccctagcccctCagctctggatcaggagagtc	13	13	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:31150460C>T	ENST00000268281.4	-	15	2625	c.2567G>A	c.(2566-2568)tGa>tAa	p.*856*	PRSS36_ENST00000569305.1_Silent_p.*851*|PRSS36_ENST00000418068.2_Silent_p.*753*	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	0						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCTAGCCCCTCAGCTCTGGAT	0.647																																																	0													51	52	51					16																	31150460		2197	4300	6497	SO:0001819	synonymous_variant	146547			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2567G>A	16.37:g.31150460C>T			A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_polyserase-2,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.*856	ENST00000268281.4	37	c.2567	CCDS32436.1	16																																																																																			PRSS36	-	NULL		0.647	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	C	NM_173502		31150460	-1	no_errors	ENST00000268281	ensembl	human	known	70_37	silent	SNP	0.988	T	T	31150460	C	T	31150460	2	4	185	1	0	0	0	0	0	0	0	1	12652	837	29	1		1	PRSS36	16	31150460	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	74759	31150460	59204293	1221	35496										
ZNF267	10308	genome.wustl.edu	37	chr16	31927750	31927750	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgtggcaaagcctttaactCtaggtcatacctcattgcac	7	11	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:31927750C>G	ENST00000300870.10	+	4	2389	c.2180C>G	c.(2179-2181)tCt>tGt	p.S727C		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	727					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GCCTTTAACTCTAGGTCATAC	0.383																																																	0													72	73	72					16																	31927750		2197	4300	6497	SO:0001583	missense	10308			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2180C>G	16.37:g.31927750C>G	ENSP00000300870:p.Ser727Cys		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S727C	ENST00000300870.10	37	c.2180	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	3.431	-0.116129	0.06881	.	.	ENSG00000185947	ENST00000300870	T	0.30182	1.54	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	L	0.38175	1.15	0.09310	N	0.999999	B	0.16603	0.018	B	0.06405	0.002	T	0.22591	-1.0212	9	0.41790	T	0.15	.	3.123	0.06397	0.4753:0.5244:1.0E-4:1.0E-4	.	727	Q14586	ZN267_HUMAN	C	727	ENSP00000300870:S727C	ENSP00000300870:S727C	S	+	2	0	ZNF267	31835251	0.000000	0.05858	0.289000	0.24876	0.270000	0.26580	-2.375000	0.01071	0.308000	0.22923	0.313000	0.20887	TCT	ZNF267	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	C	NM_003414		31927750	1	no_errors	ENST00000300870	ensembl	human	known	70_37	missense	SNP	0.000	G	G	31927750	C	G	31927750	3	3	185	1	0	0	0	0	1	0	0	0	17836	913	32	1	2194	1	ZNF267	16	31927750	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	777290	31927750	58427003	1222	35497										
ITFG1	81533	genome.wustl.edu	37	chr16	47292640	47292640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctttacttagcactacaatGtccaagattccctggaaaaa	5	11	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:47292640G>T	ENST00000320640.6	-	12	1461	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	ITFG1_ENST00000544001.2_Missense_Mutation_p.D298E|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	411						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GCACTACAATGTCCAAGATTC	0.284																																																	0													71	72	71					16																	47292640		2201	4297	6498	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1233C>A	16.37:g.47292640G>T	ENSP00000319918:p.Asp411Glu		Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	NULL	p.D411E	ENST00000320640.6	37	c.1233	CCDS10728.1	16	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627477	0.66901	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.61980	0.06;0.33	5.44	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77490	-0.2568	10	0.59425	D	0.04	-17.7656	9.1505	0.36959	0.2785:0.0:0.7215:0.0	.	298;411	F5GXC5;Q8TB96	.;TIP_HUMAN	E	411;71;156;298	ENSP00000319918:D411E;ENSP00000441062:D298E	ENSP00000319918:D411E	D	-	3	2	ITFG1	45850141	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.244000	0.43124	0.772000	0.33382	0.585000	0.79938	GAC	ITFG1	-	NULL		0.284	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	G	NM_030790		47292640	-1	no_errors	ENST00000320640	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47292640	G	T	47292640	3	4	185	1	0	0	0	0	1	0	0	0	7889	1368	48	4	633	4	ITFG1	16	47292640	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	15364890	47292640	43062113	1223	35498										
ABCC11	85320	genome.wustl.edu	37	chr16	48209285	48209285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgagaatccggcctgccatGggctccaccaggcggaagag	14	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:48209285G>A	ENST00000394747.1	-	25	3931	c.3582C>T	c.(3580-3582)ccC>ccT	p.P1194P	ABCC11_ENST00000394748.1_Silent_p.P1194P|ABCC11_ENST00000353782.5_Silent_p.P1194P|ABCC11_ENST00000356608.2_Silent_p.P1194P|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1194	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GGCCTGCCATGGGCTCCACCA	0.597																																																	0													57	51	53					16																	48209285		2201	4300	6501	SO:0001819	synonymous_variant	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3582C>T	16.37:g.48209285G>A			Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.P1194	ENST00000394747.1	37	c.3582	CCDS10732.1	16																																																																																			ABCC11	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.597	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	G	NM_032583		48209285	-1	no_errors	ENST00000356608	ensembl	human	known	70_37	silent	SNP	0.000	A	A	48209285	G	A	48209285	2	1	185	1	0	0	0	0	0	0	0	1	51	1335	47	4		4	ABCC11	16	48209285	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	916645	48209285	42145468	1224	35499										
CHD9	80205	genome.wustl.edu	37	chr16	53341657	53341657	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctgaaaggaaagtggccttCagctagaagaagttatgatg	12	5	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:53341657C>G	ENST00000398510.3	+	32	6932	c.6845C>G	c.(6844-6846)tCa>tGa	p.S2282*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.S2283*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.S2282*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.S2282*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2282					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAGTGGCCTTCAGCTAGAAGA	0.418																																																	0													57	58	58					16																	53341657		1921	4127	6048	SO:0001587	stop_gained	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6845C>G	16.37:g.53341657C>G	ENSP00000381522:p.Ser2282*		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S2282*	ENST00000398510.3	37	c.6845		16	.	.	.	.	.	.	.	.	.	.	C	48	14.621257	0.99803	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	.	.	.	5.71	5.71	0.89125	.	0.000000	0.47852	D	0.000209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.8736	20.2245	0.98337	0.0:1.0:0.0:0.0	.	.	.	.	X	2283;2282;348	.	ENSP00000381522:S2282X	S	+	2	0	CHD9	51899158	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	2.457000	0.45005	2.861000	0.98227	0.650000	0.86243	TCA	CHD9	-	NULL		0.418	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	C	NM_025134		53341657	1	no_errors	ENST00000398510	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	53341657	C	G	53341657	4	3	185	1	0	0	0	0	0	1	0	0	3337	838	29	1	6971	1	CHD9	16	53341657	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5132372	53341657	37013096	1225	35500										
MMP2	4313	genome.wustl.edu	37	chr16	55536739	55536739	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctggcttccccaagctcatCgcagatgcctggaatgccat	9	15	1	1	rs375769898		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:55536739C>G	ENST00000219070.4	+	12	2327	c.1818C>G	c.(1816-1818)atC>atG	p.I606M	MMP2_ENST00000437642.2_Missense_Mutation_p.I556M|MMP2_ENST00000570308.1_Missense_Mutation_p.I530M|MMP2_ENST00000543485.1_Missense_Mutation_p.I530M	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	606	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CCAAGCTCATCGCAGATGCCT	0.552																																																	0													88	74	78					16																	55536739		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1818C>G	16.37:g.55536739C>G	ENSP00000219070:p.Ile606Met		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.I606M	ENST00000219070.4	37	c.1818	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653231	0.67472	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.04917	3.53;3.53;3.53	5.63	-2.94	0.05581	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.91635	0.989;0.999	T	0.02484	-1.1152	10	0.87932	D	0	.	6.9015	0.24285	0.143:0.1908:0.0:0.6662	.	556;606	E9PE45;P08253	.;MMP2_HUMAN	M	606;530;556	ENSP00000219070:I606M;ENSP00000444143:I530M;ENSP00000394237:I556M	ENSP00000219070:I606M	I	+	3	3	MMP2	54094240	0.518000	0.26234	0.895000	0.35142	0.965000	0.64279	-0.232000	0.09055	-0.128000	0.11641	0.561000	0.74099	ATC	MMP2	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.552	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	C			55536739	1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	0.966	G	G	55536739	C	G	55536739	3	3	185	1	0	0	0	0	1	0	0	0	9681	874	31	1	1871	1	MMP2	16	55536739	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2195082	55536739	34818014	1226	35501										
MMP2	4313	genome.wustl.edu	37	chr16	55539267	55539267	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaggtcacagctacttcttCaagggtgcctattacctgaa	8	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:55539267C>G	ENST00000219070.4	+	13	2405	c.1896C>G	c.(1894-1896)ttC>ttG	p.F632L	MMP2_ENST00000437642.2_Missense_Mutation_p.F582L|MMP2_ENST00000570308.1_Missense_Mutation_p.F556L|MMP2_ENST00000543485.1_Missense_Mutation_p.F556L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	632	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GCTACTTCTTCAAGGGTGCCT	0.507																																																	0													162	159	160					16																	55539267		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1896C>G	16.37:g.55539267C>G	ENSP00000219070:p.Phe632Leu		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.F632L	ENST00000219070.4	37	c.1896	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037568	0.54896	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.22743	1.94;1.94;1.94	5.38	4.43	0.53597	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	M	0.88105	2.93	0.80722	D	1	P;D	0.89917	0.787;1.0	B;D	0.71414	0.419;0.973	T	0.55774	-0.8088	10	0.38643	T	0.18	.	13.2135	0.59839	0.0:0.9215:0.0:0.0785	.	582;632	E9PE45;P08253	.;MMP2_HUMAN	L	632;556;582	ENSP00000219070:F632L;ENSP00000444143:F556L;ENSP00000394237:F582L	ENSP00000219070:F632L	F	+	3	2	MMP2	54096768	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.245000	0.51407	1.280000	0.44463	0.563000	0.77884	TTC	MMP2	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.507	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	C			55539267	1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	1.000	G	G	55539267	C	G	55539267	3	3	185	1	0	0	0	0	1	0	0	0	9681	825	29	1	1953	1	MMP2	16	55539267	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2528	55539267	34815486	1227	35502										
CETP	1071	genome.wustl.edu	37	chr16	57017521	57017521	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagggcttcctgctgctgcaGatggactttggcttccctga	12	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:57017521G>A	ENST00000566128.1	+	16	1497	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	CETP_ENST00000379780.2_Silent_p.Q415Q|CETP_ENST00000200676.3_Silent_p.Q475Q					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGCTGCTGCAGATGGACTTTG	0.617																																																	0													118	111	113					16																	57017521		2198	4300	6498	SO:0001819	synonymous_variant	1071			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1230G>A	16.37:g.57017521G>A				Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.Q475	ENST00000566128.1	37	c.1425		16																																																																																			CETP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer		0.617	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	CETP	HGNC	protein_coding	OTTHUMT00000432305.1	G	NM_000078		57017521	1	no_errors	ENST00000200676	ensembl	human	known	70_37	silent	SNP	1.000	A	A	57017521	G	A	57017521	2	1	185	1	0	0	0	0	0	0	0	1	3282	933	33	1		1	CETP	16	57017521	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1478254	57017521	33337232	1228	35503										
NDRG4	65009	genome.wustl.edu	37	chr16	58538089	58538089	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcaacaccttcttcaacttCgaggacatgcaggagatcac	7	12	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:58538089C>G	ENST00000570248.1	+	3	265	c.159C>G	c.(157-159)ttC>ttG	p.F53L	NDRG4_ENST00000563799.1_Missense_Mutation_p.F71L|NDRG4_ENST00000562999.1_Missense_Mutation_p.F53L|NDRG4_ENST00000394279.2_Missense_Mutation_p.F85L|NDRG4_ENST00000258187.5_Missense_Mutation_p.F85L|NDRG4_ENST00000394282.4_Missense_Mutation_p.F105L|NDRG4_ENST00000356752.4_Missense_Mutation_p.F83L|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000566192.1_Missense_Mutation_p.F53L|NDRG4_ENST00000568640.1_Missense_Mutation_p.F71L	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	53					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCTTCAACTTCGAGGACATGC	0.577																																																	0													126	127	127					16																	58538089		2198	4300	6498	SO:0001583	missense	65009			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.159C>G	16.37:g.58538089C>G	ENSP00000457659:p.Phe53Leu		B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	pfam_Ndr	p.F105L	ENST00000570248.1	37	c.315	CCDS58466.1	16	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970116	0.53614	.	.	ENSG00000103034	ENST00000258187;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.25	-10.5	0.00291	.	0.287781	0.37906	N	0.001891	T	0.15825	0.0381	M	0.80183	2.485	0.28542	N	0.91204	B;B;B;B;B;B;B	0.17268	0.001;0.001;0.0;0.0;0.0;0.021;0.006	B;B;B;B;B;B;B	0.14578	0.001;0.001;0.002;0.0;0.0;0.011;0.011	T	0.07195	-1.0785	10	0.54805	T	0.06	-13.0847	11.4585	0.50195	0.0:0.2183:0.1422:0.6395	.	71;83;71;53;53;105;85	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	L	85;105;85;83	ENSP00000258187:F85L;ENSP00000377823:F105L;ENSP00000377820:F85L;ENSP00000349193:F83L	ENSP00000258187:F85L	F	+	3	2	NDRG4	57095590	0.000000	0.05858	0.485000	0.27403	0.994000	0.84299	-3.528000	0.00441	-2.151000	0.00795	-0.258000	0.10820	TTC	NDRG4	-	pfam_Ndr		0.577	NDRG4-009	KNOWN	basic|CCDS	protein_coding	NDRG4	HGNC	protein_coding	OTTHUMT00000422671.2	C			58538089	1	no_errors	ENST00000394282	ensembl	human	known	70_37	missense	SNP	0.150	G	G	58538089	C	G	58538089	3	3	185	1	0	0	0	0	1	0	0	0	10278	883	31	1	333	1	NDRG4	16	58538089	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1520568	58538089	31816664	1229	35504										
CMTM1	113540	genome.wustl.edu	37	chr16	66612745	66612745	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atctgacagtccctgtgtctCacagcggtaatcgtgtgttg	11	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:66612745C>T	ENST00000457188.2	+	4	472	c.351C>T	c.(349-351)ctC>ctT	p.L117L	CMTM1_ENST00000332695.7_Silent_p.L70L|CMTM1_ENST00000379500.2_Silent_p.L234L|CMTM1_ENST00000533953.1_Silent_p.L186L|CMTM2_ENST00000379486.2_5'Flank|RP11-403P17.2_ENST00000568430.1_RNA|CKLF-CMTM1_ENST00000527729.1_Silent_p.L63L|CMTM1_ENST00000328020.6_Intron|CMTM2_ENST00000268595.2_5'Flank|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000529506.1_Silent_p.L18L|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000336328.6_Silent_p.L64L|CMTM1_ENST00000528324.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	117	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CCCTGTGTCTCACAGCGGTAA	0.488																																																	0													174	143	153					16																	66612745		2201	4300	6501	SO:0001819	synonymous_variant	113540			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.351C>T	16.37:g.66612745C>T			Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	NULL	p.L70	ENST00000457188.2	37	c.210	CCDS45503.1	16																																																																																			CMTM1	-	NULL		0.488	CMTM1-015	NOVEL	basic|CCDS	protein_coding	CMTM1	HGNC	protein_coding	OTTHUMT00000390261.2	C	NM_052999		66612745	1	no_errors	ENST00000332695	ensembl	human	known	70_37	silent	SNP	0.893	T	T	66612745	C	T	66612745	2	4	185	1	0	0	0	0	0	0	0	1	3587	813	29	1		1	CMTM1	16	66612745	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	8074656	66612745	23742008	1230	35505										
SLC9A5	6553	genome.wustl.edu	37	chr16	67283103	67283103	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtggccagtctggccaaaatCggtgagtgcgtgtgtgcgtg	17	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:67283103C>T	ENST00000299798.11	+	1	251	c.186C>T	c.(184-186)atC>atT	p.I62I	FHOD1_ENST00000258201.4_5'Flank|SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	62					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGCCAAAATCGGTGAGTGCG	0.682																																																	0													33	48	43					16																	67283103		2044	4186	6230	SO:0001630	splice_region_variant	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.187+1C>T	16.37:g.67283103C>T			A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.I62	ENST00000299798.11	37	c.186	CCDS42178.1	16																																																																																			SLC9A5	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.682	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	C		Silent	67283103	1	no_errors	ENST00000299798	ensembl	human	known	70_37	silent	SNP	0.977	T	T	67283103	C	T	67283103	5	4	185	1	0	0	0	0	0	0	1	0	14747	898	31	1	188	1	SLC9A5	16	67283103	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	670358	67283103	23071650	1231	35506										
SLC9A5	6553	genome.wustl.edu	37	chr16	67290582	67290582	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcatcttcatcctgttcttCcgagccctcggtattgctgg	8	14	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:67290582C>T	ENST00000299798.11	+	6	1187	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	374					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCCTGTTCTTCCGAGCCCTCG	0.577																																																	0													155	156	156					16																	67290582		2096	4213	6309	SO:0001819	synonymous_variant	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1122C>T	16.37:g.67290582C>T			A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F374	ENST00000299798.11	37	c.1122	CCDS42178.1	16																																																																																			SLC9A5	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.577	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	C			67290582	1	no_errors	ENST00000299798	ensembl	human	known	70_37	silent	SNP	1.000	T	T	67290582	C	T	67290582	2	4	185	1	0	0	0	0	0	0	0	1	14747	854	30	1		1	SLC9A5	16	67290582	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7479	67290582	23064171	1232	35507										
PLEKHG4	25894	genome.wustl.edu	37	chr16	67314851	67314851	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagcccagcctggcttcagtCtgagtgcagcagccaggaac	12	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:67314851C>G	ENST00000360461.5	+	3	3197	c.662C>G	c.(661-663)tCt>tGt	p.S221C	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.S140C|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.S221C|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.S221C	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	221							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGCTTCAGTCTGAGTGCAGC	0.622																																																	0													43	42	42					16																	67314851		2198	4300	6498	SO:0001583	missense	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.662C>G	16.37:g.67314851C>G	ENSP00000353646:p.Ser221Cys		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S221C	ENST00000360461.5	37	c.662	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604581	0.66445	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.53	4.58	0.56647	.	1.122640	0.07031	N	0.828362	T	0.19685	0.0473	N	0.19112	0.55	0.24451	N	0.994483	P;P;P	0.39696	0.683;0.49;0.556	B;B;B	0.36418	0.224;0.213;0.112	T	0.21621	-1.0240	10	0.87932	D	0	.	10.4709	0.44635	0.0:0.9102:0.0:0.0898	.	140;28;221	Q58EX7-2;B4E3H4;Q58EX7	.;.;PKHG4_HUMAN	C	221;221;221;140	ENSP00000353646:S221C;ENSP00000401118:S221C;ENSP00000368649:S221C;ENSP00000398030:S140C	ENSP00000353646:S221C	S	+	2	0	PLEKHG4	65872352	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.217000	0.51184	1.330000	0.45394	0.453000	0.30009	TCT	PLEKHG4	-	superfamily_CRAL-TRIO_dom		0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	C	NM_015432		67314851	1	no_errors	ENST00000360461	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67314851	C	G	67314851	3	3	185	1	0	0	0	0	1	0	0	0	12095	913	32	1	672	1	PLEKHG4	16	67314851	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	24269	67314851	23039902	1233	35508										
PSMB10	5699	genome.wustl.edu	37	chr16	67970608	67970608	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgcttcacctttggcagttCtcgaaggagaagccccctcg	10	15	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:67970608C>G	ENST00000358514.4	-	1	382	c.45G>C	c.(43-45)gaG>gaC	p.E15D	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	15					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	TTTGGCAGTTCTCGAAGGAGA	0.677																																																	0													5	8	7					16																	67970608		2095	4114	6209	SO:0001583	missense	5699			Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"Proteasome (prosome, macropain) subunits"	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.45G>C	16.37:g.67970608C>G	ENSP00000351314:p.Glu15Asp		B2R5J4|Q5U098	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB	p.E15D	ENST00000358514.4	37	c.45	CCDS10853.1	16	.	.	.	.	.	.	.	.	.	.	c	8.485	0.860682	0.17178	.	.	ENSG00000205220	ENST00000358514	T	0.33216	1.42	5.4	-3.89	0.04193	.	0.212304	0.47455	N	0.000227	T	0.09335	0.0230	N	0.17248	0.465	0.45464	D	0.998431	B	0.09022	0.002	B	0.08055	0.003	T	0.38373	-0.9664	10	0.02654	T	1	-15.7112	1.1005	0.01683	0.1341:0.2455:0.2633:0.3571	.	15	P40306	PSB10_HUMAN	D	15	ENSP00000351314:E15D	ENSP00000351314:E15D	E	-	3	2	PSMB10	66528109	0.592000	0.26832	0.992000	0.48379	0.878000	0.50629	-0.479000	0.06567	-0.217000	0.10033	0.537000	0.68136	GAG	PSMB10	-	NULL		0.677	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB10	HGNC	protein_coding	OTTHUMT00000268887.1	C	NM_002801		67970608	-1	no_errors	ENST00000358514	ensembl	human	known	70_37	missense	SNP	0.955	G	G	67970608	C	G	67970608	3	3	185	1	0	0	0	0	1	0	0	0	12702	912	32	1	808	1	PSMB10	16	67970608	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	655757	67970608	22384145	1234	35509										
NFATC3	4775	genome.wustl.edu	37	chr16	68224713	68224713	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaagagattgatttgtcttCagttccatctttgcctgtgc	9	8	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:68224713C>G	ENST00000346183.3	+	9	2165	c.2141C>G	c.(2140-2142)tCa>tGa	p.S714*	NFATC3_ENST00000535127.2_3'UTR|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000575270.1_Nonsense_Mutation_p.S714*|NFATC3_ENST00000349223.5_Nonsense_Mutation_p.S714*|NFATC3_ENST00000329524.4_Nonsense_Mutation_p.S714*	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	714					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GATTTGTCTTCAGTTCCATCT	0.383																																																	0													105	98	100					16																	68224713		2198	4300	6498	SO:0001587	stop_gained	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2141C>G	16.37:g.68224713C>G	ENSP00000300659:p.Ser714*		O75211|Q14516|Q99840|Q99841|Q99842	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S714*	ENST00000346183.3	37	c.2141	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.118876	0.94385	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	.	.	.	5.55	5.55	0.83447	.	0.473004	0.21810	N	0.068793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-8.8507	14.359	0.66757	0.148:0.852:0.0:0.0	.	.	.	.	X	714;714;714;235	.	ENSP00000331324:S714X	S	+	2	0	NFATC3	66782214	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.439000	0.66556	2.617000	0.88574	0.557000	0.71058	TCA	NFATC3	-	NULL		0.383	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	C	NM_004555		68224713	1	no_errors	ENST00000346183	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	68224713	C	G	68224713	4	3	185	1	0	0	0	0	0	1	0	0	10388	838	29	1	2175	1	NFATC3	16	68224713	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	254105	68224713	22130040	1235	35510										
HAS3	54921	genome.wustl.edu	37	chr16	69152355	69152355	+	3'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaccaacgccacgtttctaGagagcagtgagctgattctc	9	12	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:69152355G>C	ENST00000448552.2	-	0	2460				CHTF8_ENST00000518041.1_3'UTR|CHTF8_ENST00000523421.1_3'UTR|CHTF8_ENST00000306585.6_3'UTR|HAS3_ENST00000219322.3_Missense_Mutation_p.R279T	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CACGTTTCTAGAGAGCAGTGA	0.537																																																	0													106	82	90					16																	69152355		2198	4300	6498	SO:0001624	3_prime_UTR_variant	3038				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.*1973C>G	16.37:g.69152355G>C			A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	NULL	p.R279T	ENST00000448552.2	37	c.836	CCDS42185.1	16	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966084	0.34659	.	.	ENSG00000103044	ENST00000219322	T	0.48836	0.8	5.07	0.149	0.14863	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.47994	D	0.999567	B	0.02656	0.0	B	0.01281	0.0	T	0.30504	-0.9976	8	0.87932	D	0	.	0.7337	0.00961	0.2361:0.1852:0.3886:0.1901	.	279	O00219-2	.	T	279	ENSP00000219322:R279T	ENSP00000219322:R279T	R	+	2	0	HAS3	67709856	0.987000	0.35691	0.922000	0.36590	0.972000	0.66771	0.188000	0.17018	0.232000	0.21100	0.655000	0.94253	AGA	HAS3	-	NULL		0.537	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000376352.2	G	NM_017804		69152355	1	no_errors	ENST00000219322	ensembl	human	known	70_37	missense	SNP	0.780	C	C	69152355	G	C	69152355	1	2	185	0	1	0	0	0	0	0	0	0	6983	942	33	1		1	HAS3	16	69152355	3'UTR	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	927642	69152355	21202398	1236	35511										
CIRH1A	84916	genome.wustl.edu	37	chr16	69199375	69199375	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agttttcatcccaagagaccGatgcacatccttctccatga	6	13	2	2	rs375859741		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:69199375G>A	ENST00000314423.7	+	15	1956	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	CIRH1A_ENST00000352319.4_Silent_p.P478P|CIRH1A_ENST00000563094.1_Silent_p.P593P			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	593					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCAAGAGACCGATGCACATCC	0.458																																					Melanoma(69;1156 1278 4951 8715 52012)												0								G		0,4396		0,0,2198	189	146	160		1779	-2.4	1	16		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CIRH1A	NM_032830.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		593/687	69199375	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1779G>A	16.37:g.69199375G>A			Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.P593	ENST00000314423.7	37	c.1779	CCDS10872.1	16																																																																																			CIRH1A	-	NULL		0.458	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIRH1A	HGNC	protein_coding	OTTHUMT00000268950.2	G	NM_032830		69199375	1	no_errors	ENST00000314423	ensembl	human	known	70_37	silent	SNP	0.883	A	A	69199375	G	A	69199375	2	1	185	1	0	0	0	0	0	0	0	1	3439	1045	37	1		1	CIRH1A	16	69199375	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	47020	69199375	21155378	1237	35512										
NFAT5	10725	genome.wustl.edu	37	chr16	69681372	69681372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcagaggccgggggtcaaacGacgagattgtgaagaatcta	15	7	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:69681372G>A	ENST00000354436.2	+	3	959	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	NFAT5_ENST00000566899.1_Missense_Mutation_p.R138Q|NFAT5_ENST00000567239.1_Missense_Mutation_p.R232Q|NFAT5_ENST00000393742.2_Missense_Mutation_p.R138Q|NFAT5_ENST00000349945.1_Missense_Mutation_p.R138Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.R232Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	214					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGGGTCAAACGACGAGATTGT	0.448																																																	0													66	67	66					16																	69681372		2198	4300	6498	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.641G>A	16.37:g.69681372G>A	ENSP00000346420:p.Arg214Gln		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.R232Q	ENST00000354436.2	37	c.695	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496888	0.64186	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.46819	0.86;0.86;0.87;0.86	5.56	5.56	0.83823	.	0.215770	0.41712	D	0.000838	T	0.48352	0.1495	N	0.19112	0.55	0.45554	D	0.998509	D;D;D	0.76494	0.995;0.995;0.999	P;P;P	0.55785	0.784;0.784;0.637	T	0.32981	-0.9886	10	0.20519	T	0.43	-2.5432	19.5215	0.95187	0.0:0.0:1.0:0.0	.	232;214;232	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	Q	232;232;138;214;138	ENSP00000396538:R232Q;ENSP00000338806:R138Q;ENSP00000346420:R214Q;ENSP00000377343:R138Q	ENSP00000338806:R138Q	R	+	2	0	NFAT5	68238873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.958000	0.56737	2.597000	0.87782	0.650000	0.86243	CGA	NFAT5	-	NULL		0.448	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	G	NM_138714		69681372	1	no_errors	ENST00000432919	ensembl	human	known	70_37	missense	SNP	1.000	A	A	69681372	G	A	69681372	3	1	185	1	0	0	0	0	1	0	0	0	10384	1058	37	1	709	1	NFAT5	16	69681372	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	481997	69681372	20673381	1238	35513										
HYDIN	54768	genome.wustl.edu	37	chr16	70952271	70952271	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaccgggtaggagacgattGagaataaggcgggaggcggg	19	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:70952271G>A	ENST00000393567.2	-	47	7997	c.7847C>T	c.(7846-7848)tCa>tTa	p.S2616L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2616					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGACGATTGAGAATAAGGC	0.517																																																	0													2	2	2					16																	70952271		1357	3128	4485	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7847C>T	16.37:g.70952271G>A	ENSP00000377197:p.Ser2616Leu		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.S2615L	ENST00000393567.2	37	c.7844	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976626	0.74360	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01745	4.66	5.76	5.76	0.90799	.	0.000000	0.30235	U	0.010098	T	0.09862	0.0242	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00599	-1.1651	10	0.56958	D	0.05	.	18.524	0.90965	0.0:0.0:1.0:0.0	.	2615	F8WD23	.	L	2616;2615	ENSP00000377197:S2616L	ENSP00000313052:S2615L	S	-	2	0	HYDIN	69509772	1.000000	0.71417	0.960000	0.40013	0.118000	0.20060	7.148000	0.77389	2.721000	0.93114	0.514000	0.50259	TCA	HYDIN	-	NULL		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	G			70952271	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.997	A	A	70952271	G	A	70952271	3	1	185	1	0	0	0	0	1	0	0	0	7487	1294	45	1	7678	1	HYDIN	16	70952271	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1270899	70952271	19402482	1239	35514										
HYDIN	54768	genome.wustl.edu	37	chr16	71019146	71019146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtctggagaagactggtggTcagtcagaaccttgaactca	12	8	4	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:71019146T>C	ENST00000393567.2	-	28	4424	c.4274A>G	c.(4273-4275)gAc>gGc	p.D1425G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1425					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGACTGGTGGTCAGTCAGAAC	0.502																																																	0																																										SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4274A>G	16.37:g.71019146T>C	ENSP00000377197:p.Asp1425Gly		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.D1424G	ENST00000393567.2	37	c.4271	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	9.504	1.104062	0.20632	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	4.75	-0.329	0.12686	.	.	.	.	.	T	0.00784	0.0026	L	0.31664	0.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45818	-0.9235	9	0.22109	T	0.4	.	5.3006	0.15776	0.0:0.3443:0.1518:0.504	.	1424	F8WD23	.	G	1425;1424	ENSP00000377197:D1425G	ENSP00000313052:D1424G	D	-	2	0	HYDIN	69576647	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.045000	0.14013	0.082000	0.17018	0.496000	0.49642	GAC	HYDIN	-	NULL		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	T			71019146	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.000	C	C	71019146	T	C	71019146	3	2	185	1	0	0	0	0	1	0	0	0	7487	1667	58	5	11327	5	HYDIN	16	71019146	Missense_Mutation	SNP	T	TCGA-Q1-A73O-01A-11D-A32I-09	66875	71019146	19335607	1240	35515										
ZFHX3	463	genome.wustl.edu	37	chr16	72827610	72827610	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcattctggaaccagacctGaacgactctctttggcagtc	10	12	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:72827610G>A	ENST00000268489.5	-	9	9643	c.8971C>T	c.(8971-8973)Cag>Tag	p.Q2991*	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q2077*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2991					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACCAGACCTGAACGACTCTC	0.468																																																	0													138	132	134					16																	72827610		2198	4300	6498	SO:0001587	stop_gained	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8971C>T	16.37:g.72827610G>A	ENSP00000268489:p.Gln2991*		D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q2991*	ENST00000268489.5	37	c.8971	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	52	19.827647	0.99924	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	6.17	6.17	0.99709	.	0.000000	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	2991;2077	.	ENSP00000268489:Q2991X	Q	-	1	0	ZFHX3	71385111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAG	ZFHX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.468	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72827610	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	72827610	G	A	72827610	4	1	185	1	0	0	0	0	0	1	0	0	17664	1299	45	1	2148	1	ZFHX3	16	72827610	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1808464	72827610	17527143	1241	35516										
CNTNAP4	85445	genome.wustl.edu	37	chr16	76572100	76572100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taaaaactccagctcccacgCtgcttcatttcatggtgata	6	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:76572100C>A	ENST00000476707.1	+	18	3231	c.3092C>A	c.(3091-3093)gCt>gAt	p.A1031D	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A1027D|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A955D|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A979D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1028					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGCTCCCACGCTGCTTCATTT	0.363																																																	0													59	56	57					16																	76572100		1823	4088	5911	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3092C>A	16.37:g.76572100C>A	ENSP00000417628:p.Ala1031Asp		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A1027D	ENST00000476707.1	37	c.3080		16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559271	0.86335	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.172724	0.27604	N	0.018637	T	0.63046	0.2478	.	.	.	0.46609	D	0.999121	P;D;D	0.58620	0.913;0.957;0.983	P;P;P	0.61800	0.638;0.71;0.894	T	0.62676	-0.6804	9	0.51188	T	0.08	.	19.2614	0.93970	0.0:1.0:0.0:0.0	.	955;1031;1028	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	D	1027;979;955;1031	ENSP00000306893:A1027D;ENSP00000439733:A979D;ENSP00000418741:A955D;ENSP00000417628:A1031D	ENSP00000306893:A1027D	A	+	2	0	CNTNAP4	75129601	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.120000	0.64685	2.769000	0.95229	0.655000	0.94253	GCT	CNTNAP4	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.363	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	C	NM_033401		76572100	1	no_errors	ENST00000307431	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76572100	C	A	76572100	3	1	185	1	0	0	0	0	1	0	0	0	3654	797	28	4	3170	4	CNTNAP4	16	76572100	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3744490	76572100	13782653	1242	35517										
SLC7A5	8140	genome.wustl.edu	37	chr16	87902738	87902738	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcgtagcagagcgcgcccacGatggagaagacgccgcacgc	15	14	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:87902738G>A	ENST00000261622.4	-	1	356	c.291C>T	c.(289-291)atC>atT	p.I97I		NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	97					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GCGCGCCCACGATGGAGAAGA	0.701																																																	0													24	27	26					16																	87902738		2195	4295	6490	SO:0001819	synonymous_variant	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.291C>T	16.37:g.87902738G>A			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.I97	ENST00000261622.4	37	c.291	CCDS10964.1	16																																																																																			SLC7A5	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter		0.701	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A5	HGNC	protein_coding	OTTHUMT00000269110.2	G	NM_003486		87902738	-1	no_errors	ENST00000261622	ensembl	human	known	70_37	silent	SNP	1.000	A	A	87902738	G	A	87902738	2	1	185	1	0	0	0	0	0	0	0	1	14730	1048	37	1		1	SLC7A5	16	87902738	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11330638	87902738	2452015	1243	35518										
ZC3H18	124245	genome.wustl.edu	37	chr16	88694028	88694028	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgagatgtgcttgtgtgtccAggtccctgagcgtgagcagc	15	9	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:88694028A>T	ENST00000301011.5	+	14	2308		c.e14-1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TTGTGTGTCCAGGTCCCTGAG	0.602																																					Ovarian(121;375 2276 20373 38669)												0													138	98	112					16																	88694028		2198	4300	6498	SO:0001630	splice_region_variant	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2109-1A>T	16.37:g.88694028A>T			Q96DG4|Q96MP7	Splice_Site	SNP	-	e13-2	ENST00000301011.5	37	c.2109-2	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	A	12.23	1.875711	0.33162	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4408	0.67314	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H18	87221529	1.000000	0.71417	0.890000	0.34922	0.102000	0.19082	8.932000	0.92897	1.882000	0.54519	0.402000	0.26972	.	ZC3H18	-	-		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	A	NM_144604	Intron	88694028	1	no_errors	ENST00000301011	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	88694028	A	T	88694028	5	4	185	1	0	0	0	0	0	0	1	0	17598	202	7	5	2157	5	ZC3H18	16	88694028	Splice_Site	SNP	A	TCGA-Q1-A73O-01A-11D-A32I-09	791290	88694028	1660725	1244	35519										
IL17C	27189	genome.wustl.edu	37	chr16	88705630	88705630	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggggaggcacgagaggccctCagctacgacccagtgcccgg	16	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:88705630C>T	ENST00000244241.4	+	2	297	c.248C>T	c.(247-249)tCa>tTa	p.S83L		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	83					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GAGAGGCCCTCAGCTACGACC	0.677																																																	0													24	32	29					16																	88705630		2171	4280	6451	SO:0001583	missense	27189			AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.248C>T	16.37:g.88705630C>T	ENSP00000244241:p.Ser83Leu		Q3MIG8|Q9HC75	Missense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.S83L	ENST00000244241.4	37	c.248	CCDS42217.1	16	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910947	0.33721	.	.	ENSG00000124391	ENST00000244241	T	0.52983	0.64	5.05	-8.69	0.00855	.	1.694970	0.03464	N	0.212622	T	0.17195	0.0413	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08700	-1.0709	10	0.26408	T	0.33	0.2013	0.0368	0.00007	0.3069:0.179:0.2033:0.3108	.	83	Q9P0M4	IL17C_HUMAN	L	83	ENSP00000244241:S83L	ENSP00000244241:S83L	S	+	2	0	IL17C	87233131	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.704000	0.01898	-1.393000	0.02079	0.561000	0.74099	TCA	IL17C	-	pfam_Interleukin-17		0.677	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17C	HGNC	protein_coding	OTTHUMT00000422575.1	C	NM_013278		88705630	1	no_errors	ENST00000244241	ensembl	human	known	70_37	missense	SNP	0.000	T	T	88705630	C	T	88705630	3	4	185	1	0	0	0	0	1	0	0	0	7656	838	29	1	254	1	IL17C	16	88705630	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	11602	88705630	1649123	1245	35520										
ANKRD11	29123	genome.wustl.edu	37	chr16	89351174	89351174	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgtgctcctgcctcttcctCactggcttcagcgattccac	7	17	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:89351174C>T	ENST00000301030.4	-	9	2236	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V	ANKRD11_ENST00000378330.2_Silent_p.V592V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	592					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCTCTTCCTCACTGGCTTCA	0.587																																																	0													24	26	25					16																	89351174		2198	4300	6498	SO:0001819	synonymous_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1776G>A	16.37:g.89351174C>T			Q6NTG1|Q6QMF8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V592	ENST00000301030.4	37	c.1776	CCDS32513.1	16																																																																																			ANKRD11	-	NULL		0.587	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	C	NM_013275		89351174	-1	no_errors	ENST00000301030	ensembl	human	known	70_37	silent	SNP	0.000	T	T	89351174	C	T	89351174	2	4	185	1	0	0	0	0	0	0	0	1	639	813	29	1		1	ANKRD11	16	89351174	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	645544	89351174	1003579	1246	35521										
CDK10	8558	genome.wustl.edu	37	chr16	89758907	89758907	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcctccagtatctgcacagGaacttcattatccacaggtg	9	12	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:89758907G>C	ENST00000353379.7	+	6	511	c.468G>C	c.(466-468)agG>agC	p.R156S	CDK10_ENST00000331006.8_Missense_Mutation_p.R109S|CDK10_ENST00000505473.1_Missense_Mutation_p.R85S	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		ATCTGCACAGGAACTTCATTA	0.567																																																	0													85	77	80					16																	89758907		2198	4300	6498	SO:0001583	missense	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.468G>C	16.37:g.89758907G>C	ENSP00000338673:p.Arg156Ser		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R156S	ENST00000353379.7	37	c.468	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	3.407	-0.120949	0.06838	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.37752	1.18;1.18;1.18	4.51	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.660764	0.16561	N	0.209035	T	0.10208	0.0250	N	0.00855	-1.145	0.33740	D	0.619283	B;B;B;B;B;B	0.18013	0.001;0.001;0.0;0.0;0.001;0.025	B;B;B;B;B;B	0.20577	0.007;0.007;0.004;0.001;0.002;0.03	T	0.25847	-1.0120	10	0.08381	T	0.77	-17.6649	7.6784	0.28499	0.1018:0.1709:0.7273:0.0	.	150;85;156;85;85;114	B7Z319;A8K370;Q15131;Q15131-3;Q15131-4;Q59EI2	.;.;CDK10_HUMAN;.;.;.	S	109;127;85;156	ENSP00000329957:R109S;ENSP00000424415:R85S;ENSP00000338673:R156S	ENSP00000329957:R109S	R	+	3	2	CDK10	88286408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.418000	0.34782	2.333000	0.79357	0.491000	0.48974	AGG	CDK10	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.567	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	G			89758907	1	no_errors	ENST00000353379	ensembl	human	known	70_37	missense	SNP	1.000	C	C	89758907	G	C	89758907	3	2	185	1	0	0	0	0	1	0	0	0	3130	1165	41	1	490	1	CDK10	16	89758907	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	407733	89758907	595846	1247	35522										
SPIRE2	84501	genome.wustl.edu	37	chr16	89936089	89936089	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccagagaagagacatctttCagtgcgttcttcgccttgct	9	11	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr16:89936089C>G	ENST00000378247.3	+	14	1964	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E	SPIRE2_ENST00000393062.2_Intron	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	641					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGACATCTTTCAGTGCGTTCT	0.537																																																	0													135	97	110					16																	89936089		2198	4300	6498	SO:0001630	splice_region_variant	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1922+1C>G	16.37:g.89936089C>G			A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.Q641E	ENST00000378247.3	37	c.1921	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	c	13.22	2.173514	0.38413	.	.	ENSG00000204991	ENST00000378247	T	0.40756	1.02	5.14	5.14	0.70334	Zinc finger, FYVE/PHD-type (1);	0.267688	0.36972	N	0.002315	T	0.42040	0.1185	M	0.67953	2.075	0.80722	D	1	P;P;P	0.42871	0.792;0.792;0.75	B;B;B	0.40864	0.229;0.342;0.233	T	0.40251	-0.9573	10	0.07030	T	0.85	-10.7818	17.6049	0.88035	0.0:1.0:0.0:0.0	.	508;593;641	Q8WWL2-4;Q8WWL2-3;Q8WWL2	.;.;SPIR2_HUMAN	E	641	ENSP00000367494:Q641E	ENSP00000367494:Q641E	Q	+	1	0	SPIRE2	88463590	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	3.162000	0.50755	2.409000	0.81822	0.558000	0.71614	CAG	SPIRE2	-	superfamily_Znf_FYVE_PHD		0.537	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	C	XM_047462	Missense_Mutation	89936089	1	no_errors	ENST00000378247	ensembl	human	known	70_37	missense	SNP	1.000	G	G	89936089	C	G	89936089	5	3	185	1	0	0	0	0	0	0	1	0	15102	840	29	1	1975	1	SPIRE2	16	89936089	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	177182	89936089	418664	1248	35523										
VPS53	55275	genome.wustl.edu	37	chr17	600665	600666	+	Missense_Mutation	DNP	CC	CC	GT													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgagttacttacttgccgtCcatcctgccccacgttcgtc							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:600665_600666CC>GT	ENST00000571805.1	-	4	413_414	c.277_278GG>AC	c.(277-279)GGa>ACa	p.G93T	VPS53_ENST00000401468.3_Missense_Mutation_p.G93T|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.G93T|VPS53_ENST00000437048.2_Missense_Mutation_p.G93T			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	93					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TACTTGCCGTCCATCCTGCCCC	0.465																																																	0																																										SO:0001583	missense	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.277_278delinsGT	17.37:g.600665_600666delinsGT	ENSP00000459312:p.Gly93Thr		A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.G93A|p.G93R	ENST00000571805.1	37	c.278|c.277		17																																																																																			VPS53	-	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54		0.465	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	C	NM_018289		600665|600666	-1	no_errors	ENST00000437048	ensembl	human	known	70_37	missense	SNP	1.000	G|T	GT	600666	CC	GT	600665	3	3	185	1	0	0	0	0	1	0	0	0	17246	855	30	1	2311	1	VPS53	17	600665	Missense_Mutation	DNP	CC	TCGA-Q1-A73O-01A-11D-A32I-09		600665	80594545	1249	35524										
YWHAE	7531	genome.wustl.edu	37	chr17	1265207	1265207	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaacctacattttataataGaaaaccttggactcgccagt	6	9	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1265207G>C	ENST00000264335.8	-	3	627	c.360C>G	c.(358-360)ttC>ttG	p.F120L	YWHAE_ENST00000571732.1_Missense_Mutation_p.F98L|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	120					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TTTTATAATAGAAAACCTTGG	0.358			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																																	Dom	yes		17	17p13.3	7531	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	M	0													26	26	26					17																	1265207		2202	4283	6485	SO:0001583	missense	7531			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.360C>G	17.37:g.1265207G>C	ENSP00000264335:p.Phe120Leu		B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.F120L	ENST00000264335.8	37	c.360	CCDS11001.1	17	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663978	0.88251	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.61392	0.11	5.18	5.18	0.71444	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.79839	0.4515	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83792	0.0231	10	0.87932	D	0	-32.5302	9.8206	0.40880	0.0929:0.0:0.9071:0.0	.	120	P62258	1433E_HUMAN	L	120;98	ENSP00000264335:F120L	ENSP00000264335:F120L	F	-	3	2	YWHAE	1211957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.061000	0.89467	2.420000	0.82092	0.558000	0.71614	TTC	YWHAE	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.358	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAE	HGNC	protein_coding	OTTHUMT00000259354.3	G	NM_006761		1265207	-1	no_errors	ENST00000264335	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1265207	G	C	1265207	3	2	185	1	0	0	0	0	1	0	0	0	17533	933	33	1	423	1	YWHAE	17	1265207	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	664542	1265207	79930003	1250	35525										
WDR81	124997	genome.wustl.edu	37	chr17	1629280	1629280	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgggcaacccactggccagGaggaacttcggagcctcgtg	14	13	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1629280G>T	ENST00000409644.1	+	1	1027	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	343	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACTGGCCAGGAGGAACTTCG	0.627																																																	0													59	58	58					17																	1629280		692	1590	2282	SO:0001587	stop_gained	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1027G>T	17.37:g.1629280G>T	ENSP00000386609:p.Glu343*		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E343*	ENST00000409644.1	37	c.1027	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369114	0.61624	.	.	ENSG00000167716	ENST00000409644	.	.	.	5.93	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	4.6917	0.12785	0.3312:0.279:0.3898:0.0	.	.	.	.	X	343	.	ENSP00000386609:E343X	E	+	1	0	WDR81	1576030	0.973000	0.33851	0.974000	0.42286	0.031000	0.12232	0.877000	0.28106	0.374000	0.24650	0.563000	0.77884	GAG	WDR81	-	pfscan_BEACH_dom		0.627	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1629280	1	no_errors	ENST00000409644	ensembl	human	known	70_37	nonsense	SNP	0.949	T	T	1629280	G	T	1629280	4	4	185	1	0	0	0	0	0	1	0	0	17361	1175	41	3	1091	3	WDR81	17	1629280	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	364073	1629280	79565930	1251	35526										
WDR81	124997	genome.wustl.edu	37	chr17	1629456	1629456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgcttccgagacctgcgcaaGtccaagttccgcctcaacaa	8	16	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1629456G>A	ENST00000409644.1	+	1	1203	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	401	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCTGCGCAAGTCCAAGTTCC	0.657																																																	0													33	37	36					17																	1629456		692	1590	2282	SO:0001819	synonymous_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1203G>A	17.37:g.1629456G>A			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K401	ENST00000409644.1	37	c.1203	CCDS54062.1	17																																																																																			WDR81	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1629456	1	no_errors	ENST00000409644	ensembl	human	known	70_37	silent	SNP	1.000	A	A	1629456	G	A	1629456	2	1	185	1	0	0	0	0	0	0	0	1	17361	1020	36	4		4	WDR81	17	1629456	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	176	1629456	79565754	1252	35527										
WDR81	124997	genome.wustl.edu	37	chr17	1629718	1629718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggatgcagaactggaccccgGatgagtgcattccggagttc	14	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1629718G>A	ENST00000409644.1	+	1	1465	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	489	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGACCCCGGATGAGTGCAT	0.647																																																	0													22	26	25					17																	1629718		692	1585	2277	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1465G>A	17.37:g.1629718G>A	ENSP00000386609:p.Asp489Asn		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D489N	ENST00000409644.1	37	c.1465	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031142	0.75504	.	.	ENSG00000167716	ENST00000409644	T	0.80480	-1.38	5.4	5.4	0.78164	.	.	.	.	.	D	0.89181	0.6642	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90135	0.4209	6	0.72032	D	0.01	.	19.1633	0.93543	0.0:0.0:1.0:0.0	.	.	.	.	N	489	ENSP00000386609:D489N	ENSP00000386609:D489N	D	+	1	0	WDR81	1576468	1.000000	0.71417	0.629000	0.29254	0.388000	0.30384	9.765000	0.98953	2.530000	0.85305	0.462000	0.41574	GAT	WDR81	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.647	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1629718	1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1629718	G	A	1629718	3	1	185	1	0	0	0	0	1	0	0	0	17361	1174	41	1	1529	1	WDR81	17	1629718	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	262	1629718	79565492	1253	35528										
WDR81	124997	genome.wustl.edu	37	chr17	1634540	1634540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtgctcagcttcctcacctCcctcgtcacggggtaggcct	10	17	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1634540C>T	ENST00000409644.1	+	4	4145	c.4145C>T	c.(4144-4146)tCc>tTc	p.S1382F	WDR81_ENST00000446363.1_Missense_Mutation_p.S21F|WDR81_ENST00000309182.5_Missense_Mutation_p.S331F|WDR81_ENST00000419248.1_Missense_Mutation_p.S155F|WDR81_ENST00000437219.2_Missense_Mutation_p.S179F|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1382					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTCCTCACCTCCCTCGTCACG	0.642																																																	0													62	49	53					17																	1634540		2203	4300	6503	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4145C>T	17.37:g.1634540C>T	ENSP00000386609:p.Ser1382Phe		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1382F	ENST00000409644.1	37	c.4145	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.240912	0.95272	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680	T;T;T;T;T	0.62639	2.1;2.08;0.01;2.11;0.36	5.82	5.82	0.92795	.	0.116385	0.64402	D	0.000012	T	0.78246	0.4253	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.991;0.998;0.999	P;D;D	0.64042	0.77;0.915;0.921	T	0.79533	-0.1764	10	0.87932	D	0	.	19.0936	0.93240	0.0:1.0:0.0:0.0	.	179;509;331	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	F	179;331;21;155;1382;133	ENSP00000391074:S179F;ENSP00000312074:S331F;ENSP00000401560:S21F;ENSP00000407845:S155F;ENSP00000386609:S1382F	ENSP00000312074:S331F	S	+	2	0	WDR81	1581290	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	7.500000	0.81588	2.757000	0.94681	0.655000	0.94253	TCC	WDR81	-	NULL		0.642	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1634540	1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1634540	C	T	1634540	3	4	185	1	0	0	0	0	1	0	0	0	17361	855	30	1	4221	1	WDR81	17	1634540	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4822	1634540	79560670	1254	35529										
RPA1	6117	genome.wustl.edu	37	chr17	1756397	1756397	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtttgtctgcttttgcaggaGagtagttatcttgatggaat	12	4	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1756397G>C	ENST00000254719.5	+	5	385	c.275G>C	c.(274-276)aGa>aCa	p.R92T		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	92					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTTTGCAGGAGAGTAGTTATC	0.378								Nucleotide excision repair (NER)																																									0													133	131	132					17																	1756397		2203	4300	6503	SO:0001583	missense	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.275G>C	17.37:g.1756397G>C	ENSP00000254719:p.Arg92Thr		A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1	p.R92T	ENST00000254719.5	37	c.275	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480914	0.63849	.	.	ENSG00000132383	ENST00000254719	T	0.48201	0.82	5.89	1.2	0.21068	Replication factor-A protein 1, N-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.195154	0.53938	D	0.000052	T	0.46092	0.1375	M	0.78637	2.42	0.52501	D	0.999959	B	0.28998	0.23	B	0.31495	0.131	T	0.42632	-0.9440	10	0.49607	T	0.09	-13.3718	8.2701	0.31838	0.4331:0.0:0.5669:0.0	.	92	P27694	RFA1_HUMAN	T	92	ENSP00000254719:R92T	ENSP00000254719:R92T	R	+	2	0	RPA1	1703147	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.663000	0.25053	0.390000	0.25115	0.585000	0.79938	AGA	RPA1	-	pfam_Rep_factor-A_N,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1		0.378	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	G	NM_002945		1756397	1	no_errors	ENST00000254719	ensembl	human	known	70_37	missense	SNP	1.000	C	C	1756397	G	C	1756397	3	2	185	1	0	0	0	0	1	0	0	0	13566	942	33	1	293	1	RPA1	17	1756397	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	121857	1756397	79438813	1255	35530										
SMG6	23293	genome.wustl.edu	37	chr17	1989089	1989089	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtctgggacgggtgccactGacacatactttccacccttg	10	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:1989089G>A	ENST00000263073.6	-	14	3514	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	SMG6_ENST00000536871.2_Missense_Mutation_p.S247L|SMG6_ENST00000544865.1_Missense_Mutation_p.S1124L|SMG6_ENST00000354901.4_Missense_Mutation_p.S247L|SMG6_ENST00000573166.1_5'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1155					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGGTGCCACTGACACATACTT	0.537																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													275	261	265					17																	1989089		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3464C>T	17.37:g.1989089G>A	ENSP00000263073:p.Ser1155Leu		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.S1155L	ENST00000263073.6	37	c.3464	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160297	0.57368	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.22539	2.73;2.73;1.95	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.37517	0.1006	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.10730	-1.0617	10	0.72032	D	0.01	-3.1434	20.3409	0.98764	0.0:0.0:1.0:0.0	.	1155	Q86US8	EST1A_HUMAN	L	1155;1124;66;247	ENSP00000263073:S1155L;ENSP00000443920:S1124L;ENSP00000440283:S247L	ENSP00000263073:S1155L	S	-	2	0	SMG6	1935839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	TCA	SMG6	-	NULL		0.537	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	G			1989089	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1989089	G	A	1989089	3	1	185	1	0	0	0	0	1	0	0	0	14827	1294	45	1	819	1	SMG6	17	1989089	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	232692	1989089	79206121	1256	35531										
SMG6	23293	genome.wustl.edu	37	chr17	2201213	2201213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctgggttctcaacattcgGatccttgacaagttgcctga	9	10	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:2201213G>A	ENST00000263073.6	-	3	2034	c.1984C>T	c.(1984-1986)Ccg>Tcg	p.P662S	SMG6_ENST00000544865.1_Missense_Mutation_p.P631S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	662					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCAACATTCGGATCCTTGACA	0.408																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													131	123	126					17																	2201213		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1984C>T	17.37:g.2201213G>A	ENSP00000263073:p.Pro662Ser		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.P662S	ENST00000263073.6	37	c.1984	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112732	0.56398	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.20881	2.04;2.04	5.53	3.44	0.39384	Telomerase activating protein Est1 (1);	0.058619	0.64402	D	0.000001	T	0.13030	0.0316	L	0.33485	1.01	0.38578	D	0.950103	B	0.21071	0.051	B	0.23275	0.045	T	0.08249	-1.0731	10	0.09084	T	0.74	-5.4973	8.0593	0.30623	0.073:0.0:0.6541:0.2729	.	662	Q86US8	EST1A_HUMAN	S	662;631	ENSP00000263073:P662S;ENSP00000443920:P631S	ENSP00000263073:P662S	P	-	1	0	SMG6	2147963	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.930000	0.70104	1.328000	0.45358	-0.136000	0.14681	CCG	SMG6	-	pfam_EST1		0.408	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	G			2201213	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2201213	G	A	2201213	3	1	185	1	0	0	0	0	1	0	0	0	14827	1174	41	1	2343	1	SMG6	17	2201213	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	212124	2201213	78993997	1257	35532										
KIAA0664	23277	genome.wustl.edu	37	chr17	2607745	2607745	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacttcctggccggtggtctCatctcccgggccggcctcgt	13	16	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:2607745C>T	ENST00000570628.2	-	2	205	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CLUH_ENST00000538975.1_Missense_Mutation_p.E34K|CLUH_ENST00000435359.1_Missense_Mutation_p.E34K			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	34					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CCGGTGGTCTCATCTCCCGGG	0.617																																																	0													34	38	37					17																	2607745		1922	4116	6038	SO:0001583	missense	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.100G>A	17.37:g.2607745C>T	ENSP00000458986:p.Glu34Lys		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	superfamily_GSKIP/TIF31_domain	p.E34K	ENST00000570628.2	37	c.100	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199315	0.38806	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80994	-1.44;-1.44	4.97	4.97	0.65823	.	0.121598	0.53938	D	0.000059	T	0.70020	0.3176	N	0.24115	0.695	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.64309	-0.6438	10	0.23302	T	0.38	.	17.1909	0.86879	0.0:1.0:0.0:0.0	.	34	O75153	K0664_HUMAN	K	34	ENSP00000388872:E34K;ENSP00000439628:E34K	ENSP00000320468:E34K	E	-	1	0	KIAA0664	2554495	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	4.807000	0.62576	2.298000	0.77334	0.514000	0.50259	GAG	KIAA0664	-	NULL		0.617	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0664	HGNC	protein_coding	OTTHUMT00000437807.2	C	NM_015229		2607745	-1	no_errors	ENST00000435359	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2607745	C	T	2607745	3	4	185	1	0	0	0	0	1	0	0	0	8209	835	29	1	3929	1	KIAA0664	17	2607745	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	406532	2607745	78587465	1258	35533										
ZMYND15	84225	genome.wustl.edu	37	chr17	4649284	4649284	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggggcccgccggcggaaatGaatgctgataccctagtagt	15	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:4649284G>C	ENST00000433935.1	+	14	2285	c.2228G>C	c.(2227-2229)tGa>tCa	p.*743S	ZMYND15_ENST00000573751.2_Nonstop_Mutation_p.*751S|ZMYND15_ENST00000269289.6_Nonstop_Mutation_p.*704S|ZMYND15_ENST00000592813.1_Nonstop_Mutation_p.*704S	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	0					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						cggcggAAATGAATGCTGATA	0.597																																																	0													4	6	5					17																	4649284		1450	3054	4504	SO:0001578	stop_lost	84225			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.2228G>C	17.37:g.4649284G>C	ENSP00000391742:p.*743Serext*5		B4DXY5|I3L296	Nonstop_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.*743S	ENST00000433935.1	37	c.2228	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	6.834	0.522987	0.13066	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	.	.	.	4.22	3.25	0.37280	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2826	0.31908	0.1109:0.0:0.8891:0.0	.	.	.	.	S	743;704	.	.	X	+	2	2	ZMYND15	4596033	1.000000	0.71417	0.834000	0.33040	0.107000	0.19398	1.638000	0.37165	1.119000	0.41883	-0.137000	0.14449	TGA	ZMYND15	-	NULL		0.597	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	G	NM_032265		4649284	1	no_errors	ENST00000433935	ensembl	human	known	70_37	nonstop	SNP	0.937	C	C	4649284	G	C	4649284	4	2	185	1	0	0	0	0	0	0	0	0	17738	1285	45	1	2278	1	ZMYND15	17	4649284	Nonstop_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2041539	4649284	76545926	1259	35534										
RNF167	26001	genome.wustl.edu	37	chr17	4844434	4844434	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctctgtttggggctaccttGagccaggagggcctccaggt	15	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:4844434G>A	ENST00000262482.6	+	3	803	c.147G>A	c.(145-147)ttG>ttA	p.L49L	RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000575111.1_Silent_p.L49L|SLC25A11_ENST00000544061.2_5'Flank|RNF167_ENST00000576229.1_Silent_p.L14L|SLC25A11_ENST00000225665.7_5'Flank|RNF167_ENST00000572430.1_Silent_p.L49L|RNF167_ENST00000571816.1_Silent_p.L49L	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	49	PA.				negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						GGGCTACCTTGAGCCAGGAGG	0.483																																																	0													63	56	59					17																	4844434		2203	4300	6503	SO:0001819	synonymous_variant	26001			AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"RING-type (C3HC4) zinc fingers"	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.147G>A	17.37:g.4844434G>A			D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.L49	ENST00000262482.6	37	c.147	CCDS11060.1	17																																																																																			RNF167	-	NULL		0.483	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF167	HGNC	protein_coding	OTTHUMT00000216854.3	G	NM_015528		4844434	1	no_errors	ENST00000262482	ensembl	human	known	70_37	silent	SNP	0.998	A	A	4844434	G	A	4844434	2	1	185	1	0	0	0	0	0	0	0	1	13488	1281	45	1		1	RNF167	17	4844434	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	195150	4844434	76350776	1260	35535										
KIF1C	10749	genome.wustl.edu	37	chr17	4925710	4925710	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaggccctggccgccctcaaGatgcgggagctgtgtcgcac	15	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:4925710G>C	ENST00000320785.5	+	22	2691	c.2334G>C	c.(2332-2334)aaG>aaC	p.K778N	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	778					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGCCCTCAAGATGCGGGAGC	0.662																																					Melanoma(96;1023 1447 10250 19259 33730)												0													22	21	22					17																	4925710		2196	4289	6485	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2334G>C	17.37:g.4925710G>C	ENSP00000320821:p.Lys778Asn		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K778N	ENST00000320785.5	37	c.2334	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386560	0.61956	.	.	ENSG00000129250	ENST00000320785	T	0.74526	-0.85	4.67	4.67	0.58626	.	.	.	.	.	T	0.81158	0.4764	L	0.43923	1.385	0.44547	D	0.997507	D	0.71674	0.998	D	0.73708	0.981	T	0.82955	-0.0200	9	0.72032	D	0.01	.	15.1017	0.72284	0.0:0.0:1.0:0.0	.	778	O43896	KIF1C_HUMAN	N	778	ENSP00000320821:K778N	ENSP00000320821:K778N	K	+	3	2	KIF1C	4866434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.371000	0.44248	2.436000	0.82500	0.655000	0.94253	AAG	KIF1C	-	NULL		0.662	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	G			4925710	1	no_errors	ENST00000320785	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4925710	G	C	4925710	3	2	185	1	0	0	0	0	1	0	0	0	8305	933	33	1	2412	1	KIF1C	17	4925710	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	81276	4925710	76269500	1261	35536										
ZNF594	84622	genome.wustl.edu	37	chr17	5087312	5087312	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcattacatccatggccaatCtctcccacaatggctttctg	5	14	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:5087312C>G	ENST00000399604.4	-	1	380	c.240G>C	c.(238-240)gaG>gaC	p.E80D	ZNF594_ENST00000575779.1_Missense_Mutation_p.E80D			Q96JF6	ZN594_HUMAN	zinc finger protein 594	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATGGCCAATCTCTCCCACAA	0.443																																																	0													123	114	117					17																	5087312		1857	4109	5966	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.240G>C	17.37:g.5087312C>G	ENSP00000382513:p.Glu80Asp		Q6RFS0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E80D	ENST00000399604.4	37	c.240	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	C	2.215	-0.379709	0.05000	.	.	ENSG00000180626	ENST00000399604	T	0.09445	2.98	2.19	-0.0224	0.13948	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.15052	0.012	T	0.37731	-0.9693	9	0.59425	D	0.04	.	4.5829	0.12267	0.0:0.6069:0.2361:0.157	.	80	Q96JF6	ZN594_HUMAN	D	80	ENSP00000382513:E80D	ENSP00000382513:E80D	E	-	3	2	ZNF594	5028036	0.001000	0.12720	0.061000	0.19648	0.040000	0.13550	0.077000	0.14738	0.235000	0.21160	0.455000	0.32223	GAG	ZNF594	-	NULL		0.443	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	C	XM_290737		5087312	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	missense	SNP	0.003	G	G	5087312	C	G	5087312	3	3	185	1	0	0	0	0	1	0	0	0	18054	912	32	1	2187	1	ZNF594	17	5087312	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	161602	5087312	76107898	1262	35537										
WSCD1	23302	genome.wustl.edu	37	chr17	5991361	5991361	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacgagaggactctgaaagGagctgtgttttatgacttga	12	7	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:5991361G>C	ENST00000574946.1	+	3	869	c.479G>C	c.(478-480)gGa>gCa	p.G160A	WSCD1_ENST00000573634.1_Missense_Mutation_p.G44A|WSCD1_ENST00000574232.1_Missense_Mutation_p.G160A|WSCD1_ENST00000317744.5_Missense_Mutation_p.G160A|WSCD1_ENST00000539421.1_Missense_Mutation_p.G160A			Q658N2	WSCD1_HUMAN	WSC domain containing 1	160	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACTCTGAAAGGAGCTGTGTTT	0.542																																																	0													178	151	160					17																	5991361		2203	4300	6503	SO:0001583	missense	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.479G>C	17.37:g.5991361G>C	ENSP00000460825:p.Gly160Ala		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.G160A	ENST00000574946.1	37	c.479	CCDS32538.1	17	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227645	0.79576	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.55588	0.51;0.51	5.83	5.83	0.93111	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.059638	0.64402	D	0.000003	T	0.56645	0.1999	L	0.61036	1.89	0.45330	D	0.998325	P	0.51933	0.949	P	0.47573	0.55	T	0.58578	-0.7612	10	0.49607	T	0.09	-47.2602	13.2279	0.59924	0.0:0.1594:0.8406:0.0	.	160	Q658N2	WSCD1_HUMAN	A	160	ENSP00000323087:G160A;ENSP00000446032:G160A	ENSP00000323087:G160A	G	+	2	0	WSCD1	5932085	1.000000	0.71417	0.983000	0.44433	0.943000	0.58893	5.367000	0.66127	2.756000	0.94617	0.655000	0.94253	GGA	WSCD1	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd		0.542	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	HGNC	protein_coding	OTTHUMT00000438965.4	G	NM_015253		5991361	1	no_errors	ENST00000317744	ensembl	human	known	70_37	missense	SNP	0.995	C	C	5991361	G	C	5991361	3	2	185	1	0	0	0	0	1	0	0	0	17437	1174	41	1	485	1	WSCD1	17	5991361	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	904049	5991361	75203849	1263	35538										
PITPNM3	83394	genome.wustl.edu	37	chr17	6360959	6360959	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgggccggcccacaatgaaGatctgggaggcaggcaggcc	17	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6360959G>A	ENST00000262483.8	-	19	2661	c.2574C>T	c.(2572-2574)atC>atT	p.I858I	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.I822I	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	858					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCACAATGAAGATCTGGGAGG	0.607																																																	0													41	38	39					17																	6360959		2203	4300	6503	SO:0001819	synonymous_variant	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2574C>T	17.37:g.6360959G>A			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.I858	ENST00000262483.8	37	c.2574	CCDS11076.1	17																																																																																			PITPNM3	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.607	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	G	NM_031220		6360959	-1	no_errors	ENST00000262483	ensembl	human	known	70_37	silent	SNP	1.000	A	A	6360959	G	A	6360959	2	1	185	1	0	0	0	0	0	0	0	1	11976	932	33	1		1	PITPNM3	17	6360959	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	369598	6360959	74834251	1264	35539										
PITPNM3	83394	genome.wustl.edu	37	chr17	6381313	6381313	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acctgggtgctgctgatgctCcccttccggctgctgctggc	13	15	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6381313C>A	ENST00000262483.8	-	8	969	c.882G>T	c.(880-882)ggG>ggT	p.G294G	PITPNM3_ENST00000421306.3_Silent_p.G258G	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	294	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGCTGATGCTCCCCTTCCGGC	0.682																																																	0													71	79	76					17																	6381313		2203	4300	6503	SO:0001819	synonymous_variant	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.882G>T	17.37:g.6381313C>A			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.G294	ENST00000262483.8	37	c.882	CCDS11076.1	17																																																																																			PITPNM3	-	NULL		0.682	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	C	NM_031220		6381313	-1	no_errors	ENST00000262483	ensembl	human	known	70_37	silent	SNP	0.997	A	A	6381313	C	A	6381313	2	1	185	1	0	0	0	0	0	0	0	1	11976	842	30	3		3	PITPNM3	17	6381313	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	20354	6381313	74813897	1265	35540										
SLC13A5	284111	genome.wustl.edu	37	chr17	6604421	6604421	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaccaggaagcaaagttcacGaggtccttgctgtcaggaaa	11	9	2	0	rs138520827		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6604421G>A	ENST00000433363.2	-	6	974	c.741C>T	c.(739-741)ctC>ctT	p.L247L	SLC13A5_ENST00000573648.1_Silent_p.L247L|SLC13A5_ENST00000381074.4_Silent_p.L204L|SLC13A5_ENST00000293800.6_Silent_p.L230L	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	247					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAAAGTTCACGAGGTCCTTGC	0.557																																																	0								G	,	0,4406		0,0,2203	91	72	79		741,741	-8.1	0	17	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC13A5	NM_001143838.1,NM_177550.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	247/523,247/569	6604421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.741C>T	17.37:g.6604421G>A			B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.L247	ENST00000433363.2	37	c.741	CCDS11079.1	17																																																																																			SLC13A5	-	pfam_Na/sul_symport		0.557	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A5	HGNC	protein_coding	OTTHUMT00000219853.2	G	NM_177550		6604421	-1	no_errors	ENST00000433363	ensembl	human	known	70_37	silent	SNP	0.003	A	A	6604421	G	A	6604421	2	1	185	1	0	0	0	0	0	0	0	1	14425	1045	37	1		1	SLC13A5	17	6604421	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	223108	6604421	74590789	1266	35541										
FBXO39	162517	genome.wustl.edu	37	chr17	6683544	6683544	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cggggcctcctgtcttgtctGagtaagagcaacaaccgtct	11	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6683544G>C	ENST00000321535.4	+	2	487	c.357G>C	c.(355-357)ctG>ctC	p.L119L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	119										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGTCTTGTCTGAGTAAGAGCA	0.502																																																	0													84	85	85					17																	6683544		2203	4300	6503	SO:0001819	synonymous_variant	162517			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.357G>C	17.37:g.6683544G>C				Silent	SNP	NULL	p.L119	ENST00000321535.4	37	c.357	CCDS11082.1	17																																																																																			FBXO39	-	NULL		0.502	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	HGNC	protein_coding	OTTHUMT00000219866.2	G	NM_153230		6683544	1	no_errors	ENST00000321535	ensembl	human	known	70_37	silent	SNP	1.000	C	C	6683544	G	C	6683544	2	2	185	1	0	0	0	0	0	0	0	1	5765	1277	45	1		1	FBXO39	17	6683544	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	79123	6683544	74511666	1267	35542										
TEKT1	83659	genome.wustl.edu	37	chr17	6704101	6704101	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgatctcttgaacctccttCattagcctatattgtgcgac	7	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:6704101C>T	ENST00000338694.2	-	7	1143	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	TEKT1_ENST00000535086.1_Missense_Mutation_p.M192I	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	338						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GAACCTCCTTCATTAGCCTAT	0.562											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													220	194	203					17																	6704101		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1014G>A	17.37:g.6704101C>T	ENSP00000341346:p.Met338Ile	636	D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.M338I	ENST00000338694.2	37	c.1014	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	0.134	-1.110012	0.01813	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02050	4.48;4.48	5.84	-0.0775	0.13718	.	0.476655	0.24325	N	0.039512	T	0.00412	0.0013	N	0.00060	-2.34	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	10	0.02654	T	1	.	4.9476	0.13997	0.0703:0.238:0.4624:0.2292	.	338	Q969V4	TEKT1_HUMAN	I	338;192	ENSP00000341346:M338I;ENSP00000444142:M192I	ENSP00000341346:M338I	M	-	3	0	TEKT1	6644825	0.003000	0.15002	0.007000	0.13788	0.431000	0.31685	-0.263000	0.08670	0.146000	0.19002	-0.171000	0.13296	ATG	TEKT1	-	pfam_Tektin,prints_Tektin		0.562	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	C	NM_053285		6704101	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.065	T	T	6704101	C	T	6704101	3	4	185	1	0	0	0	0	1	0	0	0	15782	826	29	1	250	1	TEKT1	17	6704101	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	20557	6704101	74491109	1268	35543										
ASGR2	433	genome.wustl.edu	37	chr17	7017496	7017496	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtgcctggcccctcaccttGatggaaaggatggtcatttt	11	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:7017496G>A	ENST00000380952.2	-	2	328	c.64C>T	c.(64-66)Caa>Taa	p.Q22*	ASGR2_ENST00000355035.5_Nonsense_Mutation_p.Q22*|ASGR2_ENST00000254850.7_Nonsense_Mutation_p.Q22*|ASGR2_ENST00000446679.2_Nonsense_Mutation_p.Q22*	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	22					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CCCTCACCTTGATGGAAAGGA	0.567																																																	0													163	133	143					17																	7017496		2203	4300	6503	SO:0001587	stop_gained	433			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.64C>T	17.37:g.7017496G>A	ENSP00000370339:p.Gln22*		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Nonsense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.Q22*	ENST00000380952.2	37	c.64	CCDS32544.1	17	.	.	.	.	.	.	.	.	.	.	G	13.53	2.266070	0.40095	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	.	.	.	3.48	-3.68	0.04463	.	0.708924	0.11636	N	0.544258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0583	0.19824	0.0:0.4745:0.3381:0.1874	.	.	.	.	X	22	.	ENSP00000254850:Q22X	Q	-	1	0	ASGR2	6958220	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.699000	0.05077	-0.271000	0.10264	CAA	ASGR2	-	NULL		0.567	ASGR2-201	KNOWN	basic|CCDS	protein_coding	ASGR2	HGNC	protein_coding	OTTHUMT00000220003.1	G	NM_080914		7017496	-1	no_errors	ENST00000355035	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	7017496	G	A	7017496	4	1	185	1	0	0	0	0	0	1	0	0	1041	1299	45	1	903	1	ASGR2	17	7017496	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	313395	7017496	74177714	1269	35544										
EIF5A	1984	genome.wustl.edu	37	chr17	7213022	7213022	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caccttcccaatgcagtgctCagcattacgtaagaatggct	8	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:7213022C>T	ENST00000336458.8	+	2	469	c.68C>T	c.(67-69)tCa>tTa	p.S23L	EIF5A_ENST00000573542.1_Missense_Mutation_p.S23L|EIF5A_ENST00000416016.2_Missense_Mutation_p.S23L|EIF5A_ENST00000572815.1_Missense_Mutation_p.S23L|EIF5A_ENST00000336452.7_Missense_Mutation_p.S53L|EIF5A_ENST00000576930.1_Missense_Mutation_p.S23L|EIF5A_ENST00000419711.2_Missense_Mutation_p.S23L|EIF5A_ENST00000571955.1_Missense_Mutation_p.S23L	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	23	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						ATGCAGTGCTCAGCATTACGT	0.522																																																	0													192	177	183					17																	7213022		2203	4300	6503	SO:0001583	missense	1984				CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.68C>T	17.37:g.7213022C>T	ENSP00000336776:p.Ser23Leu		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A	p.S53L	ENST00000336458.8	37	c.158	CCDS11099.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.517130|4.517130	0.85495|0.85495	.|.	.|.	ENSG00000132507|ENSG00000132507	ENST00000355068|ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	.|T;T;T;T	.|0.48522	.|0.81;0.81;0.81;0.81	4.13|4.13	4.13|4.13	0.48395|0.48395	.|Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	.|0.000000	.|0.64402	.|D	.|0.000014	.|T	.|0.78413	.|0.4279	H|H	0.97103|0.97103	3.94|3.94	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.976;0.992	.|D	.|0.86432	.|0.1761	.|10	0.87932|0.72032	D|D	0|0.01	-5.7685|-5.7685	15.3285|15.3285	0.74186|0.74186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|23;53	.|P63241;P63241-2	.|IF5A1_HUMAN;.	X|L	21|53;23;23;23	.|ENSP00000336702:S53L;ENSP00000336776:S23L;ENSP00000390677:S23L;ENSP00000396073:S23L	ENSP00000347180:Q21X|ENSP00000336702:S53L	Q|S	+|+	1|2	0|0	EIF5A|EIF5A	7153746|7153746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.428000|5.428000	0.66489|0.66489	2.149000|2.149000	0.67028|0.67028	0.385000|0.385000	0.25706|0.25706	CAG|TCA	EIF5A	-	superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A		0.522	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5A	HGNC	protein_coding	OTTHUMT00000220047.3	C	NM_001970		7213022	1	no_errors	ENST00000336452	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7213022	C	T	7213022	3	4	185	1	0	0	0	0	1	0	0	0	5053	838	29	1	164	1	EIF5A	17	7213022	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	195526	7213022	73982188	1270	35545										
TNK1	8711	genome.wustl.edu	37	chr17	7287072	7287072	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgggtaggtcccgaaggcccGatgggcacagaactggggga	18	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:7287072G>A	ENST00000576812.1	+	5	840	c.471G>A	c.(469-471)ccG>ccA	p.P157P	TNK1_ENST00000570896.1_Silent_p.P157P|TNK1_ENST00000311668.2_Silent_p.P157P	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCGAAGGCCCGATGGGCACAG	0.627																																																	0													30	37	34					17																	7287072		2033	4170	6203	SO:0001819	synonymous_variant	8711			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.471G>A	17.37:g.7287072G>A				Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P157	ENST00000576812.1	37	c.471	CCDS58510.1	17																																																																																			TNK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.627	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TNK1	HGNC	protein_coding	OTTHUMT00000440832.2	G	NM_003985		7287072	1	no_errors	ENST00000576812	ensembl	human	known	70_37	silent	SNP	0.001	A	A	7287072	G	A	7287072	2	1	185	1	0	0	0	0	0	0	0	1	16347	1045	37	1		1	TNK1	17	7287072	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	74050	7287072	73908138	1271	35546										
LSMD1	84316	genome.wustl.edu	37	chr17	7760387	7760387	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gatgacattgcagtcacggtCagtgcagaggaagcagccga	14	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:7760387C>A	ENST00000335155.5	-	2	210	c.211G>T	c.(211-213)Gac>Tac	p.D71Y	LSMD1_ENST00000575208.1_Missense_Mutation_p.D19Y|LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000575771.1_Missense_Mutation_p.D19Y|LSMD1_ENST00000333775.5_Missense_Mutation_p.D119Y|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000576384.1_Missense_Mutation_p.D19Y|LSMD1_ENST00000575071.1_Missense_Mutation_p.D19Y|LSMD1_ENST00000576861.1_Missense_Mutation_p.D45Y			Q9BRA0	LSMD1_HUMAN		71					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CAGTCACGGTCAGTGCAGAGG	0.627											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)												0													99	97	98					17																	7760387		2203	4300	6503	SO:0001583	missense	84316																														ENST00000335155.5:c.211G>T	17.37:g.7760387C>A	ENSP00000335611:p.Asp71Tyr	644	Q8N4M0	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.D119Y	ENST00000335155.5	37	c.355		17	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450208	0.84101	.	.	ENSG00000183011	ENST00000333775;ENST00000335155	T;T	0.80653	-1.4;-1.4	5.39	4.42	0.53409	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.104089	0.64402	D	0.000005	D	0.92476	0.7611	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94225	0.7471	10	0.87932	D	0	-7.9095	13.2979	0.60307	0.0:0.9219:0.0:0.0781	.	119;71	Q9BRA0-2;Q9BRA0	.;LSMD1_HUMAN	Y	119;71	ENSP00000332103:D119Y;ENSP00000335611:D71Y	ENSP00000332103:D119Y	D	-	1	0	LSMD1	7701112	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	5.482000	0.66833	1.289000	0.44618	0.448000	0.29417	GAC	LSMD1	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc		0.627	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	LSMD1	HGNC	protein_coding		C			7760387	-1	no_errors	ENST00000333775	ensembl	human	known	70_37	missense	SNP	0.999	A	A	7760387	C	A	7760387	3	1	185	1	0	0	0	0	1	0	0	0	9085	826	29	3	174	3	LSMD1	17	7760387	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	473315	7760387	73434823	1272	35547										
C17orf68	80169	genome.wustl.edu	37	chr17	8141856	8141856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccatttggtccagcctcttGggcccaggcctggtatgcac	11	15	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:8141856G>T	ENST00000315684.8	-	3	296	c.289C>A	c.(289-291)Caa>Aaa	p.Q97K	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	97					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCAGCCTCTTGGGCCCAGGCC	0.562																																																	0													89	90	90					17																	8141856		2021	4173	6194	SO:0001583	missense	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.289C>A	17.37:g.8141856G>T	ENSP00000313759:p.Gln97Lys		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.Q97K	ENST00000315684.8	37	c.289	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	G	9.236	1.037112	0.19669	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	T;T	0.81415	-1.49;-1.49	5.94	1.41	0.22369	.	0.697891	0.13963	N	0.350732	T	0.71358	0.3330	L	0.54323	1.7	0.09310	N	0.999996	B	0.06786	0.001	B	0.09377	0.004	T	0.54166	-0.8334	10	0.15952	T	0.53	-0.4767	8.2577	0.31766	0.0:0.1337:0.3601:0.5062	.	97	Q2NKJ3	CTC1_HUMAN	K	97	ENSP00000313759:Q97K;ENSP00000396018:Q97K	ENSP00000313759:Q97K	Q	-	1	0	CTC1	8082581	0.961000	0.32948	0.728000	0.30774	0.770000	0.43624	0.889000	0.28282	0.797000	0.33971	0.561000	0.74099	CAA	CTC1	-	NULL		0.562	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	G	NM_025099		8141856	-1	no_errors	ENST00000315684	ensembl	human	known	70_37	missense	SNP	0.374	T	T	8141856	G	T	8141856	3	4	185	1	0	0	0	0	1	0	0	0	1880	1357	47	4	3448	4	C17orf68	17	8141856	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	381469	8141856	73053354	1273	35548										
MYH13	8735	genome.wustl.edu	37	chr17	10227404	10227404	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagctccaggtcatcaatgtCtctcttgagagaggagcatt	10	10	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10227404C>G	ENST00000418404.3	-	22	3032	c.2869G>C	c.(2869-2871)Gac>Cac	p.D957H	MYH13_ENST00000252172.4_Missense_Mutation_p.D957H|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	957					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCATCAATGTCTCTCTTGAGA	0.468																																																	0													119	120	120					17																	10227404		2192	4300	6492	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2869G>C	17.37:g.10227404C>G	ENSP00000404570:p.Asp957His		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D957H	ENST00000418404.3	37	c.2869	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455371	0.84209	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.94687	-3.49	4.37	4.37	0.52481	.	.	.	.	.	D	0.97467	0.9171	M	0.87900	2.915	0.52099	D	0.99994	P;D	0.89917	0.59;1.0	B;D	0.79784	0.087;0.993	D	0.98354	1.0545	9	0.87932	D	0	.	17.4708	0.87646	0.0:1.0:0.0:0.0	.	583;957	B4DFX9;Q9UKX3	.;MYH13_HUMAN	H	957;583	ENSP00000252172:D957H	ENSP00000252172:D957H	D	-	1	0	MYH13	10168129	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	7.522000	0.81844	2.407000	0.81776	0.655000	0.94253	GAC	MYH13	-	NULL		0.468	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10227404	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10227404	C	G	10227404	3	3	185	1	0	0	0	0	1	0	0	0	10055	913	32	1	3023	1	MYH13	17	10227404	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2085548	10227404	70967806	1274	35549										
MYH13	8735	genome.wustl.edu	37	chr17	10263307	10263307	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctggctgtgtctccttcttCttgtccccggtaactgcaat	8	14	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10263307C>A	ENST00000418404.3	-	6	778	c.615G>T	c.(613-615)aaG>aaT	p.K205N	MYH13_ENST00000252172.4_Missense_Mutation_p.K205N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	205	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCCTTCTTCTTGTCCCCGG	0.493																																																	0													82	85	84					17																	10263307		2203	4300	6503	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.615G>T	17.37:g.10263307C>A	ENSP00000404570:p.Lys205Asn		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K205N	ENST00000418404.3	37	c.615	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019645	0.35606	.	.	ENSG00000006788	ENST00000252172	D	0.87887	-2.31	3.94	-0.332	0.12675	Myosin head, motor domain (2);	.	.	.	.	D	0.87414	0.6171	L	0.58354	1.805	0.35748	D	0.819173	B	0.28584	0.216	B	0.43754	0.43	D	0.85909	0.1439	9	0.59425	D	0.04	.	10.1693	0.42900	0.0:0.6131:0.0:0.3869	.	205	Q9UKX3	MYH13_HUMAN	N	205	ENSP00000252172:K205N	ENSP00000252172:K205N	K	-	3	2	MYH13	10204032	0.994000	0.37717	0.997000	0.53966	0.250000	0.25880	0.403000	0.20982	0.104000	0.17725	-0.140000	0.14226	AAG	MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.493	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10263307	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10263307	C	A	10263307	3	1	185	1	0	0	0	0	1	0	0	0	10055	912	32	3	5341	3	MYH13	17	10263307	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	35903	10263307	70931903	1275	35550										
MYH8	4626	genome.wustl.edu	37	chr17	10312482	10312482	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acctttcttcgcgctgctatCtgaggtaaaaagaaaacccg	8	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10312482C>G	ENST00000403437.2	-	17	1992		c.e17-1		RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCGCTGCTATCTGAGGTAAAA	0.343									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													49	51	50					17																	10312482		2202	4300	6502	SO:0001630	splice_region_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1898-1G>C	17.37:g.10312482C>G			Q14910	Splice_Site	SNP	-	e15-1	ENST00000403437.2	37	c.1898-1	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246243	0.22796	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9924	0.92798	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH8	10253207	0.944000	0.32072	0.923000	0.36655	0.048000	0.14542	4.596000	0.61055	2.736000	0.93811	0.655000	0.94253	.	MYH8	-	-		0.343	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	C	NM_002472	Intron	10312482	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	10312482	C	G	10312482	5	3	185	1	0	0	0	0	0	0	1	0	10064	927	32	1	4012	1	MYH8	17	10312482	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	49175	10312482	70882728	1276	35551										
MYH4	4622	genome.wustl.edu	37	chr17	10357178	10357178	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caactgatcacatctttcctCtgcatcagccaaggcatctg	6	14	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10357178C>T	ENST00000255381.2	-	23	2826	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	906					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATCTTTCCTCTGCATCAGCC	0.373																																																	0													233	220	225					17																	10357178		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2716G>A	17.37:g.10357178C>T	ENSP00000255381:p.Glu906Lys			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E906K	ENST00000255381.2	37	c.2716	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894789	0.91962	.	.	ENSG00000141048	ENST00000255381	D	0.94537	-3.45	5.43	5.43	0.79202	.	0.000000	0.37761	U	0.001944	D	0.98557	0.9518	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99445	1.0939	10	0.87932	D	0	.	19.5952	0.95535	0.0:1.0:0.0:0.0	.	906	Q9Y623	MYH4_HUMAN	K	906	ENSP00000255381:E906K	ENSP00000255381:E906K	E	-	1	0	MYH4	10297903	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.663000	0.83820	2.699000	0.92147	0.655000	0.94253	GAG	MYH4	-	NULL		0.373	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10357178	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10357178	C	T	10357178	3	4	185	1	0	0	0	0	1	0	0	0	10060	922	32	1	3175	1	MYH4	17	10357178	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	44696	10357178	70838032	1277	35552										
MYH1	4619	genome.wustl.edu	37	chr17	10408270	10408270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catgttggccatctccttctCtgtctctgcacttttgagga	8	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10408270C>G	ENST00000226207.5	-	22	2642	c.2548G>C	c.(2548-2550)Gag>Cag	p.E850Q	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	850					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATCTCCTTCTCTGTCTCTGCA	0.453																																																	0													144	134	137					17																	10408270		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2548G>C	17.37:g.10408270C>G	ENSP00000226207:p.Glu850Gln		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E850Q	ENST00000226207.5	37	c.2548	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606241	0.87157	.	.	ENSG00000109061	ENST00000226207	D	0.93763	-3.28	5.48	5.48	0.80851	.	0.000000	0.43416	U	0.000576	D	0.94165	0.8128	M	0.87900	2.915	0.54753	D	0.999986	P	0.36647	0.563	B	0.34093	0.175	D	0.94481	0.7693	10	0.72032	D	0.01	.	19.7157	0.96119	0.0:1.0:0.0:0.0	.	850	P12882	MYH1_HUMAN	Q	850	ENSP00000226207:E850Q	ENSP00000226207:E850Q	E	-	1	0	MYH1	10348995	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.692000	0.84203	2.749000	0.94314	0.655000	0.94253	GAG	MYH1	-	NULL		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10408270	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10408270	C	G	10408270	3	3	185	1	0	0	0	0	1	0	0	0	10052	922	32	1	3347	1	MYH1	17	10408270	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	51092	10408270	70786940	1278	35553										
MYH2	4620	genome.wustl.edu	37	chr17	10429926	10429926	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgcacatacttggcctcctCcagctcctctgtgcgctgga	10	15	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10429926C>G	ENST00000245503.5	-	30	4561	c.4177G>C	c.(4177-4179)Gag>Cag	p.E1393Q	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1393Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1393					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGCCTCCTCCAGCTCCTCT	0.502																																																	0													157	146	150					17																	10429926		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4177G>C	17.37:g.10429926C>G	ENSP00000245503:p.Glu1393Gln		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1393Q	ENST00000245503.5	37	c.4177	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.121413	0.94385	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85955	-2.05;-2.05	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.39687	U	0.001290	D	0.95348	0.8490	H	0.96833	3.89	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96644	0.9476	10	0.87932	D	0	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	1393	Q9UKX2	MYH2_HUMAN	Q	1393	ENSP00000245503:E1393Q;ENSP00000380367:E1393Q	ENSP00000245503:E1393Q	E	-	1	0	MYH2	10370651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.703000	0.92315	0.655000	0.94253	GAG	MYH2	-	pfam_Myosin_tail,superfamily_Ribosomal_L29		0.502	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10429926	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	G	G	10429926	C	G	10429926	3	3	185	1	0	0	0	0	1	0	0	0	10058	864	30	1	1692	1	MYH2	17	10429926	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	21656	10429926	70765284	1279	35554										
MYH2	4620	genome.wustl.edu	37	chr17	10435166	10435166	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggccagtgcttgacattcatGaaggatctgatattgtactg	11	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:10435166G>A	ENST00000245503.5	-	22	2865	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.F827F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	827					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGACATTCATGAAGGATCTGA	0.433																																																	0													107	100	102					17																	10435166		2203	4300	6503	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2481C>T	17.37:g.10435166G>A			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F827	ENST00000245503.5	37	c.2481	CCDS11156.1	17																																																																																			MYH2	-	NULL		0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10435166	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10435166	G	A	10435166	2	1	185	1	0	0	0	0	0	0	0	1	10058	1281	45	1		1	MYH2	17	10435166	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5240	10435166	70760044	1280	35555										
ZNF18	7566	genome.wustl.edu	37	chr17	11881927	11881927	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctccaaagcatcctggctCatcctcagtgaagaagcccc	7	15	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:11881927C>G	ENST00000322748.3	-	9	1601	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	ZNF18_ENST00000454073.3_Missense_Mutation_p.E332Q|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Missense_Mutation_p.E333Q	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	333					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CATCCTGGCTCATCCTCAGTG	0.517																																																	0													132	140	137					17																	11881927		2203	4300	6503	SO:0001583	missense	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.997G>C	17.37:g.11881927C>G	ENSP00000315664:p.Glu333Gln		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E333Q	ENST00000322748.3	37	c.997	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473694	0.43942	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.06849	3.25	5.39	5.39	0.77823	.	0.517808	0.17966	N	0.156031	T	0.05731	0.0150	N	0.24115	0.695	0.09310	N	1	B;B	0.29232	0.238;0.153	B;B	0.26969	0.075;0.034	T	0.39143	-0.9628	10	0.14252	T	0.57	-5.1484	10.4692	0.44626	0.0:0.9111:0.0:0.0889	.	332;333	P17022-2;P17022	.;ZNF18_HUMAN	Q	333	ENSP00000315664:E333Q	ENSP00000315664:E333Q	E	-	1	0	ZNF18	11822652	0.000000	0.05858	0.044000	0.18714	0.918000	0.54935	0.628000	0.24522	2.676000	0.91093	0.557000	0.71058	GAG	ZNF18	-	NULL		0.517	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	C	XM_085596		11881927	-1	no_errors	ENST00000322748	ensembl	human	known	70_37	missense	SNP	0.067	G	G	11881927	C	G	11881927	3	3	185	1	0	0	0	0	1	0	0	0	17777	835	29	1	656	1	ZNF18	17	11881927	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1446761	11881927	69313283	1281	35556										
TRIM16	10626	genome.wustl.edu	37	chr17	15539374	15539374	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagaactggacagtgttgctGatggccgccatcctctccag	11	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:15539374G>A	ENST00000578237.1	-	8	1680	c.825C>T	c.(823-825)atC>atT	p.I275I	TRIM16_ENST00000416464.2_Silent_p.I145I|RP11-385D13.1_ENST00000455584.2_Silent_p.I275I|TRIM16_ENST00000581224.1_5'Flank|TRIM16_ENST00000577886.1_Silent_p.I59I|TRIM16_ENST00000579219.1_Silent_p.I59I|TRIM16_ENST00000336708.7_Silent_p.I275I			O95361	TRI16_HUMAN	tripartite motif containing 16	275					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CAGTGTTGCTGATGGCCGCCA	0.607																																																	0													125	98	107					17																	15539374		2187	4298	6485	SO:0001819	synonymous_variant	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.825C>T	17.37:g.15539374G>A			Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.I275	ENST00000578237.1	37	c.825	CCDS11171.1	17	.	.	.	.	.	.	.	.	.	.	g	6.288	0.421317	0.11928	.	.	ENSG00000251537	ENST00000455584	.	.	.	3.97	1.96	0.26148	.	.	.	.	.	T	0.55816	0.1944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48080	-0.9066	4	.	.	.	.	8.1093	0.30905	0.2031:0.0:0.7969:0.0	.	.	.	.	L	290	.	.	S	-	2	0	RP11-385D13.1	15480099	1.000000	0.71417	0.997000	0.53966	0.507000	0.33981	1.592000	0.36676	0.470000	0.27294	-0.266000	0.10368	TCA	TRIM16	-	NULL		0.607	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	G	NM_006470		15539374	-1	no_errors	ENST00000336708	ensembl	human	known	70_37	silent	SNP	0.990	A	A	15539374	G	A	15539374	2	1	185	1	0	0	0	0	0	0	0	1	16522	1280	45	1		1	TRIM16	17	15539374	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3657447	15539374	65655836	1282	35557										
NCOR1	9611	genome.wustl.edu	37	chr17	15978916	15978916	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttggatgcagcttcctctCtgcctttctcaggactgctg	9	13	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:15978916C>T	ENST00000268712.3	-	27	3859	c.3602G>A	c.(3601-3603)aGa>aAa	p.R1201K	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1217K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1201	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGCTTCCTCTCTGCCTTTCTC	0.478																																																	0													234	207	216					17																	15978916		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3602G>A	17.37:g.15978916C>T	ENSP00000268712:p.Arg1201Lys		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1201K	ENST00000268712.3	37	c.3602	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667480	0.67814	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.81996	-1.56;-1.56	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90307	0.6968	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.64830	0.99;0.994;0.994;0.99	D;D;D;D	0.72982	0.979;0.977;0.97;0.979	D	0.90249	0.4292	10	0.72032	D	0.01	-11.9362	19.3193	0.94231	0.0:1.0:0.0:0.0	.	12;1108;1201;1217	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	K	1201;1217;1108	ENSP00000268712:R1201K;ENSP00000379192:R1217K	ENSP00000268712:R1201K	R	-	2	0	NCOR1	15919641	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.298000	0.78815	2.797000	0.96272	0.655000	0.94253	AGA	NCOR1	-	NULL		0.478	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	C	NM_006311		15978916	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15978916	C	T	15978916	3	4	185	1	0	0	0	0	1	0	0	0	10259	913	32	1	3800	1	NCOR1	17	15978916	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	439542	15978916	65216294	1283	35558										
CCDC144A	9720	genome.wustl.edu	37	chr17	16623539	16623539	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gataaaacatctaatgaaaaGaacgaggtattgtaaaaaag	8	3	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:16623539G>C	ENST00000360524.8	+	7	1819	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N	CCDC144A_ENST00000443444.2_Missense_Mutation_p.K581N|CCDC144A_ENST00000456009.1_Missense_Mutation_p.K301N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.K581N|CCDC144A_ENST00000399273.1_Missense_Mutation_p.K581N	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	581																	CTAATGAAAAGAACGAGGTAT	0.249																																																	0													16	15	15					17																	16623539		1736	3926	5662	SO:0001583	missense	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1743G>C	17.37:g.16623539G>C	ENSP00000353717:p.Lys581Asn		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.K581N	ENST00000360524.8	37	c.1743	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.946|7.946	0.743787|0.743787	0.15642|0.15642	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495|ENST00000328495	T;T;T;T;T;T|.	0.28255|.	1.62;1.62;1.62;1.62;1.62;1.62|.	1.4|1.4	-1.05|-1.05	0.10036|0.10036	.|.	.|.	.|.	.|.	.|.	T|T	0.19087|0.19087	0.0458|0.0458	N|N	0.21194|0.21194	0.64|0.64	0.20873|0.20873	N|N	0.999839|0.999839	P;B|.	0.37276|.	0.589;0.264|.	B;B|.	0.43225|.	0.412;0.168|.	T|T	0.23619|0.23619	-1.0183|-1.0183	9|5	0.59425|.	D|.	0.04|.	.|.	1.9242|1.9242	0.03313|0.03313	0.2239:0.0:0.4585:0.3176|0.2239:0.0:0.4585:0.3176	.|.	301;581|.	A2RUR9-3;A2RUR9|.	.;C144A_HUMAN|.	N|T	581;581;581;581;301;581|65	ENSP00000382215:K581N;ENSP00000439262:K581N;ENSP00000440655:K581N;ENSP00000353717:K581N;ENSP00000394201:K301N;ENSP00000353685:K581N|.	ENSP00000353685:K581N|.	K|R	+|+	3|2	2|0	CCDC144A|CCDC144A	16564264|16564264	0.123000|0.123000	0.22298|0.22298	0.811000|0.811000	0.32455|0.32455	0.174000|0.174000	0.22865|0.22865	-0.176000|-0.176000	0.09811|0.09811	-0.258000|-0.258000	0.09446|0.09446	0.184000|0.184000	0.17185|0.17185	AAG|AGA	CCDC144A	-	NULL		0.249	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	G			16623539	1	no_errors	ENST00000360524	ensembl	human	known	70_37	missense	SNP	0.925	C	C	16623539	G	C	16623539	3	2	185	1	0	0	0	0	1	0	0	0	2782	933	33	1	1769	1	CCDC144A	17	16623539	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	644623	16623539	64571671	1284	35559										
B9D1	27077	genome.wustl.edu	37	chr17	19246682	19246682	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccccaacacaccctgtgtatCagaaggcccagtgtcatagc	8	15	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:19246682C>G	ENST00000261499.4	-	7	708	c.565G>C	c.(565-567)Gat>Cat	p.D189H	B9D1_ENST00000461069.2_Intron|MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000395615.1_3'UTR|B9D1_ENST00000477478.2_3'UTR|B9D1_ENST00000575403.1_Intron	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	189					camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCCTGTGTATCAGAAGGCCCA	0.587																																																	0													84	74	77					17																	19246682		2203	4300	6503	SO:0001583	missense	27077			BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"endothelial precursor protein B9"	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.565G>C	17.37:g.19246682C>G	ENSP00000261499:p.Asp189His		Q9BU22	Missense_Mutation	SNP	pfam_B9_dom	p.D189H	ENST00000261499.4	37	c.565	CCDS11205.1	17	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303402	0.40795	.	.	ENSG00000108641	ENST00000261499	T	0.65364	-0.15	5.46	5.46	0.80206	.	0.340346	0.35466	N	0.003186	T	0.58750	0.2144	L	0.52573	1.65	0.40768	D	0.983062	P	0.37864	0.61	B	0.40901	0.343	T	0.61758	-0.6997	10	0.46703	T	0.11	.	11.5421	0.50672	0.0:0.9166:0.0:0.0834	.	189	Q9UPM9	B9D1_HUMAN	H	189	ENSP00000261499:D189H	ENSP00000261499:D189H	D	-	1	0	B9D1	19187275	.	.	0.218000	0.23776	0.010000	0.07245	.	.	2.559000	0.86315	0.549000	0.68633	GAT	B9D1	-	NULL		0.587	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B9D1	HGNC	protein_coding	OTTHUMT00000132494.1	C	NM_015681		19246682	-1	no_errors	ENST00000261499	ensembl	human	known	70_37	missense	SNP	0.303	G	G	19246682	C	G	19246682	3	3	185	1	0	0	0	0	1	0	0	0	1278	826	29	1	53	1	B9D1	17	19246682	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2623143	19246682	61948528	1285	35560										
RNF112	7732	genome.wustl.edu	37	chr17	19316316	19316316	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatgcctctgggggcctcatCcttaggatgggggccatcaa	13	11	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:19316316C>G	ENST00000461366.1	+	4	662	c.447C>G	c.(445-447)atC>atG	p.I149M	RNF112_ENST00000580109.1_Intron|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	149						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGGCCTCATCCTTAGGATGG	0.657																																																	0													18	21	20					17																	19316316		2087	4221	6308	SO:0001583	missense	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.447C>G	17.37:g.19316316C>G	ENSP00000454919:p.Ile149Met		O60633|Q7Z5V9	Missense_Mutation	SNP	pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING	p.I149M	ENST00000461366.1	37	c.447	CCDS58529.1	17																																																																																			RNF112	-	NULL		0.657	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	HGNC	protein_coding	OTTHUMT00000132549.4	C	NM_007148		19316316	1	no_errors	ENST00000461366	ensembl	human	novel	70_37	missense	SNP	0.581	G	G	19316316	C	G	19316316	3	3	185	1	0	0	0	0	1	0	0	0	13456	845	30	1	171	1	RNF112	17	19316316	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	69634	19316316	61878894	1286	35561										
ULK2	9706	genome.wustl.edu	37	chr17	19680994	19680994	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgataaacaatatcttcggtCtgctgaaacatctcatccag	6	11	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:19680994C>T	ENST00000395544.4	-	26	3451	c.2952G>A	c.(2950-2952)caG>caA	p.Q984Q	ULK2_ENST00000361658.2_Silent_p.Q984Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	984	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TATCTTCGGTCTGCTGAAACA	0.408																																																	0													87	81	83					17																	19680994		2203	4300	6503	SO:0001819	synonymous_variant	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2952G>A	17.37:g.19680994C>T			A8MY69|O75119	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q984	ENST00000395544.4	37	c.2952	CCDS11213.1	17																																																																																			ULK2	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.408	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	C	NM_014683		19680994	-1	no_errors	ENST00000361658	ensembl	human	known	70_37	silent	SNP	1.000	T	T	19680994	C	T	19680994	2	4	185	1	0	0	0	0	0	0	0	1	17007	912	32	1		1	ULK2	17	19680994	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	364678	19680994	61514216	1287	35562										
ULK2	9706	genome.wustl.edu	37	chr17	19699456	19699456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cggcccgctgcctctcacttCcttgcactaagaggcaatgg	10	15	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:19699456C>T	ENST00000395544.4	-	19	2448	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	ULK2_ENST00000580130.1_5'Flank|ULK2_ENST00000361658.2_Missense_Mutation_p.G650E	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	650					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CCTCTCACTTCCTTGCACTAA	0.483																																																	0													114	105	108					17																	19699456		2203	4300	6503	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1949G>A	17.37:g.19699456C>T	ENSP00000378914:p.Gly650Glu		A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G650E	ENST00000395544.4	37	c.1949	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874607	0.17395	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.31247	1.5;1.5	6.02	5.06	0.68205	.	0.280456	0.41712	N	0.000833	T	0.30417	0.0764	L	0.57536	1.79	0.37315	D	0.909293	B	0.02656	0.0	B	0.04013	0.001	T	0.18650	-1.0330	10	0.44086	T	0.13	-12.086	11.2296	0.48903	0.0:0.8027:0.1279:0.0695	.	650	Q8IYT8	ULK2_HUMAN	E	650	ENSP00000354877:G650E;ENSP00000378914:G650E	ENSP00000354877:G650E	G	-	2	0	ULK2	19640048	0.971000	0.33674	0.836000	0.33094	0.222000	0.24845	1.590000	0.36654	1.566000	0.49654	0.655000	0.94253	GGA	ULK2	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.483	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	C	NM_014683		19699456	-1	no_errors	ENST00000361658	ensembl	human	known	70_37	missense	SNP	0.959	T	T	19699456	C	T	19699456	3	4	185	1	0	0	0	0	1	0	0	0	17007	855	30	1	1197	1	ULK2	17	19699456	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	18462	19699456	61495754	1288	35563										
KSR1	8844	genome.wustl.edu	37	chr17	25919586	25919586	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaatctgtcccctcggacatCaacaacccggtggacagagc	10	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:25919586C>T	ENST00000319524.6	+	9	1233	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	KSR1_ENST00000268763.6_Silent_p.I274I|KSR1_ENST00000509603.2_Silent_p.I411I|KSR1_ENST00000398988.3_Silent_p.I274I|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	411					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCTCGGACATCAACAACCCGG	0.532																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													87	84	85					17																	25919586		1904	4118	6022	SO:0001819	synonymous_variant	8844			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1233C>T	17.37:g.25919586C>T			F8WEA9|H7BYU0|Q13476	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I411	ENST00000319524.6	37	c.1233		17	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617901	0.28801	.	.	ENSG00000141068	ENST00000398988	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1628	0.54113	0.1708:0.8292:0.0:0.0	.	.	.	.	X	147	.	.	Q	+	1	0	KSR1	22943713	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.238000	0.43070	2.258000	0.74832	0.591000	0.81541	CAA	KSR1	-	NULL		0.532	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		C	NM_014238		25919586	1	no_errors	ENST00000319524	ensembl	human	known	70_37	silent	SNP	1.000	T	T	25919586	C	T	25919586	2	4	185	1	0	0	0	0	0	0	0	1	8601	816	29	1		1	KSR1	17	25919586	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6220130	25919586	55275624	1289	35564										
KIAA0100	9703	genome.wustl.edu	37	chr17	26962166	26962166	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagaggagccaaacacggttCcggagggtctgcagcgcagg	17	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:26962166C>T	ENST00000528896.2	-	16	2513	c.2439G>A	c.(2437-2439)cgG>cgA	p.R813R	KIAA0100_ENST00000544884.1_Silent_p.R670R|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.R670R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	813						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAACACGGTTCCGGAGGGTCT	0.527																																																	0													117	134	128					17																	26962166		2203	4300	6503	SO:0001819	synonymous_variant	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2439G>A	17.37:g.26962166C>T			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.R813	ENST00000528896.2	37	c.2439	CCDS32595.1	17																																																																																			KIAA0100	-	NULL		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26962166	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	silent	SNP	1.000	T	T	26962166	C	T	26962166	2	4	185	1	0	0	0	0	0	0	0	1	8174	842	30	1		1	KIAA0100	17	26962166	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1042580	26962166	54233044	1290	35565										
CCDC55	84081	genome.wustl.edu	37	chr17	28506219	28506219	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaatggaaaagggggagtttGatgataaagaagcatttgtg	14	1	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:28506219G>C	ENST00000247026.5	+	5	475	c.412G>C	c.(412-414)Gat>Cat	p.D138H	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	138	Necessary for alternative splicing activity.				developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GGGGGAGTTTGATGATAAAGA	0.378																																																	0													38	39	39					17																	28506219		2203	4300	6503	SO:0001583	missense	84081			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.412G>C	17.37:g.28506219G>C	ENSP00000247026:p.Asp138His		Q6FI71	Missense_Mutation	SNP	pfam_DUF2040	p.D138H	ENST00000247026.5	37	c.412	CCDS11255.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943116	0.73672	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.44482	0.92	5.29	5.29	0.74685	Domain of unknown function DUF2040 (1);	0.197323	0.46758	D	0.000269	T	0.45657	0.1353	L	0.46157	1.445	0.80722	D	1	P	0.49961	0.93	P	0.49140	0.601	T	0.41197	-0.9522	10	0.52906	T	0.07	-15.3793	13.6638	0.62382	0.0:0.1547:0.8453:0.0	.	138	Q9H0G5	NSRP1_HUMAN	H	138;69;84	ENSP00000247026:D138H	ENSP00000247026:D138H	D	+	1	0	NSRP1	25530345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.592000	0.67543	2.468000	0.83385	0.591000	0.81541	GAT	NSRP1	-	pfam_DUF2040		0.378	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSRP1	HGNC	protein_coding	OTTHUMT00000256121.2	G	NM_032141		28506219	1	no_errors	ENST00000247026	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28506219	G	C	28506219	3	2	185	1	0	0	0	0	1	0	0	0	2830	1290	45	1	430	1	CCDC55	17	28506219	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1544053	28506219	52688991	1291	35566										
OMG	4974	genome.wustl.edu	37	chr17	29623322	29623322	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagaaggatgaacaggcagaGagacattttcaatatctgat	10	6	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:29623322G>C	ENST00000247271.4	-	2	289	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	10					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		AACAGGCAGAGAGACATTTTC	0.408																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											80	77	78					17																	29623322		2203	4300	6503	SO:0001583	missense	4974				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.28C>G	17.37:g.29623322G>C	ENSP00000247271:p.Leu10Val		E1P659	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L10V	ENST00000247271.4	37	c.28	CCDS11265.1	17	.	.	.	.	.	.	.	.	.	.	G	8.352	0.831118	0.16820	.	.	ENSG00000126861	ENST00000247271	T	0.61742	0.08	5.23	4.25	0.50352	.	0.310345	0.27932	N	0.017271	T	0.37679	0.1012	N	0.14661	0.345	0.21386	N	0.999707	B	0.06786	0.001	B	0.06405	0.002	T	0.22556	-1.0213	10	0.40728	T	0.16	-0.3555	9.1719	0.37086	0.08:0.0:0.7655:0.1545	.	10	P23515	OMGP_HUMAN	V	10	ENSP00000247271:L10V	ENSP00000247271:L10V	L	-	1	0	OMG	26647448	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.073000	0.50057	1.329000	0.45376	0.557000	0.71058	CTC	OMG	-	NULL		0.408	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	HGNC	protein_coding	OTTHUMT00000256350.2	G	NM_002544		29623322	-1	no_errors	ENST00000247271	ensembl	human	known	70_37	missense	SNP	1.000	C	C	29623322	G	C	29623322	3	2	185	1	0	0	0	0	1	0	0	0	10890	942	33	1	1298	1	OMG	17	29623322	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1117103	29623322	51571888	1292	35567										
RHOT1	55288	genome.wustl.edu	37	chr17	30520242	30520242	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atataagtgatggtgtggctGacagtgggttgaccctgaaa	14	5	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:30520242G>A	ENST00000333942.6	+	10	966	c.727G>A	c.(727-729)Gac>Aac	p.D243N	RHOT1_ENST00000354266.3_Missense_Mutation_p.D222N|RHOT1_ENST00000581094.1_Missense_Mutation_p.D243N|RHOT1_ENST00000358365.3_Missense_Mutation_p.D243N|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Missense_Mutation_p.D243N|RHOT1_ENST00000394692.2_Missense_Mutation_p.D243N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D116N	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	243					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGGTGTGGCTGACAGTGGGTT	0.388																																																	0													98	92	94					17																	30520242		2203	4300	6503	SO:0001583	missense	55288			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.727G>A	17.37:g.30520242G>A	ENSP00000334724:p.Asp243Asn		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D243N	ENST00000333942.6	37	c.727	CCDS32612.1	17	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988887	0.53934	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.12672	2.66;2.66;2.66	5.49	5.49	0.81192	EF hand associated, type-2 (1);EF-hand-like domain (1);	0.086790	0.85682	D	0.000000	T	0.16514	0.0397	L	0.45352	1.415	0.80722	D	1	B;B;B;B	0.22541	0.071;0.006;0.016;0.016	B;B;B;B	0.26770	0.073;0.03;0.018;0.017	T	0.04203	-1.0969	10	0.29301	T	0.29	-3.1122	19.3749	0.94505	0.0:0.0:1.0:0.0	.	243;243;243;243	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	N	243	ENSP00000351132:D243N;ENSP00000378184:D243N;ENSP00000334724:D243N	ENSP00000334724:D243N	D	+	1	0	RHOT1	27544355	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.599000	0.67592	2.580000	0.87095	0.467000	0.42956	GAC	RHOT1	-	pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro		0.388	RHOT1-001	KNOWN	basic|CCDS	protein_coding	RHOT1	HGNC	protein_coding	OTTHUMT00000447097.1	G	NM_018307		30520242	1	no_errors	ENST00000358365	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30520242	G	A	30520242	3	1	185	1	0	0	0	0	1	0	0	0	13373	1290	45	1	765	1	RHOT1	17	30520242	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	896920	30520242	50674968	1293	35568										
C17orf102	400591	genome.wustl.edu	37	chr17	32904615	32904615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttgtacctacaatgcctgtGatgttggagatatgcaccat	10	8	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:32904615G>C	ENST00000357754.1	-	2	523	c.435C>G	c.(433-435)atC>atG	p.I145M		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	145										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						caatgcctgTGATGTTGGAGA	0.468																																																	0													122	116	118					17																	32904615		2016	4190	6206	SO:0001583	missense	400591				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.435C>G	17.37:g.32904615G>C	ENSP00000350392:p.Ile145Met		A5PKX0|Q6ZTB3	Missense_Mutation	SNP	NULL	p.I145M	ENST00000357754.1	37	c.435	CCDS42297.1	17	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319486	0.23994	.	.	ENSG00000197322	ENST00000357754	T	0.38722	1.12	3.49	2.52	0.30459	.	.	.	.	.	T	0.37237	0.0996	N	0.19112	0.55	0.09310	N	1	D	0.57899	0.981	P	0.54026	0.74	T	0.12116	-1.0560	9	0.87932	D	0	.	6.7135	0.23290	0.1274:0.0:0.8726:0.0	.	145	A2RUQ5	CQ102_HUMAN	M	145	ENSP00000350392:I145M	ENSP00000350392:I145M	I	-	3	3	C17orf102	29928728	0.038000	0.19896	0.000000	0.03702	0.206000	0.24218	1.589000	0.36644	1.065000	0.40693	0.655000	0.94253	ATC	C17orf102	-	NULL		0.468	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf102	HGNC	protein_coding	OTTHUMT00000346435.1	G	NM_207454		32904615	-1	no_errors	ENST00000357754	ensembl	human	known	70_37	missense	SNP	0.000	C	C	32904615	G	C	32904615	3	2	185	1	0	0	0	0	1	0	0	0	1853	1280	45	1	72	1	C17orf102	17	32904615	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2384373	32904615	48290595	1294	35569										
MMP28	79148	genome.wustl.edu	37	chr17	34100312	34100312	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagacgttgctccacaactgGaaggcggcgcgcacggcgcc	15	14	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:34100312G>A								C17orf50 (8214 upstream) : MMP28 (5196 downstream)																							TCCACAACTGGAAGGCGGCGC	0.642																																																	0													42	49	47					17																	34100312		2202	4299	6501	SO:0001628	intergenic_variant	79148																															17.37:g.34100312G>A				Missense_Mutation	SNP	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like	p.S159F		37	c.476		17																																																																																			MMP28	-	NULL	0	0.642					MMP28	HGNC			G			34100312	-1	no_errors	ENST00000587639	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34100312	G	A	34100312	1	1	185	0	1	0	0	0	0	0	0	0	9688	1174	41	1		1	MMP28	17	34100312	IGR	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1195697	34100312	47094898	1295	35570										
CCL15	6359	genome.wustl.edu	37	chr17	34325388	34325388	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgaacacgggatgctttgtGagatgtaggaggtgcagcag	17	5	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:34325388G>A	ENST00000354059.4	-	3	728	c.176C>T	c.(175-177)tCa>tTa	p.S59L	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.S59L	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	59					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATGCTTTGTGAGATGTAGGA	0.498																																																	0													76	65	69					17																	34325388		2203	4300	6503	SO:0001583	missense	6359			AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"Chemokine ligands", "Endogenous ligands"	10613	protein-coding gene	gene with protein product	"leukotactin 1", "CC chemokine 3", "macrophage inflammatory protein 5", "chemokine CC-2", "MIP-1 delta"	601393	"small inducible cytokine subfamily A (Cys-Cys), member 15"	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.176C>T	17.37:g.34325388G>A	ENSP00000293276:p.Ser59Leu		B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.S59L	ENST00000354059.4	37	c.176	CCDS11304.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.95|11.95	1.792046|1.792046	0.31685|0.31685	.|.	.|.	ENSG00000161574|ENSG00000161574	ENST00000394506|ENST00000354059	.|T	.|0.15718	.|2.4	4.44|4.44	-3.29|-3.29	0.05017|0.05017	.|CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	.|2.439520	.|0.02050	.|N	.|0.049956	T|T	0.20170|0.20170	0.0485|0.0485	L|L	0.61036|0.61036	1.89|1.89	0.09310|0.09310	N|N	1|1	.|P	.|0.44521	.|0.837	.|P	.|0.45794	.|0.493	T|T	0.30822|0.30822	-0.9965|-0.9965	5|10	.|0.56958	.|D	.|0.05	.|.	0.769|0.769	0.01020|0.01020	0.1828:0.2836:0.2449:0.2887|0.1828:0.2836:0.2449:0.2887	.|.	.|59	.|Q16663	.|CCL15_HUMAN	Y|L	7|59	.|ENSP00000293276:S59L	.|ENSP00000293276:S59L	H|S	-|-	1|2	0|0	CCL15|CCL15	31349501|31349501	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.243000|-0.243000	0.08915|0.08915	-0.298000|-0.298000	0.08921|0.08921	-0.152000|-0.152000	0.13540|0.13540	CAC|TCA	CCL15	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.498	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL15	HGNC	protein_coding	OTTHUMT00000256584.2	G	NM_004167		34325388	-1	no_errors	ENST00000354059	ensembl	human	known	70_37	missense	SNP	0.000	A	A	34325388	G	A	34325388	3	1	185	1	0	0	0	0	1	0	0	0	2891	1294	45	1	173	1	CCL15	17	34325388	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	225076	34325388	46869822	1296	35571										
GPR179	440435	genome.wustl.edu	37	chr17	36499245	36499245	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagcaaagccctgtacactCttgggtccccctcggccacg	9	17	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:36499245C>T	ENST00000342292.4	-	1	448	c.428G>A	c.(427-429)aGa>aAa	p.R143K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	143					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGTACACTCTTGGGTCCCC	0.622																																																	0													51	54	53					17																	36499245		2105	4219	6324	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.428G>A	17.37:g.36499245C>T	ENSP00000345060:p.Arg143Lys			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.R143K	ENST00000342292.4	37	c.428	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143486	0.01728	.	.	ENSG00000188888	ENST00000342292	T	0.77750	-1.12	5.67	-0.0876	0.13677	.	0.466449	0.22036	N	0.065531	T	0.53433	0.1796	N	0.17082	0.46	0.09310	N	1	B	0.22276	0.067	B	0.12156	0.007	T	0.30679	-0.9970	10	0.17832	T	0.49	-11.7207	5.4437	0.16523	0.0:0.3685:0.1455:0.486	.	143	Q6PRD1	GP179_HUMAN	K	143	ENSP00000345060:R143K	ENSP00000345060:R143K	R	-	2	0	GPR179	33752771	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	-0.150000	0.10189	0.128000	0.18479	-0.140000	0.14226	AGA	GPR179	-	NULL		0.622	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36499245	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36499245	C	T	36499245	3	4	185	1	0	0	0	0	1	0	0	0	6693	913	32	1	6719	1	GPR179	17	36499245	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2173857	36499245	44695965	1297	35572										
PLXDC1	57125	genome.wustl.edu	37	chr17	37296064	37296064	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccctttggcagcccatccaGagcctgggccctcatcgtga	10	16	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:37296064G>A	ENST00000315392.4	-	2	309	c.98C>T	c.(97-99)tCt>tTt	p.S33F	PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.S33F	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	33					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCCATCCAGAGCCTGGGCC	0.632																																																	0													37	38	38					17																	37296064		2203	4300	6503	SO:0001583	missense	57125			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.98C>T	17.37:g.37296064G>A	ENSP00000323927:p.Ser33Phe		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold	p.S33F	ENST00000315392.4	37	c.98	CCDS11333.1	17	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477044	0.26511	.	.	ENSG00000161381	ENST00000315392;ENST00000394316	T	0.24151	1.87	5.39	1.93	0.25924	.	0.593130	0.16049	N	0.232046	T	0.17280	0.0415	L	0.40543	1.245	0.18873	N	0.999983	B	0.06786	0.001	B	0.04013	0.001	T	0.13442	-1.0509	10	0.48119	T	0.1	-0.8868	3.8093	0.08791	0.0917:0.1607:0.5823:0.1654	.	33	Q8IUK5	PXDC1_HUMAN	F	33	ENSP00000323927:S33F	ENSP00000323927:S33F	S	-	2	0	PLXDC1	34549590	0.030000	0.19436	0.991000	0.47740	0.916000	0.54674	0.381000	0.20619	1.288000	0.44600	0.561000	0.74099	TCT	PLXDC1	-	NULL		0.632	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	G	NM_020405		37296064	-1	no_errors	ENST00000315392	ensembl	human	known	70_37	missense	SNP	0.338	A	A	37296064	G	A	37296064	3	1	185	1	0	0	0	0	1	0	0	0	12141	942	33	1	1456	1	PLXDC1	17	37296064	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	796819	37296064	43899146	1298	35573										
MED1	5469	genome.wustl.edu	37	chr17	37565069	37565069	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggctagatccagaagacccCtggctagaatacatactgct	9	11	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:37565069C>G	ENST00000300651.6	-	17	3628	c.3405G>C	c.(3403-3405)caG>caC	p.Q1135H	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CAGAAGACCCCTGGCTAGAAT	0.493										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													56	53	54					17																	37565069		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3405G>C	17.37:g.37565069C>G	ENSP00000300651:p.Gln1135His		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.Q1135H	ENST00000300651.6	37	c.3405	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.982909	0.02180	.	.	ENSG00000125686	ENST00000300651	T	0.33216	1.42	5.35	0.729	0.18266	.	.	.	.	.	T	0.21590	0.0520	N	0.19112	0.55	0.45914	D	0.998752	P	0.52316	0.952	P	0.45881	0.496	T	0.02184	-1.1199	9	0.41790	T	0.15	-7.5444	9.9639	0.41712	0.0:0.3817:0.0:0.6183	.	1135	Q15648	MED1_HUMAN	H	1135	ENSP00000300651:Q1135H	ENSP00000300651:Q1135H	Q	-	3	2	MED1	34818595	0.613000	0.27009	0.993000	0.49108	0.671000	0.39405	-0.324000	0.07986	0.001000	0.14605	-0.302000	0.09304	CAG	MED1	-	NULL		0.493	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	C	NM_004774		37565069	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	0.953	G	G	37565069	C	G	37565069	3	3	185	1	0	0	0	0	1	0	0	0	9448	680	24	4	1344	4	MED1	17	37565069	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	269005	37565069	43630141	1299	35574										
STARD3	10948	genome.wustl.edu	37	chr17	37815315	37815315	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttctgcagggtctgacaatGaatcagatgaagaagttgct	11	6	3	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:37815315G>A	ENST00000336308.5	+	8	876	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	STARD3_ENST00000544210.2_Missense_Mutation_p.E220K|STARD3_ENST00000394250.4_Missense_Mutation_p.E202K|STARD3_ENST00000580611.1_Missense_Mutation_p.E194K|STARD3_ENST00000578232.1_3'UTR	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	220					cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCTGACAATGAATCAGATGA	0.542																																																	0													222	215	217					17																	37815315		2203	4300	6503	SO:0001583	missense	10948				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.658G>A	17.37:g.37815315G>A	ENSP00000337446:p.Glu220Lys		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR	p.E220K	ENST00000336308.5	37	c.658	CCDS11341.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428253	0.83667	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	D;D;D	0.85339	-1.96;-1.93;-1.97	5.0	5.0	0.66597	START-like domain (1);	0.447401	0.24606	N	0.037091	D	0.85952	0.5817	L	0.61218	1.895	0.49915	D	0.999832	B;P;B;B	0.34977	0.426;0.478;0.148;0.27	B;B;B;B	0.42245	0.381;0.341;0.069;0.092	D	0.84628	0.0688	10	0.34782	T	0.22	-16.4104	15.4337	0.75125	0.0:0.0:1.0:0.0	.	220;220;202;220	F5H0G2;B4DUY1;A8MXA4;Q14849	.;.;.;STAR3_HUMAN	K	220;220;202	ENSP00000337446:E220K;ENSP00000439869:E220K;ENSP00000377794:E202K	ENSP00000337446:E220K	E	+	1	0	STARD3	35068841	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.460000	0.66691	2.314000	0.78098	0.655000	0.94253	GAA	STARD3	-	NULL		0.542	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3	HGNC	protein_coding	OTTHUMT00000256933.1	G			37815315	1	no_errors	ENST00000336308	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37815315	G	A	37815315	3	1	185	1	0	0	0	0	1	0	0	0	15287	1291	45	1	697	1	STARD3	17	37815315	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	250246	37815315	43379895	1300	35575										
KRT28	162605	genome.wustl.edu	37	chr17	38950178	38950178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atactccagcttctggccctCggtctcggttctgacctggt	10	14	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:38950178C>T	ENST00000306658.7	-	6	1164	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCTGGCCCTCGGTCTCGGTT	0.552																																					Melanoma(19;789 869 15380 26882 39836)												0													149	146	147					17																	38950178		2203	4300	6503	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1099G>A	17.37:g.38950178C>T	ENSP00000305263:p.Glu367Lys			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E367K	ENST00000306658.7	37	c.1099	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679282	0.88542	.	.	ENSG00000173908	ENST00000306658	D	0.89746	-2.56	5.7	5.7	0.88788	Filament (1);	0.000000	0.64402	D	0.000009	D	0.94308	0.8171	M	0.83953	2.67	0.44843	D	0.99785	D	0.65815	0.995	P	0.60012	0.867	D	0.94425	0.7644	10	0.72032	D	0.01	.	19.1857	0.93642	0.0:1.0:0.0:0.0	.	367	Q7Z3Y7	K1C28_HUMAN	K	367	ENSP00000305263:E367K	ENSP00000305263:E367K	E	-	1	0	KRT28	36203704	0.948000	0.32251	1.000000	0.80357	0.981000	0.71138	2.116000	0.41930	2.846000	0.97976	0.650000	0.86243	GAG	KRT28	-	pfam_F,prints_Keratin_I		0.552	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	C	NM_181535		38950178	-1	no_errors	ENST00000306658	ensembl	human	known	70_37	missense	SNP	0.997	T	T	38950178	C	T	38950178	3	4	185	1	0	0	0	0	1	0	0	0	8485	893	31	1	307	1	KRT28	17	38950178	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1134863	38950178	42245032	1301	35576										
KRT28	162605	genome.wustl.edu	37	chr17	38950189	38950189	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctggccctcggtctcggttCtgacctggtgcagctgctcc	12	15	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:38950189C>T	ENST00000306658.7	-	6	1153	c.1088G>A	c.(1087-1089)aGa>aAa	p.R363K		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGTCTCGGTTCTGACCTGGTG	0.567																																					Melanoma(19;789 869 15380 26882 39836)												0													145	143	144					17																	38950189		2203	4300	6503	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1088G>A	17.37:g.38950189C>T	ENSP00000305263:p.Arg363Lys			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R363K	ENST00000306658.7	37	c.1088	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973906	0.92919	.	.	ENSG00000173908	ENST00000306658	D	0.88354	-2.37	5.7	5.7	0.88788	Filament (1);	0.000000	0.64402	D	0.000019	D	0.90556	0.7040	L	0.45352	1.415	0.20764	N	0.99985	D	0.55605	0.972	P	0.60415	0.874	D	0.84702	0.0729	10	0.87932	D	0	.	12.5091	0.55997	0.0:0.9238:0.0:0.0761	.	363	Q7Z3Y7	K1C28_HUMAN	K	363	ENSP00000305263:R363K	ENSP00000305263:R363K	R	-	2	0	KRT28	36203715	0.383000	0.25156	0.729000	0.30791	0.953000	0.61014	4.970000	0.63742	2.846000	0.97976	0.650000	0.86243	AGA	KRT28	-	pfam_F,prints_Keratin_I		0.567	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	C	NM_181535		38950189	-1	no_errors	ENST00000306658	ensembl	human	known	70_37	missense	SNP	0.317	T	T	38950189	C	T	38950189	3	4	185	1	0	0	0	0	1	0	0	0	8485	913	32	1	318	1	KRT28	17	38950189	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	11	38950189	42245021	1302	35577										
KRT10	3858	genome.wustl.edu	37	chr17	38977328	38977328	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccagcctggcattgtcgatCtgaagcaggatgttggcatt	13	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:38977328C>G	ENST00000269576.5	-	2	678	c.669G>C	c.(667-669)caG>caC	p.Q223H	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	223	Coil 1B.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CATTGTCGATCTGAAGCAGGA	0.418																																																	0													116	90	99					17																	38977328		2203	4300	6503	SO:0001583	missense	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.669G>C	17.37:g.38977328C>G	ENSP00000269576:p.Gln223His		Q14664|Q8N175	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.Q223H	ENST00000269576.5	37	c.669	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906627	0.72868	.	.	ENSG00000186395	ENST00000269576	D	0.84516	-1.86	5.84	4.69	0.59074	Filament (1);	0.000000	0.34362	N	0.004027	D	0.92156	0.7513	M	0.86805	2.84	0.80722	D	1	P	0.35628	0.513	P	0.54706	0.759	D	0.91982	0.5595	10	0.54805	T	0.06	.	13.5601	0.61784	0.0:0.8733:0.0:0.1267	.	223	P13645	K1C10_HUMAN	H	223	ENSP00000269576:Q223H	ENSP00000269576:Q223H	Q	-	3	2	KRT10	36230854	0.001000	0.12720	0.998000	0.56505	0.980000	0.70556	-0.777000	0.04669	2.758000	0.94735	0.655000	0.94253	CAG	KRT10	-	pfam_F		0.418	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	C	NM_000421		38977328	-1	no_errors	ENST00000269576	ensembl	human	known	70_37	missense	SNP	0.947	G	G	38977328	C	G	38977328	3	3	185	1	0	0	0	0	1	0	0	0	8468	912	32	1	1113	1	KRT10	17	38977328	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	27139	38977328	42217882	1303	35578										
KRT20	54474	genome.wustl.edu	37	chr17	39041065	39041065	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacctgacttcgcagctcttCaatttgtctgtaatatgcac	6	12	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39041065C>T	ENST00000167588.3	-	1	414	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	125	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CGCAGCTCTTCAATTTGTCTG	0.453																																																	0													90	88	89					17																	39041065		2203	4300	6503	SO:0001583	missense	54474			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.373G>A	17.37:g.39041065C>T	ENSP00000167588:p.Glu125Lys		B2R6W7	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E125K	ENST00000167588.3	37	c.373	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041713	0.35989	.	.	ENSG00000171431	ENST00000167588	D	0.89123	-2.47	5.5	-5.3	0.02738	Filament (1);	0.433927	0.21267	N	0.077390	T	0.80954	0.4723	L	0.43701	1.375	0.09310	N	1	B	0.13145	0.007	B	0.17433	0.018	T	0.64499	-0.6393	10	0.59425	D	0.04	.	9.8465	0.41030	0.0:0.3068:0.5111:0.1821	.	125	P35900	K1C20_HUMAN	K	125	ENSP00000167588:E125K	ENSP00000167588:E125K	E	-	1	0	KRT20	36294591	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.718000	0.04980	-1.386000	0.02098	-0.878000	0.02970	GAA	KRT20	-	pfam_F		0.453	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2	C			39041065	-1	no_errors	ENST00000167588	ensembl	human	known	70_37	missense	SNP	0.005	T	T	39041065	C	T	39041065	3	4	185	1	0	0	0	0	1	0	0	0	8478	835	29	1	933	1	KRT20	17	39041065	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	63737	39041065	42154145	1304	35579										
KRTAP9-3	83900	genome.wustl.edu	37	chr17	39389159	39389159	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgccgcccagcctgctgtGagaccacctgctgcaggacc	12	17	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39389159G>A	ENST00000411528.2	+	1	445	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	136	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCCTGCTGTGAGACCACCTG	0.572																																																	0													116	144	135					17																	39389159		2101	4298	6399	SO:0001583	missense	83900			AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.406G>A	17.37:g.39389159G>A	ENSP00000392189:p.Glu136Lys			Missense_Mutation	SNP	NULL	p.E136K	ENST00000411528.2	37	c.406	CCDS11385.1	17	.	.	.	.	.	.	.	.	.	.	.	8.220	0.802310	0.16397	.	.	ENSG00000204873	ENST00000411528	T	0.01359	4.98	2.02	-4.05	0.03998	.	.	.	.	.	T	0.00468	0.0015	N	0.01168	-0.975	0.09310	N	1	.	.	.	.	.	.	T	0.41270	-0.9518	7	0.06099	T	0.92	.	3.8077	0.08783	0.1384:0.1749:0.5479:0.1387	.	.	.	.	K	136	ENSP00000392189:E136K	ENSP00000392189:E136K	E	+	1	0	KRTAP9-3	36642685	0.000000	0.05858	0.000000	0.03702	0.499000	0.33736	-0.586000	0.05787	-1.508000	0.01800	0.194000	0.17425	GAG	KRTAP9-3	-	NULL		0.572	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-3	HGNC	protein_coding	OTTHUMT00000257290.1	G			39389159	1	no_errors	ENST00000411528	ensembl	human	known	70_37	missense	SNP	0.092	A	A	39389159	G	A	39389159	3	1	185	1	0	0	0	0	1	0	0	0	8594	1291	45	1	408	1	KRTAP9-3	17	39389159	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	348094	39389159	41806051	1305	35580										
KRT37	8688	genome.wustl.edu	37	chr17	39577629	39577629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcacacgtacttgcagtcctCgctctccagaaggttccggt	9	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39577629C>T	ENST00000225550.3	-	6	1230	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	411	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTGCAGTCCTCGCTCTCCAGA	0.547																																																	0													110	85	94					17																	39577629		2203	4300	6503	SO:0001583	missense	8688			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1231G>A	17.37:g.39577629C>T	ENSP00000225550:p.Glu411Lys			Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E411K	ENST00000225550.3	37	c.1231	CCDS32653.1	17	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442177	0.63067	.	.	ENSG00000108417	ENST00000225550	D	0.93366	-3.21	5.61	4.64	0.57946	Filament (1);	0.000000	0.49916	D	0.000126	D	0.93631	0.7966	H	0.95884	3.735	0.31746	N	0.635159	P	0.47841	0.901	B	0.34093	0.175	D	0.94118	0.7377	10	0.87932	D	0	.	9.416	0.38521	0.0:0.6711:0.2535:0.0754	.	411	O76014	KRT37_HUMAN	K	411	ENSP00000225550:E411K	ENSP00000225550:E411K	E	-	1	0	KRT37	36831155	0.871000	0.30034	0.884000	0.34674	0.878000	0.50629	3.719000	0.54926	1.372000	0.46190	0.655000	0.94253	GAG	KRT37	-	pfam_F		0.547	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	HGNC	protein_coding	OTTHUMT00000257714.2	C	NM_003770		39577629	-1	no_errors	ENST00000225550	ensembl	human	known	70_37	missense	SNP	0.981	T	T	39577629	C	T	39577629	3	4	185	1	0	0	0	0	1	0	0	0	8494	893	31	1	126	1	KRT37	17	39577629	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	188470	39577629	41617581	1306	35581										
KRT19	3880	genome.wustl.edu	37	chr17	39684455	39684455	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagccgccgcccaggcctccGaaggacgacgtggccgacga	15	16	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39684455G>A	ENST00000361566.3	-	1	105	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	15	Head.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCAGGCCTCCGAAGGACGACG	0.697																																																	0													9	11	10					17																	39684455		1978	3921	5899	SO:0001819	synonymous_variant	3880				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.45C>T	17.37:g.39684455G>A			B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.F15	ENST00000361566.3	37	c.45	CCDS11399.1	17																																																																																			KRT19	-	NULL		0.697	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	HGNC	protein_coding	OTTHUMT00000257285.1	G	NM_002276		39684455	-1	no_errors	ENST00000361566	ensembl	human	known	70_37	silent	SNP	0.994	A	A	39684455	G	A	39684455	2	1	185	1	0	0	0	0	0	0	0	1	8476	1049	37	1		1	KRT19	17	39684455	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	106826	39684455	41510755	1307	35582										
KRT9	3857	genome.wustl.edu	37	chr17	39728212	39728212	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacccccgccgctgcggctCaagtaggacgaggagaactg	13	15	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39728212C>G	ENST00000246662.4	-	1	98	c.33G>C	c.(31-33)ttG>ttC	p.L11F	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	11	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CGCTGCGGCTCAAGTAGGACG	0.652																																																	0													5	6	6					17																	39728212		2128	4188	6316	SO:0001583	missense	3857				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.33G>C	17.37:g.39728212C>G	ENSP00000246662:p.Leu11Phe		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.L11F	ENST00000246662.4	37	c.33	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928894	0.18131	.	.	ENSG00000171403	ENST00000246662	T	0.81078	-1.45	4.8	-2.43	0.06522	.	2.689480	0.01592	N	0.021614	T	0.67287	0.2877	N	0.12182	0.205	0.09310	N	1	B	0.23540	0.087	B	0.14023	0.01	T	0.60439	-0.7263	10	0.87932	D	0	.	11.352	0.49594	0.0:0.3823:0.5352:0.0825	.	11	P35527	K1C9_HUMAN	F	11	ENSP00000246662:L11F	ENSP00000246662:L11F	L	-	3	2	KRT9	36981738	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.320000	0.02700	0.013000	0.14918	-0.282000	0.10007	TTG	KRT9	-	NULL		0.652	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	C	NM_000226		39728212	-1	no_errors	ENST00000246662	ensembl	human	known	70_37	missense	SNP	0.000	G	G	39728212	C	G	39728212	3	3	185	1	0	0	0	0	1	0	0	0	8521	825	29	1	1866	1	KRT9	17	39728212	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	43757	39728212	41466998	1308	35583										
JUP	3728	genome.wustl.edu	37	chr17	39913930	39913930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcaactccatgagtggggccGaggccccctctgcatcaatg	12	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:39913930G>A	ENST00000393931.3	-	11	1998	c.1880C>T	c.(1879-1881)tCg>tTg	p.S627L	JUP_ENST00000310706.5_Missense_Mutation_p.S627L|JUP_ENST00000393930.1_Missense_Mutation_p.S627L|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	627	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAGTGGGGCCGAGGCCCCCTC	0.682																																					Colon(16;42 520 6044 17852 28530)												0													26	27	27					17																	39913930		2202	4300	6502	SO:0001583	missense	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1880C>T	17.37:g.39913930G>A	ENSP00000377508:p.Ser627Leu		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S627L	ENST00000393931.3	37	c.1880	CCDS11407.1	17	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057736	0.55325	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.60672	0.17;0.17;0.17	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.132361	0.53938	D	0.000059	T	0.42200	0.1192	L	0.34521	1.04	0.80722	D	1	D	0.59357	0.985	B	0.32724	0.151	T	0.53507	-0.8429	10	0.52906	T	0.07	-10.5587	16.7016	0.85350	0.0:0.0:1.0:0.0	.	627	P14923	PLAK_HUMAN	L	627	ENSP00000377507:S627L;ENSP00000311113:S627L;ENSP00000377508:S627L	ENSP00000311113:S627L	S	-	2	0	JUP	37167456	1.000000	0.71417	0.916000	0.36221	0.224000	0.24922	7.416000	0.80143	2.595000	0.87683	0.561000	0.74099	TCG	JUP	-	superfamily_ARM-type_fold,smart_Armadillo		0.682	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	G			39913930	-1	no_errors	ENST00000310706	ensembl	human	known	70_37	missense	SNP	0.995	A	A	39913930	G	A	39913930	3	1	185	1	0	0	0	0	1	0	0	0	7992	1059	37	1	373	1	JUP	17	39913930	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	185718	39913930	41281280	1309	35584										
GHDC	84514	genome.wustl.edu	37	chr17	40342363	40342363	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctagtgtcctctgccctatCtgttcttccccactctgaga	6	15	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:40342363C>G	ENST00000301671.8	-	8	1730				GHDC_ENST00000436923.2_Missense_Mutation_p.D435H|GHDC_ENST00000414034.3_Missense_Mutation_p.D435H|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000587427.1_Intron|GHDC_ENST00000593209.1_Intron|GHDC_ENST00000428494.2_Intron			Q8N2G8	GHDC_HUMAN	GH3 domain containing							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCTGCCCTATCTGTTCTTCCC	0.507																																																	0													144	116	125					17																	40342363		692	1591	2283	SO:0001627	intron_variant	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1289-75G>C	17.37:g.40342363C>G			B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	pfam_GH3	p.D435H	ENST00000301671.8	37	c.1303	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295826	0.23564	.	.	ENSG00000167925	ENST00000414034;ENST00000436923	.	.	.	3.69	-0.679	0.11350	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23084	-1.0198	7	0.52906	T	0.07	.	3.3879	0.07278	0.0:0.4384:0.2031:0.3585	.	435	Q8N2G8-2	.	H	435	.	ENSP00000399952:D435H	D	-	1	0	GHDC	37595889	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.079000	0.11357	0.037000	0.15575	-0.304000	0.09214	GAT	GHDC	-	NULL		0.507	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1	C	NM_032484		40342363	-1	no_errors	ENST00000436923	ensembl	human	known	70_37	missense	SNP	0.000	G	G	40342363	C	G	40342363	1	3	185	0	1	0	0	0	0	0	0	0	6388	913	32	1		1	GHDC	17	40342363	Intron	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	428433	40342363	40852847	1310	35585										
GHDC	84514	genome.wustl.edu	37	chr17	40342672	40342672	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctctccacacagccatggtCcagcagcttggcccccgccc	9	20	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:40342672C>G	ENST00000301671.8	-	7	1699	c.1258G>C	c.(1258-1260)Gac>Cac	p.D420H	GHDC_ENST00000436923.2_Missense_Mutation_p.D420H|GHDC_ENST00000414034.3_Missense_Mutation_p.D420H|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000587427.1_Missense_Mutation_p.D420H|GHDC_ENST00000593209.1_Missense_Mutation_p.D420H|GHDC_ENST00000428494.2_Missense_Mutation_p.D381H			Q8N2G8	GHDC_HUMAN	GH3 domain containing	420				D -> G (in Ref. 2; BAC11514). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAGCCATGGTCCAGCAGCTTG	0.642																																																	0													33	32	32					17																	40342672		2203	4300	6503	SO:0001583	missense	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1258G>C	17.37:g.40342672C>G	ENSP00000301671:p.Asp420His		B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	pfam_GH3	p.D420H	ENST00000301671.8	37	c.1258	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917126	0.52546	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.18	4.18	0.49190	.	0.059460	0.64402	D	0.000003	T	0.76983	0.4064	M	0.79926	2.475	0.51482	D	0.999928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.997;1.0	T	0.78748	-0.2083	9	0.59425	D	0.04	-17.1521	9.4557	0.38753	0.0:0.9029:0.0:0.0971	.	381;420;420	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	H	364;381;420;420;420	.	ENSP00000301671:D420H	D	-	1	0	GHDC	37596198	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	3.919000	0.56439	2.146000	0.66826	0.561000	0.74099	GAC	GHDC	-	pfam_GH3		0.642	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1	C	NM_032484		40342672	-1	no_errors	ENST00000301671	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40342672	C	G	40342672	3	3	185	1	0	0	0	0	1	0	0	0	6388	855	30	1	435	1	GHDC	17	40342672	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	309	40342672	40852538	1311	35586										
CNTNAP1	8506	genome.wustl.edu	37	chr17	40849680	40849680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcccctcaagacccacttccGaacccctcgacccatgactg	5	20	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:40849680G>A	ENST00000264638.4	+	22	3894	c.3677G>A	c.(3676-3678)cGa>cAa	p.R1226Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1226	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACCCACTTCCGAACCCCTCGA	0.557																																																	0													126	115	119					17																	40849680		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3677G>A	17.37:g.40849680G>A	ENSP00000264638:p.Arg1226Gln			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R1226Q	ENST00000264638.4	37	c.3677	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977383	0.74360	.	.	ENSG00000108797	ENST00000264638	D	0.90197	-2.63	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.53938	D	0.000059	D	0.85682	0.5753	L	0.45051	1.395	0.33453	D	0.583988	D	0.53745	0.962	B	0.42555	0.391	D	0.87344	0.2333	10	0.28530	T	0.3	.	9.9915	0.41874	0.1528:0.0:0.8472:0.0	.	1226	P78357	CNTP1_HUMAN	Q	1226	ENSP00000264638:R1226Q	ENSP00000264638:R1226Q	R	+	2	0	CNTNAP1	38103206	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.107000	0.77047	2.564000	0.86499	0.650000	0.86243	CGA	CNTNAP1	-	pfscan_Laminin_G		0.557	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	G	NM_003632		40849680	1	no_errors	ENST00000264638	ensembl	human	known	70_37	missense	SNP	0.998	A	A	40849680	G	A	40849680	3	1	185	1	0	0	0	0	1	0	0	0	3651	1058	37	1	3763	1	CNTNAP1	17	40849680	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	507008	40849680	40345530	1312	35587										
AOC2	314	genome.wustl.edu	37	chr17	41001113	41001113	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccctggcagggctgaaaaaCtgggtggtagctgaagacgt	15	9	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:41001113C>G	ENST00000253799.3	+	2	1626	c.1599C>G	c.(1597-1599)aaC>aaG	p.N533K	AOC2_ENST00000452774.2_Missense_Mutation_p.N533K|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	533					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGCTGAAAAACTGGGTGGTAG	0.602																																																	0													55	43	47					17																	41001113		2203	4300	6503	SO:0001583	missense	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1599C>G	17.37:g.41001113C>G	ENSP00000253799:p.Asn533Lys		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.N533K	ENST00000253799.3	37	c.1599	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383007	0.61845	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.22945	1.93;1.93	5.05	4.02	0.46733	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	M	0.92317	3.295	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.62167	-0.6911	10	0.87932	D	0	-31.5377	8.1249	0.30992	0.0:0.7778:0.0:0.2222	.	533;533	O75106;O75106-2	AOC2_HUMAN;.	K	533	ENSP00000253799:N533K;ENSP00000406134:N533K	ENSP00000253799:N533K	N	+	3	2	AOC2	38254639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.053000	0.30442	2.624000	0.88883	0.655000	0.94253	AAC	AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C		0.602	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	C	NM_009590, NM_001158		41001113	1	no_errors	ENST00000253799	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41001113	C	G	41001113	3	3	185	1	0	0	0	0	1	0	0	0	727	564	20	4	1605	4	AOC2	17	41001113	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	151433	41001113	40194097	1313	35588										
ARL4D	379	genome.wustl.edu	37	chr17	41477529	41477529	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caggaccagcccggggcactGagcgctgctgaggtggagaa	17	11	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:41477529G>A	ENST00000320033.4	+	2	636	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	143					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L143L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCGGGGCACTGAGCGCTGCTG	0.657																																																	1	Substitution - coding silent(1)	urinary_tract(1)											20	21	20					17																	41477529		2201	4299	6500	SO:0001819	synonymous_variant	379			AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	656	protein-coding gene	gene with protein product		600732	"ADP-ribosylation factor 4-like"	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.429G>A	17.37:g.41477529G>A			B2RC59|D3DX43	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L143	ENST00000320033.4	37	c.429	CCDS11463.1	17																																																																																			ARL4D	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.657	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL4D	HGNC	protein_coding	OTTHUMT00000453481.2	G	NM_001661		41477529	1	no_errors	ENST00000320033	ensembl	human	known	70_37	silent	SNP	0.947	A	A	41477529	G	A	41477529	2	1	185	1	0	0	0	0	0	0	0	1	939	1277	45	1		1	ARL4D	17	41477529	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	476416	41477529	39717681	1314	35589										
MPP3	4356	genome.wustl.edu	37	chr17	41891626	41891626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggtacctggccacctcttcGtaagtcagcagctccggaga	11	13	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:41891626G>A	ENST00000398389.4	-	15	1278	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398393.1_Silent_p.Y396Y	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	371					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CCACCTCTTCGTAAGTCAGCA	0.612																																																	0													97	108	105					17																	41891626		1920	4132	6052	SO:0001819	synonymous_variant	4356				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1113C>T	17.37:g.41891626G>A			B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.Y371	ENST00000398389.4	37	c.1113	CCDS42344.1	17																																																																																			MPP3	-	NULL		0.612	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1	G	NM_001932		41891626	-1	no_errors	ENST00000398389	ensembl	human	known	70_37	silent	SNP	0.991	A	A	41891626	G	A	41891626	2	1	185	1	0	0	0	0	0	0	0	1	9758	1140	40	2		2	MPP3	17	41891626	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	414097	41891626	39303584	1315	35590										
G6PC3	92579	genome.wustl.edu	37	chr17	42151565	42151565	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcccttttggtgggtccatGagtctggttactacagccag	13	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:42151565G>C	ENST00000269097.4	+	2	487	c.256G>C	c.(256-258)Gag>Cag	p.E86Q		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	86					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTGGGTCCATGAGTCTGGTTA	0.537																																																	0													246	236	240					17																	42151565		2203	4300	6503	SO:0001583	missense	92579			BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.256G>C	17.37:g.42151565G>C	ENSP00000269097:p.Glu86Gln		Q8WU15	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.E86Q	ENST00000269097.4	37	c.256	CCDS11476.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945089	0.73672	.	.	ENSG00000141349	ENST00000269097	T	0.75704	-0.96	5.1	5.1	0.69264	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.057762	0.64402	D	0.000003	T	0.76997	0.4066	M	0.65320	2	0.45378	D	0.998361	P	0.48089	0.905	P	0.47376	0.545	T	0.79572	-0.1748	10	0.54805	T	0.06	-24.4751	15.4456	0.75228	0.0:0.0:1.0:0.0	.	86	Q9BUM1	G6PC3_HUMAN	Q	86	ENSP00000269097:E86Q	ENSP00000269097:E86Q	E	+	1	0	G6PC3	39507091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.547000	0.73892	2.368000	0.80403	0.561000	0.74099	GAG	G6PC3	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase		0.537	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC3	HGNC	protein_coding	OTTHUMT00000457675.1	G	NM_138387		42151565	1	no_errors	ENST00000269097	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42151565	G	C	42151565	3	2	185	1	0	0	0	0	1	0	0	0	6163	1291	45	1	262	1	G6PC3	17	42151565	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	259939	42151565	39043645	1316	35591										
TMUB2	79089	genome.wustl.edu	37	chr17	42266673	42266673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccatccatcagagggtaatGatgagaaggctgaagaggcg	14	8	1	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:42266673G>A	ENST00000587989.1	+	3	472	c.319G>A	c.(319-321)Gat>Aat	p.D107N	TMUB2_ENST00000590235.1_Intron|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000589184.1_Intron|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000319511.6_Missense_Mutation_p.D87N|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000357984.3_Missense_Mutation_p.D87N|TMUB2_ENST00000446571.3_Intron|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.D87N|TMUB2_ENST00000589856.1_Missense_Mutation_p.D87N|TMUB2_ENST00000538716.2_Missense_Mutation_p.D107N			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	107						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGAGGGTAATGATGAGAAGGC	0.617																																																	0													65	69	68					17																	42266673		2203	4300	6503	SO:0001583	missense	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.319G>A	17.37:g.42266673G>A	ENSP00000466971:p.Asp107Asn		B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.D107N	ENST00000587989.1	37	c.319	CCDS54134.1	17	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337145	0.60963	.	.	ENSG00000168591	ENST00000357984;ENST00000538716;ENST00000319511	T;T;T	0.43294	0.96;0.95;0.96	5.21	5.21	0.72293	.	0.173559	0.49916	D	0.000123	T	0.37598	0.1009	L	0.36672	1.1	0.43798	D	0.996347	P;P	0.38922	0.589;0.651	B;B	0.39027	0.288;0.15	T	0.12837	-1.0532	10	0.32370	T	0.25	.	17.5194	0.87783	0.0:0.0:1.0:0.0	.	87;107	Q71RG4-3;Q71RG4	.;TMUB2_HUMAN	N	87;107;87	ENSP00000350672:D87N;ENSP00000444565:D107N;ENSP00000313214:D87N	ENSP00000313214:D87N	D	+	1	0	TMUB2	39622199	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.549000	0.82163	2.404000	0.81709	0.561000	0.74099	GAT	TMUB2	-	NULL		0.617	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMUB2	HGNC	protein_coding	OTTHUMT00000457711.1	G	NM_177441		42266673	1	no_errors	ENST00000538716	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42266673	G	A	42266673	3	1	185	1	0	0	0	0	1	0	0	0	16295	1290	45	1	325	1	TMUB2	17	42266673	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	115108	42266673	38928537	1317	35592										
GPATCH8	23131	genome.wustl.edu	37	chr17	42478508	42478508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaaaactgatgctattgattCgagtttgacaggagcctttt	10	6	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:42478508C>T	ENST00000591680.1	-	8	967	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	GPATCH8_ENST00000434000.1_Missense_Mutation_p.E235K	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	313							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTATTGATTCGAGTTTGACA	0.458											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													165	180	175					17																	42478508		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.937G>A	17.37:g.42478508C>T	ENSP00000467556:p.Glu313Lys	909	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.E313K	ENST00000591680.1	37	c.937	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790752	0.70452	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.27557	1.66	5.65	5.65	0.86999	.	0.053566	0.64402	D	0.000001	T	0.53753	0.1816	M	0.73598	2.24	0.58432	D	0.999999	D	0.71674	0.998	P	0.57679	0.825	T	0.56786	-0.7921	10	0.72032	D	0.01	-20.115	19.724	0.96154	0.0:1.0:0.0:0.0	.	313	Q9UKJ3	GPTC8_HUMAN	K	313;235	ENSP00000395016:E235K	ENSP00000335486:E313K	E	-	1	0	GPATCH8	39834034	1.000000	0.71417	0.939000	0.37840	0.934000	0.57294	7.625000	0.83145	2.654000	0.90174	0.557000	0.71058	GAA	GPATCH8	-	NULL		0.458	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	C	NM_001002909		42478508	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	missense	SNP	1.000	T	T	42478508	C	T	42478508	3	4	185	1	0	0	0	0	1	0	0	0	6613	893	31	1	3575	1	GPATCH8	17	42478508	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	211835	42478508	38716702	1318	35593										
C1QL1	10882	genome.wustl.edu	37	chr17	43037648	43037648	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atccagcttgatgaagacctCgtcgccggcgtccaggtgca	12	13	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:43037648C>A	ENST00000253407.3	-	2	707	c.685G>T	c.(685-687)Gag>Tag	p.E229*		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	229	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				ATGAAGACCTCGTCGCCGGCG	0.607																																																	0													228	180	196					17																	43037648		2203	4300	6503	SO:0001587	stop_gained	10882			AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.685G>T	17.37:g.43037648C>A	ENSP00000253407:p.Glu229*			Nonsense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.E229*	ENST00000253407.3	37	c.685	CCDS11492.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.239218	0.97403	.	.	ENSG00000131094	ENST00000253407	.	.	.	4.7	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.0492	0.53498	0.0:0.914:0.0:0.086	.	.	.	.	X	229	.	ENSP00000253407:E229X	E	-	1	0	C1QL1	40393174	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.623000	0.83113	1.201000	0.43203	0.555000	0.69702	GAG	C1QL1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.607	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL1	HGNC	protein_coding	OTTHUMT00000371119.3	C	NM_006688		43037648	-1	no_errors	ENST00000253407	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	43037648	C	A	43037648	4	1	185	1	0	0	0	0	0	1	0	0	1963	893	31	3	95	3	C1QL1	17	43037648	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	559140	43037648	38157562	1319	35594										
PLCD3	113026	genome.wustl.edu	37	chr17	43192603	43192603	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccgacagctccggggagatCtgcttggcctaggagaccag	15	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:43192603C>A	ENST00000322765.5	-	10	1682	c.1569G>T	c.(1567-1569)caG>caT	p.Q523H	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	523					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CCGGGGAGATCTGCTTGGCCT	0.701																																																	0													17	22	20					17																	43192603		2072	4179	6251	SO:0001583	missense	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1569G>T	17.37:g.43192603C>A	ENSP00000313731:p.Gln523His		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.Q523H	ENST00000322765.5	37	c.1569		17	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946710	0.34377	.	.	ENSG00000161714	ENST00000322765	T	0.63096	-0.02	4.22	4.22	0.49857	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.175750	0.49916	D	0.000129	T	0.53351	0.1791	.	.	.	0.33448	D	0.58327	B	0.26120	0.142	B	0.15870	0.014	T	0.65471	-0.6160	9	0.52906	T	0.07	.	16.234	0.82361	0.0:1.0:0.0:0.0	.	523	Q8N3E9	PLCD3_HUMAN	H	523	ENSP00000313731:Q523H	ENSP00000313731:Q523H	Q	-	3	2	PLCD3	40548129	0.990000	0.36364	1.000000	0.80357	0.610000	0.37248	0.535000	0.23114	2.271000	0.75665	0.462000	0.41574	CAG	PLCD3	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.701	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		C	NM_133373		43192603	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43192603	C	A	43192603	3	1	185	1	0	0	0	0	1	0	0	0	12056	912	32	3	823	3	PLCD3	17	43192603	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	154955	43192603	38002607	1320	35595										
ACBD4	79777	genome.wustl.edu	37	chr17	43213571	43213571	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaacagttccaggctgcagtGagcgtcatccagaacctgcc	10	13	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:43213571G>A	ENST00000376955.4	+	2	357	c.60G>A	c.(58-60)gtG>gtA	p.V20V	ACBD4_ENST00000321854.8_Silent_p.V20V|ACBD4_ENST00000586346.1_Silent_p.V20V|ACBD4_ENST00000398322.3_Silent_p.V20V|ACBD4_ENST00000592162.1_Silent_p.V20V|ACBD4_ENST00000591859.1_Silent_p.V20V|ACBD4_ENST00000431281.1_Silent_p.V20V|ACBD4_ENST00000591136.1_3'UTR	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	20	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						AGGCTGCAGTGAGCGTCATCC	0.592																																																	0													30	37	34					17																	43213571		2061	4194	6255	SO:0001819	synonymous_variant	79777			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 4"				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.60G>A	17.37:g.43213571G>A			D3DX64|Q8IUT1|Q9H8Q4	Silent	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.V20	ENST00000376955.4	37	c.60	CCDS45711.1	17																																																																																			ACBD4	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein		0.592	ACBD4-006	KNOWN	basic|CCDS	protein_coding	ACBD4	HGNC	protein_coding	OTTHUMT00000449816.1	G	NM_024722		43213571	1	no_errors	ENST00000431281	ensembl	human	known	70_37	silent	SNP	0.803	A	A	43213571	G	A	43213571	2	1	185	1	0	0	0	0	0	0	0	1	124	1277	45	1		1	ACBD4	17	43213571	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	20968	43213571	37981639	1321	35596										
PLEKHM1	9842	genome.wustl.edu	37	chr17	43516962	43516962	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctgggaggcaaattcaatCagggccttgaggaatccttc	12	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:43516962C>G	ENST00000430334.3	-	11	3073	c.2940G>C	c.(2938-2940)ctG>ctC	p.L980L	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.L891L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	980					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CAAATTCAATCAGGGCCTTGA	0.567																																																	0													118	90	99					17																	43516962		2203	4300	6503	SO:0001819	synonymous_variant	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2940G>C	17.37:g.43516962C>G			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L980	ENST00000430334.3	37	c.2940	CCDS32671.1	17																																																																																			PLEKHM1	-	NULL		0.567	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	C	NM_014798		43516962	-1	no_errors	ENST00000430334	ensembl	human	known	70_37	silent	SNP	0.986	G	G	43516962	C	G	43516962	2	3	185	1	0	0	0	0	0	0	0	1	12104	813	29	1		1	PLEKHM1	17	43516962	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	303391	43516962	37678248	1322	35597										
CDK5RAP3	80279	genome.wustl.edu	37	chr17	46054077	46054077	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acactctctttccctttccaGattgactggggcgactttgg	9	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:46054077G>A	ENST00000338399.4	+	9	904		c.e9-1		CDK5RAP3_ENST00000536708.2_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TCCCTTTCCAGATTGACTGGG	0.552																																																	0													71	68	69					17																	46054077		1912	4119	6031	SO:0001630	splice_region_variant	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.799-1G>A	17.37:g.46054077G>A			B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	-	e9-1	ENST00000338399.4	37	c.799-1	CCDS42356.1	17	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260030	0.59321	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3575	0.90362	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43409076	1.000000	0.71417	0.996000	0.52242	0.611000	0.37282	8.363000	0.90103	2.626000	0.88956	0.655000	0.94253	.	CDK5RAP3	-	-		0.552	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	G	NM_176096	Intron	46054077	1	no_errors	ENST00000338399	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	46054077	G	A	46054077	5	1	185	1	0	0	0	0	0	0	1	0	3152	956	33	1	832	1	CDK5RAP3	17	46054077	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2537115	46054077	35141133	1323	35598										
SLC35B1	10237	genome.wustl.edu	37	chr17	47781577	47781577	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagtcagtccatccagggtCagcgataatagctgggaaag	12	10	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:47781577C>T	ENST00000240333.6	-	6	661	c.540G>A	c.(538-540)ctG>ctA	p.L180L	SLC35B1_ENST00000415270.2_Silent_p.L217L			P78383	S35B1_HUMAN	solute carrier family 35, member B1	180					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CATCCAGGGTCAGCGATAATA	0.532																																																	0													143	126	132					17																	47781577		2203	4300	6503	SO:0001819	synonymous_variant	10237			D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.540G>A	17.37:g.47781577C>T			B4DEC4|J3KQV4|Q96EW7	Silent	SNP	pfam_UAA,pfam_DMT,pfam_DUF250	p.L217	ENST00000240333.6	37	c.651	CCDS11552.1	17																																																																																			SLC35B1	-	pfam_UAA		0.532	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B1	HGNC	protein_coding	OTTHUMT00000365564.2	C	NM_005827		47781577	-1	no_errors	ENST00000415270	ensembl	human	known	70_37	silent	SNP	1.000	T	T	47781577	C	T	47781577	2	4	185	1	0	0	0	0	0	0	0	1	14605	813	29	1		1	SLC35B1	17	47781577	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1727500	47781577	33413633	1324	35599										
FAM117A	81558	genome.wustl.edu	37	chr17	47797793	47797793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcagttgttgcttcaacttGgaaatctagcagcccagaga	10	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:47797793G>A	ENST00000240364.2	-	4	547	c.468C>T	c.(466-468)tcC>tcT	p.S156S	FAM117A_ENST00000513602.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	156										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GCTTCAACTTGGAAATCTAGC	0.567																																																	0													69	63	65					17																	47797793		2203	4300	6503	SO:0001819	synonymous_variant	81558			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.468C>T	17.37:g.47797793G>A			B7Z7Q3	Silent	SNP	NULL	p.S156	ENST00000240364.2	37	c.468	CCDS11553.1	17																																																																																			FAM117A	-	NULL		0.567	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	G	NM_030802		47797793	-1	no_errors	ENST00000240364	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47797793	G	A	47797793	2	1	185	1	0	0	0	0	0	0	0	1	5424	1335	47	4		4	FAM117A	17	47797793	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	16216	47797793	33397417	1325	35600										
PPP1R9B	84687	genome.wustl.edu	37	chr17	48221036	48221036	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagcttctccaggcccatgtCtgccccggcgcccatgccga	10	19	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:48221036C>G	ENST00000316878.6	-	5	1548	c.1546G>C	c.(1546-1548)Gac>Cac	p.D516H	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	516	Interacts with RGS2. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGGCCCATGTCTGCCCCGGCG	0.627																																																	0													77	87	84					17																	48221036		2104	4216	6320	SO:0001583	missense	84687			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9298	protein-coding gene	gene with protein product	"spinophilin", "Neurabin-2"	603325	"protein phosphatase 1, regulatory subunit 9B, spinophilin", "protein phosphatase 1, regulatory (inhibitor) subunit 9B"	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1546G>C	17.37:g.48221036C>G	ENSP00000475417:p.Asp516His		Q8TCR9	RNA	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			PPP1R9B	-	-		0.627	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		C	NM_032595		48221036	-1	no_errors	ENST00000316878	ensembl	human	known	70_37	rna	SNP	1.000	G	G	48221036	C	G	48221036	3	3	185	1	0	0	0	0	1	0	0	0	12406	913	32	1	933	1	PPP1R9B	17	48221036	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	423243	48221036	32974174	1326	35601										
SPATA20	64847	genome.wustl.edu	37	chr17	48625789	48625789	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaagtcaccatacctcctaCaacatgcctacaatcctgtg	5	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:48625789C>T	ENST00000356488.4	+	2	306	c.223C>T	c.(223-225)Caa>Taa	p.Q75*	SPATA20_ENST00000393244.3_Nonsense_Mutation_p.Q31*|SPATA20_ENST00000006658.6_Nonsense_Mutation_p.Q91*|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	75					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ATACCTCCTACAACATGCCTA	0.612																																																	0													126	111	116					17																	48625789		2203	4300	6503	SO:0001587	stop_gained	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.223C>T	17.37:g.48625789C>T	ENSP00000348878:p.Gln75*		Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Nonsense_Mutation	SNP	pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold	p.Q91*	ENST00000356488.4	37	c.271	CCDS58563.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.975736	0.97162	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.3934	17.892	0.88875	0.0:1.0:0.0:0.0	.	.	.	.	X	91;75;31	.	ENSP00000006658:Q91X	Q	+	1	0	SPATA20	45980788	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	7.259000	0.78381	2.456000	0.83038	0.561000	0.74099	CAA	SPATA20	-	pfam_DUF255,superfamily_Thioredoxin-like_fold		0.612	SPATA20-004	KNOWN	basic|CCDS	protein_coding	SPATA20	HGNC	protein_coding	OTTHUMT00000367651.1	C	NM_022827		48625789	1	no_errors	ENST00000006658	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	48625789	C	T	48625789	4	4	185	1	0	0	0	0	0	1	0	0	15036	479	17	4	281	4	SPATA20	17	48625789	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	404753	48625789	32569421	1327	35602										
ABCC3	8714	genome.wustl.edu	37	chr17	48746594	48746594	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgtctgccctgctgggagaGatggagaagctagaaggcaa	16	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:48746594G>A	ENST00000285238.8	+	16	2111	c.2031G>A	c.(2029-2031)gaG>gaA	p.E677E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	677	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGCTGGGAGAGATGGAGAAGC	0.652																																																	0													55	62	59					17																	48746594		2203	4300	6503	SO:0001819	synonymous_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2031G>A	17.37:g.48746594G>A			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.E677	ENST00000285238.8	37	c.2031	CCDS32681.1	17																																																																																			ABCC3	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.652	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	G	NM_020038		48746594	1	no_errors	ENST00000285238	ensembl	human	known	70_37	silent	SNP	1.000	A	A	48746594	G	A	48746594	2	1	185	1	0	0	0	0	0	0	0	1	54	933	33	1		1	ABCC3	17	48746594	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	120805	48746594	32448616	1328	35603										
MBTD1	54799	genome.wustl.edu	37	chr17	49279025	49279025	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccaatttcattccttccttGaaccattccccactctggtc	3	16	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:49279025G>A	ENST00000586178.1	-	12	1495	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	MBTD1_ENST00000415868.1_Silent_p.F384F|MBTD1_ENST00000376381.2_Silent_p.F384F	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	384					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTCCTTCCTTGAACCATTCCC	0.299																																																	0													164	172	169					17																	49279025		2203	4297	6500	SO:0001819	synonymous_variant	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1152C>T	17.37:g.49279025G>A			Q6ZVU7|Q9NXU1	Silent	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.F384	ENST00000586178.1	37	c.1152	CCDS11581.2	17																																																																																			MBTD1	-	smart_Mbt,pfscan_Mbt		0.299	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	G			49279025	-1	no_errors	ENST00000415868	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49279025	G	A	49279025	2	1	185	1	0	0	0	0	0	0	0	1	9383	1281	45	1		1	MBTD1	17	49279025	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	532431	49279025	31916185	1329	35604										
COIL	8161	genome.wustl.edu	37	chr17	55027347	55027347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacaggaaacaggatgccctCgtcctcgacctctcccccgc	8	19	1	0	rs138873632	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:55027347C>T	ENST00000240316.4	-	2	1290	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	419	2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G.|Required for interaction with SMN.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					AGGATGCCCTCGTCCTCGACC	0.473																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	84	89	87		1256	5	1	17	dbSNP_134	87	5,8595	4.3+/-15.6	0,5,4295	no	missense	COIL	NM_004645.2	43	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging	419/577	55027347	6,13000	2203	4300	6503	SO:0001583	missense	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1256G>A	17.37:g.55027347C>T	ENSP00000240316:p.Arg419Gln		B2R931	Missense_Mutation	SNP	NULL	p.R419Q	ENST00000240316.4	37	c.1256	CCDS11592.1	17	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644885	0.67358	2.27E-4	5.81E-4	ENSG00000121058	ENST00000240316	.	.	.	5.95	4.97	0.65823	.	0.242908	0.39759	N	0.001266	T	0.76428	0.3986	M	0.71581	2.175	0.40417	D	0.979807	D	0.89917	1.0	D	0.70487	0.969	T	0.78597	-0.2142	9	0.66056	D	0.02	-9.3764	13.7535	0.62921	0.0:0.9281:0.0:0.0719	.	419	P38432	COIL_HUMAN	Q	419	.	ENSP00000240316:R419Q	R	-	2	0	COIL	52382346	0.944000	0.32072	0.997000	0.53966	0.172000	0.22775	2.967000	0.49216	2.817000	0.96982	0.563000	0.77884	CGA	COIL	-	NULL		0.473	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	C			55027347	-1	no_errors	ENST00000240316	ensembl	human	known	70_37	missense	SNP	0.983	T	T	55027347	C	T	55027347	3	4	185	1	0	0	0	0	1	0	0	0	3670	884	31	1	498	1	COIL	17	55027347	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5748322	55027347	26167863	1330	35605										
EPX	8288	genome.wustl.edu	37	chr17	56276955	56276955	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggcaaggcccgggccaggaGaaccctggggcactacaggg	18	12	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:56276955G>C	ENST00000225371.5	+	9	1447	c.1337G>C	c.(1336-1338)aGa>aCa	p.R446T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	446					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CGGGCCAGGAGAACCCTGGGG	0.612																																																	0													91	83	86					17																	56276955		2203	4300	6503	SO:0001583	missense	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1337G>C	17.37:g.56276955G>C	ENSP00000225371:p.Arg446Thr		Q4TVP3	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R446T	ENST00000225371.5	37	c.1337	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299703	0.40694	.	.	ENSG00000121053	ENST00000225371	T	0.68331	-0.32	5.81	1.39	0.22231	.	0.435373	0.29073	N	0.013226	T	0.52256	0.1723	L	0.33293	1	0.20074	N	0.999934	B	0.12013	0.005	B	0.17979	0.02	T	0.47983	-0.9074	10	0.51188	T	0.08	-1.9173	9.9494	0.41630	0.2789:0.0:0.7211:0.0	.	446	P11678	PERE_HUMAN	T	446	ENSP00000225371:R446T	ENSP00000225371:R446T	R	+	2	0	EPX	53631954	0.000000	0.05858	0.452000	0.26994	0.979000	0.70002	-0.322000	0.08007	0.324000	0.23333	0.655000	0.94253	AGA	EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	G	NM_000502		56276955	1	no_errors	ENST00000225371	ensembl	human	known	70_37	missense	SNP	0.155	C	C	56276955	G	C	56276955	3	2	185	1	0	0	0	0	1	0	0	0	5212	942	33	1	1371	1	EPX	17	56276955	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1249608	56276955	24918255	1331	35606										
SUPT4H1	6827	genome.wustl.edu	37	chr17	56429476	56429476	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgcagatgccgcaggtccttCggcaccgtctccagggccat	12	16	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:56429476C>T	ENST00000225504.3	-	1	87	c.21G>A	c.(19-21)ccG>ccA	p.P7P	BZRAP1-AS1_ENST00000583841.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|SUPT4H1_ENST00000577396.1_5'UTR|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|SUPT4H1_ENST00000580947.1_Silent_p.P7P|BZRAP1-AS1_ENST00000579859.1_RNA|SUPT4H1_ENST00000581540.1_5'Flank|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	7	Interaction with SUPT5H.				chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGTCCTTCGGCACCGTCT	0.607																																					NSCLC(25;723 896 19867 29219 40028)												0													52	46	48					17																	56429476		2203	4300	6503	SO:0001819	synonymous_variant	6827			U38817	CCDS11606.1	17q22	2014-06-23	2001-11-28		ENSG00000213246	ENSG00000213246			11467	protein-coding gene	gene with protein product		603555	"suppressor of Ty (S.cerevisiae) 4 homolog 1"	SUPT4H		8786137	Standard	NM_003168		Approved	SPT4H	uc002iwe.2	P63272	OTTHUMG00000178926	ENST00000225504.3:c.21G>A	17.37:g.56429476C>T			B2R4X8|D3DTZ4|Q16550|Q62387|Q6ZP89	Silent	SNP	pfam_Spt4/RpoE2_Znf,pirsf_Spt4	p.P7	ENST00000225504.3	37	c.21	CCDS11606.1	17																																																																																			SUPT4H1	-	pirsf_Spt4		0.607	SUPT4H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT4H1	HGNC	protein_coding	OTTHUMT00000444000.1	C	NM_003168		56429476	-1	no_errors	ENST00000225504	ensembl	human	known	70_37	silent	SNP	0.939	T	T	56429476	C	T	56429476	2	4	185	1	0	0	0	0	0	0	0	1	15428	871	31	1		1	SUPT4H1	17	56429476	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	152521	56429476	24765734	1332	35607										
BRIP1	83990	genome.wustl.edu	37	chr17	59821859	59821859	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcatcaaaatttgttttttCtcctccctgtggttctacaa	4	10	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:59821859C>G	ENST00000259008.2	-	15	2458	c.2191G>C	c.(2191-2193)Gaa>Caa	p.E731Q	BRIP1_ENST00000577598.1_Missense_Mutation_p.E731Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	731					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTGTTTTTTCTCCTCCCTGT	0.353			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													163	163	163					17																	59821859		2203	4300	6503	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2191G>C	17.37:g.59821859C>G	ENSP00000259008:p.Glu731Gln		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.E731Q	ENST00000259008.2	37	c.2191	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708521	0.48517	.	.	ENSG00000136492	ENST00000259008	T	0.78364	-1.17	5.67	5.67	0.87782	Helicase, ATP-dependent, c2 type (1);	0.321339	0.33110	N	0.005275	T	0.75273	0.3827	N	0.17838	0.53	0.39764	D	0.972067	P;D	0.54397	0.849;0.966	P;P	0.52856	0.479;0.711	T	0.74515	-0.3640	9	.	.	.	-9.1081	18.7509	0.91814	0.0:1.0:0.0:0.0	.	731;731	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	Q	731	ENSP00000259008:E731Q	.	E	-	1	0	BRIP1	57176641	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.300000	0.78841	2.661000	0.90470	0.460000	0.39030	GAA	BRIP1	-	smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3		0.353	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	C	NM_032043		59821859	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	missense	SNP	1.000	G	G	59821859	C	G	59821859	3	3	185	1	0	0	0	0	1	0	0	0	1517	922	32	1	1582	1	BRIP1	17	59821859	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3392383	59821859	21373351	1333	35608										
TLK2	11011	genome.wustl.edu	37	chr17	60679417	60679417	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttttaggtaatattcttttaGtaaatggtacagcgtgtgga	10	3	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:60679417G>C	ENST00000326270.9	+	20	2069	c.1801G>C	c.(1801-1803)Gta>Cta	p.V601L	TLK2_ENST00000346027.5_Missense_Mutation_p.V579L|TLK2_ENST00000542523.1_Missense_Mutation_p.V547L|TLK2_ENST00000582809.1_Missense_Mutation_p.V430L|TLK2_ENST00000343388.7_Missense_Mutation_p.V547L	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TATTCTTTTAGTAAATGGTAC	0.343																																																	0													67	68	68					17																	60679417		2203	4300	6503	SO:0001583	missense	11011			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1801G>C	17.37:g.60679417G>C	ENSP00000316512:p.Val601Leu		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V601L	ENST00000326270.9	37	c.1801		17	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993325	0.54041	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	N	0.17800	0.525	0.80722	D	1	D;P;P;B	0.76494	0.999;0.845;0.605;0.153	D;P;P;B	0.73708	0.981;0.503;0.503;0.18	T	0.04041	-1.0982	10	0.35671	T	0.21	.	18.996	0.92813	0.0:0.0:1.0:0.0	.	601;547;579;579	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	L	579;547;601;547	ENSP00000275780:V579L;ENSP00000340800:V547L;ENSP00000316512:V601L;ENSP00000442311:V547L	ENSP00000316512:V601L	V	+	1	0	TLK2	58033149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.726000	0.93360	0.561000	0.74099	GTA	TLK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.343	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	G	NM_006852		60679417	1	no_errors	ENST00000326270	ensembl	human	known	70_37	missense	SNP	1.000	C	C	60679417	G	C	60679417	3	2	185	1	0	0	0	0	1	0	0	0	15974	1029	36	4	1805	4	TLK2	17	60679417	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	857558	60679417	20515793	1334	35609										
MARCH10	162333	genome.wustl.edu	37	chr17	60813357	60813357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggtttccttttcatctgtGaaaccagaggctgccatcct	8	12	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:60813357G>A	ENST00000311269.5	-	6	2146	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	MARCH10_ENST00000456609.2_Silent_p.F624F|MARCH10_ENST00000583600.1_Silent_p.F662F|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Silent_p.F623F|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	624					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F624F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTTCATCTGTGAAACCAGAGG	0.383																																																	1	Substitution - coding silent(1)	lung(1)											86	89	88					17																	60813357		2203	4300	6503	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1872C>T	17.37:g.60813357G>A			D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.F624	ENST00000311269.5	37	c.1872	CCDS11635.1	17																																																																																			MARCH10	-	NULL		0.383	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	G	NM_152598		60813357	-1	no_errors	ENST00000311269	ensembl	human	known	70_37	silent	SNP	0.000	A	A	60813357	G	A	60813357	2	1	185	1	0	0	0	0	0	0	0	1	9322	1281	45	1		1	MARCH10	17	60813357	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	133940	60813357	20381853	1335	35610										
TANC2	26115	genome.wustl.edu	37	chr17	61315253	61315253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taaagaattaggatctggagGaaacataaaaccttggcagt	10	5	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:61315253G>A	ENST00000424789.2	+	6	630	c.626G>A	c.(625-627)gGa>gAa	p.G209E	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.G209E	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	209					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGATCTGGAGGAAACATAAAA	0.373																																																	0													44	42	42					17																	61315253		1825	4098	5923	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.626G>A	17.37:g.61315253G>A	ENSP00000387593:p.Gly209Glu		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G209E	ENST00000424789.2	37	c.626	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827545	0.90955	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.55588	0.51;0.51	6.06	6.06	0.98353	.	.	.	.	.	T	0.68165	0.2971	L	0.53249	1.67	0.80722	D	1	D;D	0.62365	0.991;0.985	D;P	0.64237	0.923;0.84	T	0.60398	-0.7271	9	0.31617	T	0.26	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	209;209	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	E	209	ENSP00000374171:G209E;ENSP00000387593:G209E	ENSP00000374171:G209E	G	+	2	0	TANC2	58668985	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	GGA	TANC2	-	NULL		0.373	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61315253	1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61315253	G	A	61315253	3	1	185	1	0	0	0	0	1	0	0	0	15575	1174	41	1	648	1	TANC2	17	61315253	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	501896	61315253	19879957	1336	35611										
ACE	1636	genome.wustl.edu	37	chr17	61557756	61557756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aactcccccaccttcgaggaCgatctggaacacctctacca	6	17	2	0	rs556856171		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:61557756C>T	ENST00000290866.4	+	5	738	c.714C>T	c.(712-714)gaC>gaT	p.D238D	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.D238D|ACE_ENST00000538928.1_Silent_p.D238D	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	238	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.D238D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTTCGAGGACGATCTGGAAC	0.607													C|||	1	0.000199681	0	0.0014	5008	,	,		17221	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	endometrium(1)											156	129	138					17																	61557756		2203	4300	6503	SO:0001819	synonymous_variant	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.714C>T	17.37:g.61557756C>T			B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.D238	ENST00000290866.4	37	c.714	CCDS11637.1	17																																																																																			ACE	-	pfam_Peptidase_M2		0.607	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	C			61557756	1	no_errors	ENST00000290866	ensembl	human	known	70_37	silent	SNP	0.987	T	T	61557756	C	T	61557756	2	4	185	1	0	0	0	0	0	0	0	1	136	535	19	2		2	ACE	17	61557756	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	242503	61557756	19637454	1337	35612										
CCDC46	201134	genome.wustl.edu	37	chr17	64025251	64025251	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taaataataccttagaagctGaaagagcatgttcttgtttt	7	5	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:64025251G>A	ENST00000392769.2	-	14	1711	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L	CEP112_ENST00000535342.2_Missense_Mutation_p.S498L|CEP112_ENST00000541355.1_Missense_Mutation_p.S133L|CEP112_ENST00000537949.1_Missense_Mutation_p.S456L	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	498					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTTAGAAGCTGAAAGAGCATG	0.313																																																	0													162	158	159					17																	64025251		2201	4294	6495	SO:0001583	missense	201134			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1493C>T	17.37:g.64025251G>A	ENSP00000376522:p.Ser498Leu		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.S498L	ENST00000392769.2	37	c.1493	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174795	0.38413	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.55	4.52	0.55395	.	0.306971	0.31221	N	0.008021	T	0.22859	0.0552	L	0.50333	1.59	0.18873	N	0.999982	P;B;P	0.41848	0.763;0.328;0.763	B;B;B	0.39660	0.306;0.053;0.306	T	0.13764	-1.0497	10	0.25106	T	0.35	-2.4076	10.9706	0.47436	0.0:0.139:0.7171:0.1439	.	456;456;498	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	L	498;498;133;456	ENSP00000442784:S498L;ENSP00000376522:S498L;ENSP00000443711:S133L;ENSP00000440775:S456L	ENSP00000376522:S498L	S	-	2	0	CEP112	61455713	1.000000	0.71417	0.975000	0.42487	0.907000	0.53573	4.363000	0.59473	2.768000	0.95171	0.655000	0.94253	TCA	CEP112	-	NULL		0.313	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	G	NM_145036		64025251	-1	no_errors	ENST00000392769	ensembl	human	known	70_37	missense	SNP	0.311	A	A	64025251	G	A	64025251	3	1	185	1	0	0	0	0	1	0	0	0	2822	1294	45	1	1596	1	CCDC46	17	64025251	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2467495	64025251	17169959	1338	35613										
BPTF	2186	genome.wustl.edu	37	chr17	65908690	65908690	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagtaatgactttattgatGaaaatggtctgcccatcaac	7	8	3	3	rs35770209		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:65908690G>A	ENST00000321892.4	+	13	5129	c.5068G>A	c.(5068-5070)Gaa>Aaa	p.E1690K	BPTF_ENST00000424123.3_Missense_Mutation_p.E1551K|BPTF_ENST00000335221.5_Missense_Mutation_p.E1690K|BPTF_ENST00000306378.6_Missense_Mutation_p.E1564K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1690					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTTATTGATGAAAATGGTCT	0.373																																																	0													74	80	78					17																	65908690		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5068G>A	17.37:g.65908690G>A	ENSP00000315454:p.Glu1690Lys		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1690K	ENST00000321892.4	37	c.5068		17	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778592	0.31502	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62498	0.02;0.03;0.02	5.47	4.42	0.53409	.	.	.	.	.	T	0.43545	0.1252	N	0.08118	0	0.24763	N	0.992913	P;B	0.34615	0.459;0.4	B;B	0.33960	0.16;0.173	T	0.42749	-0.9433	9	0.62326	D	0.03	.	12.9655	0.58481	0.0:0.3815:0.6185:0.0	.	1564;1690	Q12830-2;Q12830-4	.;.	K	1564;1690;1690	ENSP00000307208:E1564K;ENSP00000334351:E1690K;ENSP00000315454:E1690K	ENSP00000307208:E1564K	E	+	1	0	BPTF	63339152	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.157000	0.58144	2.728000	0.93425	0.650000	0.86243	GAA	BPTF	-	NULL		0.373	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		G	NM_182641, NM_004459		65908690	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65908690	G	A	65908690	3	1	185	1	0	0	0	0	1	0	0	0	1498	1291	45	1	5118	1	BPTF	17	65908690	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1883439	65908690	15286520	1339	35614										
FAM20A	54757	genome.wustl.edu	37	chr17	66551867	66551867	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggtaaggttcatctgctctCtgtacatcttgtgtcgcctg	10	10	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:66551867C>G	ENST00000592554.1	-	2	1144	c.422G>C	c.(421-423)aGa>aCa	p.R141T	FAM20A_ENST00000226094.5_5'UTR|RP11-120M18.5_ENST00000589826.1_lincRNA	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	141					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CATCTGCTCTCTGTACATCTT	0.507																																																	0													75	64	67					17																	66551867		2203	4300	6503	SO:0001583	missense	54757			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.422G>C	17.37:g.66551867C>G	ENSP00000468308:p.Arg141Thr		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	pfam_DUF1193	p.R141T	ENST00000592554.1	37	c.422	CCDS11679.1	17	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836303	0.32421	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.84	-7.58	0.01313	.	0.654614	0.15285	N	0.270456	T	0.31071	0.0785	L	0.33485	1.01	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.16129	-1.0413	9	0.16896	T	0.51	-1.2548	17.5839	0.87976	0.0:0.8321:0.0:0.1679	.	141	Q96MK3	FA20A_HUMAN	T	141	.	ENSP00000226094:R141T	R	-	2	0	FAM20A	64063462	0.000000	0.05858	0.245000	0.24217	0.968000	0.65278	-0.896000	0.04114	-1.221000	0.02591	-0.258000	0.10820	AGA	FAM20A	-	NULL		0.507	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2	C	NM_017565		66551867	-1	no_errors	ENST00000592554	ensembl	human	known	70_37	missense	SNP	0.102	G	G	66551867	C	G	66551867	3	3	185	1	0	0	0	0	1	0	0	0	5552	913	32	1	1243	1	FAM20A	17	66551867	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	643177	66551867	14643343	1340	35615										
ABCA5	23461	genome.wustl.edu	37	chr17	67246763	67246763	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttgtactgttccgatacatCtgaagtaattttttaaaaga	7	5	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:67246763C>G	ENST00000392676.3	-	36	4600		c.e36-1		ABCA5_ENST00000588877.1_Splice_Site|ABCA5_ENST00000392677.2_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCCGATACATCTGAAGTAATT	0.289																																																	0													30	30	30					17																	67246763		2198	4291	6489	SO:0001630	splice_region_variant	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4536-1G>C	17.37:g.67246763C>G			Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	-	e35-1	ENST00000392676.3	37	c.4539-1	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635954	0.87760	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA5	64758358	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.636000	0.74299	2.885000	0.99019	0.655000	0.94253	.	ABCA5	-	-		0.289	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	C	NM_018672	Intron	67246763	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	splice_site	SNP	1.000	G	G	67246763	C	G	67246763	5	3	185	1	0	0	0	0	0	0	1	0	35	927	32	1	409	1	ABCA5	17	67246763	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	694896	67246763	13948447	1341	35616										
KIF19	124602	genome.wustl.edu	37	chr17	72338795	72338795	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgtatcaggccaccaccaaGagcctcatcgagggcgtcat	11	13	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:72338795G>C	ENST00000389916.4	+	4	396	c.258G>C	c.(256-258)aaG>aaC	p.K86N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	86	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCACCACCAAGAGCCTCATCG	0.617																																																	0													135	109	118					17																	72338795		2203	4300	6503	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.258G>C	17.37:g.72338795G>C	ENSP00000374566:p.Lys86Asn		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K86N	ENST00000389916.4	37	c.258	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805050	0.70682	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.76060	-0.77;-0.99	5.36	4.39	0.52855	Kinesin, motor domain (4);	.	.	.	.	T	0.78387	0.4275	M	0.62016	1.91	0.38578	D	0.9501	P;D;B;B	0.56035	0.902;0.974;0.09;0.09	P;P;B;B	0.56916	0.643;0.809;0.124;0.124	T	0.80118	-0.1516	9	0.62326	D	0.03	.	6.9592	0.24587	0.2973:0.0:0.7027:0.0	.	86;86;86;86	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	N	86	ENSP00000449134:K86N;ENSP00000374566:K86N	ENSP00000374566:K86N	K	+	3	2	KIF19	69850390	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	0.656000	0.24948	1.283000	0.44513	0.456000	0.33151	AAG	KIF19	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.617	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	G	NM_153209		72338795	1	no_errors	ENST00000389916	ensembl	human	known	70_37	missense	SNP	1.000	C	C	72338795	G	C	72338795	3	2	185	1	0	0	0	0	1	0	0	0	8302	933	33	1	272	1	KIF19	17	72338795	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5092032	72338795	8856415	1342	35617										
OTOP2	92736	genome.wustl.edu	37	chr17	72926924	72926924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcgggcacaccccaggacctGctggcagggctcaacctcac	12	17	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:72926924G>A	ENST00000580223.1	+	5	1224	c.1194G>A	c.(1192-1194)ctG>ctA	p.L398L	OTOP2_ENST00000331427.4_Silent_p.L398L			Q7RTS6	OTOP2_HUMAN	otopetrin 2	398						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAGGACCTGCTGGCAGGGC	0.627																																																	0													77	63	68					17																	72926924		2203	4300	6503	SO:0001819	synonymous_variant	92736			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1194G>A	17.37:g.72926924G>A				Silent	SNP	pfam_Otopetrin	p.L398	ENST00000580223.1	37	c.1194	CCDS11708.1	17																																																																																			OTOP2	-	pfam_Otopetrin		0.627	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1	G	NM_178160		72926924	1	no_errors	ENST00000331427	ensembl	human	known	70_37	silent	SNP	0.602	A	A	72926924	G	A	72926924	2	1	185	1	0	0	0	0	0	0	0	1	11330	1306	46	4		4	OTOP2	17	72926924	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	588129	72926924	8268286	1343	35618										
GGA3	23163	genome.wustl.edu	37	chr17	73236973	73236973	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggtggcctcggcctggctaGaggagcggctccgtggaggt	20	10	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73236973G>C	ENST00000245541.6	-	11	1328	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	GGA3_ENST00000578348.1_Missense_Mutation_p.S249C|GGA3_ENST00000582486.1_Missense_Mutation_p.S299C|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582717.1_Missense_Mutation_p.S299C|GGA3_ENST00000351904.7_Missense_Mutation_p.S338C|GGA3_ENST00000538886.1_Missense_Mutation_p.S249C	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	371	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGCCTGGCTAGAGGAGCGGCT	0.682											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49	46	47					17																	73236973		2203	4300	6503	SO:0001583	missense	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1112C>G	17.37:g.73236973G>C	ENSP00000245541:p.Ser371Cys	1143	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.S371C	ENST00000245541.6	37	c.1112	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	G	4.793	0.147525	0.09134	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.51071	1.98;0.72	5.7	4.72	0.59763	.	0.552404	0.20964	N	0.082511	T	0.59335	0.2186	L	0.55481	1.735	0.36413	D	0.863879	B;D;D	0.71674	0.014;0.998;0.993	B;P;P	0.61592	0.007;0.891;0.72	T	0.68168	-0.5480	10	0.62326	D	0.03	-20.6138	11.7463	0.51821	0.068:0.1244:0.8076:0.0	.	249;338;371	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	C	371;338;299;249	ENSP00000245541:S371C;ENSP00000326575:S338C	ENSP00000245541:S371C	S	-	2	0	GGA3	70748568	0.997000	0.39634	0.878000	0.34440	0.028000	0.11728	2.601000	0.46249	1.377000	0.46286	0.655000	0.94253	TCT	GGA3	-	NULL		0.682	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	G	NM_138619		73236973	-1	no_errors	ENST00000245541	ensembl	human	known	70_37	missense	SNP	0.453	C	C	73236973	G	C	73236973	3	2	185	1	0	0	0	0	1	0	0	0	6373	942	33	1	1175	1	GGA3	17	73236973	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	310049	73236973	7958237	1344	35619										
TSEN54	283989	genome.wustl.edu	37	chr17	73517555	73517555	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgtgcagcacttggaggatgGagatggcaagagaaagagga	17	5	0	3	rs377382148		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73517555G>C	ENST00000333213.6	+	7	623	c.587G>C	c.(586-588)gGa>gCa	p.G196A		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	196					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGAGGATGGAGATGGCAAG	0.607																																																	0													104	95	98					17																	73517555		2203	4300	6503	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.587G>C	17.37:g.73517555G>C	ENSP00000327487:p.Gly196Ala		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	NULL	p.G196A	ENST00000333213.6	37	c.587	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145673	0.06627	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.55234	0.53	5.51	-2.47	0.06442	.	1.257390	0.05135	N	0.493185	T	0.39118	0.1066	L	0.29908	0.895	0.09310	N	1	B	0.20887	0.049	B	0.22386	0.039	T	0.27905	-1.0060	10	0.14656	T	0.56	0.0137	11.4097	0.49919	0.5967:0.0:0.4033:0.0	.	196	Q7Z6J9	SEN54_HUMAN	A	95;196	ENSP00000327487:G196A	ENSP00000327487:G196A	G	+	2	0	TSEN54	71029150	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.166000	0.16583	-0.427000	0.07350	-0.140000	0.14226	GGA	TSEN54	-	NULL		0.607	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	G	NM_207346		73517555	1	no_errors	ENST00000333213	ensembl	human	known	70_37	missense	SNP	0.000	C	C	73517555	G	C	73517555	3	2	185	1	0	0	0	0	1	0	0	0	16645	1174	41	1	613	1	TSEN54	17	73517555	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	280582	73517555	7677655	1345	35620										
LLGL2	3993	genome.wustl.edu	37	chr17	73560506	73560506	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgccactgcatctcagtgatCcacgatggccagcagacggc	11	15	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73560506C>G	ENST00000392550.3	+	10	1071	c.954C>G	c.(952-954)atC>atG	p.I318M	LLGL2_ENST00000577200.1_Missense_Mutation_p.I318M|LLGL2_ENST00000578363.1_Missense_Mutation_p.I318M|LLGL2_ENST00000167462.5_Missense_Mutation_p.I318M|LLGL2_ENST00000375227.4_Missense_Mutation_p.I318M	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	318					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTCAGTGATCCACGATGGCC	0.637																																																	0													66	60	62					17																	73560506		2203	4300	6503	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.954C>G	17.37:g.73560506C>G	ENSP00000376333:p.Ile318Met		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.I318M	ENST00000392550.3	37	c.954	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	C	9.955	1.221190	0.22457	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.28666	3.61;3.73;1.6	5.12	3.06	0.35304	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.575162	0.20018	N	0.100965	T	0.19167	0.0460	N	0.15975	0.35	0.29337	N	0.866306	P;P;B;B;B	0.40211	0.707;0.659;0.003;0.013;0.013	P;P;B;B;B	0.49922	0.626;0.492;0.016;0.043;0.061	T	0.24048	-1.0171	10	0.02654	T	1	-16.7732	4.2108	0.10510	0.1375:0.5966:0.1339:0.132	.	307;307;318;318;318	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	M	318;318;318;307	ENSP00000167462:I318M;ENSP00000376333:I318M;ENSP00000364375:I318M	ENSP00000167462:I318M	I	+	3	3	LLGL2	71072101	0.004000	0.15560	0.102000	0.21198	0.886000	0.51366	-0.079000	0.11357	1.258000	0.44101	0.561000	0.74099	ATC	LLGL2	-	pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant		0.637	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	C	NM_004524		73560506	1	no_errors	ENST00000392550	ensembl	human	known	70_37	missense	SNP	0.942	G	G	73560506	C	G	73560506	3	3	185	1	0	0	0	0	1	0	0	0	8855	845	30	1	988	1	LLGL2	17	73560506	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	42951	73560506	7634704	1346	35621										
ITGB4	3691	genome.wustl.edu	37	chr17	73726397	73726397	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagccttccactatgaggctGatggcgccaacgtgctggct	12	13	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73726397G>C	ENST00000200181.3	+	8	1001	c.814G>C	c.(814-816)Gat>Cat	p.D272H	ITGB4_ENST00000579662.1_Missense_Mutation_p.D272H|ITGB4_ENST00000449880.2_Missense_Mutation_p.D272H|ITGB4_ENST00000339591.3_Missense_Mutation_p.D272H|ITGB4_ENST00000450894.3_Missense_Mutation_p.D272H|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	272	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTATGAGGCTGATGGCGCCAA	0.642																																																	0													77	59	65					17																	73726397		2203	4300	6503	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.814G>C	17.37:g.73726397G>C	ENSP00000200181:p.Asp272His		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.D272H	ENST00000200181.3	37	c.814	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459240	0.26248	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.96619	-4.07;-4.07;-4.07	5.41	5.41	0.78517	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.96080	3.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99548	1.0965	10	0.87932	D	0	.	19.1991	0.93704	0.0:0.0:1.0:0.0	.	272;272;272;272	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	188;272;272;272	ENSP00000200181:D272H;ENSP00000344079:D272H;ENSP00000400217:D272H	ENSP00000200181:D272H	D	+	1	0	ITGB4	71237992	1.000000	0.71417	0.154000	0.22540	0.097000	0.18754	9.627000	0.98412	2.530000	0.85305	0.563000	0.77884	GAT	ITGB4	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu-4,prints_Integrin_bsu		0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	G			73726397	1	no_errors	ENST00000200181	ensembl	human	known	70_37	missense	SNP	0.998	C	C	73726397	G	C	73726397	3	2	185	1	0	0	0	0	1	0	0	0	7917	1290	45	1	840	1	ITGB4	17	73726397	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	165891	73726397	7468813	1347	35622										
H3F3B	3021	genome.wustl.edu	37	chr17	73774737	73774737	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttgggcatgatggtgactCtcttagcgtggatggcacac	13	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73774737C>T	ENST00000254810.4	-	4	482	c.350G>A	c.(349-351)aGa>aAa	p.R117K	H3F3B_ENST00000587560.1_Missense_Mutation_p.R117K|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000592643.1_Missense_Mutation_p.E93K|H3F3B_ENST00000589599.1_Missense_Mutation_p.R117K|H3F3B_ENST00000586607.1_Missense_Mutation_p.R117K|H3F3B_ENST00000593254.1_5'UTR	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	117					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGGTGACTCTCTTAGCGTG	0.507																																																	0													126	121	123					17																	73774737		2203	4300	6503	SO:0001583	missense	3021			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"Histones / Replication-independent"	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.350G>A	17.37:g.73774737C>T	ENSP00000254810:p.Arg117Lys		P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R117K	ENST00000254810.4	37	c.350	CCDS11729.1	17	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187851	0.57909	.	.	ENSG00000132475	ENST00000254810	T	0.63096	-0.02	5.31	5.31	0.75309	.	0.000000	0.47852	U	0.000219	D	0.90369	0.6986	H	0.99955	5.045	0.44937	D	0.997951	.	.	.	.	.	.	D	0.94896	0.8052	8	0.87932	D	0	.	19.1734	0.93590	0.0:1.0:0.0:0.0	.	.	.	.	K	117	ENSP00000254810:R117K	ENSP00000254810:R117K	R	-	2	0	H3F3B	71286332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.489000	0.81451	2.767000	0.95098	0.561000	0.74099	AGA	H3F3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.507	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	C	NM_005324		73774737	-1	no_errors	ENST00000254810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73774737	C	T	73774737	3	4	185	1	0	0	0	0	1	0	0	0	6954	913	32	1	64	1	H3F3B	17	73774737	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	48340	73774737	7420473	1348	35623										
H3F3B	3021	genome.wustl.edu	37	chr17	73774771	73774771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcacacaggttggtatcttCgaacagacccaccaggtacg	11	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73774771C>T	ENST00000254810.4	-	4	448	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	H3F3B_ENST00000587560.1_Missense_Mutation_p.E106K|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000592643.1_Silent_p.S81S|H3F3B_ENST00000589599.1_Missense_Mutation_p.E106K|H3F3B_ENST00000586607.1_Missense_Mutation_p.E106K|H3F3B_ENST00000593254.1_5'UTR	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	106					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGTATCTTCGAACAGACCC	0.582																																																	0													119	113	115					17																	73774771		2203	4300	6503	SO:0001583	missense	3021			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"Histones / Replication-independent"	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.316G>A	17.37:g.73774771C>T	ENSP00000254810:p.Glu106Lys		P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E106K	ENST00000254810.4	37	c.316	CCDS11729.1	17	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604792	0.66445	.	.	ENSG00000132475	ENST00000254810	T	0.71341	-0.56	5.31	4.35	0.52113	.	0.000000	0.64402	U	0.000019	D	0.84347	0.5452	M	0.89478	3.035	0.50813	D	0.999896	.	.	.	.	.	.	D	0.87731	0.2579	8	0.87932	D	0	.	14.1167	0.65159	0.0:0.9282:0.0:0.0718	.	.	.	.	K	106	ENSP00000254810:E106K	ENSP00000254810:E106K	E	-	1	0	H3F3B	71286366	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	7.489000	0.81451	1.482000	0.48325	-0.258000	0.10820	GAA	H3F3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.582	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	C	NM_005324		73774771	-1	no_errors	ENST00000254810	ensembl	human	known	70_37	missense	SNP	1.000	T	T	73774771	C	T	73774771	3	4	185	1	0	0	0	0	1	0	0	0	6954	893	31	1	98	1	H3F3B	17	73774771	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	34	73774771	7420439	1349	35624										
TRIM65	201292	genome.wustl.edu	37	chr17	73887309	73887309	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acattgcacctgccagagctCaaagctgccgggcccgcctg	11	16	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:73887309C>G	ENST00000269383.3	-	6	1170	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	369	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCAGAGCTCAAAGCTGCCG	0.657																																																	0													20	22	21					17																	73887309		2175	4260	6435	SO:0001583	missense	201292			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1105G>C	17.37:g.73887309C>G	ENSP00000269383:p.Glu369Gln		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E369Q	ENST00000269383.3	37	c.1105	CCDS11732.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.253|8.253	0.809539|0.809539	0.16537|0.16537	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000269383|ENST00000543309	T|.	0.73047|.	-0.71|.	5.33|5.33	-1.1|-1.1	0.09872|0.09872	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);|.	0.501749|.	0.18149|.	N|.	0.150151|.	T|T	0.18800|0.18800	0.0451|0.0451	N|N	0.11698|0.11698	0.16|0.16	0.22531|0.22531	N|N	0.999019|0.999019	B|.	0.13145|.	0.007|.	B|.	0.10450|.	0.005|.	T|T	0.31052|0.31052	-0.9957|-0.9957	10|5	0.13853|.	T|.	0.58|.	.|.	8.7241|8.7241	0.34458|0.34458	0.0978:0.4285:0.4093:0.0643|0.0978:0.4285:0.4093:0.0643	.|.	369|.	Q6PJ69|.	TRI65_HUMAN|.	Q|F	369|220	ENSP00000269383:E369Q|.	ENSP00000269383:E369Q|.	E|L	-|-	1|3	0|2	TRIM65|TRIM65	71398904|71398904	0.023000|0.023000	0.18921|0.18921	0.791000|0.791000	0.31998|0.31998	0.288000|0.288000	0.27193|0.27193	0.230000|0.230000	0.17852|0.17852	-0.004000|-0.004000	0.14419|0.14419	-0.181000|-0.181000	0.13052|0.13052	GAG|TTG	TRIM65	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin		0.657	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM65	HGNC	protein_coding	OTTHUMT00000255170.2	C	NM_173547		73887309	-1	no_errors	ENST00000269383	ensembl	human	known	70_37	missense	SNP	0.812	G	G	73887309	C	G	73887309	3	3	185	1	0	0	0	0	1	0	0	0	16570	835	29	1	452	1	TRIM65	17	73887309	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	112538	73887309	7307901	1350	35625										
ST6GALNAC1	55808	genome.wustl.edu	37	chr17	74621487	74621487	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccttcatcgtgtagccgcttCcagacttctctctccagctt	6	16	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:74621487C>T	ENST00000156626.7	-	9	1927	c.1728G>A	c.(1726-1728)tgG>tgA	p.W576*	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	576					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTAGCCGCTTCCAGACTTCTC	0.532																																																	0													75	63	67					17																	74621487		2203	4300	6503	SO:0001587	stop_gained	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1728G>A	17.37:g.74621487C>T	ENSP00000156626:p.Trp576*		Q6UW90|Q9NSC6	Nonsense_Mutation	SNP	pfam_Glyco_trans_29	p.W576*	ENST00000156626.7	37	c.1728	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.606093	0.96626	.	.	ENSG00000070526	ENST00000156626	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.2005	18.8284	0.92127	0.0:1.0:0.0:0.0	.	.	.	.	X	576	.	ENSP00000156626:W576X	W	-	3	0	ST6GALNAC1	72133082	1.000000	0.71417	0.998000	0.56505	0.189000	0.23516	5.469000	0.66749	2.524000	0.85096	0.655000	0.94253	TGG	ST6GALNAC1	-	pfam_Glyco_trans_29		0.532	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	C	NM_018414		74621487	-1	no_errors	ENST00000156626	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	74621487	C	T	74621487	4	4	185	1	0	0	0	0	0	1	0	0	15253	856	30	1	78	1	ST6GALNAC1	17	74621487	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	734178	74621487	6573723	1351	35626										
TMC6	11322	genome.wustl.edu	37	chr17	76117640	76117640	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccccccatccccgcacctgGatcatgaactccgagaagac	7	18	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:76117640G>C	ENST00000590602.1	-	11	1539	c.1380C>G	c.(1378-1380)atC>atG	p.I460M	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000589553.1_Missense_Mutation_p.I233M|TMC6_ENST00000392467.3_Missense_Mutation_p.I460M|TMC6_ENST00000591436.1_Missense_Mutation_p.I99M|TMC6_ENST00000322933.4_Missense_Mutation_p.I99M|TMC6_ENST00000322914.3_Missense_Mutation_p.I460M			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	460					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCGCACCTGGATCATGAACT	0.697																																																	0													28	37	34					17																	76117640		2200	4299	6499	SO:0001583	missense	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1380C>G	17.37:g.76117640G>C	ENSP00000465261:p.Ile460Met		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.I460M	ENST00000590602.1	37	c.1380	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	G	9.899	1.206465	0.22205	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.71698	0.71;0.71;-0.59	4.19	0.234	0.15390	.	0.241545	0.40385	N	0.001111	T	0.65954	0.2741	L	0.51422	1.61	0.21719	N	0.999573	P;D;P;D	0.57899	0.928;0.981;0.798;0.967	P;P;B;P	0.51999	0.662;0.687;0.396;0.6	T	0.56792	-0.7920	10	0.33141	T	0.24	-16.7405	5.8003	0.18410	0.2019:0.0:0.642:0.1561	.	233;460;460;99	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	M	460;460;99	ENSP00000313408:I460M;ENSP00000376260:I460M;ENSP00000313479:I99M	ENSP00000313408:I460M	I	-	3	3	TMC6	73629235	0.000000	0.05858	0.134000	0.22075	0.125000	0.20455	0.083000	0.14871	0.195000	0.20347	0.462000	0.41574	ATC	TMC6	-	NULL		0.697	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76117640	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	0.691	C	C	76117640	G	C	76117640	3	2	185	1	0	0	0	0	1	0	0	0	16019	1164	41	1	1077	1	TMC6	17	76117640	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1496153	76117640	5077570	1352	35627										
SOCS3	9021	genome.wustl.edu	37	chr17	76354963	76354963	+	Missense_Mutation	SNP	C	C	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtggcgctggtccgagctgtCgcggatcagaaaggtgccgg							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:76354963C>A	ENST00000330871.2	-	2	629	c.214G>T	c.(214-216)Gac>Tac	p.D72Y	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	72	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TCCGAGCTGTCGCGGATCAGA	0.652																																																	0													29	27	28					17																	76354963		2202	4300	6502	SO:0001583	missense	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.214G>T	17.37:g.76354963C>A	ENSP00000330341:p.Asp72Tyr		O14509	Missense_Mutation	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.D72Y	ENST00000330871.2	37	c.214	CCDS11756.1	17	.	.	.	.	.	.	.	.	.	.	C	19.97	3.926012	0.73327	.	.	ENSG00000184557	ENST00000330871	D	0.89343	-2.5	4.13	4.13	0.48395	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.95658	0.8588	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97038	0.9755	10	0.87932	D	0	-21.7147	16.3864	0.83505	0.0:1.0:0.0:0.0	.	72	O14543	SOCS3_HUMAN	Y	72	ENSP00000330341:D72Y	ENSP00000330341:D72Y	D	-	1	0	SOCS3	73866558	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	7.379000	0.79691	1.845000	0.53610	0.313000	0.20887	GAC	SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.652	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	C			76354963	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76354963	C	A	76354963	3	1	185	1	0	0	0	0	1	0	0	0	14945	884	31	3	467	3	SOCS3	17	76354963	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	237323	76354963	4840247	1353	35628	226	2								
SOCS3	9021	genome.wustl.edu	37	chr17	76354970	76354970	+	Silent	SNP	C	C	T													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggtccgagctgtcgcggatCagaaaggtgccggcgggctc							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:76354970C>T	ENST00000330871.2	-	2	622	c.207G>A	c.(205-207)ctG>ctA	p.L69L	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	69	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TGTCGCGGATCAGAAAGGTGC	0.652																																																	0													27	24	25					17																	76354970		2201	4300	6501	SO:0001819	synonymous_variant	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.207G>A	17.37:g.76354970C>T			O14509	Silent	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.L69	ENST00000330871.2	37	c.207	CCDS11756.1	17																																																																																			SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.652	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	C			76354970	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	silent	SNP	1.000	T	T	76354970	C	T	76354970	2	4	185	1	0	0	0	0	0	0	0	1	14945	813	29	1		1	SOCS3	17	76354970	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7	76354970	4840240	1354	35629	226	2								
SOCS3	9021	genome.wustl.edu	37	chr17	76355014	76355014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actgagcagcaggttcgcctCgccgccggtcactgcgctcc	12	17	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:76355014C>T	ENST00000330871.2	-	2	578	c.163G>A	c.(163-165)Gag>Aag	p.E55K	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	55	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			AGGTTCGCCTCGCCGCCGGTC	0.642																																																	0													15	13	14					17																	76355014		2174	4285	6459	SO:0001583	missense	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.163G>A	17.37:g.76355014C>T	ENSP00000330341:p.Glu55Lys		O14509	Missense_Mutation	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E55K	ENST00000330871.2	37	c.163	CCDS11756.1	17	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003144	0.54254	.	.	ENSG00000184557	ENST00000330871	D	0.89939	-2.59	4.27	3.29	0.37713	SH2 motif (4);	0.180659	0.47455	D	0.000235	D	0.90277	0.6959	M	0.81802	2.56	0.50813	D	0.999896	D	0.53312	0.959	P	0.50896	0.653	D	0.88751	0.3250	10	0.59425	D	0.04	-20.3858	7.4452	0.27207	0.0:0.5972:0.3132:0.0896	.	55	O14543	SOCS3_HUMAN	K	55	ENSP00000330341:E55K	ENSP00000330341:E55K	E	-	1	0	SOCS3	73866609	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	4.467000	0.60155	0.775000	0.33450	0.467000	0.42956	GAG	SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.642	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	C			76355014	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76355014	C	T	76355014	3	4	185	1	0	0	0	0	1	0	0	0	14945	893	31	1	518	1	SOCS3	17	76355014	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	44	76355014	4840196	1355	35630										
C1QTNF1	114897	genome.wustl.edu	37	chr17	77042726	77042726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgctgtgaccccggtacctCcatgtacccggcgaccgccg	11	18	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:77042726C>A	ENST00000339142.2	+	4	800	c.245C>A	c.(244-246)tCc>tAc	p.S82Y	C1QTNF1_ENST00000392445.2_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.S92Y|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.S82Y|C1QTNF1_ENST00000578229.1_5'UTR	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	82					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCGGTACCTCCATGTACCCG	0.592											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													76	77	77					17																	77042726		2203	4300	6503	SO:0001583	missense	114897			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.245C>A	17.37:g.77042726C>A	ENSP00000340864:p.Ser82Tyr	1172	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.S92Y	ENST00000339142.2	37	c.275	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	c	8.710	0.911905	0.17907	.	.	ENSG00000173918	ENST00000339142;ENST00000354124;ENST00000392444;ENST00000392445	T;T	0.77489	-1.09;-1.1	4.21	4.21	0.49690	.	0.435314	0.19443	N	0.114125	T	0.62011	0.2393	N	0.08118	0	0.22639	N	0.99891	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.005;0.005	T	0.60239	-0.7302	10	0.87932	D	0	.	15.2695	0.73689	0.0:1.0:0.0:0.0	.	92;92;82	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	Y	82;92;82;92	ENSP00000340864:S82Y;ENSP00000343230:S92Y	ENSP00000340864:S82Y	S	+	2	0	C1QTNF1	74554321	0.318000	0.24598	0.016000	0.15963	0.011000	0.07611	5.713000	0.68415	2.312000	0.78011	0.556000	0.70494	TCC	C1QTNF1	-	NULL		0.592	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2	C	NM_030968		77042726	1	no_errors	ENST00000354124	ensembl	human	known	70_37	missense	SNP	0.797	A	A	77042726	C	A	77042726	3	1	185	1	0	0	0	0	1	0	0	0	1967	855	30	3	251	3	C1QTNF1	17	77042726	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	687712	77042726	4152484	1356	35631										
NPTX1	4884	genome.wustl.edu	37	chr17	78445576	78445576	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccctggggcttgatggggtGatagggcgccaagttctcgc	17	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:78445576G>A	ENST00000306773.4	-	4	1190	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	345	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TTGATGGGGTGATAGGGCGCC	0.652																																																	0													59	47	51					17																	78445576		2203	4300	6503	SO:0001583	missense	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.1033C>T	17.37:g.78445576G>A	ENSP00000307549:p.His345Tyr		B3KXH3|Q5FWE6	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.H345Y	ENST00000306773.4	37	c.1033	CCDS32762.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.078435	0.94000	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.05081	3.5	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.00747	-1.1583	10	0.27082	T	0.32	-31.1349	18.1318	0.89604	0.0:0.0:1.0:0.0	.	345	Q15818	NPTX1_HUMAN	Y	345;107	ENSP00000307549:H345Y	ENSP00000307549:H345Y	H	-	1	0	NPTX1	76060171	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	9.566000	0.98157	2.607000	0.88179	0.561000	0.74099	CAC	NPTX1	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.652	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX1	HGNC	protein_coding	OTTHUMT00000438051.1	G			78445576	-1	no_errors	ENST00000306773	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78445576	G	A	78445576	3	1	185	1	0	0	0	0	1	0	0	0	10626	1290	45	1	273	1	NPTX1	17	78445576	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1402850	78445576	2749634	1357	35632										
RPTOR	57521	genome.wustl.edu	37	chr17	78796986	78796986	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ataactgcactcccgtcagcAgcccgcgtctgccgcccacg	9	19	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:78796986A>T	ENST00000306801.3	+	9	1461	c.1099A>T	c.(1099-1101)Agc>Tgc	p.S367C	RPTOR_ENST00000544334.2_Missense_Mutation_p.S367C|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.S182C|RPTOR_ENST00000570891.1_Missense_Mutation_p.S367C	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	367					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCCGTCAGCAGCCCGCGTCT	0.552																																																	0													94	98	96					17																	78796986		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1099A>T	17.37:g.78796986A>T	ENSP00000307272:p.Ser367Cys		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.S367C	ENST00000306801.3	37	c.1099	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210308	0.39003	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.46819	0.87;0.86	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	L	0.48986	1.54	0.80722	D	1	D;B;P	0.76494	0.999;0.01;0.487	D;B;B	0.79108	0.992;0.007;0.033	T	0.61013	-0.7148	10	0.38643	T	0.18	.	15.3829	0.74673	1.0:0.0:0.0:0.0	.	367;182;367	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	C	182;367;367	ENSP00000307272:S367C;ENSP00000442479:S367C	ENSP00000307272:S367C	S	+	1	0	RPTOR	76411581	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	8.877000	0.92386	2.034000	0.60081	0.528000	0.53228	AGC	RPTOR	-	NULL		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	A	NM_020761		78796986	1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78796986	A	T	78796986	3	4	185	1	0	0	0	0	1	0	0	0	13695	188	7	5	1133	5	RPTOR	17	78796986	Missense_Mutation	SNP	A	TCGA-Q1-A73O-01A-11D-A32I-09	351410	78796986	2398224	1358	35633										
C17orf70	80233	genome.wustl.edu	37	chr17	79513984	79513984	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcagctccgccgacaccttGatggaagccacagatggggg	14	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:79513984G>C	ENST00000327787.8	-	5	2170	c.2124C>G	c.(2122-2124)atC>atG	p.I708M	C17orf70_ENST00000537152.1_Missense_Mutation_p.I557M|C17orf70_ENST00000425898.2_Missense_Mutation_p.I357M			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	708					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCGACACCTTGATGGAAGCCA	0.592																																																	0													8	9	9					17																	79513984		2157	4254	6411	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2124C>G	17.37:g.79513984G>C	ENSP00000333283:p.Ile708Met		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.I708M	ENST00000327787.8	37	c.2124	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	G	9.746	1.166053	0.21538	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.39056	1.1;1.1;1.1	4.52	3.54	0.40534	.	0.379189	0.22925	N	0.053972	T	0.48429	0.1499	L	0.57536	1.79	0.09310	N	1	P;P	0.52061	0.95;0.95	P;P	0.53809	0.667;0.735	T	0.38672	-0.9650	10	0.87932	D	0	.	7.8532	0.29468	0.0895:0.1617:0.7488:0.0	.	708;357	Q0VG06;E7EVV8	FP100_HUMAN;.	M	708;357;81;557	ENSP00000333283:I708M;ENSP00000399674:I357M;ENSP00000440151:I557M	ENSP00000333283:I708M	I	-	3	3	C17orf70	77124437	1.000000	0.71417	0.007000	0.13788	0.002000	0.02628	2.799000	0.47892	1.106000	0.41623	0.655000	0.94253	ATC	C17orf70	-	NULL		0.592	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	G	NM_025161		79513984	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.056	C	C	79513984	G	C	79513984	3	2	185	1	0	0	0	0	1	0	0	0	1881	1280	45	1	541	1	C17orf70	17	79513984	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	716998	79513984	1681226	1359	35634										
FASN	2194	genome.wustl.edu	37	chr17	80042681	80042681	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtcgggggctcaccctcctCcagcaggaagtggcggaaag	15	12	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:80042681C>G	ENST00000306749.2	-	26	4776	c.4558G>C	c.(4558-4560)Gag>Cag	p.E1520Q	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1520					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TCACCCTCCTCCAGCAGGAAG	0.682																																					Colon(59;314 1043 11189 28578 32273)												0													16	16	16					17																	80042681		1997	3958	5955	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4558G>C	17.37:g.80042681C>G	ENSP00000304592:p.Glu1520Gln		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.E1520Q	ENST00000306749.2	37	c.4558	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	2.234	-0.375352	0.05034	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.26660	1.72	3.87	2.8	0.32819	.	0.932311	0.09159	N	0.840483	T	0.17408	0.0418	L	0.34521	1.04	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.15378	-1.0439	10	0.29301	T	0.29	-8.8675	4.4876	0.11797	0.0:0.3867:0.4163:0.197	.	1520	P49327	FAS_HUMAN	Q	1520;485	ENSP00000304592:E1520Q	ENSP00000304592:E1520Q	E	-	1	0	FASN	77635970	0.664000	0.27457	0.086000	0.20670	0.281000	0.26958	1.108000	0.31123	1.964000	0.57103	0.313000	0.20887	GAG	FASN	-	NULL		0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80042681	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	missense	SNP	0.011	G	G	80042681	C	G	80042681	3	3	185	1	0	0	0	0	1	0	0	0	5701	864	30	1	3049	1	FASN	17	80042681	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	528697	80042681	1152529	1360	35635										
ZNF750	79755	genome.wustl.edu	37	chr17	80790161	80790161	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggaactcgatcctgctctGatactaaagtaatcgagttt	9	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr17:80790161G>C	ENST00000269394.3	-	2	1003	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	57					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCCTGCTCTGATACTAAAGT	0.428																																																	0													124	111	115					17																	80790161		2203	4300	6503	SO:0001587	stop_gained	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.170C>G	17.37:g.80790161G>C	ENSP00000269394:p.Ser57*		Q9H899	Nonsense_Mutation	SNP	NULL	p.S57*	ENST00000269394.3	37	c.170	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.794632	0.99266	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.86	5.86	0.93980	.	0.107915	0.41396	D	0.000884	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.7913	19.1589	0.93524	0.0:0.0:1.0:0.0	.	.	.	.	X	57	.	.	S	-	2	0	ZNF750	78383450	1.000000	0.71417	0.390000	0.26220	0.551000	0.35334	9.285000	0.95894	2.773000	0.95371	0.655000	0.94253	TCA	ZNF750	-	NULL		0.428	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	G	NM_024702		80790161	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	nonsense	SNP	0.995	C	C	80790161	G	C	80790161	4	2	185	1	0	0	0	0	0	1	0	0	18162	1294	45	1	2009	1	ZNF750	17	80790161	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	747480	80790161	405049	1361	35636										
PTPRM	5797	genome.wustl.edu	37	chr18	8394576	8394576	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcacgctgtgaagacactGaggaacaacaagcccaacat	8	11	1	3	rs371862139		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:8394576G>A	ENST00000332175.8	+	30	5309	c.4272G>A	c.(4270-4272)ctG>ctA	p.L1424L	PTPRM_ENST00000400053.4_Silent_p.L1362L|PTPRM_ENST00000444013.1_Silent_p.L1211L|PTPRM_ENST00000400060.4_Silent_p.L1438L|PTPRM_ENST00000580170.1_Silent_p.L1437L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1424	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1424L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAAGACACTGAGGAACAACA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)						G	,	0,4406		0,0,2203	94	72	79		4311,4272	4	1	18		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1437/1466,1424/1453	8394576	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4272G>A	18.37:g.8394576G>A			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L1438	ENST00000332175.8	37	c.4314	CCDS11840.1	18																																																																																			PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.567	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8394576	1	no_errors	ENST00000400060	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8394576	G	A	8394576	2	1	185	1	0	0	0	0	0	0	0	1	12836	1277	45	1		1	PTPRM	18	8394576	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		8394576	69682672	1362	35637										
PPP4R1	9989	genome.wustl.edu	37	chr18	9562029	9562029	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctaaaactgctattgttgctCaagtctgaatcgctgtgaat	8	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:9562029C>G	ENST00000400556.3	-	13	1864	c.1791G>C	c.(1789-1791)ttG>ttC	p.L597F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L580F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	597					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TATTGTTGCTCAAGTCTGAAT	0.373																																					Melanoma(188;1232 2082 5061 11948 35994)												0													169	158	161					18																	9562029		1882	4101	5983	SO:0001583	missense	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1791G>C	18.37:g.9562029C>G	ENSP00000383402:p.Leu597Phe		Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L597F	ENST00000400556.3	37	c.1791	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165480	0.21538	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.20463	2.08;2.07	5.5	4.62	0.57501	Armadillo-type fold (1);	0.335595	0.20502	N	0.091065	T	0.27063	0.0663	L	0.60455	1.87	0.37315	D	0.90929	B;P;B	0.34587	0.164;0.458;0.006	B;B;B	0.42188	0.071;0.379;0.029	T	0.13072	-1.0523	9	.	.	.	-2.4263	10.5933	0.45323	0.0:0.8443:0.0:0.1557	.	580;597;580	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	F	597;580	ENSP00000383402:L597F;ENSP00000383401:L580F	.	L	-	3	2	PPP4R1	9552029	1.000000	0.71417	0.998000	0.56505	0.474000	0.32979	1.354000	0.34056	1.310000	0.45006	0.655000	0.94253	TTG	PPP4R1	-	superfamily_ARM-type_fold		0.373	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	C	NM_005134		9562029	-1	no_errors	ENST00000400556	ensembl	human	known	70_37	missense	SNP	1.000	G	G	9562029	C	G	9562029	3	3	185	1	0	0	0	0	1	0	0	0	12430	825	29	1	1093	1	PPP4R1	18	9562029	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1167453	9562029	68515219	1363	35638										
ANKRD30B	374860	genome.wustl.edu	37	chr18	14778038	14778038	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtttacctgatgctacatatCaaaaagatatcaaaacaata	4	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:14778038C>G	ENST00000358984.4	+	10	1564	c.1384C>G	c.(1384-1386)Caa>Gaa	p.Q462E	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.Q462E	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	462										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGCTACATATCAAAAAGATAT	0.274																																																	0													95	83	86					18																	14778038		692	1591	2283	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1384C>G	18.37:g.14778038C>G	ENSP00000351875:p.Gln462Glu		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q462E	ENST00000358984.4	37	c.1384	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	1.740	-0.491980	0.04322	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.26810	3.33;1.71	1.15	0.13	0.14746	.	.	.	.	.	T	0.12008	0.0292	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.37361	-0.9709	9	0.06891	T	0.86	.	5.0075	0.14295	0.0:0.6135:0.3865:0.0	.	462	F8WAG3	.	E	462	ENSP00000351875:Q462E;ENSP00000399031:Q462E	ENSP00000351875:Q462E	Q	+	1	0	ANKRD30B	14768038	0.004000	0.15560	0.016000	0.15963	0.018000	0.09664	0.166000	0.16583	0.066000	0.16515	0.375000	0.23000	CAA	ANKRD30B	-	NULL		0.274	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	C	NM_001145029		14778038	1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.019	G	G	14778038	C	G	14778038	3	3	185	1	0	0	0	0	1	0	0	0	659	827	29	1	1422	1	ANKRD30B	18	14778038	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5216009	14778038	63299210	1364	35639										
RBBP8	5932	genome.wustl.edu	37	chr18	20564878	20564878	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagtttccaagtcttcaactCatccacaacataatcctaat	2	12	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:20564878C>T	ENST00000399722.2	+	8	985	c.634C>T	c.(634-636)Cat>Tat	p.H212Y	RBBP8_ENST00000327155.5_Missense_Mutation_p.H212Y|RBBP8_ENST00000360790.5_Missense_Mutation_p.H212Y|RBBP8_ENST00000399725.2_Missense_Mutation_p.H212Y	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	212					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.H212Y(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GTCTTCAACTCATCCACAACA	0.308								Homologous recombination																																									2	Substitution - Missense(2)	lung(2)											82	81	82					18																	20564878		2203	4298	6501	SO:0001583	missense	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.634C>T	18.37:g.20564878C>T	ENSP00000382628:p.His212Tyr		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.H212Y	ENST00000399722.2	37	c.634	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525208	0.44969	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.31510	1.51;1.49;1.51;1.51;1.51	5.65	4.76	0.60689	.	0.766529	0.12485	N	0.464727	T	0.31136	0.0787	L	0.51422	1.61	0.80722	D	1	P;B;P	0.36086	0.536;0.396;0.536	B;B;B	0.37198	0.243;0.188;0.243	T	0.02942	-1.1091	10	0.38643	T	0.18	-5.3807	11.8236	0.52254	0.1755:0.8245:0.0:0.0	.	212;212;212	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	Y	212	ENSP00000323050:H212Y;ENSP00000382630:H212Y;ENSP00000382628:H212Y;ENSP00000382627:H212Y;ENSP00000354024:H212Y	ENSP00000323050:H212Y	H	+	1	0	RBBP8	18818876	0.313000	0.24554	0.906000	0.35671	0.980000	0.70556	1.181000	0.32017	1.343000	0.45638	0.561000	0.74099	CAT	RBBP8	-	NULL		0.308	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	C	NM_203291		20564878	1	no_errors	ENST00000327155	ensembl	human	known	70_37	missense	SNP	0.986	T	T	20564878	C	T	20564878	3	4	185	1	0	0	0	0	1	0	0	0	13135	826	29	1	660	1	RBBP8	18	20564878	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5786840	20564878	57512370	1365	35640										
LAMA3	3909	genome.wustl.edu	37	chr18	21511047	21511047	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaggaacctgcaggtcactCtggaagatggttacattgaa	11	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:21511047C>G	ENST00000313654.9	+	65	8699	c.8458C>G	c.(8458-8460)Ctg>Gtg	p.L2820V	LAMA3_ENST00000269217.6_Missense_Mutation_p.L1211V|LAMA3_ENST00000399516.3_Missense_Mutation_p.L2764V|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.L1155V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2820	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCAGGTCACTCTGGAAGATGG	0.388																																																	0													135	134	134					18																	21511047		2203	4300	6503	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8458C>G	18.37:g.21511047C>G	ENSP00000324532:p.Leu2820Val		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2820V	ENST00000313654.9	37	c.8458	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504363	0.64410	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	D;D;D	0.84730	-1.89;-1.89;-1.89	5.57	3.78	0.43462	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.91713	0.7380	M	0.87097	2.86	0.42188	D	0.991712	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.974;0.999	D	0.90797	0.4691	9	0.87932	D	0	.	7.5471	0.27772	0.0:0.7448:0.1672:0.088	.	1155;1211;2764;2820	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	2820;2764;1211	ENSP00000324532:L2820V;ENSP00000382432:L2764V;ENSP00000269217:L1211V	ENSP00000269217:L1211V	L	+	1	2	LAMA3	19765045	0.923000	0.31300	0.998000	0.56505	0.992000	0.81027	1.413000	0.34725	0.712000	0.32039	0.655000	0.94253	CTG	LAMA3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.388	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	C	NM_000227, NM_198129		21511047	1	no_errors	ENST00000313654	ensembl	human	known	70_37	missense	SNP	0.996	G	G	21511047	C	G	21511047	3	3	185	1	0	0	0	0	1	0	0	0	8627	912	32	1	8891	1	LAMA3	18	21511047	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	946169	21511047	56566201	1366	35641										
TAF4B	6875	genome.wustl.edu	37	chr18	23854695	23854695	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgaatactgtaactaccctGaagccttcaagtttgggagc	9	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:23854695G>C	ENST00000269142.5	+	4	1664	c.666G>C	c.(664-666)ctG>ctC	p.L222L	TAF4B_ENST00000578121.1_Silent_p.L222L|TAF4B_ENST00000400466.2_Silent_p.L222L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	222					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TAACTACCCTGAAGCCTTCAA	0.428																																																	0													155	148	150					18																	23854695		1891	4120	6011	SO:0001819	synonymous_variant	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.666G>C	18.37:g.23854695G>C			Q29YA4|Q29YA5	Silent	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.L222	ENST00000269142.5	37	c.666	CCDS42421.1	18																																																																																			TAF4B	-	NULL		0.428	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	G	NM_005640		23854695	1	no_errors	ENST00000269142	ensembl	human	known	70_37	silent	SNP	0.993	C	C	23854695	G	C	23854695	2	2	185	1	0	0	0	0	0	0	0	1	15557	1277	45	1		1	TAF4B	18	23854695	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2343648	23854695	54222553	1367	35642										
DSG4	147409	genome.wustl.edu	37	chr18	28991345	28991345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggaagaggagctctaccatGggaaccctgcgggactacgc	14	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:28991345G>A	ENST00000308128.4	+	15	2424	c.2289G>A	c.(2287-2289)atG>atA	p.M763I	DSG4_ENST00000359747.4_Missense_Mutation_p.M782I|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	763					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTCTACCATGGGAACCCTGC	0.587																																																	0													58	56	57					18																	28991345		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2289G>A	18.37:g.28991345G>A	ENSP00000311859:p.Met763Ile		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.M782I	ENST00000308128.4	37	c.2346	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	8.877	0.950639	0.18431	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.52983	0.64;0.64	5.97	-4.21	0.03812	.	1.030210	0.07789	N	0.954688	T	0.24160	0.0585	N	0.03115	-0.41	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.19418	-1.0306	10	0.35671	T	0.21	.	13.8755	0.63651	0.597:0.0:0.403:0.0	.	782;763	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	I	763;782	ENSP00000311859:M763I;ENSP00000352785:M782I	ENSP00000311859:M763I	M	+	3	0	DSG4	27245343	0.022000	0.18835	0.008000	0.14137	0.537000	0.34900	-0.089000	0.11180	-0.691000	0.05135	0.655000	0.94253	ATG	DSG4	-	NULL		0.587	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	G	NM_177986		28991345	1	no_errors	ENST00000359747	ensembl	human	known	70_37	missense	SNP	0.005	A	A	28991345	G	A	28991345	3	1	185	1	0	0	0	0	1	0	0	0	4789	1348	47	4	2468	4	DSG4	18	28991345	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5136650	28991345	49085903	1368	35643										
KLHL14	57565	genome.wustl.edu	37	chr18	30260513	30260513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccagtttcattccttccacCaattacgtataaatgcttgt	5	11	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:30260513C>T	ENST00000359358.4	-	6	1726	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	430						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TTCCTTCCACCAATTACGTAT	0.453																																																	0													84	80	81					18																	30260513		2203	4300	6503	SO:0001583	missense	57565			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1288G>A	18.37:g.30260513C>T	ENSP00000352314:p.Gly430Ser		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G430S	ENST00000359358.4	37	c.1288	CCDS32813.1	18	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526626	0.85706	.	.	ENSG00000197705	ENST00000359358	D	0.98792	-5.14	5.43	5.43	0.79202	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98202	1.0468	10	0.87932	D	0	.	19.5897	0.95503	0.0:1.0:0.0:0.0	.	430	Q9P2G3	KLH14_HUMAN	S	430	ENSP00000352314:G430S	ENSP00000352314:G430S	G	-	1	0	KLHL14	28514511	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.487000	0.81328	2.688000	0.91661	0.650000	0.86243	GGT	KLHL14	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.453	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	C			30260513	-1	no_errors	ENST00000359358	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30260513	C	T	30260513	3	4	185	1	0	0	0	0	1	0	0	0	8390	594	21	4	614	4	KLHL14	18	30260513	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1269168	30260513	47816735	1369	35644										
CCDC11	220136	genome.wustl.edu	37	chr18	47769346	47769346	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttgcctccttttcaagtctCagctccttgtccttctcagc	5	16	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:47769346C>T	ENST00000398545.4	-	6	1254	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L		NM_145020.3	NP_659457.2												p.L379L(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTTCAAGTCTCAGCTCCTTGT	0.413																																																	1	Substitution - coding silent(1)	pancreas(1)											263	265	264					18																	47769346		2108	4239	6347	SO:0001819	synonymous_variant	220136																														ENST00000398545.4:c.1137G>A	18.37:g.47769346C>T				Silent	SNP	NULL	p.L379	ENST00000398545.4	37	c.1137	CCDS11940.2	18																																																																																			CCDC11	-	NULL		0.413	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	C			47769346	-1	no_errors	ENST00000398545	ensembl	human	known	70_37	silent	SNP	0.925	T	T	47769346	C	T	47769346	2	4	185	1	0	0	0	0	0	0	0	1	2751	813	29	1		1	CCDC11	18	47769346	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	17508833	47769346	30307902	1370	35645										
SMAD4	4089	genome.wustl.edu	37	chr18	48591955	48591955	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actctccaatgtccacaggaCagaagccattgagagagcaa	9	11	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:48591955C>G	ENST00000342988.3	+	9	1656	c.1118C>G	c.(1117-1119)aCa>aGa	p.T373R	SMAD4_ENST00000398417.2_Missense_Mutation_p.T373R|SMAD4_ENST00000588745.1_Missense_Mutation_p.T277R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	373	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTCCACAGGACAGAAGCCATT	0.403																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											101	85	90					18																	48591955		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1118C>G	18.37:g.48591955C>G	ENSP00000341551:p.Thr373Arg		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.T373R	ENST00000342988.3	37	c.1118	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014280	0.93404	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97114	-4.25;-4.25	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98869	1.0765	10	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	373	Q13485	SMAD4_HUMAN	R	373	ENSP00000341551:T373R;ENSP00000381452:T373R	ENSP00000341551:T373R	T	+	2	0	SMAD4	46845953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.672000	0.83956	2.771000	0.95319	0.563000	0.77884	ACA	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.403	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48591955	1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48591955	C	G	48591955	3	3	185	1	0	0	0	0	1	0	0	0	14790	478	17	4	1148	4	SMAD4	18	48591955	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	822609	48591955	29485293	1371	35646										
DCC	1630	genome.wustl.edu	37	chr18	50985767	50985767	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atccaaagttgccaagacctCacaccagtcagccacagcca	6	16	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:50985767C>G	ENST00000442544.2	+	24	4174	c.3558C>G	c.(3556-3558)ctC>ctG	p.L1186L	DCC_ENST00000581580.1_Silent_p.L821L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1186					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCAAGACCTCACACCAGTCA	0.453																																																	0													130	128	129					18																	50985767		2203	4300	6503	SO:0001819	synonymous_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3558C>G	18.37:g.50985767C>G				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1186	ENST00000442544.2	37	c.3558	CCDS11952.1	18																																																																																			DCC	-	pfam_Neogenin_C		0.453	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		50985767	1	no_errors	ENST00000442544	ensembl	human	known	70_37	silent	SNP	1.000	G	G	50985767	C	G	50985767	2	3	185	1	0	0	0	0	0	0	0	1	4287	813	29	1		1	DCC	18	50985767	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2393812	50985767	27091481	1372	35647										
MBD2	8932	genome.wustl.edu	37	chr18	51729364	51729364	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggatgagtaggagttcaccaGatgaaggggaagggggtaag	19	3	1	3	rs200544678		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:51729364G>C	ENST00000256429.3	-	2	931				MBD2_ENST00000398398.2_3'UTR|MBD2_ENST00000583046.1_Missense_Mutation_p.L271V	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2						ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		gagttcaccagatgaagggga	0.517																																																	0													146	148	148					18																	51729364		2099	4233	6332	SO:0001627	intron_variant	8932			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.702+2003C>G	18.37:g.51729364G>C			O95242|Q9UIS8	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L271V	ENST00000256429.3	37	c.811	CCDS11953.1	18	.	.	.	.	.	.	.	.	.	.	G	7.675	0.687878	0.14973	.	.	ENSG00000134046	ENST00000398398	.	.	.	4.23	2.43	0.29744	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.09310	N	1	P	0.48162	0.906	B	0.43331	0.416	T	0.16247	-1.0409	7	0.87932	D	0	.	6.2956	0.21085	0.2216:0.0:0.7784:0.0	.	271	Q9UBB5-3	.	V	271	.	ENSP00000381435:L271V	L	-	1	2	MBD2	49983362	0.620000	0.27068	0.153000	0.22517	0.264000	0.26372	0.626000	0.24492	0.734000	0.32515	0.655000	0.94253	CTG	MBD2	-	NULL		0.517	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD2	HGNC	protein_coding	OTTHUMT00000256003.2	G	NM_003927		51729364	-1	no_errors	ENST00000583046	ensembl	human	known	70_37	missense	SNP	0.204	C	C	51729364	G	C	51729364	1	2	185	0	1	0	0	0	0	0	0	0	9366	933	33	1		1	MBD2	18	51729364	Intron	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	743597	51729364	26347884	1373	35648										
ALPK2	115701	genome.wustl.edu	37	chr18	56278936	56278936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttaccagatattatgcagcGaagcacagcgtctgacttct	9	10	2	2	rs113027270		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:56278936G>A	ENST00000361673.3	-	2	307	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	32	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTATGCAGCGAAGCACAGCG	0.463																																																	0													134	131	132					18																	56278936		1851	4106	5957	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.94C>T	18.37:g.56278936G>A	ENSP00000354991:p.Arg32Cys		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.R32C	ENST00000361673.3	37	c.94	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602930	0.66445	.	.	ENSG00000198796	ENST00000361673	T	0.68025	-0.3	5.5	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73682	0.3618	L	0.50847	1.595	0.40786	D	0.983217	D	0.89917	1.0	D	0.79784	0.993	T	0.75204	-0.3400	9	0.72032	D	0.01	-5.9807	7.4976	0.27498	0.1683:0.0:0.8317:0.0	.	32	Q86TB3	ALPK2_HUMAN	C	32	ENSP00000354991:R32C	ENSP00000354991:R32C	R	-	1	0	ALPK2	54429916	0.998000	0.40836	1.000000	0.80357	0.841000	0.47740	2.695000	0.47043	2.592000	0.87571	0.591000	0.81541	CGC	ALPK2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.463	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	G	NM_052947		56278936	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.998	A	A	56278936	G	A	56278936	3	1	185	1	0	0	0	0	1	0	0	0	545	1058	37	1	6466	1	ALPK2	18	56278936	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4549572	56278936	21798312	1374	35649										
ZNF532	55205	genome.wustl.edu	37	chr18	56651248	56651248	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaagaaccagttctggagttCaggcctccccgaggagcaat	12	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:56651248C>G	ENST00000336078.4	+	11	4232	c.3456C>G	c.(3454-3456)ttC>ttG	p.F1152L	ZNF532_ENST00000591083.1_Missense_Mutation_p.F1152L|ZNF532_ENST00000591230.1_Missense_Mutation_p.F1152L|ZNF532_ENST00000589288.1_Missense_Mutation_p.F1152L|ZNF532_ENST00000591808.1_Missense_Mutation_p.F1152L|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTCTGGAGTTCAGGCCTCCCC	0.488																																																	0													79	81	80					18																	56651248		2203	4300	6503	SO:0001583	missense	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3456C>G	18.37:g.56651248C>G	ENSP00000338217:p.Phe1152Leu		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F1152L	ENST00000336078.4	37	c.3456	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273358	0.23221	.	.	ENSG00000074657	ENST00000336078	T	0.01446	4.88	5.84	5.84	0.93424	.	0.167571	0.51477	D	0.000083	T	0.02342	0.0072	L	0.47190	1.495	0.41529	D	0.988447	P;B	0.38535	0.635;0.001	B;B	0.30855	0.121;0.002	T	0.64483	-0.6397	10	0.12430	T	0.62	-0.2316	19.7382	0.96215	0.0:1.0:0.0:0.0	.	1152;1152	B3KXW2;Q9HCE3	.;ZN532_HUMAN	L	1152	ENSP00000338217:F1152L	ENSP00000338217:F1152L	F	+	3	2	ZNF532	54802228	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.577000	0.53885	2.769000	0.95229	0.561000	0.74099	TTC	ZNF532	-	NULL		0.488	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	C	NM_018181		56651248	1	no_errors	ENST00000336078	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56651248	C	G	56651248	3	3	185	1	0	0	0	0	1	0	0	0	18002	825	29	1	3486	1	ZNF532	18	56651248	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	372312	56651248	21426000	1375	35650										
RTTN	25914	genome.wustl.edu	37	chr18	67833312	67833312	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctcaccttcgtgatttccaGacagcagtggtaagtttcag	9	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:67833312G>C	ENST00000255674.6	-	14	2201	c.1915C>G	c.(1915-1917)Ctg>Gtg	p.L639V	RTTN_ENST00000454359.1_Missense_Mutation_p.L639V|RTTN_ENST00000437017.1_Missense_Mutation_p.L639V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	639					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTGATTTCCAGACAGCAGTGG	0.398																																																	0													69	67	68					18																	67833312		1908	4125	6033	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1915C>G	18.37:g.67833312G>C	ENSP00000255674:p.Leu639Val		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L639V	ENST00000255674.6	37	c.1915	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381019	0.42207	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64618	3.6;-0.11;-0.11	5.42	4.55	0.56014	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.75280	0.3828	M	0.71581	2.175	0.45261	D	0.998267	D	0.89917	1.0	D	0.91635	0.999	T	0.76383	-0.2979	10	0.62326	D	0.03	.	9.3962	0.38404	0.2228:0.0:0.7772:0.0	.	639	Q86VV8	RTTN_HUMAN	V	639	ENSP00000255674:L639V;ENSP00000402352:L639V;ENSP00000399520:L639V	ENSP00000255674:L639V	L	-	1	2	RTTN	65984292	1.000000	0.71417	0.999000	0.59377	0.375000	0.29983	3.016000	0.49607	1.275000	0.44379	0.585000	0.79938	CTG	RTTN	-	superfamily_ARM-type_fold		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67833312	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	missense	SNP	0.995	C	C	67833312	G	C	67833312	3	2	185	1	0	0	0	0	1	0	0	0	13767	933	33	1	4909	1	RTTN	18	67833312	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11182064	67833312	10243936	1376	35651										
ZNF236	7776	genome.wustl.edu	37	chr18	74637279	74637279	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agctgcgtttccgtacctcgGgtagaagaaagacacacatg	11	10	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:74637279G>T	ENST00000253159.8	+	22	3988	c.3790G>T	c.(3790-3792)Ggt>Tgt	p.G1264C	ZNF236_ENST00000320610.9_Missense_Mutation_p.G1266C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1264					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCGTACCTCGGGTAGAAGAAA	0.532																																																	0													53	56	55					18																	74637279		2020	4169	6189	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3790G>T	18.37:g.74637279G>T	ENSP00000253159:p.Gly1264Cys		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1264C	ENST00000253159.8	37	c.3790	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477345	0.63849	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.61274	0.12;0.12	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.120542	0.56097	D	0.000035	T	0.68311	0.2987	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.71941	-0.4440	10	0.87932	D	0	.	18.8734	0.92325	0.0:0.0:1.0:0.0	.	1264	Q9UL36	ZN236_HUMAN	C	1264	ENSP00000253159:G1264C;ENSP00000444524:G1264C	ENSP00000253159:G1264C	G	+	1	0	ZNF236	72766267	1.000000	0.71417	0.213000	0.23690	0.127000	0.20565	9.451000	0.97610	2.450000	0.82876	0.650000	0.86243	GGT	ZNF236	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74637279	1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74637279	G	T	74637279	3	4	185	1	0	0	0	0	1	0	0	0	17819	1232	43	4	3876	4	ZNF236	18	74637279	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6803967	74637279	3439969	1377	35652										
KCNG2	26251	genome.wustl.edu	37	chr18	77659102	77659102	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accgtgtgcgtggcctggttCtccttcgagttcctgctgcg	13	13	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:77659102C>T	ENST00000316249.3	+	2	687	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	229					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGGCCTGGTTCTCCTTCGAGT	0.677																																																	0													47	39	42					18																	77659102		2203	4300	6503	SO:0001819	synonymous_variant	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.687C>T	18.37:g.77659102C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv	p.F229	ENST00000316249.3	37	c.687	CCDS12019.1	18																																																																																			KCNG2	-	pfam_Ion_trans_dom,prints_K_chnl		0.677	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG2	HGNC	protein_coding	OTTHUMT00000103906.1	C	NM_012283		77659102	1	no_errors	ENST00000316249	ensembl	human	known	70_37	silent	SNP	1.000	T	T	77659102	C	T	77659102	2	4	185	1	0	0	0	0	0	0	0	1	8048	912	32	1		1	KCNG2	18	77659102	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3021823	77659102	418146	1378	35653										
PARD6G	84552	genome.wustl.edu	37	chr18	77917738	77917738	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggtcggcccgcagggagctGagcagccgctggaggccgcc	19	14	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr18:77917738G>A	ENST00000353265.3	-	3	1244	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	349					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCAGGGAGCTGAGCAGCCGCT	0.786																																																	0													2	2	2					18																	77917738		1257	2527	3784	SO:0001819	synonymous_variant	84552				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"par-6 (partitioning defective 6, C.elegans) homolog gamma", "par-6 partitioning defective 6 homolog gamma (C. elegans)"			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.1047C>T	18.37:g.77917738G>A			A8QM57	Silent	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.L349	ENST00000353265.3	37	c.1047	CCDS12022.1	18																																																																																			PARD6G	-	NULL		0.786	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6G	HGNC	protein_coding	OTTHUMT00000256435.2	G	NM_032510		77917738	-1	no_errors	ENST00000353265	ensembl	human	known	70_37	silent	SNP	1.000	A	A	77917738	G	A	77917738	2	1	185	1	0	0	0	0	0	0	0	1	11471	1277	45	1		1	PARD6G	18	77917738	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	258636	77917738	159510	1379	35654										
ARID3A	1820	genome.wustl.edu	37	chr19	966846	966846	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atggcggcccagctgcccatGagcattcggatcaacagcca	11	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:966846G>C	ENST00000263620.3	+	7	1800	c.1473G>C	c.(1471-1473)atG>atC	p.M491I		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	491	Homodimerization.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCCCATGAGCATTCGGA	0.597																																					Pancreas(29;54 1022 32760 50921)												0													49	52	51					19																	966846		2203	4300	6503	SO:0001583	missense	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1473G>C	19.37:g.966846G>C	ENSP00000263620:p.Met491Ile		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.M491I	ENST00000263620.3	37	c.1473	CCDS12050.1	19	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911121	0.72983	.	.	ENSG00000116017	ENST00000263620	T	0.41065	1.01	4.98	4.98	0.66077	REKLES domain (1);	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	M	0.81341	2.54	0.80722	D	1	B	0.29988	0.264	B	0.30716	0.119	T	0.55335	-0.8157	10	0.54805	T	0.06	-38.8167	16.8388	0.85963	0.0:0.0:1.0:0.0	.	491	Q99856	ARI3A_HUMAN	I	491	ENSP00000263620:M491I	ENSP00000263620:M491I	M	+	3	0	ARID3A	917846	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.995000	0.70631	2.317000	0.78254	0.603000	0.83216	ATG	ARID3A	-	NULL		0.597	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	G	NM_005224		966846	1	no_errors	ENST00000263620	ensembl	human	known	70_37	missense	SNP	1.000	C	C	966846	G	C	966846	3	2	185	1	0	0	0	0	1	0	0	0	916	1290	45	1	1495	1	ARID3A	19	966846	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		966846	58162137	1380	35655										
WDR18	57418	genome.wustl.edu	37	chr19	991247	991247	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaaccaggtgacttgcctgtCagtgtccactgacggcagcg	13	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:991247C>T	ENST00000251289.5	+	7	850	c.827C>T	c.(826-828)tCa>tTa	p.S276L	WDR18_ENST00000587001.2_Missense_Mutation_p.S276L	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	276					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTTGCCTGTCAGTGTCCACT	0.672																																																	0													47	32	37					19																	991247		2180	4279	6459	SO:0001583	missense	57418				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.827C>T	19.37:g.991247C>T	ENSP00000251289:p.Ser276Leu		O60390|Q9BWR2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S276L	ENST00000251289.5	37	c.827	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620408	0.66787	.	.	ENSG00000065268	ENST00000251289	T	0.62364	0.03	3.72	2.64	0.31445	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.065356	0.64402	D	0.000005	T	0.74831	0.3768	M	0.69358	2.11	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	T	0.76206	-0.3044	10	0.72032	D	0.01	.	11.8783	0.52560	0.0:0.822:0.178:0.0	.	276	Q9BV38	WDR18_HUMAN	L	276	ENSP00000251289:S276L	ENSP00000251289:S276L	S	+	2	0	WDR18	942247	1.000000	0.71417	0.465000	0.27155	0.336000	0.28762	7.343000	0.79319	0.711000	0.32018	0.591000	0.81541	TCA	WDR18	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.672	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	HGNC	protein_coding	OTTHUMT00000458225.2	C			991247	1	no_errors	ENST00000251289	ensembl	human	known	70_37	missense	SNP	0.995	T	T	991247	C	T	991247	3	4	185	1	0	0	0	0	1	0	0	0	17309	838	29	1	853	1	WDR18	19	991247	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	24401	991247	58137736	1381	35656										
AP3D1	8943	genome.wustl.edu	37	chr19	2114814	2114814	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtcatcctcgtcgctgggcaGagcattctgacaggaagaga	13	10	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:2114814G>C	ENST00000345016.5	-	21	2587	c.2356C>G	c.(2356-2358)Ctg>Gtg	p.L786V	AP3D1_ENST00000356926.4_Missense_Mutation_p.L695V|AP3D1_ENST00000350812.6_Missense_Mutation_p.L617V|AP3D1_ENST00000355272.6_Missense_Mutation_p.L786V	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	786					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCTGGGCAGAGCATTCTGA	0.587																																																	0													119	124	123					19																	2114814		2007	4181	6188	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2356C>G	19.37:g.2114814G>C	ENSP00000344055:p.Leu786Val		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.L786V	ENST00000345016.5	37	c.2356	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	G	2.826	-0.243813	0.05906	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000350812	T;T;T;T	0.62941	2.21;-0.01;1.66;-0.01	4.71	1.28	0.21552	.	0.000000	0.64402	D	0.000007	T	0.54902	0.1887	M	0.65320	2	0.46131	D	0.99888	B;B;B	0.25351	0.124;0.078;0.113	B;B;B	0.30401	0.052;0.115;0.032	T	0.41520	-0.9504	10	0.29301	T	0.29	-20.6032	7.6675	0.28439	0.4542:0.0:0.5458:0.0	.	786;786;695	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	V	695;786;786;617	ENSP00000349398:L695V;ENSP00000344055:L786V;ENSP00000347416:L786V;ENSP00000342321:L617V	ENSP00000344055:L786V	L	-	1	2	AP3D1	2065814	0.986000	0.35501	0.755000	0.31263	0.032000	0.12392	2.226000	0.42963	0.085000	0.17107	-0.369000	0.07265	CTG	AP3D1	-	pfam_BLV_receptor,pirsf_AP3_complex_dsu		0.587	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	G			2114814	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	missense	SNP	0.784	C	C	2114814	G	C	2114814	3	2	185	1	0	0	0	0	1	0	0	0	746	933	33	1	1303	1	AP3D1	19	2114814	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1123567	2114814	57014169	1382	35657										
AP3D1	8943	genome.wustl.edu	37	chr19	2121284	2121284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggtcatcagcttcttcacGatctccatcaggttcttctt	7	12	8	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:2121284G>A	ENST00000345016.5	-	13	1359	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	AP3D1_ENST00000356926.4_Silent_p.I285I|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.I207I|AP3D1_ENST00000355272.6_Silent_p.I376I	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	376					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTTCACGATCTCCATCA	0.557																																																	0													179	192	188					19																	2121284		2141	4247	6388	SO:0001819	synonymous_variant	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1128C>T	19.37:g.2121284G>A			O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.I376	ENST00000345016.5	37	c.1128	CCDS42459.1	19																																																																																			AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu		0.557	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	G			2121284	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	silent	SNP	0.375	A	A	2121284	G	A	2121284	2	1	185	1	0	0	0	0	0	0	0	1	746	1048	37	1		1	AP3D1	19	2121284	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6470	2121284	57007699	1383	35658										
GIPC3	126326	genome.wustl.edu	37	chr19	3585802	3585802	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccaagatcgccgaagccttCgggatcgcgcccaccgaggt	13	15	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:3585802C>G	ENST00000322315.5	+	1	252	c.207C>G	c.(205-207)ttC>ttG	p.F69L		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	69										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAAGCCTTCGGGATCGCGC	0.692																																																	0																																										SO:0001583	missense	126326			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.207C>G	19.37:g.3585802C>G	ENSP00000319254:p.Phe69Leu		O75227	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.F69L	ENST00000322315.5	37	c.207	CCDS32871.1	19	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946135	0.73672	.	.	ENSG00000179855	ENST00000322315	D	0.86497	-2.13	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	M	0.78916	2.43	0.58432	D	0.999997	D	0.58268	0.982	D	0.69142	0.962	D	0.90670	0.4597	10	0.59425	D	0.04	-19.1315	7.086	0.25257	0.0:0.8706:0.0:0.1294	.	69	Q8TF64	GIPC3_HUMAN	L	69	ENSP00000319254:F69L	ENSP00000319254:F69L	F	+	3	2	GIPC3	3536802	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	0.741000	0.26202	1.584000	0.49913	0.491000	0.48974	TTC	GIPC3	-	pirsf_UCP038083_PDZ		0.692	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC3	HGNC	protein_coding	OTTHUMT00000394577.1	C	NM_133261		3585802	1	no_errors	ENST00000322315	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3585802	C	G	3585802	3	3	185	1	0	0	0	0	1	0	0	0	6413	883	31	1	209	1	GIPC3	19	3585802	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1464518	3585802	55543181	1384	35659										
PIP5K1C	23396	genome.wustl.edu	37	chr19	3648672	3648672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatgtgcagcagcagccgctCcccgcggccgttcacagcgg	13	16	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:3648672C>T	ENST00000335312.3	-	9	1250	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E388K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E388K|PIP5K1C_ENST00000587482.1_5'Flank|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E388K	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	388	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCAGCCGCTCCCCGCGGCCG	0.687																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													34	37	36					19																	3648672		2199	4290	6489	SO:0001583	missense	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1162G>A	19.37:g.3648672C>T	ENSP00000335333:p.Glu388Lys		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.E388K	ENST00000335312.3	37	c.1162	CCDS32872.1	19	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034545	0.75617	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.36157	1.27;1.27;1.27	4.04	4.04	0.47022	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	M	0.73217	2.22	0.58432	D	0.99999	P;P	0.50710	0.843;0.938	P;P	0.54664	0.62;0.758	T	0.60840	-0.7183	10	0.87932	D	0	-33.4158	15.1514	0.72703	0.0:1.0:0.0:0.0	.	388;388	O60331-3;O60331	.;PI51C_HUMAN	K	388	ENSP00000335333:E388K;ENSP00000445992:E388K;ENSP00000444779:E388K	ENSP00000335333:E388K	E	-	1	0	PIP5K1C	3599672	1.000000	0.71417	0.978000	0.43139	0.206000	0.24218	7.735000	0.84939	1.795000	0.52594	0.297000	0.19635	GAG	PIP5K1C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.687	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	C	NM_012398		3648672	-1	no_errors	ENST00000537021	ensembl	human	known	70_37	missense	SNP	1.000	T	T	3648672	C	T	3648672	3	4	185	1	0	0	0	0	1	0	0	0	11965	864	30	1	884	1	PIP5K1C	19	3648672	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	62870	3648672	55480311	1385	35660										
DAPK3	1613	genome.wustl.edu	37	chr19	3959476	3959476	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcggcggccgccgcctcctCcagcaccttggagaagcgct	12	18	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:3959476C>G	ENST00000545797.2	-	9	1231	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Missense_Mutation_p.E330Q			O43293	DAPK3_HUMAN	death-associated protein kinase 3	330					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCCTCCTCCAGCACCTTG	0.672																																																	0													11	10	10					19																	3959476		2060	4080	6140	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.988G>C	19.37:g.3959476C>G	ENSP00000442973:p.Glu330Gln		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E330Q	ENST00000545797.2	37	c.988	CCDS12116.1	19	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779876	0.90195	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.69685	-0.42;-0.42	4.91	4.91	0.64330	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.47716	1.5	0.58432	D	0.999995	P	0.50369	0.934	B	0.43360	0.417	T	0.69621	-0.5096	10	0.59425	D	0.04	.	16.6627	0.85245	0.0:1.0:0.0:0.0	.	330	O43293	DAPK3_HUMAN	Q	330	ENSP00000301264:E330Q;ENSP00000442973:E330Q	ENSP00000301264:E330Q	E	-	1	0	DAPK3	3910476	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.337000	0.79256	2.279000	0.76181	0.561000	0.74099	GAG	DAPK3	-	superfamily_Kinase-like_dom		0.672	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	C	NM_001348		3959476	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3959476	C	G	3959476	3	3	185	1	0	0	0	0	1	0	0	0	4242	864	30	1	380	1	DAPK3	19	3959476	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	310804	3959476	55169507	1386	35661										
TICAM1	148022	genome.wustl.edu	37	chr19	4816923	4816923	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggggagctctccaggggcagGaaggggatgacacagtctgg	19	8	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:4816923G>C	ENST00000248244.5	-	2	1696	c.1467C>G	c.(1465-1467)ttC>ttG	p.F489L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	489					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCAGGGGCAGGAAGGGGATGA	0.647																																																	0													40	38	39					19																	4816923		2203	4299	6502	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1467C>G	19.37:g.4816923G>C	ENSP00000248244:p.Phe489Leu		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.F489L	ENST00000248244.5	37	c.1467	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224321	0.39300	.	.	ENSG00000127666	ENST00000248244	T	0.39997	1.05	4.73	3.69	0.42338	.	0.188899	0.25922	N	0.027422	T	0.27559	0.0677	N	0.25647	0.755	0.26955	N	0.965947	B	0.20780	0.048	B	0.22386	0.039	T	0.14504	-1.0470	10	0.27082	T	0.32	-23.064	8.5804	0.33626	0.1971:0.0:0.8029:0.0	.	489	Q8IUC6	TCAM1_HUMAN	L	489	ENSP00000248244:F489L	ENSP00000248244:F489L	F	-	3	2	TICAM1	4767923	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	1.447000	0.35101	1.115000	0.41800	0.313000	0.20887	TTC	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.647	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4816923	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	missense	SNP	1.000	C	C	4816923	G	C	4816923	3	2	185	1	0	0	0	0	1	0	0	0	15922	1165	41	1	675	1	TICAM1	19	4816923	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	857447	4816923	54312060	1387	35662										
KDM4B	23030	genome.wustl.edu	37	chr19	5144297	5144297	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgtccctaggccaggtggtCatcaccaagaaccgcaacgg	12	13	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5144297C>T	ENST00000159111.4	+	20	2993	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	KDM4B_ENST00000536461.1_Silent_p.V959V	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	925	Tudor 1.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCAGGTGGTCATCACCAAGA	0.672																																																	0													44	31	36					19																	5144297		2197	4296	6493	SO:0001819	synonymous_variant	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2775C>T	19.37:g.5144297C>T			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.V925	ENST00000159111.4	37	c.2775	CCDS12138.1	19																																																																																			KDM4B	-	smart_Tudor		0.672	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	C	NM_015015		5144297	1	no_errors	ENST00000159111	ensembl	human	known	70_37	silent	SNP	0.996	T	T	5144297	C	T	5144297	2	4	185	1	0	0	0	0	0	0	0	1	8149	813	29	1		1	KDM4B	19	5144297	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	327374	5144297	53984686	1388	35663										
KDM4B	23030	genome.wustl.edu	37	chr19	5150378	5150378	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccccctgcaggtggagtttGaggacgggtcccagctgacg	15	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5150378G>C	ENST00000159111.4	+	22	3249	c.3031G>C	c.(3031-3033)Gag>Cag	p.E1011Q	KDM4B_ENST00000536461.1_Missense_Mutation_p.E1045Q	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	1011	Tudor 2.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTGGAGTTTGAGGACGGGTC	0.677																																																	0													61	46	51					19																	5150378		2068	4028	6096	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.3031G>C	19.37:g.5150378G>C	ENSP00000159111:p.Glu1011Gln		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E1011Q	ENST00000159111.4	37	c.3031	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453376	0.84209	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.79940	-1.32;-1.32	4.59	4.59	0.56863	Tudor domain (1);	0.201604	0.43260	D	0.000587	D	0.86690	0.5993	M	0.64567	1.98	0.42098	D	0.991321	B;D	0.67145	0.301;0.996	B;P	0.60012	0.117;0.867	D	0.88144	0.2846	10	0.54805	T	0.06	-32.7806	17.3928	0.87437	0.0:0.0:1.0:0.0	.	1045;1011	F5GX28;O94953	.;KDM4B_HUMAN	Q	1011;1045	ENSP00000159111:E1011Q;ENSP00000440495:E1045Q	ENSP00000159111:E1011Q	E	+	1	0	KDM4B	5101378	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.331000	0.72929	2.096000	0.63516	0.491000	0.48974	GAG	KDM4B	-	smart_Tudor		0.677	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	G	NM_015015		5150378	1	no_errors	ENST00000159111	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5150378	G	C	5150378	3	2	185	1	0	0	0	0	1	0	0	0	8149	1291	45	1	3109	1	KDM4B	19	5150378	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	6081	5150378	53978605	1389	35664										
DUS3L	56931	genome.wustl.edu	37	chr19	5785241	5785241	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tacgcgttggccttgtgcttCggcaagaaggcgaagctggg	16	9	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5785241C>T	ENST00000309061.7	-	13	2022	c.1926G>A	c.(1924-1926)ccG>ccA	p.P642P	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_Intron|DUS3L_ENST00000320699.8_Silent_p.P400P	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	642							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CCTTGTGCTTCGGCAAGAAGG	0.567																																																	0													28	27	27					19																	5785241		2196	4293	6489	SO:0001819	synonymous_variant	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1926G>A	19.37:g.5785241C>T			Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	pfam_tRNA_hU_synthase	p.P642	ENST00000309061.7	37	c.1926	CCDS32880.1	19																																																																																			DUS3L	-	NULL		0.567	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	C	NM_020175		5785241	-1	no_errors	ENST00000309061	ensembl	human	known	70_37	silent	SNP	0.886	T	T	5785241	C	T	5785241	2	4	185	1	0	0	0	0	0	0	0	1	4817	871	31	1		1	DUS3L	19	5785241	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	634863	5785241	53343742	1390	35665										
FUT3	2525	genome.wustl.edu	37	chr19	5844386	5844386	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcgctgcggtaggacatggtGagattgaagtatctgtccag	14	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5844386G>A	ENST00000303225.6	-	3	1099	c.465C>T	c.(463-465)ctC>ctT	p.L155L	FUT3_ENST00000589918.1_Silent_p.L155L|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Silent_p.L155L|FUT3_ENST00000458379.2_Silent_p.L155L	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	155					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGACATGGTGAGATTGAAGT	0.647																																					Esophageal Squamous(82;745 1728 24593 44831)												0													62	56	58					19																	5844386		2203	4300	6503	SO:0001819	synonymous_variant	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.465C>T	19.37:g.5844386G>A			B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	pfam_Glyco_trans_10	p.L155	ENST00000303225.6	37	c.465	CCDS12153.1	19																																																																																			FUT3	-	pfam_Glyco_trans_10		0.647	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1	G	NM_000149		5844386	-1	no_errors	ENST00000303225	ensembl	human	known	70_37	silent	SNP	1.000	A	A	5844386	G	A	5844386	2	1	185	1	0	0	0	0	0	0	0	1	6123	1277	45	1		1	FUT3	19	5844386	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	59145	5844386	53284597	1391	35666										
NDUFA11	126328	genome.wustl.edu	37	chr19	5894779	5894779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttgggttttgcaaacacctCccagccctccagccggccca	8	18	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:5894779C>G	ENST00000308961.4	-	4	447	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	NDUFA11_ENST00000418389.2_Intron|FUT5_ENST00000252675.5_Intron|NDUFA11_ENST00000592634.1_3'UTR|AC024592.12_ENST00000586349.1_Intron	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	134					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(1)	2						GCAAACACCTCCCAGCCCTCC	0.607																																																	0													31	28	29					19																	5894779		2203	4299	6502	SO:0001583	missense	126328			AJ539081	CCDS12155.1, CCDS54203.1	19p13.3	2011-07-04				ENSG00000174886		"Mitochondrial respiratory chain complex / Complex I"	20371	protein-coding gene	gene with protein product	"complex I B14.7 subunit"	612638				12381726	Standard	NM_001193375		Approved	B14.7	uc002mdp.2	Q86Y39		ENST00000308961.4:c.400G>C	19.37:g.5894779C>G	ENSP00000311740:p.Glu134Gln		C9JT23|Q6ZS66	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.E134Q	ENST00000308961.4	37	c.400	CCDS12155.1	19	.	.	.	.	.	.	.	.	.	.	C	8.011	0.757533	0.15846	.	.	ENSG00000174886	ENST00000308961	.	.	.	4.09	-8.18	0.01053	.	0.657176	0.14894	N	0.292190	T	0.09686	0.0238	N	0.02539	-0.55	0.09310	N	0.99999	B	0.14438	0.01	B	0.06405	0.002	T	0.24476	-1.0159	9	0.18276	T	0.48	.	7.4963	0.27492	0.0:0.1658:0.4256:0.4085	.	134	Q86Y39	NDUAB_HUMAN	Q	134	.	ENSP00000311740:E134Q	E	-	1	0	NDUFA11	5845779	0.001000	0.12720	0.020000	0.16555	0.008000	0.06430	-0.804000	0.04535	-1.751000	0.01326	-0.802000	0.03209	GAG	NDUFA11	-	NULL		0.607	NDUFA11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA11	HGNC	protein_coding	OTTHUMT00000452218.1	C	NM_175614		5894779	-1	no_errors	ENST00000308961	ensembl	human	known	70_37	missense	SNP	0.020	G	G	5894779	C	G	5894779	3	3	185	1	0	0	0	0	1	0	0	0	10285	864	30	1	29	1	NDUFA11	19	5894779	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	50393	5894779	53234204	1392	35667										
KIAA1543	57662	genome.wustl.edu	37	chr19	7682532	7682532	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaggtgaacgaaccgcagaaGaatcgcattctggaggtgag	14	7	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:7682532G>A	ENST00000160298.4	+	16	3530	c.3429G>A	c.(3427-3429)aaG>aaA	p.K1143K	CAMSAP3_ENST00000446248.2_Silent_p.K1170K	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1143	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.K1143K(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AACCGCAGAAGAATCGCATTC	0.597																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											60	62	61					19																	7682532		2051	4208	6259	SO:0001819	synonymous_variant	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3429G>A	19.37:g.7682532G>A			Q8NDF1	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.K1170	ENST00000160298.4	37	c.3510	CCDS42489.1	19																																																																																			CAMSAP3	-	pfam_CKK_domain,superfamily_PRC_barrell-like		0.597	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	G	XM_048362		7682532	1	no_errors	ENST00000446248	ensembl	human	known	70_37	silent	SNP	1.000	A	A	7682532	G	A	7682532	2	1	185	1	0	0	0	0	0	0	0	1	8263	933	33	1		1	KIAA1543	19	7682532	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1787753	7682532	51446451	1393	35668										
CLEC4G	339390	genome.wustl.edu	37	chr19	7794814	7794814	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cggccacgcgtgttccgagtGaggaagccctagaaaggagg	16	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:7794814G>A	ENST00000328853.5	-	8	704	c.636C>T	c.(634-636)ctC>ctT	p.L212L	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	212	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						TGTTCCGAGTGAGGAAGCCCT	0.672																																					Esophageal Squamous(146;540 1807 3349 19438 30853)												0													47	45	46					19																	7794814		2203	4300	6503	SO:0001819	synonymous_variant	339390			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.636C>T	19.37:g.7794814G>A				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.L212	ENST00000328853.5	37	c.636	CCDS12185.1	19																																																																																			CLEC4G	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.672	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4G	HGNC	protein_coding	OTTHUMT00000461989.1	G	NM_198492		7794814	-1	no_errors	ENST00000328853	ensembl	human	known	70_37	silent	SNP	0.275	A	A	7794814	G	A	7794814	2	1	185	1	0	0	0	0	0	0	0	1	3522	1277	45	1		1	CLEC4G	19	7794814	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	112282	7794814	51334169	1394	35669										
ELAVL1	1994	genome.wustl.edu	37	chr19	8028545	8028545	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttcacattggtgacggcaCcaaacggcccaaacatctgc	8	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:8028545C>G	ENST00000407627.2	-	6	932	c.803G>C	c.(802-804)gGt>gCt	p.G268A	ELAVL1_ENST00000351593.5_Missense_Mutation_p.G295A|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000596459.1_Missense_Mutation_p.G268A	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	268	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGTGACGGCACCAAACGGCCC	0.547																																																	0													135	115	122					19																	8028545		2203	4300	6503	SO:0001583	missense	1994			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.803G>C	19.37:g.8028545C>G	ENSP00000385269:p.Gly268Ala		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.G295A	ENST00000407627.2	37	c.884	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059172	0.76074	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.44083	0.93;0.93	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	M	0.93106	3.38	0.80722	D	1	P	0.49961	0.93	P	0.60345	0.873	T	0.77579	-0.2535	10	0.87932	D	0	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	268	Q15717	ELAV1_HUMAN	A	268;295	ENSP00000385269:G268A;ENSP00000264073:G295A	ENSP00000264073:G295A	G	-	2	0	ELAVL1	7934545	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	GGT	ELAVL1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.547	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	C	NM_001419		8028545	-1	no_errors	ENST00000351593	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8028545	C	G	8028545	3	3	185	1	0	0	0	0	1	0	0	0	5061	507	18	4	181	4	ELAVL1	19	8028545	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	233731	8028545	51100438	1395	35670										
FBN3	84467	genome.wustl.edu	37	chr19	8197937	8197937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcaggagaagctgccatcctCgttgagacacacgccgttga	12	12	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:8197937C>T	ENST00000600128.1	-	14	2059	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K	FBN3_ENST00000270509.2_Missense_Mutation_p.E549K|FBN3_ENST00000601739.1_Missense_Mutation_p.E549K			Q75N90	FBN3_HUMAN	fibrillin 3	549	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCCATCCTCGTTGAGACAC	0.647																																																	0													61	39	47					19																	8197937		2201	4294	6495	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1645G>A	19.37:g.8197937C>T	ENSP00000470498:p.Glu549Lys		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.E549K	ENST00000600128.1	37	c.1645	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	c	18.68	3.676823	0.67928	.	.	ENSG00000142449	ENST00000270509	D	0.91740	-2.9	2.61	2.61	0.31194	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.89238	0.6658	N	0.20610	0.595	0.40182	D	0.977302	D	0.71674	0.998	P	0.58130	0.833	D	0.85539	0.1214	10	0.13853	T	0.58	.	13.4207	0.60996	0.0:1.0:0.0:0.0	.	549	Q75N90	FBN3_HUMAN	K	549	ENSP00000270509:E549K	ENSP00000270509:E549K	E	-	1	0	FBN3	8103937	1.000000	0.71417	0.896000	0.35187	0.343000	0.28985	5.111000	0.64628	1.159000	0.42565	0.461000	0.40582	GAG	FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	C	NM_032447		8197937	-1	no_errors	ENST00000270509	ensembl	human	known	70_37	missense	SNP	1.000	T	T	8197937	C	T	8197937	3	4	185	1	0	0	0	0	1	0	0	0	5722	893	31	1	6988	1	FBN3	19	8197937	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	169392	8197937	50931046	1396	35671										
KANK3	256949	genome.wustl.edu	37	chr19	8399296	8399296	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcttcttcatgatggatttGaggatgcctggcggggatga	14	7	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:8399296G>A	ENST00000593649.1	-	4	1400	c.1335C>T	c.(1333-1335)ctC>ctT	p.L445L	KANK3_ENST00000330915.3_Silent_p.L445L			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	445										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGATGGATTTGAGGATGCCTG	0.647																																																	0													54	54	54					19																	8399296		2203	4300	6503	SO:0001819	synonymous_variant	256949			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1335C>T	19.37:g.8399296G>A			Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L445	ENST00000593649.1	37	c.1335		19																																																																																			KANK3	-	NULL		0.647	KANK3-002	KNOWN	basic	protein_coding	KANK3	HGNC	protein_coding	OTTHUMT00000461379.1	G	NM_198471		8399296	-1	no_errors	ENST00000593649	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8399296	G	A	8399296	2	1	185	1	0	0	0	0	0	0	0	1	7998	1277	45	1		1	KANK3	19	8399296	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	201359	8399296	50729687	1397	35672										
MUC16	94025	genome.wustl.edu	37	chr19	9089380	9089380	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgagtctgtagtctcagcaGaggtgctgagagtgaggaca	16	6	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:9089380G>A	ENST00000397910.4	-	1	2638	c.2435C>T	c.(2434-2436)tCt>tTt	p.S812F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	812	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCAGCAGAGGTGCTGAG	0.522																																																	0													233	221	225					19																	9089380		2026	4185	6211	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2435C>T	19.37:g.9089380G>A	ENSP00000381008:p.Ser812Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S812F	ENST00000397910.4	37	c.2435	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.927	-0.446817	0.04572	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.56	0.437	0.16555	.	.	.	.	.	T	0.01421	0.0046	N	0.03608	-0.345	.	.	.	B	0.22211	0.066	B	0.17979	0.02	T	0.41378	-0.9512	8	0.87932	D	0	.	4.1545	0.10254	0.2295:0.0:0.7705:0.0	.	812	B5ME49	.	F	812	ENSP00000381008:S812F	ENSP00000381008:S812F	S	-	2	0	MUC16	8950380	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.359000	0.07632	0.206000	0.20587	0.205000	0.17691	TCT	MUC16	-	NULL		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9089380	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.001	A	A	9089380	G	A	9089380	3	1	185	1	0	0	0	0	1	0	0	0	9996	942	33	1	41424	1	MUC16	19	9089380	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	690084	9089380	50039603	1398	35673										
MUC16	94025	genome.wustl.edu	37	chr19	9091665	9091665	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagggcagagtatgttctgtCaccacgattgcacctgtaga	11	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:9091665C>T	ENST00000397910.4	-	1	353	c.150G>A	c.(148-150)gtG>gtA	p.V50V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	50	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGTTCTGTCACCACGATTG	0.512																																																	0													143	142	143					19																	9091665		2059	4198	6257	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.150G>A	19.37:g.9091665C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.V50	ENST00000397910.4	37	c.150	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9091665	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	T	T	9091665	C	T	9091665	2	4	185	1	0	0	0	0	0	0	0	1	9996	813	29	1		1	MUC16	19	9091665	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2285	9091665	50037318	1399	35674										
MUC16	94025	genome.wustl.edu	37	chr19	9091809	9091809	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccaggaaggcctgagggtttCagcatggacaggtcaacatt	13	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:9091809C>A	ENST00000397910.4	-	1	209	c.6G>T	c.(4-6)ctG>ctT	p.L2L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGGGTTTCAGCATGGACA	0.542																																																	0													48	46	46					19																	9091809		1963	4148	6111	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6G>T	19.37:g.9091809C>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L2	ENST00000397910.4	37	c.6	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9091809	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.009	A	A	9091809	C	A	9091809	2	1	185	1	0	0	0	0	0	0	0	1	9996	813	29	3		3	MUC16	19	9091809	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	144	9091809	50037174	1400	35675										
ZNF317	57693	genome.wustl.edu	37	chr19	9271850	9271850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgtaggcagtgtggcaaggCcttcaggaaccagtcaacgc	14	10	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:9271850C>T	ENST00000247956.6	+	7	1834	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	ZNF317_ENST00000360385.3_Missense_Mutation_p.A478V	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGTGGCAAGGCCTTCAGGAAC	0.562																																																	0													81	68	72					19																	9271850		2203	4300	6503	SO:0001583	missense	57693			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1529C>T	19.37:g.9271850C>T	ENSP00000247956:p.Ala510Val		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A510V	ENST00000247956.6	37	c.1529	CCDS12210.1	19	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224230	0.39300	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.19105	2.17;2.17	2.72	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.347798	0.21126	N	0.079729	T	0.21227	0.0511	L	0.46819	1.47	0.27234	N	0.959338	B;B	0.29936	0.069;0.262	B;B	0.38921	0.023;0.285	T	0.20140	-1.0284	10	0.72032	D	0.01	-7.6482	7.4159	0.27044	0.0:0.7281:0.2719:0.0	.	478;510	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	V	510;478	ENSP00000247956:A510V;ENSP00000353554:A478V	ENSP00000247956:A510V	A	+	2	0	ZNF317	9132850	0.031000	0.19500	0.475000	0.27278	0.751000	0.42716	0.834000	0.27518	0.691000	0.31592	0.591000	0.81541	GCC	ZNF317	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1	C	NM_020933		9271850	1	no_errors	ENST00000247956	ensembl	human	known	70_37	missense	SNP	0.691	T	T	9271850	C	T	9271850	3	4	185	1	0	0	0	0	1	0	0	0	17865	739	26	4	1551	4	ZNF317	19	9271850	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	180041	9271850	49857133	1401	35676										
ICAM5	7087	genome.wustl.edu	37	chr19	10402778	10402778	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttggctcggaaaggcccgtGagctgcactctggacggact	15	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:10402778G>A	ENST00000221980.4	+	4	804	c.741G>A	c.(739-741)gtG>gtA	p.V247V		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	247	Ig-like C2-type 3.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AAAGGCCCGTGAGCTGCACTC	0.617																																																	0													53	54	53					19																	10402778		2203	4300	6503	SO:0001819	synonymous_variant	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.741G>A	19.37:g.10402778G>A			Q9Y6F3	Silent	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.V247	ENST00000221980.4	37	c.741	CCDS12233.1	19																																																																																			ICAM5	-	NULL		0.617	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	G	NM_003259		10402778	1	no_errors	ENST00000221980	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10402778	G	A	10402778	2	1	185	1	0	0	0	0	0	0	0	1	7503	1277	45	1		1	ICAM5	19	10402778	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1130928	10402778	48726205	1402	35677										
RAVER1	125950	genome.wustl.edu	37	chr19	10441138	10441138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccccatggccccacaaacctGtccctttgtatttgtccaca	5	17	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:10441138G>T	ENST00000293677.6	-	2	416	c.335C>A	c.(334-336)aCa>aAa	p.T112K		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	95	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCACAAACCTGTCCCTTTGTA	0.537																																																	0													68	69	68					19																	10441138		1905	4112	6017	SO:0001583	missense	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.335C>A	19.37:g.10441138G>T	ENSP00000293677:p.Thr112Lys		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T112K	ENST00000293677.6	37	c.335	CCDS45960.1	19	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522693	0.85600	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.08370	3.1	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	M	0.80616	2.505	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.10405	-1.0631	10	0.87932	D	0	-17.0599	14.6449	0.68754	0.0:0.0:1.0:0.0	.	112	E9PAU2	.	K	112;95	ENSP00000293677:T112K	ENSP00000293677:T112K	T	-	2	0	RAVER1	10302138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.305000	0.96197	2.025000	0.59659	0.462000	0.41574	ACA	RAVER1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.537	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1	G	NM_133452		10441138	-1	no_errors	ENST00000293677	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10441138	G	T	10441138	3	4	185	1	0	0	0	0	1	0	0	0	13124	1377	48	4	1983	4	RAVER1	19	10441138	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	38360	10441138	48687845	1403	35678										
ICAM3	3385	genome.wustl.edu	37	chr19	10446430	10446430	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtccagttctgtgcggcatGagaaaggggctccgtggtcg	16	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:10446430G>C	ENST00000160262.5	-	3	774	c.566C>G	c.(565-567)tCa>tGa	p.S189*	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Nonsense_Mutation_p.S112*	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	189	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TGTGCGGCATGAGAAAGGGGC	0.662																																																	0													35	30	31					19																	10446430		2203	4300	6503	SO:0001587	stop_gained	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.566C>G	19.37:g.10446430G>C	ENSP00000160262:p.Ser189*		Q6PD68	Nonsense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.S189*	ENST00000160262.5	37	c.566	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524655	0.85600	.	.	ENSG00000076662	ENST00000160262	.	.	.	4.98	4.98	0.66077	.	0.486052	0.20231	N	0.096473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.7764	14.1117	0.65126	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000160262:S189X	S	-	2	0	ICAM3	10307430	0.992000	0.36948	0.691000	0.30163	0.510000	0.34073	3.231000	0.51294	2.479000	0.83701	0.555000	0.69702	TCA	ICAM3	-	pfscan_Ig-like		0.662	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	G			10446430	-1	no_errors	ENST00000160262	ensembl	human	known	70_37	nonsense	SNP	0.951	C	C	10446430	G	C	10446430	4	2	185	1	0	0	0	0	0	1	0	0	7501	1294	45	1	1097	1	ICAM3	19	10446430	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5292	10446430	48682553	1404	35679										
SLC44A2	57153	genome.wustl.edu	37	chr19	10754001	10754001	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcggccgagaggccttacttCatgtcttccaccctcaagaa	8	14	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:10754001C>T	ENST00000335757.5	+	22	2437	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	SLC44A2_ENST00000407327.4_Silent_p.F685F|SLC44A2_ENST00000586078.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	687					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGCCTTACTTCATGTCTTCCA	0.612																																																	0													48	43	44					19																	10754001		2203	4300	6503	SO:0001819	synonymous_variant	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2061C>T	19.37:g.10754001C>T			B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	pfam_Choline_transptr-like	p.F687	ENST00000335757.5	37	c.2061	CCDS12245.1	19																																																																																			SLC44A2	-	NULL		0.612	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	C			10754001	1	no_errors	ENST00000335757	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10754001	C	T	10754001	2	4	185	1	0	0	0	0	0	0	0	1	14666	825	29	1		1	SLC44A2	19	10754001	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	307571	10754001	48374982	1405	35680										
YIPF2	78992	genome.wustl.edu	37	chr19	11034248	11034248	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggccaccagcctggtgtcctCacggaccacgggccagaggg	15	15	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11034248C>T	ENST00000586748.1	-	8	929	c.757G>A	c.(757-759)Gag>Aag	p.E253K	YIPF2_ENST00000590329.1_Missense_Mutation_p.E214K|YIPF2_ENST00000253031.2_Missense_Mutation_p.E253K			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	253						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CTGGTGTCCTCACGGACCACG	0.682																																																	0													37	41	40					19																	11034248		2203	4298	6501	SO:0001583	missense	78992			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.757G>A	19.37:g.11034248C>T	ENSP00000466055:p.Glu253Lys			Missense_Mutation	SNP	pfam_Yip1	p.E253K	ENST00000586748.1	37	c.757	CCDS12251.1	19	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570524	0.28003	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.32	1.97	0.26223	.	0.539371	0.20368	N	0.093711	T	0.19685	0.0473	N	0.16130	0.375	0.09310	N	1	B	0.30146	0.27	B	0.31812	0.136	T	0.13710	-1.0499	9	0.48119	T	0.1	-22.778	6.3726	0.21489	0.3373:0.5661:0.0:0.0966	.	253	Q9BWQ6	YIPF2_HUMAN	K	253	.	ENSP00000253031:E253K	E	-	1	0	YIPF2	10895248	0.064000	0.20934	0.829000	0.32907	0.171000	0.22731	2.280000	0.43443	0.979000	0.38497	0.462000	0.41574	GAG	YIPF2	-	NULL		0.682	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	C	NM_024029		11034248	-1	no_errors	ENST00000253031	ensembl	human	known	70_37	missense	SNP	0.051	T	T	11034248	C	T	11034248	3	4	185	1	0	0	0	0	1	0	0	0	17509	835	29	1	201	1	YIPF2	19	11034248	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	280247	11034248	48094735	1406	35681										
SMARCA4	6597	genome.wustl.edu	37	chr19	11170754	11170754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtgaagatcaagcttggccGgaaggagaaggcacaggacc	15	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11170754G>A	ENST00000429416.3	+	35	5083	c.4802G>A	c.(4801-4803)cGg>cAg	p.R1601Q	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1568Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1570Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1567Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1570Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1633Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1571Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1601Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1571Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1601					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AAGCTTGGCCGGAAGGAGAAG	0.657			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											17	16	16					19																	11170754		2127	4164	6291	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4802G>A	19.37:g.11170754G>A	ENSP00000395654:p.Arg1601Gln		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R1633Q	ENST00000429416.3	37	c.4898	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387236	0.82902	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D	0.86562	-2.12;-2.12;-2.12;-2.12;-2.14;-2.14	4.48	3.44	0.39384	.	0.000000	0.64402	D	0.000001	D	0.87920	0.6299	L	0.36672	1.1	0.43095	D	0.994771	P;P;P;D;P;P	0.64830	0.9;0.9;0.9;0.994;0.9;0.944	B;B;B;P;B;B	0.61201	0.281;0.281;0.281;0.885;0.281;0.281	D	0.88169	0.2863	10	0.66056	D	0.02	-36.2525	11.3132	0.49377	0.0909:0.0:0.9091:0.0	.	1570;1567;1568;1633;1571;1601	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532	.;.;.;.;.;SMCA4_HUMAN	Q	1601;1633;1635;1601;1568;1567;1570;1571	ENSP00000395654:R1601Q;ENSP00000350720:R1633Q;ENSP00000343896:R1601Q;ENSP00000392837:R1567Q;ENSP00000397783:R1570Q;ENSP00000414727:R1571Q	ENSP00000343896:R1601Q	R	+	2	0	SMARCA4	11031754	1.000000	0.71417	0.933000	0.37362	0.994000	0.84299	6.284000	0.72652	1.102000	0.41551	0.561000	0.74099	CGG	SMARCA4	-	NULL		0.657	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11170754	1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	0.998	A	A	11170754	G	A	11170754	3	1	185	1	0	0	0	0	1	0	0	0	14800	1116	39	2	5041	2	SMARCA4	19	11170754	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	136506	11170754	47958229	1407	35682										
DOCK6	57572	genome.wustl.edu	37	chr19	11322793	11322793	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccccaccagggacgagagaGacatggtgacctgcatcttc	11	13	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11322793G>C	ENST00000294618.7	-	36	4537	c.4526C>G	c.(4525-4527)tCt>tGt	p.S1509C	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.S848C	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1509					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGACGAGAGAGACATGGTGAC	0.597																																																	0													41	41	41					19																	11322793		2051	4184	6235	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4526C>G	19.37:g.11322793G>C	ENSP00000294618:p.Ser1509Cys		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.S1509C	ENST00000294618.7	37	c.4526	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127683	0.77549	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.02032	4.49;4.49	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.971	T	0.02917	-1.1094	10	0.87932	D	0	-13.1487	16.6899	0.85318	0.0:0.0:1.0:0.0	.	848;1509	C9IZV6;Q96HP0	.;DOCK6_HUMAN	C	1509;848	ENSP00000294618:S1509C;ENSP00000321556:S848C	ENSP00000294618:S1509C	S	-	2	0	DOCK6	11183793	1.000000	0.71417	0.932000	0.37286	0.610000	0.37248	9.573000	0.98181	2.307000	0.77673	0.655000	0.94253	TCT	DOCK6	-	NULL		0.597	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	G	NM_020812		11322793	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	C	C	11322793	G	C	11322793	3	2	185	1	0	0	0	0	1	0	0	0	4701	942	33	1	1669	1	DOCK6	19	11322793	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	152039	11322793	47806190	1408	35683										
CCDC159	126075	genome.wustl.edu	37	chr19	11462747	11462747	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccacagaagcgcaggaggatGagatctcagagaacttggtg	14	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11462747G>A	ENST00000588790.1	+	9	952	c.505G>A	c.(505-507)Gag>Aag	p.E169K	CCDC159_ENST00000458408.1_Missense_Mutation_p.E169K			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	284										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCAGGAGGATGAGATCTCAGA	0.582																																																	0													66	69	68					19																	11462747		1948	4132	6080	SO:0001583	missense	126075			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.505G>A	19.37:g.11462747G>A	ENSP00000468232:p.Glu169Lys		B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	NULL	p.E169K	ENST00000588790.1	37	c.505	CCDS45976.1	19	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874483	0.51695	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.54279	0.58	4.94	4.94	0.65067	.	.	.	.	.	T	0.69842	0.3156	M	0.63843	1.955	0.27267	N	0.958461	D;P;P	0.89917	1.0;0.93;0.93	D;P;P	0.85130	0.997;0.526;0.526	T	0.62609	-0.6818	9	0.46703	T	0.11	-26.1157	15.1239	0.72465	0.0:0.0:1.0:0.0	.	284;284;169	P0C7I6;P0C7I6-4;P0C7I6-2	CC159_HUMAN;.;.	K	169;284	ENSP00000402239:E169K	ENSP00000390400:E284K	E	+	1	0	CCDC159	11323747	1.000000	0.71417	0.822000	0.32727	0.120000	0.20174	6.569000	0.73992	2.296000	0.77279	0.555000	0.69702	GAG	CCDC159	-	NULL		0.582	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1	G	NM_001080503		11462747	1	no_errors	ENST00000458408	ensembl	human	known	70_37	missense	SNP	0.963	A	A	11462747	G	A	11462747	3	1	185	1	0	0	0	0	1	0	0	0	2796	1291	45	1	531	1	CCDC159	19	11462747	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	139954	11462747	47666236	1409	35684										
ZNF441	126068	genome.wustl.edu	37	chr19	11891039	11891039	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacacaaaccatgtgagtatCaagaatatggagagaagcca	9	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11891039C>T	ENST00000357901.4	+	4	502	c.400C>T	c.(400-402)Caa>Taa	p.Q134*	ZNF441_ENST00000454339.2_Nonsense_Mutation_p.Q67*	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTGAGTATCAAGAATATGG	0.423																																																	0													109	93	99					19																	11891039		2203	4300	6503	SO:0001587	stop_gained	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.400C>T	19.37:g.11891039C>T	ENSP00000350576:p.Gln134*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q134*	ENST00000357901.4	37	c.400	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	c	17.30	3.355782	0.61293	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	.	.	.	1.22	0.0238	0.14139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9993	0.14257	0.0:0.6128:0.3872:0.0	.	.	.	.	X	90;134;67	.	ENSP00000350576:Q134X	Q	+	1	0	ZNF441	11752039	0.000000	0.05858	0.002000	0.10522	0.077000	0.17291	-0.715000	0.04997	0.049000	0.15920	0.305000	0.20034	CAA	ZNF441	-	NULL		0.423	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	C	NM_152355		11891039	1	no_errors	ENST00000357901	ensembl	human	known	70_37	nonsense	SNP	0.001	T	T	11891039	C	T	11891039	4	4	185	1	0	0	0	0	0	1	0	0	17944	827	29	1	414	1	ZNF441	19	11891039	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	428292	11891039	47237944	1410	35685										
ZNF441	126068	genome.wustl.edu	37	chr19	11891225	11891225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacaccatggagatggacctCgtatatgtaagttgtgtgga	12	7	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11891225C>T	ENST00000357901.4	+	4	688	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ZNF441_ENST00000454339.2_Missense_Mutation_p.R129C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCGTATATGTAA	0.398																																																	0													147	139	142					19																	11891225		2203	4300	6503	SO:0001583	missense	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.586C>T	19.37:g.11891225C>T	ENSP00000350576:p.Arg196Cys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R196C	ENST00000357901.4	37	c.586	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	c	5.030	0.191238	0.09547	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.14893	2.47;2.47	0.859	-0.235	0.13071	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04998	0.0134	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	9	0.66056	D	0.02	.	3.0451	0.06151	0.0:0.3062:0.0:0.6938	.	196	Q8N8Z8	ZN441_HUMAN	C	152;196;129	ENSP00000350576:R196C;ENSP00000403738:R129C	ENSP00000350576:R196C	R	+	1	0	ZNF441	11752225	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.022000	0.13511	-0.179000	0.10654	-0.979000	0.02580	CGT	ZNF441	-	pfscan_Znf_C2H2		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	C	NM_152355		11891225	1	no_errors	ENST00000357901	ensembl	human	known	70_37	missense	SNP	0.000	T	T	11891225	C	T	11891225	3	4	185	1	0	0	0	0	1	0	0	0	17944	884	31	1	600	1	ZNF441	19	11891225	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	186	11891225	47237758	1411	35686										
ZNF440	126070	genome.wustl.edu	37	chr19	11942995	11942995	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacacacgtaagattgcactCtggagaaagaccttatgaat	8	8	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:11942995C>T	ENST00000304060.5	+	4	1168	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGATTGCACTCTGGAGAAAGA	0.363																																																	0													64	65	64					19																	11942995		2203	4300	6503	SO:0001583	missense	126070			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1004C>T	19.37:g.11942995C>T	ENSP00000305373:p.Ser335Phe		Q8N1R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S335F	ENST00000304060.5	37	c.1004	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	c	12.14	1.849824	0.32699	.	.	ENSG00000171295	ENST00000304060	T	0.19806	2.12	0.91	-0.361	0.12564	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38852	0.1056	M	0.68593	2.085	0.21499	N	0.999663	D	0.76494	0.999	D	0.77557	0.99	T	0.16276	-1.0408	9	0.87932	D	0	.	7.6793	0.28505	0.0:0.7321:0.2679:0.0	.	335	Q8IYI8	ZN440_HUMAN	F	335	ENSP00000305373:S335F	ENSP00000305373:S335F	S	+	2	0	ZNF440	11803995	0.959000	0.32827	0.001000	0.08648	0.008000	0.06430	1.184000	0.32053	-0.056000	0.13221	0.205000	0.17691	TCT	ZNF440	-	pfscan_Znf_C2H2		0.363	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	C	NM_152357		11942995	1	no_errors	ENST00000304060	ensembl	human	known	70_37	missense	SNP	0.980	T	T	11942995	C	T	11942995	3	4	185	1	0	0	0	0	1	0	0	0	17943	913	32	1	1018	1	ZNF440	19	11942995	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	51770	11942995	47185988	1412	35687										
ZNF443	10224	genome.wustl.edu	37	chr19	12542452	12542452	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgaaggtttcccaaagaactGaaggacttcccacattcttt	7	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:12542452G>A	ENST00000301547.5	-	4	731	c.534C>T	c.(532-534)ttC>ttT	p.F178F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	178					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CCAAAGAACTGAAGGACTTCC	0.423																																																	0													119	115	116					19																	12542452		2203	4300	6503	SO:0001819	synonymous_variant	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.534C>T	19.37:g.12542452G>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F178	ENST00000301547.5	37	c.534	CCDS32918.1	19																																																																																			ZNF443	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	G	NM_005815		12542452	-1	no_errors	ENST00000301547	ensembl	human	known	70_37	silent	SNP	0.218	A	A	12542452	G	A	12542452	2	1	185	1	0	0	0	0	0	0	0	1	17946	1281	45	1		1	ZNF443	19	12542452	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	599457	12542452	46586531	1413	35688										
ZNF443	10224	genome.wustl.edu	37	chr19	12542517	12542517	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgaagcctctcatgtgtttGaaatgagttgtggtaactga	12	5	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:12542517G>C	ENST00000301547.5	-	4	666	c.469C>G	c.(469-471)Caa>Gaa	p.Q157E	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	157					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCATGTGTTTGAAATGAGTTG	0.433																																																	0													184	168	173					19																	12542517		2203	4300	6503	SO:0001583	missense	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.469C>G	19.37:g.12542517G>C	ENSP00000301547:p.Gln157Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q157E	ENST00000301547.5	37	c.469	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526401	0.27299	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.18016	2.24	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14098	0.0341	L	0.41356	1.27	0.22435	N	0.999108	P	0.40681	0.727	P	0.45660	0.489	T	0.07673	-1.0760	9	0.02654	T	1	.	8.0804	0.30741	0.0:0.0:1.0:0.0	.	157	Q9Y2A4	ZN443_HUMAN	E	157	ENSP00000301547:Q157E	ENSP00000301547:Q157E	Q	-	1	0	ZNF443	12403517	0.000000	0.05858	0.191000	0.23289	0.161000	0.22273	-4.387000	0.00242	0.896000	0.36366	0.461000	0.40582	CAA	ZNF443	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	G	NM_005815		12542517	-1	no_errors	ENST00000301547	ensembl	human	known	70_37	missense	SNP	0.985	C	C	12542517	G	C	12542517	3	2	185	1	0	0	0	0	1	0	0	0	17946	1299	45	1	1550	1	ZNF443	19	12542517	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	65	12542517	46586466	1414	35689										
CALR	811	genome.wustl.edu	37	chr19	13050346	13050346	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcagttcacggtgaaacatGagcagaacatcgactgtggg	13	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:13050346G>C	ENST00000316448.5	+	3	371	c.298G>C	c.(298-300)Gag>Cag	p.E100Q		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	100	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GGTGAAACATGAGCAGAACAT	0.512																																																	0													166	161	162					19																	13050346		2203	4300	6503	SO:0001583	missense	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.298G>C	19.37:g.13050346G>C	ENSP00000320866:p.Glu100Gln		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex	p.E100Q	ENST00000316448.5	37	c.298	CCDS12288.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.928845	0.97116	.	.	ENSG00000179218	ENST00000316448	T	0.46819	0.86	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	L	0.41356	1.27	0.80722	D	1	P	0.48589	0.912	B	0.43916	0.436	T	0.39683	-0.9602	10	0.41790	T	0.15	-40.817	18.0498	0.89344	0.0:0.0:1.0:0.0	.	100	P27797	CALR_HUMAN	Q	100	ENSP00000320866:E100Q	ENSP00000320866:E100Q	E	+	1	0	CALR	12911346	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.808000	0.99193	2.546000	0.85860	0.561000	0.74099	GAG	CALR	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex		0.512	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1	G	NM_004343		13050346	1	no_errors	ENST00000316448	ensembl	human	known	70_37	missense	SNP	1.000	C	C	13050346	G	C	13050346	3	2	185	1	0	0	0	0	1	0	0	0	2597	1291	45	1	308	1	CALR	19	13050346	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	507829	13050346	46078637	1415	35690										
MRI1	81576	genome.wustl.edu	37	chr19	13875878	13875878	+	IGR	SNP	G	G	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctggctgatgttgcagcccGggaggccgaacgggagggcg							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:13875878G>A	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Missense_Mutation_p.R109Q|MRI1_ENST00000040663.6_Missense_Mutation_p.R109Q			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GTTGCAGCCCGGGAGGCCGAA	0.662																																																	0													11	12	12					19																	13875878		2098	4057	6155	SO:0001628	intergenic_variant	84245			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875878G>A			Q9BQ72	Missense_Mutation	SNP	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.R109Q	ENST00000586600.1	37	c.326	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	G	6.951	0.545376	0.13312	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	D;D	0.92249	-3.0;-3.0	5.47	-9.22	0.00675	.	0.876618	0.10101	N	0.716004	T	0.79592	0.4472	N	0.17278	0.47	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.001	T	0.63382	-0.6650	10	0.20519	T	0.43	-21.0147	10.0265	0.42074	0.6372:0.0:0.2627:0.1001	.	109;109	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	Q	109	ENSP00000040663:R109Q;ENSP00000314871:R109Q	ENSP00000040663:R109Q	R	+	2	0	MRI1	13736878	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-1.093000	0.03362	-1.586000	0.01632	-0.152000	0.13540	CGG	MRI1	-	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d		0.662	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453216.2	G	NM_030818		13875878	1	no_errors	ENST00000040663	ensembl	human	known	70_37	missense	SNP	0.003	A	A	13875878	G	A	13875878	1	1	185	0	1	0	0	0	0	0	0	0	9793	1116	39	2		2	MRI1	19	13875878	IGR	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	825532	13875878	45253105	1416	35691	227	2								
MRI1	81576	genome.wustl.edu	37	chr19	13875886	13875886	+	IGR	SNP	G	G	T													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgttgcagcccgggaggccGaacgggagggcgctacggaa							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:13875886G>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Nonsense_Mutation_p.E112*|MRI1_ENST00000040663.6_Nonsense_Mutation_p.E112*			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCGGGAGGCCGAACGGGAGGG	0.647																																																	0													13	14	13					19																	13875886		2103	4074	6177	SO:0001628	intergenic_variant	84245			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875886G>T			Q9BQ72	Nonsense_Mutation	SNP	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.E112*	ENST00000586600.1	37	c.334	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.156426	0.94686	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	.	.	.	5.29	4.25	0.50352	.	0.378170	0.29838	N	0.011073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-45.0256	11.6942	0.51534	0.0866:0.0:0.9134:0.0	.	.	.	.	X	112	.	ENSP00000040663:E112X	E	+	1	0	MRI1	13736886	0.998000	0.40836	0.615000	0.29064	0.022000	0.10575	3.619000	0.54196	1.237000	0.43756	0.643000	0.83706	GAA	MRI1	-	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d		0.647	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453216.2	G	NM_030818		13875886	1	no_errors	ENST00000040663	ensembl	human	known	70_37	nonsense	SNP	0.970	T	T	13875886	G	T	13875886	1	4	185	0	1	0	0	0	0	0	0	0	9793	1059	37	3		3	MRI1	19	13875886	IGR	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	8	13875886	45253097	1417	35692	227	2								
PRKACA	5566	genome.wustl.edu	37	chr19	14208672	14208672	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tactcaaaggtcaggacgatCtgggccgcgtagaaacgggc	14	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:14208672C>A	ENST00000308677.4	-	6	646	c.450G>T	c.(448-450)caG>caT	p.Q150H	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.Q142H|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCAGGACGATCTGGGCCGCGT	0.572																																																	0													81	81	81					19																	14208672		2203	4300	6503	SO:0001583	missense	5566				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.450G>T	19.37:g.14208672C>A	ENSP00000309591:p.Gln150His		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q150H	ENST00000308677.4	37	c.450	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634329	0.67130	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.12672	2.66	4.76	3.73	0.42828	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41823	D	0.000813	T	0.30039	0.0752	L	0.56124	1.755	0.40748	D	0.982899	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.997	T	0.02868	-1.1100	10	0.87932	D	0	.	10.7018	0.45931	0.0:0.9054:0.0:0.0946	.	92;133;150;142	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	H	150;142;150;92	ENSP00000309591:Q150H	ENSP00000309591:Q150H	Q	-	3	2	PRKACA	14069672	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.794000	0.62482	1.003000	0.39130	0.579000	0.79373	CAG	PRKACA	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.572	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1	C	NM_002730		14208672	-1	no_errors	ENST00000308677	ensembl	human	known	70_37	missense	SNP	1.000	A	A	14208672	C	A	14208672	3	1	185	1	0	0	0	0	1	0	0	0	12524	912	32	3	625	3	PRKACA	19	14208672	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	332786	14208672	44920311	1418	35693										
BRD4	23476	genome.wustl.edu	37	chr19	15349979	15349979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcggcgcggcggaactgctCgaagctgtcgctggatgact	16	11	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:15349979C>T	ENST00000263377.2	-	18	3894	c.3673G>A	c.(3673-3675)Gag>Aag	p.E1225K		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1225	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGGAACTGCTCGAAGCTGTCG	0.632			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													34	34	34					19																	15349979		2203	4299	6502	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3673G>A	19.37:g.15349979C>T	ENSP00000263377:p.Glu1225Lys		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E1225K	ENST00000263377.2	37	c.3673	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	c	14.06	2.422566	0.43020	.	.	ENSG00000141867	ENST00000263377	T	0.02787	4.16	4.76	4.76	0.60689	.	0.000000	0.53938	D	0.000056	T	0.09158	0.0226	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.17992	-1.0351	10	0.62326	D	0.03	-26.5384	16.5687	0.84605	0.0:1.0:0.0:0.0	.	1225	O60885	BRD4_HUMAN	K	1225	ENSP00000263377:E1225K	ENSP00000263377:E1225K	E	-	1	0	BRD4	15210979	1.000000	0.71417	0.986000	0.45419	0.248000	0.25809	7.314000	0.78988	2.172000	0.68678	0.550000	0.68814	GAG	BRD4	-	NULL		0.632	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15349979	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15349979	C	T	15349979	3	4	185	1	0	0	0	0	1	0	0	0	1507	893	31	1	427	1	BRD4	19	15349979	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1141307	15349979	43779004	1419	35694										
AKAP8L	26993	genome.wustl.edu	37	chr19	15511673	15511673	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcttccccctcggtgccctCatctgaaagggaaaaggagg	13	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:15511673C>T	ENST00000397410.5	-	7	1046	c.916G>A	c.(916-918)Gag>Aag	p.E306K	AKAP8L_ENST00000595465.2_Missense_Mutation_p.E245K|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	306						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCGGTGCCCTCATCTGAAAGG	0.602																																																	0													48	52	50					19																	15511673		2028	4162	6190	SO:0001583	missense	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.916G>A	19.37:g.15511673C>T	ENSP00000380557:p.Glu306Lys		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	pfam_AKAP95	p.E306K	ENST00000397410.5	37	c.916	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492917	0.84962	.	.	ENSG00000011243	ENST00000397410	T	0.45668	0.89	4.81	4.81	0.61882	.	0.641670	0.16211	N	0.224499	T	0.36908	0.0984	L	0.38175	1.15	0.32953	D	0.519943	B;B;B;B	0.32245	0.155;0.361;0.361;0.155	B;B;B;B	0.34652	0.023;0.133;0.187;0.023	T	0.52704	-0.8540	10	0.51188	T	0.08	-10.6659	13.4048	0.60906	0.0:1.0:0.0:0.0	.	245;76;306;306	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	K	306	ENSP00000380557:E306K	ENSP00000380557:E306K	E	-	1	0	AKAP8L	15372673	1.000000	0.71417	0.993000	0.49108	0.931000	0.56810	4.041000	0.57339	2.231000	0.72958	0.561000	0.74099	GAG	AKAP8L	-	NULL		0.602	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	C	NM_014371		15511673	-1	no_errors	ENST00000397410	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15511673	C	T	15511673	3	4	185	1	0	0	0	0	1	0	0	0	458	835	29	1	1056	1	AKAP8L	19	15511673	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	161694	15511673	43617310	1420	35695										
OR10H2	26538	genome.wustl.edu	37	chr19	15839495	15839495	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgctgggctgttttctcctCatcctcctctcctatgcctt	6	16	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:15839495C>T	ENST00000305899.3	+	1	662	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTTTTCTCCTCATCCTCCTCT	0.537																																																	0													257	198	218					19																	15839495		2203	4300	6503	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.642C>T	19.37:g.15839495C>T			Q6IFQ1|Q96R58	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L214	ENST00000305899.3	37	c.642	CCDS12333.1	19																																																																																			OR10H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.537	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1	C			15839495	1	no_errors	ENST00000305899	ensembl	human	known	70_37	silent	SNP	1.000	T	T	15839495	C	T	15839495	2	4	185	1	0	0	0	0	0	0	0	1	10930	813	29	1		1	OR10H2	19	15839495	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	327822	15839495	43289488	1421	35696										
OR10H1	26539	genome.wustl.edu	37	chr19	15917990	15917990	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggctgaagatgatggggctGaggaagggtgtgaggaccgt	20	4	0	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:15917990G>C	ENST00000334920.2	-	1	946	c.858C>G	c.(856-858)ctC>ctG	p.L286L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGATGGGGCTGAGGAAGGGTG	0.498																																																	0													83	70	74					19																	15917990		2203	4297	6500	SO:0001819	synonymous_variant	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.858C>G	19.37:g.15917990G>C			Q6IFQ2|Q96R59	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L286	ENST00000334920.2	37	c.858	CCDS12335.1	19																																																																																			OR10H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.498	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	G			15917990	-1	no_errors	ENST00000334920	ensembl	human	known	70_37	silent	SNP	0.983	C	C	15917990	G	C	15917990	2	2	185	1	0	0	0	0	0	0	0	1	10929	1277	45	1		1	OR10H1	19	15917990	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	78495	15917990	43210993	1422	35697										
CHERP	84167	genome.wustl.edu	37	chr19	16630141	16630141	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcccttgctccttcgcaccGaggccgcctgagccgctcca	9	19	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:16630141G>A	ENST00000221671.3	+	9	2170				CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Silent_p.L871L|CHERP_ENST00000546361.2_Silent_p.L860L|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCTTCGCACCGAGGCCGCCTG	0.637																																																	0													41	45	44					19																	16630141		2071	4210	6281	SO:0001627	intron_variant	10523			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-764G>A	19.37:g.16630141G>A			Q8N6Y7	Silent	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.L860	ENST00000221671.3	37	c.2580	CCDS12345.1	19																																																																																			CHERP	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.637	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000461218.1	G	NM_032207		16630141	-1	no_errors	ENST00000546361	ensembl	human	known	70_37	silent	SNP	0.851	A	A	16630141	G	A	16630141	1	1	185	0	1	0	0	0	0	0	0	0	3341	1045	37	1		1	CHERP	19	16630141	Intron	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	712151	16630141	42498842	1423	35698										
NWD1	284434	genome.wustl.edu	37	chr19	16872844	16872844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaggatccgagagagccaaGaggcatggcgtcctggccga	15	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:16872844G>C	ENST00000552788.1	+	6	2028	c.2028G>C	c.(2026-2028)aaG>aaC	p.K676N	NWD1_ENST00000523826.1_Missense_Mutation_p.K470N|NWD1_ENST00000549814.1_Missense_Mutation_p.K676N|NWD1_ENST00000339803.6_Missense_Mutation_p.K541N|NWD1_ENST00000379808.3_Missense_Mutation_p.K676N|NWD1_ENST00000524140.2_Missense_Mutation_p.K676N			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	676							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAGAGCCAAGAGGCATGGCG	0.572																																																	0													102	77	86					19																	16872844		2203	4300	6503	SO:0001583	missense	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2028G>C	19.37:g.16872844G>C	ENSP00000447224:p.Lys676Asn		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K676N	ENST00000552788.1	37	c.2028		19	.	.	.	.	.	.	.	.	.	.	G	6.580	0.475397	0.12521	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58210	0.35;0.41;0.35;0.35;0.41;0.4	4.65	3.61	0.41365	.	0.660669	0.14878	N	0.293145	T	0.42921	0.1224	L	0.54323	1.7	0.23787	N	0.996846	B;B;B	0.31125	0.017;0.029;0.309	B;B;B	0.27608	0.01;0.009;0.081	T	0.22103	-1.0226	10	0.20046	T	0.44	-4.2669	8.5835	0.33644	0.1092:0.0:0.8908:0.0	.	676;676;541	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	N	541;676;676;676;470;676;541	ENSP00000428579:K676N;ENSP00000447548:K676N;ENSP00000369136:K676N;ENSP00000428955:K470N;ENSP00000447224:K676N;ENSP00000340159:K541N	ENSP00000340159:K541N	K	+	3	2	NWD1	16733844	0.431000	0.25546	0.130000	0.21974	0.469000	0.32828	0.378000	0.20569	0.959000	0.37980	0.543000	0.68304	AAG	NWD1	-	NULL		0.572	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	G	NM_001007525		16872844	1	no_errors	ENST00000379808	ensembl	human	known	70_37	missense	SNP	0.867	C	C	16872844	G	C	16872844	3	2	185	1	0	0	0	0	1	0	0	0	10805	933	33	1	1637	1	NWD1	19	16872844	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	242703	16872844	42256139	1424	35699										
SIN3B	23309	genome.wustl.edu	37	chr19	16988416	16988416	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcgcgtccagctcgcccactGagggcttcctcctgaaacct	10	17	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:16988416G>A	ENST00000248054.5	+	17	2941	c.2920G>A	c.(2920-2922)Gag>Aag	p.E974K	SIN3B_ENST00000594235.1_3'UTR|SIN3B_ENST00000595541.1_Missense_Mutation_p.E564K|SIN3B_ENST00000379803.1_Missense_Mutation_p.E1006K					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCGCCCACTGAGGGCTTCCT	0.627																																																	0													87	67	74					19																	16988416		2202	4300	6502	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2920G>A	19.37:g.16988416G>A	ENSP00000248054:p.Glu974Lys			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.E1006K	ENST00000248054.5	37	c.3016		19	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384388	0.61845	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.50001	0.76;0.76	4.55	4.55	0.56014	.	0.109904	0.64402	D	0.000009	T	0.50820	0.1638	M	0.68317	2.08	0.80722	D	1	P;P;B	0.40909	0.732;0.609;0.286	B;B;B	0.40901	0.171;0.343;0.071	T	0.59768	-0.7392	10	0.62326	D	0.03	-40.4728	16.2806	0.82678	0.0:0.0:1.0:0.0	.	564;974;1006	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	K	1006;974	ENSP00000369131:E1006K;ENSP00000248054:E974K	ENSP00000248054:E974K	E	+	1	0	SIN3B	16849416	1.000000	0.71417	0.901000	0.35422	0.455000	0.32408	7.562000	0.82300	2.082000	0.62665	0.555000	0.69702	GAG	SIN3B	-	NULL		0.627	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	G	NM_015260		16988416	1	no_errors	ENST00000379803	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16988416	G	A	16988416	3	1	185	1	0	0	0	0	1	0	0	0	14356	1291	45	1	3086	1	SIN3B	19	16988416	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	115572	16988416	42140567	1425	35700										
ANO8	57719	genome.wustl.edu	37	chr19	17441716	17441716	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tatatgccagctcagcccctCtccgcttccattcctctagg	6	17	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:17441716C>G	ENST00000159087.4	-	8	1072	c.914G>C	c.(913-915)aGa>aCa	p.R305T		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	305					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTCAGCCCCTCTCCGCTTCCA	0.602																																																	0													162	156	158					19																	17441716		2203	4300	6503	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.914G>C	19.37:g.17441716C>G	ENSP00000159087:p.Arg305Thr		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.R305T	ENST00000159087.4	37	c.914	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	c	20.5	4.001425	0.74818	.	.	ENSG00000074855	ENST00000159087	T	0.66638	-0.22	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	M	0.69463	2.115	0.29291	N	0.869366	P	0.41910	0.764	P	0.52758	0.708	T	0.73167	-0.4068	10	0.48119	T	0.1	.	14.8688	0.70437	0.0:1.0:0.0:0.0	.	305	Q9HCE9	ANO8_HUMAN	T	305	ENSP00000159087:R305T	ENSP00000159087:R305T	R	-	2	0	ANO8	17302716	0.753000	0.28349	1.000000	0.80357	0.747000	0.42532	3.995000	0.57001	2.108000	0.64289	0.306000	0.20318	AGA	ANO8	-	pfam_Anoctamin		0.602	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	C	XM_050644		17441716	-1	no_errors	ENST00000159087	ensembl	human	known	70_37	missense	SNP	0.996	G	G	17441716	C	G	17441716	3	3	185	1	0	0	0	0	1	0	0	0	703	913	32	1	2828	1	ANO8	19	17441716	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	453300	17441716	41687267	1426	35701										
ANO8	57719	genome.wustl.edu	37	chr19	17444512	17444512	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgggtacctgggaaggtcatCagcacgtcgcagttctctgt	13	10	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:17444512C>T	ENST00000159087.4	-	2	362	c.204G>A	c.(202-204)ctG>ctA	p.L68L	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	68					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L68L(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGAAGGTCATCAGCACGTCGC	0.627																																																	1	Substitution - coding silent(1)	cervix(1)											50	41	44					19																	17444512		2203	4300	6503	SO:0001819	synonymous_variant	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.204G>A	19.37:g.17444512C>T			A6NIJ0	Silent	SNP	pfam_Anoctamin	p.L68	ENST00000159087.4	37	c.204	CCDS32949.1	19																																																																																			ANO8	-	NULL		0.627	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	C	XM_050644		17444512	-1	no_errors	ENST00000159087	ensembl	human	known	70_37	silent	SNP	0.982	T	T	17444512	C	T	17444512	2	4	185	1	0	0	0	0	0	0	0	1	703	813	29	1		1	ANO8	19	17444512	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2796	17444512	41684471	1427	35702										
SLC5A5	6528	genome.wustl.edu	37	chr19	18004651	18004651	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggaccccctgtgttggacatGatggtggtcgagaccagcag	15	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:18004651G>A	ENST00000222248.3	+	15	2244	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	633					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGTTGGACATGATGGTGGTCG	0.607																																					Melanoma(65;1008 1708 7910 46650)												0													30	28	29					19																	18004651		2203	4297	6500	SO:0001583	missense	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1897G>A	19.37:g.18004651G>A	ENSP00000222248:p.Asp633Asn		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.D633N	ENST00000222248.3	37	c.1897	CCDS12368.1	19	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875177	0.33162	.	.	ENSG00000105641	ENST00000222248	D	0.85484	-1.99	3.27	2.1	0.27182	.	2.811090	0.01815	N	0.033677	T	0.77478	0.4136	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.60667	-0.7218	10	0.07482	T	0.82	.	7.7677	0.28988	0.0:0.2606:0.7394:0.0	.	633	Q92911	SC5A5_HUMAN	N	633	ENSP00000222248:D633N	ENSP00000222248:D633N	D	+	1	0	SLC5A5	17865651	0.017000	0.18338	0.002000	0.10522	0.021000	0.10359	1.107000	0.31110	1.846000	0.53633	0.485000	0.47835	GAT	SLC5A5	-	NULL		0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	G			18004651	1	no_errors	ENST00000222248	ensembl	human	known	70_37	missense	SNP	0.001	A	A	18004651	G	A	18004651	3	1	185	1	0	0	0	0	1	0	0	0	14698	1290	45	1	1955	1	SLC5A5	19	18004651	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	560139	18004651	41124332	1428	35703										
CRLF1	9244	genome.wustl.edu	37	chr19	18704914	18704914	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcccgagggcaggatcccctCgtcctgtgcttggaaggaag	15	12	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:18704914C>A	ENST00000392386.3	-	8	1409	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	406					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGATCCCCTCGTCCTGTGCT	0.692																																																	0													12	11	11					19																	18704914		2180	4277	6457	SO:0001587	stop_gained	9244			AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1216G>T	19.37:g.18704914C>A	ENSP00000376188:p.Glu406*		Q9UHH5	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E406*	ENST00000392386.3	37	c.1216	CCDS32962.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.909892	0.97928	.	.	ENSG00000006016	ENST00000392386	.	.	.	4.21	4.21	0.49690	.	0.338021	0.21197	N	0.078539	.	.	.	.	.	.	0.44754	D	0.997757	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-41.2528	11.916	0.52765	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000376188:E406X	E	-	1	0	CRLF1	18565914	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.367000	0.44213	2.188000	0.69820	0.313000	0.20887	GAG	CRLF1	-	NULL		0.692	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF1	HGNC	protein_coding	OTTHUMT00000465129.1	C			18704914	-1	no_errors	ENST00000392386	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	18704914	C	A	18704914	4	1	185	1	0	0	0	0	0	1	0	0	3891	893	31	3	60	3	CRLF1	19	18704914	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	700263	18704914	40424069	1429	35704										
CRTC1	23373	genome.wustl.edu	37	chr19	18853807	18853808	+	Missense_Mutation	DNP	GG	GG	AA													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcccaacgtgaaccagatcGggagtggcaccatggacctg							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:18853807_18853808GG>AA	ENST00000321949.8	+	2	240_241	c.214_215GG>AA	c.(214-216)GGg>AAg	p.G72K	CRTC1_ENST00000601916.1_5'UTR|CRTC1_ENST00000338797.6_Missense_Mutation_p.G72K|CRTC1_ENST00000594658.1_Missense_Mutation_p.G31K	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GAACCAGATCGGGAGTGGCACC	0.658																																																	0																																										SO:0001583	missense	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		Exception_encountered	19.37:g.18853807_18853808delinsAA	ENSP00000323332:p.Gly72Lys			Missense_Mutation	SNP	NULL	p.G72R|p.G72E	ENST00000321949.8	37	c.214|c.215	CCDS32963.1	19																																																																																			CRTC1	-	NULL		0.658	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	G	NM_025021		18853807|18853808	1	no_errors	ENST00000338797	ensembl	human	known	70_37	missense	SNP	1.000	A	AA	18853808	GG	AA	18853807	3	1	185	1	0	0	0	0	1	0	0	0	3904	1116	39	2	220	2	CRTC1	19	18853807	Missense_Mutation	DNP	GG	TCGA-Q1-A73O-01A-11D-A32I-09	148893	18853807	40275176	1430	35705										
ZNF43	7594	genome.wustl.edu	37	chr19	21992472	21992472	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcctctgtgcaccttacactCatccacacttttatggtctt	4	14	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:21992472C>G	ENST00000354959.4	-	4	536	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	ZNF43_ENST00000595461.1_Missense_Mutation_p.E117Q|ZNF43_ENST00000598381.1_Missense_Mutation_p.E117Q|ZNF43_ENST00000594012.1_Missense_Mutation_p.E117Q	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCTTACACTCATCCACACTT	0.338																																																	0													82	81	81					19																	21992472		2203	4298	6501	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.367G>C	19.37:g.21992472C>G	ENSP00000347045:p.Glu123Gln		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E123Q	ENST00000354959.4	37	c.367	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	C	5.777	0.327641	0.10956	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.05513	3.43	1.1	1.1	0.20463	.	.	.	.	.	T	0.24005	0.0581	H	0.94306	3.52	0.09310	N	1	D	0.63880	0.993	P	0.56343	0.796	T	0.14172	-1.0482	9	0.27785	T	0.31	.	9.0224	0.36209	0.0:1.0:0.0:0.0	.	123	P17038	ZNF43_HUMAN	Q	122;123	ENSP00000347045:E123Q	ENSP00000347045:E123Q	E	-	1	0	ZNF43	21784312	0.000000	0.05858	0.008000	0.14137	0.116000	0.19942	-0.255000	0.08769	0.538000	0.28769	0.305000	0.20034	GAG	ZNF43	-	NULL		0.338	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	C	NM_003423		21992472	-1	no_errors	ENST00000354959	ensembl	human	known	70_37	missense	SNP	0.003	G	G	21992472	C	G	21992472	3	3	185	1	0	0	0	0	1	0	0	0	17933	835	29	1	2066	1	ZNF43	19	21992472	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3138665	21992472	37136511	1431	35706										
ZNF99	7652	genome.wustl.edu	37	chr19	22942226	22942226	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tagtgtgtctaatcttatatCtatttgaatttgaatattta	5	3	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:22942226C>G	ENST00000596209.1	-	4	575	c.485G>C	c.(484-486)aGa>aCa	p.R162T	ZNF99_ENST00000397104.3_Missense_Mutation_p.R183T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R183I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AATCTTATATCTATTTGAATT	0.264																																																	1	Substitution - Missense(1)	large_intestine(1)											28	27	27					19																	22942226		1847	4084	5931	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.485G>C	19.37:g.22942226C>G	ENSP00000472969:p.Arg162Thr		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R183T	ENST00000596209.1	37	c.548	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	1.437	-0.568765	0.03910	.	.	ENSG00000213973	ENST00000397104	T	0.26223	1.75	1.78	-3.56	0.04626	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15176	0.0366	L	0.37630	1.12	0.09310	N	1	P	0.41313	0.745	B	0.42882	0.401	T	0.13683	-1.0500	9	0.14252	T	0.57	.	1.486	0.02447	0.1892:0.406:0.2424:0.1623	.	183	A8MXY4	ZNF99_HUMAN	T	183	ENSP00000380293:R183T	ENSP00000380293:R183T	R	-	2	0	ZNF99	22734066	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.022000	0.12480	-1.431000	0.01982	0.395000	0.25975	AGA	ZNF99	-	pfscan_Znf_C2H2		0.264	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	C	XM_065124		22942226	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.000	G	G	22942226	C	G	22942226	3	3	185	1	0	0	0	0	1	0	0	0	18234	913	32	1	2580	1	ZNF99	19	22942226	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	949754	22942226	36186757	1432	35707										
ZNF91	7644	genome.wustl.edu	37	chr19	23542574	23542574	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctctctagtatgaattctCttatgtccatttagggttga	7	7	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:23542574C>G	ENST00000300619.7	-	4	3412	c.3207G>C	c.(3205-3207)aaG>aaC	p.K1069N	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K1037N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1069					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAATTCTCTTATGTCCAT	0.383																																																	0													70	76	74					19																	23542574		2158	4283	6441	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3207G>C	19.37:g.23542574C>G	ENSP00000300619:p.Lys1069Asn		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K1069N	ENST00000300619.7	37	c.3207	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981276	0.34942	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.36157	1.27;3.18	1.49	-0.508	0.11980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40398	0.1115	N	0.25890	0.77	0.09310	N	0.999994	D;D	0.89917	0.986;1.0	P;D	0.91635	0.799;0.999	T	0.25847	-1.0120	9	0.54805	T	0.06	.	6.0951	0.20015	0.0:0.7499:0.0:0.2501	.	1037;1069	Q05481-2;Q05481	.;ZNF91_HUMAN	N	1069;1037	ENSP00000300619:K1069N;ENSP00000380272:K1037N	ENSP00000300619:K1069N	K	-	3	2	ZNF91	23334414	0.000000	0.05858	0.008000	0.14137	0.559000	0.35586	-0.426000	0.07008	-0.241000	0.09681	0.196000	0.17591	AAG	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	C	NM_003430		23542574	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.174	G	G	23542574	C	G	23542574	3	3	185	1	0	0	0	0	1	0	0	0	18230	912	32	1	372	1	ZNF91	19	23542574	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	600348	23542574	35586409	1433	35708										
ZNF91	7644	genome.wustl.edu	37	chr19	23543181	23543181	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcttatgtgtcgtaagatttGaagattgattaaaagctttg	9	3	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:23543181G>A	ENST00000300619.7	-	4	2805	c.2600C>T	c.(2599-2601)tCa>tTa	p.S867L	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S835L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	867					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CGTAAGATTTGAAGATTGATT	0.363																																																	0													68	75	72					19																	23543181		2133	4278	6411	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2600C>T	19.37:g.23543181G>A	ENSP00000300619:p.Ser867Leu		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S867L	ENST00000300619.7	37	c.2600	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844317	0.32606	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.58797	0.31;0.31	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72120	0.3421	M	0.78344	2.41	0.09310	N	1	D;D	0.71674	0.996;0.998	D;D	0.77557	0.99;0.968	T	0.58907	-0.7553	9	0.38643	T	0.18	.	9.7	0.40180	0.0:0.0:1.0:0.0	.	835;867	Q05481-2;Q05481	.;ZNF91_HUMAN	L	867;835	ENSP00000300619:S867L;ENSP00000380272:S835L	ENSP00000300619:S867L	S	-	2	0	ZNF91	23335021	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.309000	0.19332	0.726000	0.32339	0.313000	0.20887	TCA	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	G	NM_003430		23543181	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.001	A	A	23543181	G	A	23543181	3	1	185	1	0	0	0	0	1	0	0	0	18230	1294	45	1	979	1	ZNF91	19	23543181	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	607	23543181	35585802	1434	35709										
ZNF675	171392	genome.wustl.edu	37	chr19	23837002	23837002	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcataatcttttttatattCagtaaggtttgagaattggt	8	3	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:23837002C>T	ENST00000359788.4	-	4	901	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	245					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTTATATTCAGTAAGGTTT	0.318																																																	0													57	61	60					19																	23837002		2202	4296	6498	SO:0001583	missense	171392				CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.733G>A	19.37:g.23837002C>T	ENSP00000352836:p.Glu245Lys		Q8N211	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E245K	ENST00000359788.4	37	c.733	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.451014	0.00175	.	.	ENSG00000197372	ENST00000359788	T	0.35973	1.28	0.916	0.916	0.19373	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	N	0.05177	-0.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32241	-0.9914	9	0.02654	T	1	.	1.8253	0.03119	0.3217:0.4326:0.0:0.2457	.	245	Q8TD23	ZN675_HUMAN	K	245	ENSP00000352836:E245K	ENSP00000352836:E245K	E	-	1	0	ZNF675	23628842	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-5.856000	0.00094	0.300000	0.22699	0.305000	0.20034	GAA	ZNF675	-	pfscan_Znf_C2H2		0.318	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	C	NM_138330		23837002	-1	no_errors	ENST00000359788	ensembl	human	known	70_37	missense	SNP	0.000	T	T	23837002	C	T	23837002	3	4	185	1	0	0	0	0	1	0	0	0	18112	835	29	1	977	1	ZNF675	19	23837002	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	293821	23837002	35291981	1435	35710										
POP4	10775	genome.wustl.edu	37	chr19	30104848	30104848	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caggaaacaaagcacattttCaaaattatcaccaaagaaga	5	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:30104848C>T	ENST00000585603.1	+	6	2797	c.495C>T	c.(493-495)ttC>ttT	p.F165F	POP4_ENST00000221770.3_Silent_p.F41F|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Silent_p.F84F			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	165					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGCACATTTTCAAAATTATCA	0.458																																					Melanoma(89;1165 1449 14085 34436 43672)												0													92	86	88					19																	30104848		2203	4300	6503	SO:0001819	synonymous_variant	10775			BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.495C>T	19.37:g.30104848C>T			Q5XKL7|Q6FHW9|Q9UQQ3	Silent	SNP	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit	p.F165	ENST00000585603.1	37	c.495	CCDS12416.1	19																																																																																			POP4	-	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit		0.458	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP4	HGNC	protein_coding	OTTHUMT00000458710.1	C	NM_006627		30104848	1	no_errors	ENST00000585603	ensembl	human	known	70_37	silent	SNP	1.000	T	T	30104848	C	T	30104848	2	4	185	1	0	0	0	0	0	0	0	1	12276	825	29	1		1	POP4	19	30104848	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6267846	30104848	29024135	1436	35711										
DPY19L3	147991	genome.wustl.edu	37	chr19	32949288	32949288	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaatctctatctgtgtgaaGaagcttttggcctcctgcct	8	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:32949288G>C	ENST00000342179.5	+	12	1410	c.1195G>C	c.(1195-1197)Gaa>Caa	p.E399Q	DPY19L3_ENST00000392250.2_Missense_Mutation_p.E399Q|DPY19L3_ENST00000586987.1_Missense_Mutation_p.E399Q	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	399						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TCTGTGTGAAGAAGCTTTTGG	0.358																																																	0													129	130	129					19																	32949288		2203	4300	6503	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1195G>C	19.37:g.32949288G>C	ENSP00000344937:p.Glu399Gln		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	pfam_Dpy-19	p.E399Q	ENST00000342179.5	37	c.1195	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728967	0.89390	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.56103	0.48;0.48	6.04	6.04	0.98038	.	0.099300	0.64402	D	0.000002	T	0.71710	0.3372	M	0.75264	2.295	0.47441	D	0.999427	D	0.64830	0.994	D	0.63793	0.918	T	0.64618	-0.6365	10	0.24483	T	0.36	-12.1141	20.6396	0.99537	0.0:0.0:1.0:0.0	.	399	Q6ZPD9	D19L3_HUMAN	Q	399	ENSP00000376081:E399Q;ENSP00000344937:E399Q	ENSP00000315672:E399Q	E	+	1	0	DPY19L3	37641128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.470000	0.90399	2.881000	0.98747	0.650000	0.86243	GAA	DPY19L3	-	pfam_Dpy-19		0.358	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	G	NM_207325		32949288	1	no_errors	ENST00000342179	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32949288	G	C	32949288	3	2	185	1	0	0	0	0	1	0	0	0	4752	943	33	1	1237	1	DPY19L3	19	32949288	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2844440	32949288	26179695	1437	35712										
ANKRD27	84079	genome.wustl.edu	37	chr19	33149898	33149898	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agatagaaaggatttttcagGaggtcttcatcatacagagc	10	6	4	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:33149898G>A	ENST00000306065.4	-	2	182	c.24C>T	c.(22-24)ctC>ctT	p.L8L	ANKRD27_ENST00000587352.1_Silent_p.L8L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	8					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GATTTTTCAGGAGGTCTTCAT	0.483																																																	0													87	82	84					19																	33149898		2203	4300	6503	SO:0001819	synonymous_variant	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.24C>T	19.37:g.33149898G>A			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.L8	ENST00000306065.4	37	c.24	CCDS32986.1	19																																																																																			ANKRD27	-	NULL		0.483	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	G	NM_032139		33149898	-1	no_errors	ENST00000306065	ensembl	human	known	70_37	silent	SNP	1.000	A	A	33149898	G	A	33149898	2	1	185	1	0	0	0	0	0	0	0	1	655	1161	41	1		1	ANKRD27	19	33149898	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	200610	33149898	25979085	1438	35713										
ZNF599	148103	genome.wustl.edu	37	chr19	35250490	35250490	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcggatgaaagtggagcgatGagtaaaggcctttccacatt	12	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:35250490G>A	ENST00000329285.8	-	4	1589	c.1216C>T	c.(1216-1218)Cat>Tat	p.H406Y		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTGGAGCGATGAGTAAAGGCC	0.473																																																	0													68	67	67					19																	35250490		2203	4300	6503	SO:0001583	missense	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1216C>T	19.37:g.35250490G>A	ENSP00000333802:p.His406Tyr		Q569K0|Q5PRG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H406Y	ENST00000329285.8	37	c.1216	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462365	0.43736	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.06528	3.29	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04318	0.0119	N	0.04297	-0.235	0.80722	D	1	P	0.48162	0.906	P	0.54060	0.741	T	0.41448	-0.9508	9	0.02654	T	1	.	8.6882	0.34251	0.0:0.0:1.0:0.0	.	406	Q96NL3	ZN599_HUMAN	Y	405;406;180	ENSP00000333802:H406Y	ENSP00000333802:H406Y	H	-	1	0	ZNF599	39942330	0.000000	0.05858	0.716000	0.30569	0.964000	0.63967	-0.701000	0.05075	1.735000	0.51646	0.491000	0.48974	CAT	ZNF599	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	G	XM_086046		35250490	-1	no_errors	ENST00000329285	ensembl	human	known	70_37	missense	SNP	0.977	A	A	35250490	G	A	35250490	3	1	185	1	0	0	0	0	1	0	0	0	18059	1290	45	1	554	1	ZNF599	19	35250490	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2100592	35250490	23878493	1439	35714										
GAPDHS	26330	genome.wustl.edu	37	chr19	36035818	36035818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttctgacttccaggtcgtctCtacggacttcctcggtgata	9	12	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36035818C>G	ENST00000222286.4	+	10	1180	c.1064C>G	c.(1063-1065)tCt>tGt	p.S355C	AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000222284.5_5'Flank|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA|TMEM147_ENST00000392204.2_5'Flank|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_5'Flank	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	355					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGGTCGTCTCTACGGACTTC	0.522																																																	0													111	100	104					19																	36035818		2203	4300	6503	SO:0001583	missense	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.1064C>G	19.37:g.36035818C>G	ENSP00000222286:p.Ser355Cys		B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.S355C	ENST00000222286.4	37	c.1064	CCDS12465.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157931	0.78114	.	.	ENSG00000105679	ENST00000222286	T	0.60424	0.19	4.71	4.71	0.59529	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91086	0.4903	10	0.87932	D	0	-33.5641	15.5386	0.76021	0.0:1.0:0.0:0.0	.	355	O14556	G3PT_HUMAN	C	355	ENSP00000222286:S355C	ENSP00000222286:S355C	S	+	2	0	GAPDHS	40727658	1.000000	0.71417	0.997000	0.53966	0.360000	0.29518	7.609000	0.82925	2.623000	0.88846	0.561000	0.74099	TCT	GAPDHS	-	pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1		0.522	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	C	NM_014364		36035818	1	no_errors	ENST00000222286	ensembl	human	known	70_37	missense	SNP	1.000	G	G	36035818	C	G	36035818	3	3	185	1	0	0	0	0	1	0	0	0	6256	913	32	1	1102	1	GAPDHS	19	36035818	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	785328	36035818	23093165	1440	35715										
NFKBID	84807	genome.wustl.edu	37	chr19	36380797	36380797	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcagtgcttacttaccccctCagggcccggcccgggccgca	11	18	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36380797C>T	ENST00000396901.1	-	11	1456	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NFKBID_ENST00000606253.1_Missense_Mutation_p.E295K|NFKBID_ENST00000340950.2_Missense_Mutation_p.E132K|NFKBID_ENST00000352614.2_Missense_Mutation_p.E447K	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	295					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CTTACCCCCTCAGGGCCCGGC	0.672																																																	0													35	42	40					19																	36380797		1967	4114	6081	SO:0001583	missense	84807			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.883G>A	19.37:g.36380797C>T	ENSP00000380109:p.Glu295Lys		Q8NI39|Q9BRG9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E447K	ENST00000396901.1	37	c.1339	CCDS42552.1	19	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595270	0.86953	.	.	ENSG00000167604	ENST00000352614;ENST00000396901;ENST00000340950	T;T;T	0.57436	0.4;1.08;1.08	3.81	3.81	0.43845	.	0.145674	0.45126	D	0.000396	T	0.55114	0.1900	L	0.27053	0.805	0.47659	D	0.999488	P;D;D	0.63880	0.932;0.97;0.993	P;P;P	0.60789	0.558;0.607;0.879	T	0.58205	-0.7677	10	0.51188	T	0.08	-12.2539	13.5639	0.61806	0.0:1.0:0.0:0.0	.	447;295;132	Q8NI38-2;Q8NI38;Q8NI38-3	.;IKBD_HUMAN;.	K	447;295;132	ENSP00000252985:E447K;ENSP00000380109:E295K;ENSP00000343093:E132K	ENSP00000343093:E132K	E	-	1	0	NFKBID	41072637	0.260000	0.24053	0.957000	0.39632	0.724000	0.41520	0.984000	0.29565	2.117000	0.64856	0.305000	0.20034	GAG	NFKBID	-	NULL		0.672	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NFKBID	HGNC	protein_coding	OTTHUMT00000452927.3	C	NM_032721		36380797	-1	no_errors	ENST00000352614	ensembl	human	known	70_37	missense	SNP	0.996	T	T	36380797	C	T	36380797	3	4	185	1	0	0	0	0	1	0	0	0	10403	835	29	1	66	1	NFKBID	19	36380797	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	344979	36380797	22748186	1441	35716										
LRFN3	79414	genome.wustl.edu	37	chr19	36430545	36430545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcagacaacttcatcgcctCcgtgcgccgccgcgacctgg	12	17	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36430545C>T	ENST00000588831.1	+	3	1272	c.218C>T	c.(217-219)tCc>tTc	p.S73F	LRFN3_ENST00000246529.3_Missense_Mutation_p.S73F			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	73					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCATCGCCTCCGTGCGCCGC	0.706																																																	0													14	15	15					19																	36430545		2154	4205	6359	SO:0001583	missense	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.218C>T	19.37:g.36430545C>T	ENSP00000466989:p.Ser73Phe		Q6UY10	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S73F	ENST00000588831.1	37	c.218	CCDS12483.1	19	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347265	0.24426	.	.	ENSG00000126243	ENST00000246529	T	0.58358	0.34	4.44	3.39	0.38822	.	0.685267	0.12022	N	0.506857	T	0.46795	0.1411	M	0.66560	2.04	0.09310	N	1	P	0.37207	0.587	B	0.39738	0.308	T	0.35822	-0.9773	10	0.10377	T	0.69	.	6.1972	0.20555	0.0:0.7875:0.0:0.2125	.	73	Q9BTN0	LRFN3_HUMAN	F	73	ENSP00000246529:S73F	ENSP00000246529:S73F	S	+	2	0	LRFN3	41122385	0.000000	0.05858	0.026000	0.17262	0.924000	0.55760	-0.777000	0.04669	2.201000	0.70794	0.557000	0.71058	TCC	LRFN3	-	NULL		0.706	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN3	HGNC	protein_coding	OTTHUMT00000457403.2	C	NM_024509		36430545	1	no_errors	ENST00000246529	ensembl	human	known	70_37	missense	SNP	0.000	T	T	36430545	C	T	36430545	3	4	185	1	0	0	0	0	1	0	0	0	8962	855	30	1	220	1	LRFN3	19	36430545	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	49748	36430545	22698438	1442	35717										
WDR62	284403	genome.wustl.edu	37	chr19	36594670	36594670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggctcctgcagccccccgtgGatacccagcctggcgtcacc	11	19	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36594670G>A	ENST00000270301.7	+	30	3925	c.3925G>A	c.(3925-3927)Gat>Aat	p.D1309N	WDR62_ENST00000401500.2_Missense_Mutation_p.D1314N			O43379	WDR62_HUMAN	WD repeat domain 62	1309					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCCCCGTGGATACCCAGCC	0.672																																																	0													71	61	65					19																	36594670		2203	4300	6503	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3925G>A	19.37:g.36594670G>A	ENSP00000270301:p.Asp1309Asn		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1314N	ENST00000270301.7	37	c.3940	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922266	0.17982	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.44881	1.0;0.91	5.06	2.91	0.33838	.	0.903898	0.09516	N	0.791611	T	0.29158	0.0725	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.22208	-1.0223	10	0.49607	T	0.09	-1.9651	7.6986	0.28608	0.1904:0.0:0.8096:0.0	.	1314;1309	O43379-4;O43379	.;WDR62_HUMAN	N	1314;1309	ENSP00000384792:D1314N;ENSP00000270301:D1309N	ENSP00000270301:D1309N	D	+	1	0	WDR62	41286510	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	1.168000	0.31859	0.721000	0.32231	0.555000	0.69702	GAT	WDR62	-	NULL		0.672	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	G	NM_015671		36594670	1	no_errors	ENST00000401500	ensembl	human	known	70_37	missense	SNP	0.001	A	A	36594670	G	A	36594670	3	1	185	1	0	0	0	0	1	0	0	0	17344	1174	41	1	4058	1	WDR62	19	36594670	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	164125	36594670	22534313	1443	35718										
ZFP14	57677	genome.wustl.edu	37	chr19	36831229	36831229	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcttctcaccagtatgaattCtctggtgttgagtaagaaat	9	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36831229C>T	ENST00000270001.7	-	5	1614	c.1499G>A	c.(1498-1500)aGa>aAa	p.R500K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R500I(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AGTATGAATTCTCTGGTGTTG	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											70	69	70					19																	36831229		2203	4300	6503	SO:0001583	missense	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1499G>A	19.37:g.36831229C>T	ENSP00000270001:p.Arg500Lys		A7MD23	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R500K	ENST00000270001.7	37	c.1499	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	c	13.82	2.349722	0.41599	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.18338	2.22	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000243	T	0.13500	0.0327	N	0.13299	0.325	0.80722	D	1	B;B	0.21309	0.052;0.054	B;B	0.31812	0.127;0.136	T	0.14035	-1.0487	10	0.46703	T	0.11	.	15.22	0.73303	0.0:1.0:0.0:0.0	.	500;500	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	K	500	ENSP00000270001:R500K	ENSP00000270001:R500K	R	-	2	0	ZFP14	41523069	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.471000	0.22100	2.177000	0.69029	0.551000	0.68910	AGA	ZFP14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	C	NM_020917		36831229	-1	no_errors	ENST00000270001	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36831229	C	T	36831229	3	4	185	1	0	0	0	0	1	0	0	0	17669	913	32	1	106	1	ZFP14	19	36831229	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	236559	36831229	22297754	1444	35719										
ZNF566	84924	genome.wustl.edu	37	chr19	36964289	36964289	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acatctctgtataaatctctCtgatcatcattcaggcattc	4	11	6	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36964289C>T	ENST00000434377.2	-	3	162	c.81G>A	c.(79-81)caG>caA	p.Q27Q	ZNF566_ENST00000454319.1_Silent_p.Q27Q|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000424129.2_Silent_p.Q27Q|ZNF566_ENST00000392170.2_Silent_p.Q27Q|ZNF566_ENST00000472909.2_Intron	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ATAAATCTCTCTGATCATCAT	0.428																																																	0													164	150	155					19																	36964289		2203	4300	6503	SO:0001819	synonymous_variant	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.81G>A	19.37:g.36964289C>T			B7ZL95|Q2M3J1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q27	ENST00000434377.2	37	c.81	CCDS12494.1	19																																																																																			ZNF566	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.428	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	C	NM_032838		36964289	-1	no_errors	ENST00000392170	ensembl	human	known	70_37	silent	SNP	1.000	T	T	36964289	C	T	36964289	2	4	185	1	0	0	0	0	0	0	0	1	18027	912	32	1		1	ZNF566	19	36964289	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	133060	36964289	22164694	1445	35720			3	142		3	3	72	C		6.948888e-06
ZNF566	84924	genome.wustl.edu	37	chr19	36964342	36964342	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agagaagtctacggacacatCactgaacatcactgactcct	7	12	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36964342C>T	ENST00000434377.2	-	3	109	c.28G>A	c.(28-30)Gat>Aat	p.D10N	ZNF566_ENST00000454319.1_Missense_Mutation_p.D10N|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000424129.2_Missense_Mutation_p.D10N|ZNF566_ENST00000392170.2_Missense_Mutation_p.D10N|ZNF566_ENST00000472909.2_Intron	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ACGGACACATCACTGAACATC	0.378																																																	0													151	138	143					19																	36964342		2203	4300	6503	SO:0001583	missense	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.28G>A	19.37:g.36964342C>T	ENSP00000415520:p.Asp10Asn		B7ZL95|Q2M3J1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D10N	ENST00000434377.2	37	c.28	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420518	0.83559	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	4.61	4.61	0.57282	Krueppel-associated box (4);	0.000000	0.42964	D	0.000627	T	0.46014	0.1371	H	0.96604	3.85	0.31715	N	0.639031	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.996	T	0.67142	-0.5745	10	0.72032	D	0.01	.	12.8299	0.57740	0.0:1.0:0.0:0.0	.	10;10	B7ZL95;Q969W8	.;ZN566_HUMAN	N	10	ENSP00000394207:D10N;ENSP00000415520:D10N;ENSP00000376010:D10N;ENSP00000401259:D10N;ENSP00000411526:D10N;ENSP00000400651:D10N	ENSP00000376010:D10N	D	-	1	0	ZNF566	41656182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.402000	0.59722	2.390000	0.81377	0.650000	0.86243	GAT	ZNF566	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.378	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	C	NM_032838		36964342	-1	no_errors	ENST00000392170	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36964342	C	T	36964342	3	4	185	1	0	0	0	0	1	0	0	0	18027	826	29	1	1243	1	ZNF566	19	36964342	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	53	36964342	22164641	1446	35721			3	142		3	3	72	C		6.948888e-06
ZNF566	84924	genome.wustl.edu	37	chr19	36964360	36964360	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcactgaacatcactgactCctggaacaataaccacgtat	5	12	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:36964360C>T	ENST00000434377.2	-	3	91	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ZNF566_ENST00000454319.1_Splice_Site_p.E4K|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000424129.2_Splice_Site_p.E4K|ZNF566_ENST00000392170.2_Splice_Site_p.E4K|ZNF566_ENST00000472909.2_Intron	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ATCACTGACTCCTGGAACAAT	0.363																																																	0													128	119	122					19																	36964360		2203	4300	6503	SO:0001630	splice_region_variant	84924			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.10-1G>A	19.37:g.36964360C>T			B7ZL95|Q2M3J1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E4K	ENST00000434377.2	37	c.10	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	C	13.12	2.140949	0.37825	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59;5.59	4.89	4.89	0.63831	Krueppel-associated box (1);	0.178508	0.27219	N	0.020378	T	0.01222	0.0040	L	0.53671	1.685	0.28137	N	0.929979	P;P	0.37466	0.596;0.596	B;B	0.29785	0.107;0.107	T	0.50775	-0.8788	10	0.30854	T	0.27	.	13.4304	0.61051	0.0:1.0:0.0:0.0	.	4;4	B7ZL95;Q969W8	.;ZN566_HUMAN	K	4	ENSP00000394207:E4K;ENSP00000415520:E4K;ENSP00000376010:E4K;ENSP00000401259:E4K;ENSP00000411526:E4K;ENSP00000400651:E4K	ENSP00000376010:E4K	E	-	1	0	ZNF566	41656200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.996000	0.40776	2.537000	0.85549	0.650000	0.86243	GAG	ZNF566	-	superfamily_Krueppel-associated_box		0.363	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	C	NM_032838	Missense_Mutation	36964360	-1	no_errors	ENST00000392170	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36964360	C	T	36964360	5	4	185	1	0	0	0	0	0	0	1	0	18027	869	30	1	1261	1	ZNF566	19	36964360	Splice_Site	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	18	36964360	22164623	1447	35722			3	142		3	3	72	C		6.948888e-06
ZNF383	163087	genome.wustl.edu	37	chr19	37734225	37734225	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcagagaattcacactggtGagaaaccctatgattgtaag	9	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:37734225G>T	ENST00000589413.1	+	8	1670	c.1087G>T	c.(1087-1089)Gag>Tag	p.E363*	ZNF383_ENST00000590503.1_Nonsense_Mutation_p.E363*|ZNF383_ENST00000352998.3_Nonsense_Mutation_p.E363*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACTGGTGAGAAACCCTA	0.433																																																	0													64	66	65					19																	37734225		2203	4300	6503	SO:0001587	stop_gained	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1087G>T	19.37:g.37734225G>T	ENSP00000464871:p.Glu363*		Q6X2C7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E363*	ENST00000589413.1	37	c.1087	CCDS12501.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.826453	0.96996	.	.	ENSG00000188283	ENST00000352998	.	.	.	3.84	3.84	0.44239	.	0.000000	0.32258	N	0.006350	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.6439	0.62270	0.0:0.0:1.0:0.0	.	.	.	.	X	363	.	ENSP00000340132:E363X	E	+	1	0	ZNF383	42426065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.057000	0.71119	2.136000	0.66102	0.563000	0.77884	GAG	ZNF383	-	pfscan_Znf_C2H2		0.433	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	G	NM_152604		37734225	1	no_errors	ENST00000352998	ensembl	human	known	70_37	nonsense	SNP	0.998	T	T	37734225	G	T	37734225	4	4	185	1	0	0	0	0	0	1	0	0	17904	1291	45	3	1101	3	ZNF383	19	37734225	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	769865	37734225	21394758	1448	35723										
ZNF569	148266	genome.wustl.edu	37	chr19	37904387	37904387	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtaagggctgagctttgagaGaaggcttttccacactcatt	11	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:37904387G>C	ENST00000316950.6	-	6	1730	c.1173C>G	c.(1171-1173)ttC>ttG	p.F391L	ZNF569_ENST00000392149.2_Missense_Mutation_p.F391L|ZNF569_ENST00000392150.2_Missense_Mutation_p.F232L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCTTTGAGAGAAGGCTTTTC	0.388																																																	0													99	94	96					19																	37904387		2203	4300	6503	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1173C>G	19.37:g.37904387G>C	ENSP00000325018:p.Phe391Leu		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F391L	ENST00000316950.6	37	c.1173	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	G	15.60	2.883008	0.51908	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.46063	0.88;0.88	3.68	-0.811	0.10857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39475	N	0.001347	T	0.60830	0.2299	M	0.86805	2.84	0.34781	D	0.734706	D;P	0.53885	0.963;0.877	P;D	0.65684	0.876;0.937	T	0.68823	-0.5307	10	0.87932	D	0	.	8.3941	0.32546	0.4519:0.0:0.5481:0.0	.	232;391	Q17RR6;Q5MCW4	.;ZN569_HUMAN	L	391;47;232	ENSP00000325018:F391L;ENSP00000375993:F232L	ENSP00000325018:F391L	F	-	3	2	ZNF569	42596227	0.000000	0.05858	0.969000	0.41365	0.994000	0.84299	-0.294000	0.08309	-0.041000	0.13558	0.655000	0.94253	TTC	ZNF569	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	G	NM_152484		37904387	-1	no_errors	ENST00000316950	ensembl	human	known	70_37	missense	SNP	0.554	C	C	37904387	G	C	37904387	3	2	185	1	0	0	0	0	1	0	0	0	18030	933	33	1	891	1	ZNF569	19	37904387	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	170162	37904387	21224596	1449	35724										
ZNF569	148266	genome.wustl.edu	37	chr19	37905078	37905078	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tatattcacaatgctcctttCtcataaggcatttcacatta	3	10	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:37905078C>G	ENST00000316950.6	-	6	1039	c.482G>C	c.(481-483)aGa>aCa	p.R161T	ZNF569_ENST00000392149.2_Missense_Mutation_p.R161T|ZNF569_ENST00000392150.2_Missense_Mutation_p.R2T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGCTCCTTTCTCATAAGGCA	0.338																																																	0													85	82	83					19																	37905078		2203	4300	6503	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.482G>C	19.37:g.37905078C>G	ENSP00000325018:p.Arg161Thr		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R161T	ENST00000316950.6	37	c.482	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	C	0.491	-0.875583	0.02550	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.08896	3.22;3.04	3.37	-0.495	0.12030	.	0.980801	0.08257	N	0.973596	T	0.07143	0.0181	L	0.38175	1.15	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.10450	0.005;0.003	T	0.40440	-0.9563	10	0.45353	T	0.12	.	6.2635	0.20913	0.0:0.5124:0.3759:0.1118	.	2;161	Q17RR6;Q5MCW4	.;ZN569_HUMAN	T	161;2	ENSP00000325018:R161T;ENSP00000375993:R2T	ENSP00000325018:R161T	R	-	2	0	ZNF569	42596918	0.001000	0.12720	0.007000	0.13788	0.897000	0.52465	0.116000	0.15561	-0.072000	0.12864	0.591000	0.81541	AGA	ZNF569	-	NULL		0.338	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	C	NM_152484		37905078	-1	no_errors	ENST00000316950	ensembl	human	known	70_37	missense	SNP	0.138	G	G	37905078	C	G	37905078	3	3	185	1	0	0	0	0	1	0	0	0	18030	913	32	1	1582	1	ZNF569	19	37905078	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	691	37905078	21223905	1450	35725										
RASGRP4	115727	genome.wustl.edu	37	chr19	38905556	38905556	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccttggagggccaccagctCctgcagccgcaggtagaggt	14	14	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:38905556C>G	ENST00000587738.1	-	9	1232	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	RASGRP4_ENST00000454404.2_Missense_Mutation_p.E354Q|RASGRP4_ENST00000433821.2_Intron|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000587753.1_Splice_Site_p.E319Q|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E291Q|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E374Q			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	388	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCACCAGCTCCTGCAGCCGC	0.672																																																	0													17	23	21					19																	38905556		2028	4168	6196	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1162G>C	19.37:g.38905556C>G	ENSP00000465772:p.Glu388Gln		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.E388Q	ENST00000587738.1	37	c.1162	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434892	0.83885	.	.	ENSG00000171777	ENST00000293062;ENST00000405332;ENST00000454404	T	0.31769	1.48	4.96	4.96	0.65561	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.152745	0.56097	D	0.000022	T	0.53802	0.1819	M	0.67397	2.05	0.40483	D	0.98046	P;D;P;D;D	0.89917	0.879;0.999;0.847;1.0;0.999	P;D;P;D;D	0.80764	0.772;0.994;0.781;0.994;0.994	T	0.57021	-0.7882	10	0.62326	D	0.03	-17.8952	15.7444	0.77926	0.0:1.0:0.0:0.0	.	291;354;319;374;388	C0LTP7;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;GRP4_HUMAN	Q	291;388;388	ENSP00000293062:E291Q	ENSP00000293062:E291Q	E	-	1	0	RASGRP4	43597396	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.209000	0.77916	2.564000	0.86499	0.561000	0.74099	GAG	RASGRP4	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.672	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	C	NM_170604		38905556	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38905556	C	G	38905556	3	3	185	1	0	0	0	0	1	0	0	0	13107	869	30	1	895	1	RASGRP4	19	38905556	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1000478	38905556	20223427	1451	35726										
RYR1	6261	genome.wustl.edu	37	chr19	39056336	39056336	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccgaaggggctggcggtctCggggacatgggggacacgac	19	11	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39056336C>T	ENST00000359596.3	+	91	13362	c.13362C>T	c.(13360-13362)ctC>ctT	p.L4454L	RYR1_ENST00000360985.3_Silent_p.L4449L|RYR1_ENST00000355481.4_Silent_p.L4449L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4454					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGGCGGTCTCGGGGACATGG	0.726																																																	0													2	2	2					19																	39056336		1346	2829	4175	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13362C>T	19.37:g.39056336C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L4454	ENST00000359596.3	37	c.13362	CCDS33011.1	19																																																																																			RYR1	-	pfam_Ryanrecept_TM4-6		0.726	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			39056336	1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.999	T	T	39056336	C	T	39056336	2	4	185	1	0	0	0	0	0	0	0	1	13798	871	31	1		1	RYR1	19	39056336	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	150780	39056336	20072647	1452	35727										
RYR1	6261	genome.wustl.edu	37	chr19	39063865	39063865	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggagctggcccggaagctgGagtttgatggcctgtacatc	15	9	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39063865G>C	ENST00000359596.3	+	96	14047	c.14047G>C	c.(14047-14049)Gag>Cag	p.E4683Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E4678Q|RYR1_ENST00000355481.4_Missense_Mutation_p.E4678Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4683					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCGGAAGCTGGAGTTTGATGG	0.617																																																	0													106	91	96					19																	39063865		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14047G>C	19.37:g.39063865G>C	ENSP00000352608:p.Glu4683Gln		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E4683Q	ENST00000359596.3	37	c.14047	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883329	0.51908	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97553	-4.43;-4.42;-4.42	4.52	4.52	0.55395	.	0.000000	0.64402	U	0.000002	D	0.98394	0.9466	M	0.83774	2.66	0.54753	D	0.999989	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.986	D	0.99457	1.0942	10	0.72032	D	0.01	.	17.0169	0.86422	0.0:0.0:1.0:0.0	.	4678;4683	P21817-2;P21817	.;RYR1_HUMAN	Q	4683;4678;4678	ENSP00000352608:E4683Q;ENSP00000347667:E4678Q;ENSP00000354254:E4678Q	ENSP00000347667:E4678Q	E	+	1	0	RYR1	43755705	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.456000	0.97628	2.356000	0.79943	0.462000	0.41574	GAG	RYR1	-	NULL		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			39063865	1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39063865	G	C	39063865	3	2	185	1	0	0	0	0	1	0	0	0	13798	1175	41	1	14429	1	RYR1	19	39063865	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7529	39063865	20065118	1453	35728										
PAK4	10298	genome.wustl.edu	37	chr19	39664289	39664289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccccagtcctcctcctcctCctcccggcctcccacccgag	5	26	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39664289C>T	ENST00000593690.1	+	6	1164	c.737C>T	c.(736-738)tCc>tTc	p.S246F	PAK4_ENST00000358301.3_Missense_Mutation_p.S246F|PAK4_ENST00000435673.2_Missense_Mutation_p.S246F|PAK4_ENST00000321944.4_Missense_Mutation_p.S156F|PAK4_ENST00000599470.1_Missense_Mutation_p.S93F|PAK4_ENST00000360442.3_Missense_Mutation_p.S246F|PAK4_ENST00000599386.1_Missense_Mutation_p.S93F	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	246	Linker.|Poly-Ser.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TCCTCCTCCTCCTCCCGGCCT	0.716																																																	0													8	10	10					19																	39664289		2091	4153	6244	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.737C>T	19.37:g.39664289C>T	ENSP00000469413:p.Ser246Phe		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.S246F	ENST00000593690.1	37	c.737	CCDS12528.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.408|6.408	0.443413|0.443413	0.12164|0.12164	.|.	.|.	ENSG00000130669|ENSG00000130669	ENST00000542377|ENST00000358301;ENST00000321944;ENST00000358801;ENST00000435673;ENST00000360442	.|T;T;T;T	.|0.72942	.|-0.7;0.82;-0.7;-0.7	3.92|3.92	2.82|2.82	0.32997|0.32997	.|.	.|1.175920	.|0.06196	.|N	.|0.682367	T|T	0.78444|0.78444	0.4284|0.4284	L|L	0.43152|0.43152	1.355|1.355	0.34611|0.34611	D|D	0.717585|0.717585	.|D;B;B	.|0.64830	.|0.994;0.032;0.047	.|D;B;B	.|0.65010	.|0.931;0.015;0.011	T|T	0.75320|0.75320	-0.3359|-0.3359	6|10	0.16420|0.62326	T|D	0.52|0.03	.|.	11.2125|11.2125	0.48806|0.48806	0.0:0.7965:0.2035:0.0|0.0:0.7965:0.2035:0.0	.|.	.|156;93;246	.|O96013-4;O96013-3;O96013	.|.;.;PAK4_HUMAN	S|F	22|246;93;50;246;246	.|ENSP00000351049:S246F;ENSP00000326864:S93F;ENSP00000392753:S246F;ENSP00000353625:S246F	ENSP00000443258:P22S|ENSP00000326864:S93F	P|S	+|+	1|2	0|0	PAK4|PAK4	44356129|44356129	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.136000|0.136000	0.21042|0.21042	1.096000|1.096000	0.30976|0.30976	2.024000|2.024000	0.59613|0.59613	0.555000|0.555000	0.69702|0.69702	CCT|TCC	PAK4	-	NULL		0.716	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	C			39664289	1	no_errors	ENST00000358301	ensembl	human	known	70_37	missense	SNP	0.992	T	T	39664289	C	T	39664289	3	4	185	1	0	0	0	0	1	0	0	0	11427	855	30	1	747	1	PAK4	19	39664289	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	600424	39664289	19464694	1454	35729										
MED29	55588	genome.wustl.edu	37	chr19	39883109	39883109	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttttgttttgactagaccttGatgaaggttgcggcccaaaa	10	7	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39883109G>C	ENST00000599213.2	+	2	249	c.222G>C	c.(220-222)ttG>ttC	p.L74F	PAF1_ENST00000221266.7_5'Flank|PAF1_ENST00000221265.3_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.L74F|MED29_ENST00000315588.5_Missense_Mutation_p.L95F|PAF1_ENST00000595564.1_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29	74	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACTAGACCTTGATGAAGGTTG	0.433																																																	0													112	109	110					19																	39883109		2203	4300	6503	SO:0001583	missense	55588			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.222G>C	19.37:g.39883109G>C	ENSP00000471802:p.Leu74Phe		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	pfam_Mediator_Med29_met	p.L95F	ENST00000599213.2	37	c.285		19	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997944	0.54147	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.43	3.39	0.38822	.	0.164727	0.39020	N	0.001494	T	0.58921	0.2156	L	0.44542	1.39	0.37756	D	0.926157	D;D	0.89917	1.0;0.993	D;D	0.77557	0.99;0.94	T	0.62520	-0.6837	9	0.62326	D	0.03	-26.1584	5.7893	0.18351	0.1059:0.1989:0.6952:0.0	.	74;95	Q9NX70;B4DUA7	MED29_HUMAN;.	F	95;13	.	ENSP00000314343:L95F	L	+	3	2	MED29	44574949	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.293000	0.33353	1.062000	0.40625	0.563000	0.77884	TTG	MED29	-	pfam_Mediator_Med29_met		0.433	MED29-011	KNOWN	basic|appris_candidate	protein_coding	MED29	HGNC	protein_coding	OTTHUMT00000470870.1	G	XM_290829		39883109	1	no_errors	ENST00000315588	ensembl	human	known	70_37	missense	SNP	1.000	C	C	39883109	G	C	39883109	3	2	185	1	0	0	0	0	1	0	0	0	9470	1281	45	1	291	1	MED29	19	39883109	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	218820	39883109	19245874	1455	35730										
MED29	55588	genome.wustl.edu	37	chr19	39884192	39884192	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccttttttccttgtctgtaGaaagagcagtgatggaccca	9	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39884192G>C	ENST00000599213.2	+	3	302		c.e3-1		PAF1_ENST00000221266.7_5'Flank|PAF1_ENST00000221265.3_5'Flank|MED29_ENST00000594368.1_Splice_Site|MED29_ENST00000315588.5_Splice_Site|PAF1_ENST00000595564.1_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTGTCTGTAGAAAGAGCAGT	0.473																																																	0													170	171	170					19																	39884192		2203	4300	6503	SO:0001630	splice_region_variant	55588			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.276-1G>C	19.37:g.39884192G>C			B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Splice_Site	SNP	-	e3-1	ENST00000599213.2	37	c.339-1		19	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943457	0.53079	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4916	0.67654	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED29	44576032	1.000000	0.71417	0.997000	0.53966	0.613000	0.37349	9.174000	0.94824	2.261000	0.74972	0.558000	0.71614	.	MED29	-	-		0.473	MED29-011	KNOWN	basic|appris_candidate	protein_coding	MED29	HGNC	protein_coding	OTTHUMT00000470870.1	G	XM_290829	Intron	39884192	1	no_errors	ENST00000315588	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	39884192	G	C	39884192	5	2	185	1	0	0	0	0	0	0	1	0	9470	956	33	1	348	1	MED29	19	39884192	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1083	39884192	19244791	1456	35731										
ZFP36	7538	genome.wustl.edu	37	chr19	39898893	39898893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggcggccccgggccaccctCctgtgcttcgccagagcatc	12	18	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39898893C>T	ENST00000248673.3	+	2	593	c.535C>T	c.(535-537)Cct>Tct	p.P179S	ZFP36_ENST00000597629.1_Missense_Mutation_p.P185S|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	179					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGCCACCCTCCTGTGCTTCG	0.677																																					NSCLC(67;1164 1324 12056 21056 30097)												0													58	70	66					19																	39898893		2203	4299	6502	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.535C>T	19.37:g.39898893C>T	ENSP00000248673:p.Pro179Ser		B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P185S	ENST00000248673.3	37	c.553		19	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968846	0.53614	.	.	ENSG00000128016	ENST00000248673	T	0.23348	1.91	4.35	4.35	0.52113	.	0.295756	0.31601	N	0.007366	T	0.15739	0.0379	N	0.22421	0.69	0.27937	N	0.93764	B	0.31318	0.319	B	0.28916	0.096	T	0.10474	-1.0628	10	0.09338	T	0.73	-3.0222	14.448	0.67364	0.0:1.0:0.0:0.0	.	179	P26651	TTP_HUMAN	S	179	ENSP00000248673:P179S	ENSP00000248673:P179S	P	+	1	0	ZFP36	44590733	0.096000	0.21769	0.713000	0.30519	0.790000	0.44656	3.384000	0.52478	2.280000	0.76307	0.442000	0.29010	CCT	ZFP36	-	NULL		0.677	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		C			39898893	1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.902	T	T	39898893	C	T	39898893	3	4	185	1	0	0	0	0	1	0	0	0	17675	855	30	1	541	1	ZFP36	19	39898893	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	14701	39898893	19230090	1457	35732										
SUPT5H	6829	genome.wustl.edu	37	chr19	39962366	39962366	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctggtgctggctgggggctCaaaggtgaggtgggcatggc	20	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:39962366C>G	ENST00000599117.1	+	21	2313	c.1946C>G	c.(1945-1947)tCa>tGa	p.S649*	SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.S649*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.S645*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.S645*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.S649*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	649					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTGGGGGCTCAAAGGTGAGG	0.587																																																	0													35	38	37					19																	39962366		2203	4300	6503	SO:0001587	stop_gained	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1946C>G	19.37:g.39962366C>G	ENSP00000470252:p.Ser649*		O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.S649*	ENST00000599117.1	37	c.1946	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.683392	0.98431	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.25	3.14	0.36123	.	0.054961	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2906	10.5085	0.44847	0.0:0.8394:0.0:0.1606	.	.	.	.	X	649;645;627;649	.	.	S	+	2	0	SUPT5H	44654206	1.000000	0.71417	0.785000	0.31869	0.648000	0.38561	4.716000	0.61916	0.593000	0.29745	-0.346000	0.07831	TCA	SUPT5H	-	pirsf_TF_Spt5		0.587	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	C	NM_003169		39962366	1	no_errors	ENST00000432763	ensembl	human	known	70_37	nonsense	SNP	0.997	G	G	39962366	C	G	39962366	4	3	185	1	0	0	0	0	0	1	0	0	15429	838	29	1	2020	1	SUPT5H	19	39962366	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	63473	39962366	19166617	1458	35733										
HNRNPUL1	11100	genome.wustl.edu	37	chr19	41778084	41778084	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagcaattccagagtcgaaaGaggccttatgaagaaaaccg	10	9	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:41778084G>C	ENST00000392006.3	+	3	689	c.516G>C	c.(514-516)aaG>aaC	p.K172N	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.K72N|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.K83N|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.K72N|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.K129N|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.K72N|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.K172N	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	172					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAGTCGAAAGAGGCCTTATG	0.532																																																	0													131	146	141					19																	41778084		2203	4300	6503	SO:0001583	missense	11100			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.516G>C	19.37:g.41778084G>C	ENSP00000375863:p.Lys172Asn		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.K172N	ENST00000392006.3	37	c.516	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555921	0.86231	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;D;T;D	0.91894	0.6;-2.93;1.24;-2.88	6.08	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.94387	0.8195	L	0.58510	1.815	0.37231	D	0.905681	D;D;D;D;D;D	0.76494	0.979;0.962;0.998;0.999;0.995;0.988	P;P;D;D;P;P	0.80764	0.841;0.824;0.952;0.994;0.897;0.891	D	0.94905	0.8060	10	0.66056	D	0.02	-24.9568	11.9862	0.53149	0.1334:0.0:0.8666:0.0	.	83;72;172;129;172;72	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	N	72;172;129;83	ENSP00000340857:K72N;ENSP00000375863:K172N;ENSP00000367460:K129N;ENSP00000263367:K83N	ENSP00000263367:K83N	K	+	3	2	HNRNPUL1	46469924	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.516000	0.45520	2.894000	0.99253	0.591000	0.81541	AAG	HNRNPUL1	-	NULL		0.532	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	G	NM_144732, NM_007040		41778084	1	no_errors	ENST00000392006	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41778084	G	C	41778084	3	2	185	1	0	0	0	0	1	0	0	0	7294	933	33	1	526	1	HNRNPUL1	19	41778084	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1815718	41778084	17350899	1459	35734										
RPS19	6223	genome.wustl.edu	37	chr19	42364871	42364871	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggagttactgtaaaagacgtGaaccagcaggagttcgtcag	13	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42364871G>C	ENST00000598742.1	+	2	399	c.27G>C	c.(25-27)gtG>gtC	p.V9V	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Silent_p.V9V	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	9			Missing (in DBA1).		cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						TAAAAGACGTGAACCAGCAGG	0.557									Diamond-Blackfan Anemia																																								0			GRCh37	CD045255	RPS19	D							142	142	142					19																	42364871		2203	4300	6503	SO:0001819	synonymous_variant	6223	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"S ribosomal proteins"	10402	protein-coding gene	gene with protein product	"Diamond-Blackfan anemia"	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.27G>C	19.37:g.42364871G>C				Silent	SNP	pfam_Ribosomal_S19e	p.V9	ENST00000598742.1	37	c.27	CCDS12588.1	19																																																																																			RPS19	-	pfam_Ribosomal_S19e		0.557	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1	G	NM_001022		42364871	1	no_errors	ENST00000593863	ensembl	human	known	70_37	silent	SNP	0.998	C	C	42364871	G	C	42364871	2	2	185	1	0	0	0	0	0	0	0	1	13659	1277	45	1		1	RPS19	19	42364871	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	586787	42364871	16764112	1460	35735										
CIC	23152	genome.wustl.edu	37	chr19	42791223	42791223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggacagggagtgctgaccctGagcggccccctggagccaca	15	14	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42791223G>C	ENST00000575354.2	+	3	323	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	CIC_ENST00000572681.2_Missense_Mutation_p.E1004Q|CIC_ENST00000160740.3_Missense_Mutation_p.E95Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	95	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			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)				TGCTGACCCTGAGCGGCCCCC	0.652			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													44	54	51					19																	42791223		2202	4293	6495	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.283G>C	19.37:g.42791223G>C	ENSP00000458663:p.Glu95Gln		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E95Q	ENST00000575354.2	37	c.283	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917673	0.33815	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	T	0.36193	0.0958	N	0.19112	0.55	0.21675	N	0.999597	B	0.17268	0.021	B	0.14578	0.011	T	0.34700	-0.9818	8	0.87932	D	0	-6.1539	14.3509	0.66702	0.0:0.0:1.0:0.0	.	95	Q96RK0	CIC_HUMAN	Q	95	.	ENSP00000160740:E95Q	E	+	1	0	CIC	47483063	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	4.270000	0.58896	2.238000	0.73509	0.485000	0.47835	GAG	CIC	-	NULL		0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42791223	1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42791223	G	C	42791223	3	2	185	1	0	0	0	0	1	0	0	0	3429	1291	45	1	293	1	CIC	19	42791223	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	426352	42791223	16337760	1461	35736										
TMEM145	284339	genome.wustl.edu	37	chr19	42821049	42821049	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcagccacgcgggctccgtGaagttgtctgtctacatgac	11	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42821049G>A	ENST00000301204.3	+	11	875	c.834G>A	c.(832-834)gtG>gtA	p.V278V	TMEM145_ENST00000598766.1_Silent_p.V302V	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	278					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGGCTCCGTGAAGTTGTCTG	0.672																																																	0													50	41	44					19																	42821049		2203	4300	6503	SO:0001819	synonymous_variant	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.834G>A	19.37:g.42821049G>A				Silent	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.V278	ENST00000301204.3	37	c.834	CCDS12603.1	19																																																																																			TMEM145	-	pfam_Rhodopsin-like_GPCR_TM_domain		0.672	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	G	NM_173633		42821049	1	no_errors	ENST00000301204	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42821049	G	A	42821049	2	1	185	1	0	0	0	0	0	0	0	1	16089	1277	45	1		1	TMEM145	19	42821049	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	29826	42821049	16307934	1462	35737										
TMEM145	284339	genome.wustl.edu	37	chr19	42821970	42821970	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgctatgctgtgcttgtctCactgcgacactttcctgaga	9	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42821970C>G	ENST00000301204.3	+	12	1051	c.1010C>G	c.(1009-1011)tCa>tGa	p.S337*	TMEM145_ENST00000598766.1_Nonsense_Mutation_p.S361*	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	337					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTGCTTGTCTCACTGCGACAC	0.587																																																	0													202	159	174					19																	42821970		2203	4300	6503	SO:0001587	stop_gained	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1010C>G	19.37:g.42821970C>G	ENSP00000301204:p.Ser337*			Nonsense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.S337*	ENST00000301204.3	37	c.1010	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.657142	0.96724	.	.	ENSG00000167619	ENST00000301204	.	.	.	4.55	4.55	0.56014	.	0.596733	0.15806	N	0.243753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-31.1918	15.1796	0.72945	0.0:1.0:0.0:0.0	.	.	.	.	X	337	.	ENSP00000301204:S337X	S	+	2	0	TMEM145	47513810	1.000000	0.71417	0.996000	0.52242	0.843000	0.47879	6.277000	0.72608	2.258000	0.74832	0.591000	0.81541	TCA	TMEM145	-	pfam_Rhodopsin-like_GPCR_TM_domain		0.587	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	C	NM_173633		42821970	1	no_errors	ENST00000301204	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	42821970	C	G	42821970	4	3	185	1	0	0	0	0	0	1	0	0	16089	838	29	1	1056	1	TMEM145	19	42821970	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	921	42821970	16307013	1463	35738										
LIPE	3991	genome.wustl.edu	37	chr19	42931144	42931144	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggtgaggggtctttggtttGaagcaggcttctgttgggta	18	4	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:42931144G>A	ENST00000244289.4	-	1	434	c.158C>T	c.(157-159)tCa>tTa	p.S53L	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	53					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTTTGGTTTGAAGCAGGCTT	0.527																																																	0													137	135	136					19																	42931144		2203	4300	6503	SO:0001583	missense	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.158C>T	19.37:g.42931144G>A	ENSP00000244289:p.Ser53Leu		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.S53L	ENST00000244289.4	37	c.158	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	G	3.251	-0.153264	0.06585	.	.	ENSG00000079435	ENST00000244289	T	0.23348	1.91	4.48	1.14	0.20703	.	1.901940	0.03084	N	0.158932	T	0.20292	0.0488	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30592	-0.9973	10	0.59425	D	0.04	-0.6562	8.1276	0.31008	0.2745:0.0:0.7255:0.0	.	53	Q05469	LIPS_HUMAN	L	53	ENSP00000244289:S53L	ENSP00000244289:S53L	S	-	2	0	LIPE	47622984	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.663000	0.25053	0.239000	0.21243	0.563000	0.77884	TCA	LIPE	-	NULL		0.527	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1	G	NM_005357		42931144	-1	no_errors	ENST00000244289	ensembl	human	known	70_37	missense	SNP	0.001	A	A	42931144	G	A	42931144	3	1	185	1	0	0	0	0	1	0	0	0	8842	1294	45	1	3112	1	LIPE	19	42931144	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	109174	42931144	16197839	1464	35739										
PSG8	440533	genome.wustl.edu	37	chr19	43268273	43268273	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tatgatgtaatgtaatggtaGaggtccctgatttgcccttt	10	6	0	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:43268273G>A	ENST00000306511.4	-	2	322	c.225C>T	c.(223-225)ctC>ctT	p.L75L	PSG8_ENST00000404209.4_Silent_p.L75L|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Silent_p.L75L	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	75	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTAATGGTAGAGGTCCCTGA	0.418																																																	0													190	207	201					19																	43268273		2203	4296	6499	SO:0001819	synonymous_variant	440533			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.225C>T	19.37:g.43268273G>A			A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L75	ENST00000306511.4	37	c.225	CCDS33037.1	19																																																																																			PSG8	-	pfam_Ig_V-set,smart_Ig_sub		0.418	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	G			43268273	-1	no_errors	ENST00000306511	ensembl	human	known	70_37	silent	SNP	0.000	A	A	43268273	G	A	43268273	2	1	185	1	0	0	0	0	0	0	0	1	12688	929	33	1		1	PSG8	19	43268273	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	337129	43268273	15860710	1465	35740										
XRCC1	7515	genome.wustl.edu	37	chr19	44047769	44047769	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctctttggtactcacctcctCaaagctgggatcccattcct	6	15	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44047769C>G	ENST00000262887.5	-	16	2330	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	XRCC1_ENST00000543982.1_Missense_Mutation_p.E564Q			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	595	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CTCACCTCCTCAAAGCTGGGA	0.552								Other BER factors																																									0													169	160	163					19																	44047769		2203	4300	6503	SO:0001583	missense	7515			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1783G>C	19.37:g.44047769C>G	ENSP00000262887:p.Glu595Gln		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.E595Q	ENST00000262887.5	37	c.1783	CCDS12624.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156637	0.78114	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	T;T	0.80738	-1.41;-1.41	5.17	5.17	0.71159	BRCT (4);	0.056916	0.64402	D	0.000002	D	0.84442	0.5473	L	0.54323	1.7	0.47994	D	0.999565	D;D	0.67145	0.988;0.996	P;P	0.59595	0.722;0.86	T	0.82238	-0.0556	10	0.30854	T	0.27	-33.6512	14.5959	0.68407	0.0:1.0:0.0:0.0	.	564;595	F5H8D7;P18887	.;XRCC1_HUMAN	Q	609;595;564	ENSP00000262887:E595Q;ENSP00000443671:E564Q	ENSP00000262887:E595Q	E	-	1	0	XRCC1	48739609	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.246000	0.58740	2.614000	0.88457	0.549000	0.68633	GAG	XRCC1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.552	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	C	NM_006297		44047769	-1	no_errors	ENST00000262887	ensembl	human	known	70_37	missense	SNP	1.000	G	G	44047769	C	G	44047769	3	3	185	1	0	0	0	0	1	0	0	0	17483	835	29	1	126	1	XRCC1	19	44047769	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	779496	44047769	15081214	1466	35741										
IRGQ	126298	genome.wustl.edu	37	chr19	44099376	44099376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccggagtccggccgtccctCgggggcctcgagcgtctcca	14	18	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44099376C>T	ENST00000602269.1	-	1	300	c.115G>A	c.(115-117)Gag>Aag	p.E39K	IRGQ_ENST00000422989.1_Missense_Mutation_p.E39K|IRGQ_ENST00000601520.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	39										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGCCGTCCCTCGGGGGCCTCG	0.716																																																	0													14	16	15					19																	44099376		2152	4193	6345	SO:0001583	missense	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.115G>A	19.37:g.44099376C>T	ENSP00000472250:p.Glu39Lys		B2RNP3	Missense_Mutation	SNP	NULL	p.E39K	ENST00000602269.1	37	c.115	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856013	0.51376	.	.	ENSG00000167378	ENST00000422989	T	0.49720	0.77	3.43	3.43	0.39272	.	1.390010	0.04892	N	0.449752	T	0.29458	0.0734	N	0.14661	0.345	0.09310	N	0.999999	P	0.47106	0.89	B	0.32090	0.14	T	0.27706	-1.0066	10	0.56958	D	0.05	-7.4873	10.6783	0.45799	0.0:1.0:0.0:0.0	.	39	Q8WZA9	IRGQ_HUMAN	K	39	ENSP00000387535:E39K	ENSP00000387535:E39K	E	-	1	0	IRGQ	48791216	0.980000	0.34600	0.494000	0.27515	0.544000	0.35116	1.314000	0.33597	2.207000	0.71202	0.655000	0.94253	GAG	IRGQ	-	NULL		0.716	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	C	NM_001007561		44099376	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	missense	SNP	0.258	T	T	44099376	C	T	44099376	3	4	185	1	0	0	0	0	1	0	0	0	7859	893	31	1	1764	1	IRGQ	19	44099376	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	51607	44099376	15029607	1467	35742										
IRGC	56269	genome.wustl.edu	37	chr19	44222731	44222731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atggctacttcaaagttgccCgtggtgcctggggaggagga	16	8	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44222731C>T	ENST00000244314.5	+	2	220	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	7						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAAAGTTGCCCGTGGTGCCTG	0.627																																					Colon(189;350 2037 11447 13433 38914)												0													73	76	75					19																	44222731		2203	4300	6503	SO:0001819	synonymous_variant	56269			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.21C>T	19.37:g.44222731C>T			Q05BR8	Silent	SNP	pfam_Interferon-induced_GTPase	p.P7	ENST00000244314.5	37	c.21	CCDS12629.1	19																																																																																			IRGC	-	NULL		0.627	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1	C	NM_019612		44222731	1	no_errors	ENST00000244314	ensembl	human	known	70_37	silent	SNP	0.000	T	T	44222731	C	T	44222731	2	4	185	1	0	0	0	0	0	0	0	1	7858	639	23	2		2	IRGC	19	44222731	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	123355	44222731	14906252	1468	35743										
LYPD5	284348	genome.wustl.edu	37	chr19	44302734	44302734	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcgtagcactcggcgccgctGagcgtcggcgggtcgggtgc	19	13	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44302734G>A	ENST00000377950.3	-	4	470	c.390C>T	c.(388-390)ctC>ctT	p.L130L	LYPD5_ENST00000414615.2_Silent_p.L87L|LYPD5_ENST00000594013.1_Silent_p.L87L|AC115522.3_ENST00000595680.1_lincRNA	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	130						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				CGGCGCCGCTGAGCGTCGGCG	0.677																																																	0													56	51	53					19																	44302734		2203	4300	6503	SO:0001819	synonymous_variant	284348			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.390C>T	19.37:g.44302734G>A			Q6PEX9|Q96DR2	Silent	SNP	pfam_LY6_UPAR	p.L130	ENST00000377950.3	37	c.390	CCDS46096.1	19																																																																																			LYPD5	-	NULL		0.677	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD5	HGNC	protein_coding	OTTHUMT00000463611.1	G	NM_182573		44302734	-1	no_errors	ENST00000377950	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44302734	G	A	44302734	2	1	185	1	0	0	0	0	0	0	0	1	9136	1277	45	1		1	LYPD5	19	44302734	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	80003	44302734	14826249	1469	35744										
ZNF221	7638	genome.wustl.edu	37	chr19	44471050	44471050	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ataaaaggaggttggatcttGagtttcaccagagggtccac	12	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:44471050G>C	ENST00000251269.5	+	6	1724	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	ZNF221_ENST00000592350.1_Missense_Mutation_p.E466Q|ZNF221_ENST00000587682.1_Missense_Mutation_p.E466Q	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GTTGGATCTTGAGTTTCACCA	0.458																																																	0													74	70	71					19																	44471050		2203	4300	6503	SO:0001583	missense	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1396G>C	19.37:g.44471050G>C	ENSP00000251269:p.Glu466Gln		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E466Q	ENST00000251269.5	37	c.1396	CCDS12633.1	19	.	.	.	.	.	.	.	.	.	.	g	12.45	1.941318	0.34283	.	.	ENSG00000159905	ENST00000251269	T	0.17528	2.27	2.63	-5.25	0.02781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	N	0.00569	-1.365	0.09310	N	1	P	0.37141	0.584	B	0.41135	0.348	T	0.25467	-1.0131	9	0.26408	T	0.33	.	1.7552	0.02980	0.3043:0.2884:0.2932:0.114	.	466	Q9UK13	ZN221_HUMAN	Q	466	ENSP00000251269:E466Q	ENSP00000251269:E466Q	E	+	1	0	ZNF221	49162890	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-6.567000	0.00061	-1.648000	0.01510	0.313000	0.20887	GAG	ZNF221	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	HGNC	protein_coding	OTTHUMT00000460068.1	G			44471050	1	no_errors	ENST00000251269	ensembl	human	known	70_37	missense	SNP	0.000	C	C	44471050	G	C	44471050	3	2	185	1	0	0	0	0	1	0	0	0	17805	1291	45	1	1410	1	ZNF221	19	44471050	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	168316	44471050	14657933	1470	35745										
CBLC	23624	genome.wustl.edu	37	chr19	45295700	45295700	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agctctgcaagatctgtgctGagagcaacaaggatgtgaag	13	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:45295700G>A	ENST00000270279.3	+	7	1129	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	CBLC_ENST00000341505.4_Missense_Mutation_p.E310K	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	356	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GATCTGTGCTGAGAGCAACAA	0.612			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													95	83	87					19																	45295700		2203	4300	6503	SO:0001583	missense	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1066G>A	19.37:g.45295700G>A	ENSP00000270279:p.Glu356Lys		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.E356K	ENST00000270279.3	37	c.1066	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453463	0.63290	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.95622	-3.76;-3.76	4.13	4.13	0.48395	Zinc finger, RING-type (2);SH2 motif (1);Zinc finger, C3HC4 RING-type (1);	0.000000	0.43747	D	0.000528	D	0.96886	0.8983	M	0.66939	2.045	0.58432	D	0.999997	D;D	0.76494	0.999;0.996	D;D	0.70935	0.971;0.939	D	0.97158	0.9836	10	0.72032	D	0.01	-28.695	14.2805	0.66208	0.0:0.0:1.0:0.0	.	310;356	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	K	356;310	ENSP00000270279:E356K;ENSP00000340250:E310K	ENSP00000270279:E356K	E	+	1	0	CBLC	49987540	1.000000	0.71417	0.201000	0.23476	0.310000	0.27922	8.789000	0.91839	2.326000	0.78906	0.643000	0.83706	GAG	CBLC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.612	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	G	NM_012116		45295700	1	no_errors	ENST00000270279	ensembl	human	known	70_37	missense	SNP	0.997	A	A	45295700	G	A	45295700	3	1	185	1	0	0	0	0	1	0	0	0	2707	1291	45	1	1092	1	CBLC	19	45295700	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	824650	45295700	13833283	1471	35746										
SNRPD2	6633	genome.wustl.edu	37	chr19	46191815	46191815	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atctcactcttgggcttgttGaggaggctcctgcatggaca	12	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:46191815G>C	ENST00000342669.3	-	2	456	c.12C>G	c.(10-12)ctC>ctG	p.L4L	SNRPD2_ENST00000587367.1_5'UTR|SNRPD2_ENST00000588301.1_Silent_p.L4L|SNRPD2_ENST00000590212.1_Silent_p.L4L|SNRPD2_ENST00000391932.3_5'UTR|SNRPD2_ENST00000588599.1_5'UTR|SNRPD2_ENST00000585392.1_Intron	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	4					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TGGGCTTGTTGAGGAGGCTCC	0.542																																																	0													156	124	135					19																	46191815		2203	4300	6503	SO:0001819	synonymous_variant	6633				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"snRNP core protein D2"	601061	"small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.12C>G	19.37:g.46191815G>C			A8K797|J3KPM5|P43330	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.L4	ENST00000342669.3	37	c.12	CCDS33053.1	19																																																																																			SNRPD2	-	NULL		0.542	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	G	NM_004597		46191815	-1	no_errors	ENST00000342669	ensembl	human	known	70_37	silent	SNP	1.000	C	C	46191815	G	C	46191815	2	2	185	1	0	0	0	0	0	0	0	1	14895	1277	45	1		1	SNRPD2	19	46191815	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	896115	46191815	12937168	1472	35747										
DMWD	1762	genome.wustl.edu	37	chr19	46289752	46289752	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgtagcggccgtcagggctCcagcacacacacagcaggcc	12	16	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:46289752C>G	ENST00000270223.6	-	3	1047	c.1002G>C	c.(1000-1002)tgG>tgC	p.W334C	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.W334C|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	334										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGTCAGGGCTCCAGCACACAC	0.647																																																	0													60	62	61					19																	46289752		2203	4300	6503	SO:0001583	missense	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1002G>C	19.37:g.46289752C>G	ENSP00000270223:p.Trp334Cys			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W334C	ENST00000270223.6	37	c.1002	CCDS33054.1	19	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102900	0.56183	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.66280	-0.2;-0.2	3.81	2.77	0.32553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.162877	0.44097	D	0.000484	T	0.78641	0.4315	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.80032	-0.1552	10	0.87932	D	0	-14.0418	9.1988	0.37244	0.0:0.8903:0.0:0.1097	.	19;334;334	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	C	334	ENSP00000366964:W334C;ENSP00000270223:W334C	ENSP00000270223:W334C	W	-	3	0	DMWD	50981592	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.840000	0.69402	0.979000	0.38497	0.462000	0.41574	TGG	DMWD	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.647	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	HGNC	protein_coding	OTTHUMT00000402063.1	C	NM_004943		46289752	-1	no_errors	ENST00000270223	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46289752	C	G	46289752	3	3	185	1	0	0	0	0	1	0	0	0	4603	856	30	1	1034	1	DMWD	19	46289752	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	97937	46289752	12839231	1473	35748										
SYMPK	8189	genome.wustl.edu	37	chr19	46347300	46347300	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgacctaccatgcagagtttCataggcctggatcacctcag	9	12	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:46347300C>T	ENST00000245934.7	-	8	1079	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	279					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGCAGAGTTTCATAGGCCTGG	0.502																																																	0													91	79	83					19																	46347300		2203	4300	6503	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.835G>A	19.37:g.46347300C>T	ENSP00000245934:p.Glu279Lys		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.E279K	ENST00000245934.7	37	c.835	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756710	0.89843	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	L	0.32530	0.975	0.80722	D	1	P;P	0.43750	0.727;0.816	B;B	0.43251	0.254;0.413	T	0.42378	-0.9455	9	0.22706	T	0.39	.	17.1808	0.86854	0.0:1.0:0.0:0.0	.	294;279	Q4LE61;Q92797	.;SYMPK_HUMAN	K	279	.	ENSP00000245934:E279K	E	-	1	0	SYMPK	51039140	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.489000	0.66875	2.638000	0.89438	0.557000	0.71058	GAA	SYMPK	-	pfam_DUF3453,superfamily_ARM-type_fold		0.502	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46347300	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46347300	C	T	46347300	3	4	185	1	0	0	0	0	1	0	0	0	15469	835	29	1	3069	1	SYMPK	19	46347300	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	57548	46347300	12781683	1474	35749										
SLC1A5	6510	genome.wustl.edu	37	chr19	47282071	47282071	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgacccagcaggcagcacaGaatgtacttgccaaggcggg	14	11	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:47282071G>C	ENST00000542575.2	-	5	1547	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V	SLC1A5_ENST00000434726.2_Missense_Mutation_p.L105V|SLC1A5_ENST00000594991.1_Missense_Mutation_p.L131V|SLC1A5_ENST00000412532.2_Missense_Mutation_p.L79V	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	307					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	AGGCAGCACAGAATGTACTTG	0.577																																																	0													200	168	179					19																	47282071		2203	4300	6503	SO:0001583	missense	6510			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.919C>G	19.37:g.47282071G>C	ENSP00000444408:p.Leu307Val		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L307V	ENST00000542575.2	37	c.919	CCDS12692.1	19	.	.	.	.	.	.	.	.	.	.	G	0.988	-0.694861	0.03303	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.60171	0.21;0.21;0.21	4.53	-0.407	0.12385	.	0.468395	0.22080	N	0.064915	T	0.24275	0.0588	N	0.10645	0.015	0.26499	N	0.97481	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.15484	0.013;0.013;0.013	T	0.24835	-1.0149	10	0.02654	T	1	-25.286	4.2218	0.10561	0.3482:0.3173:0.3345:0.0	.	105;307;307	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	V	307;105;79;314	ENSP00000444408:L307V;ENSP00000406532:L105V;ENSP00000397924:L79V	ENSP00000303623:L314V	L	-	1	2	SLC1A5	51973911	0.964000	0.33143	0.998000	0.56505	0.871000	0.50021	0.282000	0.18829	0.246000	0.21394	0.561000	0.74099	CTG	SLC1A5	-	pfam_Na-dicarboxylate_symporter		0.577	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1	G			47282071	-1	no_errors	ENST00000542575	ensembl	human	known	70_37	missense	SNP	0.989	C	C	47282071	G	C	47282071	3	2	185	1	0	0	0	0	1	0	0	0	14465	933	33	1	722	1	SLC1A5	19	47282071	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	934771	47282071	11846912	1475	35750										
CRX	1406	genome.wustl.edu	37	chr19	48343087	48343087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtcccccacctccctatcaGgccagagctatggcgcctac	8	18	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:48343087G>A	ENST00000221996.7	+	4	969	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	CRX_ENST00000539067.1_Missense_Mutation_p.G255S|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	255					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTCCCTATCAGGCCAGAGCTA	0.632																																					Pancreas(57;461 1196 22201 40716 47188)												0													82	93	89					19																	48343087		2203	4299	6502	SO:0001583	missense	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.763G>A	19.37:g.48343087G>A	ENSP00000221996:p.Gly255Ser		Q0QD45	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G255S	ENST00000221996.7	37	c.763	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351553	0.24512	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.89485	-2.52;-2.52	3.75	2.71	0.32032	.	0.140342	0.47093	D	0.000258	T	0.72503	0.3468	N	0.10916	0.065	0.27476	N	0.952727	B	0.22346	0.068	B	0.15870	0.014	T	0.57429	-0.7813	10	0.02654	T	1	-11.0353	10.3616	0.43998	0.0:0.0:0.8021:0.1979	.	255	O43186	CRX_HUMAN	S	255	ENSP00000221996:G255S;ENSP00000445565:G255S	ENSP00000221996:G255S	G	+	1	0	CRX	53034899	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	2.630000	0.46494	0.792000	0.33850	-0.366000	0.07423	GGC	CRX	-	NULL		0.632	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	G	NM_000554		48343087	1	no_errors	ENST00000221996	ensembl	human	known	70_37	missense	SNP	0.992	A	A	48343087	G	A	48343087	3	1	185	1	0	0	0	0	1	0	0	0	3907	1000	35	4	773	4	CRX	19	48343087	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1061016	48343087	10785896	1476	35751										
PLEKHA4	57664	genome.wustl.edu	37	chr19	49362362	49362362	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acggggacgggggaggctcaGaggcgagggagggcgagaga	24	6	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49362362G>C	ENST00000263265.6	-	8	1282	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.L243V|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	243	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGAGGCTCAGAGGCGAGGGA	0.662																																																	0													3	4	3					19																	49362362		1848	3796	5644	SO:0001583	missense	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.727C>G	19.37:g.49362362G>C	ENSP00000263265:p.Leu243Val		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L243V	ENST00000263265.6	37	c.727	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	g	9.739	1.164393	0.21538	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.14022	2.99;2.54	4.78	2.63	0.31362	.	0.582213	0.15775	N	0.245226	T	0.07863	0.0197	N	0.19112	0.55	0.25650	N	0.986105	B;B	0.28055	0.143;0.199	B;B	0.32289	0.143;0.061	T	0.40327	-0.9569	10	0.13108	T	0.6	.	6.3305	0.21266	0.0934:0.0:0.7264:0.1802	.	243;243	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	V	243	ENSP00000263265:L243V;ENSP00000347683:L243V	ENSP00000263265:L243V	L	-	1	2	PLEKHA4	54054174	1.000000	0.71417	0.998000	0.56505	0.189000	0.23516	1.326000	0.33735	0.750000	0.32877	-0.372000	0.07161	CTG	PLEKHA4	-	NULL		0.662	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	G			49362362	-1	no_errors	ENST00000263265	ensembl	human	known	70_37	missense	SNP	0.997	C	C	49362362	G	C	49362362	3	2	185	1	0	0	0	0	1	0	0	0	12082	933	33	1	1664	1	PLEKHA4	19	49362362	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1019275	49362362	9766621	1477	35752										
PPFIA3	8541	genome.wustl.edu	37	chr19	49637098	49637098	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggagcggcttcggcagctgGaggcccagctggaagagaag	18	9	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49637098G>C	ENST00000334186.4	+	10	1556	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E403Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	403					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCGGCAGCTGGAGGCCCAGCT	0.602																																																	0													31	33	32					19																	49637098		2203	4300	6503	SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1207G>C	19.37:g.49637098G>C	ENSP00000335614:p.Glu403Gln		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E403Q	ENST00000334186.4	37	c.1207	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931137	0.92389	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.36520	1.25	4.01	4.01	0.46588	.	0.000000	0.45867	U	0.000330	T	0.61489	0.2351	M	0.80982	2.52	0.58432	D	0.999999	D;D;P	0.89917	1.0;0.997;0.935	D;D;P	0.91635	0.999;0.94;0.864	T	0.66976	-0.5787	10	0.51188	T	0.08	-19.1833	15.2798	0.73773	0.0:0.0:1.0:0.0	.	327;403;403	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	Q	403;327	ENSP00000335614:E403Q	ENSP00000335614:E403Q	E	+	1	0	PPFIA3	54328910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	1.948000	0.56530	0.655000	0.94253	GAG	PPFIA3	-	NULL		0.602	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	G	NM_003660		49637098	1	no_errors	ENST00000334186	ensembl	human	known	70_37	missense	SNP	1.000	C	C	49637098	G	C	49637098	3	2	185	1	0	0	0	0	1	0	0	0	12335	1175	41	1	1241	1	PPFIA3	19	49637098	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	274736	49637098	9491885	1478	35753										
TRPM4	54795	genome.wustl.edu	37	chr19	49714276	49714276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggccctcccttctcagggtgGacttggcactgaaacagctg	12	13	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49714276G>A	ENST00000252826.5	+	23	3592	c.3466G>A	c.(3466-3468)Gac>Aac	p.D1156N	TRPM4_ENST00000355712.5_Missense_Mutation_p.D802N|TRPM4_ENST00000427978.2_Missense_Mutation_p.D1011N	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1156	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCTCAGGGTGGACTTGGCACT	0.682																																																	0													36	34	34					19																	49714276		2203	4300	6503	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3466G>A	19.37:g.49714276G>A	ENSP00000252826:p.Asp1156Asn		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D1156N	ENST00000252826.5	37	c.3466	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360712	0.61403	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.60672	0.23;0.17;0.36	4.99	4.99	0.66335	.	0.065474	0.56097	D	0.000026	T	0.65091	0.2658	L	0.29908	0.895	0.40820	D	0.983492	D;D;D;D	0.89917	0.961;0.977;0.977;1.0	P;P;P;D	0.91635	0.617;0.787;0.787;0.999	T	0.67964	-0.5534	10	0.56958	D	0.05	-24.5182	14.1319	0.65260	0.0:0.0:1.0:0.0	.	802;982;1011;1156	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	N	1156;1011;802	ENSP00000252826:D1156N;ENSP00000407492:D1011N;ENSP00000347944:D802N	ENSP00000252826:D1156N	D	+	1	0	TRPM4	54406088	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.055000	0.57441	2.484000	0.83849	0.561000	0.74099	GAC	TRPM4	-	NULL		0.682	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	G	NM_017636		49714276	1	no_errors	ENST00000252826	ensembl	human	known	70_37	missense	SNP	1.000	A	A	49714276	G	A	49714276	3	1	185	1	0	0	0	0	1	0	0	0	16619	1174	41	1	3556	1	TRPM4	19	49714276	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	77178	49714276	9414707	1479	35754										
SLC17A7	57030	genome.wustl.edu	37	chr19	49934389	49934389	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggggctatgtccaggtggttCacgttgaaccctggcggaga	16	9	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:49934389C>A	ENST00000221485.3	-	11	1443	c.1272G>T	c.(1270-1272)gtG>gtT	p.V424V	SLC17A7_ENST00000543531.1_Silent_p.V412V|SLC17A7_ENST00000600601.1_Silent_p.V357V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	424					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCAGGTGGTTCACGTTGAACC	0.632																																																	0													82	68	72					19																	49934389		2203	4300	6503	SO:0001819	synonymous_variant	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1272G>T	19.37:g.49934389C>A			B4DFR9|B4DG46|Q6PCD0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V424	ENST00000221485.3	37	c.1272	CCDS12764.1	19																																																																																			SLC17A7	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	HGNC	protein_coding	OTTHUMT00000465367.2	C			49934389	-1	no_errors	ENST00000221485	ensembl	human	known	70_37	silent	SNP	1.000	A	A	49934389	C	A	49934389	2	1	185	1	0	0	0	0	0	0	0	1	14452	813	29	3		3	SLC17A7	19	49934389	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	220113	49934389	9194594	1480	35755										
PRR12	57479	genome.wustl.edu	37	chr19	50104804	50104804	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacctcctgccccgactcctCagcctcagcctccgccaccc	5	25	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50104804C>G	ENST00000418929.2	+	6	4414	c.4402C>G	c.(4402-4404)Cag>Gag	p.Q1468E		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		cccgactcctcagcctcagcc	0.706																																																	0													3	5	4					19																	50104804		1516	3404	4920	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4402C>G	19.37:g.50104804C>G	ENSP00000394510:p.Gln1468Glu		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.Q1468E	ENST00000418929.2	37	c.4402	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653723	0.29425	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	2.84	2.84	0.33178	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.33187	D	0.550344	B	0.27823	0.19	B	0.27796	0.083	T	0.28170	-1.0052	7	0.02654	T	1	-13.3823	9.2536	0.37571	0.0:1.0:0.0:0.0	.	1468	Q9ULL5-3	.	E	1468;648;648	.	ENSP00000246798:Q648E	Q	+	1	0	PRR12	54796616	0.246000	0.23909	0.690000	0.30148	0.885000	0.51271	0.812000	0.27211	1.583000	0.49898	0.313000	0.20887	CAG	PRR12	-	NULL		0.706	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50104804	1	no_errors	ENST00000418929	ensembl	human	novel	70_37	missense	SNP	1.000	G	G	50104804	C	G	50104804	3	3	185	1	0	0	0	0	1	0	0	0	12611	827	29	1	4424	1	PRR12	19	50104804	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	170415	50104804	9024179	1481	35756										
PRR12	57479	genome.wustl.edu	37	chr19	50119194	50119194	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctccctcctgcggcctgttGagaaggaaaaggagaaggag	14	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50119194G>C	ENST00000418929.2	+	9	5227	c.5215G>C	c.(5215-5217)Gag>Cag	p.E1739Q		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	918							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCGGCCTGTTgagaaggaaaa	0.652																																																	0													18	24	22					19																	50119194		1991	4095	6086	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5215G>C	19.37:g.50119194G>C	ENSP00000394510:p.Glu1739Gln		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.E1739Q	ENST00000418929.2	37	c.5215	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497789	0.26861	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.49	4.49	0.54785	.	0.750488	0.11477	N	0.560126	T	0.54111	0.1838	L	0.48642	1.525	0.43271	D	0.995226	P	0.39250	0.665	B	0.42343	0.384	T	0.49113	-0.8973	9	0.36615	T	0.2	-21.6145	10.7212	0.46042	0.0936:0.0:0.9064:0.0	.	1739	Q9ULL5-3	.	Q	1739;919;919	.	ENSP00000246798:E919Q	E	+	1	0	PRR12	54811006	0.999000	0.42202	0.924000	0.36721	0.027000	0.11550	3.141000	0.50593	2.511000	0.84671	0.561000	0.74099	GAG	PRR12	-	NULL		0.652	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	G	NM_020719		50119194	1	no_errors	ENST00000418929	ensembl	human	novel	70_37	missense	SNP	0.993	C	C	50119194	G	C	50119194	3	2	185	1	0	0	0	0	1	0	0	0	12611	1291	45	1	5249	1	PRR12	19	50119194	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	14390	50119194	9009789	1482	35757										
RRAS	6237	genome.wustl.edu	37	chr19	50139083	50139083	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gccacgtggtgggaggcgccGaaggcagaggcttctgatcg	18	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50139083G>A	ENST00000246792.3	-	5	582	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	160					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGGAGGCGCCGAAGGCAGAGG	0.657																																																	0													25	27	27					19																	50139083		2203	4299	6502	SO:0001819	synonymous_variant	6237				CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"Oncogene RRAS"	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.480C>T	19.37:g.50139083G>A			Q6FH12	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F160	ENST00000246792.3	37	c.480	CCDS12774.1	19																																																																																			RRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.657	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAS	HGNC	protein_coding	OTTHUMT00000465791.1	G	NM_006270		50139083	-1	no_errors	ENST00000246792	ensembl	human	known	70_37	silent	SNP	0.006	A	A	50139083	G	A	50139083	2	1	185	1	0	0	0	0	0	0	0	1	13706	1049	37	1		1	RRAS	19	50139083	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	19889	50139083	8989900	1483	35758										
TSKS	60385	genome.wustl.edu	37	chr19	50243365	50243365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttcttggcccgcagggcctCgtcttgggccagccgaaggg	16	13	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50243365C>T	ENST00000246801.3	-	10	1655	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	TSKS_ENST00000358830.3_Missense_Mutation_p.E325K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	525					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGCAGGGCCTCGTCTTGGGCC	0.632																																																	0													71	73	72					19																	50243365		2203	4300	6503	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1573G>A	19.37:g.50243365C>T	ENSP00000246801:p.Glu525Lys		Q8WXJ0	Missense_Mutation	SNP	NULL	p.E525K	ENST00000246801.3	37	c.1573	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335983	0.81801	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.44482	0.92;0.92	4.81	4.81	0.61882	.	0.119977	0.37483	N	0.002079	T	0.48295	0.1492	N	0.24115	0.695	0.35727	D	0.817581	D	0.76494	0.999	D	0.76575	0.988	T	0.55386	-0.8149	10	0.38643	T	0.18	-11.6883	13.2401	0.59992	0.0:1.0:0.0:0.0	.	525	Q9UJT2	TSKS_HUMAN	K	525;325	ENSP00000246801:E525K;ENSP00000351691:E325K	ENSP00000246801:E525K	E	-	1	0	TSKS	54935177	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.636000	0.54317	2.490000	0.84030	0.609000	0.83330	GAG	TSKS	-	NULL		0.632	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50243365	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50243365	C	T	50243365	3	4	185	1	0	0	0	0	1	0	0	0	16657	893	31	1	213	1	TSKS	19	50243365	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	104282	50243365	8885618	1484	35759										
AP2A1	160	genome.wustl.edu	37	chr19	50302075	50302075	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagaggatgcggctgtgaaGgggcggctggtggaatgtct	19	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50302075G>C	ENST00000359032.5	+	8	831	c.831G>C	c.(829-831)aaG>aaC	p.K277N	AP2A1_ENST00000354293.5_Missense_Mutation_p.K277N	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	277					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CGGCTGTGAAGGGGCGGCTGG	0.637																																																	0													19	24	22					19																	50302075		1924	4123	6047	SO:0001583	missense	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.831G>C	19.37:g.50302075G>C	ENSP00000351926:p.Lys277Asn		Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.K277N	ENST00000359032.5	37	c.831	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103778	0.56291	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.26810	1.71;1.71	4.34	2.19	0.27852	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	L	0.29908	0.895	0.49687	D	0.999819	P;P	0.45634	0.597;0.863	P;P	0.49140	0.543;0.601	T	0.01757	-1.1280	10	0.37606	T	0.19	.	7.2485	0.26135	0.3054:0.0:0.6946:0.0	.	277;277	O95782-2;O95782	.;AP2A1_HUMAN	N	277	ENSP00000346246:K277N;ENSP00000351926:K277N	ENSP00000346246:K277N	K	+	3	2	AP2A1	54993887	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	0.703000	0.25646	0.553000	0.29044	0.561000	0.74099	AAG	AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.637	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	G			50302075	1	no_errors	ENST00000354293	ensembl	human	known	70_37	missense	SNP	1.000	C	C	50302075	G	C	50302075	3	2	185	1	0	0	0	0	1	0	0	0	739	991	35	4	861	4	AP2A1	19	50302075	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	58710	50302075	8826908	1485	35760										
NUP62	23636	genome.wustl.edu	37	chr19	50412023	50412023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgctggaggaagtgccgctCctggtcctctagctccaggc	13	14	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50412023C>T	ENST00000596217.1	-	2	2929	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	NUP62_ENST00000422090.2_Missense_Mutation_p.E348K|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.E348K|NUP62_ENST00000597029.1_Missense_Mutation_p.E348K|NUP62_ENST00000413454.1_Missense_Mutation_p.E348K|NUP62_ENST00000597723.1_Intron|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	348					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGTGCCGCTCCTGGTCCTCT	0.642																																																	0													83	87	86					19																	50412023		2203	4299	6502	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1042G>A	19.37:g.50412023C>T	ENSP00000471191:p.Glu348Lys		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.E348K	ENST00000596217.1	37	c.1042	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.466773	0.96257	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.77750	-1.12;-1.12;-1.12	5.2	5.2	0.72013	Nucleoporin, NSP1-like, C-terminal (2);	0.000000	0.64402	U	0.000001	D	0.87541	0.6203	M	0.79805	2.47	0.80722	D	1	P	0.41420	0.749	P	0.59012	0.85	D	0.86321	0.1692	9	.	.	.	-19.2989	16.6399	0.85069	0.0:1.0:0.0:0.0	.	348	P37198	NUP62_HUMAN	K	348	ENSP00000305503:E348K;ENSP00000407331:E348K;ENSP00000387991:E348K	.	E	-	1	0	NUP62	55103835	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.324000	0.79115	2.876000	0.98609	0.655000	0.94253	GAG	NUP62	-	pfam_Nucleoporin_NSP1_C		0.642	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	C	NM_153719		50412023	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50412023	C	T	50412023	3	4	185	1	0	0	0	0	1	0	0	0	10792	864	30	1	530	1	NUP62	19	50412023	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	109948	50412023	8716960	1486	35761										
POLD1	5424	genome.wustl.edu	37	chr19	50912854	50912854	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cggcagctggcgctgaaggtGagcgccaactccgtatacgg	15	12	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50912854G>C	ENST00000440232.2	+	17	2138	c.2085G>C	c.(2083-2085)gtG>gtC	p.V695V	POLD1_ENST00000599857.1_Silent_p.V695V|POLD1_ENST00000595904.1_Silent_p.V721V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	695					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGCTGAAGGTGAGCGCCAACT	0.672								DNA polymerases (catalytic subunits)																																									0													56	63	61					19																	50912854		2203	4300	6503	SO:0001819	synonymous_variant	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2085G>C	19.37:g.50912854G>C			Q8NER3|Q96H98	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.V695	ENST00000440232.2	37	c.2085	CCDS12795.1	19																																																																																			POLD1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	G			50912854	1	no_errors	ENST00000440232	ensembl	human	known	70_37	silent	SNP	1.000	C	C	50912854	G	C	50912854	2	2	185	1	0	0	0	0	0	0	0	1	12214	1277	45	1		1	POLD1	19	50912854	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	500831	50912854	8216129	1487	35762										
MYBPC2	4606	genome.wustl.edu	37	chr19	50957558	50957558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggaggctgtgcgcatcacctCggttggagaggattgggcca	17	9	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50957558C>T	ENST00000357701.5	+	18	1997	c.1946C>T	c.(1945-1947)tCg>tTg	p.S649L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	649	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.S649L(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGCATCACCTCGGTTGGAGAG	0.647																																																	1	Substitution - Missense(1)	endometrium(1)											42	45	44					19																	50957558		2049	4180	6229	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1946C>T	19.37:g.50957558C>T	ENSP00000350332:p.Ser649Leu		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S649L	ENST00000357701.5	37	c.1946	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	15.50	2.852003	0.51270	.	.	ENSG00000086967	ENST00000357701	T	0.58797	0.31	3.47	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.818736	0.09614	U	0.778494	T	0.57373	0.2049	M	0.71581	2.175	0.09310	N	0.999995	P	0.40180	0.705	B	0.36666	0.23	T	0.54403	-0.8299	10	0.56958	D	0.05	.	12.345	0.55116	0.0:1.0:0.0:0.0	.	649	Q14324	MYPC2_HUMAN	L	649	ENSP00000350332:S649L	ENSP00000350332:S649L	S	+	2	0	MYBPC2	55649370	0.000000	0.05858	0.828000	0.32881	0.619000	0.37552	0.617000	0.24359	1.978000	0.57642	0.450000	0.29827	TCG	MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50957558	1	no_errors	ENST00000357701	ensembl	human	known	70_37	missense	SNP	0.378	T	T	50957558	C	T	50957558	3	4	185	1	0	0	0	0	1	0	0	0	10035	893	31	1	2016	1	MYBPC2	19	50957558	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	44704	50957558	8171425	1488	35763										
C19orf63	284361	genome.wustl.edu	37	chr19	50983986	50983986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctggagctgttcaacacctCggtgcagctgcagccgccca	11	16	1	0	rs369893864		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:50983986C>T	ENST00000334976.6	+	5	597	c.551C>T	c.(550-552)tCg>tTg	p.S184L	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Missense_Mutation_p.S184L|EMC10_ENST00000376918.3_Missense_Mutation_p.S184L	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	184						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.S184L(2)									TTCAACACCTCGGTGCAGCTG	0.716																																																	2	Substitution - Missense(2)	breast(2)						C	LEU/SER,LEU/SER	0,4394		0,0,2197	26	28	27		551,551	4.2	0	19		27	1,8583		0,1,4291	no	missense,missense	C19orf63	NM_175063.4,NM_206538.2	145,145	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	184/255,184/263	50983986	1,12977	2197	4292	6489	SO:0001583	missense	284361			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1"	614545	"chromosome 19 open reading frame 63"	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.551C>T	19.37:g.50983986C>T	ENSP00000334037:p.Ser184Leu		Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	NULL	p.S184L	ENST00000334976.6	37	c.551	CCDS12796.1	19	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483826	0.44147	0.0	1.16E-4	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	4.16	4.16	0.48862	.	0.183997	0.44097	D	0.000494	T	0.55369	0.1916	L	0.48642	1.525	0.46725	D	0.999172	D;P;D	0.62365	0.991;0.953;0.991	P;B;P	0.46237	0.508;0.209;0.508	T	0.57551	-0.7792	9	0.35671	T	0.21	-4.9557	16.085	0.81038	0.0:1.0:0.0:0.0	.	184;184;184	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	L	184	.	ENSP00000334037:S184L	S	+	2	0	C19orf63	55675798	0.345000	0.24835	0.016000	0.15963	0.084000	0.17831	3.947000	0.56652	2.249000	0.74217	0.313000	0.20887	TCG	EMC10	-	NULL		0.716	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2	C	NM_175063		50983986	1	no_errors	ENST00000334976	ensembl	human	known	70_37	missense	SNP	0.830	T	T	50983986	C	T	50983986	3	4	185	1	0	0	0	0	1	0	0	0	1950	893	31	1	569	1	C19orf63	19	50983986	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	26428	50983986	8144997	1489	35764										
KLK12	43849	genome.wustl.edu	37	chr19	51537307	51537307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cccccgcagcgcaggctggtGccctcaaacagccccacctg	10	20	1	0	rs370196145		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:51537307G>A	ENST00000525263.1	-	2	245	c.126C>T	c.(124-126)ggC>ggT	p.G42G	KLK12_ENST00000250352.11_Missense_Mutation_p.A19V|KLK12_ENST00000250351.4_Silent_p.G42G|KLK12_ENST00000319590.4_Silent_p.G42G|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Silent_p.G42G			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	42	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCAGGCTGGTGCCCTCAAACA	0.632																																																	0								G	,,	1,4391		0,1,2195	31	24	27		126,126,126	-1.1	0.2	19		27	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	KLK12	NM_019598.2,NM_145894.1,NM_145895.1	,,	0,1,6487	AA,AG,GG		0.0,0.0228,0.0077	,,	42/255,42/249,42/112	51537307	1,12975	2196	4292	6488	SO:0001819	synonymous_variant	43849				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.126C>T	19.37:g.51537307G>A			Q9UKR1|Q9UKR2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	p.A19V	ENST00000525263.1	37	c.56	CCDS12821.1	19	.	.	.	.	.	.	.	.	.	.	g	14.45	2.539397	0.45176	2.28E-4	0.0	ENSG00000186474	ENST00000250352	D	0.89485	-2.52	3.94	-1.15	0.09709	.	.	.	.	.	D	0.90191	0.6934	.	.	.	0.58432	D	0.999991	B;D	0.61697	0.043;0.99	B;P	0.59115	0.026;0.852	D	0.86207	0.1622	8	0.87932	D	0	.	3.9515	0.09371	0.3269:0.1789:0.4942:0.0	.	19;19	B9EGA9;Q49AM7	.;.	V	19	ENSP00000250352:A19V	ENSP00000250352:A19V	A	-	2	0	KLK12	56229119	0.000000	0.05858	0.170000	0.22879	0.418000	0.31294	-0.770000	0.04705	-0.191000	0.10448	-0.312000	0.09012	GCA	KLK12	-	pfam_Peptidase_S1_S6,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.632	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	HGNC	protein_coding	OTTHUMT00000386288.1	G	NM_019598		51537307	-1	no_errors	ENST00000250352	ensembl	human	known	70_37	missense	SNP	0.127	A	A	51537307	G	A	51537307	2	1	185	1	0	0	0	0	0	0	0	1	8420	1306	46	4		4	KLK12	19	51537307	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	553321	51537307	7591676	1490	35765										
CTU1	90353	genome.wustl.edu	37	chr19	51607737	51607737	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcggcctcgaaggcggcgcaGaagcaggcaccgcacagcgc	15	15	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:51607737G>A	ENST00000421832.2	-	2	134	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_145232.3	NP_660275.2			cytosolic thiouridylase subunit 1											large_intestine(2)|lung(1)|urinary_tract(1)	4						AGGCGGCGCAGAAGCAGGCAC	0.781																																																	0													1	2	1					19																	51607737		1021	2272	3293	SO:0001819	synonymous_variant	90353				CCDS12824.1	19q13.41	2013-05-31	2013-05-31	2009-08-19		ENSG00000142544			29590	protein-coding gene	gene with protein product		612694	"ATP binding domain 3", "cytosolic thiouridylase subunit 1 homolog (S. pombe)"	ATPBD3		19017811	Standard	NM_145232		Approved	MGC17332, NCS6	uc010eop.3	Q7Z7A3		ENST00000421832.2:c.90C>T	19.37:g.51607737G>A				Silent	SNP	pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA	p.F30	ENST00000421832.2	37	c.90	CCDS12824.1	19																																																																																			CTU1	-	pirsf_2-thiocytidine_tRNA_synth_TtcA		0.781	CTU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTU1	HGNC	protein_coding	OTTHUMT00000464292.1	G	NM_145232		51607737	-1	no_errors	ENST00000421832	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51607737	G	A	51607737	2	1	185	1	0	0	0	0	0	0	0	1	4052	933	33	1		1	CTU1	19	51607737	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	70430	51607737	7521246	1491	35766										
ZNF613	79898	genome.wustl.edu	37	chr19	52447781	52447781	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtgggaaggctttcctcaaGaagtctcgcctcatctatca	9	11	5	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52447781G>C	ENST00000293471.6	+	6	1324	c.645G>C	c.(643-645)aaG>aaC	p.K215N	ZNF613_ENST00000391794.4_Missense_Mutation_p.K179N	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTTTCCTCAAGAAGTCTCGCC	0.443																																																	0													179	186	184					19																	52447781		2203	4300	6503	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.645G>C	19.37:g.52447781G>C	ENSP00000293471:p.Lys215Asn		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K215N	ENST00000293471.6	37	c.645	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838759	0.16891	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.27890	1.64;1.64	3.0	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.582694	0.14391	N	0.322499	T	0.29158	0.0725	N	0.12502	0.225	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08617	-1.0713	10	0.62326	D	0.03	.	2.9359	0.05815	0.2496:0.0:0.537:0.2134	.	215	Q6PF04	ZN613_HUMAN	N	215;179	ENSP00000293471:K215N;ENSP00000375671:K179N	ENSP00000293471:K215N	K	+	3	2	ZNF613	57139593	0.000000	0.05858	0.997000	0.53966	0.223000	0.24884	-2.282000	0.01156	0.141000	0.18875	-1.056000	0.02311	AAG	ZNF613	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	G	NM_024840		52447781	1	no_errors	ENST00000293471	ensembl	human	known	70_37	missense	SNP	0.000	C	C	52447781	G	C	52447781	3	2	185	1	0	0	0	0	1	0	0	0	18068	933	33	1	659	1	ZNF613	19	52447781	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	840044	52447781	6681202	1492	35767										
ZNF614	80110	genome.wustl.edu	37	chr19	52519812	52519812	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtgaagccttttccacattCactgcatatatagggtttct	8	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52519812C>G	ENST00000270649.6	-	5	1583	c.1039G>C	c.(1039-1041)Gaa>Caa	p.E347Q	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTTCCACATTCACTGCATATA	0.423																																																	0													124	115	118					19																	52519812		2203	4300	6503	SO:0001583	missense	80110			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1039G>C	19.37:g.52519812C>G	ENSP00000270649:p.Glu347Gln		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E347Q	ENST00000270649.6	37	c.1039	CCDS12847.1	19	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745755	0.49151	.	.	ENSG00000142556	ENST00000270649	T	0.07444	3.19	3.8	0.0608	0.14337	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08133	0.0203	N	0.12422	0.21	0.09310	N	1	D	0.59357	0.985	P	0.54431	0.752	T	0.37430	-0.9706	9	0.46703	T	0.11	.	7.6489	0.28337	0.0:0.6614:0.1487:0.1899	.	347	Q8N883	ZN614_HUMAN	Q	347	ENSP00000270649:E347Q	ENSP00000270649:E347Q	E	-	1	0	ZNF614	57211624	0.000000	0.05858	0.412000	0.26496	0.998000	0.95712	-1.493000	0.02298	0.281000	0.22233	0.655000	0.94253	GAA	ZNF614	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF614	HGNC	protein_coding	OTTHUMT00000462407.1	C	NM_025040		52519812	-1	no_errors	ENST00000270649	ensembl	human	known	70_37	missense	SNP	0.001	G	G	52519812	C	G	52519812	3	3	185	1	0	0	0	0	1	0	0	0	18069	835	29	1	722	1	ZNF614	19	52519812	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	72031	52519812	6609171	1493	35768										
ZNF616	90317	genome.wustl.edu	37	chr19	52618221	52618221	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgaattctttggtgtttgctGagggaaaacaaccgcccaaa	10	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52618221G>A	ENST00000600228.1	-	4	2457	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	732					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTGTTTGCTGAGGGAAAACA	0.393																																																	0													130	132	131					19																	52618221		2203	4300	6503	SO:0001819	synonymous_variant	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2196C>T	19.37:g.52618221G>A			B3KRV1|Q0P658|Q658V7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L732	ENST00000600228.1	37	c.2196	CCDS33090.1	19																																																																																			ZNF616	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	G	XM_030892		52618221	-1	no_errors	ENST00000600228	ensembl	human	known	70_37	silent	SNP	0.000	A	A	52618221	G	A	52618221	2	1	185	1	0	0	0	0	0	0	0	1	18071	1277	45	1		1	ZNF616	19	52618221	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	98409	52618221	6510762	1494	35769										
ZNF528	84436	genome.wustl.edu	37	chr19	52909190	52909190	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aattcatggatgtggccataGagttctctcaggaagagtgg	13	6	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52909190G>C	ENST00000360465.3	+	5	472	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	ZNF528_ENST00000391788.2_Missense_Mutation_p.E6Q|ZNF528_ENST00000598192.1_Missense_Mutation_p.E16Q|ZNF528_ENST00000594530.1_Missense_Mutation_p.E16Q	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGTGGCCATAGAGTTCTCTCA	0.473																																																	0													191	187	189					19																	52909190		2203	4300	6503	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.46G>C	19.37:g.52909190G>C	ENSP00000353652:p.Glu16Gln		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E16Q	ENST00000360465.3	37	c.46	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070540	0.20147	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465;ENST00000493272	T;T;T	0.01804	4.63;4.63;4.63	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.11965	0.0291	H	0.94847	3.59	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07927	-1.0747	9	0.59425	D	0.04	.	4.5152	0.11932	0.0:0.2448:0.5063:0.2489	.	16	Q3MIS6	ZN528_HUMAN	Q	6;16;16;6	ENSP00000375665:E6Q;ENSP00000375664:E16Q;ENSP00000353652:E16Q	ENSP00000353652:E16Q	E	+	1	0	ZNF528	57601002	0.097000	0.21791	0.008000	0.14137	0.173000	0.22820	1.207000	0.32333	1.141000	0.42275	0.491000	0.48974	GAG	ZNF528	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.473	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	G	NM_032423		52909190	1	no_errors	ENST00000360465	ensembl	human	known	70_37	missense	SNP	0.066	C	C	52909190	G	C	52909190	3	2	185	1	0	0	0	0	1	0	0	0	17999	943	33	1	52	1	ZNF528	19	52909190	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	290969	52909190	6219793	1495	35770										
ZNF528	84436	genome.wustl.edu	37	chr19	52909205	52909205	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccatagagttctctcaggaaGagtggaaatgcctggaccct	11	10	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:52909205G>C	ENST00000360465.3	+	5	487	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	ZNF528_ENST00000391788.2_Missense_Mutation_p.E11Q|ZNF528_ENST00000598192.1_Missense_Mutation_p.E21Q|ZNF528_ENST00000594530.1_Missense_Mutation_p.E21Q	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CTCTCAGGAAGAGTGGAAATG	0.483																																																	0													183	180	181					19																	52909205		2203	4300	6503	SO:0001583	missense	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.61G>C	19.37:g.52909205G>C	ENSP00000353652:p.Glu21Gln		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E21Q	ENST00000360465.3	37	c.61	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539089	0.45176	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465	T;T;T	0.11604	2.76;2.76;2.76	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.44953	0.1318	H	0.96833	3.89	0.24451	N	0.99448	D	0.89917	1.0	D	0.91635	0.999	T	0.38735	-0.9647	9	0.87932	D	0	.	11.1749	0.48593	0.0:0.0:1.0:0.0	.	21	Q3MIS6	ZN528_HUMAN	Q	11;21;21	ENSP00000375665:E11Q;ENSP00000375664:E21Q;ENSP00000353652:E21Q	ENSP00000353652:E21Q	E	+	1	0	ZNF528	57601017	1.000000	0.71417	0.105000	0.21289	0.515000	0.34225	0.789000	0.26886	1.141000	0.42275	0.491000	0.48974	GAG	ZNF528	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	G	NM_032423		52909205	1	no_errors	ENST00000360465	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52909205	G	C	52909205	3	2	185	1	0	0	0	0	1	0	0	0	17999	943	33	1	67	1	ZNF528	19	52909205	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	15	52909205	6219778	1496	35771										
ZNF578	147660	genome.wustl.edu	37	chr19	53014382	53014382	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctcatttgtaaggaaacatCagataatccatttaggagaa	8	6	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:53014382C>T	ENST00000421239.2	+	6	992	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q250*(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGGAAACATCAGATAATCCA	0.353																																																	1	Substitution - Nonsense(1)	lung(1)											74	79	77					19																	53014382		2201	4297	6498	SO:0001587	stop_gained	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.748C>T	19.37:g.53014382C>T	ENSP00000459216:p.Gln250*		B4DR51|I3L1Y6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q250*	ENST00000421239.2	37	c.748	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	16.38	3.108158	0.56291	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0853	0.25254	0.0:0.7148:0.2852:0.0	.	.	.	.	X	250	.	.	Q	+	1	0	ZNF578	57706194	0.000000	0.05858	0.016000	0.15963	0.143000	0.21401	-0.950000	0.03889	0.835000	0.34877	0.297000	0.19635	CAG	ZNF578	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	C	NM_152472		53014382	1	no_errors	ENST00000421239	ensembl	human	known	70_37	nonsense	SNP	0.130	T	T	53014382	C	T	53014382	4	4	185	1	0	0	0	0	0	1	0	0	18040	827	29	1	758	1	ZNF578	19	53014382	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	105177	53014382	6114601	1497	35772										
VN1R2	317701	genome.wustl.edu	37	chr19	53761997	53761997	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggggatacaagccaagatcCacagatttgattctcaggca	10	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:53761997C>G	ENST00000341702.3	+	1	453	c.369C>G	c.(367-369)tcC>tcG	p.S123S		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	123					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGCCAAGATCCACAGATTTGA	0.403																																																	0													85	90	88					19																	53761997		2203	4300	6503	SO:0001819	synonymous_variant	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.369C>G	19.37:g.53761997C>G			A1L411|Q8TDU4	Silent	SNP	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.S123	ENST00000341702.3	37	c.369	CCDS12862.1	19																																																																																			VN1R2	-	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1		0.403	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1	C	NM_173856		53761997	1	no_errors	ENST00000341702	ensembl	human	known	70_37	silent	SNP	0.000	G	G	53761997	C	G	53761997	2	3	185	1	0	0	0	0	0	0	0	1	17210	581	21	4		4	VN1R2	19	53761997	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	747615	53761997	5366986	1498	35773										
VSTM1	284415	genome.wustl.edu	37	chr19	54561966	54561966	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctcaccattctttttctcatCttcgtagcccagacacagcc	4	16	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:54561966C>T	ENST00000338372.2	-	2	230	c.55G>A	c.(55-57)Gat>Aat	p.D19N	VSTM1_ENST00000366170.2_5'UTR|VSTM1_ENST00000425006.2_Missense_Mutation_p.D19N|VSTM1_ENST00000376626.1_Missense_Mutation_p.D19N	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	19					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTTTTCTCATCTTCGTAGCCC	0.403																																																	0													107	110	109					19																	54561966		2203	4300	6503	SO:0001583	missense	284415			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.55G>A	19.37:g.54561966C>T	ENSP00000343366:p.Asp19Asn		B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.D19N	ENST00000338372.2	37	c.55	CCDS12872.1	19	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072830	0.55646	.	.	ENSG00000189068	ENST00000338372;ENST00000376626;ENST00000425006	T;T;T	0.00543	6.9;6.68;6.7	3.04	3.04	0.35103	.	0.240961	0.21458	N	0.074215	T	0.01029	0.0034	L	0.48642	1.525	0.09310	N	1	D;D	0.76494	0.999;0.997	D;P	0.63381	0.914;0.878	T	0.59408	-0.7460	10	0.21540	T	0.41	-6.9641	9.778	0.40632	0.0:1.0:0.0:0.0	.	19;19	D2DJS4;Q6UX27	.;VSTM1_HUMAN	N	19	ENSP00000343366:D19N;ENSP00000365813:D19N;ENSP00000413006:D19N	ENSP00000343366:D19N	D	-	1	0	VSTM1	59253778	0.003000	0.15002	0.029000	0.17559	0.276000	0.26787	0.834000	0.27518	1.976000	0.57569	0.467000	0.42956	GAT	VSTM1	-	NULL		0.403	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM1	HGNC	protein_coding	OTTHUMT00000139358.3	C	NM_198481		54561966	-1	no_errors	ENST00000338372	ensembl	human	known	70_37	missense	SNP	0.041	T	T	54561966	C	T	54561966	3	4	185	1	0	0	0	0	1	0	0	0	17259	913	32	1	687	1	VSTM1	19	54561966	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	799969	54561966	4567017	1499	35774										
CNOT3	4849	genome.wustl.edu	37	chr19	54647772	54647772	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggttcaaagttgtggaacgaGagaccaaaaccaaagcttac	10	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:54647772G>A	ENST00000406403.1	+	5	1892	c.289G>A	c.(289-291)Gag>Aag	p.E97K	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E97K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	97					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGTGGAACGAGAGACCAAAAC	0.557																																																	0													87	85	86					19																	54647772		2203	4300	6503	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.289G>A	19.37:g.54647772G>A	ENSP00000383954:p.Glu97Lys		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.E97K	ENST00000406403.1	37	c.289	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.409072	0.96072	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.54279	0.58;0.58	5.28	5.28	0.74379	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.81802	2.56	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.996;0.992;0.996	T	0.78130	-0.2324	10	0.72032	D	0.01	-37.8367	18.0727	0.89415	0.0:0.0:1.0:0.0	.	97;97;21	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	K	97	ENSP00000221232:E97K;ENSP00000383954:E97K	ENSP00000221232:E97K	E	+	1	0	CNOT3	59339584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.153000	0.94687	2.641000	0.89580	0.655000	0.94253	GAG	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	G	NM_014516		54647772	1	no_errors	ENST00000221232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	54647772	G	A	54647772	3	1	185	1	0	0	0	0	1	0	0	0	3625	943	33	1	307	1	CNOT3	19	54647772	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	85806	54647772	4481211	1500	35775										
RPS9	6203	genome.wustl.edu	37	chr19	54711421	54711421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagggtggggctggggctgGagacgacgaggaggaggatt	22	6	0	1	rs1065597		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:54711421G>C	ENST00000302907.4	+	5	735	c.563G>C	c.(562-564)gGa>gCa	p.G188A	RPS9_ENST00000391752.1_Missense_Mutation_p.G188A|RPS9_ENST00000391751.3_3'UTR|RPS9_ENST00000402367.1_3'UTR|RPS9_ENST00000391753.2_Missense_Mutation_p.G188A|RPS9_ENST00000441429.1_3'UTR	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	188					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		GCTGGGGCTGGAGACGACGAG	0.592																																																	0													24	24	24					19																	54711421		2202	4300	6502	SO:0001583	missense	6203			U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"S ribosomal proteins"	10442	protein-coding gene	gene with protein product	"40S ribosomal protein S9"	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.563G>C	19.37:g.54711421G>C	ENSP00000302896:p.Gly188Ala		A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc	p.G188A	ENST00000302907.4	37	c.563	CCDS12884.1	19	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571413	0.28003	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000391753	T;T;T	0.46063	0.88;0.88;0.88	4.86	3.82	0.43975	.	0.049640	0.85682	D	0.000000	T	0.17916	0.0430	N	0.02765	-0.5	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.08806	-1.0704	10	0.20046	T	0.44	-22.9912	10.9712	0.47441	0.0936:0.0:0.9064:0.0	.	188	P46781	RS9_HUMAN	A	188	ENSP00000302896:G188A;ENSP00000375632:G188A;ENSP00000375633:G188A	ENSP00000302896:G188A	G	+	2	0	RPS9	59403233	0.998000	0.40836	0.314000	0.25224	0.842000	0.47809	2.968000	0.49224	2.692000	0.91855	0.655000	0.94253	GGA	RPS9	-	NULL		0.592	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS9	HGNC	protein_coding	OTTHUMT00000142834.3	G	NM_001013		54711421	1	no_errors	ENST00000302907	ensembl	human	known	70_37	missense	SNP	0.418	C	C	54711421	G	C	54711421	3	2	185	1	0	0	0	0	1	0	0	0	13692	1174	41	1	577	1	RPS9	19	54711421	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	63649	54711421	4417562	1501	35776										
RDH13	112724	genome.wustl.edu	37	chr19	55558771	55558771	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaccgagtgtggtgctggaGaaggtggagccatggatgcc	17	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:55558771G>A	ENST00000415061.3	-	6	887	c.744C>T	c.(742-744)ttC>ttT	p.F248F	CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000396247.3_Silent_p.F177F|CTC-550B14.7_ENST00000593060.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	248					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	TGGTGCTGGAGAAGGTGGAGC	0.657																																																	0													60	78	72					19																	55558771		2082	4219	6301	SO:0001819	synonymous_variant	112724				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19978	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 3"		"retinol dehydrogenase 13 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.744C>T	19.37:g.55558771G>A			Q6UX79|Q96G88	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.F248	ENST00000415061.3	37	c.744	CCDS54320.1	19																																																																																			RDH13	-	NULL		0.657	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1	G	NM_138412		55558771	-1	no_errors	ENST00000415061	ensembl	human	known	70_37	silent	SNP	1.000	A	A	55558771	G	A	55558771	2	1	185	1	0	0	0	0	0	0	0	1	13222	933	33	1		1	RDH13	19	55558771	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	847350	55558771	3570212	1502	35777										
RPL28	6158	genome.wustl.edu	37	chr19	55899502	55899502	+	Intron	SNP	G	G	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tactggttgcaatatgggctGgagagggatggattcttgct							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:55899502G>A	ENST00000344063.2	+	4	953				RPL28_ENST00000558815.1_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000560583.1_Nonsense_Mutation_p.W137*|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000558131.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		AATATGGGCTGGAGAGGGATG	0.622																																																	0													92	89	90					19																	55899502		692	1591	2283	SO:0001627	intron_variant	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.324+86G>A	19.37:g.55899502G>A			B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Nonsense_Mutation	SNP	NULL	p.W137*	ENST00000344063.2	37	c.410	CCDS12924.1	19	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355275	0.24512	.	.	ENSG00000108107	ENST00000426763	.	.	.	3.16	-3.67	0.04476	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6716	0.62430	0.0:0.3979:0.6021:0.0	.	.	.	.	X	137	.	.	W	+	2	0	RPL28	60591314	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.180000	0.16860	-0.255000	0.09486	0.462000	0.41574	TGG	RPL28	-	NULL		0.622	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	G	NM_000991		55899502	1	no_errors	ENST00000560583	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	55899502	G	A	55899502	1	1	185	0	1	0	0	0	0	0	0	0	13607	1357	47	4		4	RPL28	19	55899502	Intron	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	340731	55899502	3229481	1503	35778	228	2								
RPL28	6158	genome.wustl.edu	37	chr19	55899505	55899505	+	Intron	SNP	G	G	A													0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggttgcaatatgggctggaGagggatggattcttgctttc							TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:55899505G>A	ENST00000344063.2	+	4	953				RPL28_ENST00000558815.1_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000560583.1_Missense_Mutation_p.R138K|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000558131.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		ATGGGCTGGAGAGGGATGGAT	0.622																																																	0													93	89	91					19																	55899505		692	1591	2283	SO:0001627	intron_variant	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.324+89G>A	19.37:g.55899505G>A			B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	NULL	p.R138K	ENST00000344063.2	37	c.413	CCDS12924.1	19	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705337	0.30232	.	.	ENSG00000108107	ENST00000426763	.	.	.	3.16	-0.71	0.11234	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.09310	N	0.999999	B	0.10296	0.003	B	0.12156	0.007	T	0.23119	-1.0197	6	.	.	.	.	4.7824	0.13208	0.233:0.1788:0.5882:0.0	.	138	B4DEP9	.	K	138	.	.	R	+	2	0	RPL28	60591317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.009000	0.01455	-0.176000	0.10707	-0.448000	0.05591	AGA	RPL28	-	NULL		0.622	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	G	NM_000991		55899505	1	no_errors	ENST00000560583	ensembl	human	known	70_37	missense	SNP	0.000	A	A	55899505	G	A	55899505	1	1	185	0	1	0	0	0	0	0	0	0	13607	942	33	1		1	RPL28	19	55899505	Intron	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3	55899505	3229478	1504	35779	228	2								
RPL28	6158	genome.wustl.edu	37	chr19	55899664	55899664	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agccagaagcctgtgatggtGaagaggaagcggacccgccc	15	11	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:55899664G>A	ENST00000344063.2	+	5	1007	c.378G>A	c.(376-378)gtG>gtA	p.V126V	RPL28_ENST00000558815.1_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000560583.1_3'UTR|RPL28_ENST00000559463.1_Silent_p.V126V|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000558131.1_3'UTR			P46779	RL28_HUMAN	ribosomal protein L28	126					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CTGTGATGGTGAAGAGGAAGC	0.652																																																	0													19	23	21					19																	55899664		2192	4294	6486	SO:0001819	synonymous_variant	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.378G>A	19.37:g.55899664G>A			B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Silent	SNP	NULL	p.V126	ENST00000344063.2	37	c.378	CCDS12924.1	19																																																																																			RPL28	-	NULL		0.652	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	G	NM_000991		55899664	1	no_errors	ENST00000344063	ensembl	human	known	70_37	silent	SNP	1.000	A	A	55899664	G	A	55899664	2	1	185	1	0	0	0	0	0	0	0	1	13607	1277	45	1		1	RPL28	19	55899664	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	159	55899664	3229319	1505	35780										
NLRP9	338321	genome.wustl.edu	37	chr19	56226588	56226588	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaggtgagacagcagtacatCaacctgcaaagaaacacacc	9	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:56226588C>G	ENST00000332836.2	-	6	2361	c.2334G>C	c.(2332-2334)ttG>ttC	p.L778F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	778						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGCAGTACATCAACCTGCAAA	0.527																																																	0													103	81	88					19																	56226588		2201	4294	6495	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2334G>C	19.37:g.56226588C>G	ENSP00000331857:p.Leu778Phe		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L778F	ENST00000332836.2	37	c.2334	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	c	6.918	0.538976	0.13250	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.73789	-0.78	2.54	-2.62	0.06152	.	.	.	.	.	T	0.74527	0.3728	M	0.78456	2.415	0.09310	N	1	P	0.42556	0.783	P	0.46172	0.506	T	0.67616	-0.5625	9	0.87932	D	0	.	6.4733	0.22020	0.0:0.386:0.0:0.614	.	778	Q7RTR0	NALP9_HUMAN	F	778	ENSP00000331857:L778F	ENSP00000331857:L778F	L	-	3	2	NLRP9	60918400	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.625000	0.05534	-0.439000	0.07222	-0.176000	0.13171	TTG	NLRP9	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.527	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56226588	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	missense	SNP	0.000	G	G	56226588	C	G	56226588	3	3	185	1	0	0	0	0	1	0	0	0	10508	825	29	1	657	1	NLRP9	19	56226588	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	326924	56226588	2902395	1506	35781										
NLRP11	204801	genome.wustl.edu	37	chr19	56307519	56307519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catcccgtcgctcctcagcgGattgctggataaggtcagtt	11	12	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:56307519G>A	ENST00000589093.1	-	6	2362	c.2269C>T	c.(2269-2271)Ccg>Tcg	p.P757S	NLRP11_ENST00000360133.3_Missense_Mutation_p.P703S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P703S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P658S|NLRP11_ENST00000443188.1_Missense_Mutation_p.P757S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	757							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCCTCAGCGGATTGCTGGAT	0.498																																																	0													188	165	173					19																	56307519		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2269C>T	19.37:g.56307519G>A	ENSP00000466285:p.Pro757Ser		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P757S	ENST00000589093.1	37	c.2269	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	G	0.731	-0.779911	0.02929	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.12774	2.65;2.65	2.58	0.134	0.14771	.	.	.	.	.	T	0.10594	0.0259	L	0.37850	1.14	0.09310	N	1	B;P	0.36222	0.409;0.544	B;B	0.40825	0.254;0.341	T	0.30765	-0.9967	9	0.08179	T	0.78	.	8.1529	0.31152	0.0:0.4935:0.5065:0.0	.	757;703	P59045;P59045-2	NAL11_HUMAN;.	S	757;703	ENSP00000409898:P757S;ENSP00000353251:P703S	ENSP00000353251:P703S	P	-	1	0	NLRP11	60999331	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.163000	0.09997	0.115000	0.18071	0.609000	0.83330	CCG	NLRP11	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.498	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	G	NM_145007		56307519	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56307519	G	A	56307519	3	1	185	1	0	0	0	0	1	0	0	0	10497	1174	41	1	852	1	NLRP11	19	56307519	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	80931	56307519	2821464	1507	35782										
ZFP28	140612	genome.wustl.edu	37	chr19	57065070	57065070	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caggccagcgatctgtacatGagacccaggaattatttcca	9	11	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:57065070G>A	ENST00000301318.3	+	8	987	c.916G>A	c.(916-918)Gag>Aag	p.E306K	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATCTGTACATGAGACCCAGGA	0.378																																					Ovarian(124;554 1662 19430 21141 52494)												0													64	60	61					19																	57065070		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.916G>A	19.37:g.57065070G>A	ENSP00000301318:p.Glu306Lys		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E306K	ENST00000301318.3	37	c.916	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030646	0.35797	.	.	ENSG00000196867	ENST00000301318	T	0.05513	3.43	4.82	3.73	0.42828	.	0.154659	0.30356	N	0.009811	T	0.04407	0.0121	N	0.17723	0.515	0.30011	N	0.81519	P	0.40970	0.734	B	0.40165	0.321	T	0.16541	-1.0399	10	0.07813	T	0.8	.	12.948	0.58384	0.0:0.1632:0.8368:0.0	.	306	Q8NHY6	ZFP28_HUMAN	K	306	ENSP00000301318:E306K	ENSP00000301318:E306K	E	+	1	0	ZFP28	61756882	0.013000	0.17824	0.836000	0.33094	0.532000	0.34746	1.664000	0.37439	2.493000	0.84123	0.655000	0.94253	GAG	ZFP28	-	NULL		0.378	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	G	NM_020828		57065070	1	no_errors	ENST00000301318	ensembl	human	known	70_37	missense	SNP	0.113	A	A	57065070	G	A	57065070	3	1	185	1	0	0	0	0	1	0	0	0	17672	1291	45	1	946	1	ZFP28	19	57065070	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	757551	57065070	2063913	1508	35783										
PEG3	5178	genome.wustl.edu	37	chr19	57325989	57325989	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtctctcttcggtctgacttCtctgaaactcagtgagggct	10	11	5	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:57325989C>G	ENST00000326441.9	-	10	4184	c.3821G>C	c.(3820-3822)aGa>aCa	p.R1274T	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1274T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R1150T|PEG3_ENST00000593695.1_Missense_Mutation_p.R1148T|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1274					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTCTGACTTCTCTGAAACTC	0.453																																																	0													67	58	61					19																	57325989		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3821G>C	19.37:g.57325989C>G	ENSP00000326581:p.Arg1274Thr		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R1274T	ENST00000326441.9	37	c.3821	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270911	0.40194	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03496	3.91;3.91	4.18	3.15	0.36227	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.422602	0.18562	N	0.137583	T	0.03695	0.0105	N	0.24115	0.695	.	.	.	P;P;P	0.48694	0.914;0.671;0.722	B;B;B	0.43623	0.425;0.107;0.154	T	0.33624	-0.9861	9	0.66056	D	0.02	-8.0131	10.4126	0.44303	0.0:0.9024:0.0:0.0976	.	1150;1274;1209	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	1274	ENSP00000326581:R1274T;ENSP00000403051:R1274T	ENSP00000326581:R1274T	R	-	2	0	ZIM2	62017801	0.000000	0.05858	0.149000	0.22428	0.758000	0.43043	0.519000	0.22862	1.357000	0.45904	0.655000	0.94253	AGA	PEG3	-	NULL		0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	C			57325989	-1	no_errors	ENST00000326441	ensembl	human	known	70_37	missense	SNP	0.901	G	G	57325989	C	G	57325989	3	3	185	1	0	0	0	0	1	0	0	0	11744	913	32	1	949	1	PEG3	19	57325989	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	260919	57325989	1802994	1509	35784										
ZNF550	162972	genome.wustl.edu	37	chr19	58058582	58058582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttccacatgccatgcaatCatagggcttctctccagtgt	7	13	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:58058582C>T	ENST00000457177.1	-	4	1210	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	ZNF550_ENST00000325134.5_Missense_Mutation_p.D312N|ZNF550_ENST00000506609.2_Missense_Mutation_p.D303N|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCATGCAATCATAGGGCTTC	0.483																																																	0													104	97	99					19																	58058582		2203	4300	6503	SO:0001583	missense	162972			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"Zinc fingers, C2H2-type"	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.1030G>A	19.37:g.58058582C>T	ENSP00000469679:p.Asp344Asn		B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D344N	ENST00000457177.1	37	c.1030		19	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837033	0.32421	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.35789	1.29;1.29	3.33	3.33	0.38152	.	.	.	.	.	T	0.25644	0.0624	N	0.21448	0.665	0.09310	N	1	B	0.29037	0.231	B	0.24848	0.056	T	0.18366	-1.0339	9	0.56958	D	0.05	-3.6461	12.013	0.53299	0.0:1.0:0.0:0.0	.	312	Q7Z398-2	.	N	344;312;303	ENSP00000446224:D312N;ENSP00000422344:D303N	ENSP00000446224:D312N	D	-	1	0	AC003682.1	62750394	0.000000	0.05858	0.124000	0.21820	0.984000	0.73092	-1.539000	0.02202	1.863000	0.54032	0.643000	0.83706	GAT	ZNF550	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.483	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ZNF550	HGNC	protein_coding	OTTHUMT00000257992.2	C	NM_153231		58058582	-1	no_errors	ENST00000376230	ensembl	human	known	70_37	missense	SNP	0.004	T	T	58058582	C	T	58058582	3	4	185	1	0	0	0	0	1	0	0	0	18012	826	29	1	242	1	ZNF550	19	58058582	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	732593	58058582	1070401	1510	35785										
ZNF587	84914	genome.wustl.edu	37	chr19	58370157	58370157	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaacaggagtggagcatgtgGaaaaaacttggatgacactg	14	5	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:58370157G>T	ENST00000339656.5	+	3	559	c.377G>T	c.(376-378)gGa>gTa	p.G126V	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.G83V|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.G126V|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000595295.1_3'UTR|ZNF587_ENST00000423137.1_Missense_Mutation_p.G125V|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GGAGCATGTGGAAAAAACTTG	0.448																																					Pancreas(59;641 1233 1885 20055 50741)												0													9	11	10					19																	58370157		1891	3868	5759	SO:0001583	missense	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.377G>T	19.37:g.58370157G>T	ENSP00000345479:p.Gly126Val		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G126V	ENST00000339656.5	37	c.377	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	9.510	1.105430	0.20632	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.37235	1.21;1.21;1.21	1.4	-1.53	0.08611	Zinc finger, C2H2 (1);	.	.	.	.	T	0.35158	0.0922	M	0.78223	2.4	0.28034	N	0.9340040000000001	B;P	0.35923	0.41;0.528	B;B	0.37780	0.122;0.258	T	0.39702	-0.9601	8	0.54805	T	0.06	.	3.9434	0.09338	0.1851:0.2471:0.5678:0.0	.	125;126	G3V0H5;Q96SQ5	.;ZN587_HUMAN	V	83;125;126;126;83	ENSP00000393865:G125V;ENSP00000345479:G126V;ENSP00000406999:G83V	ENSP00000345479:G126V	G	+	2	0	ZNF587	63061969	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.172000	0.09868	-0.330000	0.08514	0.195000	0.17529	GGA	ZNF587	-	pfscan_Znf_C2H2		0.448	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	G	NM_032828		58370157	1	no_errors	ENST00000339656	ensembl	human	known	70_37	missense	SNP	0.009	T	T	58370157	G	T	58370157	3	4	185	1	0	0	0	0	1	0	0	0	18050	1174	41	3	387	3	ZNF587	19	58370157	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	311575	58370157	758826	1511	35786										
ZNF418	147686	genome.wustl.edu	37	chr19	58438080	58438080	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acccagagctgtcttgaaatGatttcccacattcattacat	5	11	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr19:58438080G>A	ENST00000396147.1	-	4	1760	c.1469C>T	c.(1468-1470)tCa>tTa	p.S490L	ZNF418_ENST00000599852.1_Missense_Mutation_p.S405L|ZNF418_ENST00000425570.3_Missense_Mutation_p.S511L|ZNF418_ENST00000595830.1_Missense_Mutation_p.S490L|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTCTTGAAATGATTTCCCACA	0.428																																																	0													142	145	144					19																	58438080		2201	4298	6499	SO:0001583	missense	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1469C>T	19.37:g.58438080G>A	ENSP00000379451:p.Ser490Leu		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S490L	ENST00000396147.1	37	c.1469	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	7.806	0.714738	0.15306	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.08008	3.14;3.14	2.38	-3.77	0.04346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08626	0.0214	M	0.75447	2.3	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.43540	-0.9385	9	0.72032	D	0.01	.	0.8446	0.01158	0.345:0.2645:0.2449:0.1456	.	490	Q8TF45	ZN418_HUMAN	L	490;511;456	ENSP00000379451:S490L;ENSP00000407039:S511L	ENSP00000379451:S490L	S	-	2	0	ZNF418	63129892	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.268000	0.01169	-0.936000	0.03723	-0.373000	0.07131	TCA	ZNF418	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	G	NM_133460		58438080	-1	no_errors	ENST00000396147	ensembl	human	known	70_37	missense	SNP	0.006	A	A	58438080	G	A	58438080	3	1	185	1	0	0	0	0	1	0	0	0	17925	1294	45	1	565	1	ZNF418	19	58438080	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	67923	58438080	690903	1512	35787										
C20orf46	55321	genome.wustl.edu	37	chr20	1161978	1161978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agatcatcccgctgggatcgGggcagtgaggagacaccccc	14	13	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:1161978G>A	ENST00000381894.3	-	2	956	c.285C>T	c.(283-285)ccC>ccT	p.P95P	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	95						integral component of membrane (GO:0016021)											GCTGGGATCGGGGCAGTGAGG	0.622																																																	0													49	58	54					20																	1161978		2202	4300	6502	SO:0001819	synonymous_variant	55321			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.285C>T	20.37:g.1161978G>A			D3DVW5	Silent	SNP	NULL	p.P95	ENST00000381894.3	37	c.285	CCDS13011.1	20																																																																																			TMEM74B	-	NULL		0.622	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74B	HGNC	protein_coding	OTTHUMT00000077496.2	G	NM_018354		1161978	-1	no_errors	ENST00000381894	ensembl	human	known	70_37	silent	SNP	0.851	A	A	1161978	G	A	1161978	2	1	185	1	0	0	0	0	0	0	0	1	2118	1219	43	4		4	C20orf46	20	1161978	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		1161978	61863542	1513	35788										
C20orf194	25943	genome.wustl.edu	37	chr20	3354736	3354736	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccatcccctccaatgccctCaagtgcaaaggcctgtacaa	6	16	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:3354736C>G	ENST00000252032.9	-	6	638	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	191										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CCAATGCCCTCAAGTGCAAAG	0.388																																																	0													148	135	139					20																	3354736		1883	4115	5998	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.571G>C	20.37:g.3354736C>G	ENSP00000252032:p.Glu191Gln		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	NULL	p.E191Q	ENST00000252032.9	37	c.571	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721178	0.89205	.	.	ENSG00000088854	ENST00000252032	T	0.32272	1.46	5.14	5.14	0.70334	.	0.058045	0.64402	D	0.000002	T	0.57975	0.2090	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.62329	-0.6877	10	0.87932	D	0	.	17.5279	0.87805	0.0:1.0:0.0:0.0	.	191	Q5TEA3	CT194_HUMAN	Q	191	ENSP00000252032:E191Q	ENSP00000252032:E191Q	E	-	1	0	C20orf194	3302736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.241000	0.78201	2.660000	0.90430	0.650000	0.86243	GAG	C20orf194	-	NULL		0.388	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	C	NM_001009984		3354736	-1	no_errors	ENST00000252032	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3354736	C	G	3354736	3	3	185	1	0	0	0	0	1	0	0	0	2104	835	29	1	3090	1	C20orf194	20	3354736	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2192758	3354736	59670784	1514	35789										
MAVS	57506	genome.wustl.edu	37	chr20	3842980	3842980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggccccctggagtcctcctCtgacctggcagccctcagcc	10	19	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:3842980C>G	ENST00000428216.2	+	5	673	c.545C>G	c.(544-546)tCt>tGt	p.S182C	MAVS_ENST00000358134.6_Silent_p.L124L|MAVS_ENST00000416600.2_Missense_Mutation_p.S41C	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	182					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAGTCCTCCTCTGACCTGGCA	0.577																																																	0													56	56	56					20																	3842980		2203	4300	6503	SO:0001583	missense	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.545C>G	20.37:g.3842980C>G	ENSP00000401980:p.Ser182Cys		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	NULL	p.S182C	ENST00000428216.2	37	c.545	CCDS33437.1	20	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584700	0.65992	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.41065	1.01;1.93	4.16	2.15	0.27550	.	0.235716	0.27715	N	0.018150	T	0.46964	0.1420	L	0.42245	1.32	0.18873	N	0.999984	D	0.59767	0.986	P	0.57720	0.826	T	0.30880	-0.9963	10	0.46703	T	0.11	-9.4808	10.482	0.44700	0.0:0.6156:0.3844:0.0	.	182	Q7Z434	MAVS_HUMAN	C	41;182	ENSP00000413749:S41C;ENSP00000401980:S182C	ENSP00000413749:S41C	S	+	2	0	MAVS	3790980	0.075000	0.21258	0.284000	0.24805	0.507000	0.33981	1.602000	0.36783	0.658000	0.30925	-0.175000	0.13238	TCT	MAVS	-	NULL		0.577	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	HGNC	protein_coding	OTTHUMT00000077784.3	C	NM_020746		3842980	1	no_errors	ENST00000428216	ensembl	human	known	70_37	missense	SNP	0.375	G	G	3842980	C	G	3842980	3	3	185	1	0	0	0	0	1	0	0	0	9361	913	32	1	559	1	MAVS	20	3842980	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	488244	3842980	59182540	1515	35790										
MAVS	57506	genome.wustl.edu	37	chr20	3846609	3846609	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accccagcatccagctcctgGagggcaaccctgggccacct	10	18	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:3846609G>C	ENST00000428216.2	+	7	1566	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.E339Q	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	480					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCAGCTCCTGGAGGGCAACCC	0.662																																																	0													37	42	40					20																	3846609		2203	4300	6503	SO:0001583	missense	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1438G>C	20.37:g.3846609G>C	ENSP00000401980:p.Glu480Gln		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	NULL	p.E480Q	ENST00000428216.2	37	c.1438	CCDS33437.1	20	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482322	0.44147	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.32753	1.44;2.46	4.41	3.44	0.39384	.	2.179600	0.01488	N	0.016969	T	0.39332	0.1074	L	0.46157	1.445	0.09310	N	1	P	0.49090	0.919	P	0.49276	0.605	T	0.20571	-1.0271	10	0.28530	T	0.3	0.0323	9.5026	0.39026	0.0:0.0:0.7803:0.2197	.	480	Q7Z434	MAVS_HUMAN	Q	339;480	ENSP00000413749:E339Q;ENSP00000401980:E480Q	ENSP00000413749:E339Q	E	+	1	0	MAVS	3794609	0.055000	0.20627	0.003000	0.11579	0.012000	0.07955	2.512000	0.45485	1.399000	0.46721	0.655000	0.94253	GAG	MAVS	-	NULL		0.662	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	HGNC	protein_coding	OTTHUMT00000077784.3	G	NM_020746		3846609	1	no_errors	ENST00000428216	ensembl	human	known	70_37	missense	SNP	0.003	C	C	3846609	G	C	3846609	3	2	185	1	0	0	0	0	1	0	0	0	9361	1175	41	1	1460	1	MAVS	20	3846609	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3629	3846609	59178911	1516	35791										
SMOX	54498	genome.wustl.edu	37	chr20	4168036	4168036	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	attgagatgtaccgagacctCttccagcaggggacctgagg	13	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:4168036C>G	ENST00000305958.4	+	7	1875	c.1650C>G	c.(1648-1650)ctC>ctG	p.L550L	SMOX_ENST00000379460.2_Silent_p.L550L|SMOX_ENST00000339123.6_Silent_p.L497L|SMOX_ENST00000278795.3_Silent_p.L527L|SMOX_ENST00000346595.2_Silent_p.L185L	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	550					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.L550L(1)|p.L527L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	ACCGAGACCTCTTCCAGCAGG	0.637																																																	2	Substitution - coding silent(2)	large_intestine(2)											63	56	58					20																	4168036		2203	4300	6503	SO:0001819	synonymous_variant	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1650C>G	20.37:g.4168036C>G			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom	p.L550	ENST00000305958.4	37	c.1650	CCDS13075.1	20																																																																																			SMOX	-	NULL		0.637	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOX	HGNC	protein_coding	OTTHUMT00000077806.1	C	NM_175842		4168036	1	no_errors	ENST00000305958	ensembl	human	known	70_37	silent	SNP	1.000	G	G	4168036	C	G	4168036	2	3	185	1	0	0	0	0	0	0	0	1	14833	900	32	1		1	SMOX	20	4168036	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	321427	4168036	58857484	1517	35792										
CDS2	8760	genome.wustl.edu	37	chr20	5169736	5169736	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acggtccggatgtaccccttCcagattcacagcatcgctct	8	15	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:5169736C>T	ENST00000460006.1	+	11	1312	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Silent_p.F105F|CDS2_ENST00000379062.4_Silent_p.F215F	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	335					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TGTACCCCTTCCAGATTCACA	0.453																																																	0													173	161	165					20																	5169736		2203	4300	6503	SO:0001819	synonymous_variant	8760			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1005C>T	20.37:g.5169736C>T			B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.F335	ENST00000460006.1	37	c.1005	CCDS13088.1	20																																																																																			CDS2	-	pfam_PC_trans,pirsf_PC_Trfase_euk		0.453	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2	C			5169736	1	no_errors	ENST00000460006	ensembl	human	known	70_37	silent	SNP	1.000	T	T	5169736	C	T	5169736	2	4	185	1	0	0	0	0	0	0	0	1	3183	854	30	1		1	CDS2	20	5169736	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1001700	5169736	57855784	1518	35793										
C20orf196	149840	genome.wustl.edu	37	chr20	5753632	5753632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccagccaagaagccaacagcGaggctttcagttctttggaa	10	11	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:5753632G>A	ENST00000303142.6	+	2	208	c.121G>A	c.(121-123)Gag>Aag	p.E41K	C20orf196_ENST00000378979.4_Missense_Mutation_p.E41K	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	41								p.E41Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGCCAACAGCGAGGCTTTCAG	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											159	154	156					20																	5753632		2203	4300	6503	SO:0001583	missense	149840			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.121G>A	20.37:g.5753632G>A	ENSP00000305875:p.Glu41Lys		A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	NULL	p.E41K	ENST00000303142.6	37	c.121	CCDS13091.1	20	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355050	0.41700	.	.	ENSG00000171984	ENST00000378979;ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185;ENST00000541651	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.96	5.01	0.66863	.	0.719070	0.12803	N	0.437788	T	0.42562	0.1208	L	0.38531	1.155	0.09310	N	1	D	0.56287	0.975	P	0.45474	0.482	T	0.25257	-1.0137	10	0.49607	T	0.09	-2.4911	10.2677	0.43464	0.0918:0.0:0.9082:0.0	.	41	Q8IYI0	CT196_HUMAN	K	41;41;41;41;88;88	ENSP00000368263:E41K;ENSP00000305875:E41K;ENSP00000399331:E41K;ENSP00000410534:E88K	ENSP00000305875:E41K	E	+	1	0	C20orf196	5701632	0.104000	0.21937	0.005000	0.12908	0.856000	0.48823	2.238000	0.43070	1.496000	0.48567	0.650000	0.86243	GAG	C20orf196	-	NULL		0.448	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf196	HGNC	protein_coding	OTTHUMT00000077882.2	G	NM_152504		5753632	1	no_errors	ENST00000303142	ensembl	human	known	70_37	missense	SNP	0.017	A	A	5753632	G	A	5753632	3	1	185	1	0	0	0	0	1	0	0	0	2106	1059	37	1	123	1	C20orf196	20	5753632	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	583896	5753632	57271888	1519	35794										
LRRN4	164312	genome.wustl.edu	37	chr20	6033301	6033301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atccgcggcgggcagcccctCgcagggcgagtcggtggcgt	18	14	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:6033301C>T	ENST00000378858.4	-	2	369	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	49					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGCAGCCCCTCGCAGGGCGAG	0.731																																																	0													5	6	5					20																	6033301		1801	3651	5452	SO:0001583	missense	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.145G>A	20.37:g.6033301C>T	ENSP00000368135:p.Glu49Lys		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E49K	ENST00000378858.4	37	c.145	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067738	0.36470	.	.	ENSG00000125872	ENST00000378858	T	0.57436	0.4	5.42	2.42	0.29668	.	0.620936	0.15267	N	0.271485	T	0.29945	0.0749	L	0.35288	1.05	0.09310	N	1	B;P	0.39352	0.349;0.669	B;B	0.25140	0.058;0.058	T	0.10706	-1.0618	10	0.14252	T	0.57	-5.7675	7.5962	0.28050	0.0:0.6102:0.2528:0.137	.	49;49	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	K	49	ENSP00000368135:E49K	ENSP00000368135:E49K	E	-	1	0	LRRN4	5981301	0.734000	0.28142	0.671000	0.29857	0.525000	0.34531	1.224000	0.32539	0.345000	0.23873	-0.224000	0.12420	GAG	LRRN4	-	NULL		0.731	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	C	NM_152611		6033301	-1	no_errors	ENST00000378858	ensembl	human	known	70_37	missense	SNP	0.171	T	T	6033301	C	T	6033301	3	4	185	1	0	0	0	0	1	0	0	0	9060	893	31	1	2093	1	LRRN4	20	6033301	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	279669	6033301	56992219	1520	35795										
PLCB1	23236	genome.wustl.edu	37	chr20	8130983	8130983	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttattttgaggactgaccctCagggatttttcttttactgg	9	7	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:8130983C>G	ENST00000338037.6	+	2	169	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	PLCB1_ENST00000378641.3_Missense_Mutation_p.Q48E|PLCB1_ENST00000378637.2_Missense_Mutation_p.Q48E	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	48					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GACTGACCCTCAGGGATTTTT	0.318																																																	0													76	76	76					20																	8130983		2203	4292	6495	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.142C>G	20.37:g.8130983C>G	ENSP00000338185:p.Gln48Glu		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.Q48E	ENST00000338037.6	37	c.142	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591446	0.46214	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.76	5.76	0.90799	.	0.154257	0.41500	D	0.000867	T	0.28532	0.0706	N	0.14661	0.345	0.31758	N	0.633748	B;B;B	0.23806	0.007;0.001;0.091	B;B;B	0.26969	0.014;0.0;0.075	T	0.26849	-1.0091	10	0.35671	T	0.21	.	13.4856	0.61364	0.1563:0.8436:0.0:0.0	.	48;48;47	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	E	48;48;48;47	ENSP00000367908:Q48E;ENSP00000338185:Q48E;ENSP00000367904:Q48E;ENSP00000384001:Q47E	ENSP00000338185:Q48E	Q	+	1	0	PLCB1	8078983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.006000	0.40874	2.715000	0.92844	0.561000	0.74099	CAG	PLCB1	-	pirsf_PLC-beta		0.318	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	C			8130983	1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	G	G	8130983	C	G	8130983	3	3	185	1	0	0	0	0	1	0	0	0	12051	827	29	1	148	1	PLCB1	20	8130983	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2097682	8130983	54894537	1521	35796										
PLCB1	23236	genome.wustl.edu	37	chr20	8745835	8745835	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagcaacagaaatcgtttgtGaaacttcaaaagaaacacta	6	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:8745835G>A	ENST00000338037.6	+	26	2787	c.2760G>A	c.(2758-2760)gtG>gtA	p.V920V	PLCB1_ENST00000378637.2_Silent_p.V920V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Silent_p.V920V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	920					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AATCGTTTGTGAAACTTCAAA	0.393																																																	0													81	76	77					20																	8745835		2203	4300	6503	SO:0001819	synonymous_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2760G>A	20.37:g.8745835G>A			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.V920	ENST00000338037.6	37	c.2760	CCDS13102.1	20																																																																																			PLCB1	-	pirsf_PLC-beta		0.393	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8745835	1	no_errors	ENST00000338037	ensembl	human	known	70_37	silent	SNP	0.995	A	A	8745835	G	A	8745835	2	1	185	1	0	0	0	0	0	0	0	1	12051	1277	45	1		1	PLCB1	20	8745835	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	614852	8745835	54279685	1522	35797										
SLC24A3	57419	genome.wustl.edu	37	chr20	19634743	19634743	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggtgcctgctgagggattCtatttactacacgctgtctg	11	10	2	1	rs147680736	byFrequency	TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:19634743C>T	ENST00000328041.6	+	7	847	c.650C>T	c.(649-651)tCt>tTt	p.S217F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	217					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAGGGATTCTATTTACTAC	0.512																																																	0													263	185	212					20																	19634743		2203	4300	6503	SO:0001583	missense	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.650C>T	20.37:g.19634743C>T	ENSP00000333519:p.Ser217Phe		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.S217F	ENST00000328041.6	37	c.650	CCDS13140.1	20	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853196	0.71719	.	.	ENSG00000185052	ENST00000328041	T	0.61158	0.13	5.77	5.77	0.91146	Sodium/calcium exchanger membrane region (1);	0.051355	0.85682	D	0.000000	T	0.71426	0.3338	L	0.60957	1.885	0.58432	D	0.999999	D	0.61697	0.99	D	0.69479	0.964	T	0.69491	-0.5131	9	.	.	.	.	15.4857	0.75564	0.0:1.0:0.0:0.0	.	217	Q9HC58	NCKX3_HUMAN	F	217	ENSP00000333519:S217F	.	S	+	2	0	SLC24A3	19582743	0.990000	0.36364	0.861000	0.33841	0.774000	0.43823	4.136000	0.58004	2.726000	0.93360	0.643000	0.83706	TCT	SLC24A3	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger		0.512	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	C	NM_020689		19634743	1	no_errors	ENST00000328041	ensembl	human	known	70_37	missense	SNP	0.979	T	T	19634743	C	T	19634743	3	4	185	1	0	0	0	0	1	0	0	0	14497	913	32	1	676	1	SLC24A3	20	19634743	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10888908	19634743	43390777	1523	35798										
THBD	7056	genome.wustl.edu	37	chr20	23029751	23029751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcacaacgggccgcagagggGagccccattgaggtcgagcc	16	13	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:23029751G>A	ENST00000377103.2	-	1	627	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	131	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CCGCAGAGGGGAGCCCCATTG	0.672																																																	0													19	13	15					20																	23029751		2167	4245	6412	SO:0001583	missense	7056				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.391C>T	20.37:g.23029751G>A	ENSP00000366307:p.Pro131Ser		Q8IV29|Q9UC32	Missense_Mutation	SNP	pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_C-type_lectin,prints_Thrombomodulin	p.P131S	ENST00000377103.2	37	c.391	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	G	6.439	0.449122	0.12223	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.78816	-1.21	5.71	2.59	0.31030	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.443316	0.19328	U	0.116966	T	0.69584	0.3127	M	0.74258	2.255	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.59101	-0.7517	10	0.38643	T	0.18	-10.3976	1.3298	0.02132	0.1668:0.1993:0.3966:0.2373	.	131	P07204	TRBM_HUMAN	S	131;113	ENSP00000366307:P131S	ENSP00000366307:P131S	P	-	1	0	THBD	22977751	0.998000	0.40836	0.216000	0.23742	0.174000	0.22865	3.307000	0.51888	1.422000	0.47177	0.549000	0.68633	CCC	THBD	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_CD93/CD141,pfscan_C-type_lectin		0.672	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2	G			23029751	-1	no_errors	ENST00000377103	ensembl	human	known	70_37	missense	SNP	0.045	A	A	23029751	G	A	23029751	3	1	185	1	0	0	0	0	1	0	0	0	15882	1174	41	1	1340	1	THBD	20	23029751	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3395008	23029751	39995769	1524	35799										
ACSS1	84532	genome.wustl.edu	37	chr20	25038603	25038603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctgctgctgcaactgcggGagcgctgcccgagggtcccg	16	14	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:25038603G>A	ENST00000323482.4	-	1	215	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	ACSS1_ENST00000376726.3_Missense_Mutation_p.P46S|ACSS1_ENST00000432802.2_Missense_Mutation_p.P46S	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	46	Poly-Ala.				acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAACTGCGGGAGCGCTGCCC	0.781																																																	0													5	6	6					20																	25038603		2062	4111	6173	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.136C>T	20.37:g.25038603G>A	ENSP00000316924:p.Pro46Ser		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.P46S	ENST00000323482.4	37	c.136	CCDS13167.1	20	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200522	0.58126	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000432802;ENST00000376726	T;T;T	0.20738	2.05;2.05;2.05	3.03	-0.512	0.11966	.	2.143740	0.02374	N	0.078169	T	0.10294	0.0252	N	0.08118	0	0.54753	D	0.999984	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.32214	-0.9915	10	0.25106	T	0.35	-18.9136	3.1168	0.06377	0.2837:0.23:0.4862:0.0	.	46;46;46	E9PC79;Q9NUB1-2;Q9NUB1	.;.;ACS2L_HUMAN	S	46	ENSP00000316924:P46S;ENSP00000388793:P46S;ENSP00000365916:P46S	ENSP00000316924:P46S	P	-	1	0	ACSS1	24986603	0.060000	0.20803	0.110000	0.21437	0.131000	0.20780	0.118000	0.15605	0.151000	0.19162	0.313000	0.20887	CCC	ACSS1	-	NULL		0.781	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	G	NM_032501		25038603	-1	no_errors	ENST00000323482	ensembl	human	known	70_37	missense	SNP	0.744	A	A	25038603	G	A	25038603	3	1	185	1	0	0	0	0	1	0	0	0	188	1174	41	1	1989	1	ACSS1	20	25038603	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2008852	25038603	37986917	1525	35800										
NINL	22981	genome.wustl.edu	37	chr20	25459789	25459789	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcctgctccatgtccttcctCtccttctcaaagttcctttt	4	16	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:25459789C>T	ENST00000278886.6	-	16	2044	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	NINL_ENST00000422516.1_Silent_p.E657E	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	657					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGTCCTTCCTCTCCTTCTCAA	0.542																																																	0													88	84	85					20																	25459789		2203	4300	6503	SO:0001819	synonymous_variant	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1971G>A	20.37:g.25459789C>T			A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E657	ENST00000278886.6	37	c.1971	CCDS33452.1	20																																																																																			NINL	-	NULL		0.542	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25459789	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	silent	SNP	0.988	T	T	25459789	C	T	25459789	2	4	185	1	0	0	0	0	0	0	0	1	10444	912	32	1		1	NINL	20	25459789	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	421186	25459789	37565731	1526	35801										
HCK	3055	genome.wustl.edu	37	chr20	30659523	30659523	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcaatacattctcaaaaactGaaaccagcgccagcccacac	5	15	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:30659523G>A	ENST00000520553.1	+	2	304	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	HCK_ENST00000534862.1_Missense_Mutation_p.E21K|HCK_ENST00000518730.1_Missense_Mutation_p.E20K|HCK_ENST00000538448.1_Missense_Mutation_p.E20K|HCK_ENST00000375862.2_Missense_Mutation_p.E41K|HCK_ENST00000375852.2_Missense_Mutation_p.E41K	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	41					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CTCAAAAACTGAAACCAGCGC	0.582																																																	0													118	97	104					20																	30659523		2203	4300	6503	SO:0001583	missense	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.58G>A	20.37:g.30659523G>A	ENSP00000429848:p.Glu20Lys		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E41K	ENST00000520553.1	37	c.121	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886750	0.33348	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.73;-0.74	4.28	3.29	0.37713	.	0.224852	0.27206	N	0.020427	T	0.58148	0.2102	L	0.27053	0.805	0.09310	N	1	B;B	0.14012	0.005;0.009	B;B	0.19391	0.025;0.007	T	0.39482	-0.9612	10	0.16896	T	0.51	.	9.9746	0.41774	0.0:0.2065:0.7935:0.0	.	20;41	P08631-3;P08631	.;HCK_HUMAN	K	21;20;41;20;20;41	ENSP00000444986:E21K;ENSP00000441169:E20K;ENSP00000365022:E41K;ENSP00000429848:E20K;ENSP00000427757:E20K;ENSP00000365012:E41K	ENSP00000365012:E41K	E	+	1	0	HCK	30123184	0.972000	0.33761	0.022000	0.16811	0.125000	0.20455	2.270000	0.43355	1.099000	0.41499	0.305000	0.20034	GAA	HCK	-	NULL		0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1	G			30659523	1	no_errors	ENST00000375852	ensembl	human	known	70_37	missense	SNP	0.028	A	A	30659523	G	A	30659523	3	1	185	1	0	0	0	0	1	0	0	0	7014	1291	45	1	133	1	HCK	20	30659523	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5199734	30659523	32365997	1527	35802										
BPIL3	128859	genome.wustl.edu	37	chr20	31622596	31622596	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggagggaacatggagatcatCgtggccctgaacatcacagc	13	10	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:31622596C>T	ENST00000349552.1	+	4	330	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	110						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGGAGATCATCGTGGCCCTGA	0.592																																																	0													104	85	92					20																	31622596		2203	4300	6503	SO:0001819	synonymous_variant	128859			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.330C>T	20.37:g.31622596C>T				Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.I110	ENST00000349552.1	37	c.330	CCDS13211.1	20																																																																																			BPIFB6	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom		0.592	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB6	HGNC	protein_coding	OTTHUMT00000078658.2	C	NM_174897		31622596	1	no_errors	ENST00000349552	ensembl	human	known	70_37	silent	SNP	0.392	T	T	31622596	C	T	31622596	2	4	185	1	0	0	0	0	0	0	0	1	1496	874	31	1		1	BPIL3	20	31622596	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	963073	31622596	31402924	1528	35803										
C20orf185	359710	genome.wustl.edu	37	chr20	31656710	31656710	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagaaggccttggtctccctCccagccaacatccatgtgct	8	15	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:31656710C>T	ENST00000375494.3	+	10	1080	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	360					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGGTCTCCCTCCCAGCCAACA	0.612																																																	0													131	95	107					20																	31656710		2203	4300	6503	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1080C>T	20.37:g.31656710C>T			Q5TDX7	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L360	ENST00000375494.3	37	c.1080	CCDS13212.1	20																																																																																			BPIFB3	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.612	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	C	NM_182658		31656710	1	no_errors	ENST00000375494	ensembl	human	known	70_37	silent	SNP	0.889	T	T	31656710	C	T	31656710	2	4	185	1	0	0	0	0	0	0	0	1	2102	842	30	1		1	C20orf185	20	31656710	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	34114	31656710	31368810	1529	35804										
C20orf152	140894	genome.wustl.edu	37	chr20	34599162	34599162	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgtgaaggtgcacactgtgGagcagggagaaattttggtg	16	5	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:34599162G>C	ENST00000373973.3	+	10	1425	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	CNBD2_ENST00000538900.1_Missense_Mutation_p.E418Q|CNBD2_ENST00000349339.1_Missense_Mutation_p.E418Q			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	418																	GCACACTGTGGAGCAGGGAGA	0.498																																																	0													83	76	78					20																	34599162		2203	4300	6503	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1252G>C	20.37:g.34599162G>C	ENSP00000363084:p.Glu418Gln		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E418Q	ENST00000373973.3	37	c.1252		20	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573103	0.28092	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.42900	0.96;0.96;2.61	4.83	4.83	0.62350	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.445225	0.21729	N	0.069990	T	0.44008	0.1273	M	0.69823	2.125	0.33008	D	0.527081	B;P	0.34462	0.325;0.454	B;B	0.33890	0.083;0.172	T	0.61589	-0.7032	10	0.56958	D	0.05	-29.9759	13.6212	0.62138	0.0:0.0:1.0:0.0	.	418;418	Q96M20;Q96M20-2	CT152_HUMAN;.	Q	418	ENSP00000363084:E418Q;ENSP00000340954:E418Q;ENSP00000442729:E418Q	ENSP00000340954:E418Q	E	+	1	0	C20orf152	34062576	1.000000	0.71417	0.998000	0.56505	0.349000	0.29174	1.543000	0.36147	2.673000	0.90976	0.655000	0.94253	GAG	CNBD2	-	superfamily_cNMP-bd-like		0.498	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834		34599162	1	no_errors	ENST00000373973	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34599162	G	C	34599162	3	2	185	1	0	0	0	0	1	0	0	0	2097	1175	41	1	1290	1	C20orf152	20	34599162	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2942452	34599162	28426358	1530	35805										
NDRG3	57446	genome.wustl.edu	37	chr20	35350135	35350135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgaacatcctgaagttcatCcatgaggtcagataacgaga	9	9	2	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:35350135C>T	ENST00000349004.1	-	2	85	c.4G>A	c.(4-6)Gat>Aat	p.D2N	NDRG3_ENST00000359675.2_Missense_Mutation_p.D2N|NDRG3_ENST00000373773.3_5'UTR|NDRG3_ENST00000540765.1_5'UTR|NDRG3_ENST00000373803.2_Missense_Mutation_p.D2N	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	2					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TGAAGTTCATCCATGAGGTCA	0.363																																																	0													88	88	88					20																	35350135		2203	4300	6503	SO:0001583	missense	57446			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.4G>A	20.37:g.35350135C>T	ENSP00000345292:p.Asp2Asn		A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	pfam_Ndr,pfam_AB_hydrolase_1	p.D2N	ENST00000349004.1	37	c.4	CCDS13285.1	20	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106766	0.56291	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675	T;T;T	0.20069	2.17;2.19;2.1	5.07	5.07	0.68467	.	0.294990	0.38959	N	0.001520	T	0.19927	0.0479	L	0.36672	1.1	0.80722	D	1	P;B	0.41848	0.763;0.181	B;B	0.42282	0.382;0.036	T	0.01305	-1.1390	10	0.30854	T	0.27	.	13.8056	0.63230	0.0:1.0:0.0:0.0	.	2;2	Q9UGV2-2;Q9UGV2	.;NDRG3_HUMAN	N	2	ENSP00000345292:D2N;ENSP00000362909:D2N;ENSP00000352703:D2N	ENSP00000345292:D2N	D	-	1	0	NDRG3	34783549	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.894000	0.56250	2.628000	0.89032	0.655000	0.94253	GAT	NDRG3	-	NULL		0.363	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDRG3	HGNC	protein_coding	OTTHUMT00000079053.2	C			35350135	-1	no_errors	ENST00000349004	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35350135	C	T	35350135	3	4	185	1	0	0	0	0	1	0	0	0	10277	855	30	1	1183	1	NDRG3	20	35350135	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	750973	35350135	27675385	1531	35806										
C20orf117	140710	genome.wustl.edu	37	chr20	35415003	35415003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggacgatcgggcgaagcagGaggtgagagactgggtacta	19	6	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:35415003G>A	ENST00000357779.3	-	15	4483	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F	SOGA1_ENST00000237536.4_Missense_Mutation_p.S1624F|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000456801.2_Missense_Mutation_p.S1227F			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1386					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGCGAAGCAGGAGGTGAGAGA	0.612																																																	0													92	100	97					20																	35415003		692	1591	2283	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.4157C>T	20.37:g.35415003G>A	ENSP00000350424:p.Ser1386Phe		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_DUF3166	p.S1386F	ENST00000357779.3	37	c.4157		20	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415767	0.62511	.	.	ENSG00000149639	ENST00000237536;ENST00000456801;ENST00000357779	T;T;T	0.26223	1.75;1.81;1.79	4.92	4.92	0.64577	.	0.118379	0.64402	D	0.000016	T	0.41236	0.1150	L	0.52573	1.65	0.49483	D	0.999794	.	.	.	.	.	.	T	0.22208	-1.0223	8	0.72032	D	0.01	-26.8974	17.0615	0.86548	0.0:0.0:1.0:0.0	.	.	.	.	F	1624;1227;1386	ENSP00000237536:S1624F;ENSP00000413886:S1227F;ENSP00000350424:S1386F	ENSP00000237536:S1624F	S	-	2	0	KIAA0889	34848417	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.175000	0.77632	2.576000	0.86940	0.462000	0.41574	TCC	SOGA1	-	NULL		0.612	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		G	NM_199181		35415003	-1	no_errors	ENST00000357779	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35415003	G	A	35415003	3	1	185	1	0	0	0	0	1	0	0	0	2088	1174	41	1	180	1	C20orf117	20	35415003	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	64868	35415003	27610517	1532	35807										
PPP1R16B	26051	genome.wustl.edu	37	chr20	37531352	37531352	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acgagatgcgggtggctcctGagcagcagatgattgcggac	16	9	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:37531352G>A	ENST00000299824.1	+	6	802	c.613G>A	c.(613-615)Gag>Aag	p.E205K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E205K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	205					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGTGGCTCCTGAGCAGCAGAT	0.587																																																	0													121	101	108					20																	37531352		2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.613G>A	20.37:g.37531352G>A	ENSP00000299824:p.Glu205Lys		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E205K	ENST00000299824.1	37	c.613	CCDS13309.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.530921	0.96446	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.52754	0.65;0.65	4.42	4.42	0.53409	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.71052	-0.4704	10	0.48119	T	0.1	.	17.5774	0.87955	0.0:0.0:1.0:0.0	.	205;205	E9PFS8;Q96T49	.;PP16B_HUMAN	K	205	ENSP00000299824:E205K;ENSP00000362428:E205K	ENSP00000299824:E205K	E	+	1	0	PPP1R16B	36964766	1.000000	0.71417	0.967000	0.41034	0.978000	0.69477	9.345000	0.97053	2.440000	0.82611	0.655000	0.94253	GAG	PPP1R16B	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom		0.587	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	G	NM_015568		37531352	1	no_errors	ENST00000299824	ensembl	human	known	70_37	missense	SNP	1.000	A	A	37531352	G	A	37531352	3	1	185	1	0	0	0	0	1	0	0	0	12393	1291	45	1	631	1	PPP1R16B	20	37531352	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2116349	37531352	25494168	1533	35808										
PLCG1	5335	genome.wustl.edu	37	chr20	39793956	39793956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgtactctgagaacgacatCagcaactctatcaagaatgg	8	9	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:39793956C>G	ENST00000373271.1	+	14	1863	c.1458C>G	c.(1456-1458)atC>atG	p.I486M	PLCG1_ENST00000244007.3_Missense_Mutation_p.I486M|PLCG1_ENST00000373272.2_Missense_Mutation_p.I486M	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	486					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGAACGACATCAGCAACTCTA	0.577																																																	0													106	97	100					20																	39793956		2203	4300	6503	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1458C>G	20.37:g.39793956C>G	ENSP00000362368:p.Ile486Met		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.I486M	ENST00000373271.1	37	c.1458	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378339	0.61735	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.68025	-0.3;-0.3;-0.3	5.13	3.19	0.36642	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	L	0.47190	1.495	0.80722	D	1	P;B;P	0.47034	0.889;0.215;0.823	P;B;P	0.56514	0.8;0.101;0.635	T	0.66555	-0.5894	10	0.40728	T	0.16	.	10.3061	0.43680	0.1349:0.7947:0.0:0.0704	.	486;486;486	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	M	486	ENSP00000244007:I486M;ENSP00000362368:I486M;ENSP00000362369:I486M	ENSP00000244007:I486M	I	+	3	3	PLCG1	39227370	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.430000	0.66501	0.746000	0.32786	-0.150000	0.13652	ATC	PLCG1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma		0.577	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	C	NM_182811		39793956	1	no_errors	ENST00000244007	ensembl	human	known	70_37	missense	SNP	1.000	G	G	39793956	C	G	39793956	3	3	185	1	0	0	0	0	1	0	0	0	12059	816	29	1	1512	1	PLCG1	20	39793956	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2262604	39793956	23231564	1534	35809										
TOMM34	10953	genome.wustl.edu	37	chr20	43580609	43580609	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggcagcttcaggcgccactCaggcccaagcgagtccatga	13	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:43580609C>G	ENST00000372813.3	-	4	567	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	139					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				AGGCGCCACTCAGGCCCAAGC	0.517																																																	0													83	73	76					20																	43580609		2203	4300	6503	SO:0001583	missense	10953			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"Tetratricopeptide (TTC) repeat domain containing"	15746	protein-coding gene	gene with protein product	"outer mitochondrial membrane translocase (34kD)"					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.415G>C	20.37:g.43580609C>G	ENSP00000361900:p.Glu139Gln		Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E139Q	ENST00000372813.3	37	c.415	CCDS13340.1	20	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558891	0.27827	.	.	ENSG00000025772	ENST00000372813	T	0.78126	-1.15	5.28	2.26	0.28386	.	0.394009	0.29225	N	0.012766	T	0.63414	0.2509	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.48433	-0.9036	10	0.28530	T	0.3	-11.1172	6.8306	0.23907	0.0:0.4162:0.4276:0.1562	.	139	Q15785	TOM34_HUMAN	Q	139	ENSP00000361900:E139Q	ENSP00000361900:E139Q	E	-	1	0	TOMM34	43014023	0.001000	0.12720	0.791000	0.31998	0.991000	0.79684	0.257000	0.18369	0.366000	0.24427	0.650000	0.86243	GAG	TOMM34	-	NULL		0.517	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	C	NM_006809		43580609	-1	no_errors	ENST00000372813	ensembl	human	known	70_37	missense	SNP	0.084	G	G	43580609	C	G	43580609	3	3	185	1	0	0	0	0	1	0	0	0	16387	835	29	1	530	1	TOMM34	20	43580609	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3786653	43580609	19444911	1535	35810										
MMP9	4318	genome.wustl.edu	37	chr20	44640260	44640260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgggaaaccctgccagtttCcattcatcttccaaggccaa	7	13	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:44640260C>A	ENST00000372330.3	+	6	890	c.871C>A	c.(871-873)Cca>Aca	p.P291T	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	291	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CTGCCAGTTTCCATTCATCTT	0.607											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112	102	105					20																	44640260		2203	4300	6503	SO:0001583	missense	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.871C>A	20.37:g.44640260C>A	ENSP00000361405:p.Pro291Thr	925	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.P291T	ENST00000372330.3	37	c.871	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775104	0.90108	.	.	ENSG00000100985	ENST00000372330	D	0.93488	-3.23	4.3	4.3	0.51218	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	D	0.97932	0.9320	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99297	1.0900	10	0.87932	D	0	.	16.3006	0.82807	0.0:1.0:0.0:0.0	.	291	P14780	MMP9_HUMAN	T	291	ENSP00000361405:P291T	ENSP00000361405:P291T	P	+	1	0	MMP9	44073667	1.000000	0.71417	0.787000	0.31911	0.944000	0.59088	7.508000	0.81686	2.395000	0.81488	0.561000	0.74099	CCA	MMP9	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.607	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	C			44640260	1	no_errors	ENST00000372330	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44640260	C	A	44640260	3	1	185	1	0	0	0	0	1	0	0	0	9692	855	30	3	893	3	MMP9	20	44640260	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1059651	44640260	18385260	1536	35811										
MMP9	4318	genome.wustl.edu	37	chr20	44640373	44640373	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cgggacaagctcttcggcttCtgcccgacccgaggtacctc	11	16	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:44640373C>T	ENST00000372330.3	+	6	1003	c.984C>T	c.(982-984)ttC>ttT	p.F328F	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	328	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F328L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCTTCGGCTTCTGCCCGACCC	0.637											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	urinary_tract(1)											53	47	49					20																	44640373		2203	4300	6503	SO:0001819	synonymous_variant	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.984C>T	20.37:g.44640373C>T		925	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.F328	ENST00000372330.3	37	c.984	CCDS13390.1	20																																																																																			MMP9	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	C			44640373	1	no_errors	ENST00000372330	ensembl	human	known	70_37	silent	SNP	1.000	T	T	44640373	C	T	44640373	2	4	185	1	0	0	0	0	0	0	0	1	9692	912	32	1		1	MMP9	20	44640373	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	113	44640373	18385147	1537	35812										
NCOA5	57727	genome.wustl.edu	37	chr20	44695767	44695767	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaagcgtctctggatttcctCaaaatattgacgataaagct	7	8	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:44695767C>T	ENST00000290231.6	-	5	720	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGGATTTCCTCAAAATATTGA	0.443																																																	0													114	105	108					20																	44695767		2203	4300	6503	SO:0001583	missense	57727				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.556G>A	20.37:g.44695767C>T	ENSP00000290231:p.Glu186Lys		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	superfamily_Anticodon-bd	p.E186K	ENST00000290231.6	37	c.556	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.763330	0.96906	.	.	ENSG00000124160	ENST00000290231;ENST00000372291	T	0.50548	0.74	5.4	5.4	0.78164	.	0.141437	0.64402	D	0.000006	T	0.45836	0.1362	L	0.57536	1.79	0.80722	D	1	B;P	0.37330	0.135;0.59	B;B	0.31614	0.121;0.133	T	0.51419	-0.8708	10	0.59425	D	0.04	-12.113	18.3484	0.90329	0.0:1.0:0.0:0.0	.	186;81	Q9HCD5;Q5JY17	NCOA5_HUMAN;.	K	186;81	ENSP00000290231:E186K	ENSP00000290231:E186K	E	-	1	0	NCOA5	44129174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.805000	0.96524	0.655000	0.94253	GAG	NCOA5	-	NULL		0.443	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	C	NM_020967		44695767	-1	no_errors	ENST00000290231	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44695767	C	T	44695767	3	4	185	1	0	0	0	0	1	0	0	0	10256	835	29	1	1199	1	NCOA5	20	44695767	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	55394	44695767	18329753	1538	35813										
PREX1	57580	genome.wustl.edu	37	chr20	47276504	47276504	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caccagcttgaagtcgttgcGaagctgtttgttcttgctgc	11	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:47276504G>C	ENST00000371941.3	-	16	1856	c.1834C>G	c.(1834-1836)Cgc>Ggc	p.R612G	PREX1_ENST00000396220.1_Missense_Mutation_p.R612G	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	612					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGTCGTTGCGAAGCTGTTTG	0.577																																																	0													175	135	148					20																	47276504		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1834C>G	20.37:g.47276504G>C	ENSP00000361009:p.Arg612Gly		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R612G	ENST00000371941.3	37	c.1834	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349424	0.82132	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.14144	2.53;2.53	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);PDZ/DHR/GLGF (1);	0.000000	0.56097	U	0.000036	T	0.16854	0.0405	L	0.57536	1.79	0.58432	D	0.999999	P	0.39391	0.671	B	0.32022	0.139	T	0.02320	-1.1177	10	0.72032	D	0.01	.	18.8514	0.92232	0.0:0.0:1.0:0.0	.	612	Q8TCU6	PREX1_HUMAN	G	612	ENSP00000361009:R612G;ENSP00000379522:R612G	ENSP00000361009:R612G	R	-	1	0	PREX1	46709911	1.000000	0.71417	0.911000	0.35937	0.951000	0.60555	5.115000	0.64655	2.544000	0.85801	0.505000	0.49811	CGC	PREX1	-	superfamily_PDZ		0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47276504	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	0.983	C	C	47276504	G	C	47276504	3	2	185	1	0	0	0	0	1	0	0	0	12503	1058	37	1	3245	1	PREX1	20	47276504	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2580737	47276504	15749016	1539	35814										
NFATC2	4773	genome.wustl.edu	37	chr20	50179163	50179163	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtctgaacgcagcctctctCtgcatctggagggcacgggg	14	12	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:50179163C>T	ENST00000414705.1	-	1	5	c.6G>A	c.(4-6)caG>caA	p.Q2Q	NFATC2_ENST00000609943.1_Silent_p.Q2Q|NFATC2_ENST00000609507.1_5'UTR			Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	0					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CAGCCTCTCTCTGCATCTGGA	0.612																																																	0													98	108	105					20																	50179163		692	1591	2283	SO:0001819	synonymous_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000414705.1:c.6G>A	20.37:g.50179163C>T			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.Q2	ENST00000414705.1	37	c.6	CCDS46614.1	20																																																																																			NFATC2	-	NULL		0.612	NFATC2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000472015.1	C	NM_012340		50179163	-1	no_errors	ENST00000414705	ensembl	human	known	70_37	silent	SNP	1.000	T	T	50179163	C	T	50179163	2	4	185	1	0	0	0	0	0	0	0	1	10386	912	32	1		1	NFATC2	20	50179163	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2902659	50179163	12846357	1540	35815										
ADRM1	11047	genome.wustl.edu	37	chr20	60882684	60882684	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtcggcagcggtcaccccgtCatccaccacctcttccaccc	7	21	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:60882684C>T	ENST00000253003.2	+	7	702	c.656C>T	c.(655-657)tCa>tTa	p.S219L	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_5'Flank	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	219	Ser-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GTCACCCCGTCATCCACCACC	0.701																																																	0													36	36	36					20																	60882684		2197	4296	6493	SO:0001583	missense	11047			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.656C>T	20.37:g.60882684C>T	ENSP00000253003:p.Ser219Leu		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.S219L	ENST00000253003.2	37	c.656	CCDS13496.1	20	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022024	0.54576	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.25	5.25	0.73442	.	0.222920	0.45867	D	0.000328	T	0.59932	0.2230	L	0.56769	1.78	0.50467	D	0.999877	P	0.44044	0.825	B	0.43413	0.419	T	0.65919	-0.6051	9	0.72032	D	0.01	-21.7972	16.6322	0.85037	0.0:1.0:0.0:0.0	.	219	Q16186	ADRM1_HUMAN	L	198;219	.	ENSP00000253003:S219L	S	+	2	0	ADRM1	60316079	0.999000	0.42202	0.976000	0.42696	0.432000	0.31715	5.188000	0.65093	2.451000	0.82905	0.561000	0.74099	TCA	ADRM1	-	pfam_26S_Psome_Ubiquitin-recp_Rpn13		0.701	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	C			60882684	1	no_errors	ENST00000253003	ensembl	human	known	70_37	missense	SNP	1.000	T	T	60882684	C	T	60882684	3	4	185	1	0	0	0	0	1	0	0	0	345	838	29	1	678	1	ADRM1	20	60882684	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10703521	60882684	2142836	1541	35816										
COL20A1	57642	genome.wustl.edu	37	chr20	61943400	61943400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtccagcgagggtggacactCggggcaggtgagagcagagc	19	9	0	2	rs45465106		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:61943400C>T	ENST00000358894.6	+	14	1896	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L	COL20A1_ENST00000326996.6_Missense_Mutation_p.S599L|COL20A1_ENST00000435874.1_Missense_Mutation_p.S606L|COL20A1_ENST00000422202.1_Missense_Mutation_p.S606L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	599	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGGACACTCGGGGCAGGTG	0.662																																																	0								C	LEU/SER	1,3871		0,1,1935	19	23	22		1796	2.8	0.7	20	dbSNP_127	22	4,8264		0,4,4130	no	missense	COL20A1	NM_020882.2	145	0,5,6065	TT,TC,CC		0.0484,0.0258,0.0412	possibly-damaging	599/1285	61943400	5,12135	1936	4134	6070	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1796C>T	20.37:g.61943400C>T	ENSP00000351767:p.Ser599Leu		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S599L	ENST00000358894.6	37	c.1796	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	C	2.910	-0.225608	0.06022	2.58E-4	4.84E-4	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	3.74	2.75	0.32379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.253542	0.32068	N	0.006631	T	0.32971	0.0847	L	0.27053	0.805	0.09310	N	1	B;B	0.31174	0.265;0.311	B;B	0.30855	0.074;0.121	T	0.11991	-1.0565	10	0.23891	T	0.37	.	5.9018	0.18970	0.0:0.7308:0.0:0.2692	rs45465106	606;599	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	599;599;606;606	ENSP00000351767:S599L;ENSP00000323077:S599L;ENSP00000408690:S606L;ENSP00000414753:S606L	ENSP00000323077:S599L	S	+	2	0	COL20A1	61413845	0.000000	0.05858	0.702000	0.30337	0.083000	0.17756	0.066000	0.14489	0.660000	0.30964	0.313000	0.20887	TCG	COL20A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	C	NM_020882		61943400	1	no_errors	ENST00000326996	ensembl	human	known	70_37	missense	SNP	0.005	T	T	61943400	C	T	61943400	3	4	185	1	0	0	0	0	1	0	0	0	3684	893	31	1	1846	1	COL20A1	20	61943400	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1060716	61943400	1082120	1542	35817										
ZGPAT	84619	genome.wustl.edu	37	chr20	62340158	62340158	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agcgcccgggccgccaggaaGatgctgagtaccaggctttc	14	13	0	2	rs201544347		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:62340158G>A	ENST00000328969.5	+	2	353	c.226G>A	c.(226-228)Gat>Aat	p.D76N	ARFRP1_ENST00000359715.5_5'Flank|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D76N|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D76N|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D76N|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D76N|ARFRP1_ENST00000609142.1_5'Flank|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ARFRP1_ENST00000324228.2_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	76					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCGCCAGGAAGATGCTGAGTA	0.652																																																	0													45	52	49					20																	62340158		2203	4300	6503	SO:0001583	missense	84619			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.226G>A	20.37:g.62340158G>A	ENSP00000332013:p.Asp76Asn		E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom	p.D76N	ENST00000328969.5	37	c.226	CCDS13534.1	20	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912438	0.33721	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.09	4.09	0.47781	.	0.837653	0.10503	N	0.667065	T	0.37348	0.1000	M	0.70595	2.14	0.09310	N	1	B;P;P	0.42961	0.326;0.795;0.754	B;B;B	0.32805	0.091;0.141;0.153	T	0.38478	-0.9659	10	0.59425	D	0.04	2.0974	14.5037	0.67739	0.0:0.0:1.0:0.0	.	76;76;76	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	N	76	ENSP00000391176:D76N;ENSP00000348242:D76N;ENSP00000349634:D76N;ENSP00000403966:D76N;ENSP00000358984:D76N;ENSP00000332013:D76N	ENSP00000332013:D76N	D	+	1	0	ZGPAT	61810602	0.935000	0.31712	0.004000	0.12327	0.034000	0.12701	3.244000	0.51399	1.832000	0.53329	0.561000	0.74099	GAT	ZGPAT	-	NULL		0.652	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	G	NM_181484		62340158	1	no_errors	ENST00000328969	ensembl	human	known	70_37	missense	SNP	0.028	A	A	62340158	G	A	62340158	3	1	185	1	0	0	0	0	1	0	0	0	17704	942	33	1	228	1	ZGPAT	20	62340158	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	396758	62340158	685362	1543	35818										
RGS19	10287	genome.wustl.edu	37	chr20	62705602	62705602	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agctcctcgcaggccaaccaGaagagcatgttctcctcgct	9	15	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr20:62705602G>A	ENST00000395042.1	-	5	623	c.357C>T	c.(355-357)ttC>ttT	p.F119F	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.F119F	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	119	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AGGCCAACCAGAAGAGCATGT	0.607																																																	0													89	73	79					20																	62705602		2203	4300	6503	SO:0001819	synonymous_variant	10287			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"Regulators of G-protein signaling"	13735	protein-coding gene	gene with protein product		605071	"regulator of G-protein signalling 19"			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.357C>T	20.37:g.62705602G>A			A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.F119	ENST00000395042.1	37	c.357	CCDS13555.1	20																																																																																			RGS19	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.607	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS19	HGNC	protein_coding	OTTHUMT00000080273.1	G	NM_005873		62705602	-1	no_errors	ENST00000332298	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62705602	G	A	62705602	2	1	185	1	0	0	0	0	0	0	0	1	13331	933	33	1		1	RGS19	20	62705602	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	365444	62705602	319918	1544	35819										
ADAMTS5	11096	genome.wustl.edu	37	chr21	28315804	28315804	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agacattaagcgcttatcttCtgtggaaccaaaggtctctt	8	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:28315804C>T	ENST00000284987.5	-	3	1421	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	434	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCTTATCTTCTGTGGAACCA	0.453																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0													106	94	98					21																	28315804		2203	4300	6503	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1300G>A	21.37:g.28315804C>T	ENSP00000284987:p.Glu434Lys		Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.E434K	ENST00000284987.5	37	c.1300	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454116	0.26161	.	.	ENSG00000154736	ENST00000284987	D	0.86366	-2.11	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.161315	0.64402	D	0.000014	T	0.71937	0.3399	N	0.03608	-0.345	0.34512	D	0.707241	B	0.27823	0.19	B	0.24006	0.05	T	0.70737	-0.4790	10	0.07030	T	0.85	.	19.4373	0.94801	0.0:1.0:0.0:0.0	.	434	Q9UNA0	ATS5_HUMAN	K	434	ENSP00000284987:E434K	ENSP00000284987:E434K	E	-	1	0	ADAMTS5	27237675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.499000	0.66937	2.828000	0.97474	0.650000	0.86243	GAA	ADAMTS5	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.453	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	C			28315804	-1	no_errors	ENST00000284987	ensembl	human	known	70_37	missense	SNP	1.000	T	T	28315804	C	T	28315804	3	4	185	1	0	0	0	0	1	0	0	0	269	922	32	1	1516	1	ADAMTS5	21	28315804	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		28315804	19814091	1545	35820										
KRTAP20-1	337975	genome.wustl.edu	37	chr21	31988907	31988907	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaatggctactactgcccatCttgctatggaagatattggt	9	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:31988907C>G	ENST00000334664.2	+	1	158	c.134C>G	c.(133-135)tCt>tGt	p.S45C	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	45						intermediate filament (GO:0005882)				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TACTGCCCATCTTGCTATGGA	0.468																																																	0													288	248	262					21																	31988907		2203	4300	6503	SO:0001583	missense	337975			AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"Keratin associated proteins"	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.134C>G	21.37:g.31988907C>G	ENSP00000335503:p.Ser45Cys			Missense_Mutation	SNP	pfam_KRTAP	p.S45C	ENST00000334664.2	37	c.134	CCDS13603.1	21	.	.	.	.	.	.	.	.	.	.	C	7.078	0.569669	0.13560	.	.	ENSG00000244624	ENST00000334664	T	0.12147	2.71	4.76	-3.61	0.04556	.	.	.	.	.	T	0.08044	0.0201	.	.	.	0.09310	N	1	B	0.17268	0.021	B	0.24701	0.055	T	0.43523	-0.9386	8	0.87932	D	0	.	0.3424	0.00335	0.2721:0.255:0.1338:0.3391	.	45	Q3LI63	KR201_HUMAN	C	45	ENSP00000335503:S45C	ENSP00000335503:S45C	S	+	2	0	KRTAP20-1	30910778	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.523000	0.06230	-0.500000	0.06614	0.643000	0.83706	TCT	KRTAP20-1	-	pfam_KRTAP		0.468	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP20-1	HGNC	protein_coding	OTTHUMT00000128253.3	C			31988907	1	no_errors	ENST00000334664	ensembl	human	known	70_37	missense	SNP	0.000	G	G	31988907	C	G	31988907	3	3	185	1	0	0	0	0	1	0	0	0	8556	913	32	1	136	1	KRTAP20-1	21	31988907	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	3673103	31988907	16140988	1546	35821										
GART	2618	genome.wustl.edu	37	chr21	34892738	34892738	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acaacagcttcagttacactGaggtcaagttttccacagga	8	10	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:34892738G>A	ENST00000381831.3	-	14	1898	c.1635C>T	c.(1633-1635)ctC>ctT	p.L545L	GART_ENST00000543717.1_Silent_p.L97L|GART_ENST00000381839.3_Silent_p.L545L|GART_ENST00000381815.4_Silent_p.L545L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	545	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAGTTACACTGAGGTCAAGTT	0.413																																																	0													111	101	104					21																	34892738		2203	4300	6503	SO:0001819	synonymous_variant	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1635C>T	21.37:g.34892738G>A			A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.L545	ENST00000381831.3	37	c.1635	CCDS13627.1	21																																																																																			GART	-	pfam_AIR_synth_N_dom,superfamily_PurM_N-like,tigrfam_PurM_cligase		0.413	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	G	NM_000819		34892738	-1	no_errors	ENST00000381815	ensembl	human	known	70_37	silent	SNP	0.001	A	A	34892738	G	A	34892738	2	1	185	1	0	0	0	0	0	0	0	1	6262	1277	45	1		1	GART	21	34892738	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2903831	34892738	13237157	1547	35822										
DSCR6	53820	genome.wustl.edu	37	chr21	38380494	38380494	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cttggatccagacacctggaGatgctgagctgaccagaact	11	11	0	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:38380494G>C	ENST00000329553.2	+	2	352	c.142G>C	c.(142-144)Gat>Cat	p.D48H	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	48					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											GACACCTGGAGATGCTGAGCT	0.577																																																	0													52	51	51					21																	38380494		2203	4300	6503	SO:0001583	missense	53820			AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.142G>C	21.37:g.38380494G>C	ENSP00000331734:p.Asp48His			Missense_Mutation	SNP	NULL	p.D48H	ENST00000329553.2	37	c.142	CCDS13648.1	21	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193046	0.58017	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.6	4.6	0.57074	.	0.596717	0.14832	N	0.295829	T	0.64516	0.2605	M	0.68317	2.08	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.56625	-0.7948	9	0.72032	D	0.01	-2.9933	13.6581	0.62349	0.0:0.0:1.0:0.0	.	48	P57055	DSCR6_HUMAN	H	48	.	ENSP00000331734:D48H	D	+	1	0	DSCR6	37302364	0.182000	0.23173	0.011000	0.14972	0.048000	0.14542	4.113000	0.57851	2.513000	0.84729	0.561000	0.74099	GAT	DSCR6	-	NULL		0.577	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR6	HGNC	protein_coding	OTTHUMT00000194703.1	G			38380494	1	no_errors	ENST00000329553	ensembl	human	known	70_37	missense	SNP	0.038	C	C	38380494	G	C	38380494	3	2	185	1	0	0	0	0	1	0	0	0	4783	942	33	1	148	1	DSCR6	21	38380494	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3487756	38380494	9749401	1548	35823										
TTC3	7267	genome.wustl.edu	37	chr21	38525250	38525250	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	accattgttatttatccttaGaaactgtagacaatgttcag	6	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:38525250G>C	ENST00000399017.2	+	27	5160		c.e27-1		TTC3_ENST00000479930.1_Splice_Site|TTC3_ENST00000540756.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000355666.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTATCCTTAGAAACTGTAGA	0.294																																					Ovarian(38;194 1649 35661)												0													28	30	29					21																	38525250		2202	4296	6498	SO:0001630	splice_region_variant	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2414-1G>C	21.37:g.38525250G>C			A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Splice_Site	SNP	-	e26-1	ENST00000399017.2	37	c.2414-1	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561110	0.45590	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749;ENST00000414818	.	.	.	5.51	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.20638	N	0.999875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0395	0.25013	0.0933:0.0:0.6487:0.2579	.	.	.	.	.	-1	.	.	.	+	.	.	TTC3	37447120	0.029000	0.19370	0.202000	0.23494	0.777000	0.43975	1.486000	0.35530	2.597000	0.87782	0.650000	0.86243	.	TTC3	-	-		0.294	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	G		Intron	38525250	1	no_errors	ENST00000354749	ensembl	human	known	70_37	splice_site	SNP	0.001	C	C	38525250	G	C	38525250	5	2	185	1	0	0	0	0	0	0	1	0	16728	956	33	1	2515	1	TTC3	21	38525250	Splice_Site	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	144756	38525250	9604645	1549	35824										
ETS2	2114	genome.wustl.edu	37	chr21	40184981	40184981	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtttgctgtttttccttctCtaaatgaagagcaaacactg	7	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:40184981C>G	ENST00000360214.3	+	4	587	c.127C>G	c.(127-129)Cta>Gta	p.L43V	ETS2_ENST00000360938.3_Missense_Mutation_p.L43V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	43					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTTTCCTTCTCTAAATGAAGA	0.403																																																	0													140	142	141					21																	40184981		2203	4300	6503	SO:0001583	missense	2114				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.127C>G	21.37:g.40184981C>G	ENSP00000353344:p.Leu43Val		A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.L43V	ENST00000360214.3	37	c.127	CCDS13659.1	21	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924730	0.34002	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.52526	2.44;2.44;0.66;1.15	6.16	3.39	0.38822	.	0.405932	0.25253	N	0.032012	T	0.40423	0.1116	L	0.50333	1.59	0.09310	N	1	P;P	0.52463	0.877;0.953	B;P	0.47603	0.251;0.551	T	0.19063	-1.0317	10	0.11182	T	0.66	.	6.3296	0.21262	0.0:0.5527:0.2546:0.1927	.	43;43	P15036;C9JAG2	ETS2_HUMAN;.	V	43	ENSP00000353344:L43V;ENSP00000354194:L43V;ENSP00000401273:L43V;ENSP00000411086:L43V	ENSP00000353344:L43V	L	+	1	2	ETS2	39106851	0.008000	0.16893	0.069000	0.20011	0.984000	0.73092	0.217000	0.17603	0.935000	0.37341	0.650000	0.86243	CTA	ETS2	-	pirsf_Transforming_factor_C-ets		0.403	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS2	HGNC	protein_coding	OTTHUMT00000207544.1	C			40184981	1	no_errors	ENST00000360214	ensembl	human	known	70_37	missense	SNP	0.026	G	G	40184981	C	G	40184981	3	3	185	1	0	0	0	0	1	0	0	0	5288	912	32	1	133	1	ETS2	21	40184981	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1659731	40184981	7944914	1550	35825										
HMGN1	3150	genome.wustl.edu	37	chr21	40720242	40720242	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgctgcctttttcggcttCgcttccacttttgcaggagg	11	12	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:40720242C>A	ENST00000380749.5	-	4	384	c.102G>T	c.(100-102)gcG>gcT	p.A34A	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380747.1_Silent_p.A50A|HMGN1_ENST00000361263.4_5'Flank|snoU13_ENST00000459446.1_RNA|HMGN1_ENST00000380748.1_Silent_p.A24A	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	34					chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TTTTCGGCTTCGCTTCCACTT	0.562																																																	0													90	90	90					21																	40720242		2203	4300	6503	SO:0001819	synonymous_variant	3150				CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"High-mobility group / Canonical"	4984	protein-coding gene	gene with protein product	"high-mobility group nucleosome binding 1", "nonhistone chromosomal protein HMG-14"	163920	"high-mobility group (nonhistone chromosomal) protein 14", "high-mobility group nucleosome binding domain 1"	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.102G>T	21.37:g.40720242C>A			Q3KQR8	Silent	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A34	ENST00000380749.5	37	c.102	CCDS33559.1	21																																																																																			HMGN1	-	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam		0.562	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN1	HGNC	protein_coding	OTTHUMT00000141645.2	C	NM_004965		40720242	-1	no_errors	ENST00000380749	ensembl	human	known	70_37	silent	SNP	0.759	A	A	40720242	C	A	40720242	2	1	185	1	0	0	0	0	0	0	0	1	7254	871	31	3		3	HMGN1	21	40720242	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	535261	40720242	7409653	1551	35826										
C2CD2	25966	genome.wustl.edu	37	chr21	43334762	43334762	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgttcctcaccagtagcttCagctcgtgagcccttggagg	11	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:43334762C>T	ENST00000380486.3	-	6	1030	c.789G>A	c.(787-789)ctG>ctA	p.L263L	C2CD2_ENST00000329623.7_Silent_p.L108L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	263						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCAGTAGCTTCAGCTCGTGAG	0.542																																																	0													112	94	100					21																	43334762		2203	4300	6503	SO:0001819	synonymous_variant	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.789G>A	21.37:g.43334762C>T			Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L263	ENST00000380486.3	37	c.789	CCDS42933.1	21																																																																																			C2CD2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB		0.542	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	C	NM_015500		43334762	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	silent	SNP	0.157	T	T	43334762	C	T	43334762	2	4	185	1	0	0	0	0	0	0	0	1	2157	813	29	1		1	C2CD2	21	43334762	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2614520	43334762	4795133	1552	35827										
RSPH1	89765	genome.wustl.edu	37	chr21	43912934	43912934	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctttttatttctaacatattCtccgatatatcgagcaccat	3	10	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:43912934C>G	ENST00000291536.3	-	3	375	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q	RSPH1_ENST00000398352.3_Missense_Mutation_p.E32Q	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	70					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CTAACATATTCTCCGATATAT	0.328																																					Esophageal Squamous(23;63 706 6286 10288 12913)												0													153	155	154					21																	43912934		2203	4300	6503	SO:0001583	missense	89765			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.208G>C	21.37:g.43912934C>G	ENSP00000291536:p.Glu70Gln		A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E70Q	ENST00000291536.3	37	c.208	CCDS13688.1	21	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493264	0.26774	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.59224	0.28;0.28	4.65	3.74	0.42951	.	0.248355	0.46145	N	0.000310	T	0.40670	0.1126	N	0.21324	0.655	0.30600	N	0.760661	B	0.24768	0.111	B	0.26094	0.066	T	0.37244	-0.9714	10	0.23302	T	0.38	.	10.2046	0.43105	0.0:0.7862:0.137:0.0769	.	70	Q8WYR4	RSPH1_HUMAN	Q	70;32	ENSP00000291536:E70Q;ENSP00000381395:E32Q	ENSP00000291536:E70Q	E	-	1	0	RSPH1	42786003	0.988000	0.35896	0.954000	0.39281	0.824000	0.46624	0.575000	0.23729	1.043000	0.40175	0.462000	0.41574	GAA	RSPH1	-	pfam_MORN,smart_MORN		0.328	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	HGNC	protein_coding	OTTHUMT00000195379.1	C			43912934	-1	no_errors	ENST00000291536	ensembl	human	known	70_37	missense	SNP	0.999	G	G	43912934	C	G	43912934	3	3	185	1	0	0	0	0	1	0	0	0	13732	922	32	1	749	1	RSPH1	21	43912934	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	578172	43912934	4216961	1553	35828										
RRP1B	23076	genome.wustl.edu	37	chr21	45094547	45094547	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggtcctgaggcagtcctttGaagtcttgaagcgaaatggc	13	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:45094547G>A	ENST00000340648.4	+	5	505	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	130					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCAGTCCTTTGAAGTCTTGAA	0.333																																																	0													97	91	93					21																	45094547		2203	4300	6503	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.388G>A	21.37:g.45094547G>A	ENSP00000339145:p.Glu130Lys		Q8TBZ4	Missense_Mutation	SNP	pfam_Nop52	p.E130K	ENST00000340648.4	37	c.388	CCDS33577.1	21	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052439	0.75960	.	.	ENSG00000160208	ENST00000340648	T	0.40225	1.04	5.83	4.94	0.65067	.	0.095004	0.64402	D	0.000001	T	0.48466	0.1501	N	0.20445	0.575	0.52501	D	0.999958	D	0.89917	1.0	D	0.87578	0.998	T	0.53711	-0.8400	10	0.87932	D	0	-5.7269	12.0754	0.53641	0.0807:0.0:0.9193:0.0	.	130	Q14684	RRP1B_HUMAN	K	130	ENSP00000339145:E130K	ENSP00000339145:E130K	E	+	1	0	RRP1B	43918975	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.892000	0.69790	1.466000	0.48025	0.650000	0.86243	GAA	RRP1B	-	pfam_Nop52		0.333	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1B	HGNC	protein_coding	OTTHUMT00000195651.1	G	NM_015056		45094547	1	no_errors	ENST00000340648	ensembl	human	known	70_37	missense	SNP	1.000	A	A	45094547	G	A	45094547	3	1	185	1	0	0	0	0	1	0	0	0	13718	1291	45	1	406	1	RRP1B	21	45094547	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1181613	45094547	3035348	1554	35829										
RRP1B	23076	genome.wustl.edu	37	chr21	45094945	45094945	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttttcttggatgtcctgatGaaggaggtcctgtgtcctga	13	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:45094945G>C	ENST00000340648.4	+	6	567	c.450G>C	c.(448-450)atG>atC	p.M150I		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	150					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		ATGTCCTGATGAAGGAGGTCC	0.468																																																	0													221	191	201					21																	45094945		2203	4300	6503	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.450G>C	21.37:g.45094945G>C	ENSP00000339145:p.Met150Ile		Q8TBZ4	Missense_Mutation	SNP	pfam_Nop52	p.M150I	ENST00000340648.4	37	c.450	CCDS33577.1	21	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934911	0.73442	.	.	ENSG00000160208	ENST00000340648	T	0.43688	0.94	5.68	3.88	0.44766	.	0.437092	0.29956	N	0.010774	T	0.46580	0.1400	M	0.65975	2.015	0.35408	D	0.792208	P	0.48162	0.906	P	0.47251	0.542	T	0.60845	-0.7182	10	0.87932	D	0	-7.0935	9.5886	0.39532	0.1638:0.0:0.8362:0.0	.	150	Q14684	RRP1B_HUMAN	I	150	ENSP00000339145:M150I	ENSP00000339145:M150I	M	+	3	0	RRP1B	43919373	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.980000	0.49321	0.764000	0.33197	0.655000	0.94253	ATG	RRP1B	-	pfam_Nop52		0.468	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1B	HGNC	protein_coding	OTTHUMT00000195651.1	G	NM_015056		45094945	1	no_errors	ENST00000340648	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45094945	G	C	45094945	3	2	185	1	0	0	0	0	1	0	0	0	13718	1290	45	1	472	1	RRP1B	21	45094945	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	398	45094945	3034950	1555	35830										
TRAPPC10	7109	genome.wustl.edu	37	chr21	45483604	45483604	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcttcctgcagaggccgtggGaggtggcccagcgcgcccta	15	14	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:45483604G>T	ENST00000291574.4	+	7	1151	c.976G>T	c.(976-978)Gag>Tag	p.E326*		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	326					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAGGCCGTGGGAGGTGGCCCA	0.572																																																	0													92	88	89					21																	45483604		2203	4300	6503	SO:0001587	stop_gained	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.976G>T	21.37:g.45483604G>T	ENSP00000291574:p.Glu326*		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Nonsense_Mutation	SNP	NULL	p.E326*	ENST00000291574.4	37	c.976	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.334400	0.98764	.	.	ENSG00000160218	ENST00000291574	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9067	0.97010	0.0:0.0:1.0:0.0	.	.	.	.	X	326	.	ENSP00000291574:E326X	E	+	1	0	TRAPPC10	44308032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.277000	0.95755	2.703000	0.92315	0.655000	0.94253	GAG	TRAPPC10	-	NULL		0.572	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	G	NM_003274		45483604	1	no_errors	ENST00000291574	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	45483604	G	T	45483604	4	4	185	1	0	0	0	0	0	1	0	0	16488	1175	41	3	1002	3	TRAPPC10	21	45483604	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	388659	45483604	2646291	1556	35831										
PWP2	5822	genome.wustl.edu	37	chr21	45538667	45538667	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcagatcagagcatcgcctCagtggccatcaatagctcgg	10	12	4	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr21:45538667C>T	ENST00000291576.7	+	9	1131	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	335					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		AGCATCGCCTCAGTGGCCATC	0.612																																																	0													127	101	109					21																	45538667		2203	4300	6503	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1004C>T	21.37:g.45538667C>T	ENSP00000291576:p.Ser335Leu		B2RAG8|Q96A77	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S335L	ENST00000291576.7	37	c.1004	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645368	0.47258	.	.	ENSG00000241945	ENST00000291576	T	0.51574	0.7	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (2);WD40-repeat-containing domain (1);	0.061349	0.64402	D	0.000002	T	0.52629	0.1746	M	0.82823	2.61	0.40532	D	0.980943	P	0.40431	0.717	B	0.35813	0.211	T	0.65166	-0.6234	10	0.62326	D	0.03	-22.7786	16.9482	0.86236	0.0:1.0:0.0:0.0	.	335	Q15269	PWP2_HUMAN	L	335	ENSP00000291576:S335L	ENSP00000291576:S335L	S	+	2	0	PWP2	44363095	1.000000	0.71417	0.047000	0.18901	0.814000	0.46013	6.708000	0.74660	2.501000	0.84356	0.555000	0.69702	TCA	PWP2	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.612	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	C	NM_005049		45538667	1	no_errors	ENST00000291576	ensembl	human	known	70_37	missense	SNP	0.711	T	T	45538667	C	T	45538667	3	4	185	1	0	0	0	0	1	0	0	0	12874	838	29	1	1038	1	PWP2	21	45538667	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	55063	45538667	2591228	1557	35832										
CECR1	51816	genome.wustl.edu	37	chr22	17672622	17672622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aataaactcagggtgagtttCcacaaacttctgagctactt	7	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:17672622C>T	ENST00000399839.1	-	5	1102	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	CECR1_ENST00000449907.2_Missense_Mutation_p.E236K|CECR1_ENST00000262607.3_Missense_Mutation_p.E278K|CECR1_ENST00000330232.4_Missense_Mutation_p.E37K|CECR1_ENST00000399837.2_Missense_Mutation_p.E278K|CECR1_ENST00000480276.1_5'UTR	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	278					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGTGAGTTTCCACAAACTTC	0.478																																																	0													172	169	170					22																	17672622		2203	4300	6503	SO:0001583	missense	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.832G>A	22.37:g.17672622C>T	ENSP00000382733:p.Glu278Lys		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.E278K	ENST00000399839.1	37	c.832	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	C	5.114	0.206720	0.09704	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56	3.58	0.0741	0.14393	Adenosine/AMP deaminase (1);	0.712485	0.13792	N	0.362422	T	0.78767	0.4335	N	0.02275	-0.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.69304	-0.5180	10	0.05833	T	0.94	.	4.4193	0.11472	0.0:0.3078:0.1661:0.5261	.	278;37	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	K	278;37;278;236;278	ENSP00000382733:E278K;ENSP00000332871:E37K;ENSP00000262607:E278K;ENSP00000406443:E236K;ENSP00000382731:E278K	ENSP00000262607:E278K	E	-	1	0	CECR1	16052622	0.000000	0.05858	0.000000	0.03702	0.807000	0.45602	-0.029000	0.12329	-0.001000	0.14495	0.313000	0.20887	GAA	CECR1	-	pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like		0.478	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	C			17672622	-1	no_errors	ENST00000262607	ensembl	human	known	70_37	missense	SNP	0.000	T	T	17672622	C	T	17672622	3	4	185	1	0	0	0	0	1	0	0	0	3210	864	30	1	727	1	CECR1	22	17672622	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09		17672622	33631944	1558	35833										
CECR2	27443	genome.wustl.edu	37	chr22	18027888	18027888	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caccaggtgttggtacttcaGagggggtctacctcacacaa	11	11	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:18027888G>C	ENST00000400585.2	+	17	2857	c.2419G>C	c.(2419-2421)Gag>Cag	p.E807Q	CECR2_ENST00000400573.5_Missense_Mutation_p.E949Q|CECR2_ENST00000262608.8_Missense_Mutation_p.E950Q			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	991					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGGTACTTCAGAGGGGGTCTA	0.502																																																	0													34	36	35					22																	18027888		1947	4147	6094	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2419G>C	22.37:g.18027888G>C	ENSP00000383428:p.Glu807Gln		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E949Q	ENST00000400585.2	37	c.2845		22	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022844	0.35701	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.28255	1.74;1.73;1.62	4.13	4.13	0.48395	.	0.141960	0.31648	N	0.007290	T	0.45836	0.1362	M	0.62723	1.935	0.34864	D	0.742883	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.55713	0.782;0.782;0.782	T	0.62863	-0.6764	10	0.66056	D	0.02	-24.3209	15.0899	0.72185	0.0:0.0:1.0:0.0	.	991;807;949	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Q	807;949;950	ENSP00000383428:E807Q;ENSP00000383417:E949Q;ENSP00000262608:E950Q	ENSP00000262608:E950Q	E	+	1	0	CECR2	16407888	1.000000	0.71417	0.975000	0.42487	0.026000	0.11368	5.572000	0.67411	2.282000	0.76494	0.462000	0.41574	GAG	CECR2	-	NULL		0.502	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		18027888	1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	0.991	C	C	18027888	G	C	18027888	3	2	185	1	0	0	0	0	1	0	0	0	3211	943	33	1	2909	1	CECR2	22	18027888	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	355266	18027888	33276678	1559	35834										
TXNRD2	10587	genome.wustl.edu	37	chr22	19906448	19906448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcatcttggatcaggcctccCagcagtgccgcctggtgcat	12	14	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:19906448C>T	ENST00000400521.1	-	4	315	c.309G>A	c.(307-309)ctG>ctA	p.L103L	TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000334363.9_Silent_p.L103L|TXNRD2_ENST00000400518.1_Silent_p.L73L|TXNRD2_ENST00000542719.1_Silent_p.L73L|TXNRD2_ENST00000535882.1_Silent_p.L102L|TXNRD2_ENST00000400519.1_Silent_p.L102L	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	103					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCAGGCCTCCCAGCAGTGCCG	0.652																																																	0													39	43	42					22																	19906448		2022	4164	6186	SO:0001819	synonymous_variant	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.309G>A	22.37:g.19906448C>T			O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.L102	ENST00000400521.1	37	c.306	CCDS42981.1	22																																																																																			TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase		0.652	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	C	NM_006440		19906448	-1	no_errors	ENST00000535882	ensembl	human	known	70_37	silent	SNP	0.996	T	T	19906448	C	T	19906448	2	4	185	1	0	0	0	0	0	0	0	1	16839	581	21	4		4	TXNRD2	22	19906448	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1878560	19906448	31398118	1560	35835										
ARVCF	421	genome.wustl.edu	37	chr22	19967387	19967387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcgcggccataggagaggttGcgcagtgccccacaggcccg	15	14	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:19967387G>A	ENST00000263207.3	-	6	1566	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	ARVCF_ENST00000406259.1_Silent_p.R425R|ARVCF_ENST00000406522.1_Silent_p.R362R|ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000344269.3_Silent_p.R362R|ARVCF_ENST00000401994.1_Silent_p.R362R	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	425					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGGAGAGGTTGCGCAGTGCCC	0.711																																																	0													28	26	27					22																	19967387		2192	4293	6485	SO:0001819	synonymous_variant	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1275C>T	22.37:g.19967387G>A			B7WNV2	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R425	ENST00000263207.3	37	c.1275	CCDS13771.1	22																																																																																			ARVCF	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.711	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	G	NM_001670		19967387	-1	no_errors	ENST00000263207	ensembl	human	known	70_37	silent	SNP	0.977	A	A	19967387	G	A	19967387	2	1	185	1	0	0	0	0	0	0	0	1	1004	1306	46	4		4	ARVCF	22	19967387	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	60939	19967387	31337179	1561	35836										
TRMT2A	27037	genome.wustl.edu	37	chr22	20104027	20104027	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtagccgccccagcgccctCtttctccacctcctccaggg	8	20	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:20104027C>G	ENST00000252136.7	-	2	521	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	TRMT2A_ENST00000404751.3_Missense_Mutation_p.E45Q|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000331821.3_5'Flank|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E45Q|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E45Q	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	45					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CCAGCGCCCTCTTTCTCCACC	0.647																																																	0													20	26	24					22																	20104027		2125	4150	6275	SO:0001583	missense	27037			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"HpaII tiny fragments locus 9C"	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.133G>C	22.37:g.20104027C>G	ENSP00000252136:p.Glu45Gln		D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.E45Q	ENST00000252136.7	37	c.133	CCDS13774.1	22	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270351	0.40194	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	T;T;T	0.50001	0.77;0.77;0.76	5.2	4.18	0.49190	.	0.871390	0.10158	N	0.708648	T	0.32526	0.0832	L	0.39898	1.24	0.25081	N	0.990929	P;B;B	0.44578	0.838;0.165;0.165	B;B;B	0.35413	0.202;0.094;0.059	T	0.05419	-1.0886	10	0.13853	T	0.58	-4.3119	8.0673	0.30667	0.1561:0.7614:0.0:0.0825	.	45;45;45	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	Q	45;45;45;45;33	ENSP00000252136:E45Q;ENSP00000385807:E45Q;ENSP00000395738:E45Q	ENSP00000252136:E45Q	E	-	1	0	TRMT2A	18484027	0.001000	0.12720	0.001000	0.08648	0.132000	0.20833	0.960000	0.29253	1.207000	0.43291	0.491000	0.48974	GAG	TRMT2A	-	NULL		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3	C	NM_022727		20104027	-1	no_errors	ENST00000252136	ensembl	human	known	70_37	missense	SNP	0.002	G	G	20104027	C	G	20104027	3	3	185	1	0	0	0	0	1	0	0	0	16596	922	32	1	1788	1	TRMT2A	22	20104027	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	136640	20104027	31200539	1562	35837										
RIMBP3	85376	genome.wustl.edu	37	chr22	20457737	20457737	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggagtctctggccatcggtGacacatgaagaagtcctcgg	13	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:20457737G>A	ENST00000426804.1	-	1	4049	c.3565C>T	c.(3565-3567)Cac>Tac	p.H1189Y	RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1189										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGCCATCGGTGACACATGAAG	0.582																																																	0													1	1	1					22																	20457737		173	479	652	SO:0001583	missense	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3565C>T	22.37:g.20457737G>A	ENSP00000391564:p.His1189Tyr		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.H1189Y	ENST00000426804.1	37	c.3565	CCDS46665.1	22	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.792324	0.00623	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17213	2.29	3.42	-0.0478	0.13841	Fibronectin, type III (1);	1.496640	0.04056	N	0.305593	T	0.07683	0.0193	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23013	-1.0200	10	0.02654	T	1	0.3685	2.3249	0.04220	0.2898:0.0:0.4673:0.243	.	1095	Q9UFD9	RIM3A_HUMAN	Y	1095;1189	ENSP00000391564:H1189Y	ENSP00000347318:H1095Y	H	-	1	0	RIMBP3	18837737	0.000000	0.05858	0.001000	0.08648	0.231000	0.25187	0.046000	0.14035	0.221000	0.20879	0.184000	0.17185	CAC	RIMBP3	-	superfamily_Fibronectin_type3		0.582	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	G	NM_015672		20457737	-1	no_errors	ENST00000426804	ensembl	human	known	70_37	missense	SNP	0.000	A	A	20457737	G	A	20457737	3	1	185	1	0	0	0	0	1	0	0	0	13394	1290	45	1	1358	1	RIMBP3	22	20457737	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	353710	20457737	30846829	1563	35838										
SCARF2	91179	genome.wustl.edu	37	chr22	20784796	20784796	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgccgcagtcggcgcacacGaaggcgcagtcctcgccgta	13	16	0	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:20784796G>A	ENST00000266214.5	-	6	1226	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	SCARF2_ENST00000405555.3_Silent_p.F374F	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	374	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGCGCACACGAAGGCGCAGT	0.667																																																	0													18	15	16					22																	20784796		2198	4291	6489	SO:0001819	synonymous_variant	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1122C>T	22.37:g.20784796G>A			E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.F374	ENST00000266214.5	37	c.1122	CCDS13779.1	22																																																																																			SCARF2	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom		0.667	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	G			20784796	-1	no_errors	ENST00000405555	ensembl	human	known	70_37	silent	SNP	1.000	A	A	20784796	G	A	20784796	2	1	185	1	0	0	0	0	0	0	0	1	13914	1049	37	1		1	SCARF2	22	20784796	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	327059	20784796	30519770	1564	35839										
BCR	613	genome.wustl.edu	37	chr22	23524281	23524281	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cagaactcgcaacagtccttCgacagcagcagtccccccac	7	18	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:23524281C>T	ENST00000305877.8	+	1	1885	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	BCR_ENST00000359540.3_Silent_p.F378F|BCR_ENST00000398512.5_Silent_p.F378F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	378	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	AACAGTCCTTCGACAGCAGCA	0.672			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													47	37	40					22																	23524281		2203	4300	6503	SO:0001819	synonymous_variant	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1134C>T	22.37:g.23524281C>T			P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.F378	ENST00000305877.8	37	c.1134	CCDS13806.1	22																																																																																			BCR	-	NULL		0.672	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	C	NM_004327		23524281	1	no_errors	ENST00000305877	ensembl	human	known	70_37	silent	SNP	0.111	T	T	23524281	C	T	23524281	2	4	185	1	0	0	0	0	0	0	0	1	1389	883	31	1		1	BCR	22	23524281	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2739485	23524281	27780285	1565	35840										
PIWIL3	440822	genome.wustl.edu	37	chr22	25158460	25158460	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcgcgagtccttgccctacCaggcattgtggtcctgaagg	14	12	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:25158460C>G	ENST00000332271.5	-	2	423	c.7G>C	c.(7-9)Ggt>Cgt	p.G3R	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	3					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.G3S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTGCCCTACCAGGCATTGTG	0.552																																																	1	Substitution - Missense(1)	breast(1)											69	64	66					22																	25158460		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.7G>C	22.37:g.25158460C>G	ENSP00000330031:p.Gly3Arg			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.G3R	ENST00000332271.5	37	c.7	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304607	0.40795	.	.	ENSG00000184571	ENST00000332271	T	0.05580	3.42	2.42	2.42	0.29668	.	0.000000	0.85682	U	0.000000	T	0.18676	0.0448	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.00573	-1.1664	10	0.87932	D	0	-1.9222	8.4676	0.32966	0.0:1.0:0.0:0.0	.	3;3	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	R	3	ENSP00000330031:G3R	ENSP00000330031:G3R	G	-	1	0	PIWIL3	23488460	0.236000	0.23804	0.745000	0.31077	0.162000	0.22319	2.210000	0.42816	1.689000	0.51079	0.563000	0.77884	GGT	PIWIL3	-	NULL		0.552	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	C	NM_001008496		25158460	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	0.736	G	G	25158460	C	G	25158460	3	3	185	1	0	0	0	0	1	0	0	0	11983	594	21	4	2721	4	PIWIL3	22	25158460	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1634179	25158460	26146106	1566	35841										
SEZ6L	23544	genome.wustl.edu	37	chr22	26747131	26747131	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gcaaccccggttttgtgcttGaagggagttctcttctgacc	11	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:26747131G>C	ENST00000248933.6	+	12	2616	c.2521G>C	c.(2521-2523)Gaa>Caa	p.E841Q	SEZ6L_ENST00000529632.2_Missense_Mutation_p.E841Q|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E841Q|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E614Q|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E841Q|SEZ6L_ENST00000411842.2_Missense_Mutation_p.E38Q|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E614Q			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	841	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTTTGTGCTTGAAGGGAGTTC	0.557																																																	0													134	114	121					22																	26747131		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2521G>C	22.37:g.26747131G>C	ENSP00000248933:p.Glu841Gln		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E841Q	ENST00000248933.6	37	c.2521	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	g	14.44	2.534735	0.45073	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000038	T	0.57125	0.2032	N	0.13272	0.32	0.42735	D	0.993722	P;B;B;B;B;B	0.41784	0.762;0.059;0.014;0.081;0.059;0.059	P;B;B;B;B;B	0.50708	0.648;0.074;0.062;0.044;0.06;0.074	T	0.58896	-0.7555	10	0.33940	T	0.23	.	16.5015	0.84257	0.0:0.0:1.0:0.0	.	841;841;614;841;841;841	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	Q	841;841;841;841;614;614;38	ENSP00000384772:E841Q;ENSP00000437037:E841Q;ENSP00000248933:E841Q;ENSP00000342661:E841Q;ENSP00000384838:E614Q;ENSP00000384733:E614Q;ENSP00000397274:E38Q	ENSP00000248933:E841Q	E	+	1	0	SEZ6L	25077131	1.000000	0.71417	0.844000	0.33320	0.845000	0.48019	6.413000	0.73308	2.381000	0.81170	0.539000	0.68188	GAA	SEZ6L	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.557	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G			26747131	1	no_errors	ENST00000248933	ensembl	human	known	70_37	missense	SNP	0.997	C	C	26747131	G	C	26747131	3	2	185	1	0	0	0	0	1	0	0	0	14173	1291	45	1	2567	1	SEZ6L	22	26747131	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1588671	26747131	24557435	1567	35842										
TPST2	8459	genome.wustl.edu	37	chr22	26937206	26937206	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	catggcggcgtccagcacctCatccgtcacccccgcctcat	8	20	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:26937206C>T	ENST00000338754.4	-	3	661	c.391G>A	c.(391-393)Gag>Aag	p.E131K	TPST2_ENST00000403880.1_Missense_Mutation_p.E131K|TPST2_ENST00000398110.2_Missense_Mutation_p.E131K	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	131					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TCCAGCACCTCATCCGTCACC	0.657																																																	0													38	30	33					22																	26937206		2202	4300	6502	SO:0001583	missense	8459			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.391G>A	22.37:g.26937206C>T	ENSP00000339813:p.Glu131Lys		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E131K	ENST00000338754.4	37	c.391	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721262	0.30503	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495	.	.	.	5.33	4.25	0.50352	Sulfotransferase domain (1);	0.237208	0.36665	N	0.002478	T	0.54046	0.1834	L	0.48362	1.52	0.58432	D	0.999995	B	0.12630	0.006	B	0.16289	0.015	T	0.53236	-0.8467	9	0.41790	T	0.15	-39.2613	12.5371	0.56147	0.0:0.6699:0.3301:0.0	.	131	O60704	TPST2_HUMAN	K	131;131;131;64;131	.	ENSP00000339813:E131K	E	-	1	0	TPST2	25267206	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	1.764000	0.38471	2.501000	0.84356	0.609000	0.83330	GAG	TPST2	-	pfam_Sulfotransferase_dom		0.657	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	C	NM_003595		26937206	-1	no_errors	ENST00000338754	ensembl	human	known	70_37	missense	SNP	1.000	T	T	26937206	C	T	26937206	3	4	185	1	0	0	0	0	1	0	0	0	16459	835	29	1	758	1	TPST2	22	26937206	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	190075	26937206	24367360	1568	35843										
AP1B1	162	genome.wustl.edu	37	chr22	29724828	29724828	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tctcagttcttgaggatggtCtcgtaggcctggtacacgtg	13	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:29724828C>T	ENST00000405198.1	-	22	2863	c.2832G>A	c.(2830-2832)gaG>gaA	p.E944E	AP1B1_ENST00000317368.7_Silent_p.E914E|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000402502.1_Silent_p.E934E|AP1B1_ENST00000357586.2_Silent_p.E944E|AP1B1_ENST00000415447.1_Silent_p.E934E|AP1B1_ENST00000432560.2_Silent_p.E934E|AP1B1_ENST00000356015.2_Silent_p.E937E			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	944					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGAGGATGGTCTCGTAGGCCT	0.667																																																	0													67	54	58					22																	29724828		2203	4299	6502	SO:0001819	synonymous_variant	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2832G>A	22.37:g.29724828C>T			C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.E944	ENST00000405198.1	37	c.2832	CCDS13855.1	22																																																																																			AP1B1	-	pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C		0.667	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	C	NM_001127		29724828	-1	no_errors	ENST00000357586	ensembl	human	known	70_37	silent	SNP	1.000	T	T	29724828	C	T	29724828	2	4	185	1	0	0	0	0	0	0	0	1	731	912	32	1		1	AP1B1	22	29724828	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2787622	29724828	21579738	1569	35844										
SF3A1	10291	genome.wustl.edu	37	chr22	30736706	30736706	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgggatcataatccttgcgGacaatgacttggtctggagt	12	7	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:30736706G>C	ENST00000215793.8	-	8	1321	c.1167C>G	c.(1165-1167)gtC>gtG	p.V389V	SF3A1_ENST00000439242.1_Silent_p.V324V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	389					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AATCCTTGCGGACAATGACTT	0.577																																																	0													109	101	104					22																	30736706		2203	4300	6503	SO:0001819	synonymous_variant	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1167C>G	22.37:g.30736706G>C			E9PAW1	Silent	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.V389	ENST00000215793.8	37	c.1167	CCDS13875.1	22																																																																																			SF3A1	-	pfam_PRP21-like		0.577	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2	G	NM_005877		30736706	-1	no_errors	ENST00000215793	ensembl	human	known	70_37	silent	SNP	0.957	C	C	30736706	G	C	30736706	2	2	185	1	0	0	0	0	0	0	0	1	14176	1161	41	1		1	SF3A1	22	30736706	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1011878	30736706	20567860	1570	35845										
PES1	23481	genome.wustl.edu	37	chr22	30975182	30975182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggcctcttcctccttttctGaaccagcctctgcatcttcc	6	17	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:30975182G>A	ENST00000405677.1	-	15	1989	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	PES1_ENST00000402284.3_Missense_Mutation_p.S471L|PES1_ENST00000335214.6_Missense_Mutation_p.S483L|PES1_ENST00000402281.1_Missense_Mutation_p.S349L|PES1_ENST00000354694.7_Missense_Mutation_p.S488L	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ctccttttctgaaccagcctc	0.577																																																	0													46	47	47					22																	30975182		2203	4300	6503	SO:0001583	missense	23481			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1046C>T	22.37:g.30975182G>A	ENSP00000385654:p.Ser349Leu			Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S488L	ENST00000405677.1	37	c.1463		22	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524653	0.27299	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.23950	1.88;1.89;1.89;1.88;1.88	4.15	2.01	0.26516	.	0.959980	0.08635	N	0.916475	T	0.21103	0.0508	L	0.46157	1.445	0.22127	N	0.999341	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.29640	-1.0005	10	0.33141	T	0.24	0.6655	5.1183	0.14847	0.1794:0.0:0.657:0.1635	.	488;471;483;488	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	L	488;349;349;471;483	ENSP00000346725:S488L;ENSP00000384366:S349L;ENSP00000385654:S349L;ENSP00000384252:S471L;ENSP00000334612:S483L	ENSP00000334612:S483L	S	-	2	0	PES1	29305182	0.671000	0.27521	0.005000	0.12908	0.784000	0.44337	2.113000	0.41902	0.329000	0.23460	0.563000	0.77884	TCA	PES1	-	NULL		0.577	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2	G	NM_014303		30975182	-1	no_errors	ENST00000354694	ensembl	human	known	70_37	missense	SNP	0.157	A	A	30975182	G	A	30975182	3	1	185	1	0	0	0	0	1	0	0	0	11757	1294	45	1	315	1	PES1	22	30975182	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	238476	30975182	20329384	1571	35846										
PATZ1	23598	genome.wustl.edu	37	chr22	31741129	31741129	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gttggactgtttgatgacttCctggcagatctcgataaccg	11	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:31741129C>A	ENST00000266269.5	-	1	1089	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Nonsense_Mutation_p.E154*|PATZ1_ENST00000215919.3_Nonsense_Mutation_p.E154*|PATZ1_ENST00000351933.4_Nonsense_Mutation_p.E154*	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	154					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TTGATGACTTCCTGGCAGATC	0.582																																																	0													147	155	152					22																	31741129		2203	4300	6503	SO:0001587	stop_gained	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.460G>T	22.37:g.31741129C>A	ENSP00000266269:p.Glu154*		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E154*	ENST00000266269.5	37	c.460	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	C	41	8.976462	0.99023	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	.	.	.	4.1	4.1	0.47936	.	0.057198	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-10.7209	15.6982	0.77517	0.0:1.0:0.0:0.0	.	.	.	.	X	154	.	ENSP00000215919:E154X	E	-	1	0	PATZ1	30071129	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.526000	0.60566	2.007000	0.58848	0.561000	0.74099	GAA	PATZ1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	C	NM_032052		31741129	-1	no_errors	ENST00000266269	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	31741129	C	A	31741129	4	1	185	1	0	0	0	0	0	1	0	0	11500	864	30	3	1906	3	PATZ1	22	31741129	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	765947	31741129	19563437	1572	35847										
BPIL2	254240	genome.wustl.edu	37	chr22	32843292	32843292	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctccaggcacaaaagccaatGaggtatttggaaatgaaaag	10	7	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:32843292G>A	ENST00000397452.1	-	4	391	c.281C>T	c.(280-282)tCa>tTa	p.S94L	BPIFC_ENST00000300399.3_Missense_Mutation_p.S94L|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	94						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										AAAAGCCAATGAGGTATTTGG	0.448																																																	0													110	99	103					22																	32843292		2203	4300	6503	SO:0001583	missense	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.281C>T	22.37:g.32843292G>A	ENSP00000380594:p.Ser94Leu		A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.S94L	ENST00000397452.1	37	c.281	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697240	0.68386	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.06849	3.25;3.25	5.87	5.87	0.94306	.	0.222293	0.41097	D	0.000949	T	0.28962	0.0719	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00042	-1.2229	10	0.51188	T	0.08	-16.2029	16.0731	0.80948	0.0:0.0:1.0:0.0	.	94	Q8NFQ6	BPIFC_HUMAN	L	94	ENSP00000380594:S94L;ENSP00000300399:S94L	ENSP00000300399:S94L	S	-	2	0	BPIFC	31173292	0.993000	0.37304	0.676000	0.29932	0.400000	0.30750	4.697000	0.61782	2.941000	0.99782	0.655000	0.94253	TCA	BPIFC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.448	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	G	NM_174932		32843292	-1	no_errors	ENST00000300399	ensembl	human	known	70_37	missense	SNP	0.958	A	A	32843292	G	A	32843292	3	1	185	1	0	0	0	0	1	0	0	0	1495	1294	45	1	1294	1	BPIL2	22	32843292	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1102163	32843292	18461274	1573	35848										
MYH9	4627	genome.wustl.edu	37	chr22	36691727	36691727	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccagctcccggatcttcttGagggccatgttcttctgggc	11	13	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:36691727G>C	ENST00000216181.5	-	26	3539	c.3309C>G	c.(3307-3309)ctC>ctG	p.L1103L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1103					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGATCTTCTTGAGGGCCATGT	0.522			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													36	36	36					22																	36691727		2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3309C>G	22.37:g.36691727G>C			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1103	ENST00000216181.5	37	c.3309	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail		0.522	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36691727	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	silent	SNP	0.648	C	C	36691727	G	C	36691727	2	2	185	1	0	0	0	0	0	0	0	1	10065	1277	45	1		1	MYH9	22	36691727	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3848435	36691727	14612839	1574	35849										
EIF3D	8664	genome.wustl.edu	37	chr22	36915544	36915544	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	actcctcgtggtgatgcggtCaaaggctttgtcgtagtatt	12	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:36915544C>T	ENST00000216190.8	-	8	989	c.619G>A	c.(619-621)Gac>Aac	p.D207N	EIF3D_ENST00000405442.1_Missense_Mutation_p.D207N|EIF3D_ENST00000541106.1_Missense_Mutation_p.D158N	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTGATGCGGTCAAAGGCTTTG	0.527																																																	0													225	186	199					22																	36915544		2203	4300	6503	SO:0001583	missense	8664			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.619G>A	22.37:g.36915544C>T	ENSP00000216190:p.Asp207Asn			Missense_Mutation	SNP	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	p.D207N	ENST00000216190.8	37	c.619	CCDS13930.1	22	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947424	0.92593	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547	.	.	.	5.91	5.91	0.95273	.	0.089349	0.85682	D	0.000000	T	0.76744	0.4030	M	0.76170	2.325	0.80722	D	1	P;P	0.51240	0.943;0.903	P;P	0.55161	0.717;0.77	T	0.77686	-0.2495	9	0.66056	D	0.02	-11.7218	20.2946	0.98546	0.0:1.0:0.0:0.0	.	158;207	B4DVY1;O15371	.;EIF3D_HUMAN	N	207;192;158;207;207	.	ENSP00000216190:D207N	D	-	1	0	EIF3D	35245490	1.000000	0.71417	0.983000	0.44433	0.401000	0.30781	7.419000	0.80179	2.804000	0.96469	0.462000	0.41574	GAC	EIF3D	-	pfam_EIF-3_zeta,pirsf_EIF-3_zeta		0.527	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	C			36915544	-1	no_errors	ENST00000216190	ensembl	human	known	70_37	missense	SNP	0.289	T	T	36915544	C	T	36915544	3	4	185	1	0	0	0	0	1	0	0	0	5026	826	29	1	1059	1	EIF3D	22	36915544	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	223817	36915544	14389022	1575	35850										
NCF4	4689	genome.wustl.edu	37	chr22	37260991	37260991	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcgaggtgaagacaaaaggaGgatccaagtacctcatctac	10	9	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:37260991G>C	ENST00000248899.6	+	3	332	c.148G>C	c.(148-150)Gga>Cga	p.G50R	CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.G50R|CTA-833B7.2_ENST00000330602.2_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	50	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GACAAAAGGAGGATCCAAGTA	0.577																																																	0													91	74	79					22																	37260991		2203	4300	6503	SO:0001583	missense	4689			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.148G>C	22.37:g.37260991G>C	ENSP00000248899:p.Gly50Arg		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox	p.G50R	ENST00000248899.6	37	c.148	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	G	18.60	3.660033	0.67586	.	.	ENSG00000100365	ENST00000248899;ENST00000397147	T;T	0.43688	0.94;0.94	5.67	5.67	0.87782	Phox homologous domain (5);	0.106571	0.64402	D	0.000005	T	0.70002	0.3174	M	0.91510	3.215	0.49915	D	0.999831	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.75955	-0.3135	10	0.72032	D	0.01	-19.5029	11.9411	0.52901	0.0802:0.0:0.9198:0.0	.	50;50	A8K4F9;Q15080	.;NCF4_HUMAN	R	50	ENSP00000248899:G50R;ENSP00000380334:G50R	ENSP00000248899:G50R	G	+	1	0	NCF4	35590937	1.000000	0.71417	0.971000	0.41717	0.552000	0.35366	4.534000	0.60622	2.666000	0.90696	0.561000	0.74099	GGA	NCF4	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.577	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	G	NM_000631		37260991	1	no_errors	ENST00000397147	ensembl	human	known	70_37	missense	SNP	0.996	C	C	37260991	G	C	37260991	3	2	185	1	0	0	0	0	1	0	0	0	10242	1001	35	4	158	4	NCF4	22	37260991	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	345447	37260991	14043575	1576	35851										
CARD10	29775	genome.wustl.edu	37	chr22	37898696	37898696	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtcagaggatgaggacgaaGagaggccaggggaccagggc	19	7	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:37898696G>A	ENST00000403299.1	-	12	1916	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	CARD10_ENST00000406271.3_Missense_Mutation_p.S281F|CARD10_ENST00000251973.5_Missense_Mutation_p.S567F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	567	Poly-Ser.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TGAGGACGAAGAGAGGCCAGG	0.592																																																	0													67	52	57					22																	37898696		2203	4300	6503	SO:0001583	missense	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1700C>T	22.37:g.37898696G>A	ENSP00000384570:p.Ser567Phe		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.S567F	ENST00000403299.1	37	c.1700	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499956	0.44455	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.91	4.91	0.64330	.	1.181860	0.05950	N	0.638676	T	0.60625	0.2283	L	0.44542	1.39	0.37418	D	0.913516	B;D	0.61080	0.006;0.989	B;P	0.58172	0.005;0.834	T	0.52518	-0.8565	10	0.59425	D	0.04	-11.7261	13.9912	0.64367	0.0:0.0:1.0:0.0	.	567;281	Q9BWT7;Q8NC81	CAR10_HUMAN;.	F	567;281;567;208;39	ENSP00000384570:S567F;ENSP00000385799:S281F;ENSP00000251973:S567F;ENSP00000416239:S208F;ENSP00000393411:S39F	ENSP00000251973:S567F	S	-	2	0	CARD10	36228642	1.000000	0.71417	0.982000	0.44146	0.640000	0.38277	4.390000	0.59646	2.447000	0.82792	0.655000	0.94253	TCT	CARD10	-	NULL		0.592	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	G	NM_014550		37898696	-1	no_errors	ENST00000251973	ensembl	human	known	70_37	missense	SNP	0.996	A	A	37898696	G	A	37898696	3	1	185	1	0	0	0	0	1	0	0	0	2649	942	33	1	1438	1	CARD10	22	37898696	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	637705	37898696	13405870	1577	35852										
POLR2F	5435	genome.wustl.edu	37	chr22	38355371	38355371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aggaaggccaggagaatgtcGagatcctcccctctggggag	15	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38355371G>A	ENST00000442738.2	+	3	234	c.109G>A	c.(109-111)Gag>Aag	p.E37K	POLR2F_ENST00000488684.1_Silent_p.S56S|POLR2F_ENST00000460648.1_Intron|POLR2F_ENST00000606538.1_Missense_Mutation_p.E37K|POLR2F_ENST00000470701.1_Missense_Mutation_p.E32K|POLR2F_ENST00000405557.1_Missense_Mutation_p.E37K|POLR2F_ENST00000407936.1_Missense_Mutation_p.E37K	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	37					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					GGAGAATGTCGAGATCCTCCC	0.552																																																	0													207	198	201					22																	38355371		2203	4300	6503	SO:0001583	missense	5435				CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"RNA polymerase subunits"	9193	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 14.4 kda polypeptide"	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.109G>A	22.37:g.38355371G>A	ENSP00000403852:p.Glu37Lys		P41584|Q6IAY3	Missense_Mutation	SNP	pfam_RNA_poly_omega/K/RPABC2,superfamily_RNA_poly_omega/K/RPABC2	p.E37K	ENST00000442738.2	37	c.109	CCDS13963.1	22	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004296	0.19199	.	.	ENSG00000100142	ENST00000442738;ENST00000407936;ENST00000405557	.	.	.	4.98	3.96	0.45880	RNA polymerase subunit, RPB6/omega (1);	0.105212	0.64402	D	0.000004	T	0.50735	0.1633	L	0.43923	1.385	0.58432	D	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	9	0.11794	T	0.64	.	13.3931	0.60834	0.0764:0.0:0.9236:0.0	.	37	P61218	RPAB2_HUMAN	K	37	.	ENSP00000384112:E37K	E	+	1	0	POLR2F	36685317	1.000000	0.71417	0.810000	0.32431	0.050000	0.14768	5.588000	0.67517	1.224000	0.43551	0.655000	0.94253	GAG	POLR2F	-	superfamily_RNA_poly_omega/K/RPABC2		0.552	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2F	HGNC	protein_coding	OTTHUMT00000321570.1	G	NM_021974		38355371	1	no_errors	ENST00000442738	ensembl	human	known	70_37	missense	SNP	0.994	A	A	38355371	G	A	38355371	3	1	185	1	0	0	0	0	1	0	0	0	12243	1059	37	1	119	1	POLR2F	22	38355371	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	456675	38355371	12949195	1578	35853										
PLA2G6	8398	genome.wustl.edu	37	chr22	38512084	38512084	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atcaaacatggtttaaacctGagggctgagctggaggcctg	13	8	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38512084G>A	ENST00000332509.3	-	13	2060	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L	PLA2G6_ENST00000402064.1_Missense_Mutation_p.S572L|PLA2G6_ENST00000335539.3_Missense_Mutation_p.S572L	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	626	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GTTTAAACCTGAGGGCTGAGC	0.587																																																	0													62	60	60					22																	38512084		2203	4300	6503	SO:0001583	missense	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1877C>T	22.37:g.38512084G>A	ENSP00000333142:p.Ser626Leu		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S626L	ENST00000332509.3	37	c.1877	CCDS13967.1	22	.	.	.	.	.	.	.	.	.	.	g	12.17	1.858442	0.32791	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.76578	-1.03;-1.03;-1.03	4.43	3.36	0.38483	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.643703	0.15774	N	0.245265	T	0.66426	0.2788	L	0.28054	0.825	0.80722	D	1	B;B	0.22211	0.013;0.066	B;B	0.29440	0.025;0.102	T	0.62909	-0.6754	10	0.34782	T	0.22	-8.729	10.8965	0.47025	0.0:0.0:0.7306:0.2694	.	572;626	O60733-2;O60733	.;PA2G6_HUMAN	L	626;487;572;572	ENSP00000333142:S626L;ENSP00000335149:S572L;ENSP00000386100:S572L	ENSP00000333142:S626L	S	-	2	0	PLA2G6	36842030	0.993000	0.37304	0.971000	0.41717	0.106000	0.19336	2.248000	0.43160	2.009000	0.58944	0.457000	0.33378	TCA	PLA2G6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.587	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	G	NM_001004426		38512084	-1	no_errors	ENST00000332509	ensembl	human	known	70_37	missense	SNP	0.992	A	A	38512084	G	A	38512084	3	1	185	1	0	0	0	0	1	0	0	0	12032	1294	45	1	563	1	PLA2G6	22	38512084	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	156713	38512084	12792482	1579	35854										
PLA2G6	8398	genome.wustl.edu	37	chr22	38512097	38512097	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taaacctgagggctgagctgGaggcctgaggttaacgttct	14	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38512097G>C	ENST00000332509.3	-	13	2047	c.1864C>G	c.(1864-1866)Cca>Gca	p.P622A	PLA2G6_ENST00000402064.1_Missense_Mutation_p.P568A|PLA2G6_ENST00000335539.3_Missense_Mutation_p.P568A	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	622	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGCTGAGCTGGAGGCCTGAGG	0.587																																																	0													69	66	67					22																	38512097		2203	4300	6503	SO:0001583	missense	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1864C>G	22.37:g.38512097G>C	ENSP00000333142:p.Pro622Ala		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P622A	ENST00000332509.3	37	c.1864	CCDS13967.1	22	.	.	.	.	.	.	.	.	.	.	g	7.889	0.731892	0.15507	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.79247	-1.25;-1.25;-1.25	4.43	4.43	0.53597	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.123112	0.56097	D	0.000029	T	0.75708	0.3886	L	0.53561	1.675	0.80722	D	1	B;P	0.40681	0.11;0.727	B;P	0.46208	0.082;0.507	T	0.71361	-0.4616	10	0.17832	T	0.49	-1.6337	11.9968	0.53208	0.0:0.1749:0.825:0.0	.	568;622	O60733-2;O60733	.;PA2G6_HUMAN	A	622;483;568;568	ENSP00000333142:P622A;ENSP00000335149:P568A;ENSP00000386100:P568A	ENSP00000333142:P622A	P	-	1	0	PLA2G6	36842043	0.995000	0.38212	0.654000	0.29608	0.130000	0.20726	5.029000	0.64121	2.009000	0.58944	0.457000	0.33378	CCA	PLA2G6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.587	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	G	NM_001004426		38512097	-1	no_errors	ENST00000332509	ensembl	human	known	70_37	missense	SNP	0.997	C	C	38512097	G	C	38512097	3	2	185	1	0	0	0	0	1	0	0	0	12032	1174	41	1	576	1	PLA2G6	22	38512097	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	13	38512097	12792469	1580	35855										
KDELR3	11015	genome.wustl.edu	37	chr22	38875607	38875607	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccccttttaggtggtttttCtcctctgtgcctatgttaca	7	11	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38875607C>G	ENST00000216014.4	+	3	374	c.202C>G	c.(202-204)Ctc>Gtc	p.L68V	KDELR3_ENST00000409006.3_Missense_Mutation_p.L68V|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	68					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GGTGGTTTTTCTCCTCTGTGC	0.448																																					Ovarian(11;103 529 24120 28493 32980)												0													227	200	209					22																	38875607		2203	4300	6503	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.202C>G	22.37:g.38875607C>G	ENSP00000216014:p.Leu68Val		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt	p.L68V	ENST00000216014.4	37	c.202	CCDS13972.1	22	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052848	0.36181	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.28454	1.61;1.61	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.31451	0.0797	M	0.70842	2.15	0.80722	D	1	B;B	0.22003	0.01;0.063	B;B	0.30855	0.11;0.121	T	0.42498	-0.9448	10	0.66056	D	0.02	.	3.5725	0.07922	0.218:0.5979:0.0:0.1842	.	68;68	O43731;O43731-2	ERD23_HUMAN;.	V	68	ENSP00000216014:L68V;ENSP00000386918:L68V	ENSP00000216014:L68V	L	+	1	0	KDELR3	37205553	0.979000	0.34478	1.000000	0.80357	0.982000	0.71751	0.923000	0.28757	2.298000	0.77334	0.655000	0.94253	CTC	KDELR3	-	pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt		0.448	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR3	HGNC	protein_coding	OTTHUMT00000331474.1	C			38875607	1	no_errors	ENST00000409006	ensembl	human	known	70_37	missense	SNP	1.000	G	G	38875607	C	G	38875607	3	3	185	1	0	0	0	0	1	0	0	0	8141	913	32	1	212	1	KDELR3	22	38875607	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	363510	38875607	12428959	1581	35856										
DDX17	11015	genome.wustl.edu	37	chr22	38882271	38882271	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaaggcagaatttggacttCcatagccactgccattagca	8	11	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38882271C>T	ENST00000216014.4	+	0	1728				DDX17_ENST00000381633.3_Missense_Mutation_p.G543E|DDX17_ENST00000396821.3_Missense_Mutation_p.G622E|DDX17_ENST00000444597.1_Missense_Mutation_p.G72E	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					ATTTGGACTTCCATAGCCACT	0.517																																					Ovarian(11;103 529 24120 28493 32980)												0													83	73	77					22																	38882271		2203	4300	6503	SO:0001628	intergenic_variant	10521			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38882271C>T			A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G622E	ENST00000216014.4	37	c.1865	CCDS13972.1	22	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746604	0.30955	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230;ENST00000404499	T;T;T	0.30182	1.55;1.61;1.54	5.53	5.53	0.82687	.	0.566355	0.18372	N	0.143228	T	0.25754	0.0627	N	0.19112	0.55	0.53688	D	0.999972	B;B;B	0.27166	0.056;0.093;0.17	B;B;B	0.28784	0.008;0.018;0.094	T	0.04870	-1.0921	10	0.35671	T	0.21	-11.1039	19.4787	0.95000	0.0:1.0:0.0:0.0	.	624;620;74	Q59F66;Q92841-4;Q9UQL5	.;.;.	E	622;543;74;72;620;624	ENSP00000380033:G622E;ENSP00000371046:G543E;ENSP00000385536:G620E	ENSP00000371046:G543E	G	-	2	0	DDX17	37212217	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.131000	0.50515	2.583000	0.87209	0.655000	0.94253	GGA	DDX17	-	NULL		0.517	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000331474.1	C			38882271	-1	no_errors	ENST00000396821	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38882271	C	T	38882271	1	4	185	0	1	0	0	0	0	0	0	0	4349	855	30	1		1	DDX17	22	38882271	IGR	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	6664	38882271	12422295	1582	35857										
DDX17	11015	genome.wustl.edu	37	chr22	38882311	38882311	+	IGR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ataaccagctctatcggtttCactacgatcccgatagcttg	7	12	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38882311C>T	ENST00000216014.4	+	0	1728				DDX17_ENST00000381633.3_Missense_Mutation_p.E530K|DDX17_ENST00000396821.3_Missense_Mutation_p.E609K|DDX17_ENST00000444597.1_Missense_Mutation_p.E59K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CTATCGGTTTCACTACGATCC	0.502																																					Ovarian(11;103 529 24120 28493 32980)												0													74	65	68					22																	38882311		2203	4300	6503	SO:0001628	intergenic_variant	10521			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38882311C>T			A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E609K	ENST00000216014.4	37	c.1825	CCDS13972.1	22	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188365	0.38609	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230;ENST00000404499	T;T;T	0.26223	1.75;1.76;1.75	5.53	5.53	0.82687	.	0.603795	0.17488	N	0.172447	T	0.13243	0.0321	N	0.08118	0	0.40988	D	0.984836	B;B;B	0.13145	0.005;0.003;0.007	B;B;B	0.16289	0.003;0.002;0.015	T	0.07404	-1.0774	10	0.06757	T	0.87	-14.7567	15.0157	0.71581	0.0:0.8581:0.1419:0.0	.	611;607;61	Q59F66;Q92841-4;Q9UQL5	.;.;.	K	609;530;61;59;607;611	ENSP00000380033:E609K;ENSP00000371046:E530K;ENSP00000385536:E607K	ENSP00000371046:E530K	E	-	1	0	DDX17	37212257	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	2.549000	0.45803	2.583000	0.87209	0.655000	0.94253	GAA	DDX17	-	NULL		0.502	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000331474.1	C			38882311	-1	no_errors	ENST00000396821	ensembl	human	known	70_37	missense	SNP	0.999	T	T	38882311	C	T	38882311	1	4	185	0	1	0	0	0	0	0	0	0	4349	835	29	1		1	DDX17	22	38882311	IGR	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	40	38882311	12422255	1583	35858										
DMC1	11144	genome.wustl.edu	37	chr22	38951397	38951397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taattgccatactttcaattCcacctcctagtaacttactg	3	12	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:38951397C>T	ENST00000216024.2	-	6	620	c.344G>A	c.(343-345)gGa>gAa	p.G115E	DMC1_ENST00000428462.2_Missense_Mutation_p.G115E	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	115					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ACTTTCAATTCCACCTCCTAG	0.308								Homologous recombination																																									0													65	67	67					22																	38951397		2202	4286	6488	SO:0001583	missense	11144			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.344G>A	22.37:g.38951397C>T	ENSP00000216024:p.Gly115Glu		A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase	p.G115E	ENST00000216024.2	37	c.344	CCDS13973.1	22	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360119	0.82353	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567;ENST00000366173;ENST00000415483	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	6.04	6.04	0.98038	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88418	0.6431	H	0.98936	4.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92369	0.5904	10	0.87932	D	0	-0.476	18.3679	0.90398	0.0:1.0:0.0:0.0	.	115;115;115	B4DMW6;Q8IYL1;Q14565	.;.;DMC1_HUMAN	E	115	ENSP00000216024:G115E;ENSP00000412703:G115E;ENSP00000391385:G115E;ENSP00000410808:G115E	ENSP00000216024:G115E	G	-	2	0	DMC1	37281343	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.795000	0.69074	2.873000	0.98535	0.563000	0.77884	GGA	DMC1	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase		0.308	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMC1	HGNC	protein_coding	OTTHUMT00000321246.2	C	NM_007068		38951397	-1	no_errors	ENST00000216024	ensembl	human	known	70_37	missense	SNP	1.000	T	T	38951397	C	T	38951397	3	4	185	1	0	0	0	0	1	0	0	0	4589	855	30	1	714	1	DMC1	22	38951397	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	69086	38951397	12353169	1584	35859										
APOBEC3G	60489	genome.wustl.edu	37	chr22	39479792	39479792	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	taacaatgaaccttgggtcaGaggacggcatgagacttacc	11	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:39479792G>C	ENST00000407997.3	+	5	995	c.638G>C	c.(637-639)aGa>aCa	p.R213T	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R213T	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	213	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCTTGGGTCAGAGGACGGCAT	0.532																																																	0													127	106	113					22																	39479792		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.638G>C	22.37:g.39479792G>C	ENSP00000385057:p.Arg213Thr		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R213T	ENST00000407997.3	37	c.638	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.047715	0.00398	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.59906	0.23;0.23	1.44	-2.87	0.05700	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.41719	0.1171	L	0.45137	1.4	0.09310	N	1	B	0.22003	0.063	B	0.28638	0.092	T	0.16041	-1.0416	9	0.23302	T	0.38	.	2.107	0.03694	0.1171:0.1366:0.3782:0.3681	.	213	Q9HC16	ABC3G_HUMAN	T	213	ENSP00000413376:R213T;ENSP00000385057:R213T	ENSP00000385057:R213T	R	+	2	0	APOBEC3G	37809738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.972000	0.01502	-3.770000	0.00109	-2.573000	0.00170	AGA	APOBEC3G	-	pfam_APOBEC_N		0.532	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39479792	1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.000	C	C	39479792	G	C	39479792	3	2	185	1	0	0	0	0	1	0	0	0	794	942	33	1	656	1	APOBEC3G	22	39479792	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	528395	39479792	11824774	1585	35860										
SMCR7L	54471	genome.wustl.edu	37	chr22	39910250	39910250	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgaacttatttgcagagctCacccctgaagaaatagacga	9	9	1	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:39910250C>T	ENST00000325301.2	+	6	1738	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	MIEF1_ENST00000404569.1_Silent_p.L438L|MIEF1_ENST00000402881.1_Intron	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	438					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										TTGCAGAGCTCACCCCTGAAG	0.537											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													128	127	127					22																	39910250		2203	4300	6503	SO:0001819	synonymous_variant	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1314C>T	22.37:g.39910250C>T		889	Q7L890|Q9BUI3	Silent	SNP	NULL	p.L438	ENST00000325301.2	37	c.1314	CCDS13995.1	22																																																																																			SMCR7L	-	NULL		0.537	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	C	NM_019008		39910250	1	no_errors	ENST00000325301	ensembl	human	known	70_37	silent	SNP	0.998	T	T	39910250	C	T	39910250	2	4	185	1	0	0	0	0	0	0	0	1	14821	813	29	1		1	SMCR7L	22	39910250	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	430458	39910250	11394316	1586	35861										
ATF4	468	genome.wustl.edu	37	chr22	39917510	39917510	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggggacttgatgtcccccttCgaccagtcgggtttgggggc	16	11	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:39917510C>T	ENST00000337304.2	+	1	942	c.60C>T	c.(58-60)ttC>ttT	p.F20F	ATF4_ENST00000404241.2_Silent_p.F20F|ATF4_ENST00000396680.1_Silent_p.F20F	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	20					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TGTCCCCCTTCGACCAGTCGG	0.537																																																	0													64	64	64					22																	39917510		2203	4300	6503	SO:0001819	synonymous_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.60C>T	22.37:g.39917510C>T			Q9UH31	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.F20	ENST00000337304.2	37	c.60	CCDS13996.1	22																																																																																			ATF4	-	NULL		0.537	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39917510	1	no_errors	ENST00000337304	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39917510	C	T	39917510	2	4	185	1	0	0	0	0	0	0	0	1	1083	883	31	1		1	ATF4	22	39917510	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7260	39917510	11387056	1587	35862										
MEI1	150365	genome.wustl.edu	37	chr22	42174800	42174800	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaactggacagcgtggccatGaagctccttcaccaaggtgc	12	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:42174800G>A	ENST00000401548.3	+	22	2839	c.2799G>A	c.(2797-2799)atG>atA	p.M933I	MEI1_ENST00000400107.1_Intron|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.E258K	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCGTGGCCATGAAGCTCCTTC	0.582																																																	0													53	54	54					22																	42174800		2109	4233	6342	SO:0001583	missense	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2799G>A	22.37:g.42174800G>A	ENSP00000384115:p.Met933Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M933I	ENST00000401548.3	37	c.2799	CCDS46718.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517904|2.517904	0.44763|0.44763	.|.	.|.	ENSG00000167077|ENSG00000167077	ENST00000540880|ENST00000401548;ENST00000419798	T|T	0.49432|0.61980	0.78|0.06	5.11|5.11	4.08|4.08	0.47627|0.47627	.|.	.|0.211212	.|0.47455	.|D	.|0.000240	T|T	0.52468|0.52468	0.1736|0.1736	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.25441	.|0.126;0.126;0.126	.|B;B;B	.|0.25614	.|0.038;0.062;0.038	T|T	0.53920|0.53920	-0.8370|-0.8370	7|10	0.87932|0.42905	D|T	0|0.14	-10.0821|-10.0821	6.7196|6.7196	0.23323|0.23323	0.0951:0.1819:0.723:0.0|0.0951:0.1819:0.723:0.0	.|.	.|176;301;933	.|Q5TIA1-5;Q5TIA1-2;Q5TIA1	.|.;.;MEI1_HUMAN	K|I	258|933;43	ENSP00000437436:E258K|ENSP00000384115:M933I	ENSP00000437436:E258K|ENSP00000384115:M933I	E|M	+|+	1|3	0|0	MEI1|MEI1	40504746|40504746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.165000|2.165000	0.42396|0.42396	2.546000|2.546000	0.85860|0.85860	0.561000|0.561000	0.74099|0.74099	GAA|ATG	MEI1	-	NULL		0.582	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	G	NM_152513		42174800	1	no_errors	ENST00000401548	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42174800	G	A	42174800	3	1	185	1	0	0	0	0	1	0	0	0	9488	1290	45	1	2885	1	MEI1	22	42174800	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2257290	42174800	9129766	1588	35863										
CCDC134	79879	genome.wustl.edu	37	chr22	42205902	42205902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacaagaagatgtttgaggtGaagcggcgggagcagctgtt	17	5	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:42205902G>A	ENST00000255784.5	+	3	227	c.123G>A	c.(121-123)gtG>gtA	p.V41V	CCDC134_ENST00000402061.3_Silent_p.V41V	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	41						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TGTTTGAGGTGAAGCGGCGGG	0.522																																																	0													63	57	59					22																	42205902		2203	4300	6503	SO:0001819	synonymous_variant	79879			AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.123G>A	22.37:g.42205902G>A				Silent	SNP	NULL	p.V41	ENST00000255784.5	37	c.123	CCDS33654.1	22																																																																																			CCDC134	-	NULL		0.522	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC134	HGNC	protein_coding	OTTHUMT00000321964.1	G	NM_024821		42205902	1	no_errors	ENST00000255784	ensembl	human	known	70_37	silent	SNP	1.000	A	A	42205902	G	A	42205902	2	1	185	1	0	0	0	0	0	0	0	1	2773	1277	45	1		1	CCDC134	22	42205902	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	31102	42205902	9098664	1589	35864										
SCUBE1	80274	genome.wustl.edu	37	chr22	43627873	43627873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tccgttgttgaccaggcactCgttgatgtctgtgggagcca	13	10	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:43627873C>T	ENST00000360835.4	-	8	979	c.853G>A	c.(853-855)Gag>Aag	p.E285K	Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	285	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACCAGGCACTCGTTGATGTCT	0.637											OREG0026615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68	54	59					22																	43627873		2203	4300	6503	SO:0001583	missense	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.853G>A	22.37:g.43627873C>T	ENSP00000354080:p.Glu285Lys	917	Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E285K	ENST00000360835.4	37	c.853	CCDS14048.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.604529|5.604529	0.96626|0.96626	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000360835;ENST00000434132|ENST00000449304	T|.	0.36878|.	1.23|.	4.47|4.47	4.47|4.47	0.54385|0.54385	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85392|0.85392	0.5686|0.5686	M|M	0.92784|0.92784	3.345|3.345	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.89303|0.89303	0.3627|0.3627	10|5	0.87932|.	D|.	0|.	.|.	16.4156|16.4156	0.83732|0.83732	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	285|.	Q8IWY4|.	SCUB1_HUMAN|.	K|Q	285|138	ENSP00000354080:E285K|.	ENSP00000354080:E285K|.	E|R	-|-	1|2	0|0	SCUBE1|SCUBE1	41957817|41957817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	7.411000|7.411000	0.80078|0.80078	2.473000|2.473000	0.83533|0.83533	0.561000|0.561000	0.74099|0.74099	GAG|CGA	SCUBE1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.637	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	C	NM_173050		43627873	-1	no_errors	ENST00000360835	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43627873	C	T	43627873	3	4	185	1	0	0	0	0	1	0	0	0	13974	893	31	1	2173	1	SCUBE1	22	43627873	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1421971	43627873	7676693	1590	35865										
PRR5	55615	genome.wustl.edu	37	chr22	45128203	45128203	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcaccctcagtgtgaagctaGaggatgcgctggcccgggcc	14	13	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:45128203G>C	ENST00000336985.6	+	6	764	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	ARHGAP8_ENST00000517296.3_Missense_Mutation_p.E163Q|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.E186Q|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000006251.7_Missense_Mutation_p.E154Q|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.E163Q	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	163					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TGTGAAGCTAGAGGATGCGCT	0.682																																																	0													56	50	52					22																	45128203		2203	4300	6503	SO:0001583	missense	23779			AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"protein observed with Rictor-1"	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.487G>C	22.37:g.45128203G>C	ENSP00000337464:p.Glu163Gln		B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom	p.E163Q	ENST00000336985.6	37	c.487	CCDS14058.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.929369|4.929369	0.92389|0.92389	.|.	.|.	ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000248405;ENSG00000241484|ENSG00000186654	ENST00000432186;ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985;ENST00000457960;ENST00000352766;ENST00000517296|ENST00000455389	T;T;T;T;T;T;T|.	0.75589|.	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.37136|.	N|.	0.002235|.	T|.	0.60314|.	0.2259|.	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D;D;D;P;P|.	0.76494|.	0.999;0.984;0.996;0.993;0.916;0.916|.	D;P;D;D;P;P|.	0.68943|.	0.961;0.741;0.93;0.914;0.741;0.741|.	T|.	0.56950|.	-0.7894|.	10|.	0.45353|.	T|.	0.12|.	.|.	14.5476|14.5476	0.68044|0.68044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	127;186;62;163;163;163|.	B1AHF5;B1AHF6;P85299-2;B1AHC4;P85299;A8K699|.	.;.;.;.;PRR5_HUMAN;.|.	Q|Y	154;154;127;186;163;154;163;163|122	ENSP00000400925:E154Q;ENSP00000006251:E154Q;ENSP00000384848:E186Q;ENSP00000337464:E163Q;ENSP00000410215:E154Q;ENSP00000262731:E163Q;ENSP00000429240:E163Q|.	ENSP00000262731:E163Q|.	E|X	+|+	1|3	0|2	PRR5;PRR5-ARHGAP8;ARHGAP8|PRR5	43506867|43506867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	8.183000|8.183000	0.89700|0.89700	2.425000|2.425000	0.82216|0.82216	0.655000|0.655000	0.94253|0.94253	GAG|TAG	ARHGAP8	-	pfam_HbrB		0.682	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP8	HGNC	protein_coding	OTTHUMT00000318200.2	G	NM_001017528		45128203	1	no_errors	ENST00000517296	ensembl	human	known	70_37	missense	SNP	1.000	C	C	45128203	G	C	45128203	3	2	185	1	0	0	0	0	1	0	0	0	12627	943	33	1	509	1	PRR5	22	45128203	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1500330	45128203	6176363	1591	35866										
CELSR1	9620	genome.wustl.edu	37	chr22	46760101	46760101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccggcccttcagcgtctgctCcgtcagcgtcagcggcggcg	14	17	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:46760101C>T	ENST00000262738.3	-	34	8826	c.8827G>A	c.(8827-8829)Gag>Aag	p.E2943K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2943					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCGTCTGCTCCGTCAGCGTC	0.662																																																	0													38	47	44					22																	46760101		2201	4296	6497	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8827G>A	22.37:g.46760101C>T	ENSP00000262738:p.Glu2943Lys		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E2943K	ENST00000262738.3	37	c.8827	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972869	0.74246	.	.	ENSG00000075275	ENST00000262738	T	0.70516	-0.49	4.85	4.85	0.62838	.	0.119417	0.31601	U	0.007379	T	0.71550	0.3353	M	0.69823	2.125	0.80722	D	1	P	0.50443	0.935	B	0.41666	0.363	T	0.77897	-0.2416	10	0.59425	D	0.04	.	17.569	0.87930	0.0:1.0:0.0:0.0	.	2943	Q9NYQ6	CELR1_HUMAN	K	2943	ENSP00000262738:E2943K	ENSP00000262738:E2943K	E	-	1	0	CELSR1	45138765	1.000000	0.71417	0.369000	0.25952	0.439000	0.31926	5.223000	0.65283	2.211000	0.71520	0.563000	0.77884	GAG	CELSR1	-	NULL		0.662	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	C	NM_014246		46760101	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46760101	C	T	46760101	3	4	185	1	0	0	0	0	1	0	0	0	3226	864	30	1	225	1	CELSR1	22	46760101	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1631898	46760101	4544465	1592	35867										
SAPS2	9701	genome.wustl.edu	37	chr22	50845122	50845122	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gactgtgcccttttagatatCcaaacacagcctgtgagctt	8	11	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:50845122C>G	ENST00000216061.5	+	5	602	c.232C>G	c.(232-234)Cca>Gca	p.P78A	PPP6R2_ENST00000359139.3_Missense_Mutation_p.P78A|PPP6R2_ENST00000395741.3_Missense_Mutation_p.P78A|PPP6R2_ENST00000395744.3_Missense_Mutation_p.P78A			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	78						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TTTTAGATATCCAAACACAGC	0.522																																																	0													133	124	127					22																	50845122		2203	4300	6503	SO:0001583	missense	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.232C>G	22.37:g.50845122C>G	ENSP00000216061:p.Pro78Ala		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.P78A	ENST00000216061.5	37	c.232		22	.	.	.	.	.	.	.	.	.	.	c	20.4	3.990221	0.74589	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.38838	1.175	0.54753	D	0.999984	P;P;P;P;B	0.44776	0.633;0.735;0.843;0.827;0.4	B;B;P;B;P	0.48952	0.221;0.23;0.596;0.406;0.477	T	0.04128	-1.0975	10	0.62326	D	0.03	-6.2939	17.6863	0.88257	0.0:1.0:0.0:0.0	.	78;78;78;78;78	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	A	78	ENSP00000352051:P78A;ENSP00000379090:P78A;ENSP00000379093:P78A;ENSP00000216061:P78A	ENSP00000216061:P78A	P	+	1	0	PPP6R2	49191988	0.990000	0.36364	0.997000	0.53966	0.994000	0.84299	3.008000	0.49544	2.478000	0.83669	0.550000	0.68814	CCA	PPP6R2	-	superfamily_ARM-type_fold		0.522	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	C	NM_014678		50845122	1	no_errors	ENST00000216061	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50845122	C	G	50845122	3	3	185	1	0	0	0	0	1	0	0	0	13867	855	30	1	238	1	SAPS2	22	50845122	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	4085021	50845122	459444	1593	35868										
KLHDC7B	113730	genome.wustl.edu	37	chr22	50986792	50986792	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggaggtcagccacagccaaGaagctccgagaccaacggat	12	12	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:50986792G>A	ENST00000395676.2	+	1	331	c.197G>A	c.(196-198)aGa>aAa	p.R66K	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	66										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACAGCCAAGAAGCTCCGAG	0.627																																																	0													39	47	45					22																	50986792		692	1591	2283	SO:0001583	missense	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.197G>A	22.37:g.50986792G>A	ENSP00000379034:p.Arg66Lys			Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.R66K	ENST00000395676.2	37	c.197	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	7.098	0.573448	0.13623	.	.	ENSG00000130487	ENST00000395676	D	0.81996	-1.56	3.72	-1.28	0.09318	.	.	.	.	.	T	0.57548	0.2061	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.49093	-0.8975	9	0.05351	T	0.99	.	0.7942	0.01063	0.2318:0.3071:0.2833:0.1778	.	66	Q96G42	KLD7B_HUMAN	K	66	ENSP00000379034:R66K	ENSP00000379034:R66K	R	+	2	0	KLHDC7B	49333658	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	-0.160000	0.10041	0.221000	0.20879	0.485000	0.47835	AGA	KLHDC7B	-	NULL		0.627	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	G	NM_138433		50986792	1	no_errors	ENST00000395676	ensembl	human	known	70_37	missense	SNP	0.000	A	A	50986792	G	A	50986792	3	1	185	1	0	0	0	0	1	0	0	0	8381	942	33	1	199	1	KLHDC7B	22	50986792	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	141670	50986792	317774	1594	35869										
KLHDC7B	113730	genome.wustl.edu	37	chr22	50986843	50986843	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agaccctcccccaggcctaaGaggagagggaaccagggaga	14	12	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chr22:50986843G>C	ENST00000395676.2	+	1	382	c.248G>C	c.(247-249)aGa>aCa	p.R83T	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	83										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGCCTAAGAGGAGAGGGA	0.701																																																	0													11	15	14					22																	50986843		1856	3861	5717	SO:0001583	missense	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.248G>C	22.37:g.50986843G>C	ENSP00000379034:p.Arg83Thr			Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.R83T	ENST00000395676.2	37	c.248	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949607	0.34377	.	.	ENSG00000130487	ENST00000395676	D	0.82893	-1.66	3.53	2.41	0.29592	.	.	.	.	.	T	0.66528	0.2798	N	0.24115	0.695	0.09310	N	1	B	0.25105	0.118	B	0.21151	0.033	T	0.50939	-0.8768	9	0.15499	T	0.54	.	5.1149	0.14829	0.1731:0.0:0.8269:0.0	.	83	Q96G42	KLD7B_HUMAN	T	83	ENSP00000379034:R83T	ENSP00000379034:R83T	R	+	2	0	KLHDC7B	49333709	0.000000	0.05858	0.002000	0.10522	0.576000	0.36127	0.340000	0.19892	1.810000	0.52873	0.485000	0.47835	AGA	KLHDC7B	-	NULL		0.701	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	G	NM_138433		50986843	1	no_errors	ENST00000395676	ensembl	human	known	70_37	missense	SNP	0.001	C	C	50986843	G	C	50986843	3	2	185	1	0	0	0	0	1	0	0	0	8381	942	33	1	250	1	KLHDC7B	22	50986843	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	51	50986843	317723	1595	35870										
ASMT	438	genome.wustl.edu	37	chrX	1734097	1734097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctggattggagacaagatggGatcctcagaggaccaggcct	14	9	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:1734097G>A	ENST00000381229.4	+	1	41	c.5G>A	c.(4-6)gGa>gAa	p.G2E	ASMT_ENST00000381233.3_Missense_Mutation_p.G2E|ASMT_ENST00000381241.3_Missense_Mutation_p.G2E			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	2					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GACAAGATGGGATCCTCAGAG	0.592																																																	0													254	195	215					X																	1734097		2198	4293	6491	SO:0001583	missense	438			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.5G>A	X.37:g.1734097G>A	ENSP00000370627:p.Gly2Glu		B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	pfam_O_MeTrfase_2,pirsf_O-MeTrfase_CAOMT-type	p.G2E	ENST00000381229.4	37	c.5		X	.	.	.	.	.	.	.	.	.	.	g	2.884	-0.231091	0.05983	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.02197	4.76;4.66;4.4	1.85	0.88	0.19161	.	1.610720	0.04257	N	0.339673	T	0.01905	0.0060	N	0.22421	0.69	0.21445	N	0.999687	B;B	0.33583	0.178;0.418	B;B	0.31101	0.124;0.124	T	0.48670	-0.9015	10	0.15066	T	0.55	.	6.172	0.20422	0.0:0.3159:0.6841:0.0	.	2;2	P46597-2;P46597-3	.;.	E	2	ENSP00000370639:G2E;ENSP00000370627:G2E;ENSP00000370631:G2E	ENSP00000370627:G2E	G	+	2	0	ASMT	1694097	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	-0.399000	0.07250	-0.137000	0.11455	0.273000	0.19326	GGA	ASMT	-	pirsf_O-MeTrfase_CAOMT-type		0.592	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	G	NM_004043		1734097	1	no_errors	ENST00000381241	ensembl	human	known	70_37	missense	SNP	0.001	A	A	1734097	G	A	1734097	3	1	185	1	0	0	0	0	1	0	0	0	1046	1174	41	1	7	1	ASMT	23	1734097	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09		1734097	153536463	1596	35871										
GYG2	8908	genome.wustl.edu	37	chrX	2773193	2773193	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccatggaacacggcagctttGacggtaagtcagggcagccc	13	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:2773193G>T	ENST00000381163.3	+	6	859	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	GYG2_ENST00000338623.5_Missense_Mutation_p.D193Y|GYG2_ENST00000542787.1_Missense_Mutation_p.D193Y|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.D162Y|GYG2-AS1_ENST00000445107.1_RNA	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	193					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCAGCTTTGACGGTAAGTC	0.547																																																	0													84	66	72					X																	2773193		2203	4299	6502	SO:0001583	missense	8908			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.577G>T	X.37:g.2773193G>T	ENSP00000370555:p.Asp193Tyr		B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.D193Y	ENST00000381163.3	37	c.577	CCDS14121.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.661484|2.661484	0.47572|0.47572	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787|ENST00000381157	T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93|.	3.47|3.47	3.47|3.47	0.39725|0.39725	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	D|.	0.85478|.	0.5706|.	H|H	0.94542|0.94542	3.55|3.55	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D|.	0.90128|.	0.4204|.	10|.	0.87932|.	D|.	0|.	.|.	14.664|14.664	0.68893|0.68893	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	193;193;153;162;162;193|.	O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488|.	.;.;.;.;.;GLYG2_HUMAN|.	Y|L	162;193;193;193|11	ENSP00000381786:D162Y;ENSP00000370555:D193Y;ENSP00000341273:D193Y;ENSP00000446092:D193Y|.	ENSP00000341273:D193Y|.	D|X	+|+	1|2	0|2	GYG2|GYG2	2783193|2783193	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.085000|0.085000	0.17905|0.17905	7.703000|7.703000	0.84585|0.84585	1.519000|1.519000	0.48950|0.48950	0.600000|0.600000	0.82982|0.82982	GAC|TGA	GYG2	-	pfam_Glyco_trans_8		0.547	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	G	NM_003918		2773193	1	no_errors	ENST00000381163	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2773193	G	T	2773193	3	4	185	1	0	0	0	0	1	0	0	0	6926	1290	45	3	595	3	GYG2	23	2773193	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1039096	2773193	152497367	1597	35872										
SHROOM2	357	genome.wustl.edu	37	chrX	9914963	9914963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tattggacagccttcagcccGaaaggggcaaataagagacc	11	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:9914963G>A	ENST00000380913.3	+	10	4927	c.4837G>A	c.(4837-4839)Gaa>Aaa	p.E1613K	SHROOM2_ENST00000418909.2_Missense_Mutation_p.E448K	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1613					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTTCAGCCCGAAAGGGGCAA	0.572																																																	0													20	17	18					X																	9914963		2191	4298	6489	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4837G>A	X.37:g.9914963G>A	ENSP00000370299:p.Glu1613Lys		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1613K	ENST00000380913.3	37	c.4837	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995599	0.93167	.	.	ENSG00000146950	ENST00000380913;ENST00000418909	T;T	0.37752	2.04;1.18	4.47	4.47	0.54385	.	0.063742	0.64402	D	0.000010	T	0.49029	0.1533	L	0.29908	0.895	0.49687	D	0.999811	D;D	0.89917	0.991;1.0	P;D	0.75484	0.468;0.986	T	0.54873	-0.8228	10	0.72032	D	0.01	-16.1213	16.8575	0.86009	0.0:0.0:1.0:0.0	.	447;1613	Q68DU3;Q13796	.;SHRM2_HUMAN	K	1613;448	ENSP00000370299:E1613K;ENSP00000415229:E448K	ENSP00000370299:E1613K	E	+	1	0	SHROOM2	9874963	0.942000	0.31987	0.023000	0.16930	0.230000	0.25150	3.606000	0.54095	1.984000	0.57885	0.594000	0.82650	GAA	SHROOM2	-	NULL		0.572	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	G	NM_001649		9914963	1	no_errors	ENST00000380913	ensembl	human	known	70_37	missense	SNP	0.939	A	A	9914963	G	A	9914963	3	1	185	1	0	0	0	0	1	0	0	0	14324	1059	37	1	4875	1	SHROOM2	23	9914963	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7141770	9914963	145355597	1598	35873										
AMELX	265	genome.wustl.edu	37	chrX	11316904	11316904	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccgcccgcccagcagccctaCcagccccagcctgttcagcc	8	23	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:11316904C>G	ENST00000380714.3	+	5	449	c.381C>G	c.(379-381)taC>taG	p.Y127*	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380712.3_Nonsense_Mutation_p.Y141*|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Nonsense_Mutation_p.Y111*|ARHGAP6_ENST00000413512.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	127					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AGCAGCCCTACCAGCCCCAGC	0.657																																																	0													72	63	66					X																	11316904		2203	4300	6503	SO:0001587	stop_gained	265				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"amelogenesis imperfecta 1"	300391	"amelogenin (X chromosome, amelogenesis imperfecta 1)"	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.381C>G	X.37:g.11316904C>G	ENSP00000370090:p.Tyr127*		Q96NW6|Q9UCA7	Nonsense_Mutation	SNP	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	p.Y141*	ENST00000380714.3	37	c.423	CCDS14144.1	X	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328358	0.81690	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	.	.	.	4.71	4.71	0.59529	.	0.749920	0.12467	N	0.466362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	3.1086	9.7639	0.40548	0.0:0.8992:0.0:0.1008	.	.	.	.	X	127;141;111	.	ENSP00000335312:Y111X	Y	+	3	2	AMELX	11226825	0.910000	0.30920	0.991000	0.47740	0.898000	0.52572	1.566000	0.36396	2.086000	0.62901	0.415000	0.27848	TAC	AMELX	-	pfam_Amelogenin,smart_Amelogenin		0.657	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMELX	HGNC	protein_coding	OTTHUMT00000055746.1	C	NM_001142		11316904	1	no_errors	ENST00000380712	ensembl	human	known	70_37	nonsense	SNP	0.994	G	G	11316904	C	G	11316904	4	3	185	1	0	0	0	0	0	1	0	0	569	518	18	4	441	4	AMELX	23	11316904	Nonsense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1401941	11316904	143953656	1599	35874										
FAM9C	171484	genome.wustl.edu	37	chrX	13061280	13061280	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgtttcagcaaaagatcctCtttccccatgctcatcagtt	5	13	4	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:13061280C>T	ENST00000333995.3	-	3	279	c.149G>A	c.(148-150)aGa>aAa	p.R50K	FAM9C_ENST00000542843.1_Missense_Mutation_p.R50K|FAM9C_ENST00000380625.3_Missense_Mutation_p.R50K			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	50						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						AAAAGATCCTCTTTCCCCATG	0.413																																																	0													221	168	186					X																	13061280		2203	4300	6503	SO:0001583	missense	171484				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"testis expressed 39C"	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.149G>A	X.37:g.13061280C>T	ENSP00000334430:p.Arg50Lys		B2R9G7|Q5HYJ6	Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.R50K	ENST00000333995.3	37	c.149	CCDS35203.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.000|7.000	0.554743|0.554743	0.13436|0.13436	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000438997|ENST00000542843;ENST00000380625;ENST00000333995	.|T;T;T	.|0.20881	.|2.04;2.04;2.04	0.118|0.118	0.118|0.118	0.14667|0.14667	.|.	.|.	.|.	.|.	.|.	T|T	0.12603|0.12603	0.0306|0.0306	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|P	.|0.38711	.|0.643	.|B	.|0.41691	.|0.364	T|T	0.14755|0.14755	-1.0461|-1.0461	4|8	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|50	.|Q8IZT9	.|FAM9C_HUMAN	K|K	10|50	.|ENSP00000439185:R50K;ENSP00000369999:R50K;ENSP00000334430:R50K	.|ENSP00000334430:R50K	E|R	-|-	1|2	0|0	FAM9C|FAM9C	12971201|12971201	0.003000|0.003000	0.15002|0.15002	0.006000|0.006000	0.13384|0.13384	0.006000|0.006000	0.05464|0.05464	-0.055000|-0.055000	0.11807|0.11807	0.179000|0.179000	0.19938|0.19938	0.181000|0.181000	0.17075|0.17075	GAG|AGA	FAM9C	-	NULL		0.413	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	FAM9C	HGNC	protein_coding	OTTHUMT00000316476.1	C	NM_174901		13061280	-1	no_errors	ENST00000333995	ensembl	human	known	70_37	missense	SNP	0.006	T	T	13061280	C	T	13061280	3	4	185	1	0	0	0	0	1	0	0	0	5679	913	32	1	371	1	FAM9C	23	13061280	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1744376	13061280	142209280	1600	35875										
GPR64	10149	genome.wustl.edu	37	chrX	19021127	19021127	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gagatgcagaggccttgcatCttatacagagcaatccacga	10	10	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:19021127C>G	ENST00000379869.3	-	24	2230	c.2067G>C	c.(2065-2067)aaG>aaC	p.K689N	GPR64_ENST00000357991.3_Missense_Mutation_p.K686N|GPR64_ENST00000360279.4_Missense_Mutation_p.K667N|GPR64_ENST00000379873.2_Missense_Mutation_p.K689N|GPR64_ENST00000379878.3_Missense_Mutation_p.K673N|GPR64_ENST00000357544.3_Missense_Mutation_p.K659N|GPR64_ENST00000379876.1_Missense_Mutation_p.K665N|GPR64_ENST00000356606.4_Missense_Mutation_p.K675N|GPR64_ENST00000354791.3_Missense_Mutation_p.K673N|GPR64_ENST00000340581.3_Missense_Mutation_p.K570N	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	689					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGCCTTGCATCTTATACAGAG	0.493																																																	0													87	79	82					X																	19021127		2203	4300	6503	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2067G>C	X.37:g.19021127C>G	ENSP00000369198:p.Lys689Asn		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K689N	ENST00000379869.3	37	c.2067	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.230970	0.01518	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.36	1.42	0.22433	GPCR, family 2-like (1);	0.479462	0.18667	N	0.134556	T	0.11024	0.0269	N	0.02181	-0.65	0.20638	N	0.999878	B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.11329	0.006;0.001;0.002;0.001;0.001;0.001;0.001;0.001;0.001;0.002;0.002	T	0.27054	-1.0085	10	0.02654	T	1	.	1.2871	0.02052	0.228:0.1322:0.4068:0.233	.	570;651;659;665;673;689;667;675;686;689;673	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	N	689;673;673;665;659;689;667;686;675;570	ENSP00000369202:K689N;ENSP00000369207:K673N;ENSP00000346845:K673N;ENSP00000369205:K665N;ENSP00000350152:K659N;ENSP00000369198:K689N;ENSP00000353421:K667N;ENSP00000350680:K686N;ENSP00000349015:K675N;ENSP00000344972:K570N	ENSP00000344972:K570N	K	-	3	2	GPR64	18931048	0.031000	0.19500	0.010000	0.14722	0.837000	0.47467	0.266000	0.18534	0.079000	0.16929	0.544000	0.68410	AAG	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.493	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19021127	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	0.279	G	G	19021127	C	G	19021127	3	3	185	1	0	0	0	0	1	0	0	0	6724	912	32	1	1010	1	GPR64	23	19021127	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	5959847	19021127	136249433	1601	35876										
MAP7D2	256714	genome.wustl.edu	37	chrX	20029053	20029053	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gggggaccagtgaaatctaaGagatcttgaagtgctcgggc	15	7	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:20029053G>C	ENST00000379651.3	-	15	2085	c.2067C>G	c.(2065-2067)ctC>ctG	p.L689L	MAP7D2_ENST00000452324.3_Silent_p.L637L|MAP7D2_ENST00000379643.5_Silent_p.L730L|MAP7D2_ENST00000543767.1_Silent_p.L574L|MAP7D2_ENST00000443379.3_Silent_p.L644L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	689					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGAAATCTAAGAGATCTTGAA	0.458																																																	0													94	87	89					X																	20029053		2203	4300	6503	SO:0001819	synonymous_variant	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.2067C>G	X.37:g.20029053G>C			B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	pfam_E-MAP-115	p.L730	ENST00000379651.3	37	c.2190	CCDS14195.1	X																																																																																			MAP7D2	-	NULL		0.458	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	G	NM_152780		20029053	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	silent	SNP	0.995	C	C	20029053	G	C	20029053	2	2	185	1	0	0	0	0	0	0	0	1	9291	929	33	1		1	MAP7D2	23	20029053	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1007926	20029053	135241507	1602	35877										
MAP7D2	256714	genome.wustl.edu	37	chrX	20043927	20043927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gctgagccaaggtaccttccCtttccttgttgctcttctct	7	14	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:20043927C>T	ENST00000379651.3	-	8	1046	c.1028G>A	c.(1027-1029)aGg>aAg	p.R343K	MAP7D2_ENST00000452324.3_Missense_Mutation_p.R291K|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R384K|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R228K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R298K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	343					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGTACCTTCCCTTTCCTTGTT	0.572																																																	0													235	192	206					X																	20043927		2203	4300	6503	SO:0001583	missense	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1028G>A	X.37:g.20043927C>T	ENSP00000368972:p.Arg343Lys		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.R384K	ENST00000379651.3	37	c.1151	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	6.557	0.471113	0.12461	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.34275	1.37;1.37;3.64;1.37;1.37	5.31	0.173	0.15036	.	0.296696	0.28493	N	0.015148	T	0.14527	0.0351	N	0.16098	0.37	0.09310	N	0.999998	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.0;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.003;0.001;0.003	T	0.32719	-0.9896	10	0.05351	T	0.99	-8.4616	7.0703	0.25175	0.0:0.4526:0.0:0.5474	.	298;291;384;343;228	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	K	343;384;228;298;291	ENSP00000368972:R343K;ENSP00000368964:R384K;ENSP00000440691:R228K;ENSP00000388239:R298K;ENSP00000413301:R291K	ENSP00000368964:R384K	R	-	2	0	MAP7D2	19953848	0.357000	0.24938	0.429000	0.26710	0.410000	0.31052	-0.037000	0.12164	0.056000	0.16144	0.600000	0.82982	AGG	MAP7D2	-	NULL		0.572	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	C	NM_152780		20043927	-1	no_errors	ENST00000379643	ensembl	human	known	70_37	missense	SNP	0.600	T	T	20043927	C	T	20043927	3	4	185	1	0	0	0	0	1	0	0	0	9291	681	24	4	1202	4	MAP7D2	23	20043927	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	14874	20043927	135226633	1603	35878										
ZFX	7543	genome.wustl.edu	37	chrX	24197734	24197734	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atgatagtgtagtggaagcaGaaattgtcactgatcctctg	11	6	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:24197734G>A	ENST00000379177.1	+	6	920	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	ZFX_ENST00000304543.5_Missense_Mutation_p.E165K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.E165K|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.E204K|ZFX_ENST00000338565.3_Missense_Mutation_p.E165K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	165					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGTGGAAGCAGAAATTGTCAC	0.453																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													236	182	200					X																	24197734		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.493G>A	X.37:g.24197734G>A	ENSP00000368475:p.Glu165Lys		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E204K	ENST00000379177.1	37	c.610	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454382	0.84209	.	.	ENSG00000005889	ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.97	5.97	0.96955	Transcriptional activator, Zfx / Zfy domain (1);	0.078207	0.52532	D	0.000070	T	0.65249	0.2673	L	0.56769	1.78	0.80722	D	1	P;D;P;D	0.55385	0.879;0.971;0.505;0.967	P;P;B;P	0.55260	0.676;0.716;0.171;0.772	T	0.62263	-0.6891	9	.	.	.	-1.1415	19.371	0.94484	0.0:0.0:1.0:0.0	.	204;165;165;169	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	K	165;165;165;165;204;165	ENSP00000368486:E165K;ENSP00000368475:E165K;ENSP00000304985:E165K;ENSP00000441382:E204K;ENSP00000343384:E165K	.	E	+	1	0	ZFX	24107655	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.094000	0.64523	2.527000	0.85204	0.600000	0.82982	GAA	ZFX	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.453	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	G	NM_003410		24197734	1	no_errors	ENST00000540034	ensembl	human	known	70_37	missense	SNP	1.000	A	A	24197734	G	A	24197734	3	1	185	1	0	0	0	0	1	0	0	0	17691	943	33	1	499	1	ZFX	23	24197734	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4153807	24197734	131072826	1604	35879										
PRRG1	5638	genome.wustl.edu	37	chrX	37312502	37312502	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttggcctcttcattatcctCcttgtcattttcctaatctg	4	12	4	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:37312502C>G	ENST00000542554.1	+	5	557	c.285C>G	c.(283-285)ctC>ctG	p.L95L	PRRG1_ENST00000543642.1_Silent_p.L95L|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Silent_p.L95L|PRRG1_ENST00000378628.4_Silent_p.L95L	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	95						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TCATTATCCTCCTTGTCATTT	0.433																																																	0													159	118	132					X																	37312502		2202	4300	6502	SO:0001819	synonymous_variant	5638			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.285C>G	X.37:g.37312502C>G			B2R7A3|C9JXL7|D3DWA9|Q5JT66	Silent	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.L95	ENST00000542554.1	37	c.285	CCDS14239.1	X																																																																																			PRRG1	-	NULL		0.433	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2	C	NM_000950		37312502	1	no_errors	ENST00000378628	ensembl	human	known	70_37	silent	SNP	0.996	G	G	37312502	C	G	37312502	2	3	185	1	0	0	0	0	0	0	0	1	12632	842	30	1		1	PRRG1	23	37312502	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	13114768	37312502	117958058	1605	35880										
DDX3X	1654	genome.wustl.edu	37	chrX	41204678	41204678	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgctggctcgtgatttcttaGatgaatatatcttcttggct	9	7	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:41204678G>C	ENST00000399959.2	+	12	2047	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.D382H|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	398	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGATTTCTTAGATGAATATAT	0.328										HNSCC(61;0.18)																																							0													65	59	61					X																	41204678		1993	4159	6152	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1192G>C	X.37:g.41204678G>C	ENSP00000382840:p.Asp398His		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D398H	ENST00000399959.2	37	c.1192	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	g	15.94	2.981789	0.53827	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.05025	3.51;3.51	5.17	5.17	0.71159	DEAD-like helicase (2);	0.092688	0.64402	D	0.000001	T	0.06280	0.0162	N	0.16833	0.445	0.80722	D	1	B;B;B;B	0.16166	0.016;0.001;0.015;0.015	B;B;B;B	0.23716	0.048;0.004;0.011;0.011	T	0.41502	-0.9505	10	0.38643	T	0.18	-28.6556	17.8572	0.88769	0.0:0.0:1.0:0.0	.	398;382;410;398	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	H	398;382	ENSP00000382840:D398H;ENSP00000392494:D382H	ENSP00000382840:D398H	D	+	1	0	DDX3X	41089622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.798000	0.99111	2.149000	0.67028	0.525000	0.51046	GAT	DDX3X	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.328	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	G	NM_024005		41204678	1	no_errors	ENST00000399959	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41204678	G	C	41204678	3	2	185	1	0	0	0	0	1	0	0	0	4363	942	33	1	1238	1	DDX3X	23	41204678	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3892176	41204678	114065882	1606	35881										
CASK	8573	genome.wustl.edu	37	chrX	41401971	41401971	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gtgctttgccaaatatttatCtttgtactgcttctttttct	5	8	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:41401971C>G	ENST00000378163.1	-	22	2602	c.2128G>C	c.(2128-2130)Gat>Cat	p.D710H	CASK_ENST00000442742.2_Missense_Mutation_p.D687H|CASK_ENST00000378166.4_Missense_Mutation_p.D710H|CASK_ENST00000378158.1_Missense_Mutation_p.D698H|CASK_ENST00000361962.4_Missense_Mutation_p.D698H|CASK_ENST00000421587.2_Missense_Mutation_p.D681H|CASK_ENST00000318588.9_Missense_Mutation_p.D710H			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	710			D -> G (in MICPCH). {ECO:0000269|PubMed:19377476}.		calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AAATATTTATCTTTGTACTGC	0.423																																					NSCLC(42;104 1086 3090 27189 35040)												0													194	143	160					X																	41401971		2203	4300	6503	SO:0001583	missense	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2128G>C	X.37:g.41401971C>G	ENSP00000367405:p.Asp710His		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.D710H	ENST00000378163.1	37	c.2128		X	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851803	0.91355	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.73	5.73	0.89815	Src homology-3 domain (1);	0.000000	0.64402	D	0.000017	D	0.91768	0.7396	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;0.988;0.999;0.999	D;D;P;D;D	0.75484	0.984;0.986;0.842;0.945;0.957	D	0.92303	0.5851	10	0.72032	D	0.01	.	19.1596	0.93526	0.0:1.0:0.0:0.0	.	681;687;710;710;302	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	H	681;710;698;710;302;165;698;710;687	ENSP00000400526:D681H;ENSP00000322727:D710H;ENSP00000354641:D698H;ENSP00000367405:D710H;ENSP00000367421:D302H;ENSP00000367410:D165H;ENSP00000367400:D698H;ENSP00000367408:D710H;ENSP00000398007:D687H	ENSP00000322727:D710H	D	-	1	0	CASK	41286915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.561000	0.86390	0.523000	0.50628	GAT	CASK	-	superfamily_SH3_domain		0.423	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	C	NM_003688		41401971	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41401971	C	G	41401971	3	3	185	1	0	0	0	0	1	0	0	0	2670	913	32	1	676	1	CASK	23	41401971	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	197293	41401971	113868589	1607	35882										
USP11	8237	genome.wustl.edu	37	chrX	47106748	47106748	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	atccagccacagaatgagtcGaatccggagctgtacaaata	9	10	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:47106748G>A	ENST00000218348.3	+	19	2595	c.2595G>A	c.(2593-2595)tcG>tcA	p.S865S	USP11_ENST00000377107.2_Silent_p.S822S	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	865	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AGAATGAGTCGAATCCGGAGC	0.562																																																	0													70	63	66					X																	47106748		2203	4300	6503	SO:0001819	synonymous_variant	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2595G>A	X.37:g.47106748G>A			B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.S865	ENST00000218348.3	37	c.2595	CCDS14277.1	X																																																																																			USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.562	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47106748	1	no_errors	ENST00000218348	ensembl	human	known	70_37	silent	SNP	0.000	A	A	47106748	G	A	47106748	2	1	185	1	0	0	0	0	0	0	0	1	17073	1045	37	1		1	USP11	23	47106748	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	5704777	47106748	108163812	1608	35883										
CFP	5199	genome.wustl.edu	37	chrX	47487588	47487588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agagcactgcccattccagcCcacacagcgccggtaccgca	9	18	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:47487588C>G	ENST00000396992.3	-	3	436	c.316G>C	c.(316-318)Ggc>Cgc	p.G106R	CFP_ENST00000377005.2_Missense_Mutation_p.G106R|CFP_ENST00000480317.1_5'UTR|CFP_ENST00000247153.3_Missense_Mutation_p.G106R	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	106	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCATTCCAGCCCACACAGCGC	0.647																																																	0													55	45	48					X																	47487588		2203	4300	6503	SO:0001583	missense	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.316G>C	X.37:g.47487588C>G	ENSP00000380189:p.Gly106Arg		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G106R	ENST00000396992.3	37	c.316	CCDS14282.1	X	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812924	0.50527	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.54279	0.58;0.58;0.58	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	L	0.52823	1.66	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69292	-0.5183	10	0.62326	D	0.03	.	14.562	0.68148	0.0:1.0:0.0:0.0	.	42;106	B3KVK6;P27918	.;PROP_HUMAN	R	106	ENSP00000380189:G106R;ENSP00000247153:G106R;ENSP00000366204:G106R	ENSP00000247153:G106R	G	-	1	0	CFP	47372532	0.927000	0.31430	0.389000	0.26208	0.023000	0.10783	2.539000	0.45718	2.517000	0.84864	0.600000	0.82982	GGC	CFP	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.647	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	C	NM_002621		47487588	-1	no_errors	ENST00000247153	ensembl	human	known	70_37	missense	SNP	0.701	G	G	47487588	C	G	47487588	3	3	185	1	0	0	0	0	1	0	0	0	3298	623	22	4	1121	4	CFP	23	47487588	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	380840	47487588	107782972	1609	35884										
ZNF81	347344	genome.wustl.edu	37	chrX	47755275	47755275	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctaaaccagaggtcatcttCaagttggagcaaggagaggg	13	8	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:47755275C>G	ENST00000376954.1	+	5	581	c.213C>G	c.(211-213)ttC>ttG	p.F71L	ZNF81_ENST00000338637.7_Missense_Mutation_p.F71L			P51508	ZNF81_HUMAN	zinc finger protein 81	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGGTCATCTTCAAGTTGGAGC	0.502																																																	0													78	74	76					X																	47755275		2203	4300	6503	SO:0001583	missense	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.213C>G	X.37:g.47755275C>G	ENSP00000366153:p.Phe71Leu		Q6RX22|Q96QH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F71L	ENST00000376954.1	37	c.213	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603552	0.28534	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000376950;ENST00000399918	T;T;T	0.45276	0.9;0.9;0.9	4.06	2.25	0.28309	Krueppel-associated box (3);	0.156649	0.30356	N	0.009802	T	0.20981	0.0505	N	0.25485	0.75	0.22656	N	0.998881	P	0.38767	0.646	B	0.31101	0.124	T	0.11518	-1.0584	10	0.22706	T	0.39	.	6.0608	0.19837	0.0:0.7494:0.0:0.2506	.	71	P51508	ZNF81_HUMAN	L	71	ENSP00000366153:F71L;ENSP00000341151:F71L;ENSP00000366149:F71L	ENSP00000341151:F71L	F	+	3	2	ZNF81	47640219	0.984000	0.35163	0.998000	0.56505	0.837000	0.47467	0.110000	0.15437	0.318000	0.23185	0.594000	0.82650	TTC	ZNF81	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.502	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	C	NM_007137		47755275	1	no_errors	ENST00000338637	ensembl	human	known	70_37	missense	SNP	0.998	G	G	47755275	C	G	47755275	3	3	185	1	0	0	0	0	1	0	0	0	18204	825	29	1	223	1	ZNF81	23	47755275	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	267687	47755275	107515285	1610	35885										
SSX1	6756	genome.wustl.edu	37	chrX	48121241	48121241	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttcggcaggctccacagaatCatcccgaaggtgagtatctc	10	12	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:48121241C>T	ENST00000376919.3	+	5	457	c.321C>T	c.(319-321)atC>atT	p.I107I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						TCCACAGAATCATCCCGAAGG	0.413			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)			Dom	yes		X	Xp11.23-p11.22	6756	"synovial sarcoma, X breakpoint 1"		M	0													111	101	104					X																	48121241		2203	4299	6502	SO:0001819	synonymous_variant	6756			BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"cancer/testis antigen family 5, member 1"	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.321C>T	X.37:g.48121241C>T			A3KN76|Q08AJ2|Q5JQ64	Silent	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.I107	ENST00000376919.3	37	c.321	CCDS14290.1	X																																																																																			SSX1	-	NULL		0.413	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX1	HGNC	protein_coding	OTTHUMT00000056485.1	C	NM_005635		48121241	1	no_errors	ENST00000376919	ensembl	human	known	70_37	silent	SNP	0.000	T	T	48121241	C	T	48121241	2	4	185	1	0	0	0	0	0	0	0	1	15233	816	29	1		1	SSX1	23	48121241	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	365966	48121241	107149319	1611	35886										
TBC1D25	4943	genome.wustl.edu	37	chrX	48399807	48399807	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gacgtgttgcagcacatcctCatccgagcctttgatttgag	10	11	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:48399807C>T	ENST00000376771.4	+	2	551	c.210C>T	c.(208-210)ctC>ctT	p.L70L	TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	70					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGCACATCCTCATCCGAGCCT	0.557																																																	0													171	142	152					X																	48399807		2203	4300	6503	SO:0001819	synonymous_variant	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.210C>T	X.37:g.48399807C>T			Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L70	ENST00000376771.4	37	c.210	CCDS35242.1	X																																																																																			TBC1D25	-	NULL		0.557	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	C	NM_002536		48399807	1	no_errors	ENST00000376771	ensembl	human	known	70_37	silent	SNP	0.993	T	T	48399807	C	T	48399807	2	4	185	1	0	0	0	0	0	0	0	1	15645	813	29	1		1	TBC1D25	23	48399807	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	278566	48399807	106870753	1612	35887										
HDAC6	10013	genome.wustl.edu	37	chrX	48674575	48674575	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctgaggtaccccagcgcatCttgcggatcatgtgccgtct	11	14	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:48674575C>G	ENST00000334136.5	+	18	1699	c.1521C>G	c.(1519-1521)atC>atG	p.I507M	HDAC6_ENST00000444343.2_Missense_Mutation_p.I521M|HDAC6_ENST00000376619.2_Missense_Mutation_p.I507M			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	507	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCCAGCGCATCTTGCGGATCA	0.647																																					Pancreas(112;205 1675 2305 8976 15959)												0													98	79	85					X																	48674575		2203	4300	6503	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1521C>G	X.37:g.48674575C>G	ENSP00000334061:p.Ile507Met		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.I521M	ENST00000334136.5	37	c.1563	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993464	0.35131	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.71579	-0.58;-0.58;-0.58	5.85	3.85	0.44370	Histone deacetylase domain (2);	0.174104	0.47093	D	0.000241	T	0.79435	0.4445	M	0.76938	2.355	0.80722	D	1	D;D;D	0.76494	0.981;0.999;0.981	P;D;P	0.79784	0.882;0.993;0.882	T	0.78914	-0.2016	10	0.87932	D	0	-13.2619	2.5883	0.04836	0.231:0.4919:0.0:0.277	.	497;155;507	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	M	521;507;507;507	ENSP00000398566:I521M;ENSP00000334061:I507M;ENSP00000365804:I507M	ENSP00000334061:I507M	I	+	3	3	HDAC6	48559519	0.027000	0.19231	0.099000	0.21106	0.144000	0.21451	0.102000	0.15272	1.207000	0.43291	0.594000	0.82650	ATC	HDAC6	-	pfam_His_deacetylse_dom		0.647	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	C	NM_006044		48674575	1	no_errors	ENST00000444343	ensembl	human	known	70_37	missense	SNP	0.503	G	G	48674575	C	G	48674575	3	3	185	1	0	0	0	0	1	0	0	0	7031	903	32	1	1587	1	HDAC6	23	48674575	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	274768	48674575	106595985	1613	35888										
PLP2	5355	genome.wustl.edu	37	chrX	49030742	49030742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctatgtcaccttccccgttCggcagccaagacatacagca	7	16	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:49030742C>T	ENST00000376327.5	+	4	481	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	136	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CTTCCCCGTTCGGCAGCCAAG	0.557													C|||	1	0.000264901	8e-04	0	3775	,	,		13159	0		0	False		,,,				2504	0																0													99	74	83					X																	49030742		2203	4300	6503	SO:0001583	missense	5355			L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"A4 differentiation-dependent protein"	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.406C>T	X.37:g.49030742C>T	ENSP00000365505:p.Arg136Trp		A6NDT7|Q32MM8	Missense_Mutation	SNP	pfam_MARVEL-like_dom	p.R136W	ENST00000376327.5	37	c.406	CCDS14319.1	X	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430590	0.43122	.	.	ENSG00000102007	ENST00000376327	T	0.32023	1.47	5.64	1.65	0.23941	Marvel (1);	15.836100	0.00357	N	0.000025	T	0.38108	0.1028	M	0.68317	2.08	0.09310	N	1	D	0.62365	0.991	B	0.44315	0.446	T	0.25328	-1.0135	10	0.46703	T	0.11	-0.2134	7.5265	0.27658	0.4497:0.4699:0.0:0.0804	.	136	Q04941	PLP2_HUMAN	W	136	ENSP00000365505:R136W	ENSP00000365505:R136W	R	+	1	2	PLP2	48917686	0.001000	0.12720	0.070000	0.20053	0.432000	0.31715	-0.187000	0.09656	-0.112000	0.11979	0.513000	0.50165	CGG	PLP2	-	NULL		0.557	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP2	HGNC	protein_coding	OTTHUMT00000056540.1	C	NM_002668		49030742	1	no_errors	ENST00000376327	ensembl	human	known	70_37	missense	SNP	0.024	T	T	49030742	C	T	49030742	3	4	185	1	0	0	0	0	1	0	0	0	12129	875	31	1	420	1	PLP2	23	49030742	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	356167	49030742	106239818	1614	35889										
CACNA1F	778	genome.wustl.edu	37	chrX	49063285	49063285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caaaaggactgagcacggggGagtccctgcctgctcatcta	12	12	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:49063285G>A	ENST00000376265.2	-	45	5357	c.5296C>T	c.(5296-5298)Ccc>Tcc	p.P1766S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1755S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1701S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1766					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCACGGGGGAGTCCCTGCC	0.642																																																	0													56	54	55					X																	49063285		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5296C>T	X.37:g.49063285G>A	ENSP00000365441:p.Pro1766Ser		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.P1766S	ENST00000376265.2	37	c.5296	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	6.439	0.449138	0.12223	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.88;-3.88	5.6	0.574	0.17368	.	1.361170	0.04625	N	0.402647	D	0.92351	0.7573	L	0.47716	1.5	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.12156	0.003;0.007	T	0.79478	-0.1787	10	0.08179	T	0.78	.	4.3257	0.11039	0.0756:0.1259:0.4024:0.3961	.	1755;1766	F5CIQ9;O60840	.;CAC1F_HUMAN	S	1701;1755;1766	ENSP00000365427:P1701S;ENSP00000321618:P1755S;ENSP00000365441:P1766S	ENSP00000321618:P1755S	P	-	1	0	CACNA1F	48950229	0.708000	0.27876	0.000000	0.03702	0.031000	0.12232	1.202000	0.32271	-0.343000	0.08351	-0.351000	0.07748	CCC	CACNA1F	-	NULL		0.642	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49063285	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	0.000	A	A	49063285	G	A	49063285	3	1	185	1	0	0	0	0	1	0	0	0	2548	1174	41	1	653	1	CACNA1F	23	49063285	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	32543	49063285	106207275	1615	35890										
DGKK	139189	genome.wustl.edu	37	chrX	50127785	50127785	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagaaagttgaactaaagttCttaacagatattgtctgtct	7	5	3	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:50127785C>G	ENST00000376025.2	-	0	2444							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			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)					AACTAAAGTTCTTAACAGATA	0.428																																																	0													138	127	131					X																	50127785		1865	4090	5955			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50127785C>G			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.428	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50127785	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.987	G	G	50127785	C	G	50127785	1	3	185	0	1	0	0	0	0	0	0	0	4482	912	32	1		1	DGKK	23	50127785	RNA	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1064500	50127785	105142775	1616	35891										
NUDT10	170685	genome.wustl.edu	37	chrX	51076121	51076121	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgtatgtactgactgtcacgGagctgctggaggattgggaa	15	6	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:51076121G>T	ENST00000376006.3	+	2	524	c.304G>T	c.(304-306)Gag>Tag	p.E102*	NUDT10_ENST00000356450.2_Nonsense_Mutation_p.E102*	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GACTGTCACGGAGCTGCTGGA	0.557																																					NSCLC(90;1817 2035 37909 38249)												0													71	66	67					X																	51076121		2203	4300	6503	SO:0001587	stop_gained	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.304G>T	X.37:g.51076121G>T	ENSP00000365174:p.Glu102*		Q8NBN1|Q8NCB9|Q8NG25	Nonsense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E102*	ENST00000376006.3	37	c.304	CCDS35278.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.903298	0.97087	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	.	.	.	3.14	2.26	0.28386	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-2.7732	7.3002	0.26415	0.1467:0.0:0.8533:0.0	.	.	.	.	X	102	.	ENSP00000348831:E102X	E	+	1	0	NUDT10	51092861	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.047000	0.76599	1.602000	0.50124	0.429000	0.28392	GAG	NUDT10	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.557	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	HGNC	protein_coding	OTTHUMT00000056578.1	G	NM_153183		51076121	1	no_errors	ENST00000356450	ensembl	human	known	70_37	nonsense	SNP	0.968	T	T	51076121	G	T	51076121	4	4	185	1	0	0	0	0	0	1	0	0	10750	1175	41	3	306	3	NUDT10	23	51076121	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	948336	51076121	104194439	1617	35892										
WNK3	65267	genome.wustl.edu	37	chrX	54337697	54337697	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tgcttcttccttgaatctttGctgctcagctttggttaact	7	10	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:54337697G>A	ENST00000375159.2	-	2	564	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	WNK3_ENST00000375169.3_Nonsense_Mutation_p.Q189*|WNK3_ENST00000354646.2_Nonsense_Mutation_p.Q189*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTGAATCTTTGCTGCTCAGCT	0.368																																																	0													103	92	96					X																	54337697		2203	4300	6503	SO:0001587	stop_gained	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.565C>T	X.37:g.54337697G>A	ENSP00000364301:p.Gln189*		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q189*	ENST00000375159.2	37	c.565	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.455167	0.97581	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.398	17.1065	0.86665	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000346667:Q189X	Q	-	1	0	WNK3	54354422	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.756000	0.98918	2.391000	0.81399	0.594000	0.82650	CAA	WNK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.368	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	G	NM_020922		54337697	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	54337697	G	A	54337697	4	1	185	1	0	0	0	0	0	1	0	0	17410	1328	46	4	4925	4	WNK3	23	54337697	Nonsense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	3261576	54337697	100932863	1618	35893										
ITIH5L	347365	genome.wustl.edu	37	chrX	54784055	54784055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggtgtgtagtgggtacttggGaacctgaagtgtagagactc	16	5	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:54784055G>A	ENST00000218436.6	-	8	2481	c.2452C>T	c.(2452-2454)Ccc>Tcc	p.P818S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	818	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGGTACTTGGGAACCTGAAGT	0.562																																																	0													130	117	122					X																	54784055		2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2452C>T	X.37:g.54784055G>A	ENSP00000218436:p.Pro818Ser		A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.P818S	ENST00000218436.6	37	c.2452	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	G	3.134	-0.177870	0.06380	.	.	ENSG00000102313	ENST00000218436	T	0.02682	4.2	3.61	1.77	0.24775	.	1.572660	0.06398	U	0.718233	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.17098	0.017	T	0.48364	-0.9042	10	0.48119	T	0.1	.	5.9381	0.19177	0.3828:0.0:0.6172:0.0	.	818	Q6UXX5	ITH5L_HUMAN	S	818	ENSP00000218436:P818S	ENSP00000218436:P818S	P	-	1	0	ITIH5L	54800780	0.796000	0.28864	0.008000	0.14137	0.025000	0.11179	1.154000	0.31688	0.059000	0.16252	0.466000	0.42574	CCC	ITIH6	-	NULL		0.562	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	G	NM_198510		54784055	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	missense	SNP	0.016	A	A	54784055	G	A	54784055	3	1	185	1	0	0	0	0	1	0	0	0	7928	1174	41	1	1513	1	ITIH5L	23	54784055	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	446358	54784055	100486505	1619	35894										
FOXR2	139628	genome.wustl.edu	37	chrX	55650352	55650352	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggagacccagtcctgatggaGatggtcctccctgtgaaccc	12	13	0	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:55650352G>C	ENST00000339140.3	+	1	520	c.208G>C	c.(208-210)Gat>Cat	p.D70H		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	70					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCTGATGGAGATGGTCCTCC	0.547																																																	0													86	78	80					X																	55650352		2203	4300	6503	SO:0001583	missense	139628			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.208G>C	X.37:g.55650352G>C	ENSP00000427329:p.Asp70His			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.D70H	ENST00000339140.3	37	c.208	CCDS35308.1	X	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376100	0.42105	.	.	ENSG00000189299	ENST00000339140	D	0.94537	-3.45	3.56	3.56	0.40772	.	1.714390	0.04169	U	0.324378	D	0.96744	0.8937	M	0.67397	2.05	0.09310	N	0.999998	D	0.89917	1.0	D	0.70487	0.969	D	0.86805	0.1994	10	0.87932	D	0	.	9.7019	0.40192	0.0:0.0:1.0:0.0	.	70	Q6PJQ5	FOXR2_HUMAN	H	70	ENSP00000427329:D70H	ENSP00000427329:D70H	D	+	1	0	FOXR2	55667077	0.931000	0.31567	0.103000	0.21229	0.004000	0.04260	1.396000	0.34531	2.037000	0.60232	0.600000	0.82982	GAT	FOXR2	-	NULL		0.547	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR2	HGNC	protein_coding	OTTHUMT00000056877.2	G	NM_198451		55650352	1	no_errors	ENST00000339140	ensembl	human	known	70_37	missense	SNP	0.113	C	C	55650352	G	C	55650352	3	2	185	1	0	0	0	0	1	0	0	0	6050	942	33	1	210	1	FOXR2	23	55650352	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	866297	55650352	99620208	1620	35895										
FAM123B	139285	genome.wustl.edu	37	chrX	63410667	63410667	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcttccaaggaggctgcaaGatcttcatcattgtggaact	11	9	3	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:63410667G>T	ENST00000330258.3	-	2	2772	c.2500C>A	c.(2500-2502)Ctt>Att	p.L834I	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	834					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GAGGCTGCAAGATCTTCATCA	0.522																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											39	40	40					X																	63410667		2190	4282	6472	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2500C>A	X.37:g.63410667G>T	ENSP00000329117:p.Leu834Ile		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.L834I	ENST00000330258.3	37	c.2500	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007700	0.35415	.	.	ENSG00000184675	ENST00000330258	T	0.47528	0.84	4.4	4.4	0.53042	.	.	.	.	.	T	0.26521	0.0648	N	0.14661	0.345	0.80722	D	1	P	0.43750	0.816	B	0.40741	0.339	T	0.02126	-1.1209	8	.	.	.	-8.9243	4.8243	0.13408	0.1087:0.0:0.6779:0.2134	.	834	Q5JTC6	F123B_HUMAN	I	834	ENSP00000329117:L834I	.	L	-	1	0	FAM123B	63327392	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.424000	0.34848	2.453000	0.82957	0.529000	0.55759	CTT	FAM123B	-	NULL		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	G	NM_152424		63410667	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	missense	SNP	0.991	T	T	63410667	G	T	63410667	3	4	185	1	0	0	0	0	1	0	0	0	5438	942	33	3	911	3	FAM123B	23	63410667	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	7760315	63410667	91859893	1621	35896										
MSN	4478	genome.wustl.edu	37	chrX	64949447	64949447	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagagggcattctcaatgatGatatttactgcccgcctgag	10	9	1	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:64949447G>A	ENST00000360270.5	+	4	512	c.340G>A	c.(340-342)Gat>Aat	p.D114N		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	114	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						TCTCAATGATGATATTTACTG	0.502			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													108	81	90					X																	64949447		2203	4300	6503	SO:0001583	missense	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.340G>A	X.37:g.64949447G>A	ENSP00000353408:p.Asp114Asn			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.D114N	ENST00000360270.5	37	c.340	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.505070	0.96371	.	.	ENSG00000147065	ENST00000360270	T	0.78126	-1.15	5.99	5.99	0.97316	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.042197	0.85682	D	0.000000	T	0.76271	0.3964	L	0.54323	1.7	0.80722	D	1	B	0.19200	0.034	B	0.22152	0.038	T	0.71248	-0.4649	10	0.48119	T	0.1	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	114	P26038	MOES_HUMAN	N	114	ENSP00000353408:D114N	ENSP00000353408:D114N	D	+	1	0	MSN	64866172	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.760000	0.98935	2.536000	0.85505	0.600000	0.82982	GAT	MSN	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain		0.502	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	G	NM_002444		64949447	1	no_errors	ENST00000360270	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64949447	G	A	64949447	3	1	185	1	0	0	0	0	1	0	0	0	9908	1290	45	1	354	1	MSN	23	64949447	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1538780	64949447	90321113	1622	35897										
AR	367	genome.wustl.edu	37	chrX	66905906	66905906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgcactattgataaattccGaaggaaaaattgtccatctt	6	7	1	1	rs137852573		TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:66905906G>A	ENST00000374690.3	+	3	2347	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	AR_ENST00000396043.2_Missense_Mutation_p.R76Q|AR_ENST00000396044.3_Missense_Mutation_p.R608Q|AR_ENST00000504326.1_Missense_Mutation_p.R608Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	607	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.		R -> K (in PAIS and breast cancer; defective nuclear localization). {ECO:0000269|PubMed:1424203, ECO:0000269|PubMed:8281139, ECO:0000269|PubMed:9196614}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GATAAATTCCGAAGGAAAAAT	0.423									Androgen Insensitivity Syndrome																																								0			GRCh37	CM920073	AR	M	rs137852573						127	108	114					X																	66905906		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1823G>A	X.37:g.66905906G>A	ENSP00000363822:p.Arg608Gln		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.R608Q	ENST00000374690.3	37	c.1823	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.375561	0.95923	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.28	5.28	0.74379	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	L	0.45352	1.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;0.998	D	0.98231	1.0483	10	0.87932	D	0	.	15.0966	0.72238	0.0:0.0:1.0:0.0	.	608;608;76;607	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	Q	418;608;608;608;76	ENSP00000363822:R608Q;ENSP00000421155:R608Q;ENSP00000379359:R608Q;ENSP00000379358:R76Q	ENSP00000363822:R608Q	R	+	2	0	AR	66822631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.054000	0.93866	2.447000	0.82792	0.523000	0.50628	CGA	AR	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.423	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66905906	1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66905906	G	A	66905906	3	1	185	1	0	0	0	0	1	0	0	0	836	1058	37	1	1857	1	AR	23	66905906	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1956459	66905906	88364654	1623	35898										
EFNB1	1947	genome.wustl.edu	37	chrX	68059873	68059873	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaggcagacaacactgtcaaGatggccacacaggcccctgg	12	13	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:68059873G>A	ENST00000204961.4	+	4	1350	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	190					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						ACACTGTCAAGATGGCCACAC	0.567																																																	0													60	55	57					X																	68059873		2203	4299	6502	SO:0001819	synonymous_variant	1947			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.570G>A	X.37:g.68059873G>A			D3DVU0	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.K190	ENST00000204961.4	37	c.570	CCDS14391.1	X																																																																																			EFNB1	-	NULL		0.567	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB1	HGNC	protein_coding	OTTHUMT00000057029.1	G	NM_004429		68059873	1	no_errors	ENST00000204961	ensembl	human	known	70_37	silent	SNP	0.270	A	A	68059873	G	A	68059873	2	1	185	1	0	0	0	0	0	0	0	1	4965	933	33	1		1	EFNB1	23	68059873	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1153967	68059873	87210687	1624	35899										
ZMYM3	9203	genome.wustl.edu	37	chrX	70469443	70469443	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tggtcacaacagttggttttCagtcccttgttggcccggaa	11	10	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:70469443C>G	ENST00000353904.2	-	7	1525	c.1338G>C	c.(1336-1338)ctG>ctC	p.L446L	ZMYM3_ENST00000373978.1_Nonstop_Mutation_p.*350S|ZMYM3_ENST00000373984.3_Silent_p.L448L|ZMYM3_ENST00000373981.1_Silent_p.L446L|ZMYM3_ENST00000373998.1_Silent_p.L446L|ZMYM3_ENST00000373982.1_Silent_p.L448L|ZMYM3_ENST00000373988.1_Silent_p.L448L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.L446L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	446					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGTTGGTTTTCAGTCCCTTGT	0.562																																																	0													149	95	113					X																	70469443		2203	4300	6503	SO:0001819	synonymous_variant	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1338G>C	X.37:g.70469443C>G			D3DVV3|O15089|Q96E26	Nonstop_Mutation	SNP	NULL	p.*350S	ENST00000353904.2	37	c.1049	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	c	9.719	1.159214	0.21454	.	.	ENSG00000147130	ENST00000373978	.	.	.	4.43	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5573	7.2138	0.25949	0.0:0.6781:0.0:0.3219	.	.	.	.	S	350	.	.	X	-	2	2	ZMYM3	70386168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.759000	0.26461	0.807000	0.34208	0.464000	0.42555	TGA	ZMYM3	-	NULL		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	C	NM_201599		70469443	-1	no_errors	ENST00000373978	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	70469443	C	G	70469443	2	3	185	1	0	0	0	0	0	0	0	1	17731	813	29	1		1	ZMYM3	23	70469443	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	2409570	70469443	84801117	1625	35900										
RPS6KA6	27330	genome.wustl.edu	37	chrX	83351282	83351282	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tatacgcagcagtatctcttCaggagtatcattggggccat	10	9	3	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:83351282C>G	ENST00000262752.2	-	20	1898	c.1891G>C	c.(1891-1893)Gaa>Caa	p.E631Q	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E631Q	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	631	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTATCTCTTCAGGAGTATCA	0.358																																																	0													75	63	67					X																	83351282		2203	4300	6503	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1891G>C	X.37:g.83351282C>G	ENSP00000262752:p.Glu631Gln		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.E631Q	ENST00000262752.2	37	c.1891	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911776	0.52439	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.65178	-0.14;-0.14	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100528	0.64402	D	0.000003	T	0.46112	0.1376	N	0.12746	0.255	0.80722	D	1	B;B	0.33512	0.24;0.415	B;B	0.31495	0.082;0.131	T	0.49184	-0.8966	10	0.41790	T	0.15	.	17.6401	0.88133	0.0:1.0:0.0:0.0	.	631;631	B7ZL90;Q9UK32	.;KS6A6_HUMAN	Q	631	ENSP00000262752:E631Q;ENSP00000440830:E631Q	ENSP00000262752:E631Q	E	-	1	0	RPS6KA6	83237938	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.826000	0.69293	2.182000	0.69389	0.544000	0.68410	GAA	RPS6KA6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	C	NM_014496		83351282	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	G	G	83351282	C	G	83351282	3	3	185	1	0	0	0	0	1	0	0	0	13685	835	29	1	358	1	RPS6KA6	23	83351282	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	12881839	83351282	71919278	1626	35901										
FAM199X	139231	genome.wustl.edu	37	chrX	103434445	103434445	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagaccatgaagcagatgttGatgttttgatgtaataaggg	12	3	0	5			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:103434445G>C	ENST00000493442.1	+	6	1319	c.1153G>C	c.(1153-1155)Gat>Cat	p.D385H	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	385										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGCAGATGTTGATGTTTTGAT	0.438																																																	0													142	118	126					X																	103434445		2203	4300	6503	SO:0001583	missense	139231			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.1153G>C	X.37:g.103434445G>C	ENSP00000417581:p.Asp385His		Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.D385H	ENST00000493442.1	37	c.1153	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966795	0.74131	.	.	ENSG00000123575	ENST00000493442	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75575	-0.3270	8	.	.	.	-7.6998	16.8393	0.85964	0.0:0.0:1.0:0.0	.	342;385	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	H	385	.	.	D	+	1	0	FAM199X	103321101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.269000	0.75478	0.594000	0.82650	GAT	FAM199X	-	NULL		0.438	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1	G	NM_207318		103434445	1	no_errors	ENST00000493442	ensembl	human	known	70_37	missense	SNP	1.000	C	C	103434445	G	C	103434445	3	2	185	1	0	0	0	0	1	0	0	0	5545	1290	45	1	1175	1	FAM199X	23	103434445	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	20083163	103434445	51836115	1627	35902										
IL1RAPL2	26280	genome.wustl.edu	37	chrX	104512091	104512091	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaatgcaagccaaaaatgtgGagaagcataataatacagaa	9	5	0	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:104512091G>C	ENST00000372582.1	+	5	1320	c.564G>C	c.(562-564)tgG>tgC	p.W188C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.W188C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	188	Ig-like C2-type 2.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAAAAATGTGGAGAAGCATAA	0.333																																																	0													87	81	83					X																	104512091		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.564G>C	X.37:g.104512091G>C	ENSP00000361663:p.Trp188Cys		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.W188C	ENST00000372582.1	37	c.564	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582086	0.65992	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.77098	-1.07;-1.07	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000019	D	0.88596	0.6479	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88852	0.3320	10	0.48119	T	0.1	.	17.4286	0.87533	0.0:0.0:1.0:0.0	.	188	Q9NP60	IRPL2_HUMAN	C	188	ENSP00000361663:W188C;ENSP00000344976:W188C	ENSP00000344976:W188C	W	+	3	0	IL1RAPL2	104398747	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.210000	0.89753	2.330000	0.79161	0.513000	0.50165	TGG	IL1RAPL2	-	smart_Ig_sub,pfscan_Ig-like		0.333	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	G	NM_017416		104512091	1	no_errors	ENST00000344799	ensembl	human	known	70_37	missense	SNP	1.000	C	C	104512091	G	C	104512091	3	2	185	1	0	0	0	0	1	0	0	0	7682	1183	41	1	578	1	IL1RAPL2	23	104512091	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1077646	104512091	50758469	1628	35903										
CLDN2	9075	genome.wustl.edu	37	chrX	106171611	106171611	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ggcttctccaagggcctctgGatggaatgtgccacacacag	12	12	2	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:106171611G>C	ENST00000541806.1	+	2	672	c.153G>C	c.(151-153)tgG>tgC	p.W51C	CLDN2_ENST00000336803.1_Missense_Mutation_p.W51C|CLDN2_ENST00000540876.1_Missense_Mutation_p.W51C	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	51					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AGGGCCTCTGGATGGAATGTG	0.567																																																	0													111	92	98					X																	106171611		2203	4300	6503	SO:0001583	missense	9075			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.153G>C	X.37:g.106171611G>C	ENSP00000441283:p.Trp51Cys		B2R6B9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.W51C	ENST00000541806.1	37	c.153	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418670	0.62622	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.98493	-4.96;-4.96;-4.96	5.6	5.6	0.85130	Claudin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99081	1.0837	10	0.87932	D	0	.	15.8564	0.78979	0.0:0.0:1.0:0.0	.	51	P57739	CLD2_HUMAN	C	51	ENSP00000441283:W51C;ENSP00000443230:W51C;ENSP00000336571:W51C	ENSP00000336571:W51C	W	+	3	0	CLDN2	106058267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.343000	0.79666	0.594000	0.82650	TGG	CLDN2	-	pfam_PMP22/EMP/MP20/Claudin		0.567	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	HGNC	protein_coding	OTTHUMT00000057815.1	G			106171611	1	no_errors	ENST00000336803	ensembl	human	known	70_37	missense	SNP	1.000	C	C	106171611	G	C	106171611	3	2	185	1	0	0	0	0	1	0	0	0	3486	1183	41	1	155	1	CLDN2	23	106171611	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1659520	106171611	49098949	1629	35904										
VSIG1	340547	genome.wustl.edu	37	chrX	107304672	107304672	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	acacagcacagctcgtgcctCagtactgagggtatggagga	13	10	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:107304672C>T	ENST00000217957.5	+	2	330				VSIG1_ENST00000415430.3_Silent_p.L76L	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCTCGTGCCTCAGTACTGAGG	0.493																																																	0													88	73	77					X																	107304672		692	1591	2283	SO:0001627	intron_variant	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.213+3241C>T	X.37:g.107304672C>T			C9J4P2|Q6MZS4	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L76	ENST00000217957.5	37	c.228	CCDS14535.1	X																																																																																			VSIG1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.493	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	C	NM_182607		107304672	1	no_errors	ENST00000415430	ensembl	human	known	70_37	silent	SNP	0.997	T	T	107304672	C	T	107304672	1	4	185	0	1	0	0	0	0	0	0	0	17253	813	29	1		1	VSIG1	23	107304672	Intron	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	1133061	107304672	47965888	1630	35905										
ACSL4	2182	genome.wustl.edu	37	chrX	108887380	108887380	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccatggctctgggcttaatcGaaccttgattggaatttcaa	9	9	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:108887380G>C	ENST00000469796.2	-	16	2410	c.2014C>G	c.(2014-2016)Cga>Gga	p.R672G	ACSL4_ENST00000340800.2_Missense_Mutation_p.R672G|ACSL4_ENST00000348502.6_Missense_Mutation_p.R631G			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	672					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GGGCTTAATCGAACCTTGATT	0.448																																					Pancreas(188;358 2127 38547 41466 45492)												0													96	83	88					X																	108887380		2203	4300	6503	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.2014C>G	X.37:g.108887380G>C	ENSP00000419171:p.Arg672Gly		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R672G	ENST00000469796.2	37	c.2014	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921747	0.52653	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.11495	2.77;2.77;2.77	5.49	1.79	0.24919	.	0.173521	0.52532	D	0.000076	T	0.17238	0.0414	M	0.83953	2.67	0.37655	D	0.922545	P	0.43287	0.802	B	0.43052	0.406	T	0.07233	-1.0783	10	0.35671	T	0.21	-0.0456	9.795	0.40728	0.2854:0.0:0.7146:0.0	.	672	O60488	ACSL4_HUMAN	G	631;672;672	ENSP00000262835:R631G;ENSP00000419171:R672G;ENSP00000339787:R672G	ENSP00000339787:R672G	R	-	1	2	ACSL4	108774036	1.000000	0.71417	0.536000	0.28039	0.945000	0.59286	4.458000	0.60095	-0.006000	0.14370	0.600000	0.82982	CGA	ACSL4	-	NULL		0.448	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	G	NM_004458		108887380	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	missense	SNP	0.994	C	C	108887380	G	C	108887380	3	2	185	1	0	0	0	0	1	0	0	0	179	1066	37	1	125	1	ACSL4	23	108887380	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1582708	108887380	46383180	1631	35906										
RGAG1	57529	genome.wustl.edu	37	chrX	109696910	109696910	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cacagcgccaattagagcctCtgcttctggagcaaggtcca	10	13	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:109696910C>T	ENST00000465301.2	+	3	3311	c.3065C>T	c.(3064-3066)tCt>tTt	p.S1022F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S1022F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1022										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATTAGAGCCTCTGCTTCTGGA	0.502																																																	0													179	157	164					X																	109696910		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3065C>T	X.37:g.109696910C>T	ENSP00000419786:p.Ser1022Phe		Q9P2M8	Missense_Mutation	SNP	NULL	p.S1022F	ENST00000465301.2	37	c.3065	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691619	0.15039	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.54479	0.57;0.57	3.44	2.52	0.30459	.	0.967079	0.08380	N	0.954680	T	0.50871	0.1641	L	0.46157	1.445	0.09310	N	1	P	0.49090	0.919	P	0.49421	0.61	T	0.36383	-0.9750	9	.	.	.	-1.0885	4.5284	0.11992	0.0:0.6676:0.0:0.3324	.	1022	Q8NET4	RGAG1_HUMAN	F	1022;1022;583	ENSP00000419786:S1022F;ENSP00000441452:S1022F	.	S	+	2	0	RGAG1	109583566	0.643000	0.27269	0.014000	0.15608	0.019000	0.09904	2.005000	0.40864	0.754000	0.32968	0.600000	0.82982	TCT	RGAG1	-	NULL		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109696910	1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.086	T	T	109696910	C	T	109696910	3	4	185	1	0	0	0	0	1	0	0	0	13304	913	32	1	3067	1	RGAG1	23	109696910	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	809530	109696910	45573650	1632	35907										
AMOT	154796	genome.wustl.edu	37	chrX	112054493	112054493	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcacctctcagatccctgttGaaatcatgcatcctccgaat	5	14	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:112054493G>C	ENST00000524145.1	-	4	1595	c.1521C>G	c.(1519-1521)ttC>ttG	p.F507L	AMOT_ENST00000371962.1_Missense_Mutation_p.F275L|AMOT_ENST00000304758.1_Missense_Mutation_p.F98L|AMOT_ENST00000371959.3_Missense_Mutation_p.F507L|AMOT_ENST00000371958.1_Missense_Mutation_p.F275L			Q4VCS5	AMOT_HUMAN	angiomotin	507					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GATCCCTGTTGAAATCATGCA	0.507																																																	0													252	212	226					X																	112054493		2203	4300	6503	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1521C>G	X.37:g.112054493G>C	ENSP00000429013:p.Phe507Leu		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.F507L	ENST00000524145.1	37	c.1521	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515306	0.44763	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	6.08	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.58354	1.805	0.48975	D	0.999737	D	0.69078	0.997	D	0.75020	0.985	T	0.37572	-0.9700	10	0.06365	T	0.9	-14.3566	8.6425	0.33985	0.3058:0.0:0.6942:0.0	.	507	Q4VCS5	AMOT_HUMAN	L	98;507;275;507;275	ENSP00000305557:F98L;ENSP00000361027:F507L;ENSP00000361030:F275L;ENSP00000429013:F507L;ENSP00000361026:F275L	ENSP00000305557:F98L	F	-	3	2	AMOT	111941149	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.728000	0.62000	0.681000	0.31386	0.600000	0.82982	TTC	AMOT	-	superfamily_Prefoldin,prints_Angiomotin		0.507	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	G	NM_133265		112054493	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	missense	SNP	1.000	C	C	112054493	G	C	112054493	3	2	185	1	0	0	0	0	1	0	0	0	582	1281	45	1	1769	1	AMOT	23	112054493	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2357583	112054493	43216067	1633	35908										
LRCH2	57631	genome.wustl.edu	37	chrX	114357165	114357165	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cattttgccatgctcagtttGggctgtaaagtaagagggaa	12	6	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:114357165G>C	ENST00000317135.8	-	20	2133	c.2103C>G	c.(2101-2103)ccC>ccG	p.P701P	LRCH2_ENST00000538422.1_Silent_p.P684P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	701	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TGCTCAGTTTGGGCTGTAAAG	0.318																																																	0													84	70	74					X																	114357165		1808	4077	5885	SO:0001819	synonymous_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2103C>G	X.37:g.114357165G>C			F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P701	ENST00000317135.8	37	c.2103	CCDS48155.1	X																																																																																			LRCH2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.318	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	G	NM_020871		114357165	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	silent	SNP	1.000	C	C	114357165	G	C	114357165	2	2	185	1	0	0	0	0	0	0	0	1	8956	1335	47	4		4	LRCH2	23	114357165	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2302672	114357165	40913395	1634	35909										
PLS3	5358	genome.wustl.edu	37	chrX	114868346	114868346	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tttcagttcctgataccattGatgaaagagcaatcaacaag	7	8	2	4			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:114868346G>C	ENST00000420625.2	+	6	669	c.535G>C	c.(535-537)Gat>Cat	p.D179H	PLS3_ENST00000355899.3_Missense_Mutation_p.D179H|PLS3_ENST00000537301.1_Missense_Mutation_p.D157H|PLS3_ENST00000289290.3_Missense_Mutation_p.D134H|PLS3_ENST00000539310.1_Missense_Mutation_p.D134H	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	179	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TGATACCATTGATGAAAGAGC	0.338																																					Colon(160;1047 1864 8490 12969 29601)												0													207	178	188					X																	114868346		2203	4300	6503	SO:0001583	missense	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.535G>C	X.37:g.114868346G>C	ENSP00000398945:p.Asp179His		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.D179H	ENST00000420625.2	37	c.535	CCDS14568.1	X	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886822	0.91814	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	5.45	5.45	0.79879	Calponin homology domain (5);	0.043669	0.85682	D	0.000000	D	0.98598	0.9531	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;0.986;0.971	D;P;P	0.78314	0.991;0.877;0.877	D	0.99787	1.1030	10	0.87932	D	0	-11.4739	16.7885	0.85580	0.0:0.0:1.0:0.0	.	152;157;179	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	H	179;157;134;179;134	ENSP00000348163:D179H;ENSP00000445105:D157H;ENSP00000289290:D134H;ENSP00000398945:D179H;ENSP00000445339:D134H	ENSP00000289290:D134H	D	+	1	0	PLS3	114774602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.274000	0.75844	0.594000	0.82650	GAT	PLS3	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.338	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	HGNC	protein_coding	OTTHUMT00000057976.2	G			114868346	1	no_errors	ENST00000355899	ensembl	human	known	70_37	missense	SNP	1.000	C	C	114868346	G	C	114868346	3	2	185	1	0	0	0	0	1	0	0	0	12132	1290	45	1	553	1	PLS3	23	114868346	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	511181	114868346	40402214	1635	35910										
WDR44	54521	genome.wustl.edu	37	chrX	117528026	117528026	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttatcattgcagttcccaaaGagaatattacgtctgattct	6	8	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:117528026G>C	ENST00000254029.3	+	5	1230	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	WDR44_ENST00000371825.3_Missense_Mutation_p.E279Q|WDR44_ENST00000371822.5_Missense_Mutation_p.E254Q	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	279						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGTTCCCAAAGAGAATATTAC	0.393																																																	0													92	82	85					X																	117528026		2203	4300	6503	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.835G>C	X.37:g.117528026G>C	ENSP00000254029:p.Glu279Gln		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E279Q	ENST00000254029.3	37	c.835	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.968626|3.968626	0.74131|0.74131	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.73897|.	-0.79;-0.19;-0.07|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.361255|.	0.31257|.	N|.	0.007964|.	T|T	0.53318|0.53318	0.1789|0.1789	N|N	0.19112|0.19112	0.55|0.55	0.44539|0.44539	D|D	0.997497|0.997497	B;P;P|.	0.40578|.	0.097;0.515;0.722|.	B;B;B|.	0.39876|.	0.079;0.23;0.312|.	T|T	0.49588|0.49588	-0.8924|-0.8924	10|5	0.42905|.	T|.	0.14|.	-13.8677|-13.8677	18.2594|18.2594	0.90030|0.90030	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	254;279;279|.	F8W913;Q5JSH3-2;Q5JSH3|.	.;.;WDR44_HUMAN|.	Q|T	254;279;279|178	ENSP00000360887:E254Q;ENSP00000254029:E279Q;ENSP00000360890:E279Q|.	ENSP00000254029:E279Q|.	E|R	+|+	1|2	0|0	WDR44|WDR44	117412054|117412054	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	7.141000|7.141000	0.77330|0.77330	2.250000|2.250000	0.74265|0.74265	0.600000|0.600000	0.82982|0.82982	GAG|AGA	WDR44	-	NULL		0.393	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	G	NM_019045		117528026	1	no_errors	ENST00000254029	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117528026	G	C	117528026	3	2	185	1	0	0	0	0	1	0	0	0	17327	943	33	1	853	1	WDR44	23	117528026	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	2659680	117528026	37742534	1636	35911										
WDR44	54521	genome.wustl.edu	37	chrX	117532408	117532408	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	agtctcagccaacagatactGatggtggaaggttaaaacag	11	7	1	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:117532408G>A	ENST00000254029.3	+	8	1644	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	WDR44_ENST00000371825.3_Missense_Mutation_p.D417N|WDR44_ENST00000371822.5_Missense_Mutation_p.D392N	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	417						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AACAGATACTGATGGTGGAAG	0.348																																																	0													145	125	132					X																	117532408		2203	4300	6503	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1249G>A	X.37:g.117532408G>A	ENSP00000254029:p.Asp417Asn		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D417N	ENST00000254029.3	37	c.1249	CCDS14572.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.472614	0.96274	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.75477	-0.94;-0.34;-0.21	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.76494	0.998;0.986;0.999;0.996	D;P;D;D	0.71184	0.962;0.835;0.972;0.954	T	0.83188	-0.0085	10	0.72032	D	0.01	-16.7344	18.0906	0.89474	0.0:0.0:1.0:0.0	.	392;417;417;417	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.;.;.;WDR44_HUMAN	N	392;417;417	ENSP00000360887:D392N;ENSP00000254029:D417N;ENSP00000360890:D417N	ENSP00000254029:D417N	D	+	1	0	WDR44	117416436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.569000	0.98170	2.495000	0.84180	0.600000	0.82982	GAT	WDR44	-	NULL		0.348	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	G	NM_019045		117532408	1	no_errors	ENST00000254029	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117532408	G	A	117532408	3	1	185	1	0	0	0	0	1	0	0	0	17327	1290	45	1	1279	1	WDR44	23	117532408	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	4382	117532408	37738152	1637	35912										
DOCK11	139818	genome.wustl.edu	37	chrX	117817118	117817118	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aagatcaagttgagtaccatGaagggctaaagtcaaatttc	9	6	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:117817118G>C	ENST00000276202.7	+	52	6103	c.6040G>C	c.(6040-6042)Gaa>Caa	p.E2014Q	DOCK11_ENST00000276204.6_Missense_Mutation_p.E2014Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2014	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGAGTACCATGAAGGGCTAAA	0.353																																																	0													107	102	104					X																	117817118		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6040G>C	X.37:g.117817118G>C	ENSP00000276202:p.Glu2014Gln		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E2014Q	ENST00000276202.7	37	c.6040	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758323	0.89843	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18657	2.2;2.2	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.64170	1.965	0.58432	D	0.999999	D;D	0.57571	0.98;0.98	D;D	0.63793	0.918;0.918	T	0.08743	-1.0707	10	0.40728	T	0.16	-7.5977	18.136	0.89619	0.0:0.0:1.0:0.0	.	2014;2014	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	2014	ENSP00000276204:E2014Q;ENSP00000276202:E2014Q	ENSP00000276202:E2014Q	E	+	1	0	DOCK11	117701146	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.377000	0.97184	2.506000	0.84524	0.600000	0.82982	GAA	DOCK11	-	pfam_DOCK_C		0.353	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G	NM_144658		117817118	1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	C	C	117817118	G	C	117817118	3	2	185	1	0	0	0	0	1	0	0	0	4696	1291	45	1	6246	1	DOCK11	23	117817118	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	284710	117817118	37453442	1638	35913										
IL13RA1	3597	genome.wustl.edu	37	chrX	117925733	117925733	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	cctcccttctagcactggaaGaagtacgacatctatgagaa	8	11	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:117925733G>A	ENST00000371666.3	+	11	1267	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	IL13RA1_ENST00000371637.3_Silent_p.K199K	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	400					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGCACTGGAAGAAGTACGACA	0.388																																																	0													179	153	162					X																	117925733		2203	4300	6503	SO:0001819	synonymous_variant	3597			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1200G>A	X.37:g.117925733G>A			O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.K400	ENST00000371666.3	37	c.1200	CCDS14573.1	X																																																																																			IL13RA1	-	NULL		0.388	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	HGNC	protein_coding	OTTHUMT00000058009.1	G	NM_001560		117925733	1	no_errors	ENST00000371666	ensembl	human	known	70_37	silent	SNP	1.000	A	A	117925733	G	A	117925733	2	1	185	1	0	0	0	0	0	0	0	1	7649	933	33	1		1	IL13RA1	23	117925733	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	108615	117925733	37344827	1639	35914										
AIFM1	9131	genome.wustl.edu	37	chrX	129281546	129281546	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ctgaaaaccacagttcttttGaaagaggaggtcgcatgtac	10	8	1	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:129281546G>A	ENST00000287295.3	-	5	757	c.527C>T	c.(526-528)tCa>tTa	p.S176L	AIFM1_ENST00000319908.3_Missense_Mutation_p.S172L|AIFM1_ENST00000535724.1_Missense_Mutation_p.S89L|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	176	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CAGTTCTTTTGAAAGAGGAGG	0.408																																																	0													130	112	118					X																	129281546		2203	4300	6503	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.527C>T	X.37:g.129281546G>A	ENSP00000287295:p.Ser176Leu		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase	p.S176L	ENST00000287295.3	37	c.527	CCDS14618.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.235366	0.95207	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.44482	0.92;0.92;0.92	5.02	5.02	0.67125	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84175	0.0436	10	0.87932	D	0	-7.3508	17.501	0.87732	0.0:0.0:1.0:0.0	.	176;172;176	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	L	172;89;176	ENSP00000315122:S172L;ENSP00000446113:S89L;ENSP00000287295:S176L	ENSP00000287295:S176L	S	-	2	0	AIFM1	129109227	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.217000	0.95160	2.317000	0.78254	0.544000	0.68410	TCA	AIFM1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.408	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM1	HGNC	protein_coding	OTTHUMT00000058247.2	G			129281546	-1	no_errors	ENST00000287295	ensembl	human	known	70_37	missense	SNP	1.000	A	A	129281546	G	A	129281546	3	1	185	1	0	0	0	0	1	0	0	0	426	1294	45	1	1374	1	AIFM1	23	129281546	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	11355813	129281546	25989014	1640	35915										
ARHGAP36	158763	genome.wustl.edu	37	chrX	130220320	130220320	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	caggtgcctccccatattcaGaggcaggttgctaagcgcgt	12	12	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:130220320G>A	ENST00000276211.5	+	10	1644	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	ARHGAP36_ENST00000370922.1_Silent_p.Q421Q|ARHGAP36_ENST00000370921.1_Silent_p.Q297Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	433					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCCATATTCAGAGGCAGGTTG	0.458																																																	0													97	89	92					X																	130220320		2203	4300	6503	SO:0001819	synonymous_variant	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1299G>A	X.37:g.130220320G>A			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q433	ENST00000276211.5	37	c.1299	CCDS14628.1	X																																																																																			ARHGAP36	-	NULL		0.458	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	G	NM_144967		130220320	1	no_errors	ENST00000276211	ensembl	human	known	70_37	silent	SNP	1.000	A	A	130220320	G	A	130220320	2	1	185	1	0	0	0	0	0	0	0	1	883	933	33	1		1	ARHGAP36	23	130220320	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	938774	130220320	25050240	1641	35916										
RAP2C	57826	genome.wustl.edu	37	chrX	131351087	131351087	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ccttggccgtttttgatgtaGagatctctcatggaggcaaa	11	8	2	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:131351087G>C	ENST00000342983.2	-	2	956	c.210C>G	c.(208-210)ctC>ctG	p.L70L	RAP2C_ENST00000370874.1_Silent_p.L70L|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000460462.1_5'UTR|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	70					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TTTTGATGTAGAGATCTCTCA	0.458																																																	0													108	102	104					X																	131351087		2203	4300	6503	SO:0001819	synonymous_variant	57826			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.210C>G	X.37:g.131351087G>C			B3KWD6|Q5H9H9|Q9BTS0	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L70	ENST00000342983.2	37	c.210	CCDS14632.1	X																																																																																			RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.458	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	G	NM_021183		131351087	-1	no_errors	ENST00000342983	ensembl	human	known	70_37	silent	SNP	1.000	C	C	131351087	G	C	131351087	2	2	185	1	0	0	0	0	0	0	0	1	13072	929	33	1		1	RAP2C	23	131351087	Silent	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1130767	131351087	23919473	1642	35917										
MCF2	4168	genome.wustl.edu	37	chrX	138711977	138711977	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aacatctgagccatttctttCactgtgagggcaaaattttc	7	9	3	2			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:138711977C>T	ENST00000370576.4	-	4	524	c.315G>A	c.(313-315)gtG>gtA	p.V105V	MCF2_ENST00000414978.1_Silent_p.V165V|MCF2_ENST00000519895.1_Silent_p.V165V|MCF2_ENST00000520602.1_Silent_p.V165V|MCF2_ENST00000370573.4_Silent_p.V105V|MCF2_ENST00000370578.4_Silent_p.V250V|MCF2_ENST00000536274.1_Silent_p.V66V|MCF2_ENST00000338585.6_Silent_p.V105V	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	105					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCATTTCTTTCACTGTGAGGG	0.398																																																	0													158	155	156					X																	138711977		2203	4300	6503	SO:0001819	synonymous_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.315G>A	X.37:g.138711977C>T			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V250	ENST00000370576.4	37	c.750	CCDS14667.1	X																																																																																			MCF2	-	superfamily_CRAL-TRIO_dom		0.398	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	C	NM_005369		138711977	-1	no_errors	ENST00000370578	ensembl	human	known	70_37	silent	SNP	1.000	T	T	138711977	C	T	138711977	2	4	185	1	0	0	0	0	0	0	0	1	9401	813	29	1		1	MCF2	23	138711977	Silent	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	7360890	138711977	16558583	1643	35918										
MAMLD1	10046	genome.wustl.edu	37	chrX	149638143	149638143	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	ttgcaatgggcccaggtgctCatcctagtactgcttgtgca	11	11	1	0			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:149638143C>G	ENST00000370401.2	+	4	608	c.298C>G	c.(298-300)Cat>Gat	p.H100D	MAMLD1_ENST00000432680.2_Missense_Mutation_p.H75D|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000426613.2_Missense_Mutation_p.H75D|MAMLD1_ENST00000262858.5_Missense_Mutation_p.H100D			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	100					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGTGCTCATCCTAGTAC	0.517																																																	0													120	114	116					X																	149638143		2203	4300	6503	SO:0001583	missense	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.298C>G	X.37:g.149638143C>G	ENSP00000359428:p.His100Asp		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.H75D	ENST00000370401.2	37	c.223	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079715	0.20309	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.64438	0.31;-0.1;0.31;0.3	5.36	4.41	0.53225	.	0.145249	0.46758	D	0.000277	T	0.71829	0.3386	L	0.56769	1.78	0.33379	D	0.57457	P;D;D;D	0.67145	0.774;0.996;0.99;0.996	B;D;P;D	0.77557	0.365;0.99;0.808;0.99	T	0.74654	-0.3593	10	0.23302	T	0.38	-25.6676	11.6157	0.51088	0.3276:0.6724:0.0:0.0	.	62;75;75;100	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	D	62;100;75;100;100;75	ENSP00000359428:H100D;ENSP00000414517:H75D;ENSP00000262858:H100D;ENSP00000397438:H75D	ENSP00000262858:H100D	H	+	1	0	MAMLD1	149388801	0.955000	0.32602	0.163000	0.22734	0.010000	0.07245	1.583000	0.36579	2.237000	0.73441	0.600000	0.82982	CAT	MAMLD1	-	NULL		0.517	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	C	NM_005491		149638143	1	no_errors	ENST00000432680	ensembl	human	known	70_37	missense	SNP	0.460	G	G	149638143	C	G	149638143	3	3	185	1	0	0	0	0	1	0	0	0	9231	826	29	1	308	1	MAMLD1	23	149638143	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	10926166	149638143	5632417	1644	35919										
MTMR1	8776	genome.wustl.edu	37	chrX	149905769	149905769	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aatagaatctgggaaaacatCtgtggtggtgcattgcagcg	13	6	2	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:149905769C>T	ENST00000370390.3	+	11	1455	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	MTMR1_ENST00000544228.1_Missense_Mutation_p.S433F|MTMR1_ENST00000538506.1_Missense_Mutation_p.S258F|MTMR1_ENST00000451863.2_Missense_Mutation_p.S433F|MTMR1_ENST00000445323.2_Missense_Mutation_p.S441F|MTMR1_ENST00000541925.1_Missense_Mutation_p.S339F	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	433	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAAAACATCTGTGGTGGTG	0.443																																																	0													124	110	115					X																	149905769		2203	4300	6503	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1298C>T	X.37:g.149905769C>T	ENSP00000359417:p.Ser433Phe		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.S441F	ENST00000370390.3	37	c.1322	CCDS14695.1	X	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862799	0.71949	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	4.88	4.88	0.63580	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99870	1.1095	10	0.87932	D	0	.	17.332	0.87267	0.0:1.0:0.0:0.0	.	433;441	Q13613;F8WA39	MTMR1_HUMAN;.	F	339;433;441;433;433;258	ENSP00000441879:S339F;ENSP00000359417:S433F;ENSP00000414178:S441F;ENSP00000440534:S433F;ENSP00000387446:S433F;ENSP00000443444:S258F	ENSP00000359417:S433F	S	+	2	0	MTMR1	149656427	1.000000	0.71417	0.016000	0.15963	0.639000	0.38242	7.818000	0.86416	2.015000	0.59207	0.544000	0.68410	TCT	MTMR1	-	smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase		0.443	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR1	HGNC	protein_coding	OTTHUMT00000060863.2	C	NM_003828, NM_176789		149905769	1	no_errors	ENST00000445323	ensembl	human	known	70_37	missense	SNP	0.993	T	T	149905769	C	T	149905769	3	4	185	1	0	0	0	0	1	0	0	0	9961	913	32	1	1340	1	MTMR1	23	149905769	Missense_Mutation	SNP	C	TCGA-Q1-A73O-01A-11D-A32I-09	267626	149905769	5364791	1645	35920										
GABRQ	55879	genome.wustl.edu	37	chrX	151818219	151818219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	tcccagatggttacacggttGaagacatcatattattctgg	9	8	2	3			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:151818219G>A	ENST00000370306.2	+	6	645	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	209					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTACACGGTTGAAGACATCAT	0.443																																																	0													146	121	130					X																	151818219		2203	4300	6503	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.625G>A	X.37:g.151818219G>A	ENSP00000359329:p.Glu209Lys		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E209K	ENST00000370306.2	37	c.625	CCDS14707.1	X	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732640	0.69189	.	.	ENSG00000147402	ENST00000370306	T	0.79247	-1.25	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.251879	0.28589	N	0.014818	T	0.81178	0.4768	L	0.28694	0.88	0.53688	D	0.999971	D	0.63880	0.993	D	0.63113	0.911	T	0.82810	-0.0273	10	0.62326	D	0.03	.	16.2847	0.82712	0.0:0.0:1.0:0.0	.	209	Q9UN88	GBRT_HUMAN	K	209	ENSP00000359329:E209K	ENSP00000359329:E209K	E	+	1	0	GABRQ	151568875	1.000000	0.71417	0.515000	0.27774	0.129000	0.20672	9.564000	0.98151	2.450000	0.82876	0.600000	0.82982	GAA	GABRQ	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.443	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	G	NM_018558		151818219	1	no_errors	ENST00000370306	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151818219	G	A	151818219	3	1	185	1	0	0	0	0	1	0	0	0	6193	1291	45	1	647	1	GABRQ	23	151818219	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	1912450	151818219	3452341	1646	35921										
CSAG1	158511	genome.wustl.edu	37	chrX	151908883	151908883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	gaagatgtccaggaaaccacGagcctccagcccattttcca	8	14	0	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:151908883G>A	ENST00000370287.3	+	4	450	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	CSAG1_ENST00000370291.2_Missense_Mutation_p.R41Q|CSAG1_ENST00000452779.2_Missense_Mutation_p.R41Q	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	41										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAACCACGAGCCTCCAGC	0.562																																																	0													248	224	232					X																	151908883		2203	4300	6503	SO:0001583	missense	158511			AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"cancer/testis antigen family 24, member 1"					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.122G>A	X.37:g.151908883G>A	ENSP00000359310:p.Arg41Gln		A6NE22	Missense_Mutation	SNP	NULL	p.R41Q	ENST00000370287.3	37	c.122	CCDS14711.1	X	.	.	.	.	.	.	.	.	.	.	G	8.472	0.857721	0.17178	.	.	ENSG00000198930	ENST00000370287;ENST00000452779;ENST00000370291	T;T;T	0.59083	0.96;0.96;0.29	0.903	-0.442	0.12253	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.09310	N	1	B	0.23854	0.092	B	0.12156	0.007	T	0.32052	-0.9921	8	0.87932	D	0	.	2.8641	0.05595	0.593:0.0:0.407:0.0	.	41	Q6PB30	CSAG1_HUMAN	Q	41	ENSP00000359310:R41Q;ENSP00000396520:R41Q;ENSP00000359314:R41Q	ENSP00000359310:R41Q	R	+	2	0	CSAG1	151659539	0.004000	0.15560	0.015000	0.15790	0.119000	0.20118	-0.113000	0.10774	-0.192000	0.10432	0.284000	0.19432	CGA	CSAG1	-	NULL		0.562	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSAG1	HGNC	protein_coding	OTTHUMT00000058760.2	G	NM_153479		151908883	1	no_errors	ENST00000370287	ensembl	human	known	70_37	missense	SNP	0.015	A	A	151908883	G	A	151908883	3	1	185	1	0	0	0	0	1	0	0	0	3931	1058	37	1	128	1	CSAG1	23	151908883	Missense_Mutation	SNP	G	TCGA-Q1-A73O-01A-11D-A32I-09	90664	151908883	3361677	1647	35922										
FUNDC2	65991	genome.wustl.edu	37	chrX	154279971	154279971	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.663819402074436	1088	0	4.45695289309132	4.93889462606324	4.04310524175733	0.293364194668373	0.557967193781023	844	aaccatactgggtacatcaaAgttgactggcaacgagtgga	11	8	1	1			TCGA-Q1-A73O-01A-11D-A32I-09	TCGA-Q1-A73O-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	082c8656-7fab-4610-8aba-9505f60be116	f2944d8a-e329-4e1b-aa51-3596ef6dd807	g.chrX:154279971A>C	ENST00000369498.3	+	4	641	c.387A>C	c.(385-387)aaA>aaC	p.K129N	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	129						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGTACATCAAAGTTGACTGGC	0.408																																																	0													101	76	85					X																	154279971		2203	4300	6503	SO:0001583	missense	65991			AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.387A>C	X.37:g.154279971A>C	ENSP00000358510:p.Lys129Asn		B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Missense_Mutation	SNP	pfam_FUN14	p.K129N	ENST00000369498.3	37	c.387	CCDS14763.1	X	.	.	.	.	.	.	.	.	.	.	A	11.09	1.537537	0.27475	.	.	ENSG00000165775	ENST00000369498	.	.	.	5.14	1.28	0.21552	.	0.062472	0.64402	U	0.000007	T	0.54549	0.1865	L	0.48362	1.52	0.39735	D	0.971666	D	0.57899	0.981	P	0.60117	0.869	T	0.50406	-0.8832	9	0.34782	T	0.22	.	6.687	0.23150	0.5983:0.0:0.4017:0.0	.	129	Q9BWH2	FUND2_HUMAN	N	129	.	ENSP00000358510:K129N	K	+	3	2	FUNDC2	153933165	1.000000	0.71417	0.968000	0.41197	0.979000	0.70002	0.853000	0.27777	0.216000	0.20781	0.345000	0.21793	AAA	FUNDC2	-	pfam_FUN14		0.408	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC2	HGNC	protein_coding	OTTHUMT00000037641.3	A	NM_023934		154279971	1	no_errors	ENST00000369498	ensembl	human	known	70_37	missense	SNP	0.924	C	C	154279971	A	C	154279971	3	2	185	1	0	0	0	0	1	0	0	0	6116	69	3	5	401	5	FUNDC2	23	154279971	Missense_Mutation	SNP	A	TCGA-Q1-A73O-01A-11D-A32I-09	2371088	154279971	990589	1648	35923										
ATAD3B	83858	genome.wustl.edu	37	chr1	1425636	1425636	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttccccatccctgtcctacaGattcatgctggtcctggcca	7	16	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:1425636G>A	ENST00000308647.7	+	14	1453		c.e14-1			NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B							mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGTCCTACAGATTCATGCTG	0.617																																																	0													57	55	55					1																	1425636		2201	4299	6500	SO:0001630	splice_region_variant	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1338-1G>A	1.37:g.1425636G>A			A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Splice_Site	SNP	-	e14-1	ENST00000308647.7	37	c.1338-1	CCDS30.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|.	3.579|3.579	-0.086068|-0.086068	0.07097|0.07097	.|.	.|.	ENSG00000160072|ENSG00000160072	ENST00000308647|ENST00000378737	.|.	.|.	.|.	2.07|2.07	1.12|1.12	0.20585|0.20585	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27134	.|0.0665	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.17531	.|-1.0366	.|5	.|0.02654	.|T	.|1	.|.	8.0125|8.0125	0.30361|0.30361	0.1329:0.0:0.8671:0.0|0.1329:0.0:0.8671:0.0	.|.	.|.	.|.	.|.	.|K	-1|249	.|.	.|ENSP00000368011:R249K	.|R	+|+	.|2	.|0	ATAD3B|ATAD3B	1415499|1415499	1.000000|1.000000	0.71417|0.71417	0.759000|0.759000	0.31340|0.31340	0.012000|0.012000	0.07955|0.07955	7.538000|7.538000	0.82048|0.82048	0.199000|0.199000	0.20427|0.20427	-1.054000|-1.054000	0.02325|0.02325	.|AGA	ATAD3B	-	-		0.617	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	G	NM_031921	Intron	1425636	1	no_errors	ENST00000308647	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	1425636	G	A	1425636	5	1	186	1	0	0	0	0	0	0	1	0	1075	956	33	1	1391	1	ATAD3B	1	1425636	Splice_Site	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		1425636	247824985	1	35924										
TP73	7161	genome.wustl.edu	37	chr1	3645929	3645929	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tttgagatcctgatgaagctGaaagagagcctggagctgat	13	6	0	6			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:3645929G>T	ENST00000378295.4	+	10	1268	c.1113G>T	c.(1111-1113)ctG>ctT	p.L371L	TP73_ENST00000346387.4_Silent_p.L371L|TP73_ENST00000378280.1_Silent_p.L322L|TP73_ENST00000604074.1_Silent_p.L371L|TP73_ENST00000357733.3_Silent_p.L371L|TP73_ENST00000378285.1_Silent_p.L322L|TP73_ENST00000378290.4_Silent_p.L300L|TP73_ENST00000354437.4_Silent_p.L371L|TP73_ENST00000604479.1_Silent_p.L371L|TP73_ENST00000603362.1_Silent_p.L371L|TP73_ENST00000378288.4_Silent_p.L322L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	371	Interaction with HIPK2.|Oligomerization. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGATGAAGCTGAAAGAGAGCC	0.637																																																	0													94	87	90					1																	3645929		2202	4300	6502	SO:0001819	synonymous_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1113G>T	1.37:g.3645929G>T			B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.L371	ENST00000378295.4	37	c.1113	CCDS49.1	1																																																																																			TP73	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.637	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	G	NM_005427		3645929	1	no_errors	ENST00000378295	ensembl	human	known	70_37	silent	SNP	1.000	T	T	3645929	G	T	3645929	2	4	186	1	0	0	0	0	0	0	0	1	16424	1277	45	3		3	TP73	1	3645929	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2220293	3645929	245604692	2	35925										
TMCO4	255104	genome.wustl.edu	37	chr1	20009783	20009783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cctggtggggggtctcgcctGatgaggcggcagctgctgcc	18	12	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:20009783G>A	ENST00000294543.6	-	16	1896	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	TMCO4_ENST00000375127.1_Missense_Mutation_p.S552L|TMCO4_ENST00000375122.2_Missense_Mutation_p.S512L|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	552						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGTCTCGCCTGATGAGGCGGC	0.672																																																	0													47	52	50					1																	20009783		2203	4300	6503	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1655C>T	1.37:g.20009783G>A	ENSP00000294543:p.Ser552Leu		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.S552L	ENST00000294543.6	37	c.1655	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555203	0.27739	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.33216	1.45;1.51;1.42	4.82	2.69	0.31865	.	0.514825	0.16105	N	0.229376	T	0.19967	0.0480	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17038	0.0;0.02;0.001	B;B;B	0.17433	0.0;0.018;0.003	T	0.20240	-1.0281	10	0.29301	T	0.29	-17.6577	7.142	0.25562	0.0992:0.3139:0.5869:0.0	.	136;552;512	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	L	552;552;512	ENSP00000294543:S552L;ENSP00000364269:S552L;ENSP00000364264:S512L	ENSP00000294543:S552L	S	-	2	0	TMCO4	19882370	0.610000	0.26983	0.001000	0.08648	0.001000	0.01503	3.174000	0.50847	0.430000	0.26230	-0.165000	0.13383	TCA	TMCO4	-	NULL		0.672	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	G	NM_181719		20009783	-1	no_errors	ENST00000294543	ensembl	human	known	70_37	missense	SNP	0.000	A	A	20009783	G	A	20009783	3	1	186	1	0	0	0	0	1	0	0	0	16028	1294	45	1	253	1	TMCO4	1	20009783	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	16363854	20009783	229240838	3	35926										
TMCO4	255104	genome.wustl.edu	37	chr1	20009808	20009808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggcggcagctgctgcctggcGaggctcctcggagggcaggc	19	13	0	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:20009808G>A	ENST00000294543.6	-	16	1871	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	TMCO4_ENST00000375127.1_Missense_Mutation_p.R544C|TMCO4_ENST00000375122.2_Missense_Mutation_p.R504C|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	544						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCTGCCTGGCGAGGCTCCTCG	0.662																																																	0													36	40	39					1																	20009808		2203	4300	6503	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1630C>T	1.37:g.20009808G>A	ENSP00000294543:p.Arg544Cys		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.R544C	ENST00000294543.6	37	c.1630	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759646	0.31137	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.32753	1.45;1.44;1.46	4.98	4.04	0.47022	.	1.497920	0.04259	N	0.340022	T	0.26666	0.0652	N	0.24115	0.695	0.09310	N	1	B;B;B	0.23058	0.001;0.003;0.079	B;B;B	0.13407	0.0;0.001;0.009	T	0.28713	-1.0035	10	0.54805	T	0.06	-9.8988	11.9306	0.52845	0.0:0.0:0.8256:0.1744	.	128;544;504	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	C	544;544;504	ENSP00000294543:R544C;ENSP00000364269:R544C;ENSP00000364264:R504C	ENSP00000294543:R544C	R	-	1	0	TMCO4	19882395	0.083000	0.21467	0.012000	0.15200	0.066000	0.16364	1.993000	0.40747	1.182000	0.42928	0.467000	0.42956	CGC	TMCO4	-	NULL		0.662	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	G	NM_181719		20009808	-1	no_errors	ENST00000294543	ensembl	human	known	70_37	missense	SNP	0.005	A	A	20009808	G	A	20009808	3	1	186	1	0	0	0	0	1	0	0	0	16028	1058	37	1	278	1	TMCO4	1	20009808	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	25	20009808	229240813	4	35927										
SFPQ	6421	genome.wustl.edu	37	chr1	35654964	35654964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cgtgccatgctgggcaaaacGaggaggggtttctctctccc	13	12	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:35654964G>A	ENST00000357214.5	-	5	1533	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	479					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGGCAAAACGAGGAGGGGTT	0.393			T	TFE3	papillary renal cell																																			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													59	55	56					1																	35654964		2203	4300	6503	SO:0001583	missense	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1435C>T	1.37:g.35654964G>A	ENSP00000349748:p.Arg479Cys		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.R479C	ENST00000357214.5	37	c.1435	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740159	0.89573	.	.	ENSG00000116560	ENST00000357214	T	0.43688	0.94	5.84	5.84	0.93424	NOPS (1);	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75184	-0.3407	10	0.87932	D	0	-8.2101	14.9171	0.70807	0.0:0.0:0.8569:0.1431	.	479	P23246	SFPQ_HUMAN	C	479	ENSP00000349748:R479C	ENSP00000349748:R479C	R	-	1	0	SFPQ	35427551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.785000	0.85724	2.765000	0.95021	0.655000	0.94253	CGT	SFPQ	-	pfam_NOPS		0.393	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	G	NM_005066		35654964	-1	no_errors	ENST00000357214	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35654964	G	A	35654964	3	1	186	1	0	0	0	0	1	0	0	0	14190	1058	37	1	712	1	SFPQ	1	35654964	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	15645156	35654964	213595657	5	35928										
HIVEP3	59269	genome.wustl.edu	37	chr1	42049029	42049029	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cttggcttcacgctgtcgatCtcgctggtgtccaccacggc	11	15	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:42049029C>G	ENST00000372583.1	-	4	2325	c.1440G>C	c.(1438-1440)gaG>gaC	p.E480D	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E480D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E480D|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E480D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	480	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGCTGTCGATCTCGCTGGTGT	0.612																																																	0													82	77	79					1																	42049029		2203	4300	6503	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1440G>C	1.37:g.42049029C>G	ENSP00000361664:p.Glu480Asp		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E480D	ENST00000372583.1	37	c.1440	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719584	0.48728	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.82	3.89	0.44902	.	0.000000	0.52532	D	0.000066	T	0.41190	0.1148	L	0.53249	1.67	0.40511	D	0.980739	D;D	0.76494	0.999;0.999	D;P	0.66497	0.944;0.88	T	0.23297	-1.0192	10	0.54805	T	0.06	-1.0794	11.2249	0.48877	0.0:0.8545:0.0:0.1455	.	480;480	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	480	ENSP00000361665:E480D;ENSP00000361664:E480D;ENSP00000247584:E480D;ENSP00000410828:E480D	ENSP00000247584:E480D	E	-	3	2	HIVEP3	41821616	0.999000	0.42202	1.000000	0.80357	0.746000	0.42486	0.623000	0.24447	2.514000	0.84764	0.561000	0.74099	GAG	HIVEP3	-	NULL		0.612	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	C	NM_024503		42049029	-1	no_errors	ENST00000247584	ensembl	human	known	70_37	missense	SNP	1.000	G	G	42049029	C	G	42049029	3	3	186	1	0	0	0	0	1	0	0	0	7208	912	32	1	5804	1	HIVEP3	1	42049029	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6394065	42049029	207201592	6	35929										
TCTEX1D4	343521	genome.wustl.edu	37	chr1	45272313	45272313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggcattctcctcctcctggcGtcccgggggcagaggcctgc	14	16	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:45272313G>T	ENST00000339355.2	-	1	34	c.28C>A	c.(28-30)Cgc>Agc	p.R10S	TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.R10S|BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000453418.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	10						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCCTCCTGGCGTCCCGGGGGC	0.677																																																	0													9	9	9					1																	45272313		2194	4288	6482	SO:0001583	missense	343521			BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.28C>A	1.37:g.45272313G>T	ENSP00000341803:p.Arg10Ser			Missense_Mutation	SNP	pfam_Tctex	p.R10S	ENST00000339355.2	37	c.28	CCDS30699.1	1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765451	0.31228	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.25250	1.81;1.81	4.9	-7.95	0.01148	.	1.727610	0.03232	N	0.179166	T	0.14874	0.0359	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25950	-1.0117	10	0.59425	D	0.04	-2.2087	4.7174	0.12901	0.4507:0.0:0.2155:0.3338	.	10	Q5JR98	TC1D4_HUMAN	S	10	ENSP00000341803:R10S;ENSP00000361274:R10S	ENSP00000341803:R10S	R	-	1	0	TCTEX1D4	45044900	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-1.063000	0.03465	-1.486000	0.01851	-0.263000	0.10527	CGC	TCTEX1D4	-	NULL		0.677	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D4	HGNC	protein_coding	OTTHUMT00000023733.1	G	NM_001013632		45272313	-1	no_errors	ENST00000339355	ensembl	human	known	70_37	missense	SNP	0.000	T	T	45272313	G	T	45272313	3	4	186	1	0	0	0	0	1	0	0	0	15751	1145	40	2	641	2	TCTEX1D4	1	45272313	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3223284	45272313	203978308	7	35930										
NSUN4	387338	genome.wustl.edu	37	chr1	46806552	46806552	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgctgaagcgtgtggacctCgcgacggtcccgcggagaca	15	13	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:46806552C>T	ENST00000474844.1	+	1	704	c.54C>T	c.(52-54)ctC>ctT	p.L18L	NSUN4_ENST00000536062.1_5'UTR|NSUN4_ENST00000537428.1_5'Flank	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	18					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GTGTGGACCTCGCGACGGTCC	0.607											OREG0013456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29	30	30					1																	46806552		2201	4299	6500	SO:0001819	synonymous_variant	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.54C>T	1.37:g.46806552C>T		942	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.L18	ENST00000474844.1	37	c.54	CCDS534.1	1																																																																																			NSUN4	-	NULL		0.607	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	C	NM_199044		46806552	1	no_errors	ENST00000474844	ensembl	human	known	70_37	silent	SNP	0.001	T	T	46806552	C	T	46806552	2	4	186	1	0	0	0	0	0	0	0	1	10704	871	31	1		1	NSUN4	1	46806552	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1534239	46806552	202444069	8	35931										
MRPL37	51253	genome.wustl.edu	37	chr1	54675624	54675624	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttttctcccttttagagtctCttctccttcaagtccgtggt	6	12	4	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:54675624C>A	ENST00000360840.5	+	4	729	c.652C>A	c.(652-654)Ctt>Att	p.L218I	MRPL37_ENST00000336230.6_Missense_Mutation_p.L87I|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000605337.1_Missense_Mutation_p.L218I	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	218					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TTTAGAGTCTCTTCTCCTTCA	0.502																																																	0													98	98	98					1																	54675624		2203	4300	6503	SO:0001583	missense	51253			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"Mitochondrial ribosomal proteins / large subunits"	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.652C>A	1.37:g.54675624C>A	ENSP00000354086:p.Leu218Ile		Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.L218I	ENST00000360840.5	37	c.652	CCDS589.1	1	.	.	.	.	.	.	.	.	.	.	C	5.501	0.277514	0.10403	.	.	ENSG00000116221	ENST00000360840;ENST00000329505;ENST00000336230	T;T	0.32272	2.33;1.46	5.16	-10.3	0.00346	.	1.233040	0.05457	N	0.550421	T	0.18383	0.0441	L	0.43152	1.355	0.09310	N	1	B;B;B	0.16396	0.017;0.004;0.0	B;B;B	0.15484	0.013;0.01;0.003	T	0.11641	-1.0579	10	0.37606	T	0.19	-5.2092	2.5561	0.04760	0.1526:0.4145:0.193:0.2399	.	87;155;218	A6NHR2;E9PB99;Q9BZE1	.;.;RM37_HUMAN	I	218;155;87	ENSP00000354086:L218I;ENSP00000338526:L87I	ENSP00000328799:L155I	L	+	1	0	MRPL37	54448212	0.000000	0.05858	0.001000	0.08648	0.492000	0.33523	-3.144000	0.00585	-4.183000	0.00067	-1.880000	0.00545	CTT	MRPL37	-	pfam_Ribosomal_L37/S30		0.502	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000022224.1	C	NM_016491		54675624	1	no_errors	ENST00000360840	ensembl	human	known	70_37	missense	SNP	0.000	A	A	54675624	C	A	54675624	3	1	186	1	0	0	0	0	1	0	0	0	9823	913	32	3	666	3	MRPL37	1	54675624	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	7869072	54675624	194574997	9	35932										
C8B	732	genome.wustl.edu	37	chr1	57399128	57399128	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgtgctggaataggcaaaatCtgtggctgtcactagttcat	11	7	3	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:57399128C>T	ENST00000371237.4	-	10	1498	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	C8B_ENST00000535057.1_Missense_Mutation_p.D416N|C8B_ENST00000543257.1_Missense_Mutation_p.D426N	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	478	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TAGGCAAAATCTGTGGCTGTC	0.448																																																	0													80	72	75					1																	57399128		2203	4300	6503	SO:0001583	missense	732			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1432G>A	1.37:g.57399128C>T	ENSP00000360281:p.Asp478Asn		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.D478N	ENST00000371237.4	37	c.1432	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	C	8.042	0.764084	0.15914	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.83992	-1.79;-1.79;-1.79	5.07	3.18	0.36537	Membrane attack complex component/perforin (MACPF) domain (3);	0.154695	0.56097	D	0.000022	T	0.78991	0.4371	M	0.69823	2.125	0.49915	D	0.999833	B;B;B	0.25048	0.054;0.096;0.117	B;B;B	0.23419	0.027;0.039;0.046	T	0.73272	-0.4035	10	0.19590	T	0.45	-25.2595	10.8379	0.46698	0.0:0.792:0.0:0.208	.	426;416;478	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	N	478;426;416	ENSP00000360281:D478N;ENSP00000442548:D426N;ENSP00000440113:D416N	ENSP00000360281:D478N	D	-	1	0	C8B	57171716	0.966000	0.33281	0.442000	0.26870	0.624000	0.37722	2.229000	0.42990	1.497000	0.48584	0.650000	0.86243	GAT	C8B	-	pfam_MACPF,smart_MACPF		0.448	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	C			57399128	-1	no_errors	ENST00000371237	ensembl	human	known	70_37	missense	SNP	0.903	T	T	57399128	C	T	57399128	3	4	186	1	0	0	0	0	1	0	0	0	2422	913	32	1	355	1	C8B	1	57399128	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2723504	57399128	191851493	10	35933										
TACSTD2	4070	genome.wustl.edu	37	chr1	59042151	59042151	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tcgcccttgatgtccctctcGaagtagtaggcggcatcgcc	11	14	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:59042151G>A	ENST00000371225.2	-	1	1015	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	226					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					TGTCCCTCTCGAAGTAGTAGG	0.637																																																	0													15	18	17					1																	59042151		2199	4298	6497	SO:0001819	synonymous_variant	4070			X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.678C>T	1.37:g.59042151G>A			Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Silent	SNP	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.F226	ENST00000371225.2	37	c.678	CCDS609.1	1																																																																																			TACSTD2	-	NULL		0.637	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACSTD2	HGNC	protein_coding	OTTHUMT00000027818.1	G	NM_002353		59042151	-1	no_errors	ENST00000371225	ensembl	human	known	70_37	silent	SNP	0.995	A	A	59042151	G	A	59042151	2	1	186	1	0	0	0	0	0	0	0	1	15538	1049	37	1		1	TACSTD2	1	59042151	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	1643023	59042151	190208470	11	35934										
COL24A1	255631	genome.wustl.edu	37	chr1	86591519	86591519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tttggtttctaatagtaatgGcaaatgagtgccattgctca	9	6	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:86591519G>T	ENST00000370571.2	-	3	866	c.500C>A	c.(499-501)gCc>gAc	p.A167D	COL24A1_ENST00000436319.1_Missense_Mutation_p.A167D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	167	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATAGTAATGGCAAATGAGTG	0.358																																																	0													57	53	54					1																	86591519		1848	4090	5938	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.500C>A	1.37:g.86591519G>T	ENSP00000359603:p.Ala167Asp		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.A167D	ENST00000370571.2	37	c.500	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900249	0.33535	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02944	4.1;4.1	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.39544	N	0.001328	T	0.12518	0.0304	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00448	-1.1733	10	0.87932	D	0	.	19.0718	0.93140	0.0:0.0:1.0:0.0	.	167;167	F8WDM8;Q17RW2	.;COOA1_HUMAN	D	167	ENSP00000359603:A167D;ENSP00000392531:A167D	ENSP00000359603:A167D	A	-	2	0	COL24A1	86364107	1.000000	0.71417	0.948000	0.38648	0.035000	0.12851	9.419000	0.97397	2.751000	0.94390	0.655000	0.94253	GCC	COL24A1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	G	NM_152890		86591519	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86591519	G	T	86591519	3	4	186	1	0	0	0	0	1	0	0	0	3688	1203	42	4	4876	4	COL24A1	1	86591519	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	27549368	86591519	162659102	12	35935										
ZNF326	284695	genome.wustl.edu	37	chr1	90482950	90482950	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgaactgcatctggaaagttCttcacatcaggaaacattag	8	8	4	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:90482950C>G	ENST00000340281.4	+	8	1144	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C	ZNF326_ENST00000455342.2_Missense_Mutation_p.S128C|ZNF326_ENST00000370447.3_Missense_Mutation_p.S245C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	334					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTGGAAAGTTCTTCACATCAG	0.299																																																	0													63	64	64					1																	90482950		2201	4293	6494	SO:0001583	missense	284695			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1001C>G	1.37:g.90482950C>G	ENSP00000340796:p.Ser334Cys		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	pfam_AKAP95	p.S334C	ENST00000340281.4	37	c.1001	CCDS727.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290861	0.80914	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.47528	0.84;0.84;0.84	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);	0.457223	0.23045	N	0.052570	T	0.31670	0.0804	N	0.08118	0	0.36243	D	0.853415	P;P	0.49783	0.928;0.928	P;P	0.50791	0.65;0.526	T	0.45411	-0.9263	10	0.72032	D	0.01	-1.1937	19.3839	0.94548	0.0:1.0:0.0:0.0	.	334;334	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	C	334;334;245;128	ENSP00000340796:S334C;ENSP00000359476:S245C;ENSP00000403470:S128C	ENSP00000340796:S334C	S	+	2	0	ZNF326	90255538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.180000	0.71981	2.578000	0.87016	0.650000	0.86243	TCT	ZNF326	-	pfam_AKAP95		0.299	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	C	NM_181781		90482950	1	no_errors	ENST00000340281	ensembl	human	known	70_37	missense	SNP	0.999	G	G	90482950	C	G	90482950	3	3	186	1	0	0	0	0	1	0	0	0	17876	913	32	1	1035	1	ZNF326	1	90482950	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	3891431	90482950	158767671	13	35936										
LPPR4	9890	genome.wustl.edu	37	chr1	99771889	99771889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agttggtgcacatccctgagGagactcaggaaaacataagc	11	9	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:99771889G>A	ENST00000370185.3	+	7	2112	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	LPPR4_ENST00000370184.1_Missense_Mutation_p.E381K|LPPR4_ENST00000457765.1_Missense_Mutation_p.E481K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		539					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CATCCCTGAGGAGACTCAGGA	0.557																																																	0													107	111	110					1																	99771889		2203	4300	6503	SO:0001583	missense	9890																														ENST00000370185.3:c.1615G>A	1.37:g.99771889G>A	ENSP00000359204:p.Glu539Lys		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.E539K	ENST00000370185.3	37	c.1615	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643454	0.87859	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.34072	1.94;1.76;1.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.78314	0.991;0.979	T	0.37957	-0.9683	9	.	.	.	-26.9995	19.6433	0.95764	0.0:0.0:1.0:0.0	.	481;539	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	539;481;539;381	ENSP00000359204:E539K;ENSP00000394913:E481K;ENSP00000359203:E381K	.	E	+	1	0	RP4-788L13.1	99544477	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.360000	0.97119	2.638000	0.89438	0.591000	0.81541	GAG	LPPR4	-	NULL		0.557	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_genename	protein_coding	OTTHUMT00000029670.2	G			99771889	1	no_errors	ENST00000370185	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99771889	G	A	99771889	3	1	186	1	0	0	0	0	1	0	0	0	8950	1175	41	1	1641	1	LPPR4	1	99771889	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	9288939	99771889	149478732	14	35937										
PTPN22	26191	genome.wustl.edu	37	chr1	114380957	114380957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cttatttcagaagtcctaaaGtcaaaggaagaagattcttt	7	6	3	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:114380957G>T	ENST00000359785.5	-	13	1200	c.1065C>A	c.(1063-1065)gaC>gaA	p.D355E	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.D300E|PTPN22_ENST00000538253.1_Missense_Mutation_p.D111E|PTPN22_ENST00000525799.1_Missense_Mutation_p.D228E|PTPN22_ENST00000420377.2_Missense_Mutation_p.D355E	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	355					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTCCTAAAGTCAAAGGAAG	0.343																																																	0													138	110	120					1																	114380957		2202	4300	6502	SO:0001583	missense	26191			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1065C>A	1.37:g.114380957G>T	ENSP00000352833:p.Asp355Glu		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.D355E	ENST00000359785.5	37	c.1065	CCDS863.1	1	.	.	.	.	.	.	.	.	.	.	G	8.839	0.941684	0.18281	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.82	1.27	0.21489	.	0.773311	0.12108	N	0.498818	T	0.07503	0.0189	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B;B	0.28512	0.021;0.214;0.007;0.059;0.012;0.004	B;B;B;B;B;B	0.21917	0.013;0.031;0.004;0.037;0.006;0.007	T	0.29488	-1.0010	10	0.35671	T	0.21	.	2.3165	0.04199	0.2:0.151:0.4948:0.1542	.	111;228;355;300;355;355	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	E	355;300;111;355;228;355	ENSP00000352833:D355E;ENSP00000435176:D300E;ENSP00000439372:D111E;ENSP00000388229:D355E;ENSP00000432674:D228E	ENSP00000346621:D355E	D	-	3	2	PTPN22	114182480	0.004000	0.15560	0.115000	0.21578	0.507000	0.33981	0.403000	0.20982	0.351000	0.24027	0.655000	0.94253	GAC	PTPN22	-	pirsf_Non-rcpt_Tyr_Pase_8/22		0.343	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	G	NM_015967		114380957	-1	no_errors	ENST00000359785	ensembl	human	known	70_37	missense	SNP	0.001	T	T	114380957	G	T	114380957	3	4	186	1	0	0	0	0	1	0	0	0	12817	1020	36	4	1417	4	PTPN22	1	114380957	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	14609068	114380957	134869664	15	35938										
CSDE1	7812	genome.wustl.edu	37	chr1	115277086	115277086	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	catggcacaaactactccctGacagcgggcttgtttctttt	8	12	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:115277086G>A	ENST00000358528.4	-	7	985	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	CSDE1_ENST00000534699.1_Nonsense_Mutation_p.Q187*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.Q156*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.Q202*|CSDE1_ENST00000438362.2_Nonsense_Mutation_p.Q233*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.Q57*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.Q156*	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	187	CSD 3.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTACTCCCTGACAGCGGGCT	0.398																																																	0													77	78	78					1																	115277086		2203	4300	6503	SO:0001587	stop_gained	7812				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.559C>T	1.37:g.115277086G>A	ENSP00000351329:p.Gln187*		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Nonsense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot	p.Q202*	ENST00000358528.4	37	c.604	CCDS30812.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.137267	0.98672	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699;ENST00000529046	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.595	20.3967	0.98985	0.0:0.0:1.0:0.0	.	.	.	.	X	156;233;187;156;57;202;187;57	.	ENSP00000261443:Q156X	Q	-	1	0	CSDE1	115078609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.540000	0.82074	2.829000	0.97493	0.655000	0.94253	CAG	CSDE1	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot		0.398	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1	G	NM_007158		115277086	-1	no_errors	ENST00000369530	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	115277086	G	A	115277086	4	1	186	1	0	0	0	0	0	1	0	0	3934	1299	45	1	1893	1	CSDE1	1	115277086	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	896129	115277086	133973535	16	35939										
TRIM45	80263	genome.wustl.edu	37	chr1	117660797	117660797	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tccaggacgggtgctatattGaactttgttcagcttcctga	10	9	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:117660797G>A	ENST00000256649.4	-	2	1607	c.1081C>T	c.(1081-1083)Caa>Taa	p.Q361*	TRIM45_ENST00000369464.3_Nonsense_Mutation_p.Q361*|TRIM45_ENST00000369461.3_Nonsense_Mutation_p.Q304*	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	361					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GTGCTATATTGAACTTTGTTC	0.493																																																	0													106	105	105					1																	117660797		2203	4300	6503	SO:0001587	stop_gained	80263				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1081C>T	1.37:g.117660797G>A	ENSP00000256649:p.Gln361*		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Nonsense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q361*	ENST00000256649.4	37	c.1081	CCDS893.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.100000	0.94197	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	.	.	.	4.91	4.0	0.46444	.	0.388497	0.30076	N	0.010475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-10.76	12.8658	0.57937	0.0:0.8333:0.1667:0.0	.	.	.	.	X	361;361;304	.	ENSP00000256649:Q361X	Q	-	1	0	TRIM45	117462320	0.026000	0.19158	0.003000	0.11579	0.004000	0.04260	0.968000	0.29357	1.299000	0.44798	-0.147000	0.13772	CAA	TRIM45	-	NULL		0.493	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	HGNC	protein_coding	OTTHUMT00000033503.1	G	NM_025188		117660797	-1	no_errors	ENST00000256649	ensembl	human	known	70_37	nonsense	SNP	0.004	A	A	117660797	G	A	117660797	4	1	186	1	0	0	0	0	0	1	0	0	16551	1299	45	1	681	1	TRIM45	1	117660797	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2383711	117660797	131589824	17	35940										
CGN	57530	genome.wustl.edu	37	chr1	151498167	151498167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaagatgtcagcccttgtgcGagggctgcagagggagctgg	18	8	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:151498167G>A	ENST00000271636.7	+	9	1797	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	549	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCTTGTGCGAGGGCTGCAG	0.567																																																	0													79	67	71					1																	151498167		2203	4300	6503	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1664G>A	1.37:g.151498167G>A	ENSP00000271636:p.Arg555Gln		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.R555Q	ENST00000271636.7	37	c.1664	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097875	0.76870	.	.	ENSG00000143375	ENST00000271636	T	0.65549	-0.16	4.35	3.41	0.39046	.	0.122200	0.53938	D	0.000043	T	0.67951	0.2948	M	0.72118	2.19	0.41939	D	0.990609	D	0.89917	1.0	D	0.79108	0.992	T	0.68731	-0.5331	10	0.37606	T	0.19	-13.0687	12.4916	0.55903	0.0:0.0:0.8314:0.1686	.	549	Q9P2M7	CING_HUMAN	Q	555	ENSP00000271636:R555Q	ENSP00000271636:R555Q	R	+	2	0	CGN	149764791	1.000000	0.71417	0.905000	0.35620	0.922000	0.55478	5.810000	0.69179	1.134000	0.42165	0.655000	0.94253	CGA	CGN	-	NULL		0.567	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	G	NM_020770		151498167	1	no_errors	ENST00000271636	ensembl	human	known	70_37	missense	SNP	0.980	A	A	151498167	G	A	151498167	3	1	186	1	0	0	0	0	1	0	0	0	3308	1058	37	1	1694	1	CGN	1	151498167	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	33837370	151498167	97752454	18	35941										
HRNR	388697	genome.wustl.edu	37	chr1	152186120	152186120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cgtggctggaggagtgccccAaaccggacccatgtcggccg	15	14	0	0	rs79071169		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:152186120A>G	ENST00000368801.2	-	3	8060	c.7985T>C	c.(7984-7986)tTg>tCg	p.L2662S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2662					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCAAACCGGACCC	0.627																																																	0													2	1	2					1																	152186120		633	1341	1974	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7985T>C	1.37:g.152186120A>G	ENSP00000357791:p.Leu2662Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L2662S	ENST00000368801.2	37	c.7985	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.318895	0.10845	.	.	ENSG00000197915	ENST00000368801	T	0.01474	4.85	3.38	1.38	0.22167	.	.	.	.	.	T	0.00178	0.0005	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	9	0.06099	T	0.92	.	6.3342	0.21287	0.5018:0.0:0.4982:0.0	.	2662	Q86YZ3	HORN_HUMAN	S	2662	ENSP00000357791:L2662S	ENSP00000357791:L2662S	L	-	2	0	HRNR	150452744	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.670000	0.25157	-0.044000	0.13491	-0.307000	0.09154	TTG	HRNR	-	NULL		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	A	XM_373868		152186120	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	G	G	152186120	A	G	152186120	3	3	186	1	0	0	0	0	1	0	0	0	7379	131	5	5	571	5	HRNR	1	152186120	Missense_Mutation	SNP	A	TCGA-Q1-A73P-01A-11D-A32I-09	687953	152186120	97064501	19	35942										
ARHGEF11	9826	genome.wustl.edu	37	chr1	156928604	156928604	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gagagggtccccatccaggtCcagcaggtcattttcaccat	10	13	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:156928604C>G	ENST00000361409.2	-	16	2054	c.1312G>C	c.(1312-1314)Gac>Cac	p.D438H	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D478H	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	438	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCATCCAGGTCCAGCAGGTCA	0.522																																																	0													56	53	54					1																	156928604		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1312G>C	1.37:g.156928604C>G	ENSP00000354644:p.Asp438His		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.D478H	ENST00000361409.2	37	c.1432	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056709	0.55325	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.84370	-1.84;-1.84	4.98	4.98	0.66077	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.198146	0.34959	N	0.003554	T	0.74574	0.3734	L	0.40543	1.245	0.80722	D	1	B;B	0.22003	0.063;0.029	B;B	0.20384	0.029;0.011	T	0.72887	-0.4156	10	0.51188	T	0.08	-7.9506	18.0224	0.89259	0.0:1.0:0.0:0.0	.	438;478	O15085;O15085-2	ARHGB_HUMAN;.	H	478;438	ENSP00000357177:D478H;ENSP00000354644:D438H	ENSP00000354644:D438H	D	-	1	0	ARHGEF11	155195228	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.213000	0.58520	2.606000	0.88127	0.491000	0.48974	GAC	ARHGEF11	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam		0.522	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156928604	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	G	G	156928604	C	G	156928604	3	3	186	1	0	0	0	0	1	0	0	0	896	855	30	1	3356	1	ARHGEF11	1	156928604	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4742484	156928604	92322017	20	35943										
RGS5	8490	genome.wustl.edu	37	chr1	163117208	163117208	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tttccatcagggcatggattCttttctgggccatgtcaaag	10	9	4	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:163117208C>G	ENST00000313961.5	-	5	747	c.470G>C	c.(469-471)aGa>aCa	p.R157T	RGS5_ENST00000367903.3_Missense_Mutation_p.R177T|RGS5_ENST00000530507.1_Missense_Mutation_p.R161T|RGS5_ENST00000527988.1_Missense_Mutation_p.R49T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	157	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGCATGGATTCTTTTCTGGGC	0.453																																																	0													152	138	143					1																	163117208		2203	4300	6503	SO:0001583	missense	8490			AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"Regulators of G-protein signaling"	10001	protein-coding gene	gene with protein product		603276	"regulator of G-protein signalling 5"			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.470G>C	1.37:g.163117208C>G	ENSP00000319308:p.Arg157Thr		E9PMP5|Q53XA9|Q599J0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.R157T	ENST00000313961.5	37	c.470	CCDS1244.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974541	0.74246	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507;ENST00000527988	T;T;T;T	0.01918	4.56;4.56;4.56;4.56	5.48	5.48	0.80851	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.045544	0.85682	D	0.000000	T	0.02083	0.0065	L	0.41710	1.295	0.44728	D	0.997726	B	0.31227	0.314	P	0.44732	0.459	T	0.40403	-0.9565	9	0.62326	D	0.03	.	10.3223	0.43773	0.0:0.9116:0.0:0.0884	.	157	O15539	RGS5_HUMAN	T	157;177;161;49	ENSP00000319308:R157T;ENSP00000356879:R177T;ENSP00000433001:R161T;ENSP00000432313:R49T	ENSP00000319308:R157T	R	-	2	0	RGS5	161383832	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.665000	0.46791	2.572000	0.86782	0.655000	0.94253	AGA	RGS5	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.453	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGS5	HGNC	protein_coding	OTTHUMT00000083264.1	C	NM_003617		163117208	-1	no_errors	ENST00000313961	ensembl	human	known	70_37	missense	SNP	1.000	G	G	163117208	C	G	163117208	3	3	186	1	0	0	0	0	1	0	0	0	13338	913	32	1	79	1	RGS5	1	163117208	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6188604	163117208	86133413	21	35944										
MYOC	4653	genome.wustl.edu	37	chr1	171605823	171605823	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgttctcagcgtgagaggctCtcctacccaaactagttctc	8	13	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:171605823C>G	ENST00000037502.6	-	3	828	c.757G>C	c.(757-759)Gag>Cag	p.E253Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	253	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTGAGAGGCTCTCCTACCCAA	0.483																																																	0													81	86	85					1																	171605823		2203	4300	6503	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.757G>C	1.37:g.171605823C>G	ENSP00000037502:p.Glu253Gln		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.E253Q	ENST00000037502.6	37	c.757	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506806	0.26949	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.89123	-2.47	5.76	3.88	0.44766	Olfactomedin-like (3);	0.284518	0.44688	N	0.000431	T	0.81403	0.4815	M	0.61703	1.905	0.42799	D	0.993923	B;B	0.27823	0.19;0.183	B;B	0.33196	0.159;0.125	T	0.78924	-0.2012	10	0.49607	T	0.09	.	10.4121	0.44301	0.0:0.7805:0.1452:0.0743	.	195;253	B4DV44;Q99972	.;MYOC_HUMAN	Q	253;206;186;253	ENSP00000037502:E253Q	ENSP00000037502:E253Q	E	-	1	0	MYOC	169872446	1.000000	0.71417	0.997000	0.53966	0.207000	0.24258	3.023000	0.49666	0.759000	0.33084	0.555000	0.69702	GAG	MYOC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.483	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		171605823	-1	no_errors	ENST00000037502	ensembl	human	known	70_37	missense	SNP	0.998	G	G	171605823	C	G	171605823	3	3	186	1	0	0	0	0	1	0	0	0	10109	922	32	1	761	1	MYOC	1	171605823	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	8488615	171605823	77644798	22	35945										
TNR	7143	genome.wustl.edu	37	chr1	175360461	175360461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaggtaggggggctgcgggcCtgttctttcagagccaccac	16	11	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:175360461C>T	ENST00000367674.2	-	7	2178	c.1470G>A	c.(1468-1470)caG>caA	p.Q490Q	TNR_ENST00000263525.2_Silent_p.Q490Q			Q92752	TENR_HUMAN	tenascin R	490	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCTGCGGGCCTGTTCTTTCA	0.552																																																	0													74	75	75					1																	175360461		2203	4300	6503	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1470G>A	1.37:g.175360461C>T			C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.Q490	ENST00000367674.2	37	c.1470	CCDS1318.1	1																																																																																			TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	C	NM_003285		175360461	-1	no_errors	ENST00000263525	ensembl	human	known	70_37	silent	SNP	1.000	T	T	175360461	C	T	175360461	2	4	186	1	0	0	0	0	0	0	0	1	16368	680	24	4		4	TNR	1	175360461	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	3754638	175360461	73890160	23	35946										
EDEM3	80267	genome.wustl.edu	37	chr1	184681603	184681603	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atgctttgatttgtagtagaGagccaaagaggtaacagatg	12	4	0	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:184681603G>C	ENST00000318130.8	-	14	1766	c.1500C>G	c.(1498-1500)ctC>ctG	p.L500L	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Silent_p.L457L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	500					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGTAGTAGAGAGCCAAAGAG	0.284																																																	0													71	72	71					1																	184681603		2203	4289	6492	SO:0001819	synonymous_variant	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1500C>G	1.37:g.184681603G>C			B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L500	ENST00000318130.8	37	c.1500	CCDS1363.2	1																																																																																			EDEM3	-	superfamily_Glyco_hydro_47		0.284	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	G	NM_025191		184681603	-1	no_errors	ENST00000318130	ensembl	human	known	70_37	silent	SNP	0.036	C	C	184681603	G	C	184681603	2	2	186	1	0	0	0	0	0	0	0	1	4923	929	33	1		1	EDEM3	1	184681603	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	9321142	184681603	64569018	24	35947										
EDEM3	80267	genome.wustl.edu	37	chr1	184681623	184681623	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gagccaaagaggtaacagatGagcttctgttgtaaagatgt	12	5	1	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:184681623G>A	ENST00000318130.8	-	14	1746	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Missense_Mutation_p.H451Y	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	494					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTAACAGATGAGCTTCTGTT	0.294																																																	0													72	73	73					1																	184681623		2203	4287	6490	SO:0001583	missense	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1480C>T	1.37:g.184681623G>A	ENSP00000318147:p.His494Tyr		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.H494Y	ENST00000318130.8	37	c.1480	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862065	0.91511	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	D;D	0.82984	-1.67;-1.67	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.95592	0.8567	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97298	0.9929	10	0.87932	D	0	.	19.7826	0.96422	0.0:0.0:1.0:0.0	.	494	Q9BZQ6	EDEM3_HUMAN	Y	494;451	ENSP00000318147:H494Y;ENSP00000356482:H451Y	ENSP00000318147:H494Y	H	-	1	0	EDEM3	182948246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.680000	0.91292	0.655000	0.94253	CAT	EDEM3	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.294	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	G	NM_025191		184681623	-1	no_errors	ENST00000318130	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184681623	G	A	184681623	3	1	186	1	0	0	0	0	1	0	0	0	4923	1290	45	1	1346	1	EDEM3	1	184681623	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	20	184681623	64568998	25	35948										
TNNT2	7139	genome.wustl.edu	37	chr1	201334773	201334773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctctccatcggggatcttggGaggcaccaagttgggcatga	14	10	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:201334773G>A	ENST00000509001.1	-	8	515	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	TNNT2_ENST00000367318.5_Missense_Mutation_p.P77S|TNNT2_ENST00000236918.7_Missense_Mutation_p.P82S|TNNT2_ENST00000421663.2_Missense_Mutation_p.P79S|TNNT2_ENST00000367320.2_Missense_Mutation_p.P86S|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367317.4_Missense_Mutation_p.P77S|TNNT2_ENST00000458432.2_Missense_Mutation_p.P89S|TNNT2_ENST00000360372.4_Missense_Mutation_p.P72S|TNNT2_ENST00000367322.1_Missense_Mutation_p.P77S|TNNT2_ENST00000367315.2_Missense_Mutation_p.P77S	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	87					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GGGATCTTGGGAGGCACCAAG	0.592																																																	0													120	106	111					1																	201334773		2203	4300	6503	SO:0001583	missense	7139			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.229C>T	1.37:g.201334773G>A	ENSP00000422031:p.Pro77Ser		A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	pfam_Troponin	p.P89S	ENST00000509001.1	37	c.265	CCDS30969.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742188	0.89573	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165;ENST00000412633	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99474	-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97	4.68	4.68	0.58851	.	0.168493	0.53938	D	0.000044	D	0.99312	0.9759	L	0.54965	1.715	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.83275	0.926;0.996;0.996;0.99;0.964;0.996	D	0.99320	1.0906	10	0.87932	D	0	-17.9571	17.5485	0.87870	0.0:0.0:1.0:0.0	.	72;89;86;87;77;87	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	S	77;77;89;79;82;77;77;72;73;18;86;77;72;87;82;76	ENSP00000356291:P77S;ENSP00000356287:P77S;ENSP00000387874:P89S;ENSP00000404134:P79S;ENSP00000236918:P82S;ENSP00000356286:P77S;ENSP00000356284:P77S;ENSP00000353535:P72S;ENSP00000356289:P86S;ENSP00000422031:P77S;ENSP00000414036:P72S;ENSP00000402238:P87S;ENSP00000395163:P82S;ENSP00000408731:P76S	ENSP00000236918:P82S	P	-	1	0	TNNT2	199601396	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	9.613000	0.98350	2.297000	0.77311	0.561000	0.74099	CCC	TNNT2	-	NULL		0.592	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TNNT2	HGNC	protein_coding	OTTHUMT00000360358.1	G	NM_000364		201334773	-1	no_errors	ENST00000458432	ensembl	human	known	70_37	missense	SNP	1.000	A	A	201334773	G	A	201334773	3	1	186	1	0	0	0	0	1	0	0	0	16361	1174	41	1	676	1	TNNT2	1	201334773	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	16653150	201334773	47915848	26	35949										
CD55	1604	genome.wustl.edu	37	chr1	207510124	207510124	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cagaagtctcaccaacttctCagaaaaccaccacaaaaacc	3	15	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:207510124C>G	ENST00000367064.3	+	7	1198	c.940C>G	c.(940-942)Cag>Gag	p.Q314E	CD55_ENST00000391921.4_Missense_Mutation_p.Q250E|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367065.5_Missense_Mutation_p.Q314E|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Missense_Mutation_p.Q314E|CD55_ENST00000391920.4_Missense_Mutation_p.Q314E|CD55_ENST00000367063.2_Missense_Mutation_p.Q314E|CD55_ENST00000367062.4_Missense_Mutation_p.Q314E	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	314	Ser/Thr-rich.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ACCAACTTCTCAGAAAACCAC	0.413																																																	0													193	179	184					1																	207510124		2203	4300	6503	SO:0001583	missense	1604			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.940C>G	1.37:g.207510124C>G	ENSP00000356031:p.Gln314Glu		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q314E	ENST00000367064.3	37	c.940	CCDS31006.1	1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501123	0.44455	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T	0.35421	1.36;1.56;1.71;1.48;1.45;1.31;1.34	3.81	3.81	0.43845	.	0.382629	0.21299	N	0.076828	T	0.45577	0.1349	L	0.55990	1.75	0.80722	D	1	D;D;D;B;D;B	0.67145	0.996;0.996;0.996;0.063;0.996;0.13	P;P;P;B;P;B	0.60473	0.875;0.836;0.836;0.011;0.836;0.033	T	0.17137	-1.0379	10	0.13470	T	0.59	.	11.4997	0.50430	0.0:1.0:0.0:0.0	.	314;250;314;314;314;314	Q14UF6;B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;.;DAF_HUMAN;.	E	314;314;250;250;314;314;314;314	ENSP00000356031:Q314E;ENSP00000356030:Q314E;ENSP00000375788:Q250E;ENSP00000316333:Q314E;ENSP00000356032:Q314E;ENSP00000375787:Q314E;ENSP00000356029:Q314E	ENSP00000316333:Q314E	Q	+	1	0	CD55	205576747	0.992000	0.36948	0.461000	0.27105	0.051000	0.14879	-0.345000	0.07770	2.429000	0.82318	0.462000	0.41574	CAG	CD55	-	NULL		0.413	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD55	HGNC	protein_coding	OTTHUMT00000088208.2	C	NM_000574		207510124	1	no_errors	ENST00000314754	ensembl	human	known	70_37	missense	SNP	0.656	G	G	207510124	C	G	207510124	3	3	186	1	0	0	0	0	1	0	0	0	3029	827	29	1	966	1	CD55	1	207510124	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6175351	207510124	41740497	27	35950										
USH2A	7399	genome.wustl.edu	37	chr1	216595454	216595454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cgctgggtacagaactgaatActttcagcagcagcagagct	11	10	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:216595454A>C	ENST00000307340.3	-	2	611	c.225T>G	c.(223-225)agT>agG	p.S75R	USH2A_ENST00000366943.2_Missense_Mutation_p.S75R|USH2A_ENST00000366942.3_Missense_Mutation_p.S75R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	75					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAACTGAATACTTTCAGCAG	0.498										HNSCC(13;0.011)																																							0													102	98	99					1																	216595454		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.225T>G	1.37:g.216595454A>C	ENSP00000305941:p.Ser75Arg		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S75R	ENST00000307340.3	37	c.225	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941081	0.53079	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.20463	2.51;2.5;2.07	5.27	-4.57	0.03421	.	0.581325	0.15099	U	0.280658	T	0.21631	0.0521	L	0.57536	1.79	0.09310	N	1	P;P	0.43477	0.773;0.808	B;B	0.42555	0.316;0.391	T	0.10222	-1.0639	10	0.40728	T	0.16	.	15.0607	0.71951	0.3651:0.0:0.6349:0.0	.	75;75	O75445-2;O75445	.;USH2A_HUMAN	R	75	ENSP00000305941:S75R;ENSP00000355910:S75R;ENSP00000355909:S75R	ENSP00000305941:S75R	S	-	3	2	USH2A	214662077	0.001000	0.12720	0.000000	0.03702	0.424000	0.31475	0.040000	0.13905	-0.951000	0.03654	0.482000	0.46254	AGT	USH2A	-	NULL		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	A	NM_007123		216595454	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.000	C	C	216595454	A	C	216595454	3	2	186	1	0	0	0	0	1	0	0	0	17067	388	14	5	15681	5	USH2A	1	216595454	Missense_Mutation	SNP	A	TCGA-Q1-A73P-01A-11D-A32I-09	9085330	216595454	32655167	28	35951										
CEP170	9859	genome.wustl.edu	37	chr1	243349710	243349710	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgaatcactttgcgtaccatCatcatgtttatttcctggat	6	9	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:243349710C>T	ENST00000366542.1	-	9	1174	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N	CEP170_ENST00000366543.1_Missense_Mutation_p.D375N|CEP170_ENST00000366544.1_Missense_Mutation_p.D375N	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	375						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGCGTACCATCATCATGTTTA	0.398																																																	0													75	69	71					1																	243349710		1895	4120	6015	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1123G>A	1.37:g.243349710C>T	ENSP00000355500:p.Asp375Asn		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.D375N	ENST00000366542.1	37	c.1123	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.837568|4.837568	0.91117|0.91117	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.62788|.	-0.0;0.09;0.09|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.048724|.	0.85682|.	D|.	0.000000|.	T|T	0.72581|0.72581	0.3478|0.3478	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.983;1.0|.	D;D;D|.	0.91635|.	0.999;0.936;0.998|.	T|T	0.70092|0.70092	-0.4967|-0.4967	10|5	0.66056|.	D|.	0.02|.	-15.4813|-15.4813	18.9535|18.9535	0.92649|0.92649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	375;375;375|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	N|I	375;375;375;273|276	ENSP00000355500:D375N;ENSP00000355502:D375N;ENSP00000355501:D375N|.	ENSP00000355500:D375N|.	D|M	-|-	1|3	0|0	CEP170|CEP170	241416333|241416333	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.487000|7.487000	0.81328|0.81328	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	GAT|ATG	CEP170	-	NULL		0.398	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	C	NM_014812		243349710	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	1.000	T	T	243349710	C	T	243349710	3	4	186	1	0	0	0	0	1	0	0	0	3255	826	29	1	3709	1	CEP170	1	243349710	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	26754256	243349710	5900911	29	35952										
C2orf28	51374	genome.wustl.edu	37	chr2	27438606	27438606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggcaaaagaacctttgcaatAacactggggacccaggtatg	11	9	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:27438606A>G	ENST00000606999.1	+	5	530	c.472A>G	c.(472-474)Aac>Gac	p.N158D	ATRAID_ENST00000380171.3_Missense_Mutation_p.N213D|CAD_ENST00000264705.4_5'Flank|ATRAID_ENST00000405489.3_Missense_Mutation_p.N100D|CAD_ENST00000403525.1_5'Flank	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	158	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CCTTTGCAATAACACTGGGGA	0.413																																																	0													91	91	91					2																	27438606		2203	4300	6503	SO:0001583	missense	51374			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"apoptosis-related protein 3"		"chromosome 2 open reading frame 28"	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.472A>G	2.37:g.27438606A>G	ENSP00000476080:p.Asn158Asp		A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	pfscan_EG-like_dom	p.N213D	ENST00000606999.1	37	c.637		2	.	.	.	.	.	.	.	.	.	.	A	4.713	0.132560	0.09032	.	.	ENSG00000138085	ENST00000380171;ENST00000405489	T;T	0.43294	0.95;0.98	5.3	4.16	0.48862	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.326257	0.38605	N	0.001629	T	0.20129	0.0484	N	0.08118	0	0.22354	N	0.999173	B;B	0.25667	0.031;0.131	B;B	0.23419	0.016;0.046	T	0.09357	-1.0678	10	0.29301	T	0.29	-26.4305	7.065	0.25147	0.9011:0.0:0.0989:0.0	.	158;213	Q6UW56;Q6UW56-3	APR3_HUMAN;.	D	213;100	ENSP00000369518:N213D;ENSP00000384033:N100D	ENSP00000369518:N213D	N	+	1	0	C2orf28	27292110	0.996000	0.38824	0.991000	0.47740	0.377000	0.30045	0.906000	0.28517	2.014000	0.59158	0.533000	0.62120	AAC	ATRAID	-	pfscan_EG-like_dom		0.413	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	ATRAID	HGNC	protein_coding	OTTHUMT00000470709.1	A	NM_016085		27438606	1	no_errors	ENST00000380171	ensembl	human	known	70_37	missense	SNP	0.995	G	G	27438606	A	G	27438606	3	3	186	1	0	0	0	0	1	0	0	0	2165	362	13	5	655	5	C2orf28	2	27438606	Missense_Mutation	SNP	A	TCGA-Q1-A73P-01A-11D-A32I-09		27438606	215760767	30	35953										
TRMT61B	55006	genome.wustl.edu	37	chr2	29087905	29087905	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gctttggataaaaataagctCattccaccagagcctgagcc	8	11	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:29087905C>T	ENST00000306108.5	-	2	803	c.780G>A	c.(778-780)atG>atA	p.M260I		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	260					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AAAATAAGCTCATTCCACCAG	0.358																																																	0													69	62	65					2																	29087905		2203	4300	6503	SO:0001583	missense	55006			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.780G>A	2.37:g.29087905C>T	ENSP00000302801:p.Met260Ile		Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	p.M260I	ENST00000306108.5	37	c.780	CCDS1768.1	2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713455	0.89112	.	.	ENSG00000171103	ENST00000306108	T	0.40756	1.02	5.31	5.31	0.75309	.	0.054850	0.64402	D	0.000002	T	0.50154	0.1599	L	0.28504	0.86	0.36535	D	0.87093	P;D	0.64830	0.745;0.994	B;P	0.57502	0.303;0.822	T	0.59925	-0.7362	10	0.72032	D	0.01	.	18.9807	0.92754	0.0:1.0:0.0:0.0	.	260;260	F8WDR2;Q9BVS5	.;TR61B_HUMAN	I	260	ENSP00000302801:M260I	ENSP00000302801:M260I	M	-	3	0	TRMT61B	28941409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.458000	0.53014	2.478000	0.83669	0.650000	0.86243	ATG	TRMT61B	-	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT		0.358	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61B	HGNC	protein_coding	OTTHUMT00000250224.1	C	NM_017910		29087905	-1	no_errors	ENST00000306108	ensembl	human	known	70_37	missense	SNP	1.000	T	T	29087905	C	T	29087905	3	4	186	1	0	0	0	0	1	0	0	0	16601	826	29	1	677	1	TRMT61B	2	29087905	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1649299	29087905	214111468	31	35954										
BIRC6	57448	genome.wustl.edu	37	chr2	32772925	32772925	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgttattttaagccacaggtGtcaagctctcataaccctac	6	11	2	0	rs368206423		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:32772925G>T	ENST00000421745.2	+	64	12953	c.12819G>T	c.(12817-12819)gtG>gtT	p.V4273V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4273					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGCCACAGGTGTCAAGCTCTC	0.378																																					Pancreas(94;175 1509 16028 18060 45422)												0								G		0,4406		0,0,2203	70	67	68		12819	2.3	1	2		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BIRC6	NM_016252.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		4273/4858	32772925	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12819G>T	2.37:g.32772925G>T			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.V4273	ENST00000421745.2	37	c.12819	CCDS33175.2	2																																																																																			BIRC6	-	NULL		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	G	NM_016252		32772925	1	no_errors	ENST00000421745	ensembl	human	known	70_37	silent	SNP	0.984	T	T	32772925	G	T	32772925	2	4	186	1	0	0	0	0	0	0	0	1	1439	1364	48	4		4	BIRC6	2	32772925	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3685020	32772925	210426448	32	35955										
CRIM1	51232	genome.wustl.edu	37	chr2	36775709	36775709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctagtatctgtggactgcaaGaaaggaaccagagtccaggt	12	8	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:36775709G>A	ENST00000280527.2	+	17	3343	c.2976G>A	c.(2974-2976)aaG>aaA	p.K992K	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	992					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGGACTGCAAGAAAGGAACCA	0.393																																																	0													83	81	82					2																	36775709		2203	4300	6503	SO:0001819	synonymous_variant	51232			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2976G>A	2.37:g.36775709G>A			Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.K992	ENST00000280527.2	37	c.2976	CCDS1783.1	2																																																																																			CRIM1	-	NULL		0.393	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	G	NM_016441		36775709	1	no_errors	ENST00000280527	ensembl	human	known	70_37	silent	SNP	1.000	A	A	36775709	G	A	36775709	2	1	186	1	0	0	0	0	0	0	0	1	3878	933	33	1		1	CRIM1	2	36775709	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	4002784	36775709	206423664	33	35956										
PLEKHH2	130271	genome.wustl.edu	37	chr2	43924496	43924496	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgaaggaaaagacatggaagGtatttatgaactacaggaat	11	3	0	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:43924496G>T	ENST00000282406.4	+	7	798		c.e7+1			NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACATGGAAGGTATTTATGAA	0.333																																																	0													57	56	56					2																	43924496		2203	4300	6503	SO:0001630	splice_region_variant	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.688+1G>T	2.37:g.43924496G>T			Q5JPJ6|Q6P4Q1|Q8N3Q3	Splice_Site	SNP	-	e6+1	ENST00000282406.4	37	c.688+1	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659011	0.67586	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7889	0.85582	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHH2	43778000	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.277000	0.72608	2.389000	0.81357	0.650000	0.86243	.	PLEKHH2	-	-		0.333	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	G	NM_172069	Intron	43924496	1	no_errors	ENST00000282406	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	43924496	G	T	43924496	5	4	186	1	0	0	0	0	0	0	1	0	12101	1275	44	4	711	4	PLEKHH2	2	43924496	Splice_Site	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	7148787	43924496	199274877	34	35957										
SRBD1	55133	genome.wustl.edu	37	chr2	45800396	45800396	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggaaaaatgctggtagagcaGaaacttatcaacatctttct	8	7	3	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:45800396G>A	ENST00000263736.4	-	9	1317	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	419					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGGTAGAGCAGAAACTTATCA	0.358																																																	0													126	124	125					2																	45800396		2203	4300	6503	SO:0001819	synonymous_variant	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1255C>T	2.37:g.45800396G>A			Q53T56|Q96TA4|Q9NW11	Silent	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.L419	ENST00000263736.4	37	c.1255	CCDS1823.1	2																																																																																			SRBD1	-	NULL		0.358	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	G	NM_018079		45800396	-1	no_errors	ENST00000263736	ensembl	human	known	70_37	silent	SNP	0.991	A	A	45800396	G	A	45800396	2	1	186	1	0	0	0	0	0	0	0	1	15163	933	33	1		1	SRBD1	2	45800396	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	1875900	45800396	197398977	35	35958										
SPTBN1	6711	genome.wustl.edu	37	chr2	54856551	54856551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gatgacattgatgcctggatGctggacatcctcaagattgt	11	8	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:54856551G>T	ENST00000356805.4	+	14	2561	c.2280G>T	c.(2278-2280)atG>atT	p.M760I	SPTBN1_ENST00000333896.5_Missense_Mutation_p.M747I	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	760					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			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)			ATGCCTGGATGCTGGACATCC	0.567																																																	0													65	66	65					2																	54856551		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2280G>T	2.37:g.54856551G>T	ENSP00000349259:p.Met760Ile		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.M760I	ENST00000356805.4	37	c.2280	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909317	0.52439	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.37411	1.63;1.2	5.37	5.37	0.77165	.	0.080041	0.85682	D	0.000000	T	0.32071	0.0817	L	0.28608	0.87	0.51012	D	0.999906	B;B	0.13594	0.004;0.008	B;B	0.14023	0.009;0.01	T	0.04840	-1.0923	10	0.46703	T	0.11	.	19.4802	0.95007	0.0:0.0:1.0:0.0	.	747;760	Q01082-3;Q01082	.;SPTB2_HUMAN	I	760;747	ENSP00000349259:M760I;ENSP00000334156:M747I	ENSP00000334156:M747I	M	+	3	0	SPTBN1	54710055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.893000	0.87330	2.692000	0.91855	0.655000	0.94253	ATG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.567	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54856551	1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54856551	G	T	54856551	3	4	186	1	0	0	0	0	1	0	0	0	15149	1319	46	4	2443	4	SPTBN1	2	54856551	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	9056155	54856551	188342822	36	35959										
DOK1	1796	genome.wustl.edu	37	chr2	74783590	74783590	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggacaggggcacgatgttctCagagctgactcccatgaagg	14	10	1	3	rs373881338		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:74783590C>G	ENST00000233668.5	+	5	1464	c.795C>G	c.(793-795)ctC>ctG	p.L265L	LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000340004.6_3'UTR|M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000409429.1_Silent_p.L126L|LOXL3_ENST00000393937.2_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	265					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACGATGTTCTCAGAGCTGACT	0.622																																					Esophageal Squamous(36;520 860 12502 33616 51270)												0													55	57	56					2																	74783590		2203	4300	6503	SO:0001819	synonymous_variant	1796			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"docking protein 1, 62kD (downstream of tyrosine kinase 1)"			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.795C>G	2.37:g.74783590C>G			O43204|Q53TY2|Q9UHG6	Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.L265	ENST00000233668.5	37	c.795	CCDS1954.1	2																																																																																			DOK1	-	NULL		0.622	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK1	HGNC	protein_coding	OTTHUMT00000252218.3	C	NM_001381		74783590	1	no_errors	ENST00000233668	ensembl	human	known	70_37	silent	SNP	0.002	G	G	74783590	C	G	74783590	2	3	186	1	0	0	0	0	0	0	0	1	4706	813	29	1		1	DOK1	2	74783590	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	19927039	74783590	168415783	37	35960										
PROM2	150696	genome.wustl.edu	37	chr2	95947744	95947744	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cttggcctgaggaagaacatCagcatccaccaagcctatca	8	13	2	2	rs541032487	byFrequency	TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:95947744C>T	ENST00000317620.9	+	13	1756	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	PROM2_ENST00000542147.1_Silent_p.I541I|PROM2_ENST00000403131.2_Silent_p.I541I|PROM2_ENST00000317668.4_Silent_p.I541I	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	541					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAAGAACATCAGCATCCACC	0.622													C|||	3	0.000599042	0	0	5008	,	,		18498	0		0	False		,,,				2504	0.0031																0													94	82	86					2																	95947744		2203	4300	6503	SO:0001819	synonymous_variant	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1623C>T	2.37:g.95947744C>T			A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	pfam_Prominin	p.I541	ENST00000317620.9	37	c.1623	CCDS2012.1	2																																																																																			PROM2	-	pfam_Prominin		0.622	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	C	NM_144707		95947744	1	no_errors	ENST00000317620	ensembl	human	known	70_37	silent	SNP	0.984	T	T	95947744	C	T	95947744	2	4	186	1	0	0	0	0	0	0	0	1	12583	816	29	1		1	PROM2	2	95947744	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	21164154	95947744	147251629	38	35961										
CNNM4	26504	genome.wustl.edu	37	chr2	97427598	97427598	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tctttggggagatcctacctCaggccctgtgctcccgacat	10	14	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:97427598C>T	ENST00000377075.2	+	1	960	c.862C>T	c.(862-864)Cag>Tag	p.Q288*		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	288	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GATCCTACCTCAGGCCCTGTG	0.557																																																	0													126	124	125					2																	97427598		2203	4300	6503	SO:0001587	stop_gained	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.862C>T	2.37:g.97427598C>T	ENSP00000366275:p.Gln288*		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Nonsense_Mutation	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Q288*	ENST00000377075.2	37	c.862	CCDS2024.2	2	.	.	.	.	.	.	.	.	.	.	C	38	6.693071	0.97768	.	.	ENSG00000158158	ENST00000377075	.	.	.	5.03	5.03	0.67393	.	0.064958	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.872	17.1425	0.86757	0.0:1.0:0.0:0.0	.	.	.	.	X	288	.	ENSP00000366275:Q288X	Q	+	1	0	CNNM4	96791325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.330000	0.79161	0.655000	0.94253	CAG	CNNM4	-	pfam_DUF21		0.557	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	C	NM_020184		97427598	1	no_errors	ENST00000377075	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	97427598	C	T	97427598	4	4	186	1	0	0	0	0	0	1	0	0	3620	827	29	1	864	1	CNNM4	2	97427598	Nonsense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1479854	97427598	145771775	39	35962										
RGPD4	285190	genome.wustl.edu	37	chr2	108478127	108478127	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaagaatgcaaaaattatctGagaaagaccaggggctacct	10	7	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:108478127G>C	ENST00000408999.3	+	15	2213	c.2136G>C	c.(2134-2136)ctG>ctC	p.L712L	RGPD4_ENST00000354986.4_Silent_p.L712L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	712					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAAATTATCTGAGAAAGACCA	0.353																																																	0													51	42	44					2																	108478127		692	1575	2267	SO:0001819	synonymous_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2136G>C	2.37:g.108478127G>C			B9A029	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L712	ENST00000408999.3	37	c.2136	CCDS46381.1	2																																																																																			RGPD4	-	NULL		0.353	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108478127	1	no_errors	ENST00000354986	ensembl	human	known	70_37	silent	SNP	1.000	C	C	108478127	G	C	108478127	2	2	186	1	0	0	0	0	0	0	0	1	13318	1277	45	1		1	RGPD4	2	108478127	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	11050529	108478127	134721246	40	35963										
MYO7B	4648	genome.wustl.edu	37	chr2	128341727	128341727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctctgcatcaacttcgccaaCgagcacctgcagcagttctt	7	15	3	0	rs374298824		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:128341727C>T	ENST00000409816.2	+	12	1406	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	MYO7B_ENST00000389524.4_Silent_p.N458N|MYO7B_ENST00000428314.1_Silent_p.N458N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	458	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTTCGCCAACGAGCACCTGC	0.597																																																	0								C		0,4406		0,0,2203	63	65	64		1374	-9.4	0.1	2		64	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MYO7B	NM_001080527.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		458/2117	128341727	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1374C>T	2.37:g.128341727C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.N458	ENST00000409816.2	37	c.1374	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.597	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128341727	1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.044	T	T	128341727	C	T	128341727	2	4	186	1	0	0	0	0	0	0	0	1	10106	535	19	2		2	MYO7B	2	128341727	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	19863600	128341727	114857646	41	35964										
TTN	7273	genome.wustl.edu	37	chr2	179547593	179547593	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaaacagcttcttcttctagGgtataagccctttctttctc	6	11	5	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:179547593G>T	ENST00000591111.1	-	133	32198	c.31974C>A	c.(31972-31974)acC>acA	p.T10658T	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.T10975T|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.T9731T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTTCTAGGGTATAAGCCC	0.333																																																	0													161	136	144					2																	179547593		1832	4079	5911	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31974C>A	2.37:g.179547593G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T9731	ENST00000591111.1	37	c.29193		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179547593	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.000	T	T	179547593	G	T	179547593	2	4	186	1	0	0	0	0	0	0	0	1	16766	1219	43	4		4	TTN	2	179547593	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	51205866	179547593	63651780	42	35965										
FAM126B	285172	genome.wustl.edu	37	chr2	201846253	201846253	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agcactggctgtccggattaGacttaagctattgatttttg	10	7	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:201846253G>A	ENST00000418596.3	-	12	1520	c.1333C>T	c.(1333-1335)Cta>Tta	p.L445L	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	445						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GTCCGGATTAGACTTAAGCTA	0.463																																																	0													90	81	84					2																	201846253		2203	4300	6503	SO:0001819	synonymous_variant	285172			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1333C>T	2.37:g.201846253G>A			B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	pfam_Hyccin	p.L445	ENST00000418596.3	37	c.1333	CCDS2335.1	2																																																																																			FAM126B	-	NULL		0.463	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3	G	NM_173822		201846253	-1	no_errors	ENST00000418596	ensembl	human	known	70_37	silent	SNP	0.402	A	A	201846253	G	A	201846253	2	1	186	1	0	0	0	0	0	0	0	1	5445	933	33	1		1	FAM126B	2	201846253	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	22298660	201846253	41353120	43	35966										
ALS2CR4	65062	genome.wustl.edu	37	chr2	202494551	202494551	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgtggtctttatcaactctGaacgatcagcagcctggaat	9	10	4	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:202494551G>A	ENST00000409883.2	-	8	694	c.578C>T	c.(577-579)tCa>tTa	p.S193L	TMEM237_ENST00000409444.2_Missense_Mutation_p.S185L|TMEM237_ENST00000466839.1_5'UTR	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	193					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TATCAACTCTGAACGATCAGC	0.438																																																	0													103	103	103					2																	202494551		1915	4125	6040	SO:0001583	missense	65062			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.578C>T	2.37:g.202494551G>A	ENSP00000386264:p.Ser193Leu		B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	NULL	p.S193L	ENST00000409883.2	37	c.578	CCDS46489.1	2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598142	0.66332	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.77	5.77	0.91146	.	0.440703	0.26262	N	0.025392	T	0.47691	0.1459	M	0.68952	2.095	0.21719	N	0.999571	P;P	0.35575	0.51;0.51	B;B	0.32864	0.154;0.154	T	0.51466	-0.8702	9	0.48119	T	0.1	-8.3204	15.9156	0.79512	0.0:0.0:0.8642:0.1358	.	193;217	E9PAR8;Q96Q45	.;TM237_HUMAN	L	185;193;193;215;98	.	ENSP00000386949:S98L	S	-	2	0	TMEM237	202202796	0.999000	0.42202	0.917000	0.36280	0.992000	0.81027	5.522000	0.67092	2.885000	0.99019	0.655000	0.94253	TCA	TMEM237	-	NULL		0.438	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM237	HGNC	protein_coding	OTTHUMT00000335753.1	G	NM_152388		202494551	-1	no_errors	ENST00000409883	ensembl	human	known	70_37	missense	SNP	0.230	A	A	202494551	G	A	202494551	3	1	186	1	0	0	0	0	1	0	0	0	554	1294	45	1	672	1	ALS2CR4	2	202494551	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	648298	202494551	40704822	44	35967										
TATDN2	9797	genome.wustl.edu	37	chr3	10312369	10312369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttcattgacactcattgtcaCctggacatgctctattccaa	5	12	4	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:10312369C>T	ENST00000287652.4	+	4	2554	c.1503C>T	c.(1501-1503)caC>caT	p.H501H	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.H501H	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	501					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTCATTGTCACCTGGACATGC	0.507																																																	0													86	85	85					3																	10312369		2203	4300	6503	SO:0001819	synonymous_variant	9797			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1503C>T	3.37:g.10312369C>T			Q3MIL9|Q5BKU0	Silent	SNP	pfam_TatD_family	p.H501	ENST00000287652.4	37	c.1503	CCDS33698.1	3																																																																																			TATDN2	-	pfam_TatD_family		0.507	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	C	XM_376203		10312369	1	no_errors	ENST00000287652	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10312369	C	T	10312369	2	4	186	1	0	0	0	0	0	0	0	1	15622	506	18	4		4	TATDN2	3	10312369	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		10312369	187710061	45	35968										
GORASP1	64689	genome.wustl.edu	37	chr3	39144311	39144312	+	Frame_Shift_Ins	INS	-	-	GCTT													0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cttcatattgaacacctccaINSgcttcacgggcttctccaca							TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:39144311_39144312insGCTT	ENST00000319283.3	-	3	1026_1027	c.205_206insAAGC	c.(205-207)ctgfs	p.L69fs	GORASP1_ENST00000479927.1_Intron|GORASP1_ENST00000422110.2_Intron	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	69	PDZ.				Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAACACCTCCAGCTTCACGGGC	0.594																																																	0																																										SO:0001589	frameshift_variant	64689			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"golgi phosphoprotein 5"	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.202_205dupAAGC	3.37:g.39144312_39144315dupGCTT	ENSP00000313869:p.Leu69fs		B3KWC8|Q3SYG7|Q8N272|Q96H42	Frame_Shift_Ins	INS	pfam_GRASP55/65_PDZ,superfamily_PDZ	p.L69fs	ENST00000319283.3	37	c.206_205	CCDS2681.1	3																																																																																			GORASP1	-	pfam_GRASP55/65_PDZ,superfamily_PDZ		0.594	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GORASP1	HGNC	protein_coding	OTTHUMT00000254060.1	-			39144312	-1	no_errors	ENST00000319283	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GCTT	GCTT	39144312	-	GCTT	39144311	7	5	186	1	0	1	1	0	0	0	0	0	6594	188	7	0	1144	0	GORASP1	3	39144311	Frame_Shift_Ins	INS	-	TCGA-Q1-A73P-01A-11D-A32I-09	28831942	39144311	158878119	46	35969										
ZBTB47	92999	genome.wustl.edu	37	chr3	42700892	42700892	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aagagagctctgaggaggagGagggggaggagggggaggct	24	3	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:42700892G>T	ENST00000232974.6	+	2	1326	c.1045G>T	c.(1045-1047)Gag>Tag	p.E349*	ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000457842.3_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	349	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		Tgaggaggaggagggggagga	0.662																																																	0													3	7	6					3																	42700892		567	1419	1986	SO:0001587	stop_gained	92999			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1045G>T	3.37:g.42700892G>T	ENSP00000232974:p.Glu349*		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E349*	ENST00000232974.6	37	c.1045	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	g	21.6	4.171570	0.78452	.	.	ENSG00000114853	ENST00000232974	.	.	.	3.04	2.16	0.27623	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	6.0839	0.19956	0.1476:0.0:0.8524:0.0	.	.	.	.	X	349	.	ENSP00000232974:E349X	E	+	1	0	ZBTB47	42675896	0.710000	0.27896	0.708000	0.30435	0.202000	0.24057	1.496000	0.35638	0.499000	0.27970	-0.372000	0.07161	GAG	ZBTB47	-	NULL		0.662	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	G	NM_145166		42700892	1	no_errors	ENST00000232974	ensembl	human	known	70_37	nonsense	SNP	0.991	T	T	42700892	G	T	42700892	4	4	186	1	0	0	0	0	0	1	0	0	17578	1175	41	3	1047	3	ZBTB47	3	42700892	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3556581	42700892	155321538	47	35970										
DUSP7	1849	genome.wustl.edu	37	chr3	52088244	52088244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	actgctgggcagctctcggtCcgactcgccgtcggagcagt	14	14	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:52088244C>T	ENST00000495880.1	-	2	847	c.664G>A	c.(664-666)Gac>Aac	p.D222N	DUSP7_ENST00000296483.6_Missense_Mutation_p.D171N			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	222	Ser-rich.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTCTCGGTCCGACTCGCCG	0.672																																																	0													93	87	89					3																	52088244		2203	4300	6503	SO:0001583	missense	1849			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.664G>A	3.37:g.52088244C>T	ENSP00000417183:p.Asp222Asn		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.D171N	ENST00000495880.1	37	c.511	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	C	36	5.899541	0.97081	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.10573	4.2;4.23;2.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.02852	-1.1102	10	0.39692	T	0.17	.	19.0554	0.93062	0.0:1.0:0.0:0.0	.	171;222	Q16829-2;Q16829	.;DUS7_HUMAN	N	222;171;155	ENSP00000417183:D222N;ENSP00000296483:D171N;ENSP00000418566:D155N	ENSP00000296483:D171N	D	-	1	0	DUSP7	52063284	1.000000	0.71417	0.947000	0.38551	0.905000	0.53344	7.753000	0.85153	2.585000	0.87301	0.549000	0.68633	GAC	DUSP7	-	pirsf_MKP		0.672	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	HGNC	protein_coding	OTTHUMT00000349697.1	C	NM_001947		52088244	-1	no_errors	ENST00000296483	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52088244	C	T	52088244	3	4	186	1	0	0	0	0	1	0	0	0	4840	855	30	1	603	1	DUSP7	3	52088244	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	9387352	52088244	145934186	48	35971										
ITIH1	3697	genome.wustl.edu	37	chr3	52825555	52825555	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	caatttttccaccccatcggTtttgaagtgtctgacatcca	6	12	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:52825555T>G	ENST00000273283.2	+	21	2541	c.2517T>G	c.(2515-2517)ggT>ggG	p.G839G	ITIH1_ENST00000537050.1_Silent_p.G551G|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.G697G|ITIH1_ENST00000405128.3_Silent_p.G205G	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	839	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACCCCATCGGTTTTGAAGTGT	0.592																																																	0													88	85	86					3																	52825555		2203	4300	6503	SO:0001819	synonymous_variant	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2517T>G	3.37:g.52825555T>G			A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G839	ENST00000273283.2	37	c.2517	CCDS2864.1	3																																																																																			ITIH1	-	pfam_ITI_HC_C		0.592	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	T	NM_002215		52825555	1	no_errors	ENST00000273283	ensembl	human	known	70_37	silent	SNP	0.869	G	G	52825555	T	G	52825555	2	3	186	1	0	0	0	0	0	0	0	1	7923	1712	60	5		5	ITIH1	3	52825555	Silent	SNP	T	TCGA-Q1-A73P-01A-11D-A32I-09	737311	52825555	145196875	49	35972										
POLQ	10721	genome.wustl.edu	37	chr3	121190912	121190912	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	attaagacacttttcccgctGaaggggaaagaccactttgg	10	9	0	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:121190912G>A	ENST00000264233.5	-	22	6771	c.6643C>T	c.(6643-6645)Cag>Tag	p.Q2215*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2215					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCCCGCTGAAGGGGAAAG	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													65	66	66					3																	121190912		2203	4300	6503	SO:0001587	stop_gained	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6643C>T	3.37:g.121190912G>A	ENSP00000264233:p.Gln2215*		O95160|Q6VMB5	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.Q2215*	ENST00000264233.5	37	c.6643	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	48	14.621701	0.99803	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.16	5.16	0.70880	.	0.102111	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.1909	0.93666	0.0:0.0:1.0:0.0	.	.	.	.	X	1838;2215;2351	.	ENSP00000264233:Q2215X	Q	-	1	0	POLQ	122673602	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.146000	0.94640	2.847000	0.97988	0.591000	0.81541	CAG	POLQ	-	NULL		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121190912	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	121190912	G	A	121190912	4	1	186	1	0	0	0	0	0	1	0	0	12232	1299	45	1	1165	1	POLQ	3	121190912	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	68365357	121190912	76831518	50	35973										
ARGFX	503582	genome.wustl.edu	37	chr3	121305032	121305032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gatttcagatttctacagctCccttccatctcagcccttag	5	14	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:121305032C>T	ENST00000334384.3	+	4	543	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TTCTACAGCTCCCTTCCATCT	0.488																																																	0													186	174	178					3																	121305032		2203	4300	6503	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.533C>T	3.37:g.121305032C>T	ENSP00000335578:p.Ser178Phe			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S178F	ENST00000334384.3	37	c.533	CCDS33834.1	3	.	.	.	.	.	.	.	.	.	.	C	8.377	0.836570	0.16891	.	.	ENSG00000186103	ENST00000334384	D	0.90069	-2.61	3.56	-1.34	0.09143	.	0.932084	0.08892	N	0.878495	T	0.76083	0.3938	N	0.17082	0.46	0.09310	N	1	B	0.21225	0.053	B	0.20767	0.031	T	0.60439	-0.7263	10	0.33940	T	0.23	-0.0141	3.3564	0.07171	0.1788:0.419:0.0:0.4023	.	178	A6NJG6	ARGFX_HUMAN	F	178	ENSP00000335578:S178F	ENSP00000335578:S178F	S	+	2	0	ARGFX	122787722	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.075000	0.11431	-0.295000	0.08960	-0.310000	0.09108	TCC	ARGFX	-	NULL		0.488	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGFX	HGNC	protein_coding	OTTHUMT00000355096.2	C	NM_001012659		121305032	1	no_errors	ENST00000334384	ensembl	human	known	70_37	missense	SNP	0.000	T	T	121305032	C	T	121305032	3	4	186	1	0	0	0	0	1	0	0	0	859	855	30	1	547	1	ARGFX	3	121305032	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	114120	121305032	76717398	51	35974										
HPS3	84343	genome.wustl.edu	37	chr3	148880529	148880529	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tcagctcttggtagacttttGggaagctcagctagtggcat	12	8	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:148880529G>T	ENST00000296051.2	+	13	2485	c.2345G>T	c.(2344-2346)tGg>tTg	p.W782L	HPS3_ENST00000460120.1_Missense_Mutation_p.W617L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	782					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.W782L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTAGACTTTTGGGAAGCTCAG	0.418									Hermansky-Pudlak syndrome																																								1	Substitution - Missense(1)	kidney(1)											146	144	145					3																	148880529		2203	4300	6503	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2345G>T	3.37:g.148880529G>T	ENSP00000296051:p.Trp782Leu		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps3_subunit	p.W782L	ENST00000296051.2	37	c.2345	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887278	0.72410	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.67865	-0.28;-0.29	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66771	-0.5839	10	0.17369	T	0.5	-13.5037	20.1911	0.98230	0.0:0.0:1.0:0.0	.	617;782	G5E9V4;Q969F9	.;HPS3_HUMAN	L	782;617	ENSP00000296051:W782L;ENSP00000418230:W617L	ENSP00000296051:W782L	W	+	2	0	HPS3	150363219	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.103000	0.89550	2.779000	0.95612	0.563000	0.77884	TGG	HPS3	-	pirsf_BLOC-2_complex_Hps3_subunit		0.418	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	G	NM_032383		148880529	1	no_errors	ENST00000296051	ensembl	human	known	70_37	missense	SNP	1.000	T	T	148880529	G	T	148880529	3	4	186	1	0	0	0	0	1	0	0	0	7360	1357	47	4	2395	4	HPS3	3	148880529	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	27575497	148880529	49141901	52	35975										
MBNL1	4154	genome.wustl.edu	37	chr3	152018043	152018043	+	Nonsense_Mutation	SNP	G	G	T													0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	taacactggaagtatgtagaGagttccagagggggacttgc							TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:152018043G>T	ENST00000463374.1	+	1	572	c.61G>T	c.(61-63)Gag>Tag	p.E21*	MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000282486.6_Nonsense_Mutation_p.E21*|MBNL1_ENST00000282488.7_Nonsense_Mutation_p.E21*|MBNL1_ENST00000498502.1_Nonsense_Mutation_p.E21*|MBNL1_ENST00000485509.1_Nonsense_Mutation_p.E21*|MBNL1_ENST00000357472.3_Nonsense_Mutation_p.E21*|MBNL1_ENST00000545754.1_Nonsense_Mutation_p.E21*|MBNL1_ENST00000485910.1_Nonsense_Mutation_p.E21*|MBNL1_ENST00000355460.2_Nonsense_Mutation_p.E21*|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324210.5_Nonsense_Mutation_p.E21*|MBNL1_ENST00000324196.5_Nonsense_Mutation_p.E21*|MBNL1_ENST00000492948.1_Nonsense_Mutation_p.E21*	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	21					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGTATGTAGAGAGTTCCAGAG	0.438																																																	0													100	95	97					3																	152018043		2203	4300	6503	SO:0001587	stop_gained	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.61G>T	3.37:g.152018043G>T	ENSP00000418108:p.Glu21*		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Nonsense_Mutation	SNP	smart_Znf_CCCH	p.E21*	ENST00000463374.1	37	c.61	CCDS3165.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.698769|8.698769	0.98920|0.98920	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.121378|0.121378	0.64402|0.64402	D|D	0.000013|0.000013	T|.	0.81612|.	0.4859|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83751|.	0.0209|.	4|.	.|0.87932	.|D	.|0	.|.	19.297|19.297	0.94126|0.94126	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	19|21	.|.	.|ENSP00000282486:E21X	E|E	+|+	3|1	2|0	MBNL1|MBNL1	153500733|153500733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.424000|4.424000	0.59868|0.59868	2.561000|2.561000	0.86390|0.86390	0.586000|0.586000	0.80456|0.80456	GAG|GAG	MBNL1	-	smart_Znf_CCCH		0.438	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	G	NM_021038		152018043	1	no_errors	ENST00000282486	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	152018043	G	T	152018043	4	4	186	1	0	0	0	0	0	1	0	0	9376	943	33	3	63	3	MBNL1	3	152018043	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3137514	152018043	46004387	53	35976	229	2								
MBNL1	4154	genome.wustl.edu	37	chr3	152018051	152018051	+	Missense_Mutation	SNP	G	G	T													0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaagtatgtagagagttccaGagggggacttgctcacggcc							TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:152018051G>T	ENST00000463374.1	+	1	580	c.69G>T	c.(67-69)caG>caT	p.Q23H	MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000282486.6_Missense_Mutation_p.Q23H|MBNL1_ENST00000282488.7_Missense_Mutation_p.Q23H|MBNL1_ENST00000498502.1_Missense_Mutation_p.Q23H|MBNL1_ENST00000485509.1_Missense_Mutation_p.Q23H|MBNL1_ENST00000357472.3_Missense_Mutation_p.Q23H|MBNL1_ENST00000545754.1_Missense_Mutation_p.Q23H|MBNL1_ENST00000485910.1_Missense_Mutation_p.Q23H|MBNL1_ENST00000355460.2_Missense_Mutation_p.Q23H|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324210.5_Missense_Mutation_p.Q23H|MBNL1_ENST00000324196.5_Missense_Mutation_p.Q23H|MBNL1_ENST00000492948.1_Missense_Mutation_p.Q23H	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	23					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GAGAGTTCCAGAGGGGGACTT	0.433																																																	0													103	98	100					3																	152018051		2203	4300	6503	SO:0001583	missense	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.69G>T	3.37:g.152018051G>T	ENSP00000418108:p.Gln23His		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	smart_Znf_CCCH	p.Q23H	ENST00000463374.1	37	c.69	CCDS3165.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.99|13.99	2.402273|2.402273	0.42613|0.42613	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509|ENST00000464596	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33|.	5.43|5.43	2.86|2.86	0.33363|0.33363	Zinc finger, CCCH-type (2);|.	0.112706|.	0.64402|.	D|.	0.000009|.	T|T	0.78666|0.78666	0.4319|0.4319	M|M	0.92412|0.92412	3.305|3.305	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D;D;D|.	0.63880|.	0.989;0.991;0.991;0.993;0.961;0.987;0.977|.	D;D;P;D;P;D;D|.	0.67548|.	0.928;0.945;0.891;0.952;0.853;0.94;0.921|.	T|T	0.78575|0.78575	-0.2151|-0.2151	10|5	0.66056|.	D|.	0.02|.	.|.	8.9284|8.9284	0.35655|0.35655	0.7531:0.0:0.2469:0.0|0.7531:0.0:0.2469:0.0	.|.	23;23;23;23;23;23;23|.	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q9NR56-2;Q96P92|.	.;.;.;MBNL1_HUMAN;.;.;.|.	H|I	23|22	ENSP00000282486:Q23H;ENSP00000282488:Q23H;ENSP00000347637:Q23H;ENSP00000319429:Q23H;ENSP00000420327:Q23H;ENSP00000319374:Q23H;ENSP00000437491:Q23H;ENSP00000350064:Q23H;ENSP00000418427:Q23H;ENSP00000418108:Q23H;ENSP00000417630:Q23H;ENSP00000420103:Q23H;ENSP00000418876:Q23H|.	ENSP00000282486:Q23H|.	Q|R	+|+	3|2	2|0	MBNL1|MBNL1	153500741|153500741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.695000|2.695000	0.47043|0.47043	0.301000|0.301000	0.22738|0.22738	-0.225000|-0.225000	0.12378|0.12378	CAG|AGA	MBNL1	-	smart_Znf_CCCH		0.433	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	G	NM_021038		152018051	1	no_errors	ENST00000282486	ensembl	human	known	70_37	missense	SNP	1.000	T	T	152018051	G	T	152018051	3	4	186	1	0	0	0	0	1	0	0	0	9376	933	33	3	71	3	MBNL1	3	152018051	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	8	152018051	46004379	54	35977	229	2								
LRRC31	79782	genome.wustl.edu	37	chr3	169578463	169578463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gagggttccacctacaaaacCattccaggagatatccagtt	8	11	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:169578463C>A	ENST00000316428.5	-	3	430	c.373G>T	c.(373-375)Ggt>Tgt	p.G125C	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.G125C|LRRC31_ENST00000264676.5_Intron	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	125										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCTACAAAACCATTCCAGGAG	0.448																																																	0													123	115	118					3																	169578463		1916	4135	6051	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.373G>T	3.37:g.169578463C>A	ENSP00000325978:p.Gly125Cys		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G125C	ENST00000316428.5	37	c.373	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838612	0.51057	.	.	ENSG00000114248	ENST00000316428;ENST00000523069	T;T	0.59772	0.24;0.24	5.24	4.36	0.52297	.	0.355735	0.30901	N	0.008650	T	0.48857	0.1523	L	0.46819	1.47	0.23023	N	0.998415	D	0.52996	0.957	B	0.41946	0.371	T	0.52946	-0.8507	10	0.59425	D	0.04	-0.2047	10.1632	0.42864	0.0:0.8445:0.0:0.1555	.	125	Q6UY01	LRC31_HUMAN	C	125	ENSP00000325978:G125C;ENSP00000429145:G125C	ENSP00000325978:G125C	G	-	1	0	LRRC31	171061157	1.000000	0.71417	0.897000	0.35233	0.559000	0.35586	2.632000	0.46511	2.441000	0.82636	0.650000	0.86243	GGT	LRRC31	-	NULL		0.448	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	C	NM_024727		169578463	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	missense	SNP	0.986	A	A	169578463	C	A	169578463	3	1	186	1	0	0	0	0	1	0	0	0	9009	594	21	4	1313	4	LRRC31	3	169578463	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	17560412	169578463	28443967	55	35978										
PIK3CA	5290	genome.wustl.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178936082	G	A	178936082	3	1	186	1	0	0	0	0	1	0	0	0	11937	1291	45	1	1658	1	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	9357619	178936082	19086348	56	35979										
C3orf59	151963	genome.wustl.edu	37	chr3	192516720	192516720	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gatgatggctttgcaggcctGataggcctgcatgaggctgc	15	9	0	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:192516720G>A	ENST00000392452.2	-	2	1251	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																																	2	Substitution - Missense(2)	lung(2)											34	35	34					3																	192516720		2203	4300	6503	SO:0001587	stop_gained	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>T	3.37:g.192516720G>A	ENSP00000376246:p.Gln311*		Q86VD8	Nonsense_Mutation	SNP	pfam_Mab-21_dom	p.Q311*	ENST00000392452.2	37	c.931	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	38	6.850684	0.97885	.	.	ENSG00000180611	ENST00000392452	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	.	.	.	X	311	.	ENSP00000376246:Q311X	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	G	NM_178496		192516720	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	192516720	G	A	192516720	4	1	186	1	0	0	0	0	0	1	0	0	2242	1299	45	1	548	1	C3orf59	3	192516720	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	13580638	192516720	5505710	57	35980										
C3orf21	152002	genome.wustl.edu	37	chr3	194947580	194947580	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agcacagcaacatcgtggaaGatgacctgcagcaggtgcaa	12	10	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:194947580G>A	ENST00000310380.6	-	2	618	c.510C>T	c.(508-510)atC>atT	p.I170I	XXYLT1_ENST00000429994.1_Silent_p.I24I	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	170						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CATCGTGGAAGATGACCTGCA	0.542																																																	0													59	60	60					3																	194947580		2067	4205	6272	SO:0001819	synonymous_variant	152002			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"Glycosyltransferase family 8 domain containing"	26639	protein-coding gene	gene with protein product		614552	"chromosome 3 open reading frame 21"	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.510C>T	3.37:g.194947580G>A			D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	pfam_Glyco_trans_8	p.I170	ENST00000310380.6	37	c.510	CCDS43188.1	3																																																																																			XXYLT1	-	NULL		0.542	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XXYLT1	HGNC	protein_coding	OTTHUMT00000342290.1	G	NM_152531		194947580	-1	no_errors	ENST00000310380	ensembl	human	known	70_37	silent	SNP	0.950	A	A	194947580	G	A	194947580	2	1	186	1	0	0	0	0	0	0	0	1	2219	932	33	1		1	C3orf21	3	194947580	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2430860	194947580	3074850	58	35981										
TNK2	10188	genome.wustl.edu	37	chr3	195595033	195595033	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gcggtctgtgcggagctgggCggcttgcccccaccctgggg	18	14	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:195595033C>A	ENST00000333602.6	-	12	2708	c.2091G>T	c.(2089-2091)ccG>ccT	p.P697P	TNK2_ENST00000392400.1_Silent_p.P697P|TNK2_ENST00000381916.2_Silent_p.P775P|TNK2_ENST00000428187.1_Silent_p.P729P	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	697	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGGAGCTGGGCGGCTTGCCCC	0.711																																																	0													11	13	12					3																	195595033		2185	4274	6459	SO:0001819	synonymous_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2091G>T	3.37:g.195595033C>A			Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P775	ENST00000333602.6	37	c.2325	CCDS33928.1	3																																																																																			TNK2	-	NULL		0.711	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	C	NM_005781		195595033	-1	no_errors	ENST00000381916	ensembl	human	known	70_37	silent	SNP	0.050	A	A	195595033	C	A	195595033	2	1	186	1	0	0	0	0	0	0	0	1	16348	755	27	2		2	TNK2	3	195595033	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	647453	195595033	2427397	59	35982										
IQCG	84223	genome.wustl.edu	37	chr3	197619502	197619502	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cctaattccttccttaccatCtttgccaggtcttgaaggtg	7	12	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:197619502C>T	ENST00000265239.6	-	10	1516	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	RNU6-858P_ENST00000362436.1_RNA|IQCG_ENST00000455191.1_Silent_p.K364K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	364						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TCCTTACCATCTTTGCCAGGT	0.468																																																	0													352	319	330					3																	197619502		2203	4300	6503	SO:0001819	synonymous_variant	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1092G>A	3.37:g.197619502C>T			Q9BST2|Q9HAG8	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.K364	ENST00000265239.6	37	c.1092	CCDS3331.1	3																																																																																			IQCG	-	NULL		0.468	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	C	NM_032263		197619502	-1	no_errors	ENST00000265239	ensembl	human	known	70_37	silent	SNP	0.000	T	T	197619502	C	T	197619502	2	4	186	1	0	0	0	0	0	0	0	1	7830	912	32	1		1	IQCG	3	197619502	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2024469	197619502	402928	60	35983										
ADD1	118	genome.wustl.edu	37	chr4	2906605	2906605	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	actcctttgctagtgacggtGattcgggcacttgctcccca	10	13	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:2906605G>A	ENST00000398129.1	+	9	1296	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	ADD1_ENST00000264758.7_Missense_Mutation_p.D426N|ADD1_ENST00000355842.3_Missense_Mutation_p.D426N|ADD1_ENST00000398123.2_Missense_Mutation_p.D426N|ADD1_ENST00000503455.2_Missense_Mutation_p.D426N|ADD1_ENST00000513328.2_Missense_Mutation_p.D426N|ADD1_ENST00000398125.1_Missense_Mutation_p.D426N|ADD1_ENST00000446856.1_Missense_Mutation_p.D426N			P35611	ADDA_HUMAN	adducin 1 (alpha)	426					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAGTGACGGTGATTCGGGCAC	0.527																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													103	95	98					4																	2906605		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1276G>A	4.37:g.2906605G>A	ENSP00000381197:p.Asp426Asn		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.D426N	ENST00000398129.1	37	c.1276	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407268	0.83230	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.36	5.36	0.76844	.	0.091963	0.64402	D	0.000001	T	0.27454	0.0674	N	0.25890	0.77	0.80722	D	1	B;B;P;B;B;B	0.41041	0.255;0.288;0.736;0.338;0.449;0.082	B;B;B;P;B;B	0.44518	0.063;0.358;0.159;0.452;0.311;0.059	T	0.02632	-1.1131	10	0.52906	T	0.07	-29.0447	19.0947	0.93246	0.0:0.0:1.0:0.0	.	426;426;426;426;426;426	B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;ADDA_HUMAN;.;.;.	N	426	ENSP00000264758:D426N;ENSP00000399828:D426N;ENSP00000381193:D426N;ENSP00000421907:D426N;ENSP00000423024:D426N;ENSP00000348100:D426N;ENSP00000381191:D426N;ENSP00000381197:D426N	ENSP00000264758:D426N	D	+	1	0	ADD1	2876403	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	9.787000	0.99055	2.508000	0.84585	0.655000	0.94253	GAT	ADD1	-	NULL		0.527	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	G	NM_014189		2906605	1	no_errors	ENST00000264758	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2906605	G	A	2906605	3	1	186	1	0	0	0	0	1	0	0	0	304	1290	45	1	1310	1	ADD1	4	2906605	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		2906605	188247671	61	35984										
CLNK	116449	genome.wustl.edu	37	chr4	10509620	10509620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atgcctcttccactgcctggCggctgtattctccaatgtac	8	14	2	0	rs553669861		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:10509620C>T	ENST00000226951.6	-	17	1186	c.947G>A	c.(946-948)cGc>cAc	p.R316H	CLNK_ENST00000515667.1_Missense_Mutation_p.R54H	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	316	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CACTGCCTGGCGGCTGTATTC	0.403																																					GBM(87;402 1286 6949 13902 35851)												0													100	92	95					4																	10509620		1936	4145	6081	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.947G>A	4.37:g.10509620C>T	ENSP00000226951:p.Arg316His		Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R316H	ENST00000226951.6	37	c.947	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	C	16.29	3.083026	0.55861	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	D;D	0.93019	-3.15;-3.15	5.33	5.33	0.75918	SH2 motif (5);	0.079828	0.49916	D	0.000128	D	0.97832	0.9288	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98737	1.0715	10	0.87932	D	0	-21.3775	14.9056	0.70715	0.0:1.0:0.0:0.0	.	316	Q7Z7G1	CLNK_HUMAN	H	316;54;280	ENSP00000226951:R316H;ENSP00000427256:R54H	ENSP00000226951:R316H	R	-	2	0	CLNK	10118718	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	3.835000	0.55805	2.653000	0.90120	0.561000	0.74099	CGC	CLNK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.403	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	C	NM_052964		10509620	-1	no_errors	ENST00000226951	ensembl	human	known	70_37	missense	SNP	1.000	T	T	10509620	C	T	10509620	3	4	186	1	0	0	0	0	1	0	0	0	3552	768	27	2	351	2	CLNK	4	10509620	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	7603015	10509620	180644656	62	35985										
CLNK	116449	genome.wustl.edu	37	chr4	10542129	10542129	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atctctcacctgggcattctCtggacttctggaaaggtgtg	11	10	4	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:10542129C>G	ENST00000226951.6	-	11	830	c.591G>C	c.(589-591)caG>caC	p.Q197H	CLNK_ENST00000507719.1_Missense_Mutation_p.Q155H|CLNK_ENST00000442825.2_Missense_Mutation_p.Q155H	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	197					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGGGCATTCTCTGGACTTCTG	0.522																																					GBM(87;402 1286 6949 13902 35851)												0													79	80	80					4																	10542129		1990	4165	6155	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.591G>C	4.37:g.10542129C>G	ENSP00000226951:p.Gln197His		Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.Q197H	ENST00000226951.6	37	c.591	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470383	0.43942	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.47177	1.83;0.85;0.85	5.68	-3.8	0.04307	.	1.263120	0.05653	N	0.585613	T	0.45518	0.1346	L	0.32530	0.975	0.09310	N	1	B;D	0.62365	0.009;0.991	B;P	0.54270	0.01;0.747	T	0.50154	-0.8861	10	0.45353	T	0.12	0.0136	7.7867	0.29095	0.0:0.2045:0.4896:0.3059	.	155;197	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	H	197;161;155;155	ENSP00000226951:Q197H;ENSP00000390744:Q155H;ENSP00000427208:Q155H	ENSP00000226951:Q197H	Q	-	3	2	CLNK	10151227	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.135000	0.10420	-0.459000	0.07013	-0.878000	0.02970	CAG	CLNK	-	NULL		0.522	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	C	NM_052964		10542129	-1	no_errors	ENST00000226951	ensembl	human	known	70_37	missense	SNP	0.000	G	G	10542129	C	G	10542129	3	3	186	1	0	0	0	0	1	0	0	0	3552	912	32	1	731	1	CLNK	4	10542129	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	32509	10542129	180612147	63	35986										
EPHA5	2044	genome.wustl.edu	37	chr4	66467429	66467429	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccgatgggcaccagccactcCccttcggcgctgcagtgcat	11	17	0	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:66467429C>A	ENST00000273854.3	-	3	1440	c.840G>T	c.(838-840)ggG>ggT	p.G280G	EPHA5_ENST00000432638.2_Silent_p.G280G|EPHA5_ENST00000354839.4_Silent_p.G280G|EPHA5_ENST00000511294.1_Silent_p.G280G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	280	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCAGCCACTCCCCTTCGGCGC	0.532										TSP Lung(17;0.13)																																							0													77	80	79					4																	66467429		2203	4300	6503	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.840G>T	4.37:g.66467429C>A			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G280	ENST00000273854.3	37	c.840	CCDS3513.1	4																																																																																			EPHA5	-	pirsf_Tyr_kinase_ephrin_rcpt		0.532	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	C	NM_004439		66467429	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	silent	SNP	1.000	A	A	66467429	C	A	66467429	2	1	186	1	0	0	0	0	0	0	0	1	5182	610	22	4		4	EPHA5	4	66467429	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	55925300	66467429	124686847	64	35987										
UGT2B7	7364	genome.wustl.edu	37	chr4	69962710	69962710	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atgctatttttccctgtagtGagctgctggctgagctattt	10	8	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:69962710G>A	ENST00000508661.1	+	1	499	c.472G>A	c.(472-474)Gag>Aag	p.E158K	UGT2B7_ENST00000305231.7_Missense_Mutation_p.E158K|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	158					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCCTGTAGTGAGCTGCTGGC	0.368																																																	0													137	137	137					4																	69962710		2203	4299	6502	SO:0001583	missense	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.472G>A	4.37:g.69962710G>A	ENSP00000427659:p.Glu158Lys		B2R810|Q6GTW0	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E158K	ENST00000508661.1	37	c.472		4	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055578	0.55325	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60548	0.18;0.18	2.54	2.54	0.30619	.	0.081913	0.47852	U	0.000201	T	0.77116	0.4083	M	0.92604	3.325	0.26437	N	0.975838	P;P	0.51147	0.942;0.736	P;P	0.62435	0.902;0.641	T	0.69665	-0.5084	9	.	.	.	.	10.7765	0.46353	0.0:0.0:1.0:0.0	.	158;158	E9PBP8;P16662	.;UD2B7_HUMAN	K	158	ENSP00000304811:E158K;ENSP00000427659:E158K	.	E	+	1	0	UGT2B7	69997299	1.000000	0.71417	0.539000	0.28077	0.027000	0.11550	5.430000	0.66501	1.408000	0.46895	0.313000	0.20887	GAG	UGT2B7	-	pfam_UDP_glucos_trans		0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	UGT2B7	HGNC	protein_coding	OTTHUMT00000362103.1	G	NM_001074		69962710	1	no_errors	ENST00000305231	ensembl	human	known	70_37	missense	SNP	0.997	A	A	69962710	G	A	69962710	3	1	186	1	0	0	0	0	1	0	0	0	16993	1291	45	1	474	1	UGT2B7	4	69962710	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3495281	69962710	121191566	65	35988										
FRAS1	80144	genome.wustl.edu	37	chr4	79353577	79353577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tatacatgatggttcctctaCccgggaagacagcatggaga	11	9	1	3	rs370360459		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:79353577C>T	ENST00000325942.6	+	38	5476	c.5036C>T	c.(5035-5037)aCc>aTc	p.T1679I	FRAS1_ENST00000264895.6_Missense_Mutation_p.T1679I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1679					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGTTCCTCTACCCGGGAAGAC	0.473																																																	0													63	63	63					4																	79353577		1958	4148	6106	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5036C>T	4.37:g.79353577C>T	ENSP00000326330:p.Thr1679Ile		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.T1679I	ENST00000325942.6	37	c.5036	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400550	0.25291	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316	T;T	0.35973	1.28;1.28	6.17	5.34	0.76211	.	0.365346	0.31145	N	0.008167	T	0.34745	0.0908	L	0.46819	1.47	0.80722	D	1	B;B	0.24823	0.075;0.112	B;B	0.21546	0.035;0.022	T	0.08973	-1.0696	10	0.48119	T	0.1	.	15.5517	0.76158	0.0:0.9345:0.0:0.0655	.	1679;1679	E9PHH6;A2RRR8	.;.	I	1679;1679;99	ENSP00000326330:T1679I;ENSP00000264895:T1679I	ENSP00000264895:T1679I	T	+	2	0	FRAS1	79572601	0.775000	0.28604	0.066000	0.19879	0.003000	0.03518	3.531000	0.53546	1.635000	0.50512	0.655000	0.94253	ACC	FRAS1	-	NULL		0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	C			79353577	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.061	T	T	79353577	C	T	79353577	3	4	186	1	0	0	0	0	1	0	0	0	6060	507	18	4	5186	4	FRAS1	4	79353577	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	9390867	79353577	111800699	66	35989										
NAA15	80155	genome.wustl.edu	37	chr4	140281017	140281017	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	taaaagccaacctgattaaaGaagctgaagaaatgtgctca	8	7	1	4	rs367731445		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:140281017G>A	ENST00000296543.5	+	12	1701	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	NAA15_ENST00000398947.1_Missense_Mutation_p.E460K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	460					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCTGATTAAAGAAGCTGAAGA	0.398																																																	0								G	LYS/GLU	0,3800		0,0,1900	79	76	77		1378	5.9	1	4		77	1,8277		0,1,4138	no	missense	NAA15	NM_057175.3	56	0,1,6038	AA,AG,GG		0.0121,0.0,0.0083	benign	460/867	140281017	1,12077	1900	4139	6039	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1378G>A	4.37:g.140281017G>A	ENSP00000296543:p.Glu460Lys		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E460K	ENST00000296543.5	37	c.1378	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426366	0.83667	0.0	1.21E-4	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.54071	0.59;0.59	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	N	0.24115	0.695	0.80722	D	1	B	0.17852	0.024	B	0.24269	0.052	T	0.23833	-1.0177	10	0.17832	T	0.49	-13.5148	20.1951	0.98241	0.0:0.0:1.0:0.0	.	460	Q9BXJ9	NAA15_HUMAN	K	460;334;460	ENSP00000296543:E460K;ENSP00000381920:E460K	ENSP00000296543:E460K	E	+	1	0	NAA15	140500467	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.345000	0.97053	2.780000	0.95670	0.585000	0.79938	GAA	NAA15	-	pirsf_NatA_aux_su		0.398	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140281017	1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140281017	G	A	140281017	3	1	186	1	0	0	0	0	1	0	0	0	10141	943	33	1	1424	1	NAA15	4	140281017	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	60927440	140281017	50873259	67	35990										
MAP9	79884	genome.wustl.edu	37	chr4	156283223	156283223	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttccagatgcgtttccctcaGatcctggtgaaaaagaatct	8	10	2	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:156283223G>A	ENST00000311277.4	-	6	1042	c.779C>T	c.(778-780)tCt>tTt	p.S260F	AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S260F|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000594666.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	260					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTTCCCTCAGATCCTGGTGA	0.328																																																	0													90	94	93					4																	156283223		2203	4300	6503	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.779C>T	4.37:g.156283223G>A	ENSP00000310593:p.Ser260Phe		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.S260F	ENST00000311277.4	37	c.779	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849699	0.51270	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.34275	2.09;1.9;1.37	5.43	3.68	0.42216	.	0.417995	0.23396	N	0.048630	T	0.51210	0.1661	M	0.69823	2.125	0.21604	N	0.999628	B;D;D	0.63880	0.011;0.993;0.993	B;D;D	0.63192	0.017;0.912;0.912	T	0.38779	-0.9645	10	0.44086	T	0.13	-0.1202	7.7949	0.29141	0.0878:0.1634:0.7488:0.0	.	259;260;260	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	F	260;260;259;260	ENSP00000310593:S260F;ENSP00000427402:S260F;ENSP00000394048:S259F	ENSP00000310593:S260F	S	-	2	0	MAP9	156502673	0.518000	0.26234	0.168000	0.22838	0.912000	0.54170	1.848000	0.39309	0.750000	0.32877	0.655000	0.94253	TCT	MAP9	-	NULL		0.328	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	G	NM_001039580		156283223	-1	no_errors	ENST00000311277	ensembl	human	known	70_37	missense	SNP	0.306	A	A	156283223	G	A	156283223	3	1	186	1	0	0	0	0	1	0	0	0	9293	942	33	1	1200	1	MAP9	4	156283223	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	16002206	156283223	34871053	68	35991										
DDX60	55601	genome.wustl.edu	37	chr4	169196651	169196651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cacttttacatcattttctgCatcctgcattattttaaaag	3	9	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:169196651C>T	ENST00000393743.3	-	16	2440	c.2149G>A	c.(2149-2151)Gca>Aca	p.A717T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	717					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCATTTTCTGCATCCTGCATT	0.313																																																	0													63	60	61					4																	169196651		2203	4300	6503	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2149G>A	4.37:g.169196651C>T	ENSP00000377344:p.Ala717Thr		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A717T	ENST00000393743.3	37	c.2149	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084842	0.20309	.	.	ENSG00000137628	ENST00000393743	T	0.18174	2.23	5.19	-3.1	0.05315	.	1.430170	0.04125	N	0.317025	T	0.13243	0.0321	L	0.42245	1.32	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.30268	-0.9984	10	0.18710	T	0.47	.	6.4871	0.22095	0.205:0.3051:0.0:0.4898	.	717	Q8IY21	DDX60_HUMAN	T	717	ENSP00000377344:A717T	ENSP00000377344:A717T	A	-	1	0	DDX60	169433226	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.837000	0.01689	-0.644000	0.05465	-0.253000	0.11424	GCA	DDX60	-	NULL		0.313	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169196651	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.000	T	T	169196651	C	T	169196651	3	4	186	1	0	0	0	0	1	0	0	0	4383	710	25	4	3081	4	DDX60	4	169196651	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	12913428	169196651	21957625	69	35992										
MAP3K1	4214	genome.wustl.edu	37	chr5	56177460	56177460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	attgataattcccactcaatGgttggcaaactttccagaag	7	9	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:56177460G>T	ENST00000399503.3	+	14	2433	c.2433G>T	c.(2431-2433)atG>atT	p.M811I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	811					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CCCACTCAATGGTTGGCAAAC	0.383																																																	0													106	96	99					5																	56177460		1861	4093	5954	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2433G>T	5.37:g.56177460G>T	ENSP00000382423:p.Met811Ile			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.M811I	ENST00000399503.3	37	c.2433	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357438	0.41801	.	.	ENSG00000095015	ENST00000399503	T	0.34072	1.38	5.56	5.56	0.83823	.	0.086182	0.85682	D	0.000000	T	0.38532	0.1044	L	0.51422	1.61	0.58432	D	0.999998	B	0.13145	0.007	B	0.08055	0.003	T	0.13899	-1.0492	10	0.56958	D	0.05	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	811	Q13233	M3K1_HUMAN	I	811	ENSP00000382423:M811I	ENSP00000382423:M811I	M	+	3	0	MAP3K1	56213217	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.344000	0.72991	2.778000	0.95560	0.655000	0.94253	ATG	MAP3K1	-	NULL		0.383	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	G	XM_042066		56177460	1	no_errors	ENST00000399503	ensembl	human	novel	70_37	missense	SNP	1.000	T	T	56177460	G	T	56177460	3	4	186	1	0	0	0	0	1	0	0	0	9266	1348	47	4	2487	4	MAP3K1	5	56177460	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		56177460	124737800	70	35993										
PDE8B	8622	genome.wustl.edu	37	chr5	76633065	76633065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttttcagagatttatggagaAtagcagcataattgcttgct	9	5	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:76633065A>C	ENST00000264917.5	+	6	767	c.722A>C	c.(721-723)aAt>aCt	p.N241T	PDE8B_ENST00000340978.3_Missense_Mutation_p.N241T|PDE8B_ENST00000346042.3_Missense_Mutation_p.N241T|PDE8B_ENST00000333194.4_Missense_Mutation_p.N241T|PDE8B_ENST00000342343.4_Missense_Mutation_p.N221T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	241					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TTTATGGAGAATAGCAGCATA	0.333																																																	0													69	68	68					5																	76633065		2203	4299	6502	SO:0001583	missense	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.722A>C	5.37:g.76633065A>C	ENSP00000264917:p.Asn241Thr		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.N241T	ENST00000264917.5	37	c.722	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	A	17.41	3.382127	0.61845	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	T;T;T;T;T;T	0.79141	1.02;1.02;1.02;1.02;1.02;-1.24	5.95	5.95	0.96441	Signal transduction response regulator, receiver domain (1);	0.044428	0.85682	D	0.000000	D	0.84474	0.5480	L	0.49350	1.555	0.80722	D	1	D;D;D;D;D	0.76494	0.991;0.985;0.999;0.959;0.967	D;P;D;P;P	0.74023	0.938;0.828;0.982;0.749;0.838	D	0.83786	0.0228	10	0.40728	T	0.16	.	15.4063	0.74881	1.0:0.0:0.0:0.0	.	241;241;241;221;241	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	241;241;241;221;241;3	ENSP00000345446:N241T;ENSP00000330428:N241T;ENSP00000264917:N241T;ENSP00000345646:N221T;ENSP00000331336:N241T;ENSP00000422861:N3T	ENSP00000264917:N241T	N	+	2	0	PDE8B	76668821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.382000	0.79729	2.279000	0.76181	0.533000	0.62120	AAT	PDE8B	-	pfam_Sig_transdc_resp-reg_receiver		0.333	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	A	NM_003719		76633065	1	no_errors	ENST00000264917	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76633065	A	C	76633065	3	2	186	1	0	0	0	0	1	0	0	0	11678	101	4	5	744	5	PDE8B	5	76633065	Missense_Mutation	SNP	A	TCGA-Q1-A73P-01A-11D-A32I-09	20455605	76633065	104282195	71	35994										
MCC	4163	genome.wustl.edu	37	chr5	112418618	112418618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gctttctgagatggcagatcCgtgtgagtagagtgtttgga	15	5	1	4	rs369310896		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:112418618C>T	ENST00000302475.4	-	9	1716	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.G575R|MCC_ENST00000515367.2_Missense_Mutation_p.G322R	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	385					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATGGCAGATCCGTGTGAGTAG	0.478																																																	0								C	ARG/GLY,ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	221	190	200		1723,1153	4.9	1	5		200	0,8600		0,0,4300	no	missense,missense	MCC	NM_001085377.1,NM_002387.2	125,125	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	575/1020,385/830	112418618	1,13003	2202	4300	6502	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1153G>A	5.37:g.112418618C>T	ENSP00000305617:p.Gly385Arg		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.G385R	ENST00000302475.4	37	c.1153	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511566	0.85389	2.27E-4	0.0	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.40756	2.19;2.19;1.02	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.87578	0.996;0.956;0.998;0.928	T	0.51204	-0.8735	10	0.36615	T	0.2	-17.2064	18.4913	0.90849	0.0:1.0:0.0:0.0	.	385;347;575;385	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	R	385;322;575	ENSP00000305617:G385R;ENSP00000421615:G322R;ENSP00000386227:G575R	ENSP00000305617:G385R	G	-	1	0	MCC	112446517	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	6.180000	0.71981	2.433000	0.82419	0.467000	0.42956	GGA	MCC	-	NULL		0.478	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377		112418618	-1	no_errors	ENST00000302475	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112418618	C	T	112418618	3	4	186	1	0	0	0	0	1	0	0	0	9396	661	23	2	1372	2	MCC	5	112418618	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	35785553	112418618	68496642	72	35995										
TRIM36	55521	genome.wustl.edu	37	chr5	114466485	114466485	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gatgcgttctgcagcaagcaGaagattaaatccagctctac	9	10	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:114466485G>A	ENST00000282369.3	-	9	1757	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	TRIM36_ENST00000513154.1_Silent_p.L534L|TRIM36_ENST00000514154.1_Silent_p.L391L	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	546	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCAGCAAGCAGAAGATTAAAT	0.423																																																	0													149	142	145					5																	114466485		2202	4300	6502	SO:0001819	synonymous_variant	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1636C>T	5.37:g.114466485G>A			A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L546	ENST00000282369.3	37	c.1636	CCDS4115.1	5																																																																																			TRIM36	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.423	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	G	NM_018700		114466485	-1	no_errors	ENST00000282369	ensembl	human	known	70_37	silent	SNP	0.997	A	A	114466485	G	A	114466485	2	1	186	1	0	0	0	0	0	0	0	1	16541	933	33	1		1	TRIM36	5	114466485	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2047867	114466485	66448775	73	35996										
ANKHD1	54882	genome.wustl.edu	37	chr5	139876458	139876458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccaaaggtcagaaagacacaGtgtctctacaccaacagtgc	8	12	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:139876458G>T	ENST00000360839.2	+	15	2753	c.2599G>T	c.(2599-2601)Gtg>Ttg	p.V867L	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V867L|ANKHD1_ENST00000297183.6_Missense_Mutation_p.V867L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	867						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGACACAGTGTCTCTACA	0.438																																																	0													102	102	102					5																	139876458		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2599G>T	5.37:g.139876458G>T	ENSP00000354085:p.Val867Leu		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.V867L	ENST00000360839.2	37	c.2599	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	G	7.206	0.594500	0.13875	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.62232	0.08;0.04;0.07;0.04	5.46	4.47	0.54385	Ankyrin repeat-containing domain (1);	0.876682	0.09774	N	0.757623	T	0.25901	0.0631	N	0.01352	-0.895	0.20196	N	0.999928	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46247	-0.9205	10	0.06236	T	0.91	.	3.3361	0.07102	0.0893:0.1948:0.5212:0.1946	.	867;867;867	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	L	867;900;867;867;401;886;867	ENSP00000354085:V867L;ENSP00000297183:V867L;ENSP00000394489:V886L;ENSP00000432016:V867L	ENSP00000432016:V867L	V	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139856642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.745000	0.26259	2.713000	0.92767	0.585000	0.79938	GTG	ANKHD1	-	pfscan_Ankyrin_rpt-contain_dom		0.438	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	G	NM_017747		139876458	1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	0.906	T	T	139876458	G	T	139876458	3	4	186	1	0	0	0	0	1	0	0	0	628	1029	36	4	2763	4	ANKHD1	5	139876458	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	25409973	139876458	41038802	74	35997										
PCDHA12	56137	genome.wustl.edu	37	chr5	140256735	140256735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgttcgtgctggacgagaacGacaacgcgccggcactgctg	14	12	0	1	rs370292278		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:140256735G>A	ENST00000398631.2	+	1	1678	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	560	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGAGAACGACAACGCGCC	0.701																																					Pancreas(113;759 1672 13322 24104 50104)												0													149	154	152					5																	140256735		2203	4299	6502	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1678G>A	5.37:g.140256735G>A	ENSP00000381628:p.Asp560Asn		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D560N	ENST00000398631.2	37	c.1678	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893058	0.72524	.	.	ENSG00000251664	ENST00000398631	T	0.64085	-0.08	4.92	4.92	0.64577	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85553	0.5723	H	0.95574	3.69	0.45161	D	0.998172	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.90382	0.4389	9	0.87932	D	0	.	17.695	0.88278	0.0:0.0:1.0:0.0	.	560;560	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	N	560	ENSP00000381628:D560N	ENSP00000381628:D560N	D	+	1	0	PCDHA12	140236919	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	9.189000	0.94928	2.271000	0.75665	0.561000	0.74099	GAC	PCDHA12	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	G	NM_018903		140256735	1	no_errors	ENST00000398631	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140256735	G	A	140256735	3	1	186	1	0	0	0	0	1	0	0	0	11546	1058	37	1	1680	1	PCDHA12	5	140256735	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	380277	140256735	40658525	75	35998										
JAKMIP2	9832	genome.wustl.edu	37	chr5	147040859	147040859	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atttcctgctcgtgctgcttGataaggttctccctcacagc	8	13	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:147040859G>C	ENST00000265272.5	-	3	746	c.279C>G	c.(277-279)atC>atG	p.I93M	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I93M|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I51M	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	93						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGCTTGATAAGGTTCT	0.562																																																	0													193	178	183					5																	147040859		2203	4300	6503	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.279C>G	5.37:g.147040859G>C	ENSP00000265272:p.Ile93Met		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.I93M	ENST00000265272.5	37	c.279	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481755	0.44147	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.37752	1.18;1.18;1.18	4.67	3.79	0.43588	.	0.048908	0.85682	D	0.000000	T	0.33381	0.0861	L	0.52573	1.65	0.37453	D	0.914883	P;D;D;P	0.54207	0.936;0.965;0.965;0.936	B;B;B;B	0.41946	0.371;0.371;0.371;0.371	T	0.41645	-0.9497	10	0.45353	T	0.12	.	13.2515	0.60053	0.0787:0.0:0.9213:0.0	.	51;93;93;93	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	M	93;93;51;93	ENSP00000421398:I93M;ENSP00000265272:I93M;ENSP00000328989:I51M	ENSP00000265272:I93M	I	-	3	3	JAKMIP2	147021052	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.939000	0.40213	1.269000	0.44280	0.563000	0.77884	ATC	JAKMIP2	-	NULL		0.562	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	G	NM_014790		147040859	-1	no_errors	ENST00000265272	ensembl	human	known	70_37	missense	SNP	1.000	C	C	147040859	G	C	147040859	3	2	186	1	0	0	0	0	1	0	0	0	7961	1280	45	1	2229	1	JAKMIP2	5	147040859	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	6784124	147040859	33874401	76	35999										
AFAP1L1	134265	genome.wustl.edu	37	chr5	148697431	148697431	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgcaaggctgtgaggtggcCccgggctttgggccccgaca	16	13	0	1	rs143485535	byFrequency	TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:148697431C>A	ENST00000296721.4	+	12	1505	c.1407C>A	c.(1405-1407)gcC>gcA	p.A469A	AFAP1L1_ENST00000515000.1_Silent_p.A469A	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	469	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGTGGCCCCGGGCTTTG	0.622																																																	0													47	36	40					5																	148697431		2203	4299	6502	SO:0001819	synonymous_variant	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1407C>A	5.37:g.148697431C>A			Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A469	ENST00000296721.4	37	c.1407	CCDS34274.1	5																																																																																			AFAP1L1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.622	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	C	NM_152406		148697431	1	no_errors	ENST00000296721	ensembl	human	known	70_37	silent	SNP	0.967	A	A	148697431	C	A	148697431	2	1	186	1	0	0	0	0	0	0	0	1	354	610	22	4		4	AFAP1L1	5	148697431	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1656572	148697431	32217829	77	36000										
TCOF1	6949	genome.wustl.edu	37	chr5	149776211	149776211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgtttccccagaaaagacctCcacgacttccaaggggaaag	9	12	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:149776211C>T	ENST00000504761.2	+	24	4148	c.4148C>T	c.(4147-4149)tCc>tTc	p.S1383F	TCOF1_ENST00000451292.1_Missense_Mutation_p.S1420F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S1306F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S1307F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1346F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1384F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1383F			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1383					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAAGACCTCCACGACTTCC	0.587																																																	0													21	20	20					5																	149776211		2202	4300	6502	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.4148C>T	5.37:g.149776211C>T	ENSP00000421655:p.Ser1383Phe		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.S1420F	ENST00000504761.2	37	c.4259	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879244	0.33162	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.76448	-1.01;-1.02;-1.02;-1.02;-1.01;-1.0;-1.01;-1.02	4.59	2.65	0.31530	.	0.578181	0.14622	N	0.308330	T	0.68504	0.3008	L	0.29908	0.895	0.09310	N	1	P;P;P;P;P	0.49961	0.815;0.815;0.815;0.93;0.815	B;B;B;P;B	0.47673	0.41;0.329;0.41;0.554;0.329	T	0.58808	-0.7571	10	0.52906	T	0.07	-1.4913	5.9774	0.19389	0.0:0.7014:0.1928:0.1058	.	1346;1306;1345;1383;1307	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	F	1420;1384;1307;1306;1346;1345;1383;1383	ENSP00000400939:S1420F;ENSP00000367028:S1384F;ENSP00000409944:S1307F;ENSP00000325223:S1306F;ENSP00000406888:S1346F;ENSP00000390717:S1345F;ENSP00000421655:S1383F;ENSP00000427484:S1383F	ENSP00000325223:S1306F	S	+	2	0	TCOF1	149756404	0.012000	0.17670	0.480000	0.27341	0.386000	0.30323	1.230000	0.32612	1.061000	0.40601	0.561000	0.74099	TCC	TCOF1	-	NULL		0.587	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	C	NM_001008656		149776211	1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.085	T	T	149776211	C	T	149776211	3	4	186	1	0	0	0	0	1	0	0	0	15738	855	30	1	4267	1	TCOF1	5	149776211	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1078780	149776211	31139049	78	36001										
FAM114A2	10827	genome.wustl.edu	37	chr5	153377387	153377387	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gcagttgttaggcaggtagtGaactctttagacagagagga	14	5	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:153377387G>C	ENST00000351797.4	-	12	1381	c.1305C>G	c.(1303-1305)ttC>ttG	p.F435L	FAM114A2_ENST00000518946.1_5'Flank|FAM114A2_ENST00000522858.1_Missense_Mutation_p.F435L|FAM114A2_ENST00000520667.1_Missense_Mutation_p.F435L|FAM114A2_ENST00000520313.1_Missense_Mutation_p.F365L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	435							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GGCAGGTAGTGAACTCTTTAG	0.338																																																	0													243	254	250					5																	153377387		2203	4300	6503	SO:0001583	missense	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 3"	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1305C>G	5.37:g.153377387G>C	ENSP00000341597:p.Phe435Leu		B2R8D8|Q9H7E0	Missense_Mutation	SNP	pfam_DUF719	p.F435L	ENST00000351797.4	37	c.1305	CCDS4323.1	5	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561637	0.65538	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.37235	1.43;1.43;1.43;1.21	5.31	0.685	0.18009	.	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.83384	2.64	0.50313	D	0.999862	D;D	0.60160	0.968;0.987	P;P	0.50405	0.53;0.64	T	0.49360	-0.8948	10	0.72032	D	0.01	-13.179	8.1645	0.31217	0.4961:0.0:0.5039:0.0	.	365;435	E7ESJ7;Q9NRY5	.;F1142_HUMAN	L	435;435;435;365	ENSP00000341597:F435L;ENSP00000430489:F435L;ENSP00000430384:F435L;ENSP00000429088:F365L	ENSP00000341597:F435L	F	-	3	2	FAM114A2	153357580	0.609000	0.26975	1.000000	0.80357	0.993000	0.82548	-0.503000	0.06383	0.169000	0.19679	-0.137000	0.14449	TTC	FAM114A2	-	NULL		0.338	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	G	NM_018691		153377387	-1	no_errors	ENST00000351797	ensembl	human	known	70_37	missense	SNP	0.996	C	C	153377387	G	C	153377387	3	2	186	1	0	0	0	0	1	0	0	0	5419	1281	45	1	224	1	FAM114A2	5	153377387	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3601176	153377387	27537873	79	36002										
GEMIN5	25929	genome.wustl.edu	37	chr5	154272083	154272083	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tggctcagcactgccagggtCaagtcatggcaaatgtgaag	13	9	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:154272083C>T	ENST00000285873.7	-	25	3699	c.3624G>A	c.(3622-3624)ttG>ttA	p.L1208L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1208					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCCAGGGTCAAGTCATGGC	0.587																																																	0													57	52	54					5																	154272083		2203	4300	6503	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3624G>A	5.37:g.154272083C>T			Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L1208	ENST00000285873.7	37	c.3624	CCDS4330.1	5																																																																																			GEMIN5	-	NULL		0.587	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	C			154272083	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	silent	SNP	1.000	T	T	154272083	C	T	154272083	2	4	186	1	0	0	0	0	0	0	0	1	6350	825	29	1		1	GEMIN5	5	154272083	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	894696	154272083	26643177	80	36003										
GEMIN5	25929	genome.wustl.edu	37	chr5	154317604	154317604	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aagacggaggtccgcgcggcGaagccaaagaggcccccggg	17	13	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:154317604G>A	ENST00000285873.7	-	1	165	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	30					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCGCGCGGCGAAGCCAAAGA	0.706																																																	0													11	13	12					5																	154317604		2190	4285	6475	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.90C>T	5.37:g.154317604G>A			Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F30	ENST00000285873.7	37	c.90	CCDS4330.1	5																																																																																			GEMIN5	-	NULL		0.706	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	G			154317604	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	silent	SNP	1.000	A	A	154317604	G	A	154317604	2	1	186	1	0	0	0	0	0	0	0	1	6350	1049	37	1		1	GEMIN5	5	154317604	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	45521	154317604	26597656	81	36004										
CCNJL	79616	genome.wustl.edu	37	chr5	159680542	159680542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	acatatccaagggctgcagcGgttggtacggggtgtggagg	18	7	0	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:159680542G>A	ENST00000393977.3	-	7	1436	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	CCNJL_ENST00000257536.7_Missense_Mutation_p.P336L|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	384						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCTGCAGCGGTTGGTACGG	0.622																																																	0													75	82	80					5																	159680542		2128	4242	6370	SO:0001583	missense	79616			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1151C>T	5.37:g.159680542G>A	ENSP00000377547:p.Pro384Leu		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P384L	ENST00000393977.3	37	c.1151	CCDS4350.2	5	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974321	0.18736	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.31510	1.9;1.49	5.2	5.2	0.72013	.	0.825043	0.11051	N	0.605084	T	0.26521	0.0648	N	0.22421	0.69	0.80722	D	1	B;B	0.22800	0.012;0.075	B;B	0.17433	0.018;0.014	T	0.05954	-1.0854	10	0.62326	D	0.03	-2.6317	16.5031	0.84262	0.0:0.0:1.0:0.0	.	336;384	B4DZA8;Q8IV13	.;CCNJL_HUMAN	L	384;336	ENSP00000377547:P384L;ENSP00000257536:P336L	ENSP00000257536:P336L	P	-	2	0	CCNJL	159613120	1.000000	0.71417	0.179000	0.23059	0.008000	0.06430	6.164000	0.71885	2.421000	0.82119	0.655000	0.94253	CCG	CCNJL	-	NULL		0.622	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	G	NM_024565		159680542	-1	no_errors	ENST00000393977	ensembl	human	known	70_37	missense	SNP	0.160	A	A	159680542	G	A	159680542	3	1	186	1	0	0	0	0	1	0	0	0	2934	1116	39	2	160	2	CCNJL	5	159680542	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	5362938	159680542	21234718	82	36005										
FOXI1	2299	genome.wustl.edu	37	chr5	169533237	169533237	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccccaggcctatggagtgcaGaggccgctgctgcccagcgt	14	15	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:169533237G>A	ENST00000306268.6	+	1	337	c.276G>A	c.(274-276)caG>caA	p.Q92Q	FOXI1_ENST00000449804.2_Silent_p.Q92Q			Q12951	FOXI1_HUMAN	forkhead box I1	92	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGAGTGCAGAGGCCGCTGC	0.706									Pendred syndrome																																								0													8	7	8					5																	169533237		2182	4251	6433	SO:0001819	synonymous_variant	2299	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.276G>A	5.37:g.169533237G>A			Q14518|Q66SR7|Q8N6L8	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q92	ENST00000306268.6	37	c.276	CCDS4372.1	5																																																																																			FOXI1	-	NULL		0.706	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI1	HGNC	protein_coding	OTTHUMT00000252827.2	G	NM_144769, NM_012188		169533237	1	no_errors	ENST00000306268	ensembl	human	known	70_37	silent	SNP	1.000	A	A	169533237	G	A	169533237	2	1	186	1	0	0	0	0	0	0	0	1	6027	933	33	1		1	FOXI1	5	169533237	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	9852695	169533237	11382023	83	36006										
PECI	10455	genome.wustl.edu	37	chr6	4116258	4116258	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	attacctcttttgaaattctCaaggcctggaaaaacaaaac	5	9	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:4116258C>A	ENST00000380118.3	-	10	1071	c.1035G>T	c.(1033-1035)ttG>ttT	p.L345F	C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000465828.1_Missense_Mutation_p.L315F|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Missense_Mutation_p.L178F|ECI2_ENST00000380125.2_Missense_Mutation_p.L315F|ECI2_ENST00000361538.2_Missense_Mutation_p.L315F			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	345					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TTGAAATTCTCAAGGCCTGGA	0.463																																																	0													77	71	73					6																	4116258		2203	4300	6503	SO:0001583	missense	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.1035G>T	6.37:g.4116258C>A	ENSP00000369461:p.Leu345Phe		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.L345F	ENST00000380118.3	37	c.1035	CCDS43420.2	6	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460442	0.84317	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.44	5.44	0.79542	.	0.332477	0.36338	N	0.002647	D	0.85035	0.5605	H	0.96048	3.76	0.49299	D	0.999776	P	0.48834	0.916	P	0.54372	0.75	D	0.89402	0.3696	10	0.72032	D	0.01	.	17.8336	0.88689	0.0:1.0:0.0:0.0	.	345	O75521	ECI2_HUMAN	F	345;315;178;315;315	ENSP00000369461:L345F;ENSP00000369468:L315F;ENSP00000406969:L178F;ENSP00000354737:L315F;ENSP00000420309:L315F	ENSP00000354737:L315F	L	-	3	2	ECI2	4061257	1.000000	0.71417	0.913000	0.36048	0.857000	0.48899	4.684000	0.61686	2.536000	0.85505	0.655000	0.94253	TTG	ECI2	-	NULL		0.463	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	C	NM_006117		4116258	-1	no_errors	ENST00000380118	ensembl	human	known	70_37	missense	SNP	0.980	A	A	4116258	C	A	4116258	3	1	186	1	0	0	0	0	1	0	0	0	11740	825	29	3	153	3	PECI	6	4116258	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		4116258	166998809	84	36007										
ATXN1	6310	genome.wustl.edu	37	chr6	16327578	16327578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	catctcaccgttcaggacctCcttggcctggatggcctgct	10	15	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:16327578C>G	ENST00000244769.4	-	8	1900	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.E322Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	322					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCAGGACCTCCTTGGCCTGG	0.667																																																	0													40	46	44					6																	16327578		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.964G>C	6.37:g.16327578C>G	ENSP00000244769:p.Glu322Gln		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E322Q	ENST00000244769.4	37	c.964	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526276	0.85600	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.35789	1.29;1.29	4.94	4.94	0.65067	.	0.101306	0.64402	D	0.000002	T	0.51550	0.1681	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.52094	-0.8621	10	0.46703	T	0.11	-24.8775	18.1709	0.89745	0.0:1.0:0.0:0.0	.	322	P54253	ATX1_HUMAN	Q	322	ENSP00000244769:E322Q;ENSP00000416360:E322Q	ENSP00000244769:E322Q	E	-	1	0	ATXN1	16435557	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.252000	0.78309	2.283000	0.76528	0.462000	0.41574	GAG	ATXN1	-	NULL		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	C	NM_000332		16327578	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	1.000	G	G	16327578	C	G	16327578	3	3	186	1	0	0	0	0	1	0	0	0	1210	864	30	1	1491	1	ATXN1	6	16327578	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	12211320	16327578	154787489	85	36008										
KIF13A	63971	genome.wustl.edu	37	chr6	17831361	17831361	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ataaaccagaagttcgttaaGagcagggtctgcattcagat	10	7	2	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:17831361G>A	ENST00000259711.6	-	13	1477	c.1372C>T	c.(1372-1374)Ctt>Ttt	p.L458F	KIF13A_ENST00000378843.2_Missense_Mutation_p.L458F|KIF13A_ENST00000378816.5_Missense_Mutation_p.L458F|KIF13A_ENST00000378814.5_Missense_Mutation_p.L458F|KIF13A_ENST00000378826.2_Missense_Mutation_p.L458F	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	458					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGTTCGTTAAGAGCAGGGTCT	0.408																																																	0													116	114	115					6																	17831361		1894	4110	6004	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1372C>T	6.37:g.17831361G>A	ENSP00000259711:p.Leu458Phe		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L458F	ENST00000259711.6	37	c.1372	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921312	0.92249	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.75589	-0.93;-0.95;-0.93;-0.93;-0.93	5.3	5.3	0.74995	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.64402	D	0.000001	D	0.83672	0.5305	M	0.80847	2.515	0.80722	D	1	D;P;D;P;D	0.63046	0.981;0.875;0.992;0.604;0.992	P;P;P;B;P	0.60068	0.846;0.476;0.868;0.354;0.868	D	0.85706	0.1316	10	0.87932	D	0	.	19.3251	0.94258	0.0:0.0:1.0:0.0	.	429;458;458;458;458	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	F	458	ENSP00000368091:L458F;ENSP00000259711:L458F;ENSP00000368103:L458F;ENSP00000368120:L458F;ENSP00000368093:L458F	ENSP00000259711:L458F	L	-	1	0	KIF13A	17939340	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.923000	0.87546	2.625000	0.88918	0.563000	0.77884	CTT	KIF13A	-	superfamily_SMAD_FHA_domain		0.408	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	G			17831361	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17831361	G	A	17831361	3	1	186	1	0	0	0	0	1	0	0	0	8294	942	33	1	4178	1	KIF13A	6	17831361	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	1503783	17831361	153283706	86	36009										
MRS2	57380	genome.wustl.edu	37	chr6	24423832	24423832	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atggcttctttacctaaaaaGactcttctggcagatagaag	8	8	3	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:24423832G>C	ENST00000378386.3	+	11	1335	c.1242G>C	c.(1240-1242)aaG>aaC	p.K414N	MRS2_ENST00000543597.1_Missense_Mutation_p.K123N|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.K364N|MRS2_ENST00000443868.2_Missense_Mutation_p.K417N	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	414						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TACCTAAAAAGACTCTTCTGG	0.358																																																	0													57	59	58					6																	24423832		2203	4300	6503	SO:0001583	missense	57380			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.1242G>C	6.37:g.24423832G>C	ENSP00000367637:p.Lys414Asn		A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	NULL	p.K417N	ENST00000378386.3	37	c.1251	CCDS4552.1	6	.	.	.	.	.	.	.	.	.	.	G	9.560	1.118288	0.20877	.	.	ENSG00000124532	ENST00000543597;ENST00000535061;ENST00000378386;ENST00000443868	T;T;T;T	0.48522	0.81;1.4;1.31;1.3	5.52	4.65	0.58169	.	0.241411	0.41605	D	0.000852	T	0.17746	0.0426	L	0.29908	0.895	0.33180	D	0.549441	B;B;B	0.28783	0.11;0.11;0.222	B;B;B	0.27715	0.082;0.046;0.031	T	0.09143	-1.0688	10	0.52906	T	0.07	-27.957	7.3776	0.26837	0.2425:0.0:0.7575:0.0	.	364;417;414	F5GWH3;B4DQL2;Q9HD23	.;.;MRS2_HUMAN	N	123;364;414;417	ENSP00000438118:K123N;ENSP00000441839:K364N;ENSP00000367637:K414N;ENSP00000399585:K417N	ENSP00000367637:K414N	K	+	3	2	MRS2	24531811	0.996000	0.38824	0.875000	0.34327	0.082000	0.17680	2.364000	0.44187	1.567000	0.49668	0.563000	0.77884	AAG	MRS2	-	NULL		0.358	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MRS2	HGNC	protein_coding	OTTHUMT00000040002.1	G			24423832	1	no_errors	ENST00000443868	ensembl	human	known	70_37	missense	SNP	0.857	C	C	24423832	G	C	24423832	3	2	186	1	0	0	0	0	1	0	0	0	9874	933	33	1	1284	1	MRS2	6	24423832	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	6592471	24423832	146691235	87	36010										
NCR3	259197	genome.wustl.edu	37	chr6	31557651	31557651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agatgctggcgtcatggcctCgcacgtcccggatgtgcagc	14	13	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:31557651C>T	ENST00000340027.5	-	2	559	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	NCR3_ENST00000376072.3_Missense_Mutation_p.R99Q|NCR3_ENST00000376071.4_Missense_Mutation_p.R74Q|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_Missense_Mutation_p.R99Q	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	99	Ig-like.				cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GTCATGGCCTCGCACGTCCCG	0.622																																																	0													140	129	133					6																	31557651		1511	2709	4220	SO:0001583	missense	259197			AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19077	protein-coding gene	gene with protein product		611550	"lymphocyte antigen 117"	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123	ENST00000340027.5:c.296G>A	6.37:g.31557651C>T	ENSP00000342156:p.Arg99Gln		B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R99Q	ENST00000340027.5	37	c.296	CCDS34397.1	6	.	.	.	.	.	.	.	.	.	.	C	0.739	-0.777087	0.02929	.	.	ENSG00000204475	ENST00000340027;ENST00000376073;ENST00000376072;ENST00000376071	T;T;T;T	0.65549	-0.16;-0.16;-0.16;4.33	4.01	-7.14	0.01527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.405150	0.04900	N	0.451210	T	0.06690	0.0171	N	0.02345	-0.59	0.09310	N	1	B;B;B	0.20261	0.011;0.043;0.04	B;B;B	0.06405	0.0;0.002;0.001	T	0.01863	-1.1258	10	0.02654	T	1	8.3211	3.43	0.07425	0.1239:0.1887:0.1226:0.5649	.	99;99;99	O14931-2;Q05D23;O14931	.;.;NCTR3_HUMAN	Q	99;99;99;74	ENSP00000342156:R99Q;ENSP00000365241:R99Q;ENSP00000365240:R99Q;ENSP00000365239:R74Q	ENSP00000342156:R99Q	R	-	2	0	NCR3	31665630	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.787000	0.04618	-1.977000	0.00994	-0.237000	0.12165	CGA	NCR3	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.622	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR3	HGNC	protein_coding	OTTHUMT00000076210.2	C			31557651	-1	no_errors	ENST00000340027	ensembl	human	known	70_37	missense	SNP	0.000	T	T	31557651	C	T	31557651	3	4	186	1	0	0	0	0	1	0	0	0	10263	884	31	1	444	1	NCR3	6	31557651	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	7133819	31557651	139557416	88	36011										
HMGA1	3159	genome.wustl.edu	37	chr6	34210518	34210518	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agcgaagtgccaacacctaaGagacctcggggccgaccaaa	11	13	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:34210518G>C	ENST00000447654.1	+	3	654	c.165G>C	c.(163-165)aaG>aaC	p.K55N	HMGA1_ENST00000401473.3_Missense_Mutation_p.K44N|HMGA1_ENST00000311487.5_Missense_Mutation_p.K55N|HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000347617.6_Missense_Mutation_p.K44N|HMGA1_ENST00000395004.3_Missense_Mutation_p.K55N|HMGA1_ENST00000374116.3_Missense_Mutation_p.K44N	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	55	Interaction with HIPK2. {ECO:0000250}.				base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA unwinding involved in DNA replication (GO:0006268)|establishment of integrated proviral latency (GO:0075713)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chromatin silencing (GO:0031936)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|oncogene-induced cell senescence (GO:0090402)|positive regulation of cellular senescence (GO:2000774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			lung(1)	1						CAACACCTAAGAGACCTCGGG	0.572			T	?	"microfollicular thyroid adenoma,  various benign mesenchymal tumors,"																																			Dom	yes		6	6p21	3159	high mobility group AT-hook 1		"E, M"	0													49	42	45					6																	34210518		2197	4289	6486	SO:0001583	missense	3159			AF176039	CCDS4788.1, CCDS4789.1	6p21	2011-07-01	2002-07-25	2002-07-26	ENSG00000137309	ENSG00000137309		"High-mobility group / Canonical"	5010	protein-coding gene	gene with protein product		600701	"high-mobility group (nonhistone chromosomal) protein isoforms I and Y"	HMGIY		8414980, 11406267	Standard	NM_145903		Approved		uc011dso.2	P17096	OTTHUMG00000014539	ENST00000447654.1:c.165G>C	6.37:g.34210518G>C	ENSP00000399888:p.Lys55Asn		P10910|Q5T6U9|Q9UKB0	Missense_Mutation	SNP	prints_HMGI/HMGY,prints_AT_hook-like	p.K55N	ENST00000447654.1	37	c.165	CCDS4789.1	6	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998739	0.54147	.	.	ENSG00000137309	ENST00000311487;ENST00000401473;ENST00000347617;ENST00000327014;ENST00000357318;ENST00000447654;ENST00000395004;ENST00000374116	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	4.6	3.71	0.42584	HMG-I/HMG-Y, DNA-binding, conserved site (1);AT hook, DNA-binding motif (2);	0.000000	0.56097	D	0.000035	T	0.29458	0.0734	L	0.58510	1.815	0.37852	D	0.929404	P;B;B;B	0.46142	0.873;0.007;0.009;0.002	P;B;B;B	0.50352	0.638;0.001;0.001;0.001	T	0.06899	-1.0801	10	0.41790	T	0.15	.	10.0453	0.42184	0.0:0.0:0.7987:0.2013	.	55;44;44;55	B4DWA0;P17096-2;Q5T6U8;P17096	.;.;.;HMGA1_HUMAN	N	55;44;44;44;55;55;55;44	ENSP00000308227:K55N;ENSP00000385693:K44N;ENSP00000288245:K44N;ENSP00000399888:K55N;ENSP00000378452:K55N;ENSP00000363230:K44N	ENSP00000308227:K55N	K	+	3	2	HMGA1	34318496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.194000	0.58393	1.250000	0.43966	0.655000	0.94253	AAG	HMGA1	-	prints_HMGI/HMGY,prints_AT_hook-like		0.572	HMGA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGA1	HGNC	protein_coding	OTTHUMT00000040214.2	G	NM_145899		34210518	1	no_errors	ENST00000395004	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34210518	G	C	34210518	3	2	186	1	0	0	0	0	1	0	0	0	7243	933	33	1	171	1	HMGA1	6	34210518	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2652867	34210518	136904549	89	36012										
KIAA0240	23506	genome.wustl.edu	37	chr6	42796705	42796705	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtcagattagtggttctggtCaaatacagttaattgggtca	11	5	4	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:42796705C>T	ENST00000314073.5	+	6	810	c.634C>T	c.(634-636)Caa>Taa	p.Q212*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q212*			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	212								p.Q212*(1)									TGGTTCTGGTCAAATACAGTT	0.418																																																	1	Substitution - Nonsense(1)	lung(1)											149	143	145					6																	42796705		2203	4300	6503	SO:0001587	stop_gained	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.634C>T	6.37:g.42796705C>T	ENSP00000313933:p.Gln212*		A1L3W2|Q5TFZ3|Q92514	Nonsense_Mutation	SNP	NULL	p.Q212*	ENST00000314073.5	37	c.634	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.107247	0.97291	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.2526	19.7507	0.96267	0.0:1.0:0.0:0.0	.	.	.	.	X	212	.	ENSP00000313933:Q212X	Q	+	1	0	KIAA0240	42904683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.946000	0.75953	2.722000	0.93159	0.655000	0.94253	CAA	KIAA0240	-	NULL		0.418	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	C	NM_015349		42796705	1	no_errors	ENST00000314073	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	42796705	C	T	42796705	4	4	186	1	0	0	0	0	0	1	0	0	8184	827	29	1	648	1	KIAA0240	6	42796705	Nonsense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	8586187	42796705	128318362	90	36013										
DST	667	genome.wustl.edu	37	chr6	56382415	56382415	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctcagcatcagctgcttggtCaaactaaacaaaagataaat	6	9	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:56382415C>G	ENST00000361203.3	-	65	17180	c.17173G>C	c.(17173-17175)Gac>Cac	p.D5725H	DST_ENST00000370754.5_Missense_Mutation_p.D6014H|DST_ENST00000370769.4_Missense_Mutation_p.D5836H|DST_ENST00000244364.6_Missense_Mutation_p.D3422H|DST_ENST00000446842.2_Missense_Mutation_p.D5510H|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D3748H|DST_ENST00000370788.2_Missense_Mutation_p.D3639H|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5725					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGCTTGGTCAAACTAAACA	0.393																																																	0													57	51	53					6																	56382415		1875	4088	5963	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17173G>C	6.37:g.56382415C>G	ENSP00000354508:p.Asp5725His		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D6014H	ENST00000361203.3	37	c.18040		6	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042621	0.35989	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.44	4.55	0.56014	.	0.110411	0.39341	N	0.001393	T	0.28928	0.0718	L	0.51422	1.61	0.29756	N	0.83595	B;P;B;B;B	0.35307	0.011;0.494;0.085;0.001;0.036	B;B;B;B;B	0.39935	0.044;0.314;0.086;0.011;0.046	T	0.14090	-1.0485	9	0.15952	T	0.53	.	14.7535	0.69546	0.0:0.7252:0.2748:0.0	.	3748;5836;6014;5834;3422	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	3422;6014;5836;3748;5510;3639;5725	ENSP00000244364:D3422H;ENSP00000359790:D6014H;ENSP00000359805:D5836H;ENSP00000400883:D3748H;ENSP00000393645:D5510H;ENSP00000359824:D3639H;ENSP00000354508:D5725H	ENSP00000244364:D3422H	D	-	1	0	DST	56490374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.686000	0.61700	1.386000	0.46466	0.650000	0.86243	GAC	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56382415	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	G	G	56382415	C	G	56382415	3	3	186	1	0	0	0	0	1	0	0	0	4793	826	29	1	5387	1	DST	6	56382415	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	13585710	56382415	114732652	91	36014										
DST	667	genome.wustl.edu	37	chr6	56483917	56483917	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttttctttgaaaatcctgctCtgtttttgtctgtttatgca	6	7	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:56483917C>T	ENST00000370765.6	-	23	5022	c.4915G>A	c.(4915-4917)Gag>Aag	p.E1639K	DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6379					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAATCCTGCTCTGTTTTTGTC	0.363																																																	0													138	143	141					6																	56483917		2201	4300	6501	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4915G>A	6.37:g.56483917C>T	ENSP00000359801:p.Glu1639Lys		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E1639K	ENST00000370765.6	37	c.4915	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631620	0.46944	.	.	ENSG00000151914	ENST00000370765	T	0.32272	1.46	5.35	5.35	0.76521	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	N	0.999993	P	0.47910	0.902	P	0.46659	0.523	T	0.02047	-1.1223	7	0.10111	T	0.7	.	19.4438	0.94838	0.0:1.0:0.0:0.0	.	1639	Q03001-3	.	K	1639	ENSP00000359801:E1639K	ENSP00000359801:E1639K	E	-	1	0	DST	56591876	0.855000	0.29742	0.998000	0.56505	0.787000	0.44495	2.884000	0.48562	2.661000	0.90470	0.650000	0.86243	GAG	DST	-	superfamily_Ig/albumin-bd		0.363	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	C	NM_001723		56483917	-1	no_errors	ENST00000370765	ensembl	human	known	70_37	missense	SNP	0.731	T	T	56483917	C	T	56483917	3	4	186	1	0	0	0	0	1	0	0	0	4793	922	32	1	15488	1	DST	6	56483917	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	101502	56483917	114631150	92	36015										
IRAK1BP1	134728	genome.wustl.edu	37	chr6	79577322	79577322	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gcaaaagacccctccgacccGagtgttcgtggaactggttc	11	13	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:79577322G>C	ENST00000369940.2	+	1	134	c.29G>C	c.(28-30)cGa>cCa	p.R10P		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	10	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		CCTCCGACCCGAGTGTTCGTG	0.637																																																	0													83	89	87					6																	79577322		2203	4300	6503	SO:0001583	missense	134728			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.29G>C	6.37:g.79577322G>C	ENSP00000358956:p.Arg10Pro			Missense_Mutation	SNP	pfam_DUF541	p.R10P	ENST00000369940.2	37	c.29	CCDS34488.1	6	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605366	0.66445	.	.	ENSG00000146243	ENST00000369940	.	.	.	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000001	T	0.54431	0.1858	L	0.34521	1.04	0.43617	D	0.995991	D	0.76494	0.999	D	0.85130	0.997	T	0.53704	-0.8401	8	.	.	.	-5.9284	12.2385	0.54528	0.0:0.0:1.0:0.0	.	10	Q5VVH5	IKBP1_HUMAN	P	10	.	.	R	+	2	0	IRAK1BP1	79634041	1.000000	0.71417	0.958000	0.39756	0.577000	0.36160	5.202000	0.65169	2.225000	0.72522	0.561000	0.74099	CGA	IRAK1BP1	-	NULL		0.637	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1BP1	HGNC	protein_coding	OTTHUMT00000041296.2	G	XM_059729		79577322	1	no_errors	ENST00000369940	ensembl	human	known	70_37	missense	SNP	0.987	C	C	79577322	G	C	79577322	3	2	186	1	0	0	0	0	1	0	0	0	7842	1058	37	1	31	1	IRAK1BP1	6	79577322	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	23093405	79577322	91537745	93	36016										
RNGTT	8732	genome.wustl.edu	37	chr6	89563357	89563357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atatgacttacgccatccaaGagagtatttgataaatgcat	7	7	0	3	rs372437134		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:89563357G>A	ENST00000369485.4	-	9	1209	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	RNGTT_ENST00000538899.1_Silent_p.L281L|RNGTT_ENST00000369475.3_Silent_p.L341L|RNGTT_ENST00000265607.6_Silent_p.L341L	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	341	GTase.|Interaction with POLR2A. {ECO:0000250}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CGCCATCCAAGAGAGTATTTG	0.274																																																	0													77	78	78					6																	89563357		2202	4296	6498	SO:0001819	synonymous_variant	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1023C>T	6.37:g.89563357G>A			E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Silent	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.L341	ENST00000369485.4	37	c.1023	CCDS5017.1	6																																																																																			RNGTT	-	pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc		0.274	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	G			89563357	-1	no_errors	ENST00000369485	ensembl	human	known	70_37	silent	SNP	0.500	A	A	89563357	G	A	89563357	2	1	186	1	0	0	0	0	0	0	0	1	13533	929	33	1		1	RNGTT	6	89563357	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	9986035	89563357	81551710	94	36017										
MDN1	23195	genome.wustl.edu	37	chr6	90402195	90402195	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgaagagctgcagggccctCtggtccaactctcccttgca	10	15	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:90402195C>A	ENST00000369393.3	-	63	10669	c.10554G>T	c.(10552-10554)caG>caT	p.Q3518H	MDN1_ENST00000428876.1_Missense_Mutation_p.Q3518H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3518					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAGGGCCCTCTGGTCCAACT	0.607																																																	0													45	46	46					6																	90402195		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10554G>T	6.37:g.90402195C>A	ENSP00000358400:p.Gln3518His		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.Q3518H	ENST00000369393.3	37	c.10554	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305786	0.23736	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03272	3.99;3.99	5.64	4.77	0.60923	.	0.143885	0.48286	D	0.000193	T	0.06962	0.0177	M	0.77820	2.39	0.36506	D	0.869303	D	0.62365	0.991	P	0.57324	0.818	T	0.06588	-1.0818	10	0.51188	T	0.08	.	10.1608	0.42851	0.1365:0.7928:0.0:0.0707	.	3518	Q9NU22	MDN1_HUMAN	H	3518	ENSP00000358400:Q3518H;ENSP00000413970:Q3518H	ENSP00000358400:Q3518H	Q	-	3	2	MDN1	90458916	0.989000	0.36119	1.000000	0.80357	0.975000	0.68041	0.655000	0.24933	1.377000	0.46286	0.462000	0.41574	CAG	MDN1	-	pirsf_Midasin		0.607	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90402195	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90402195	C	A	90402195	3	1	186	1	0	0	0	0	1	0	0	0	9438	912	32	3	6396	3	MDN1	6	90402195	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	838838	90402195	80712872	95	36018										
HS3ST5	222537	genome.wustl.edu	37	chr6	114378975	114378975	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aatcctttctggaacctcctCtgtgataaaatatgctgggc	8	10	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:114378975C>G	ENST00000312719.5	-	5	1675	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E163Q|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	163					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGAACCTCCTCTGTGATAAAA	0.393																																																	0													148	152	150					6																	114378975		2203	4300	6503	SO:0001583	missense	222537			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.487G>C	6.37:g.114378975C>G	ENSP00000427888:p.Glu163Gln		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E163Q	ENST00000312719.5	37	c.487	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	C	8.244	0.807397	0.16467	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.55052	0.54;0.54	5.92	5.92	0.95590	Sulfotransferase domain (1);	0.049231	0.85682	D	0.000000	T	0.31104	0.0786	L	0.33753	1.03	0.49582	D	0.999807	B	0.28760	0.221	B	0.25140	0.058	T	0.09143	-1.0688	10	0.24483	T	0.36	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	163	Q8IZT8	HS3S5_HUMAN	Q	163	ENSP00000427888:E163Q;ENSP00000440332:E163Q	ENSP00000427888:E163Q	E	-	1	0	HS3ST5	114485668	1.000000	0.71417	0.969000	0.41365	0.972000	0.66771	4.815000	0.62634	2.804000	0.96469	0.655000	0.94253	GAG	HS3ST5	-	pfam_Sulfotransferase_dom		0.393	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	C	NM_153612		114378975	-1	no_errors	ENST00000312719	ensembl	human	known	70_37	missense	SNP	0.998	G	G	114378975	C	G	114378975	3	3	186	1	0	0	0	0	1	0	0	0	7388	922	32	1	557	1	HS3ST5	6	114378975	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	23976780	114378975	56736092	96	36019										
CLVS2	134829	genome.wustl.edu	37	chr6	123377039	123377039	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtttggaggaatgctgcctcCttatgacatggggacatggg	15	7	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:123377039C>A	ENST00000275162.5	+	5	2099	c.764C>A	c.(763-765)cCt>cAt	p.P255H	CLVS2_ENST00000368438.1_Missense_Mutation_p.P109H	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	255	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATGCTGCCTCCTTATGACATG	0.443																																																	0													170	141	151					6																	123377039		2203	4300	6503	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.764C>A	6.37:g.123377039C>A	ENSP00000275162:p.Pro255His		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.P255H	ENST00000275162.5	37	c.764	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009226	0.93346	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.84442	-1.85;-1.85	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	P	0.59825	0.864	D	0.88380	0.3001	10	0.51188	T	0.08	-11.2938	20.2983	0.98569	0.0:1.0:0.0:0.0	.	255	Q5SYC1	CLVS2_HUMAN	H	255;109	ENSP00000275162:P255H;ENSP00000357423:P109H	ENSP00000275162:P255H	P	+	2	0	CLVS2	123418738	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.487000	0.81328	2.802000	0.96397	0.655000	0.94253	CCT	CLVS2	-	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.443	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	C	NM_001010852		123377039	1	no_errors	ENST00000275162	ensembl	human	known	70_37	missense	SNP	1.000	A	A	123377039	C	A	123377039	3	1	186	1	0	0	0	0	1	0	0	0	3577	681	24	4	778	4	CLVS2	6	123377039	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	8998064	123377039	47738028	97	36020										
BCLAF1	9774	genome.wustl.edu	37	chr6	136600994	136600994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aagaatgtgatctagaattgGagcgacccatttcttttctc	8	8	3	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:136600994G>A	ENST00000531224.1	-	3	263	c.11C>T	c.(10-12)tCc>tTc	p.S4F	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S4F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S4F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S4F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S4F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S4F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	4				S -> A (in Ref. 1; AAF64304). {ECO:0000305}.	apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGAATTGGAGCGACCCAT	0.308																																					Colon(142;1534 1789 5427 7063 28491)												0													81	72	75					6																	136600994		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.11C>T	6.37:g.136600994G>A	ENSP00000435210:p.Ser4Phe		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.S4F	ENST00000531224.1	37	c.11	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525011	0.64747	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.27256	2.05;1.91;1.98;1.68;1.98;1.91;1.82	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	T	0.38904	0.1058	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.74348	0.983;0.983;0.983;0.983	T	0.08249	-1.0731	10	0.87932	D	0	-4.5125	18.536	0.91010	0.0:0.0:1.0:0.0	.	4;4;4;4	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	F	4	ENSP00000435210:S4F;ENSP00000229446:S4F;ENSP00000435441:S4F;ENSP00000436501:S4F;ENSP00000434826:S4F;ENSP00000376159:S4F;ENSP00000431734:S4F	ENSP00000229446:S4F	S	-	2	0	BCLAF1	136642687	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.244000	0.65400	2.890000	0.99128	0.585000	0.79938	TCC	BCLAF1	-	NULL		0.308	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	G	NM_014739		136600994	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	A	A	136600994	G	A	136600994	3	1	186	1	0	0	0	0	1	0	0	0	1384	1174	41	1	2795	1	BCLAF1	6	136600994	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	13223955	136600994	34514073	98	36021										
SYNE1	23345	genome.wustl.edu	37	chr6	152652986	152652986	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aatgccaatgctaactttttCaaagcttccaggtggacagc	8	10	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:152652986C>T	ENST00000367255.5	-	78	13435	c.12834G>A	c.(12832-12834)ttG>ttA	p.L4278L	SYNE1_ENST00000341594.5_Silent_p.L4143L|SYNE1_ENST00000265368.4_Silent_p.L4278L|SYNE1_ENST00000423061.1_Silent_p.L4207L|SYNE1_ENST00000448038.1_Silent_p.L4207L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4278					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		CTAACTTTTTCAAAGCTTCCA	0.373										HNSCC(10;0.0054)																																							0													87	88	88					6																	152652986		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12834G>A	6.37:g.152652986C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L4278	ENST00000367255.5	37	c.12834	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152652986	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	1.000	T	T	152652986	C	T	152652986	2	4	186	1	0	0	0	0	0	0	0	1	15475	825	29	1		1	SYNE1	6	152652986	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	16051992	152652986	18462081	99	36022										
FNDC1	84624	genome.wustl.edu	37	chr6	159644608	159644608	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	catcagcgtccgggttatgtCatctcagtctgtgcttgtgt	11	10	4	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:159644608C>T	ENST00000297267.9	+	7	1015	c.815C>T	c.(814-816)tCa>tTa	p.S272L	FNDC1_ENST00000340366.6_Missense_Mutation_p.S272L|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	272	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S272L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGGTTATGTCATCTCAGTCT	0.433																																																	1	Substitution - Missense(1)	breast(1)											164	162	163					6																	159644608		2030	4197	6227	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.815C>T	6.37:g.159644608C>T	ENSP00000297267:p.Ser272Leu		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S272L	ENST00000297267.9	37	c.815	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649456	0.87958	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.59502	0.26;0.26	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.83774	2.66	0.45634	D	0.998567	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78529	-0.2169	10	0.87932	D	0	-18.0389	20.3242	0.98691	0.0:1.0:0.0:0.0	.	272;272	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	L	272	ENSP00000297267:S272L;ENSP00000342460:S272L	ENSP00000297267:S272L	S	+	2	0	FNDC1	159564596	1.000000	0.71417	0.214000	0.23707	0.921000	0.55340	7.160000	0.77495	2.882000	0.98803	0.655000	0.94253	TCA	FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159644608	1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.102	T	T	159644608	C	T	159644608	3	4	186	1	0	0	0	0	1	0	0	0	5986	838	29	1	841	1	FNDC1	6	159644608	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6991622	159644608	11470459	100	36023										
GPR31	2853	genome.wustl.edu	37	chr6	167570420	167570420	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gctgcctgccctttgcctcgGagggtgtggaagaccctccg	14	14	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:167570420G>C	ENST00000366834.1	-	1	1397	c.900C>G	c.(898-900)ctC>ctG	p.L300L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	300					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CTTTGCCTCGGAGGGTGTGGA	0.592																																																	0													52	57	55					6																	167570420		2203	4300	6503	SO:0001819	synonymous_variant	2853			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"GPCR / Class A : Orphans"	4486	protein-coding gene	gene with protein product	"hydroxyeicosatetraenoic (HETE) acid receptor 1", "12-(S)-HETE acid receptor"	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.900C>G	6.37:g.167570420G>C			B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L300	ENST00000366834.1	37	c.900	CCDS5299.1	6																																																																																			GPR31	-	NULL		0.592	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR31	HGNC	protein_coding	OTTHUMT00000043111.1	G	NM_005299		167570420	-1	no_errors	ENST00000366834	ensembl	human	known	70_37	silent	SNP	0.000	C	C	167570420	G	C	167570420	2	2	186	1	0	0	0	0	0	0	0	1	6706	1161	41	1		1	GPR31	6	167570420	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	7925812	167570420	3544647	101	36024										
CCDC126	90693	genome.wustl.edu	37	chr7	23651037	23651037	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgttactgcactatacttttCaacaaccaagacatcaaagc	4	11	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:23651037C>T	ENST00000307471.3	+	3	560	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	CCDC126_ENST00000410069.1_Nonsense_Mutation_p.Q35*|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000409765.1_Nonsense_Mutation_p.Q35*	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	35					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						CTATACTTTTCAACAACCAAG	0.343																																																	0													128	115	120					7																	23651037		2203	4300	6503	SO:0001587	stop_gained	90693			BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.103C>T	7.37:g.23651037C>T	ENSP00000304355:p.Gln35*		A8K1J6|Q6UWP1|Q75MQ6	Nonsense_Mutation	SNP	NULL	p.Q35*	ENST00000307471.3	37	c.103	CCDS5384.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.819290	0.98507	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.71	5.71	0.89125	.	0.115907	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.4197	19.8593	0.96777	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000304355:Q35X	Q	+	1	0	CCDC126	23617562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.298000	0.78815	2.700000	0.92200	0.557000	0.71058	CAA	CCDC126	-	NULL		0.343	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC126	HGNC	protein_coding	OTTHUMT00000250259.1	C	NM_138771		23651037	1	no_errors	ENST00000307471	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	23651037	C	T	23651037	4	4	186	1	0	0	0	0	0	1	0	0	2767	827	29	1	105	1	CCDC126	7	23651037	Nonsense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		23651037	135487626	102	36025										
SBDS	51119	genome.wustl.edu	37	chr7	66460307	66460307	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gccagccgacgaccttgtttTtgtagcaggcgatttcgaag	12	10	0	0	rs373730800		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:66460307T>A	ENST00000246868.2	-	1	281	c.98A>T	c.(97-99)aAa>aTa	p.K33I	TYW1_ENST00000491969.1_3'UTR|TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	33			K -> T (in SDS). {ECO:0000269|PubMed:24898207}.		bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GACCTTGTTTTTGTAGCAGGC	0.652			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																														yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													58	55	56					7																	66460307		2203	4300	6503	SO:0001583	missense	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.98A>T	7.37:g.66460307T>A	ENSP00000246868:p.Lys33Ile		A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS	p.K33I	ENST00000246868.2	37	c.98	CCDS5537.1	7	.	.	.	.	.	.	.	.	.	.	T	36	5.838598	0.97009	.	.	ENSG00000126524	ENST00000246868	D	0.96073	-3.9	5.19	5.19	0.71726	Ribosome maturation protein SBDS, N-terminal (2);	0.047367	0.85682	D	0.000000	D	0.98814	0.9600	H	0.97564	4.03	0.80722	D	1	B	0.32409	0.37	D	0.66847	0.947	D	0.98669	1.0687	10	0.66056	D	0.02	-25.1279	13.0328	0.58851	0.0:0.0:0.0:1.0	.	33	Q9Y3A5	SBDS_HUMAN	I	33	ENSP00000246868:K33I	ENSP00000246868:K33I	K	-	2	0	SBDS	66097742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.862000	0.62976	2.183000	0.69458	0.459000	0.35465	AAA	SBDS	-	pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS		0.652	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBDS	HGNC	protein_coding	OTTHUMT00000251746.2	T	NM_016038		66460307	-1	no_errors	ENST00000246868	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66460307	T	A	66460307	3	1	186	1	0	0	0	0	1	0	0	0	13887	1841	64	5	674	5	SBDS	7	66460307	Missense_Mutation	SNP	T	TCGA-Q1-A73P-01A-11D-A32I-09	42809270	66460307	92678356	103	36026										
HIP1	3092	genome.wustl.edu	37	chr7	75172205	75172205	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtgatttgccggaaatggttGaggccacaacgccggcagtg	15	9	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:75172205G>A	ENST00000336926.6	-	28	2881	c.2855C>T	c.(2854-2856)tCa>tTa	p.S952L	HIP1_ENST00000434438.2_Missense_Mutation_p.S901L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	952	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGAAATGGTTGAGGCCACAAC	0.562			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													94	88	90					7																	75172205		2203	4300	6503	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2855C>T	7.37:g.75172205G>A	ENSP00000336747:p.Ser952Leu		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.S952L	ENST00000336926.6	37	c.2855	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.391854	0.95988	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.33216	1.42;1.42	5.19	5.19	0.71726	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.971	T	0.63116	-0.6709	10	0.72032	D	0.01	-8.4622	17.2959	0.87170	0.0:0.0:1.0:0.0	.	901;952	E7ES17;O00291	.;HIP1_HUMAN	L	952;901	ENSP00000336747:S952L;ENSP00000410300:S901L	ENSP00000336747:S952L	S	-	2	0	HIP1	75010141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.398000	0.97281	2.415000	0.81967	0.563000	0.77884	TCA	HIP1	-	pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	G	NM_005338		75172205	-1	no_errors	ENST00000336926	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75172205	G	A	75172205	3	1	186	1	0	0	0	0	1	0	0	0	7134	1294	45	1	274	1	HIP1	7	75172205	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	8711898	75172205	83966458	104	36027										
GRM3	2913	genome.wustl.edu	37	chr7	86415790	86415790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	attacggggagacagggatcGaggccttcgagcaggaagcc	16	9	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:86415790G>A	ENST00000361669.2	+	3	1781	c.682G>A	c.(682-684)Gag>Aag	p.E228K	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.E228K|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.E226K|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.E100K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	228					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACAGGGATCGAGGCCTTCGA	0.602																																					GBM(52;969 1098 3139 52280)												0													66	60	62					7																	86415790		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.682G>A	7.37:g.86415790G>A	ENSP00000355316:p.Glu228Lys		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.E228K	ENST00000361669.2	37	c.682	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.235756	0.95240	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92792	0.7708	M	0.74389	2.26	0.80722	D	1	D;D;D	0.76494	0.965;0.999;0.972	P;P;P	0.62089	0.506;0.898;0.639	D	0.93177	0.6571	10	0.87932	D	0	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	100;228;228	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	K	228;100;100;228;226	ENSP00000355316:E228K;ENSP00000405427:E100K;ENSP00000441407:E100K;ENSP00000398767:E228K;ENSP00000378209:E226K	ENSP00000355316:E228K	E	+	1	0	GRM3	86253726	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	GAG	GRM3	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.602	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	G			86415790	1	no_errors	ENST00000361669	ensembl	human	known	70_37	missense	SNP	1.000	A	A	86415790	G	A	86415790	3	1	186	1	0	0	0	0	1	0	0	0	6818	1059	37	1	688	1	GRM3	7	86415790	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	11243585	86415790	72722873	105	36028										
ZNF804B	219578	genome.wustl.edu	37	chr7	88962994	88962994	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agtgcacctaaaattagaatCttcagcatcagttttcagtg	7	8	4	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:88962994C>T	ENST00000333190.4	+	4	1307	c.698C>T	c.(697-699)tCt>tTt	p.S233F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	233							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAATTAGAATCTTCAGCATCA	0.368										HNSCC(36;0.09)																																							0													66	64	65					7																	88962994		2202	4300	6502	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.698C>T	7.37:g.88962994C>T	ENSP00000329638:p.Ser233Phe		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S233F	ENST00000333190.4	37	c.698	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112112	0.77210	.	.	ENSG00000182348	ENST00000333190	T	0.20069	2.1	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000029	T	0.48978	0.1530	M	0.76170	2.325	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	T	0.51687	-0.8674	10	0.87932	D	0	-15.2995	18.5918	0.91215	0.0:1.0:0.0:0.0	.	233	A4D1E1	Z804B_HUMAN	F	233	ENSP00000329638:S233F	ENSP00000329638:S233F	S	+	2	0	ZNF804B	88800930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.834000	0.75339	2.630000	0.89119	0.655000	0.94253	TCT	ZNF804B	-	NULL		0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88962994	1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	1.000	T	T	88962994	C	T	88962994	3	4	186	1	0	0	0	0	1	0	0	0	18201	913	32	1	712	1	ZNF804B	7	88962994	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2547204	88962994	70175669	106	36029										
CASD1	64921	genome.wustl.edu	37	chr7	94180766	94180766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aaaatttcaaattttctgttGtttatttcagtagtttcttt	4	4	4	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:94180766G>T	ENST00000297273.4	+	15	2219	c.1932G>T	c.(1930-1932)ttG>ttT	p.L644F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	644						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTTCTGTTGTTTATTTCAG	0.279																																																	0													39	38	39					7																	94180766		2198	4285	6483	SO:0001583	missense	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1932G>T	7.37:g.94180766G>T	ENSP00000297273:p.Leu644Phe		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.L644F	ENST00000297273.4	37	c.1932	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558530	0.45590	.	.	ENSG00000127995	ENST00000297273	T	0.53206	0.63	5.22	-2.77	0.05877	.	0.146519	0.41097	D	0.000943	T	0.48205	0.1487	L	0.43152	1.355	0.46927	D	0.999257	D;D	0.61080	0.989;0.989	P;P	0.62089	0.898;0.898	T	0.46857	-0.9161	10	0.56958	D	0.05	-21.6577	6.8618	0.24072	0.4191:0.2938:0.2872:0.0	.	644;644	Q8WZ77;Q96PB1	.;CASD1_HUMAN	F	644	ENSP00000297273:L644F	ENSP00000297273:L644F	L	+	3	2	CASD1	94018702	0.994000	0.37717	0.467000	0.27180	0.462000	0.32619	0.368000	0.20399	-0.345000	0.08325	-0.379000	0.06801	TTG	CASD1	-	NULL		0.279	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	G	NM_022900		94180766	1	no_errors	ENST00000297273	ensembl	human	known	70_37	missense	SNP	0.972	T	T	94180766	G	T	94180766	3	4	186	1	0	0	0	0	1	0	0	0	2669	1368	48	4	1990	4	CASD1	7	94180766	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	5217772	94180766	64957897	107	36030										
FBXO24	26261	genome.wustl.edu	37	chr7	100190413	100190413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tcttttcccccagtttgcctCggacccaaggtgtgacacag	9	14	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:100190413C>T	ENST00000241071.6	+	5	888	c.566C>T	c.(565-567)tCg>tTg	p.S189L	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.S175L|FBXO24_ENST00000468962.1_Missense_Mutation_p.S177L|FBXO24_ENST00000427939.2_Missense_Mutation_p.S227L|FBXO24_ENST00000360609.2_Missense_Mutation_p.S175L|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	189					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGTTTGCCTCGGACCCAAGG	0.577																																																	0													44	43	43					7																	100190413		2203	4300	6503	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.566C>T	7.37:g.100190413C>T	ENSP00000241071:p.Ser189Leu		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.S227L	ENST00000241071.6	37	c.680	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338998	0.81911	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.51325	2.3;0.71;0.71;2.3;2.28	5.74	5.74	0.90152	.	0.248983	0.28914	N	0.013734	T	0.47820	0.1466	N	0.08118	0	0.35396	D	0.791199	D;D;D;D	0.76494	0.997;0.997;0.997;0.999	P;P;P;D	0.71870	0.557;0.557;0.557;0.975	T	0.62511	-0.6839	10	0.72032	D	0.01	-11.5583	13.1208	0.59325	0.0:0.8393:0.1607:0.0	.	177;227;189;175	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	L	189;175;175;177;227	ENSP00000241071:S189L;ENSP00000353821:S175L;ENSP00000419602:S175L;ENSP00000420239:S177L;ENSP00000416558:S227L	ENSP00000241071:S189L	S	+	2	0	FBXO24	100028349	0.986000	0.35501	0.992000	0.48379	0.961000	0.63080	2.941000	0.49011	2.740000	0.93945	0.558000	0.71614	TCG	FBXO24	-	NULL		0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	C			100190413	1	no_errors	ENST00000427939	ensembl	human	known	70_37	missense	SNP	0.984	T	T	100190413	C	T	100190413	3	4	186	1	0	0	0	0	1	0	0	0	5753	893	31	1	741	1	FBXO24	7	100190413	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6009647	100190413	58948250	108	36031										
PCOLCE	5118	genome.wustl.edu	37	chr7	100201588	100201588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtccccgctatcaggtccccGagggccagactgtgtccctc	11	17	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:100201588G>A	ENST00000223061.5	+	3	491	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	71	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCAGGTCCCCGAGGGCCAGAC	0.647																																																	0													55	59	58					7																	100201588		2203	4300	6503	SO:0001583	missense	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.211G>A	7.37:g.100201588G>A	ENSP00000223061:p.Glu71Lys		B2R9E1|O14550	Missense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.E71K	ENST00000223061.5	37	c.211	CCDS5700.1	7	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290830	0.59976	.	.	ENSG00000106333	ENST00000223061	T	0.17054	2.3	4.6	2.69	0.31865	CUB (5);	0.119417	0.56097	N	0.000036	T	0.15609	0.0376	L	0.49699	1.58	0.52501	D	0.999951	B;B	0.19073	0.002;0.033	B;B	0.21708	0.003;0.036	T	0.04565	-1.0942	10	0.54805	T	0.06	-8.4907	7.5468	0.27772	0.2317:0.0:0.7683:0.0	.	71;71	B4DPJ4;Q15113	.;PCOC1_HUMAN	K	71	ENSP00000223061:E71K	ENSP00000223061:E71K	E	+	1	0	PCOLCE	100039524	1.000000	0.71417	0.936000	0.37596	0.805000	0.45488	4.623000	0.61247	0.507000	0.28148	0.462000	0.41574	GAG	PCOLCE	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.647	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1	G	NM_002593		100201588	1	no_errors	ENST00000223061	ensembl	human	known	70_37	missense	SNP	0.998	A	A	100201588	G	A	100201588	3	1	186	1	0	0	0	0	1	0	0	0	11618	1059	37	1	221	1	PCOLCE	7	100201588	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	11175	100201588	58937075	109	36032										
RELN	5649	genome.wustl.edu	37	chr7	103162496	103162496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aaatggagagccattcccgaCgccacggctccacacactgt	9	15	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:103162496C>T	ENST00000428762.1	-	48	7800	c.7641G>A	c.(7639-7641)gcG>gcA	p.A2547A	RELN_ENST00000343529.5_Silent_p.A2547A|RELN_ENST00000424685.2_Silent_p.A2547A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2547					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A2547A(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCATTCCCGACGCCACGGCTC	0.483																																					NSCLC(146;835 1944 15585 22231 52158)												1	Substitution - coding silent(1)	breast(1)											144	130	135					7																	103162496		2203	4300	6503	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7641G>A	7.37:g.103162496C>T			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A2547	ENST00000428762.1	37	c.7641	CCDS47680.1	7																																																																																			RELN	-	superfamily_Neuraminidase		0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045		103162496	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	silent	SNP	0.999	T	T	103162496	C	T	103162496	2	4	186	1	0	0	0	0	0	0	0	1	13250	523	19	2		2	RELN	7	103162496	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2960908	103162496	55976167	110	36033										
RELN	5649	genome.wustl.edu	37	chr7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gcagcagaaggtgccaggtcGccccgaagtcccttgaaaat	12	12	0	2	rs374232523		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:103191670G>A	ENST00000428762.1	-	41	6305	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_ENST00000343529.5_Missense_Mutation_p.A2049V|RELN_ENST00000424685.2_Missense_Mutation_p.A2049V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2049					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A2049V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGCCAGGTCGCCCCGAAGTC	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		15683	0		0	False		,,,				2504	0				NSCLC(146;835 1944 15585 22231 52158)												1	Substitution - Missense(1)	large_intestine(1)						G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	70	56	61		6146,6146	5.7	1	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	2049/3461,2049/3459	103191670	2,13004	2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6146C>T	7.37:g.103191670G>A	ENSP00000392423:p.Ala2049Val		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A2049V	ENST00000428762.1	37	c.6146	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791303	0.90367	2.27E-4	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.7	5.7	0.88788	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	N	0.20401	0.57	0.80722	D	1	P;D	0.76494	0.946;0.999	B;P	0.61874	0.2;0.895	T	0.15065	-1.0450	10	0.54805	T	0.06	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2049;2049	P78509-2;P78509	.;RELN_HUMAN	V	2049	ENSP00000392423:A2049V;ENSP00000345694:A2049V;ENSP00000388446:A2049V	ENSP00000345694:A2049V	A	-	2	0	RELN	102978906	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	GCG	RELN	-	pfam_BNR_rpt,superfamily_Neuraminidase		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	G	NM_005045		103191670	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103191670	G	A	103191670	3	1	186	1	0	0	0	0	1	0	0	0	13250	1087	38	2	4336	2	RELN	7	103191670	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	29174	103191670	55946993	111	36034										
COG5	10466	genome.wustl.edu	37	chr7	107013082	107013082	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgagtcaaaacttttatgtCtaatgcactgttgatatttt	6	6	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:107013082C>T	ENST00000347053.3	-	8	936	c.886G>A	c.(886-888)Gac>Aac	p.D296N	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000393603.2_Missense_Mutation_p.D296N|COG5_ENST00000297135.3_Missense_Mutation_p.D296N	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	296					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ACTTTTATGTCTAATGCACTG	0.338																																																	0													128	126	127					7																	107013082		2203	4300	6503	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.886G>A	7.37:g.107013082C>T	ENSP00000334703:p.Asp296Asn		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.D296N	ENST00000347053.3	37	c.886	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257303	0.80246	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.30714	1.52;1.52;1.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.981	D;P	0.64144	0.922;0.799	T	0.55003	-0.8208	10	0.54805	T	0.06	-5.8799	19.7109	0.96095	0.0:1.0:0.0:0.0	.	296;296	Q9UP83;Q9UP83-2	COG5_HUMAN;.	N	296	ENSP00000334703:D296N;ENSP00000297135:D296N;ENSP00000377228:D296N	ENSP00000297135:D296N	D	-	1	0	COG5	106800318	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.968000	0.76086	2.703000	0.92315	0.650000	0.86243	GAC	COG5	-	NULL		0.338	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	C			107013082	-1	no_errors	ENST00000297135	ensembl	human	known	70_37	missense	SNP	1.000	T	T	107013082	C	T	107013082	3	4	186	1	0	0	0	0	1	0	0	0	3666	913	32	1	1760	1	COG5	7	107013082	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	3821412	107013082	52125581	112	36035										
ST7	7982	genome.wustl.edu	37	chr7	116830921	116830921	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gctgcatctcggcgggggctGagcacagcagagatgaatgc	16	10	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:116830921G>A	ENST00000393446.2	+	11	1419	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	ST7_ENST00000393447.4_Silent_p.L352L|ST7_ENST00000432298.1_Silent_p.L349L|ST7_ENST00000422922.1_Silent_p.L326L|ST7_ENST00000393443.1_Silent_p.L322L|ST7_ENST00000393449.1_Silent_p.L395L|ST7_ENST00000265437.5_Silent_p.L395L|ST7_ENST00000323984.3_Silent_p.L395L|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000393444.3_Silent_p.L329L|ST7_ENST00000393451.3_Silent_p.L372L			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCGGGGGCTGAGCACAGCAG	0.517																																																	0													77	73	74					7																	116830921		2203	4300	6503	SO:0001819	synonymous_variant	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1116G>A	7.37:g.116830921G>A			A8K137|B4DRQ2	Silent	SNP	pfam_ST7	p.L395	ENST00000393446.2	37	c.1185		7																																																																																			ST7	-	pfam_ST7		0.517	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	ST7	HGNC	protein_coding	OTTHUMT00000319687.1	G	NM_021908		116830921	1	no_errors	ENST00000265437	ensembl	human	known	70_37	silent	SNP	1.000	A	A	116830921	G	A	116830921	2	1	186	1	0	0	0	0	0	0	0	1	15259	1277	45	1		1	ST7	7	116830921	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	9817839	116830921	42307742	113	36036										
TNKS	8658	genome.wustl.edu	37	chr8	9634219	9634219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccagaagccccttcccagacCgcaacagccgcagagcagaa	9	17	0	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:9634219C>T	ENST00000310430.6	+	27	3983	c.3957C>T	c.(3955-3957)acC>acT	p.T1319T	TNKS_ENST00000518281.1_Silent_p.T1082T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1319					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTTCCCAGACCGCAACAGCCG	0.473																																																	0													74	75	74					8																	9634219		2203	4300	6503	SO:0001819	synonymous_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3957C>T	8.37:g.9634219C>T			O95272|Q4G0F2	Silent	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.T1319	ENST00000310430.6	37	c.3957	CCDS5974.1	8																																																																																			TNKS	-	NULL		0.473	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	C	NM_003747		9634219	1	no_errors	ENST00000310430	ensembl	human	known	70_37	silent	SNP	0.000	T	T	9634219	C	T	9634219	2	4	186	1	0	0	0	0	0	0	0	1	16349	639	23	2		2	TNKS	8	9634219	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		9634219	136729803	114	36037										
PIWIL2	55124	genome.wustl.edu	37	chr8	22141712	22141712	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aaggatcaaaaggaacacctCagtctttgggactgaacctc	9	10	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:22141712C>T	ENST00000454009.2	+	6	1179	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q224*|PIWIL2_ENST00000356766.6_Nonsense_Mutation_p.Q224*	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	224					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGGAACACCTCAGTCTTTGGG	0.328																																																	0													139	122	128					8																	22141712		2203	4300	6503	SO:0001587	stop_gained	55124			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.670C>T	8.37:g.22141712C>T	ENSP00000406956:p.Gln224*		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q224*	ENST00000454009.2	37	c.670	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.939694	0.97128	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	.	.	.	5.6	4.67	0.58626	.	0.467786	0.23367	N	0.048946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-15.9075	4.1637	0.10296	0.1638:0.5935:0.158:0.0846	.	.	.	.	X	224	.	ENSP00000349208:Q224X	Q	+	1	0	PIWIL2	22197657	0.039000	0.19947	0.998000	0.56505	0.967000	0.64934	0.596000	0.24044	2.644000	0.89710	0.563000	0.77884	CAG	PIWIL2	-	superfamily_PAZ		0.328	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	C			22141712	1	no_errors	ENST00000356766	ensembl	human	known	70_37	nonsense	SNP	0.596	T	T	22141712	C	T	22141712	4	4	186	1	0	0	0	0	0	1	0	0	11982	827	29	1	688	1	PIWIL2	8	22141712	Nonsense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	12507493	22141712	124222310	115	36038										
THAP1	55145	genome.wustl.edu	37	chr8	42693360	42693360	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttgtggtcacagaaaactgaGagattaacaggggtctgaag	13	5	2	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:42693360G>C	ENST00000254250.3	-	3	617	c.387C>G	c.(385-387)ctC>ctG	p.L129L	THAP1_ENST00000345117.2_3'UTR|THAP1_ENST00000532093.1_5'Flank	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	129					cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGAAAACTGAGAGATTAACAG	0.473																																																	0													117	122	121					8																	42693360		2203	4300	6503	SO:0001819	synonymous_variant	55145			BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"THAP (C2CH-type zinc finger) domain containing"	20856	protein-coding gene	gene with protein product		609520	"dystonia 6, torsion (autosomal dominant)"	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.387C>G	8.37:g.42693360G>C			A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.L129	ENST00000254250.3	37	c.387	CCDS6136.1	8																																																																																			THAP1	-	NULL		0.473	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP1	HGNC	protein_coding	OTTHUMT00000383161.1	G	NM_018105		42693360	-1	no_errors	ENST00000254250	ensembl	human	known	70_37	silent	SNP	1.000	C	C	42693360	G	C	42693360	2	2	186	1	0	0	0	0	0	0	0	1	15871	929	33	1		1	THAP1	8	42693360	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	20551648	42693360	103670662	116	36039										
XKR4	114786	genome.wustl.edu	37	chr8	56015610	56015610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgcctccagctgcccgcagCctggagccgattgcaagacg	12	16	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:56015610C>T	ENST00000327381.6	+	1	662	c.562C>T	c.(562-564)Cct>Tct	p.P188S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	188						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTGCCCGCAGCCTGGAGCCGA	0.652																																																	0													22	22	22					8																	56015610		2189	4272	6461	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.562C>T	8.37:g.56015610C>T	ENSP00000328326:p.Pro188Ser		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.P188S	ENST00000327381.6	37	c.562	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	C	2.096	-0.407259	0.04832	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83075	-1.68	5.04	0.149	0.14863	.	2.230770	0.03010	N	0.149390	T	0.72053	0.3413	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.54761	-0.8245	10	0.38643	T	0.18	0.7866	4.754	0.13075	0.1356:0.4979:0.0:0.3665	.	188	Q5GH76	XKR4_HUMAN	S	188	ENSP00000328326:P188S	ENSP00000328326:P188S	P	+	1	0	XKR4	56178164	0.953000	0.32496	0.516000	0.27786	0.005000	0.04900	0.292000	0.19011	-0.158000	0.11040	-0.133000	0.14855	CCT	XKR4	-	pfam_Transport_prot_XK		0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56015610	1	no_errors	ENST00000327381	ensembl	human	known	70_37	missense	SNP	0.039	T	T	56015610	C	T	56015610	3	4	186	1	0	0	0	0	1	0	0	0	17464	739	26	4	564	4	XKR4	8	56015610	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	13322250	56015610	90348412	117	36040										
YWHAZ	7534	genome.wustl.edu	37	chr8	101961105	101961105	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tttggccttctgaaccagctCatttttatccatgactggat	7	10	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:101961105C>G	ENST00000395957.2	-	3	354	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	YWHAZ_ENST00000395958.2_Missense_Mutation_p.E5Q|YWHAZ_ENST00000395951.3_Missense_Mutation_p.E5Q|YWHAZ_ENST00000395956.3_Missense_Mutation_p.E5Q|YWHAZ_ENST00000353245.3_Missense_Mutation_p.E5Q|YWHAZ_ENST00000457309.1_Missense_Mutation_p.E5Q|YWHAZ_ENST00000395948.2_Intron|YWHAZ_ENST00000419477.2_Missense_Mutation_p.E5Q|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000522542.1_5'Flank|YWHAZ_ENST00000395953.2_Missense_Mutation_p.E5Q			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	5					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TGAACCAGCTCATTTTTATCC	0.418																																																	0													41	48	46					8																	101961105		1953	3661	5614	SO:0001583	missense	7534			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"14-3-3 zeta", "14-3-3 delta"	601288	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.13G>C	8.37:g.101961105C>G	ENSP00000379287:p.Glu5Gln		A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.E5Q	ENST00000395957.2	37	c.13	CCDS6290.1	8	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006644	0.54361	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000395953;ENST00000395951;ENST00000419477;ENST00000521607;ENST00000521328;ENST00000418997;ENST00000437293;ENST00000523131;ENST00000523938	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.49	5.49	0.81192	14-3-3 domain (4);	0.000000	0.64402	D	0.000003	T	0.49270	0.1547	L	0.60957	1.885	0.80722	D	1	B;B	0.17268	0.021;0.021	B;B	0.18263	0.021;0.021	T	0.42207	-0.9465	10	0.45353	T	0.12	.	19.3553	0.94410	0.0:1.0:0.0:0.0	.	5;5	D0PNI1;P63104	.;1433Z_HUMAN	Q	5	ENSP00000379287:E5Q;ENSP00000398599:E5Q;ENSP00000379288:E5Q;ENSP00000379286:E5Q;ENSP00000309503:E5Q;ENSP00000379283:E5Q;ENSP00000379281:E5Q;ENSP00000395114:E5Q;ENSP00000430058:E5Q;ENSP00000429041:E5Q;ENSP00000416551:E5Q;ENSP00000394880:E5Q;ENSP00000428381:E5Q;ENSP00000430219:E5Q	ENSP00000309503:E5Q	E	-	1	0	YWHAZ	102030281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.583000	0.87209	0.655000	0.94253	GAG	YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3		0.418	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	C	NM_145690		101961105	-1	no_errors	ENST00000353245	ensembl	human	known	70_37	missense	SNP	1.000	G	G	101961105	C	G	101961105	3	3	186	1	0	0	0	0	1	0	0	0	17537	835	29	1	744	1	YWHAZ	8	101961105	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	45945495	101961105	44402917	118	36041										
DCAF13	81034	genome.wustl.edu	37	chr8	104427430	104427430	+	5'Flank	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cccgagtctccgccctgcctCgcccacaaatgctccagccc	7	22	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:104427430C>G	ENST00000297578.4	-	0	0				DCAF13_ENST00000521971.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000297579.5_Missense_Mutation_p.S71W|DCAF13_ENST00000521716.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CGCCCTGCCTCGCCCACAAAT	0.642																																																	0													59	65	63					8																	104427430		2202	4300	6502	SO:0001631	upstream_gene_variant	25879			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427430C>G	Exception_encountered		Q96JZ6|Q96SU7	Missense_Mutation	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S71W	ENST00000297578.4	37	c.212	CCDS6300.1	8	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322321	0.23994	.	.	ENSG00000164934	ENST00000297579	T	0.76968	-1.06	3.36	2.46	0.29980	.	1.008970	0.07983	N	0.985966	T	0.74673	0.3747	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.65496	-0.6154	7	0.87932	D	0	2.3527	5.6807	0.17774	0.0:0.4932:0.3963:0.1104	.	.	.	.	W	71	ENSP00000297579:S71W	ENSP00000297579:S71W	S	+	2	0	DCAF13	104496606	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.011000	0.13264	0.963000	0.38082	0.655000	0.94253	TCG	DCAF13	-	NULL		0.642	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380290.2	C	NM_030780		104427430	1	no_errors	ENST00000297579	ensembl	human	known	70_37	missense	SNP	0.001	G	G	104427430	C	G	104427430	1	3	186	0	1	0	0	0	0	0	0	0	4271	893	31	1		1	DCAF13	8	104427430	5'Flank	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2466325	104427430	41936592	119	36042										
HAS2	3037	genome.wustl.edu	37	chr8	122626929	122626929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttgcattgtacagccattctCggaagtaggacttgctccaa	9	10	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:122626929C>T	ENST00000303924.4	-	4	1616	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	360					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CAGCCATTCTCGGAAGTAGGA	0.433																																																	0													164	140	148					8																	122626929		2203	4300	6503	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1079G>A	8.37:g.122626929C>T	ENSP00000306991:p.Arg360Gln		Q32MM3	Missense_Mutation	SNP	pfam_Chitin_synth_fng	p.R360Q	ENST00000303924.4	37	c.1079	CCDS6335.1	8	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633980	0.87660	.	.	ENSG00000170961	ENST00000303924	T	0.60424	0.19	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.83161	0.5194	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85882	0.1423	10	0.87932	D	0	-10.4387	20.5385	0.99246	0.0:1.0:0.0:0.0	.	360	Q92819	HAS2_HUMAN	Q	360	ENSP00000306991:R360Q	ENSP00000306991:R360Q	R	-	2	0	HAS2	122696110	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.801000	0.85960	2.863000	0.98299	0.549000	0.68633	CGA	HAS2	-	NULL		0.433	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	HGNC	protein_coding	OTTHUMT00000381150.2	C	NM_005328		122626929	-1	no_errors	ENST00000303924	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122626929	C	T	122626929	3	4	186	1	0	0	0	0	1	0	0	0	6982	884	31	1	583	1	HAS2	8	122626929	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	18199499	122626929	23737093	120	36043										
FAM135B	51059	genome.wustl.edu	37	chr8	139165096	139165096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cctgtccatcctctggacctGgactccttctagaagtatcc	7	15	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:139165096G>A	ENST00000395297.1	-	13	1792	c.1622C>T	c.(1621-1623)cCa>cTa	p.P541L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	541										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCTGGACCTGGACTCCTTCT	0.502										HNSCC(54;0.14)																																							0													79	78	78					8																	139165096		1947	4154	6101	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1622C>T	8.37:g.139165096G>A	ENSP00000378710:p.Pro541Leu		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.P541L	ENST00000395297.1	37	c.1622	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	6.741	0.505595	0.12822	.	.	ENSG00000147724	ENST00000395297	T	0.12361	2.69	5.45	1.51	0.23008	.	1.020530	0.07783	N	0.953647	T	0.13543	0.0328	L	0.60455	1.87	0.09310	N	1	B;B;B	0.17268	0.009;0.021;0.001	B;B;B	0.16722	0.013;0.016;0.003	T	0.45160	-0.9280	10	0.10636	T	0.68	-1.0872	7.9736	0.30143	0.4005:0.0:0.5995:0.0	.	541;541;541	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	L	541	ENSP00000378710:P541L	ENSP00000276737:P541L	P	-	2	0	FAM135B	139234278	0.002000	0.14202	0.009000	0.14445	0.850000	0.48378	1.390000	0.34464	0.345000	0.23873	0.655000	0.94253	CCA	FAM135B	-	NULL		0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	G	NM_015912		139165096	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	0.000	A	A	139165096	G	A	139165096	3	1	186	1	0	0	0	0	1	0	0	0	5464	1348	47	4	2630	4	FAM135B	8	139165096	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	16538167	139165096	7198926	121	36044										
SPATC1	375686	genome.wustl.edu	37	chr8	145095183	145095183	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggcacggtggctgtctctctGagcagccccctcctcagctc	11	17	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:145095183G>A	ENST00000377470.3	+	2	687	c.585G>A	c.(583-585)ctG>ctA	p.L195L	SPATC1_ENST00000447830.2_Silent_p.L195L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	195						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGTCTCTCTGAGCAGCCCCC	0.672																																																	0													29	32	31					8																	145095183		2203	4298	6501	SO:0001819	synonymous_variant	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.585G>A	8.37:g.145095183G>A			B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	NULL	p.L195	ENST00000377470.3	37	c.585	CCDS6413.2	8																																																																																			SPATC1	-	NULL		0.672	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1	G	NM_198572		145095183	1	no_errors	ENST00000377470	ensembl	human	known	70_37	silent	SNP	0.062	A	A	145095183	G	A	145095183	2	1	186	1	0	0	0	0	0	0	0	1	15047	1277	45	1		1	SPATC1	8	145095183	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	5930087	145095183	1268839	122	36045										
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18776963	18776963	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aagcccctcatcacctgggaGaaggacggccagcacctcat	10	15	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:18776963G>A	ENST00000380548.4	+	19	3075	c.2736G>A	c.(2734-2736)gaG>gaA	p.E912E		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	912	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCACCTGGGAGAAGGACGGCC	0.672																																																	0													37	46	43					9																	18776963		2094	4216	6310	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2736G>A	9.37:g.18776963G>A			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E912	ENST00000380548.4	37	c.2736	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.672	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	G			18776963	1	no_errors	ENST00000380548	ensembl	human	novel	70_37	silent	SNP	1.000	A	A	18776963	G	A	18776963	2	1	186	1	0	0	0	0	0	0	0	1	274	933	33	1		1	ADAMTSL1	9	18776963	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		18776963	122436468	123	36046										
ALDH1A1	216	genome.wustl.edu	37	chr9	75524535	75524535	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	taccacactgttcctgcctgCagagcagaggagattgttat	10	10	0	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:75524535C>A	ENST00000297785.3	-	11	1395	c.1341G>T	c.(1339-1341)ctG>ctT	p.L447L		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	447					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTCCTGCCTGCAGAGCAGAGG	0.388																																																	0													158	140	146					9																	75524535		2203	4300	6503	SO:0001819	synonymous_variant	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1341G>T	9.37:g.75524535C>A			O00768|Q5SYR1	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.L447	ENST00000297785.3	37	c.1341	CCDS6644.1	9																																																																																			ALDH1A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.388	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	C			75524535	-1	no_errors	ENST00000297785	ensembl	human	known	70_37	silent	SNP	1.000	A	A	75524535	C	A	75524535	2	1	186	1	0	0	0	0	0	0	0	1	490	697	25	4		4	ALDH1A1	9	75524535	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	56747572	75524535	65688896	124	36047										
FLJ46321	389763	genome.wustl.edu	37	chr9	84606835	84606835	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tagaatggcagcacatccatCagcagcctccacactctaaa	6	14	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:84606835C>T	ENST00000344803.2	+	4	1497	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	484					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCACATCCATCAGCAGCCTCC	0.458																																																	0													78	71	74					9																	84606835		1998	4192	6190	SO:0001587	stop_gained	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1450C>T	9.37:g.84606835C>T	ENSP00000341988:p.Gln484*			Nonsense_Mutation	SNP	NULL	p.Q484*	ENST00000344803.2	37	c.1450	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627623	0.66901	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.91	-0.303	0.12792	.	0.491667	0.16800	N	0.199036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-5.1297	5.6636	0.17682	0.2115:0.3736:0.4149:0.0	.	.	.	.	X	484	.	ENSP00000341988:Q484X	Q	+	1	0	FAM75D1	83796655	0.003000	0.15002	0.000000	0.03702	0.014000	0.08584	0.026000	0.13599	-0.058000	0.13177	0.655000	0.94253	CAG	SPATA31D1	-	NULL		0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	C	NM_001001670		84606835	1	no_errors	ENST00000344803	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	84606835	C	T	84606835	4	4	186	1	0	0	0	0	0	1	0	0	5950	827	29	1	1464	1	FLJ46321	9	84606835	Nonsense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	9082300	84606835	56606596	125	36048										
COL15A1	1306	genome.wustl.edu	37	chr9	101747953	101747953	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggcttcccggcctacagtttCgggcctggtgccaatgttgg	14	12	0	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:101747953C>T	ENST00000375001.3	+	3	630	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	69	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTACAGTTTCGGGCCTGGTG	0.627																																																	0													65	61	62					9																	101747953		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.207C>T	9.37:g.101747953C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.F69	ENST00000375001.3	37	c.207	CCDS35081.1	9																																																																																			COL15A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.627	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	C	NM_001855		101747953	1	no_errors	ENST00000375001	ensembl	human	known	70_37	silent	SNP	0.017	T	T	101747953	C	T	101747953	2	4	186	1	0	0	0	0	0	0	0	1	3677	883	31	1		1	COL15A1	9	101747953	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	17141118	101747953	39465478	126	36049										
AKNA	80709	genome.wustl.edu	37	chr9	117143510	117143510	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cccagctttgtgaactacttCtatccacatccctcttgtcc	4	16	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:117143510C>G	ENST00000307564.4	-	2	265	c.104G>C	c.(103-105)aGa>aCa	p.R35T	AKNA_ENST00000374088.3_Missense_Mutation_p.R35T|AKNA_ENST00000312033.3_Missense_Mutation_p.R35T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	35					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGAACTACTTCTATCCACATC	0.657																																																	0													104	79	88					9																	117143510		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.104G>C	9.37:g.117143510C>G	ENSP00000303769:p.Arg35Thr		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.R35T	ENST00000307564.4	37	c.104	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614186	0.03690	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000312033;ENST00000394574	T;T;T	0.31247	2.73;2.73;1.5	3.83	-2.96	0.05547	.	0.850421	0.10061	N	0.720986	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	P;B	0.38020	0.615;0.118	B;B	0.30943	0.122;0.025	T	0.17410	-1.0370	10	0.27785	T	0.31	-0.5343	1.0706	0.01620	0.1521:0.3171:0.1489:0.382	.	35;35	Q7Z591-6;Q7Z591	.;AKNA_HUMAN	T	35;34;35;35;35	ENSP00000303769:R35T;ENSP00000363201:R35T;ENSP00000309222:R35T	ENSP00000303769:R35T	R	-	2	0	AKNA	116183331	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.112000	0.15479	-0.609000	0.05724	-0.219000	0.12488	AGA	AKNA	-	NULL		0.657	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117143510	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.000	G	G	117143510	C	G	117143510	3	3	186	1	0	0	0	0	1	0	0	0	463	913	32	1	4299	1	AKNA	9	117143510	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	15395557	117143510	24069921	127	36050										
ASTN2	23245	genome.wustl.edu	37	chr9	119382606	119382606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tacaccggctgcagaaggggGctgcagttggggagcccatt	16	10	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:119382606G>T	ENST00000313400.4	-	18	3289	c.3189C>A	c.(3187-3189)agC>agA	p.S1063R	ASTN2_ENST00000361477.3_Missense_Mutation_p.S115R|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1059R|ASTN2_ENST00000341734.4_Missense_Mutation_p.S115R|ASTN2_ENST00000288520.5_Missense_Mutation_p.S164R|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1012R|ASTN2_ENST00000358637.4_Missense_Mutation_p.S115R			O75129	ASTN2_HUMAN	astrotactin 2	1063					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCAGAAGGGGGCTGCAGTTGG	0.567																																																	0													115	107	110					9																	119382606		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3189C>A	9.37:g.119382606G>T	ENSP00000314038:p.Ser1063Arg		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.S1063R	ENST00000313400.4	37	c.3189		9	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218699	0.58560	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477;ENST00000358637	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	6.08	6.08	0.98989	.	0.124643	0.64402	D	0.000001	T	0.49541	0.1563	L	0.47716	1.5	0.58432	D	0.999994	P;P;D;D;P;D;P;P	0.71674	0.852;0.852;0.995;0.998;0.771;0.99;0.852;0.852	B;B;P;P;B;P;B;P	0.62649	0.387;0.387;0.827;0.905;0.38;0.891;0.387;0.61	T	0.28902	-1.0029	9	.	.	.	-26.8282	13.8098	0.63256	0.0695:0.0:0.9305:0.0	.	115;115;786;1012;1063;1059;115;164	B7ZKP4;B7ZKP5;A2A2T8;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;.;ASTN2_HUMAN;.;.;.	R	1063;1059;164;115;786;1012;115;115	ENSP00000314038:S1063R;ENSP00000363108:S1059R;ENSP00000288520:S164R;ENSP00000339925:S115R;ENSP00000363098:S786R;ENSP00000354504:S1012R;ENSP00000355116:S115R;ENSP00000351460:S115R	.	S	-	3	2	ASTN2	118422427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.349000	0.59385	2.894000	0.99253	0.655000	0.94253	AGC	ASTN2	-	NULL		0.567	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		G	NM_014010		119382606	-1	no_errors	ENST00000313400	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119382606	G	T	119382606	3	4	186	1	0	0	0	0	1	0	0	0	1066	1194	42	4	973	4	ASTN2	9	119382606	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2239096	119382606	21830825	128	36051										
C5	727	genome.wustl.edu	37	chr9	123783960	123783960	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	taccaactggtcaagcgaatCtttaacctgcacctgtttgt	7	11	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:123783960C>T	ENST00000223642.1	-	11	1158	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	377					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCAAGCGAATCTTTAACCTGC	0.393																																																	0													149	145	146					9																	123783960		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1129G>A	9.37:g.123783960C>T	ENSP00000223642:p.Asp377Asn		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.D377N	ENST00000223642.1	37	c.1129	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340752	0.41498	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.32515	1.45	5.97	5.08	0.68730	.	0.044655	0.85682	N	0.000000	T	0.21631	0.0521	L	0.31926	0.97	0.45791	D	0.998674	D;P	0.54397	0.966;0.482	B;B	0.37650	0.255;0.088	T	0.02371	-1.1169	10	0.36615	T	0.2	.	12.7662	0.57393	0.0:0.9247:0.0:0.0753	.	448;377	Q59GS8;P01031	.;CO5_HUMAN	N	377;448	ENSP00000223642:D377N	ENSP00000223642:D377N	D	-	1	0	C5	122823781	1.000000	0.71417	0.752000	0.31206	0.776000	0.43924	3.980000	0.56895	1.535000	0.49220	0.655000	0.94253	GAT	C5	-	NULL		0.393	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	C	NM_001735		123783960	-1	no_errors	ENST00000223642	ensembl	human	known	70_37	missense	SNP	0.943	T	T	123783960	C	T	123783960	3	4	186	1	0	0	0	0	1	0	0	0	2285	913	32	1	4025	1	C5	9	123783960	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4401354	123783960	17429471	129	36052										
GSN	2934	genome.wustl.edu	37	chr9	124062204	124062204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cctggcgctgtgcgcgctgtCgctgcccgtccgcgcggcca	15	18	0	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:124062204C>T	ENST00000373818.4	+	1	134	c.65C>T	c.(64-66)tCg>tTg	p.S22L	GSN_ENST00000412819.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	22			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCGCGCTGTCGCTGCCCGTC	0.821																																																	0													1	1	1					9																	124062204		752	1323	2075	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.65C>T	9.37:g.124062204C>T	ENSP00000362924:p.Ser22Leu		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.S22L	ENST00000373818.4	37	c.65	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149852	0.78001	.	.	ENSG00000148180	ENST00000373818	T	0.15834	2.39	4.24	4.24	0.50183	.	3.378830	0.00919	N	0.002575	T	0.11239	0.0274	N	0.08118	0	0.80722	D	1	B	0.32731	0.382	B	0.15052	0.012	T	0.17198	-1.0377	10	0.59425	D	0.04	-0.87	12.0266	0.53373	0.0:1.0:0.0:0.0	.	22	P06396	GELS_HUMAN	L	22	ENSP00000362924:S22L	ENSP00000362924:S22L	S	+	2	0	GSN	123102025	0.076000	0.21285	0.986000	0.45419	0.518000	0.34316	0.311000	0.19380	2.190000	0.69967	0.563000	0.77884	TCG	GSN	-	NULL		0.821	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	C	NM_000177		124062204	1	no_errors	ENST00000373818	ensembl	human	known	70_37	missense	SNP	0.993	T	T	124062204	C	T	124062204	3	4	186	1	0	0	0	0	1	0	0	0	6845	893	31	1	67	1	GSN	9	124062204	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	278244	124062204	17151227	130	36053										
CIZ1	25792	genome.wustl.edu	37	chr9	130932385	130932385	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccagcgccttggtggaggctCcctgaatgacaacagtcaaa	11	12	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:130932385C>T	ENST00000393608.1	-	12	2147	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Splice_Site_p.E620K|CIZ1_ENST00000538431.1_Splice_Site_p.E649K|CIZ1_ENST00000277465.4_Splice_Site_p.E621K|CIZ1_ENST00000357558.5_Splice_Site_p.E621K|CIZ1_ENST00000372948.3_Splice_Site_p.E593K|CIZ1_ENST00000372938.5_Splice_Site_p.E649K|CIZ1_ENST00000372954.1_Splice_Site_p.E569K|CIZ1_ENST00000541172.1_Splice_Site_p.E548K	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	649					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGTGGAGGCTCCCTGAATGAC	0.547																																																	0													146	110	122					9																	130932385		2203	4300	6503	SO:0001630	splice_region_variant	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1944-1G>A	9.37:g.130932385C>T			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.E649K	ENST00000393608.1	37	c.1945	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563039	0.65538	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.48;1.42;1.63;1.47;1.89;1.63;1.31;1.48;2.06	5.81	5.81	0.92471	.	0.285709	0.25416	N	0.030838	T	0.32645	0.0836	N	0.08118	0	0.33112	D	0.540692	D;P;P;D;P;D;P	0.62365	0.991;0.937;0.545;0.978;0.934;0.977;0.893	P;P;B;P;P;P;P	0.57846	0.828;0.48;0.21;0.796;0.53;0.721;0.48	T	0.32693	-0.9897	10	0.23891	T	0.37	-18.3672	13.298	0.60309	0.0:0.9281:0.0:0.0719	.	649;588;593;569;649;620;621	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	K	569;649;649;621;620;588;548;621;593;649;571	ENSP00000362045:E569K;ENSP00000377232:E649K;ENSP00000439244:E649K;ENSP00000350169:E621K;ENSP00000320374:E620K;ENSP00000445057:E548K;ENSP00000277465:E621K;ENSP00000362039:E593K;ENSP00000362029:E649K;ENSP00000398011:E571K	ENSP00000277465:E621K	E	-	1	0	CIZ1	129972206	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	3.775000	0.55349	2.746000	0.94184	0.655000	0.94253	GAG	CIZ1	-	NULL		0.547	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	C	NM_012127	Missense_Mutation	130932385	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130932385	C	T	130932385	5	4	186	1	0	0	0	0	0	0	1	0	3446	869	30	1	775	1	CIZ1	9	130932385	Splice_Site	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6870181	130932385	10281046	131	36054										
C9orf171	389799	genome.wustl.edu	37	chr9	135374101	135374101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggctgaactcggcaagccccGggaaagaagctacagtctgc	13	12	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:135374101G>A	ENST00000343036.2	+	3	371	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	C9orf171_ENST00000393215.3_Missense_Mutation_p.R72Q|C9orf171_ENST00000393216.2_Missense_Mutation_p.R72Q	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	108										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GGCAAGCCCCGGGAAAGAAGC	0.552																																																	0													28	29	29					9																	135374101		2203	4300	6503	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.323G>A	9.37:g.135374101G>A	ENSP00000343290:p.Arg108Gln		Q147X1	Missense_Mutation	SNP	NULL	p.R108Q	ENST00000343036.2	37	c.323	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512534	0.64522	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.23754	1.89;1.89;1.89	5.14	4.22	0.49857	.	0.314949	0.25236	N	0.032125	T	0.15262	0.0368	L	0.43152	1.355	0.27799	N	0.942569	P;P	0.49358	0.534;0.923	B;B	0.32022	0.049;0.139	T	0.17561	-1.0365	10	0.25106	T	0.35	.	9.2106	0.37316	0.0832:0.0:0.7592:0.1576	.	72;108	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	Q	72;108;72	ENSP00000376908:R72Q;ENSP00000343290:R108Q;ENSP00000376909:R72Q	ENSP00000343290:R108Q	R	+	2	0	C9orf171	134363922	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.423000	0.34837	2.545000	0.85829	0.655000	0.94253	CGG	C9orf171	-	NULL		0.552	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	G	NM_207417		135374101	1	no_errors	ENST00000343036	ensembl	human	known	70_37	missense	SNP	1.000	A	A	135374101	G	A	135374101	3	1	186	1	0	0	0	0	1	0	0	0	2475	1116	39	2	333	2	C9orf171	9	135374101	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	4441716	135374101	5839330	132	36055										
KIAA1984	84960	genome.wustl.edu	37	chr9	139694867	139694867	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cgccagctggagaacaacatCgagaagacaatgatcaagat	10	9	1	5			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:139694867C>T	ENST00000338005.6	+	5	500	c.465C>T	c.(463-465)atC>atT	p.I155I	RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Silent_p.I185I|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		155										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGAACAACATCGAGAAGACAA	0.607																																																	0													42	48	46					9																	139694867		2052	4184	6236	SO:0001819	synonymous_variant	84960																														ENST00000338005.6:c.465C>T	9.37:g.139694867C>T			B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	NULL	p.I155	ENST00000338005.6	37	c.465	CCDS43906.1	9																																																																																			KIAA1984	-	NULL		0.607	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	C			139694867	1	no_errors	ENST00000338005	ensembl	human	known	70_37	silent	SNP	0.953	T	T	139694867	C	T	139694867	2	4	186	1	0	0	0	0	0	0	0	1	8286	874	31	1		1	KIAA1984	9	139694867	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4320766	139694867	1518564	133	36056										
ABCA2	20	genome.wustl.edu	37	chr9	139903454	139903454	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aagaaccgcaccacgtccttCacactctggctgctcttggt	8	15	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:139903454C>A	ENST00000371605.3	-	45	7023	c.6876G>T	c.(6874-6876)gtG>gtT	p.V2292V	ABCA2_ENST00000341511.6_Silent_p.V2293V|ABCA2_ENST00000265662.5_Silent_p.V2293V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2292					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCACGTCCTTCACACTCTGGC	0.677																																																	0													37	42	40					9																	139903454		2064	4181	6245	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6876G>T	9.37:g.139903454C>A			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V2293	ENST00000371605.3	37	c.6879		9	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417930	0.25552	.	.	ENSG00000107331	ENST00000398210	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	7.1185	0.25431	0.161:0.5879:0.2511:0.0	.	.	.	.	X	194	.	ENSP00000381268:E194X	E	-	1	0	ABCA2	139023275	0.999000	0.42202	0.998000	0.56505	0.920000	0.55202	0.489000	0.22387	2.009000	0.58944	0.491000	0.48974	GAA	ABCA2	-	NULL		0.677	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		C	NM_001606		139903454	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	silent	SNP	1.000	A	A	139903454	C	A	139903454	2	1	186	1	0	0	0	0	0	0	0	1	32	813	29	3		3	ABCA2	9	139903454	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	208587	139903454	1309977	134	36057										
LARP4B	23185	genome.wustl.edu	37	chr10	875463	875463	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cgctgctgggcatacaggctCacgtccaggggtctaaatcc	12	13	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:875463C>A	ENST00000316157.3	-	10	1027	c.987G>T	c.(985-987)gtG>gtT	p.V329V		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	329					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CATACAGGCTCACGTCCAGGG	0.488																																																	0													116	90	99					10																	875463		2203	4300	6503	SO:0001819	synonymous_variant	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.987G>T	10.37:g.875463C>A			A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.V329	ENST00000316157.3	37	c.987	CCDS31131.1	10																																																																																			LARP4B	-	NULL		0.488	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	C	NM_015155		875463	-1	no_errors	ENST00000316157	ensembl	human	known	70_37	silent	SNP	1.000	A	A	875463	C	A	875463	2	1	186	1	0	0	0	0	0	0	0	1	8651	813	29	3		3	LARP4B	10	875463	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		875463	134659284	135	36058										
DNAJC1	64215	genome.wustl.edu	37	chr10	22048229	22048229	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gctcctctgcagaccgagctCtctcttttctcaggctctcc	7	17	5	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:22048229C>G	ENST00000376980.3	-	11	1756	c.1466G>C	c.(1465-1467)aGa>aCa	p.R489T	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	489					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGACCGAGCTCTCTCTTTTCT	0.547																																																	0													105	103	104					10																	22048229		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1466G>C	10.37:g.22048229C>G	ENSP00000366179:p.Arg489Thr		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.R489T	ENST00000376980.3	37	c.1466	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822824	0.32237	.	.	ENSG00000136770	ENST00000376980	T	0.64085	-0.08	5.44	1.12	0.20585	.	0.076936	0.49916	D	0.000140	T	0.46132	0.1377	L	0.54323	1.7	0.09310	N	1	P;B	0.40144	0.704;0.167	B;B	0.30716	0.119;0.024	T	0.33317	-0.9873	10	0.27785	T	0.31	-0.3976	8.1473	0.31119	0.0:0.2488:0.6103:0.1408	.	210;489	Q96NY3;Q96KC8	.;DNJC1_HUMAN	T	489	ENSP00000366179:R489T	ENSP00000366179:R489T	R	-	2	0	DNAJC1	22088235	0.101000	0.21875	0.013000	0.15412	0.044000	0.14063	1.537000	0.36083	0.621000	0.30232	0.491000	0.48974	AGA	DNAJC1	-	pfscan_Myb-like_dom		0.547	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	C	NM_022365		22048229	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.050	G	G	22048229	C	G	22048229	3	3	186	1	0	0	0	0	1	0	0	0	4638	913	32	1	206	1	DNAJC1	10	22048229	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	21172766	22048229	113486518	136	36059										
DNAJC1	64215	genome.wustl.edu	37	chr10	22048470	22048470	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctctcgctgggtgatcatgtCatcgggcaaggtggtggccg	16	10	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:22048470C>T	ENST00000376980.3	-	11	1515	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	409					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GTGATCATGTCATCGGGCAAG	0.607																																																	0													53	47	49					10																	22048470		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1225G>A	10.37:g.22048470C>T	ENSP00000366179:p.Asp409Asn		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.D409N	ENST00000376980.3	37	c.1225	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	6.084	0.383800	0.11524	.	.	ENSG00000136770	ENST00000376980	T	0.22134	1.97	5.58	2.65	0.31530	.	0.662303	0.15841	N	0.242002	T	0.11410	0.0278	L	0.29908	0.895	0.80722	D	1	B;B	0.29716	0.001;0.255	B;B	0.22152	0.001;0.038	T	0.12889	-1.0530	10	0.15499	T	0.54	-2.474	5.7543	0.18164	0.0:0.4795:0.2457:0.2748	.	130;409	Q96NY3;Q96KC8	.;DNJC1_HUMAN	N	409	ENSP00000366179:D409N	ENSP00000366179:D409N	D	-	1	0	DNAJC1	22088476	0.963000	0.33076	0.660000	0.29694	0.021000	0.10359	0.863000	0.27913	0.736000	0.32559	-0.424000	0.05967	GAC	DNAJC1	-	NULL		0.607	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	C	NM_022365		22048470	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.981	T	T	22048470	C	T	22048470	3	4	186	1	0	0	0	0	1	0	0	0	4638	826	29	1	447	1	DNAJC1	10	22048470	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	241	22048470	113486277	137	36060										
ARHGAP21	57584	genome.wustl.edu	37	chr10	24923951	24923951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tatcagcacctgtacataatCcagcttcaaaagcaggtcct	6	12	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:24923951C>T	ENST00000396432.2	-	5	836	c.350G>A	c.(349-351)gGa>gAa	p.G117E		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	116	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGTACATAATCCAGCTTCAAA	0.333																																																	0													118	110	113					10																	24923951		2203	4300	6503	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.350G>A	10.37:g.24923951C>T	ENSP00000379709:p.Gly117Glu		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.G117E	ENST00000396432.2	37	c.350	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676225	0.88445	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305;ENST00000535396	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.9	4.9	0.64082	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.79011	2.435	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.83275	0.985;0.978;0.996	T	0.66854	-0.5818	10	0.62326	D	0.03	.	17.2101	0.86928	0.0:1.0:0.0:0.0	.	117;116;116	F8W9U9;Q5T5U2;Q5T5U3	.;.;RHG21_HUMAN	E	117;116;117;117;106;19	ENSP00000379709:G117E;ENSP00000365592:G117E;ENSP00000405018:G117E;ENSP00000400566:G106E	ENSP00000365592:G117E	G	-	2	0	ARHGAP21	24963957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.731000	0.74785	2.420000	0.82092	0.557000	0.71058	GGA	ARHGAP21	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.333	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	C	NM_020824		24923951	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	1.000	T	T	24923951	C	T	24923951	3	4	186	1	0	0	0	0	1	0	0	0	871	855	30	1	5614	1	ARHGAP21	10	24923951	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2875481	24923951	110610796	138	36061										
ARMC4	55130	genome.wustl.edu	37	chr10	28273994	28273994	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaggaggtgcagatccaattGcttaagcagcatagcaatct	11	8	1	1	rs569047328	byFrequency	TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:28273994G>A	ENST00000305242.5	-	4	621	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	ARMC4_ENST00000239715.3_Nonsense_Mutation_p.Q34*|ARMC4_ENST00000537576.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	177					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGATCCAATTGCTTAAGCAGC	0.338																																																	0													78	71	73					10																	28273994		2203	4300	6503	SO:0001587	stop_gained	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.529C>T	10.37:g.28273994G>A	ENSP00000306410:p.Gln177*		A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.Q177*	ENST00000305242.5	37	c.529	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666220	0.67814	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	.	.	.	5.55	3.65	0.41850	.	0.534254	0.20981	N	0.082211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.7034	15.1297	0.72514	0.0:0.2691:0.7309:0.0	.	.	.	.	X	177;71;34	.	ENSP00000239715:Q34X	Q	-	1	0	ARMC4	28314000	1.000000	0.71417	0.006000	0.13384	0.072000	0.16883	2.840000	0.48215	0.665000	0.31066	-0.291000	0.09656	CAA	ARMC4	-	NULL		0.338	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	G	NM_018076		28273994	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	nonsense	SNP	0.889	A	A	28273994	G	A	28273994	4	1	186	1	0	0	0	0	0	1	0	0	954	1328	46	4	2673	4	ARMC4	10	28273994	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3350043	28273994	107260753	139	36062										
C10orf2	56652	genome.wustl.edu	37	chr10	102748742	102748742	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgattagtcgtcgagatgctGaggtggtactgacgagtcgt	15	6	0	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:102748742G>A	ENST00000311916.2	+	1	960	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.E259K|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	259					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCGAGATGCTGAGGTGGTACT	0.572																																																	0													126	111	116					10																	102748742		2203	4300	6503	SO:0001583	missense	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.775G>A	10.37:g.102748742G>A	ENSP00000309595:p.Glu259Lys		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.E259K	ENST00000311916.2	37	c.775	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807841	0.70797	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.91407	-2.84;-2.84	5.54	5.54	0.83059	.	0.049845	0.85682	D	0.000000	D	0.93077	0.7796	L	0.58925	1.835	0.53005	D	0.999969	D;D	0.69078	0.99;0.997	P;D	0.63703	0.896;0.917	D	0.89997	0.4112	10	0.12430	T	0.62	-10.3847	18.0542	0.89358	0.0:0.0:1.0:0.0	.	259;259	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	K	259	ENSP00000309595:E259K;ENSP00000359248:E259K	ENSP00000309595:E259K	E	+	1	0	C10orf2	102738732	1.000000	0.71417	0.922000	0.36590	0.549000	0.35272	7.930000	0.87610	2.618000	0.88619	0.462000	0.41574	GAG	C10orf2	-	NULL		0.572	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	G	NM_021830		102748742	1	no_errors	ENST00000311916	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102748742	G	A	102748742	3	1	186	1	0	0	0	0	1	0	0	0	1601	1291	45	1	777	1	C10orf2	10	102748742	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	74474748	102748742	32786005	140	36063										
PSD	5662	genome.wustl.edu	37	chr10	104176405	104176405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gggcctgggaggagaaacccCacccagatcccagctccgac	12	16	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:104176405C>T	ENST00000020673.5	-	2	917	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.G131R	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	131	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGAGAAACCCCACCCAGATCC	0.632																																																	0													24	27	26					10																	104176405		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.391G>A	10.37:g.104176405C>T	ENSP00000020673:p.Gly131Arg		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.G131R	ENST00000020673.5	37	c.391	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881157	0.51801	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.18960	2.18;2.18	5.08	4.14	0.48551	.	0.439260	0.20407	N	0.092933	T	0.11965	0.0291	N	0.08118	0	0.20489	N	0.999899	P	0.36065	0.535	B	0.37833	0.259	T	0.21042	-1.0257	10	0.26408	T	0.33	.	12.9493	0.58389	0.1612:0.8388:0.0:0.0	.	131	A5PKW4	PSD1_HUMAN	R	131	ENSP00000020673:G131R;ENSP00000384830:G131R	ENSP00000020673:G131R	G	-	1	0	PSD	104166395	0.022000	0.18835	0.814000	0.32528	0.960000	0.62799	1.168000	0.31859	2.375000	0.81037	0.561000	0.74099	GGG	PSD	-	NULL		0.632	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	C			104176405	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.401	T	T	104176405	C	T	104176405	3	4	186	1	0	0	0	0	1	0	0	0	12673	594	21	4	2747	4	PSD	10	104176405	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1427663	104176405	31358342	141	36064										
ADAM12	8038	genome.wustl.edu	37	chr10	127755362	127755362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aggtggtggcattgcagcagCgattcatacattcctggaaa	12	8	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:127755362C>T	ENST00000368679.4	-	13	1655	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.R449H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	449	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ATTGCAGCAGCGATTCATACA	0.512																																																	0													100	85	90					10																	127755362		2203	4300	6503	SO:0001583	missense	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1346G>A	10.37:g.127755362C>T	ENSP00000357668:p.Arg449His		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R449H	ENST00000368679.4	37	c.1346	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073286	0.36566	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.11604	2.76;2.76	4.56	0.077	0.14406	Blood coagulation inhibitor, Disintegrin (5);	0.384999	0.25490	N	0.030314	T	0.05593	0.0147	N	0.21545	0.675	0.33957	D	0.645149	B;B;B;B;B	0.14012	0.009;0.007;0.007;0.007;0.003	B;B;B;B;B	0.12156	0.007;0.004;0.004;0.004;0.004	T	0.16424	-1.0403	10	0.44086	T	0.13	.	2.7476	0.05272	0.1386:0.382:0.3188:0.1606	.	446;446;449;446;449	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	H	449	ENSP00000357668:R449H;ENSP00000357665:R449H	ENSP00000357665:R449H	R	-	2	0	ADAM12	127745352	0.066000	0.20996	0.740000	0.30986	0.770000	0.43624	-0.046000	0.11983	0.199000	0.20427	-0.176000	0.13171	CGC	ADAM12	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin		0.512	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	C			127755362	-1	no_errors	ENST00000368679	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127755362	C	T	127755362	3	4	186	1	0	0	0	0	1	0	0	0	236	768	27	2	1535	2	ADAM12	10	127755362	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	23578957	127755362	7779385	142	36065										
CDHR5	53841	genome.wustl.edu	37	chr11	617419	617419	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cctccccgcgccctcgccctCatcgccgctgccggagtcac	9	23	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:617419C>G	ENST00000358353.3	-	16	2792	c.2470G>C	c.(2470-2472)Gag>Cag	p.E824Q	IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.E824Q|IRF7_ENST00000397566.1_5'Flank|CDHR5_ENST00000349570.7_Missense_Mutation_p.E630Q|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000348655.6_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	824					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCCTCGCCCTCATCGCCGCTG	0.687																																																	0													30	27	28					11																	617419		2198	4298	6496	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2470G>C	11.37:g.617419C>G	ENSP00000351118:p.Glu824Gln		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	p.E824Q	ENST00000358353.3	37	c.2470	CCDS7707.1	11	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368952	0.24771	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.51817	0.71;0.71;0.69	3.42	2.47	0.30058	.	.	.	.	.	T	0.36552	0.0971	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28128	0.201;0.042;0.201	B;B;B	0.23275	0.045;0.019;0.045	T	0.23190	-1.0195	9	0.46703	T	0.11	-15.2099	7.6685	0.28445	0.0:0.8671:0.0:0.1329	.	818;630;824	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	Q	824;824;630	ENSP00000380676:E824Q;ENSP00000351118:E824Q;ENSP00000345726:E630Q	ENSP00000345726:E630Q	E	-	1	0	CDHR5	607419	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.097000	0.11042	0.699000	0.31761	0.506000	0.49869	GAG	CDHR5	-	NULL		0.687	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR5	HGNC	protein_coding	OTTHUMT00000255023.2	C	NM_021924		617419	-1	no_errors	ENST00000358353	ensembl	human	known	70_37	missense	SNP	0.001	G	G	617419	C	G	617419	3	3	186	1	0	0	0	0	1	0	0	0	3127	835	29	1	71	1	CDHR5	11	617419	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		617419	134389097	143	36066										
LRDD	79751	genome.wustl.edu	37	chr11	799519	799519	+	5'Flank	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tggctgcccagcctggcgctCagcccaggagaagagcatgt	14	13	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:799519C>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Nonsense_Mutation_p.E841*|PIDD_ENST00000411829.2_Nonsense_Mutation_p.E824*	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTGGCGCTCAGCCCAGGAG	0.667																																					Colon(93;848 1468 3270 23355 49636)												0													33	32	32					11																	799519		2199	4290	6489	SO:0001631	upstream_gene_variant	55367			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799519C>A	Exception_encountered		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Nonsense_Mutation	SNP	pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5	p.E841*	ENST00000531214.1	37	c.2521	CCDS7715.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.550252	0.98352	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	.	.	.	4.74	4.74	0.60224	.	0.255345	0.33938	N	0.004419	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	7.8494	0.29446	0.0:0.6882:0.2197:0.092	.	.	.	.	X	824;841	.	ENSP00000337797:E841X	E	-	1	0	PIDD	789519	0.999000	0.42202	0.990000	0.47175	0.783000	0.44284	3.726000	0.54977	2.338000	0.79540	0.448000	0.29417	GAG	PIDD	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death		0.667	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000384124.1	C			799519	-1	no_errors	ENST00000347755	ensembl	human	known	70_37	nonsense	SNP	0.236	A	A	799519	C	A	799519	1	1	186	0	1	0	0	0	0	0	0	0	8959	835	29	3		3	LRDD	11	799519	5'Flank	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	182100	799519	134206997	144	36067										
LRDD	79751	genome.wustl.edu	37	chr11	800015	800015	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccctcggaccctcgaagtctCtgttggaaggaaaaagtgca	11	11	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:800015C>T	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Splice_Site|PIDD_ENST00000411829.2_Splice_Site	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCGAAGTCTCTGTTGGAAGG	0.647																																					Colon(93;848 1468 3270 23355 49636)												0													21	28	26					11																	800015		2193	4276	6469	SO:0001631	upstream_gene_variant	55367			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800015C>T	Exception_encountered		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Splice_Site	SNP	-	e14-1	ENST00000531214.1	37	c.2275-1	CCDS7715.1	11	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660668	0.14645	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3073	0.43689	0.0:0.7799:0.2201:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIDD	790015	1.000000	0.71417	0.930000	0.37139	0.031000	0.12232	1.777000	0.38604	2.193000	0.70182	0.462000	0.41574	.	PIDD	-	-		0.647	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000384124.1	C			800015	-1	no_errors	ENST00000347755	ensembl	human	known	70_37	splice_site	SNP	0.977	T	T	800015	C	T	800015	1	4	186	0	1	0	0	0	0	0	0	0	8959	927	32	1		1	LRDD	11	800015	5'Flank	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	496	800015	134206501	145	36068										
TSSC4	10078	genome.wustl.edu	37	chr11	2424850	2424850	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaggacccaggtgctgaggtCtgagagggagatggcccagc	18	9	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:2424850C>G	ENST00000333256.6	+	3	1430	c.987C>G	c.(985-987)gtC>gtG	p.V329V	TSSC4_ENST00000380992.1_3'UTR|TSSC4_ENST00000380996.5_Silent_p.V265V|TSSC4_ENST00000467308.1_3'UTR|TSSC4_ENST00000451491.2_Silent_p.V329V|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	329										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCTGAGGTCTGAGAGGGAG	0.657																																																	0													24	24	24					11																	2424850		2200	4295	6495	SO:0001819	synonymous_variant	10078			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.987C>G	11.37:g.2424850C>G			C9JS66|Q86VL2|Q9BRS6	Silent	SNP	NULL	p.V329	ENST00000333256.6	37	c.987	CCDS7735.1	11																																																																																			TSSC4	-	NULL		0.657	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	C	NM_005706		2424850	1	no_errors	ENST00000333256	ensembl	human	known	70_37	silent	SNP	0.000	G	G	2424850	C	G	2424850	2	3	186	1	0	0	0	0	0	0	0	1	16698	900	32	1		1	TSSC4	11	2424850	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1624835	2424850	132581666	146	36069										
DCHS1	8642	genome.wustl.edu	37	chr11	6662202	6662202	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atagtgtgagcggttctctcGgtccagttccccagtaacta	10	11	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:6662202G>A	ENST00000299441.3	-	2	1054	c.643C>T	c.(643-645)Cga>Tga	p.R215*		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTTCTCTCGGTCCAGTTCC	0.612																																																	0													103	96	98					11																	6662202		2201	4296	6497	SO:0001587	stop_gained	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.643C>T	11.37:g.6662202G>A	ENSP00000299441:p.Arg215*		O15098	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R215*	ENST00000299441.3	37	c.643	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	g	38	7.209787	0.98136	.	.	ENSG00000166341	ENST00000299441	.	.	.	4.67	4.67	0.58626	.	0.000000	0.38959	N	0.001517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.991	0.86353	0.0:0.0:1.0:0.0	.	.	.	.	X	215	.	ENSP00000299441:R215X	R	-	1	2	DCHS1	6618778	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.914000	0.63348	2.308000	0.77769	0.539000	0.68188	CGA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6662202	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	6662202	G	A	6662202	4	1	186	1	0	0	0	0	0	1	0	0	4292	1124	39	2	9333	2	DCHS1	11	6662202	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	4237352	6662202	128344314	147	36070										
OVCH2	341277	genome.wustl.edu	37	chr11	7712481	7712481	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaactgggaaccaaagagttGgtaactctatcttcttacct	8	9	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:7712481G>T	ENST00000533663.1	-	0	358				OVCH2_ENST00000534193.2_RNA|OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CCAAAGAGTTGGTAACTCTAT	0.438																																																	0													59	56	57					11																	7712481		1880	4103	5983			341277			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"ovochymase 2"			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7712481G>T				Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P553Q	ENST00000533663.1	37	c.1658		11	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512964	0.27123	.	.	ENSG00000183378	ENST00000454689	D	0.86562	-2.14	4.83	-4.3	0.03710	.	9.788910	0.00397	N	0.000044	T	0.71065	0.3296	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.59547	-0.7434	10	0.56958	D	0.05	14.6571	1.893	0.03252	0.2733:0.3881:0.2073:0.1312	.	553	Q7RTZ1	OVCH2_HUMAN	Q	553	ENSP00000407158:P553Q	ENSP00000407158:P553Q	P	-	2	0	OVCH2	7669057	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.510000	0.06328	-0.538000	0.06281	-0.302000	0.09304	CCA	OVCH2	-	NULL		0.438	OVCH2-002	KNOWN	basic	processed_transcript	OVCH2	HGNC	polymorphic_pseudogene	OTTHUMT00000383928.1	G	NM_198185		7712481	-1	no_errors	ENST00000454689	ensembl	human	known	70_37	missense	SNP	0.000	T	T	7712481	G	T	7712481	1	4	186	0	1	0	0	0	0	0	0	0	11348	1348	47	4		4	OVCH2	11	7712481	RNA	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	1050279	7712481	127294035	148	36071										
SBF2	81846	genome.wustl.edu	37	chr11	10024135	10024135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aggaaacattaaagattccaGggctctacaagcatcactaa	7	9	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:10024135G>A	ENST00000256190.8	-	7	858	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	241	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAAGATTCCAGGGCTCTACAA	0.338																																																	0													74	75	75					11																	10024135		2201	4294	6495	SO:0001819	synonymous_variant	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.721C>T	11.37:g.10024135G>A			Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.L241	ENST00000256190.8	37	c.721	CCDS31427.1	11																																																																																			SBF2	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.338	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	G	NM_030962		10024135	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	silent	SNP	1.000	A	A	10024135	G	A	10024135	2	1	186	1	0	0	0	0	0	0	0	1	13889	991	35	4		4	SBF2	11	10024135	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2311654	10024135	124982381	149	36072										
TTC17	55761	genome.wustl.edu	37	chr11	43400840	43400840	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tagtcatattaatgagacaaGaagcaacagttaactacctc	6	8	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:43400840G>T	ENST00000039989.4	+	2	231	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	TTC17_ENST00000299240.6_Nonsense_Mutation_p.E73*|RP11-484D2.5_ENST00000530042.1_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	73					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AATGAGACAAGAAGCAACAGT	0.398																																																	0													148	148	148					11																	43400840		2203	4300	6503	SO:0001587	stop_gained	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.217G>T	11.37:g.43400840G>T	ENSP00000039989:p.Glu73*		G3XAB3|Q8NEC0	Nonsense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E73*	ENST00000039989.4	37	c.217	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.479097	0.96307	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	.	.	.	4.86	4.86	0.63082	.	0.045509	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-16.8512	17.9549	0.89065	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000039989:E73X	E	+	1	0	TTC17	43357416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.927000	0.87577	2.391000	0.81399	0.557000	0.71058	GAA	TTC17	-	NULL		0.398	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	G	NM_018259		43400840	1	no_errors	ENST00000039989	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	43400840	G	T	43400840	4	4	186	1	0	0	0	0	0	1	0	0	16715	943	33	3	223	3	TTC17	11	43400840	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	33376705	43400840	91605676	150	36073										
AMBRA1	55626	genome.wustl.edu	37	chr11	46564315	46564315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gagtactgtccgggtccactCagatcctgtcaacccaggag	11	13	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:46564315C>G	ENST00000458649.2	-	7	1670	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	AMBRA1_ENST00000314845.3_Missense_Mutation_p.E328Q|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E418Q|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E328Q|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E418Q|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E418Q|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E418Q			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	418					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CGGGTCCACTCAGATCCTGTC	0.587																																																	0													68	72	71					11																	46564315		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1252G>C	11.37:g.46564315C>G	ENSP00000415327:p.Glu418Gln		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E418Q	ENST00000458649.2	37	c.1252		11	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133154	0.56828	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.72615	-0.53;-0.67;-0.26;-0.38;-0.26;-0.39;-0.38	5.85	5.85	0.93711	.	0.090555	0.85682	D	0.000000	T	0.59059	0.2166	N	0.14661	0.345	0.52099	D	0.99994	B;P;P;P;P;P	0.50272	0.361;0.779;0.779;0.621;0.933;0.621	B;B;B;B;B;B	0.41813	0.1;0.295;0.295;0.282;0.367;0.282	T	0.61724	-0.7004	10	0.38643	T	0.18	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	418;418;418;328;328;328	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	Q	328;328;418;418;418;328;418;418	ENSP00000318313:E328Q;ENSP00000433372:E328Q;ENSP00000431926:E418Q;ENSP00000410899:E418Q;ENSP00000298834:E418Q;ENSP00000415327:E418Q;ENSP00000433945:E418Q	ENSP00000298834:E418Q	E	-	1	0	AMBRA1	46520891	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.402000	0.66332	2.767000	0.95098	0.563000	0.77884	GAG	AMBRA1	-	NULL		0.587	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	C	NM_017749		46564315	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	missense	SNP	1.000	G	G	46564315	C	G	46564315	3	3	186	1	0	0	0	0	1	0	0	0	565	835	29	1	2692	1	AMBRA1	11	46564315	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	3163475	46564315	88442201	151	36074										
MYBPC3	4607	genome.wustl.edu	37	chr11	47354759	47354759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gctcaccatggtcttcttgtCggctttctgcactgtgtacc	9	13	4	0	rs377106864		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:47354759C>T	ENST00000545968.1	-	30	3370	c.3316G>A	c.(3316-3318)Gac>Aac	p.D1106N	MYBPC3_ENST00000256993.4_Missense_Mutation_p.D1105N|MYBPC3_ENST00000399249.2_Missense_Mutation_p.D1106N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1106	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCTTCTTGTCGGCTTTCTGC	0.642																																																	0													44	52	49					11																	47354759		2023	4175	6198	SO:0001583	missense	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3316G>A	11.37:g.47354759C>T	ENSP00000442795:p.Asp1106Asn		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D1106N	ENST00000545968.1	37	c.3316	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621380	0.87460	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.56941	0.43;0.43;0.43	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83243	0.5212	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89680	0.3890	9	0.87932	D	0	.	17.8422	0.88718	0.0:1.0:0.0:0.0	.	1105	Q14896	MYPC3_HUMAN	N	1106;1106;1105	ENSP00000442795:D1106N;ENSP00000382193:D1106N;ENSP00000256993:D1105N	ENSP00000256993:D1105N	D	-	1	0	MYBPC3	47311335	1.000000	0.71417	0.952000	0.39060	0.531000	0.34715	7.455000	0.80726	2.517000	0.84864	0.585000	0.79938	GAC	MYBPC3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	C			47354759	-1	no_errors	ENST00000399249	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47354759	C	T	47354759	3	4	186	1	0	0	0	0	1	0	0	0	10036	884	31	1	528	1	MYBPC3	11	47354759	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	790444	47354759	87651757	152	36075										
OR4S1	256148	genome.wustl.edu	37	chr11	48327898	48327898	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tcactgtcctggggaaccttCtggtcatcatcaccatcaat	7	13	6	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:48327898C>T	ENST00000319988.1	+	1	124	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGGGAACCTTCTGGTCATCAT	0.433																																																	0													261	214	230					11																	48327898		2201	4288	6489	SO:0001819	synonymous_variant	256148			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.124C>T	11.37:g.48327898C>T			Q6IFB4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L42	ENST00000319988.1	37	c.124	CCDS31488.1	11																																																																																			OR4S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1	C	NM_001004725		48327898	1	no_errors	ENST00000319988	ensembl	human	known	70_37	silent	SNP	0.012	T	T	48327898	C	T	48327898	2	4	186	1	0	0	0	0	0	0	0	1	11106	912	32	1		1	OR4S1	11	48327898	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	973139	48327898	86678618	153	36076										
INTS5	80789	genome.wustl.edu	37	chr11	62414999	62414999	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aagagcaggggctgttcgcgGaagcgccggccaatgcggag	18	10	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:62414999G>A	ENST00000330574.2	-	2	2605	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	851					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCTGTTCGCGGAAGCGCCGGC	0.677																																																	0													31	36	34					11																	62414999		2198	4294	6492	SO:0001819	synonymous_variant	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2553C>T	11.37:g.62414999G>A			Q8N6W5|Q9C0G5	Silent	SNP	NULL	p.F851	ENST00000330574.2	37	c.2553	CCDS8027.1	11																																																																																			INTS5	-	NULL		0.677	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	G	NM_030628		62414999	-1	no_errors	ENST00000330574	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62414999	G	A	62414999	2	1	186	1	0	0	0	0	0	0	0	1	7801	1165	41	1		1	INTS5	11	62414999	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	14087101	62414999	72591517	154	36077										
CDCA5	113130	genome.wustl.edu	37	chr11	64846883	64846883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tctcgggtggtggggagattCcagggagagtcatgtctggg	19	6	3	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:64846883C>A	ENST00000275517.3	-	5	792	c.620G>T	c.(619-621)gGa>gTa	p.G207V	CDCA5_ENST00000404147.3_Missense_Mutation_p.G207V	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	207					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGGGGAGATTCCAGGGAGAGT	0.562																																																	0													79	88	85					11																	64846883		2201	4297	6498	SO:0001583	missense	113130			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"sororin"	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.620G>T	11.37:g.64846883C>A	ENSP00000275517:p.Gly207Val		A8K625	Missense_Mutation	SNP	pfam_Sororin	p.G207V	ENST00000275517.3	37	c.620	CCDS8091.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364154	0.82353	.	.	ENSG00000146670	ENST00000525464;ENST00000275517;ENST00000404147	T;T	0.51325	0.71;0.71	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.71659	-0.4526	10	0.87932	D	0	.	16.9804	0.86326	0.0:1.0:0.0:0.0	.	207	Q96FF9	CDCA5_HUMAN	V	2;207;207	ENSP00000275517:G207V;ENSP00000385711:G207V	ENSP00000275517:G207V	G	-	2	0	CDCA5	64603459	0.992000	0.36948	0.907000	0.35723	0.860000	0.49131	4.297000	0.59061	2.595000	0.87683	0.644000	0.83932	GGA	CDCA5	-	pfam_Sororin		0.562	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA5	HGNC	protein_coding	OTTHUMT00000385186.1	C	NM_080668		64846883	-1	no_errors	ENST00000275517	ensembl	human	known	70_37	missense	SNP	0.987	A	A	64846883	C	A	64846883	3	1	186	1	0	0	0	0	1	0	0	0	3094	855	30	3	146	3	CDCA5	11	64846883	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2431884	64846883	70159633	155	36078										
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546305	65546305	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agaaagttgagggtagcactCtgggcatctccatctgccac	11	11	3	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:65546305C>A	ENST00000532090.2	-	2	1869	c.1659G>T	c.(1657-1659)caG>caT	p.Q553H		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	553					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGGTAGCACTCTGGGCATCTC	0.647																																																	0													24	28	27					11																	65546305		2077	4209	6286	SO:0001583	missense	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1659G>T	11.37:g.65546305C>A	ENSP00000454303:p.Gln553His		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	NULL	p.Q553H	ENST00000532090.2	37	c.1659	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.647	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	C	NM_138368		65546305	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	missense	SNP	0.866	A	A	65546305	C	A	65546305	3	1	186	1	0	0	0	0	1	0	0	0	4553	912	32	3	981	3	DKFZp761E198	11	65546305	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	699422	65546305	69460211	156	36079										
CLPB	81570	genome.wustl.edu	37	chr11	72070032	72070032	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gttcagcctgttgttgaagtCatcctctcgggtgatcagga	12	9	4	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:72070032C>A	ENST00000294053.3	-	6	930	c.757G>T	c.(757-759)Gac>Tac	p.D253Y	CLPB_ENST00000437826.2_Missense_Mutation_p.D208Y|CLPB_ENST00000445069.2_Missense_Mutation_p.D149Y|CLPB_ENST00000543042.1_Missense_Mutation_p.D52Y|RP11-45F15.2_ENST00000537727.1_RNA|CLPB_ENST00000538039.1_Missense_Mutation_p.D223Y|CLPB_ENST00000340729.5_Missense_Mutation_p.D194Y	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	253					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TTGTTGAAGTCATCCTCTCGG	0.522																																																	0													210	158	175					11																	72070032		2200	4293	6493	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.757G>T	11.37:g.72070032C>A	ENSP00000294053:p.Asp253Tyr		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B	p.D253Y	ENST00000294053.3	37	c.757	CCDS8215.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.33|15.33	2.801156|2.801156	0.50315|0.50315	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683;ENST00000539148|ENST00000544382	T;T;T;T;T;T;T;T|.	0.71461|.	1.75;-0.4;1.9;0.95;2.16;-0.57;-0.4;2.88|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Ankyrin repeat-containing domain (2);|.	0.066962|.	0.64402|.	D|.	0.000016|.	T|T	0.68421|0.68421	0.2999|0.2999	L|L	0.54863|0.54863	1.705|1.705	0.45979|0.45979	D|D	0.998794|0.998794	B;B;B;B;P|.	0.41232|.	0.023;0.079;0.238;0.2;0.743|.	B;B;B;B;B|.	0.37387|.	0.014;0.077;0.125;0.077;0.248|.	T|T	0.66650|0.66650	-0.5870|-0.5870	10|5	0.62326|.	D|.	0.03|.	-22.4057|-22.4057	15.0896|15.0896	0.72183|0.72183	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	52;194;208;223;253|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078|.	.;.;.;.;CLPB_HUMAN|.	Y|I	253;223;258;194;208;52;77;107|30	ENSP00000294053:D253Y;ENSP00000441518:D223Y;ENSP00000443822:D258Y;ENSP00000340385:D194Y;ENSP00000407296:D208Y;ENSP00000439746:D52Y;ENSP00000442651:D77Y;ENSP00000445327:D107Y|.	ENSP00000294053:D253Y|.	D|M	-|-	1|3	0|0	CLPB|CLPB	71747680|71747680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.264000|6.264000	0.72527|0.72527	2.427000|2.427000	0.82271|0.82271	0.637000|0.637000	0.83480|0.83480	GAC|ATG	CLPB	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.522	CLPB-001	KNOWN	basic|CCDS	protein_coding	CLPB	HGNC	protein_coding	OTTHUMT00000396889.1	C	NM_030813		72070032	-1	no_errors	ENST00000294053	ensembl	human	known	70_37	missense	SNP	1.000	A	A	72070032	C	A	72070032	3	1	186	1	0	0	0	0	1	0	0	0	3556	826	29	3	1414	3	CLPB	11	72070032	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6523727	72070032	62936484	157	36080										
FAT3	120114	genome.wustl.edu	37	chr11	92085579	92085579	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cagaggaagtcatcattgcaGatttctgttttctcagaata	8	7	4	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:92085579G>T	ENST00000298047.6	+	1	318	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	FAT3_ENST00000541502.1_Missense_Mutation_p.D101Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D101Y|FAT3_ENST00000525166.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATCATTGCAGATTTCTGTTT	0.368										TCGA Ovarian(4;0.039)																																							0													72	71	71					11																	92085579		1839	4098	5937	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.301G>T	11.37:g.92085579G>T	ENSP00000298047:p.Asp101Tyr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D101Y	ENST00000298047.6	37	c.301		11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960306	0.74016	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.66460	-0.21;-0.21;-0.21	5.53	5.53	0.82687	.	.	.	.	.	D	0.86180	0.5871	M	0.91510	3.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88664	0.3191	9	0.87932	D	0	.	18.8073	0.92043	0.0:0.0:1.0:0.0	.	101	Q8TDW7-3	.	Y	101	ENSP00000298047:D101Y;ENSP00000387040:D101Y;ENSP00000443786:D101Y	ENSP00000298047:D101Y	D	+	1	0	FAT3	91725227	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.731000	0.98807	2.756000	0.94617	0.655000	0.94253	GAT	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.368	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92085579	1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92085579	G	T	92085579	3	4	186	1	0	0	0	0	1	0	0	0	5709	942	33	3	303	3	FAT3	11	92085579	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	20015547	92085579	42920937	158	36081										
SNX19	399979	genome.wustl.edu	37	chr11	130749566	130749566	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tccaggactagaccccagctCagccggcatttgttcacccc	8	17	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:130749566C>T	ENST00000265909.4	-	10	3368	c.2799G>A	c.(2797-2799)ctG>ctA	p.L933L	SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Silent_p.L173L|SNX19_ENST00000528555.1_Silent_p.L313L|SNX19_ENST00000534726.1_Silent_p.L173L|SNX19_ENST00000530356.1_Silent_p.L313L|SNX19_ENST00000426933.2_Silent_p.L101L|SNX19_ENST00000539184.1_Silent_p.L376L	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	933					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GACCCCAGCTCAGCCGGCATT	0.443																																																	0													111	103	106					11																	130749566		2201	4297	6498	SO:0001819	synonymous_variant	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2799G>A	11.37:g.130749566C>T			E9PKB9|Q8IV55	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.L933	ENST00000265909.4	37	c.2799	CCDS31721.1	11																																																																																			SNX19	-	pfam_Sorting_nexin_C		0.443	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	C	NM_014758		130749566	-1	no_errors	ENST00000265909	ensembl	human	known	70_37	silent	SNP	0.724	T	T	130749566	C	T	130749566	2	4	186	1	0	0	0	0	0	0	0	1	14920	813	29	1		1	SNX19	11	130749566	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	38663987	130749566	4256950	159	36082										
FKBP4	2288	genome.wustl.edu	37	chr12	2904331	2904331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agccgaggagatgaaggcgaCcgagagcggggcgcagtcgg	20	9	0	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:2904331C>T	ENST00000001008.4	+	1	213	c.26C>T	c.(25-27)aCc>aTc	p.T9I	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA|CBX3P4_ENST00000540428.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	9					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			ATGAAGGCGACCGAGAGCGGG	0.731																																																	0													17	18	17					12																	2904331		2190	4290	6480	SO:0001583	missense	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.26C>T	12.37:g.2904331C>T	ENSP00000001008:p.Thr9Ile		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.T9I	ENST00000001008.4	37	c.26	CCDS8512.1	12	.	.	.	.	.	.	.	.	.	.	c	7.140	0.581617	0.13686	.	.	ENSG00000004478	ENST00000001008	D	0.81659	-1.52	4.46	3.57	0.40892	.	0.317042	0.32015	N	0.006716	T	0.62539	0.2436	N	0.14661	0.345	0.09310	N	0.999999	B	0.14012	0.009	B	0.17098	0.017	T	0.52510	-0.8566	10	0.45353	T	0.12	-0.387	5.6747	0.17741	0.3021:0.5998:0.0:0.0981	.	9	Q02790	FKBP4_HUMAN	I	9	ENSP00000001008:T9I	ENSP00000001008:T9I	T	+	2	0	FKBP4	2774592	0.116000	0.22171	0.975000	0.42487	0.035000	0.12851	0.945000	0.29056	0.871000	0.35750	0.486000	0.48141	ACC	FKBP4	-	NULL		0.731	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	C			2904331	1	no_errors	ENST00000001008	ensembl	human	known	70_37	missense	SNP	0.625	T	T	2904331	C	T	2904331	3	4	186	1	0	0	0	0	1	0	0	0	5928	507	18	4	28	4	FKBP4	12	2904331	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		2904331	130947564	160	36083										
KIAA1467	57613	genome.wustl.edu	37	chr12	13208765	13208765	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tcatatgtgcgcacgtctgtCttcctgctgactttggggat	11	10	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:13208765C>G	ENST00000197268.8	+	2	438	c.318C>G	c.(316-318)gtC>gtG	p.V106V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	106						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCACGTCTGTCTTCCTGCTGA	0.592																																																	0													98	86	90					12																	13208765		2203	4300	6503	SO:0001819	synonymous_variant	57613			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.318C>G	12.37:g.13208765C>G			Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.V106	ENST00000197268.8	37	c.318	CCDS31750.1	12																																																																																			KIAA1467	-	superfamily_Quinonprotein_ADH-like		0.592	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	C	NM_020853		13208765	1	no_errors	ENST00000197268	ensembl	human	known	70_37	silent	SNP	0.990	G	G	13208765	C	G	13208765	2	3	186	1	0	0	0	0	0	0	0	1	8255	900	32	1		1	KIAA1467	12	13208765	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	10304434	13208765	120643130	161	36084										
DHH	50846	genome.wustl.edu	37	chr12	49487995	49487995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gggagaggccctccttacctCggtcatcaggcggtcggctc	14	14	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:49487995C>T	ENST00000266991.2	-	1	607	c.301G>A	c.(301-303)Gag>Aag	p.E101K	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	101					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						CTCCTTACCTCGGTCATCAGG	0.627																																																	0													69	68	68					12																	49487995		2203	4300	6503	SO:0001583	missense	50846			AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.301G>A	12.37:g.49487995C>T	ENSP00000266991:p.Glu101Lys		Q15794	Missense_Mutation	SNP	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog	p.E101K	ENST00000266991.2	37	c.301	CCDS8779.1	12	.	.	.	.	.	.	.	.	.	.	c	13.84	2.357902	0.41801	.	.	ENSG00000139549	ENST00000266991	D	0.99259	-5.64	5.44	4.54	0.55810	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.109901	0.64402	D	0.000008	D	0.94847	0.8335	N	0.01446	-0.86	0.38977	D	0.958862	B	0.06786	0.001	B	0.04013	0.001	D	0.92423	0.5947	10	0.25106	T	0.35	-16.5915	13.4826	0.61345	0.0:0.922:0.0:0.078	.	101	O43323	DHH_HUMAN	K	101	ENSP00000266991:E101K	ENSP00000266991:E101K	E	-	1	0	DHH	47774262	0.920000	0.31207	0.955000	0.39395	0.988000	0.76386	1.661000	0.37408	1.286000	0.44565	0.552000	0.68991	GAG	DHH	-	pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog,prints_Hedgehog		0.627	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHH	HGNC	protein_coding	OTTHUMT00000408973.1	C	NM_021044		49487995	-1	no_errors	ENST00000266991	ensembl	human	known	70_37	missense	SNP	0.994	T	T	49487995	C	T	49487995	3	4	186	1	0	0	0	0	1	0	0	0	4493	893	31	1	901	1	DHH	12	49487995	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	36279230	49487995	84363900	162	36085										
KRT74	121391	genome.wustl.edu	37	chr12	52967184	52967184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atctcagggtccagctccacGttgaggggggccaagaggct	15	11	1	2	rs151100866		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:52967184G>A	ENST00000305620.2	-	1	425	c.378C>T	c.(376-378)aaC>aaT	p.N126N	KRT74_ENST00000549343.1_Silent_p.N126N	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	126	Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCAGCTCCACGTTGAGGGGGG	0.602																																																	0								G		0,4406		0,0,2203	101	100	100		378	-7.4	0.7	12	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT74	NM_175053.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		126/530	52967184	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121391			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.378C>T	12.37:g.52967184G>A			B5MD61|Q86Y45	Silent	SNP	pfam_F,prints_Keratin_II	p.N126	ENST00000305620.2	37	c.378	CCDS8832.1	12																																																																																			KRT74	-	NULL		0.602	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT74	HGNC	protein_coding	OTTHUMT00000405324.1	G	NM_175053		52967184	-1	no_errors	ENST00000305620	ensembl	human	known	70_37	silent	SNP	0.001	A	A	52967184	G	A	52967184	2	1	186	1	0	0	0	0	0	0	0	1	8507	1136	40	2		2	KRT74	12	52967184	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3479189	52967184	80884711	163	36086										
ITGB7	3695	genome.wustl.edu	37	chr12	53589846	53589846	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aactctgtgctgcgactgtaGaggccattgctgtccaagtg	12	10	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:53589846G>C	ENST00000267082.5	-	7	1185	c.954C>G	c.(952-954)ctC>ctG	p.L318L	ITGB7_ENST00000550743.2_Silent_p.L318L|ITGB7_ENST00000422257.3_Silent_p.L318L|ITGB7_ENST00000338737.4_Silent_p.L318L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	318	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCGACTGTAGAGGCCATTGC	0.552																																																	0													106	97	100					12																	53589846		2203	4300	6503	SO:0001819	synonymous_variant	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.954C>G	12.37:g.53589846G>C			Q9UCP7|Q9UCS7	Silent	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.L318	ENST00000267082.5	37	c.954	CCDS8849.1	12																																																																																			ITGB7	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.552	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	G			53589846	-1	no_errors	ENST00000267082	ensembl	human	known	70_37	silent	SNP	1.000	C	C	53589846	G	C	53589846	2	2	186	1	0	0	0	0	0	0	0	1	7920	929	33	1		1	ITGB7	12	53589846	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	622662	53589846	80262049	164	36087										
HOXC10	3226	genome.wustl.edu	37	chr12	54379697	54379697	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aatgaaatcaagacggagcaGagcctggcgggccctaaagg	14	9	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:54379697G>T	ENST00000303460.4	+	1	728	c.654G>T	c.(652-654)caG>caT	p.Q218H	HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.Q23H	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	218					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						AGACGGAGCAGAGCCTGGCGG	0.602																																																	0													22	27	25					12																	54379697		2202	4297	6499	SO:0001583	missense	3226				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"Homeoboxes / ANTP class : HOXL subclass"	5122	protein-coding gene	gene with protein product		605560	"homeo box C10"	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.654G>T	12.37:g.54379697G>T	ENSP00000307321:p.Gln218His		O15219|O15220|Q9BVD5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Q218H	ENST00000303460.4	37	c.654	CCDS8868.1	12	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379137	0.42207	.	.	ENSG00000180818	ENST00000515593;ENST00000303460	D	0.91996	-2.95	4.23	2.33	0.28932	.	0.482456	0.22264	N	0.062367	D	0.83640	0.5298	L	0.29908	0.895	0.80722	D	1	B	0.15719	0.014	B	0.08055	0.003	T	0.74293	-0.3712	10	0.45353	T	0.12	.	4.0925	0.09976	0.302:0.1987:0.4993:0.0	.	218	Q9NYD6	HXC10_HUMAN	H	106;218	ENSP00000307321:Q218H	ENSP00000307321:Q218H	Q	+	3	2	HOXC10	52665964	0.889000	0.30405	1.000000	0.80357	0.992000	0.81027	0.065000	0.14466	0.467000	0.27218	0.561000	0.74099	CAG	HOXC10	-	NULL		0.602	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC10	HGNC	protein_coding	OTTHUMT00000358952.2	G			54379697	1	no_errors	ENST00000303460	ensembl	human	known	70_37	missense	SNP	1.000	T	T	54379697	G	T	54379697	3	4	186	1	0	0	0	0	1	0	0	0	7329	933	33	3	656	3	HOXC10	12	54379697	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	789851	54379697	79472198	165	36088										
C12orf64	283310	genome.wustl.edu	37	chr12	80651706	80651706	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atggggaaagaatttatattCagcttactagcgcatggaaa	10	5	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:80651706C>A	ENST00000547103.1	+	17	1792	c.1786C>A	c.(1786-1788)Cag>Aag	p.Q596K	OTOGL_ENST00000458043.2_Missense_Mutation_p.Q596K			Q3ZCN5	OTOGL_HUMAN	otogelin-like	596	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AATTTATATTCAGCTTACTAG	0.323																																																	0													143	136	138					12																	80651706		1845	4088	5933	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1786C>A	12.37:g.80651706C>A	ENSP00000447211:p.Gln596Lys		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q596K	ENST00000547103.1	37	c.1786		12	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214986	0.58452	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.58506	0.33;0.33	5.74	5.74	0.90152	.	.	.	.	.	T	0.44973	0.1319	N	0.11651	0.15	0.48395	D	0.999649	.	.	.	.	.	.	T	0.38929	-0.9638	7	0.20519	T	0.43	.	14.724	0.69329	0.1448:0.8552:0.0:0.0	.	.	.	.	K	596	ENSP00000447211:Q596K;ENSP00000400895:Q596K	ENSP00000400895:Q596K	Q	+	1	0	OTOGL	79175837	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.383000	0.59600	2.723000	0.93209	0.655000	0.94253	CAG	OTOGL	-	pfam_VWF_type-D,smart_VWF_type-D		0.323	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80651706	1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	1.000	A	A	80651706	C	A	80651706	3	1	186	1	0	0	0	0	1	0	0	0	1711	827	29	3	1852	3	C12orf64	12	80651706	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	26272009	80651706	53200189	166	36089										
EPYC	1833	genome.wustl.edu	37	chr12	91371936	91371936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aagagccatcaatcagcctgGgagtagattcctcctcctct	8	13	3	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:91371936G>A	ENST00000261172.3	-	3	361	c.269C>T	c.(268-270)cCc>cTc	p.P90L		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	90					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AATCAGCCTGGGAGTAGATTC	0.532											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													123	121	121					12																	91371936		2203	4300	6503	SO:0001583	missense	1833			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3053	protein-coding gene	gene with protein product	"epiphycan proteoglycan"	601657	"dermatan sulphate proteoglycan 3", "dermatan sulfate proteoglycan 3"	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.269C>T	12.37:g.91371936G>A	ENSP00000261172:p.Pro90Leu	1282	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P90L	ENST00000261172.3	37	c.269	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817052	0.70912	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.70282	0.18;-0.47	5.48	5.48	0.80851	.	0.150732	0.64402	D	0.000012	T	0.67822	0.2934	L	0.32530	0.975	0.80722	D	1	P	0.44139	0.827	B	0.44044	0.439	T	0.71174	-0.4670	10	0.62326	D	0.03	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	90	Q99645	EPYC_HUMAN	L	90	ENSP00000261172:P90L;ENSP00000448272:P90L	ENSP00000261172:P90L	P	-	2	0	EPYC	89896067	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	6.282000	0.72639	2.741000	0.93983	0.555000	0.69702	CCC	EPYC	-	NULL		0.532	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	HGNC	protein_coding	OTTHUMT00000407146.2	G	NM_004950		91371936	-1	no_errors	ENST00000261172	ensembl	human	known	70_37	missense	SNP	1.000	A	A	91371936	G	A	91371936	3	1	186	1	0	0	0	0	1	0	0	0	5213	1232	43	4	719	4	EPYC	12	91371936	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	10720230	91371936	42479959	167	36090										
ANO4	121601	genome.wustl.edu	37	chr12	101491724	101491724	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttcatggaacttggctacccGtaagtaccttagtatcaata	7	9	2	0	rs370149306		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:101491724G>A	ENST00000392977.3	+	21	2216		c.e21+1		ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000392979.3_Splice_Site|ANO4_ENST00000299222.9_Splice_Site			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ttggctacccgtaagtacCTT	0.418										HNSCC(74;0.22)																																							0								G		0,4406		0,0,2203	129	118	122			5.8	1	12		122	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	ANO4	NM_178826.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			101491724	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2006+1G>A	12.37:g.101491724G>A			Q8NAJ0|Q8NB39|Q8NB53	Splice_Site	SNP	-	e20+1	ENST00000392977.3	37	c.2006+1		12																																																																																			ANO4	-	-		0.418	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	G	NM_178826	Intron	101491724	1	no_errors	ENST00000392977	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	101491724	G	A	101491724	5	1	186	1	0	0	0	0	0	0	1	0	699	1159	40	2	1976	2	ANO4	12	101491724	Splice_Site	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	10119788	101491724	32360171	168	36091										
UTP20	27340	genome.wustl.edu	37	chr12	101769513	101769513	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttcagtttaccaaacccgctGagactttgagtaaaatctgg	8	9	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:101769513G>A	ENST00000261637.4	+	56	7549	c.7375G>A	c.(7375-7377)Gag>Aag	p.E2459K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2459					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAACCCGCTGAGACTTTGAG	0.303																																																	0													61	61	61					12																	101769513		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7375G>A	12.37:g.101769513G>A	ENSP00000261637:p.Glu2459Lys		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E2459K	ENST00000261637.4	37	c.7375	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251837	0.22880	.	.	ENSG00000120800	ENST00000261637	T	0.66460	-0.21	5.32	3.48	0.39840	Armadillo-type fold (1);	0.304616	0.34531	N	0.003900	T	0.58836	0.2150	L	0.59436	1.845	0.27941	N	0.937505	B	0.02656	0.0	B	0.06405	0.002	T	0.48210	-0.9055	10	0.21540	T	0.41	-12.9756	10.8508	0.46769	0.0709:0.1311:0.7979:0.0	.	2459	O75691	UTP20_HUMAN	K	2459	ENSP00000261637:E2459K	ENSP00000261637:E2459K	E	+	1	0	UTP20	100293644	1.000000	0.71417	0.814000	0.32528	0.004000	0.04260	4.965000	0.63708	0.609000	0.30018	-0.136000	0.14681	GAG	UTP20	-	superfamily_ARM-type_fold		0.303	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101769513	1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.519	A	A	101769513	G	A	101769513	3	1	186	1	0	0	0	0	1	0	0	0	17130	1291	45	1	7597	1	UTP20	12	101769513	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	277789	101769513	32082382	169	36092										
TBX3	6926	genome.wustl.edu	37	chr12	115109794	115109794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tggaggagagcgtggaggagCggctgttgagttcagagccc	19	7	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:115109794C>T	ENST00000257566.3	-	8	2473	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	TBX3_ENST00000349155.2_Missense_Mutation_p.R675H	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	695	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CGTGGAGGAGCGGCTGTTGAG	0.687																																																	0													23	20	21					12																	115109794		2200	4299	6499	SO:0001583	missense	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.2084G>A	12.37:g.115109794C>T	ENSP00000257566:p.Arg695His		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R695H	ENST00000257566.3	37	c.2084	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045596	0.55110	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88124	-2.31;-2.34	4.92	4.92	0.64577	.	2.630220	0.00827	N	0.001626	D	0.87803	0.6269	L	0.50919	1.6	0.48762	D	0.999704	B;B	0.18310	0.006;0.027	B;B	0.12156	0.007;0.007	T	0.59107	-0.7516	10	0.42905	T	0.14	.	17.1152	0.86687	0.0:1.0:0.0:0.0	.	675;695	O15119-2;O15119	.;TBX3_HUMAN	H	675;695;552	ENSP00000257567:R675H;ENSP00000257566:R695H	ENSP00000257566:R695H	R	-	2	0	TBX3	113594177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.526000	0.53509	2.282000	0.76494	0.563000	0.77884	CGC	TBX3	-	NULL		0.687	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	C	NM_016569, NM_005996		115109794	-1	no_errors	ENST00000257566	ensembl	human	known	70_37	missense	SNP	1.000	T	T	115109794	C	T	115109794	3	4	186	1	0	0	0	0	1	0	0	0	15689	768	27	2	151	2	TBX3	12	115109794	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	13340281	115109794	18742101	170	36093										
CIT	11113	genome.wustl.edu	37	chr12	120159185	120159185	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atcagcccgatctagagcttCttgcagtccttgagtcagac	9	12	4	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:120159185C>T	ENST00000261833.7	-	28	3587	c.3535G>A	c.(3535-3537)Gaa>Aaa	p.E1179K	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.E1221K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1179	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTAGAGCTTCTTGCAGTCCT	0.478																																																	0													168	147	154					12																	120159185		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3535G>A	12.37:g.120159185C>T	ENSP00000261833:p.Glu1179Lys		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E1179K	ENST00000261833.7	37	c.3535	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600599	0.66332	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.66995	-0.22;-0.24	5.91	5.91	0.95273	.	0.112119	0.64402	D	0.000014	T	0.63248	0.2495	L	0.34521	1.04	0.80722	D	1	P;P;P	0.46395	0.877;0.877;0.589	B;B;B	0.43194	0.411;0.411;0.114	T	0.66360	-0.5943	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1221;1179;712	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	K	1221;1179	ENSP00000376306:E1221K;ENSP00000261833:E1179K	ENSP00000261833:E1179K	E	-	1	0	CIT	118643568	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAA	CIT	-	pirsf_Citron_Rho-interacting_kinase		0.478	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	C	NM_007174		120159185	-1	no_errors	ENST00000261833	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120159185	C	T	120159185	3	4	186	1	0	0	0	0	1	0	0	0	3443	922	32	1	2628	1	CIT	12	120159185	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	5049391	120159185	13692710	171	36094										
MORN3	283385	genome.wustl.edu	37	chr12	122097188	122097188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgagggtgccgtagccgtctCgcttcccaaacttccagtcc	10	15	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:122097188C>T	ENST00000355329.3	-	2	382	c.212G>A	c.(211-213)cGa>cAa	p.R71Q		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	71						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GTAGCCGTCTCGCTTCCCAAA	0.537																																																	0													157	125	136					12																	122097188		2203	4300	6503	SO:0001583	missense	283385			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.212G>A	12.37:g.122097188C>T	ENSP00000347486:p.Arg71Gln		Q86YQ9	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R71Q	ENST00000355329.3	37	c.212	CCDS31917.1	12	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861952	0.71949	.	.	ENSG00000139714	ENST00000355329	T	0.59364	0.27	5.23	4.34	0.51931	.	0.285833	0.33346	N	0.005020	T	0.69744	0.3145	L	0.58925	1.835	0.48288	D	0.999621	D	0.89917	1.0	D	0.87578	0.998	T	0.67118	-0.5751	10	0.30854	T	0.27	.	12.448	0.55662	0.0:0.9172:0.0:0.0828	.	71	Q6PF18	MORN3_HUMAN	Q	71	ENSP00000347486:R71Q	ENSP00000347486:R71Q	R	-	2	0	MORN3	120581571	1.000000	0.71417	0.997000	0.53966	0.329000	0.28539	4.846000	0.62860	1.200000	0.43188	0.563000	0.77884	CGA	MORN3	-	pfam_MORN,smart_MORN		0.537	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	HGNC	protein_coding	OTTHUMT00000402154.1	C	NM_173855		122097188	-1	no_errors	ENST00000355329	ensembl	human	known	70_37	missense	SNP	0.998	T	T	122097188	C	T	122097188	3	4	186	1	0	0	0	0	1	0	0	0	9732	884	31	1	526	1	MORN3	12	122097188	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1938003	122097188	11754707	172	36095										
SBNO1	55206	genome.wustl.edu	37	chr12	123798237	123798237	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tccaagtttacaatggatttCatgacaatttctaaagcatt	5	7	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:123798237C>T	ENST00000602398.1	-	24	3277	c.3150G>A	c.(3148-3150)atG>atA	p.M1050I	SBNO1_ENST00000602750.1_Missense_Mutation_p.M1049I|SBNO1_ENST00000267176.4_Missense_Mutation_p.M1049I|SBNO1_ENST00000420886.2_Missense_Mutation_p.M1050I			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1050					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATGGATTTCATGACAATTT	0.333																																																	0													69	71	70					12																	123798237		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3150G>A	12.37:g.123798237C>T	ENSP00000473665:p.Met1050Ile		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.M1050I	ENST00000602398.1	37	c.3150	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480395	0.84747	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.31247	1.5;1.5	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.53617	1.68	0.54753	D	0.999981	P;P;B	0.42757	0.789;0.75;0.134	B;B;B	0.44224	0.444;0.316;0.11	T	0.04825	-1.0924	10	0.32370	T	0.25	-18.6342	19.4863	0.95030	0.0:1.0:0.0:0.0	.	1050;1049;161	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	I	1050;1049	ENSP00000387361:M1050I;ENSP00000267176:M1049I	ENSP00000267176:M1049I	M	-	3	0	SBNO1	122364190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.545000	0.82128	2.618000	0.88619	0.591000	0.81541	ATG	SBNO1	-	NULL		0.333	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123798237	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123798237	C	T	123798237	3	4	186	1	0	0	0	0	1	0	0	0	13892	826	29	1	1067	1	SBNO1	12	123798237	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1701049	123798237	10053658	173	36096										
SBNO1	55206	genome.wustl.edu	37	chr12	123801789	123801789	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaactgttgaattgctctatCagcgctccaaggtaattcta	8	9	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:123801789C>T	ENST00000602398.1	-	21	3041	c.2914G>A	c.(2914-2916)Gat>Aat	p.D972N	SBNO1_ENST00000602750.1_Missense_Mutation_p.D971N|SBNO1_ENST00000267176.4_Missense_Mutation_p.D971N|SBNO1_ENST00000420886.2_Missense_Mutation_p.D972N			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	972					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTGCTCTATCAGCGCTCCAA	0.413																																																	0													152	140	144					12																	123801789		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2914G>A	12.37:g.123801789C>T	ENSP00000473665:p.Asp972Asn		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.D972N	ENST00000602398.1	37	c.2914	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984908	0.93044	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.75704	-0.96;-0.96	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.89563	0.6751	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90739	0.4648	10	0.87932	D	0	-33.265	20.139	0.98050	0.0:1.0:0.0:0.0	.	972;971	A3KN83;A3KN83-2	SBNO1_HUMAN;.	N	972;971	ENSP00000387361:D972N;ENSP00000267176:D971N	ENSP00000267176:D971N	D	-	1	0	SBNO1	122367742	1.000000	0.71417	0.996000	0.52242	0.524000	0.34500	7.760000	0.85248	2.764000	0.94973	0.655000	0.94253	GAT	SBNO1	-	NULL		0.413	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123801789	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T	T	123801789	C	T	123801789	3	4	186	1	0	0	0	0	1	0	0	0	13892	826	29	1	1315	1	SBNO1	12	123801789	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	3552	123801789	10050106	174	36097										
SBNO1	55206	genome.wustl.edu	37	chr12	123805113	123805113	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agccctttccacagcatcctGacttgttataaggctactgt	7	12	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:123805113G>A	ENST00000602398.1	-	19	2660	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q844*|SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q844*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.Q845*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	845					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACAGCATCCTGACTTGTTATA	0.363																																																	0													143	141	142					12																	123805113		2203	4300	6503	SO:0001587	stop_gained	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2533C>T	12.37:g.123805113G>A	ENSP00000473665:p.Gln845*		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.Q845*	ENST00000602398.1	37	c.2533	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.160220	0.98683	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	.	.	.	5.72	5.72	0.89469	.	0.063724	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-11.7753	19.8879	0.96917	0.0:0.0:1.0:0.0	.	.	.	.	X	845;844	.	ENSP00000267176:Q844X	Q	-	1	0	SBNO1	122371066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.373000	0.97168	2.693000	0.91896	0.655000	0.94253	CAG	SBNO1	-	NULL		0.363	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	G	NM_018183		123805113	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	123805113	G	A	123805113	4	1	186	1	0	0	0	0	0	1	0	0	13892	1299	45	1	1704	1	SBNO1	12	123805113	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3324	123805113	10046782	175	36098										
ANKLE2	23141	genome.wustl.edu	37	chr12	133331702	133331702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tttcaatcgagccaacagagCatccattgtcatttcaccta	5	12	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:133331702C>T	ENST00000357997.5	-	2	288	c.199G>A	c.(199-201)Gct>Act	p.A67T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.A67T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.A5T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	67					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GCCAACAGAGCATCCATTGTC	0.413																																																	0													76	71	73					12																	133331702		1866	4112	5978	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.199G>A	12.37:g.133331702C>T	ENSP00000350686:p.Ala67Thr		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM	p.A67T	ENST00000357997.5	37	c.199	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	C	9.503	1.103750	0.20632	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.34667	1.78;1.76;1.35	5.4	0.0324	0.14175	LEM-like domain (1);	0.524030	0.22043	N	0.065424	T	0.16128	0.0388	N	0.19112	0.55	0.25674	N	0.985868	B;B	0.32693	0.056;0.38	B;B	0.25759	0.04;0.063	T	0.11966	-1.0566	10	0.30078	T	0.28	-7.6922	4.9913	0.14216	0.1288:0.5038:0.0:0.3674	.	67;67	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	5;67;67	ENSP00000446268:A5T;ENSP00000350686:A67T;ENSP00000337651:A67T	ENSP00000337651:A67T	A	-	1	0	ANKLE2	131841775	0.002000	0.14202	0.051000	0.19133	0.459000	0.32528	-0.563000	0.05943	-0.024000	0.13941	0.644000	0.83932	GCT	ANKLE2	-	superfamily_LEM-like_dom		0.413	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	C			133331702	-1	no_errors	ENST00000357997	ensembl	human	known	70_37	missense	SNP	0.413	T	T	133331702	C	T	133331702	3	4	186	1	0	0	0	0	1	0	0	0	633	710	25	4	2665	4	ANKLE2	12	133331702	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	9526589	133331702	520193	176	36099										
PSPC1	55269	genome.wustl.edu	37	chr13	20325522	20325522	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgctcacgctgctgcttttCcatttcatcaagagccttcc	6	15	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:20325522C>G	ENST00000338910.4	-	4	1015	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	286	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGCTGCTTTTCCATTTCATCA	0.423																																																	0													175	159	164					13																	20325522		1910	4129	6039	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.856G>C	13.37:g.20325522C>G	ENSP00000343966:p.Glu286Gln		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.E286Q	ENST00000338910.4	37	c.856	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938372	0.92526	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.17528	2.27	4.83	4.83	0.62350	.	0.112785	0.64402	D	0.000013	T	0.35335	0.0928	M	0.71036	2.16	0.80722	D	1	D	0.54601	0.967	P	0.53912	0.737	T	0.12400	-1.0549	10	0.49607	T	0.09	-17.284	18.2964	0.90147	0.0:1.0:0.0:0.0	.	286	Q8WXF1	PSPC1_HUMAN	Q	286;226	ENSP00000343966:E286Q	ENSP00000343966:E286Q	E	-	1	0	PSPC1	19223522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	2.399000	0.81585	0.555000	0.69702	GAA	PSPC1	-	NULL		0.423	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	C			20325522	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20325522	C	G	20325522	3	3	186	1	0	0	0	0	1	0	0	0	12743	864	30	1	739	1	PSPC1	13	20325522	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		20325522	94844356	177	36100										
PSPC1	55269	genome.wustl.edu	37	chr13	20325600	20325600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agcaaaacgtggtggttgttCtctttccctaaattaacatt	7	8	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:20325600C>G	ENST00000338910.4	-	4	937	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	260	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGTGGTTGTTCTCTTTCCCTA	0.393																																																	0													58	52	54					13																	20325600		1847	4096	5943	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.778G>C	13.37:g.20325600C>G	ENSP00000343966:p.Glu260Gln		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.E260Q	ENST00000338910.4	37	c.778	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764356	0.69878	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.16073	2.37	5.03	5.03	0.67393	NOPS (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.67397	2.05	0.80722	D	1	B	0.24721	0.11	B	0.39152	0.292	T	0.12863	-1.0531	10	0.52906	T	0.07	-17.27	18.737	0.91759	0.0:1.0:0.0:0.0	.	260	Q8WXF1	PSPC1_HUMAN	Q	260;200	ENSP00000343966:E260Q	ENSP00000343966:E260Q	E	-	1	0	PSPC1	19223600	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.886000	0.69743	2.506000	0.84524	0.555000	0.69702	GAA	PSPC1	-	pfam_NOPS		0.393	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	C			20325600	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	G	G	20325600	C	G	20325600	3	3	186	1	0	0	0	0	1	0	0	0	12743	922	32	1	817	1	PSPC1	13	20325600	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	78	20325600	94844278	178	36101										
USPL1	10208	genome.wustl.edu	37	chr13	31205523	31205523	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	accgtgactggactgtgctcGaaggaggaatctatattctg	12	8	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:31205523G>A	ENST00000255304.4	+	4	1122	c.780G>A	c.(778-780)tcG>tcA	p.S260S	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	260	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GACTGTGCTCGAAGGAGGAAT	0.408																																					Ovarian(60;318 1180 1554 28110 31601)												0													135	135	135					13																	31205523		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.780G>A	13.37:g.31205523G>A			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.S260	ENST00000255304.4	37	c.780	CCDS9336.1	13																																																																																			USPL1	-	pfscan_Peptidase_C19		0.408	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31205523	1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.000	A	A	31205523	G	A	31205523	2	1	186	1	0	0	0	0	0	0	0	1	17123	1045	37	1		1	USPL1	13	31205523	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	10879923	31205523	83964355	179	36102										
C13orf23	80209	genome.wustl.edu	37	chr13	39587134	39587134	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgagactggtgctgaagcaGaaagccctgagagaacagct	13	9	0	5			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:39587134G>C	ENST00000352251.3	-	11	3088	c.2255C>G	c.(2254-2256)tCt>tGt	p.S752C	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S730C	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	752	Ser-rich.																TGCTGAAGCAGAAAGCCCTGA	0.522																																																	0													144	151	149					13																	39587134		2203	4300	6503	SO:0001583	missense	80209			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2255C>G	13.37:g.39587134G>C	ENSP00000332034:p.Ser752Cys		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.S730C	ENST00000352251.3	37	c.2189	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151479	0.57151	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.33438	1.42;1.41	5.21	5.21	0.72293	.	.	.	.	.	T	0.32071	0.0817	N	0.24115	0.695	0.20403	N	0.999907	D;P	0.54964	0.969;0.786	P;B	0.49528	0.614;0.346	T	0.17440	-1.0369	8	.	.	.	-13.6034	18.0846	0.89453	0.0:0.0:1.0:0.0	.	730;752	A6NJ97;Q86XN7	.;PRSR1_HUMAN	C	752;730	ENSP00000332034:S752C;ENSP00000339123:S730C	.	S	-	2	0	PROSER1	38485134	0.572000	0.26668	0.013000	0.15412	0.406000	0.30931	4.605000	0.61119	2.583000	0.87209	0.561000	0.74099	TCT	PROSER1	-	NULL		0.522	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	G	NM_025138		39587134	-1	no_errors	ENST00000350125	ensembl	human	known	70_37	missense	SNP	0.376	C	C	39587134	G	C	39587134	3	2	186	1	0	0	0	0	1	0	0	0	1725	942	33	1	591	1	C13orf23	13	39587134	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	8381611	39587134	75582744	180	36103										
LMO7	4008	genome.wustl.edu	37	chr13	76374891	76374891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggtgacatctggtgtcctgaAcgtggagaatttcttgctcc	12	9	2	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:76374891A>C	ENST00000341547.4	+	8	1950	c.690A>C	c.(688-690)gaA>gaC	p.E230D	LMO7_ENST00000357063.3_Missense_Mutation_p.E230D|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.E139D|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.E230D	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	230					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGTGTCCTGAACGTGGAGAAT	0.468																																																	0													104	102	103					13																	76374891		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.690A>C	13.37:g.76374891A>C	ENSP00000342112:p.Glu230Asp		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.E230D	ENST00000341547.4	37	c.690	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657874	0.29425	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.56444	1.07;0.97;0.98;0.56;0.46	5.52	-5.91	0.02269	.	0.233745	0.41938	N	0.000800	T	0.29389	0.0732	L	0.31207	0.915	0.21105	N	0.999781	B;B;B	0.14805	0.004;0.002;0.011	B;B;B	0.17979	0.02;0.009;0.01	T	0.04373	-1.0956	10	0.49607	T	0.09	-3.826	4.4409	0.11573	0.2324:0.4046:0.2812:0.0817	.	139;230;178	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	D	230;230;230;178;139	ENSP00000342112:E230D;ENSP00000349571:E230D;ENSP00000366757:E230D;ENSP00000366719:E178D;ENSP00000431129:E139D	ENSP00000342112:E230D	E	+	3	2	LMO7	75272892	0.833000	0.29383	0.001000	0.08648	0.686000	0.39977	-0.064000	0.11636	-1.328000	0.02261	-0.438000	0.05819	GAA	LMO7	-	NULL		0.468	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	A	NM_005358		76374891	1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	0.280	C	C	76374891	A	C	76374891	3	2	186	1	0	0	0	0	1	0	0	0	8876	40	2	5	720	5	LMO7	13	76374891	Missense_Mutation	SNP	A	TCGA-Q1-A73P-01A-11D-A32I-09	36787757	76374891	38794987	181	36104										
LMO7	4008	genome.wustl.edu	37	chr13	76374956	76374956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttcctttgaaagcttggactCtttgggctcgaggtcattga	11	8	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:76374956C>G	ENST00000341547.4	+	8	2015	c.755C>G	c.(754-756)tCt>tGt	p.S252C	LMO7_ENST00000357063.3_Missense_Mutation_p.S252C|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.S161C|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.S252C	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	252					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTTGGACTCTTTGGGCTCG	0.488																																																	0													173	178	176					13																	76374956		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.755C>G	13.37:g.76374956C>G	ENSP00000342112:p.Ser252Cys		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S252C	ENST00000341547.4	37	c.755	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991067	0.93106	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.70516	0.22;0.12;0.12;-0.23;-0.49	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85431	0.5695	M	0.78637	2.42	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86331	0.1698	10	0.87932	D	0	-15.2082	19.869	0.96843	0.0:1.0:0.0:0.0	.	161;252;200	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	C	252;252;252;200;161	ENSP00000342112:S252C;ENSP00000349571:S252C;ENSP00000366757:S252C;ENSP00000366719:S200C;ENSP00000431129:S161C	ENSP00000342112:S252C	S	+	2	0	LMO7	75272957	1.000000	0.71417	0.984000	0.44739	0.905000	0.53344	7.205000	0.77881	2.709000	0.92574	0.591000	0.81541	TCT	LMO7	-	NULL		0.488	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	C	NM_005358		76374956	1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	1.000	G	G	76374956	C	G	76374956	3	3	186	1	0	0	0	0	1	0	0	0	8876	913	32	1	785	1	LMO7	13	76374956	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	65	76374956	38794922	182	36105										
RASA3	22821	genome.wustl.edu	37	chr13	114758023	114758023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agtagatacgctccgtctcaCggtccccatcaatgtccagc	8	15	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:114758023C>T	ENST00000334062.7	-	22	2304	c.2183G>A	c.(2182-2184)cGt>cAt	p.R728H	RASA3_ENST00000389544.4_Missense_Mutation_p.R696H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	728					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCCGTCTCACGGTCCCCATC	0.507																																																	0													112	82	92					13																	114758023		2202	4299	6501	SO:0001583	missense	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2183G>A	13.37:g.114758023C>T	ENSP00000335029:p.Arg728His		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.R728H	ENST00000334062.7	37	c.2183	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156456	0.78114	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.87571	-2.17;-2.27	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93032	0.6449	9	.	.	.	.	18.4236	0.90600	0.0:1.0:0.0:0.0	.	728	Q14644	RASA3_HUMAN	H	728;696	ENSP00000335029:R728H;ENSP00000374195:R696H	.	R	-	2	0	RASA3	113776125	1.000000	0.71417	0.949000	0.38748	0.324000	0.28378	6.879000	0.75572	2.353000	0.79882	0.655000	0.94253	CGT	RASA3	-	NULL		0.507	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	C	NM_007368		114758023	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	missense	SNP	1.000	T	T	114758023	C	T	114758023	3	4	186	1	0	0	0	0	1	0	0	0	13092	536	19	2	333	2	RASA3	13	114758023	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	38383067	114758023	411855	183	36106										
ACIN1	22985	genome.wustl.edu	37	chr14	23564376	23564376	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tcgggcatcttcggtaatttCcgccaacgcccttcgaacgt	9	14	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:23564376C>G	ENST00000262710.1	-	1	447	c.120G>C	c.(118-120)cgG>cgC	p.R40R	ACIN1_ENST00000457657.1_Silent_p.R40R|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000605057.1_5'Flank|ACIN1_ENST00000555053.1_Silent_p.R40R|C14orf119_ENST00000554203.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	40					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCGGTAATTTCCGCCAACGCC	0.617																																																	0													66	64	65					14																	23564376		2203	4300	6503	SO:0001819	synonymous_variant	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.120G>C	14.37:g.23564376C>G			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R40	ENST00000262710.1	37	c.120	CCDS9587.1	14																																																																																			ACIN1	-	NULL		0.617	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	C	NM_014977		23564376	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	silent	SNP	1.000	G	G	23564376	C	G	23564376	2	3	186	1	0	0	0	0	0	0	0	1	142	842	30	1		1	ACIN1	14	23564376	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		23564376	83785164	184	36107										
ARHGAP5	394	genome.wustl.edu	37	chr14	32560776	32560776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtaataaattaaaaaatcatCctgattatgaagaatacatc	4	5	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:32560776C>T	ENST00000345122.3	+	2	1216	c.901C>T	c.(901-903)Cct>Tct	p.P301S	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P301S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P301S|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P301S|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	301	FF 1.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAAAATCATCCTGATTATGA	0.313																																					NSCLC(9;77 350 3443 29227 41353)												0													71	81	78					14																	32560776		2194	4283	6477	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.901C>T	14.37:g.32560776C>T	ENSP00000371897:p.Pro301Ser		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.P301S	ENST00000345122.3	37	c.901	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	C	8.636	0.894879	0.17613	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.64	5.64	0.86602	FF domain (1);	0.168623	0.52532	D	0.000066	T	0.10035	0.0246	L	0.31065	0.9	0.45118	D	0.998136	B;B	0.19445	0.036;0.021	B;B	0.23150	0.044;0.02	T	0.08391	-1.0724	10	0.51188	T	0.08	.	12.9733	0.58525	0.0:0.9261:0.0:0.0739	.	301;301	Q13017-2;Q13017	.;RHG05_HUMAN	S	301	ENSP00000452222:P301S;ENSP00000441692:P301S;ENSP00000371897:P301S;ENSP00000393307:P301S	ENSP00000371897:P301S	P	+	1	0	ARHGAP5	31630527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.298000	0.43602	2.646000	0.89796	0.563000	0.77884	CCT	ARHGAP5	-	superfamily_FF_domain,smart_FF_domain		0.313	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	C	NM_001030055		32560776	1	no_errors	ENST00000345122	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32560776	C	T	32560776	3	4	186	1	0	0	0	0	1	0	0	0	886	855	30	1	903	1	ARHGAP5	14	32560776	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	8996400	32560776	74788764	185	36108										
NPAS3	64067	genome.wustl.edu	37	chr14	34269677	34269677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tcctcaccccgcccggcgccGacggcgcggccgcccgcaag	13	22	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:34269677G>A	ENST00000356141.4	+	12	2164	c.2164G>A	c.(2164-2166)Gac>Aac	p.D722N	NPAS3_ENST00000346562.2_Missense_Mutation_p.D690N|NPAS3_ENST00000548645.1_Missense_Mutation_p.D692N|NPAS3_ENST00000357798.5_Missense_Mutation_p.D709N|NPAS3_ENST00000551492.1_Missense_Mutation_p.D727N			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	722	Gly-rich.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		gcccggcgccgacggcgcggc	0.796																																																	0													2	3	3					14																	34269677		939	2206	3145	SO:0001583	missense	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2164G>A	14.37:g.34269677G>A	ENSP00000348460:p.Asp722Asn		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.D722N	ENST00000356141.4	37	c.2164	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358758	0.41801	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.06849	3.52;3.39;3.39;3.39;3.39;3.25	4.74	3.85	0.44370	.	0.125026	0.51477	N	0.000092	T	0.06050	0.0157	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.25676	-1.0125	10	0.72032	D	0.01	.	12.5432	0.56184	0.0801:0.0:0.9198:0.0	.	692;722;690;709	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	N	696;727;690;692;722;709	ENSP00000448373:D696N;ENSP00000450392:D727N;ENSP00000319610:D690N;ENSP00000448916:D692N;ENSP00000348460:D722N;ENSP00000350446:D709N	ENSP00000319610:D690N	D	+	1	0	NPAS3	33339428	1.000000	0.71417	0.993000	0.49108	0.641000	0.38312	8.509000	0.90529	1.203000	0.43233	0.555000	0.69702	GAC	NPAS3	-	NULL		0.796	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	G			34269677	1	no_errors	ENST00000356141	ensembl	human	known	70_37	missense	SNP	1.000	A	A	34269677	G	A	34269677	3	1	186	1	0	0	0	0	1	0	0	0	10588	1058	37	1	2265	1	NPAS3	14	34269677	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	1708901	34269677	73079863	186	36109										
KTN1	3895	genome.wustl.edu	37	chr14	56083234	56083234	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttttgtttgtgtttaataaaGatgaccaggataaaaaggtg	10	2	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:56083234G>A	ENST00000395314.3	+	3	591		c.e3-1		KTN1_ENST00000395309.3_Splice_Site|KTN1_ENST00000395308.1_Splice_Site|KTN1_ENST00000416613.1_Splice_Site|KTN1_ENST00000395311.1_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000413890.2_Splice_Site	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)						microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTTTAATAAAGATGACCAGGA	0.363			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													72	67	69					14																	56083234		2203	4300	6503	SO:0001630	splice_region_variant	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.524-1G>A	14.37:g.56083234G>A			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Splice_Site	SNP	-	e2-1	ENST00000395314.3	37	c.524-1	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902448	0.72754	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6286	0.88100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KTN1	55152987	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.888000	0.63164	2.617000	0.88574	0.655000	0.94253	.	KTN1	-	-		0.363	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G		Intron	56083234	1	no_errors	ENST00000395309	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	56083234	G	A	56083234	5	1	186	1	0	0	0	0	0	0	1	0	8605	956	33	1	529	1	KTN1	14	56083234	Splice_Site	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	21813557	56083234	51266306	187	36110										
HIF1A	3091	genome.wustl.edu	37	chr14	62207503	62207503	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tagacttggagatgttagctCcctatatcccaatggatgat	9	8	0	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:62207503C>G	ENST00000337138.4	+	12	1955	c.1690C>G	c.(1690-1692)Ccc>Gcc	p.P564A	HIF1A_ENST00000557538.1_Missense_Mutation_p.P505A|HIF1A_ENST00000394997.1_Missense_Mutation_p.P565A|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.P564A|HIF1A_ENST00000539097.1_Missense_Mutation_p.P588A|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	564	C-terminal VHL recognition site.|NTAD.|ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GATGTTAGCTCCCTATATCCC	0.398																																																	0													148	140	143					14																	62207503		2203	4300	6503	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1690C>G	14.37:g.62207503C>G	ENSP00000338018:p.Pro564Ala		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.P588A	ENST00000337138.4	37	c.1762	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859456	0.91433	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	D;D;D;D;D	0.99511	-6.05;-6.05;-6.05;-6.05;-6.05	6.02	6.02	0.97574	.	0.049167	0.85682	D	0.000000	D	0.99530	0.9832	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99035	1.0822	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	565;564;564	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	A	315;505;564;565;564;505;588	ENSP00000338018:P564A;ENSP00000378446:P565A;ENSP00000323326:P564A;ENSP00000451696:P505A;ENSP00000437955:P588A	ENSP00000323326:P564A	P	+	1	0	HIF1A	61277256	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.814000	0.86154	2.857000	0.98124	0.650000	0.86243	CCC	HIF1A	-	pfam_HIF_alpha_subunit		0.398	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	C	NM_001530		62207503	1	no_errors	ENST00000539097	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62207503	C	G	62207503	3	3	186	1	0	0	0	0	1	0	0	0	7123	855	30	1	1736	1	HIF1A	14	62207503	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6124269	62207503	45142037	188	36111										
NEK9	91754	genome.wustl.edu	37	chr14	75590851	75590851	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cagtgccagaataacaatctCattcaaggcatcacgacgtt	7	11	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:75590851C>T	ENST00000238616.5	-	2	453	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	99	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATAACAATCTCATTCAAGGCA	0.453																																																	0													199	152	168					14																	75590851		2203	4300	6503	SO:0001583	missense	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.295G>A	14.37:g.75590851C>T	ENSP00000238616:p.Glu99Lys		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E99K	ENST00000238616.5	37	c.295	CCDS9839.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.245008	0.97408	.	.	ENSG00000119638	ENST00000238616;ENST00000540227	T	0.64803	-0.12	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89322	0.6682	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92698	0.6172	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	99	Q8TD19	NEK9_HUMAN	K	99;81	ENSP00000238616:E99K	ENSP00000238616:E99K	E	-	1	0	NEK9	74660604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG	NEK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.453	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	C	NM_033116		75590851	-1	no_errors	ENST00000238616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75590851	C	T	75590851	3	4	186	1	0	0	0	0	1	0	0	0	10355	835	29	1	2728	1	NEK9	14	75590851	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	13383348	75590851	31758689	189	36112										
TTLL5	23093	genome.wustl.edu	37	chr14	76165591	76165591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agtggcatcttcaagggggcGgggcgtctacctgatcaaca	14	10	4	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:76165591G>A	ENST00000298832.9	+	7	768	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	TTLL5_ENST00000557636.1_Missense_Mutation_p.R188Q|TTLL5_ENST00000286650.5_Missense_Mutation_p.R188Q|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	188	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCAAGGGGGCGGGGCGTCTAC	0.433																																																	0													86	80	82					14																	76165591		2203	4300	6503	SO:0001583	missense	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.563G>A	14.37:g.76165591G>A	ENSP00000298832:p.Arg188Gln		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R188Q	ENST00000298832.9	37	c.563	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.601031	0.96614	.	.	ENSG00000119685	ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.09350	2.99;3.45;2.99	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.976;0.986;0.969	T	0.01464	-1.1348	10	0.59425	D	0.04	.	17.8457	0.88729	0.0:0.0:1.0:0.0	.	188;188;188	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	Q	188	ENSP00000450713:R188Q;ENSP00000286650:R188Q;ENSP00000298832:R188Q	ENSP00000286650:R188Q	R	+	2	0	TTLL5	75235344	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	8.864000	0.92294	2.744000	0.94065	0.655000	0.94253	CGG	TTLL5	-	pfam_Tub_tyr_ligase		0.433	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	G	NM_015072		76165591	1	no_errors	ENST00000298832	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76165591	G	A	76165591	3	1	186	1	0	0	0	0	1	0	0	0	16761	1116	39	2	585	2	TTLL5	14	76165591	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	574740	76165591	31183949	190	36113										
SMEK1	55671	genome.wustl.edu	37	chr14	91948480	91948480	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	catatcatcaaaacgctcctCttcagattcatccacaaggt	4	13	5	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:91948480C>G	ENST00000554943.1	-	4	470	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Missense_Mutation_p.E119Q|SMEK1_ENST00000554684.1_Missense_Mutation_p.E119Q|SMEK1_ENST00000428424.2_Intron			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	119					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AAACGCTCCTCTTCAGATTCA	0.408																																																	0													76	72	74					14																	91948480		2203	4300	6503	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.355G>C	14.37:g.91948480C>G	ENSP00000450883:p.Glu119Gln		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E119Q	ENST00000554943.1	37	c.355		14	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006924	0.93287	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000554943;ENST00000554390;ENST00000557018	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	6.07	6.07	0.98685	.	0.045353	0.85682	D	0.000000	T	0.47764	0.1463	M	0.70787	2.145	0.80722	D	1	B;B	0.34226	0.443;0.219	B;B	0.33960	0.173;0.122	T	0.36432	-0.9748	10	0.30078	T	0.28	-17.1259	20.6593	0.99626	0.0:1.0:0.0:0.0	.	119;119	Q6IN85;Q6IN85-2	P4R3A_HUMAN;.	Q	119	ENSP00000450864:E119Q;ENSP00000337125:E119Q;ENSP00000450883:E119Q;ENSP00000452596:E119Q;ENSP00000450432:E119Q	ENSP00000337125:E119Q	E	-	1	0	SMEK1	91018233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAG	SMEK1	-	NULL		0.408	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91948480	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91948480	C	G	91948480	3	3	186	1	0	0	0	0	1	0	0	0	14823	922	32	1	2155	1	SMEK1	14	91948480	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	15782889	91948480	15401060	191	36114										
BDKRB1	623	genome.wustl.edu	37	chr14	96730334	96730334	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aaccagtttaactggcctttCggagccctcctctgccgtgt	9	14	1	0	rs370873606		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:96730334C>T	ENST00000216629.6	+	3	921	c.315C>T	c.(313-315)ttC>ttT	p.F105F	BDKRB1_ENST00000553356.1_Silent_p.F105F|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	105					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ACTGGCCTTTCGGAGCCCTCC	0.557																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	77	76	76		315	-1.5	0.7	14		76	0,8600		0,0,4300	no	coding-synonymous	BDKRB1	NM_000710.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		105/354	96730334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.315C>T	14.37:g.96730334C>T			A8K7F5|Q546S7|Q8N0Y8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_BK_rcpt_B1,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt	p.F105	ENST00000216629.6	37	c.315	CCDS9943.1	14																																																																																			BDKRB1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB1	HGNC	protein_coding	OTTHUMT00000413300.1	C			96730334	1	no_errors	ENST00000216629	ensembl	human	known	70_37	silent	SNP	0.975	T	T	96730334	C	T	96730334	2	4	186	1	0	0	0	0	0	0	0	1	1393	883	31	1		1	BDKRB1	14	96730334	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4781854	96730334	10619206	192	36115										
MAGEL2	54551	genome.wustl.edu	37	chr15	23889144	23889144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atctctgctacacctattagCggggagggggcctgctggtg	15	10	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:23889144C>T	ENST00000532292.1	-	1	2031	c.1937G>A	c.(1936-1938)cGc>cAc	p.R646H		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	529					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.R646H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACCTATTAGCGGGGAGGGGG	0.582																																																	1	Substitution - Missense(1)	endometrium(1)											24	27	26					15																	23889144		1996	4164	6160	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1937G>A	15.37:g.23889144C>T	ENSP00000433433:p.Arg646His			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R646H	ENST00000532292.1	37	c.1937		15	.	.	.	.	.	.	.	.	.	.	C	3.425	-0.117244	0.06838	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.28	-3.18	0.05186	.	.	.	.	.	T	0.14013	0.0339	N	0.03115	-0.41	0.09310	N	1	.	.	.	.	.	.	T	0.32295	-0.9912	5	.	.	.	.	10.1383	0.42719	0.0:0.3279:0.0:0.6721	.	.	.	.	T	678	.	.	A	-	1	0	MAGEL2	21440237	0.020000	0.18652	0.028000	0.17463	0.029000	0.11900	-1.409000	0.02483	-0.677000	0.05231	-1.340000	0.01251	GCT	MAGEL2	-	NULL		0.582	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	C	NM_019066		23889144	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.037	T	T	23889144	C	T	23889144	3	4	186	1	0	0	0	0	1	0	0	0	9212	768	27	2	7	2	MAGEL2	15	23889144	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		23889144	78642248	193	36116										
GABRB3	2562	genome.wustl.edu	37	chr15	26828494	26828494	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cacacagctttcaatttccaGagtgcagttctgctcgtcca	7	13	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:26828494G>C	ENST00000311550.5	-	5	640	c.529C>G	c.(529-531)Ctg>Gtg	p.L177V	GABRB3_ENST00000299267.4_Missense_Mutation_p.L177V|GABRB3_ENST00000541819.2_Missense_Mutation_p.L233V|GABRB3_ENST00000545868.1_Missense_Mutation_p.L92V|GABRB3_ENST00000400188.3_Missense_Mutation_p.L106V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	177					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAATTTCCAGAGTGCAGTTC	0.423																																																	0													173	158	163					15																	26828494		2203	4300	6503	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.529C>G	15.37:g.26828494G>C	ENSP00000308725:p.Leu177Val		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L177V	ENST00000311550.5	37	c.529	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109433	0.20714	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.98	2.0	0.26442	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	L	0.31526	0.94	0.54753	D	0.999988	D;D;D	0.69078	0.993;0.997;0.994	P;D;D	0.69824	0.873;0.965;0.966	T	0.78912	-0.2017	10	0.35671	T	0.21	.	10.7788	0.46365	0.1697:0.0:0.8303:0.0	.	233;177;177	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	177;233;177;106;92;92	ENSP00000308725:L177V;ENSP00000442408:L233V;ENSP00000299267:L177V;ENSP00000383049:L106V;ENSP00000439169:L92V;ENSP00000452272:L92V	ENSP00000299267:L177V	L	-	1	2	GABRB3	24379587	1.000000	0.71417	0.538000	0.28064	0.970000	0.65996	3.359000	0.52292	0.212000	0.20703	0.650000	0.86243	CTG	GABRB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.423	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	G			26828494	-1	no_errors	ENST00000299267	ensembl	human	known	70_37	missense	SNP	0.998	C	C	26828494	G	C	26828494	3	2	186	1	0	0	0	0	1	0	0	0	6186	933	33	1	912	1	GABRB3	15	26828494	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2939350	26828494	75702898	194	36117										
APBA2	321	genome.wustl.edu	37	chr15	29393976	29393976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agatgatctgccatgtgttcGagtcggaggatgtaagtaag	14	5	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:29393976G>A	ENST00000558402.1	+	11	2112	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	APBA2_ENST00000411764.1_Missense_Mutation_p.E493K|APBA2_ENST00000561069.1_Missense_Mutation_p.E505K|APBA2_ENST00000558259.1_Missense_Mutation_p.E505K|APBA2_ENST00000558330.1_Missense_Mutation_p.E493K			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	505	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCATGTGTTCGAGTCGGAGGA	0.617																																																	0													65	49	54					15																	29393976		2203	4298	6501	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1513G>A	15.37:g.29393976G>A	ENSP00000453293:p.Glu505Lys		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.E505K	ENST00000558402.1	37	c.1513	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790074	0.90367	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.21361	2.01	4.47	4.47	0.54385	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.151013	0.45606	D	0.000353	T	0.49423	0.1556	M	0.79693	2.465	0.80722	D	1	P;D;D;P	0.89917	0.949;1.0;1.0;0.801	P;D;D;P	0.87578	0.623;0.974;0.998;0.487	T	0.54702	-0.8254	10	0.59425	D	0.04	.	16.6604	0.85239	0.0:0.0:1.0:0.0	.	493;197;493;505	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	K	493;505;197	ENSP00000409312:E493K	ENSP00000219865:E505K	E	+	1	0	APBA2	27181268	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	9.352000	0.97076	2.472000	0.83506	0.655000	0.94253	GAG	APBA2	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.617	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	G	NM_005503		29393976	1	no_errors	ENST00000558259	ensembl	human	known	70_37	missense	SNP	1.000	A	A	29393976	G	A	29393976	3	1	186	1	0	0	0	0	1	0	0	0	757	1059	37	1	1539	1	APBA2	15	29393976	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2565482	29393976	73137416	195	36118										
MGA	23269	genome.wustl.edu	37	chr15	42000403	42000403	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtgcttctgcatctaggaatGaaggtaattagttttttaaa	9	4	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:42000403G>C	ENST00000570161.1	+	6	2422	c.2422G>C	c.(2422-2424)Gaa>Caa	p.E808Q	MGA_ENST00000566586.1_Missense_Mutation_p.E808Q|MGA_ENST00000545763.1_Missense_Mutation_p.E808Q|MGA_ENST00000219905.7_Missense_Mutation_p.E808Q|MGA_ENST00000389936.4_Missense_Mutation_p.E808Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCTAGGAATGAAGGTAATTA	0.348																																																	0													46	42	43					15																	42000403		1804	4070	5874	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2422G>C	15.37:g.42000403G>C	ENSP00000457035:p.Glu808Gln		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E808Q	ENST00000570161.1	37	c.2422	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606804	0.87157	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.52983	0.64;0.64;0.64	5.71	5.71	0.89125	.	1.041280	0.07571	N	0.918628	T	0.61489	0.2351	L	0.29908	0.895	0.39310	D	0.965069	D;D	0.65815	0.988;0.995	D;P	0.71184	0.972;0.878	T	0.54105	-0.8343	10	0.87932	D	0	.	15.6745	0.77303	0.0:0.1364:0.8636:0.0	.	808;808	F5H7K2;E7ENI0	.;.	Q	808	ENSP00000219905:E808Q;ENSP00000374586:E808Q;ENSP00000442467:E808Q	ENSP00000219905:E808Q	E	+	1	0	MGA	39787695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.843000	0.69424	2.850000	0.98022	0.655000	0.94253	GAA	MGA	-	NULL		0.348	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		42000403	1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	1.000	C	C	42000403	G	C	42000403	3	2	186	1	0	0	0	0	1	0	0	0	9563	1291	45	1	2444	1	MGA	15	42000403	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	12606427	42000403	60530989	196	36119										
JMJD7	100137047	genome.wustl.edu	37	chr15	42127259	42127259	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atcgcttcatgatgccagctGagcgccgcctgcccctgagc	11	16	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:42127259G>T	ENST00000397299.4	+	3	350	c.310G>T	c.(310-312)Gag>Tag	p.E104*	PLA2G4B_ENST00000542534.2_Nonsense_Mutation_p.E104*|JMJD7-PLA2G4B_ENST00000476036.1_3'UTR|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.E104*|JMJD7_ENST00000408047.1_Nonsense_Mutation_p.E5*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.E104*	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	104										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						GATGCCAGCTGAGCGCCGCCT	0.637																																																	0													86	89	88					15																	42127259		2203	4300	6503	SO:0001587	stop_gained	8681				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.310G>T	15.37:g.42127259G>T	ENSP00000380467:p.Glu104*		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Nonsense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_JmjC_dom,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E104*	ENST00000397299.4	37	c.310	CCDS45240.1	15	.	.	.	.	.	.	.	.	.	.	.	28.8	4.950556	0.92660	.	.	ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000408047;ENST00000431823;ENST00000405106;ENST00000542534;ENST00000335032;ENST00000382448;ENST00000342159	.	.	.	4.54	4.54	0.55810	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-0.1684	17.2878	0.87146	0.0:0.0:1.0:0.0	.	.	.	.	X	104;5;5;5;104;5;104;104	.	ENSP00000380467:E104X	E	+	1	0	JMJD7-PLA2G4B;JMJD7	39914551	1.000000	0.71417	0.892000	0.35008	0.309000	0.27889	9.372000	0.97165	2.232000	0.73038	0.655000	0.94253	GAG	JMJD7-PLA2G4B	-	NULL		0.637	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000326082.1	G	NM_001114632		42127259	1	no_errors	ENST00000382448	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	42127259	G	T	42127259	4	4	186	1	0	0	0	0	0	1	0	0	7974	1291	45	3	320	3	JMJD7	15	42127259	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	126856	42127259	60404133	197	36120										
UBR1	197131	genome.wustl.edu	37	chr15	43270092	43270092	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	acttaccaaaacatgaaacaGatctatagacagaaggcatg	7	8	1	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:43270092G>A	ENST00000290650.4	-	38	4282	c.4204C>T	c.(4204-4206)Ctg>Ttg	p.L1402L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1402					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACATGAAACAGATCTATAGAC	0.303																																																	0													133	121	125					15																	43270092		2203	4295	6498	SO:0001819	synonymous_variant	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4204C>T	15.37:g.43270092G>A			O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L1402	ENST00000290650.4	37	c.4204	CCDS10091.1	15																																																																																			UBR1	-	NULL		0.303	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	G	NM_174916		43270092	-1	no_errors	ENST00000290650	ensembl	human	known	70_37	silent	SNP	0.991	A	A	43270092	G	A	43270092	2	1	186	1	0	0	0	0	0	0	0	1	16932	933	33	1		1	UBR1	15	43270092	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	1142833	43270092	59261300	198	36121										
TP53BP1	7158	genome.wustl.edu	37	chr15	43724676	43724676	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccgtccttctttctggtcttCtagcacatctgtcaccattg	6	14	6	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:43724676C>G	ENST00000263801.3	-	17	3628	c.3376G>C	c.(3376-3378)Gaa>Caa	p.E1126Q	TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1131Q|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1131Q|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1131Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1126					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCTGGTCTTCTAGCACATCT	0.468								Other conserved DNA damage response genes																																									0													135	125	129					15																	43724676		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3376G>C	15.37:g.43724676C>G	ENSP00000263801:p.Glu1126Gln		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.E1131Q	ENST00000263801.3	37	c.3391	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412031	0.25465	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.04275	3.66;3.66;3.68;3.67	5.44	3.52	0.40303	.	0.862072	0.10373	N	0.682601	T	0.07143	0.0181	M	0.62723	1.935	0.09310	N	1	B;B;B;B	0.30686	0.22;0.191;0.29;0.29	B;B;B;B	0.32864	0.058;0.073;0.154;0.154	T	0.38112	-0.9676	10	0.27785	T	0.31	0.0411	6.9519	0.24550	0.1429:0.7043:0.0:0.1528	.	1131;1126;1131;1131	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	Q	1126;1131;1131;1131	ENSP00000263801:E1126Q;ENSP00000371475:E1131Q;ENSP00000371470:E1131Q;ENSP00000393497:E1131Q	ENSP00000263801:E1126Q	E	-	1	0	TP53BP1	41511968	0.001000	0.12720	0.107000	0.21349	0.961000	0.63080	0.408000	0.21065	0.747000	0.32809	0.655000	0.94253	GAA	TP53BP1	-	NULL		0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43724676	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	0.027	G	G	43724676	C	G	43724676	3	3	186	1	0	0	0	0	1	0	0	0	16414	922	32	1	2590	1	TP53BP1	15	43724676	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	454584	43724676	58806716	199	36122										
MAP1A	4130	genome.wustl.edu	37	chr15	43821253	43821253	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agtgtccgtccatcacagctGaggcagccctcgactcagat	10	14	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:43821253G>A	ENST00000300231.5	+	4	8032	c.7582G>A	c.(7582-7584)Gag>Aag	p.E2528K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E2766K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2528K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2528					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CATCACAGCTGAGGCAGCCCT	0.577																																																	0													103	107	106					15																	43821253		2045	4197	6242	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7582G>A	15.37:g.43821253G>A	ENSP00000300231:p.Glu2528Lys		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.E2528K	ENST00000300231.5	37	c.7582	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825637	0.50739	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01725	4.67;4.67;4.67	5.14	5.14	0.70334	.	.	.	.	.	T	0.02929	0.0087	L	0.39898	1.24	0.46260	D	0.998952	P	0.40970	0.734	B	0.39531	0.302	T	0.59584	-0.7427	9	0.51188	T	0.08	-19.8202	18.7812	0.91933	0.0:0.0:1.0:0.0	.	2528	P78559	MAP1A_HUMAN	K	2766;2528;2528	ENSP00000371462:E2766K;ENSP00000382380:E2528K;ENSP00000300231:E2528K	ENSP00000300231:E2528K	E	+	1	0	MAP1A	41608545	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.468000	0.73551	2.660000	0.90430	0.462000	0.41574	GAG	MAP1A	-	NULL		0.577	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43821253	1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43821253	G	A	43821253	3	1	186	1	0	0	0	0	1	0	0	0	9250	1291	45	1	7584	1	MAP1A	15	43821253	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	96577	43821253	58710139	200	36123										
DTWD1	56986	genome.wustl.edu	37	chr15	49935672	49935672	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tatattaaaagagaaatacaGagggcaatatgacaatcttt	7	4	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:49935672G>T	ENST00000251250.6	+	6	1019	c.812G>T	c.(811-813)aGa>aTa	p.R271I	DTWD1_ENST00000558653.1_Missense_Mutation_p.R271I|DTWD1_ENST00000403028.3_Missense_Mutation_p.R271I|DTWD1_ENST00000415425.1_Missense_Mutation_p.R184I	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	271										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		GAGAAATACAGAGGGCAATAT	0.333																																																	0													66	73	71					15																	49935672		2195	4288	6483	SO:0001583	missense	56986			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.812G>T	15.37:g.49935672G>T	ENSP00000251250:p.Arg271Ile		Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	pfam_DTW	p.R271I	ENST00000251250.6	37	c.812	CCDS10132.1	15	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310072	0.40895	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.23950	1.88;1.88	5.51	-1.44	0.08856	DTW (1);	0.536026	0.22968	N	0.053475	T	0.12860	0.0312	L	0.36672	1.1	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15752	-1.0426	9	.	.	.	-4.5785	1.2996	0.02076	0.432:0.2307:0.2153:0.1219	.	184;271	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	I	271;271;184	ENSP00000385399:R271I;ENSP00000251250:R271I	.	R	+	2	0	DTWD1	47722964	0.419000	0.25449	0.993000	0.49108	0.992000	0.81027	-0.009000	0.12765	-0.178000	0.10672	-0.312000	0.09012	AGA	DTWD1	-	pfam_DTW		0.333	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2	G	NM_020234		49935672	1	no_errors	ENST00000251250	ensembl	human	known	70_37	missense	SNP	0.970	T	T	49935672	G	T	49935672	3	4	186	1	0	0	0	0	1	0	0	0	4801	942	33	3	826	3	DTWD1	15	49935672	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	6114419	49935672	52595720	201	36124										
GCOM1	100820829	genome.wustl.edu	37	chr15	57921908	57921908	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tcatcctcacagaaaaccctCgtggatgtgactttggaaaa	8	10	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:57921908C>T	ENST00000267853.5	+	6	628	c.534C>T	c.(532-534)ctC>ctT	p.L178L	GCOM1_ENST00000587652.1_Silent_p.L178L|GCOM1_ENST00000380560.2_Silent_p.L109L|MYZAP_ENST00000380565.4_Silent_p.L178L|GCOM1_ENST00000380568.3_Silent_p.L178L|GCOM1_ENST00000572390.1_Silent_p.L178L|GCOM1_ENST00000380561.2_Silent_p.L147L|GCOM1_ENST00000380569.2_Silent_p.L178L|GCOM1_ENST00000396180.1_Silent_p.L147L|GCOM1_ENST00000574161.1_Silent_p.L178L|POLR2M_ENST00000380563.2_5'UTR			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	178					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											AGAAAACCCTCGTGGATGTGA	0.463																																																	0													78	74	75					15																	57921908		2192	4292	6484	SO:0001819	synonymous_variant	145781			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.534C>T	15.37:g.57921908C>T			D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Silent	SNP	NULL	p.L178	ENST00000267853.5	37	c.534	CCDS10162.1	15																																																																																			GCOM1	-	NULL		0.463	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	HGNC	protein_coding	OTTHUMT00000255716.2	C	NM_001018100		57921908	1	no_errors	ENST00000380569	ensembl	human	known	70_37	silent	SNP	0.450	T	T	57921908	C	T	57921908	2	4	186	1	0	0	0	0	0	0	0	1	6323	871	31	1		1	GCOM1	15	57921908	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	7986236	57921908	44609484	202	36125										
USP3	9960	genome.wustl.edu	37	chr15	63880981	63880981	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	acatacgtagaatttccactGagaggcctagacatgaaatg	9	8	0	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:63880981G>A	ENST00000380324.3	+	13	1425	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L	USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3_ENST00000559711.1_Silent_p.L343L|USP3-AS1_ENST00000561191.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3_ENST00000268049.7_Silent_p.L410L|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000558285.1_Silent_p.L415L|USP3_ENST00000539772.1_Silent_p.L183L|USP3_ENST00000540797.1_Silent_p.L388L|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000558831.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	432	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AATTTCCACTGAGAGGCCTAG	0.383																																																	0													123	124	123					15																	63880981		2203	4300	6503	SO:0001819	synonymous_variant	9960			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1296G>A	15.37:g.63880981G>A			B4DVU5|F5H1A6|Q8WVD0	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L432	ENST00000380324.3	37	c.1296	CCDS32265.1	15																																																																																			USP3	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.383	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP3	HGNC	protein_coding	OTTHUMT00000417773.1	G			63880981	1	no_errors	ENST00000380324	ensembl	human	known	70_37	silent	SNP	1.000	A	A	63880981	G	A	63880981	2	1	186	1	0	0	0	0	0	0	0	1	17091	1277	45	1		1	USP3	15	63880981	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	5959073	63880981	38650411	203	36126										
ZWILCH	55055	genome.wustl.edu	37	chr15	66816043	66816043	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agtggaatcaggagagcccaGaggtcctttgaatcatctct	11	9	3	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:66816043G>C	ENST00000307897.5	+	8	1156	c.776G>C	c.(775-777)aGa>aCa	p.R259T	RPL4_ENST00000564517.1_5'Flank|ZWILCH_ENST00000446801.2_Missense_Mutation_p.R145T|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.R145T|ZWILCH_ENST00000535141.2_Missense_Mutation_p.R145T	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	259					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GGAGAGCCCAGAGGTCCTTTG	0.348																																																	0													135	149	144					15																	66816043		2201	4299	6500	SO:0001583	missense	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.776G>C	15.37:g.66816043G>C	ENSP00000311429:p.Arg259Thr		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	pfam_RZZ-complex_zwilch	p.R259T	ENST00000307897.5	37	c.776	CCDS10219.1	15	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187075	0.57909	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.51817	0.69;0.69;0.69	5.4	4.49	0.54785	.	0.046701	0.85682	D	0.000000	T	0.63570	0.2522	M	0.72894	2.215	0.47037	D	0.999295	D	0.89917	1.0	D	0.75484	0.986	T	0.65520	-0.6148	10	0.72032	D	0.01	-19.4001	8.0726	0.30697	0.0798:0.0:0.7629:0.1573	.	259	Q9H900	ZWILC_HUMAN	T	259;145;145	ENSP00000311429:R259T;ENSP00000402217:R145T;ENSP00000437749:R145T	ENSP00000311429:R259T	R	+	2	0	ZWILCH	64603097	1.000000	0.71417	0.997000	0.53966	0.510000	0.34073	6.147000	0.71783	1.265000	0.44215	0.585000	0.79938	AGA	ZWILCH	-	pfam_RZZ-complex_zwilch		0.348	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4	G	NM_017975		66816043	1	no_errors	ENST00000307897	ensembl	human	known	70_37	missense	SNP	1.000	C	C	66816043	G	C	66816043	3	2	186	1	0	0	0	0	1	0	0	0	18278	942	33	1	806	1	ZWILCH	15	66816043	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2935062	66816043	35715349	204	36127										
CELF6	60677	genome.wustl.edu	37	chr15	72580886	72580886	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cccagtccctcaccttctctCtgctgctggggcagggctga	11	16	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:72580886C>G	ENST00000569547.1	-	10	1238	c.1167G>C	c.(1165-1167)caG>caC	p.Q389H	CELF6_ENST00000543764.2_Missense_Mutation_p.Q252H|CELF6_ENST00000567083.1_Intron|CELF6_ENST00000569311.1_5'Flank|CELF6_ENST00000539635.1_Missense_Mutation_p.Q250H|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.Q276H|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Missense_Mutation_p.Q389H			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	389					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CACCTTCTCTCTGCTGCTGGG	0.632																																																	0													57	60	59					15																	72580886		2199	4297	6496	SO:0001583	missense	60677			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1167G>C	15.37:g.72580886C>G	ENSP00000454749:p.Gln389His		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q389H	ENST00000569547.1	37	c.1167	CCDS10242.1	15	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746966	0.30955	.	.	ENSG00000140488	ENST00000287202;ENST00000543764;ENST00000395258;ENST00000539635	T;T;T;T	0.65178	-0.14;2.12;-0.14;-0.14	5.61	2.1	0.27182	.	0.199618	0.33161	U	0.005210	T	0.77011	0.4068	M	0.83312	2.635	0.43021	D	0.99457	P;B;B;P	0.50819	0.939;0.092;0.187;0.939	D;B;B;D	0.68943	0.961;0.09;0.247;0.961	T	0.76130	-0.3072	10	0.62326	D	0.03	-6.0108	9.9825	0.41821	0.0:0.7835:0.0:0.2165	.	252;276;250;389	B4DG28;Q96J87-2;B3KWE6;Q96J87	.;.;.;CELF6_HUMAN	H	389;252;276;250	ENSP00000287202:Q389H;ENSP00000439956:Q252H;ENSP00000378677:Q276H;ENSP00000443162:Q250H	ENSP00000287202:Q389H	Q	-	3	2	CELF6	70367940	0.901000	0.30685	1.000000	0.80357	0.989000	0.77384	-0.001000	0.12947	0.130000	0.18549	-0.312000	0.09012	CAG	CELF6	-	NULL		0.632	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	HGNC	protein_coding	OTTHUMT00000420180.1	C	NM_052840		72580886	-1	no_errors	ENST00000569547	ensembl	human	known	70_37	missense	SNP	1.000	G	G	72580886	C	G	72580886	3	3	186	1	0	0	0	0	1	0	0	0	3225	912	32	1	290	1	CELF6	15	72580886	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	5764843	72580886	29950506	205	36128										
ACSBG1	23205	genome.wustl.edu	37	chr15	78485950	78485950	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tctggggagctggtggtgtaGatgccagtgacgatgccact	16	8	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:78485950G>C	ENST00000258873.4	-	5	766	c.561C>G	c.(559-561)atC>atG	p.I187M	ACSBG1_ENST00000558828.1_5'Flank|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	187					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGGTGGTGTAGATGCCAGTGA	0.592																																																	0													92	85	87					15																	78485950		2196	4293	6489	SO:0001583	missense	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.561C>G	15.37:g.78485950G>C	ENSP00000258873:p.Ile187Met		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.I187M	ENST00000258873.4	37	c.561	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782640	0.49891	.	.	ENSG00000103740	ENST00000258873	T	0.50001	0.76	4.63	2.7	0.31948	AMP-dependent synthetase/ligase (1);	0.064484	0.64402	D	0.000017	T	0.64283	0.2584	M	0.82193	2.58	0.45183	D	0.998191	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.994	T	0.61992	-0.6948	10	0.72032	D	0.01	-23.0117	4.0699	0.09877	0.2692:0.0:0.568:0.1628	.	183;187	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	M	187	ENSP00000258873:I187M	ENSP00000258873:I187M	I	-	3	3	ACSBG1	76273005	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.389000	0.34453	0.377000	0.24735	-0.150000	0.13652	ATC	ACSBG1	-	pfam_AMP-dep_Synth/Lig		0.592	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	G	NM_015162		78485950	-1	no_errors	ENST00000258873	ensembl	human	known	70_37	missense	SNP	1.000	C	C	78485950	G	C	78485950	3	2	186	1	0	0	0	0	1	0	0	0	173	932	33	1	1653	1	ACSBG1	15	78485950	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	5905064	78485950	24045442	206	36129										
TMC3	342125	genome.wustl.edu	37	chr15	81624804	81624804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	atccagatccacggtcagctCctgccccgacttggccttcc	8	18	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:81624804C>T	ENST00000359440.5	-	22	3394	c.3259G>A	c.(3259-3261)Gag>Aag	p.E1087K	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.E1088K|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACGGTCAGCTCCTGCCCCGAC	0.622																																																	0													22	25	24					15																	81624804		2064	4211	6275	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.3259G>A	15.37:g.81624804C>T	ENSP00000352413:p.Glu1087Lys			Missense_Mutation	SNP	pfam_TMC	p.E1087K	ENST00000359440.5	37	c.3259	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539973	0.27563	.	.	ENSG00000188869	ENST00000359440	T	0.64618	-0.11	5.31	4.39	0.52855	.	0.240845	0.25324	U	0.031492	T	0.48857	0.1523	L	0.32530	0.975	0.09310	N	1	P	0.35433	0.501	B	0.22386	0.039	T	0.45469	-0.9259	10	0.56958	D	0.05	-5.9591	16.0275	0.80553	0.0:0.8655:0.1345:0.0	.	1087	Q7Z5M5	TMC3_HUMAN	K	1087	ENSP00000352413:E1087K	ENSP00000352413:E1087K	E	-	1	0	TMC3	79411859	0.001000	0.12720	0.177000	0.23020	0.177000	0.22998	0.718000	0.25866	1.217000	0.43442	0.655000	0.94253	GAG	TMC3	-	NULL		0.622	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	C	NM_181841		81624804	-1	no_errors	ENST00000359440	ensembl	human	known	70_37	missense	SNP	0.010	T	T	81624804	C	T	81624804	3	4	186	1	0	0	0	0	1	0	0	0	16016	864	30	1	47	1	TMC3	15	81624804	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	3138854	81624804	20906588	207	36130										
AKAP13	11214	genome.wustl.edu	37	chr15	86201775	86201775	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cattcattttcagttcaatgCgagttcttggggatgttgtc	10	7	4	0	rs373971207		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:86201775C>T	ENST00000394518.2	+	12	4848	c.4753C>T	c.(4753-4755)Cga>Tga	p.R1585*	AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1585					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGTTCAATGCGAGTTCTTGG	0.433																																					Melanoma(94;603 1453 3280 32295 32951)												0								C	,stop/ARG	1,4403	2.1+/-5.4	0,1,2201	217	172	187		,4753	5.5	1	15		187	0,8598		0,0,4299	no	intron,stop-gained	AKAP13	NM_006738.4,NM_007200.3	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	,1585/2814	86201775	1,13001	2202	4299	6501	SO:0001587	stop_gained	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4753C>T	15.37:g.86201775C>T	ENSP00000378026:p.Arg1585*		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R1585*	ENST00000394518.2	37	c.4753	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.084288	0.94100	2.27E-4	0.0	ENSG00000170776	ENST00000394518	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	18.7456	0.91791	0.0:1.0:0.0:0.0	.	.	.	.	X	1585	.	ENSP00000378026:R1585X	R	+	1	2	AKAP13	84002779	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.707000	0.54838	2.748000	0.94277	0.655000	0.94253	CGA	AKAP13	-	NULL		0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86201775	1	no_errors	ENST00000394518	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	86201775	C	T	86201775	4	4	186	1	0	0	0	0	0	1	0	0	449	760	27	2	4795	2	AKAP13	15	86201775	Nonsense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4576971	86201775	16329617	208	36131										
IQGAP1	8826	genome.wustl.edu	37	chr15	90972868	90972868	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gataatgtgattcagtggttGaatgccatggatgagattgg	14	3	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:90972868G>C	ENST00000268182.5	+	4	484	c.360G>C	c.(358-360)ttG>ttC	p.L120F	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	120	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTCAGTGGTTGAATGCCATGG	0.383																																																	0													182	165	171					15																	90972868		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.360G>C	15.37:g.90972868G>C	ENSP00000268182:p.Leu120Phe		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L120F	ENST00000268182.5	37	c.360	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032598	0.75504	.	.	ENSG00000140575	ENST00000268182	T	0.56611	0.45	5.34	5.34	0.76211	Calponin homology domain (5);	0.000000	0.64402	D	0.000006	T	0.47563	0.1452	L	0.28740	0.885	0.80722	D	1	P	0.50819	0.939	P	0.53861	0.736	T	0.25984	-1.0116	10	0.10902	T	0.67	-13.6131	9.7753	0.40614	0.1539:0.0:0.8461:0.0	.	120	P46940	IQGA1_HUMAN	F	120	ENSP00000268182:L120F	ENSP00000268182:L120F	L	+	3	2	IQGAP1	88773872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.500000	0.45381	2.776000	0.95493	0.650000	0.86243	TTG	IQGAP1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.383	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		90972868	1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90972868	G	C	90972868	3	2	186	1	0	0	0	0	1	0	0	0	7834	1281	45	1	374	1	IQGAP1	15	90972868	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	4771093	90972868	11558524	209	36132										
MCTP2	55784	genome.wustl.edu	37	chr15	95001386	95001386	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaatctgagaaaaaggggttGattgaaagaatctatatggt	12	2	2	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:95001386G>C	ENST00000357742.4	+	19	2271	c.2271G>C	c.(2269-2271)ttG>ttC	p.L757F	MCTP2_ENST00000451018.3_Missense_Mutation_p.L702F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	757					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAAGGGGTTGATTGAAAGAA	0.299																																																	0													99	106	103					15																	95001386		2197	4298	6495	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2271G>C	15.37:g.95001386G>C	ENSP00000350377:p.Leu757Phe		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L757F	ENST00000357742.4	37	c.2271	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	4.927	0.172154	0.09391	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.71341	-0.56;-0.32	4.94	-2.41	0.06562	Phosphoribosyltransferase C-terminal (1);	0.465967	0.22073	N	0.065001	T	0.53302	0.1788	L	0.43646	1.37	0.80722	D	1	B;B	0.27791	0.004;0.189	B;B	0.35278	0.019;0.199	T	0.21008	-1.0258	10	0.17832	T	0.49	.	1.918	0.03301	0.3367:0.3744:0.1508:0.1381	.	702;757	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	F	702;757	ENSP00000395109:L702F;ENSP00000350377:L757F	ENSP00000350377:L757F	L	+	3	2	MCTP2	92802390	0.919000	0.31177	0.066000	0.19879	0.671000	0.39405	0.033000	0.13754	-0.655000	0.05387	-0.377000	0.06932	TTG	MCTP2	-	pfam_PRibTrfase_C		0.299	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	G	NM_018349		95001386	1	no_errors	ENST00000357742	ensembl	human	known	70_37	missense	SNP	0.857	C	C	95001386	G	C	95001386	3	2	186	1	0	0	0	0	1	0	0	0	9424	1281	45	1	2421	1	MCTP2	15	95001386	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	4028518	95001386	7530006	210	36133										
ABCA3	21	genome.wustl.edu	37	chr16	2333226	2333226	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agggcgcagaggatgcccctGagtctctgaagcaggttggt	16	9	1	3	rs566758140		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:2333226G>A	ENST00000301732.5	-	26	4696	c.3996C>T	c.(3994-3996)ctC>ctT	p.L1332L	ABCA3_ENST00000382381.3_Silent_p.L1274L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1332					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGATGCCCCTGAGTCTCTGAA	0.682																																																	0													43	49	47					16																	2333226		2198	4300	6498	SO:0001819	synonymous_variant	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3996C>T	16.37:g.2333226G>A			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1332	ENST00000301732.5	37	c.3996	CCDS10466.1	16																																																																																			ABCA3	-	NULL		0.682	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	G	NM_001089		2333226	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	silent	SNP	0.557	A	A	2333226	G	A	2333226	2	1	186	1	0	0	0	0	0	0	0	1	33	1277	45	1		1	ABCA3	16	2333226	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		2333226	88021527	211	36134										
PKMYT1	9088	genome.wustl.edu	37	chr16	3026898	3026898	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gggcggaggtgggaggctccGgctgagccccctgggcctct	19	13	1	1	rs375676053		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:3026898G>T	ENST00000262300.8	-	3	653	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	PKMYT1_ENST00000440027.2_Silent_p.R49R|PKMYT1_ENST00000431515.2_Silent_p.R49R|PKMYT1_ENST00000573944.1_Silent_p.R40R|PKMYT1_ENST00000574385.1_Silent_p.R40R|PKMYT1_ENST00000574730.1_Intron	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	49	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGAGGCTCCGGCTGAGCCCC	0.706																																																	0													8	11	10					16																	3026898		2065	4170	6235	SO:0001819	synonymous_variant	9088			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.145C>A	16.37:g.3026898G>T			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom	p.R49	ENST00000262300.8	37	c.145	CCDS10486.1	16																																																																																			PKMYT1	-	pirsf_Tyr/Thr_kinase_Cdc2_inhib		0.706	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	HGNC	protein_coding	OTTHUMT00000250963.2	G	NM_004203		3026898	-1	no_errors	ENST00000262300	ensembl	human	known	70_37	silent	SNP	0.947	T	T	3026898	G	T	3026898	2	4	186	1	0	0	0	0	0	0	0	1	12002	1115	39	2		2	PKMYT1	16	3026898	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	693672	3026898	87327855	212	36135										
NLRC5	84166	genome.wustl.edu	37	chr16	57104513	57104513	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agggcccttgaggggaaatgGatgctaaagaggctggagta	17	5	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:57104513G>A	ENST00000262510.6	+	38	4875	c.4650G>A	c.(4648-4650)tgG>tgA	p.W1550*	NLRC5_ENST00000308149.7_Nonsense_Mutation_p.W1521*|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.W1521*	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1550					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGGGAAATGGATGCTAAAGA	0.542																																																	0													161	123	136					16																	57104513		2198	4300	6498	SO:0001587	stop_gained	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4650G>A	16.37:g.57104513G>A	ENSP00000262510:p.Trp1550*		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.W1550*	ENST00000262510.6	37	c.4650	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629227	0.28978	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	.	.	.	4.11	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.609	0.22741	0.197:0.5912:0.2118:0.0	.	.	.	.	X	1550;1521;1521	.	ENSP00000262510:W1550X	W	+	3	0	NLRC5	55662014	0.000000	0.05858	0.006000	0.13384	0.158000	0.22134	-0.058000	0.11750	0.450000	0.26774	-0.368000	0.07277	TGG	NLRC5	-	NULL		0.542	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	G	NM_032206		57104513	1	no_errors	ENST00000262510	ensembl	human	known	70_37	nonsense	SNP	0.001	A	A	57104513	G	A	57104513	4	1	186	1	0	0	0	0	0	1	0	0	10494	1183	41	1	4792	1	NLRC5	16	57104513	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	54077615	57104513	33250240	213	36136										
PRMT7	54496	genome.wustl.edu	37	chr16	68371361	68371361	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgttttcttgtgtttttcaGagggtgacatgccatgccgt	11	8	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:68371361G>A	ENST00000339507.5	+	7	1221		c.e7-1		PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000564441.1_Splice_Site|PRMT7_ENST00000449359.3_Splice_Site|PRMT7_ENST00000441236.1_Splice_Site			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GTGTTTTTCAGAGGGTGACAT	0.488																																																	0													77	73	74					16																	68371361		2198	4300	6498	SO:0001630	splice_region_variant	54496			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.392-1G>A	16.37:g.68371361G>A			B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Splice_Site	SNP	-	e5-1	ENST00000339507.5	37	c.392-1	CCDS10866.1	16	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186258	0.78789	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000339507	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5388	0.84380	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRMT7	66928862	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.517000	0.98020	2.509000	0.84616	0.484000	0.47621	.	PRMT7	-	-		0.488	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3	G	NM_019023	Intron	68371361	1	no_errors	ENST00000339507	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	68371361	G	A	68371361	5	1	186	1	0	0	0	0	0	0	1	0	12568	956	33	1	409	1	PRMT7	16	68371361	Splice_Site	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	11266848	68371361	21983392	214	36137										
PRMT7	54496	genome.wustl.edu	37	chr16	68371400	68371400	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtgccaacatcctggtcacaGagttgtttgacacagagctg	11	10	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:68371400G>C	ENST00000339507.5	+	7	1260	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.E94Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.E94Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	144	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCTGGTCACAGAGTTGTTTGA	0.522																																																	0													90	86	88					16																	68371400		2198	4300	6498	SO:0001583	missense	54496			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.430G>C	16.37:g.68371400G>C	ENSP00000343103:p.Glu144Gln		B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7	p.E144Q	ENST00000339507.5	37	c.430	CCDS10866.1	16	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358150	0.82243	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000339507	T;T;T	0.24538	1.85;1.85;1.85	5.49	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.75167	-0.3413	10	0.87932	D	0	-28.891	12.0425	0.53460	0.084:0.0:0.916:0.0	.	94;144;144	Q9NVM4-3;Q9NVM4;Q9NVM4-4	.;ANM7_HUMAN;.	Q	94;94;144	ENSP00000414716:E94Q;ENSP00000409324:E94Q;ENSP00000343103:E144Q	ENSP00000343103:E144Q	E	+	1	0	PRMT7	66928901	1.000000	0.71417	0.997000	0.53966	0.648000	0.38561	9.517000	0.98020	1.326000	0.45319	0.484000	0.47621	GAG	PRMT7	-	pirsf_Arg_MeTrfase_PRMT7		0.522	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3	G	NM_019023		68371400	1	no_errors	ENST00000339507	ensembl	human	known	70_37	missense	SNP	0.999	C	C	68371400	G	C	68371400	3	2	186	1	0	0	0	0	1	0	0	0	12568	943	33	1	448	1	PRMT7	16	68371400	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	39	68371400	21983353	215	36138										
TMCO7	79613	genome.wustl.edu	37	chr16	68901039	68901039	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccccagcttggcttcggcgtCtatgtggacagctgctctct	11	14	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:68901039C>G	ENST00000261778.1	+	4	922	c.910C>G	c.(910-912)Cta>Gta	p.L304V		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	304						integral component of membrane (GO:0016021)											GCTTCGGCGTCTATGTGGACA	0.473																																																	0													138	136	137					16																	68901039		1927	4122	6049	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.910C>G	16.37:g.68901039C>G	ENSP00000261778:p.Leu304Val		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.L304V	ENST00000261778.1	37	c.910	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110550	0.77210	.	.	ENSG00000103047	ENST00000261778	T	0.71579	-0.58	5.83	4.88	0.63580	.	.	.	.	.	T	0.79992	0.4542	M	0.68952	2.095	0.48135	D	0.999591	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.76729	-0.2852	9	0.11794	T	0.64	-3.7063	13.9639	0.64196	0.0:0.9258:0.0:0.0742	.	304;143	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	V	304	ENSP00000261778:L304V	ENSP00000261778:L304V	L	+	1	2	TMCO7	67458540	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	4.820000	0.62671	1.470000	0.48102	0.650000	0.86243	CTA	TMCO7	-	NULL		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	C	XM_928235.2		68901039	1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	1.000	G	G	68901039	C	G	68901039	3	3	186	1	0	0	0	0	1	0	0	0	16031	912	32	1	924	1	TMCO7	16	68901039	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	529639	68901039	21453714	216	36139										
DHX38	9785	genome.wustl.edu	37	chr16	72132678	72132678	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggagccatcggctgtccactCgagatcgagacaggtgatgt	14	10	0	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:72132678C>T	ENST00000268482.3	+	5	1260	c.751C>T	c.(751-753)Cga>Tga	p.R251*	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	251					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCTGTCCACTCGAGATCGAGA	0.627																																					Melanoma(97;711 1442 7855 13832 28836)												0													41	39	40					16																	72132678		2198	4300	6498	SO:0001587	stop_gained	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.751C>T	16.37:g.72132678C>T	ENSP00000268482:p.Arg251*		B4DVG8|D3DWS7|O75212|Q96HN7	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R251*	ENST00000268482.3	37	c.751	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	42	9.197101	0.99098	.	.	ENSG00000140829	ENST00000268482	.	.	.	5.08	5.08	0.68730	.	0.146210	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0448	0.30542	0.1596:0.7588:0.0:0.0816	.	.	.	.	X	251	.	ENSP00000268482:R251X	R	+	1	2	DHX38	70690179	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	3.255000	0.51484	2.535000	0.85469	0.609000	0.83330	CGA	DHX38	-	NULL		0.627	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	C	NM_014003		72132678	1	no_errors	ENST00000268482	ensembl	human	known	70_37	nonsense	SNP	0.962	T	T	72132678	C	T	72132678	4	4	186	1	0	0	0	0	0	1	0	0	4521	876	31	1	765	1	DHX38	16	72132678	Nonsense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	3231639	72132678	18222075	217	36140										
MLKL	197259	genome.wustl.edu	37	chr16	74709568	74709568	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	catcttccagttcctgaggtGagagatatgctgtagatttg	11	7	1	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:74709568G>A	ENST00000308807.7	-	8	1596	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTCCTGAGGTGAGAGATATGC	0.388																																																	0													153	143	146					16																	74709568		2198	4300	6498	SO:0001583	missense	197259			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1133C>T	16.37:g.74709568G>A	ENSP00000308351:p.Ser378Leu			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S378L	ENST00000308807.7	37	c.1133	CCDS32487.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164016	0.78339	.	.	ENSG00000168404	ENST00000308807	D	0.94417	-3.42	4.96	4.96	0.65561	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.252278	0.35838	N	0.002958	D	0.96839	0.8968	M	0.84156	2.68	0.37937	D	0.932185	D	0.69078	0.997	D	0.63703	0.917	D	0.98194	1.0464	10	0.72032	D	0.01	-9.1708	14.4158	0.67148	0.0:0.0:1.0:0.0	.	378	Q8NB16	MLKL_HUMAN	L	378	ENSP00000308351:S378L	ENSP00000308351:S378L	S	-	2	0	MLKL	73267069	0.994000	0.37717	0.728000	0.30774	0.054000	0.15201	4.224000	0.58593	2.688000	0.91661	0.498000	0.49722	TCA	MLKL	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLKL	HGNC	protein_coding	OTTHUMT00000436403.3	G	NM_152649		74709568	-1	no_errors	ENST00000308807	ensembl	human	known	70_37	missense	SNP	0.912	A	A	74709568	G	A	74709568	3	1	186	1	0	0	0	0	1	0	0	0	9642	1294	45	1	329	1	MLKL	16	74709568	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2576890	74709568	15645185	218	36141										
C1QBP	708	genome.wustl.edu	37	chr17	5342165	5342165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggcccgctaaacctcaccgtCggtgtgcagcgagccgcagc	13	16	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:5342165C>T	ENST00000225698.4	-	1	310	c.229G>A	c.(229-231)Gac>Aac	p.D77N	C1QBP_ENST00000574444.1_5'Flank	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	77	C1q binding.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	ACCTCACCGTCGGTGTGCAGC	0.682																																																	0													2	1	1					17																	5342165		795	1297	2092	SO:0001583	missense	708			X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein"	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.229G>A	17.37:g.5342165C>T	ENSP00000225698:p.Asp77Asn		Q2HXR8|Q9NNY8	Missense_Mutation	SNP	pfam_MAM33,superfamily_MAM33	p.D77N	ENST00000225698.4	37	c.229	CCDS11071.1	17	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326813	0.41197	.	.	ENSG00000108561	ENST00000225698	.	.	.	4.24	3.25	0.37280	.	0.229525	0.42682	D	0.000673	T	0.39118	0.1066	N	0.19112	0.55	0.80722	D	1	B	0.26318	0.146	B	0.16289	0.015	T	0.35251	-0.9796	9	0.72032	D	0.01	.	10.0694	0.42324	0.0:0.7949:0.2051:0.0	.	77	Q07021	C1QBP_HUMAN	N	77	.	ENSP00000225698:D77N	D	-	1	0	C1QBP	5282889	0.960000	0.32886	0.812000	0.32479	0.038000	0.13279	2.439000	0.44846	1.085000	0.41206	0.563000	0.77884	GAC	C1QBP	-	superfamily_MAM33		0.682	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QBP	HGNC	protein_coding	OTTHUMT00000439388.1	C	NM_001212		5342165	-1	no_errors	ENST00000225698	ensembl	human	known	70_37	missense	SNP	0.963	T	T	5342165	C	T	5342165	3	4	186	1	0	0	0	0	1	0	0	0	1961	884	31	1	643	1	C1QBP	17	5342165	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09		5342165	75853045	219	36142										
HS3ST3A1	9955	genome.wustl.edu	37	chr17	13399936	13399936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtttttgaacgtcaagctctCgaaggtggggatgtcgggcc	15	8	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:13399936C>T	ENST00000284110.1	-	2	1596	c.799G>A	c.(799-801)Gag>Aag	p.E267K	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.E65K	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	267					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCAAGCTCTCGAAGGTGGGG	0.627																																																	0													5	7	6					17																	13399936		1871	3849	5720	SO:0001583	missense	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.799G>A	17.37:g.13399936C>T	ENSP00000284110:p.Glu267Lys		A8K7N2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E267K	ENST00000284110.1	37	c.799	CCDS11165.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.319936	0.95682	.	.	ENSG00000153976	ENST00000284110	D	0.84730	-1.89	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	D	0.90896	0.7139	M	0.90019	3.08	0.80722	D	1	P	0.50272	0.933	P	0.47744	0.556	D	0.92427	0.5950	10	0.66056	D	0.02	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	267	Q9Y663	HS3SA_HUMAN	K	267	ENSP00000284110:E267K	ENSP00000284110:E267K	E	-	1	0	HS3ST3A1	13340661	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.921000	0.70028	2.873000	0.98535	0.563000	0.77884	GAG	HS3ST3A1	-	pfam_Sulfotransferase_dom		0.627	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1	C	NM_006042		13399936	-1	no_errors	ENST00000284110	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13399936	C	T	13399936	3	4	186	1	0	0	0	0	1	0	0	0	7385	893	31	1	425	1	HS3ST3A1	17	13399936	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	8057771	13399936	67795274	220	36143										
SLFN11	91607	genome.wustl.edu	37	chr17	33690730	33690730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tctctgaattttctgcagctTttttctgttttcttctccaa	4	10	5	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:33690730T>C	ENST00000394566.1	-	4	369	c.97A>G	c.(97-99)Aag>Gag	p.K33E	SLFN11_ENST00000308377.4_Missense_Mutation_p.K33E	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	33					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCTGCAGCTTTTTTCTGTTT	0.463																																																	0													88	94	92					17																	33690730		2203	4300	6503	SO:0001583	missense	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.97A>G	17.37:g.33690730T>C	ENSP00000378067:p.Lys33Glu		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.K33E	ENST00000394566.1	37	c.97	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	T	5.836	0.338481	0.11069	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.24350	4.47;4.47;1.86;2.21;1.86	4.0	0.243	0.15503	.	0.428531	0.16998	N	0.191022	T	0.18341	0.0440	L	0.47078	1.49	0.09310	N	1	B	0.25563	0.129	B	0.32533	0.147	T	0.27640	-1.0068	10	0.17369	T	0.5	.	3.6043	0.08037	0.0:0.2218:0.1949:0.5833	.	33	Q7Z7L1	SLN11_HUMAN	E	33	ENSP00000312402:K33E;ENSP00000378067:K33E;ENSP00000397454:K33E;ENSP00000393615:K33E;ENSP00000395140:K33E	ENSP00000312402:K33E	K	-	1	0	SLFN11	30714843	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	0.636000	0.24644	0.155000	0.19261	-0.256000	0.11100	AAG	SLFN11	-	NULL		0.463	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	T	NM_152270		33690730	-1	no_errors	ENST00000308377	ensembl	human	known	70_37	missense	SNP	0.000	C	C	33690730	T	C	33690730	3	2	186	1	0	0	0	0	1	0	0	0	14763	1850	64	5	2624	5	SLFN11	17	33690730	Missense_Mutation	SNP	T	TCGA-Q1-A73P-01A-11D-A32I-09	20290794	33690730	47504480	221	36144										
GPR179	440435	genome.wustl.edu	37	chr17	36491017	36491017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaggtgcgtgctggatgcctCgctccagggcgcccacggtc	16	14	0	0	rs369293710		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:36491017C>A	ENST00000342292.4	-	7	1564	c.1544G>T	c.(1543-1545)cGa>cTa	p.R515L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	515					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGGATGCCTCGCTCCAGGGC	0.662																																																	0													15	19	18					17																	36491017		2131	4228	6359	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1544G>T	17.37:g.36491017C>A	ENSP00000345060:p.Arg515Leu			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.R515L	ENST00000342292.4	37	c.1544	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198501	0.58126	.	.	ENSG00000188888	ENST00000342292	D	0.88741	-2.42	4.46	-1.75	0.08031	GPCR, family 3, C-terminal (2);	0.776386	0.11028	N	0.607544	T	0.77198	0.4095	N	0.14661	0.345	0.29259	N	0.871483	P	0.43169	0.8	P	0.45232	0.474	T	0.70121	-0.4959	10	0.11485	T	0.65	0.4085	6.09	0.19989	0.0:0.2404:0.441:0.3186	.	515	Q6PRD1	GP179_HUMAN	L	515	ENSP00000345060:R515L	ENSP00000345060:R515L	R	-	2	0	GPR179	33744543	0.767000	0.28508	0.182000	0.23118	0.847000	0.48162	0.101000	0.15251	-0.445000	0.07159	0.313000	0.20887	CGA	GPR179	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.662	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36491017	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.923	A	A	36491017	C	A	36491017	3	1	186	1	0	0	0	0	1	0	0	0	6693	884	31	3	5579	3	GPR179	17	36491017	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2800287	36491017	44704193	222	36145										
GPR179	440435	genome.wustl.edu	37	chr17	36499124	36499124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccaggagggttctcctcctgCacccagttcccagacaagtc	9	16	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:36499124C>T	ENST00000342292.4	-	1	569	c.549G>A	c.(547-549)gtG>gtA	p.V183V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	183					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTCCTCCTGCACCCAGTTCC	0.647																																																	0													77	80	79					17																	36499124		1947	4127	6074	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.549G>A	17.37:g.36499124C>T				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.V183	ENST00000342292.4	37	c.549	CCDS42308.1	17																																																																																			GPR179	-	NULL		0.647	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36499124	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	silent	SNP	0.035	T	T	36499124	C	T	36499124	2	4	186	1	0	0	0	0	0	0	0	1	6693	697	25	4		4	GPR179	17	36499124	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	8107	36499124	44696086	223	36146										
HSD17B1	3292	genome.wustl.edu	37	chr17	40706695	40706695	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccgccgccgcaggtcttcctCaccgctttgcgcgccccgaa	10	20	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:40706695C>T	ENST00000585807.1	+	6	4446	c.726C>T	c.(724-726)ctC>ctT	p.L242L	HSD17B1_ENST00000225929.5_Silent_p.L243L|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	242					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	AGGTCTTCCTCACCGCTTTGC	0.731																																																	0													16	19	18					17																	40706695		2199	4288	6487	SO:0001819	synonymous_variant	3292				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.726C>T	17.37:g.40706695C>T			B3KXS1|Q2M2L8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.L242	ENST00000585807.1	37	c.726	CCDS11428.1	17																																																																																			HSD17B1	-	pirsf_17beta_DH		0.731	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	HGNC	protein_coding	OTTHUMT00000450392.1	C	NM_000413		40706695	1	no_errors	ENST00000585807	ensembl	human	known	70_37	silent	SNP	0.101	T	T	40706695	C	T	40706695	2	4	186	1	0	0	0	0	0	0	0	1	7398	813	29	1		1	HSD17B1	17	40706695	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4207571	40706695	40488515	224	36147										
MAP3K14	9020	genome.wustl.edu	37	chr17	43362246	43362246	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gcacctctccgaaggagcctCtgcccaggcggagctggtgc	14	15	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:43362246C>G	ENST00000344686.2	-	0	1328							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGGAGCCTCTGCCCAGGCG	0.587																																																	0													27	31	30					17																	43362246		1980	4157	6137			9020			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6853	protein-coding gene	gene with protein product	"serine/threonine protein-kinase"	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43362246C>G			A8K2D8|D3DX67|Q8IYN1	RNA	SNP	-	NULL	ENST00000344686.2	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158842	0.38119	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.356981	0.30890	N	0.008661	T	0.33962	0.0881	L	0.28400	0.85	0.29235	N	0.872981	P	0.43578	0.811	B	0.37387	0.248	T	0.50448	-0.8827	8	0.36615	T	0.2	.	12.0906	0.53724	0.1832:0.8168:0.0:0.0	.	408	Q99558	M3K14_HUMAN	T	407;191	.	ENSP00000342059:R407T	R	-	2	0	MAP3K14	40718029	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.538000	0.45710	2.596000	0.87737	0.455000	0.32223	AGA	MAP3K14	-	-		0.587	MAP3K14-201	KNOWN	basic	processed_transcript	MAP3K14	HGNC	processed_transcript		C	NM_003954		43362246	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	1.000	G	G	43362246	C	G	43362246	1	3	186	0	1	0	0	0	0	0	0	0	9271	913	32	1		1	MAP3K14	17	43362246	RNA	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2655551	43362246	37832964	225	36148										
MAPT	4137	genome.wustl.edu	37	chr17	44060720	44060720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	acacagagggcggccgccacGcccctgagctgctcaagcac	12	17	1	2	rs377597373		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:44060720G>A	ENST00000571987.1	+	5	550	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A184T|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.A184T|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A184T			P10636	TAU_HUMAN	microtubule-associated protein tau	184					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CGGCCGCCACGCCCCTGAGCT	0.701																																																	0													14	16	15					17																	44060720		2190	4291	6481	SO:0001583	missense	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.550G>A	17.37:g.44060720G>A	ENSP00000458742:p.Ala184Thr		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein	p.A184T	ENST00000571987.1	37	c.550	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	G	12.42	1.934135	0.34096	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10099	2.91;2.91;2.91	3.8	1.61	0.23674	.	0.804279	0.10164	N	0.707915	T	0.07773	0.0195	L	0.36672	1.1	0.09310	N	0.999999	P;P	0.48911	0.917;0.614	B;B	0.39738	0.308;0.091	T	0.32188	-0.9916	10	0.25751	T	0.34	1.2494	5.7012	0.17883	0.1183:0.2621:0.6195:0.0	.	184;184	P10636-9;P10636	.;TAU_HUMAN	T	184	ENSP00000340820:A184T;ENSP00000262410:A184T;ENSP00000410838:A184T	ENSP00000262410:A184T	A	+	1	0	MAPT	41416557	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.165000	0.16564	0.294000	0.22547	-0.368000	0.07277	GCC	MAPT	-	NULL		0.701	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	G	NM_016835		44060720	1	no_errors	ENST00000344290	ensembl	human	known	70_37	missense	SNP	0.000	A	A	44060720	G	A	44060720	3	1	186	1	0	0	0	0	1	0	0	0	9320	1087	38	2	568	2	MAPT	17	44060720	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	698474	44060720	37134490	226	36149										
LRRC37A2	474170	genome.wustl.edu	37	chr17	44626584	44626584	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cccttcacaaggggctttttCatccttaggagacctgagtc	9	12	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:44626584C>T	ENST00000576629.1	+	10	4574	c.4079C>T	c.(4078-4080)tCa>tTa	p.S1360L	ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.S1360L|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1360						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GGGGCTTTTTCATCCTTAGGA	0.413																																																	0													14	22	20					17																	44626584		1788	4028	5816	SO:0001583	missense	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4079C>T	17.37:g.44626584C>T	ENSP00000459551:p.Ser1360Leu		B7ZMC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S1360L	ENST00000576629.1	37	c.4079	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	c	13.44	2.239302	0.39598	.	.	ENSG00000238083	ENST00000333412	T	0.76709	-1.04	2.46	0.361	0.16107	.	.	.	.	.	T	0.71476	0.3344	L	0.42245	1.32	0.09310	N	1	B;P;B	0.46064	0.001;0.872;0.125	B;P;B	0.48770	0.002;0.589;0.056	T	0.61387	-0.7073	9	0.62326	D	0.03	.	2.8055	0.05426	0.2778:0.5607:0.0:0.1615	.	1360;321;1360	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	L	1360	ENSP00000333071:S1360L	ENSP00000333071:S1360L	S	+	2	0	LRRC37A2	41981900	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.014000	0.13333	0.136000	0.18733	0.175000	0.17021	TCA	LRRC37A2	-	NULL		0.413	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	C	NM_001006607		44626584	1	no_errors	ENST00000333412	ensembl	human	known	70_37	missense	SNP	0.000	T	T	44626584	C	T	44626584	3	4	186	1	0	0	0	0	1	0	0	0	9015	838	29	1	4113	1	LRRC37A2	17	44626584	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	565864	44626584	36568626	227	36150										
CACNA1G	8913	genome.wustl.edu	37	chr17	48683592	48683592	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggcccatggggtctctagccGtccttaaagatgaagaaaca	11	10	1	3	rs199892912		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:48683592G>A	ENST00000359106.5	+	23	4422				CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000416767.4_Missense_Mutation_p.V1544I|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000354983.4_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.V1544I(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCTCTAGCCGTCCttaaaga	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		19495	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	kidney(1)						G	,,,,,,,,,,,,,,ILE/VAL	2,4102		0,2,2050	9	12	11		,,,,,,,,,,,,,,4630	0.3	0	17		11	1,8363		0,1,4181	yes	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1,NM_198397.1	,,,,,,,,,,,,,,29	0,3,6231	AA,AG,GG		0.012,0.0487,0.0241	,,,,,,,,,,,,,,	,,,,,,,,,,,,,,1544/1556	48683592	3,12465	2052	4182	6234	SO:0001627	intron_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4422+208G>A	17.37:g.48683592G>A			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,prints_VDCC_T_a1su	p.V1544I	ENST00000359106.5	37	c.4630	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	6.431	0.447629	0.12223	4.87E-4	1.2E-4	ENSG00000006283	ENST00000416767	D	0.96856	-4.15	3.91	0.342	0.15996	.	.	.	.	.	D	0.91912	0.7439	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.83608	0.0132	5	.	.	.	.	3.5617	0.07885	0.0:0.4983:0.2057:0.296	.	.	.	.	I	1544	ENSP00000392390:V1544I	.	V	+	1	0	CACNA1G	46038591	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.304000	0.08199	-0.132000	0.11557	-1.130000	0.01982	GTC	CACNA1G	-	NULL		0.587	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	G	NM_018896		48683592	1	no_errors	ENST00000416767	ensembl	human	putative	70_37	missense	SNP	0.001	A	A	48683592	G	A	48683592	1	1	186	0	1	0	0	0	0	0	0	0	2549	1145	40	2		2	CACNA1G	17	48683592	Intron	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	4057008	48683592	32511618	228	36151										
MED13	9969	genome.wustl.edu	37	chr17	60038436	60038436	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aaaaggaggtgcataaagtcGaatacactctggtctctata	9	7	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:60038436G>A	ENST00000397786.2	-	23	5348	c.5272C>T	c.(5272-5274)Cga>Tga	p.R1758*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1758					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R1758*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCATAAAGTCGAATACACTCT	0.318																																																	1	Substitution - Nonsense(1)	endometrium(1)											76	65	69					17																	60038436		1809	4064	5873	SO:0001587	stop_gained	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5272C>T	17.37:g.60038436G>A	ENSP00000380888:p.Arg1758*		B2RU05|O60334	Nonsense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.R1758*	ENST00000397786.2	37	c.5272	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	45	11.720686	0.99595	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	5.16	5.16	0.70880	.	0.184796	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.274	14.39	0.66973	0.0:0.0:0.8516:0.1484	.	.	.	.	X	1758;1757	.	ENSP00000262436:R1757X	R	-	1	2	MED13	57393218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.223000	0.72257	2.409000	0.81822	0.650000	0.86243	CGA	MED13	-	pfam_Mediator_Med13		0.318	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	G	NM_005121		60038436	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	60038436	G	A	60038436	4	1	186	1	0	0	0	0	0	1	0	0	9453	1066	37	1	1284	1	MED13	17	60038436	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	11354844	60038436	21156774	229	36152										
TANC2	26115	genome.wustl.edu	37	chr17	61476269	61476269	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gctttgacagtctctggggaGagacaggtacctctcatgga	13	9	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:61476269G>C	ENST00000424789.2	+	17	3107	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E1035Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1035					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCTCTGGGGAGAGACAGGTAC	0.458																																																	0													101	110	107					17																	61476269		1984	4164	6148	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3103G>C	17.37:g.61476269G>C	ENSP00000387593:p.Glu1035Gln		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E1035Q	ENST00000424789.2	37	c.3103	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.137479	0.94517	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.64991	-0.13;-0.13	5.92	5.92	0.95590	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	N	0.04820	-0.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.72740	-0.4202	10	0.62326	D	0.03	.	19.9157	0.97061	0.0:0.0:1.0:0.0	.	1035;1035	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	Q	1035	ENSP00000374171:E1035Q;ENSP00000387593:E1035Q	ENSP00000374171:E1035Q	E	+	1	0	TANC2	58830001	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.837000	0.99465	2.813000	0.96785	0.561000	0.74099	GAG	TANC2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.458	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61476269	1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	C	C	61476269	G	C	61476269	3	2	186	1	0	0	0	0	1	0	0	0	15575	943	33	1	3169	1	TANC2	17	61476269	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	1437833	61476269	19718941	230	36153										
ARHGAP28	79822	genome.wustl.edu	37	chr18	6873519	6873519	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttgaattgactgccttttttGatgcctttggaattcaactg	8	7	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr18:6873519G>C	ENST00000383472.4	+	8	1170	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.D197H|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D197H|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.D192H|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D179H|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D197H|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D356H|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D304H			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	356					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGCCTTTTTTGATGCCTTTGG	0.398																																																	0													134	138	136					18																	6873519		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1066G>C	18.37:g.6873519G>C	ENSP00000372964:p.Asp356His		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D356H	ENST00000383472.4	37	c.1066		18	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320714	0.81469	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.11277	2.99;2.95;2.85;2.86;2.85;2.79	5.26	5.26	0.73747	.	0.202561	0.51477	D	0.000098	T	0.36331	0.0963	M	0.76727	2.345	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.947;0.996;0.998;0.998	T	0.10019	-1.0648	10	0.87932	D	0	.	19.224	0.93810	0.0:0.0:1.0:0.0	.	356;188;197;304	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	H	356;304;197;192;197;197;188;179	ENSP00000382963:D356H;ENSP00000262227:D304H;ENSP00000392660:D197H;ENSP00000437262:D192H;ENSP00000313506:D197H;ENSP00000406907:D197H	ENSP00000262227:D304H	D	+	1	0	ARHGAP28	6863519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.103000	0.77014	2.614000	0.88457	0.650000	0.86243	GAT	ARHGAP28	-	NULL		0.398	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	G	XM_371108		6873519	1	no_errors	ENST00000400091	ensembl	human	known	70_37	missense	SNP	1.000	C	C	6873519	G	C	6873519	3	2	186	1	0	0	0	0	1	0	0	0	877	1290	45	1	611	1	ARHGAP28	18	6873519	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		6873519	71203729	231	36154										
RAB31	11031	genome.wustl.edu	37	chr18	9792156	9792156	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	actctcttttttcagggcatCttttatgaccaaaactgtgc	6	10	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr18:9792156C>T	ENST00000578921.1	+	3	366	c.125C>T	c.(124-126)tCt>tTt	p.S42F		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	41					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						TTCAGGGCATCTTTTATGACC	0.423																																																	0													81	75	77					18																	9792156		1936	4150	6086	SO:0001583	missense	11031			U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"RAB, member RAS oncogene"	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.125C>T	18.37:g.9792156C>T	ENSP00000461945:p.Ser42Phe		B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S42F	ENST00000578921.1	37	c.125	CCDS45826.1	18	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829927	0.91036	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	L	0.52011	1.625	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	T	0.70193	-0.4939	8	.	.	.	-16.1587	17.5411	0.87848	0.0:1.0:0.0:0.0	.	41	Q13636	RAB31_HUMAN	F	42;33	.	.	S	+	2	0	RAB31	9782156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.330000	0.79181	2.879000	0.98667	0.650000	0.86243	TCT	RAB31	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.423	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB31	HGNC	protein_coding	OTTHUMT00000442280.3	C			9792156	1	no_errors	ENST00000306096	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9792156	C	T	9792156	3	4	186	1	0	0	0	0	1	0	0	0	12950	913	32	1	135	1	RAB31	18	9792156	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2918637	9792156	68285092	232	36155										
DSEL	92126	genome.wustl.edu	37	chr18	65180154	65180154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cgatatacacttttcagtctCattgctgaagaataagcaga	7	8	2	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr18:65180154C>T	ENST00000310045.7	-	2	3195	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	564					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTCAGTCTCATTGCTGAAG	0.428																																																	0													94	88	90					18																	65180154		2203	4300	6503	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1722G>A	18.37:g.65180154C>T	ENSP00000310565:p.Met574Ile		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.M574I	ENST00000310045.7	37	c.1722	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970832	0.53614	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19938	2.11	5.78	4.91	0.64330	.	0.046312	0.85682	U	0.000000	T	0.23133	0.0559	M	0.65975	2.015	0.51233	D	0.999916	B	0.32573	0.376	B	0.20577	0.03	T	0.03514	-1.1029	10	0.59425	D	0.04	-9.2741	14.4476	0.67361	0.0:0.9287:0.0:0.0713	.	564	Q8IZU8	DSEL_HUMAN	I	574;564	ENSP00000310565:M574I	ENSP00000310565:M574I	M	-	3	0	DSEL	63331134	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	7.633000	0.83260	1.459000	0.47892	0.563000	0.77884	ATG	DSEL	-	NULL		0.428	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	C	NM_032160		65180154	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65180154	C	T	65180154	3	4	186	1	0	0	0	0	1	0	0	0	4785	826	29	1	1950	1	DSEL	18	65180154	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	55387998	65180154	12897094	233	36156										
PTBP1	5725	genome.wustl.edu	37	chr19	807868	807868	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cttgctctgctgtctctaaaGagagtcacaccccaaagcct	7	14	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:807868G>C	ENST00000349038.4	+	10	1114		c.e10-1		PTBP1_ENST00000356948.6_Splice_Site|PTBP1_ENST00000350092.4_Splice_Site|PTBP1_ENST00000394601.4_Splice_Site|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCTCTAAAGAGAGTCACAC	0.493																																																	0													198	177	184					19																	807868		2203	4300	6503	SO:0001630	splice_region_variant	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1042-1G>C	19.37:g.807868G>C			Q9BUQ0	Splice_Site	SNP	-	e11-1	ENST00000349038.4	37	c.1120-1	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098837	0.76870	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7856	0.88536	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTBP1	758868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.415000	0.97375	2.422000	0.82143	0.650000	0.86243	.	PTBP1	-	-		0.493	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	G		Intron	807868	1	no_errors	ENST00000356948	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	807868	G	C	807868	5	2	186	1	0	0	0	0	0	0	1	0	12752	956	33	1	1161	1	PTBP1	19	807868	Splice_Site	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		807868	58321115	234	36157										
ABCA7	10347	genome.wustl.edu	37	chr19	1049293	1049293	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaagaggcaccgcccggcctGagtcctggcgtctccgttcg	14	15	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:1049293G>A	ENST00000263094.6	+	18	2640	c.2409G>A	c.(2407-2409)ctG>ctA	p.L803L	ABCA7_ENST00000435683.2_Silent_p.L665L|ABCA7_ENST00000433129.1_Silent_p.L803L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	803					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCGGCCTGAGTCCTGGCG	0.662																																																	0													54	62	59					19																	1049293		2201	4298	6499	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2409G>A	19.37:g.1049293G>A			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L803	ENST00000263094.6	37	c.2409	CCDS12055.1	19																																																																																			ABCA7	-	NULL		0.662	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	G	NM_019112		1049293	1	no_errors	ENST00000263094	ensembl	human	known	70_37	silent	SNP	0.652	A	A	1049293	G	A	1049293	2	1	186	1	0	0	0	0	0	0	0	1	37	1277	45	1		1	ABCA7	19	1049293	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	241425	1049293	58079690	235	36158										
REXO1	57455	genome.wustl.edu	37	chr19	1816128	1816128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aggtgcatgcaggcgccggcGtcctcgctggagctgtgccc	16	14	0	0	rs372526700		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:1816128G>A	ENST00000170168.4	-	16	3697	c.3603C>T	c.(3601-3603)gaC>gaT	p.D1201D	CTB-31O20.3_ENST00000586259.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1201	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCGCCGGCGTCCTCGCTGG	0.701																																																	0										1,4237		0,1,2118	52	31	38		3603	-2	1	19		38	0,8364		0,0,4182	no	coding-synonymous	REXO1	NM_020695.3		0,1,6300	AA,AG,GG		0.0,0.0236,0.0079		1201/1222	1816128	1,12601	2119	4182	6301	SO:0001819	synonymous_variant	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3603C>T	19.37:g.1816128G>A			Q9ULT2	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.D1201	ENST00000170168.4	37	c.3603	CCDS32866.1	19																																																																																			REXO1	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.701	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	G	NM_020695		1816128	-1	no_errors	ENST00000170168	ensembl	human	known	70_37	silent	SNP	0.990	A	A	1816128	G	A	1816128	2	1	186	1	0	0	0	0	0	0	0	1	13271	1136	40	2		2	REXO1	19	1816128	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	766835	1816128	57312855	236	36159										
ZNF791	163049	genome.wustl.edu	37	chr19	12738878	12738878	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	accagccctttcaaagacatGagcggactcacattggagaa	9	11	2	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:12738878G>A	ENST00000343325.4	+	4	697	c.535G>A	c.(535-537)Gag>Aag	p.E179K	ZNF791_ENST00000446165.1_3'UTR|AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.E70K|ZNF791_ENST00000458122.3_Missense_Mutation_p.E147K	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCAAAGACATGAGCGGACTCA	0.398																																																	0													58	59	58					19																	12738878		2203	4300	6503	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.535G>A	19.37:g.12738878G>A	ENSP00000342974:p.Glu179Lys		B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E179K	ENST00000343325.4	37	c.535	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351520	0.24512	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.07327	3.2;3.2;3.2	1.83	0.49	0.16861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.03050	-0.425	0.31986	N	0.605293	B	0.14805	0.011	B	0.18871	0.023	T	0.25502	-1.0130	9	0.37606	T	0.19	.	6.6059	0.22726	0.0:0.5107:0.4893:0.0	.	179	Q3KP31	ZN791_HUMAN	K	179;161;147;70	ENSP00000342974:E179K;ENSP00000441761:E147K;ENSP00000441038:E70K	ENSP00000342974:E179K	E	+	1	0	ZNF791	12599878	0.000000	0.05858	0.765000	0.31456	0.867000	0.49689	0.007000	0.13174	1.007000	0.39238	0.491000	0.48974	GAG	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	G	NM_153358		12738878	1	no_errors	ENST00000343325	ensembl	human	known	70_37	missense	SNP	0.980	A	A	12738878	G	A	12738878	3	1	186	1	0	0	0	0	1	0	0	0	18193	1291	45	1	549	1	ZNF791	19	12738878	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	10922750	12738878	46390105	237	36160										
ZNF626	199777	genome.wustl.edu	37	chr19	20829110	20829110	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aagaccaggttactgtagttCtctaacatcacattcctata	5	10	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:20829110C>G	ENST00000601440.1	-	2	251	c.105G>C	c.(103-105)gaG>gaC	p.E35D	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.E35D	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TACTGTAGTTCTCTAACATCA	0.358																																																	0													105	108	107					19																	20829110		2203	4300	6503	SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.105G>C	19.37:g.20829110C>G	ENSP00000469958:p.Glu35Asp		Q8N8T4|Q96QM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E35D	ENST00000601440.1	37	c.105	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	11.30	1.599077	0.28534	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.03920	3.76	1.02	-0.47	0.12131	Krueppel-associated box (4);	.	.	.	.	T	0.14657	0.0354	M	0.87547	2.89	0.23677	N	0.997132	P;P	0.50710	0.938;0.538	P;P	0.55965	0.788;0.533	T	0.08554	-1.0716	9	0.66056	D	0.02	.	3.682	0.08313	0.0:0.6928:0.0:0.3072	.	35;35	Q96QM1;Q68DY1	.;ZN626_HUMAN	D	35	ENSP00000291750:E35D	ENSP00000291750:E35D	E	-	3	2	ZNF626	20620950	0.992000	0.36948	0.060000	0.19600	0.056000	0.15407	0.471000	0.22100	-0.496000	0.06650	-0.497000	0.04613	GAG	ZNF626	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.358	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	C	NM_145297		20829110	-1	no_errors	ENST00000601440	ensembl	human	known	70_37	missense	SNP	0.887	G	G	20829110	C	G	20829110	3	3	186	1	0	0	0	0	1	0	0	0	18080	912	32	1	1550	1	ZNF626	19	20829110	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	8090232	20829110	38299873	238	36161										
ZNF85	7639	genome.wustl.edu	37	chr19	21131718	21131718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gcacaaaggaggttgtaatgGacttaaccaatgtctcacag	10	8	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:21131718G>A	ENST00000328178.8	+	4	511	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ZNF85_ENST00000345030.6_Missense_Mutation_p.G100E|ZNF85_ENST00000601023.1_Missense_Mutation_p.G74E|ZNF85_ENST00000597314.1_3'UTR	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	133					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GGTTGTAATGGACTTAACCAA	0.328																																																	0													67	69	68					19																	21131718		2203	4300	6503	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.398G>A	19.37:g.21131718G>A	ENSP00000329793:p.Gly133Glu		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G133E	ENST00000328178.8	37	c.398	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.342764	0.00222	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.05382	3.6;3.45	1.23	-0.992	0.10232	.	.	.	.	.	T	0.02727	0.0082	N	0.13098	0.295	0.09310	N	1	B;B;B	0.30793	0.02;0.295;0.025	B;B;B	0.24701	0.05;0.055;0.024	T	0.47328	-0.9126	9	0.12766	T	0.61	.	4.3924	0.11346	0.6818:0.0:0.3182:0.0	.	100;74;133	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	E	133;100;8	ENSP00000329793:G133E;ENSP00000342340:G100E	ENSP00000329793:G133E	G	+	2	0	ZNF85	20923558	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.068000	0.11561	-0.179000	0.10654	0.455000	0.32223	GGA	ZNF85	-	NULL		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	G	NM_003429		21131718	1	no_errors	ENST00000328178	ensembl	human	known	70_37	missense	SNP	0.000	A	A	21131718	G	A	21131718	3	1	186	1	0	0	0	0	1	0	0	0	18223	1174	41	1	412	1	ZNF85	19	21131718	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	302608	21131718	37997265	239	36162										
ZNF507	22847	genome.wustl.edu	37	chr19	32845666	32845666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgaacgaccctaccgttgcCgcctgtgtcactacacaagt	8	15	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:32845666C>T	ENST00000311921.4	+	2	2122	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	ZNF507_ENST00000544431.1_Missense_Mutation_p.R644C|ZNF507_ENST00000355898.5_Missense_Mutation_p.R644C	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	644					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CTACCGTTGCCGCCTGTGTCA	0.522																																																	0													147	115	126					19																	32845666		2203	4300	6503	SO:0001583	missense	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1930C>T	19.37:g.32845666C>T	ENSP00000312277:p.Arg644Cys		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R644C	ENST00000311921.4	37	c.1930	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571200	0.45798	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.15603	2.41;2.41;2.41	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.27673	-1.0067	10	0.59425	D	0.04	.	19.0667	0.93114	0.0:1.0:0.0:0.0	.	644;644	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	C	644	ENSP00000348162:R644C;ENSP00000312277:R644C;ENSP00000441549:R644C	ENSP00000312277:R644C	R	+	1	0	ZNF507	37537506	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	4.446000	0.60014	2.494000	0.84150	0.491000	0.48974	CGC	ZNF507	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	C	NM_014910		32845666	1	no_errors	ENST00000311921	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32845666	C	T	32845666	3	4	186	1	0	0	0	0	1	0	0	0	17983	652	23	2	1932	2	ZNF507	19	32845666	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	11713948	32845666	26283317	240	36163										
ZNF790	388536	genome.wustl.edu	37	chr19	37310175	37310175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttctcaccagtatgaattctCtgatgctgagttaggtgtga	10	7	2	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:37310175C>G	ENST00000356725.4	-	5	1191	c.1071G>C	c.(1069-1071)caG>caC	p.Q357H	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TATGAATTCTCTGATGCTGAG	0.378																																																	0													70	69	69					19																	37310175		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1071G>C	19.37:g.37310175C>G	ENSP00000349161:p.Gln357His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q357H	ENST00000356725.4	37	c.1071	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765997	0.31228	.	.	ENSG00000197863	ENST00000356725	T	0.18502	2.21	3.14	0.853	0.19001	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22666	0.0547	L	0.35854	1.095	0.29790	N	0.8333	P	0.50819	0.939	P	0.61722	0.893	T	0.13308	-1.0514	9	0.44086	T	0.13	.	4.6767	0.12715	0.0:0.5925:0.1855:0.222	.	357	Q6PG37	ZN790_HUMAN	H	357	ENSP00000349161:Q357H	ENSP00000349161:Q357H	Q	-	3	2	ZNF790	42002015	0.000000	0.05858	0.988000	0.46212	0.838000	0.47535	-0.120000	0.10660	0.153000	0.19213	-0.339000	0.08088	CAG	ZNF790	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	C	NM_206894		37310175	-1	no_errors	ENST00000356725	ensembl	human	known	70_37	missense	SNP	1.000	G	G	37310175	C	G	37310175	3	3	186	1	0	0	0	0	1	0	0	0	18192	912	32	1	843	1	ZNF790	19	37310175	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4464509	37310175	21818808	241	36164										
LGALS7B	653499	genome.wustl.edu	37	chr19	39281369	39281369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gcggggaggagcagggctccGatgccgccctgcatttcaac	15	13	1	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:39281369G>A	ENST00000314980.4	+	3	152	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	46	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)										GCAGGGCTCCGATGCCGCCCT	0.642																																																	0													35	38	37					19																	39281369		2201	4298	6499	SO:0001583	missense	653499				CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"Lectins, galactoside-binding"	34447	protein-coding gene	gene with protein product	"galectin 7B"						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.136G>A	19.37:g.39281369G>A	ENSP00000313571:p.Asp46Asn		Q6IB87	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.D46N	ENST00000314980.4	37	c.136	CCDS42565.1	19	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632873	0.67015	.	.	ENSG00000178934	ENST00000314980	T	0.20881	2.04	4.31	4.31	0.51392	.	0.336624	0.25419	N	0.030807	T	0.31327	0.0793	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10086	-1.0645	7	0.59425	D	0.04	-50.8757	13.8728	0.63629	0.0:0.0:1.0:0.0	.	.	.	.	N	46	ENSP00000313571:D46N	ENSP00000313571:D46N	D	+	1	0	LGALS7B	43973209	0.032000	0.19561	0.010000	0.14722	0.001000	0.01503	1.553000	0.36255	2.241000	0.73720	0.650000	0.86243	GAT	LGALS7B	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.642	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS7B	HGNC	protein_coding	OTTHUMT00000462638.1	G			39281369	1	no_errors	ENST00000314980	ensembl	human	known	70_37	missense	SNP	0.022	A	A	39281369	G	A	39281369	3	1	186	1	0	0	0	0	1	0	0	0	8766	1058	37	1	146	1	LGALS7B	19	39281369	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	1971194	39281369	19847614	242	36165										
SPTBN4	57731	genome.wustl.edu	37	chr19	41025495	41025495	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttagcggcctagaggccgctCtgcaggcgctggagccgcgc	16	14	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:41025495C>G	ENST00000352632.3	+	16	3177	c.3091C>G	c.(3091-3093)Ctg>Gtg	p.L1031V	SPTBN4_ENST00000344104.3_Missense_Mutation_p.L1031V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L1031V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.L1031V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L1031V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1031					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAGGCCGCTCTGCAGGCGCT	0.766																																																	0													3	4	3					19																	41025495		1753	3583	5336	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3091C>G	19.37:g.41025495C>G	ENSP00000263373:p.Leu1031Val		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1031V	ENST00000352632.3	37	c.3091	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954494	0.53293	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.81415	-1.32;-1.28;-1.49	4.37	1.07	0.20283	.	0.135912	0.31246	N	0.007983	D	0.83677	0.5306	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.978;0.998	T	0.79591	-0.1740	10	0.46703	T	0.11	.	7.2435	0.26109	0.0:0.6326:0.0:0.3674	.	1031;1031	Q9H254;Q71S06	SPTN4_HUMAN;.	V	1031	ENSP00000263373:L1031V;ENSP00000340345:L1031V;ENSP00000340741:L1031V	ENSP00000340345:L1031V	L	+	1	2	SPTBN4	45717335	0.069000	0.21087	0.834000	0.33040	0.968000	0.65278	0.529000	0.23019	0.142000	0.18901	0.462000	0.41574	CTG	SPTBN4	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.766	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	C			41025495	1	no_errors	ENST00000352632	ensembl	human	known	70_37	missense	SNP	0.674	G	G	41025495	C	G	41025495	3	3	186	1	0	0	0	0	1	0	0	0	15151	912	32	1	3149	1	SPTBN4	19	41025495	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1744126	41025495	18103488	243	36166										
ZNF45	7596	genome.wustl.edu	37	chr19	44418462	44418462	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtggcttatctgatgggcctGaaggtgtgaacccacactga	13	9	1	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:44418462G>A	ENST00000269973.5	-	10	2216	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.Q376*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	376					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGATGGGCCTGAAGGTGTGAA	0.483																																																	0													76	75	75					19																	44418462		2203	4300	6503	SO:0001587	stop_gained	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1126C>T	19.37:g.44418462G>A	ENSP00000269973:p.Gln376*		P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q376*	ENST00000269973.5	37	c.1126	CCDS12632.1	19	.	.	.	.	.	.	.	.	.	.	G	45	11.821504	0.99607	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	.	.	.	3.53	2.37	0.29283	.	0.000000	0.34314	N	0.004066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-15.7108	8.3455	0.32270	0.0:0.0:0.5735:0.4265	.	.	.	.	X	376	.	ENSP00000269973:Q376X	Q	-	1	0	ZNF45	49110302	0.000000	0.05858	0.993000	0.49108	0.975000	0.68041	0.000000	0.12993	1.977000	0.57605	0.462000	0.41574	CAG	ZNF45	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.483	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	G	NM_003425		44418462	-1	no_errors	ENST00000269973	ensembl	human	known	70_37	nonsense	SNP	0.100	A	A	44418462	G	A	44418462	4	1	186	1	0	0	0	0	0	1	0	0	17951	1299	45	1	926	1	ZNF45	19	44418462	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3392967	44418462	14710521	244	36167										
ARHGAP35	2909	genome.wustl.edu	37	chr19	47503760	47503760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gccccttcttcttctacaatCggcccatcaccgagcccccc	5	21	4	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:47503760C>T	ENST00000404338.3	+	6	4315	c.4315C>T	c.(4315-4317)Cgg>Tgg	p.R1439W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1439					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTTCTACAATCGGCCCATCAC	0.607																																																	0													128	135	133					19																	47503760		2071	4193	6264	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4315C>T	19.37:g.47503760C>T	ENSP00000385720:p.Arg1439Trp		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R1439W	ENST00000404338.3	37	c.4315	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616182	0.87359	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08008	3.14	5.09	4.05	0.47172	.	0.060019	0.64402	D	0.000002	T	0.15912	0.0383	L	0.36672	1.1	0.47276	D	0.999376	D	0.69078	0.997	P	0.57776	0.827	T	0.01242	-1.1408	10	0.66056	D	0.02	-25.3781	14.118	0.65167	0.1513:0.8487:0.0:0.0	.	1439	Q9NRY4-2	.	W	1439	ENSP00000385720:R1439W	ENSP00000324820:R1439W	R	+	1	2	ARHGAP35	52195600	0.993000	0.37304	0.960000	0.40013	0.831000	0.47069	3.625000	0.54238	1.365000	0.46057	0.655000	0.94253	CGG	ARHGAP35	-	NULL		0.607	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	C	NM_004491		47503760	1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	0.999	T	T	47503760	C	T	47503760	3	4	186	1	0	0	0	0	1	0	0	0	6815	875	31	1	4337	1	ARHGAP35	19	47503760	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	3085298	47503760	11625223	245	36168										
RASIP1	54922	genome.wustl.edu	37	chr19	49230285	49230285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctcttggtcagcctccttctCcatttccagcaccttctcct	4	18	4	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:49230285C>T	ENST00000222145.4	-	7	2206	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	668	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GCCTCCTTCTCCATTTCCAGC	0.602																																																	0													90	91	90					19																	49230285		2203	4300	6503	SO:0001583	missense	54922			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2002G>A	19.37:g.49230285C>T	ENSP00000222145:p.Glu668Lys		Q6U676	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.E668K	ENST00000222145.4	37	c.2002	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520871	0.85495	.	.	ENSG00000105538	ENST00000222145	T	0.25912	1.77	5.55	4.52	0.55395	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.53249	1.67	0.47153	D	0.999334	D	0.67145	0.996	P	0.61070	0.883	T	0.29243	-1.0018	10	0.62326	D	0.03	0.8084	12.2745	0.54726	0.0:0.9174:0.0:0.0826	.	668	Q5U651	RAIN_HUMAN	K	668	ENSP00000222145:E668K	ENSP00000222145:E668K	E	-	1	0	RASIP1	53922097	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.513000	0.73742	1.489000	0.48450	0.655000	0.94253	GAG	RASIP1	-	pfscan_Dilute		0.602	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	C	NM_017805		49230285	-1	no_errors	ENST00000222145	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49230285	C	T	49230285	3	4	186	1	0	0	0	0	1	0	0	0	13108	864	30	1	913	1	RASIP1	19	49230285	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1726525	49230285	9898698	246	36169										
ZNF677	342926	genome.wustl.edu	37	chr19	53740238	53740238	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cctgatgctaggtacagcttGaatacttaatttttgtctca	7	8	1	2	rs202144081		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:53740238G>C	ENST00000598513.1	-	5	1892	c.1742C>G	c.(1741-1743)tCa>tGa	p.S581*	ZNF677_ENST00000333952.4_Nonsense_Mutation_p.S581*	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGTACAGCTTGAATACTTAAT	0.328																																																	0													72	63	66					19																	53740238		2203	4299	6502	SO:0001587	stop_gained	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1742C>G	19.37:g.53740238G>C	ENSP00000469391:p.Ser581*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S581*	ENST00000598513.1	37	c.1742	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960884	0.74016	.	.	ENSG00000197928	ENST00000333952	.	.	.	2.44	-3.02	0.05446	.	.	.	.	.	.	.	.	.	.	.	0.18873	A	1.27947e-05	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	1.1203	0.01723	0.2498:0.1673:0.4129:0.17	.	.	.	.	X	581	.	ENSP00000334394:S581X	S	-	2	0	ZNF677	58432050	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.834000	0.01693	-0.597000	0.05813	-0.882000	0.02950	TCA	ZNF677	-	NULL		0.328	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	G	NM_182609		53740238	-1	no_errors	ENST00000333952	ensembl	human	known	70_37	nonsense	SNP	0.000	C	C	53740238	G	C	53740238	4	2	186	1	0	0	0	0	0	1	0	0	18114	1294	45	1	16	1	ZNF677	19	53740238	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	4509953	53740238	5388745	247	36170										
FIZ1	84922	genome.wustl.edu	37	chr19	56104929	56104929	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	accccacggtgctggcgcttGaggtggcggcccaggctgga	17	13	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:56104929G>C	ENST00000221665.3	-	3	467	c.378C>G	c.(376-378)ctC>ctG	p.L126L	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	126					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCTGGCGCTTGAGGTGGCGGC	0.692																																																	0													10	15	14					19																	56104929		1890	3633	5523	SO:0001819	synonymous_variant	84922			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.378C>G	19.37:g.56104929G>C			A2RU72|Q6ZMJ7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L126	ENST00000221665.3	37	c.378	CCDS12928.1	19																																																																																			FIZ1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.692	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIZ1	HGNC	protein_coding	OTTHUMT00000453350.1	G	NM_032836		56104929	-1	no_errors	ENST00000221665	ensembl	human	known	70_37	silent	SNP	0.991	C	C	56104929	G	C	56104929	2	2	186	1	0	0	0	0	0	0	0	1	5918	1277	45	1		1	FIZ1	19	56104929	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	2364691	56104929	3024054	248	36171										
ZNF543	125919	genome.wustl.edu	37	chr19	57839243	57839243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agaagtccacttgaaaatagGgataggcccccagcggggga	14	9	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:57839243G>A	ENST00000321545.4	+	4	758	c.413G>A	c.(412-414)gGg>gAg	p.G138E		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G138V(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGAAAATAGGGATAGGCCCC	0.473																																																	1	Substitution - Missense(1)	lung(1)											53	59	57					19																	57839243		2203	4300	6503	SO:0001583	missense	125919			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.413G>A	19.37:g.57839243G>A	ENSP00000322545:p.Gly138Glu		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G138E	ENST00000321545.4	37	c.413	CCDS33130.1	19	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.674700	0.00758	.	.	ENSG00000178229	ENST00000321545	T	0.27104	1.69	2.87	-0.635	0.11512	.	.	.	.	.	T	0.14442	0.0349	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.29640	-1.0005	9	0.29301	T	0.29	.	6.4961	0.22144	0.3713:0.0:0.6287:0.0	.	138	Q08ER8	ZN543_HUMAN	E	138	ENSP00000322545:G138E	ENSP00000322545:G138E	G	+	2	0	ZNF543	62531055	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.308000	0.08156	-0.164000	0.10927	-0.266000	0.10368	GGG	ZNF543	-	NULL		0.473	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF543	HGNC	protein_coding	OTTHUMT00000465780.1	G	XM_064865		57839243	1	no_errors	ENST00000321545	ensembl	human	known	70_37	missense	SNP	0.000	A	A	57839243	G	A	57839243	3	1	186	1	0	0	0	0	1	0	0	0	18006	1232	43	4	427	4	ZNF543	19	57839243	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	1734314	57839243	1289740	249	36172										
TGM3	7053	genome.wustl.edu	37	chr20	2315841	2315841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	aacatgatccggatcacagcGgtgtgcaaggtcccagatga	12	10	1	3	rs201706734		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:2315841G>A	ENST00000381458.5	+	11	1785	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	574					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGATCACAGCGGTGTGCAAGG	0.552																																																	0								G		0,4406		0,0,2203	171	135	147		1722	-2.4	0.5	20		147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TGM3	NM_003245.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		574/694	2315841	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1722G>A	20.37:g.2315841G>A			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A574	ENST00000381458.5	37	c.1722	CCDS33435.1	20																																																																																			TGM3	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.552	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	G	NM_003245		2315841	1	no_errors	ENST00000381458	ensembl	human	known	70_37	silent	SNP	0.910	A	A	2315841	G	A	2315841	2	1	186	1	0	0	0	0	0	0	0	1	15861	1103	39	2		2	TGM3	20	2315841	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		2315841	60709679	250	36173										
LRRN4	164312	genome.wustl.edu	37	chr20	6022388	6022388	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tggggtgtggcgtgtgtcctCtggccgggctgaggcgagct	20	9	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:6022388C>T	ENST00000378858.4	-	5	1727	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	501					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGTGTGTCCTCTGGCCGGGCT	0.637																																																	0													107	117	113					20																	6022388		2203	4300	6503	SO:0001819	synonymous_variant	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1503G>A	20.37:g.6022388C>T			A8K258|Q5JWV6|Q9H419	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q501	ENST00000378858.4	37	c.1503	CCDS13097.1	20																																																																																			LRRN4	-	NULL		0.637	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	C	NM_152611		6022388	-1	no_errors	ENST00000378858	ensembl	human	known	70_37	silent	SNP	0.000	T	T	6022388	C	T	6022388	2	4	186	1	0	0	0	0	0	0	0	1	9060	912	32	1		1	LRRN4	20	6022388	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	3706547	6022388	57003132	251	36174										
MACROD2	140733	genome.wustl.edu	37	chr20	15866419	15866420	+	In_Frame_Ins	INS	-	-	GAA													0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttttaacagacgataataatINSgaagaagaagaggatgttga							TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:15866419_15866420insGAA	ENST00000310348.4	+	10	738_739	c.738_739insGAA	c.(739-741)gaa>GAAgaa	p.247_247E>EE	MACROD2_ENST00000378058.3_In_Frame_Ins_p.12_12E>EE|MACROD2_ENST00000217246.4_In_Frame_Ins_p.247_247E>EE|MACROD2_ENST00000402914.1_In_Frame_Ins_p.12_12E>EE			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	247	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACGATAATAATGAAGAAGAAGA	0.287																																																	0																																										SO:0001652	inframe_insertion	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.745_747dupGAA	20.37:g.15866426_15866428dupGAA	ENSP00000309809:p.Glu250dup		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	In_Frame_Ins	INS	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.250in_frame_insE	ENST00000310348.4	37	c.738_739	CCDS13120.2	20																																																																																			MACROD2	-	NULL		0.287	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		-	NM_080676		15866420	1	no_errors	ENST00000310348	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	GAA	GAA	15866420	-	GAA	15866419	7	5	186	1	0	1	1	0	0	0	0	0	9169	1461	51	0	776	0	MACROD2	20	15866419	In_Frame_Ins	INS	-	TCGA-Q1-A73P-01A-11D-A32I-09	9844031	15866419	47159101	252	36175										
C20orf26	26074	genome.wustl.edu	37	chr20	20054995	20054995	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgtggccgtggatgagtattCtgttggctgttgcaaagaga	15	5	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:20054995C>T	ENST00000245957.5	+	4	420	c.344C>T	c.(343-345)tCt>tTt	p.S115F	C20orf26_ENST00000451767.2_Missense_Mutation_p.S115F|C20orf26_ENST00000377306.1_Missense_Mutation_p.S115F|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		115										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GATGAGTATTCTGTTGGCTGT	0.443																																																	0													243	207	219					20																	20054995		2203	4300	6503	SO:0001583	missense	26074																														ENST00000245957.5:c.344C>T	20.37:g.20054995C>T	ENSP00000245957:p.Ser115Phe		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.S115F	ENST00000245957.5	37	c.344	CCDS33447.1	20	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216292	0.58452	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767;ENST00000472660	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.47	5.47	0.80525	.	0.211286	0.40640	N	0.001047	T	0.57198	0.2037	L	0.53249	1.67	0.80722	D	1	D;D;D;P	0.63880	0.993;0.973;0.993;0.95	P;P;P;P	0.62089	0.837;0.864;0.898;0.735	T	0.59295	-0.7481	10	0.87932	D	0	.	14.8243	0.70097	0.0:1.0:0.0:0.0	.	115;115;69;115	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	F	69;115;115;115;115;115;115;115;11	ENSP00000345553:S69F;ENSP00000245957:S115F;ENSP00000366521:S115F;ENSP00000366518:S115F;ENSP00000417086:S115F;ENSP00000414537:S115F;ENSP00000420498:S11F	ENSP00000245957:S115F	S	+	2	0	C20orf26	20002995	0.832000	0.29368	0.931000	0.37212	0.319000	0.28217	2.133000	0.42093	2.559000	0.86315	0.655000	0.94253	TCT	C20orf26	-	NULL		0.443	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	C			20054995	1	no_errors	ENST00000245957	ensembl	human	known	70_37	missense	SNP	0.800	T	T	20054995	C	T	20054995	3	4	186	1	0	0	0	0	1	0	0	0	2111	913	32	1	354	1	C20orf26	20	20054995	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4188576	20054995	42970525	253	36176										
PTPRT	11122	genome.wustl.edu	37	chr20	40733326	40733326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttgccacagaggcacgcttcCaggatggcatcgtgcacaaa	11	12	0	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:40733326C>T	ENST00000373187.1	-	25	3422	c.3423G>A	c.(3421-3423)ctG>ctA	p.L1141L	PTPRT_ENST00000373201.1_Silent_p.L1131L|PTPRT_ENST00000356100.2_Silent_p.L1150L|PTPRT_ENST00000373193.3_Silent_p.L1144L|PTPRT_ENST00000373198.4_Silent_p.L1160L|PTPRT_ENST00000373184.1_Silent_p.L1151L|PTPRT_ENST00000373190.1_Silent_p.L1140L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1141	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCACGCTTCCAGGATGGCAT	0.527																																																	0													89	91	90					20																	40733326		2045	4204	6249	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3423G>A	20.37:g.40733326C>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L1163	ENST00000373187.1	37	c.3489	CCDS42874.1	20																																																																																			PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt		0.527	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			40733326	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	1.000	T	T	40733326	C	T	40733326	2	4	186	1	0	0	0	0	0	0	0	1	12842	581	21	4		4	PTPRT	20	40733326	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	20678331	40733326	22292194	254	36177										
SLCO4A1	28231	genome.wustl.edu	37	chr20	61290075	61290075	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ggcccagctgccggctacctGattggaggtgccctgctgaa	14	13	0	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:61290075G>C	ENST00000370507.1	+	2	939	c.843G>C	c.(841-843)ctG>ctC	p.L281L	SLCO4A1_ENST00000217159.1_Silent_p.L281L			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	281					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCGGCTACCTGATTGGAGGTG	0.662																																					Pancreas(168;741 2006 10379 40139 45334)												0													28	26	27					20																	61290075		2202	4300	6502	SO:0001819	synonymous_variant	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.843G>C	20.37:g.61290075G>C			Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L281	ENST00000370507.1	37	c.843	CCDS13501.1	20																																																																																			SLCO4A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.662	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	G	NM_016354		61290075	1	no_errors	ENST00000217159	ensembl	human	known	70_37	silent	SNP	0.999	C	C	61290075	G	C	61290075	2	2	186	1	0	0	0	0	0	0	0	1	14759	1277	45	1		1	SLCO4A1	20	61290075	Silent	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	20556749	61290075	1735445	255	36178										
PRIC285	85441	genome.wustl.edu	37	chr20	62196064	62196064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gctggccacatcagtgatgtGcacagccacctcgcacctgg	11	15	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:62196064G>A	ENST00000467148.1	-	8	4180	c.4111C>T	c.(4111-4113)Cac>Tac	p.H1371Y	HELZ2_ENST00000427522.2_Missense_Mutation_p.H802Y	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1371					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCAGTGATGTGCACAGCCACC	0.672																																																	0													19	15	16					20																	62196064		2176	4290	6466	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4111C>T	20.37:g.62196064G>A	ENSP00000417401:p.His1371Tyr		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.H1371Y	ENST00000467148.1	37	c.4111	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323385	0.60634	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.51071	0.72;0.72	4.84	4.84	0.62591	Ribonuclease II/R (2);	0.100833	0.64402	D	0.000002	T	0.80544	0.4643	H	0.97440	4.005	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88351	0.2981	10	0.87932	D	0	-39.4367	17.9349	0.89009	0.0:0.0:1.0:0.0	.	1371;802	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	Y	802;1371	ENSP00000393257:H802Y;ENSP00000417401:H1371Y	ENSP00000393257:H802Y	H	-	1	0	RP4-697K14.7	61666508	1.000000	0.71417	0.990000	0.47175	0.024000	0.10985	7.518000	0.81795	2.260000	0.74910	0.491000	0.48974	CAC	HELZ2	-	pfam_RNase_II/R,smart_RNase_II/R		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62196064	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	1.000	A	A	62196064	G	A	62196064	3	1	186	1	0	0	0	0	1	0	0	0	12512	1319	46	4	3886	4	PRIC285	20	62196064	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	905989	62196064	829456	256	36179										
KRTAP13-1	140258	genome.wustl.edu	37	chr21	31768787	31768787	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgtgggtccagtggcttcaGatccctgggttatggaggct	15	9	1	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr21:31768787G>C	ENST00000355459.2	+	1	396	c.383G>C	c.(382-384)aGa>aCa	p.R128T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	128						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGGCTTCAGATCCCTGGGT	0.587																																																	0													60	60	60					21																	31768787		2203	4300	6503	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.383G>C	21.37:g.31768787G>C	ENSP00000347635:p.Arg128Thr		Q14D20|Q3LI79	Missense_Mutation	SNP	pfam_PMG	p.R128T	ENST00000355459.2	37	c.383	CCDS13590.2	21	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170074	0.78452	.	.	ENSG00000198390	ENST00000355459	T	0.03663	3.85	4.64	4.64	0.57946	.	0.000000	0.44285	D	0.000475	T	0.21387	0.0515	M	0.87682	2.9	0.28618	N	0.908303	D	0.89917	1.0	D	0.76575	0.988	T	0.01235	-1.1410	10	0.72032	D	0.01	.	15.8209	0.78644	0.0:0.0:1.0:0.0	.	128	Q8IUC0	KR131_HUMAN	T	128	ENSP00000347635:R128T	ENSP00000347635:R128T	R	+	2	0	KRTAP13-1	30690658	0.000000	0.05858	0.649000	0.29536	0.228000	0.25075	0.152000	0.16302	2.850000	0.98022	0.650000	0.86243	AGA	KRTAP13-1	-	pfam_PMG		0.587	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-1	HGNC	protein_coding	OTTHUMT00000128252.3	G			31768787	1	no_errors	ENST00000355459	ensembl	human	known	70_37	missense	SNP	0.961	C	C	31768787	G	C	31768787	3	2	186	1	0	0	0	0	1	0	0	0	8542	942	33	1	385	1	KRTAP13-1	21	31768787	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		31768787	16361108	257	36180										
MICAL3	57553	genome.wustl.edu	37	chr22	18301126	18301126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ccagtgtcttcatgttggagGagctcccgtgcaggcccagg	14	12	2	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr22:18301126G>A	ENST00000441493.2	-	26	4653	c.4301C>T	c.(4300-4302)tCc>tTc	p.S1434F	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1434	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CATGTTGGAGGAGCTCCCGTG	0.711																																																	0													17	21	20					22																	18301126		2006	4139	6145	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4301C>T	22.37:g.18301126G>A	ENSP00000416015:p.Ser1434Phe		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.S1434F	ENST00000441493.2	37	c.4301	CCDS46659.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.54|17.54	3.415522|3.415522	0.62511|0.62511	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.68479	.|-0.33	4.42|4.42	4.42|4.42	0.53409|0.53409	.|.	.|.	.|.	.|.	.|.	T|T	0.71634|0.71634	0.3363|0.3363	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|P	.|0.46512	.|0.879	.|P	.|0.49276	.|0.605	T|T	0.76884|0.76884	-0.2794|-0.2794	5|9	.|0.72032	.|D	.|0.01	.|.	17.0491|17.0491	0.86513|0.86513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1434	.|Q7RTP6	.|MICA3_HUMAN	S|F	416|1434	.|ENSP00000416015:S1434F	.|ENSP00000416015:S1434F	P|S	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681126|16681126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.971000|3.971000	0.56831|0.56831	2.013000|2.013000	0.59113|0.59113	0.455000|0.455000	0.32223|0.32223	CCT|TCC	MICAL3	-	NULL		0.711	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	G			18301126	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18301126	G	A	18301126	3	1	186	1	0	0	0	0	1	0	0	0	9594	1174	41	1	1735	1	MICAL3	22	18301126	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		18301126	33003440	258	36181										
GGT1	2678	genome.wustl.edu	37	chr22	25024698	25024698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gagacccggcaccatcacacCcagatcgcgtccaccttcat	7	18	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr22:25024698C>T	ENST00000400382.1	+	16	2357	c.1602C>T	c.(1600-1602)acC>acT	p.T534T	GGT1_ENST00000404920.1_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000401885.1_Silent_p.T190T|GGT1_ENST00000406383.2_Silent_p.T534T|GGT1_ENST00000400380.1_Silent_p.T534T|GGT1_ENST00000400383.1_Silent_p.T534T|GGT1_ENST00000248923.4_Silent_p.T534T|GGT1_ENST00000404532.1_Silent_p.T190T|GGT1_ENST00000404223.1_Silent_p.T217T|GGT1_ENST00000403838.1_Silent_p.T190T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	534					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACCATCACACCCAGATCGCGT	0.667																																																	0													2	2	2					22																	25024698		865	1747	2612	SO:0001819	synonymous_variant	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1602C>T	22.37:g.25024698C>T			Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase	p.T534	ENST00000400382.1	37	c.1602	CCDS42992.1	22																																																																																			GGT1	-	pfam_GGT_peptidase,tigrfam_GGT_peptidase		0.667	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	HGNC	protein_coding	OTTHUMT00000250797.1	C	NM_013430		25024698	1	no_errors	ENST00000248923	ensembl	human	known	70_37	silent	SNP	0.000	T	T	25024698	C	T	25024698	2	4	186	1	0	0	0	0	0	0	0	1	6380	610	22	4		4	GGT1	22	25024698	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6723572	25024698	26279868	259	36182										
CACNA1I	8911	genome.wustl.edu	37	chr22	40060829	40060829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tggctttcttgtcttcgtgtCcatcatcgacatcgtggtgt	10	10	3	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr22:40060829C>T	ENST00000402142.3	+	21	3752	c.3752C>T	c.(3751-3753)tCc>tTc	p.S1251F	CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1251F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1216F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1216F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1216F|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1257F	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1251					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCTTCGTGTCCATCATCGAC	0.657																																																	0													60	67	65					22																	40060829		2116	4229	6345	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3752C>T	22.37:g.40060829C>T	ENSP00000385019:p.Ser1251Phe		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.S1257F	ENST00000402142.3	37	c.3770	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943700	0.92593	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	4.3	4.3	0.51218	Ion transport (1);	0.115231	0.64402	D	0.000010	D	0.99369	0.9778	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	D	0.98543	1.0633	10	0.87932	D	0	.	16.7671	0.85527	0.0:1.0:0.0:0.0	.	1216;1251;1216;1251	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	F	1251;1216;1251;1216;1257;1216	ENSP00000385019:S1251F;ENSP00000384093:S1216F;ENSP00000383887:S1251F;ENSP00000385680:S1216F;ENSP00000337829:S1257F;ENSP00000383028:S1216F	ENSP00000337829:S1257F	S	+	2	0	CACNA1I	38390775	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	7.731000	0.84895	1.950000	0.56595	0.462000	0.41574	TCC	CACNA1I	-	pfam_Ion_trans_dom		0.657	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	C	NM_001003406		40060829	1	no_errors	ENST00000336649	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40060829	C	T	40060829	3	4	186	1	0	0	0	0	1	0	0	0	2551	855	30	1	3834	1	CACNA1I	22	40060829	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	15036131	40060829	11243737	260	36183										
EFCAB6	64800	genome.wustl.edu	37	chr22	44083357	44083357	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttttttttacatacctatttCtttttgtcaggggaccttta	5	7	2	0	rs202185564		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr22:44083357C>G	ENST00000262726.7	-	11	1389	c.1136G>C	c.(1135-1137)aGa>aCa	p.R379T	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																																	0													41	41	41					22																	44083357		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>C	22.37:g.44083357C>G	ENSP00000262726:p.Arg379Thr		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R379T	ENST00000262726.7	37	c.1136	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173613	0.21704	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.14640	2.5;2.49	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12646	0.0307	M	0.63428	1.95	0.09310	N	1	D;P	0.53312	0.959;0.938	B;B	0.43701	0.399;0.428	T	0.21177	-1.0253	10	0.22109	T	0.4	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	T	227;379	ENSP00000379533:R227T;ENSP00000262726:R379T	ENSP00000262726:R379T	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA	EFCAB6	-	NULL		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	C	NM_022785		44083357	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	0.010	G	G	44083357	C	G	44083357	3	3	186	1	0	0	0	0	1	0	0	0	4949	913	32	1	3457	1	EFCAB6	22	44083357	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4022528	44083357	7221209	261	36184										
TXLNG	55787	genome.wustl.edu	37	chrX	16836838	16836838	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtaacaagcattcattggaaGaggatgaaggcagtgacttt	12	5	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:16836838G>A	ENST00000380122.5	+	2	305	c.244G>A	c.(244-246)Gag>Aag	p.E82K	TXLNG_ENST00000398155.4_Intron	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	82					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TTCATTGGAAGAGGATGAAGG	0.438																																																	0													152	138	142					X																	16836838		2203	4300	6503	SO:0001583	missense	55787			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.244G>A	X.37:g.16836838G>A	ENSP00000369465:p.Glu82Lys		Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	pfam_Taxilin_fam	p.E82K	ENST00000380122.5	37	c.244	CCDS14178.1	X	.	.	.	.	.	.	.	.	.	.	g	17.81	3.480354	0.63849	.	.	ENSG00000086712	ENST00000380122	T	0.36520	1.25	4.82	4.82	0.62117	.	0.454268	0.21597	N	0.072007	T	0.33818	0.0876	L	0.43152	1.355	0.80722	D	1	B	0.23937	0.094	B	0.23852	0.049	T	0.08597	-1.0714	10	0.27785	T	0.31	-8.2055	17.1634	0.86809	0.0:0.0:1.0:0.0	.	82	Q9NUQ3	TXLNG_HUMAN	K	82	ENSP00000369465:E82K	ENSP00000369465:E82K	E	+	1	0	TXLNG	16746759	1.000000	0.71417	0.973000	0.42090	0.924000	0.55760	6.608000	0.74168	1.973000	0.57446	0.417000	0.27973	GAG	TXLNG	-	NULL		0.438	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNG	HGNC	protein_coding	OTTHUMT00000055912.1	G	NM_018360		16836838	1	no_errors	ENST00000380122	ensembl	human	known	70_37	missense	SNP	0.996	A	A	16836838	G	A	16836838	3	1	186	1	0	0	0	0	1	0	0	0	16820	943	33	1	250	1	TXLNG	23	16836838	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09		16836838	138433722	262	36185										
TAB3	257397	genome.wustl.edu	37	chrX	30872913	30872913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gaggtggtgaatggtaagcaGactgagggatctgctgctgt	17	5	1	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:30872913G>A	ENST00000378933.1	-	3	1046	c.869C>T	c.(868-870)tCt>tTt	p.S290F	TAB3_ENST00000378932.2_Missense_Mutation_p.S290F|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.S290F|TAB3_ENST00000288422.2_Missense_Mutation_p.S290F|TAB3_ENST00000378928.1_5'Flank	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	290	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATGGTAAGCAGACTGAGGGAT	0.502																																					Pancreas(164;1598 1985 29022 43301 49529)												0													135	98	111					X																	30872913		2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.869C>T	X.37:g.30872913G>A	ENSP00000368215:p.Ser290Phe		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.S290F	ENST00000378933.1	37	c.869	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828729	0.50845	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.79	4.92	4.92	0.64577	.	0.279981	0.41605	D	0.000860	T	0.64494	0.2603	N	0.19112	0.55	0.44531	D	0.997486	B;B	0.28880	0.226;0.145	B;B	0.34138	0.176;0.085	T	0.61302	-0.7090	10	0.25751	T	0.34	-0.8745	17.5647	0.87916	0.0:0.0:1.0:0.0	.	290;290	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	F	290	ENSP00000368215:S290F;ENSP00000368212:S290F;ENSP00000288422:S290F;ENSP00000368214:S290F	ENSP00000288422:S290F	S	-	2	0	TAB3	30782834	1.000000	0.71417	0.967000	0.41034	0.964000	0.63967	6.696000	0.74598	2.164000	0.68074	0.538000	0.68166	TCT	TAB3	-	NULL		0.502	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	G	NM_152787		30872913	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	0.973	A	A	30872913	G	A	30872913	3	1	186	1	0	0	0	0	1	0	0	0	15527	942	33	1	1293	1	TAB3	23	30872913	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	14036075	30872913	124397647	263	36186										
FAM47C	442444	genome.wustl.edu	37	chrX	37027934	37027934	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gcctccagagaaggacgtatCtcatctccgcccagagcctc	9	16	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:37027934C>T	ENST00000358047.3	+	1	1503	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	484										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAGGACGTATCTCATCTCCGC	0.627																																																	0													71	67	69					X																	37027934		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1451C>T	X.37:g.37027934C>T	ENSP00000367913:p.Ser484Phe		Q6ZU46	Missense_Mutation	SNP	NULL	p.S484F	ENST00000358047.3	37	c.1451	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	9.459	1.092609	0.20471	.	.	ENSG00000198173	ENST00000358047	T	0.20200	2.09	0.675	-0.896	0.10557	.	.	.	.	.	T	0.20088	0.0483	M	0.64997	1.995	0.09310	N	1	P	0.36110	0.537	B	0.40134	0.32	T	0.26052	-1.0114	9	0.56958	D	0.05	.	1.5834	0.02639	0.3373:0.3861:0.0:0.2766	.	484	Q5HY64	FA47C_HUMAN	F	484	ENSP00000367913:S484F	ENSP00000367913:S484F	S	+	2	0	FAM47C	36937855	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.798000	0.27014	-0.383000	0.07858	-0.788000	0.03338	TCT	FAM47C	-	NULL		0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	C	NM_001013736		37027934	1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.000	T	T	37027934	C	T	37027934	3	4	186	1	0	0	0	0	1	0	0	0	5589	913	32	1	1453	1	FAM47C	23	37027934	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	6155021	37027934	118242626	264	36187										
DDX3X	1654	genome.wustl.edu	37	chrX	41205783	41205783	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agcaagaggactggacatttCaaatgtgaaacatgttatca	9	6	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:41205783C>T	ENST00000399959.2	+	14	2378	c.1523C>T	c.(1522-1524)tCa>tTa	p.S508L	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.S492L	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	508	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTGGACATTTCAAATGTGAAA	0.348										HNSCC(61;0.18)																																							0													141	135	137					X																	41205783		2196	4299	6495	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1523C>T	X.37:g.41205783C>T	ENSP00000382840:p.Ser508Leu		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S508L	ENST00000399959.2	37	c.1523	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900032	0.92035	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.05025	3.51;3.51	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.258227	0.39985	N	0.001205	T	0.14743	0.0356	L	0.28740	0.885	0.80722	D	1	D;D;D	0.65815	0.988;0.995;0.995	P;P;P	0.60609	0.773;0.877;0.837	T	0.01702	-1.1292	10	0.87932	D	0	-8.6292	17.9413	0.89027	0.0:1.0:0.0:0.0	.	492;520;508	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	L	508;492	ENSP00000382840:S508L;ENSP00000392494:S492L	ENSP00000382840:S508L	S	+	2	0	DDX3X	41090727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.047000	0.57383	2.170000	0.68504	0.600000	0.82982	TCA	DDX3X	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.348	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	C	NM_024005		41205783	1	no_errors	ENST00000399959	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41205783	C	T	41205783	3	4	186	1	0	0	0	0	1	0	0	0	4363	838	29	1	1577	1	DDX3X	23	41205783	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	4177849	41205783	114064777	265	36188										
NDUFB11	54539	genome.wustl.edu	37	chrX	47002088	47002088	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cgccaaagaagaagacaagtCgcatgttccagacgtccaaa	9	11	0	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:47002088C>G	ENST00000377811.3	-	2	1087	c.263G>C	c.(262-264)cGa>cCa	p.R88P	RBM10_ENST00000345781.6_5'Flank|RBM10_ENST00000377604.3_5'Flank|NDUFB11_ENST00000276062.8_Missense_Mutation_p.R88P|RBM10_ENST00000329236.7_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	88					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GAAGACAAGTCGCATGTTCCA	0.537																																					Ovarian(77;454 1296 7908 21551 37072)												0													185	147	160					X																	47002088		2203	4300	6503	SO:0001583	missense	54539			AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"Mitochondrial respiratory chain complex / Complex I"	20372	protein-coding gene	gene with protein product	"complex I NP17.3 subunit"	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.263G>C	X.37:g.47002088C>G	ENSP00000367042:p.Arg88Pro		Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_ESSS_su	p.R88P	ENST00000377811.3	37	c.263	CCDS48100.1	X	.	.	.	.	.	.	.	.	.	.	c	12.70	2.017076	0.35606	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.12	4.12	0.48240	.	0.153137	0.41001	D	0.000963	T	0.72153	0.3425	M	0.76574	2.34	0.34403	D	0.695515	D;D	0.76494	0.998;0.999	D;D	0.66716	0.915;0.946	T	0.81976	-0.0686	9	0.87932	D	0	-3.631	11.4943	0.50400	0.0:1.0:0.0:0.0	.	88;88	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	P	88;92;88	.	ENSP00000276062:R88P	R	-	2	0	NDUFB11	46887032	0.997000	0.39634	0.874000	0.34290	0.083000	0.17756	3.988000	0.56951	1.991000	0.58162	0.538000	0.68166	CGA	NDUFB11	-	pfam_NADH_UbQ_OxRdtase_ESSS_su		0.537	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB11	HGNC	protein_coding	OTTHUMT00000056382.1	C	NM_019056		47002088	-1	no_errors	ENST00000276062	ensembl	human	known	70_37	missense	SNP	0.941	G	G	47002088	C	G	47002088	3	3	186	1	0	0	0	0	1	0	0	0	10304	884	31	1	236	1	NDUFB11	23	47002088	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	5796305	47002088	108268472	266	36189										
ZNF182	7569	genome.wustl.edu	37	chrX	47836511	47836511	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttggacttctgagtgaaggcTtttccacattcattacattc	7	9	2	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:47836511T>A	ENST00000396965.1	-	7	1325	c.975A>T	c.(973-975)aaA>aaT	p.K325N	ZNF182_ENST00000376943.3_Missense_Mutation_p.K306N|ZNF182_ENST00000305127.6_Missense_Mutation_p.K325N	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GAGTGAAGGCTTTTCCACATT	0.403																																																	0													94	88	90					X																	47836511		2203	4300	6503	SO:0001583	missense	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.975A>T	X.37:g.47836511T>A	ENSP00000380165:p.Lys325Asn		A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K325N	ENST00000396965.1	37	c.975	CCDS35236.1	X	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937443	0.52972	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.27890	1.64;1.64;1.64	4.72	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49184	0.1542	M	0.76002	2.32	0.32862	D	0.50806	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.57808	-0.7747	9	0.66056	D	0.02	.	5.0638	0.14572	0.0:0.3415:0.0:0.6585	.	305;306;325	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	N	306;325;325	ENSP00000366142:K306N;ENSP00000380165:K325N;ENSP00000306351:K325N	ENSP00000306351:K325N	K	-	3	2	ZNF182	47721455	0.266000	0.24112	1.000000	0.80357	0.995000	0.86356	0.600000	0.24104	0.748000	0.32831	0.441000	0.28932	AAA	ZNF182	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	HGNC	protein_coding	OTTHUMT00000277055.1	T	NM_006962		47836511	-1	no_errors	ENST00000305127	ensembl	human	known	70_37	missense	SNP	0.998	A	A	47836511	T	A	47836511	3	1	186	1	0	0	0	0	1	0	0	0	17780	1606	56	5	948	5	ZNF182	23	47836511	Missense_Mutation	SNP	T	TCGA-Q1-A73P-01A-11D-A32I-09	834423	47836511	107434049	267	36190										
FOXR2	139628	genome.wustl.edu	37	chrX	55651041	55651041	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gagagaatccaagagtgcatGagtcagccagagttgttgac	13	7	1	5			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:55651041G>A	ENST00000339140.3	+	1	1209	c.897G>A	c.(895-897)atG>atA	p.M299I		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	299					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAGAGTGCATGAGTCAGCCAG	0.502																																																	0													130	101	111					X																	55651041		2203	4300	6503	SO:0001583	missense	139628			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.897G>A	X.37:g.55651041G>A	ENSP00000427329:p.Met299Ile			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.M299I	ENST00000339140.3	37	c.897	CCDS35308.1	X	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043500	0.55003	.	.	ENSG00000189299	ENST00000339140	D	0.95171	-3.63	3.54	2.65	0.31530	.	0.121711	0.50627	D	0.000118	D	0.95781	0.8627	M	0.62723	1.935	0.43879	D	0.996498	D	0.76494	0.999	D	0.79784	0.993	D	0.94968	0.8114	10	0.72032	D	0.01	.	10.0024	0.41938	0.0:0.2043:0.7957:0.0	.	299	Q6PJQ5	FOXR2_HUMAN	I	299	ENSP00000427329:M299I	ENSP00000427329:M299I	M	+	3	0	FOXR2	55667766	1.000000	0.71417	0.095000	0.20976	0.638000	0.38207	2.817000	0.48034	0.843000	0.35070	0.600000	0.82982	ATG	FOXR2	-	NULL		0.502	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR2	HGNC	protein_coding	OTTHUMT00000056877.2	G	NM_198451		55651041	1	no_errors	ENST00000339140	ensembl	human	known	70_37	missense	SNP	0.998	A	A	55651041	G	A	55651041	3	1	186	1	0	0	0	0	1	0	0	0	6050	1290	45	1	899	1	FOXR2	23	55651041	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	7814530	55651041	99619519	268	36191										
FAM155B	27112	genome.wustl.edu	37	chrX	68749583	68749583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	caccaacagtaccatcactaCcacccccatcatgatccccc	2	21	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:68749583C>T	ENST00000252338.4	+	3	1245	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	402						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						accatcactaccacccccatc	0.602																																																	0													245	159	188					X																	68749583		2203	4300	6503	SO:0001819	synonymous_variant	27112			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.1203C>T	X.37:g.68749583C>T			B1ALV6|B9EGK1|D3DVU1	Silent	SNP	NULL	p.Y401	ENST00000252338.4	37	c.1203	CCDS35317.1	X																																																																																			FAM155B	-	NULL		0.602	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	HGNC	protein_coding	OTTHUMT00000057037.1	C	NM_015686		68749583	1	no_errors	ENST00000252338	ensembl	human	known	70_37	silent	SNP	1.000	T	T	68749583	C	T	68749583	2	4	186	1	0	0	0	0	0	0	0	1	5481	518	18	4		4	FAM155B	23	68749583	Silent	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	13098542	68749583	86520977	269	36192										
ZNF711	7552	genome.wustl.edu	37	chrX	84520160	84520160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cacagagagtgagtacaccaGtggacattcagtagctggag	13	8	1	2			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:84520160G>A	ENST00000373165.3	+	6	1121	c.815G>A	c.(814-816)aGt>aAt	p.S272N	ZNF711_ENST00000360700.4_Missense_Mutation_p.S272N|ZNF711_ENST00000395402.1_Missense_Mutation_p.S250N|ZNF711_ENST00000542798.1_Missense_Mutation_p.S68N|ZNF711_ENST00000276123.3_Missense_Mutation_p.S272N	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	272					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GAGTACACCAGTGGACATTCA	0.388																																																	0													83	77	79					X																	84520160		2203	4300	6503	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.815G>A	X.37:g.84520160G>A	ENSP00000362260:p.Ser272Asn		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S250N	ENST00000373165.3	37	c.749	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	2.395	-0.338873	0.05243	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.12	1.48	0.22813	Transcriptional activator, Zfx / Zfy domain (1);	0.168579	0.27486	N	0.019147	T	0.10895	0.0266	N	0.00793	-1.18	0.25064	N	0.99104	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37798	-0.9690	10	0.02654	T	1	-2.5003	8.4289	0.32746	0.8454:0.0:0.1546:0.0	.	272;272	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	N	250;272;272;272;68	ENSP00000378798:S250N;ENSP00000362260:S272N;ENSP00000276123:S272N;ENSP00000353922:S272N;ENSP00000442071:S68N	ENSP00000276123:S272N	S	+	2	0	ZNF711	84406816	1.000000	0.71417	0.989000	0.46669	0.842000	0.47809	2.365000	0.44196	0.267000	0.21916	0.506000	0.49869	AGT	ZNF711	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.388	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	G	NM_021998		84520160	1	no_errors	ENST00000395402	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84520160	G	A	84520160	3	1	186	1	0	0	0	0	1	0	0	0	18146	1029	36	4	829	4	ZNF711	23	84520160	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	15770577	84520160	70750400	270	36193										
GPRASP1	9737	genome.wustl.edu	37	chrX	101911587	101911587	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cctggttctgggatggaaaaGaagtcagtgaagaagcagga	15	5	2	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:101911587G>C	ENST00000361600.5	+	5	3547	c.2746G>C	c.(2746-2748)Gaa>Caa	p.E916Q	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E916Q|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E916Q|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E916Q	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	916	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.E916*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGATGGAAAAGAAGTCAGTGA	0.463																																																	1	Substitution - Nonsense(1)	large_intestine(1)											99	97	98					X																	101911587		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2746G>C	X.37:g.101911587G>C	ENSP00000355146:p.Glu916Gln		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.E916Q	ENST00000361600.5	37	c.2746	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262579	0.23051	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	2.82	0.993	0.19825	.	.	.	.	.	T	0.10937	0.0267	L	0.50333	1.59	0.09310	N	0.999999	P	0.46987	0.888	B	0.43889	0.435	T	0.23084	-1.0198	9	0.30078	T	0.28	-1.1879	6.4688	0.21997	0.2627:0.0:0.7373:0.0	.	916	Q5JY77	GASP1_HUMAN	Q	916	ENSP00000393691:E916Q;ENSP00000409420:E916Q;ENSP00000355146:E916Q;ENSP00000445683:E916Q	ENSP00000355146:E916Q	E	+	1	0	GPRASP1	101798243	0.008000	0.16893	0.195000	0.23364	0.211000	0.24417	0.972000	0.29409	0.134000	0.18681	0.292000	0.19580	GAA	GPRASP1	-	NULL		0.463	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	G	NM_014710		101911587	1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.442	C	C	101911587	G	C	101911587	3	2	186	1	0	0	0	0	1	0	0	0	6742	943	33	1	2748	1	GPRASP1	23	101911587	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	17391427	101911587	53358973	271	36194										
DCX	1641	genome.wustl.edu	37	chrX	110653588	110653588	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	cctcgcatgttcctggatgtCttatctctttcgtcaaagtg	8	11	3	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:110653588C>G	ENST00000338081.3	-	2	453	c.282G>C	c.(280-282)aaG>aaC	p.K94N	DCX_ENST00000371993.2_Missense_Mutation_p.K13N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.K13N|DCX_ENST00000356220.3_Missense_Mutation_p.K13N|DCX_ENST00000356915.2_Missense_Mutation_p.K13N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	94					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCCTGGATGTCTTATCTCTTT	0.522																																																	0													119	109	112					X																	110653588		2203	4300	6503	SO:0001583	missense	1641			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.282G>C	X.37:g.110653588C>G	ENSP00000337697:p.Lys94Asn		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.K94N	ENST00000338081.3	37	c.282	CCDS14556.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.99|17.99	3.523718|3.523718	0.64747|0.64747	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911|ENST00000358070	T;T;T;T;T;T|.	0.54866|.	1.41;1.43;1.27;1.41;1.43;0.55|.	5.37|5.37	3.59|3.59	0.41128|0.41128	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52725|0.52725	0.1752|0.1752	L|L	0.38175|0.38175	1.15|1.15	0.51233|0.51233	D|D	0.999916|0.999916	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.99;0.99|.	T|T	0.41610|0.41610	-0.9499|-0.9499	10|5	0.66056|.	D|.	0.02|.	.|.	10.6289|10.6289	0.45523|0.45523	0.0:0.8404:0.0:0.1596|0.0:0.8404:0.0:0.1596	.|.	82;94|.	B4DM53;O43602|.	.;DCX_HUMAN|.	N|T	13;13;94;13;13;13|86	ENSP00000349385:K13N;ENSP00000361061:K13N;ENSP00000337697:K94N;ENSP00000348553:K13N;ENSP00000419861:K13N;ENSP00000418811:K13N|.	ENSP00000337697:K94N|.	K|R	-|-	3|2	2|0	DCX|DCX	110540244|110540244	0.567000|0.567000	0.26626|0.26626	0.610000|0.610000	0.28997|0.28997	0.987000|0.987000	0.75469|0.75469	1.162000|1.162000	0.31786|0.31786	0.619000|0.619000	0.30197|0.30197	0.513000|0.513000	0.50165|0.50165	AAG|AGA	DCX	-	pirsf_Doublecortin_chordata		0.522	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	C	NM_178153		110653588	-1	no_errors	ENST00000338081	ensembl	human	known	70_37	missense	SNP	0.995	G	G	110653588	C	G	110653588	3	3	186	1	0	0	0	0	1	0	0	0	4323	912	32	1	1082	1	DCX	23	110653588	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	8742001	110653588	44616972	272	36195										
C1GALT1C1	29071	genome.wustl.edu	37	chrX	119760656	119760656	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gcgtatttgtaagcttttctCatcattaaccacatgtcatt	5	9	3	0			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:119760656C>T	ENST00000304661.5	-	2	604	c.366G>A	c.(364-366)atG>atA	p.M122I	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.M122I	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	122					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AAGCTTTTCTCATCATTAACC	0.373																																																	0													74	74	74					X																	119760656		2203	4300	6503	SO:0001583	missense	29071			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.366G>A	X.37:g.119760656C>T	ENSP00000304364:p.Met122Ile		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.M122I	ENST00000304661.5	37	c.366	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242755	0.22796	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.40756	1.02;1.02	5.14	5.14	0.70334	.	0.089446	0.85682	D	0.000000	T	0.36690	0.0976	L	0.47190	1.495	0.47949	D	0.99955	B	0.25719	0.132	B	0.16289	0.015	T	0.12630	-1.0540	9	.	.	.	-12.6226	16.3759	0.83392	0.0:1.0:0.0:0.0	.	122	Q96EU7	C1GLC_HUMAN	I	122	ENSP00000304364:M122I;ENSP00000360363:M122I	.	M	-	3	0	C1GALT1C1	119644684	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.575000	0.53870	2.259000	0.74868	0.544000	0.68410	ATG	C1GALT1C1	-	NULL		0.373	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	C	NM_152692		119760656	-1	no_errors	ENST00000304661	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119760656	C	T	119760656	3	4	186	1	0	0	0	0	1	0	0	0	1958	826	29	1	594	1	C1GALT1C1	23	119760656	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	9107068	119760656	35509904	273	36196										
GRIA3	2892	genome.wustl.edu	37	chrX	122387169	122387169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	tgcagtctgctcccagttctCgagaggggtgtatgccatct	12	11	3	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:122387169C>T	ENST00000371251.1	+	3	336	c.284C>T	c.(283-285)tCg>tTg	p.S95L	GRIA3_ENST00000371256.5_Missense_Mutation_p.S95L|GRIA3_ENST00000541091.1_Missense_Mutation_p.S79L|GRIA3_ENST00000264357.5_Missense_Mutation_p.S95L|GRIA3_ENST00000542149.1_Missense_Mutation_p.S95L|GRIA3_ENST00000479118.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	95					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TCCCAGTTCTCGAGAGGGGTG	0.453																																																	0													167	132	144					X																	122387169		2203	4300	6503	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.284C>T	X.37:g.122387169C>T	ENSP00000360297:p.Ser95Leu		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S95L	ENST00000371251.1	37	c.284	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	31	5.091815	0.94149	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.63	5.63	0.86233	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.79108	0.992;0.984;0.972	T	0.56282	-0.8005	10	0.87932	D	0	.	17.7593	0.88460	0.0:1.0:0.0:0.0	.	79;95;95	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	L	95;95;95;95;79	ENSP00000264357:S95L;ENSP00000446146:S95L;ENSP00000360302:S95L;ENSP00000360297:S95L;ENSP00000446440:S79L	ENSP00000264357:S95L	S	+	2	0	GRIA3	122214850	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	7.776000	0.85560	2.499000	0.84300	0.513000	0.50165	TCG	GRIA3	-	pfam_ANF_lig-bd_rcpt		0.453	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122387169	1	no_errors	ENST00000264357	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122387169	C	T	122387169	3	4	186	1	0	0	0	0	1	0	0	0	6789	893	31	1	294	1	GRIA3	23	122387169	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	2626513	122387169	32883391	274	36197										
ARHGAP36	158763	genome.wustl.edu	37	chrX	130222682	130222682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gagcgggtaaccctcccattCcggagcaagaccgcccattg	11	15	0	1	rs267606352		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:130222682C>T	ENST00000276211.5	+	12	1912	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P511S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P387S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	523					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCCTCCCATTCCGGAGCAAGA	0.542																																																	0													71	62	65					X																	130222682		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1567C>T	X.37:g.130222682C>T	ENSP00000276211:p.Pro523Ser		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P523S	ENST00000276211.5	37	c.1567	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	2.041	-0.420118	0.04734	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.12039	2.72;2.74;2.74;2.72	4.31	2.45	0.29901	.	1.439550	0.04769	N	0.427693	T	0.09686	0.0238	N	0.08118	0	0.09310	N	1	B;B;B	0.23891	0.039;0.039;0.093	B;B;B	0.26864	0.043;0.043;0.074	T	0.39078	-0.9631	10	0.54805	T	0.06	.	9.5713	0.39429	0.0:0.5722:0.4278:0.0	.	492;511;523	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	S	523;511;492;387	ENSP00000276211:P523S;ENSP00000359960:P511S;ENSP00000408515:P492S;ENSP00000359959:P387S	ENSP00000276211:P523S	P	+	1	0	ARHGAP36	130050363	0.736000	0.28164	0.286000	0.24833	0.032000	0.12392	0.999000	0.29757	0.522000	0.28464	0.600000	0.82982	CCG	ARHGAP36	-	NULL		0.542	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130222682	1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	0.248	T	T	130222682	C	T	130222682	3	4	186	1	0	0	0	0	1	0	0	0	883	855	30	1	1609	1	ARHGAP36	23	130222682	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	7835513	130222682	25047878	275	36198										
IGSF1	3547	genome.wustl.edu	37	chrX	130412691	130412691	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	agaggaaagttggtctctgcCcacagctcaggcttaggggt	14	9	2	1			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:130412691C>T	ENST00000361420.3	-	12	1864	c.1785G>A	c.(1783-1785)tgG>tgA	p.W595*	IGSF1_ENST00000370904.1_Nonsense_Mutation_p.W586*|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W586*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W600*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	595	Ig-like C2-type 6.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGTCTCTGCCCACAGCTCAG	0.537																																																	0													65	65	65					X																	130412691		2203	4297	6500	SO:0001587	stop_gained	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1785G>A	X.37:g.130412691C>T	ENSP00000355010:p.Trp595*		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.W600*	ENST00000361420.3	37	c.1800	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	c	37	6.156829	0.97334	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	5.09	4.16	0.48862	.	0.763456	0.11688	N	0.539176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9108	0.41403	0.0:0.7979:0.2021:0.0	.	.	.	.	X	586;595;586;600	.	ENSP00000355010:W595X	W	-	3	0	IGSF1	130240372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.166000	0.42406	2.262000	0.75019	0.597000	0.82753	TGG	IGSF1	-	NULL		0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	C			130412691	-1	no_errors	ENST00000370903	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	130412691	C	T	130412691	4	4	186	1	0	0	0	0	0	1	0	0	7616	624	22	4	2261	4	IGSF1	23	130412691	Nonsense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	190009	130412691	24857869	276	36199										
CD40LG	959	genome.wustl.edu	37	chrX	135732428	135732428	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ttgttattccaaaatagataGaagatgaaaggaatcttcat	7	4	2	4			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:135732428G>C	ENST00000370629.2	+	2	216	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.E54Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	54					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					AAAATAGATAGAAGATGAAAG	0.358									Immune Deficiency with Hyper-IgM																																								0													114	118	117					X																	135732428		2203	4300	6503	SO:0001583	missense	959	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.160G>C	X.37:g.135732428G>C	ENSP00000359663:p.Glu54Gln			Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5	p.E54Q	ENST00000370629.2	37	c.160	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738738	0.30774	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.77098	-1.07;-1.07	5.72	3.85	0.44370	.	0.571887	0.19435	N	0.114334	T	0.54271	0.1848	N	0.19112	0.55	0.36892	D	0.889941	P;P	0.42692	0.787;0.539	B;B	0.33121	0.158;0.135	T	0.57717	-0.7763	10	0.26408	T	0.33	-14.7392	5.7423	0.18100	0.1047:0.1937:0.7016:0.0	.	54;54	Q3L8U2;P29965	.;CD40L_HUMAN	Q	54	ENSP00000359663:E54Q;ENSP00000359662:E54Q	ENSP00000359662:E54Q	E	+	1	0	CD40LG	135560094	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.743000	0.38258	2.549000	0.85964	0.600000	0.82982	GAA	CD40LG	-	pirsf_TNF_ligand_5,prints_TNF_ligand_5		0.358	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	G	NM_000074		135732428	1	no_errors	ENST00000370629	ensembl	human	known	70_37	missense	SNP	1.000	C	C	135732428	G	C	135732428	3	2	186	1	0	0	0	0	1	0	0	0	3021	943	33	1	166	1	CD40LG	23	135732428	Missense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	5319737	135732428	19538132	277	36200										
ATP11C	286410	genome.wustl.edu	37	chrX	138813883	138813883	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	ctgaaggtctggcggataatGagtcagatgcccttctacag	12	9	3	3			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:138813883G>T	ENST00000327569.3	-	29	3427	c.3329C>A	c.(3328-3330)tCa>tAa	p.S1110*	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Intron|ATP11C_ENST00000370557.1_Intron	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1110					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GGCGGATAATGAGTCAGATGC	0.383																																																	0													106	92	97					X																	138813883		2203	4299	6502	SO:0001587	stop_gained	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3329C>A	X.37:g.138813883G>T	ENSP00000332756:p.Ser1110*		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1110*	ENST00000327569.3	37	c.3329	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	G	40	8.359873	0.98777	.	.	ENSG00000101974	ENST00000327569	.	.	.	5.76	4.87	0.63330	.	1.155370	0.06369	N	0.713187	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.9298	0.70906	0.0:0.1387:0.8613:0.0	.	.	.	.	X	1110	.	ENSP00000332756:S1110X	S	-	2	0	ATP11C	138641549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.241000	0.72369	2.433000	0.82419	0.600000	0.82982	TCA	ATP11C	-	NULL		0.383	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	G	NM_173694		138813883	-1	no_errors	ENST00000327569	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	138813883	G	T	138813883	4	4	186	1	0	0	0	0	0	1	0	0	1122	1294	45	3	140	3	ATP11C	23	138813883	Nonsense_Mutation	SNP	G	TCGA-Q1-A73P-01A-11D-A32I-09	3081455	138813883	16456677	278	36201										
SPANXC	64663	genome.wustl.edu	37	chrX	140335818	140335818	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.464028776978417	129	9.19462089089419e-45	3.81635209958372	5.74075170168689	3.09324437030859	0.00920939504873824	0.0397027253212271	95	gtcgaggactcagatgttttCatttttttaggagcaggttg	12	5	2	1	rs59800971	byFrequency	TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:140335818C>T	ENST00000358993.2	-	2	164	c.126G>A	c.(124-126)atG>atA	p.M42I		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M42I(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CAGATGTTTTCATTTTTTTAG	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											12	11	11					X																	140335818		1247	2748	3995	SO:0001583	missense	64663			AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 3"	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.126G>A	X.37:g.140335818C>T	ENSP00000351884:p.Met42Ile		Q32WL9|Q5JX88	Missense_Mutation	SNP	pfam_SPANX_prot	p.M42I	ENST00000358993.2	37	c.126	CCDS14673.1	X	.	.	.	.	.	.	.	.	.	.	c	0.353	-0.943983	0.02322	.	.	ENSG00000198573	ENST00000358993	T	0.06449	3.3	.	.	.	.	.	.	.	.	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41161	-0.9524	7	0.39692	T	0.17	.	.	.	.	rs59800971	42	Q9NY87	SPNXC_HUMAN	I	42	ENSP00000351884:M42I	ENSP00000351884:M42I	M	-	3	0	SPANXC	140163484	0.014000	0.17966	0.002000	0.10522	0.003000	0.03518	0.064000	0.14437	-0.548000	0.06199	0.330000	0.21533	ATG	SPANXC	-	pfam_SPANX_prot		0.498	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXC	HGNC	protein_coding	OTTHUMT00000058590.1	C	NM_022661		140335818	-1	no_errors	ENST00000358993	ensembl	human	known	70_37	missense	SNP	0.002	T	T	140335818	C	T	140335818	3	4	186	1	0	0	0	0	1	0	0	0	15017	826	29	1	171	1	SPANXC	23	140335818	Missense_Mutation	SNP	C	TCGA-Q1-A73P-01A-11D-A32I-09	1521935	140335818	14934742	279	36202										
TAS1R1	80835	genome.wustl.edu	37	chr1	6635241	6635241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ggcagacaagaaggcccctaGgccttgccacaagggctcct	12	14	0	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:6635241G>A	ENST00000333172.6	+	3	1242	c.1049G>A	c.(1048-1050)aGg>aAg	p.R350K	TAS1R1_ENST00000328191.4_Missense_Mutation_p.R350K|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	350					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AAGGCCCCTAGGCCTTGCCAC	0.592																																																	0													43	39	40					1																	6635241		2203	4300	6503	SO:0001583	missense	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1049G>A	1.37:g.6635241G>A	ENSP00000331867:p.Arg350Lys		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.R350K	ENST00000333172.6	37	c.1049	CCDS81.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.012|0.012	-1.672399|-1.672399	0.00758|0.00758	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000411823|ENST00000333172;ENST00000328191	.|D;D	.|0.85861	.|-2.04;-2.04	5.4|5.4	0.741|0.741	0.18336|0.18336	.|Extracellular ligand-binding receptor (1);	.|1.018270	.|0.07783	.|N	.|0.953709	T|T	0.70518|0.70518	0.3233|0.3233	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	.|B;B	.|0.21753	.|0.06;0.015	.|B;B	.|0.16289	.|0.015;0.015	T|T	0.53165|0.53165	-0.8477|-0.8477	5|10	.|0.06099	.|T	.|0.92	.|.	7.3405|7.3405	0.26633|0.26633	0.2301:0.0:0.6467:0.1232|0.2301:0.0:0.6467:0.1232	.|.	.|350;350	.|Q7RTX1-3;Q7RTX1	.|.;TS1R1_HUMAN	S|K	276|350	.|ENSP00000331867:R350K;ENSP00000327705:R350K	.|ENSP00000327705:R350K	G|R	+|+	1|2	0|0	TAS1R1|TAS1R1	6557828|6557828	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.767000|0.767000	0.26575|0.26575	0.226000|0.226000	0.20979|0.20979	-0.181000|-0.181000	0.13052|0.13052	GGC|AGG	TAS1R1	-	pfam_ANF_lig-bd_rcpt		0.592	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	G			6635241	1	no_errors	ENST00000333172	ensembl	human	known	70_37	missense	SNP	0.000	A	A	6635241	G	A	6635241	3	1	187	1	0	0	0	0	1	0	0	0	15592	1000	35	4	1059	4	TAS1R1	1	6635241	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		6635241	242615380	1	36203										
SLC9A1	6548	genome.wustl.edu	37	chr1	27440672	27440672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cgtcggactgcaggaaggggGgtgtctcgcctacacccttg	15	12	1	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:27440672G>A	ENST00000263980.3	-	2	1033	c.458C>T	c.(457-459)cCc>cTc	p.P153L	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Missense_Mutation_p.P153L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	153					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CAGGAAGGGGGGTGTCTCGCC	0.612																																																	0													70	68	69					1																	27440672		2203	4300	6503	SO:0001583	missense	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.458C>T	1.37:g.27440672G>A	ENSP00000263980:p.Pro153Leu		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.P153L	ENST00000263980.3	37	c.458	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801170	0.70567	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	T;T	0.64618	0.83;-0.11	5.69	5.69	0.88448	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	L	0.28649	0.875	0.80722	D	1	B;B	0.23128	0.063;0.08	B;B	0.22152	0.034;0.038	T	0.50550	-0.8815	10	0.51188	T	0.08	.	18.7867	0.91959	0.0:0.0:1.0:0.0	.	153;153	P19634-2;P19634	.;SL9A1_HUMAN	L	153	ENSP00000263980:P153L;ENSP00000363199:P153L	ENSP00000263980:P153L	P	-	2	0	SLC9A1	27313259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.674000	0.74487	2.692000	0.91855	0.655000	0.94253	CCC	SLC9A1	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.612	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	G	NM_003047		27440672	-1	no_errors	ENST00000263980	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27440672	G	A	27440672	3	1	187	1	0	0	0	0	1	0	0	0	14739	1232	43	4	2033	4	SLC9A1	1	27440672	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	20805431	27440672	221809949	2	36204										
MAP3K6	9064	genome.wustl.edu	37	chr1	27683547	27683547	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gcacagcacggctgagcagtGagtccagaacgaacatccag	12	12	0	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:27683547G>A	ENST00000493901.1	-	25	3556	c.3317C>T	c.(3316-3318)tCa>tTa	p.S1106L	MAP3K6_ENST00000374040.3_Missense_Mutation_p.S1098L|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S1106L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1106					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGAGCAGTGAGTCCAGAAC	0.657																																																	0													52	50	50					1																	27683547		2202	4300	6502	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3317C>T	1.37:g.27683547G>A	ENSP00000419591:p.Ser1106Leu		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1106L	ENST00000493901.1	37	c.3317	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852337	0.71719	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.66995	-0.24;-0.24;-0.24	5.2	3.23	0.37069	.	.	.	.	.	T	0.64238	0.2580	L	0.53249	1.67	0.33701	D	0.614547	P;P	0.45827	0.867;0.791	P;B	0.47346	0.544;0.342	T	0.73987	-0.3809	9	0.87932	D	0	.	6.9933	0.24767	0.0:0.1542:0.4781:0.3678	.	1098;1106	O95382-3;O95382	.;M3K6_HUMAN	L	1098;1106;1106	ENSP00000363152:S1098L;ENSP00000419591:S1106L;ENSP00000350195:S1106L	ENSP00000350195:S1106L	S	-	2	0	MAP3K6	27556134	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.939000	0.48995	2.421000	0.82119	0.462000	0.41574	TCA	MAP3K6	-	NULL		0.657	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	G	NM_004672		27683547	-1	no_errors	ENST00000357582	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27683547	G	A	27683547	3	1	187	1	0	0	0	0	1	0	0	0	9277	1294	45	1	573	1	MAP3K6	1	27683547	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	242875	27683547	221567074	3	36205										
BAI2	576	genome.wustl.edu	37	chr1	32198739	32198739	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ccacgcaggagctccagagtGaggccctgaggggacagtgg	17	11	0	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:32198739G>A	ENST00000373658.3	-	26	3799	c.3458C>T	c.(3457-3459)tCa>tTa	p.S1153L	BAI2_ENST00000398538.1_Missense_Mutation_p.S1141L|BAI2_ENST00000440175.2_Missense_Mutation_p.S762L|BAI2_ENST00000398556.3_Missense_Mutation_p.S1068L|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.S1120L|BAI2_ENST00000398547.1_Missense_Mutation_p.S1086L|BAI2_ENST00000373655.2_Missense_Mutation_p.S1153L|BAI2_ENST00000527361.1_Missense_Mutation_p.S1120L|BAI2_ENST00000398542.1_Missense_Mutation_p.S1053L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1153					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTCCAGAGTGAGGCCCTGAG	0.652																																																	0													30	26	28					1																	32198739		2198	4289	6487	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3458C>T	1.37:g.32198739G>A	ENSP00000362762:p.Ser1153Leu		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.S1153L	ENST00000373658.3	37	c.3458	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.263108	0.95399	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.38560	1.13;1.17;1.17;1.17;1.13;1.13;1.13;1.13;1.17	4.84	4.84	0.62591	GPCR, family 2-like (1);	0.000000	0.32640	N	0.005828	T	0.58864	0.2152	L	0.45581	1.43	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.995;1.0;0.999;0.998;0.988;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.942;0.997;0.985;0.966;0.945;0.999;0.991	T	0.57820	-0.7745	10	0.44086	T	0.13	.	17.9411	0.89027	0.0:0.0:1.0:0.0	.	1120;1141;762;1068;1153;1153;1141	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	L	1068;1086;1153;1153;1053;1120;1120;762;1141	ENSP00000381564:S1068L;ENSP00000381555:S1086L;ENSP00000362762:S1153L;ENSP00000362759:S1153L;ENSP00000381550:S1053L;ENSP00000257070:S1120L;ENSP00000435397:S1120L;ENSP00000391071:S762L;ENSP00000381548:S1141L	ENSP00000257070:S1120L	S	-	2	0	BAI2	31971326	1.000000	0.71417	0.888000	0.34837	0.996000	0.88848	9.863000	0.99569	2.407000	0.81776	0.655000	0.94253	TCA	BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.652	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	G	NM_001703		32198739	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32198739	G	A	32198739	3	1	187	1	0	0	0	0	1	0	0	0	1300	1294	45	1	1331	1	BAI2	1	32198739	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	4515192	32198739	217051882	4	36206										
CSMD2	114784	genome.wustl.edu	37	chr1	34112290	34112290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	agcattgctcacagatgcatCgctgcggaaggcgaggaaga	14	9	1	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:34112290C>T	ENST00000373380.1	-	8	1571	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	CSMD2_ENST00000373381.4_Missense_Mutation_p.D1578N|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1538	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGATGCATCGCTGCGGAAG	0.572																																																	0													99	92	94					1																	34112290		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1351G>A	1.37:g.34112290C>T	ENSP00000362478:p.Asp451Asn		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D1578N	ENST00000373380.1	37	c.4732		1	.	.	.	.	.	.	.	.	.	.	C	36	5.905890	0.97087	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.38887	1.11;1.11	5.95	5.95	0.96441	CUB (5);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.989	D;D;P	0.81914	0.968;0.995;0.837	T	0.68322	-0.5439	10	0.45353	T	0.12	.	19.3736	0.94500	0.0:1.0:0.0:0.0	.	451;1538;1578	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	N	1578;451	ENSP00000362479:D1578N;ENSP00000362478:D451N	ENSP00000241312:D1538N	D	-	1	0	CSMD2	33884877	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	GAT	CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.572	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	C	NM_052896		34112290	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34112290	C	T	34112290	3	4	187	1	0	0	0	0	1	0	0	0	3950	884	31	1	6015	1	CSMD2	1	34112290	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	1913551	34112290	215138331	5	36207										
HIST2H3D	653604	genome.wustl.edu	37	chr1	149784945	149784945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cagccccaccaggtaggcctCgctggcctcctgcagcgcca	11	19	0	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:149784945C>T	ENST00000331491.1	-	1	291	c.292G>A	c.(292-294)Gag>Aag	p.E98K	HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	98					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGGTAGGCCTCGCTGGCCTCC	0.642																																																	0													21	24	23					1																	149784945		1559	3540	5099	SO:0001583	missense	653604			AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"Histones / Replication-dependent"	25311	protein-coding gene	gene with protein product			"histone 2, H3d"				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.292G>A	1.37:g.149784945C>T	ENSP00000333277:p.Glu98Lys		A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E98K	ENST00000331491.1	37	c.292	CCDS41388.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989458	0.74589	.	.	ENSG00000183598	ENST00000331491	T	0.77489	-1.1	4.1	3.18	0.36537	.	0.000000	0.53938	U	0.000046	T	0.77452	0.4132	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	T	0.80365	-0.1413	7	0.87932	D	0	.	10.8541	0.46789	0.0:0.9049:0.0:0.0951	.	.	.	.	K	98	ENSP00000333277:E98K	ENSP00000333277:E98K	E	-	1	0	HIST2H3D	148051569	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.337000	0.52120	1.080000	0.41073	0.436000	0.28706	GAG	HIST2H3D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.642	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H3D	HGNC	protein_coding	OTTHUMT00000033452.1	C	NM_001123375		149784945	-1	no_errors	ENST00000331491	ensembl	human	known	70_37	missense	SNP	1.000	T	T	149784945	C	T	149784945	3	4	187	1	0	0	0	0	1	0	0	0	7201	893	31	1	120	1	HIST2H3D	1	149784945	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	115672655	149784945	99465676	6	36208										
C1orf107	27042	genome.wustl.edu	37	chr1	210016849	210016849	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gtatcgtgatgcagtcatgtCtcacacgctcatctatatcc	7	12	4	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:210016849C>A	ENST00000491415.2	+	11	1892	c.1835C>A	c.(1834-1836)tCt>tAt	p.S612Y		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	612					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GCAGTCATGTCTCACACGCTC	0.408																																																	0													126	107	114					1																	210016849		2203	4300	6503	SO:0001583	missense	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1835C>A	1.37:g.210016849C>A	ENSP00000419005:p.Ser612Tyr		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd	p.S612Y	ENST00000491415.2	37	c.1835	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599820	0.87055	.	.	ENSG00000117597	ENST00000491415	T	0.49720	0.77	5.79	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.80616	2.505	0.80722	D	1	D	0.58620	0.983	P	0.61874	0.895	T	0.73075	-0.4097	10	0.66056	D	0.02	-17.9899	14.7022	0.69164	0.0:0.9308:0.0:0.0692	.	612	Q68CQ4	DIEXF_HUMAN	Y	612	ENSP00000419005:S612Y	ENSP00000419005:S612Y	S	+	2	0	DIEXF	208083472	1.000000	0.71417	0.940000	0.37924	0.998000	0.95712	7.642000	0.83385	1.454000	0.47793	0.655000	0.94253	TCT	DIEXF	-	pfam_Digest_organ_expansion_fac-prd		0.408	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	C	NM_014388		210016849	1	no_errors	ENST00000491415	ensembl	human	known	70_37	missense	SNP	1.000	A	A	210016849	C	A	210016849	3	1	187	1	0	0	0	0	1	0	0	0	1986	913	32	3	1877	3	C1orf107	1	210016849	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	60231904	210016849	39233772	7	36209										
SIPA1L2	57568	genome.wustl.edu	37	chr1	232650405	232650405	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	aaaaattcagggaacccaaaAgggaccattgctttgtggtc	10	8	1	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr1:232650405A>G	ENST00000366630.1	-	2	1039	c.681T>C	c.(679-681)ccT>ccC	p.P227P	SIPA1L2_ENST00000262861.4_Silent_p.P227P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	227					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAACCCAAAAGGGACCATTG	0.468																																																	0													96	95	95					1																	232650405		1869	4104	5973	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.681T>C	1.37:g.232650405A>G			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.P227	ENST00000366630.1	37	c.681	CCDS41474.1	1																																																																																			SIPA1L2	-	NULL		0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	A	XM_045839		232650405	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	silent	SNP	0.032	G	G	232650405	A	G	232650405	2	3	187	1	0	0	0	0	0	0	0	1	14360	59	3	5		5	SIPA1L2	1	232650405	Silent	SNP	A	TCGA-Q1-A73Q-01A-21D-A32I-09	22633556	232650405	16600216	8	36210										
RAD51AP2	729475	genome.wustl.edu	37	chr2	17696788	17696788	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	agtactaagtcaaattttctCttcatctcaaaatcttttac	2	9	5	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr2:17696788C>G	ENST00000399080.2	-	1	2918	c.2895G>C	c.(2893-2895)aaG>aaC	p.K965N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	965										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAAATTTTCTCTTCATCTCAA	0.338																																																	0													42	40	41					2																	17696788		1796	4068	5864	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2895G>C	2.37:g.17696788C>G	ENSP00000382030:p.Lys965Asn			Missense_Mutation	SNP	NULL	p.K965N	ENST00000399080.2	37	c.2895	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219145	0.39201	.	.	ENSG00000214842	ENST00000399080	T	0.40756	1.02	5.17	2.43	0.29744	.	.	.	.	.	T	0.46678	0.1405	L	0.29908	0.895	0.27358	N	0.956044	D	0.64830	0.994	D	0.63192	0.912	T	0.33471	-0.9867	9	0.87932	D	0	-3.1938	8.8019	0.34914	0.0:0.6246:0.0:0.3754	.	965	Q09MP3	R51A2_HUMAN	N	965	ENSP00000382030:K965N	ENSP00000382030:K965N	K	-	3	2	RAD51AP2	17560269	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	0.155000	0.16362	0.303000	0.22785	-0.137000	0.14449	AAG	RAD51AP2	-	NULL		0.338	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3	C	NM_001099218		17696788	-1	no_errors	ENST00000399080	ensembl	human	known	70_37	missense	SNP	0.999	G	G	17696788	C	G	17696788	3	3	187	1	0	0	0	0	1	0	0	0	13017	912	32	1	596	1	RAD51AP2	2	17696788	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09		17696788	225502585	9	36211										
GPN1	79635	genome.wustl.edu	37	chr2	27852242	27852242	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tctcttctgcgcaccttcagGgcatactcggtccagcttac	8	15	3	0	rs372682827		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr2:27852242G>T	ENST00000324364.3	-	0	0				GPN1_ENST00000458167.2_Intron|GPN1_ENST00000610189.1_Intron|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000407583.3_Splice_Site_p.G3V|GPN1_ENST00000503738.1_Intron|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000424214.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_Intron|GPN1_ENST00000264718.3_Intron|CCDC121_ENST00000394775.3_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121											breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GCACCTTCAGGGCATACTCGG	0.483																																																	0													160	132	140					2																	27852242		692	1591	2283	SO:0001631	upstream_gene_variant	11321			AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427		2.37:g.27852242G>T	Exception_encountered		B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom	p.G3V	ENST00000324364.3	37	c.8	CCDS1759.1	2	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786983	0.31593	.	.	ENSG00000198522	ENST00000407583	T	0.46063	0.88	4.14	0.405	0.16361	.	.	.	.	.	T	0.20414	0.0491	N	0.08118	0	0.19300	N	0.999974	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	9	0.72032	D	0.01	.	4.7398	0.13007	0.0:0.1051:0.3958:0.4991	.	3	B5MBZ5	.	V	3	ENSP00000384255:G3V	ENSP00000384255:G3V	G	+	2	0	GPN1	27705746	0.012000	0.17670	0.002000	0.10522	0.025000	0.11179	0.235000	0.17948	0.069000	0.16605	-0.364000	0.07487	GGG	GPN1	-	NULL		0.483	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000250215.1	G	NM_024584		27852242	1	no_errors	ENST00000407583	ensembl	human	putative	70_37	missense	SNP	0.003	T	T	27852242	G	T	27852242	1	4	187	0	1	0	0	0	0	0	0	0	6636	1246	43	4		4	GPN1	2	27852242	5'Flank	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	10155454	27852242	215347131	10	36212										
DNAH6	1768	genome.wustl.edu	37	chr2	84880959	84880959	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ctttgcctggctaacagtgaGaggattaaactcacacctca	8	11	2	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr2:84880959G>T	ENST00000237449.6	+	33	5603	c.5595G>T	c.(5593-5595)gaG>gaT	p.E1865D	DNAH6_ENST00000389394.3_Missense_Mutation_p.E1865D|DNAH6_ENST00000398278.2_Missense_Mutation_p.E1865D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1865	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTAACAGTGAGAGGATTAAAC	0.378																																																	0													124	103	109					2																	84880959		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.5595G>T	2.37:g.84880959G>T	ENSP00000237449:p.Glu1865Asp		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1865D	ENST00000237449.6	37	c.5595	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520539	0.64747	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	D;D;D	0.91740	-2.9;-2.9;-2.9	5.38	2.54	0.30619	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	D	0.95194	0.8442	M	0.84433	2.695	0.32498	N	0.539191	D	0.63880	0.993	D	0.67382	0.951	D	0.94087	0.7349	9	0.87932	D	0	.	8.1178	0.30953	0.3136:0.0:0.6864:0.0	.	1865	Q9C0G6	DYH6_HUMAN	D	1865	ENSP00000374045:E1865D;ENSP00000381326:E1865D;ENSP00000237449:E1865D	ENSP00000237449:E1865D	E	+	3	2	DNAH6	84734470	0.721000	0.28007	1.000000	0.80357	0.998000	0.95712	-0.055000	0.11807	1.254000	0.44035	0.544000	0.68410	GAG	DNAH6	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84880959	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	T	T	84880959	G	T	84880959	3	4	187	1	0	0	0	0	1	0	0	0	4615	933	33	3	5725	3	DNAH6	2	84880959	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	57028717	84880959	158318414	11	36213										
INPP1	3628	genome.wustl.edu	37	chr2	191236083	191236083	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	aagcggctggagacattcctGagcctcctggtccaaaacct	10	13	0	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr2:191236083G>A	ENST00000322522.4	+	6	1611	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	INPP1_ENST00000541441.1_Silent_p.L385L|INPP1_ENST00000392329.2_Silent_p.L385L	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	385					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			AGACATTCCTGAGCCTCCTGG	0.532																																					Melanoma(130;184 1743 2185 19805 38428)												0													53	52	52					2																	191236083		2203	4300	6503	SO:0001819	synonymous_variant	3628				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.1155G>A	2.37:g.191236083G>A				Silent	SNP	pfam_Inositol_monophosphatase	p.L385	ENST00000322522.4	37	c.1155	CCDS2305.1	2																																																																																			INPP1	-	NULL		0.532	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	G			191236083	1	no_errors	ENST00000322522	ensembl	human	known	70_37	silent	SNP	0.992	A	A	191236083	G	A	191236083	2	1	187	1	0	0	0	0	0	0	0	1	7771	1277	45	1		1	INPP1	2	191236083	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	106355124	191236083	51963290	12	36214										
NGLY1	55768	genome.wustl.edu	37	chr3	25775374	25775374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	acaccatacctgcttattaaGcccattaatagtgtctcgaa	5	11	1	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:25775374G>T	ENST00000280700.5	-	8	1409	c.1249C>A	c.(1249-1251)Ctt>Att	p.L417I	NGLY1_ENST00000428257.1_Missense_Mutation_p.L399I|NGLY1_ENST00000396649.3_Missense_Mutation_p.L417I|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.L375I|NGLY1_ENST00000422724.2_3'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	417					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGCTTATTAAGCCCATTAATA	0.358																																																	0													153	143	146					3																	25775374		2203	4300	6503	SO:0001583	missense	55768			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1249C>A	3.37:g.25775374G>T	ENSP00000280700:p.Leu417Ile		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom	p.L417I	ENST00000280700.5	37	c.1249	CCDS33719.1	3	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698672	0.48307	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.77	3.93	0.45458	.	0.113047	0.64402	N	0.000010	T	0.44603	0.1301	N	0.25890	0.77	0.80722	D	1	B;B;B;B	0.25351	0.006;0.057;0.124;0.027	B;B;B;B	0.42214	0.057;0.196;0.38;0.072	T	0.20505	-1.0273	10	0.15952	T	0.53	-10.7891	15.261	0.73621	0.0:0.0:0.6406:0.3594	.	375;399;417;417	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	I	399;417;417;396;375	ENSP00000387430:L399I;ENSP00000280700:L417I;ENSP00000379886:L417I;ENSP00000307980:L396I;ENSP00000389888:L375I	ENSP00000280700:L417I	L	-	1	0	NGLY1	25750378	0.998000	0.40836	0.990000	0.47175	0.990000	0.78478	2.604000	0.46274	0.844000	0.35094	0.655000	0.94253	CTT	NGLY1	-	pfam_Rad4/PNGase_transGLS-fold		0.358	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGLY1	HGNC	protein_coding	OTTHUMT00000340832.2	G			25775374	-1	no_errors	ENST00000280700	ensembl	human	known	70_37	missense	SNP	0.945	T	T	25775374	G	T	25775374	3	4	187	1	0	0	0	0	1	0	0	0	10422	971	34	4	735	4	NGLY1	3	25775374	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		25775374	172247056	13	36215										
CCDC80	151887	genome.wustl.edu	37	chr3	112358468	112358468	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	acggcggccccattgatgtcCgagcgggctggcggctctgt	16	13	1	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:112358468C>A	ENST00000206423.3	-	2	1238	c.285G>T	c.(283-285)tcG>tcT	p.S95S	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Silent_p.S95S	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	95					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CATTGATGTCCGAGCGGGCTG	0.602																																																	0													63	63	63					3																	112358468		2203	4300	6503	SO:0001819	synonymous_variant	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.285G>T	3.37:g.112358468C>A			D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	NULL	p.S95	ENST00000206423.3	37	c.285	CCDS2968.1	3																																																																																			CCDC80	-	NULL		0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	C	NM_199511		112358468	-1	no_errors	ENST00000206423	ensembl	human	known	70_37	silent	SNP	0.001	A	A	112358468	C	A	112358468	2	1	187	1	0	0	0	0	0	0	0	1	2859	639	23	2		2	CCDC80	3	112358468	Silent	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	86583094	112358468	85663962	14	36216										
KBTBD12	166348	genome.wustl.edu	37	chr3	127649050	127649050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gaccccagccaagatcaatgGagtgtgcgggcacccatgaa	12	12	1	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:127649050G>T	ENST00000405109.1	+	4	1883	c.1416G>T	c.(1414-1416)tgG>tgT	p.W472C	KBTBD12_ENST00000407609.3_Missense_Mutation_p.W79C|KBTBD12_ENST00000343941.4_Missense_Mutation_p.W47C|KBTBD12_ENST00000405256.1_Missense_Mutation_p.W472C|KBTBD12_ENST00000492025.1_3'UTR			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	472										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAGATCAATGGAGTGTGCGGG	0.418																																																	0													89	74	79					3																	127649050		2203	4300	6503	SO:0001583	missense	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1416G>T	3.37:g.127649050G>T	ENSP00000385957:p.Trp472Cys		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.W472C	ENST00000405109.1	37	c.1416	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187096	0.78789	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	D;D;D;T	0.96940	-4.18;-4.18;-4.18;-1.26	5.91	5.91	0.95273	Kelch-type beta propeller (1);	0.000000	0.53938	D	0.000044	D	0.98988	0.9655	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99060	1.0830	10	0.87932	D	0	.	20.2892	0.98540	0.0:0.0:1.0:0.0	.	472;47	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	C	472;79;472;47	ENSP00000385957:W472C;ENSP00000385830:W79C;ENSP00000385879:W472C;ENSP00000345478:W47C	ENSP00000345478:W47C	W	+	3	0	KBTBD12	129131740	1.000000	0.71417	0.899000	0.35326	0.797000	0.45037	9.476000	0.97823	2.801000	0.96364	0.573000	0.79308	TGG	KBTBD12	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.418	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	G	NM_207335		127649050	1	no_errors	ENST00000405109	ensembl	human	known	70_37	missense	SNP	1.000	T	T	127649050	G	T	127649050	3	4	187	1	0	0	0	0	1	0	0	0	8011	1183	41	3	1426	3	KBTBD12	3	127649050	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	15290582	127649050	70373380	15	36217										
ACPL2	92370	genome.wustl.edu	37	chr3	141011697	141011697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gccggatgcagcgtgccaccGagggcaggaaagaagagctc	16	11	0	2	rs142753948		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:141011697G>A	ENST00000286353.4	+	6	1230	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	ACPL2_ENST00000504264.1_Missense_Mutation_p.E348K|ACPL2_ENST00000393010.2_Missense_Mutation_p.E365K|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.E327K|ACPL2_ENST00000393007.1_Missense_Mutation_p.E349K|ACPL2_ENST00000508812.1_Missense_Mutation_p.E356K	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		365						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GCGTGCCACCGAGGGCAGGAA	0.547																																																	0								G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	149	113	125		1093,1093	2.6	0	3	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACPL2	NM_001037172.1,NM_152282.3	56,56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	365/481,365/481	141011697	2,13004	2203	4300	6503	SO:0001583	missense	92370																														ENST00000286353.4:c.1093G>A	3.37:g.141011697G>A	ENSP00000286353:p.Glu365Lys		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.E365K	ENST00000286353.4	37	c.1093	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339493	0.24339	2.27E-4	1.16E-4	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.48	2.56	0.30785	.	0.625902	0.17771	N	0.162583	T	0.14614	0.0353	N	0.20685	0.6	0.09310	N	1	B;B	0.16166	0.016;0.007	B;B	0.10450	0.005;0.005	T	0.31364	-0.9946	10	0.07813	T	0.8	.	5.7789	0.18295	0.0789:0.1313:0.6461:0.1437	.	348;365	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	K	365;327;365;348;356;349;173	ENSP00000286353:E365K;ENSP00000422558:E327K;ENSP00000376733:E365K;ENSP00000426877:E348K;ENSP00000422901:E356K;ENSP00000376731:E349K	ENSP00000286353:E365K	E	+	1	0	ACPL2	142494387	0.011000	0.17503	0.001000	0.08648	0.785000	0.44390	1.657000	0.37366	0.608000	0.30000	0.655000	0.94253	GAG	ACPL2	-	pfam_His_Pase_superF_clade-2		0.547	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	G			141011697	1	no_errors	ENST00000286353	ensembl	human	known	70_37	missense	SNP	0.018	A	A	141011697	G	A	141011697	3	1	187	1	0	0	0	0	1	0	0	0	166	1059	37	1	1111	1	ACPL2	3	141011697	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	13362647	141011697	57010733	16	36218										
YEATS2	55689	genome.wustl.edu	37	chr3	183469915	183469915	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gagaagactgtatctatcctCagtcctcggagtctgacatc	9	11	3	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:183469915C>G	ENST00000305135.5	+	10	1219	c.1024C>G	c.(1024-1026)Cag>Gag	p.Q342E		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	342					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATCTATCCTCAGTCCTCGGA	0.483																																																	0													203	193	196					3																	183469915		1972	4160	6132	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1024C>G	3.37:g.183469915C>G	ENSP00000306983:p.Gln342Glu		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.Q342E	ENST00000305135.5	37	c.1024	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	9.208	1.030186	0.19512	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.21734	1.99	5.35	4.44	0.53790	.	0.365346	0.25258	N	0.031977	T	0.15478	0.0373	L	0.29908	0.895	0.34395	D	0.694633	B	0.13594	0.008	B	0.06405	0.002	T	0.14337	-1.0476	10	0.15499	T	0.54	0.5066	14.0057	0.64461	0.0:0.8484:0.1516:0.0	.	342	Q9ULM3	YETS2_HUMAN	E	342	ENSP00000306983:Q342E	ENSP00000306983:Q342E	Q	+	1	0	YEATS2	184952609	1.000000	0.71417	0.949000	0.38748	0.162000	0.22319	2.972000	0.49256	1.188000	0.43014	0.655000	0.94253	CAG	YEATS2	-	NULL		0.483	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	C	NM_018023		183469915	1	no_errors	ENST00000305135	ensembl	human	known	70_37	missense	SNP	1.000	G	G	183469915	C	G	183469915	3	3	187	1	0	0	0	0	1	0	0	0	17503	827	29	1	1058	1	YEATS2	3	183469915	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	42458218	183469915	14552515	17	36219										
YEATS2	55689	genome.wustl.edu	37	chr3	183469988	183469988	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tccagccccagtgaaagcttCttcaccaataaagcagtcac	6	14	3	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr3:183469988C>G	ENST00000305135.5	+	10	1292	c.1097C>G	c.(1096-1098)tCt>tGt	p.S366C		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	366					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGAAAGCTTCTTCACCAATA	0.483																																																	0													156	147	150					3																	183469988		1945	4150	6095	SO:0001583	missense	55689			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1097C>G	3.37:g.183469988C>G	ENSP00000306983:p.Ser366Cys		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S366C	ENST00000305135.5	37	c.1097	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922184	0.52653	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.31769	1.48	5.15	4.27	0.50696	.	0.370723	0.25668	N	0.029095	T	0.29882	0.0747	L	0.29908	0.895	0.39980	D	0.974903	D	0.59767	0.986	P	0.49708	0.62	T	0.05767	-1.0865	10	0.49607	T	0.09	-5.7851	12.251	0.54597	0.0:0.9195:0.0:0.0805	.	366	Q9ULM3	YETS2_HUMAN	C	366	ENSP00000306983:S366C	ENSP00000306983:S366C	S	+	2	0	YEATS2	184952682	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.705000	0.47127	2.417000	0.82017	0.655000	0.94253	TCT	YEATS2	-	NULL		0.483	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	C	NM_018023		183469988	1	no_errors	ENST00000305135	ensembl	human	known	70_37	missense	SNP	1.000	G	G	183469988	C	G	183469988	3	3	187	1	0	0	0	0	1	0	0	0	17503	913	32	1	1131	1	YEATS2	3	183469988	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	73	183469988	14552442	18	36220										
MSX1	4487	genome.wustl.edu	37	chr4	4864435	4864435	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tttcggccctcagggcggctGagccccccagcctgcaccct	11	19	1	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:4864435G>A	ENST00000382723.4	+	2	711	c.477G>A	c.(475-477)ctG>ctA	p.L159L	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	159					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGGGCGGCTGAGCCCCCCAG	0.572																																																	0													57	74	68					4																	4864435		2178	4239	6417	SO:0001819	synonymous_variant	4487			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.477G>A	4.37:g.4864435G>A			A0SZU5|A8K3M1|Q96NY4	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L159	ENST00000382723.4	37	c.477	CCDS3378.2	4																																																																																			MSX1	-	NULL		0.572	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	G			4864435	1	no_errors	ENST00000382723	ensembl	human	known	70_37	silent	SNP	1.000	A	A	4864435	G	A	4864435	2	1	187	1	0	0	0	0	0	0	0	1	9918	1277	45	1		1	MSX1	4	4864435	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		4864435	186289841	19	36221										
ARHGAP24	83478	genome.wustl.edu	37	chr4	86844842	86844842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cagcaaatcatgaaagctacCtcctcatggcaagcacccag	7	14	2	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:86844842C>T	ENST00000395184.1	+	4	776	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.L9F|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.L104F	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	104	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TGAAAGCTACCTCCTCATGGC	0.478																																																	0													104	95	98					4																	86844842		2203	4300	6503	SO:0001583	missense	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.310C>T	4.37:g.86844842C>T	ENSP00000378611:p.Leu104Phe		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.L104F	ENST00000395184.1	37	c.310	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.508510	0.96386	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000514229	T;T;T;T;T	0.18338	2.66;2.66;2.22;2.22;2.22	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.058694	0.64402	D	0.000001	T	0.36580	0.0972	L	0.41492	1.28	0.80722	D	1	D;D;D	0.76494	0.999;0.983;0.957	D;P;P	0.69824	0.966;0.9;0.828	T	0.01393	-1.1366	10	0.66056	D	0.02	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	9;104;104	Q8N264-3;Q8N264;Q8N264-4	.;RHG24_HUMAN;.	F	104;104;9;9;19	ENSP00000378611:L104F;ENSP00000423206:L104F;ENSP00000426105:L9F;ENSP00000378610:L9F;ENSP00000425589:L19F	ENSP00000378610:L9F	L	+	1	0	ARHGAP24	87063866	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.786000	0.85741	2.854000	0.98071	0.655000	0.94253	CTC	ARHGAP24	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.478	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	C	NM_031305		86844842	1	no_errors	ENST00000395184	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86844842	C	T	86844842	3	4	187	1	0	0	0	0	1	0	0	0	873	681	24	4	320	4	ARHGAP24	4	86844842	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	81980407	86844842	104309434	20	36222										
SPARCL1	8404	genome.wustl.edu	37	chr4	88414908	88414908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tgcctggggccatcagtgccGccatcatcgccatcatcatc	9	16	4	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:88414908G>A	ENST00000282470.6	-	4	1514	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G	SPARCL1_ENST00000503414.1_Silent_p.G223G|SPARCL1_ENST00000418378.1_Silent_p.G348G	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	348					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CATCAGTGCCGCcatcatcgc	0.522																																																	0													126	105	113					4																	88414908		2203	4300	6503	SO:0001819	synonymous_variant	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1044C>T	4.37:g.88414908G>A			B4E2Z0|E7ESU2|Q14800	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.G348	ENST00000282470.6	37	c.1044	CCDS3622.1	4																																																																																			SPARCL1	-	pirsf_SPARC-like_p1		0.522	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	G			88414908	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	silent	SNP	0.003	A	A	88414908	G	A	88414908	2	1	187	1	0	0	0	0	0	0	0	1	15026	1074	38	2		2	SPARCL1	4	88414908	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	1570066	88414908	102739368	21	36223										
FAT4	79633	genome.wustl.edu	37	chr4	126411466	126411466	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ttctgagtcagggccctgaaGagatctctctgcctttgtgg	12	10	4	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:126411466G>T	ENST00000394329.3	+	17	13502	c.13489G>T	c.(13489-13491)Gag>Tag	p.E4497*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E2738*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4497					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGCCCTGAAGAGATCTCTCT	0.602																																																	0													81	80	80					4																	126411466		2203	4300	6503	SO:0001587	stop_gained	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13489G>T	4.37:g.126411466G>T	ENSP00000377862:p.Glu4497*		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E4497*	ENST00000394329.3	37	c.13489	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	53	21.289040	0.99939	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.17	5.17	0.71159	.	0.000000	0.34676	U	0.003761	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	17.6678	0.88208	0.0:0.0:1.0:0.0	.	.	.	.	X	4497;2738	.	ENSP00000335169:E2738X	E	+	1	0	FAT4	126630916	1.000000	0.71417	0.993000	0.49108	0.753000	0.42808	3.628000	0.54259	2.395000	0.81488	0.561000	0.74099	GAG	FAT4	-	NULL		0.602	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126411466	1	no_errors	ENST00000394329	ensembl	human	known	70_37	nonsense	SNP	0.996	T	T	126411466	G	T	126411466	4	4	187	1	0	0	0	0	0	1	0	0	5710	943	33	3	13555	3	FAT4	4	126411466	Nonsense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	37996558	126411466	64742810	22	36224										
MAB21L2	10586	genome.wustl.edu	37	chr4	151504436	151504436	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tacctaaaccagatgggcgtCttcaacttcgtggacgacgg	11	11	2	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr4:151504436C>T	ENST00000317605.4	+	1	1360	c.255C>T	c.(253-255)gtC>gtT	p.V85V	LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	85					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AGATGGGCGTCTTCAACTTCG	0.597																																																	0													83	75	78					4																	151504436		2203	4300	6503	SO:0001819	synonymous_variant	10586			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.255C>T	4.37:g.151504436C>T			B3KP37|Q9HBA7	Silent	SNP	pfam_Mab-21_dom,pfscan_Ricin_B_lectin	p.V85	ENST00000317605.4	37	c.255	CCDS3774.1	4																																																																																			MAB21L2	-	pfam_Mab-21_dom		0.597	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	HGNC	protein_coding	OTTHUMT00000364937.1	C	NM_006439		151504436	1	no_errors	ENST00000317605	ensembl	human	known	70_37	silent	SNP	1.000	T	T	151504436	C	T	151504436	2	4	187	1	0	0	0	0	0	0	0	1	9165	900	32	1		1	MAB21L2	4	151504436	Silent	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	25092970	151504436	39649840	23	36225										
PRDM9	56979	genome.wustl.edu	37	chr5	23522499	23522499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	aagaggtcagcgagccgcagGatgatgattacctctgtaag	13	8	2	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:23522499G>A	ENST00000296682.3	+	7	777	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	199					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGAGCCGCAGGATGATGATTA	0.453										HNSCC(3;0.000094)																																							0													128	139	135					5																	23522499		2017	4200	6217	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.595G>A	5.37:g.23522499G>A	ENSP00000296682:p.Asp199Asn		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D199N	ENST00000296682.3	37	c.595	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339218	0.60963	.	.	ENSG00000164256	ENST00000296682	T	0.54071	0.59	3.72	2.84	0.33178	SSXRD motif (1);	.	.	.	.	T	0.57051	0.2027	L	0.29908	0.895	0.31377	N	0.679481	D	0.69078	0.997	D	0.80764	0.994	T	0.59134	-0.7511	9	0.87932	D	0	-9.8512	7.8602	0.29506	0.1263:0.0:0.8737:0.0	.	199	Q9NQV7	PRDM9_HUMAN	N	199	ENSP00000296682:D199N	ENSP00000296682:D199N	D	+	1	0	PRDM9	23558256	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	2.077000	0.41557	0.859000	0.35456	-0.206000	0.12725	GAT	PRDM9	-	pfam_SSXRD_motif		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23522499	1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23522499	G	A	23522499	3	1	187	1	0	0	0	0	1	0	0	0	12490	1174	41	1	617	1	PRDM9	5	23522499	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		23522499	157392761	24	36226										
IL31RA	133396	genome.wustl.edu	37	chr5	55212739	55212739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tcccagtttcacctgagattCcgcccagaaaatcccaatac	5	15	1	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:55212739C>A	ENST00000447346.2	+	15	2151	c.2086C>A	c.(2086-2088)Ccg>Acg	p.P696T	IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.P554T	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	664					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACCTGAGATTCCGCCCAGAAA	0.512																																																	0													53	59	57					5																	55212739		2203	4300	6503	SO:0001583	missense	133396			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.2086C>A	5.37:g.55212739C>A	ENSP00000415900:p.Pro696Thr		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P696T	ENST00000447346.2	37	c.2086	CCDS3970.2	5	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897995	0.33535	.	.	ENSG00000164509	ENST00000447346;ENST00000490985	T;T	0.45668	1.06;0.89	5.12	2.33	0.28932	.	2.512940	0.01216	N	0.007967	T	0.49098	0.1537	M	0.63428	1.95	0.09310	N	1	P	0.47302	0.893	P	0.47981	0.563	T	0.21348	-1.0248	9	.	.	.	-0.0475	4.5927	0.12315	0.0:0.6093:0.1937:0.197	.	696	Q8NI17-2	.	T	696;554	ENSP00000415900:P696T;ENSP00000427533:P554T	.	P	+	1	0	IL31RA	55248496	0.000000	0.05858	0.005000	0.12908	0.087000	0.18053	-0.013000	0.12678	0.832000	0.34804	0.563000	0.77884	CCG	IL31RA	-	NULL		0.512	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1	C	NM_139017		55212739	1	no_errors	ENST00000447346	ensembl	human	known	70_37	missense	SNP	0.003	A	A	55212739	C	A	55212739	3	1	187	1	0	0	0	0	1	0	0	0	7711	855	30	3	2144	3	IL31RA	5	55212739	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	31690240	55212739	125702521	25	36227										
C5orf35	133383	genome.wustl.edu	37	chr5	56207082	56207082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	attactgaaagttttccaggCtctattcttaaatgatttca	5	7	3	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:56207082C>T	ENST00000285947.2	+	2	571	c.185C>T	c.(184-186)gCt>gTt	p.A62V	AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000541720.1_Missense_Mutation_p.A62V|SETD9_ENST00000475908.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	62							methyltransferase activity (GO:0008168)										GTTTTCCAGGCTCTATTCTTA	0.358																																																	0													40	41	41					5																	56207082		2203	4300	6503	SO:0001583	missense	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.185C>T	5.37:g.56207082C>T	ENSP00000285947:p.Ala62Val		F5H713	Missense_Mutation	SNP	NULL	p.A62V	ENST00000285947.2	37	c.185	CCDS3972.1	5	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967917	0.53507	.	.	ENSG00000155542	ENST00000285947;ENST00000541720;ENST00000423328	T;T	0.32988	1.43;1.43	5.3	5.3	0.74995	.	0.172532	0.50627	D	0.000108	T	0.31071	0.0785	L	0.50333	1.59	0.32688	N	0.514517	P	0.38110	0.618	B	0.34093	0.175	T	0.44421	-0.9329	10	0.45353	T	0.12	-1.6126	18.9741	0.92728	0.0:1.0:0.0:0.0	.	62	Q8NE22	CE035_HUMAN	V	62;62;36	ENSP00000285947:A62V;ENSP00000442886:A62V	ENSP00000285947:A62V	A	+	2	0	C5orf35	56242839	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	3.145000	0.50623	2.490000	0.84030	0.655000	0.94253	GCT	SETD9	-	NULL		0.358	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD9	HGNC	protein_coding	OTTHUMT00000132304.2	C	NM_153706		56207082	1	no_errors	ENST00000285947	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56207082	C	T	56207082	3	4	187	1	0	0	0	0	1	0	0	0	2299	797	28	4	191	4	C5orf35	5	56207082	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	994343	56207082	124708178	26	36228										
MAP1B	4131	genome.wustl.edu	37	chr5	71495568	71495568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cctcactcaatcagggggagCcccaccgcctccaggaggaa	11	16	3	0	rs139907989		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:71495568C>T	ENST00000296755.7	+	5	6684	c.6386C>T	c.(6385-6387)gCc>gTc	p.A2129V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2129					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGGGGGAGCCCCACCGCCT	0.547																																					Melanoma(17;367 822 11631 31730 47712)												0								C	VAL/ALA	0,4406		0,0,2203	69	73	72		6386	3.8	1	5	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAP1B	NM_005909.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2129/2469	71495568	1,13005	2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6386C>T	5.37:g.71495568C>T	ENSP00000296755:p.Ala2129Val		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.A2129V	ENST00000296755.7	37	c.6386	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406431	0.25378	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03553	3.89	5.66	3.79	0.43588	.	0.105878	0.41396	D	0.000892	T	0.03871	0.0109	L	0.36672	1.1	0.33821	D	0.629009	D;B	0.55385	0.971;0.009	B;B	0.42462	0.388;0.011	T	0.50625	-0.8806	10	0.18276	T	0.48	-22.7506	12.4797	0.55836	0.0:0.7193:0.2055:0.0751	.	2003;2129	A2BDK6;P46821	.;MAP1B_HUMAN	V	2129	ENSP00000296755:A2129V	ENSP00000296755:A2129V	A	+	2	0	MAP1B	71531324	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	1.407000	0.34657	1.421000	0.47157	0.655000	0.94253	GCC	MAP1B	-	NULL		0.547	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71495568	1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	0.952	T	T	71495568	C	T	71495568	3	4	187	1	0	0	0	0	1	0	0	0	9251	739	26	4	6404	4	MAP1B	5	71495568	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	15288486	71495568	109419692	27	36229										
COL4A3BP	10087	genome.wustl.edu	37	chr5	74722305	74722306	+	Splice_Site	INS	-	-	A													0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tccatatccagattcagtctINSaaaaaaaaaagtaaactatg					rs540751366	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:74722305_74722306insA	ENST00000405807.4	-	4	770		c.e4-2		COL4A3BP_ENST00000380494.5_Splice_Site|COL4A3BP_ENST00000261415.7_Splice_Site	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AGATTCAGTCTAAAAAAAAAAG	0.366																																																	0																																										SO:0001630	splice_region_variant	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.349-2->T	5.37:g.74722315_74722315dupA			A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	INS	-	e5-2	ENST00000405807.4	37	c.733-3_733-2	CCDS4028.1	5																																																																																			COL4A3BP	-	-		0.366	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	-	NM_005713	Intron	74722306	-1	no_errors	ENST00000380494	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.996	A	A	74722306	-	A	74722305	8	5	187	1	0	1	1	0	0	0	1	0	3697	1536	53	0	1583	0	COL4A3BP	5	74722305	Splice_Site	INS	-	TCGA-Q1-A73Q-01A-21D-A32I-09	3226737	74722305	106192955	28	36230										
VCAN	1462	genome.wustl.edu	37	chr5	82785938	82785938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	caaagtgggaaaaagcccacCggtgaggggctccctctctg	13	12	1	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:82785938C>T	ENST00000265077.3	+	3	657	c.92C>T	c.(91-93)cCg>cTg	p.P31L	VCAN_ENST00000513984.1_Missense_Mutation_p.P31L|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.P31L|VCAN_ENST00000502527.2_Missense_Mutation_p.P31L|VCAN_ENST00000342785.4_Missense_Mutation_p.P31L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	31	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAAGCCCACCGGTGAGGGGC	0.408																																																	0													47	47	47					5																	82785938		2200	4284	6484	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.92C>T	5.37:g.82785938C>T	ENSP00000265077:p.Pro31Leu		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.P31L	ENST00000265077.3	37	c.92	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560372	0.27827	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.098581	0.45606	D	0.000348	T	0.38161	0.1030	L	0.59967	1.855	0.49798	D	0.999827	B;P;P;P;B	0.44478	0.237;0.836;0.628;0.818;0.13	B;B;B;P;B	0.46026	0.066;0.248;0.123;0.501;0.079	T	0.08659	-1.0711	10	0.51188	T	0.08	.	14.0465	0.64708	0.0:0.9225:0.0:0.0775	.	31;31;31;31;31	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	L	31	ENSP00000265077:P31L;ENSP00000340062:P31L;ENSP00000342768:P31L;ENSP00000426251:P31L;ENSP00000426715:P31L;ENSP00000421362:P31L	ENSP00000265077:P31L	P	+	2	0	VCAN	82821694	0.002000	0.14202	0.014000	0.15608	0.012000	0.07955	1.835000	0.39181	2.843000	0.97960	0.655000	0.94253	CCG	VCAN	-	pfam_Ig_V-set,smart_Ig_sub		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82785938	1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.900	T	T	82785938	C	T	82785938	3	4	187	1	0	0	0	0	1	0	0	0	17169	652	23	2	98	2	VCAN	5	82785938	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	8063633	82785938	98129322	29	36231										
GRAMD3	65983	genome.wustl.edu	37	chr5	125820204	125820205	+	Frame_Shift_Ins	INS	-	-	T													0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tgaaggaaaagccaagagtcINStccctgtacagggtaaggaa							TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:125820204_125820205insT	ENST00000285689.3	+	10	1419_1420	c.958_959insT	c.(958-960)ctcfs	p.L320fs	GRAMD3_ENST00000544396.1_Frame_Shift_Ins_p.L216fs|GRAMD3_ENST00000502348.1_Frame_Shift_Ins_p.L211fs|RP11-517I3.1_ENST00000512500.1_RNA|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000511134.1_Frame_Shift_Ins_p.L304fs|GRAMD3_ENST00000542322.1_Frame_Shift_Ins_p.L328fs|GRAMD3_ENST00000543198.1_Frame_Shift_Ins_p.L298fs|GRAMD3_ENST00000515200.1_Frame_Shift_Ins_p.L298fs|GRAMD3_ENST00000513040.1_Frame_Shift_Ins_p.L335fs	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	320						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AGCCAAGAGTCTCCCTGTACAG	0.455																																																	0																																										SO:0001589	frameshift_variant	65983			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.959dupT	5.37:g.125820205_125820205dupT	ENSP00000285689:p.Leu320fs		B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Frame_Shift_Ins	INS	pfam_GRAM,smart_GRAM	p.V330fs	ENST00000285689.3	37	c.982_983	CCDS4136.1	5																																																																																			GRAMD3	-	NULL		0.455	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD3	HGNC	protein_coding	OTTHUMT00000250922.2	-	NM_023927		125820205	1	no_errors	ENST00000542322	ensembl	human	known	70_37	frame_shift_ins	INS	0.007:0.006	T	T	125820205	-	T	125820204	7	5	187	1	0	1	1	0	0	0	0	0	6771	913	32	0	1210	0	GRAMD3	5	125820204	Frame_Shift_Ins	INS	-	TCGA-Q1-A73Q-01A-21D-A32I-09	43034266	125820204	55095056	30	36232										
DDX46	9879	genome.wustl.edu	37	chr5	134120125	134120125	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ataatgtctggacgagatttGattggcattgccaaaacagg	11	6	1	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:134120125G>C	ENST00000354283.4	+	10	1371	c.1236G>C	c.(1234-1236)ttG>ttC	p.L412F	DDX46_ENST00000452510.2_Missense_Mutation_p.L412F|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	412	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACGAGATTTGATTGGCATTG	0.443																																					Colon(13;391 453 4901 21675 24897)												0													117	116	117					5																	134120125		2203	4300	6503	SO:0001583	missense	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1236G>C	5.37:g.134120125G>C	ENSP00000346236:p.Leu412Phe		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L412F	ENST00000354283.4	37	c.1236	CCDS34240.1	5	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413016	0.62511	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.27402	1.67;1.67	5.93	5.07	0.68467	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.64567	1.98	0.80722	D	1	P	0.42649	0.786	P	0.48089	0.566	T	0.28776	-1.0033	10	0.72032	D	0.01	-9.3081	6.9602	0.24593	0.1418:0.0:0.7165:0.1417	.	412	Q7L014	DDX46_HUMAN	F	412	ENSP00000416534:L412F;ENSP00000346236:L412F	ENSP00000346236:L412F	L	+	3	2	DDX46	134148024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.401000	0.44513	1.508000	0.48769	0.655000	0.94253	TTG	DDX46	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.443	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	G	NM_014829		134120125	1	no_errors	ENST00000452510	ensembl	human	known	70_37	missense	SNP	1.000	C	C	134120125	G	C	134120125	3	2	187	1	0	0	0	0	1	0	0	0	4369	1281	45	1	1274	1	DDX46	5	134120125	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	8299921	134120125	46795135	31	36233										
HAVCR2	84868	genome.wustl.edu	37	chr5	156522377	156522377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cccagcacagatccctgctcCgatgtagatgcctattctga	8	14	1	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:156522377C>T	ENST00000307851.4	-	5	1346	c.616G>A	c.(616-618)Gga>Aga	p.G206R	HAVCR2_ENST00000522593.1_Missense_Mutation_p.G178R	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	206						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCCTGCTCCGATGTAGATG	0.453																																																	0													106	106	106					5																	156522377		2203	4300	6503	SO:0001583	missense	84868			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"Immunoglobulin superfamily / V-set domain containing"	18437	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 3"	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.616G>A	5.37:g.156522377C>T	ENSP00000312002:p.Gly206Arg		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.G206R	ENST00000307851.4	37	c.616	CCDS4333.1	5	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159958	0.57368	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.42131	0.98;1.52	4.18	3.31	0.37934	.	0.000000	0.46442	D	0.000286	T	0.54062	0.1835	M	0.77103	2.36	0.09310	N	0.999998	D	0.67145	0.996	P	0.55824	0.785	T	0.49072	-0.8977	10	0.87932	D	0	-5.3524	7.869	0.29554	0.0:0.8894:0.0:0.1106	.	206	Q8TDQ0	HAVR2_HUMAN	R	206;178	ENSP00000312002:G206R;ENSP00000430873:G178R	ENSP00000312002:G206R	G	-	1	0	HAVCR2	156454955	0.162000	0.22906	0.226000	0.23910	0.059000	0.15707	1.728000	0.38105	1.346000	0.45694	0.655000	0.94253	GGA	HAVCR2	-	NULL		0.453	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR2	HGNC	protein_coding	OTTHUMT00000252574.2	C			156522377	-1	no_errors	ENST00000307851	ensembl	human	known	70_37	missense	SNP	0.306	T	T	156522377	C	T	156522377	3	4	187	1	0	0	0	0	1	0	0	0	6994	661	23	2	301	2	HAVCR2	5	156522377	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	22402252	156522377	24392883	32	36234										
DOCK2	1794	genome.wustl.edu	37	chr5	169143268	169143268	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	acatcatgatggagcattctCaaagtgatgaatatgacatc	8	7	2	4			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr5:169143268C>A	ENST00000256935.8	+	20	2073	c.1993C>A	c.(1993-1995)Caa>Aaa	p.Q665K	DOCK2_ENST00000520908.1_Missense_Mutation_p.Q157K|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	665					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCATTCTCAAAGTGATGA	0.403																																																	0													152	132	138					5																	169143268		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1993C>A	5.37:g.169143268C>A	ENSP00000256935:p.Gln665Lys		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.Q665K	ENST00000256935.8	37	c.1993	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206580	0.58343	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.19806	2.12;2.12	5.39	5.39	0.77823	.	0.107799	0.64402	D	0.000005	T	0.17789	0.0427	L	0.31752	0.955	0.80722	D	1	B;B	0.28971	0.229;0.189	B;B	0.26864	0.074;0.058	T	0.05517	-1.0880	10	0.18710	T	0.47	.	19.1719	0.93581	0.0:1.0:0.0:0.0	.	157;665	E7ERW7;Q92608	.;DOCK2_HUMAN	K	665;157	ENSP00000256935:Q665K;ENSP00000429283:Q157K	ENSP00000256935:Q665K	Q	+	1	0	DOCK2	169075846	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.022000	0.41030	2.534000	0.85438	0.655000	0.94253	CAA	DOCK2	-	superfamily_ARM-type_fold		0.403	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	C	NM_004946		169143268	1	no_errors	ENST00000256935	ensembl	human	known	70_37	missense	SNP	1.000	A	A	169143268	C	A	169143268	3	1	187	1	0	0	0	0	1	0	0	0	4697	827	29	3	2071	3	DOCK2	5	169143268	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	12620891	169143268	11771992	33	36235										
FARS2	10667	genome.wustl.edu	37	chr6	5368821	5368821	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	acaatggtgggctcagctctCaggagaggtgcccatgcata	13	10	2	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:5368821C>G	ENST00000324331.6	+	2	354	c.18C>G	c.(16-18)ctC>ctG	p.L6L	FARS2_ENST00000274680.4_Silent_p.L6L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	6					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GCTCAGCTCTCAGGAGAGGTG	0.547																																																	0													76	75	75					6																	5368821		2203	4300	6503	SO:0001819	synonymous_variant	10667			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	21062	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 2, mitochondrial"	611592	"phenylalanine-tRNA synthetase 1 (mitochondrial)"	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.18C>G	6.37:g.5368821C>G			B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Silent	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito	p.L6	ENST00000324331.6	37	c.18	CCDS4494.1	6																																																																																			FARS2	-	NULL		0.547	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FARS2	HGNC	protein_coding	OTTHUMT00000467790.1	C	NM_006567		5368821	1	no_errors	ENST00000274680	ensembl	human	known	70_37	silent	SNP	0.002	G	G	5368821	C	G	5368821	2	3	187	1	0	0	0	0	0	0	0	1	5696	813	29	1		1	FARS2	6	5368821	Silent	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09		5368821	165746246	34	36236										
COL19A1	1310	genome.wustl.edu	37	chr6	70894806	70894806	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cagaggccccaaaggagaacGtgtatgtatattactattgt	10	7	0	2	rs141121240		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:70894806G>T	ENST00000322773.4	+	46	2957	c.2855G>T	c.(2854-2856)cGt>cTt	p.R952L	COL19A1_ENST00000393344.1_Splice_Site_p.R574L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	952	Collagen-like 11.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAGGAGAACGTGTATGTATA	0.408																																																	0													181	170	174					6																	70894806		2203	4300	6503	SO:0001630	splice_region_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2856+1G>T	6.37:g.70894806G>T			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R952L	ENST00000322773.4	37	c.2855	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232328	0.79688	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.96200	-3.94;-3.94	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.96081	0.8723	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94118	0.7377	10	0.29301	T	0.29	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	952	Q14993	COJA1_HUMAN	L	952;574;27	ENSP00000316030:R952L;ENSP00000377013:R574L	ENSP00000316030:R952L	R	+	2	0	COL19A1	70951527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.027000	0.88791	2.941000	0.99782	0.655000	0.94253	CGT	COL19A1	-	pfam_Collagen		0.408	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G		Missense_Mutation	70894806	1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	1.000	T	T	70894806	G	T	70894806	5	4	187	1	0	0	0	0	0	0	1	0	3681	1159	40	2	3033	2	COL19A1	6	70894806	Splice_Site	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	65525985	70894806	100220261	35	36237										
DDX43	55510	genome.wustl.edu	37	chr6	74117275	74117275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	catgttagttctaactcccaCtcgggaattagcacttcaag	7	11	2	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:74117275C>A	ENST00000370336.4	+	8	1132	c.974C>A	c.(973-975)aCt>aAt	p.T325N	DDX43_ENST00000539829.1_3'UTR|DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	325	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTAACTCCCACTCGGGAATTA	0.383																																																	0													143	154	150					6																	74117275		2203	4300	6503	SO:0001583	missense	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.974C>A	6.37:g.74117275C>A	ENSP00000359361:p.Thr325Asn		B4E0C8|Q6NXR1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T325N	ENST00000370336.4	37	c.974	CCDS4977.1	6	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233383	0.39498	.	.	ENSG00000080007	ENST00000370336	T	0.19806	2.12	4.91	4.03	0.46877	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68588	-0.5369	10	0.87932	D	0	-0.0775	14.5456	0.68027	0.0:0.8521:0.1479:0.0	.	325	Q9NXZ2	DDX43_HUMAN	N	325	ENSP00000359361:T325N	ENSP00000359361:T325N	T	+	2	0	DDX43	74173996	1.000000	0.71417	0.009000	0.14445	0.011000	0.07611	6.514000	0.73746	1.179000	0.42884	0.655000	0.94253	ACT	DDX43	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.383	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3	C	NM_018665		74117275	1	no_errors	ENST00000370336	ensembl	human	known	70_37	missense	SNP	0.879	A	A	74117275	C	A	74117275	3	1	187	1	0	0	0	0	1	0	0	0	4368	565	20	4	1004	4	DDX43	6	74117275	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	3222469	74117275	96997792	36	36238										
C6orf167	253714	genome.wustl.edu	37	chr6	97609947	97609947	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tagttcaacttcataaatgtCtgtgttagtttccttgaaga	7	6	3	2	rs373735458		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:97609947C>G	ENST00000275053.4	-	22	3581	c.3316G>C	c.(3316-3318)Gac>Cac	p.D1106H	MMS22L_ENST00000369251.2_Missense_Mutation_p.D1066H	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1106					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCATAAATGTCTGTGTTAGTT	0.413																																																	0													120	116	118					6																	97609947		2203	4300	6503	SO:0001583	missense	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3316G>C	6.37:g.97609947C>G	ENSP00000275053:p.Asp1106His		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D1106H	ENST00000275053.4	37	c.3316	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660867	0.47572	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.34859	3.48;1.34	5.87	5.87	0.94306	.	0.250118	0.45126	D	0.000397	T	0.44787	0.1310	L	0.53249	1.67	0.43130	D	0.994865	D;P	0.61697	0.99;0.925	P;P	0.55999	0.789;0.639	T	0.33266	-0.9875	10	0.62326	D	0.03	-17.8264	20.2032	0.98269	0.0:1.0:0.0:0.0	.	1066;1106	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	H	1106;1066	ENSP00000275053:D1106H;ENSP00000358254:D1066H	ENSP00000275053:D1106H	D	-	1	0	MMS22L	97716668	0.395000	0.25254	0.034000	0.17996	0.010000	0.07245	2.639000	0.46570	2.785000	0.95823	0.650000	0.86243	GAC	MMS22L	-	superfamily_ARM-type_fold		0.413	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	C	NM_198468		97609947	-1	no_errors	ENST00000275053	ensembl	human	known	70_37	missense	SNP	0.718	G	G	97609947	C	G	97609947	3	3	187	1	0	0	0	0	1	0	0	0	2347	913	32	1	431	1	C6orf167	6	97609947	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	23492672	97609947	73505120	37	36239			1	143		2	2	26	N	G_C	7.510202e-05
C6orf167	253714	genome.wustl.edu	37	chr6	97609972	97609972	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ttagtttccttgaagagttgGaggatgaaggccagaatgga	14	4	0	4			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:97609972G>C	ENST00000275053.4	-	22	3556	c.3291C>G	c.(3289-3291)ctC>ctG	p.L1097L	MMS22L_ENST00000369251.2_Silent_p.L1057L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1097					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGAAGAGTTGGAGGATGAAGG	0.418																																																	0													127	121	123					6																	97609972		2203	4300	6503	SO:0001819	synonymous_variant	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3291C>G	6.37:g.97609972G>C			D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	superfamily_ARM-type_fold	p.L1097	ENST00000275053.4	37	c.3291	CCDS5039.1	6																																																																																			MMS22L	-	superfamily_ARM-type_fold		0.418	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	G	NM_198468		97609972	-1	no_errors	ENST00000275053	ensembl	human	known	70_37	silent	SNP	1.000	C	C	97609972	G	C	97609972	2	2	187	1	0	0	0	0	0	0	0	1	2347	1161	41	1		1	C6orf167	6	97609972	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	25	97609972	73505095	38	36240			1	143		2	2	26	N	G_C	7.510202e-05
RFPL4B	442247	genome.wustl.edu	37	chr6	112671103	112671103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tacctgctttggaagaatggCaagtgagcgtcctaacactt	10	9	0	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr6:112671103C>A	ENST00000441065.2	+	3	505	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	65							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGAAGAATGGCAAGTGAGCGT	0.493																																																	0													129	108	115					6																	112671103		2203	4300	6503	SO:0001583	missense	442247			AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"RING-type (C3HC4) zinc fingers"	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.193C>A	6.37:g.112671103C>A	ENSP00000423391:p.Gln65Lys		A2RU91	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.Q65K	ENST00000441065.2	37	c.193	CCDS34515.1	6	.	.	.	.	.	.	.	.	.	.	C	8.915	0.959704	0.18507	.	.	ENSG00000251258	ENST00000441065	T	0.70164	-0.46	3.8	-0.45	0.12223	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.25606	0.0623	L	0.39245	1.2	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.34304	-0.9834	9	0.06494	T	0.89	.	8.7372	0.34537	0.151:0.3161:0.5328:0.0	.	65	Q6ZWI9	RFPLB_HUMAN	K	65	ENSP00000423391:Q65K	ENSP00000423391:Q65K	Q	+	1	0	RFPL4B	112777796	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.187000	0.09656	-0.097000	0.12307	-0.165000	0.13383	CAA	RFPL4B	-	NULL		0.493	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL4B	HGNC	protein_coding	OTTHUMT00000041885.2	C	NM_001013734		112671103	1	no_errors	ENST00000441065	ensembl	human	known	70_37	missense	SNP	0.000	A	A	112671103	C	A	112671103	3	1	187	1	0	0	0	0	1	0	0	0	13286	711	25	4	195	4	RFPL4B	6	112671103	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	15061131	112671103	58443964	39	36241										
SLC25A13	10165	genome.wustl.edu	37	chr7	95820510	95820510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tgttaaggagcgaattaaatCcattaaaataggagaaacta	8	4	0	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr7:95820510C>A	ENST00000265631.5	-	7	801	c.665G>T	c.(664-666)gGa>gTa	p.G222V	SLC25A13_ENST00000542654.1_Missense_Mutation_p.G114V|SLC25A13_ENST00000416240.2_Missense_Mutation_p.G222V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	222					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CGAATTAAATCCATTAAAATA	0.368																																																	0													131	129	130					7																	95820510		2203	4300	6503	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.665G>T	7.37:g.95820510C>A	ENSP00000265631:p.Gly222Val		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.G222V	ENST00000265631.5	37	c.665	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435099	0.43224	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79247	-1.25;-1.25;-1.25	5.18	5.18	0.71444	EF-hand-like domain (1);	0.062472	0.64402	D	0.000007	T	0.71056	0.3295	L	0.36672	1.1	0.80722	D	1	B;B;B	0.34147	0.438;0.311;0.311	B;B;B	0.35182	0.197;0.097;0.097	T	0.73946	-0.3822	10	0.87932	D	0	-17.5109	14.8361	0.70183	0.0:0.8566:0.1434:0.0	.	114;222;222	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	222;222;114	ENSP00000265631:G222V;ENSP00000400101:G222V;ENSP00000440484:G114V	ENSP00000265631:G222V	G	-	2	0	SLC25A13	95658446	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.574000	0.36482	2.868000	0.98415	0.557000	0.71058	GGA	SLC25A13	-	NULL		0.368	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	C	NM_014251		95820510	-1	no_errors	ENST00000416240	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95820510	C	A	95820510	3	1	187	1	0	0	0	0	1	0	0	0	14505	855	30	3	1413	3	SLC25A13	7	95820510	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09		95820510	63318153	40	36242										
PTPRZ1	5803	genome.wustl.edu	37	chr7	121652525	121652525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tggtgacacttcgcttaaacCtgtgcttagtgcaaactcag	9	10	1	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr7:121652525C>A	ENST00000393386.2	+	12	3836	c.3425C>A	c.(3424-3426)cCt>cAt	p.P1142H	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1142					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCGCTTAAACCTGTGCTTAGT	0.408																																																	0													174	165	168					7																	121652525		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3425C>A	7.37:g.121652525C>A	ENSP00000377047:p.Pro1142His		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P1142H	ENST00000393386.2	37	c.3425	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922265	0.33908	.	.	ENSG00000106278	ENST00000393386	T	0.44881	0.91	5.21	2.31	0.28768	.	0.477337	0.21375	N	0.075574	T	0.44603	0.1301	M	0.67953	2.075	0.80722	D	1	D	0.55172	0.97	P	0.49708	0.62	T	0.37126	-0.9719	10	0.87932	D	0	.	4.8088	0.13333	0.147:0.6075:0.0:0.2454	.	1142	P23471	PTPRZ_HUMAN	H	1142	ENSP00000377047:P1142H	ENSP00000377047:P1142H	P	+	2	0	PTPRZ1	121439761	0.047000	0.20315	0.976000	0.42696	0.761000	0.43186	0.779000	0.26746	0.246000	0.21394	0.555000	0.69702	CCT	PTPRZ1	-	NULL		0.408	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	C	NM_002851		121652525	1	no_errors	ENST00000393386	ensembl	human	known	70_37	missense	SNP	0.999	A	A	121652525	C	A	121652525	3	1	187	1	0	0	0	0	1	0	0	0	12844	681	24	4	3471	4	PTPRZ1	7	121652525	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	25832015	121652525	37486138	41	36243										
ZNF800	168850	genome.wustl.edu	37	chr7	127014880	127014880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tgttcagtgctagtttcctgTatctgaacttcggtttgttc	9	8	2	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr7:127014880T>C	ENST00000393313.1	-	5	1101	c.510A>G	c.(508-510)atA>atG	p.I170M	ZNF800_ENST00000265827.3_Missense_Mutation_p.I170M|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Missense_Mutation_p.I170M			Q2TB10	ZN800_HUMAN	zinc finger protein 800	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TAGTTTCCTGTATCTGAACTT	0.398																																																	0													132	127	129					7																	127014880		2203	4300	6503	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.510A>G	7.37:g.127014880T>C	ENSP00000376989:p.Ile170Met		Q9HBN0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I170M	ENST00000393313.1	37	c.510	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	T	5.998	0.367968	0.11352	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602	T;T;T;T	0.47528	2.46;2.46;2.46;0.84	5.38	0.0998	0.14504	.	0.516576	0.24429	N	0.038618	T	0.23611	0.0571	N	0.12182	0.205	0.28492	N	0.914422	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07462	-1.0771	9	0.40728	T	0.16	6.4934	5.6624	0.17676	0.0:0.2943:0.2474:0.4583	.	73;170	B7Z4V7;Q2TB10	.;ZN800_HUMAN	M	170	ENSP00000376989:I170M;ENSP00000265827:I170M;ENSP00000376988:I170M;ENSP00000403945:I170M	ENSP00000265827:I170M	I	-	3	3	ZNF800	126802116	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.496000	0.22499	0.080000	0.16959	0.528000	0.53228	ATA	ZNF800	-	NULL		0.398	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	T	NM_176814		127014880	-1	no_errors	ENST00000265827	ensembl	human	known	70_37	missense	SNP	0.994	C	C	127014880	T	C	127014880	3	2	187	1	0	0	0	0	1	0	0	0	18199	1628	57	5	1492	5	ZNF800	7	127014880	Missense_Mutation	SNP	T	TCGA-Q1-A73Q-01A-21D-A32I-09	5362355	127014880	32123783	42	36244										
TRYX3	136541	genome.wustl.edu	37	chr7	141952174	141952174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gcatcccattgcagattgccGgggcagcagaaacttcctgc	11	13	0	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr7:141952174G>A	ENST00000552471.1	-	5	912	c.593C>T	c.(592-594)cCg>cTg	p.P198L	PRSS58_ENST00000547058.2_Missense_Mutation_p.P198L			Q8IYP2	PRS58_HUMAN	protease, serine, 58	198	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCAGATTGCCGGGGCAGCAGA	0.393																																																	0													49	51	51					7																	141952174		2203	4300	6503	SO:0001583	missense	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.593C>T	7.37:g.141952174G>A	ENSP00000446916:p.Pro198Leu		B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.P198L	ENST00000552471.1	37	c.593	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521634	0.44866	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.94457	-3.43;-3.43	5.24	4.32	0.51571	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97936	0.9321	H	0.98276	4.19	0.48762	D	0.999702	D	0.89917	1.0	D	0.64687	0.928	D	0.97625	1.0138	9	0.87932	D	0	.	8.753	0.34629	0.109:0.0:0.891:0.0	.	198	Q8IYP2	PRS58_HUMAN	L	198	ENSP00000447588:P198L;ENSP00000446916:P198L	ENSP00000307206:P198L	P	-	2	0	PRSS58	141598652	1.000000	0.71417	0.936000	0.37596	0.117000	0.20001	4.126000	0.57937	1.347000	0.45714	-0.345000	0.07892	CCG	PRSS58	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6		0.393	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	G	NM_001001317		141952174	-1	no_errors	ENST00000547058	ensembl	human	known	70_37	missense	SNP	0.988	A	A	141952174	G	A	141952174	3	1	187	1	0	0	0	0	1	0	0	0	16635	1116	39	2	136	2	TRYX3	7	141952174	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	14937294	141952174	17186489	43	36245										
FBXO16	157574	genome.wustl.edu	37	chr8	28314370	28314370	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	aagggagttggagagaaattGatgtaccagttaaaccgtaa	12	4	0	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr8:28314370G>T	ENST00000380254.2	-	5	568	c.420C>A	c.(418-420)atC>atA	p.I140I	RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Silent_p.I128I|FBXO16_ENST00000517436.1_5'UTR|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000518734.1_Silent_p.I128I	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	140										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GAGAGAAATTGATGTACCAGT	0.408																																																	0													115	108	110					8																	28314370		2203	4300	6503	SO:0001819	synonymous_variant	157574			AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.420C>A	8.37:g.28314370G>T			Q3T1B2|Q3T1B3|Q3T1B4	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.I140	ENST00000380254.2	37	c.420	CCDS6068.1	8																																																																																			FBXO16	-	superfamily_F-box_dom_cyclin-like		0.408	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO16	HGNC	protein_coding	OTTHUMT00000219988.2	G	NM_172366		28314370	-1	no_errors	ENST00000521548	ensembl	human	known	70_37	silent	SNP	0.970	T	T	28314370	G	T	28314370	2	4	187	1	0	0	0	0	0	0	0	1	5747	1280	45	3		3	FBXO16	8	28314370	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		28314370	118049652	44	36246										
TERF1	7013	genome.wustl.edu	37	chr8	73951440	73951440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	taactcctgaaaaacatcgaGctagaaaaagacaggtattt	7	7	0	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr8:73951440G>T	ENST00000276603.5	+	9	1152	c.1129G>T	c.(1129-1131)Gct>Tct	p.A377S	TERF1_ENST00000276602.6_Missense_Mutation_p.A357S	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	377	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with RLIM.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AAAACATCGAGCTAGAAAAAG	0.338																																																	0													39	43	41					8																	73951440		2203	4300	6503	SO:0001583	missense	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.1129G>T	8.37:g.73951440G>T	ENSP00000276603:p.Ala377Ser		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.A377S	ENST00000276603.5	37	c.1129	CCDS6211.1	8	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.417758	0.01136	.	.	ENSG00000147601	ENST00000276603;ENST00000276602	.	.	.	4.04	-8.08	0.01094	Transcription regulator HTH, Myb-type, DNA-binding (1);Homeodomain-related (1);Homeodomain-like (1);	1.495660	0.03887	N	0.277981	T	0.06508	0.0167	N	0.01048	-1.04	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.13845	-1.0494	9	0.02654	T	1	.	2.6027	0.04870	0.2009:0.3474:0.3201:0.1316	.	357;377	P54274-2;P54274	.;TERF1_HUMAN	S	377;357	.	ENSP00000276602:A357S	A	+	1	0	TERF1	74113994	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-1.474000	0.02337	-2.630000	0.00435	-0.535000	0.04281	GCT	TERF1	-	superfamily_Homeodomain-like,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom		0.338	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1	G	NM_017489		73951440	1	no_errors	ENST00000276603	ensembl	human	known	70_37	missense	SNP	0.000	T	T	73951440	G	T	73951440	3	4	187	1	0	0	0	0	1	0	0	0	15791	971	34	4	1163	4	TERF1	8	73951440	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	45637070	73951440	72412582	45	36247										
TEK	7010	genome.wustl.edu	37	chr9	27203078	27203078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	acatagggtcaagcaacccaGccttttctcatgaactggtg	9	11	2	1	rs4631561	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr9:27203078G>T	ENST00000380036.4	+	13	2612	c.2170G>T	c.(2170-2172)Gcc>Tcc	p.A724S	TEK_ENST00000406359.4_Missense_Mutation_p.A681S|TEK_ENST00000519097.1_Missense_Mutation_p.A577S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	724	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> T (in dbSNP:rs4631561). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AAGCAACCCAGCCTTTTCTCA	0.478																																																	0													79	75	76					9																	27203078		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2170G>T	9.37:g.27203078G>T	ENSP00000369375:p.Ala724Ser		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A724S	ENST00000380036.4	37	c.2170	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	7.076	0.569206	0.13560	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.09630	2.96;2.96;2.96	5.58	-7.66	0.01277	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.503030	0.04318	N	0.350123	T	0.02970	0.0088	N	0.03608	-0.345	0.80722	P	0.0	B;B;B;B	0.16802	0.007;0.003;0.0;0.019	B;B;B;B	0.24848	0.039;0.012;0.001;0.056	T	0.35822	-0.9773	9	0.02654	T	1	.	2.4061	0.04413	0.3333:0.306:0.2614:0.0993	.	577;757;681;724	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	S	577;724;681	ENSP00000430686:A577S;ENSP00000369375:A724S;ENSP00000383977:A681S	ENSP00000369375:A724S	A	+	1	0	TEK	27193078	0.001000	0.12720	0.298000	0.25002	0.953000	0.61014	0.297000	0.19101	-1.119000	0.02958	-0.334000	0.08254	GCC	TEK	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	G			27203078	1	no_errors	ENST00000380036	ensembl	human	known	70_37	missense	SNP	0.023	T	T	27203078	G	T	27203078	3	4	187	1	0	0	0	0	1	0	0	0	15781	971	34	4	2220	4	TEK	9	27203078	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		27203078	114010353	46	36248										
FAM122A	116224	genome.wustl.edu	37	chr9	71395260	71395260	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gaggcgccgagcgccaggcgGaacagcacaacgttcccgag	15	14	0	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr9:71395260G>A	ENST00000394264.3	+	1	297	c.180G>A	c.(178-180)cgG>cgA	p.R60R	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	60										endometrium(1)|lung(2)	3						GCGCCAGGCGGAACAGCACAA	0.692																																																	0													26	31	29					9																	71395260		2196	4287	6483	SO:0001819	synonymous_variant	116224			AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 42"	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.180G>A	9.37:g.71395260G>A				Silent	SNP	NULL	p.R60	ENST00000394264.3	37	c.180	CCDS6623.1	9																																																																																			FAM122A	-	NULL		0.692	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM122A	HGNC	protein_coding	OTTHUMT00000052556.1	G	NM_138333		71395260	1	no_errors	ENST00000394264	ensembl	human	known	70_37	silent	SNP	0.995	A	A	71395260	G	A	71395260	2	1	187	1	0	0	0	0	0	0	0	1	5434	1161	41	1		1	FAM122A	9	71395260	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	44192182	71395260	69818171	47	36249										
WNK2	65268	genome.wustl.edu	37	chr9	96015293	96015293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cccagtgtgtgtgcagccccCctgtgagcgaggggcccgtc	15	15	0	1	rs561344476		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr9:96015293C>T	ENST00000297954.4	+	8	1963	c.1963C>T	c.(1963-1965)Cct>Tct	p.P655S	WNK2_ENST00000427277.2_Missense_Mutation_p.P267S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P655S|WNK2_ENST00000349097.3_Missense_Mutation_p.P267S|WNK2_ENST00000395475.2_Missense_Mutation_p.P641S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	655					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTGCAGCCCCCCTGTGAGCGA	0.687																																																	0													16	13	14					9																	96015293		2184	4267	6451	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1963C>T	9.37:g.96015293C>T	ENSP00000297954:p.Pro655Ser		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P655S	ENST00000297954.4	37	c.1963		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.138020|2.138020	0.37728|0.37728	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277	T|T;T;T;T;T;T	0.63913|0.71461	-0.07|-0.57;-0.57;-0.54;-0.55;0.06;0.05	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.123149|0.123149	0.56097|0.56097	D|D	0.000031|0.000031	T|T	0.81163|0.81163	0.4765|0.4765	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.998;0.998;0.996;0.998;0.996	T|T	0.80254|0.80254	-0.1459|-0.1459	8|10	0.66056|0.37606	D|T	0.02|0.19	.|.	17.892|17.892	0.88875|0.88875	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|655;655;258;655;655	.|Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	L|S	258|655;655;655;641;267;267	ENSP00000414622:P258L|ENSP00000412465:P655S;ENSP00000297954:P655S;ENSP00000378860:P655S;ENSP00000378858:P641S;ENSP00000297876:P267S;ENSP00000411181:P267S	ENSP00000414622:P258L|ENSP00000297954:P655S	P|P	+|+	2|1	0|0	WNK2|WNK2	95055114|95055114	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.184000|0.184000	0.23303|0.23303	5.728000|5.728000	0.68531|0.68531	2.190000|2.190000	0.69967|0.69967	0.655000|0.655000	0.94253|0.94253	CCC|CCT	WNK2	-	NULL		0.687	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	C	NM_006648		96015293	1	no_errors	ENST00000297954	ensembl	human	known	70_37	missense	SNP	0.988	T	T	96015293	C	T	96015293	3	4	187	1	0	0	0	0	1	0	0	0	17409	623	22	4	1993	4	WNK2	9	96015293	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	24620033	96015293	45198138	48	36250										
SPTAN1	6709	genome.wustl.edu	37	chr9	131345416	131345416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cttttgaggctgagctctcaGcaaaccagagccgaattgat	10	10	1	4			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr9:131345416G>A	ENST00000372731.4	+	15	1977	c.1867G>A	c.(1867-1869)Gca>Aca	p.A623T	SPTAN1_ENST00000358161.5_Missense_Mutation_p.A623T|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A623T	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	623					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAGCTCTCAGCAAACCAGAG	0.463																																					NSCLC(120;833 1744 2558 35612 37579)												0													71	71	71					9																	131345416		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1867G>A	9.37:g.131345416G>A	ENSP00000361816:p.Ala623Thr		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.A623T	ENST00000372731.4	37	c.1867	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55588	0.51;0.51;0.51	5.95	5.95	0.96441	.	0.050763	0.85682	D	0.000000	T	0.74129	0.3676	M	0.76328	2.33	0.80722	D	1	D;D;D;P;P	0.89917	1.0;0.997;1.0;0.456;0.866	D;D;D;B;P	0.91635	0.999;0.992;0.999;0.254;0.752	T	0.73209	-0.4055	10	0.51188	T	0.08	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	623;623;623;623;623	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	T	623	ENSP00000350882:A623T;ENSP00000361816:A623T;ENSP00000361824:A623T	ENSP00000350882:A623T	A	+	1	0	SPTAN1	130385237	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GCA	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.463	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131345416	1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	A	A	131345416	G	A	131345416	3	1	187	1	0	0	0	0	1	0	0	0	15147	971	34	4	1921	4	SPTAN1	9	131345416	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	35330123	131345416	9868015	49	36251										
ITGA8	8516	genome.wustl.edu	37	chr10	15634299	15634299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ctgcaaatcggaggcccaggGaatactaaaaaataaaataa	8	7	0	0	rs34933317		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr10:15634299G>T	ENST00000378076.3	-	22	2569	c.2216C>A	c.(2215-2217)tCc>tAc	p.S739Y		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	739					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGGCCCAGGGAATACTAAAA	0.378																																																	0													81	72	75					10																	15634299		2203	4300	6503	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2216C>A	10.37:g.15634299G>T	ENSP00000367316:p.Ser739Tyr		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S739Y	ENST00000378076.3	37	c.2216	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958035	0.18507	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.48522	0.81	5.43	4.53	0.55603	Integrin alpha-2 (1);	0.261494	0.45867	D	0.000332	T	0.63861	0.2547	M	0.63428	1.95	0.48901	D	0.999724	D;D	0.89917	1.0;1.0	D;D	0.77557	0.989;0.99	T	0.65821	-0.6075	10	0.56958	D	0.05	.	12.2226	0.54443	0.0799:0.0:0.9201:0.0	.	724;739	F5H818;P53708	.;ITA8_HUMAN	Y	739;724	ENSP00000367316:S739Y	ENSP00000367316:S739Y	S	-	2	0	ITGA8	15674305	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.535000	0.53575	1.417000	0.47077	0.655000	0.94253	TCC	ITGA8	-	pfam_Integrin_alpha-2		0.378	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	G	NM_003638		15634299	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	missense	SNP	1.000	T	T	15634299	G	T	15634299	3	4	187	1	0	0	0	0	1	0	0	0	7902	1174	41	3	1011	3	ITGA8	10	15634299	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		15634299	119900448	50	36252										
PHYHIPL	84457	genome.wustl.edu	37	chr10	61004878	61004878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	acagtggtagccatggctctCctatcagtggaaaattagaa	10	8	2	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr10:61004878C>A	ENST00000373880.4	+	5	922	c.658C>A	c.(658-660)Cct>Act	p.P220T	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.P194T	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	220						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CCATGGCTCTCCTATCAGTGG	0.438																																																	0													73	68	70					10																	61004878		2203	4300	6503	SO:0001583	missense	84457			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.658C>A	10.37:g.61004878C>A	ENSP00000362987:p.Pro220Thr		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P220T	ENST00000373880.4	37	c.658	CCDS7254.1	10	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795561	0.50208	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.31510	1.89;1.49	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.58836	0.2150	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51387	-0.8712	10	0.27785	T	0.31	-4.2729	20.1162	0.97934	0.0:1.0:0.0:0.0	.	194;220	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	T	220;194	ENSP00000362987:P220T;ENSP00000362985:P194T	ENSP00000362985:P194T	P	+	1	0	PHYHIPL	60674884	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.756000	0.94617	0.655000	0.94253	CCT	PHYHIPL	-	NULL		0.438	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYHIPL	HGNC	protein_coding	OTTHUMT00000048156.1	C	NM_032439		61004878	1	no_errors	ENST00000373880	ensembl	human	known	70_37	missense	SNP	1.000	A	A	61004878	C	A	61004878	3	1	187	1	0	0	0	0	1	0	0	0	11891	855	30	3	708	3	PHYHIPL	10	61004878	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	45370579	61004878	74529869	51	36253										
TNKS2	80351	genome.wustl.edu	37	chr10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A													0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tagcatggtgcagaccctacINSaaaaaaaaacagggatggaa							TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs		B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N622fs	ENST00000371627.4	37	c.1856_1857	CCDS7417.1	10																																																																																			TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	-	NM_025235		93601946	1	no_errors	ENST00000371627	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.997	A	A	93601946	-	A	93601945	7	5	187	1	0	1	1	0	0	0	0	0	16351	478	17	0	1918	0	TNKS2	10	93601945	Frame_Shift_Ins	INS	-	TCGA-Q1-A73Q-01A-21D-A32I-09	32597067	93601945	41932802	52	36254										
EPS8L2	64787	genome.wustl.edu	37	chr11	726667	726667	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gggccgcagctcttctccctCaacaaggaggagctgaagaa	12	12	3	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:726667C>T	ENST00000533256.1	+	21	2358	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	EPS8L2_ENST00000318562.8_Silent_p.L661L|EPS8L2_ENST00000526198.1_Silent_p.L677L|EPS8L2_ENST00000534449.1_3'UTR|EPS8L2_ENST00000530636.1_Silent_p.L661L|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	661					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTTCTCCCTCAACAAGGAGG	0.677																																																	0													18	19	19					11																	726667		2165	4254	6419	SO:0001819	synonymous_variant	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1983C>T	11.37:g.726667C>T			B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.L661	ENST00000533256.1	37	c.1983	CCDS31328.1	11																																																																																			EPS8L2	-	superfamily_SAM/pointed		0.677	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPS8L2	HGNC	protein_coding	OTTHUMT00000382344.1	C	NM_022772		726667	1	no_errors	ENST00000318562	ensembl	human	known	70_37	silent	SNP	0.987	T	T	726667	C	T	726667	2	4	187	1	0	0	0	0	0	0	0	1	5208	813	29	1		1	EPS8L2	11	726667	Silent	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09		726667	134279849	53	36255										
DENND5A	23258	genome.wustl.edu	37	chr11	9182287	9182287	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	acttgtagtccatgactccaGatcctttccaggagatcaca	7	12	1	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:9182287G>T	ENST00000328194.3	-	12	2729	c.2409C>A	c.(2407-2409)atC>atA	p.I803I	DENND5A_ENST00000530044.1_Silent_p.I803I|DENND5A_ENST00000527700.1_Silent_p.I146I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	803	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATGACTCCAGATCCTTTCCA	0.493																																																	0													175	135	148					11																	9182287		2201	4296	6497	SO:0001819	synonymous_variant	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2409C>A	11.37:g.9182287G>T			B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.I803	ENST00000328194.3	37	c.2409	CCDS31423.1	11																																																																																			DENND5A	-	pfam_Run,pfscan_Run		0.493	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	G	NM_015213		9182287	-1	no_errors	ENST00000328194	ensembl	human	known	70_37	silent	SNP	0.976	T	T	9182287	G	T	9182287	2	4	187	1	0	0	0	0	0	0	0	1	4446	932	33	3		3	DENND5A	11	9182287	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	8455620	9182287	125824229	54	36256										
TEAD1	7003	genome.wustl.edu	37	chr11	12923610	12923610	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	aaaagaaaggtggcttaaagGaactgtttggaaagggccct	13	5	0	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:12923610G>T	ENST00000526600.1	+	5	758	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	TEAD1_ENST00000527575.1_Intron|SCARNA16_ENST00000516520.1_RNA|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361905.4_Nonsense_Mutation_p.E260*|TEAD1_ENST00000361985.2_Nonsense_Mutation_p.E275*|TEAD1_ENST00000527636.1_Nonsense_Mutation_p.E275*			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	275	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGGCTTAAAGGAACTGTTTGG	0.423																																																	0													199	193	195					11																	12923610		2200	4294	6494	SO:0001587	stop_gained	7003			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.535G>T	11.37:g.12923610G>T	ENSP00000435393:p.Glu179*		A4FUP2|E7EV65	Nonsense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS	p.E260*	ENST00000526600.1	37	c.778		11	.	.	.	.	.	.	.	.	.	.	G	45	11.760938	0.99599	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000361985;ENST00000526600	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.8472	20.4745	0.99168	0.0:0.0:1.0:0.0	.	.	.	.	X	260;275;275;179	.	ENSP00000355332:E260X	E	+	1	0	TEAD1	12880186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GAA	TEAD1	-	pfam_TEA/ATTS,pirsf_TEF		0.423	TEAD1-007	PUTATIVE	basic	protein_coding	TEAD1	HGNC	protein_coding	OTTHUMT00000387220.1	G	NM_021961		12923610	1	no_errors	ENST00000361905	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	12923610	G	T	12923610	4	4	187	1	0	0	0	0	0	1	0	0	15768	1175	41	3	853	3	TEAD1	11	12923610	Nonsense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	3741323	12923610	122082906	55	36257										
CNTN5	53942	genome.wustl.edu	37	chr11	100126641	100126641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tttccctgggctggcaaacaGtaaagacaggtaagaggcac	12	9	0	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:100126641G>A	ENST00000524871.1	+	17	2445	c.2155G>A	c.(2155-2157)Gta>Ata	p.V719I	CNTN5_ENST00000528682.1_Missense_Mutation_p.V719I|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.V719I|CNTN5_ENST00000527185.1_Missense_Mutation_p.V719I|CNTN5_ENST00000418526.2_Missense_Mutation_p.V645I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	719	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTGGCAAACAGTAAAGACAGG	0.473																																																	0													79	85	83					11																	100126641		1962	4144	6106	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2155G>A	11.37:g.100126641G>A	ENSP00000435637:p.Val719Ile		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V719I	ENST00000524871.1	37	c.2155	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076330	0.76415	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	M	0.76433	2.335	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	T	0.76318	-0.3003	10	0.72032	D	0.01	.	18.0572	0.89366	0.0:0.0:1.0:0.0	.	645;719	O94779-2;O94779	.;CNTN5_HUMAN	I	719;719;719;645;719	ENSP00000433575:V719I;ENSP00000436185:V719I;ENSP00000435637:V719I;ENSP00000393229:V645I;ENSP00000279463:V719I	ENSP00000279463:V719I	V	+	1	0	CNTN5	99631851	1.000000	0.71417	0.882000	0.34594	0.527000	0.34593	9.476000	0.97823	2.513000	0.84729	0.561000	0.74099	GTA	CNTN5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	G	NM_014361		100126641	1	no_errors	ENST00000279463	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100126641	G	A	100126641	3	1	187	1	0	0	0	0	1	0	0	0	3649	1029	36	4	2213	4	CNTN5	11	100126641	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	87203031	100126641	34879875	56	36258										
SLC37A4	51399	genome.wustl.edu	37	chr11	118897365	118897365	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ctgcgatgctgcctacaaggCccccaacttccagggcactc	9	17	0	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr11:118897365C>A	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000330775.7_Missense_Mutation_p.G272V|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000545985.1_Missense_Mutation_p.G273V|SLC37A4_ENST00000357590.5_Missense_Mutation_p.G273V|SLC37A4_ENST00000538950.1_Missense_Mutation_p.G200V	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GCCTACAAGGCCCCCAACTTC	0.587																																																	0													48	49	49					11																	118897365		1960	4154	6114	SO:0001628	intergenic_variant	2542			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118897365C>A			A8K3A5|B4DME1	RNA	SNP	-	NULL	ENST00000533632.1	37	NULL	CCDS8407.1	11																																																																																			SLC37A4	-	-		0.587	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC37A4	HGNC	protein_coding	OTTHUMT00000389332.1	C	NM_016146		118897365	-1	no_errors	ENST00000330775	ensembl	human	known	70_37	rna	SNP	1.000	A	A	118897365	C	A	118897365	1	1	187	0	1	0	0	0	0	0	0	0	14630	739	26	4		4	SLC37A4	11	118897365	IGR	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	18770724	118897365	16109151	57	36259										
PRMT8	56341	genome.wustl.edu	37	chr12	3677981	3677981	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ctgttctatgagtccatgctCaacacggtgatctttgccag	9	11	3	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr12:3677981C>G	ENST00000382622.3	+	5	981	c.591C>G	c.(589-591)ctC>ctG	p.L197L	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.L188L	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	197	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AGTCCATGCTCAACACGGTGA	0.557																																																	0													302	222	249					12																	3677981		2203	4300	6503	SO:0001819	synonymous_variant	56341			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.591C>G	12.37:g.3677981C>G			B2RDP0|Q8TBJ8	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.L197	ENST00000382622.3	37	c.591	CCDS8521.2	12																																																																																			PRMT8	-	pfam_Arg_MeTrfase,pfam_Methyltransf_11		0.557	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	C	NM_019854		3677981	1	no_errors	ENST00000382622	ensembl	human	known	70_37	silent	SNP	1.000	G	G	3677981	C	G	3677981	2	3	187	1	0	0	0	0	0	0	0	1	12569	813	29	1		1	PRMT8	12	3677981	Silent	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09		3677981	130173914	58	36260										
GNPTAB	79158	genome.wustl.edu	37	chr12	102160054	102160054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ctccacctcctgcaatatagCgactccctccactgtttcct	4	18	0	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr12:102160054C>A	ENST00000299314.7	-	12	1689	c.1427G>T	c.(1426-1428)cGc>cTc	p.R476L	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	476	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TGCAATATAGCGACTCCCTCC	0.483																																																	0													113	103	107					12																	102160054		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1427G>T	12.37:g.102160054C>A	ENSP00000299314:p.Arg476Leu		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.R476L	ENST00000299314.7	37	c.1427	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942581	0.53079	.	.	ENSG00000111670	ENST00000299314	D	0.96554	-4.05	5.44	5.44	0.79542	.	0.055754	0.64402	D	0.000001	D	0.93936	0.8059	L	0.34521	1.04	0.80722	D	1	P	0.47350	0.894	B	0.42555	0.391	D	0.94555	0.7757	10	0.62326	D	0.03	-16.3495	17.8192	0.88645	0.0:1.0:0.0:0.0	.	476	Q3T906	GNPTA_HUMAN	L	476	ENSP00000299314:R476L	ENSP00000299314:R476L	R	-	2	0	GNPTAB	100684185	1.000000	0.71417	0.878000	0.34440	0.254000	0.26022	6.755000	0.74914	2.715000	0.92844	0.655000	0.94253	CGC	GNPTAB	-	NULL		0.483	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	C			102160054	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	1.000	A	A	102160054	C	A	102160054	3	1	187	1	0	0	0	0	1	0	0	0	6564	768	27	2	2383	2	GNPTAB	12	102160054	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	98482073	102160054	31691841	59	36261										
SACS	26278	genome.wustl.edu	37	chr13	23909371	23909371	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tgcaaagtggccattcacatGaaatggcagcccagtctcca	9	12	2	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr13:23909371G>A	ENST00000382292.3	-	9	8917	c.8644C>T	c.(8644-8646)Cat>Tat	p.H2882Y	SACS_ENST00000402364.1_Missense_Mutation_p.H2132Y|SACS_ENST00000382298.3_Missense_Mutation_p.H2882Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2882					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCATTCACATGAAATGGCAGC	0.468																																																	0													62	63	63					13																	23909371		2203	4298	6501	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8644C>T	13.37:g.23909371G>A	ENSP00000371729:p.His2882Tyr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.H2882Y	ENST00000382292.3	37	c.8644	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827310	0.90955	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93307	-2.81;-3.2;-2.81	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.69523	2.12	0.52099	D	0.999947	D	0.76494	0.999	D	0.75484	0.986	D	0.94453	0.7669	10	0.23302	T	0.38	.	19.1639	0.93546	0.0:0.0:1.0:0.0	.	2882	Q9NZJ4	SACS_HUMAN	Y	2882;2132;2882	ENSP00000371729:H2882Y;ENSP00000385844:H2132Y;ENSP00000371735:H2882Y	ENSP00000371729:H2882Y	H	-	1	0	SACS	22807371	1.000000	0.71417	0.972000	0.41901	0.952000	0.60782	9.476000	0.97823	2.525000	0.85131	0.555000	0.69702	CAT	SACS	-	NULL		0.468	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23909371	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23909371	G	A	23909371	3	1	187	1	0	0	0	0	1	0	0	0	13834	1290	45	1	5099	1	SACS	13	23909371	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		23909371	91260507	60	36262										
ESD	2098	genome.wustl.edu	37	chr13	47354125	47354125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	taaaggcttttttgccccagGgacagagtacagggttgcaa	12	8	0	1	rs369918622		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr13:47354125G>T	ENST00000378720.3	-	8	727	c.545C>A	c.(544-546)cCc>cAc	p.P182H	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Missense_Mutation_p.P153H	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	182					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TTTGCCCCAGGGACAGAGTAC	0.343																																																	0													102	102	102					13																	47354125		2203	4300	6503	SO:0001583	missense	2098			M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.545C>A	13.37:g.47354125G>T	ENSP00000367992:p.Pro182His		Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	pfam_Esterase_put,pfam_Peptidase_S9,pfam_AXE1,tigrfam_S-formylglutathione_hydrol	p.P182H	ENST00000378720.3	37	c.545	CCDS9404.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.267571|4.267571	0.80469|0.80469	.|.	.|.	ENSG00000139684|ENSG00000139684	ENST00000378720;ENST00000378697|ENST00000412582	T;T|T	0.33654|0.32753	1.4;1.4|1.44	6.16|6.16	4.36|4.36	0.52297|0.52297	.|.	0.419757|0.419757	0.27754|0.27754	N|N	0.017998|0.017998	T|T	0.60287|0.60287	0.2257|0.2257	H|H	0.96333|0.96333	3.805|3.805	0.41672|0.41672	D|D	0.98924|0.98924	P|.	0.52316|.	0.952|.	P|.	0.56343|.	0.796|.	T|T	0.64863|0.64863	-0.6307|-0.6307	10|8	0.87932|0.87932	D|D	0|0	-1.8049|-1.8049	5.8432|5.8432	0.18645|0.18645	0.0789:0.1359:0.6445:0.1406|0.0789:0.1359:0.6445:0.1406	.|.	182|.	P10768|.	ESTD_HUMAN|.	H|T	182;153|130	ENSP00000367992:P182H;ENSP00000367969:P153H|ENSP00000391350:P130T	ENSP00000367969:P153H|ENSP00000391350:P130T	P|P	-|-	2|1	0|0	ESD|ESD	46252126|46252126	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.995000|0.995000	0.86356|0.86356	4.550000|4.550000	0.60733|0.60733	0.859000|0.859000	0.35456|0.35456	0.650000|0.650000	0.86243|0.86243	CCC|CCT	ESD	-	pfam_Esterase_put,pfam_Peptidase_S9,tigrfam_S-formylglutathione_hydrol		0.343	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESD	HGNC	protein_coding	OTTHUMT00000044826.1	G			47354125	-1	no_errors	ENST00000378720	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47354125	G	T	47354125	3	4	187	1	0	0	0	0	1	0	0	0	5262	1232	43	4	315	4	ESD	13	47354125	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	23444754	47354125	67815753	61	36263										
TEP1	7011	genome.wustl.edu	37	chr14	20841187	20841187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cacctgtgctgtggccacagCcttagcttcctgccacaaga	9	15	0	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr14:20841187C>A	ENST00000262715.5	-	48	6974	c.6934G>T	c.(6934-6936)Gct>Tct	p.A2312S	TEP1_ENST00000556935.1_Missense_Mutation_p.A2204S|TEP1_ENST00000545983.1_Missense_Mutation_p.A650S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2312					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGGCCACAGCCTTAGCTTCC	0.517																																																	0													74	75	75					14																	20841187		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6934G>T	14.37:g.20841187C>A	ENSP00000262715:p.Ala2312Ser		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2312S	ENST00000262715.5	37	c.6934	CCDS9548.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.983047|3.983047	0.74474|0.74474	.|.	.|.	ENSG00000129566|ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983|ENST00000553984	T;T;T|.	0.56941|.	2.25;2.25;0.43|.	5.77|5.77	4.83|4.83	0.62350|0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.247838|.	0.39083|.	N|.	0.001463|.	T|T	0.55289|0.55289	0.1911|0.1911	M|M	0.61703|0.61703	1.905|1.905	0.30723|0.30723	N|N	0.748074|0.748074	D;D;D;D|.	0.69078|.	0.988;0.987;0.997;0.978|.	P;P;D;P|.	0.64042|.	0.76;0.856;0.921;0.721|.	T|T	0.56902|0.56902	-0.7902|-0.7902	10|5	0.38643|.	T|.	0.18|.	-8.4612|-8.4612	11.9588|11.9588	0.52997|0.52997	0.0:0.8257:0.1743:0.0|0.0:0.8257:0.1743:0.0	.|.	650;2204;1655;2312|.	B4E0B6;G3V5X7;G3V2A4;Q99973|.	.;.;.;TEP1_HUMAN|.	S|V	2312;2312;2204;650|18	ENSP00000262715:A2312S;ENSP00000452574:A2204S;ENSP00000438849:A650S|.	ENSP00000262715:A2312S|.	A|G	-|-	1|2	0|0	TEP1|TEP1	19911027|19911027	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.959000|0.959000	0.29240|0.29240	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GCT|GGC	TEP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20841187	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20841187	C	A	20841187	3	1	187	1	0	0	0	0	1	0	0	0	15789	739	26	4	981	4	TEP1	14	20841187	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09		20841187	86508353	62	36264										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102476247	102476247	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	agcccggacatggccatcttCatcaccatgaaccctggcta	8	15	3	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr14:102476247C>T	ENST00000360184.4	+	30	6209	c.6045C>T	c.(6043-6045)ttC>ttT	p.F2015F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2015	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGCCATCTTCATCACCATGA	0.527																																																	0													66	63	64					14																	102476247		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6045C>T	14.37:g.102476247C>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.F2015	ENST00000360184.4	37	c.6045	CCDS9966.1	14																																																																																			DYNC1H1	-	smart_AAA+_ATPase		0.527	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	C	NM_001376		102476247	1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	1.000	T	T	102476247	C	T	102476247	2	4	187	1	0	0	0	0	0	0	0	1	4851	825	29	1		1	DYNC1H1	14	102476247	Silent	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	81635060	102476247	4873293	63	36265										
DYNC1H1	1778	genome.wustl.edu	37	chr14	102476369	102476369	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cgcccaggtcatgctgtactCacagggtttccgcactgctg	11	14	2	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr14:102476369C>T	ENST00000360184.4	+	30	6331	c.6167C>T	c.(6166-6168)tCa>tTa	p.S2056L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2056	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGCTGTACTCACAGGGTTTC	0.488																																																	0													60	60	60					14																	102476369		2203	4299	6502	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6167C>T	14.37:g.102476369C>T	ENSP00000348965:p.Ser2056Leu		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.S2056L	ENST00000360184.4	37	c.6167	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.710837	0.96821	.	.	ENSG00000197102	ENST00000360184	T	0.36157	1.27	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83316	-0.0020	10	0.87932	D	0	.	20.1669	0.98153	0.0:1.0:0.0:0.0	.	2056	Q14204	DYHC1_HUMAN	L	2056	ENSP00000348965:S2056L	ENSP00000348965:S2056L	S	+	2	0	DYNC1H1	101546122	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.770000	0.85390	2.770000	0.95276	0.650000	0.86243	TCA	DYNC1H1	-	NULL		0.488	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	C	NM_001376		102476369	1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102476369	C	T	102476369	3	4	187	1	0	0	0	0	1	0	0	0	4851	838	29	1	6285	1	DYNC1H1	14	102476369	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	122	102476369	4873171	64	36266										
SCAPER	49855	genome.wustl.edu	37	chr15	76998298	76998298	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gcttcttgttgagcagctgtGagtgctgccaatcgttcttc	11	10	2	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr15:76998298G>T	ENST00000563290.1	-	18	2288	c.2193C>A	c.(2191-2193)ctC>ctA	p.L731L	SCAPER_ENST00000324767.7_Silent_p.L731L|SCAPER_ENST00000538941.2_Silent_p.L485L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	731	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GAGCAGCTGTGAGTGCTGCCA	0.323																																																	0													33	31	32					15																	76998298		1792	4060	5852	SO:0001819	synonymous_variant	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2193C>A	15.37:g.76998298G>T			F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	smart_Znf_U1	p.L731	ENST00000563290.1	37	c.2193	CCDS53962.1	15																																																																																			SCAPER	-	NULL		0.323	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	G	NM_020843		76998298	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	silent	SNP	0.588	T	T	76998298	G	T	76998298	2	4	187	1	0	0	0	0	0	0	0	1	13908	1277	45	3		3	SCAPER	15	76998298	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		76998298	25533094	65	36267										
ABCC12	94160	genome.wustl.edu	37	chr16	48139110	48139110	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	agtgtggtcttggtgaagacGaagcctttggtgacgccaaa	14	7	1	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:48139110G>A	ENST00000311303.3	-	19	2958	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Silent_p.F868F	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	871	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			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)				TGGTGAAGACGAAGCCTTTGG	0.537																																																	0													254	180	205					16																	48139110		2201	4300	6501	SO:0001819	synonymous_variant	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2613C>T	16.37:g.48139110G>A			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.F871	ENST00000311303.3	37	c.2613	CCDS10730.1	16																																																																																			ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.537	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	G	NM_033226		48139110	-1	no_errors	ENST00000311303	ensembl	human	known	70_37	silent	SNP	0.000	A	A	48139110	G	A	48139110	2	1	187	1	0	0	0	0	0	0	0	1	52	1049	37	1		1	ABCC12	16	48139110	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		48139110	42215643	66	36268										
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53670409	53670409	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	agtcatcactgtcagaagctGacatgtcctcttcaactgtt	7	11	5	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:53670409G>A	ENST00000379925.3	-	22	3286	c.3236C>T	c.(3235-3237)tCa>tTa	p.S1079L	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.S1045L|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.S1045L|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.S1079L|RPGRIP1L_ENST00000568009.1_5'UTR	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1079					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTCAGAAGCTGACATGTCCTC	0.348																																																	0													110	101	104					16																	53670409		2198	4300	6498	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3236C>T	16.37:g.53670409G>A	ENSP00000369257:p.Ser1079Leu		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S1079L	ENST00000379925.3	37	c.3236	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665925	0.47677	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.77750	-0.83;-1.12	5.42	4.45	0.53987	.	0.679378	0.13619	N	0.374545	T	0.61388	0.2343	N	0.08118	0	0.80722	D	1	B;B;B;B	0.12630	0.006;0.006;0.001;0.004	B;B;B;B	0.09377	0.003;0.003;0.003;0.004	T	0.59188	-0.7501	10	0.62326	D	0.03	-5.725	13.3849	0.60791	0.0768:0.0:0.9232:0.0	.	1079;1079;1079;1045	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	L	1079;1045	ENSP00000369257:S1079L;ENSP00000262135:S1045L	ENSP00000262135:S1045L	S	-	2	0	RPGRIP1L	52227910	0.050000	0.20438	1.000000	0.80357	0.729000	0.41735	1.698000	0.37794	2.716000	0.92895	0.650000	0.86243	TCA	RPGRIP1L	-	NULL		0.348	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	G	NM_015272		53670409	-1	no_errors	ENST00000379925	ensembl	human	known	70_37	missense	SNP	0.774	A	A	53670409	G	A	53670409	3	1	187	1	0	0	0	0	1	0	0	0	13580	1294	45	1	735	1	RPGRIP1L	16	53670409	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	5531299	53670409	36684344	67	36269										
SLC12A3	6559	genome.wustl.edu	37	chr16	56899245	56899245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gagcagtgatgagccctctcCaccagctgcctatgacagca	10	14	1	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:56899245C>A	ENST00000563236.1	+	1	123	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	SLC12A3_ENST00000438926.2_Missense_Mutation_p.P33Q|SLC12A3_ENST00000262502.5_Missense_Mutation_p.P33Q|SLC12A3_ENST00000566786.1_Missense_Mutation_p.P33Q			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	33					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GAGCCCTCTCCACCAGCTGCC	0.602																																																	0													124	100	108					16																	56899245		2198	4300	6498	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.98C>A	16.37:g.56899245C>A	ENSP00000456149:p.Pro33Gln		A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P33Q	ENST00000563236.1	37	c.98	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440408	0.12104	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D;D	0.84146	-1.81;-1.81	5.05	2.68	0.31781	.	0.332246	0.32593	N	0.005898	T	0.63510	0.2517	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.004	T	0.45071	-0.9286	10	0.16420	T	0.52	.	3.7185	0.08448	0.3657:0.4234:0.1238:0.0872	.	33;33;33	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Q	33	ENSP00000402152:P33Q;ENSP00000262502:P33Q	ENSP00000262502:P33Q	P	+	2	0	SLC12A3	55456746	0.763000	0.28462	0.007000	0.13788	0.301000	0.27625	2.403000	0.44530	1.090000	0.41315	0.655000	0.94253	CCA	SLC12A3	-	NULL		0.602	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	C			56899245	1	no_errors	ENST00000438926	ensembl	human	known	70_37	missense	SNP	0.000	A	A	56899245	C	A	56899245	3	1	187	1	0	0	0	0	1	0	0	0	14414	594	21	4	100	4	SLC12A3	16	56899245	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	3228836	56899245	33455508	68	36270										
NOB1	28987	genome.wustl.edu	37	chr16	69786243	69786243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	tccgtggcagagaggctgggGtagtctcctgttttctttga	14	8	2	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr16:69786243G>A	ENST00000268802.5	-	3	257	c.228C>T	c.(226-228)taC>taT	p.Y76Y		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	76	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGAGGCTGGGGTAGTCTCCTG	0.443																																																	0													118	110	113					16																	69786243		2198	4300	6498	SO:0001819	synonymous_variant	28987			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.228C>T	16.37:g.69786243G>A			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	pfam_NOB1_Zn-bd,smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease	p.Y76	ENST00000268802.5	37	c.228	CCDS10884.1	16																																																																																			NOB1	-	smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease		0.443	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	HGNC	protein_coding	OTTHUMT00000268958.2	G	NM_014062		69786243	-1	no_errors	ENST00000268802	ensembl	human	known	70_37	silent	SNP	0.930	A	A	69786243	G	A	69786243	2	1	187	1	0	0	0	0	0	0	0	1	10535	1256	44	4		4	NOB1	16	69786243	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	12886998	69786243	20568510	69	36271										
TMEM132E	124842	genome.wustl.edu	37	chr17	32964460	32964460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cccctgtgggcctgcgggtgCactttgggagggacgaggag	19	10	0	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr17:32964460C>A	ENST00000321639.5	+	10	2492	c.2164C>A	c.(2164-2166)Cac>Aac	p.H722N		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	722						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTGCGGGTGCACTTTGGGAG	0.687																																																	0													31	36	34					17																	32964460		2203	4300	6503	SO:0001583	missense	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2164C>A	17.37:g.32964460C>A	ENSP00000316532:p.His722Asn		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	NULL	p.H722N	ENST00000321639.5	37	c.2164	CCDS11283.1	17	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099675	0.56183	.	.	ENSG00000181291	ENST00000321639	T	0.15718	2.4	4.65	4.65	0.58169	.	0.203929	0.41823	D	0.000807	T	0.12390	0.0301	N	0.25647	0.755	0.25829	N	0.984191	B	0.24721	0.11	B	0.21546	0.035	T	0.13072	-1.0523	10	0.39692	T	0.17	-31.9963	11.5152	0.50518	0.1792:0.8208:0.0:0.0	.	722	Q6IEE7	T132E_HUMAN	N	722	ENSP00000316532:H722N	ENSP00000316532:H722N	H	+	1	0	TMEM132E	29988573	0.969000	0.33509	1.000000	0.80357	0.990000	0.78478	2.282000	0.43461	2.412000	0.81896	0.549000	0.68633	CAC	TMEM132E	-	NULL		0.687	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	C	NM_207313		32964460	1	no_errors	ENST00000321639	ensembl	human	known	70_37	missense	SNP	1.000	A	A	32964460	C	A	32964460	3	1	187	1	0	0	0	0	1	0	0	0	16078	710	25	4	2202	4	TMEM132E	17	32964460	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09		32964460	48230750	70	36272										
PSMB3	5691	genome.wustl.edu	37	chr17	36916830	36916830	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ctgcgccgaacaaatgtacgGaatgtgtgagtccctctggg	13	10	1	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr17:36916830G>T	ENST00000225426.4	+	4	534	c.443G>T	c.(442-444)gGa>gTa	p.G148V		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	148					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						CAAATGTACGGAATGTGTGAG	0.532																																																	0													78	65	69					17																	36916830		2203	4300	6503	SO:0001583	missense	5691			BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"Proteasome (prosome, macropain) subunits"	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.443G>T	17.37:g.36916830G>T	ENSP00000225426:p.Gly148Val		P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.G148V	ENST00000225426.4	37	c.443	CCDS11328.1	17	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558898	0.86231	.	.	ENSG00000108294	ENST00000225426	T	0.50548	0.74	3.87	3.87	0.44632	.	0.054865	0.64402	D	0.000001	T	0.75525	0.3861	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83414	0.0029	10	0.87932	D	0	.	14.8909	0.70609	0.0:0.0:1.0:0.0	.	148	P49720	PSB3_HUMAN	V	148	ENSP00000225426:G148V	ENSP00000225426:G148V	G	+	2	0	PSMB3	34170356	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.561000	0.98142	2.173000	0.68751	0.431000	0.28591	GGA	PSMB3	-	pfam_Proteasome_sua/b		0.532	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB3	HGNC	protein_coding	OTTHUMT00000256810.2	G	NM_002795		36916830	1	no_errors	ENST00000225426	ensembl	human	known	70_37	missense	SNP	1.000	T	T	36916830	G	T	36916830	3	4	187	1	0	0	0	0	1	0	0	0	12705	1174	41	3	457	3	PSMB3	17	36916830	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	3952370	36916830	44278380	71	36273										
MAP3K14	100133991	genome.wustl.edu	37	chr17	43348487	43348487	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gcagccgttgagcatgtgcaGcatcatacagcagctgctcc	11	13	1	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr17:43348487G>A	ENST00000586450.1	+	0	1886				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14_ENST00000344686.2_RNA					MAP3K14 antisense RNA 1																		AGCATGTGCAGCATCATACAG	0.637											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37	42	40					17																	43348487		2158	4261	6419			9020			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43348487G>A		915		RNA	SNP	-	NULL	ENST00000586450.1	37	NULL		17																																																																																			MAP3K14	-	-		0.637	MAP3K14-AS1-010	KNOWN	basic	antisense	MAP3K14	HGNC	antisense	OTTHUMT00000450942.1	G	NR_024434		43348487	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	1.000	A	A	43348487	G	A	43348487	1	1	187	0	1	0	0	0	0	0	0	0	9271	962	34	4		4	MAP3K14	17	43348487	RNA	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	6431657	43348487	37846723	72	36274										
NPC1	4864	genome.wustl.edu	37	chr18	21125040	21125040	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	actttcacgatttagttcatCttcaatacttcgttcagcag	5	10	5	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr18:21125040C>T	ENST00000269228.5	-	12	2385	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.D293N	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	611					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTTAGTTCATCTTCAATACTT	0.348																																																	0													110	100	104					18																	21125040		2203	4300	6503	SO:0001583	missense	4864			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1831G>A	18.37:g.21125040C>T	ENSP00000269228:p.Asp611Asn		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.D611N	ENST00000269228.5	37	c.1831	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	36	5.753095	0.96890	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.92699	-3.09;-3.09	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.979;0.995	D	0.97262	0.9905	10	0.87932	D	0	-25.1473	20.3928	0.98949	0.0:1.0:0.0:0.0	.	622;611	Q59GR1;O15118	.;NPC1_HUMAN	N	611;293;456	ENSP00000269228:D611N;ENSP00000408606:D293N	ENSP00000269228:D611N	D	-	1	0	NPC1	19379038	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.614000	0.82996	2.813000	0.96785	0.655000	0.94253	GAT	NPC1	-	pfam_Patched,tigrfam_NP_C_type		0.348	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	C	NM_000271		21125040	-1	no_errors	ENST00000269228	ensembl	human	known	70_37	missense	SNP	1.000	T	T	21125040	C	T	21125040	3	4	187	1	0	0	0	0	1	0	0	0	10594	913	32	1	2061	1	NPC1	18	21125040	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09		21125040	56952208	73	36275										
CCDC11	220136	genome.wustl.edu	37	chr18	47753821	47753821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gaggcagcacttgatgggtgGacaggacctcctggaccttg	15	10	0	1	rs371913662		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr18:47753821G>T	ENST00000398545.4	-	8	1592	c.1475C>A	c.(1474-1476)tCc>tAc	p.S492Y		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTGATGGGTGGACAGGACCTC	0.502																																																	0													191	199	196					18																	47753821		2047	4190	6237	SO:0001583	missense	220136																														ENST00000398545.4:c.1475C>A	18.37:g.47753821G>T	ENSP00000381553:p.Ser492Tyr			Missense_Mutation	SNP	NULL	p.S492Y	ENST00000398545.4	37	c.1475	CCDS11940.2	18	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493587	0.64186	.	.	ENSG00000172361	ENST00000398545	T	0.34275	1.37	5.39	1.32	0.21799	.	2.586540	0.01132	N	0.006015	T	0.31979	0.0814	L	0.27053	0.805	0.09310	N	1	P	0.42785	0.79	B	0.41723	0.365	T	0.34976	-0.9807	10	0.72032	D	0.01	7.1955	8.5951	0.33710	0.0876:0.51:0.4023:0.0	.	492	Q96M91	CCD11_HUMAN	Y	492	ENSP00000381553:S492Y	ENSP00000381553:S492Y	S	-	2	0	CCDC11	46007819	0.000000	0.05858	0.000000	0.03702	0.866000	0.49608	0.080000	0.14802	0.266000	0.21894	0.655000	0.94253	TCC	CCDC11	-	NULL		0.502	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	G			47753821	-1	no_errors	ENST00000398545	ensembl	human	known	70_37	missense	SNP	0.000	T	T	47753821	G	T	47753821	3	4	187	1	0	0	0	0	1	0	0	0	2751	1174	41	3	73	3	CCDC11	18	47753821	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	26628781	47753821	30323427	74	36276										
ZNF557	79230	genome.wustl.edu	37	chr19	7076482	7076482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	aaaggacactgtacagggacGtgatgctggagaactgcagg	15	7	0	2	rs561457120		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:7076482G>A	ENST00000439035.2	+	5	430	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	ZNF557_ENST00000414706.1_Missense_Mutation_p.V71M|ZNF557_ENST00000252840.6_Missense_Mutation_p.V71M			Q8N988	ZN557_HUMAN	zinc finger protein 557	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTACAGGGACGTGATGCTGGA	0.493																																																	0													142	130	134					19																	7076482		2203	4300	6503	SO:0001583	missense	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.190G>A	19.37:g.7076482G>A	ENSP00000398965:p.Val64Met		Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V71M	ENST00000439035.2	37	c.211	CCDS45945.1	19	.	.	.	.	.	.	.	.	.	.	.	13.95	2.389551	0.42410	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.04015	3.73;3.73;3.73	1.73	0.672	0.17935	Krueppel-associated box (4);	.	.	.	.	T	0.21347	0.0514	M	0.90309	3.105	0.22940	N	0.998535	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.985	T	0.03175	-1.1064	9	0.66056	D	0.02	.	6.1154	0.20124	0.1801:0.0:0.8199:0.0	.	64;71	Q8N988;Q8N988-2	ZN557_HUMAN;.	M	71;71;64	ENSP00000252840:V71M;ENSP00000404065:V71M;ENSP00000398965:V64M	ENSP00000252840:V71M	V	+	1	0	ZNF557	7027482	0.960000	0.32886	0.118000	0.21660	0.078000	0.17371	1.517000	0.35867	0.291000	0.22468	0.313000	0.20887	GTG	ZNF557	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.493	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF557	HGNC	protein_coding	OTTHUMT00000458502.1	G	NM_024341		7076482	1	no_errors	ENST00000252840	ensembl	human	known	70_37	missense	SNP	0.853	A	A	7076482	G	A	7076482	3	1	187	1	0	0	0	0	1	0	0	0	18018	1145	40	2	221	2	ZNF557	19	7076482	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		7076482	52052501	75	36277										
SLC27A1	376497	genome.wustl.edu	37	chr19	17611439	17611439	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gggcgacagcgcctacctctCaggtgcgcagcctgctaggc	14	15	1	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:17611439C>G	ENST00000252595.7	+	9	1566	c.1469C>G	c.(1468-1470)tCa>tGa	p.S490*	SLC27A1_ENST00000598424.1_Nonsense_Mutation_p.S311*|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Nonsense_Mutation_p.S490*|SLC27A1_ENST00000598848.1_3'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	490					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCTACCTCTCAGGTGCGCAG	0.652																																																	0													41	43	43					19																	17611439		2203	4300	6503	SO:0001587	stop_gained	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1469C>G	19.37:g.17611439C>G	ENSP00000252595:p.Ser490*		A6NIH2|B7Z662	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S490*	ENST00000252595.7	37	c.1469	CCDS32953.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.627497	0.96671	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	.	.	.	4.81	3.77	0.43336	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.5167	10.0628	0.42286	0.0:0.9005:0.0:0.0995	.	.	.	.	X	490	.	ENSP00000252595:S490X	S	+	2	0	SLC27A1	17472439	1.000000	0.71417	0.970000	0.41538	0.085000	0.17905	5.672000	0.68102	2.217000	0.71921	0.561000	0.74099	TCA	SLC27A1	-	pfam_AMP-dep_Synth/Lig		0.652	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	C	NM_198580		17611439	1	no_errors	ENST00000252595	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	17611439	C	G	17611439	4	3	187	1	0	0	0	0	0	1	0	0	14555	838	29	1	1503	1	SLC27A1	19	17611439	Nonsense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	10534957	17611439	41517544	76	36278										
LSM4	25804	genome.wustl.edu	37	chr19	18423461	18423461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gttaatgttcatccagttgtCgcagctcaccaggtgtccat	9	11	2	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:18423461C>T	ENST00000593829.1	-	3	350	c.97G>A	c.(97-99)Gac>Aac	p.D33N	LSM4_ENST00000252816.6_Missense_Mutation_p.D19N	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	33					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(3)	6						ATCCAGTTGTCGCAGCTCACC	0.587																																																	0													307	253	271					19																	18423461		2203	4300	6503	SO:0001583	missense	25804			AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.97G>A	19.37:g.18423461C>T	ENSP00000469468:p.Asp33Asn			Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.D33N	ENST00000593829.1	37	c.97	CCDS12374.1	19	.	.	.	.	.	.	.	.	.	.	c	31	5.104389	0.94245	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.74	4.74	0.60224	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.90473	0.7016	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94319	0.7552	9	0.87932	D	0	-0.1864	17.0837	0.86605	0.0:1.0:0.0:0.0	.	33	Q9Y4Z0	LSM4_HUMAN	N	33	.	ENSP00000252816:D33N	D	-	1	0	LSM4	18284461	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	6.897000	0.75671	2.366000	0.80165	0.306000	0.20318	GAC	LSM4	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc		0.587	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM4	HGNC	protein_coding	OTTHUMT00000466321.1	C			18423461	-1	no_errors	ENST00000593829	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18423461	C	T	18423461	3	4	187	1	0	0	0	0	1	0	0	0	9081	884	31	1	334	1	LSM4	19	18423461	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	812022	18423461	40705522	77	36279										
CD22	933	genome.wustl.edu	37	chr19	35837090	35837090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gagatgcagagacctcccccGgactgcgatgacacggtcac	12	14	1	3	rs530650512		TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:35837090G>A	ENST00000085219.5	+	13	2430	c.2364G>A	c.(2362-2364)ccG>ccA	p.P788P	CD22_ENST00000419549.2_Silent_p.P616P|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_Missense_Mutation_p.G749R|CD22_ENST00000270311.6_Silent_p.P603P|CD22_ENST00000594250.1_Silent_p.P611P|CD22_ENST00000536635.2_Silent_p.P700P|CD22_ENST00000341773.6_Silent_p.P611P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	788				PD -> RT (in Ref. 1; CAA42006). {ECO:0000305}.	cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACCTCCCCCGGACTGCGATG	0.587																																					Ovarian(42;1009 1133 23674 26041)												0													109	94	99					19																	35837090		2203	4300	6503	SO:0001819	synonymous_variant	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2364G>A	19.37:g.35837090G>A			F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G749R	ENST00000085219.5	37	c.2245	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628317	0.28978	.	.	ENSG00000012124	ENST00000544992	T	0.41065	1.01	3.67	2.65	0.31530	.	.	.	.	.	T	0.30634	0.0771	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	8	0.66056	D	0.02	.	5.3617	0.16091	0.7559:0.0:0.2441:0.0	.	749	F5GYU4	.	R	749	ENSP00000441237:G749R	ENSP00000441237:G749R	G	+	1	0	CD22	40528930	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.026000	0.13599	0.156000	0.19299	-0.817000	0.03123	GGA	CD22	-	NULL		0.587	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	G	NM_001771		35837090	1	no_errors	ENST00000544992	ensembl	human	novel	70_37	missense	SNP	0.000	A	A	35837090	G	A	35837090	2	1	187	1	0	0	0	0	0	0	0	1	2990	1117	39	2		2	CD22	19	35837090	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	17413629	35837090	23291893	78	36280										
SIPA1L3	23094	genome.wustl.edu	37	chr19	38572484	38572484	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ccgcccaagcgggaggccctGagagagcacagcaacccaag	13	15	0	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:38572484G>A	ENST00000222345.6	+	3	788	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	93					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGAGGCCCTGAGAGAGCACA	0.677																																																	0													47	54	52					19																	38572484		2202	4299	6501	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.279G>A	19.37:g.38572484G>A			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.L93	ENST00000222345.6	37	c.279	CCDS33007.1	19																																																																																			SIPA1L3	-	NULL		0.677	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38572484	1	no_errors	ENST00000222345	ensembl	human	known	70_37	silent	SNP	0.995	A	A	38572484	G	A	38572484	2	1	187	1	0	0	0	0	0	0	0	1	14361	1277	45	1		1	SIPA1L3	19	38572484	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	2735394	38572484	20556499	79	36281										
FCGBP	8857	genome.wustl.edu	37	chr19	40357710	40357710	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	catgtcaggccagagcttgaGgaacaggaacagcgctcgct	13	11	1	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:40357710G>T	ENST00000221347.6	-	34	15610	c.15603C>A	c.(15601-15603)tcC>tcA	p.S5201S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5201	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGAGCTTGAGGAACAGGAAC	0.597																																																	0													68	56	60					19																	40357710		2203	4300	6503	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15603C>A	19.37:g.40357710G>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.S5201	ENST00000221347.6	37	c.15603	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWC_out		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40357710	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.385	T	T	40357710	G	T	40357710	2	4	187	1	0	0	0	0	0	0	0	1	5796	987	35	4		4	FCGBP	19	40357710	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	1785226	40357710	18771273	80	36282										
LTBP4	8425	genome.wustl.edu	37	chr19	41117815	41117815	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	cctgcacctacggccggtgtGagaacacagaaggcagcttc	12	13	0	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:41117815G>C	ENST00000308370.7	+	17	2305	c.2305G>C	c.(2305-2307)Gag>Cag	p.E769Q	LTBP4_ENST00000204005.9_Missense_Mutation_p.E732Q|LTBP4_ENST00000243562.9_5'Flank|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.E222Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.E702Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	769	Cys-rich.|EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGCCGGTGTGAGAACACAGA	0.642																																																	0													33	40	38					19																	41117815		2068	4206	6274	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2305G>C	19.37:g.41117815G>C	ENSP00000311905:p.Glu769Gln		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E769Q	ENST00000308370.7	37	c.2305		19	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871237	0.72065	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	4.74	4.74	0.60224	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38605	N	0.001634	D	0.83995	0.5375	N	0.10664	0.02	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.991	D;D;D	0.79108	0.992;0.988;0.988	T	0.80216	-0.1474	10	0.13853	T	0.58	.	12.7064	0.57063	0.0:0.1666:0.8334:0.0	.	702;769;732	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	732;222;769;702	ENSP00000204005:E732Q;ENSP00000441054:E222Q;ENSP00000311905:E769Q;ENSP00000380031:E702Q	ENSP00000204005:E732Q	E	+	1	0	LTBP4	45809655	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.519000	0.53458	2.338000	0.79540	0.561000	0.74099	GAG	LTBP4	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.642	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41117815	1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41117815	G	C	41117815	3	2	187	1	0	0	0	0	1	0	0	0	9099	1291	45	1	2664	1	LTBP4	19	41117815	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	760105	41117815	18011168	81	36283										
CGB7	94027	genome.wustl.edu	37	chr19	49557662	49557662	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	aagcgggggtcatcacaggtCaaggggtggtccttgggacc	17	9	3	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:49557662C>A	ENST00000597853.1	-	5	3255	c.384G>T	c.(382-384)ttG>ttT	p.L128F	CGB7_ENST00000356213.4_Missense_Mutation_p.L126F|CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000596965.1_Missense_Mutation_p.L128F|CGB7_ENST00000377280.3_Missense_Mutation_p.L128F			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	128					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CATCACAGGTCAAGGGGTGGT	0.667																																																	0													7	7	7					19																	49557662		1424	2459	3883	SO:0001583	missense	94027			K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.384G>T	19.37:g.49557662C>A	ENSP00000470813:p.Leu128Phe		A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.L128F	ENST00000597853.1	37	c.384	CCDS33071.1	19	.	.	.	.	.	.	.	.	.	.	c	0.020	-1.439541	0.01098	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	D;D	0.90955	-2.76;-2.76	1.83	1.83	0.25207	Cystine knot (1);Gonadotropin, beta subunit, conserved site (1);	1.313780	0.05704	N	0.594705	D	0.87075	0.6087	.	.	.	0.22342	N	0.999189	B;D	0.60575	0.053;0.988	B;P	0.51895	0.058;0.683	T	0.76942	-0.2772	9	0.10111	T	0.7	-14.1353	7.1359	0.25527	0.0:1.0:0.0:0.0	.	126;158	F5H162;A6NKQ9	.;CGB1_HUMAN	F	128;126	ENSP00000366493:L128F;ENSP00000348545:L126F	ENSP00000348545:L126F	L	-	3	2	CGB7	54249474	0.002000	0.14202	0.462000	0.27118	0.152000	0.21847	0.724000	0.25954	1.318000	0.45170	0.197000	0.17608	TTG	CGB7	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.667	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CGB7	HGNC	protein_coding	OTTHUMT00000466254.1	C	NM_033142		49557662	-1	no_errors	ENST00000377280	ensembl	human	known	70_37	missense	SNP	0.731	A	A	49557662	C	A	49557662	3	1	187	1	0	0	0	0	1	0	0	0	3305	825	29	3	117	3	CGB7	19	49557662	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	8439847	49557662	9571321	82	36284										
LILRA1	11024	genome.wustl.edu	37	chr19	55107748	55107748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ctgtgtcagtcatgggggccGttccacactttccttctgac	10	13	3	1	rs139190966	byFrequency	TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr19:55107748G>A	ENST00000251372.3	+	7	1235	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	351	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CATGGGGGCCGTTCCACACTT	0.582																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	106	102	103		1053	-1.2	0	19	dbSNP_134	103	6,8594	5.7+/-21.5	0,6,4294	no	coding-synonymous	LILRA1	NM_006863.1		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		351/490	55107748	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1053G>A	19.37:g.55107748G>A			O75018|Q3MJA6	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.P351	ENST00000251372.3	37	c.1053	CCDS12901.1	19																																																																																			LILRA1	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	G	NM_006863		55107748	1	no_errors	ENST00000251372	ensembl	human	known	70_37	silent	SNP	0.000	A	A	55107748	G	A	55107748	2	1	187	1	0	0	0	0	0	0	0	1	8804	1132	40	2		2	LILRA1	19	55107748	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	5550086	55107748	4021235	83	36285										
PLCB1	23236	genome.wustl.edu	37	chr20	8628578	8628578	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ttaagctgcaagtcactccaGaagggcgtattcctctcaaa	8	11	2	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr20:8628578G>A	ENST00000338037.6	+	6	523	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	PLCB1_ENST00000378641.3_Missense_Mutation_p.E166K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E166K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	166					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGTCACTCCAGAAGGGCGTAT	0.333																																																	0													92	89	90					20																	8628578		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.496G>A	20.37:g.8628578G>A	ENSP00000338185:p.Glu166Lys		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E166K	ENST00000338037.6	37	c.496	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.207994	0.95033	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.41236	1.265	0.58432	D	0.999996	P;P;D;D	0.71674	0.81;0.883;0.996;0.998	B;B;P;D	0.78314	0.41;0.225;0.883;0.991	T	0.49862	-0.8894	10	0.36615	T	0.2	.	19.8517	0.96743	0.0:0.0:1.0:0.0	.	65;166;166;165	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	K	166;166;166;165;86;86	ENSP00000367908:E166K;ENSP00000338185:E166K;ENSP00000367904:E166K;ENSP00000384001:E165K	ENSP00000338185:E166K	E	+	1	0	PLCB1	8576578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.573000	0.90759	2.793000	0.96121	0.561000	0.74099	GAA	PLCB1	-	pirsf_PLC-beta		0.333	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8628578	1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	A	A	8628578	G	A	8628578	3	1	187	1	0	0	0	0	1	0	0	0	12051	943	33	1	518	1	PLCB1	20	8628578	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		8628578	54396942	84	36286										
PCIF1	63935	genome.wustl.edu	37	chr20	44569823	44569823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	gaagcttcggcagcactatcGggagctgtgccagcagcgag	15	11	0	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr20:44569823G>A	ENST00000372409.3	+	7	1014	c.650G>A	c.(649-651)cGg>cAg	p.R217Q		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	217					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.R217L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CAGCACTATCGGGAGCTGTGC	0.612																																																	1	Substitution - Missense(1)	lung(1)											42	41	41					20																	44569823		2203	4300	6503	SO:0001583	missense	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.650G>A	20.37:g.44569823G>A	ENSP00000361486:p.Arg217Gln		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R217Q	ENST00000372409.3	37	c.650	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986052	0.35036	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.056772	0.64402	D	0.000001	T	0.48995	0.1531	L	0.28694	0.88	0.51767	D	0.99993	B	0.19935	0.04	B	0.09377	0.004	T	0.43180	-0.9407	9	0.10902	T	0.67	-22.6522	17.4916	0.87705	0.0:0.0:1.0:0.0	.	217	Q9H4Z3	PCIF1_HUMAN	Q	217	.	ENSP00000361486:R217Q	R	+	2	0	PCIF1	44003230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.647000	0.67923	2.606000	0.88127	0.655000	0.94253	CGG	PCIF1	-	NULL		0.612	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	G	NM_022104		44569823	1	no_errors	ENST00000372409	ensembl	human	known	70_37	missense	SNP	1.000	A	A	44569823	G	A	44569823	3	1	187	1	0	0	0	0	1	0	0	0	11604	1116	39	2	668	2	PCIF1	20	44569823	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	35941245	44569823	18455697	85	36287										
ARFGEF2	10564	genome.wustl.edu	37	chr20	47570311	47570311	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ggagacgcacccagagaaagAggctcatcactgtcaggtac	12	11	3	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr20:47570311A>T	ENST00000371917.4	+	6	822	c.822A>T	c.(820-822)agA>agT	p.R274S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	274					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCAGAGAAAGAGGCTCATCAC	0.468																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													72	71	72					20																	47570311		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.822A>T	20.37:g.47570311A>T	ENSP00000360985:p.Arg274Ser		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.R274S	ENST00000371917.4	37	c.822	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	A	5.758	0.324348	0.10900	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.20738	2.05	5.76	-2.24	0.06909	Armadillo-type fold (1);	0.494459	0.22843	N	0.054951	T	0.07413	0.0187	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	10	0.08837	T	0.75	.	5.6956	0.17853	0.4692:0.2442:0.2866:0.0	.	274	Q9Y6D5	BIG2_HUMAN	S	274	ENSP00000360985:R274S	ENSP00000360985:R274S	R	+	3	2	ARFGEF2	47003718	0.581000	0.26741	0.002000	0.10522	0.172000	0.22775	0.970000	0.29383	-0.333000	0.08476	0.533000	0.62120	AGA	ARFGEF2	-	superfamily_ARM-type_fold		0.468	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	A	NM_006420		47570311	1	no_errors	ENST00000371917	ensembl	human	known	70_37	missense	SNP	0.001	T	T	47570311	A	T	47570311	3	4	187	1	0	0	0	0	1	0	0	0	853	301	11	5	844	5	ARFGEF2	20	47570311	Missense_Mutation	SNP	A	TCGA-Q1-A73Q-01A-21D-A32I-09	3000488	47570311	15455209	86	36288										
TFAP2C	7022	genome.wustl.edu	37	chr20	55212976	55212976	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	aactacatcaaagaagccctGattgtcatagacaaatccta	5	10	2	3			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chr20:55212976G>A	ENST00000201031.2	+	7	1503	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	TFAP2C_ENST00000544508.1_Silent_p.L251L	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	420	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AAGAAGCCCTGATTGTCATAG	0.478																																																	0													83	78	79					20																	55212976		2203	4300	6503	SO:0001819	synonymous_variant	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1260G>A	20.37:g.55212976G>A			B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma	p.L420	ENST00000201031.2	37	c.1260	CCDS13454.1	20																																																																																			TFAP2C	-	pfam_TF_AP2_C		0.478	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2C	HGNC	protein_coding	OTTHUMT00000079823.2	G	NM_003222		55212976	1	no_errors	ENST00000201031	ensembl	human	known	70_37	silent	SNP	0.980	A	A	55212976	G	A	55212976	2	1	187	1	0	0	0	0	0	0	0	1	15819	1277	45	1		1	TFAP2C	20	55212976	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	7642665	55212976	7812544	87	36289										
TLR8	51311	genome.wustl.edu	37	chrX	12939924	12939924	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ttgtctagaggagagggattGggatccgggattggccatca	16	6	2	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:12939924G>C	ENST00000218032.6	+	2	2852	c.2765G>C	c.(2764-2766)tGg>tCg	p.W922S	TLR8_ENST00000311912.5_Missense_Mutation_p.W940S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	922	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GAGAGGGATTGGGATCCGGGA	0.443																																																	0													79	82	81					X																	12939924		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2765G>C	X.37:g.12939924G>C	ENSP00000218032:p.Trp922Ser		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.W922S	ENST00000218032.6	37	c.2765	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003904	0.74932	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.02345	4.33;4.33	5.97	5.97	0.96955	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.38326	N	0.001729	T	0.18551	0.0445	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00064	-1.2150	10	0.87932	D	0	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	922;940	Q9NR97;D1CS70	TLR8_HUMAN;.	S	922;940	ENSP00000218032:W922S;ENSP00000312082:W940S	ENSP00000218032:W922S	W	+	2	0	TLR8	12849845	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	9.808000	0.99193	2.532000	0.85374	0.600000	0.82982	TGG	TLR8	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.443	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	G	NM_016610		12939924	1	no_errors	ENST00000218032	ensembl	human	known	70_37	missense	SNP	1.000	C	C	12939924	G	C	12939924	3	2	187	1	0	0	0	0	1	0	0	0	15987	1357	47	4	2771	4	TLR8	23	12939924	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09		12939924	142330636	88	36290										
DMD	1756	genome.wustl.edu	37	chrX	32632545	32632545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ctctttcagtttctgattctGgagatccattaaaactctat	5	9	5	2			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:32632545G>T	ENST00000357033.4	-	12	1563	c.1357C>A	c.(1357-1359)Cag>Aag	p.Q453K	DMD_ENST00000288447.4_Missense_Mutation_p.Q445K|DMD_ENST00000378677.2_Missense_Mutation_p.Q449K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	453					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTGATTCTGGAGATCCATT	0.348																																																	0													152	124	133					X																	32632545		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1357C>A	X.37:g.32632545G>T	ENSP00000354923:p.Gln453Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q453K	ENST00000357033.4	37	c.1357	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486820	0.84854	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.50277	0.75;0.75;0.75	5.62	5.62	0.85841	.	0.000000	0.33572	U	0.004771	T	0.72028	0.3410	M	0.82716	2.605	0.80722	D	1	D;P;D;D	0.69078	0.997;0.954;0.996;0.963	D;D;D;D	0.81914	0.987;0.954;0.995;0.973	T	0.75648	-0.3245	10	0.62326	D	0.03	.	17.5124	0.87764	0.0:0.0:1.0:0.0	.	445;445;453;449	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	445;449;453;453;330;445	ENSP00000367948:Q449K;ENSP00000354923:Q453K;ENSP00000288447:Q445K	ENSP00000288447:Q445K	Q	-	1	0	DMD	32542466	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.782000	0.85680	2.493000	0.84123	0.594000	0.82650	CAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32632545	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32632545	G	T	32632545	3	4	187	1	0	0	0	0	1	0	0	0	4590	1357	47	4	10215	4	DMD	23	32632545	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	19692621	32632545	122638015	89	36291										
APEX2	27301	genome.wustl.edu	37	chrX	55028832	55028832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	ctccgggctctggatagtgaGggcagggccctcctcacaca	13	14	2	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:55028832G>T	ENST00000374987.3	+	3	456	c.390G>T	c.(388-390)gaG>gaT	p.E130D	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	130					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGATAGTGAGGGCAGGGCCC	0.517								Other BER factors																																									0													98	86	90					X																	55028832		2203	4300	6503	SO:0001583	missense	27301			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 2"	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.390G>T	X.37:g.55028832G>T	ENSP00000364126:p.Glu130Asp		Q9Y5X7	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.E130D	ENST00000374987.3	37	c.390	CCDS14365.1	X	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052246	0.75960	.	.	ENSG00000169188	ENST00000374987	T	0.66815	-0.23	5.65	1.3	0.21679	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	M	0.91510	3.215	0.48762	D	0.999707	D	0.69078	0.997	D	0.72625	0.978	T	0.82358	-0.0497	10	0.87932	D	0	-26.099	9.6297	0.39772	0.3868:0.0:0.6132:0.0	.	130	Q9UBZ4	APEX2_HUMAN	D	130	ENSP00000364126:E130D	ENSP00000364126:E130D	E	+	3	2	APEX2	55045557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.893000	0.28336	0.253000	0.21552	0.597000	0.82753	GAG	APEX2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III		0.517	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	HGNC	protein_coding	OTTHUMT00000056845.1	G			55028832	1	no_errors	ENST00000374987	ensembl	human	known	70_37	missense	SNP	0.998	T	T	55028832	G	T	55028832	3	4	187	1	0	0	0	0	1	0	0	0	770	991	35	4	400	4	APEX2	23	55028832	Missense_Mutation	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	22396287	55028832	100241728	90	36292										
RPS6KA6	27330	genome.wustl.edu	37	chrX	83357098	83357098	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	agttaagagaagtccattttCtcctcgaagttgttttgcaa	8	7	1	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:83357098C>T	ENST00000262752.2	-	18	1730	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E575K|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	575	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTCCATTTTCTCCTCGAAGT	0.368																																																	0													130	112	118					X																	83357098		2203	4299	6502	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1723G>A	X.37:g.83357098C>T	ENSP00000262752:p.Glu575Lys		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.E575K	ENST00000262752.2	37	c.1723	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048233	0.75846	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.64991	-0.13;-0.13	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.176849	0.52532	D	0.000077	T	0.52273	0.1724	N	0.21240	0.645	0.58432	D	0.999999	B;B	0.13145	0.007;0.007	B;B	0.17722	0.012;0.019	T	0.51284	-0.8725	10	0.66056	D	0.02	.	17.9644	0.89096	0.0:1.0:0.0:0.0	.	575;575	B7ZL90;Q9UK32	.;KS6A6_HUMAN	K	575	ENSP00000262752:E575K;ENSP00000440830:E575K	ENSP00000262752:E575K	E	-	1	0	RPS6KA6	83243754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.597000	0.82733	2.263000	0.75096	0.523000	0.50628	GAA	RPS6KA6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.368	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	C	NM_014496		83357098	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83357098	C	T	83357098	3	4	187	1	0	0	0	0	1	0	0	0	13685	922	32	1	534	1	RPS6KA6	23	83357098	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	28328266	83357098	71913462	91	36293										
RPS6KA6	27330	genome.wustl.edu	37	chrX	83362646	83362646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	attacctttaggtgtttttgCagtaaattcaggatcaaaac	7	6	2	0			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:83362646C>T	ENST00000262752.2	-	13	1103	c.1096G>A	c.(1096-1098)Gca>Aca	p.A366T	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A366T|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	366	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GGTGTTTTTGCAGTAAATTCA	0.284																																																	0													51	48	49					X																	83362646		2202	4294	6496	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1096G>A	X.37:g.83362646C>T	ENSP00000262752:p.Ala366Thr		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.A366T	ENST00000262752.2	37	c.1096	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515080	0.44763	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.57752	0.38;0.38	4.26	4.26	0.50523	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.057678	0.64402	D	0.000002	T	0.41328	0.1154	N	0.20807	0.61	0.80722	D	1	B;B	0.18741	0.011;0.03	B;B	0.25759	0.021;0.063	T	0.32693	-0.9897	10	0.45353	T	0.12	.	16.2519	0.82491	0.0:1.0:0.0:0.0	.	366;366	B7ZL90;Q9UK32	.;KS6A6_HUMAN	T	366	ENSP00000262752:A366T;ENSP00000440830:A366T	ENSP00000262752:A366T	A	-	1	0	RPS6KA6	83249302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.447000	0.52936	1.829000	0.53265	0.600000	0.82982	GCA	RPS6KA6	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II		0.284	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	C	NM_014496		83362646	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83362646	C	T	83362646	3	4	187	1	0	0	0	0	1	0	0	0	13685	710	25	4	1181	4	RPS6KA6	23	83362646	Missense_Mutation	SNP	C	TCGA-Q1-A73Q-01A-21D-A32I-09	5548	83362646	71907914	92	36294										
THOC2	57187	genome.wustl.edu	37	chrX	122761592	122761592	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.268817204301075	25	1.73603833971868e-08	3.46572086994095	6.01145038167939	2.79898218829517	0.127141894331519	0.316224711542496	18	atctggactttaagtttattGacttctcgttcatagctggt	8	7	3	1			TCGA-Q1-A73Q-01A-21D-A32I-09	TCGA-Q1-A73Q-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f903a679-b170-4fea-8590-4c4123c022b7	19807cb3-c66b-40c3-9f44-e9d268c8d4bd	g.chrX:122761592G>A	ENST00000245838.8	-	23	2740	c.2709C>T	c.(2707-2709)gtC>gtT	p.V903V	THOC2_ENST00000491737.1_Silent_p.V788V|THOC2_ENST00000355725.4_Silent_p.V903V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	903					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TAAGTTTATTGACTTCTCGTT	0.383																																																	0													176	147	157					X																	122761592		1918	4131	6049	SO:0001819	synonymous_variant	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2709C>T	X.37:g.122761592G>A			A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.V903	ENST00000245838.8	37	c.2709	CCDS43988.1	X																																																																																			THOC2	-	pfam_THO_THOC2_C		0.383	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	G			122761592	-1	no_errors	ENST00000245838	ensembl	human	known	70_37	silent	SNP	1.000	A	A	122761592	G	A	122761592	2	1	187	1	0	0	0	0	0	0	0	1	15895	1277	45	1		1	THOC2	23	122761592	Silent	SNP	G	TCGA-Q1-A73Q-01A-21D-A32I-09	39398946	122761592	32508968	93	36295										
TP73	7161	genome.wustl.edu	37	chr1	3639972	3639973	+	Frame_Shift_Ins	INS	-	-	GTAT													0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gaaggcaataatctctcgcaINSgtatgtggatgaccctgtca							TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:3639972_3639973insGTAT	ENST00000378295.4	+	6	826_827	c.671_672insGTAT	c.(670-675)cagtatfs	p.-226fs	TP73_ENST00000378280.1_Frame_Shift_Ins_p.-177fs|TP73_ENST00000604074.1_Frame_Shift_Ins_p.-226fs|TP73_ENST00000354437.4_Frame_Shift_Ins_p.-226fs|TP73_ENST00000604479.1_Frame_Shift_Ins_p.-226fs|TP73_ENST00000378288.4_Frame_Shift_Ins_p.-177fs|TP73_ENST00000357733.3_Frame_Shift_Ins_p.-226fs|TP73_ENST00000378285.1_Frame_Shift_Ins_p.-177fs|TP73_ENST00000603362.1_Frame_Shift_Ins_p.-226fs|TP73_ENST00000346387.4_Frame_Shift_Ins_p.-226fs|TP73_ENST00000378290.4_Frame_Shift_Ins_p.-155fs	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73						activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AATCTCTCGCAGTATGTGGATG	0.629																																																	0																																										SO:0001589	frameshift_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.672_675dupGTAT	1.37:g.3639973_3639976dupGTAT	ENSP00000367545:p.Val226fs		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.D227fs	ENST00000378295.4	37	c.671_672	CCDS49.1	1																																																																																			TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.629	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	-	NM_005427		3639973	1	no_errors	ENST00000378295	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GTAT	GTAT	3639973	-	GTAT	3639972	7	5	188	1	0	1	1	0	0	0	0	0	16424	188	7	0	732	0	TP73	1	3639972	Frame_Shift_Ins	INS	-	TCGA-Q1-A73R-01A-11D-A33O-09		3639972	245610649	1	36296										
CLCN6	1185	genome.wustl.edu	37	chr1	11866380	11866380	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ggtgctgctgctgcggtgagCgtgagacccgcacccccgag	16	14	0	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:11866380C>A	ENST00000346436.6	+	1	113	c.61C>A	c.(61-63)Cgt>Agt	p.R21S	CLCN6_ENST00000376497.3_Missense_Mutation_p.R21S|CLCN6_ENST00000312413.6_Missense_Mutation_p.R21S|CLCN6_ENST00000376492.3_3'UTR|MTHFR_ENST00000376585.1_5'Flank|CLCN6_ENST00000376496.3_Missense_Mutation_p.R21S|MTHFR_ENST00000376583.3_5'Flank|CLCN6_ENST00000376487.3_Missense_Mutation_p.R21S|MTHFR_ENST00000376590.3_5'Flank	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	21					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGGTGAGCGTGAGACCCG	0.677																																																	0													26	19	21					1																	11866380		2196	4290	6486	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.61C>A	1.37:g.11866380C>A	ENSP00000234488:p.Arg21Ser		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.R21S	ENST00000346436.6	37	c.61	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557458	0.65425	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;T;D;D	0.92299	-3.01;-2.81;-1.11;-2.87;-2.85	4.44	4.44	0.53790	.	0.111984	0.64402	D	0.000008	D	0.87928	0.6301	L	0.36672	1.1	0.41435	D	0.98788	B;B;B;B;P;B	0.47841	0.097;0.15;0.239;0.239;0.901;0.058	B;B;B;B;B;B	0.42798	0.015;0.072;0.099;0.099;0.398;0.033	D	0.86809	0.1997	10	0.29301	T	0.29	-7.5842	14.254	0.66038	0.0:1.0:0.0:0.0	.	21;21;21;21;21;21	F8W9R3;P51797-3;P51797-4;P51797-2;P51797-5;P51797	.;.;.;.;.;CLCN6_HUMAN	S	21	ENSP00000308367:R21S;ENSP00000234488:R21S;ENSP00000365680:R21S;ENSP00000365670:R21S;ENSP00000365679:R21S	ENSP00000308367:R21S	R	+	1	0	CLCN6	11788967	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.861000	0.39438	2.471000	0.83476	0.549000	0.68633	CGT	CLCN6	-	NULL		0.677	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	C	NM_001286		11866380	1	no_errors	ENST00000346436	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11866380	C	A	11866380	3	1	188	1	0	0	0	0	1	0	0	0	3472	768	27	2	63	2	CLCN6	1	11866380	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	8226408	11866380	237384241	2	36297										
C1orf172	126695	genome.wustl.edu	37	chr1	27278790	27278790	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	aggtggtttatcatatgtctCcagacatagctctgttggcc	10	9	3	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:27278790C>A	ENST00000320567.5	-	2	170	c.82G>T	c.(82-84)Gag>Tag	p.E28*		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		28	Pro-rich.				developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCATATGTCTCCAGACATAGC	0.622																																																	0													30	33	32					1																	27278790		2193	4276	6469	SO:0001587	stop_gained	126695																														ENST00000320567.5:c.82G>T	1.37:g.27278790C>A	ENSP00000319179:p.Glu28*		Q5QP32|Q8N0S7	Nonsense_Mutation	SNP	NULL	p.E28*	ENST00000320567.5	37	c.82	CCDS293.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025904	0.75390	.	.	ENSG00000175707	ENST00000320567;ENST00000374109	.	.	.	4.79	4.79	0.61399	.	0.234470	0.38897	N	0.001524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.1399	0.72601	0.0:1.0:0.0:0.0	.	.	.	.	X	28	.	ENSP00000319179:E28X	E	-	1	0	C1orf172	27151377	0.988000	0.35896	0.999000	0.59377	0.768000	0.43524	1.932000	0.40143	2.485000	0.83878	0.650000	0.86243	GAG	C1orf172	-	NULL		0.622	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf172	HGNC	protein_coding	OTTHUMT00000012340.1	C			27278790	-1	no_errors	ENST00000320567	ensembl	human	known	70_37	nonsense	SNP	0.998	A	A	27278790	C	A	27278790	4	1	188	1	0	0	0	0	0	1	0	0	2018	864	30	3	1126	3	C1orf172	1	27278790	Nonsense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	15412410	27278790	221971831	3	36298										
C1orf216	127703	genome.wustl.edu	37	chr1	36181649	36181649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	catcttctcaggctcagcccCgggaatctctgccccctctg	8	18	5	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:36181649C>A	ENST00000270815.4	-	2	1044	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	92										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGCTCAGCCCCGGGAATCTCT	0.637											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45	48	47					1																	36181649		2203	4300	6503	SO:0001583	missense	127703			AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.274G>T	1.37:g.36181649C>A	ENSP00000425166:p.Gly92Trp	861	D3DPS1|Q8N8N6	Missense_Mutation	SNP	NULL	p.G92W	ENST00000270815.4	37	c.274	CCDS395.1	1	.	.	.	.	.	.	.	.	.	.	c	15.45	2.836934	0.50951	.	.	ENSG00000142686	ENST00000270815	.	.	.	5.32	-6.76	0.01732	.	0.619716	0.15601	N	0.253907	T	0.39572	0.1083	N	0.22421	0.69	0.09310	N	0.999997	D	0.60575	0.988	P	0.57324	0.818	T	0.52624	-0.8551	9	0.66056	D	0.02	-2.5917	16.3535	0.83227	0.0:0.3302:0.0:0.6698	.	92	Q8TAB5	CA216_HUMAN	W	92	.	ENSP00000425166:G92W	G	-	1	0	C1orf216	35954236	0.000000	0.05858	0.022000	0.16811	0.842000	0.47809	-0.645000	0.05409	-1.306000	0.02324	-0.215000	0.12644	GGG	C1orf216	-	NULL		0.637	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf216	HGNC	protein_coding	OTTHUMT00000012013.3	C	NM_152374		36181649	-1	no_errors	ENST00000270815	ensembl	human	known	70_37	missense	SNP	0.003	A	A	36181649	C	A	36181649	3	1	188	1	0	0	0	0	1	0	0	0	2036	652	23	2	419	2	C1orf216	1	36181649	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	8902859	36181649	213068972	4	36299										
WDR65	149465	genome.wustl.edu	37	chr1	43647253	43647253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	cttgtccatcagtcccaatcGgcggtacctcgctatctctg	8	15	2	0	rs201770048		TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:43647253G>T	ENST00000372492.4	+	3	530	c.206G>T	c.(205-207)cGg>cTg	p.R69L	WDR65_ENST00000528956.1_Missense_Mutation_p.R69L	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		69										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTCCCAATCGGCGGTACCTC	0.468																																																	0													90	80	84					1																	43647253		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.206G>T	1.37:g.43647253G>T	ENSP00000361570:p.Arg69Leu		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R69L	ENST00000372492.4	37	c.206		1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686323	0.88639	.	.	ENSG00000243710	ENST00000372492;ENST00000528956;ENST00000529956	T;T;T	0.41065	5.02;1.01;5.02	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.061015	0.64402	D	0.000004	T	0.70168	0.3193	M	0.87269	2.87	0.51482	D	0.99992	D;D	0.89917	0.993;1.0	D;D	0.81914	0.937;0.995	T	0.70464	-0.4864	10	0.37606	T	0.19	.	19.3319	0.94293	0.0:0.0:1.0:0.0	.	69;69	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	L	69	ENSP00000361570:R69L;ENSP00000435310:R69L;ENSP00000434133:R69L	ENSP00000361570:R69L	R	+	2	0	WDR65	43419840	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.665000	0.74442	2.672000	0.90937	0.460000	0.39030	CGG	WDR65	-	superfamily_WD40_repeat_dom		0.468	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	G			43647253	1	no_errors	ENST00000528956	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43647253	G	T	43647253	3	4	188	1	0	0	0	0	1	0	0	0	17347	1116	39	2	212	2	WDR65	1	43647253	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	7465604	43647253	205603368	5	36300										
MSH4	4438	genome.wustl.edu	37	chr1	76276488	76276488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	cactctgatcacagaaaattTcaaggtaagtgatgtttact	7	7	3	3			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:76276488T>C	ENST00000263187.3	+	4	799	c.695T>C	c.(694-696)tTc>tCc	p.F232S		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	232					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ACAGAAAATTTCAAGGTAAGT	0.274								Mismatch excision repair (MMR)																																									0													72	71	72					1																	76276488		2203	4299	6502	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.695T>C	1.37:g.76276488T>C	ENSP00000263187:p.Phe232Ser		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.F232S	ENST00000263187.3	37	c.695	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109648	0.77096	.	.	ENSG00000057468	ENST00000263187	D	0.86769	-2.17	4.64	4.64	0.57946	DNA mismatch repair protein MutS, connector (2);	0.099038	0.64402	D	0.000001	D	0.92182	0.7521	M	0.85041	2.73	0.54753	D	0.999989	D	0.63880	0.993	D	0.70935	0.971	D	0.92233	0.5794	10	0.44086	T	0.13	-14.4307	14.7795	0.69754	0.0:0.0:0.0:1.0	.	232	O15457	MSH4_HUMAN	S	232	ENSP00000263187:F232S	ENSP00000263187:F232S	F	+	2	0	MSH4	76049076	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.154000	0.77437	2.024000	0.59613	0.383000	0.25322	TTC	MSH4	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt		0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	T	NM_002440		76276488	1	no_errors	ENST00000263187	ensembl	human	known	70_37	missense	SNP	1.000	C	C	76276488	T	C	76276488	3	2	188	1	0	0	0	0	1	0	0	0	9895	1783	62	5	709	5	MSH4	1	76276488	Missense_Mutation	SNP	T	TCGA-Q1-A73R-01A-11D-A33O-09	32629235	76276488	172974133	6	36301										
C1orf103	55791	genome.wustl.edu	37	chr1	111494244	111494244	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	attttgtctccatctgggaaGatttacttttagccaaaaca	6	8	2	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:111494244G>T	ENST00000369763.4	-	2	1652	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATCTGGGAAGATTTACTTTT	0.408																																																	0													169	174	173					1																	111494244		2203	4300	6503	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1262C>A	1.37:g.111494244G>T	ENSP00000358778:p.Ser421Tyr		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.S421Y	ENST00000369763.4	37	c.1262	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137079	0.56936	.	.	ENSG00000121931	ENST00000369763	T	0.35789	1.29	5.83	5.83	0.93111	.	0.446550	0.23245	N	0.050317	T	0.46658	0.1404	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	T	0.37150	-0.9718	10	0.62326	D	0.03	-8.08	17.6072	0.88041	0.0:0.0:1.0:0.0	.	421	Q5T3J3	LRIF1_HUMAN	Y	421	ENSP00000358778:S421Y	ENSP00000358778:S421Y	S	-	2	0	LRIF1	111295767	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.364000	0.52328	2.762000	0.94881	0.591000	0.81541	TCT	LRIF1	-	NULL		0.408	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	G	NM_018372		111494244	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	missense	SNP	1.000	T	T	111494244	G	T	111494244	3	4	188	1	0	0	0	0	1	0	0	0	1982	942	33	3	1059	3	C1orf103	1	111494244	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	35217756	111494244	137756377	7	36302										
TCHHL1	126637	genome.wustl.edu	37	chr1	152058923	152058923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tttccaggactagtggccgaGtttttctgtcacgttctttc	9	10	3	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:152058923G>A	ENST00000368806.1	-	3	1299	c.1235C>T	c.(1234-1236)aCt>aTt	p.T412I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	412							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TAGTGGCCGAGTTTTTCTGTC	0.448																																																	0													134	131	132					1																	152058923		2203	4300	6503	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1235C>T	1.37:g.152058923G>A	ENSP00000357796:p.Thr412Ile		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.T412I	ENST00000368806.1	37	c.1235	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	11.56	1.675184	0.29783	.	.	ENSG00000182898	ENST00000368806	T	0.26518	1.73	5.59	-2.6	0.06190	.	0.782790	0.10843	N	0.628045	T	0.03390	0.0098	N	0.16656	0.425	0.09310	N	1	B	0.21821	0.061	B	0.15870	0.014	T	0.39057	-0.9632	10	0.39692	T	0.17	0.0124	1.3378	0.02148	0.1839:0.1273:0.2381:0.4507	.	412	Q5QJ38	TCHL1_HUMAN	I	412	ENSP00000357796:T412I	ENSP00000357796:T412I	T	-	2	0	TCHHL1	150325547	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-0.271000	0.08572	-0.245000	0.09625	-0.188000	0.12872	ACT	TCHHL1	-	NULL		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	G	XM_060104		152058923	-1	no_errors	ENST00000368806	ensembl	human	known	70_37	missense	SNP	0.000	A	A	152058923	G	A	152058923	3	1	188	1	0	0	0	0	1	0	0	0	15731	1029	36	4	1483	4	TCHHL1	1	152058923	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	40564679	152058923	97191698	8	36303										
SPRR2D	6703	genome.wustl.edu	37	chr1	153012728	153012728	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gtgatgggcagggctcagggCacttcgggggtggacatggc	20	8	1	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:153012728C>G	ENST00000368757.1	-	2	375	c.95G>C	c.(94-96)tGc>tCc	p.C32S	SPRR2D_ENST00000360379.3_Missense_Mutation_p.C32S|SPRR2D_ENST00000368758.3_Missense_Mutation_p.C32S|SPRR2D_ENST00000368756.1_Missense_Mutation_p.C32S			P22532	SPR2D_HUMAN	small proline-rich protein 2D	32	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].			C -> S (in Ref. 1; AAA36640). {ECO:0000305}.	epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCTCAGGGCACTTCGGGGG	0.617																																																	0													118	102	107					1																	153012728		2203	4297	6500	SO:0001583	missense	6703			AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.95G>C	1.37:g.153012728C>G	ENSP00000357746:p.Cys32Ser		A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Missense_Mutation	SNP	NULL	p.C32S	ENST00000368757.1	37	c.95	CCDS30864.1	1	.	.	.	.	.	.	.	.	.	.	C	0.051	-1.251348	0.01469	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	3.82	1.8	0.24995	.	0.482456	0.15948	N	0.236852	T	0.16514	0.0397	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.26677	-1.0096	9	0.87932	D	0	.	6.5453	0.22402	0.2079:0.5907:0.2014:0.0	.	32	P22532	SPR2D_HUMAN	S	32	ENSP00000353542:C32S;ENSP00000357747:C32S;ENSP00000357746:C32S;ENSP00000357745:C32S	ENSP00000353542:C32S	C	-	2	0	SPRR2D	151279352	0.916000	0.31088	0.002000	0.10522	0.002000	0.02628	1.419000	0.34793	0.186000	0.20125	-0.538000	0.04264	TGC	SPRR2D	-	NULL		0.617	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR2D	HGNC	protein_coding	OTTHUMT00000040051.1	C			153012728	-1	no_errors	ENST00000360379	ensembl	human	known	70_37	missense	SNP	0.008	G	G	153012728	C	G	153012728	3	3	188	1	0	0	0	0	1	0	0	0	15129	710	25	4	127	4	SPRR2D	1	153012728	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	953805	153012728	96237893	9	36304										
UBE2Q1	55585	genome.wustl.edu	37	chr1	154524884	154524884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	cagagtccccactcacttgaGgagtttgacattccaatcat	7	12	2	3			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:154524884G>T	ENST00000292211.4	-	7	950	c.871C>A	c.(871-873)Ctc>Atc	p.L291I	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	291					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTCACTTGAGGAGTTTGACA	0.507																																																	0													130	122	125					1																	154524884		2203	4300	6503	SO:0001583	missense	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.871C>A	1.37:g.154524884G>T	ENSP00000292211:p.Leu291Ile		B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L291I	ENST00000292211.4	37	c.871	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433385	0.43224	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.61	4.69	0.59074	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.213702	0.37136	N	0.002236	T	0.28001	0.0690	L	0.29908	0.895	0.37973	D	0.933336	B	0.06786	0.001	B	0.09377	0.004	T	0.06826	-1.0805	9	0.22706	T	0.39	.	12.6835	0.56934	0.08:0.0:0.92:0.0	.	291	Q7Z7E8	UB2Q1_HUMAN	I	291	.	ENSP00000292211:L291I	L	-	1	0	UBE2Q1	152791508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.349000	0.79376	2.654000	0.90174	0.563000	0.77884	CTC	UBE2Q1	-	superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.507	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	G	NM_017582		154524884	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	missense	SNP	1.000	T	T	154524884	G	T	154524884	3	4	188	1	0	0	0	0	1	0	0	0	16900	1000	35	4	425	4	UBE2Q1	1	154524884	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	1512156	154524884	94725737	10	36305										
CACNA1E	777	genome.wustl.edu	37	chr1	181680090	181680090	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	cttatccttcttgtccacagGgaatttgccaaagagagaga	9	9	1	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:181680090G>T	ENST00000367573.2	+	8	1056	c.1056G>T	c.(1054-1056)ggG>ggT	p.G352G	CACNA1E_ENST00000526775.1_Splice_Site_p.G352G|CACNA1E_ENST00000357570.5_Splice_Site_p.G303G|CACNA1E_ENST00000367570.1_Splice_Site_p.G352G|CACNA1E_ENST00000360108.3_Splice_Site_p.G352G|CACNA1E_ENST00000358338.5_Splice_Site_p.G303G|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	352					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTCCACAGGGAATTTGCCA	0.512																																																	0													54	56	56					1																	181680090		1927	4135	6062	SO:0001630	splice_region_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1056-1G>T	1.37:g.181680090G>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.G352	ENST00000367573.2	37	c.1056	CCDS55664.1	1																																																																																			CACNA1E	-	prints_VDCCAlpha1		0.512	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721	Silent	181680090	1	no_errors	ENST00000367573	ensembl	human	known	70_37	silent	SNP	1.000	T	T	181680090	G	T	181680090	5	4	188	1	0	0	0	0	0	0	1	0	2547	1246	43	4	1086	4	CACNA1E	1	181680090	Splice_Site	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	27155206	181680090	67570531	11	36306										
KIF26B	55083	genome.wustl.edu	37	chr1	245772793	245772793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gcaggacggccagtccccggGcgtgtacctctgtgaggacc	15	14	1	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr1:245772793G>A	ENST00000407071.2	+	8	2317	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D	KIF26B_ENST00000366518.4_Missense_Mutation_p.G245D	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	626	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGTCCCCGGGCGTGTACCTC	0.687																																																	0													12	16	15					1																	245772793		1970	4129	6099	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1877G>A	1.37:g.245772793G>A	ENSP00000385545:p.Gly626Asp		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G626D	ENST00000407071.2	37	c.1877	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451090	0.63290	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.74209	-0.82;-0.82	5.54	4.61	0.57282	Kinesin, motor domain (4);	.	.	.	.	D	0.83714	0.5314	L	0.56396	1.775	0.80722	D	1	D;P	0.76494	0.999;0.943	D;P	0.79784	0.993;0.874	D	0.85810	0.1379	9	0.87932	D	0	.	15.9336	0.79686	0.0:0.0:0.8636:0.1364	.	245;626	B7WPD9;Q2KJY2	.;KI26B_HUMAN	D	626;245;242	ENSP00000385545:G626D;ENSP00000355475:G245D	ENSP00000355475:G245D	G	+	2	0	KIF26B	243839416	1.000000	0.71417	0.989000	0.46669	0.931000	0.56810	9.813000	0.99286	1.437000	0.47472	0.650000	0.86243	GGC	KIF26B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.687	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245772793	1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	1.000	A	A	245772793	G	A	245772793	3	1	188	1	0	0	0	0	1	0	0	0	8315	1203	42	4	1907	4	KIF26B	1	245772793	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	64092703	245772793	3477828	12	36307										
TTN	7273	genome.wustl.edu	37	chr2	179469753	179469753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	atttcggaacactgagccaaGgcgattggaagcagtaactg	12	8	0	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr2:179469753G>T	ENST00000591111.1	-	230	49452	c.49228C>A	c.(49228-49230)Ctt>Att	p.L16410I	TTN_ENST00000342992.6_Missense_Mutation_p.L15483I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9178I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9111I|TTN_ENST00000460472.2_Missense_Mutation_p.L8986I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L18051I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16410	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGAGCCAAGGCGATTGGAA	0.453																																																	0													280	259	265					2																	179469753		1947	4138	6085	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49228C>A	2.37:g.179469753G>T	ENSP00000465570:p.Leu16410Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L15483I	ENST00000591111.1	37	c.46447		2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804210	0.31869	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.95	5.07	0.68467	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60392	0.2265	L	0.31207	0.915	0.37237	D	0.90595	P;P;P;P	0.49559	0.925;0.925;0.925;0.925	P;P;P;P	0.45071	0.468;0.468;0.468;0.468	T	0.70260	-0.4921	9	0.87932	D	0	.	15.0667	0.72002	0.0678:0.0:0.9322:0.0	.	8986;9111;9178;16410	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15483;8986;9178;9111;8986	ENSP00000343764:L15483I;ENSP00000434586:L8986I;ENSP00000340554:L9178I;ENSP00000352154:L9111I	ENSP00000340554:L9178I	L	-	1	0	TTN	179177998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.385000	0.59613	1.534000	0.49203	0.563000	0.77884	CTT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179469753	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179469753	G	T	179469753	3	4	188	1	0	0	0	0	1	0	0	0	16766	1000	35	4	53874	4	TTN	2	179469753	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09		179469753	63729620	13	36308										
TTN	7273	genome.wustl.edu	37	chr2	179582536	179582536	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	aagaaaggtggaagtttgcgCgctgtaaagaagttacagat	13	4	0	3	rs397517514		TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr2:179582536C>T	ENST00000591111.1	-	85	24338	c.24114G>A	c.(24112-24114)gcG>gcA	p.A8038A	TTN_ENST00000342992.6_Splice_Site_p.A7111A|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Splice_Site_p.A8355A|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12230				A -> E (in Ref. 3; CAD12456). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A7111A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTTGCGCGCTGTAAAGA	0.378													C|||	1	0.000199681	8e-04	0	5008	,	,		21075	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)											34	33	34					2																	179582536		1849	4095	5944	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24113-1G>A	2.37:g.179582536C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A7111	ENST00000591111.1	37	c.21333		2																																																																																			TTN	-	superfamily_RNaseH-like_dom		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378	Silent	179582536	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.999	T	T	179582536	C	T	179582536	5	4	188	1	0	0	0	0	0	0	1	0	16766	782	27	2	79568	2	TTN	2	179582536	Splice_Site	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	112783	179582536	63616837	14	36309										
FSIP2	401024	genome.wustl.edu	37	chr2	186670333	186670333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ttacacaaataagcagatgtGcaaaagagaaccaactttct	6	8	1	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr2:186670333G>A	ENST00000424728.1	+	17	16300	c.16300G>A	c.(16300-16302)Gca>Aca	p.A5434T	FSIP2_ENST00000343098.5_Missense_Mutation_p.A5523T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5434										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAGCAGATGTGCAAAAGAGAA	0.368																																																	0													102	95	98					2																	186670333		1846	4091	5937	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16300G>A	2.37:g.186670333G>A	ENSP00000401306:p.Ala5434Thr		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.A5523T	ENST00000424728.1	37	c.16567		2	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397357	0.42512	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.43688	0.94;0.94	5.13	-3.89	0.04193	.	.	.	.	.	T	0.15998	0.0385	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.25293	-1.0136	7	0.12766	T	0.61	.	1.1535	0.01791	0.1324:0.2486:0.2814:0.3375	.	.	.	.	T	5523;5434	ENSP00000344403:A5523T;ENSP00000401306:A5434T	ENSP00000344403:A5523T	A	+	1	0	FSIP2	186378578	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.170000	0.16663	-0.401000	0.07644	-0.740000	0.03531	GCA	FSIP2	-	NULL		0.368	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186670333	1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.000	A	A	186670333	G	A	186670333	3	1	188	1	0	0	0	0	1	0	0	0	6093	1319	46	4	16633	4	FSIP2	2	186670333	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	7087797	186670333	56529040	15	36310										
RAB5A	5868	genome.wustl.edu	37	chr3	20017662	20017662	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	aaagagcagtagatttccagGtatgttaaatttaactctca	7	6	1	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr3:20017662G>A	ENST00000273047.4	+	4	974		c.e4+1		RAB5A_ENST00000422242.1_Splice_Site	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family						blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						AGATTTCCAGGTATGTTAAAT	0.348																																																	0													50	48	49					3																	20017662		2203	4300	6503	SO:0001630	splice_region_variant	5868				CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"RAB, member RAS oncogene"	9783	protein-coding gene	gene with protein product	"RAS-associated protein RAB5A"	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.438+1G>A	3.37:g.20017662G>A			B4DJA5|Q6FI44	Splice_Site	SNP	-	e3+1	ENST00000273047.4	37	c.438+1	CCDS2633.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991686	0.74703	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2397	0.89963	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB5A	19992666	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.749000	0.98871	2.379000	0.81126	0.563000	0.77884	.	RAB5A	-	-		0.348	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB5A	HGNC	protein_coding	OTTHUMT00000252137.2	G	NM_004162	Intron	20017662	1	no_errors	ENST00000273047	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	20017662	G	A	20017662	5	1	188	1	0	0	0	0	0	0	1	0	12978	1275	44	4	449	4	RAB5A	3	20017662	Splice_Site	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09		20017662	178004768	16	36311										
ULK4	54986	genome.wustl.edu	37	chr3	41996205	41996205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gtcgccctttatagacaacaGtcttgcttcctcttccgatc	6	14	2	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr3:41996205G>T	ENST00000301831.4	-	2	509	c.47C>A	c.(46-48)aCt>aAt	p.T16N	ULK4_ENST00000414606.1_Missense_Mutation_p.T16N|ULK4_ENST00000420927.1_Missense_Mutation_p.T16N	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATAGACAACAGTCTTGCTTCC	0.418																																																	0													144	137	139					3																	41996205		1874	4107	5981	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.47C>A	3.37:g.41996205G>T	ENSP00000301831:p.Thr16Asn		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T16N	ENST00000301831.4	37	c.47	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313900	0.60414	.	.	ENSG00000168038	ENST00000301831;ENST00000420927;ENST00000414606	T;T;T	0.65549	-0.16;1.86;1.86	5.56	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.164665	0.53938	D	0.000047	T	0.72228	0.3434	L	0.54323	1.7	0.37401	D	0.912837	D;D	0.59357	0.973;0.985	P;P	0.58013	0.831;0.831	T	0.79354	-0.1838	10	0.72032	D	0.01	.	17.038	0.86481	0.0:0.1272:0.8728:0.0	.	16;16	B4E2M4;Q96C45	.;ULK4_HUMAN	N	16	ENSP00000301831:T16N;ENSP00000412187:T16N;ENSP00000399382:T16N	ENSP00000301831:T16N	T	-	2	0	ULK4	41971209	1.000000	0.71417	0.859000	0.33776	0.955000	0.61496	6.351000	0.73022	1.508000	0.48769	-0.231000	0.12243	ACT	ULK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.418	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	G	XM_929989		41996205	-1	no_errors	ENST00000301831	ensembl	human	known	70_37	missense	SNP	0.998	T	T	41996205	G	T	41996205	3	4	188	1	0	0	0	0	1	0	0	0	17009	1029	36	4	3924	4	ULK4	3	41996205	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	21978543	41996205	156026225	17	36312										
NBEAL2	23218	genome.wustl.edu	37	chr3	47045644	47045644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gtttcaacctgcgccgttcaGcacttgagctcttctttatc	7	13	4	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr3:47045644G>A	ENST00000450053.3	+	37	6138	c.5959G>A	c.(5959-5961)Gca>Aca	p.A1987T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1803T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A266T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1987					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCGCCGTTCAGCACTTGAGCT	0.587																																																	0													170	181	177					3																	47045644		2093	4207	6300	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5959G>A	3.37:g.47045644G>A	ENSP00000415034:p.Ala1987Thr		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1987T	ENST00000450053.3	37	c.5959	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.086900|5.086900	0.94100|0.94100	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000443829	T;T;T|T	0.79033|0.49139	-1.09;-0.88;-1.23|0.79	4.92|4.92	4.92|4.92	0.64577|0.64577	PH-BEACH domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71213|0.71213	0.3313|0.3313	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.87578|.	0.998;0.995|.	T|T	0.77040|0.77040	-0.2735|-0.2735	10|7	0.87932|0.66056	D|D	0|0.02	.|.	16.8698|16.8698	0.86038|0.86038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1803;1987|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	T|N	1803;266;1987|355	ENSP00000292309:A1803T;ENSP00000373246:A266T;ENSP00000415034:A1987T|ENSP00000414560:S355N	ENSP00000292309:A1803T|ENSP00000414560:S355N	A|S	+|+	1|2	0|0	NBEAL2|NBEAL2	47020648|47020648	1.000000|1.000000	0.71417|0.71417	0.104000|0.104000	0.21259|0.21259	0.923000|0.923000	0.55619|0.55619	9.657000|9.657000	0.98554|0.98554	2.573000|2.573000	0.86826|0.86826	0.561000|0.561000	0.74099|0.74099	GCA|AGC	NBEAL2	-	NULL		0.587	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47045644	1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.998	A	A	47045644	G	A	47045644	3	1	188	1	0	0	0	0	1	0	0	0	10212	971	34	4	6105	4	NBEAL2	3	47045644	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	5049439	47045644	150976786	18	36313										
KIAA1407	57577	genome.wustl.edu	37	chr3	113729657	113729657	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tggacccaccatggctgttgCctcctcaggtagactgatgc	11	13	1	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr3:113729657C>A	ENST00000295878.3	-	9	1521	c.1375G>T	c.(1375-1377)Gca>Tca	p.A459S	KIAA1407_ENST00000545063.1_Missense_Mutation_p.A290S	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	459										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATGGCTGTTGCCTCCTCAGGT	0.463																																																	0													159	144	149					3																	113729657		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1375G>T	3.37:g.113729657C>A	ENSP00000295878:p.Ala459Ser		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.A459S	ENST00000295878.3	37	c.1375	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362475	0.24684	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.44881	1.51;0.91;0.93	5.94	1.64	0.23874	.	1.364740	0.04196	N	0.329085	T	0.44052	0.1275	M	0.65975	2.015	0.21325	N	0.999722	P;P;P	0.47841	0.649;0.901;0.767	B;B;B	0.41510	0.359;0.359;0.359	T	0.38628	-0.9652	10	0.22109	T	0.4	.	10.3091	0.43697	0.0:0.6817:0.0:0.3183	.	446;335;459	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	S	459;290;446	ENSP00000295878:A459S;ENSP00000446381:A290S;ENSP00000418099:A446S	ENSP00000295878:A459S	A	-	1	0	KIAA1407	115212347	0.000000	0.05858	0.241000	0.24154	0.058000	0.15608	-0.081000	0.11321	0.414000	0.25790	-0.136000	0.14681	GCA	KIAA1407	-	NULL		0.463	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	C	NM_020817		113729657	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	missense	SNP	0.219	A	A	113729657	C	A	113729657	3	1	188	1	0	0	0	0	1	0	0	0	8249	739	26	4	1471	4	KIAA1407	3	113729657	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	66684013	113729657	84292773	19	36314										
ABCC5	10057	genome.wustl.edu	37	chr3	183655783	183655783	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	atcactgattctcactccatCaatcttgatgcagcctccag	5	14	4	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr3:183655783C>A	ENST00000334444.6	-	26	4000	c.3760G>T	c.(3760-3762)Gat>Tat	p.D1254Y	ABCC5_ENST00000265586.6_Missense_Mutation_p.D1211Y	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1254	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTCACTCCATCAATCTTGATG	0.532																																																	0													96	96	96					3																	183655783		2047	4208	6255	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3760G>T	3.37:g.183655783C>A	ENSP00000333926:p.Asp1254Tyr		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.D1254Y	ENST00000334444.6	37	c.3760	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018358	0.93404	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.92199	-2.99;-2.99	5.73	5.73	0.89815	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97492	1.0054	10	0.87932	D	0	-22.0613	19.8948	0.96954	0.0:1.0:0.0:0.0	.	1211;1254	Q86UX3;O15440	.;MRP5_HUMAN	Y	1254;1211	ENSP00000333926:D1254Y;ENSP00000265586:D1211Y	ENSP00000265586:D1211Y	D	-	1	0	ABCC5	185138477	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	7.802000	0.85969	2.699000	0.92147	0.655000	0.94253	GAT	ABCC5	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.532	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	C	NM_005688		183655783	-1	no_errors	ENST00000334444	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183655783	C	A	183655783	3	1	188	1	0	0	0	0	1	0	0	0	56	826	29	3	573	3	ABCC5	3	183655783	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	69926126	183655783	14366647	20	36315										
NHEDC2	133308	genome.wustl.edu	37	chr4	103987647	103987647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tttgcatctatacctttgagCttcataactgtctcctcctg	5	12	3	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr4:103987647C>T	ENST00000394785.3	-	3	739	c.108G>A	c.(106-108)aaG>aaA	p.K36K	SLC9B2_ENST00000503103.1_Silent_p.K36K|SLC9B2_ENST00000503230.1_Silent_p.K36K|SLC9B2_ENST00000362026.3_Silent_p.K36K|SLC9B2_ENST00000339611.4_Silent_p.K36K|SLC9B2_ENST00000505838.1_5'UTR	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	36					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										TACCTTTGAGCTTCATAACTG	0.318																																																	0													128	118	121					4																	103987647		2203	4299	6502	SO:0001819	synonymous_variant	133308			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.108G>A	4.37:g.103987647C>T			B5ME52|Q6ZMD8|Q96D95	Silent	SNP	pfam_Cation/H_exchanger	p.K36	ENST00000394785.3	37	c.108	CCDS3662.1	4																																																																																			SLC9B2	-	NULL		0.318	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B2	HGNC	protein_coding	OTTHUMT00000253805.1	C	NM_178833		103987647	-1	no_errors	ENST00000362026	ensembl	human	known	70_37	silent	SNP	0.000	T	T	103987647	C	T	103987647	2	4	188	1	0	0	0	0	0	0	0	1	10425	796	28	4		4	NHEDC2	4	103987647	Silent	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09		103987647	87166629	21	36316										
ENPEP	2028	genome.wustl.edu	37	chr4	111397949	111397949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gcatctccatcaacctgagcGctcccacccggtacctgtgg	9	17	2	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr4:111397949G>A	ENST00000265162.5	+	1	721	c.379G>A	c.(379-381)Gct>Act	p.A127T		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	127					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CAACCTGAGCGCTCCCACCCG	0.652																																																	0													87	92	90					4																	111397949		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.379G>A	4.37:g.111397949G>A	ENSP00000265162:p.Ala127Thr		Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A127T	ENST00000265162.5	37	c.379	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138272	0.37728	.	.	ENSG00000138792	ENST00000265162	T	0.02656	4.21	5.83	-10.5	0.00291	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	2.281760	0.01674	N	0.025770	T	0.01387	0.0045	N	0.11845	0.185	0.09310	N	1	P	0.38551	0.636	B	0.35114	0.196	T	0.44772	-0.9306	10	0.49607	T	0.09	.	1.8202	0.03109	0.2988:0.3719:0.1211:0.2082	.	127	Q07075	AMPE_HUMAN	T	127	ENSP00000265162:A127T	ENSP00000265162:A127T	A	+	1	0	ENPEP	111617398	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	-0.866000	0.04245	-1.520000	0.01773	0.561000	0.74099	GCT	ENPEP	-	pfam_Peptidase_M1_N		0.652	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	G			111397949	1	no_errors	ENST00000265162	ensembl	human	known	70_37	missense	SNP	0.000	A	A	111397949	G	A	111397949	3	1	188	1	0	0	0	0	1	0	0	0	5140	1087	38	2	381	2	ENPEP	4	111397949	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	7410302	111397949	79756327	22	36317										
NAA15	80155	genome.wustl.edu	37	chr4	140258071	140258071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	agaagcttatgaattggttcGtagaggtttgagaaatgact	12	3	0	5			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr4:140258071G>A	ENST00000296543.5	+	3	532	c.209G>A	c.(208-210)cGt>cAt	p.R70H	NAA15_ENST00000398947.1_Missense_Mutation_p.R70H|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	70					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.R70H(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAATTGGTTCGTAGAGGTTTG	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											136	127	130					4																	140258071		1897	4156	6053	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.209G>A	4.37:g.140258071G>A	ENSP00000296543:p.Arg70His		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R70H	ENST00000296543.5	37	c.209	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530583	0.85706	.	.	ENSG00000164134	ENST00000296543;ENST00000398947	T;T	0.52057	0.68;0.68	5.26	5.26	0.73747	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.74878	-0.3514	10	0.87932	D	0	-9.4103	18.8597	0.92267	0.0:0.0:1.0:0.0	.	70	Q9BXJ9	NAA15_HUMAN	H	70	ENSP00000296543:R70H;ENSP00000381920:R70H	ENSP00000296543:R70H	R	+	2	0	NAA15	140477521	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	9.476000	0.97823	2.442000	0.82660	0.563000	0.77884	CGT	NAA15	-	smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom		0.353	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140258071	1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140258071	G	A	140258071	3	1	188	1	0	0	0	0	1	0	0	0	10141	1145	40	2	219	2	NAA15	4	140258071	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	28860122	140258071	50896205	23	36318										
WWC2	80014	genome.wustl.edu	37	chr4	184175053	184175053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gttcgtcaccccacagaaacGtacccaagatgaattagaac	7	12	1	4			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr4:184175053G>A	ENST00000403733.3	+	9	1296	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	WWC2_ENST00000448232.2_Missense_Mutation_p.R366H|WWC2_ENST00000513834.1_Missense_Mutation_p.R366H|WWC2_ENST00000504005.1_Missense_Mutation_p.R48H|WWC2_ENST00000378925.3_Missense_Mutation_p.R268H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	366					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCACAGAAACGTACCCAAGAT	0.493																																																	0													70	75	73					4																	184175053		2203	4300	6503	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1097G>A	4.37:g.184175053G>A	ENSP00000384222:p.Arg366His		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R366H	ENST00000403733.3	37	c.1097	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358249	0.82243	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.15487	3.22;2.42;3.29;3.08;3.05	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.41811	0.1175	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02104	-1.1213	10	0.39692	T	0.17	-16.8646	19.663	0.95879	0.0:0.0:1.0:0.0	.	366	Q6AWC2	WWC2_HUMAN	H	366;268;366;366;48	ENSP00000384222:R366H;ENSP00000368205:R268H;ENSP00000425054:R366H;ENSP00000398577:R366H;ENSP00000427569:R48H	ENSP00000368205:R268H	R	+	2	0	WWC2	184412047	1.000000	0.71417	0.956000	0.39512	0.646000	0.38490	9.365000	0.97139	2.871000	0.98454	0.655000	0.94253	CGT	WWC2	-	NULL		0.493	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	G	NM_024949		184175053	1	no_errors	ENST00000448232	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184175053	G	A	184175053	3	1	188	1	0	0	0	0	1	0	0	0	17443	1145	40	2	1131	2	WWC2	4	184175053	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	43916982	184175053	6979223	24	36319										
PCDHB13	56123	genome.wustl.edu	37	chr5	140595503	140595503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gggccagaacgcctggctgtCgtaccagctgctcaaggcca	13	14	1	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr5:140595503C>T	ENST00000341948.4	+	1	1995	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	603	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTGGCTGTCGTACCAGCTG	0.731																																																	0													6	8	8					5																	140595503		1711	3407	5118	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1808C>T	5.37:g.140595503C>T	ENSP00000345491:p.Ser603Leu		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S603L	ENST00000341948.4	37	c.1808	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	-	19.46	3.831557	0.71258	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.54071	0.59	3.3	3.3	0.37823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73202	0.3557	M	0.82517	2.595	0.37936	D	0.93216	D	0.89917	1.0	D	0.77557	0.99	T	0.81602	-0.0858	9	0.87932	D	0	.	14.5914	0.68368	0.0:1.0:0.0:0.0	.	603	Q9Y5F0	PCDBD_HUMAN	L	603;603;549	ENSP00000345491:S603L	ENSP00000345491:S603L	S	+	2	0	PCDHB13	140575687	0.991000	0.36638	0.990000	0.47175	0.644000	0.38419	4.775000	0.62346	1.576000	0.49790	0.298000	0.19748	TCG	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.731	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	C	NM_018933		140595503	1	no_errors	ENST00000341948	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140595503	C	T	140595503	3	4	188	1	0	0	0	0	1	0	0	0	11562	893	31	1	1810	1	PCDHB13	5	140595503	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09		140595503	40319757	25	36320										
PCDHGB3	56102	genome.wustl.edu	37	chr5	140751844	140751844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gcgcacgggtgaggtgcgcaCggcgcgtaccttgggcgaca	18	12	0	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr5:140751844C>T	ENST00000576222.1	+	1	2014	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGTACC	0.677																																																	0													38	44	42					5																	140751844		2175	4263	6438	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1883C>T	5.37:g.140751844C>T	ENSP00000461862:p.Thr628Met		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T628M	ENST00000576222.1	37	c.1883	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	C	NM_018924		140751844	1	no_errors	ENST00000576222	ensembl	human	known	70_37	missense	SNP	0.490	T	T	140751844	C	T	140751844	3	4	188	1	0	0	0	0	1	0	0	0	11588	536	19	2	1885	2	PCDHGB3	5	140751844	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	156341	140751844	40163416	26	36321										
RNF39	80352	genome.wustl.edu	37	chr6	30043421	30043421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ccgtgaccgccttcgagcgcGcagatggcgggccgcccctg	15	17	0	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr6:30043421G>A	ENST00000244360.6	-	1	243	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RNF39_ENST00000376751.3_Missense_Mutation_p.A49V	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	49						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CTTCGAGCGCGCAGATGGCGG	0.672																																					NSCLC(8;188 360 1520 20207 31481)												0													25	27	26					6																	30043421		2201	4296	6497	SO:0001583	missense	80352			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.146C>T	6.37:g.30043421G>A	ENSP00000244360:p.Ala49Val		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.A49V	ENST00000244360.6	37	c.146	CCDS4673.1	6	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635272	0.67130	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.71103	-0.06;-0.54	3.79	0.627	0.17675	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B;B	0.31318	0.013;0.319	B;B	0.18561	0.005;0.022	T	0.07616	-1.0763	9	0.35671	T	0.21	-2.6255	5.6728	0.17731	0.1038:0.0:0.454:0.4422	.	49;49	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	V	49	ENSP00000365942:A49V;ENSP00000244360:A49V	ENSP00000244360:A49V	A	-	2	0	RNF39	30151400	0.003000	0.15002	0.014000	0.15608	0.861000	0.49209	0.783000	0.26802	0.216000	0.20781	0.436000	0.28706	GCG	RNF39	-	NULL		0.672	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF39	HGNC	protein_coding	OTTHUMT00000076625.3	G	NM_170769		30043421	-1	no_errors	ENST00000244360	ensembl	human	known	70_37	missense	SNP	0.020	A	A	30043421	G	A	30043421	3	1	188	1	0	0	0	0	1	0	0	0	13521	1087	38	2	1132	2	RNF39	6	30043421	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09		30043421	141071646	27	36322										
ZBTB12	221527	genome.wustl.edu	37	chr6	31868724	31868724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tgaactggctgagggcattcCggcatttctccaccacgtgc	11	13	1	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr6:31868724C>T	ENST00000375527.2	-	2	534	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GAGGGCATTCCGGCATTTCTC	0.567																																																	0													78	74	75					6																	31868724		2203	4300	6503	SO:0001583	missense	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.359G>A	6.37:g.31868724C>T	ENSP00000364677:p.Arg120Gln		B0UY00|Q5JQ98	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R120Q	ENST00000375527.2	37	c.359	CCDS4727.1	6	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115145	0.37339	.	.	ENSG00000204366	ENST00000375527	T	0.66995	-0.24	4.4	2.57	0.30868	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.071281	0.56097	N	0.000037	T	0.28300	0.0699	L	0.35854	1.095	0.21675	N	0.999593	B	0.28178	0.202	B	0.19946	0.027	T	0.13818	-1.0495	10	0.23891	T	0.37	.	7.6971	0.28600	0.1627:0.7478:0.0:0.0895	.	120	Q9Y330	ZBT12_HUMAN	Q	120	ENSP00000364677:R120Q	ENSP00000364677:R120Q	R	-	2	0	ZBTB12	31976703	0.300000	0.24435	0.760000	0.31359	0.991000	0.79684	2.693000	0.47027	0.291000	0.22468	0.530000	0.56133	CGG	ZBTB12	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.567	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2	C	NM_181842		31868724	-1	no_errors	ENST00000375527	ensembl	human	known	70_37	missense	SNP	0.273	T	T	31868724	C	T	31868724	3	4	188	1	0	0	0	0	1	0	0	0	17555	652	23	2	1024	2	ZBTB12	6	31868724	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	1825303	31868724	139246343	28	36323										
POLR1C	9533	genome.wustl.edu	37	chr6	43488402	43488402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ttcaccagtggcaacagccaGttacaggctcctgccagaca	9	14	1	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr6:43488402G>T	ENST00000372389.3	+	7	783	c.695G>T	c.(694-696)aGt>aTt	p.S232I	POLR1C_ENST00000304004.3_Missense_Mutation_p.S232I|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Intron	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	232					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCAACAGCCAGTTACAGGCTC	0.537																																																	0													96	100	98					6																	43488402		2203	4300	6503	SO:0001583	missense	9533			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.695G>T	6.37:g.43488402G>T	ENSP00000361465:p.Ser232Ile		O75395|Q5JTE3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.S232I	ENST00000372389.3	37	c.695	CCDS4901.1	6	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968707	0.92855	.	.	ENSG00000171453	ENST00000372389;ENST00000304004	D;T	0.83992	-1.79;-0.8	5.14	5.14	0.70334	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	M	0.89840	3.065	0.80722	D	1	D;D	0.60160	0.984;0.987	P;D	0.70487	0.904;0.969	D	0.91700	0.5373	10	0.46703	T	0.11	-16.7909	18.9618	0.92680	0.0:0.0:1.0:0.0	.	232;232	O15160-2;O15160	.;RPAC1_HUMAN	I	232	ENSP00000361465:S232I;ENSP00000307212:S232I	ENSP00000307212:S232I	S	+	2	0	POLR1C	43596380	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.549000	0.98106	2.552000	0.86080	0.591000	0.81541	AGT	POLR1C	-	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3		0.537	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	G	NM_004875		43488402	1	no_errors	ENST00000372389	ensembl	human	known	70_37	missense	SNP	1.000	T	T	43488402	G	T	43488402	3	4	188	1	0	0	0	0	1	0	0	0	12235	1029	36	4	721	4	POLR1C	6	43488402	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	11619678	43488402	127626665	29	36324										
LINGO2	158038	genome.wustl.edu	37	chr9	27949873	27949873	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ccaggtgtttaaaggcaaggAagggtacagtagacagattg	14	5	0	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr9:27949873A>T	ENST00000379992.2	-	6	1246	c.797T>A	c.(796-798)tTc>tAc	p.F266Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.F266Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	266						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AAAGGCAAGGAAGGGTACAGT	0.478																																																	0													266	241	250					9																	27949873		2203	4300	6503	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.797T>A	9.37:g.27949873A>T	ENSP00000369328:p.Phe266Tyr		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F266Y	ENST00000379992.2	37	c.797	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	A	0.296	-0.976706	0.02215	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.79940	-1.32;-1.32	6.17	5.0	0.66597	.	0.056742	0.64402	D	0.000001	T	0.57169	0.2035	N	0.05351	-0.065	0.39180	D	0.962751	B	0.02656	0.0	B	0.04013	0.001	T	0.54801	-0.8239	9	.	.	.	.	5.047	0.14488	0.654:0.0:0.0877:0.2583	.	266	Q7L985	LIGO2_HUMAN	Y	266	ENSP00000369328:F266Y;ENSP00000310126:F266Y	.	F	-	2	0	LINGO2	27939873	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.009000	0.49552	2.371000	0.80710	0.533000	0.62120	TTC	LINGO2	-	smart_Leu-rich_rpt_typical-subtyp		0.478	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	A	NM_152570		27949873	-1	no_errors	ENST00000308675	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27949873	A	T	27949873	3	4	188	1	0	0	0	0	1	0	0	0	8836	246	9	5	1027	5	LINGO2	9	27949873	Missense_Mutation	SNP	A	TCGA-Q1-A73R-01A-11D-A33O-09		27949873	113263558	30	36325										
GNE	10020	genome.wustl.edu	37	chr9	36222893	36222893	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	cagggagatgcaaagtgtcaGaaaggggggtcctaaggtcc	16	7	1	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr9:36222893G>A	ENST00000539815.1	-	8	1554	c.1514C>T	c.(1513-1515)tCt>tTt	p.S505F	GNE_ENST00000539208.1_Missense_Mutation_p.S395F|GNE_ENST00000396594.3_Missense_Mutation_p.S536F|GNE_ENST00000543356.2_Missense_Mutation_p.S500F|GNE_ENST00000377902.5_Missense_Mutation_p.S505F|GNE_ENST00000447283.2_Intron			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	505	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CAAAGTGTCAGAAAGGGGGGT	0.498																																					GBM(184;106 2118 20004 35750 50727)												0													130	123	126					9																	36222893		2203	4300	6503	SO:0001583	missense	10020			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1514C>T	9.37:g.36222893G>A	ENSP00000439155:p.Ser505Phe		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.S536F	ENST00000539815.1	37	c.1607	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945712	0.73672	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.7	5.7	0.88788	.	0.048469	0.85682	D	0.000000	D	0.96676	0.8915	M	0.88241	2.94	0.80722	D	1	P;P;P;P	0.46327	0.688;0.85;0.85;0.876	B;B;B;B	0.41619	0.181;0.325;0.325;0.361	D	0.97324	0.9946	10	0.66056	D	0.02	-3.5279	17.3339	0.87274	0.0:0.0:1.0:0.0	.	395;464;536;505	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223	.;.;.;GLCNE_HUMAN	F	505;536;500;505;477;395	ENSP00000367134:S505F;ENSP00000379839:S536F;ENSP00000439155:S505F;ENSP00000445117:S395F	ENSP00000340770:S500F	S	-	2	0	GNE	36212893	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.162000	0.94745	2.675000	0.91044	0.591000	0.81541	TCT	GNE	-	pfam_ROK		0.498	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	G	NM_005476		36222893	-1	no_errors	ENST00000396594	ensembl	human	known	70_37	missense	SNP	1.000	A	A	36222893	G	A	36222893	3	1	188	1	0	0	0	0	1	0	0	0	6541	942	33	1	670	1	GNE	9	36222893	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	8273020	36222893	104990538	31	36326										
ZBTB34	403341	genome.wustl.edu	37	chr9	129642988	129642988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	accattccgctgtgagatctGcgggaagtgctttccattcc	10	12	1	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr9:129642988G>T	ENST00000373452.2	+	1	1362	c.1298G>T	c.(1297-1299)tGc>tTc	p.C433F	ZBTB34_ENST00000319119.4_Missense_Mutation_p.C437F			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C437Y(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TGTGAGATCTGCGGGAAGTGC	0.527																																																	1	Substitution - Missense(1)	endometrium(1)											84	83	83					9																	129642988		2009	4176	6185	SO:0001583	missense	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.1298G>T	9.37:g.129642988G>T	ENSP00000362551:p.Cys433Phe		Q38IA7|Q5VYE9	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C437F	ENST00000373452.2	37	c.1310	CCDS48023.1	9	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643507	0.67244	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	D;D	0.99974	-10.2;-10.2	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.99984	0.9995	H	0.97707	4.06	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99285	1.0897	10	0.87932	D	0	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	433	Q8NCN2	ZBT34_HUMAN	F	437;433	ENSP00000317534:C437F;ENSP00000362551:C433F	ENSP00000317534:C437F	C	+	2	0	ZBTB34	128682809	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.414000	0.97362	2.778000	0.95560	0.655000	0.94253	TGC	ZBTB34	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.527	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB34	HGNC	protein_coding		G	NM_001099270		129642988	1	no_errors	ENST00000319119	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129642988	G	T	129642988	3	4	188	1	0	0	0	0	1	0	0	0	17567	1319	46	4	1300	4	ZBTB34	9	129642988	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	93420095	129642988	11570443	32	36327										
COL17A1	1308	genome.wustl.edu	37	chr10	105816868	105816868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tccccaagggccgccgccagCgccaccaacaccgccacctc	8	23	0	0	rs566545663	byFrequency	TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr10:105816868C>T	ENST00000353479.5	-	17	1620	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Missense_Mutation_p.A444T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	444	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ccgccgccagcgccaccaaca	0.647																																																	0													29	38	35					10																	105816868		2202	4300	6502	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1330G>A	10.37:g.105816868C>T	ENSP00000340937:p.Ala444Thr		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.A444T	ENST00000353479.5	37	c.1330	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355931	0.41700	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	T;T	0.44482	0.92;0.92	4.72	0.668	0.17912	.	1.998870	0.02803	N	0.123398	T	0.32526	0.0832	N	0.22421	0.69	0.21762	N	0.999552	B;B	0.26935	0.164;0.102	B;B	0.22880	0.042;0.019	T	0.34304	-0.9834	10	0.62326	D	0.03	1.2344	9.3783	0.38297	0.0:0.6993:0.0:0.3007	.	444;444	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	T	444;444;428	ENSP00000340937:A444T;ENSP00000358748:A444T	ENSP00000340937:A444T	A	-	1	0	COL17A1	105806858	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.010000	0.13242	-0.149000	0.11215	0.313000	0.20887	GCT	COL17A1	-	NULL		0.647	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494		105816868	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	missense	SNP	0.008	T	T	105816868	C	T	105816868	3	4	188	1	0	0	0	0	1	0	0	0	3679	768	27	2	3323	2	COL17A1	10	105816868	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09		105816868	29717879	33	36328										
MXI1	4601	genome.wustl.edu	37	chr10	112039840	112039840	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	cagatcgttctgattcagagCgaggtaggcagcttgcctct	12	10	3	3			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr10:112039840C>T	ENST00000239007.7	+	5	738	c.520C>T	c.(520-522)Cga>Tga	p.R174*	MXI1_ENST00000332674.5_Nonsense_Mutation_p.R241*|MXI1_ENST00000361248.4_Nonsense_Mutation_p.R128*|MXI1_ENST00000369612.1_Nonsense_Mutation_p.R138*|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000393134.1_Nonsense_Mutation_p.R164*	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	174					cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGATTCAGAGCGAGGTAGGCA	0.443																																																	0													93	84	87					10																	112039840		2203	4300	6503	SO:0001587	stop_gained	4601			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7534	protein-coding gene	gene with protein product		600020	"MAX interacting protein 1", "MAX interactor 1"			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.520C>T	10.37:g.112039840C>T	ENSP00000239007:p.Arg174*		B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Nonsense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R241*	ENST00000239007.7	37	c.721	CCDS7564.2	10	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911600	0.72983	.	.	ENSG00000119950	ENST00000332674;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000369612	.	.	.	5.6	5.6	0.85130	.	0.132853	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0555	14.7858	0.69803	0.1443:0.8557:0.0:0.0	.	.	.	.	X	241;128;174;164;164;138;138;138	.	ENSP00000239007:R174X	R	+	1	2	MXI1	112029830	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.876000	0.39588	2.805000	0.96524	0.650000	0.86243	CGA	MXI1	-	NULL		0.443	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050316.1	C	NM_130439		112039840	1	no_errors	ENST00000332674	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	112039840	C	T	112039840	4	4	188	1	0	0	0	0	0	1	0	0	10025	760	27	2	816	2	MXI1	10	112039840	Nonsense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	6222972	112039840	23494907	34	36329										
C11orf35	256329	genome.wustl.edu	37	chr11	557577	557577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ggaggcctagctcacctcccCggtgggggcctgaatgtttt	14	12	1	1	rs146558617	byFrequency	TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr11:557577C>A	ENST00000329451.3	-	6	681	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000431809.1_5'Flank	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		207										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCACCTCCCCGGTGGGGGCC	0.637																																																	0													59	58	58					11																	557577		2202	4300	6502	SO:0001583	missense	256329																														ENST00000329451.3:c.619G>T	11.37:g.557577C>A	ENSP00000331167:p.Gly207Trp			Missense_Mutation	SNP	pfam_Lamin_tail_dom	p.G207W	ENST00000329451.3	37	c.619	CCDS7701.1	11	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082976	0.36758	.	.	ENSG00000185522	ENST00000329451;ENST00000441853;ENST00000486629	T;T;T	0.34472	1.36;1.36;1.36	3.2	0.175	0.15045	.	0.173210	0.27622	N	0.018548	T	0.37019	0.0988	L	0.27053	0.805	0.09310	N	0.999997	D	0.89917	1.0	D	0.80764	0.994	T	0.13361	-1.0512	10	0.87932	D	0	-3.8301	3.4346	0.07441	0.0:0.4803:0.2574:0.2623	.	207	Q8IXW0	CK035_HUMAN	W	207;214;217	ENSP00000331167:G207W;ENSP00000393529:G214W;ENSP00000435529:G217W	ENSP00000331167:G207W	G	-	1	0	C11orf35	547577	0.000000	0.05858	0.146000	0.22360	0.637000	0.38172	-1.756000	0.01813	0.052000	0.16007	0.456000	0.33151	GGG	C11orf35	-	NULL		0.637	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf35	HGNC	protein_coding	OTTHUMT00000254973.2	C			557577	-1	no_errors	ENST00000329451	ensembl	human	known	70_37	missense	SNP	0.122	A	A	557577	C	A	557577	3	1	188	1	0	0	0	0	1	0	0	0	1642	652	23	2	1321	2	C11orf35	11	557577	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09		557577	134448939	35	36330										
ILK	3611	genome.wustl.edu	37	chr11	6631719	6631719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ttggaaggccttcggcctacCatcccaccaggtatttcccc	8	16	0	0	rs569395635		TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr11:6631719C>T	ENST00000396751.2	+	12	1692	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	ILK_ENST00000420936.2_Silent_p.T412T|ILK_ENST00000528995.1_Silent_p.T351T|ILK_ENST00000299421.4_Silent_p.T412T|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000537806.1_Silent_p.T278T|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	412	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TTCGGCCTACCATCCCACCAG	0.488													C|||	1	0.000199681	0	0.0014	5008	,	,		20365	0		0	False		,,,				2504	0																0													79	79	79					11																	6631719		2201	4296	6497	SO:0001819	synonymous_variant	3611			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1236C>T	11.37:g.6631719C>T			B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T412	ENST00000396751.2	37	c.1236	CCDS7768.1	11																																																																																			ILK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_cat_dom		0.488	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1	C	NM_004517		6631719	1	no_errors	ENST00000299421	ensembl	human	known	70_37	silent	SNP	1.000	T	T	6631719	C	T	6631719	2	4	188	1	0	0	0	0	0	0	0	1	7733	581	21	4		4	ILK	11	6631719	Silent	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	6074142	6631719	128374797	36	36331										
ARHGEF17	9828	genome.wustl.edu	37	chr11	73021308	73021308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ggacttgacagccactctgcGgagagcaaagtcattcacct	10	12	3	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr11:73021308G>A	ENST00000263674.3	+	1	1975	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	542					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCCACTCTGCGGAGAGCAAAG	0.642																																																	0													51	51	51					11																	73021308		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1625G>A	11.37:g.73021308G>A	ENSP00000263674:p.Arg542Gln		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.R542Q	ENST00000263674.3	37	c.1625	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794086	0.90453	.	.	ENSG00000110237	ENST00000263674	T	0.74737	-0.87	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000010	T	0.79482	0.4453	L	0.29908	0.895	0.39370	D	0.96606	D	0.89917	1.0	D	0.80764	0.994	T	0.83138	-0.0110	10	0.87932	D	0	-16.8264	16.1961	0.82025	0.0:0.0:1.0:0.0	.	542	Q96PE2	ARHGH_HUMAN	Q	542	ENSP00000263674:R542Q	ENSP00000263674:R542Q	R	+	2	0	ARHGEF17	72698956	1.000000	0.71417	0.510000	0.27712	0.867000	0.49689	9.597000	0.98273	2.384000	0.81235	0.561000	0.74099	CGG	ARHGEF17	-	superfamily_Vinculin/catenin		0.642	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	G	NM_014786		73021308	1	no_errors	ENST00000263674	ensembl	human	known	70_37	missense	SNP	0.957	A	A	73021308	G	A	73021308	3	1	188	1	0	0	0	0	1	0	0	0	900	1116	39	2	1627	2	ARHGEF17	11	73021308	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	66389589	73021308	61985208	37	36332										
CEP164	22897	genome.wustl.edu	37	chr11	117242155	117242155	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	aagaagaaggcttctgctctGgaagagggcagttcagacgc	14	8	3	4			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr11:117242155G>T	ENST00000278935.3	+	9	1272	c.1125G>T	c.(1123-1125)ctG>ctT	p.L375L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	375					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTTCTGCTCTGGAAGAGGGCA	0.577																																																	0													78	72	74					11																	117242155		2201	4296	6497	SO:0001819	synonymous_variant	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1125G>T	11.37:g.117242155G>T			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.L375	ENST00000278935.3	37	c.1125	CCDS31683.1	11																																																																																			CEP164	-	NULL		0.577	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	G	NM_014956		117242155	1	no_errors	ENST00000278935	ensembl	human	known	70_37	silent	SNP	0.000	T	T	117242155	G	T	117242155	2	4	188	1	0	0	0	0	0	0	0	1	3254	1335	47	4		4	CEP164	11	117242155	Silent	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	44220847	117242155	17764361	38	36333										
CXCR5	643	genome.wustl.edu	37	chr11	118764809	118764809	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tccttgccttgccagagattCtcttcgccaaagtcagccaa	7	14	2	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr11:118764809C>T	ENST00000292174.4	+	2	732	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	186					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCCAGAGATTCTCTTCGCCAA	0.602																																																	0													68	58	61					11																	118764809		2200	4295	6495	SO:0001583	missense	643			X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	1060	protein-coding gene	gene with protein product		601613	"Burkitt lymphoma receptor 1, GTP-binding protein", "Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.556C>T	11.37:g.118764809C>T	ENSP00000292174:p.Leu186Phe		Q14811	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt	p.L186F	ENST00000292174.4	37	c.556	CCDS8402.1	11	.	.	.	.	.	.	.	.	.	.	C	7.159	0.585391	0.13749	.	.	ENSG00000160683	ENST00000292174	T	0.73152	-0.72	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.155077	0.43110	D	0.000610	T	0.56411	0.1983	L	0.41573	1.285	0.80722	D	1	B	0.33637	0.42	B	0.31686	0.134	T	0.58651	-0.7599	10	0.48119	T	0.1	.	6.413	0.21702	0.1965:0.7054:0.0:0.0981	.	186	P32302	CXCR5_HUMAN	F	186	ENSP00000292174:L186F	ENSP00000292174:L186F	L	+	1	0	CXCR5	118270019	0.949000	0.32298	0.996000	0.52242	0.256000	0.26092	1.778000	0.38614	2.029000	0.59856	0.313000	0.20887	CTC	CXCR5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt		0.602	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR5	HGNC	protein_coding	OTTHUMT00000389309.1	C	NM_001716		118764809	1	no_errors	ENST00000292174	ensembl	human	known	70_37	missense	SNP	0.984	T	T	118764809	C	T	118764809	3	4	188	1	0	0	0	0	1	0	0	0	4099	913	32	1	562	1	CXCR5	11	118764809	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	1522654	118764809	16241707	39	36334										
MFRP	83552	genome.wustl.edu	37	chr11	119212390	119212390	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tggcagacagagcggcaaggGggcagaacactgcctagtgg	17	9	0	3			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr11:119212390G>T	ENST00000530681.1	-	13	1752	c.1608C>A	c.(1606-1608)ccC>ccA	p.P536P	C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Silent_p.P536P|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000360167.4_Silent_p.P418P|MFRP_ENST00000449574.2_Silent_p.P536P	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	536	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGCGGCAAGGGGGCAGAACAC	0.652																																																	0													33	39	37					11																	119212390		2199	4295	6494	SO:0001819	synonymous_variant	83552			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1608C>A	11.37:g.119212390G>T			B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt	p.P536	ENST00000530681.1	37	c.1608	CCDS8421.1	11																																																																																			MFRP	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.652	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	MFRP	HGNC	protein_coding	OTTHUMT00000415179.1	G	NM_031433		119212390	-1	no_errors	ENST00000449574	ensembl	human	known	70_37	silent	SNP	1.000	T	T	119212390	G	T	119212390	2	4	188	1	0	0	0	0	0	0	0	1	9549	1219	43	4		4	MFRP	11	119212390	Silent	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	447581	119212390	15794126	40	36335										
VWF	7450	genome.wustl.edu	37	chr12	6132797	6132797	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	atgagggcgtcagtactcacGgcacaatgtggccgtcctcc	12	13	2	1	rs139579968	byFrequency	TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr12:6132797G>A	ENST00000261405.5	-	25	3633	c.3379C>T	c.(3379-3381)Ccc>Tcc	p.P1127S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1127					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTACTCACGGCACAATGTG	0.577																																																	0								G	SER/PRO	0,4406		0,0,2203	85	75	78		3379	5.1	1	12	dbSNP_134	78	1,8599		0,1,4299	yes	missense-near-splice	VWF	NM_000552.3	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1127/2814	6132797	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3379+1C>T	12.37:g.6132797G>A			Q8TCE8|Q99806	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P1127S	ENST00000261405.5	37	c.3379	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	19.23	3.786672	0.70337	0.0	1.16E-4	ENSG00000110799	ENST00000261405	T	0.78126	-1.15	5.11	5.11	0.69529	Uncharacterised domain, cysteine-rich (2);	0.000000	0.43416	D	0.000573	D	0.89291	0.6673	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90064	0.4158	9	.	.	.	.	17.8912	0.88872	0.0:0.0:1.0:0.0	.	1127	P04275	VWF_HUMAN	S	1127	ENSP00000261405:P1127S	.	P	-	1	0	VWF	6003058	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	7.578000	0.82498	2.533000	0.85409	0.455000	0.32223	CCC	VWF	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich,pirsf_VWF		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	G	NM_000552	Missense_Mutation	6132797	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6132797	G	A	6132797	5	1	188	1	0	0	0	0	0	0	1	0	17277	1130	39	2	5174	2	VWF	12	6132797	Splice_Site	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09		6132797	127719098	41	36336										
TAS2R19	259294	genome.wustl.edu	37	chr12	11174729	11174729	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ccacactctctcatccatggTtatcacagcaagattacaaa	4	13	3	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr12:11174729T>A	ENST00000390673.2	-	1	490	c.442A>T	c.(442-444)Acc>Tcc	p.T148S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	148					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCATCCATGGTTATCACAGCA	0.388																																																	0													119	108	112					12																	11174729		2203	4300	6503	SO:0001583	missense	259294			AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.442A>T	12.37:g.11174729T>A	ENSP00000375091:p.Thr148Ser		Q3MIJ4|Q645X8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.T148S	ENST00000390673.2	37	c.442	CCDS8640.1	12	.	.	.	.	.	.	.	.	.	.	T	6.485	0.457677	0.12342	.	.	ENSG00000212124	ENST00000390673	T	0.00745	5.75	2.14	-4.29	0.03721	.	2.045250	0.02689	N	0.110475	T	0.00524	0.0017	N	0.05031	-0.125	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.48043	-0.9069	10	0.39692	T	0.17	.	3.8246	0.08849	0.5642:0.0:0.1895:0.2463	.	148	P59542	T2R19_HUMAN	S	148	ENSP00000375091:T148S	ENSP00000375091:T148S	T	-	1	0	TAS2R19	11065996	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.625000	0.05534	-1.044000	0.03254	0.333000	0.21579	ACC	TAS2R19	-	pfam_TAS2_rcpt		0.388	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R19	HGNC	protein_coding	OTTHUMT00000370080.1	T	NM_176888		11174729	-1	no_errors	ENST00000390673	ensembl	human	known	70_37	missense	SNP	0.000	A	A	11174729	T	A	11174729	3	1	188	1	0	0	0	0	1	0	0	0	15600	1725	60	5	460	5	TAS2R19	12	11174729	Missense_Mutation	SNP	T	TCGA-Q1-A73R-01A-11D-A33O-09	5041932	11174729	122677166	42	36337										
OVCH1	341350	genome.wustl.edu	37	chr12	29649490	29649490	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	atgcctttgttgcactgaccTgccatggatgtccagtcact	9	12	1	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr12:29649490T>C	ENST00000318184.5	-	2	181	c.182A>G	c.(181-183)cAg>cGg	p.Q61R		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	61	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCACTGACCTGCCATGGATG	0.393																																																	0													87	84	85					12																	29649490		1884	4098	5982	SO:0001630	splice_region_variant	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.183+1A>G	12.37:g.29649490T>C				Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q61R	ENST00000318184.5	37	c.182		12	.	.	.	.	.	.	.	.	.	.	T	16.45	3.125370	0.56721	.	.	ENSG00000187950	ENST00000318184	D	0.90620	-2.7	2.89	2.89	0.33648	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93390	0.7892	M	0.87547	2.89	0.20563	N	0.999881	P	0.52170	0.951	P	0.54270	0.747	D	0.85954	0.1466	9	0.66056	D	0.02	.	7.6339	0.28255	0.0:0.0:0.0:1.0	.	61	Q7RTY7	OVCH1_HUMAN	R	61	ENSP00000326708:Q61R	ENSP00000326708:Q61R	Q	-	2	0	OVCH1	29540757	0.805000	0.28982	0.912000	0.35992	0.235000	0.25334	0.424000	0.21330	1.577000	0.49804	0.459000	0.35465	CAG	OVCH1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.393	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	T	NM_183378	Missense_Mutation	29649490	-1	no_errors	ENST00000318184	ensembl	human	known	70_37	missense	SNP	0.927	C	C	29649490	T	C	29649490	5	2	188	1	0	0	0	0	0	0	1	0	11347	1594	55	5	3330	5	OVCH1	12	29649490	Splice_Site	SNP	T	TCGA-Q1-A73R-01A-11D-A33O-09	18474761	29649490	104202405	43	36338										
MLL2	8085	genome.wustl.edu	37	chr12	49426773	49426773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	agttgctgttgctgttgcagCtgctgctgctgctgaagctg	14	9	0	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr12:49426773C>T	ENST00000301067.7	-	39	11714	c.11715G>A	c.(11713-11715)caG>caA	p.Q3905Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3905	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										gctgttgcagctgctgctgct	0.562																																																	0													12	15	14					12																	49426773		1760	3253	5013	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11715G>A	12.37:g.49426773C>T			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3905	ENST00000301067.7	37	c.11715	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49426773	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	0.723	T	T	49426773	C	T	49426773	2	4	188	1	0	0	0	0	0	0	0	1	9644	796	28	4		4	MLL2	12	49426773	Silent	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	19777283	49426773	84425122	44	36339										
ERBB3	2065	genome.wustl.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																																	9	Substitution - Missense(9)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)											186	159	168					12																	56478854		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V104M	ENST00000267101.3	37	c.310	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56478854	1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.994	A	A	56478854	G	A	56478854	3	1	188	1	0	0	0	0	1	0	0	0	5220	1145	40	2	320	2	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	7052081	56478854	77373041	45	36340										
EAPP	55837	genome.wustl.edu	37	chr14	34998644	34998644	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	aattcgtcatttgttggaatCttgtgttgtttcttcttttt	7	5	4	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr14:34998644C>T	ENST00000250454.3	-	4	471	c.390G>A	c.(388-390)aaG>aaA	p.K130K		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	130					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTGTTGGAATCTTGTGTTGTT	0.343																																																	0													143	126	131					14																	34998644		1835	4087	5922	SO:0001819	synonymous_variant	55837			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.390G>A	14.37:g.34998644C>T			Q9BVF4|Q9NWV5|Q9NZ86	Silent	SNP	pfam_E2F-assoc_phosphoprotein	p.K130	ENST00000250454.3	37	c.390	CCDS41941.1	14																																																																																			EAPP	-	NULL		0.343	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAPP	HGNC	protein_coding	OTTHUMT00000409847.1	C	NM_018453		34998644	-1	no_errors	ENST00000250454	ensembl	human	known	70_37	silent	SNP	0.998	T	T	34998644	C	T	34998644	2	4	188	1	0	0	0	0	0	0	0	1	4887	912	32	1		1	EAPP	14	34998644	Silent	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09		34998644	72350896	46	36341										
JDP2	122953	genome.wustl.edu	37	chr14	75936102	75936102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gaaccgacaccgccccacctGcatcgtccggaccgacagtg	10	18	0	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr14:75936102G>A	ENST00000435893.2	+	4	689	c.416G>A	c.(415-417)tGc>tAc	p.C139Y	JDP2_ENST00000419727.2_Missense_Mutation_p.C139Y|JDP2_ENST00000437176.1_Missense_Mutation_p.C139Y|JDP2_ENST00000267569.5_Missense_Mutation_p.C150Y	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	139					negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	CGCCCCACCTGCATCGTCCGG	0.612																																																	0													67	60	63					14																	75936102		2203	4300	6503	SO:0001583	missense	122953			AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"basic leucine zipper proteins"	17546	protein-coding gene	gene with protein product	"progesterone receptor co-activator"	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.416G>A	14.37:g.75936102G>A	ENSP00000399587:p.Cys139Tyr		J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.C150Y	ENST00000435893.2	37	c.449	CCDS9842.1	14	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208898	0.79240	.	.	ENSG00000140044	ENST00000419727;ENST00000437176;ENST00000435893;ENST00000267569	T;T;T;T	0.65732	-0.09;-0.09;-0.09;-0.17	4.58	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	L	0.32530	0.975	0.51012	D	0.999902	D	0.71674	0.998	D	0.80764	0.994	T	0.72940	-0.4139	10	0.87932	D	0	-1.8192	14.1339	0.65273	0.0:0.0:0.8489:0.1511	.	139	Q8WYK2	JDP2_HUMAN	Y	139;139;139;150	ENSP00000415558:C139Y;ENSP00000409787:C139Y;ENSP00000399587:C139Y;ENSP00000267569:C150Y	ENSP00000267569:C150Y	C	+	2	0	JDP2	75005855	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.458000	0.97634	1.139000	0.42245	0.467000	0.42956	TGC	JDP2	-	prints_Leuzip_Fos		0.612	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JDP2	HGNC	protein_coding	OTTHUMT00000415505.1	G	NM_130469		75936102	1	no_errors	ENST00000267569	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75936102	G	A	75936102	3	1	188	1	0	0	0	0	1	0	0	0	7967	1319	46	4	463	4	JDP2	14	75936102	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	40937458	75936102	31413438	47	36342										
TRIP11	9321	genome.wustl.edu	37	chr14	92488177	92488177	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	taagatggctgatttctaccTatatatttataatccaagtt	5	6	1	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr14:92488177T>C	ENST00000267622.4	-	4	686		c.e4-2			NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11						protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GATTTCTACCTATATATTTAT	0.348			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													48	52	51					14																	92488177		2201	4300	6501	SO:0001630	splice_region_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.313-2A>G	14.37:g.92488177T>C			B2RUT2|O14689|O15154|O95949	Splice_Site	SNP	-	e4-2	ENST00000267622.4	37	c.313-2	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	t	19.75	3.886228	0.72410	.	.	ENSG00000100815	ENST00000267622	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6747	0.68969	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIP11	91557930	1.000000	0.71417	0.991000	0.47740	0.895000	0.52256	7.538000	0.82048	1.848000	0.53677	0.533000	0.62120	.	TRIP11	-	-		0.348	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	T		Intron	92488177	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	92488177	T	C	92488177	5	2	188	1	0	0	0	0	0	0	1	0	16586	1536	53	5	5700	5	TRIP11	14	92488177	Splice_Site	SNP	T	TCGA-Q1-A73R-01A-11D-A33O-09	16552075	92488177	14861363	48	36343										
SERPINA11	256394	genome.wustl.edu	37	chr14	94914645	94914645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ctccataaagctccttgatgCtgtccaaatagtgctgccga	8	12	0	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr14:94914645C>T	ENST00000334708.3	-	2	531	c.467G>A	c.(466-468)aGc>aAc	p.S156N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	156					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTCCTTGATGCTGTCCAAATA	0.468																																																	0													160	169	166					14																	94914645		2203	4300	6503	SO:0001583	missense	256394			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"Serine (or cysteine) peptidase inhibitors"	19193	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.467G>A	14.37:g.94914645C>T	ENSP00000335024:p.Ser156Asn		B2RV07	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S156N	ENST00000334708.3	37	c.467	CCDS32149.1	14	.	.	.	.	.	.	.	.	.	.	C	4.326	0.059797	0.08339	.	.	ENSG00000186910	ENST00000334708	D	0.84298	-1.83	5.04	-0.869	0.10649	Serpin domain (3);	0.775582	0.12121	N	0.497688	T	0.65565	0.2703	N	0.12637	0.245	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.50346	-0.8839	10	0.36615	T	0.2	.	1.4694	0.02412	0.1247:0.2029:0.2939:0.3785	.	156	Q86U17	SPA11_HUMAN	N	156	ENSP00000335024:S156N	ENSP00000335024:S156N	S	-	2	0	SERPINA11	93984398	0.000000	0.05858	0.003000	0.11579	0.549000	0.35272	-0.011000	0.12721	-0.411000	0.07530	-0.150000	0.13652	AGC	SERPINA11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.468	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA11	HGNC	protein_coding	OTTHUMT00000413091.1	C	NM_001080451		94914645	-1	no_errors	ENST00000334708	ensembl	human	known	70_37	missense	SNP	0.028	T	T	94914645	C	T	94914645	3	4	188	1	0	0	0	0	1	0	0	0	14118	797	28	4	817	4	SERPINA11	14	94914645	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	2426468	94914645	12434895	49	36344										
PARP16	54956	genome.wustl.edu	37	chr15	65558985	65558985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gaaatgcatagattaggtctCgttctcctttggtctcataa	8	8	3	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr15:65558985C>A	ENST00000261888.6	-	3	879	c.434G>T	c.(433-435)cGa>cTa	p.R145L	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	145	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GATTAGGTCTCGTTCTCCTTT	0.493																																					NSCLC(50;885 1163 13509 21242 41978)												0													161	143	149					15																	65558985		2201	4299	6500	SO:0001583	missense	54956			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"Poly (ADP-ribose) polymerases"	26040	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 30"	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.434G>T	15.37:g.65558985C>A	ENSP00000261888:p.Arg145Leu		Q6PK64|Q9NX03	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R145L	ENST00000261888.6	37	c.434	CCDS10204.1	15	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612832	0.46631	.	.	ENSG00000138617	ENST00000261888	T	0.15372	2.43	5.58	5.58	0.84498	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.105242	0.64402	D	0.000008	T	0.22166	0.0534	M	0.66939	2.045	0.80722	D	1	P;P	0.52463	0.942;0.953	B;P	0.45138	0.34;0.471	T	0.03483	-1.1032	10	0.14252	T	0.57	-7.414	13.8848	0.63702	0.0:0.9246:0.0:0.0754	.	145;145	Q8N5Y8-3;Q8N5Y8	.;PAR16_HUMAN	L	145	ENSP00000261888:R145L	ENSP00000261888:R145L	R	-	2	0	PARP16	63346038	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.575000	0.60908	2.630000	0.89119	0.462000	0.41574	CGA	PARP16	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.493	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP16	HGNC	protein_coding	OTTHUMT00000256827.2	C	NM_017851		65558985	-1	no_errors	ENST00000261888	ensembl	human	known	70_37	missense	SNP	1.000	A	A	65558985	C	A	65558985	3	1	188	1	0	0	0	0	1	0	0	0	11484	884	31	3	553	3	PARP16	15	65558985	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09		65558985	36972407	50	36345										
ARID3B	10620	genome.wustl.edu	37	chr15	74887963	74887964	+	Frame_Shift_Ins	INS	-	-	C													0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ccaccaaggtgtgctgtttgINScccagaagcctgtggtccac							TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr15:74887963_74887964insC	ENST00000346246.5	+	9	1762_1763	c.1531_1532insC	c.(1531-1533)gccfs	p.A511fs		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	512	Interaction with ARID3A.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TGTGCTGTTTGCCCAGAAGCCT	0.604																																																	0																																										SO:0001589	frameshift_variant	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1534dupC	15.37:g.74887966_74887966dupC	ENSP00000343126:p.Ala511fs		O95443|Q59HC9|Q6P9C9	Frame_Shift_Ins	INS	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q512fs	ENST00000346246.5	37	c.1531_1532	CCDS10264.1	15																																																																																			ARID3B	-	NULL		0.604	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	HGNC	protein_coding	OTTHUMT00000280688.2	-	NM_006465		74887964	1	no_errors	ENST00000346246	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C	C	74887964	-	C	74887963	7	5	188	1	0	1	1	0	0	0	0	0	917	1319	46	0	1561	0	ARID3B	15	74887963	Frame_Shift_Ins	INS	-	TCGA-Q1-A73R-01A-11D-A33O-09	9328978	74887963	27643429	51	36346										
ACAN	176	genome.wustl.edu	37	chr15	89386651	89386651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	aagcagccaatgagtgccggCggctgggtgcccggctggcc	17	13	0	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr15:89386651C>T	ENST00000561243.1	+	5	823	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	ACAN_ENST00000558207.1_Missense_Mutation_p.R275W|ACAN_ENST00000352105.7_Missense_Mutation_p.R275W|ACAN_ENST00000439576.2_Missense_Mutation_p.R275W|ACAN_ENST00000559004.1_Missense_Mutation_p.R275W			P16112	PGCA_HUMAN	aggrecan	275	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.		R -> Q (in dbSNP:rs34949187).		carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGTGCCGGCGGCTGGGTGC	0.642																																																	0													17	20	19					15																	89386651		1929	4139	6068	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.823C>T	15.37:g.89386651C>T	ENSP00000453342:p.Arg275Trp		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.R275W	ENST00000561243.1	37	c.823	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983345	0.53827	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.09630	2.96;2.96	5.56	2.5	0.30297	.	0.000000	0.30593	N	0.009286	T	0.29817	0.0745	M	0.67397	2.05	0.31534	N	0.660868	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76071	0.987;0.987;0.873	T	0.33523	-0.9865	10	0.72032	D	0.01	-18.6464	14.3885	0.66963	0.6642:0.3358:0.0:0.0	.	275;275;275	E7ENV9;E7EX88;Q6PID9	.;.;.	W	275	ENSP00000387356:R275W;ENSP00000341615:R275W	ENSP00000268134:R275W	R	+	1	2	ACAN	87187655	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	2.086000	0.41643	0.245000	0.21373	0.650000	0.86243	CGG	ACAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.642	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	C	NM_001135		89386651	1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	0.996	T	T	89386651	C	T	89386651	3	4	188	1	0	0	0	0	1	0	0	0	117	759	27	2	841	2	ACAN	15	89386651	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	14498688	89386651	13144741	52	36347										
KIAA0556	23247	genome.wustl.edu	37	chr16	27781196	27781196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tgccaggccaagattgtccaCgtctccctggatggcctgtg	12	13	1	1	rs538934615		TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr16:27781196C>A	ENST00000261588.4	+	21	4009	c.3990C>A	c.(3988-3990)caC>caA	p.H1330Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1330						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGATTGTCCACGTCTCCCTGG	0.567																																																	0													144	144	144					16																	27781196		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3990C>A	16.37:g.27781196C>A	ENSP00000261588:p.His1330Gln		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.H1330Q	ENST00000261588.4	37	c.3990	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834498	0.50951	.	.	ENSG00000047578	ENST00000261588	T	0.12774	2.65	5.03	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	L	0.55743	1.74	0.40375	D	0.97938	D	0.76494	0.999	D	0.68943	0.961	T	0.01889	-1.1253	10	0.66056	D	0.02	.	6.8736	0.24135	0.0:0.6449:0.0:0.3551	.	1330	O60303	K0556_HUMAN	Q	1330	ENSP00000261588:H1330Q	ENSP00000261588:H1330Q	H	+	3	2	KIAA0556	27688697	0.983000	0.35010	0.997000	0.53966	0.774000	0.43823	0.156000	0.16382	1.094000	0.41399	0.655000	0.94253	CAC	KIAA0556	-	NULL		0.567	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27781196	1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	1.000	A	A	27781196	C	A	27781196	3	1	188	1	0	0	0	0	1	0	0	0	8203	535	19	2	4072	2	KIAA0556	16	27781196	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09		27781196	62573557	53	36348										
CDH11	1009	genome.wustl.edu	37	chr16	65038559	65038559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ccttaccctgcccacaagcaCggggtcaggcccggtgtact	11	16	1	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr16:65038559C>T	ENST00000268603.4	-	3	829	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000394156.3_Missense_Mutation_p.V72M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCACAAGCACGGGGTCAGGC	0.582			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													52	42	46					16																	65038559		2202	4300	6502	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.214G>A	16.37:g.65038559C>T	ENSP00000268603:p.Val72Met		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V72M	ENST00000268603.4	37	c.214	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897018	0.72639	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.00325	8.1;8.1	5.62	5.62	0.85841	Cadherin (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.00412	0.0013	N	0.25060	0.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.971	D	0.98740	1.0716	10	0.31617	T	0.26	.	18.6407	0.91394	0.0:1.0:0.0:0.0	.	72;72	P55287-2;P55287	.;CAD11_HUMAN	M	72	ENSP00000268603:V72M;ENSP00000377711:V72M	ENSP00000268603:V72M	V	-	1	0	CDH11	63596060	0.989000	0.36119	0.981000	0.43875	0.717000	0.41224	2.834000	0.48167	2.662000	0.90505	0.591000	0.81541	GTG	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like		0.582	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	C	NM_033664		65038559	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	missense	SNP	1.000	T	T	65038559	C	T	65038559	3	4	188	1	0	0	0	0	1	0	0	0	3102	536	19	2	2220	2	CDH11	16	65038559	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	37257363	65038559	25316194	54	36349										
DNAH9	1770	genome.wustl.edu	37	chr17	11778359	11778359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	agaacgagggcctcccagccGaccgcatgtccgtggagaat	13	13	0	2	rs370250741		TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr17:11778359G>A	ENST00000262442.4	+	53	10404	c.10336G>A	c.(10336-10338)Gac>Aac	p.D3446N	RP11-628O18.1_ENST00000579621.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.D3446N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3446	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTCCCAGCCGACCGCATGTC	0.567																																																	0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	98	87	91		10336	4.5	1	17		91	0,8600		0,0,4300	no	missense	DNAH9	NM_001372.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3446/4487	11778359	1,13005	2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10336G>A	17.37:g.11778359G>A	ENSP00000262442:p.Asp3446Asn		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D3446N	ENST00000262442.4	37	c.10336	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.326990	0.95708	2.27E-4	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.4;1.4	4.51	4.51	0.55191	.	0.139498	0.51477	D	0.000095	T	0.70176	0.3194	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80256	-0.1458	10	0.87932	D	0	.	17.4107	0.87485	0.0:0.0:1.0:0.0	.	3446	Q9NYC9	DYH9_HUMAN	N	3446;3446;2028	ENSP00000262442:D3446N;ENSP00000414874:D3446N	ENSP00000262442:D3446N	D	+	1	0	DNAH9	11719084	1.000000	0.71417	0.959000	0.39883	0.912000	0.54170	7.717000	0.84732	2.357000	0.79964	0.655000	0.94253	GAC	DNAH9	-	NULL		0.567	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11778359	1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	1.000	A	A	11778359	G	A	11778359	3	1	188	1	0	0	0	0	1	0	0	0	4618	1058	37	1	10546	1	DNAH9	17	11778359	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09		11778359	69416851	55	36350										
NUP85	79902	genome.wustl.edu	37	chr17	73206024	73206024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ttcaatgaatcccatggaatCtttctgggcctccagagaat	8	10	3	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr17:73206024C>G	ENST00000245544.4	+	3	305	c.234C>G	c.(232-234)atC>atG	p.I78M	NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.I78M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.I32M|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	78					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCCATGGAATCTTTCTGGGCC	0.423																																																	0													88	94	92					17																	73206024		2203	4300	6503	SO:0001583	missense	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.234C>G	17.37:g.73206024C>G	ENSP00000245544:p.Ile78Met		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup85	p.I78M	ENST00000245544.4	37	c.234	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601266	0.66445	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421	.	.	.	5.94	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72982	0.974;0.979	T	0.78259	-0.2273	9	0.66056	D	0.02	-27.1105	10.8729	0.46894	0.0:0.8925:0.0:0.1075	.	32;78	B4DMQ3;Q9BW27	.;NUP85_HUMAN	M	78;32;32	.	ENSP00000245544:I78M	I	+	3	3	NUP85	70717619	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.432000	0.34936	1.277000	0.44412	0.650000	0.86243	ATC	NUP85	-	pfam_Nucleoporin_Nup85		0.423	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	C	NM_024844		73206024	1	no_errors	ENST00000245544	ensembl	human	known	70_37	missense	SNP	1.000	G	G	73206024	C	G	73206024	3	3	188	1	0	0	0	0	1	0	0	0	10794	903	32	1	244	1	NUP85	17	73206024	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	61427665	73206024	7989186	56	36351										
UBE2O	63893	genome.wustl.edu	37	chr17	74394424	74394424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	acctaaagtcagggtggtcaGcaatgtcgtaaacactcaca	9	10	3	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr17:74394424G>T	ENST00000319380.7	-	12	2001	c.1937C>A	c.(1936-1938)gCt>gAt	p.A646D	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	646					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGGGTGGTCAGCAATGTCGTA	0.537											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													415	365	382					17																	74394424		2203	4300	6503	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1937C>A	17.37:g.74394424G>T	ENSP00000323687:p.Ala646Asp	1152	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.A646D	ENST00000319380.7	37	c.1937	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575942	0.86645	.	.	ENSG00000175931	ENST00000319380	T	0.73469	-0.75	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	L	0.53249	1.67	0.54753	D	0.999986	D	0.62365	0.991	P	0.55055	0.767	T	0.71331	-0.4625	10	0.14656	T	0.56	-12.6134	12.8974	0.58108	0.0742:0.0:0.9258:0.0	.	646	Q9C0C9	UBE2O_HUMAN	D	646	ENSP00000323687:A646D	ENSP00000323687:A646D	A	-	2	0	UBE2O	71906019	1.000000	0.71417	0.984000	0.44739	0.965000	0.64279	8.021000	0.88750	2.653000	0.90120	0.563000	0.77884	GCT	UBE2O	-	NULL		0.537	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	G	NM_022066		74394424	-1	no_errors	ENST00000319380	ensembl	human	known	70_37	missense	SNP	1.000	T	T	74394424	G	T	74394424	3	4	188	1	0	0	0	0	1	0	0	0	16899	971	34	4	1969	4	UBE2O	17	74394424	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	1188400	74394424	6800786	57	36352										
LMAN1	3998	genome.wustl.edu	37	chr18	57020469	57020469	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gtaataggtaatctttgctcGgacaggatagggtttgttgc	13	5	1	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr18:57020469G>A	ENST00000251047.5	-	5	1321	c.604C>T	c.(604-606)Cga>Tga	p.R202*	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	202	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATCTTTGCTCGGACAGGATAG	0.408																																																	0			GRCh37	CM990809	LMAN1	M							181	168	173					18																	57020469		2203	4300	6503	SO:0001587	stop_gained	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.604C>T	18.37:g.57020469G>A	ENSP00000251047:p.Arg202*		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Nonsense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily	p.R202*	ENST00000251047.5	37	c.604	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	g	37	6.252319	0.97412	.	.	ENSG00000074695	ENST00000251047	.	.	.	6.01	5.15	0.70609	.	0.052613	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9692	14.1709	0.65510	0.0:0.0:0.7269:0.2731	.	.	.	.	X	202	.	ENSP00000251047:R202X	R	-	1	2	LMAN1	55171449	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.218000	0.51192	1.565000	0.49641	-0.121000	0.15023	CGA	LMAN1	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf		0.408	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	G	NM_005570		57020469	-1	no_errors	ENST00000251047	ensembl	human	known	70_37	nonsense	SNP	0.997	A	A	57020469	G	A	57020469	4	1	188	1	0	0	0	0	0	1	0	0	8857	1124	39	2	964	2	LMAN1	18	57020469	Nonsense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09		57020469	21056779	58	36353										
PRAM1	84106	genome.wustl.edu	37	chr19	8563824	8563824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ggtcctggtgaggtccccaaGctcaggctgcggaggcttct	15	12	2	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr19:8563824G>T	ENST00000423345.4	-	2	1388	c.868C>A	c.(868-870)Ctt>Att	p.L290I	PRAM1_ENST00000255612.3_Missense_Mutation_p.L290I			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	338	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGGTCCCCAAGCTCAGGCTGC	0.647																																																	0													28	31	30					19																	8563824		2192	4297	6489	SO:0001583	missense	84106			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.868C>A	19.37:g.8563824G>T	ENSP00000408342:p.Leu290Ile		Q8N6W7	Missense_Mutation	SNP	superfamily_SH3_domain	p.L290I	ENST00000423345.4	37	c.868	CCDS45954.2	19	.	.	.	.	.	.	.	.	.	.	G	7.309	0.614623	0.14129	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14391	2.51;2.51	4.12	-2.13	0.07144	.	1.312210	0.05361	N	0.533604	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	B;B	0.30236	0.228;0.274	B;B	0.30179	0.083;0.112	T	0.38520	-0.9657	10	0.20046	T	0.44	.	5.8605	0.18745	0.4483:0.147:0.4047:0.0	.	290;338	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	I	290	ENSP00000255612:L290I;ENSP00000408342:L290I	ENSP00000255612:L290I	L	-	1	0	PRAM1	8469824	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.653000	0.05360	-0.501000	0.06605	-1.099000	0.02127	CTT	PRAM1	-	NULL		0.647	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	HGNC	protein_coding	OTTHUMT00000397040.3	G	NM_032152		8563824	-1	no_errors	ENST00000423345	ensembl	human	known	70_37	missense	SNP	0.000	T	T	8563824	G	T	8563824	3	4	188	1	0	0	0	0	1	0	0	0	12450	971	34	4	1177	4	PRAM1	19	8563824	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09		8563824	50565159	59	36354										
IER2	9592	genome.wustl.edu	37	chr19	13264405	13264405	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gacggcggggacgctggactGgtcccgagcaagaaagcccg	17	12	0	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr19:13264405G>T	ENST00000588173.1	+	1	1617	c.405G>T	c.(403-405)ctG>ctT	p.L135L	CTC-250I14.6_ENST00000586483.1_RNA|CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Silent_p.L135L|IER2_ENST00000292433.3_Silent_p.L135L			Q9BTL4	IER2_HUMAN	immediate early response 2	135						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			ACGCTGGACTGGTCCCGAGCA	0.682											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	15	15					19																	13264405		2180	4276	6456	SO:0001819	synonymous_variant	9592			M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.405G>T	19.37:g.13264405G>T		686	Q03827|Q2TAZ2	Silent	SNP	pfam_IER	p.L135	ENST00000588173.1	37	c.405	CCDS12295.1	19																																																																																			IER2	-	pfam_IER		0.682	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IER2	HGNC	protein_coding	OTTHUMT00000453033.1	G	NM_004907		13264405	1	no_errors	ENST00000292433	ensembl	human	known	70_37	silent	SNP	0.985	T	T	13264405	G	T	13264405	2	4	188	1	0	0	0	0	0	0	0	1	7525	1335	47	4		4	IER2	19	13264405	Silent	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	4700581	13264405	45864578	60	36355										
NWD1	284434	genome.wustl.edu	37	chr19	16870140	16870140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gcccagcaaggagctgctgcGcttcccgcccctgctgtggg	14	16	0	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr19:16870140G>A	ENST00000552788.1	+	5	1874	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	NWD1_ENST00000549814.1_Missense_Mutation_p.R625H|NWD1_ENST00000523826.1_Missense_Mutation_p.R419H|NWD1_ENST00000339803.6_Missense_Mutation_p.R490H|NWD1_ENST00000379808.3_Missense_Mutation_p.R625H|NWD1_ENST00000524140.2_Missense_Mutation_p.R625H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	625	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGCTGCTGCGCTTCCCGCCC	0.652																																																	0													60	46	51					19																	16870140		2203	4300	6503	SO:0001583	missense	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1874G>A	19.37:g.16870140G>A	ENSP00000447224:p.Arg625His		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R625H	ENST00000552788.1	37	c.1874		19	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470681	0.84533	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.64991	-0.13;-0.07;-0.13;-0.13;-0.09;-0.09	4.44	4.44	0.53790	.	0.136414	0.47852	D	0.000210	T	0.81465	0.4828	M	0.90198	3.095	0.46774	D	0.999193	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.996	D	0.85180	0.1003	10	0.72032	D	0.01	-25.0446	12.5617	0.56286	0.0:0.0:1.0:0.0	.	625;625;490	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	490;625;625;625;419;625;490	ENSP00000428579:R625H;ENSP00000447548:R625H;ENSP00000369136:R625H;ENSP00000428955:R419H;ENSP00000447224:R625H;ENSP00000340159:R490H	ENSP00000340159:R490H	R	+	2	0	NWD1	16731140	1.000000	0.71417	0.934000	0.37439	0.791000	0.44710	6.038000	0.70964	2.044000	0.60594	0.542000	0.68232	CGC	NWD1	-	NULL		0.652	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	G	NM_001007525		16870140	1	no_errors	ENST00000379808	ensembl	human	known	70_37	missense	SNP	0.976	A	A	16870140	G	A	16870140	3	1	188	1	0	0	0	0	1	0	0	0	10805	1087	38	2	1479	2	NWD1	19	16870140	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	3605735	16870140	42258843	61	36356										
PSG6	5675	genome.wustl.edu	37	chr19	43411950	43411950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	acaggtgaaggctaacacatCcttcttctccctggggttta	9	11	2	1	rs371665225		TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr19:43411950C>G	ENST00000292125.2	-	4	807	c.763G>C	c.(763-765)Gat>Cat	p.D255H	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.D255H	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	255	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GCTAACACATCCTTCTTCTCC	0.502																																																	0													304	286	292					19																	43411950		2201	4298	6499	SO:0001583	missense	5675				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.763G>C	19.37:g.43411950C>G	ENSP00000292125:p.Asp255His		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D255H	ENST00000292125.2	37	c.763	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	N	11.00	1.508978	0.27036	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.10668	2.85;2.85	1.42	1.42	0.22433	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38558	0.1045	M	0.94142	3.5	0.19300	N	0.999977	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.992	T	0.09271	-1.0682	9	0.72032	D	0.01	.	6.2927	0.21069	0.0:1.0:0.0:0.0	.	255;255	Q00889;Q00889-2	PSG6_HUMAN;.	H	255	ENSP00000187910:D255H;ENSP00000292125:D255H	ENSP00000187910:D255H	D	-	1	0	PSG6	48103790	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	-0.309000	0.08145	0.792000	0.33850	0.134000	0.15878	GAT	PSG6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.502	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	C	NM_002782		43411950	-1	no_errors	ENST00000292125	ensembl	human	known	70_37	missense	SNP	0.006	G	G	43411950	C	G	43411950	3	3	188	1	0	0	0	0	1	0	0	0	12686	855	30	1	595	1	PSG6	19	43411950	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	26541810	43411950	15717033	62	36357										
SYT3	84258	genome.wustl.edu	37	chr19	51128817	51128817	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	atcagggaggccttcacgtaGgggtctgggaacagcaatga	15	8	3	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chr19:51128817G>T	ENST00000338916.4	-	6	2040	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P	SYT3_ENST00000593901.1_Silent_p.P469P|SYT3_ENST00000544769.1_Silent_p.P469P|SYT3_ENST00000600079.1_Silent_p.P469P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	469	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTTCACGTAGGGGTCTGGGA	0.597																																																	0													43	41	42					19																	51128817		2203	4300	6503	SO:0001819	synonymous_variant	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1407C>A	19.37:g.51128817G>T			Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.P469	ENST00000338916.4	37	c.1407	CCDS12798.1	19																																																																																			SYT3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.597	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	G	NM_032298		51128817	-1	no_errors	ENST00000338916	ensembl	human	known	70_37	silent	SNP	1.000	T	T	51128817	G	T	51128817	2	4	188	1	0	0	0	0	0	0	0	1	15505	987	35	4		4	SYT3	19	51128817	Silent	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	7716867	51128817	8000166	63	36358										
RPS6KA3	6197	genome.wustl.edu	37	chrX	20179862	20179862	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	ctggtgtatcatcaggaccaTttgcaaatggagtgtaacta	10	7	2	0			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chrX:20179862T>A	ENST00000379565.3	-	20	2066	c.1859A>T	c.(1858-1860)aAt>aTt	p.N620I	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.N592I|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.N590I|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.N591I	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	620	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	ATCAGGACCATTTGCAAATGG	0.318																																																	0													107	83	91					X																	20179862		2203	4300	6503	SO:0001583	missense	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1859A>T	X.37:g.20179862T>A	ENSP00000368884:p.Asn620Ile		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N620I	ENST00000379565.3	37	c.1859	CCDS14197.1	X	.	.	.	.	.	.	.	.	.	.	T	16.29	3.080433	0.55753	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	L	0.31845	0.965	0.80722	D	1	B;B;D;B	0.69078	0.129;0.049;0.997;0.216	B;B;D;B	0.76071	0.191;0.077;0.987;0.191	T	0.74315	-0.3705	10	0.44086	T	0.13	.	15.2089	0.73202	0.0:0.0:0.0:1.0	.	591;590;592;620	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	I	620;592;590;591	ENSP00000368884:N620I;ENSP00000440220:N592I;ENSP00000368865:N590I;ENSP00000444837:N591I	ENSP00000368865:N590I	N	-	2	0	RPS6KA3	20089783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	1.975000	0.57531	0.417000	0.27973	AAT	RPS6KA3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.318	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	T	NM_004586		20179862	-1	no_errors	ENST00000379565	ensembl	human	known	70_37	missense	SNP	1.000	A	A	20179862	T	A	20179862	3	1	188	1	0	0	0	0	1	0	0	0	13682	1493	52	5	375	5	RPS6KA3	23	20179862	Missense_Mutation	SNP	T	TCGA-Q1-A73R-01A-11D-A33O-09		20179862	135090698	64	36359										
BCOR	54880	genome.wustl.edu	37	chrX	39931728	39931728	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tttgccagcttagatggcttCggtttcagaactttgccatc	9	10	1	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chrX:39931728C>T	ENST00000378444.4	-	4	3099	c.2871G>A	c.(2869-2871)ccG>ccA	p.P957P	BCOR_ENST00000378455.4_Silent_p.P957P|BCOR_ENST00000397354.3_Silent_p.P957P|BCOR_ENST00000342274.4_Silent_p.P957P	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	957					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAGATGGCTTCGGTTTCAGAA	0.502			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													84	56	65					X																	39931728		2201	4300	6501	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2871G>A	X.37:g.39931728C>T			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P957	ENST00000378444.4	37	c.2871	CCDS48093.1	X																																																																																			BCOR	-	NULL		0.502	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	C	NM_017745		39931728	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	silent	SNP	0.992	T	T	39931728	C	T	39931728	2	4	188	1	0	0	0	0	0	0	0	1	1387	871	31	1		1	BCOR	23	39931728	Silent	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	19751866	39931728	115338832	65	36360										
BCOR	54880	genome.wustl.edu	37	chrX	39933165	39933165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tctttcggaatctcacttccGgagagcactaagccacttcc	7	14	2	1	rs371048617		TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chrX:39933165G>A	ENST00000378444.4	-	4	1662	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	BCOR_ENST00000378455.4_Silent_p.S478S|BCOR_ENST00000397354.3_Silent_p.S478S|BCOR_ENST00000342274.4_Silent_p.S478S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	478					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCTCACTTCCGGAGAGCACTA	0.498			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						G|||	1	0.000264901	8e-04	0	3775	,	,		14151	0		0	False		,,,				2504	0							Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0								G	,,,	1,3832		0,0,1,1631,570	81	73	75		1434,1434,1434,1434	-3.5	0.8	X		75	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	,,,	0,0,1,4059,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	,,,	478/1722,478/1704,478/1756,478/1722	39933165	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1434C>T	X.37:g.39933165G>A			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S478	ENST00000378444.4	37	c.1434	CCDS48093.1	X																																																																																			BCOR	-	NULL		0.498	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39933165	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	silent	SNP	0.315	A	A	39933165	G	A	39933165	2	1	188	1	0	0	0	0	0	0	0	1	1387	1103	39	2		2	BCOR	23	39933165	Silent	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	1437	39933165	115337395	66	36361										
NKRF	55922	genome.wustl.edu	37	chrX	118724034	118724034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	tgtgtcgttcagcgtgcacaCgggatttgaagaattctcat	11	8	2	2			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chrX:118724034C>T	ENST00000371527.1	-	2	2006	c.1354G>A	c.(1354-1356)Gtg>Atg	p.V452M	NKRF_ENST00000304449.5_Missense_Mutation_p.V452M|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.V467M	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	452					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCGTGCACACGGGATTTGAA	0.423																																																	0													104	97	99					X																	118724034		2203	4300	6503	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1354G>A	X.37:g.118724034C>T	ENSP00000360582:p.Val452Met		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd	p.V467M	ENST00000371527.1	37	c.1399	CCDS35375.1	X	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730702	0.48939	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.78816	-1.21;-1.21;-1.21	5.49	5.49	0.81192	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.056607	0.64402	D	0.000001	D	0.84511	0.5488	L	0.59436	1.845	0.50313	D	0.999864	D	0.89917	1.0	P	0.59825	0.864	D	0.86135	0.1577	10	0.72032	D	0.01	-12.7434	17.3043	0.87191	0.0:1.0:0.0:0.0	.	452	O15226	NKRF_HUMAN	M	452;452;467	ENSP00000360582:V452M;ENSP00000304803:V452M;ENSP00000442308:V467M	ENSP00000304803:V452M	V	-	1	0	NKRF	118608062	1.000000	0.71417	0.987000	0.45799	0.837000	0.47467	5.711000	0.68400	2.298000	0.77334	0.600000	0.82982	GTG	NKRF	-	smart_Ds-RNA-bd		0.423	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1	C	NM_017544		118724034	-1	no_errors	ENST00000542113	ensembl	human	known	70_37	missense	SNP	0.994	T	T	118724034	C	T	118724034	3	4	188	1	0	0	0	0	1	0	0	0	10471	536	19	2	722	2	NKRF	23	118724034	Missense_Mutation	SNP	C	TCGA-Q1-A73R-01A-11D-A33O-09	78790869	118724034	36546526	67	36362										
G6PD	2539	genome.wustl.edu	37	chrX	153763558	153763558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	4	0.816525743081556	0.824466571834993	2.61081081081081	0.671351351351351	0.545454545454546	0.766798418972333	0	gccagccacataggagttgcGggcaaagaagtcctccagct	12	12	0	1			TCGA-Q1-A73R-01A-11D-A33O-09	TCGA-Q1-A73R-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	88f672e6-0cc0-477f-894e-6d3629f0fcf0	ba1d4010-a849-4c5f-a482-29e1898f03f5	g.chrX:153763558G>A	ENST00000393564.2	-	5	422	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	G6PD_ENST00000369620.2_Missense_Mutation_p.R104C|G6PD_ENST00000393562.2_Missense_Mutation_p.R134C|G6PD_ENST00000497281.1_5'UTR	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	104					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGGAGTTGCGGGCAAAGAAG	0.597																																																	0													113	67	83					X																	153763558		2203	4300	6503	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.310C>T	X.37:g.153763558G>A	ENSP00000377194:p.Arg104Cys		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH	p.R104C	ENST00000393564.2	37	c.310	CCDS44023.1	X	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980704	0.18812	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	5.81	4.95	0.65309	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.053150	0.85682	D	0.000000	D	0.96892	0.8985	M	0.81942	2.565	0.80722	D	1	B;B	0.30634	0.221;0.288	B;B	0.21360	0.034;0.033	D	0.95342	0.8439	10	0.38643	T	0.18	.	11.8017	0.52130	0.0868:0.0:0.9132:0.0	.	104;134	P11413;P11413-3	G6PD_HUMAN;.	C	134;104;104;104;104;104;104	ENSP00000377192:R134C;ENSP00000377194:R104C;ENSP00000358633:R104C;ENSP00000395599:R104C;ENSP00000400648:R104C;ENSP00000394690:R104C	ENSP00000291567:R104C	R	-	1	0	G6PD	153416752	0.999000	0.42202	0.997000	0.53966	0.011000	0.07611	4.821000	0.62679	1.212000	0.43366	-0.197000	0.12766	CGC	G6PD	-	pfam_G6P_DH_NAD-bd,pirsf_G6P_DH		0.597	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	G6PD	HGNC	protein_coding	OTTHUMT00000061170.3	G	NM_000402		153763558	-1	no_errors	ENST00000369620	ensembl	human	known	70_37	missense	SNP	0.998	A	A	153763558	G	A	153763558	3	1	188	1	0	0	0	0	1	0	0	0	6164	1116	39	2	1273	2	G6PD	23	153763558	Missense_Mutation	SNP	G	TCGA-Q1-A73R-01A-11D-A33O-09	35039524	153763558	1507002	68	36363										
C1orf64	149563	genome.wustl.edu	37	chr1	16332652	16332652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ggatgccttgcccaggccagGgccaccctgccgctctgcag	13	17	1	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:16332652G>T	ENST00000329454.2	+	2	389	c.321G>T	c.(319-321)agG>agT	p.R107S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	107										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGCCAGGGCCACCCTGC	0.642																																																	0													46	47	47					1																	16332652		2203	4300	6503	SO:0001583	missense	149563			AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"ER-related factor"					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.321G>T	1.37:g.16332652G>T	ENSP00000332162:p.Arg107Ser		B3KXI9	Missense_Mutation	SNP	NULL	p.R107S	ENST00000329454.2	37	c.321	CCDS166.1	1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456010	0.63401	.	.	ENSG00000183888	ENST00000329454	T	0.49139	0.79	5.15	4.22	0.49857	.	1.177270	0.06100	N	0.665215	T	0.36110	0.0955	N	0.19112	0.55	0.09310	N	1	B	0.28636	0.218	B	0.28011	0.085	T	0.14671	-1.0464	10	0.41790	T	0.15	-0.4521	9.9603	0.41693	0.097:0.0:0.903:0.0	.	107	Q8NEQ6	CA064_HUMAN	S	107	ENSP00000332162:R107S	ENSP00000332162:R107S	R	+	3	2	C1orf64	16205239	0.002000	0.14202	0.010000	0.14722	0.020000	0.10135	0.993000	0.29680	2.417000	0.82017	0.563000	0.77884	AGG	C1orf64	-	NULL		0.642	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf64	HGNC	protein_coding	OTTHUMT00000026317.1	G	NM_178840		16332652	1	no_errors	ENST00000329454	ensembl	human	known	70_37	missense	SNP	0.003	T	T	16332652	G	T	16332652	3	4	189	1	0	0	0	0	1	0	0	0	2059	1223	43	4	327	4	C1orf64	1	16332652	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09		16332652	232917969	1	36364										
COL24A1	255631	genome.wustl.edu	37	chr1	86499587	86499587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gaccagcagggcctctgtctCcaaagtcacctggaaaaccc	9	15	3	0	rs184891690	byFrequency	TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:86499587C>T	ENST00000370571.2	-	13	2336	c.1970G>A	c.(1969-1971)gGa>gAa	p.G657E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G657E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	657					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCCTCTGTCTCCAAAGTCACC	0.388																																																	0													65	67	66					1																	86499587		1927	4126	6053	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1970G>A	1.37:g.86499587C>T	ENSP00000359603:p.Gly657Glu		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G657E	ENST00000370571.2	37	c.1970	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988940	0.53934	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99532	-6.1;-6.1	5.36	5.36	0.76844	.	0.000000	0.38720	N	0.001589	D	0.99785	0.9910	H	0.96208	3.785	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.97089	0.9789	10	0.87932	D	0	.	15.7911	0.78364	0.0:1.0:0.0:0.0	.	657	Q17RW2	COOA1_HUMAN	E	657	ENSP00000359603:G657E;ENSP00000392531:G657E	ENSP00000359603:G657E	G	-	2	0	COL24A1	86272175	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.010000	0.57117	2.489000	0.83994	0.655000	0.94253	GGA	COL24A1	-	NULL		0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86499587	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86499587	C	T	86499587	3	4	189	1	0	0	0	0	1	0	0	0	3688	855	30	1	3366	1	COL24A1	1	86499587	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09	70166935	86499587	162751034	2	36365										
PKN2	5586	genome.wustl.edu	37	chr1	89271180	89271180	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gtttttttcaacatctacagGcaaaacatttctcagagctc	5	10	3	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:89271180G>T	ENST00000370521.3	+	11	1861	c.1502G>T	c.(1501-1503)gGc>gTc	p.G501V	PKN2_ENST00000544045.1_Splice_Site_p.G175V|PKN2_ENST00000370513.5_Splice_Site_p.G453V|PKN2_ENST00000316005.7_Splice_Site_p.G501V|PKN2_ENST00000370505.3_Splice_Site_p.G344V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	501					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACATCTACAGGCAAAACATTT	0.313																																																	0													52	48	49					1																	89271180		1822	4074	5896	SO:0001630	splice_region_variant	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1502-1G>T	1.37:g.89271180G>T			B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.G501V	ENST00000370521.3	37	c.1502	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016737	0.75161	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.81	5.81	0.92471	.	0.000000	0.45867	U	0.000325	T	0.68329	0.2989	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	T	0.63651	-0.6589	9	.	.	.	.	20.0695	0.97716	0.0:0.0:1.0:0.0	.	485;453;501;501	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	V	501;501;344;453;175	ENSP00000359552:G501V;ENSP00000317851:G501V;ENSP00000359536:G344V;ENSP00000359544:G453V;ENSP00000439643:G175V	.	G	+	2	0	PKN2	89043768	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.230000	0.95299	2.750000	0.94351	0.591000	0.81541	GGC	PKN2	-	NULL		0.313	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	G	NM_006256	Missense_Mutation	89271180	1	no_errors	ENST00000370521	ensembl	human	known	70_37	missense	SNP	1.000	T	T	89271180	G	T	89271180	5	4	189	1	0	0	0	0	0	0	1	0	12004	1217	42	4	1544	4	PKN2	1	89271180	Splice_Site	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	2771593	89271180	159979441	3	36366										
MCL1	4170	genome.wustl.edu	37	chr1	150551971	150551971	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gcccccccacagtagaggttGagtccgattaccgcgtttct	10	14	1	2			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:150551971G>T	ENST00000369026.2	-	1	95	c.36C>A	c.(34-36)ctC>ctA	p.L12L	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Silent_p.L12L	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	12					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGTAGAGGTTGAGTCCGATTA	0.667																																																	0													9	14	12					1																	150551971		1312	2676	3988	SO:0001819	synonymous_variant	4170			BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"myeloid cell leukemia sequence 1 (BCL2-related)"			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.36C>A	1.37:g.150551971G>T			B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam	p.L12	ENST00000369026.2	37	c.36	CCDS957.1	1																																																																																			MCL1	-	NULL		0.667	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCL1	HGNC	protein_coding	OTTHUMT00000084402.1	G	NM_021960		150551971	-1	no_errors	ENST00000369026	ensembl	human	known	70_37	silent	SNP	0.947	T	T	150551971	G	T	150551971	2	4	189	1	0	0	0	0	0	0	0	1	9407	1277	45	3		3	MCL1	1	150551971	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	61280791	150551971	98698650	4	36367										
TMEM63A	9725	genome.wustl.edu	37	chr1	226065245	226065245	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	tccctgatggacactgccttGgactgccacagctccaggaa	10	14	0	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:226065245G>T	ENST00000366835.3	-	3	306	c.36C>A	c.(34-36)tcC>tcA	p.S12S		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	12					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ACACTGCCTTGGACTGCCACA	0.592											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63	54	57					1																	226065245		2203	4300	6503	SO:0001819	synonymous_variant	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.36C>A	1.37:g.226065245G>T		2309	Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	pfam_DUF221	p.S12	ENST00000366835.3	37	c.36	CCDS31042.1	1																																																																																			TMEM63A	-	NULL		0.592	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	G	NM_014698		226065245	-1	no_errors	ENST00000366835	ensembl	human	known	70_37	silent	SNP	0.004	T	T	226065245	G	T	226065245	2	4	189	1	0	0	0	0	0	0	0	1	16220	1335	47	4		4	TMEM63A	1	226065245	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	75513274	226065245	23185376	5	36368										
GPR17	2840	genome.wustl.edu	37	chr2	128409331	128409331	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	tgccaagtcagagctgtgagCggggggcgccgtccaggccg	18	12	1	2	rs372407392		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr2:128409331C>T	ENST00000272644.3	+	0	1180				LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_3'UTR|LIMS2_ENST00000409455.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17						chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GAGCTGTGAGCGGGGGGCGCC	0.627																																																	0								C	,,,,,,,	1,4405		0,1,2202	26	34	31		,,,,,,,	-0.1	0.4	2		31	0,8600		0,0,4300	no	intron,intron,intron,utr-3,utr-3,utr-3,utr-3,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,	,,,,,,,	128409331	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	2840				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.*2C>T	2.37:g.128409331C>T			A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	RNA	SNP	-	NULL	ENST00000272644.3	37	NULL	CCDS2148.1	2																																																																																			GPR17	-	-		0.627	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR17	HGNC	protein_coding	OTTHUMT00000254390.1	C			128409331	1	no_errors	ENST00000486700	ensembl	human	known	70_37	rna	SNP	0.230	T	T	128409331	C	T	128409331	1	4	189	0	1	0	0	0	0	0	0	0	6686	783	27	2		2	GPR17	2	128409331	3'UTR	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09		128409331	114790042	6	36369										
KCNH7	90134	genome.wustl.edu	37	chr2	163393474	163393474	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	taatattgggtttaccctctCtggggtggcagcgttttcat	11	8	2	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr2:163393474C>T	ENST00000332142.5	-	3	523	c.424G>A	c.(424-426)Gag>Aag	p.E142K	KCNH7_ENST00000328032.4_Missense_Mutation_p.E142K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	142	PAC.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTTACCCTCTCTGGGGTGGCA	0.378																																					GBM(196;1492 2208 17507 24132 45496)												0													210	196	201					2																	163393474		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.424G>A	2.37:g.163393474C>T	ENSP00000331727:p.Glu142Lys		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.E142K	ENST00000332142.5	37	c.424	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652741	0.29336	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99545	-5.0;-6.13	5.56	3.75	0.43078	.	0.048847	0.85682	D	0.000000	D	0.98362	0.9456	L	0.43152	1.355	0.49213	D	0.999762	B;B	0.18166	0.002;0.026	B;B	0.16289	0.002;0.015	D	0.97467	1.0038	10	0.28530	T	0.3	.	16.2196	0.82251	0.0:0.7487:0.2513:0.0	.	142;142	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	K	142	ENSP00000331727:E142K;ENSP00000333781:E142K	ENSP00000333781:E142K	E	-	1	0	KCNH7	163101720	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	3.837000	0.55820	0.701000	0.31803	-0.264000	0.10439	GAG	KCNH7	-	NULL		0.378	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	C	NM_033272		163393474	-1	no_errors	ENST00000332142	ensembl	human	known	70_37	missense	SNP	1.000	T	T	163393474	C	T	163393474	3	4	189	1	0	0	0	0	1	0	0	0	8057	922	32	1	3288	1	KCNH7	2	163393474	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09	34984143	163393474	79805899	7	36370										
INPP5D	3635	genome.wustl.edu	37	chr2	234104109	234104109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ctgaagagcctcaccagccaCgaccccatgaagcagtggga	11	14	1	3			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr2:234104109C>T	ENST00000359570.5	+	26	2625	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	INPP5D_ENST00000455936.2_Silent_p.H639H|INPP5D_ENST00000450745.1_Silent_p.H639H			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	887					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCACCAGCCACGACCCCATGA	0.557																																					NSCLC(82;1215 1426 16163 20348 41018)												0													68	69	69					2																	234104109		1941	4129	6070	SO:0001819	synonymous_variant	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2625C>T	2.37:g.234104109C>T			O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.H875	ENST00000359570.5	37	c.2625		2																																																																																			INPP5D	-	NULL		0.557	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		C	NM_001017915		234104109	1	no_errors	ENST00000359570	ensembl	human	known	70_37	silent	SNP	0.118	T	T	234104109	C	T	234104109	2	4	189	1	0	0	0	0	0	0	0	1	7776	535	19	2		2	INPP5D	2	234104109	Silent	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09	70710635	234104109	9095264	8	36371										
ANO7	50636	genome.wustl.edu	37	chr2	242148707	242148707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ctccctgccacaggccggccGgctgttcgaccacggcggca	13	18	0	0	rs373704127		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr2:242148707G>A	ENST00000274979.8	+	12	1350	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	ANO7_ENST00000402430.3_Missense_Mutation_p.R415Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	416					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAGGCCGGCCGGCTGTTCGAC	0.642																																																	0								G	GLN/ARG	0,4350		0,0,2175	14	14	14		1247	2.4	1	2		14	1,8485		0,1,4242	no	missense	ANO7	NM_001001891.3	43	0,1,6417	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	416/934	242148707	1,12835	2175	4243	6418	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1247G>A	2.37:g.242148707G>A	ENSP00000274979:p.Arg416Gln		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.R416Q	ENST00000274979.8	37	c.1247	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	G	9.438	1.087431	0.20390	0.0	1.18E-4	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.61274	0.12;0.12	3.33	2.42	0.29668	.	0.942968	0.08797	N	0.892370	T	0.40767	0.1130	L	0.38175	1.15	0.25217	N	0.989931	P	0.42456	0.78	B	0.32677	0.15	T	0.23190	-1.0195	10	0.37606	T	0.19	.	6.8975	0.24265	0.2344:0.0:0.7656:0.0	.	416	Q6IWH7	ANO7_HUMAN	Q	416;415	ENSP00000274979:R416Q;ENSP00000385418:R415Q	ENSP00000274979:R416Q	R	+	2	0	ANO7	241797380	0.000000	0.05858	0.997000	0.53966	0.420000	0.31355	-0.029000	0.12329	1.399000	0.46721	0.313000	0.20887	CGG	ANO7	-	pfam_Anoctamin		0.642	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	G	NM_001001891		242148707	1	no_errors	ENST00000274979	ensembl	human	known	70_37	missense	SNP	0.957	A	A	242148707	G	A	242148707	3	1	189	1	0	0	0	0	1	0	0	0	702	1116	39	2	1365	2	ANO7	2	242148707	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	8044598	242148707	1050666	9	36372										
SETMAR	6419	genome.wustl.edu	37	chr3	4358097	4358097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	aagatgaggagcgtagtggcCggccatcagaagttgacaac	14	8	1	4			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:4358097C>T	ENST00000358065.4	+	3	1289	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	SETMAR_ENST00000425863.1_Missense_Mutation_p.R269W|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	408	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		gcgtagtggccggccatcaga	0.483								Chromatin Structure																																									0													11	11	11					3																	4358097		2195	4287	6482	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1222C>T	3.37:g.4358097C>T	ENSP00000373354:p.Arg408Trp		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R408W	ENST00000358065.4	37	c.1222	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018712	0.35606	.	.	ENSG00000170364	ENST00000358065;ENST00000425863;ENST00000358950	T;T;T	0.30714	1.52;1.52;1.52	0.235	0.235	0.15431	.	2.115320	0.03417	N	0.205753	T	0.36276	0.0961	L	0.40543	1.245	0.22479	N	0.999068	B;B;D;B	0.64830	0.031;0.006;0.994;0.011	B;B;P;B	0.52066	0.016;0.005;0.689;0.008	T	0.29579	-1.0007	9	0.87932	D	0	.	.	.	.	.	152;269;395;153	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	W	408;269;172	ENSP00000373354:R408W;ENSP00000403145:R269W;ENSP00000369673:R172W	ENSP00000373354:R408W	R	+	1	2	SETMAR	4333097	0.917000	0.31117	0.839000	0.33178	0.845000	0.48019	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	CGG	SETMAR	-	pfam_Transposase_14,superfamily_Homeodomain-like		0.483	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	C	NM_006515		4358097	1	no_errors	ENST00000358065	ensembl	human	known	70_37	missense	SNP	0.867	T	T	4358097	C	T	4358097	3	4	189	1	0	0	0	0	1	0	0	0	14170	643	23	2	1232	2	SETMAR	3	4358097	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09		4358097	193664333	10	36373										
SLC6A11	6538	genome.wustl.edu	37	chr3	10976837	10976837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	tcctccatgctctgcatcccGctctggatctgcatcacagt	7	16	4	0	rs138273152		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:10976837G>A	ENST00000254488.2	+	13	1764	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	566					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTGCATCCCGCTCTGGATCT	0.607																																																	0								G		4,4402	8.1+/-20.4	0,4,2199	162	145	150		1698	-8.4	0.4	3	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	SLC6A11	NM_014229.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		566/633	10976837	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1698G>A	3.37:g.10976837G>A			B2R6U6|Q8IYC9	Silent	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.P566	ENST00000254488.2	37	c.1698	CCDS2602.1	3																																																																																			SLC6A11	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.607	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	G	NM_014229		10976837	1	no_errors	ENST00000254488	ensembl	human	known	70_37	silent	SNP	0.001	A	A	10976837	G	A	10976837	2	1	189	1	0	0	0	0	0	0	0	1	14704	1074	38	2		2	SLC6A11	3	10976837	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	6618740	10976837	187045593	11	36374										
NR2C2	7182	genome.wustl.edu	37	chr3	15064801	15064801	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	atctatatccggaaagacctGagaagtcccctgatagctac	8	11	1	3			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:15064801G>T	ENST00000425241.1	+	6	1013	c.651G>T	c.(649-651)ctG>ctT	p.L217L	NR2C2_ENST00000323373.6_Silent_p.L236L|NR2C2_ENST00000393102.3_Silent_p.L217L|NR2C2_ENST00000406272.2_Silent_p.L217L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	217					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAAAGACCTGAGAAGTCCCC	0.493																																																	0													130	125	127					3																	15064801		2203	4300	6503	SO:0001819	synonymous_variant	7182			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.651G>T	3.37:g.15064801G>T			A8K3H5|B6ZGT8|P55092	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.L236	ENST00000425241.1	37	c.708		3																																																																																			NR2C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.493	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	G	NM_003298		15064801	1	no_errors	ENST00000323373	ensembl	human	known	70_37	silent	SNP	0.996	T	T	15064801	G	T	15064801	2	4	189	1	0	0	0	0	0	0	0	1	10647	1277	45	3		3	NR2C2	3	15064801	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	4087964	15064801	182957629	12	36375										
XIRP1	165904	genome.wustl.edu	37	chr3	39230622	39230622	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ggcctctcgtgttctccaatGgcatccagtctccagttctc	8	15	4	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:39230622G>T	ENST00000340369.3	-	2	543	c.315C>A	c.(313-315)gcC>gcA	p.A105A	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.A105A	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	105					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTCTCCAATGGCATCCAGTC	0.602																																																	0													72	72	72					3																	39230622		2203	4300	6503	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.315C>A	3.37:g.39230622G>T			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.A105	ENST00000340369.3	37	c.315	CCDS2683.1	3																																																																																			XIRP1	-	NULL		0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	G	XM_093522		39230622	-1	no_errors	ENST00000340369	ensembl	human	known	70_37	silent	SNP	1.000	T	T	39230622	G	T	39230622	2	4	189	1	0	0	0	0	0	0	0	1	17460	1335	47	4		4	XIRP1	3	39230622	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	24165821	39230622	158791808	13	36376										
FSTL1	11167	genome.wustl.edu	37	chr3	120128391	120128391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	tggattaccttaaaatacttGtctaggatttcactgtagtt	7	6	2	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:120128391G>T	ENST00000295633.3	-	6	806	c.450C>A	c.(448-450)gaC>gaA	p.D150E	FSTL1_ENST00000424703.2_Missense_Mutation_p.D115E	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	150	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TAAAATACTTGTCTAGGATTT	0.502																																																	0													114	105	108					3																	120128391		2203	4300	6503	SO:0001583	missense	11167			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.450C>A	3.37:g.120128391G>T	ENSP00000295633:p.Asp150Glu		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pfscan_EF_HAND_2	p.D150E	ENST00000295633.3	37	c.450	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	G	5.111	0.206068	0.09704	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703	T;T	0.06142	3.34;3.34	5.24	3.45	0.39498	EF-hand-like domain (1);	0.157809	0.56097	D	0.000027	T	0.05547	0.0146	L	0.46157	1.445	0.33437	D	0.581851	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.30563	-0.9974	10	0.02654	T	1	-35.7293	10.6184	0.45465	0.1544:0.0:0.8456:0.0	.	115;150	B4DTT5;Q12841	.;FSTL1_HUMAN	E	150;93;115	ENSP00000295633:D150E;ENSP00000394355:D115E	ENSP00000295633:D150E	D	-	3	2	FSTL1	121611081	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.998000	0.49465	0.612000	0.30071	0.655000	0.94253	GAC	FSTL1	-	NULL		0.502	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	G	NM_007085		120128391	-1	no_errors	ENST00000295633	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120128391	G	T	120128391	3	4	189	1	0	0	0	0	1	0	0	0	6095	1368	48	4	500	4	FSTL1	3	120128391	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	80897769	120128391	77894039	14	36377										
UROC1	131669	genome.wustl.edu	37	chr3	126201258	126201258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gcagtgtcaccaccaaggtgCtgttctcctgcatggtctgg	12	12	3	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:126201258C>T	ENST00000290868.2	-	20	2014	c.1961G>A	c.(1960-1962)aGc>aAc	p.S654N	UROC1_ENST00000383579.3_Missense_Mutation_p.S714N	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	654					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CACCAAGGTGCTGTTCTCCTG	0.647																																																	0													81	61	68					3																	126201258		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1961G>A	3.37:g.126201258C>T	ENSP00000290868:p.Ser654Asn		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.S654N	ENST00000290868.2	37	c.1961	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573270	0.03882	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.57907	0.37;0.37	4.56	-0.723	0.11181	Urocanase domain (1);	1.865810	0.02603	N	0.101216	T	0.39517	0.1081	L	0.28344	0.845	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.17979	0.02;0.005	T	0.21999	-1.0229	10	0.38643	T	0.18	-15.1336	5.8063	0.18442	0.0:0.5063:0.1516:0.3421	.	714;654	E9PE13;Q96N76	.;HUTU_HUMAN	N	654;714	ENSP00000290868:S654N;ENSP00000373073:S714N	ENSP00000290868:S654N	S	-	2	0	UROC1	127683948	0.000000	0.05858	0.030000	0.17652	0.103000	0.19146	-0.738000	0.04871	-0.001000	0.14495	-0.339000	0.08088	AGC	UROC1	-	superfamily_Urocanase_dom,pirsf_Urocanase		0.647	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	C	NM_144639		126201258	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	0.001	T	T	126201258	C	T	126201258	3	4	189	1	0	0	0	0	1	0	0	0	17059	797	28	4	73	4	UROC1	3	126201258	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09	6072867	126201258	71821172	15	36378										
FBXL5	26234	genome.wustl.edu	37	chr4	15607405	15607405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	caaattctggcatccactggCggtatcagcatgaggacctg	11	11	2	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr4:15607405C>A	ENST00000341285.3	-	11	2141	c.2017G>T	c.(2017-2019)Gcc>Tcc	p.A673S	FBXL5_ENST00000412094.2_Missense_Mutation_p.A656S|FBXL5_ENST00000382358.4_Missense_Mutation_p.A547S	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	673					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATCCACTGGCGGTATCAGCA	0.413																																																	0													69	62	64					4																	15607405		2203	4300	6503	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.2017G>T	4.37:g.15607405C>A	ENSP00000344866:p.Ala673Ser		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.A673S	ENST00000341285.3	37	c.2017	CCDS3415.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088830|5.088830	0.94100|0.94100	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.17054|.	2.3;2.3;2.3|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75860|0.75860	0.3907|0.3907	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.995|.	T|T	0.72431|0.72431	-0.4296|-0.4296	10|5	0.87932|.	D|.	0|.	-9.2638|-9.2638	20.1731|20.1731	0.98165|0.98165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	656;673|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	S|L	673;656;547|593	ENSP00000344866:A673S;ENSP00000408679:A656S;ENSP00000371795:A547S|.	ENSP00000344866:A673S|.	A|R	-|-	1|2	0|0	FBXL5|FBXL5	15216503|15216503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.786000|7.786000	0.85741|0.85741	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GCC|CGC	FBXL5	-	NULL		0.413	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	HGNC	protein_coding	OTTHUMT00000214235.2	C			15607405	-1	no_errors	ENST00000341285	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15607405	C	A	15607405	3	1	189	1	0	0	0	0	1	0	0	0	5740	768	27	2	62	2	FBXL5	4	15607405	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09		15607405	175546871	16	36379										
CENPE	1062	genome.wustl.edu	37	chr4	104027424	104027424	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	tccttgcctgaggaggcgtgCcaaggacctggctgagaatc	14	11	0	2			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr4:104027424C>T	ENST00000265148.3	-	49	8150	c.8061G>A	c.(8059-8061)tgG>tgA	p.W2687*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.W2566*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2687	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGGAGGCGTGCCAAGGACCTG	0.433																																																	0													109	101	104					4																	104027424		2203	4300	6503	SO:0001587	stop_gained	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.8061G>A	4.37:g.104027424C>T	ENSP00000265148:p.Trp2687*		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.W2687*	ENST00000265148.3	37	c.8061	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.631855	0.99585	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.65	0.679	0.17975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3999	0.26958	0.3068:0.4027:0.2905:0.0	.	.	.	.	X	2687;2566	.	ENSP00000265148:W2687X	W	-	3	0	CENPE	104246873	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	0.374000	0.20501	-0.130000	0.11599	0.650000	0.86243	TGG	CENPE	-	NULL		0.433	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104027424	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	nonsense	SNP	0.009	T	T	104027424	C	T	104027424	4	4	189	1	0	0	0	0	0	1	0	0	3235	740	26	4	48	4	CENPE	4	104027424	Nonsense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09	88420019	104027424	87126852	17	36380										
BTN3A3	10384	genome.wustl.edu	37	chr6	26446061	26446061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	caccaagggagagaacatccCggctgtggaagcacctgtgg	14	11	0	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr6:26446061C>T	ENST00000244519.2	+	5	806	c.563C>T	c.(562-564)cCg>cTg	p.P188L	BTN3A3_ENST00000361232.3_Missense_Mutation_p.P146L|BTN3A3_ENST00000339789.4_Missense_Mutation_p.P146L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	188	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GAGAACATCCCGGCTGTGGAA	0.562																																																	0													137	124	129					6																	26446061		2203	4300	6503	SO:0001583	missense	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.563C>T	6.37:g.26446061C>T	ENSP00000244519:p.Pro188Leu		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.P188L	ENST00000244519.2	37	c.563	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216682	0.22373	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000496719;ENST00000487272	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	3.1	0.127	0.14727	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01976	0.0062	L	0.58428	1.81	0.09310	N	1	B;B	0.24768	0.111;0.111	B;B	0.14578	0.011;0.011	T	0.42565	-0.9444	9	0.34782	T	0.22	.	5.9189	0.19070	0.0:0.5995:0.0:0.4005	.	146;188	E9PCP5;O00478	.;BT3A3_HUMAN	L	188;146;146;188;146	ENSP00000244519:P188L;ENSP00000344968:P146L;ENSP00000355238:P146L;ENSP00000420147:P188L;ENSP00000419445:P146L	ENSP00000244519:P188L	P	+	2	0	BTN3A3	26554040	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.683000	0.25349	-0.132000	0.11557	0.462000	0.41574	CCG	BTN3A3	-	pfscan_Ig-like		0.562	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	C	NM_006994		26446061	1	no_errors	ENST00000244519	ensembl	human	known	70_37	missense	SNP	0.000	T	T	26446061	C	T	26446061	3	4	189	1	0	0	0	0	1	0	0	0	1567	652	23	2	573	2	BTN3A3	6	26446061	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09		26446061	144669006	18	36381										
BACH2	60468	genome.wustl.edu	37	chr6	90718534	90718534	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gtggactcatacacatacatGggggagtcaggcttctcatc	11	10	3	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr6:90718534G>T	ENST00000257749.4	-	6	737	c.30C>A	c.(28-30)ccC>ccA	p.P10P	BACH2_ENST00000343122.3_Silent_p.P10P|BACH2_ENST00000537989.1_Silent_p.P10P	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	10						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACACATACATGGGGGAGTCAG	0.478																																																	0													142	134	137					6																	90718534		2203	4300	6503	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.30C>A	6.37:g.90718534G>T			E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.P10	ENST00000257749.4	37	c.30	CCDS5026.1	6																																																																																			BACH2	-	superfamily_BTB/POZ_fold		0.478	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	G	NM_021813		90718534	-1	no_errors	ENST00000257749	ensembl	human	known	70_37	silent	SNP	1.000	T	T	90718534	G	T	90718534	2	4	189	1	0	0	0	0	0	0	0	1	1285	1335	47	4		4	BACH2	6	90718534	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	64272473	90718534	80396533	19	36382										
TNS3	64759	genome.wustl.edu	37	chr7	47408811	47408811	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gtggggcatctcgtcatccaGaatgtctgtctcccgatcct	10	13	4	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr7:47408811G>A	ENST00000398879.1	-	17	1798	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	TNS3_ENST00000311160.9_Silent_p.L478L|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	478					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCGTCATCCAGAATGTCTGTC	0.617																																																	0													58	64	62					7																	47408811		2159	4246	6405	SO:0001819	synonymous_variant	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1432C>T	7.37:g.47408811G>A			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L478	ENST00000398879.1	37	c.1432	CCDS5506.2	7																																																																																			TNS3	-	NULL		0.617	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	G	NM_022748		47408811	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	silent	SNP	1.000	A	A	47408811	G	A	47408811	2	1	189	1	0	0	0	0	0	0	0	1	16374	933	33	1		1	TNS3	7	47408811	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09		47408811	111729852	20	36383										
ZNF273	10793	genome.wustl.edu	37	chr7	64388860	64388860	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	atgtggcaaagcttttaaccAgtcctcaacccttactagac	6	12	1	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr7:64388860A>T	ENST00000476120.1	+	4	1225	c.1154A>T	c.(1153-1155)cAg>cTg	p.Q385L	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.Q320L	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GCTTTTAACCAGTCCTCAACC	0.388																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0													52	56	54					7																	64388860		2201	4300	6501	SO:0001583	missense	10793			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1154A>T	7.37:g.64388860A>T	ENSP00000418719:p.Gln385Leu		B3KQZ5|Q6P3V4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q385L	ENST00000476120.1	37	c.1154	CCDS5528.2	7	.	.	.	.	.	.	.	.	.	.	.	3.839	-0.034150	0.07543	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.06142	3.34;3.34	1.16	-0.449	0.12226	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02533	0.0077	N	0.16567	0.415	0.09310	N	1	P	0.40250	0.709	B	0.30943	0.122	T	0.43442	-0.9391	9	0.14252	T	0.57	.	4.4046	0.11402	0.7481:0.0:0.2519:0.0	.	385	Q14593	ZN273_HUMAN	L	385;320	ENSP00000418719:Q385L;ENSP00000324518:Q320L	ENSP00000324518:Q320L	Q	+	2	0	ZNF273	64026295	0.000000	0.05858	0.473000	0.27253	0.473000	0.32948	-0.370000	0.07523	0.175000	0.19841	0.172000	0.16884	CAG	ZNF273	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF273	HGNC	protein_coding	OTTHUMT00000313502.1	A			64388860	1	no_errors	ENST00000476120	ensembl	human	known	70_37	missense	SNP	0.002	T	T	64388860	A	T	64388860	3	4	189	1	0	0	0	0	1	0	0	0	17838	188	7	5	1168	5	ZNF273	7	64388860	Missense_Mutation	SNP	A	TCGA-Q1-A73S-01A-11D-A33O-09	16980049	64388860	94749803	21	36384										
CSMD1	64478	genome.wustl.edu	37	chr8	3009006	3009006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ggggctcaggatcacaccacCcaaggtgctcagcgtccctc	11	16	3	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr8:3009006C>A	ENST00000520002.1	-	41	6502	c.5947G>T	c.(5947-5949)Ggt>Tgt	p.G1983C	CSMD1_ENST00000542608.1_Missense_Mutation_p.G1982C|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1983C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1982C|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1982C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1983C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1983C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1983	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCACACCACCCAAGGTGCTC	0.527																																																	0													76	84	81					8																	3009006		2130	4267	6397	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5947G>T	8.37:g.3009006C>A	ENSP00000430733:p.Gly1983Cys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G1983C	ENST00000520002.1	37	c.5947		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.04|10.04	1.241386|1.241386	0.22711|0.22711	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.18016|.	2.24;2.24;2.24;2.24;2.24|.	4.89|4.89	0.117|0.117	0.14652|0.14652	CUB (5);|.	0.453294|0.453294	0.22847|0.22847	N|N	0.054917|0.054917	T|T	0.43831|0.43831	0.1265|0.1265	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	P;P;D;B|.	0.56746|.	0.908;0.712;0.977;0.045|.	P;P;P;B|.	0.57548|.	0.784;0.676;0.823;0.094|.	T|T	0.32375|0.32375	-0.9909|-0.9909	10|6	0.62326|.	D|.	0.03|.	.|.	6.1912|6.1912	0.20526|0.20526	0.0:0.5231:0.1315:0.3454|0.0:0.5231:0.1315:0.3454	.|.	1983;1983;1982;1983|.	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4|.	.;CSMD1_HUMAN;.;.|.	C|V	1983;1983;1844;1982;1982;1982|1462	ENSP00000383047:G1983C;ENSP00000430733:G1983C;ENSP00000441462:G1982C;ENSP00000446243:G1982C;ENSP00000441675:G1982C|.	ENSP00000320445:G1844C|.	G|G	-|-	1|2	0|0	CSMD1|CSMD1	2996413|2996413	0.092000|0.092000	0.21681|0.21681	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.501000|0.501000	0.22578|0.22578	0.073000|0.073000	0.16731|0.16731	-0.182000|-0.182000	0.12963|0.12963	GGT|GGG	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3009006	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.012	A	A	3009006	C	A	3009006	3	1	189	1	0	0	0	0	1	0	0	0	3949	623	22	4	4874	4	CSMD1	8	3009006	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09		3009006	143355016	22	36385										
TRPM6	140803	genome.wustl.edu	37	chr9	77377512	77377512	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ggacagaggcaagacagtttCtgctgaaaaaggaactcgct	12	8	1	3			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr9:77377512C>A	ENST00000360774.1	-	26	4312	c.4075G>T	c.(4075-4077)Gaa>Taa	p.E1359*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E1354*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E1354*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.E1359*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E1359*|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1359					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGACAGTTTCTGCTGAAAAA	0.502																																																	0													143	147	146					9																	77377512		2203	4300	6503	SO:0001587	stop_gained	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4075G>T	9.37:g.77377512C>A	ENSP00000354006:p.Glu1359*		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.E1359*	ENST00000360774.1	37	c.4075	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	43	9.906869	0.99293	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	6.02	3.19	0.36642	.	0.810483	0.11683	N	0.539610	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.0282	0.24952	0.0:0.6314:0.1134:0.2551	.	.	.	.	X	1359;1359;1354;1354;1359;1022;1022	.	ENSP00000309693:E1022X	E	-	1	0	TRPM6	76567332	0.001000	0.12720	0.004000	0.12327	0.834000	0.47266	0.644000	0.24766	0.890000	0.36211	0.655000	0.94253	GAA	TRPM6	-	NULL		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	C	NM_017662		77377512	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	77377512	C	A	77377512	4	1	189	1	0	0	0	0	0	1	0	0	16621	922	32	3	2049	3	TRPM6	9	77377512	Nonsense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09		77377512	63835919	23	36386										
S1PR3	1903	genome.wustl.edu	37	chr9	91616292	91616292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	atcgtcttggagaacctgatGgttttgattgccatctggaa	11	7	2	3			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr9:91616292G>T	ENST00000375846.3	+	1	4872	c.177G>T	c.(175-177)atG>atT	p.M59I	S1PR3_ENST00000358157.2_Missense_Mutation_p.M59I			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	59					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGAACCTGATGGTTTTGATTG	0.532											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													105	104	104					9																	91616292		2203	4300	6503	SO:0001583	missense	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3167	protein-coding gene	gene with protein product	"sphingosine-1-phosphate receptor 3"	601965	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.177G>T	9.37:g.91616292G>T	ENSP00000365006:p.Met59Ile	1283	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt	p.M59I	ENST00000375846.3	37	c.177	CCDS6680.1	9	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384274	0.25031	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.70986	-0.53;-0.53	5.14	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.266072	0.42682	N	0.000661	T	0.51346	0.1669	N	0.08118	0	0.46609	D	0.999125	B	0.22080	0.064	B	0.20767	0.031	T	0.50524	-0.8818	10	0.48119	T	0.1	.	13.4953	0.61421	0.0745:0.0:0.9255:0.0	.	59	Q99500	S1PR3_HUMAN	I	59	ENSP00000350878:M59I;ENSP00000365006:M59I	ENSP00000350878:M59I	M	+	3	0	S1PR3	90806112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.244000	0.43124	1.396000	0.46663	0.561000	0.74099	ATG	S1PR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt		0.532	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR3	HGNC	protein_coding	OTTHUMT00000052979.2	G	NM_005226		91616292	1	no_errors	ENST00000358157	ensembl	human	known	70_37	missense	SNP	1.000	T	T	91616292	G	T	91616292	3	4	189	1	0	0	0	0	1	0	0	0	13825	1348	47	4	179	4	S1PR3	9	91616292	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	14238780	91616292	49597139	24	36387										
MLL	4297	genome.wustl.edu	37	chr11	118371806	118371806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	cgtagagccggatatcaacaGcactgttgaacatgatgaaa	10	8	1	4			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr11:118371806G>A	ENST00000389506.5	+	25	6254	c.6254G>A	c.(6253-6255)aGc>aAc	p.S2085N	KMT2A_ENST00000534358.1_Missense_Mutation_p.S2088N|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2047N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2085					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GATATCAACAGCACTGTTGAA	0.493																																																	0													172	133	146					11																	118371806		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6254G>A	11.37:g.118371806G>A	ENSP00000374157:p.Ser2085Asn		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S2085N	ENST00000389506.5	37	c.6254	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447280	0.63178	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.81821	-1.54;-1.54;-1.53	5.28	5.28	0.74379	.	0.218048	0.56097	D	0.000033	T	0.71508	0.3348	N	0.25647	0.755	0.50632	D	0.999881	B;B	0.18013	0.025;0.012	B;B	0.18263	0.021;0.009	T	0.65582	-0.6133	10	0.17832	T	0.49	.	18.9199	0.92520	0.0:0.0:1.0:0.0	.	2088;2085	E9PQG7;Q03164	.;MLL1_HUMAN	N	2088;2085;2047;995	ENSP00000436786:S2088N;ENSP00000374157:S2085N;ENSP00000346516:S2047N	ENSP00000346516:S2047N	S	+	2	0	MLL	117877016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.562000	0.53777	2.465000	0.83290	0.491000	0.48974	AGC	MLL	-	pirsf_MeTrfase_trithorax		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118371806	1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	A	A	118371806	G	A	118371806	3	1	189	1	0	0	0	0	1	0	0	0	9643	971	34	4	6352	4	MLL	11	118371806	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09		118371806	16634710	25	36388										
VPS11	55823	genome.wustl.edu	37	chr11	118944082	118944082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gggcgggtccacgcactgcaGgagaaggacacacagaccaa	14	12	0	2			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr11:118944082G>T	ENST00000300793.6	+	7	1098	c.1056G>T	c.(1054-1056)caG>caT	p.Q352H	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	353					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACGCACTGCAGGAGAAGGACA	0.597																																																	0													60	61	60					11																	118944082		2129	4238	6367	SO:0001583	missense	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1056G>T	11.37:g.118944082G>T	ENSP00000475301:p.Gln352His		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-		0.597	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		G	NM_021729		118944082	1	no_errors	ENST00000300793	ensembl	human	known	70_37	rna	SNP	1.000	T	T	118944082	G	T	118944082	3	4	189	1	0	0	0	0	1	0	0	0	17219	991	35	4	1080	4	VPS11	11	118944082	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	572276	118944082	16062434	26	36389										
MTUS2	23281	genome.wustl.edu	37	chr13	29599910	29599910	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	cacacccggaagccaccgatGcacttggccatctgctgaac	9	16	1	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr13:29599910G>T	ENST00000431530.3	+	1	1163	c.1105G>T	c.(1105-1107)Gca>Tca	p.A369S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	359						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCACCGATGCACTTGGCCA	0.577																																																	0													50	53	52					13																	29599910		2063	4212	6275	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1105G>T	13.37:g.29599910G>T	ENSP00000392057:p.Ala369Ser		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.A369S	ENST00000431530.3	37	c.1105	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	1.831	-0.469843	0.04445	.	.	ENSG00000132938	ENST00000431530	T	0.12147	2.71	4.36	2.31	0.28768	.	1.830390	0.02701	N	0.111792	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.18561	0.022	T	0.31971	-0.9924	9	.	.	.	.	0.7998	0.01073	0.2505:0.1739:0.3973:0.1782	.	359	Q5JR59	MTUS2_HUMAN	S	369	ENSP00000392057:A369S	.	A	+	1	0	MTUS2	28497910	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.202000	0.09451	0.304000	0.22809	-0.218000	0.12543	GCA	MTUS2	-	NULL		0.577	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	G	XM_166270		29599910	1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.000	T	T	29599910	G	T	29599910	3	4	189	1	0	0	0	0	1	0	0	0	9989	1319	46	4	1107	4	MTUS2	13	29599910	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09		29599910	85569968	27	36390										
MGAT2	4247	genome.wustl.edu	37	chr14	50088484	50088484	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	atcaatcagctgatcgccggGgtgaatttctgtccggttct	11	10	4	2			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr14:50088484G>T	ENST00000305386.2	+	1	996	c.498G>T	c.(496-498)ggG>ggT	p.G166G	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	166					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TGATCGCCGGGGTGAATTTCT	0.507																																																	0													85	94	91					14																	50088484		2203	4300	6503	SO:0001819	synonymous_variant	4247			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.498G>T	14.37:g.50088484G>T			B3KPC5|B3KQM0	Silent	SNP	pfam_GlcNAc_II	p.G166	ENST00000305386.2	37	c.498	CCDS9690.1	14																																																																																			MGAT2	-	pfam_GlcNAc_II		0.507	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT2	HGNC	protein_coding	OTTHUMT00000276807.1	G	NM_002408		50088484	1	no_errors	ENST00000305386	ensembl	human	known	70_37	silent	SNP	0.058	T	T	50088484	G	T	50088484	2	4	189	1	0	0	0	0	0	0	0	1	9566	1219	43	4		4	MGAT2	14	50088484	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09		50088484	57261056	28	36391										
TYRO3	7301	genome.wustl.edu	37	chr15	41861203	41861203	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gagtcagccactggtggtctCttctcatgaccgtgcaggtg	13	11	3	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr15:41861203C>A	ENST00000263798.3	+	9	1459	c.1235C>A	c.(1234-1236)tCt>tAt	p.S412Y	TYRO3_ENST00000559066.1_Missense_Mutation_p.S367Y	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	412	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGGTGGTCTCTTCTCATGAC	0.567																																																	0													102	89	93					15																	41861203		2203	4300	6503	SO:0001583	missense	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1235C>A	15.37:g.41861203C>A	ENSP00000263798:p.Ser412Tyr		O14953|Q86VR3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S412Y	ENST00000263798.3	37	c.1235	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615812	0.66672	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.53423	0.62	5.06	5.06	0.68205	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000773	T	0.45074	0.1324	L	0.43152	1.355	0.33605	D	0.602889	D	0.59357	0.985	P	0.52066	0.689	T	0.44817	-0.9303	10	0.02654	T	1	-7.8423	13.1193	0.59316	0.0:0.8387:0.1613:0.0	.	412	Q06418	TYRO3_HUMAN	Y	344;412	ENSP00000263798:S412Y	ENSP00000263798:S412Y	S	+	2	0	TYRO3	39648495	0.933000	0.31639	1.000000	0.80357	0.996000	0.88848	1.234000	0.32660	2.638000	0.89438	0.655000	0.94253	TCT	TYRO3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	C			41861203	1	no_errors	ENST00000263798	ensembl	human	known	70_37	missense	SNP	0.992	A	A	41861203	C	A	41861203	3	1	189	1	0	0	0	0	1	0	0	0	16845	913	32	3	1269	3	TYRO3	15	41861203	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09		41861203	60670189	29	36392										
SPTBN5	51332	genome.wustl.edu	37	chr15	42147040	42147040	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gcagcctcaatgcggctcctCtgggcttggatgtggggata	15	10	2	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr15:42147040C>T	ENST00000320955.6	-	56	9785	c.9558G>A	c.(9556-9558)caG>caA	p.Q3186Q	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3186					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCGGCTCCTCTGGGCTTGGA	0.617																																																	0													61	63	62					15																	42147040		1931	4137	6068	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9558G>A	15.37:g.42147040C>T				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q3186	ENST00000320955.6	37	c.9558		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.617	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42147040	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.698	T	T	42147040	C	T	42147040	2	4	189	1	0	0	0	0	0	0	0	1	15152	912	32	1		1	SPTBN5	15	42147040	Silent	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09	285837	42147040	60384352	30	36393										
CIB2	10518	genome.wustl.edu	37	chr15	78398263	78398263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	tcctccttgcagatgaagttGtcagtgttgaagtctgtagg	12	7	2	3			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr15:78398263G>T	ENST00000258930.3	-	5	688	c.360C>A	c.(358-360)gaC>gaA	p.D120E	CIB2_ENST00000539011.1_Missense_Mutation_p.D77E|CIB2_ENST00000557846.1_Missense_Mutation_p.D71E|CIB2_ENST00000560618.1_Missense_Mutation_p.D77E	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	120	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						AGATGAAGTTGTCAGTGTTGA	0.577																																																	0													185	138	154					15																	78398263		2196	4293	6489	SO:0001583	missense	10518			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"EF-hand domain containing"	24579	protein-coding gene	gene with protein product		605564	"deafness, autosomal recessive 48", "Usher syndrome 1J (autosomal recessive)"	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.360C>A	15.37:g.78398263G>T	ENSP00000258930:p.Asp120Glu		B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D120E	ENST00000258930.3	37	c.360	CCDS10296.1	15	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768227	0.69878	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	T;T	0.76968	-1.06;-1.06	4.55	4.55	0.56014	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88485	0.6449	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89941	0.4073	10	0.87932	D	0	-18.2762	10.6248	0.45502	0.0952:0.0:0.9048:0.0	.	120;120	B4DDF0;O75838	.;CIB2_HUMAN	E	120;77	ENSP00000258930:D120E;ENSP00000442459:D77E	ENSP00000258930:D120E	D	-	3	2	CIB2	76185318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.182000	0.58310	2.074000	0.62210	0.478000	0.44815	GAC	CIB2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.577	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB2	HGNC	protein_coding	OTTHUMT00000289798.1	G	NM_006383		78398263	-1	no_errors	ENST00000258930	ensembl	human	known	70_37	missense	SNP	1.000	T	T	78398263	G	T	78398263	3	4	189	1	0	0	0	0	1	0	0	0	3426	1368	48	4	211	4	CIB2	15	78398263	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	36251223	78398263	24133129	31	36394										
UNC45A	55898	genome.wustl.edu	37	chr15	91488276	91488276	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	agggagaatttccacagactTtgtgaaaactacatcaagta	8	7	1	3			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr15:91488276T>C	ENST00000418476.2	+	9	1222	c.1182T>C	c.(1180-1182)ctT>ctC	p.L394L	UNC45A_ENST00000394275.2_Silent_p.L379L	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	394					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCCACAGACTTTGTGAAAACT	0.493																																																	0													74	72	73					15																	91488276		2198	4298	6496	SO:0001819	synonymous_variant	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1182T>C	15.37:g.91488276T>C			A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L394	ENST00000418476.2	37	c.1182	CCDS10367.1	15																																																																																			UNC45A	-	pfam_UNC-45/Ring3		0.493	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	T	NM_018671		91488276	1	no_errors	ENST00000418476	ensembl	human	known	70_37	silent	SNP	0.994	C	C	91488276	T	C	91488276	2	2	189	1	0	0	0	0	0	0	0	1	17019	1828	64	5		5	UNC45A	15	91488276	Silent	SNP	T	TCGA-Q1-A73S-01A-11D-A33O-09	13090013	91488276	11043116	32	36395										
ZNF594	84622	genome.wustl.edu	37	chr17	5086053	5086053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gatgttgaataaggagtgaaCgccgcctgaaggctttccca	12	9	0	3	rs370843760		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr17:5086053C>T	ENST00000399604.4	-	1	1639	c.1499G>A	c.(1498-1500)cGt>cAt	p.R500H	ZNF594_ENST00000575779.1_Missense_Mutation_p.R500H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAGGAGTGAACGCCGCCTGAA	0.463																																																	0								C	HIS/ARG	1,4361	2.1+/-5.4	0,1,2180	65	67	66		1499	-2.9	0	17		66	0,8572		0,0,4286	no	missense	ZNF594	NM_032530.1	29	0,1,6466	TT,TC,CC		0.0,0.0229,0.0077	benign	500/808	5086053	1,12933	2181	4286	6467	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1499G>A	17.37:g.5086053C>T	ENSP00000382513:p.Arg500His		Q6RFS0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R500H	ENST00000399604.4	37	c.1499	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	C	0.400	-0.918925	0.02396	2.29E-4	0.0	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.15834	2.39	1.45	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	L	0.42581	1.335	0.09310	N	1	B	0.16396	0.017	B	0.04013	0.001	T	0.38779	-0.9645	9	0.19590	T	0.45	.	0.2607	0.00218	0.2117:0.2594:0.176:0.3529	.	500	Q96JF6	ZN594_HUMAN	H	500;95	ENSP00000382513:R500H	ENSP00000373874:R95H	R	-	2	0	ZNF594	5026777	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.232000	0.02936	-2.394000	0.00583	-1.800000	0.00619	CGT	ZNF594	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	C	XM_290737		5086053	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	missense	SNP	0.000	T	T	5086053	C	T	5086053	3	4	189	1	0	0	0	0	1	0	0	0	18054	536	19	2	928	2	ZNF594	17	5086053	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09		5086053	76109157	33	36396										
MYO15A	51168	genome.wustl.edu	37	chr17	18067105	18067105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	tgctgagatggctctgacacGccctgaggccttcaatgaat	11	11	2	4	rs200694470		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr17:18067105G>T	ENST00000205890.5	+	60	10078	c.9740G>T	c.(9739-9741)cGc>cTc	p.R3247L	MYO15A_ENST00000451725.2_Missense_Mutation_p.R139L|MYO15A_ENST00000418233.3_Missense_Mutation_p.R511L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3247	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGACACGCCCTGAGGCC	0.587																																																	0													98	98	98					17																	18067105		2039	4192	6231	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9740G>T	17.37:g.18067105G>T	ENSP00000205890:p.Arg3247Leu		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R3247L	ENST00000205890.5	37	c.9740	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	9.912	1.209919	0.22289	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000451725	D;D	0.97430	-2.34;-4.38	4.94	2.97	0.34412	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.95271	0.8466	M	0.62723	1.935	0.09310	N	1	P;P;B;P;P;P	0.51449	0.68;0.666;0.338;0.561;0.945;0.933	B;B;B;B;B;B	0.43575	0.185;0.198;0.116;0.103;0.312;0.424	D	0.89118	0.3501	9	0.48119	T	0.1	.	8.3801	0.32466	0.3097:0.0:0.6903:0.0	.	139;236;511;3247;169;254	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	L	3247;236;139	ENSP00000205890:R3247L;ENSP00000409098:R139L	ENSP00000205890:R3247L	R	+	2	0	MYO15A	18007830	0.018000	0.18449	0.010000	0.14722	0.324000	0.28378	1.453000	0.35167	0.688000	0.31529	-0.258000	0.10820	CGC	MYO15A	-	smart_Band_41_domain,pfscan_FERM_domain		0.587	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18067105	1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.002	T	T	18067105	G	T	18067105	3	4	189	1	0	0	0	0	1	0	0	0	10086	1087	38	2	9970	2	MYO15A	17	18067105	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	12981052	18067105	63128105	34	36397										
TSEN54	283989	genome.wustl.edu	37	chr17	73518281	73518281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	aacgccgatcccgaggtgcaGcggtgctccagctggcggga	16	13	0	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr17:73518281G>T	ENST00000333213.6	+	8	1155	c.1119G>T	c.(1117-1119)caG>caT	p.Q373H		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	373					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGAGGTGCAGCGGTGCTCCA	0.697																																																	0													12	11	11					17																	73518281		2143	4184	6327	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1119G>T	17.37:g.73518281G>T	ENSP00000327487:p.Gln373His		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	NULL	p.Q373H	ENST00000333213.6	37	c.1119	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508536	0.27036	.	.	ENSG00000182173	ENST00000333213	T	0.59083	0.29	5.35	5.35	0.76521	.	0.509560	0.23310	N	0.049573	T	0.59985	0.2234	M	0.64997	1.995	0.35108	D	0.765868	P	0.47841	0.901	P	0.48270	0.572	T	0.71262	-0.4645	10	0.49607	T	0.09	-5.2377	9.729	0.40350	0.1538:0.0:0.8462:0.0	.	373	Q7Z6J9	SEN54_HUMAN	H	373	ENSP00000327487:Q373H	ENSP00000327487:Q373H	Q	+	3	2	TSEN54	71029876	0.610000	0.26983	0.979000	0.43373	0.406000	0.30931	3.146000	0.50631	2.487000	0.83934	0.655000	0.94253	CAG	TSEN54	-	NULL		0.697	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	G	NM_207346		73518281	1	no_errors	ENST00000333213	ensembl	human	known	70_37	missense	SNP	0.996	T	T	73518281	G	T	73518281	3	4	189	1	0	0	0	0	1	0	0	0	16645	962	34	4	1149	4	TSEN54	17	73518281	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	55451176	73518281	7676929	35	36398										
SGTA	6449	genome.wustl.edu	37	chr19	2762565	2762565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ggttggacttgtatgtctcgTtgtcggggtccagctccaga	14	9	1	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:2762565T>C	ENST00000221566.2	-	7	736	c.575A>G	c.(574-576)aAc>aGc	p.N192S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	192					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTATGTCTCGTTGTCGGGGTC	0.647																																																	0													136	127	130					19																	2762565		2203	4300	6503	SO:0001583	missense	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.575A>G	19.37:g.2762565T>C	ENSP00000221566:p.Asn192Ser		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N192S	ENST00000221566.2	37	c.575	CCDS12094.1	19	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648920	0.47362	.	.	ENSG00000104969	ENST00000221566	T	0.67345	-0.26	4.25	4.25	0.50352	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.659654	0.16207	N	0.224670	T	0.81009	0.4734	M	0.83384	2.64	0.54753	D	0.99998	D	0.89917	1.0	D	0.72982	0.979	T	0.79396	-0.1821	10	0.32370	T	0.25	-22.8715	12.2267	0.54463	0.0:0.0:0.0:1.0	.	192	O43765	SGTA_HUMAN	S	192	ENSP00000221566:N192S	ENSP00000221566:N192S	N	-	2	0	SGTA	2713565	1.000000	0.71417	0.027000	0.17364	0.022000	0.10575	7.569000	0.82380	1.563000	0.49615	0.533000	0.62120	AAC	SGTA	-	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.647	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTA	HGNC	protein_coding	OTTHUMT00000451448.2	T	NM_003021		2762565	-1	no_errors	ENST00000221566	ensembl	human	known	70_37	missense	SNP	1.000	C	C	2762565	T	C	2762565	3	2	189	1	0	0	0	0	1	0	0	0	14255	1725	60	5	386	5	SGTA	19	2762565	Missense_Mutation	SNP	T	TCGA-Q1-A73S-01A-11D-A33O-09		2762565	56366418	36	36399										
ZNF57	126295	genome.wustl.edu	37	chr19	2917022	2917022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ccctgcacaagaaagtttctGctggagaaaaaccatatgaa	8	9	1	3	rs187461635		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:2917022G>T	ENST00000306908.5	+	4	551	c.403G>T	c.(403-405)Gct>Tct	p.A135S	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.A103S	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAAGTTTCTGCTGGAGAAAA	0.423																																					NSCLC(150;910 1964 4303 10464 26498)												0													109	90	97					19																	2917022		2203	4300	6503	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.403G>T	19.37:g.2917022G>T	ENSP00000303696:p.Ala135Ser		Q8N6R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A135S	ENST00000306908.5	37	c.403	CCDS12098.1	19	.	.	.	.	.	.	.	.	.	.	G	9.285	1.049221	0.19827	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000522294;ENST00000523428	T;T;T	0.27256	1.68;2.52;1.68	2.21	-4.43	0.03568	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	N	0.03903	-0.33	0.09310	N	1	B	0.18968	0.032	B	0.10450	0.005	T	0.21655	-1.0239	9	0.48119	T	0.1	.	0.5421	0.00647	0.4025:0.1761:0.2487:0.1728	.	135	Q68EA5	ZNF57_HUMAN	S	135;137;103;103	ENSP00000303696:A135S;ENSP00000430905:A103S;ENSP00000430223:A103S	ENSP00000303696:A135S	A	+	1	0	ZNF57	2868022	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.210000	0.17455	-1.470000	0.01888	-1.368000	0.01194	GCT	ZNF57	-	NULL		0.423	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF57	HGNC	protein_coding	OTTHUMT00000378969.1	G	NM_173480		2917022	1	no_errors	ENST00000306908	ensembl	human	known	70_37	missense	SNP	0.000	T	T	2917022	G	T	2917022	3	4	189	1	0	0	0	0	1	0	0	0	18031	1319	46	4	417	4	ZNF57	19	2917022	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	154457	2917022	56211961	37	36400										
MUC16	94025	genome.wustl.edu	37	chr19	9090887	9090888	+	Frame_Shift_Ins	INS	-	-	A													0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	tcgggcaccccaggagacagINSaggggaggtgagactctggc							TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:9090887_9090888insA	ENST00000397910.4	-	1	1130_1131	c.927_928insT	c.(925-930)cctctgfs	p.L310fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	310	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGAGACAGAGGGGAGGTGA	0.5																																																	0																																										SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.928dupT	19.37:g.9090888_9090888dupA	ENSP00000381008:p.Leu310fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	pfam_SEA,smart_SEA,pfscan_SEA	p.L309fs	ENST00000397910.4	37	c.928_927	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.5	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	NM_024690		9090888	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.001	A	A	9090888	-	A	9090887	7	5	189	1	0	1	1	0	0	0	0	0	9996	933	33	0	42931	0	MUC16	19	9090887	Frame_Shift_Ins	INS	-	TCGA-Q1-A73S-01A-11D-A33O-09	6173865	9090887	50038096	38	36401										
ZNF699	374879	genome.wustl.edu	37	chr19	9407494	9407494	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ctttccacactcatggcattCacaggattttacttcagtat	5	11	3	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:9407494C>A	ENST00000591998.1	-	6	814	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	ZNF699_ENST00000308650.3_Nonsense_Mutation_p.E196*|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATGGCATTCACAGGATTTT	0.408																																																	0													130	118	122					19																	9407494		1970	4173	6143	SO:0001587	stop_gained	374879			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.586G>T	19.37:g.9407494C>A	ENSP00000467723:p.Glu196*		Q8N9A1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E196*	ENST00000591998.1	37	c.586	CCDS42495.1	19	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374064	0.42105	.	.	ENSG00000196110	ENST00000308650	.	.	.	3.41	-0.0486	0.13838	.	0.000000	0.34959	N	0.003546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	2.7221	0.05204	0.3937:0.3724:0.0:0.2338	.	.	.	.	X	196	.	ENSP00000311596:E196X	E	-	1	0	ZNF699	9268494	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.197000	0.03038	0.077000	0.16863	0.555000	0.69702	GAA	ZNF699	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1	C	NM_198535		9407494	-1	no_errors	ENST00000308650	ensembl	human	known	70_37	nonsense	SNP	0.000	A	A	9407494	C	A	9407494	4	1	189	1	0	0	0	0	0	1	0	0	18131	835	29	3	1346	3	ZNF699	19	9407494	Nonsense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09	316607	9407494	49721489	39	36402										
SMARCA4	6597	genome.wustl.edu	37	chr19	11129654	11129654	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	acgctgtccaactgggcgtaCgagtttgacaagtgggcccc	13	12	0	1	rs372410282		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:11129654C>A	ENST00000429416.3	+	18	2741	c.2460C>A	c.(2458-2460)taC>taA	p.Y820*	SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.Y820*|CTC-215O4.4_ENST00000587831.1_RNA	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	820	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACTGGGCGTACGAGTTTGACA	0.552			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											177	151	160					19																	11129654		2203	4300	6503	SO:0001587	stop_gained	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2460C>A	19.37:g.11129654C>A	ENSP00000395654:p.Tyr820*		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.Y820*	ENST00000429416.3	37	c.2460	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	c	20.3	3.975246	0.74360	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.95	-8.04	0.01110	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-22.4353	18.4672	0.90760	0.0:0.1251:0.0:0.8749	.	.	.	.	X	820;820;884;820;820;820;820;820	.	ENSP00000343896:Y820X	Y	+	3	2	SMARCA4	10990654	0.000000	0.05858	0.173000	0.22940	0.145000	0.21501	-2.945000	0.00681	-1.459000	0.01914	-1.290000	0.01357	TAC	SMARCA4	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.552	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11129654	1	no_errors	ENST00000358026	ensembl	human	known	70_37	nonsense	SNP	0.561	A	A	11129654	C	A	11129654	4	1	189	1	0	0	0	0	0	1	0	0	14800	547	19	2	2522	2	SMARCA4	19	11129654	Nonsense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09	1722160	11129654	47999329	40	36403										
NDUFA13	51079	genome.wustl.edu	37	chr19	19638112	19638112	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gcctacaaatcgaggacttcGaggctcgcatcgcgctgttg	12	12	0	0	rs202132650		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:19638112G>T	ENST00000507754.4	+	3	680	c.196G>T	c.(196-198)Gag>Tag	p.E66*	CTC-260F20.3_ENST00000555938.1_Nonsense_Mutation_p.E66*|NDUFA13_ENST00000512771.3_Nonsense_Mutation_p.E66*|YJEFN3_ENST00000608404.1_Nonsense_Mutation_p.E66*|NDUFA13_ENST00000252576.5_Nonsense_Mutation_p.E149*|NDUFA13_ENST00000428459.2_Nonsense_Mutation_p.E66*|YJEFN3_ENST00000436027.5_5'Flank|NDUFA13_ENST00000503283.1_Nonsense_Mutation_p.E66*|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	66					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CGAGGACTTCGAGGCTCGCAT	0.642																																																	0													68	61	64					19																	19638112		2203	4300	6503	SO:0001587	stop_gained	374887			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.196G>T	19.37:g.19638112G>T	ENSP00000423673:p.Glu66*		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Nonsense_Mutation	SNP	pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom	p.E66*	ENST00000507754.4	37	c.196	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	G	32	5.144178	0.94603	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	.	.	.	4.55	3.51	0.40186	.	0.137755	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.6054	0.28100	0.1163:0.0:0.8837:0.0	.	.	.	.	X	66;149;66;66	.	ENSP00000252576:E149X	E	+	1	0	YJEFN3;NDUFA13;CTC-260F20.3	19499112	1.000000	0.71417	0.997000	0.53966	0.272000	0.26649	6.352000	0.73027	2.110000	0.64415	0.585000	0.79938	GAG	YJEFN3	-	pfam_GRIM-19		0.642	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000367916.6	G	NM_015965		19638112	1	no_errors	ENST00000553705	ensembl	human	known	70_37	nonsense	SNP	0.997	T	T	19638112	G	T	19638112	4	4	189	1	0	0	0	0	0	1	0	0	10287	1059	37	3	206	3	NDUFA13	19	19638112	Nonsense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	8508458	19638112	39490871	41	36404										
ATP1A3	478	genome.wustl.edu	37	chr19	42490090	42490090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	cttgatctccaccaggtcccCgaccaccacctcctcagcgt	6	20	2	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:42490090C>A	ENST00000302102.5	-	6	682	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	ATP1A3_ENST00000545399.1_Missense_Mutation_p.G191W|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G189W|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G148W	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	178					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ACCAGGTCCCCGACCACCACC	0.632																																																	0													176	152	160					19																	42490090		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.532G>T	19.37:g.42490090C>A	ENSP00000302397:p.Gly178Trp		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.G178W	ENST00000302102.5	37	c.532	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020922	0.75275	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	3.75	3.75	0.43078	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	H	0.99927	4.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97887	1.0295	10	0.87932	D	0	.	13.4267	0.61030	0.0:1.0:0.0:0.0	.	191;189;178;178	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	W	178;178;191;148;189	ENSP00000302397:G178W;ENSP00000411503:G178W;ENSP00000444688:G191W;ENSP00000437577:G189W	ENSP00000302397:G178W	G	-	1	0	ATP1A3	47181930	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	7.686000	0.84128	1.833000	0.53350	0.313000	0.20887	GGG	ATP1A3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	C	NM_152296		42490090	-1	no_errors	ENST00000302102	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42490090	C	A	42490090	3	1	189	1	0	0	0	0	1	0	0	0	1131	652	23	2	2581	2	ATP1A3	19	42490090	Missense_Mutation	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09	22851978	42490090	16638893	42	36405										
ATP1A3	478	genome.wustl.edu	37	chr19	42492666	42492666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gaggtcatccaggtcccggcGctccttgcccttgttcttct	10	15	3	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:42492666G>A	ENST00000302102.5	-	2	205	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	ATP1A3_ENST00000545399.1_Missense_Mutation_p.R32C|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000543770.1_Missense_Mutation_p.R30C|ATP1A3_ENST00000602133.1_5'UTR	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	19					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGTCCCGGCGCTCCTTGCCC	0.592																																																	0													289	226	247					19																	42492666		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.55C>T	19.37:g.42492666G>A	ENSP00000302397:p.Arg19Cys		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.R19C	ENST00000302102.5	37	c.55	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787831	0.70337	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000543770;ENST00000448429	D;D;D;D	0.94966	-3.46;-3.57;-3.45;-3.45	4.07	2.93	0.34026	.	0.316576	0.30311	N	0.009919	D	0.88437	0.6436	N	0.08118	0	0.43971	D	0.996652	B;D;D;D	0.65815	0.323;0.995;0.994;0.992	B;P;P;B	0.49502	0.205;0.599;0.613;0.28	D	0.88476	0.3065	10	0.72032	D	0.01	.	8.5297	0.33326	0.0:0.0:0.7696:0.2304	.	32;30;19;19	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	C	19;19;32;30;32	ENSP00000302397:R19C;ENSP00000411503:R19C;ENSP00000444688:R32C;ENSP00000437577:R30C	ENSP00000302397:R19C	R	-	1	0	ATP1A3	47184506	0.984000	0.35163	1.000000	0.80357	0.991000	0.79684	2.370000	0.44240	2.028000	0.59812	0.479000	0.44913	CGC	ATP1A3	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.592	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	G	NM_152296		42492666	-1	no_errors	ENST00000302102	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42492666	G	A	42492666	3	1	189	1	0	0	0	0	1	0	0	0	1131	1087	38	2	3074	2	ATP1A3	19	42492666	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	2576	42492666	16636317	43	36406										
FBXO46	23403	genome.wustl.edu	37	chr19	46215154	46215154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gcccttctcgtatctcttgcGgcactgtttgcacggatcat	9	13	3	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:46215154G>A	ENST00000317683.3	-	2	1733	c.1600C>T	c.(1600-1602)Cgc>Tgc	p.R534C		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	534										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TATCTCTTGCGGCACTGTTTG	0.632																																																	0													54	56	56					19																	46215154		2141	4243	6384	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1600C>T	19.37:g.46215154G>A	ENSP00000410007:p.Arg534Cys			Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R534C	ENST00000317683.3	37	c.1600	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332841	0.60853	.	.	ENSG00000177051	ENST00000317683	T	0.22134	1.97	5.07	2.8	0.32819	F-box domain, Skp2-like (1);	.	.	.	.	T	0.21631	0.0521	N	0.14661	0.345	0.46011	D	0.998813	D	0.89917	1.0	D	0.63113	0.911	T	0.05767	-1.0865	9	0.87932	D	0	-20.3402	5.563	0.17154	0.0955:0.0:0.5939:0.3106	.	534	Q6PJ61	FBX46_HUMAN	C	534	ENSP00000410007:R534C	ENSP00000410007:R534C	R	-	1	0	FBXO46	50906994	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.144000	0.50616	1.149000	0.42402	-0.373000	0.07131	CGC	FBXO46	-	superfamily_F-box_dom_cyclin-like		0.632	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	G	XM_371179		46215154	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46215154	G	A	46215154	3	1	189	1	0	0	0	0	1	0	0	0	5773	1116	39	2	215	2	FBXO46	19	46215154	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	3722488	46215154	12913829	44	36407										
CRX	1406	genome.wustl.edu	37	chr19	48337769	48337769	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	gccctaagtggccccagtgtGgatctgatgcaccaggctgt	13	12	1	1			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:48337769G>T	ENST00000221996.7	+	2	275	c.69G>T	c.(67-69)gtG>gtT	p.V23V	CRX_ENST00000539067.1_Silent_p.V23V|TPRX2P_ENST00000535362.1_Silent_p.V23V	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	23					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GCCCCAGTGTGGATCTGATGC	0.587																																					Pancreas(57;461 1196 22201 40716 47188)												0													79	66	71					19																	48337769		2203	4300	6503	SO:0001819	synonymous_variant	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.69G>T	19.37:g.48337769G>T			Q0QD45	Silent	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V23	ENST00000221996.7	37	c.69	CCDS12706.1	19																																																																																			CRX	-	superfamily_Homeodomain-like		0.587	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	G	NM_000554		48337769	1	no_errors	ENST00000221996	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48337769	G	T	48337769	2	4	189	1	0	0	0	0	0	0	0	1	3907	1335	47	4		4	CRX	19	48337769	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	2122615	48337769	10791214	45	36408										
CEACAM18	729767	genome.wustl.edu	37	chr19	51986481	51986481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ggagcagatgggccgttaccGatgcactgtggagaaccccg	15	11	0	2	rs267605617		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:51986481G>A	ENST00000396477.4	+	4	905	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	CEACAM18_ENST00000451626.1_Missense_Mutation_p.R356Q	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	295	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCCGTTACCGATGCACTGTG	0.557																																																	0								A	GLN/ARG	0,4182		0,0,2091	111	111	111		1067	0.6	0	19		111	1,8457		0,1,4228	no	missense	CEACAM18	NM_001080405.1	43	0,1,6319	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	356/399	51986481	1,12639	2091	4229	6320	SO:0001583	missense	729767					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.884G>A	19.37:g.51986481G>A	ENSP00000379738:p.Arg295Gln		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R356Q	ENST00000396477.4	37	c.1067		19	.	.	.	.	.	.	.	.	.	.	.	10.36	1.327929	0.24080	0.0	1.18E-4	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.13307	2.6	2.76	0.555	0.17247	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20455	0.0492	L	0.56396	1.775	0.09310	N	1	D	0.64830	0.994	P	0.61940	0.896	T	0.16897	-1.0387	9	0.07644	T	0.81	-14.7448	5.1795	0.15152	0.2875:0.0:0.7125:0.0	.	356	A8MTB9	CEA18_HUMAN	Q	356;295;295	ENSP00000402203:R356Q	ENSP00000379738:R295Q	R	+	2	0	CEACAM18	56678293	0.942000	0.31987	0.002000	0.10522	0.012000	0.07955	0.448000	0.21726	0.267000	0.21916	-0.365000	0.07479	CGA	CEACAM18	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.557	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	G			51986481	1	no_errors	ENST00000451626	ensembl	human	known	70_37	missense	SNP	0.002	A	A	51986481	G	A	51986481	3	1	189	1	0	0	0	0	1	0	0	0	3194	1058	37	1	1085	1	CEACAM18	19	51986481	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	3648712	51986481	7142502	46	36409										
SLC12A5	57468	genome.wustl.edu	37	chr20	44669971	44669971	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	cttgtttctctccctaggatCtgcctcctgggtaaccgcac	8	15	2	0			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr20:44669971C>A	ENST00000454036.2	+	8	976	c.927C>A	c.(925-927)atC>atA	p.I309I	SLC12A5_ENST00000243964.3_Silent_p.I286I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	309					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCTAGGATCTGCCTCCTGG	0.582																																																	0													79	74	76					20																	44669971		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.927C>A	20.37:g.44669971C>A			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I309	ENST00000454036.2	37	c.927	CCDS46610.1	20																																																																																			SLC12A5	-	prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	C			44669971	1	no_errors	ENST00000454036	ensembl	human	known	70_37	silent	SNP	1.000	A	A	44669971	C	A	44669971	2	1	189	1	0	0	0	0	0	0	0	1	14416	903	32	3		3	SLC12A5	20	44669971	Silent	SNP	C	TCGA-Q1-A73S-01A-11D-A33O-09		44669971	18355549	47	36410										
C22orf31	25770	genome.wustl.edu	37	chr22	29454963	29454963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	cacagcgtggtacagagcctGgtaaccctctgtggggagac	14	11	1	2			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr22:29454963G>T	ENST00000216071.4	-	3	691	c.640C>A	c.(640-642)Cag>Aag	p.Q214K		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	214										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TACAGAGCCTGGTAACCCTCT	0.562																																																	0													89	85	86					22																	29454963		2203	4300	6503	SO:0001583	missense	25770			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.640C>A	22.37:g.29454963G>T	ENSP00000216071:p.Gln214Lys		A0AV97	Missense_Mutation	SNP	NULL	p.Q214K	ENST00000216071.4	37	c.640	CCDS13848.1	22	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590518	0.13812	.	.	ENSG00000100249	ENST00000216071	T	0.27104	1.69	5.64	-1.9	0.07665	.	0.801275	0.10709	N	0.643095	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30880	-0.9963	10	0.28530	T	0.3	-1.7723	4.5357	0.12028	0.0776:0.1227:0.2616:0.538	.	214	O95567	CV031_HUMAN	K	214	ENSP00000216071:Q214K	ENSP00000216071:Q214K	Q	-	1	0	C22orf31	27784963	0.078000	0.21339	0.883000	0.34634	0.545000	0.35147	0.011000	0.13264	0.120000	0.18254	0.650000	0.86243	CAG	C22orf31	-	NULL		0.562	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf31	HGNC	protein_coding	OTTHUMT00000320952.1	G	NM_015370		29454963	-1	no_errors	ENST00000216071	ensembl	human	known	70_37	missense	SNP	0.142	T	T	29454963	G	T	29454963	3	4	189	1	0	0	0	0	1	0	0	0	2148	1357	47	4	236	4	C22orf31	22	29454963	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09		29454963	21849603	48	36411										
CHM	1121	genome.wustl.edu	37	chrX	85128100	85128100	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	ctaaaccacaatctgggccaGagcagacataaacgttggat	9	10	1	2			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chrX:85128100G>C	ENST00000357749.2	-	14	1756	c.1727C>G	c.(1726-1728)tCt>tGt	p.S576C	CHM_ENST00000537751.1_Missense_Mutation_p.S428C|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	576					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATCTGGGCCAGAGCAGACATA	0.398																																																	0													102	88	92					X																	85128100		2203	4300	6503	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1727C>G	X.37:g.85128100G>C	ENSP00000350386:p.Ser576Cys		A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.S576C	ENST00000357749.2	37	c.1727	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700605	0.48307	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.59364	0.27;0.27	5.03	5.03	0.67393	.	0.188097	0.47852	D	0.000220	T	0.55465	0.1922	L	0.55481	1.735	0.42889	D	0.994194	P	0.42735	0.788	B	0.42319	0.383	T	0.59989	-0.7350	10	0.48119	T	0.1	-12.9817	13.4844	0.61357	0.0:0.1524:0.8476:0.0	.	576	P24386	RAE1_HUMAN	C	576;428	ENSP00000350386:S576C;ENSP00000441728:S428C	ENSP00000350386:S576C	S	-	2	0	CHM	85014756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.138000	0.58017	2.217000	0.71921	0.594000	0.82650	TCT	CHM	-	pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort		0.398	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	G	NM_000390		85128100	-1	no_errors	ENST00000357749	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85128100	G	C	85128100	3	2	189	1	0	0	0	0	1	0	0	0	3355	942	33	1	242	1	CHM	23	85128100	Missense_Mutation	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09		85128100	70142460	49	36412										
SLITRK4	139065	genome.wustl.edu	37	chrX	142718808	142718808	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.08	4	0.25824572833997	1.68036529680365	7.56164383561644	1.33440773569702	0.586466165413534	0.785144011597075	0	accttctcacagttgacataGagcacattctcaactgacac	5	13	2	3			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chrX:142718808G>T	ENST00000381779.4	-	2	342	c.117C>A	c.(115-117)ctC>ctA	p.L39L	SLITRK4_ENST00000356928.1_Silent_p.L39L|SLITRK4_ENST00000338017.4_Silent_p.L39L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	39						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTGACATAGAGCACATTCT	0.373																																																	0													72	66	68					X																	142718808		2203	4300	6503	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.117C>A	X.37:g.142718808G>T			Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L39	ENST00000381779.4	37	c.117	CCDS14679.1	X																																																																																			SLITRK4	-	NULL		0.373	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	G	NM_173078		142718808	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	silent	SNP	0.999	T	T	142718808	G	T	142718808	2	4	189	1	0	0	0	0	0	0	0	1	14775	929	33	3		3	SLITRK4	23	142718808	Silent	SNP	G	TCGA-Q1-A73S-01A-11D-A33O-09	57590708	142718808	12551752	50	36413										
CELA2B	51032	genome.wustl.edu	37	chr1	15807647	15807647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	accacacctgcggagggtccCtgatagccaacagctgggtc	12	14	0	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:15807647C>A	ENST00000375910.3	+	3	209	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	62	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CGGAGGGTCCCTGATAGCCAA	0.612																																																	0													127	111	117					1																	15807647		2203	4300	6503	SO:0001583	missense	51032				CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.184C>A	1.37:g.15807647C>A	ENSP00000365075:p.Leu62Met		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L62M	ENST00000375910.3	37	c.184	CCDS30605.1	1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731608	0.48939	.	.	ENSG00000215704	ENST00000375910;ENST00000375909;ENST00000422901	D;D	0.97430	-4.38;-3.19	4.0	3.07	0.35406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.45867	U	0.000328	D	0.98544	0.9514	M	0.92077	3.27	0.35362	D	0.788332	D	0.89917	1.0	D	0.91635	0.999	D	0.99960	1.1701	10	0.87932	D	0	.	11.5534	0.50733	0.0:0.8171:0.1829:0.0	.	62	P08218	CEL2B_HUMAN	M	62;34;46	ENSP00000365075:L62M;ENSP00000399811:L46M	ENSP00000365074:L34M	L	+	1	2	CELA2B	15680234	0.999000	0.42202	0.995000	0.50966	0.585000	0.36419	2.123000	0.41996	1.003000	0.39130	-0.243000	0.11985	CTG	CELA2B	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.612	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2B	HGNC	protein_coding	OTTHUMT00000006448.1	C	NM_015849		15807647	1	no_errors	ENST00000375910	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15807647	C	A	15807647	3	1	190	1	0	0	0	0	1	0	0	0	3217	680	24	4	194	4	CELA2B	1	15807647	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		15807647	233442974	1	36414										
PADI1	29943	genome.wustl.edu	37	chr1	17548870	17548870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tctacaaccgcacacgtgtgAaagagcccataggcaaggcc	10	13	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:17548870A>G	ENST00000375471.4	+	2	270	c.178A>G	c.(178-180)Aaa>Gaa	p.K60E		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	60					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CACACGTGTGAAAGAGCCCAT	0.547																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0													136	127	130					1																	17548870		2203	4300	6503	SO:0001583	missense	29943			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.178A>G	1.37:g.17548870A>G	ENSP00000364620:p.Lys60Glu		A1L4K6|Q70SX6	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.K60E	ENST00000375471.4	37	c.178	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	a	0.339	-0.951428	0.02285	.	.	ENSG00000142623	ENST00000375471	T	0.08282	3.11	3.87	-0.109	0.13584	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	1.303520	0.05874	U	0.625233	T	0.05547	0.0146	L	0.27053	0.805	0.25768	N	0.984872	B	0.16396	0.017	B	0.17433	0.018	T	0.45264	-0.9273	10	0.15499	T	0.54	1.069	3.3067	0.07002	0.5385:0.2102:0.2513:0.0	.	60	Q9ULC6	PADI1_HUMAN	E	60	ENSP00000364620:K60E	ENSP00000364620:K60E	K	+	1	0	PADI1	17421457	0.075000	0.21258	0.090000	0.20809	0.018000	0.09664	0.095000	0.15127	-0.227000	0.09884	0.255000	0.18592	AAA	PADI1	-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub		0.547	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	A	NM_013358		17548870	1	no_errors	ENST00000375471	ensembl	human	known	70_37	missense	SNP	0.256	G	G	17548870	A	G	17548870	3	3	190	1	0	0	0	0	1	0	0	0	11401	247	9	5	184	5	PADI1	1	17548870	Missense_Mutation	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	1741223	17548870	231701751	2	36415										
COL16A1	1307	genome.wustl.edu	37	chr1	32138051	32138051	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ggcctggcaatcccggaggaCcaggtaggcctgggctccca	15	14	0	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:32138051C>G	ENST00000373672.3	-	47	3587	c.3071G>C	c.(3070-3072)gGt>gCt	p.G1024A	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1024A	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1024	Collagen-like 6.|Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCGGAGGACCAGGTAGGCC	0.597																																					Colon(143;498 1786 21362 25193 36625)												0													81	89	86					1																	32138051		2024	4172	6196	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3071G>C	1.37:g.32138051C>G	ENSP00000362776:p.Gly1024Ala		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G1024A	ENST00000373672.3	37	c.3071	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179068	0.57692	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715	D;D;D	0.99329	-5.75;-5.75;-3.27	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	M	0.93939	3.475	0.42395	D	0.992545	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	D	0.98206	1.0470	10	0.87932	D	0	.	12.7965	0.57562	0.0:1.0:0.0:0.0	.	1024;1024	Q07092;Q07092-2	COGA1_HUMAN;.	A	1024;1024;229	ENSP00000362776:G1024A;ENSP00000271069:G1024A;ENSP00000411457:G229A	ENSP00000271069:G1024A	G	-	2	0	COL16A1	31910638	0.989000	0.36119	0.972000	0.41901	0.948000	0.59901	4.194000	0.58393	2.480000	0.83734	0.561000	0.74099	GGT	COL16A1	-	pfam_Collagen		0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	C	NM_001856		32138051	-1	no_errors	ENST00000271069	ensembl	human	known	70_37	missense	SNP	0.992	G	G	32138051	C	G	32138051	3	3	190	1	0	0	0	0	1	0	0	0	3678	507	18	4	1843	4	COL16A1	1	32138051	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	14589181	32138051	217112570	3	36416										
ARHGAP29	9411	genome.wustl.edu	37	chr1	94654878	94654878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gcaggtccaaatcctgaaggTtgggaactatttaaatgttt	10	6	0	1	rs369014370		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:94654878T>G	ENST00000260526.6	-	14	1652	c.1470A>C	c.(1468-1470)caA>caC	p.Q490H	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	490					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCCTGAAGGTTGGGAACTAT	0.343																																																	0													72	72	72					1																	94654878		2202	4299	6501	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1470A>C	1.37:g.94654878T>G	ENSP00000260526:p.Gln490His		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.Q490H	ENST00000260526.6	37	c.1470	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948617	0.34377	.	.	ENSG00000137962	ENST00000260526	T	0.23348	1.91	5.54	-4.22	0.03800	.	0.912664	0.09023	N	0.859861	T	0.04363	0.0120	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.10450	0.001;0.005	T	0.41466	-0.9507	10	0.37606	T	0.19	0.06	3.2917	0.06952	0.1966:0.4721:0.1462:0.1851	.	490;490	F8VWZ8;Q52LW3	.;RHG29_HUMAN	H	490	ENSP00000260526:Q490H	ENSP00000260526:Q490H	Q	-	3	2	ARHGAP29	94427466	0.001000	0.12720	0.000000	0.03702	0.436000	0.31835	-0.554000	0.06006	-0.545000	0.06224	-0.263000	0.10527	CAA	ARHGAP29	-	NULL		0.343	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	T	NM_004815		94654878	-1	no_errors	ENST00000260526	ensembl	human	known	70_37	missense	SNP	0.001	G	G	94654878	T	G	94654878	3	3	190	1	0	0	0	0	1	0	0	0	878	1722	60	5	2355	5	ARHGAP29	1	94654878	Missense_Mutation	SNP	T	TCGA-R2-A69V-01A-11D-A32I-09	62516827	94654878	154595743	4	36417										
ABCD3	5825	genome.wustl.edu	37	chr1	94980758	94980758	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tctctttggaaacatcatgaGgtttgtatttctttcattga	7	6	4	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:94980758G>T	ENST00000370214.4	+	22	1926	c.1902G>T	c.(1900-1902)gaG>gaT	p.E634D	ABCD3_ENST00000454898.2_Splice_Site_p.E658D|ABCD3_ENST00000394233.2_Splice_Site_p.E524D|ABCD3_ENST00000536817.1_Splice_Site_p.E561D|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	634	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.			VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470). {ECO:0000305}.	ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AACATCATGAGGTTTGTATTT	0.299																																																	0													140	132	135					1																	94980758		2203	4299	6502	SO:0001630	splice_region_variant	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1902+1G>T	1.37:g.94980758G>T			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.E658D	ENST00000370214.4	37	c.1974	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666023	0.29604	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47	5.92	5.92	0.95590	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.148719	0.64402	D	0.000012	D	0.96956	0.9006	N	0.16567	0.415	0.51012	D	0.999907	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.14578	0.011;0.004;0.007	D	0.95414	0.8501	10	0.20519	T	0.43	-17.6173	12.0242	0.53360	0.0:0.129:0.7375:0.1335	.	658;524;634	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	D	524;658;561;634	ENSP00000377780:E524D;ENSP00000403357:E658D;ENSP00000440692:E561D;ENSP00000359233:E634D	ENSP00000359233:E634D	E	+	3	2	ABCD3	94753346	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.795000	0.55499	2.809000	0.96659	0.557000	0.71058	GAG	ABCD3	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.299	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	G	NM_002858	Missense_Mutation	94980758	1	no_errors	ENST00000454898	ensembl	human	known	70_37	missense	SNP	1.000	T	T	94980758	G	T	94980758	5	4	190	1	0	0	0	0	0	0	1	0	62	1014	35	4	2019	4	ABCD3	1	94980758	Splice_Site	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	325880	94980758	154269863	5	36418										
S1PR1	1901	genome.wustl.edu	37	chr1	101705515	101705515	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cgtcgggccttcatccggatCatgtcctgctgcaagtgccc	11	15	2	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:101705515C>T	ENST00000305352.6	+	2	1350	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	325					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCATCCGGATCATGTCCTGCT	0.557																																																	0													152	155	154					1																	101705515		2203	4300	6503	SO:0001819	synonymous_variant	1901			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.975C>T	1.37:g.101705515C>T			D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.I325	ENST00000305352.6	37	c.975	CCDS777.1	1																																																																																			S1PR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_EDG1_rcpt,prints_Melcrt_ACTH_rcpt		0.557	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	C	NM_001400		101705515	1	no_errors	ENST00000305352	ensembl	human	known	70_37	silent	SNP	1.000	T	T	101705515	C	T	101705515	2	4	190	1	0	0	0	0	0	0	0	1	13823	816	29	1		1	S1PR1	1	101705515	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	6724757	101705515	147545106	6	36419										
ANKRD34A	284615	genome.wustl.edu	37	chr1	145473903	145473903	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ggaaatccaactgcagaccgCtggaggaggagggcgtggga	18	8	0	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:145473903C>G	ENST00000323397.4	+	4	1868	c.575C>G	c.(574-576)gCt>gGt	p.A192G	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	192						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCAGACCGCTGGAGGAGGA	0.607																																																	0													61	65	64					1																	145473903		2203	4300	6503	SO:0001583	missense	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.575C>G	1.37:g.145473903C>G	ENSP00000314103:p.Ala192Gly		B3KSU3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A192G	ENST00000323397.4	37	c.575	CCDS30829.1	1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130607	0.37630	.	.	ENSG00000181039	ENST00000323397	T	0.72615	-0.67	4.14	4.14	0.48551	.	0.655224	0.14347	N	0.325344	T	0.34077	0.0885	N	0.02011	-0.69	0.35810	D	0.823815	P	0.38711	0.643	B	0.41691	0.364	T	0.38693	-0.9649	10	0.40728	T	0.16	-7.3597	12.2657	0.54676	0.0:1.0:0.0:0.0	.	192	Q69YU3	AN34A_HUMAN	G	192	ENSP00000314103:A192G	ENSP00000314103:A192G	A	+	2	0	ANKRD34A	144185260	0.087000	0.21565	0.978000	0.43139	0.914000	0.54420	1.272000	0.33109	2.597000	0.87782	0.485000	0.47835	GCT	ANKRD34A	-	NULL		0.607	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	C			145473903	1	no_errors	ENST00000323397	ensembl	human	known	70_37	missense	SNP	0.994	G	G	145473903	C	G	145473903	3	3	190	1	0	0	0	0	1	0	0	0	662	797	28	4	577	4	ANKRD34A	1	145473903	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	43768388	145473903	103776718	7	36420										
NEK7	140609	genome.wustl.edu	37	chr1	198231733	198231733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tttaatggatgccaaagcacGtgctgattgcatcaaagaaa	9	7	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:198231733G>T	ENST00000367385.4	+	4	569	c.227G>T	c.(226-228)cGt>cTt	p.R76L	NEK7_ENST00000538004.1_Missense_Mutation_p.R76L	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GCCAAAGCACGTGCTGATTGC	0.279																																																	0													137	144	142					1																	198231733		2203	4291	6494	SO:0001583	missense	140609			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.227G>T	1.37:g.198231733G>T	ENSP00000356355:p.Arg76Leu		A6NGT8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R76L	ENST00000367385.4	37	c.227	CCDS1394.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.058305	0.93846	.	.	ENSG00000151414	ENST00000367385;ENST00000538004;ENST00000391974	T;T;T	0.66280	-0.2;-0.2;3.23	5.76	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	N	0.20401	0.57	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.72250	-0.4348	10	0.87932	D	0	.	14.6527	0.68808	0.0706:0.0:0.9294:0.0	.	76	Q8TDX7	NEK7_HUMAN	L	76	ENSP00000356355:R76L;ENSP00000444621:R76L;ENSP00000375835:R76L	ENSP00000356355:R76L	R	+	2	0	NEK7	196498356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.198000	0.94994	1.439000	0.47511	0.650000	0.86243	CGT	NEK7	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.279	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK7	HGNC	protein_coding	OTTHUMT00000086550.2	G	NM_133494		198231733	1	no_errors	ENST00000367385	ensembl	human	known	70_37	missense	SNP	1.000	T	T	198231733	G	T	198231733	3	4	190	1	0	0	0	0	1	0	0	0	10353	1145	40	2	237	2	NEK7	1	198231733	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	52757830	198231733	51018888	8	36421										
KCNK2	3776	genome.wustl.edu	37	chr1	215342651	215342651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ttggctggagttggagatcaGctaggcaccatatttggaaa	13	6	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:215342651G>T	ENST00000444842.2	+	4	735	c.585G>T	c.(583-585)caG>caT	p.Q195H	KCNK2_ENST00000391894.2_Missense_Mutation_p.Q180H|KCNK2_ENST00000391895.2_Missense_Mutation_p.Q191H	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	195					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ttggagatcagctaggcacca	0.378																																																	0													115	116	116					1																	215342651		2203	4300	6503	SO:0001583	missense	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.585G>T	1.37:g.215342651G>T	ENSP00000394033:p.Gln195His		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.Q195H	ENST00000444842.2	37	c.585	CCDS41467.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.17|12.17	1.857678|1.857678	0.32791|0.32791	.|.	.|.	ENSG00000082482|ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842|ENST00000366948	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	6.16|6.16	1.33|1.33	0.21861|0.21861	Ion transport 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.37945|0.37945	0.1022|0.1022	N|N	0.11131|0.11131	0.1|0.1	0.52501|0.52501	D|D	0.999955|0.999955	B;B;B|.	0.10296|.	0.0;0.003;0.003|.	B;B;B|.	0.16722|.	0.003;0.008;0.016|.	T|T	0.28490|0.28490	-1.0042|-1.0042	10|6	0.36615|0.72032	T|D	0.2|0.01	.|.	10.1191|10.1191	0.42609|0.42609	0.6775:0.0:0.3225:0.0|0.6775:0.0:0.3225:0.0	.|.	180;195;191|.	O95069-2;O95069;O95069-3|.	.;KCNK2_HUMAN;.|.	H|I	191;180;195|152	ENSP00000375765:Q191H;ENSP00000375764:Q180H;ENSP00000394033:Q195H|.	ENSP00000375764:Q180H|ENSP00000355915:S152I	Q|S	+|+	3|2	2|0	KCNK2|KCNK2	213409274|213409274	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	2.455000|2.455000	0.44988|0.44988	-0.022000|-0.022000	0.13986|0.13986	-0.295000|-0.295000	0.09555|0.09555	CAG|AGC	KCNK2	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK		0.378	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	G	NM_014217		215342651	1	no_errors	ENST00000444842	ensembl	human	known	70_37	missense	SNP	1.000	T	T	215342651	G	T	215342651	3	4	190	1	0	0	0	0	1	0	0	0	8086	962	34	4	642	4	KCNK2	1	215342651	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	17110918	215342651	33907970	9	36422										
GCKR	2646	genome.wustl.edu	37	chr2	27731095	27731095	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	catggccactgcttttctttGaatatgaagggaacttcatc	8	9	2	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:27731095G>C	ENST00000264717.2	+	16	1462	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q	GCKR_ENST00000424318.2_Missense_Mutation_p.E277Q	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	467	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GCTTTTCTTTGAATATGAAGG	0.493																																																	0													111	110	110					2																	27731095		2203	4300	6503	SO:0001583	missense	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1399G>C	2.37:g.27731095G>C	ENSP00000264717:p.Glu467Gln		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	NULL	p.E467Q	ENST00000264717.2	37	c.1399	CCDS1757.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.042|4.042	0.005447|0.005447	0.07866|0.07866	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000264717;ENST00000424318|ENST00000411584	D;D|.	0.83755|.	-1.76;-1.76|.	3.81|3.81	1.99|1.99	0.26369|0.26369	Sugar isomerase (SIS) (1);|.	1.034630|.	0.07611|.	N|.	0.925325|.	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.36672|0.36672	1.1|1.1	0.23243|0.23243	N|N	0.998057|0.998057	B;B;B|.	0.26258|.	0.144;0.091;0.145|.	B;B;B|.	0.31812|.	0.136;0.048;0.048|.	T|T	0.21895|0.21895	-1.0232|-1.0232	10|5	0.54805|.	T|.	0.06|.	-2.3419|-2.3419	6.0241|6.0241	0.19646|0.19646	0.2435:0.0:0.7565:0.0|0.2435:0.0:0.7565:0.0	.|.	277;465;467|.	F5H1P6;A8K731;Q14397|.	.;.;GCKR_HUMAN|.	Q|F	467;277|167	ENSP00000264717:E467Q;ENSP00000409109:E277Q|.	ENSP00000264717:E467Q|.	E|L	+|+	1|3	0|2	GCKR|GCKR	27584599|27584599	0.988000|0.988000	0.35896|0.35896	0.888000|0.888000	0.34837|0.34837	0.352000|0.352000	0.29268|0.29268	2.783000|2.783000	0.47766|0.47766	0.384000|0.384000	0.24942|0.24942	-0.136000|-0.136000	0.14681|0.14681	GAA|TTG	GCKR	-	NULL		0.493	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCKR	HGNC	protein_coding	OTTHUMT00000250214.1	G	NM_001486		27731095	1	no_errors	ENST00000264717	ensembl	human	known	70_37	missense	SNP	0.977	C	C	27731095	G	C	27731095	3	2	190	1	0	0	0	0	1	0	0	0	6313	1291	45	1	1461	1	GCKR	2	27731095	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09		27731095	215468278	10	36423										
GALNT14	79623	genome.wustl.edu	37	chr2	31147626	31147626	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ctgagttcagggtagatattCtccaggtaccacttgaagct	10	9	2	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:31147626C>A	ENST00000349752.5	-	12	1854	c.1215G>T	c.(1213-1215)gaG>gaT	p.E405D	GALNT14_ENST00000356174.3_Missense_Mutation_p.E372D|GALNT14_ENST00000420311.2_Missense_Mutation_p.E370D|GALNT14_ENST00000324589.5_Missense_Mutation_p.E410D|GALNT14_ENST00000406653.1_Missense_Mutation_p.E385D|GALNT14_ENST00000486564.1_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	405					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTAGATATTCTCCAGGTACC	0.537																																																	0													95	83	87					2																	31147626		2203	4300	6503	SO:0001583	missense	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1215G>T	2.37:g.31147626C>A	ENSP00000288988:p.Glu405Asp		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E405D	ENST00000349752.5	37	c.1215	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	c	11.28	1.592009	0.28357	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	4.83	0.105	0.14535	Ricin B-related lectin (1);	0.108202	0.64402	D	0.000009	T	0.30854	0.0778	L	0.27053	0.805	0.50813	D	0.99989	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.11329	0.001;0.006;0.001;0.001;0.0	T	0.06625	-1.0816	10	0.15952	T	0.53	.	6.1175	0.20134	0.123:0.5717:0.0:0.3053	.	370;372;410;405;385	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	D	405;410;385;372;370;372	ENSP00000288988:E405D;ENSP00000314500:E410D;ENSP00000385435:E385D;ENSP00000348497:E372D;ENSP00000415514:E370D;ENSP00000406399:E372D	ENSP00000314500:E410D	E	-	3	2	GALNT14	31001130	0.624000	0.27102	0.958000	0.39756	0.805000	0.45488	-0.131000	0.10482	-0.305000	0.08831	-0.692000	0.03713	GAG	GALNT14	-	superfamily_Ricin_B_lectin		0.537	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	C	NM_024572		31147626	-1	no_errors	ENST00000349752	ensembl	human	known	70_37	missense	SNP	0.898	A	A	31147626	C	A	31147626	3	1	190	1	0	0	0	0	1	0	0	0	6231	912	32	3	459	3	GALNT14	2	31147626	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	3416531	31147626	212051747	11	36424										
INHBB	3625	genome.wustl.edu	37	chr2	121107209	121107209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	catagcacccaccggctactAcgggaactactgtgagggca	11	13	0	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:121107209A>G	ENST00000295228.3	+	2	1029	c.983A>G	c.(982-984)tAc>tGc	p.Y328C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	328					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ACCGGCTACTACGGGAACTAC	0.617																																																	0													70	68	69					2																	121107209		2203	4300	6503	SO:0001583	missense	3625				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.983A>G	2.37:g.121107209A>G	ENSP00000295228:p.Tyr328Cys		Q53T31|Q8N1D3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.Y328C	ENST00000295228.3	37	c.983	CCDS2132.1	2	.	.	.	.	.	.	.	.	.	.	A	8.907	0.957829	0.18507	.	.	ENSG00000163083	ENST00000295228	D	0.83914	-1.78	4.69	3.51	0.40186	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.142736	0.48286	D	0.000186	D	0.84401	0.5464	L	0.39245	1.2	0.41587	D	0.988778	D	0.62365	0.991	D	0.64506	0.926	D	0.84018	0.0352	10	0.66056	D	0.02	-22.5242	8.7203	0.34436	0.6978:0.0:0.0:0.3022	.	328	P09529	INHBB_HUMAN	C	328	ENSP00000295228:Y328C	ENSP00000295228:Y328C	Y	+	2	0	INHBB	120823679	0.998000	0.40836	0.980000	0.43619	0.037000	0.13140	3.807000	0.55591	0.907000	0.36646	-0.490000	0.04691	TAC	INHBB	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu		0.617	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	A			121107209	1	no_errors	ENST00000295228	ensembl	human	known	70_37	missense	SNP	0.963	G	G	121107209	A	G	121107209	3	3	190	1	0	0	0	0	1	0	0	0	7762	391	14	5	989	5	INHBB	2	121107209	Missense_Mutation	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	89959583	121107209	122092164	12	36425										
YSK4	80122	genome.wustl.edu	37	chr2	135756518	135756518	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cgtttctatttcatttggatGagaaactgcatgtgcttgtg	10	6	2	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:135756518G>A	ENST00000375845.3	-	5	394	c.364C>T	c.(364-366)Cat>Tat	p.H122Y	MAP3K19_ENST00000375844.3_Missense_Mutation_p.H122Y|MAP3K19_ENST00000392917.3_Missense_Mutation_p.H122Y|MAP3K19_ENST00000392918.3_Missense_Mutation_p.H122Y|MAP3K19_ENST00000392915.1_Missense_Mutation_p.H139Y|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	122							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCATTTGGATGAGAAACTGCA	0.438																																																	0													99	98	98					2																	135756518		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.364C>T	2.37:g.135756518G>A	ENSP00000365005:p.His122Tyr		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H122Y	ENST00000375845.3	37	c.364	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187181	0.38609	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952	T;T;T;T;T	0.70986	-0.45;-0.48;-0.53;-0.45;1.93	5.26	4.38	0.52667	.	0.400583	0.18328	N	0.144596	T	0.52419	0.1733	L	0.36672	1.1	0.58432	D	0.999999	B;B;B;B;B;B	0.30664	0.002;0.066;0.011;0.034;0.011;0.289	B;B;B;B;B;B	0.25614	0.007;0.033;0.023;0.033;0.023;0.062	T	0.47649	-0.9101	10	0.02654	T	1	.	9.67	0.40006	0.093:0.0:0.9069:0.0	.	122;122;122;139;122;122	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	Y	122;122;122;122;139;94	ENSP00000365005:H122Y;ENSP00000365004:H122Y;ENSP00000376650:H122Y;ENSP00000376649:H122Y;ENSP00000376647:H139Y	ENSP00000365004:H122Y	H	-	1	0	YSK4	135472988	0.999000	0.42202	0.224000	0.23877	0.034000	0.12701	1.821000	0.39041	1.461000	0.47929	0.655000	0.94253	CAT	MAP3K19	-	NULL		0.438	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135756518	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	0.658	A	A	135756518	G	A	135756518	3	1	190	1	0	0	0	0	1	0	0	0	17526	1290	45	1	3646	1	YSK4	2	135756518	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	14649309	135756518	107442855	13	36426										
ITGA4	3676	genome.wustl.edu	37	chr2	182346369	182346369	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ttcggagccagcatactaccGaagtagtcggaggagctcct	12	11	0	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:182346369G>T	ENST00000397033.2	+	7	1229	c.799G>T	c.(799-801)Gaa>Taa	p.E267*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	267					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GCATACTACCGAAGTAGTCGG	0.373																																																	0													68	62	64					2																	182346369		1811	4073	5884	SO:0001587	stop_gained	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.799G>T	2.37:g.182346369G>T	ENSP00000380227:p.Glu267*		D3DPG4|Q7Z4L6	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E267*	ENST00000397033.2	37	c.799	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948435	0.92593	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.479	0.95002	0.0:0.0:1.0:0.0	.	.	.	.	X	267	.	ENSP00000233573:E267X	E	+	1	0	ITGA4	182054614	1.000000	0.71417	0.939000	0.37840	0.010000	0.07245	6.915000	0.75770	2.589000	0.87451	0.591000	0.81541	GAA	ITGA4	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.373	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	G			182346369	1	no_errors	ENST00000397033	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	182346369	G	T	182346369	4	4	190	1	0	0	0	0	0	1	0	0	7898	1059	37	3	825	3	ITGA4	2	182346369	Nonsense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	46589851	182346369	60853004	14	36427										
PARD3B	117583	genome.wustl.edu	37	chr2	206036980	206036980	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agctgattgcagttaatgggGaatctcttttgggaaagtcc	12	6	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:206036980G>T	ENST00000406610.2	+	12	1873	c.1666G>T	c.(1666-1668)Gaa>Taa	p.E556*	PARD3B_ENST00000462231.1_Nonsense_Mutation_p.E556*|PARD3B_ENST00000349953.3_Nonsense_Mutation_p.E556*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.E494*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.E556*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	556	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGTTAATGGGGAATCTCTTTT	0.443																																																	0													138	131	133					2																	206036980		1925	4140	6065	SO:0001587	stop_gained	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1666G>T	2.37:g.206036980G>T	ENSP00000385848:p.Glu556*		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Nonsense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E556*	ENST00000406610.2	37	c.1666		2	.	.	.	.	.	.	.	.	.	.	G	38	7.079289	0.98048	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.733	0.96192	0.0:0.0:1.0:0.0	.	.	.	.	X	556;494;556;556	.	ENSP00000340280:E556X	E	+	1	0	PARD3B	205745225	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.476000	0.97823	2.665000	0.90641	0.585000	0.79938	GAA	PARD3B	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.443	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206036980	1	no_errors	ENST00000406610	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	206036980	G	T	206036980	4	4	190	1	0	0	0	0	0	1	0	0	11468	1175	41	3	1712	3	PARD3B	2	206036980	Nonsense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	23690611	206036980	37162393	15	36428										
BRPF1	7862	genome.wustl.edu	37	chr3	9775982	9775982	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ccacgacaacccaccaccccCacaacaaactccactccgca	2	23	0	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:9775982C>A	ENST00000457855.1	+	1	169	c.158C>A	c.(157-159)cCa>cAa	p.P53Q	BRPF1_ENST00000302054.3_Missense_Mutation_p.P53Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.P53Q|BRPF1_ENST00000383829.2_Missense_Mutation_p.P53Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.P53Q			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	53					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCACCACCCCCACAACAAACT	0.572																																																	0													181	205	197					3																	9775982		2203	4300	6503	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.158C>A	3.37:g.9775982C>A	ENSP00000410210:p.Pro53Gln		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.P53Q	ENST00000457855.1	37	c.158	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828126	0.32329	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000420291;ENST00000426583;ENST00000457855	T;T;T;T;T;T	0.44881	2.33;2.32;3.71;2.31;0.91;2.31	5.62	5.62	0.85841	.	0.163836	0.53938	N	0.000048	T	0.30634	0.0771	N	0.21448	0.665	0.52501	D	0.999951	B;B;B;B	0.19583	0.037;0.006;0.01;0.005	B;B;B;B	0.23852	0.049;0.003;0.003;0.002	T	0.07290	-1.0780	10	0.27082	T	0.32	.	13.406	0.60913	0.1575:0.8425:0.0:0.0	.	53;53;53;53	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	Q	53	ENSP00000402485:P53Q;ENSP00000398863:P53Q;ENSP00000373340:P53Q;ENSP00000306297:P53Q;ENSP00000404235:P53Q;ENSP00000410210:P53Q	ENSP00000306297:P53Q	P	+	2	0	BRPF1	9750982	0.990000	0.36364	0.991000	0.47740	0.419000	0.31324	3.350000	0.52224	2.651000	0.90000	0.563000	0.77884	CCA	BRPF1	-	NULL		0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	C	NM_001003694		9775982	1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	0.986	A	A	9775982	C	A	9775982	3	1	190	1	0	0	0	0	1	0	0	0	1523	594	21	4	160	4	BRPF1	3	9775982	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		9775982	188246448	16	36429										
ARPP21	10777	genome.wustl.edu	37	chr3	35724351	35724351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aacatacagaggcggctggaGgctcagaatcaagaaagaag	13	7	2	4			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:35724351G>T	ENST00000187397.4	+	4	597	c.141G>T	c.(139-141)gaG>gaT	p.E47D	ARPP21_ENST00000428373.1_Missense_Mutation_p.E47D|ARPP21_ENST00000444190.1_Missense_Mutation_p.E47D|ARPP21_ENST00000436702.1_Missense_Mutation_p.E47D|ARPP21_ENST00000432682.1_Missense_Mutation_p.E47D|ARPP21_ENST00000474696.1_Missense_Mutation_p.E47D|ARPP21_ENST00000427542.1_Missense_Mutation_p.E47D|ARPP21_ENST00000337271.5_Missense_Mutation_p.E47D|ARPP21_ENST00000412048.1_Missense_Mutation_p.E47D|ARPP21_ENST00000441454.1_Missense_Mutation_p.E47D|ARPP21_ENST00000396482.2_Missense_Mutation_p.E47D|ARPP21_ENST00000417925.1_Missense_Mutation_p.E47D|ARPP21_ENST00000458225.1_Missense_Mutation_p.E47D|ARPP21_ENST00000438071.1_Missense_Mutation_p.E47D|ARPP21_ENST00000396481.2_Missense_Mutation_p.E47D	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	47					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGCGGCTGGAGGCTCAGAATC	0.333																																																	0													72	83	79					3																	35724351		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.141G>T	3.37:g.35724351G>T	ENSP00000187397:p.Glu47Asp		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E47D	ENST00000187397.4	37	c.141	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592661	0.46214	.	.	ENSG00000172995	ENST00000450234;ENST00000428373;ENST00000458225;ENST00000337271;ENST00000444190;ENST00000449196;ENST00000187397;ENST00000452563;ENST00000438577;ENST00000427542;ENST00000474696;ENST00000412048;ENST00000396482;ENST00000432682;ENST00000432450;ENST00000413378;ENST00000417925;ENST00000396481;ENST00000441454;ENST00000436702;ENST00000438071	T;T;T;T;T;T;T	0.43688	0.94;1.94;1.94;1.94;1.94;0.94;1.94	6.02	-8.43	0.00953	.	0.693376	0.14002	N	0.348026	T	0.10680	0.0261	N	0.01352	-0.895	0.19575	N	0.999969	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.38134	-0.9675	10	0.15952	T	0.53	-4.0006	9.492	0.38965	0.2547:0.0:0.6177:0.1276	.	47;47;47;47	Q9UBL0-3;A8K1F3;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	D	47	ENSP00000411644:E47D;ENSP00000414351:E47D;ENSP00000337792:E47D;ENSP00000405276:E47D;ENSP00000187397:E47D;ENSP00000390169:E47D;ENSP00000412326:E47D	ENSP00000187397:E47D	E	+	3	2	ARPP21	35699355	0.095000	0.21747	0.753000	0.31225	0.936000	0.57629	-0.661000	0.05311	-1.056000	0.03205	0.655000	0.94253	GAG	ARPP21	-	NULL		0.333	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35724351	1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	0.758	T	T	35724351	G	T	35724351	3	4	190	1	0	0	0	0	1	0	0	0	979	991	35	4	147	4	ARPP21	3	35724351	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	25948369	35724351	162298079	17	36430										
ARPP21	10777	genome.wustl.edu	37	chr3	35835430	35835430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gtgcaagtatgagcaatgctGgttggcaggtcaaattctga	13	6	2	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:35835430G>T	ENST00000187397.4	+	20	2875	c.2419G>T	c.(2419-2421)Ggt>Tgt	p.G807C	ARPP21_ENST00000444190.1_Missense_Mutation_p.G788C|ARPP21_ENST00000337271.5_Missense_Mutation_p.G788C|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000417925.1_Missense_Mutation_p.G808C|ARPP21_ENST00000458225.1_Missense_Mutation_p.G808C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	807					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAGCAATGCTGGTTGGCAGGT	0.493																																																	0													71	63	66					3																	35835430		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2419G>T	3.37:g.35835430G>T	ENSP00000187397:p.Gly807Cys		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.G808C	ENST00000187397.4	37	c.2422	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033205	0.75504	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	6.17	6.17	0.99709	.	0.155479	0.45867	D	0.000321	T	0.63283	0.2498	L	0.51422	1.61	0.45867	D	0.998729	D;D;P;D	0.63046	0.965;0.992;0.942;0.965	P;D;P;P	0.63381	0.776;0.914;0.451;0.776	T	0.58787	-0.7575	10	0.49607	T	0.09	-10.7637	19.0599	0.93085	0.0:0.0:1.0:0.0	.	808;330;807;788	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	C	808;788;788;807;808	ENSP00000414351:G808C;ENSP00000337792:G788C;ENSP00000405276:G788C;ENSP00000187397:G807C;ENSP00000412326:G808C	ENSP00000187397:G807C	G	+	1	0	ARPP21	35810434	1.000000	0.71417	0.902000	0.35471	0.906000	0.53458	4.990000	0.63876	2.941000	0.99782	0.655000	0.94253	GGT	ARPP21	-	NULL		0.493	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35835430	1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	0.992	T	T	35835430	G	T	35835430	3	4	190	1	0	0	0	0	1	0	0	0	979	1348	47	4	2502	4	ARPP21	3	35835430	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	111079	35835430	162187000	18	36431										
PLXNA1	5361	genome.wustl.edu	37	chr3	126723998	126723998	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aactgctccttcgaggacttCacggaatctgagagcgtcct	10	12	2	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:126723998C>T	ENST00000393409.2	+	6	1809	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	PLXNA1_ENST00000251772.4_Silent_p.F580F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	603					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCGAGGACTTCACGGAATCTG	0.677																																																	0													55	44	48					3																	126723998		2200	4298	6498	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1809C>T	3.37:g.126723998C>T				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F603	ENST00000393409.2	37	c.1809	CCDS33847.2	3																																																																																			PLXNA1	-	NULL		0.677	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	C	NM_032242		126723998	1	no_errors	ENST00000393409	ensembl	human	known	70_37	silent	SNP	0.998	T	T	126723998	C	T	126723998	2	4	190	1	0	0	0	0	0	0	0	1	12143	825	29	1		1	PLXNA1	3	126723998	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	90888568	126723998	71298432	19	36432										
PIK3CA	5290	genome.wustl.edu	37	chr3	178927432	178927432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	acattcctgatcttcctcgtGctgctcgactttgcctttcc	6	15	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:178927432G>A	ENST00000263967.3	+	7	1352	c.1195G>A	c.(1195-1197)Gct>Act	p.A399T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	399	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCTTCCTCGTGCTGCTCGACT	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0													208	197	200					3																	178927432		1872	4110	5982	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1195G>A	3.37:g.178927432G>A	ENSP00000263967:p.Ala399Thr		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.A399T	ENST00000263967.3	37	c.1195	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039077	0.75617	.	.	ENSG00000121879	ENST00000263967	T	0.69926	-0.44	5.16	5.16	0.70880	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.054669	0.64402	D	0.000001	T	0.55705	0.1937	N	0.24115	0.695	0.80722	D	1	B	0.28178	0.202	B	0.31390	0.129	T	0.51293	-0.8724	10	0.19147	T	0.46	-3.8168	18.6468	0.91413	0.0:0.0:1.0:0.0	.	399	P42336	PK3CA_HUMAN	T	399	ENSP00000263967:A399T	ENSP00000263967:A399T	A	+	1	0	PIK3CA	180410126	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.163000	0.71880	2.423000	0.82170	0.467000	0.42956	GCT	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178927432	1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A	A	178927432	G	A	178927432	3	1	190	1	0	0	0	0	1	0	0	0	11937	1319	46	4	1217	4	PIK3CA	3	178927432	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	52203434	178927432	19094998	20	36433										
TP63	8626	genome.wustl.edu	37	chr3	189582097	189582097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gatcaaggtgatgaccccacCtcctcagggagctgttatcc	10	13	2	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:189582097C>T	ENST00000264731.3	+	5	745	c.656C>T	c.(655-657)cCt>cTt	p.P219L	TP63_ENST00000320472.5_Missense_Mutation_p.P219L|TP63_ENST00000456148.1_Missense_Mutation_p.P125L|TP63_ENST00000449992.1_Missense_Mutation_p.P40L|TP63_ENST00000437221.1_Missense_Mutation_p.P125L|TP63_ENST00000354600.5_Missense_Mutation_p.P125L|TP63_ENST00000392460.3_Missense_Mutation_p.P219L|TP63_ENST00000418709.2_Missense_Mutation_p.P219L|TP63_ENST00000440651.2_Missense_Mutation_p.P219L|TP63_ENST00000392463.2_Missense_Mutation_p.P125L|TP63_ENST00000382063.4_Missense_Mutation_p.P134L|TP63_ENST00000392461.3_Missense_Mutation_p.P125L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	219					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATGACCCCACCTCCTCAGGGA	0.537										HNSCC(45;0.13)																																							0													147	146	146					3																	189582097		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.656C>T	3.37:g.189582097C>T	ENSP00000264731:p.Pro219Leu		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.P219L	ENST00000264731.3	37	c.656	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135649	0.77662	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.36	4.48	0.54585	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.051039	0.85682	N	0.000000	D	0.99851	0.9931	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96597	0.9442	9	.	.	.	-10.753	13.5442	0.61693	0.0:0.9245:0.0:0.0755	.	40;219;219;125;125;125;125;219;219;219	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	L	219;219;219;219;219;134;125;125;125;125;40;125	ENSP00000264731:P219L;ENSP00000407144:P219L;ENSP00000317510:P219L;ENSP00000376253:P219L;ENSP00000394337:P219L;ENSP00000371495:P134L;ENSP00000346614:P125L;ENSP00000392488:P125L;ENSP00000376256:P125L;ENSP00000376254:P125L;ENSP00000387839:P40L;ENSP00000389485:P125L	.	P	+	2	0	TP63	191064791	1.000000	0.71417	0.948000	0.38648	0.511000	0.34104	6.050000	0.71063	1.391000	0.46566	0.655000	0.94253	CCT	TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.537	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	C	NM_003722		189582097	1	no_errors	ENST00000264731	ensembl	human	known	70_37	missense	SNP	1.000	T	T	189582097	C	T	189582097	3	4	190	1	0	0	0	0	1	0	0	0	16423	681	24	4	720	4	TP63	3	189582097	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	10654665	189582097	8440333	21	36434										
JAKMIP1	152789	genome.wustl.edu	37	chr4	6042435	6042435	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aggtagcccttctgcctgctGaacaggtcctgagaaagagg	13	10	1	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:6042435G>A	ENST00000409021.3	-	18	2555	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	JAKMIP1_ENST00000409371.3_Silent_p.F517F	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	44					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGCCTGCTGAACAGGTCCT	0.567																																																	0													32	36	34					4																	6042435		2076	4229	6305	SO:0001819	synonymous_variant	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2106C>T	4.37:g.6042435G>A			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	NULL	p.F702	ENST00000409021.3	37	c.2106	CCDS47005.1	4																																																																																			JAKMIP1	-	NULL		0.567	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	G	NM_144720		6042435	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	silent	SNP	1.000	A	A	6042435	G	A	6042435	2	1	190	1	0	0	0	0	0	0	0	1	7960	1281	45	1		1	JAKMIP1	4	6042435	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09		6042435	185111841	22	36435										
UGT2B10	7365	genome.wustl.edu	37	chr4	69692182	69692182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ccttaggtctcaatactcgaCtgtacaagtggataccccag	8	12	1	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:69692182C>A	ENST00000265403.7	+	4	1081	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	UGT2B10_ENST00000458688.2_Missense_Mutation_p.L268M	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	352					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CAATACTCGACTGTACAAGTG	0.383																																					Melanoma(133;755 1763 25578 26334 46021)												0													146	138	141					4																	69692182		2203	4299	6502	SO:0001583	missense	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1054C>A	4.37:g.69692182C>A	ENSP00000265403:p.Leu352Met		A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L352M	ENST00000265403.7	37	c.1054		4	.	.	.	.	.	.	.	.	.	.	c	5.046	0.194165	0.09599	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.67523	-0.27;-0.27	2.25	-0.362	0.12560	.	0.798952	0.09705	U	0.766496	T	0.75004	0.3791	M	0.87328	2.875	0.09310	N	1	P;D	0.57899	0.839;0.981	P;P	0.54759	0.591;0.76	T	0.63157	-0.6700	10	0.87932	D	0	.	3.8616	0.08998	0.4278:0.3695:0.2028:0.0	.	268;352	B4DPP1;P36537	.;UDB10_HUMAN	M	352;268	ENSP00000265403:L352M;ENSP00000413420:L268M	ENSP00000265403:L352M	L	+	1	2	UGT2B10	69726771	0.001000	0.12720	0.775000	0.31657	0.011000	0.07611	0.270000	0.18607	0.130000	0.18549	0.184000	0.17185	CTG	UGT2B10	-	pfam_UDP_glucos_trans		0.383	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	UGT2B10	HGNC	protein_coding	OTTHUMT00000365169.1	C	NM_001075		69692182	1	no_errors	ENST00000265403	ensembl	human	known	70_37	missense	SNP	0.014	A	A	69692182	C	A	69692182	3	1	190	1	0	0	0	0	1	0	0	0	16987	564	20	4	1068	4	UGT2B10	4	69692182	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	63649747	69692182	121462094	23	36436										
SHROOM3	57619	genome.wustl.edu	37	chr4	77659914	77659914	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ctgctttgtctttcttccagCtcctctactagtgacctctc	5	15	4	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:77659914C>A	ENST00000296043.6	+	5	1541	c.588C>A	c.(586-588)agC>agA	p.S196R	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	196					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTTCTTCCAGCTCCTCTACTA	0.512																																																	0													106	114	111					4																	77659914		2203	4300	6503	SO:0001630	splice_region_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.588-1C>A	4.37:g.77659914C>A			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S196R	ENST00000296043.6	37	c.588	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342458	0.61073	.	.	ENSG00000138771	ENST00000296043;ENST00000380735	T	0.47869	0.83	6.06	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.82323	2.585	0.43734	D	0.996227	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	T	0.69709	-0.5072	9	.	.	.	.	10.0863	0.42421	0.0:0.8031:0.0:0.1969	.	20;196	B4E244;Q8TF72	.;SHRM3_HUMAN	R	196;71	ENSP00000296043:S196R	.	S	+	3	2	SHROOM3	77878938	0.998000	0.40836	1.000000	0.80357	0.784000	0.44337	0.500000	0.22562	2.882000	0.98803	0.655000	0.94253	AGC	SHROOM3	-	NULL		0.512	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	C	NM_020859	Missense_Mutation	77659914	1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77659914	C	A	77659914	5	1	190	1	0	0	0	0	0	0	1	0	14325	811	28	4	606	4	SHROOM3	4	77659914	Splice_Site	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	7967732	77659914	113494362	24	36437										
NFKB1	4790	genome.wustl.edu	37	chr4	103501695	103501695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ttttcccctgtgaacagaagCccccaatgcatccaacttga	6	14	0	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:103501695C>A	ENST00000505458.1	+	9	1008	c.731C>A	c.(730-732)gCc>gAc	p.A244D	NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000394820.4_Missense_Mutation_p.A244D|NFKB1_ENST00000226574.4_Missense_Mutation_p.A245D|NFKB1_ENST00000600343.1_Missense_Mutation_p.A64D			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	244	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TGAACAGAAGCCCCCAATGCA	0.433																																																	0													97	96	96					4																	103501695		2203	4300	6503	SO:0001583	missense	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.731C>A	4.37:g.103501695C>A	ENSP00000424790:p.Ala244Asp		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.A245D	ENST00000505458.1	37	c.734	CCDS54783.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.282571	0.95489	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.43688	0.95;0.94;0.94;1.34	5.5	5.5	0.81552	Rel homology (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.969	D;D;P	0.91635	0.997;0.999;0.738	T	0.75246	-0.3385	10	0.87932	D	0	.	19.4314	0.94768	0.0:1.0:0.0:0.0	.	64;244;245	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	D	245;244;244;38	ENSP00000226574:A245D;ENSP00000378297:A244D;ENSP00000424790:A244D;ENSP00000424815:A38D	ENSP00000226574:A245D	A	+	2	0	NFKB1	103720733	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.571000	0.82399	2.588000	0.87417	0.650000	0.86243	GCC	NFKB1	-	superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor		0.433	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	C			103501695	1	no_errors	ENST00000226574	ensembl	human	known	70_37	missense	SNP	1.000	A	A	103501695	C	A	103501695	3	1	190	1	0	0	0	0	1	0	0	0	10399	739	26	4	764	4	NFKB1	4	103501695	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	25841781	103501695	87652581	25	36438										
DKK2	27123	genome.wustl.edu	37	chr4	107956608	107956608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gatcgattggcggcctgaccAggcgtctccccgcccagaga	13	15	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:107956608A>G	ENST00000285311.3	-	1	846	c.141T>C	c.(139-141)ccT>ccC	p.P47P	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	47					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CGGCCTGACCAGGCGTCTCCC	0.602																																																	0													70	73	72					4																	107956608		2203	4300	6503	SO:0001819	synonymous_variant	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.141T>C	4.37:g.107956608A>G			A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	p.P47	ENST00000285311.3	37	c.141	CCDS3675.1	4																																																																																			DKK2	-	NULL		0.602	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DKK2	HGNC	protein_coding	OTTHUMT00000253959.4	A			107956608	-1	no_errors	ENST00000285311	ensembl	human	novel	70_37	silent	SNP	0.519	G	G	107956608	A	G	107956608	2	3	190	1	0	0	0	0	0	0	0	1	4555	175	7	5		5	DKK2	4	107956608	Silent	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	4454913	107956608	83197668	26	36439										
CYP2U1	113612	genome.wustl.edu	37	chr4	108871578	108871578	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tataactatttcaaggagatGaagagcatctccaagaagag	9	6	2	5			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:108871578G>T	ENST00000332884.6	+	5	1909	c.1634G>T	c.(1633-1635)tGa>tTa	p.*545L	CYP2U1_ENST00000508453.1_Nonstop_Mutation_p.*336L|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	0					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TCAAGGAGATGAAGAGCATCT	0.388																																																	0													54	54	54					4																	108871578		2203	4300	6503	SO:0001578	stop_lost	113612			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1634G>T	4.37:g.108871578G>T	ENSP00000333212:p.*545Leuext*18		B2RMV7|Q96EQ6	Nonstop_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.*545L	ENST00000332884.6	37	c.1634	CCDS34047.1	4	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316380	0.40996	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	.	.	.	5.26	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4147	0.32664	0.4355:0.0:0.5645:0.0	.	.	.	.	L	545;502;336	.	.	X	+	2	2	CYP2U1	109091027	0.998000	0.40836	0.824000	0.32777	0.976000	0.68499	0.401000	0.20948	0.274000	0.22072	0.555000	0.69702	TGA	CYP2U1	-	NULL		0.388	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2U1	HGNC	protein_coding	OTTHUMT00000363691.2	G	NM_183075		108871578	1	no_errors	ENST00000332884	ensembl	human	known	70_37	nonstop	SNP	0.977	T	T	108871578	G	T	108871578	4	4	190	1	0	0	0	0	0	0	0	0	4180	1285	45	3	1652	3	CYP2U1	4	108871578	Nonstop_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	914970	108871578	82282698	27	36440										
IPO11	51194	genome.wustl.edu	37	chr5	61786023	61786023	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gtttaaaaaccagcttcttcCagaattacaagtcattcaca	4	10	3	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:61786023C>G	ENST00000325324.6	+	15	1608	c.1439C>G	c.(1438-1440)cCa>cGa	p.P480R	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.P520R	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	480					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CAGCTTCTTCCAGAATTACAA	0.294																																																	0													86	90	89					5																	61786023		2202	4299	6501	SO:0001583	missense	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1439C>G	5.37:g.61786023C>G	ENSP00000316651:p.Pro480Arg		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.P520R	ENST00000325324.6	37	c.1559	CCDS34167.1	5	.	.	.	.	.	.	.	.	.	.	C	8.818	0.936939	0.18206	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.54279	0.58;0.58	4.87	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.113759	0.56097	D	0.000026	T	0.35508	0.0934	N	0.12746	0.255	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.15052	0.012;0.003	T	0.15464	-1.0436	10	0.41790	T	0.15	.	14.0368	0.64649	0.0:0.8487:0.1513:0.0	.	520;480	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	R	480;520;50	ENSP00000316651:P480R;ENSP00000386992:P520R	ENSP00000316651:P480R	P	+	2	0	IPO11	61821780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.695000	0.61767	2.403000	0.81681	0.650000	0.86243	CCA	IPO11	-	superfamily_ARM-type_fold		0.294	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1	C	NM_016338		61786023	1	no_errors	ENST00000409296	ensembl	human	known	70_37	missense	SNP	1.000	G	G	61786023	C	G	61786023	3	3	190	1	0	0	0	0	1	0	0	0	7813	594	21	4	1617	4	IPO11	5	61786023	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		61786023	119129237	28	36441										
RAD50	10111	genome.wustl.edu	37	chr5	131893139	131893139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gttggacccaatggggcgggAaagacggtaagtcttcagta	15	7	2	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:131893139A>G	ENST00000265335.6	+	1	510	c.123A>G	c.(121-123)ggA>ggG	p.G41G	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	41					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGGCGGGAAAGACGGTAA	0.468								Homologous recombination																																									0													85	92	90					5																	131893139		2203	4300	6503	SO:0001819	synonymous_variant	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.123A>G	5.37:g.131893139A>G			B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.G41	ENST00000265335.6	37	c.123	CCDS34233.1	5																																																																																			RAD50	-	tigrfam_Rad50		0.468	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	A	NM_005732		131893139	1	no_errors	ENST00000265335	ensembl	human	known	70_37	silent	SNP	0.999	G	G	131893139	A	G	131893139	2	3	190	1	0	0	0	0	0	0	0	1	13014	233	9	5		5	RAD50	5	131893139	Silent	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	70107116	131893139	49022121	29	36442										
PCDHGA8	9708	genome.wustl.edu	37	chr5	140772400	140772400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aatggccgctccacagagtcGccccagacgcggcgagctga	13	15	0	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:140772400G>A	ENST00000398604.2	+	1	20	c.20G>A	c.(19-21)cGc>cAc	p.R7H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	7					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACAGAGTCGCCCCAGACGC	0.552																																																	0													12	15	14					5																	140772400		2087	4244	6331	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.20G>A	5.37:g.140772400G>A	ENSP00000381605:p.Arg7His		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R7H	ENST00000398604.2	37	c.20	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	9.118	1.008141	0.19199	.	.	ENSG00000253767	ENST00000398604	T	0.48522	0.81	4.87	-8.68	0.00859	.	.	.	.	.	T	0.31575	0.0801	L	0.56124	1.755	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.10450	0.002;0.005	T	0.28004	-1.0057	9	0.13470	T	0.59	.	6.6638	0.23029	0.1655:0.0:0.4282:0.4063	.	7;7	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	H	7	ENSP00000381605:R7H	ENSP00000381605:R7H	R	+	2	0	PCDHGA8	140752584	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.348000	0.01094	-1.046000	0.03246	-0.857000	0.03018	CGC	PCDHGA8	-	NULL		0.552	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	G	NM_032088		140772400	1	no_errors	ENST00000398604	ensembl	human	known	70_37	missense	SNP	0.000	A	A	140772400	G	A	140772400	3	1	190	1	0	0	0	0	1	0	0	0	11584	1087	38	2	22	2	PCDHGA8	5	140772400	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	8879261	140772400	40142860	30	36443										
GRM6	2916	genome.wustl.edu	37	chr5	178418866	178418866	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tgcctcggagcccccagctcAccagcctctcgggagatctg	11	17	3	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:178418866A>C	ENST00000517717.1	-	3	760		c.e3+1		GRM6_ENST00000231188.5_Splice_Site|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCCCCAGCTCACCAGCCTCTC	0.627																																																	0													49	45	46					5																	178418866		2203	4300	6503	SO:0001630	splice_region_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.721+1T>G	5.37:g.178418866A>C				Splice_Site	SNP	-	e2+2	ENST00000517717.1	37	c.721+2	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707591	0.68615	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8421	0.63446	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRM6	178351472	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	7.216000	0.77974	2.217000	0.71921	0.533000	0.62120	.	GRM6	-	-		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	A		Intron	178418866	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	178418866	A	C	178418866	5	2	190	1	0	0	0	0	0	0	1	0	6821	173	6	5	1946	5	GRM6	5	178418866	Splice_Site	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	37646466	178418866	2496394	31	36444										
GFPT2	9945	genome.wustl.edu	37	chr5	179744046	179744046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agatctccttctgcataaacGcactgaagttacctggtcaa	7	11	3	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:179744046G>A	ENST00000253778.8	-	11	1140	c.971C>T	c.(970-972)gCg>gTg	p.A324V	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	324					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTGCATAAACGCACTGAAGTT	0.393																																																	0													134	125	128					5																	179744046		1848	4095	5943	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.971C>T	5.37:g.179744046G>A	ENSP00000253778:p.Ala324Val		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.A324V	ENST00000253778.8	37	c.971	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212281	0.79240	.	.	ENSG00000131459	ENST00000253778	T	0.71461	-0.57	5.89	5.89	0.94794	.	0.047038	0.85682	D	0.000000	T	0.64516	0.2605	L	0.47716	1.5	0.80722	D	1	P	0.34462	0.454	B	0.26969	0.075	T	0.61232	-0.7104	9	.	.	.	-27.483	20.2566	0.98424	0.0:0.0:1.0:0.0	.	324	O94808	GFPT2_HUMAN	V	324	ENSP00000253778:A324V	.	A	-	2	0	GFPT2	179676652	1.000000	0.71417	0.432000	0.26747	0.850000	0.48378	7.890000	0.87313	2.793000	0.96121	0.561000	0.74099	GCG	GFPT2	-	tigrfam_GlmS_trans		0.393	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	G	NM_005110		179744046	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	0.989	A	A	179744046	G	A	179744046	3	1	190	1	0	0	0	0	1	0	0	0	6365	1087	38	2	1113	2	GFPT2	5	179744046	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	1325180	179744046	1171214	32	36445										
TXNDC5	81567	genome.wustl.edu	37	chr6	7895362	7895362	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gtgcaacgtgcagctcaaagTtgcttgctgagagctcatac	11	10	2	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:7895362T>G	ENST00000379757.4	-	4	630	c.593A>C	c.(592-594)aAc>aCc	p.N198T	TXNDC5_ENST00000473453.1_Missense_Mutation_p.N90T|TXNDC5_ENST00000539054.1_Missense_Mutation_p.N126T|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	198	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CAGCTCAAAGTTGCTTGCTGA	0.532																																					Ovarian(119;1430 1625 3928 26125 34589)												0													77	58	65					6																	7895362		2203	4300	6503	SO:0001583	missense	81567			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.593A>C	6.37:g.7895362T>G	ENSP00000369081:p.Asn198Thr		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.N198T	ENST00000379757.4	37	c.593	CCDS4505.1	6	.	.	.	.	.	.	.	.	.	.	.	8.597	0.885945	0.17540	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.45276	0.9;0.9;0.9	5.47	5.47	0.80525	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	N	0.26042	0.785	0.58432	D	0.999999	B;D	0.89917	0.07;1.0	B;D	0.91635	0.135;0.999	T	0.17561	-1.0365	10	0.07030	T	0.85	.	15.5629	0.76262	0.0:0.0:0.0:1.0	.	126;198	Q86UY0;Q8NBS9	.;TXND5_HUMAN	T	126;198;90	ENSP00000442453:N126T;ENSP00000369081:N198T;ENSP00000420784:N90T	ENSP00000442453:N126T	N	-	2	0	TXNDC5	7840361	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	3.745000	0.55119	2.065000	0.61736	0.533000	0.62120	AAC	TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase		0.532	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	T	NM_030810		7895362	-1	no_errors	ENST00000379757	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7895362	T	G	7895362	3	3	190	1	0	0	0	0	1	0	0	0	16830	1725	60	5	733	5	TXNDC5	6	7895362	Missense_Mutation	SNP	T	TCGA-R2-A69V-01A-11D-A32I-09		7895362	163219705	33	36446										
SCGN	10590	genome.wustl.edu	37	chr6	25689739	25689739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aggaaaagggactttgagaaAatctttgcctactatgatgt	10	5	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:25689739A>G	ENST00000377961.2	+	9	780	c.612A>G	c.(610-612)aaA>aaG	p.K204K	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	204	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACTTTGAGAAAATCTTTGCCT	0.403																																																	0													274	263	267					6																	25689739		2203	4300	6503	SO:0001819	synonymous_variant	10590			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.612A>G	6.37:g.25689739A>G			A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K204	ENST00000377961.2	37	c.612	CCDS4561.1	6																																																																																			SCGN	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.403	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGN	HGNC	protein_coding	OTTHUMT00000040067.1	A			25689739	1	no_errors	ENST00000377961	ensembl	human	known	70_37	silent	SNP	0.996	G	G	25689739	A	G	25689739	2	3	190	1	0	0	0	0	0	0	0	1	13933	11	1	5		5	SCGN	6	25689739	Silent	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	17794377	25689739	145425328	34	36447										
LHFPL5	222662	genome.wustl.edu	37	chr6	35773528	35773528	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aactcgcgagccgtgggcgtGatgtggggtaccctcaccat	14	12	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:35773528G>C	ENST00000373853.1	+	1	459	c.81G>C	c.(79-81)gtG>gtC	p.V27V	LHFPL5_ENST00000360215.1_Silent_p.V27V			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	27					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CCGTGGGCGTGATGTGGGGTA	0.612																																																	0													196	171	180					6																	35773528		2203	4300	6503	SO:0001819	synonymous_variant	222662			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.81G>C	6.37:g.35773528G>C			B3KX66	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.V27	ENST00000373853.1	37	c.81	CCDS4812.1	6																																																																																			LHFPL5	-	pfam_Lipome_HGMIC_fus_partner-like		0.612	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding	OTTHUMT00000040323.1	G	NM_182548		35773528	1	no_errors	ENST00000360215	ensembl	human	known	70_37	silent	SNP	1.000	C	C	35773528	G	C	35773528	2	2	190	1	0	0	0	0	0	0	0	1	8788	1277	45	1		1	LHFPL5	6	35773528	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	10083789	35773528	135341539	35	36448										
MED20	9477	genome.wustl.edu	37	chr6	41874892	41874892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	actggaccatggtatctgctGggccgtagaccgcatcatgt	12	11	2	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:41874892G>T	ENST00000265350.4	-	4	637	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	186					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTATCTGCTGGGCCGTAGAC	0.567																																																	0													105	91	96					6																	41874892		2203	4300	6503	SO:0001583	missense	9477			AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.557C>A	6.37:g.41874892G>T	ENSP00000265350:p.Pro186Gln		B4DE08|O95821|Q5T8J4|Q9Y429	Missense_Mutation	SNP	pfam_Mediator_Med20	p.P186Q	ENST00000265350.4	37	c.557	CCDS4862.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.338302	0.95783	.	.	ENSG00000124641	ENST00000265350	.	.	.	5.93	5.93	0.95920	.	0.050443	0.85682	D	0.000000	D	0.82504	0.5051	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.83109	-0.0124	9	0.59425	D	0.04	-9.6308	19.9359	0.97142	0.0:0.0:1.0:0.0	.	186	Q9H944	MED20_HUMAN	Q	186	.	ENSP00000265350:P186Q	P	-	2	0	MED20	41982870	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.894000	0.87336	2.814000	0.96858	0.655000	0.94253	CCA	MED20	-	pfam_Mediator_Med20		0.567	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED20	HGNC	protein_coding	OTTHUMT00000040539.1	G	NM_004275		41874892	-1	no_errors	ENST00000265350	ensembl	human	known	70_37	missense	SNP	1.000	T	T	41874892	G	T	41874892	3	4	190	1	0	0	0	0	1	0	0	0	9461	1348	47	4	85	4	MED20	6	41874892	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	6101364	41874892	129240175	36	36449										
TRERF1	55809	genome.wustl.edu	37	chr6	42236026	42236026	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cagatctgagctcgctgggtCtcccattcctgtgtcaggag	12	12	3	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:42236026C>A	ENST00000372922.4	-	5	1865	c.1303G>T	c.(1303-1305)Gac>Tac	p.D435Y	TRERF1_ENST00000354325.2_Missense_Mutation_p.D435Y|TRERF1_ENST00000340840.2_Missense_Mutation_p.D435Y|TRERF1_ENST00000541110.1_Missense_Mutation_p.D435Y|TRERF1_ENST00000372917.4_Missense_Mutation_p.D435Y	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	435					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCGCTGGGTCTCCCATTCCT	0.632																																																	0													50	54	52					6																	42236026		2203	4300	6503	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1303G>T	6.37:g.42236026C>A	ENSP00000362013:p.Asp435Tyr		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.D435Y	ENST00000372922.4	37	c.1303	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612886	0.46631	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.15603	2.54;2.41;2.57;2.41;2.41	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000017	T	0.20251	0.0487	L	0.27053	0.805	0.35181	D	0.772498	D;D;D;D;D	0.65815	0.995;0.991;0.991;0.995;0.995	P;P;P;P;P	0.61201	0.885;0.77;0.77;0.885;0.885	T	0.01596	-1.1316	10	0.59425	D	0.04	-25.175	19.6316	0.95708	0.0:1.0:0.0:0.0	.	435;435;435;274;274	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	Y	435	ENSP00000439689:D435Y;ENSP00000362008:D435Y;ENSP00000362013:D435Y;ENSP00000339438:D435Y;ENSP00000346285:D435Y	ENSP00000339438:D435Y	D	-	1	0	TRERF1	42344004	0.999000	0.42202	1.000000	0.80357	0.634000	0.38068	2.719000	0.47244	2.735000	0.93741	0.561000	0.74099	GAC	TRERF1	-	NULL		0.632	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	C	NM_033502		42236026	-1	no_errors	ENST00000541110	ensembl	human	known	70_37	missense	SNP	0.997	A	A	42236026	C	A	42236026	3	1	190	1	0	0	0	0	1	0	0	0	16506	913	32	3	2355	3	TRERF1	6	42236026	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	361134	42236026	128879041	37	36450										
SLC29A1	2030	genome.wustl.edu	37	chr6	44199824	44199824	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gttgaggtcaagtccagcatCgcaggcagcagcacctgggg	15	11	1	1	rs375868043		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:44199824C>T	ENST00000393841.1	+	11	1445	c.954C>T	c.(952-954)atC>atT	p.I318I	SLC29A1_ENST00000393844.1_Silent_p.I318I|SLC29A1_ENST00000371708.1_Silent_p.I318I|SLC29A1_ENST00000371713.1_Silent_p.I318I|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371740.5_Silent_p.I318I|SLC29A1_ENST00000313248.7_Silent_p.I397I|SLC29A1_ENST00000371724.1_Silent_p.I318I|SLC29A1_ENST00000427851.2_Silent_p.I318I|SLC29A1_ENST00000371755.3_Silent_p.I318I|SLC29A1_ENST00000371731.1_Silent_p.I318I	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	318					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	AGTCCAGCATCGCAGGCAGCA	0.547													C|||	1	0.000199681	0	0	5008	,	,		22151	0.001		0	False		,,,				2504	0																0								C	,,,,	0,4406		0,0,2203	118	102	107		954,954,954,954,954	-5.1	0.7	6		107	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC29A1	NM_001078174.1,NM_001078175.1,NM_001078176.1,NM_001078177.1,NM_004955.2	,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,	318/457,318/457,318/457,318/457,318/457	44199824	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.954C>T	6.37:g.44199824C>T			B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.I397	ENST00000393841.1	37	c.1191	CCDS4908.1	6																																																																																			SLC29A1	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt		0.547	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	C			44199824	1	no_errors	ENST00000313248	ensembl	human	known	70_37	silent	SNP	0.123	T	T	44199824	C	T	44199824	2	4	190	1	0	0	0	0	0	0	0	1	14564	874	31	1		1	SLC29A1	6	44199824	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	1963798	44199824	126915243	38	36451										
C6orf138	442213	genome.wustl.edu	37	chr6	48036318	48036318	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ggcagaacgactggagccctCtgcgaagcacctgccgcagc	13	15	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:48036318C>T	ENST00000339488.4	-	1	107	c.74G>A	c.(73-75)aGa>aAa	p.R25K	PTCHD4_ENST00000543600.1_Missense_Mutation_p.R8K	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	25						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTGGAGCCCTCTGCGAAGCAC	0.627																																																	0													7	9	9					6																	48036318		1932	4091	6023	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.74G>A	6.37:g.48036318C>T	ENSP00000341914:p.Arg25Lys		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.R25K	ENST00000339488.4	37	c.74	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986864	0.53934	.	.	ENSG00000244694	ENST00000339488;ENST00000543600	D;T	0.92446	-3.04;0.6	4.54	4.54	0.55810	.	0.275088	0.34750	N	0.003707	D	0.82426	0.5034	L	0.55743	1.74	0.80722	D	1	B;B	0.22541	0.064;0.071	B;B	0.23018	0.021;0.043	T	0.80522	-0.1345	10	0.05620	T	0.96	.	17.3253	0.87245	0.0:1.0:0.0:0.0	.	25;8	Q6ZW05;B0QZ29	CF138_HUMAN;.	K	25;8	ENSP00000341914:R25K;ENSP00000439864:R8K	ENSP00000341914:R25K	R	-	2	0	C6orf138	48144277	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.645000	0.67909	2.061000	0.61500	0.442000	0.29010	AGA	PTCHD4	-	NULL		0.627	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	C	NM_001013732		48036318	-1	no_errors	ENST00000339488	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48036318	C	T	48036318	3	4	190	1	0	0	0	0	1	0	0	0	2337	913	32	1	2478	1	C6orf138	6	48036318	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	3836494	48036318	123078749	39	36452										
RARS2	57038	genome.wustl.edu	37	chr6	88273904	88273904	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tggtcttgaatggtcattgtCtttttccaataaagaatcca	7	7	3	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:88273904C>A	ENST00000369536.5	-	3	202	c.157G>T	c.(157-159)Gac>Tac	p.D53Y		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	53					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TGGTCATTGTCTTTTTCCAAT	0.353																																																	0													141	129	133					6																	88273904		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.157G>T	6.37:g.88273904C>A	ENSP00000358549:p.Asp53Tyr		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.D53Y	ENST00000369536.5	37	c.157	CCDS5011.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.367|3.367	-0.129324|-0.129324	0.06753|0.06753	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000369536;ENST00000369523|ENST00000451155	T|T	0.73363|0.48522	-0.74|0.81	5.15|5.15	4.0|4.0	0.46444|0.46444	Arginyl tRNA synthetase, class Ia, N-terminal (2);|.	0.592772|.	0.19226|.	N|.	0.119541|.	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.21381|.	0.055|.	B|.	0.21151|.	0.033|.	T|T	0.13255|0.13255	-1.0516|-1.0516	10|7	0.59425|0.42905	D|T	0.04|0.14	.|.	8.314|8.314	0.32088|0.32088	0.0:0.095:0.0:0.905|0.0:0.095:0.0:0.905	.|.	53|.	Q5T160|.	SYRM_HUMAN|.	Y|N	53;80|80	ENSP00000358549:D53Y|ENSP00000389656:K80N	ENSP00000358536:D80Y|ENSP00000389656:K80N	D|K	-|-	1|3	0|2	RARS2|RARS2	88330623|88330623	0.110000|0.110000	0.22057|0.22057	0.018000|0.018000	0.16275|0.16275	0.004000|0.004000	0.04260|0.04260	2.920000|2.920000	0.48844|0.48844	0.901000|0.901000	0.36495|0.36495	-0.312000|-0.312000	0.09012|0.09012	GAC|AAG	RARS2	-	superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia		0.353	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88273904	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	0.022	A	A	88273904	C	A	88273904	3	1	190	1	0	0	0	0	1	0	0	0	13089	913	32	3	1651	3	RARS2	6	88273904	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	40237586	88273904	82841163	40	36453										
ROS1	6098	genome.wustl.edu	37	chr6	117710731	117710731	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cctgttggaaaatgaccttgCcatctgtgacaagaaagtca	9	9	2	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:117710731C>A	ENST00000368508.3	-	12	1739	c.1541G>T	c.(1540-1542)gGc>gTc	p.G514V	ROS1_ENST00000368507.3_Missense_Mutation_p.G523V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	514					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATGACCTTGCCATCTGTGAC	0.423			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													100	101	101					6																	117710731		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1541G>T	6.37:g.117710731C>A	ENSP00000357494:p.Gly514Val		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G514V	ENST00000368508.3	37	c.1541	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897761	0.72639	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.81579	-1.51;-1.18	5.72	5.72	0.89469	.	0.091412	0.48286	D	0.000184	D	0.82618	0.5076	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84829	0.0801	10	0.87932	D	0	.	17.0238	0.86440	0.0:1.0:0.0:0.0	.	514	P08922	ROS1_HUMAN	V	514;523	ENSP00000357494:G514V;ENSP00000357493:G523V	ENSP00000357493:G523V	G	-	2	0	ROS1	117817424	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.188000	0.58351	2.706000	0.92434	0.561000	0.74099	GGC	ROS1	-	NULL		0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	C			117710731	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117710731	C	A	117710731	3	1	190	1	0	0	0	0	1	0	0	0	13561	739	26	4	5630	4	ROS1	6	117710731	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	29436827	117710731	53404336	41	36454										
FUCA2	2519	genome.wustl.edu	37	chr6	143825236	143825236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	attcatcctcaaggaagagcGgatgaaaccattcaaaaagg	9	8	3	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:143825236G>T	ENST00000002165.6	-	3	621	c.566C>A	c.(565-567)cCg>cAg	p.P189Q	RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|FUCA2_ENST00000438118.2_Intron|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	189					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AAGGAAGAGCGGATGAAACCA	0.448																																																	0													105	97	100					6																	143825236		2203	4300	6503	SO:0001583	missense	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.566C>A	6.37:g.143825236G>T	ENSP00000002165:p.Pro189Gln		E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.P189Q	ENST00000002165.6	37	c.566	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329764	0.81690	.	.	ENSG00000001036	ENST00000002165	T	0.60672	0.17	5.72	4.85	0.62838	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83898	0.0288	10	0.59425	D	0.04	-16.1524	16.2119	0.82168	0.0:0.0:0.866:0.134	.	189	Q9BTY2	FUCO2_HUMAN	Q	189	ENSP00000002165:P189Q	ENSP00000002165:P189Q	P	-	2	0	FUCA2	143866929	1.000000	0.71417	0.820000	0.32676	0.895000	0.52256	7.654000	0.83653	1.394000	0.46624	0.650000	0.86243	CCG	FUCA2	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub		0.448	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	G	NM_032020		143825236	-1	no_errors	ENST00000002165	ensembl	human	known	70_37	missense	SNP	0.999	T	T	143825236	G	T	143825236	3	4	190	1	0	0	0	0	1	0	0	0	6113	1116	39	2	857	2	FUCA2	6	143825236	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	26114505	143825236	27289831	42	36455										
LATS1	9113	genome.wustl.edu	37	chr6	149997435	149997435	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ggtgtttgtgccaagaaaggAggttgtcccaccaacatttc	11	9	0	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:149997435A>C	ENST00000543571.1	-	7	3391	c.2844T>G	c.(2842-2844)ccT>ccG	p.P948P	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Silent_p.P948P	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCAAGAAAGGAGGTTGTCCCA	0.338																																																	0													149	130	136					6																	149997435		2203	4300	6503	SO:0001819	synonymous_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2844T>G	6.37:g.149997435A>C				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P948	ENST00000543571.1	37	c.2844	CCDS34551.1	6																																																																																			LATS1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.338	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	A	NM_004690		149997435	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	silent	SNP	1.000	C	C	149997435	A	C	149997435	2	2	190	1	0	0	0	0	0	0	0	1	8666	291	11	5		5	LATS1	6	149997435	Silent	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	6172199	149997435	21117632	43	36456										
RAET1G	353091	genome.wustl.edu	37	chr6	150238164	150238164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tccaatgataggtaaagtcaCgcgagtcacgtgtccaccag	10	11	2	1	rs150542719	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:150238164C>A	ENST00000367360.2	-	5	956	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		ggtaaagtcacgcgagtcacg	0.498																																																	0													34	43	40					6																	150238164		1127	2169	3296	SO:0001583	missense	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.889G>T	6.37:g.150238164C>A	ENSP00000356329:p.Val297Leu			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.V297L	ENST00000367360.2	37	c.889	CCDS43514.1	6	.	.	.	.	.	.	.	.	.	.	C	8.130	0.782887	0.16189	.	.	ENSG00000203722	ENST00000367360	T	0.00958	5.5	0.158	0.158	0.14942	.	.	.	.	.	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	P	0.35033	0.481	B	0.33620	0.167	T	0.41413	-0.9510	8	0.87932	D	0	.	.	.	.	.	297	Q6H3X3	RET1G_HUMAN	L	297	ENSP00000356329:V297L	ENSP00000356329:V297L	V	-	1	0	RAET1G	150279857	0.003000	0.15002	0.006000	0.13384	0.006000	0.05464	0.193000	0.17116	0.202000	0.20498	0.205000	0.17691	GTG	RAET1G	-	NULL		0.498	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAET1G	HGNC	protein_coding	OTTHUMT00000042668.2	C			150238164	-1	no_errors	ENST00000367360	ensembl	human	known	70_37	missense	SNP	0.006	A	A	150238164	C	A	150238164	3	1	190	1	0	0	0	0	1	0	0	0	13030	536	19	2	119	2	RAET1G	6	150238164	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	240729	150238164	20876903	44	36457										
CARD11	84433	genome.wustl.edu	37	chr7	2979539	2979539	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cattcctcctccatcttattCaaccggtgctttagctgatc	5	14	2	1	rs531157179		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:2979539C>G	ENST00000396946.4	-	6	1111	c.708G>C	c.(706-708)ttG>ttC	p.L236F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	236					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCATCTTATTCAACCGGTGCT	0.493			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													145	132	137					7																	2979539		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.708G>C	7.37:g.2979539C>G	ENSP00000380150:p.Leu236Phe		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.L236F	ENST00000396946.4	37	c.708	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590390	0.66219	.	.	ENSG00000198286	ENST00000396946	T	0.37752	1.18	5.67	2.48	0.30137	.	0.078699	0.52532	D	0.000062	T	0.54208	0.1844	M	0.68317	2.08	0.43103	D	0.994793	D	0.89917	1.0	D	0.77557	0.99	T	0.54984	-0.8211	10	0.46703	T	0.11	-10.7888	11.9513	0.52956	0.0:0.7801:0.0:0.2199	.	236	Q9BXL7	CAR11_HUMAN	F	236	ENSP00000380150:L236F	ENSP00000380150:L236F	L	-	3	2	CARD11	2946065	1.000000	0.71417	0.913000	0.36048	0.995000	0.86356	1.836000	0.39191	0.777000	0.33496	0.579000	0.79373	TTG	CARD11	-	NULL		0.493	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2979539	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	0.999	G	G	2979539	C	G	2979539	3	3	190	1	0	0	0	0	1	0	0	0	2650	825	29	1	2836	1	CARD11	7	2979539	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		2979539	156159124	45	36458										
TRRAP	8295	genome.wustl.edu	37	chr7	98547391	98547391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agaacttccaagagaggcacCgcaaggagaacatggcagcc	12	11	0	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:98547391C>T	ENST00000359863.4	+	36	5250	c.5041C>T	c.(5041-5043)Cgc>Tgc	p.R1681C	TRRAP_ENST00000446306.3_Missense_Mutation_p.R1662C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R1663C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1681					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGAGGCACCGCAAGGAGAA	0.592																																																	0													74	67	69					7																	98547391		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5041C>T	7.37:g.98547391C>T	ENSP00000352925:p.Arg1681Cys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R1681C	ENST00000359863.4	37	c.5041	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058187	0.76074	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03330	3.97;3.97	5.84	5.84	0.93424	.	0.128652	0.53938	D	0.000056	T	0.06690	0.0171	N	0.11927	0.2	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.997	P;P;P	0.58820	0.846;0.563;0.706	T	0.50575	-0.8812	10	0.48119	T	0.1	.	15.5246	0.75894	0.1384:0.8616:0.0:0.0	.	1663;1402;1681	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	1681;1663;1661	ENSP00000352925:R1681C;ENSP00000347733:R1663C	ENSP00000347733:R1663C	R	+	1	0	TRRAP	98385327	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.913000	0.69957	2.779000	0.95612	0.655000	0.94253	CGC	TRRAP	-	superfamily_ARM-type_fold		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	C	NM_003496		98547391	1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	T	T	98547391	C	T	98547391	3	4	190	1	0	0	0	0	1	0	0	0	16632	652	23	2	5121	2	TRRAP	7	98547391	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	95567852	98547391	60591272	46	36459										
ZAN	7455	genome.wustl.edu	37	chr7	100365528	100365528	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ataaggctcagcagcaacctCgtcctcctctacacgaactt	6	15	2	0	rs377081331	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:100365528C>T	ENST00000348028.3	+	0	5100				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCAGCAACCTCGTCCTCCTCT	0.607													c|||	2	0.000399361	0	0.0014	5008	,	,		18239	0		0.001	False		,,,				2504	0																0								C	,	1,4189		0,1,2094	64	68	67		4935,4935	-6.4	0	7		67	4,8420		0,4,4208	no	coding-synonymous,coding-synonymous	ZAN	NM_003386.1,NM_173059.1	,	0,5,6302	TT,TC,CC		0.0475,0.0239,0.0396	,	1645/2813,1645/2722	100365528	5,12609	2095	4212	6307			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365528C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L1645	ENST00000348028.3	37	c.4935		7																																																																																			ZAN	-	pfam_VWF_type-D,smart_VWF_type-D		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100365528	1	no_errors	ENST00000546292	ensembl	human	known	70_37	silent	SNP	0.001	T	T	100365528	C	T	100365528	1	4	190	0	1	0	0	0	0	0	0	0	17544	871	31	1		1	ZAN	7	100365528	RNA	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	1818137	100365528	58773135	47	36460										
RELN	5649	genome.wustl.edu	37	chr7	103183222	103183222	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cgtgtcatcaacatgcgcaaGccatcttcattgaaaaagag	8	10	4	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:103183222G>T	ENST00000428762.1	-	43	6786	c.6627C>A	c.(6625-6627)ggC>ggA	p.G2209G	RELN_ENST00000424685.2_Silent_p.G2209G|RELN_ENST00000343529.5_Silent_p.G2209G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2209					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACATGCGCAAGCCATCTTCAT	0.373																																					NSCLC(146;835 1944 15585 22231 52158)												0													121	113	116					7																	103183222		2203	4300	6503	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6627C>A	7.37:g.103183222G>T			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.G2209	ENST00000428762.1	37	c.6627	CCDS47680.1	7																																																																																			RELN	-	superfamily_Neuraminidase		0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	G	NM_005045		103183222	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	silent	SNP	1.000	T	T	103183222	G	T	103183222	2	4	190	1	0	0	0	0	0	0	0	1	13250	958	34	4		4	RELN	7	103183222	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	2817694	103183222	55955441	48	36461										
SLC26A4	5172	genome.wustl.edu	37	chr7	107314773	107314773	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tgattgccagtgccctgactCtgctggttggaattatacag	11	9	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:107314773C>T	ENST00000265715.3	+	5	804	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	194					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGCCCTGACTCTGCTGGTTGG	0.348									Pendred syndrome																																								0													85	82	83					7																	107314773		2203	4300	6503	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.580C>T	7.37:g.107314773C>T			B7Z266|O43170	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L194	ENST00000265715.3	37	c.580	CCDS5746.1	7																																																																																			SLC26A4	-	tigrfam_SulP_transpt		0.348	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	C	NM_000441		107314773	1	no_errors	ENST00000265715	ensembl	human	known	70_37	silent	SNP	0.985	T	T	107314773	C	T	107314773	2	4	190	1	0	0	0	0	0	0	0	1	14549	912	32	1		1	SLC26A4	7	107314773	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	4131551	107314773	51823890	49	36462										
ASB15	142685	genome.wustl.edu	37	chr7	123254659	123254659	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gcaagactgcactttgtcctGaaaggtagtattcaaaccaa	8	9	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:123254659G>T	ENST00000451558.1	+	6	624	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Nonsense_Mutation_p.E35*|ASB15_ENST00000434204.1_Nonsense_Mutation_p.E35*|ASB15_ENST00000540573.1_Nonsense_Mutation_p.E35*|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000451215.1_Nonsense_Mutation_p.E35*			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	35					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ACTTTGTCCTGAAAGGTAGTA	0.363																																																	0													155	158	157					7																	123254659		2203	4300	6503	SO:0001587	stop_gained	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.103G>T	7.37:g.123254659G>T	ENSP00000397655:p.Glu35*		Q3ZCP3|Q3ZCP5|Q68D37	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.E35*	ENST00000451558.1	37	c.103	CCDS34742.1	7	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379905	0.82682	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000437535;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	.	.	.	6.04	5.15	0.70609	.	0.431099	0.22390	N	0.060698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	0.0241	13.5652	0.61813	0.0759:0.0:0.9241:0.0	.	.	.	.	X	35	.	ENSP00000275699:E35X	E	+	1	0	ASB15	123041895	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.750000	0.55157	1.537000	0.49254	0.563000	0.77884	GAA	ASB15	-	NULL		0.363	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	G			123254659	1	no_errors	ENST00000275699	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	123254659	G	T	123254659	4	4	190	1	0	0	0	0	0	1	0	0	1020	1291	45	3	105	3	ASB15	7	123254659	Nonsense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	15939886	123254659	35884004	50	36463										
MGAM	8972	genome.wustl.edu	37	chr7	141708379	141708379	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gatcctggaacaactggtacCacacatgctaggacaacggg	11	11	0	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:141708379C>A	ENST00000549489.2	+	3	296	c.201C>A	c.(199-201)acC>acA	p.T67T	MGAM_ENST00000475668.2_Silent_p.T67T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	67	Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAACTGGTACCACACATGCTA	0.483																																																	0													83	79	80					7																	141708379		1866	4103	5969	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.201C>A	7.37:g.141708379C>A			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.T67	ENST00000549489.2	37	c.201	CCDS47727.1	7																																																																																			MGAM	-	NULL		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	C			141708379	1	no_errors	ENST00000549489	ensembl	human	known	70_37	silent	SNP	0.000	A	A	141708379	C	A	141708379	2	1	190	1	0	0	0	0	0	0	0	1	9564	581	21	4		4	MGAM	7	141708379	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	18453720	141708379	17430284	51	36464										
PRKAG2	51422	genome.wustl.edu	37	chr7	151478481	151478481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ggggcctctggagaagaaccCtttggaggggctgcccgggc	18	11	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:151478481C>T	ENST00000287878.4	-	3	727	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	PRKAG2_ENST00000392801.2_Missense_Mutation_p.G31R|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	75					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GAGAAGAACCCTTTGGAGGGG	0.652																																																	0													14	15	14					7																	151478481		2202	4300	6502	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.223G>A	7.37:g.151478481C>T	ENSP00000287878:p.Gly75Arg		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.G75R	ENST00000287878.4	37	c.223	CCDS5928.1	7	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995693	0.54147	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.89552	-2.1;-2.53	4.74	3.85	0.44370	.	0.232073	0.35525	N	0.003148	D	0.88047	0.6332	N	0.24115	0.695	0.80722	D	1	D;P	0.76494	0.999;0.622	D;B	0.68192	0.956;0.352	D	0.87677	0.2545	10	0.66056	D	0.02	.	8.0265	0.30440	0.0:0.8201:0.0:0.1799	.	75;75	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	R	75;31	ENSP00000287878:G75R;ENSP00000376549:G31R	ENSP00000287878:G75R	G	-	1	0	PRKAG2	151109414	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.566000	0.45948	2.170000	0.68504	0.563000	0.77884	GGG	PRKAG2	-	NULL		0.652	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG2	HGNC	protein_coding	OTTHUMT00000348440.2	C	NM_016203		151478481	-1	no_errors	ENST00000287878	ensembl	human	known	70_37	missense	SNP	1.000	T	T	151478481	C	T	151478481	3	4	190	1	0	0	0	0	1	0	0	0	12528	681	24	4	1542	4	PRKAG2	7	151478481	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	9770102	151478481	7660182	52	36465										
ERLIN2	11160	genome.wustl.edu	37	chr8	37597898	37597898	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tgcagaggcggtgccctgctGacttcgaccagcggccctgg	15	14	0	2	rs112575270	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:37597898G>T	ENST00000276461.5	+	3	190	c.123G>T	c.(121-123)ctG>ctT	p.L41L	RP11-863K10.7_ENST00000330539.1_5'Flank|ERLIN2_ENST00000397228.2_Silent_p.L41L|ERLIN2_ENST00000523107.1_Silent_p.L41L|ERLIN2_ENST00000335171.6_Silent_p.L41L|ERLIN2_ENST00000523887.1_Silent_p.L41L|ERLIN2_ENST00000519638.1_Silent_p.L41L|ERLIN2_ENST00000518586.1_Silent_p.L41L	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	41					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGCCCTGCTGACTTCGACCA	0.527																																																	0													211	191	198					8																	37597898		2203	4300	6503	SO:0001819	synonymous_variant	11160			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.123G>T	8.37:g.37597898G>T			A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	pfam_Band_7,smart_Band_7	p.L41	ENST00000276461.5	37	c.123	CCDS6095.1	8																																																																																			ERLIN2	-	pfam_Band_7,smart_Band_7		0.527	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN2	HGNC	protein_coding	OTTHUMT00000376712.2	G	NM_007175		37597898	1	no_errors	ENST00000276461	ensembl	human	known	70_37	silent	SNP	1.000	T	T	37597898	G	T	37597898	2	4	190	1	0	0	0	0	0	0	0	1	5245	1277	45	3		3	ERLIN2	8	37597898	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09		37597898	108766124	53	36466										
ADAM18	8749	genome.wustl.edu	37	chr8	39496008	39496008	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aggaaacatcctaaatatgtGggagcaacatttcctggcac	9	9	0	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:39496008G>T	ENST00000265707.5	+	10	897	c.852G>T	c.(850-852)gtG>gtT	p.V284V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.V260V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> G (in a cutaneous metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:21618342}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTAAATATGTGGGAGCAACAT	0.289																																																	0													107	103	104					8																	39496008		2203	4295	6498	SO:0001819	synonymous_variant	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.852G>T	8.37:g.39496008G>T			B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.V284	ENST00000265707.5	37	c.852	CCDS6113.1	8																																																																																			ADAM18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.289	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	G	NM_014237		39496008	1	no_errors	ENST00000265707	ensembl	human	known	70_37	silent	SNP	0.318	T	T	39496008	G	T	39496008	2	4	190	1	0	0	0	0	0	0	0	1	239	1335	47	4		4	ADAM18	8	39496008	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	1898110	39496008	106868014	54	36467										
CYP7A1	1581	genome.wustl.edu	37	chr8	59410991	59410991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cagagcacagcccaggtatgGaattaatccattctctagag	9	10	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:59410991G>T	ENST00000301645.3	-	2	255	c.118C>A	c.(118-120)Cca>Aca	p.P40T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	40					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCCAGGTATGGAATTAATCCA	0.423									Neonatal Giant Cell Hepatitis																																								0													122	120	121					8																	59410991		2203	4300	6503	SO:0001583	missense	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.118C>A	8.37:g.59410991G>T	ENSP00000301645:p.Pro40Thr		P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.P40T	ENST00000301645.3	37	c.118	CCDS6171.1	8	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915675	0.92178	.	.	ENSG00000167910	ENST00000301645	T	0.20069	2.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62742	-0.6790	10	0.87932	D	0	-16.2677	20.2704	0.98474	0.0:0.0:1.0:0.0	.	40	P22680	CP7A1_HUMAN	T	40	ENSP00000301645:P40T	ENSP00000301645:P40T	P	-	1	0	CYP7A1	59573545	1.000000	0.71417	0.989000	0.46669	0.945000	0.59286	9.869000	0.99810	2.793000	0.96121	0.591000	0.81541	CCA	CYP7A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.423	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7A1	HGNC	protein_coding	OTTHUMT00000378190.1	G	NM_000780		59410991	-1	no_errors	ENST00000301645	ensembl	human	known	70_37	missense	SNP	1.000	T	T	59410991	G	T	59410991	3	4	190	1	0	0	0	0	1	0	0	0	4201	1174	41	3	1416	3	CYP7A1	8	59410991	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	19914983	59410991	86953031	55	36468										
XKR9	389668	genome.wustl.edu	37	chr8	71646350	71646350	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	attgttgttggattcattctTatctttacattttttaatat	4	4	3	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:71646350T>A	ENST00000408926.3	+	5	1347	c.813T>A	c.(811-813)ctT>ctA	p.L271L	XKR9_ENST00000520030.1_Silent_p.L271L|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	271						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTCATTCTTATCTTTACAT	0.313																																																	0													88	87	87					8																	71646350		2203	4299	6502	SO:0001819	synonymous_variant	389668			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.813T>A	8.37:g.71646350T>A			B2RNS9|B9EH74	Silent	SNP	pfam_Transport_prot_XK	p.L271	ENST00000408926.3	37	c.813	CCDS34905.1	8																																																																																			XKR9	-	pfam_Transport_prot_XK		0.313	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR9	HGNC	protein_coding	OTTHUMT00000378752.1	T	NM_001011720		71646350	1	no_errors	ENST00000408926	ensembl	human	known	70_37	silent	SNP	0.044	A	A	71646350	T	A	71646350	2	1	190	1	0	0	0	0	0	0	0	1	17469	1741	61	5		5	XKR9	8	71646350	Silent	SNP	T	TCGA-R2-A69V-01A-11D-A32I-09	12235359	71646350	74717672	56	36469										
PMP2	5375	genome.wustl.edu	37	chr8	82357088	82357088	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tcagctgtggtttcttcaaaTtcctggcctagcttgaagga	10	9	3	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:82357088T>A	ENST00000256103.2	-	2	346	c.210A>T	c.(208-210)gaA>gaT	p.E70D	PMP2_ENST00000519260.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	70					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TTTCTTCAAATTCCTGGCCTA	0.393																																																	0													131	129	130					8																	82357088		2203	4300	6503	SO:0001583	missense	5375			X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"Fatty acid binding protein family"	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.210A>T	8.37:g.82357088T>A	ENSP00000256103:p.Glu70Asp		Q6FHL4	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.E70D	ENST00000256103.2	37	c.210	CCDS6229.1	8	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383356	0.82792	.	.	ENSG00000147588	ENST00000256103	T	0.58060	0.36	5.68	0.801	0.18679	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.198791	0.51477	D	0.000084	T	0.70701	0.3254	H	0.96048	3.76	0.80722	D	1	P	0.36378	0.55	P	0.47299	0.543	T	0.73119	-0.4083	10	0.72032	D	0.01	.	9.5163	0.39106	0.0:0.4821:0.0:0.5179	.	70	P02689	MYP2_HUMAN	D	70	ENSP00000256103:E70D	ENSP00000256103:E70D	E	-	3	2	PMP2	82519643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.931000	0.28871	0.119000	0.18210	0.477000	0.44152	GAA	PMP2	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd		0.393	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP2	HGNC	protein_coding	OTTHUMT00000379365.1	T	NM_002677		82357088	-1	no_errors	ENST00000256103	ensembl	human	known	70_37	missense	SNP	1.000	A	A	82357088	T	A	82357088	3	1	190	1	0	0	0	0	1	0	0	0	12162	1490	52	5	200	5	PMP2	8	82357088	Missense_Mutation	SNP	T	TCGA-R2-A69V-01A-11D-A32I-09	10710738	82357088	64006934	57	36470										
IFNA10	3446	genome.wustl.edu	37	chr9	21206637	21206637	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gctgtatttcctctctattaGataaagagtgattctttgga	8	6	2	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:21206637G>C	ENST00000357374.2	-	1	505	c.460C>G	c.(460-462)Cta>Gta	p.L154V		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	154					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCTCTATTAGATAAAGAGTG	0.448																																																	0													250	254	253					9																	21206637		2203	4300	6503	SO:0001583	missense	3446				CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"Interferons"	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.460C>G	9.37:g.21206637G>C	ENSP00000369566:p.Leu154Val		Q5VV13	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L154V	ENST00000357374.2	37	c.460	CCDS6499.1	9	.	.	.	.	.	.	.	.	.	.	-	13.08	2.131215	0.37630	.	.	ENSG00000186803	ENST00000357374	T	0.37411	1.2	3.75	2.82	0.32997	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000004	T	0.67562	0.2906	H	0.96518	3.835	0.09310	N	1	D	0.76494	0.999	D	0.97110	1.0	T	0.60816	-0.7188	10	0.87932	D	0	.	9.306	0.37876	0.1154:0.0:0.8846:0.0	.	154	P01566	IFN10_HUMAN	V	154	ENSP00000369566:L154V	ENSP00000369566:L154V	L	-	1	2	IFNA10	21196637	0.501000	0.26099	0.019000	0.16419	0.015000	0.08874	1.680000	0.37607	1.806000	0.52798	0.499000	0.49734	CTA	IFNA10	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta		0.448	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA10	HGNC	protein_coding	OTTHUMT00000051887.1	G	NM_002171		21206637	-1	no_errors	ENST00000357374	ensembl	human	known	70_37	missense	SNP	0.043	C	C	21206637	G	C	21206637	3	2	190	1	0	0	0	0	1	0	0	0	7552	933	33	1	113	1	IFNA10	9	21206637	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09		21206637	120006794	58	36471										
SIT1	27240	genome.wustl.edu	37	chr9	35649944	35649944	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gaggcatagagctccggctcGgggcccgaggcctgggactt	17	12	0	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:35649944G>C	ENST00000259608.3	-	5	578	c.492C>G	c.(490-492)ccC>ccG	p.P164P	RP11-331F9.4_ENST00000428948.1_RNA|SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	164					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTCCGGCTCGGGGCCCGAGG	0.677																																																	0													10	12	11					9																	35649944		2195	4281	6476	SO:0001819	synonymous_variant	27240				CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"SHP2 interacting transmembrane adaptor"	604964	"suppression inducing transmembrane adaptor 1"			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.492C>G	9.37:g.35649944G>C			B2RBP9	Silent	SNP	NULL	p.P164	ENST00000259608.3	37	c.492	CCDS6582.1	9																																																																																			SIT1	-	NULL		0.677	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIT1	HGNC	protein_coding	OTTHUMT00000052322.1	G	NM_014450		35649944	-1	no_errors	ENST00000259608	ensembl	human	known	70_37	silent	SNP	0.000	C	C	35649944	G	C	35649944	2	2	190	1	0	0	0	0	0	0	0	1	14374	1103	39	2		2	SIT1	9	35649944	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	14443307	35649944	105563487	59	36472										
IPPK	64768	genome.wustl.edu	37	chr9	95418824	95418824	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ctgcaggtgttgaaatatctCttccgaggtctgtaagagac	11	8	2	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:95418824C>T	ENST00000287996.3	-	3	415	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	47					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TGAAATATCTCTTCCGAGGTC	0.478																																																	0													112	108	109					9																	95418824		2203	4300	6503	SO:0001583	missense	64768			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.139G>A	9.37:g.95418824C>T	ENSP00000287996:p.Glu47Lys		Q5T9F7|Q9H7V8	Missense_Mutation	SNP	pfam_Ins_P5_2-kin	p.E47K	ENST00000287996.3	37	c.139	CCDS6699.1	9	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155192	0.57259	.	.	ENSG00000127080	ENST00000287996	T	0.32515	1.45	4.98	4.98	0.66077	.	0.057273	0.64402	D	0.000002	T	0.35068	0.0919	L	0.41415	1.275	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	T	0.02371	-1.1169	10	0.19147	T	0.46	-26.6434	17.4039	0.87468	0.0:1.0:0.0:0.0	.	47	Q9H8X2	IPPK_HUMAN	K	47	ENSP00000287996:E47K	ENSP00000287996:E47K	E	-	1	0	IPPK	94458645	1.000000	0.71417	0.999000	0.59377	0.258000	0.26162	3.008000	0.49544	2.481000	0.83766	0.305000	0.20034	GAG	IPPK	-	pfam_Ins_P5_2-kin		0.478	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	C	NM_022755		95418824	-1	no_errors	ENST00000287996	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95418824	C	T	95418824	3	4	190	1	0	0	0	0	1	0	0	0	7821	922	32	1	1380	1	IPPK	9	95418824	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	59768880	95418824	45794607	60	36473										
CTSL2	1515	genome.wustl.edu	37	chr9	99798947	99798947	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ccagattctgctcgctcagtGagacaagtttcccagttttc	8	12	2	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:99798947G>A	ENST00000259470.5	-	5	728	c.479C>T	c.(478-480)tCa>tTa	p.S160L	CTSV_ENST00000479932.1_5'Flank|CTSV_ENST00000538255.1_Missense_Mutation_p.S160L	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	160					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										CTCGCTCAGTGAGACAAGTTT	0.493																																																	0													117	109	112					9																	99798947		2203	4300	6503	SO:0001583	missense	1515			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"Cathepsins"	2538	protein-coding gene	gene with protein product		603308	"cathepsin L2"	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.479C>T	9.37:g.99798947G>A	ENSP00000259470:p.Ser160Leu		O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.S160L	ENST00000259470.5	37	c.479	CCDS6723.1	9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683314	0.88542	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.26067	1.76;1.76	3.8	3.8	0.43715	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72338	0.963;0.977	T	0.59595	-0.7425	9	.	.	.	.	13.9668	0.64213	0.0:0.0:1.0:0.0	.	160;160	B2R717;O60911	.;CATL2_HUMAN	L	160	ENSP00000259470:S160L;ENSP00000445052:S160L	.	S	-	2	0	CTSL2	98838768	1.000000	0.71417	0.732000	0.30844	0.927000	0.56198	7.163000	0.77524	2.444000	0.82710	0.555000	0.69702	TCA	CTSL2	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.493	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL2	HGNC	protein_coding	OTTHUMT00000053301.2	G	NM_001333		99798947	-1	no_errors	ENST00000259470	ensembl	human	known	70_37	missense	SNP	1.000	A	A	99798947	G	A	99798947	3	1	190	1	0	0	0	0	1	0	0	0	4044	1294	45	1	541	1	CTSL2	9	99798947	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	4380123	99798947	41414484	61	36474										
GSN	2934	genome.wustl.edu	37	chr9	124079435	124079435	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cccttcgcccagggggccctGaagtcagaggactgcttcat	12	14	2	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:124079435G>C	ENST00000373818.4	+	7	1047	c.978G>C	c.(976-978)ctG>ctC	p.L326L	GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373823.3_Silent_p.L275L|GSN_ENST00000436847.1_Silent_p.L286L|GSN_ENST00000341272.2_Silent_p.L275L|GSN_ENST00000373807.1_Silent_p.L57L|GSN_ENST00000545652.1_Silent_p.L283L|GSN_ENST00000449733.1_Silent_p.L275L|GSN_ENST00000373808.2_Silent_p.L275L|GSN_ENST00000412819.1_Silent_p.L275L|GSN_ENST00000394353.2_Silent_p.L286L	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	326					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGGGGCCCTGAAGTCAGAGG	0.577																																																	0													140	135	137					9																	124079435		2203	4300	6503	SO:0001819	synonymous_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.978G>C	9.37:g.124079435G>C			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.L326	ENST00000373818.4	37	c.978	CCDS6828.1	9																																																																																			GSN	-	pfam_Gelsolin_dom,smart_Gelsolin		0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	G	NM_000177		124079435	1	no_errors	ENST00000373818	ensembl	human	known	70_37	silent	SNP	1.000	C	C	124079435	G	C	124079435	2	2	190	1	0	0	0	0	0	0	0	1	6845	1277	45	1		1	GSN	9	124079435	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	24280488	124079435	17133996	62	36475										
SLC2A6	11182	genome.wustl.edu	37	chr9	136343502	136343502	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aaattgccgagcactgcggcGaaggtggccaggaacaccct	13	12	0	0	rs372451832	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:136343502G>A	ENST00000371899.4	-	2	206	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SLC2A6_ENST00000371897.4_Silent_p.F43F|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	43					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCACTGCGGCGAAGGTGGCCA	0.582													G|||	2	0.000399361	0	0	5008	,	,		18723	0.001		0	False		,,,				2504	0.001																0													145	141	143					9																	136343502		2203	4300	6503	SO:0001819	synonymous_variant	11182			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.129C>T	9.37:g.136343502G>A			A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.F43	ENST00000371899.4	37	c.129	CCDS6975.1	9																																																																																			SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.582	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	G	NM_017585		136343502	-1	no_errors	ENST00000371899	ensembl	human	known	70_37	silent	SNP	0.987	A	A	136343502	G	A	136343502	2	1	190	1	0	0	0	0	0	0	0	1	14579	1049	37	1		1	SLC2A6	9	136343502	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	12264067	136343502	4869929	63	36476										
CACNA1B	774	genome.wustl.edu	37	chr9	140807695	140807695	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agggctgtgcgtgtgctgagGcccctgaagctggtgtctgg	18	9	1	2	rs201900845		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:140807695G>T	ENST00000371372.1	+	4	739	c.594G>T	c.(592-594)agG>agT	p.R198S	CACNA1B_ENST00000371363.1_Missense_Mutation_p.R198S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R198S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R198S|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R198S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	198					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGTGCTGAGGCCCCTGAAGC	0.567																																																	0													63	66	65					9																	140807695		2088	4217	6305	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.594G>T	9.37:g.140807695G>T	ENSP00000360423:p.Arg198Ser		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R198S	ENST00000371372.1	37	c.594	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283576	0.40394	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99594	-6.25;-6.25;-6.25;-6.25;-6.25	4.49	2.48	0.30137	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.99949	5.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96952	0.9695	10	0.87932	D	0	.	8.7641	0.34692	0.2658:0.0:0.7342:0.0	.	198	B1AQK6	.	S	198	ENSP00000360423:R198S;ENSP00000277551:R198S;ENSP00000360414:R198S;ENSP00000360408:R198S;ENSP00000360406:R198S	ENSP00000277551:R198S	R	+	3	2	CACNA1B	139927516	1.000000	0.71417	0.993000	0.49108	0.821000	0.46438	0.923000	0.28757	1.105000	0.41606	-0.258000	0.10820	AGG	CACNA1B	-	pfam_Ion_trans_dom		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140807695	1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140807695	G	T	140807695	3	4	190	1	0	0	0	0	1	0	0	0	2544	1194	42	4	608	4	CACNA1B	9	140807695	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	4464193	140807695	405736	64	36477										
MTPAP	55149	genome.wustl.edu	37	chr10	30615518	30615518	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tctgagttgcaattctttctGaaggaacatttttcacttga	7	7	4	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr10:30615518G>A	ENST00000263063.4	-	5	870	c.827C>T	c.(826-828)tCa>tTa	p.S276L	MTPAP_ENST00000358107.4_Missense_Mutation_p.S406L|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	276					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AATTCTTTCTGAAGGAACATT	0.368																																																	0													91	100	97					10																	30615518		2203	4300	6503	SO:0001583	missense	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.827C>T	10.37:g.30615518G>A	ENSP00000263063:p.Ser276Leu		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	pfam_PAP_assoc	p.S406L	ENST00000263063.4	37	c.1217	CCDS7165.1	10	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949776	0.92660	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581	T;T;T	0.41065	3.03;3.03;1.01	5.18	5.18	0.71444	.	0.072936	0.56097	D	0.000023	T	0.63698	0.2533	M	0.69185	2.1	0.80722	D	1	D;P	0.71674	0.998;0.902	D;P	0.70716	0.97;0.714	T	0.62891	-0.6758	10	0.45353	T	0.12	-14.2753	19.0645	0.93104	0.0:0.0:1.0:0.0	.	406;276	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	L	406;276;211	ENSP00000350820:S406L;ENSP00000263063:S276L;ENSP00000404392:S211L	ENSP00000263063:S276L	S	-	2	0	MTPAP	30655524	1.000000	0.71417	0.986000	0.45419	0.893000	0.52053	9.597000	0.98273	2.577000	0.86979	0.467000	0.42956	TCA	MTPAP	-	NULL		0.368	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTPAP	HGNC	protein_coding	OTTHUMT00000047426.2	G	NM_018109		30615518	-1	no_errors	ENST00000358107	ensembl	human	known	70_37	missense	SNP	1.000	A	A	30615518	G	A	30615518	3	1	190	1	0	0	0	0	1	0	0	0	9979	1294	45	1	941	1	MTPAP	10	30615518	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09		30615518	104919229	65	36478										
DLG5	9231	genome.wustl.edu	37	chr10	79569484	79569484	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cttcttgttggcatctcccgCaatcctttcaggaaaaaaac	6	12	3	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr10:79569484C>G	ENST00000372391.2	-	24	4473	c.4468G>C	c.(4468-4470)Gcg>Ccg	p.A1490P	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.A1150P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1490					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCATCTCCCGCAATCCTTTCA	0.512																																																	0													124	124	124					10																	79569484		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4468G>C	10.37:g.79569484C>G	ENSP00000361467:p.Ala1490Pro		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.A1490P	ENST00000372391.2	37	c.4468	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	3.664	-0.068920	0.07228	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.05513	3.72;3.43;3.68	5.85	-1.69	0.08186	PDZ/DHR/GLGF (1);	0.457590	0.16256	N	0.222474	T	0.01661	0.0053	N	0.01576	-0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.44205	-0.9343	10	0.24483	T	0.36	.	2.5493	0.04744	0.2609:0.1661:0.4268:0.1463	.	1490;1150	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	P	1490;451;1150	ENSP00000361467:A1490P;ENSP00000394797:A451P;ENSP00000361464:A1150P	ENSP00000361464:A1150P	A	-	1	0	DLG5	79239490	0.147000	0.22687	0.006000	0.13384	0.028000	0.11728	1.214000	0.32419	0.037000	0.15575	0.655000	0.94253	GCG	DLG5	-	superfamily_PDZ		0.512	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	C			79569484	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	missense	SNP	0.022	G	G	79569484	C	G	79569484	3	3	190	1	0	0	0	0	1	0	0	0	4568	710	25	4	1327	4	DLG5	10	79569484	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	48953966	79569484	55965263	66	36479										
DOCK1	1793	genome.wustl.edu	37	chr10	129231692	129231692	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ttccagaccaggctccgacgGgtgagtcaagctcacagcag	12	13	2	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr10:129231692G>C	ENST00000280333.6	+	48	5106	c.4997G>C	c.(4996-4998)gGg>gCg	p.G1666A		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1666					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGCTCCGACGGGTGAGTCAAG	0.597																																																	0													51	55	54					10																	129231692		1980	4158	6138	SO:0001630	splice_region_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4997+1G>C	10.37:g.129231692G>C			A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.G1666A	ENST00000280333.6	37	c.4997		10	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114680	0.37339	.	.	ENSG00000150760	ENST00000280333	T	0.03663	3.85	5.01	4.08	0.47627	.	0.061334	0.64402	N	0.000004	T	0.06050	0.0157	M	0.65498	2.005	0.80722	D	1	P;B;P	0.47762	0.9;0.414;0.9	B;B;B	0.39876	0.312;0.105;0.312	T	0.49194	-0.8965	10	0.21014	T	0.42	.	15.3148	0.74065	0.0:0.1403:0.8597:0.0	.	1666;1732;1666	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	A	1666	ENSP00000280333:G1666A	ENSP00000280333:G1666A	G	+	2	0	DOCK1	129121682	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.011000	0.76359	1.300000	0.44818	0.655000	0.94253	GGG	DOCK1	-	NULL		0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	G	NM_001380	Missense_Mutation	129231692	1	no_errors	ENST00000280333	ensembl	human	known	70_37	missense	SNP	1.000	C	C	129231692	G	C	129231692	5	2	190	1	0	0	0	0	0	0	1	0	4694	1246	43	4	5187	4	DOCK1	10	129231692	Splice_Site	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	49662208	129231692	6303055	67	36480										
CCKBR	887	genome.wustl.edu	37	chr11	6291978	6291978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tacttagggcttcgctttgaCggcgacagtgacagcgacag	13	10	0	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:6291978C>T	ENST00000334619.2	+	4	949	c.756C>T	c.(754-756)gaC>gaT	p.D252D	CCKBR_ENST00000532715.1_Silent_p.D168D|CCKBR_ENST00000525462.1_Silent_p.D252D	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	252					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.D252D(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCGCTTTGACGGCGACAGTG	0.602																																																	2	Substitution - coding silent(2)	large_intestine(2)											111	86	94					11																	6291978		2201	4296	6497	SO:0001819	synonymous_variant	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.756C>T	11.37:g.6291978C>T			A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.D252	ENST00000334619.2	37	c.756	CCDS7761.1	11																																																																																			CCKBR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt		0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	C	NM_176875		6291978	1	no_errors	ENST00000525462	ensembl	human	known	70_37	silent	SNP	0.022	T	T	6291978	C	T	6291978	2	4	190	1	0	0	0	0	0	0	0	1	2886	535	19	2		2	CCKBR	11	6291978	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		6291978	128714538	68	36481										
IGSF22	283284	genome.wustl.edu	37	chr11	18733675	18733675	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tctgtctccagtgggtcactCacaccttctgaattgactgc	8	13	5	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:18733675C>G	ENST00000513874.1	-	15	2491	c.2352G>C	c.(2350-2352)gtG>gtC	p.V784V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	783	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GTGGGTCACTCACACCTTCTG	0.537																																																	0													165	133	143					11																	18733675		692	1591	2283	SO:0001819	synonymous_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2352G>C	11.37:g.18733675C>G			A6NNA0|D6RGV7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V784	ENST00000513874.1	37	c.2352	CCDS41625.2	11																																																																																			IGSF22	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.537	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	C	NM_173588		18733675	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	silent	SNP	0.099	G	G	18733675	C	G	18733675	2	3	190	1	0	0	0	0	0	0	0	1	7620	813	29	1		1	IGSF22	11	18733675	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	12441697	18733675	116272841	69	36482										
SYT13	57586	genome.wustl.edu	37	chr11	45275950	45275950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	catgacacagacatcctccaCcacacctgttaagaaagtcg	6	14	0	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:45275950C>G	ENST00000020926.3	-	3	526	c.415G>C	c.(415-417)Gtg>Ctg	p.V139L	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	139					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						ACATCCTCCACCACACCTGTT	0.522																																																	0													127	105	112					11																	45275950		2203	4299	6502	SO:0001583	missense	57586			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.415G>C	11.37:g.45275950C>G	ENSP00000020926:p.Val139Leu		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V139L	ENST00000020926.3	37	c.415	CCDS31470.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.06|17.06	3.292858|3.292858	0.60086|0.60086	.|.	.|.	ENSG00000019505|ENSG00000019505	ENST00000020926|ENST00000528101	T|.	0.07800|.	3.16|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.077676|.	0.51477|.	D|.	0.000089|.	T|T	0.51550|0.51550	0.1681|0.1681	N|N	0.24115|0.24115	0.695|0.695	0.39085|0.39085	D|D	0.960985|0.960985	P|.	0.49253|.	0.921|.	B|.	0.35182|.	0.197|.	T|T	0.49579|0.49579	-0.8925|-0.8925	10|5	0.25751|.	T|.	0.34|.	.|.	13.9283|13.9283	0.63978|0.63978	0.0:0.9268:0.0:0.0732|0.0:0.9268:0.0:0.0732	.|.	139|.	Q7L8C5|.	SYT13_HUMAN|.	L|C	139|98	ENSP00000020926:V139L|.	ENSP00000020926:V139L|.	V|W	-|-	1|3	0|0	SYT13|SYT13	45232526|45232526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.494000|3.494000	0.53273|0.53273	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GTG|TGG	SYT13	-	NULL		0.522	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT13	HGNC	protein_coding	OTTHUMT00000390110.1	C	NM_020826		45275950	-1	no_errors	ENST00000020926	ensembl	human	known	70_37	missense	SNP	1.000	G	G	45275950	C	G	45275950	3	3	190	1	0	0	0	0	1	0	0	0	15499	507	18	4	881	4	SYT13	11	45275950	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	26542275	45275950	89730566	70	36483										
OR5M8	219484	genome.wustl.edu	37	chr11	56258761	56258761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ccatgtaaatggccagaaacAgcgtgaagaggagaatttgt	12	6	0	4			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:56258761A>G	ENST00000327216.2	-	1	110	c.86T>C	c.(85-87)cTg>cCg	p.L29P		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGCCAGAAACAGCGTGAAGAG	0.512																																																	0													99	102	101					11																	56258761		2201	4296	6497	SO:0001583	missense	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.86T>C	11.37:g.56258761A>G	ENSP00000323354:p.Leu29Pro		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L29P	ENST00000327216.2	37	c.86	CCDS31533.1	11	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706954	0.68615	.	.	ENSG00000181371	ENST00000327216	T	0.17691	2.26	4.13	4.13	0.48395	.	0.000000	0.27151	U	0.020682	T	0.31949	0.0813	M	0.69463	2.115	0.27160	N	0.96119	D	0.55605	0.972	P	0.55871	0.786	T	0.09975	-1.0650	10	0.87932	D	0	-5.0028	11.5418	0.50672	1.0:0.0:0.0:0.0	.	29	Q8NGP6	OR5M8_HUMAN	P	29	ENSP00000323354:L29P	ENSP00000323354:L29P	L	-	2	0	OR5M8	56015337	0.134000	0.22483	0.064000	0.19789	0.051000	0.14879	4.058000	0.57463	1.658000	0.50742	0.440000	0.28878	CTG	OR5M8	-	prints_GPCR_Rhodpsn		0.512	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M8	HGNC	protein_coding	OTTHUMT00000391641.1	A	NM_001005282		56258761	-1	no_errors	ENST00000327216	ensembl	human	known	70_37	missense	SNP	0.062	G	G	56258761	A	G	56258761	3	3	190	1	0	0	0	0	1	0	0	0	11200	188	7	5	853	5	OR5M8	11	56258761	Missense_Mutation	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	10982811	56258761	78747755	71	36484										
SLC43A3	29015	genome.wustl.edu	37	chr11	57185336	57185336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gaagatgaaggaggccctgaGgctgatgcctttttcataaa	12	7	1	4			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:57185336G>A	ENST00000395123.2	-	8	860	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F	SLC43A3_ENST00000352187.1_Missense_Mutation_p.L186F|SLC43A3_ENST00000533524.1_Missense_Mutation_p.L199F|SLC43A3_ENST00000395124.1_Missense_Mutation_p.L186F|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Missense_Mutation_p.L186F	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	186					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAGGCCCTGAGGCTGATGCCT	0.522																																																	0													83	74	77					11																	57185336		2201	4296	6497	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.556C>T	11.37:g.57185336G>A	ENSP00000378555:p.Leu186Phe		B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L186F	ENST00000395123.2	37	c.556	CCDS7956.1	11	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750906	0.49257	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	T;T;T;T;T;T	0.58358	0.49;0.49;0.49;0.49;0.49;0.34	5.48	3.59	0.41128	Major facilitator superfamily domain, general substrate transporter (1);	0.068296	0.64402	D	0.000010	T	0.37461	0.1004	N	0.20766	0.605	0.50632	D	0.999889	P;B;B;B	0.45986	0.87;0.044;0.09;0.044	P;B;B;B	0.49252	0.604;0.129;0.17;0.074	T	0.35773	-0.9775	10	0.05525	T	0.97	-30.3289	8.2663	0.31815	0.0796:0.0:0.7639:0.1565	.	186;199;186;186	B4DV87;E7EQD2;Q8NBI5;A8K2X6	.;.;S43A3_HUMAN;.	F	186;186;186;186;199;186	ENSP00000378555:L186F;ENSP00000378556:L186F;ENSP00000337561:L186F;ENSP00000436254:L186F;ENSP00000434515:L199F;ENSP00000435893:L186F	ENSP00000337561:L186F	L	-	1	0	SLC43A3	56941912	1.000000	0.71417	0.536000	0.28039	0.927000	0.56198	2.363000	0.44178	1.306000	0.44926	0.462000	0.41574	CTC	SLC43A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.522	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC43A3	HGNC	protein_coding	OTTHUMT00000393057.1	G	NM_017611		57185336	-1	no_errors	ENST00000352187	ensembl	human	known	70_37	missense	SNP	0.916	A	A	57185336	G	A	57185336	3	1	190	1	0	0	0	0	1	0	0	0	14664	1000	35	4	947	4	SLC43A3	11	57185336	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	926575	57185336	77821180	72	36485										
TMEM138	51524	genome.wustl.edu	37	chr11	61136174	61136174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	caaggagttcatgcaagttcGaaggtgacctcttgtcacac	10	10	3	1	rs569659022		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:61136174G>T	ENST00000278826.6	+	5	1041	c.482G>T	c.(481-483)cGa>cTa	p.R161L	TMEM138_ENST00000381787.2_Missense_Mutation_p.R103L	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	161					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATGCAAGTTCGAAGGTGACCT	0.493																																																	0													108	84	92					11																	61136174		2203	4299	6502	SO:0001583	missense	51524			AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.482G>T	11.37:g.61136174G>T	ENSP00000278826:p.Arg161Leu		A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	NULL	p.R161L	ENST00000278826.6	37	c.482	CCDS8005.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145205	0.77888	.	.	ENSG00000149483	ENST00000278826;ENST00000381787	D;D	0.90563	-2.68;-2.69	5.95	4.06	0.47325	.	0.064498	0.64402	D	0.000006	D	0.88621	0.6486	L	0.53249	1.67	0.54753	D	0.999984	B	0.28439	0.212	B	0.33750	0.169	D	0.85943	0.1459	10	0.72032	D	0.01	.	11.6231	0.51130	0.0674:0.1249:0.8076:0.0	.	161	Q9NPI0	TM138_HUMAN	L	161;103	ENSP00000278826:R161L;ENSP00000371206:R103L	ENSP00000278826:R161L	R	+	2	0	TMEM138	60892750	0.832000	0.29368	1.000000	0.80357	0.972000	0.66771	2.669000	0.46825	0.827000	0.34685	0.655000	0.94253	CGA	TMEM138	-	NULL		0.493	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM138	HGNC	protein_coding	OTTHUMT00000398399.2	G	NM_016464		61136174	1	no_errors	ENST00000278826	ensembl	human	known	70_37	missense	SNP	0.996	T	T	61136174	G	T	61136174	3	4	190	1	0	0	0	0	1	0	0	0	16083	1058	37	3	496	3	TMEM138	11	61136174	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	3950838	61136174	73870342	73	36486										
EML3	256364	genome.wustl.edu	37	chr11	62376235	62376235	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tccttatccactccagctgtCtgtcccgaggctacccgaac	7	17	1	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:62376235C>G	ENST00000394773.2	-	8	1279	c.972G>C	c.(970-972)caG>caC	p.Q324H	RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000531557.1_Missense_Mutation_p.Q107H|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.Q325H|EML3_ENST00000529309.1_Missense_Mutation_p.Q324H|EML3_ENST00000494176.2_Missense_Mutation_p.Q296H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	324						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCAGCTGTCTGTCCCGAGG	0.522																																																	0													155	139	144					11																	62376235		2202	4299	6501	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.972G>C	11.37:g.62376235C>G	ENSP00000378254:p.Gln324His		Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q324H	ENST00000394773.2	37	c.972	CCDS8023.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.026728|3.026728	0.54683|0.54683	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T	.|0.42131	.|1.14;1.1;0.98;0.98;0.98	5.55|5.55	5.55|5.55	0.83447|0.83447	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75443|0.75443	0.3850|0.3850	H|H	0.97962|0.97962	4.115|4.115	0.53005|0.53005	D|D	0.999963|0.999963	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.998;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;0.989;0.996;0.991	T|T	0.82737|0.82737	-0.0309|-0.0309	5|10	.|0.87932	.|D	.|0	-20.2581|-20.2581	10.4361|10.4361	0.44437|0.44437	0.0:0.9122:0.0:0.0878|0.0:0.9122:0.0:0.0878	.|.	.|324;324;107;325;296	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	H|H	319|324;325;107;296;324	.|ENSP00000378254:Q324H;ENSP00000278845:Q325H;ENSP00000433417:Q107H;ENSP00000435064:Q296H;ENSP00000434513:Q324H	.|ENSP00000278845:Q325H	D|Q	-|-	1|3	0|2	EML3|EML3	62132811|62132811	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.475000|0.475000	0.33008|0.33008	2.988000|2.988000	0.49386|0.49386	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GAC|CAG	EML3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.522	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	C	NM_153265		62376235	-1	no_errors	ENST00000529309	ensembl	human	known	70_37	missense	SNP	1.000	G	G	62376235	C	G	62376235	3	3	190	1	0	0	0	0	1	0	0	0	5110	912	32	1	1778	1	EML3	11	62376235	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	1240061	62376235	72630281	74	36487										
NXF1	10482	genome.wustl.edu	37	chr11	62567871	62567871	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gatgtaggtggactggtctcGgaaggtgtcacacagggagt	17	6	2	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:62567871G>T	ENST00000532297.1	-	11	1623	c.994C>A	c.(994-996)Cga>Aga	p.R332R	NXF1_ENST00000531709.2_Silent_p.R332R|NXF1_ENST00000439713.2_Silent_p.R332R|NXF1_ENST00000294172.2_Silent_p.R332R|NXF1_ENST00000531131.1_Silent_p.R195R			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	332					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTGGTCTCGGAAGGTGTCA	0.567																																																	0													161	112	129					11																	62567871		2201	4299	6500	SO:0001819	synonymous_variant	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.994C>A	11.37:g.62567871G>T			B4E269|Q99799|Q9UQL2	Silent	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.R332	ENST00000532297.1	37	c.994	CCDS8037.1	11																																																																																			NXF1	-	NULL		0.567	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	G	NM_006362		62567871	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	silent	SNP	0.998	T	T	62567871	G	T	62567871	2	4	190	1	0	0	0	0	0	0	0	1	10806	1124	39	2		2	NXF1	11	62567871	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	191636	62567871	72438645	75	36488										
SYTL2	54843	genome.wustl.edu	37	chr11	85407429	85407429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tacttgtatctggaaggatgGtactacaaaaagaggcatga	11	5	1	2	rs369721219		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:85407429G>T	ENST00000528231.1	-	17	2733	c.2456C>A	c.(2455-2457)aCc>aAc	p.T819N	SYTL2_ENST00000524452.1_Missense_Mutation_p.T795N|SYTL2_ENST00000316356.4_Missense_Mutation_p.T820N|SYTL2_ENST00000389960.4_Missense_Mutation_p.T795N|SYTL2_ENST00000389958.3_Missense_Mutation_p.T250N|SYTL2_ENST00000529581.1_Missense_Mutation_p.T261N|SYTL2_ENST00000525423.1_Missense_Mutation_p.T1141N|SYTL2_ENST00000527523.1_Missense_Mutation_p.T787N|SYTL2_ENST00000354566.3_Missense_Mutation_p.T1157N|SYTL2_ENST00000359152.5_Missense_Mutation_p.T1665N|SYTL2_ENST00000525702.1_Missense_Mutation_p.T261N|SYTL2_ENST00000533892.1_Missense_Mutation_p.T221N	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	819	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			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)		TGGAAGGATGGTACTACAAAA	0.398																																																	0								G	ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR	0,4406		0,0,2203	119	116	117		2456,662,2459,782,2384,3470,3422,782,749	3	1	11		117	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	SYTL2	NM_001162951.1,NM_001162952.1,NM_001162953.1,NM_032379.3,NM_032943.3,NM_206927.2,NM_206928.2,NM_206929.2,NM_206930.2	65,65,65,65,65,65,65,65,65	0,1,6501	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	819/935,221/337,820/936,261/377,795/911,1157/1273,1141/1257,261/377,250/366	85407429	1,13003	2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2456C>A	11.37:g.85407429G>T	ENSP00000431701:p.Thr819Asn		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T1665N	ENST00000528231.1	37	c.4994	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245253	0.59103	0.0	1.16E-4	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.95	3.03	0.35002	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.429966	0.28921	N	0.013701	T	0.60741	0.2292	N	0.19112	0.55	0.40955	D	0.984573	D;D;D;P;D;D;B;D;B;P	0.61080	0.976;0.986;0.989;0.828;0.971;0.96;0.317;0.982;0.082;0.662	P;P;D;P;P;P;B;P;B;B	0.64410	0.477;0.876;0.925;0.5;0.691;0.844;0.138;0.844;0.056;0.407	T	0.56226	-0.8014	9	.	.	.	-0.0199	10.6364	0.45567	0.2:0.0:0.8:0.0	.	787;795;819;820;637;1117;1141;1157;250;221	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	N	795;1665;1157;820;261;1141;261;250;536;819;221;787;795	ENSP00000374610:T795N;ENSP00000352065:T1665N;ENSP00000346576:T1157N;ENSP00000318803:T820N;ENSP00000432996:T261N;ENSP00000432694:T1141N;ENSP00000435855:T261N;ENSP00000374608:T250N;ENSP00000435009:T536N;ENSP00000431701:T819N;ENSP00000432144:T221N;ENSP00000434010:T787N;ENSP00000435238:T795N	.	T	-	2	0	SYTL2	85085077	1.000000	0.71417	0.996000	0.52242	0.593000	0.36681	4.174000	0.58256	0.385000	0.24970	0.655000	0.94253	ACC	SYTL2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85407429	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	1.000	T	T	85407429	G	T	85407429	3	4	190	1	0	0	0	0	1	0	0	0	15513	1261	44	4	356	4	SYTL2	11	85407429	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	22839558	85407429	49599087	76	36489										
GUCY1A2	2977	genome.wustl.edu	37	chr11	106680942	106680942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tagaatatagaagatccactGtcttctttttctcttcttcc	4	10	4	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:106680942G>T	ENST00000526355.2	-	5	1937	c.1469C>A	c.(1468-1470)aCa>aAa	p.T490K	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.T490K|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.T511K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	490					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AAGATCCACTGTCTTCTTTTT	0.443																																																	0													122	125	124					11																	106680942		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1469C>A	11.37:g.106680942G>T	ENSP00000431245:p.Thr490Lys		A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.T490K	ENST00000526355.2	37	c.1469	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634990	0.87760	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.90069	-2.61;-2.61;-2.61	5.47	5.47	0.80525	Haem NO binding associated (1);Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.46442	U	0.000290	D	0.95918	0.8671	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.994	D;D;D	0.80764	0.963;0.994;0.963	D	0.96698	0.9516	10	0.87932	D	0	.	18.315	0.90217	0.0:0.0:1.0:0.0	.	511;490;490	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	K	490;490;511	ENSP00000431245:T490K;ENSP00000282249:T490K;ENSP00000344874:T511K	ENSP00000282249:T490K	T	-	2	0	GUCY1A2	106186152	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.561000	0.86390	0.650000	0.86243	ACA	GUCY1A2	-	pfam_Haem_no_assoc-bd,smart_A/G_cyclase		0.443	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	G			106680942	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	missense	SNP	1.000	T	T	106680942	G	T	106680942	3	4	190	1	0	0	0	0	1	0	0	0	6913	1377	48	4	745	4	GUCY1A2	11	106680942	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	21273513	106680942	28325574	77	36490										
NNMT	4837	genome.wustl.edu	37	chr11	114183193	114183193	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gcgaggaagctgagcagaccCctgtgatgcctgtgacctca	13	12	1	4			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:114183193C>A	ENST00000535401.1	+	5	1053	c.789C>A	c.(787-789)ccC>ccA	p.P263P	NNMT_ENST00000299964.3_Silent_p.P263P|NNMT_ENST00000541754.1_Silent_p.P68P|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_Silent_p.P68P|NNMT_ENST00000545255.1_Silent_p.P68P			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	263					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TGAGCAGACCCCTGTGATGCC	0.478																																																	0													91	85	87					11																	114183193		2201	4296	6497	SO:0001819	synonymous_variant	4837			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.789C>A	11.37:g.114183193C>A				Silent	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.P263	ENST00000535401.1	37	c.789	CCDS8368.1	11																																																																																			NNMT	-	NULL		0.478	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNMT	HGNC	protein_coding	OTTHUMT00000398951.1	C	NM_006169		114183193	1	no_errors	ENST00000299964	ensembl	human	known	70_37	silent	SNP	0.029	A	A	114183193	C	A	114183193	2	1	190	1	0	0	0	0	0	0	0	1	10533	610	22	4		4	NNMT	11	114183193	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	7502251	114183193	20823323	78	36491										
NLRX1	79671	genome.wustl.edu	37	chr11	119045734	119045734	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	atcttccgtcgggatgccctGaggtttttcctggccccatg	11	13	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:119045734G>C	ENST00000409109.1	+	6	2009	c.1422G>C	c.(1420-1422)ctG>ctC	p.L474L	NLRX1_ENST00000409265.4_Silent_p.L474L|NLRX1_ENST00000292199.2_Silent_p.L474L|NLRX1_ENST00000525863.1_Silent_p.L474L|NLRX1_ENST00000409991.1_Silent_p.L474L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	474	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGATGCCCTGAGGTTTTTCC	0.597																																																	0													77	76	76					11																	119045734		2200	4295	6495	SO:0001819	synonymous_variant	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1422G>C	11.37:g.119045734G>C			A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L474	ENST00000409109.1	37	c.1422	CCDS8416.1	11																																																																																			NLRX1	-	NULL		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	G	NM_170722		119045734	1	no_errors	ENST00000292199	ensembl	human	known	70_37	silent	SNP	0.988	C	C	119045734	G	C	119045734	2	2	190	1	0	0	0	0	0	0	0	1	10509	1277	45	1		1	NLRX1	11	119045734	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	4862541	119045734	15960782	79	36492										
NLRX1	79671	genome.wustl.edu	37	chr11	119050694	119050694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cctggatgccctggagaatgCccaggccatcaagaagaagc	12	12	1	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:119050694C>T	ENST00000409109.1	+	7	2551	c.1964C>T	c.(1963-1965)gCc>gTc	p.A655V	NLRX1_ENST00000409265.4_Missense_Mutation_p.A655V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A655V|NLRX1_ENST00000525863.1_Missense_Mutation_p.A655V|NLRX1_ENST00000409991.1_Missense_Mutation_p.A655V	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	655	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGGAGAATGCCCAGGCCATC	0.592																																																	0													29	31	30					11																	119050694		2200	4294	6494	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1964C>T	11.37:g.119050694C>T	ENSP00000387334:p.Ala655Val		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.A655V	ENST00000409109.1	37	c.1964	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582319	0.65992	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70869	-0.42;-0.42;-0.52;-0.42;-0.52	5.33	5.33	0.75918	.	0.149175	0.47093	D	0.000253	T	0.66277	0.2773	N	0.24115	0.695	0.44652	D	0.997636	P;P	0.51351	0.944;0.819	P;B	0.48270	0.572;0.254	T	0.66340	-0.5948	10	0.35671	T	0.21	.	19.0214	0.92917	0.0:1.0:0.0:0.0	.	655;655	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	V	655	ENSP00000386851:A655V;ENSP00000292199:A655V;ENSP00000386858:A655V;ENSP00000387334:A655V;ENSP00000433442:A655V	ENSP00000292199:A655V	A	+	2	0	NLRX1	118555904	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.164000	0.77533	2.503000	0.84419	0.561000	0.74099	GCC	NLRX1	-	NULL		0.592	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119050694	1	no_errors	ENST00000292199	ensembl	human	known	70_37	missense	SNP	1.000	T	T	119050694	C	T	119050694	3	4	190	1	0	0	0	0	1	0	0	0	10509	739	26	4	1986	4	NLRX1	11	119050694	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	4960	119050694	15955822	80	36493										
C12orf35	55196	genome.wustl.edu	37	chr12	32135838	32135838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ggttttggacaactccttttGcagtggacaagaatcctcaa	9	9	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:32135838G>A	ENST00000312561.4	+	4	2363	c.1949G>A	c.(1948-1950)tGc>tAc	p.C650Y	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	650																	AACTCCTTTTGCAGTGGACAA	0.418																																																	0													67	64	65					12																	32135838		2203	4299	6502	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1949G>A	12.37:g.32135838G>A	ENSP00000310338:p.Cys650Tyr		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.C650Y	ENST00000312561.4	37	c.1949	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816193	0.32145	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.06608	3.99;3.28	4.7	1.15	0.20763	.	1.015890	0.07898	N	0.972257	T	0.08044	0.0201	L	0.29908	0.895	0.09310	N	1	P	0.50066	0.931	P	0.52309	0.695	T	0.37197	-0.9716	9	.	.	.	.	3.5219	0.07745	0.1064:0.1556:0.554:0.184	.	650	Q9HCM1	CL035_HUMAN	Y	650	ENSP00000310338:C650Y;ENSP00000370442:C650Y	.	C	+	2	0	C12orf35	32027105	0.000000	0.05858	0.070000	0.20053	0.014000	0.08584	-0.563000	0.05943	0.878000	0.35920	0.563000	0.77884	TGC	KIAA1551	-	NULL		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	G	NM_018169		32135838	1	no_errors	ENST00000312561	ensembl	human	known	70_37	missense	SNP	0.000	A	A	32135838	G	A	32135838	3	1	190	1	0	0	0	0	1	0	0	0	1686	1319	46	4	1951	4	C12orf35	12	32135838	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09		32135838	101716057	81	36494										
SFRS2IP	9169	genome.wustl.edu	37	chr12	46320408	46320408	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aggcccagagtttattttttCtgttatccaattgggacagt	9	7	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:46320408C>T	ENST00000369367.3	-	11	3309	c.3076G>A	c.(3076-3078)Gaa>Aaa	p.E1026K	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Missense_Mutation_p.E834K|SCAF11_ENST00000419565.2_Missense_Mutation_p.E1026K|SCAF11_ENST00000465950.1_Missense_Mutation_p.E711K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1026					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTATTTTTTCTGTTATCCAA	0.338																																																	0													124	130	128					12																	46320408		2203	4300	6503	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3076G>A	12.37:g.46320408C>T	ENSP00000358374:p.Glu1026Lys		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E1026K	ENST00000369367.3	37	c.3076	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.777013	0.90195	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.61742	0.08;0.77;0.08;0.77	5.81	5.81	0.92471	.	0.080423	0.53938	D	0.000046	T	0.74749	0.3757	L	0.56769	1.78	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.73341	-0.4013	10	0.51188	T	0.08	-15.4032	20.0664	0.97706	0.0:1.0:0.0:0.0	.	834;1026	F8VXG7;Q99590	.;SCAFB_HUMAN	K	711;1026;834;1026	ENSP00000449812:E711K;ENSP00000358374:E1026K;ENSP00000448864:E834K;ENSP00000413036:E1026K	ENSP00000358374:E1026K	E	-	1	0	SCAF11	44606675	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.655000	0.74392	2.735000	0.93741	0.655000	0.94253	GAA	SCAF11	-	NULL		0.338	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	C	NM_004719		46320408	-1	no_errors	ENST00000369367	ensembl	human	known	70_37	missense	SNP	1.000	T	T	46320408	C	T	46320408	3	4	190	1	0	0	0	0	1	0	0	0	14207	922	32	1	1335	1	SFRS2IP	12	46320408	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	14184570	46320408	87531487	82	36495										
SFRS2IP	9169	genome.wustl.edu	37	chr12	46320695	46320695	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	atctggacctagaccactttCtggttctcctttctctctct	5	14	5	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:46320695C>T	ENST00000369367.3	-	11	3022	c.2789G>A	c.(2788-2790)aGa>aAa	p.R930K	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Missense_Mutation_p.R738K|SCAF11_ENST00000419565.2_Missense_Mutation_p.R930K|SCAF11_ENST00000465950.1_Missense_Mutation_p.R615K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	930	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AGACCACTTTCTGGTTCTCCT	0.438																																																	0													135	138	137					12																	46320695		2203	4300	6503	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2789G>A	12.37:g.46320695C>T	ENSP00000358374:p.Arg930Lys		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R930K	ENST00000369367.3	37	c.2789	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485474	0.63962	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.68479	0.19;0.88;0.18;0.88;-0.33	6.17	5.29	0.74685	.	0.067678	0.64402	D	0.000007	T	0.64182	0.2575	M	0.68952	2.095	0.34180	D	0.670813	P;B	0.41450	0.75;0.379	B;B	0.36766	0.232;0.03	T	0.75045	-0.3456	10	0.36615	T	0.2	-11.9196	15.5723	0.76349	0.0:0.9345:0.0:0.0655	.	738;930	F8VXG7;Q99590	.;SCAFB_HUMAN	K	615;930;738;930;870	ENSP00000449812:R615K;ENSP00000358374:R930K;ENSP00000448864:R738K;ENSP00000413036:R930K;ENSP00000446746:R870K	ENSP00000358374:R930K	R	-	2	0	SCAF11	44606962	1.000000	0.71417	0.903000	0.35520	0.693000	0.40251	4.926000	0.63433	1.632000	0.50472	0.655000	0.94253	AGA	SCAF11	-	NULL		0.438	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	C	NM_004719		46320695	-1	no_errors	ENST00000369367	ensembl	human	known	70_37	missense	SNP	0.995	T	T	46320695	C	T	46320695	3	4	190	1	0	0	0	0	1	0	0	0	14207	913	32	1	1622	1	SFRS2IP	12	46320695	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	287	46320695	87531200	83	36496										
OS9	10956	genome.wustl.edu	37	chr12	58088581	58088581	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	cctctaagtacaaacagcgcTatgagtgtcgcctgccagct	9	13	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:58088581T>A	ENST00000315970.7	+	2	252	c.211T>A	c.(211-213)Tat>Aat	p.Y71N	RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.Y71N|OS9_ENST00000257966.8_Missense_Mutation_p.Y71N|OS9_ENST00000413095.2_Missense_Mutation_p.Y71N|OS9_ENST00000551035.1_Missense_Mutation_p.Y71N|OS9_ENST00000389146.6_Missense_Mutation_p.Y71N|OS9_ENST00000389142.5_Missense_Mutation_p.Y71N|OS9_ENST00000439210.2_Intron|OS9_ENST00000435406.2_Missense_Mutation_p.Y71N	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	71					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAAACAGCGCTATGAGTGTCG	0.557																																																	0													100	87	92					12																	58088581		2203	4300	6503	SO:0001583	missense	10956			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.211T>A	12.37:g.58088581T>A	ENSP00000318165:p.Tyr71Asn		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.Y71N	ENST00000315970.7	37	c.211	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140052	0.77775	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000547079;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000550372;ENST00000389142	T;T;T;T;T;T;T;T;T	0.63744	0.55;0.55;-0.06;0.52;0.37;0.89;0.56;0.87;0.49	4.88	4.88	0.63580	.	0.126644	0.56097	D	0.000036	T	0.69663	0.3136	L	0.34521	1.04	0.80722	D	1	D;D;P;P;P;P;B	0.89917	1.0;0.999;0.948;0.651;0.914;0.942;0.44	D;D;P;B;P;P;B	0.91635	0.999;0.996;0.861;0.273;0.729;0.526;0.147	T	0.73350	-0.4010	10	0.87932	D	0	.	13.6134	0.62092	0.0:0.0:0.0:1.0	.	71;71;71;71;71;71;71	F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	N	71	ENSP00000450010:Y71N;ENSP00000318165:Y71N;ENSP00000447031:Y71N;ENSP00000373798:Y71N;ENSP00000413112:Y71N;ENSP00000447866:Y71N;ENSP00000257966:Y71N;ENSP00000389632:Y71N;ENSP00000373794:Y71N	ENSP00000257966:Y71N	Y	+	1	0	OS9	56374848	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.491000	0.73649	2.051000	0.60960	0.260000	0.18958	TAT	OS9	-	NULL		0.557	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	T	NM_006812		58088581	1	no_errors	ENST00000315970	ensembl	human	known	70_37	missense	SNP	1.000	A	A	58088581	T	A	58088581	3	1	190	1	0	0	0	0	1	0	0	0	11296	1522	53	5	217	5	OS9	12	58088581	Missense_Mutation	SNP	T	TCGA-R2-A69V-01A-11D-A32I-09	11767886	58088581	75763314	84	36497										
VEZT	55591	genome.wustl.edu	37	chr12	95663916	95663916	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agctgtctaccgaactctaaGagccaacttccaagcagcaa	7	13	2	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:95663916G>C	ENST00000436874.1	+	6	905	c.800G>C	c.(799-801)aGa>aCa	p.R267T	VEZT_ENST00000261219.6_Missense_Mutation_p.R219T|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	267					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CGAACTCTAAGAGCCAACTTC	0.428																																																	0													55	52	53					12																	95663916		1892	4107	5999	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.800G>C	12.37:g.95663916G>C	ENSP00000410083:p.Arg267Thr		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.R267T	ENST00000436874.1	37	c.800	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985768	0.93044	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.46451	0.87;0.87;0.87	6.03	6.03	0.97812	.	0.043171	0.85682	D	0.000000	T	0.51398	0.1672	M	0.62723	1.935	0.58432	D	0.999999	P;D;P;D	0.60160	0.811;0.987;0.947;0.957	B;P;B;P	0.48368	0.433;0.575;0.439;0.575	T	0.39941	-0.9589	10	0.30854	T	0.27	-37.1181	20.5568	0.99304	0.0:0.0:1.0:0.0	.	267;267;223;219	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	T	267;219;223;267	ENSP00000410083:R267T;ENSP00000261219:R219T;ENSP00000380894:R223T	ENSP00000261219:R219T	R	+	2	0	VEZT	94188047	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.656000	0.83736	2.861000	0.98227	0.655000	0.94253	AGA	VEZT	-	NULL		0.428	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	G	NM_017599		95663916	1	no_errors	ENST00000436874	ensembl	human	known	70_37	missense	SNP	1.000	C	C	95663916	G	C	95663916	3	2	190	1	0	0	0	0	1	0	0	0	17187	942	33	1	822	1	VEZT	12	95663916	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	37575335	95663916	38187979	85	36498										
TMEM120B	144404	genome.wustl.edu	37	chr12	122212993	122212993	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gcagctctacaatgccgtcaCgctgtttgagctctccagcc	9	15	3	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:122212993C>G	ENST00000449592.2	+	11	964	c.863C>G	c.(862-864)aCg>aGg	p.T288R	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	288						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		AATGCCGTCACGCTGTTTGAG	0.652																																																	0													36	38	38					12																	122212993		1994	4174	6168	SO:0001583	missense	144404			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.863C>G	12.37:g.122212993C>G	ENSP00000404991:p.Thr288Arg		A0PK01|B3KX33	Missense_Mutation	SNP	pfam_TMPIT	p.T288R	ENST00000449592.2	37	c.863	CCDS41852.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.574557|4.574557	0.86542|0.86542	.|.	.|.	ENSG00000188735|ENSG00000188735	ENST00000541467|ENST00000449592	T|T	0.29397|0.32753	1.57|1.44	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60064|0.60064	0.2240|0.2240	M|M	0.84156|0.84156	2.68|2.68	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.72982	.|0.979	T|T	0.65755|0.65755	-0.6091|-0.6091	7|10	0.87932|0.66056	D|D	0|0.02	-18.4344|-18.4344	17.4796|17.4796	0.87669|0.87669	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|288	.|A0PK00	.|T120B_HUMAN	Q|R	245|288	ENSP00000442105:H245Q|ENSP00000404991:T288R	ENSP00000442105:H245Q|ENSP00000345152:T288R	H|T	+|+	3|2	2|0	TMEM120B|TMEM120B	120697376|120697376	1.000000|1.000000	0.71417|0.71417	0.798000|0.798000	0.32154|0.32154	0.655000|0.655000	0.38815|0.38815	4.730000|4.730000	0.62015|0.62015	2.420000|2.420000	0.82092|0.82092	0.561000|0.561000	0.74099|0.74099	CAC|ACG	TMEM120B	-	pfam_TMPIT		0.652	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120B	HGNC	protein_coding	OTTHUMT00000402158.1	C	NM_001080825		122212993	1	no_errors	ENST00000342607	ensembl	human	known	70_37	missense	SNP	1.000	G	G	122212993	C	G	122212993	3	3	190	1	0	0	0	0	1	0	0	0	16064	536	19	2	905	2	TMEM120B	12	122212993	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	26549077	122212993	11638902	86	36499										
GRK1	6011	genome.wustl.edu	37	chr13	114325861	114325861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gaaccctggcttcccggagcCgcgcgccctcttctacacgg	11	18	2	0	rs369158147		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr13:114325861C>T	ENST00000335678.6	+	3	1107	c.875C>T	c.(874-876)cCg>cTg	p.P292L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TTCCCGGAGCCGCGCGCCCTC	0.607																																																	0									LEU/PRO	0,4066		0,0,2033	46	52	50		875	3.6	0.2	13		50	2,8368		0,2,4183	no	missense	GRK1	NM_002929.2	98	0,2,6216	TT,TC,CC		0.0239,0.0,0.0161	possibly-damaging	292/564	114325861	2,12434	2033	4185	6218	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.875C>T	13.37:g.114325861C>T	ENSP00000334876:p.Pro292Leu		Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.P292L	ENST00000335678.6	37	c.875		13	.	.	.	.	.	.	.	.	.	.	c	7.998	0.754723	0.15778	0.0	2.39E-4	ENSG00000185974	ENST00000335678	T	0.64618	-0.11	4.43	3.58	0.41010	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.171853	0.52532	D	0.000074	T	0.38904	0.1058	.	.	.	0.45914	D	0.998755	P	0.47604	0.898	B	0.27796	0.083	T	0.29852	-0.9998	9	0.45353	T	0.12	-9.1647	5.5837	0.17264	0.1957:0.7004:0.0:0.1039	.	292	Q15835	RK_HUMAN	L	292	ENSP00000334876:P292L	ENSP00000334876:P292L	P	+	2	0	GRK1	113373862	0.300000	0.24435	0.168000	0.22838	0.039000	0.13416	2.513000	0.45494	0.962000	0.38057	0.506000	0.49869	CCG	GRK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.607	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1	C	NM_002929		114325861	1	no_errors	ENST00000335678	ensembl	human	known	70_37	missense	SNP	0.904	T	T	114325861	C	T	114325861	3	4	190	1	0	0	0	0	1	0	0	0	6810	652	23	2	885	2	GRK1	13	114325861	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		114325861	844017	87	36500										
ADCY4	196883	genome.wustl.edu	37	chr14	24792559	24792559	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ggaacactcactgggacactGatgagaggcagagacccagg	14	10	1	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr14:24792559G>A	ENST00000310677.4	-	18	2261	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	ADCY4_ENST00000396747.3_Silent_p.I409I|ADCY4_ENST00000418030.2_Silent_p.I716I|ADCY4_ENST00000554068.2_Silent_p.I716I	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	716					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTGGGACACTGATGAGAGGCA	0.557																																																	0													50	38	42					14																	24792559		2197	4264	6461	SO:0001819	synonymous_variant	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2148C>T	14.37:g.24792559G>A			B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I716	ENST00000310677.4	37	c.2148	CCDS9627.1	14																																																																																			ADCY4	-	NULL		0.557	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24792559	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	silent	SNP	0.991	A	A	24792559	G	A	24792559	2	1	190	1	0	0	0	0	0	0	0	1	296	1280	45	1		1	ADCY4	14	24792559	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09		24792559	82556981	88	36501										
PSMC1	5700	genome.wustl.edu	37	chr14	90726515	90726515	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agagtggggaaaaagaagaaGaaaacaaagggaccagatgc	14	4	0	5			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr14:90726515G>C	ENST00000261303.8	+	3	217	c.114G>C	c.(112-114)aaG>aaC	p.K38N	PSMC1_ENST00000543772.2_Intron	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	38					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)	p.K38K(1)		endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AAAAGAAGAAGAAAACAAAGG	0.408																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											119	134	129					14																	90726515		2203	4298	6501	SO:0001583	missense	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.114G>C	14.37:g.90726515G>C	ENSP00000261303:p.Lys38Asn		B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.K38N	ENST00000261303.8	37	c.114	CCDS32139.1	14	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576278	0.65878	.	.	ENSG00000100764	ENST00000261303	D	0.95307	-3.67	4.9	4.9	0.64082	.	0.057107	0.64402	D	0.000002	D	0.95146	0.8427	M	0.77616	2.38	0.80722	D	1	P	0.39094	0.659	B	0.42959	0.403	D	0.95484	0.8563	10	0.59425	D	0.04	-20.8528	18.6313	0.91360	0.0:0.0:1.0:0.0	.	38	P62191	PRS4_HUMAN	N	38	ENSP00000261303:K38N	ENSP00000261303:K38N	K	+	3	2	PSMC1	89796268	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.535000	0.98064	2.717000	0.92951	0.655000	0.94253	AAG	PSMC1	-	NULL		0.408	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC1	HGNC	protein_coding	OTTHUMT00000411253.1	G	NM_002802		90726515	1	no_errors	ENST00000261303	ensembl	human	known	70_37	missense	SNP	1.000	C	C	90726515	G	C	90726515	3	2	190	1	0	0	0	0	1	0	0	0	12712	933	33	1	124	1	PSMC1	14	90726515	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	65933956	90726515	16623025	89	36502										
TRIP11	9321	genome.wustl.edu	37	chr14	92484032	92484032	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	acaatttgacttaccttaatGatattttgtagtttacatat	4	5	0	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr14:92484032G>T	ENST00000267622.4	-	5	1024	c.651C>A	c.(649-651)atC>atA	p.I217I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	217					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTACCTTAATGATATTTTGTA	0.289			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													88	78	81					14																	92484032		2201	4297	6498	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.651C>A	14.37:g.92484032G>T			B2RUT2|O14689|O15154|O95949	Silent	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.I217	ENST00000267622.4	37	c.651	CCDS9899.1	14																																																																																			TRIP11	-	NULL		0.289	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	G			92484032	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	silent	SNP	0.939	T	T	92484032	G	T	92484032	2	4	190	1	0	0	0	0	0	0	0	1	16586	1280	45	3		3	TRIP11	14	92484032	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	1757517	92484032	14865508	90	36503										
C14orf49	161176	genome.wustl.edu	37	chr14	95912341	95912341	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	caggagtgccgtggctctctCctggccaaagatgccaatca	11	13	2	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr14:95912341C>G	ENST00000334258.5	-	8	1551	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	SYNE3_ENST00000557275.1_Missense_Mutation_p.E513Q|SYNE3_ENST00000553340.1_Missense_Mutation_p.E513Q|SYNE3_ENST00000554873.1_Missense_Mutation_p.E270Q	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	513					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GTGGCTCTCTCCTGGCCAAAG	0.572																																																	0													124	120	121					14																	95912341		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1537G>C	14.37:g.95912341C>G	ENSP00000334308:p.Glu513Gln		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.E513Q	ENST00000334258.5	37	c.1537	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136774	0.56936	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.18338	3.01;2.22;3.07;2.28	5.31	4.4	0.53042	.	0.356997	0.20097	N	0.099312	T	0.22003	0.0530	M	0.62016	1.91	0.41054	D	0.98532	P;P;P	0.48640	0.913;0.913;0.859	B;B;B	0.43754	0.43;0.43;0.248	T	0.03503	-1.1030	10	0.26408	T	0.33	-12.2424	13.9954	0.64392	0.0:0.7111:0.2889:0.0	.	513;513;513	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	Q	513;270;513;513	ENSP00000334308:E513Q;ENSP00000452154:E270Q;ENSP00000450562:E513Q;ENSP00000450774:E513Q	ENSP00000334308:E513Q	E	-	1	0	C14orf49	94982094	1.000000	0.71417	0.174000	0.22961	0.609000	0.37215	4.223000	0.58587	1.198000	0.43158	0.561000	0.74099	GAG	SYNE3	-	NULL		0.572	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	C	NM_152592		95912341	-1	no_errors	ENST00000334258	ensembl	human	known	70_37	missense	SNP	0.956	G	G	95912341	C	G	95912341	3	3	190	1	0	0	0	0	1	0	0	0	1780	864	30	1	1430	1	C14orf49	14	95912341	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	3428309	95912341	11437199	91	36504										
UBR1	197131	genome.wustl.edu	37	chr15	43335480	43335480	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gatactctgtaggactttgtTtccaaactatgtccacacga	7	10	1	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr15:43335480T>C	ENST00000290650.4	-	15	1860	c.1782A>G	c.(1780-1782)gaA>gaG	p.E594E	UBR1_ENST00000382177.2_Silent_p.E594E	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	594					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGGACTTTGTTTCCAAACTAT	0.403																																																	0													167	142	150					15																	43335480		2203	4299	6502	SO:0001819	synonymous_variant	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1782A>G	15.37:g.43335480T>C			O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E594	ENST00000290650.4	37	c.1782	CCDS10091.1	15																																																																																			UBR1	-	NULL		0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	T	NM_174916		43335480	-1	no_errors	ENST00000290650	ensembl	human	known	70_37	silent	SNP	0.975	C	C	43335480	T	C	43335480	2	2	190	1	0	0	0	0	0	0	0	1	16932	1838	64	5		5	UBR1	15	43335480	Silent	SNP	T	TCGA-R2-A69V-01A-11D-A32I-09		43335480	59195912	92	36505										
MEGF11	84465	genome.wustl.edu	37	chr15	66223260	66223260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gccataggtccctgctgcacAggaaacggcacagacctctc	10	15	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr15:66223260A>G	ENST00000409699.2	-	11	1481	c.1309T>C	c.(1309-1311)Tgt>Cgt	p.C437R	MEGF11_ENST00000288745.3_Missense_Mutation_p.C362R|MEGF11_ENST00000360698.4_Missense_Mutation_p.C437R|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.C362R|MEGF11_ENST00000422354.1_Missense_Mutation_p.C437R			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	437					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CCTGCTGCACAGGAAACGGCA	0.557																																																	0													81	57	65					15																	66223260		2201	4299	6500	SO:0001583	missense	84465			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1309T>C	15.37:g.66223260A>G	ENSP00000386908:p.Cys437Arg		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.C437R	ENST00000409699.2	37	c.1309	CCDS10213.2	15	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120429	0.56613	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698;ENST00000455812	T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.13	5.13	0.70059	EGF-like, laminin (1);EGF-like region, conserved site (1);	0.000000	0.45867	U	0.000325	D	0.91676	0.7369	H	0.99800	4.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95363	0.8457	10	0.87932	D	0	.	14.961	0.71156	1.0:0.0:0.0:0.0	.	437;362	A6BM72;A6BM72-2	MEG11_HUMAN;.	R	437;362;437;362;437;141	ENSP00000386908:C437R;ENSP00000288745:C362R;ENSP00000414475:C437R;ENSP00000378987:C362R;ENSP00000353919:C437R;ENSP00000401400:C141R	ENSP00000288745:C362R	C	-	1	0	MEGF11	64010314	1.000000	0.71417	0.992000	0.48379	0.280000	0.26924	8.827000	0.92041	1.927000	0.55829	0.459000	0.35465	TGT	MEGF11	-	pfam_EGF_laminin,smart_EGF_laminin		0.557	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2	A	NM_032445		66223260	-1	no_errors	ENST00000409699	ensembl	human	known	70_37	missense	SNP	1.000	G	G	66223260	A	G	66223260	3	3	190	1	0	0	0	0	1	0	0	0	9484	188	7	5	1877	5	MEGF11	15	66223260	Missense_Mutation	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	22887780	66223260	36308132	93	36506										
POLG	5428	genome.wustl.edu	37	chr15	89864364	89864364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gctcctgctcaccatgcatgCcggcaaagtgggcgtctcca	11	15	2	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr15:89864364C>A	ENST00000268124.5	-	17	3059	c.2726G>T	c.(2725-2727)gGc>gTc	p.G909V	POLG_ENST00000442287.2_Missense_Mutation_p.G909V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	909					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCATGCATGCCGGCAAAGTG	0.587								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0													74	82	79					15																	89864364		2200	4299	6499	SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2726G>T	15.37:g.89864364C>A	ENSP00000268124:p.Gly909Val		Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.G909V	ENST00000268124.5	37	c.2726	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627217	0.87560	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96522	-4.04;-4.04	5.24	5.24	0.73138	DNA-directed DNA polymerase, family A, palm domain (2);	0.104921	0.64402	D	0.000004	D	0.98018	0.9347	M	0.82716	2.605	0.80722	D	1	D	0.56968	0.978	D	0.63283	0.913	D	0.98701	1.0700	10	0.66056	D	0.02	-25.4374	18.8187	0.92088	0.0:1.0:0.0:0.0	.	909	P54098	DPOG1_HUMAN	V	909	ENSP00000268124:G909V;ENSP00000399851:G909V	ENSP00000268124:G909V	G	-	2	0	POLG	87665368	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.476000	0.81055	2.448000	0.82819	0.655000	0.94253	GGC	POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.587	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	C	NM_002693		89864364	-1	no_errors	ENST00000268124	ensembl	human	known	70_37	missense	SNP	1.000	A	A	89864364	C	A	89864364	3	1	190	1	0	0	0	0	1	0	0	0	12224	739	26	4	1021	4	POLG	15	89864364	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	23641104	89864364	12667028	94	36507										
ACSM5	54988	genome.wustl.edu	37	chr16	20451221	20451221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	atgtgaaaagggtgactgctCcatacaaataccccaggaag	10	9	0	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr16:20451221C>A	ENST00000331849.4	+	13	1783	c.1636C>A	c.(1636-1638)Cca>Aca	p.P546T	CTD-2194A8.2_ENST00000575772.1_RNA|CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	546					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGTGACTGCTCCATACAAATA	0.537																																																	0													94	88	90					16																	20451221		2203	4299	6502	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1636C>A	16.37:g.20451221C>A	ENSP00000327916:p.Pro546Thr		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P546T	ENST00000331849.4	37	c.1636	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571433	0.65765	.	.	ENSG00000183549	ENST00000331849	T	0.59638	0.25	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000035	T	0.79167	0.4400	M	0.85710	2.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.82963	-0.0196	10	0.87932	D	0	-14.9326	17.452	0.87594	0.0:1.0:0.0:0.0	.	546	Q6NUN0	ACSM5_HUMAN	T	546	ENSP00000327916:P546T	ENSP00000327916:P546T	P	+	1	0	ACSM5	20358722	1.000000	0.71417	0.723000	0.30687	0.446000	0.32137	6.419000	0.73345	2.487000	0.83934	0.655000	0.94253	CCA	ACSM5	-	NULL		0.537	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	C	NM_017888		20451221	1	no_errors	ENST00000331849	ensembl	human	known	70_37	missense	SNP	0.998	A	A	20451221	C	A	20451221	3	1	190	1	0	0	0	0	1	0	0	0	187	855	30	3	1682	3	ACSM5	16	20451221	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		20451221	69903532	95	36508										
SPNS2	124976	genome.wustl.edu	37	chr17	4436544	4436544	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ctctgtccccacagcctcatCtttggggccatcacctgctt	7	17	4	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:4436544C>G	ENST00000329078.3	+	8	1305	c.1095C>G	c.(1093-1095)atC>atG	p.I365M		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	365					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ACAGCCTCATCTTTGGGGCCA	0.677																																																	0													22	23	22					17																	4436544		1567	3581	5148	SO:0001583	missense	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1095C>G	17.37:g.4436544C>G	ENSP00000333292:p.Ile365Met		B9A1T3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I365M	ENST00000329078.3	37	c.1095	CCDS42237.1	17	.	.	.	.	.	.	.	.	.	.	c	16.13	3.035540	0.54896	.	.	ENSG00000183018	ENST00000329078	T	0.59772	0.24	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.53671	1.685	0.53688	D	0.999978	P	0.47604	0.898	P	0.53035	0.716	T	0.67373	-0.5687	10	0.87932	D	0	.	11.6353	0.51200	0.1778:0.8222:0.0:0.0	.	365	Q8IVW8	SPNS2_HUMAN	M	365	ENSP00000333292:I365M	ENSP00000333292:I365M	I	+	3	3	SPNS2	4383293	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	1.961000	0.40432	2.198000	0.70561	0.486000	0.48141	ATC	SPNS2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.677	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	C			4436544	1	no_errors	ENST00000329078	ensembl	human	known	70_37	missense	SNP	1.000	G	G	4436544	C	G	4436544	3	3	190	1	0	0	0	0	1	0	0	0	15105	903	32	1	1125	1	SPNS2	17	4436544	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		4436544	76758666	96	36509										
FMNL1	752	genome.wustl.edu	37	chr17	43322670	43322670	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gctccctgcagcgaggcctaGagttgacacagagagagttt	13	10	0	4			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:43322670G>C	ENST00000331495.3	+	22	3115	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	CTD-2020K17.4_ENST00000591361.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.E927Q|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.E505Q	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	927	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGAGGCCTAGAGTTGACACA	0.617																																					GBM(164;1247 1997 8702 11086 51972)												0													103	98	99					17																	43322670		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2779G>C	17.37:g.43322670G>C	ENSP00000329219:p.Glu927Gln		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E927Q	ENST00000331495.3	37	c.2779	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451410	0.84209	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.17854	2.25;2.25	4.18	4.18	0.49190	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	M	0.66378	2.025	0.80722	D	1	D	0.55385	0.971	P	0.62089	0.898	T	0.05370	-1.0889	10	0.20519	T	0.43	.	15.5655	0.76287	0.0:0.0:1.0:0.0	.	927	O95466	FMNL_HUMAN	Q	927;927;582	ENSP00000327442:E927Q;ENSP00000329219:E927Q	ENSP00000327442:E927Q	E	+	1	0	FMNL1	40678453	1.000000	0.71417	0.989000	0.46669	0.624000	0.37722	9.546000	0.98097	2.330000	0.79161	0.289000	0.19496	GAG	FMNL1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.617	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43322670	1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43322670	G	C	43322670	3	2	190	1	0	0	0	0	1	0	0	0	5969	943	33	1	2865	1	FMNL1	17	43322670	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	38886126	43322670	37872540	97	36510										
ACSF2	80221	genome.wustl.edu	37	chr17	48538695	48538695	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	aactcctatgcatgggtgctCatgcagttggccaccgccca	10	14	1	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:48538695C>G	ENST00000300441.4	+	3	521	c.417C>G	c.(415-417)ctC>ctG	p.L139L	ACSF2_ENST00000427954.2_Silent_p.L164L|ACSF2_ENST00000502667.1_Silent_p.L139L|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	139					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CATGGGTGCTCATGCAGTTGG	0.602																																																	0													53	43	46					17																	48538695		2203	4300	6503	SO:0001819	synonymous_variant	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.417C>G	17.37:g.48538695C>G			B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.L139	ENST00000300441.4	37	c.417	CCDS11567.1	17																																																																																			ACSF2	-	pfam_AMP-dep_Synth/Lig		0.602	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	C	NM_025149		48538695	1	no_errors	ENST00000300441	ensembl	human	known	70_37	silent	SNP	0.997	G	G	48538695	C	G	48538695	2	3	190	1	0	0	0	0	0	0	0	1	175	813	29	1		1	ACSF2	17	48538695	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	5216025	48538695	32656515	98	36511										
C17orf47	284083	genome.wustl.edu	37	chr17	56620839	56620839	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gacccttctctgggctgtctGatagtctgcagagacacagc	11	12	3	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:56620839G>C	ENST00000321691.3	-	1	890	c.709C>G	c.(709-711)Cag>Gag	p.Q237E	SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	237										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGCTGTCTGATAGTCTGCA	0.478																																																	0													95	101	99					17																	56620839		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.709C>G	17.37:g.56620839G>C	ENSP00000354874:p.Gln237Glu		Q8N821	Missense_Mutation	SNP	NULL	p.Q237E	ENST00000321691.3	37	c.709	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	G	7.130	0.579674	0.13686	.	.	ENSG00000181013	ENST00000321691	T	0.28666	1.6	4.93	2.86	0.33363	.	0.969053	0.08484	N	0.939009	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.27732	0.187	B	0.27500	0.08	T	0.33675	-0.9859	10	0.15499	T	0.54	-0.4789	6.5404	0.22377	0.0955:0.0:0.7256:0.1788	.	237	Q8NEP4	CQ047_HUMAN	E	237	ENSP00000354874:Q237E	ENSP00000354874:Q237E	Q	-	1	0	C17orf47	53975838	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	0.805000	0.27112	0.699000	0.31761	0.563000	0.77884	CAG	C17orf47	-	NULL		0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	HGNC	protein_coding	OTTHUMT00000445443.1	G	NM_001038704		56620839	-1	no_errors	ENST00000321691	ensembl	human	known	70_37	missense	SNP	0.001	C	C	56620839	G	C	56620839	3	2	190	1	0	0	0	0	1	0	0	0	1862	1299	45	1	1011	1	C17orf47	17	56620839	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	8082144	56620839	24574371	99	36512										
CD300A	11314	genome.wustl.edu	37	chr17	72469699	72469699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ttttgctctgagcaaatgcaGgaccgtggcgggccccgtgg	15	11	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:72469699G>T	ENST00000360141.3	+	2	353	c.65G>T	c.(64-66)aGg>aTg	p.R22M	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	22	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGCAAATGCAGGACCGTGGCG	0.587																																																	0													66	71	69					17																	72469699		2203	4300	6503	SO:0001583	missense	11314			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.65G>T	17.37:g.72469699G>T	ENSP00000353259:p.Arg22Met		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R22M	ENST00000360141.3	37	c.65	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	G	8.950	0.967890	0.18659	.	.	ENSG00000167851	ENST00000360141	T	0.68624	-0.34	4.06	-8.12	0.01078	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	7.574060	0.00166	N	0.000002	T	0.51143	0.1657	L	0.42581	1.335	0.09310	N	0.999999	B	0.22851	0.076	B	0.19148	0.024	T	0.34204	-0.9838	10	0.54805	T	0.06	.	2.6733	0.05074	0.4931:0.2249:0.1682:0.1137	.	22	Q9UGN4	CLM8_HUMAN	M	22	ENSP00000353259:R22M	ENSP00000353259:R22M	R	+	2	0	CD300A	69981294	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.650000	0.01991	-1.792000	0.01259	-1.872000	0.00552	AGG	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.587	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	G	NM_007261		72469699	1	no_errors	ENST00000360141	ensembl	human	known	70_37	missense	SNP	0.000	T	T	72469699	G	T	72469699	3	4	190	1	0	0	0	0	1	0	0	0	3001	1000	35	4	71	4	CD300A	17	72469699	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	15848860	72469699	8725511	100	36513										
TMC8	147138	genome.wustl.edu	37	chr17	76128481	76128481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ggtcctacttcaccttcctcCgcttcctgctgctactcaac	5	18	2	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:76128481C>A	ENST00000318430.5	+	4	714	c.340C>A	c.(340-342)Cgc>Agc	p.R114S	TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	114					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CACCTTCCTCCGCTTCCTGCT	0.687																																																	0													55	42	46					17																	76128481		2202	4300	6502	SO:0001583	missense	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.340C>A	17.37:g.76128481C>A	ENSP00000325561:p.Arg114Ser		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.R114S	ENST00000318430.5	37	c.340	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634560	0.67130	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.61040	0.14	4.28	4.28	0.50868	.	0.258257	0.36665	N	0.002461	T	0.76644	0.4016	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.80181	-0.1489	10	0.87932	D	0	-26.8287	9.4676	0.38822	0.2114:0.7886:0.0:0.0	.	114	Q8IU68	TMC8_HUMAN	S	114	ENSP00000325561:R114S	ENSP00000301627:R114S	R	+	1	0	TMC8	73640076	0.067000	0.21026	0.970000	0.41538	0.796000	0.44982	0.313000	0.19415	2.221000	0.72209	0.561000	0.74099	CGC	TMC8	-	NULL		0.687	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	C			76128481	1	no_errors	ENST00000318430	ensembl	human	known	70_37	missense	SNP	0.944	A	A	76128481	C	A	76128481	3	1	190	1	0	0	0	0	1	0	0	0	16021	652	23	2	350	2	TMC8	17	76128481	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	3658782	76128481	5066729	101	36514										
GAA	2548	genome.wustl.edu	37	chr17	78086486	78086486	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gggacgtgtggagctcctggGagcagctcgcctcctccgtg	16	13	0	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:78086486G>T	ENST00000302262.3	+	13	2083	c.1864G>T	c.(1864-1866)Gag>Tag	p.E622*	GAA_ENST00000390015.3_Nonsense_Mutation_p.E622*	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	622					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GAGCTCCTGGGAGCAGCTCGC	0.692																																																	0													15	16	15					17																	78086486		2197	4295	6492	SO:0001587	stop_gained	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1864G>T	17.37:g.78086486G>T	ENSP00000305692:p.Glu622*		Q09GN4|Q14351|Q16302|Q8IWE7	Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.E622*	ENST00000302262.3	37	c.1864	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	G	38	7.095939	0.98059	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	.	.	.	4.97	4.97	0.65823	.	0.104424	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-35.0846	16.9643	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	X	622	.	ENSP00000305692:E622X	E	+	1	0	GAA	75701081	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	3.935000	0.56560	2.270000	0.75569	0.561000	0.74099	GAG	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.692	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	G			78086486	1	no_errors	ENST00000302262	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	78086486	G	T	78086486	4	4	190	1	0	0	0	0	0	1	0	0	6165	1175	41	3	1910	3	GAA	17	78086486	Nonsense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	1958005	78086486	3108724	102	36515										
LPIN2	9663	genome.wustl.edu	37	chr18	2951060	2951060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ctgagagtcctaccgtgctgCctgggcccccttgtcatcat	10	15	2	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr18:2951060C>T	ENST00000261596.4	-	4	821	c.583G>A	c.(583-585)Gca>Aca	p.A195T	RP11-737O24.2_ENST00000584431.1_RNA|RP11-737O24.2_ENST00000581488.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	195					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TACCGTGCTGCCTGGGCCCCC	0.532																																																	0													134	116	122					18																	2951060		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.583G>A	18.37:g.2951060C>T	ENSP00000261596:p.Ala195Thr		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.A195T	ENST00000261596.4	37	c.583	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	C	5.355	0.250864	0.10130	.	.	ENSG00000101577	ENST00000261596;ENST00000455369	T	0.80214	-1.35	5.92	-1.21	0.09524	.	0.877676	0.10150	N	0.709700	T	0.62672	0.2447	L	0.33485	1.01	0.24583	N	0.993869	B	0.02656	0.0	B	0.04013	0.001	T	0.42258	-0.9462	10	0.13470	T	0.59	.	2.6544	0.05008	0.3263:0.3724:0.2076:0.0936	.	195	Q92539	LPIN2_HUMAN	T	195	ENSP00000261596:A195T	ENSP00000261596:A195T	A	-	1	0	LPIN2	2941060	0.000000	0.05858	0.969000	0.41365	0.021000	0.10359	-0.044000	0.12023	-0.022000	0.13986	-0.274000	0.10170	GCA	LPIN2	-	NULL		0.532	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2951060	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	missense	SNP	0.760	T	T	2951060	C	T	2951060	3	4	190	1	0	0	0	0	1	0	0	0	8942	739	26	4	2175	4	LPIN2	18	2951060	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		2951060	75126188	103	36516										
RNF125	54941	genome.wustl.edu	37	chr18	29645950	29645950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	acatctgcaagttagtcacaCtttgttttatgatgatttca	6	7	3	2	rs533221261		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr18:29645950C>G	ENST00000217740.3	+	5	1082	c.590C>G	c.(589-591)aCt>aGt	p.T197S	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	197					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GTTAGTCACACTTTGTTTTAT	0.343													C|||	1	0.000199681	8e-04	0	5008	,	,		16476	0		0	False		,,,				2504	0																0													155	149	151					18																	29645950		2203	4300	6503	SO:0001583	missense	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.590C>G	18.37:g.29645950C>G	ENSP00000217740:p.Thr197Ser		Q9NX39	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T197S	ENST00000217740.3	37	c.590	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054978	0.36277	.	.	ENSG00000101695	ENST00000217740	D	0.81821	-1.54	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000027	T	0.82144	0.4973	N	0.22421	0.69	0.33060	D	0.533898	D	0.63880	0.993	D	0.68192	0.956	T	0.83322	-0.0017	10	0.31617	T	0.26	-12.34	15.6128	0.76740	0.0:1.0:0.0:0.0	.	197	Q96EQ8	RN125_HUMAN	S	197	ENSP00000217740:T197S	ENSP00000217740:T197S	T	+	2	0	RNF125	27899948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.799000	0.55529	2.755000	0.94549	0.637000	0.83480	ACT	RNF125	-	NULL		0.343	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	C	NM_017831		29645950	1	no_errors	ENST00000217740	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29645950	C	G	29645950	3	3	190	1	0	0	0	0	1	0	0	0	13464	565	20	4	608	4	RNF125	18	29645950	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	26694890	29645950	48431298	104	36517										
RNF126	55658	genome.wustl.edu	37	chr19	651748	651748	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tcagggtccctgccgtcgtcAgcctgcgccccaggagggaa	14	15	2	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:651748A>C	ENST00000292363.5	-	4	461	c.306T>G	c.(304-306)gcT>gcG	p.A102A		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGTCGTCAGCCTGCGCCC	0.697																																																	0													35	31	33					19																	651748		2200	4299	6499	SO:0001819	synonymous_variant	55658			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"RING-type (C3HC4) zinc fingers"	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.306T>G	19.37:g.651748A>C				Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A102	ENST00000292363.5	37	c.306	CCDS12039.1	19																																																																																			RNF126	-	NULL		0.697	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	A	NM_017876		651748	-1	no_errors	ENST00000292363	ensembl	human	known	70_37	silent	SNP	0.000	C	C	651748	A	C	651748	2	2	190	1	0	0	0	0	0	0	0	1	13465	175	7	5		5	RNF126	19	651748	Silent	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09		651748	58477235	105	36518										
ACTL9	284382	genome.wustl.edu	37	chr19	8808989	8808989	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	acgttgggactggggtttggGccgggcctgggggcctccag	20	10	0	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:8808989G>C	ENST00000324436.3	-	1	183	c.63C>G	c.(61-63)ggC>ggG	p.G21G		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	21						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGGGGTTTGGGCCGGGCCTGG	0.662																																																	0													45	58	54					19																	8808989		2192	4288	6480	SO:0001819	synonymous_variant	284382				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.63C>G	19.37:g.8808989G>C			A8K893|Q6X960	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.G21	ENST00000324436.3	37	c.63	CCDS12207.1	19																																																																																			ACTL9	-	NULL		0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1	G	NM_178525		8808989	-1	no_errors	ENST00000324436	ensembl	human	known	70_37	silent	SNP	0.004	C	C	8808989	G	C	8808989	2	2	190	1	0	0	0	0	0	0	0	1	203	1190	42	4		4	ACTL9	19	8808989	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	8157241	8808989	50319994	106	36519										
SLC44A2	57153	genome.wustl.edu	37	chr19	10753987	10753987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agaggaatgacggctcggccGagaggccttacttcatgtct	13	10	2	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:10753987G>A	ENST00000335757.5	+	22	2423	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	SLC44A2_ENST00000407327.4_Missense_Mutation_p.E681K|SLC44A2_ENST00000586078.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	683					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.E683K(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGCTCGGCCGAGAGGCCTTA	0.607																																																	1	Substitution - Missense(1)	lung(1)											38	34	36					19																	10753987		2203	4300	6503	SO:0001583	missense	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2047G>A	19.37:g.10753987G>A	ENSP00000336888:p.Glu683Lys		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.E683K	ENST00000335757.5	37	c.2047	CCDS12245.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.535702	0.96460	.	.	ENSG00000129353	ENST00000407327;ENST00000335757	T;T	0.11495	2.77;2.77	5.19	5.19	0.71726	.	0.099641	0.64402	D	0.000002	T	0.36026	0.0952	M	0.85299	2.745	0.80722	D	1	P;D	0.67145	0.879;0.996	B;P	0.62491	0.324;0.903	T	0.29150	-1.0021	10	0.62326	D	0.03	.	17.4847	0.87684	0.0:0.0:1.0:0.0	.	683;681	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	K	681;683	ENSP00000385135:E681K;ENSP00000336888:E683K	ENSP00000336888:E683K	E	+	1	0	SLC44A2	10614987	1.000000	0.71417	0.961000	0.40146	0.936000	0.57629	7.359000	0.79477	2.427000	0.82271	0.563000	0.77884	GAG	SLC44A2	-	NULL		0.607	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	G			10753987	1	no_errors	ENST00000335757	ensembl	human	known	70_37	missense	SNP	1.000	A	A	10753987	G	A	10753987	3	1	190	1	0	0	0	0	1	0	0	0	14666	1059	37	1	2168	1	SLC44A2	19	10753987	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	1944998	10753987	48374996	107	36520										
EMR2	30817	genome.wustl.edu	37	chr19	14884841	14884841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gtggcattgacacacgaggaGtcctgagggcaccaccgggc	15	12	0	2	rs41360944	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:14884841G>T	ENST00000315576.3	-	4	559	c.108C>A	c.(106-108)gaC>gaA	p.D36E	EMR2_ENST00000346057.1_Missense_Mutation_p.D36E|EMR2_ENST00000594076.1_Missense_Mutation_p.D36E|EMR2_ENST00000353005.1_Missense_Mutation_p.D36E|EMR2_ENST00000595839.1_Missense_Mutation_p.D36E|EMR2_ENST00000596991.2_Missense_Mutation_p.D36E|EMR2_ENST00000601345.1_Missense_Mutation_p.D36E|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000594294.1_Missense_Mutation_p.D36E|EMR2_ENST00000392967.2_Missense_Mutation_p.D36E|EMR2_ENST00000353876.1_Missense_Mutation_p.D36E|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000392965.3_Missense_Mutation_p.D36E	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	36	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CACACGAGGAGTCCTGAGGGC	0.587																																																	0													127	117	121					19																	14884841		2203	4300	6503	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.108C>A	19.37:g.14884841G>T	ENSP00000319883:p.Asp36Glu		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.D36E	ENST00000315576.3	37	c.108	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739838	0.30865	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	T;T;T;T;T;T;T	0.78364	-0.85;-0.97;-0.39;0.45;1.1;-1.17;-1.06	3.87	-7.12	0.01537	.	.	.	.	.	T	0.49029	0.1533	N	0.08118	0	0.80722	P	0.0	B;B;B;B;B;B;B	0.15473	0.0;0.001;0.009;0.013;0.001;0.003;0.001	B;B;B;B;B;B;B	0.17979	0.0;0.01;0.005;0.02;0.016;0.005;0.006	T	0.36187	-0.9758	8	0.72032	D	0.01	.	0.1596	0.00102	0.2824:0.2656:0.1832:0.2688	.	36;36;36;36;36;36;36	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	E	36	ENSP00000319883:D36E;ENSP00000376694:D36E;ENSP00000263380:D36E;ENSP00000319454:D36E;ENSP00000319838:D36E;ENSP00000376692:D36E;ENSP00000376689:D36E	ENSP00000319883:D36E	D	-	3	2	EMR2	14745841	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.021000	0.01440	-1.076000	0.03125	-0.507000	0.04495	GAC	EMR2	-	smart_EG-like_dom,prints_GPCR_2_CD97		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	G			14884841	-1	no_errors	ENST00000596991	ensembl	human	known	70_37	missense	SNP	0.000	T	T	14884841	G	T	14884841	3	4	190	1	0	0	0	0	1	0	0	0	5117	1020	36	4	2435	4	EMR2	19	14884841	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	4130854	14884841	44244142	108	36521										
CILP2	148113	genome.wustl.edu	37	chr19	19656052	19656052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ctgccagccacttccgcttcGccagggtggaggcggacaag	14	14	0	0	rs541483234		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:19656052G>A	ENST00000291495.5	+	8	2783	c.2698G>A	c.(2698-2700)Gcc>Acc	p.A900T	CILP2_ENST00000586018.1_Missense_Mutation_p.A906T	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	900						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTTCCGCTTCGCCAGGGTGGA	0.692																																																	0													32	28	29					19																	19656052		2200	4289	6489	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2698G>A	19.37:g.19656052G>A	ENSP00000291495:p.Ala900Thr		Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.A900T	ENST00000291495.5	37	c.2698	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622226	0.46840	.	.	ENSG00000160161	ENST00000291495	T	0.09911	2.93	5.5	-1.84	0.07809	.	0.238723	0.43579	D	0.000556	T	0.04907	0.0132	N	0.08118	0	0.24556	N	0.99399	B;B	0.34399	0.452;0.452	B;B	0.26969	0.058;0.075	T	0.28870	-1.0030	10	0.59425	D	0.04	-10.7293	15.2121	0.73235	0.0:0.0:0.2596:0.7404	.	900;900	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	T	900	ENSP00000291495:A900T	ENSP00000291495:A900T	A	+	1	0	CILP2	19517052	0.979000	0.34478	0.163000	0.22734	0.891000	0.51852	3.574000	0.53863	-0.129000	0.11620	-0.320000	0.08662	GCC	CILP2	-	NULL		0.692	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	G	NM_153221		19656052	1	no_errors	ENST00000291495	ensembl	human	known	70_37	missense	SNP	0.932	A	A	19656052	G	A	19656052	3	1	190	1	0	0	0	0	1	0	0	0	3435	1087	38	2	2728	2	CILP2	19	19656052	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	4771211	19656052	39472931	109	36522										
SLC7A9	11136	genome.wustl.edu	37	chr19	33359429	33359429	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tctctccgctttctcaggccAgtatcccccatgtttcctcc	5	18	2	0	rs142572851		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:33359429A>G	ENST00000023064.4	-	2	203	c.12T>C	c.(10-12)acT>acC	p.T4T	SLC7A9_ENST00000587772.1_Silent_p.T4T|SLC7A9_ENST00000590341.1_Silent_p.T4T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	4					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TTCTCAGGCCAGTATCCCCCA	0.562																																					GBM(181;1335 2108 9644 44178 46689)												0								A	,	1,4405	2.1+/-5.4	0,1,2202	167	113	131		12,12	-10.6	0	19	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC7A9	NM_001126335.1,NM_014270.4	,	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	,	4/488,4/488	33359429	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.12T>C	19.37:g.33359429A>G			B2R9A6	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.T4	ENST00000023064.4	37	c.12	CCDS12425.1	19																																																																																			SLC7A9	-	NULL		0.562	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	A			33359429	-1	no_errors	ENST00000023064	ensembl	human	known	70_37	silent	SNP	0.000	G	G	33359429	A	G	33359429	2	3	190	1	0	0	0	0	0	0	0	1	14735	175	7	5		5	SLC7A9	19	33359429	Silent	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	13703377	33359429	25769554	110	36523										
ZNF599	148103	genome.wustl.edu	37	chr19	35258275	35258275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tgtccacagttcctgtccatGttccagtagatagatcagct	8	11	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:35258275G>T	ENST00000329285.8	-	3	560	c.187C>A	c.(187-189)Cat>Aat	p.H63N	ZNF599_ENST00000587354.2_Missense_Mutation_p.H63N|ZNF599_ENST00000588760.1_Missense_Mutation_p.H63N	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCTGTCCATGTTCCAGTAGA	0.517																																																	0													114	93	100					19																	35258275		2203	4300	6503	SO:0001583	missense	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.187C>A	19.37:g.35258275G>T	ENSP00000333802:p.His63Asn		Q569K0|Q5PRG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H63N	ENST00000329285.8	37	c.187	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	G	10.82	1.456961	0.26161	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000379196	T	0.00724	5.78	2.76	-0.582	0.11709	Krueppel-associated box (3);	.	.	.	.	T	0.00637	0.0021	N	0.25094	0.71	0.09310	N	1	B	0.22851	0.076	B	0.17979	0.02	T	0.46803	-0.9165	9	0.59425	D	0.04	.	3.3672	0.07207	0.3827:0.2061:0.4112:0.0	.	63	Q96NL3	ZN599_HUMAN	N	62;63;57	ENSP00000333802:H63N	ENSP00000333802:H63N	H	-	1	0	ZNF599	39950115	0.000000	0.05858	0.000000	0.03702	0.588000	0.36517	-0.477000	0.06583	-0.028000	0.13850	0.491000	0.48974	CAT	ZNF599	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.517	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	G	XM_086046		35258275	-1	no_errors	ENST00000329285	ensembl	human	known	70_37	missense	SNP	0.000	T	T	35258275	G	T	35258275	3	4	190	1	0	0	0	0	1	0	0	0	18059	1377	48	4	1587	4	ZNF599	19	35258275	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	1898846	35258275	23870708	111	36524										
ZNF283	284349	genome.wustl.edu	37	chr19	44351423	44351423	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gtcatggctcaaaacttgttCaacatgagagaactcataca	7	9	4	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:44351423C>G	ENST00000324461.7	+	7	967	c.670C>G	c.(670-672)Caa>Gaa	p.Q224E	ZNF283_ENST00000588797.1_Missense_Mutation_p.Q85E	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAAACTTGTTCAACATGAGAG	0.353																																																	0													58	63	61					19																	44351423		2080	4247	6327	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.670C>G	19.37:g.44351423C>G	ENSP00000327314:p.Gln224Glu		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q224E	ENST00000324461.7	37	c.670	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.712038	0.00712	.	.	ENSG00000167637	ENST00000324461	T	0.16324	2.35	3.58	-0.284	0.12870	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	N	0.21545	0.675	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.37979	-0.9682	9	0.09338	T	0.73	.	12.2788	0.54753	0.0:0.5123:0.4877:0.0	.	224	Q8N7M2	ZN283_HUMAN	E	224	ENSP00000327314:Q224E	ENSP00000327314:Q224E	Q	+	1	0	ZNF283	49043263	0.000000	0.05858	0.111000	0.21465	0.767000	0.43475	-0.688000	0.05150	0.288000	0.22398	0.563000	0.77884	CAA	ZNF283	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	C	NM_181845		44351423	1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.000	G	G	44351423	C	G	44351423	3	3	190	1	0	0	0	0	1	0	0	0	17850	827	29	1	684	1	ZNF283	19	44351423	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	9093148	44351423	14777560	112	36525										
DHX34	9704	genome.wustl.edu	37	chr19	47880373	47880373	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tcagacgacaaggacaagatGagcagcaaacaccagctcct	9	12	1	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:47880373G>C	ENST00000328771.4	+	13	2965	c.2616G>C	c.(2614-2616)atG>atC	p.M872I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	872					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGGACAAGATGAGCAGCAAAC	0.622																																																	0													97	81	86					19																	47880373		2203	4300	6503	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2616G>C	19.37:g.47880373G>C	ENSP00000331907:p.Met872Ile		B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M872I	ENST00000328771.4	37	c.2616	CCDS12700.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.481|8.481	0.859702|0.859702	0.17178|0.17178	.|.	.|.	ENSG00000134815|ENSG00000134815	ENST00000328771|ENST00000257252	T|.	0.02421|.	4.3|.	3.43|3.43	3.43|3.43	0.39272|0.39272	Domain of unknown function DUF1605 (1);|.	0.641491|.	0.14207|.	N|.	0.334303|.	T|.	0.37320|.	0.0999|.	L|L	0.35414|0.35414	1.06|1.06	0.28367|0.28367	N|N	0.920178|0.920178	B|.	0.19331|.	0.035|.	B|.	0.17979|.	0.02|.	T|.	0.21655|.	-1.0239|.	10|.	0.37606|.	T|.	0.19|.	-33.5822|-33.5822	10.8892|10.8892	0.46986|0.46986	0.0:0.1932:0.8068:0.0|0.0:0.1932:0.8068:0.0	.|.	872|.	Q14147|.	DHX34_HUMAN|.	I|S	872|577	ENSP00000331907:M872I|.	ENSP00000331907:M872I|.	M|X	+|+	3|2	0|2	DHX34|DHX34	52572171|52572171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	4.053000|4.053000	0.57427|0.57427	1.917000|1.917000	0.55516|0.55516	0.561000|0.561000	0.74099|0.74099	ATG|TGA	DHX34	-	pfam_DUF1605		0.622	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	G	NM_014681		47880373	1	no_errors	ENST00000328771	ensembl	human	known	70_37	missense	SNP	1.000	C	C	47880373	G	C	47880373	3	2	190	1	0	0	0	0	1	0	0	0	4517	1290	45	1	2662	1	DHX34	19	47880373	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	3528950	47880373	11248610	113	36526										
LMTK3	114783	genome.wustl.edu	37	chr19	48994757	48994757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tgacgggtccgtgtccccctCggggggggcctggacgctca	17	14	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:48994757C>T	ENST00000600059.1	-	13	4359	c.4132G>A	c.(4132-4134)Gag>Aag	p.E1378K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1407K			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1378	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTGTCCCCCTCGGGGGGGGCC	0.657																																																	0													6	7	6					19																	48994757		1731	3887	5618	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4132G>A	19.37:g.48994757C>T	ENSP00000472020:p.Glu1378Lys		Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1407K	ENST00000600059.1	37	c.4219		19	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882231	0.72294	.	.	ENSG00000142235	ENST00000270238	T	0.76448	-1.02	3.49	3.49	0.39957	.	0.338535	0.23250	N	0.050256	T	0.78246	0.4253	N	0.24115	0.695	0.32638	N	0.521077	D	0.76494	0.999	D	0.68621	0.959	T	0.80944	-0.1156	10	0.41790	T	0.15	.	12.9082	0.58164	0.0:1.0:0.0:0.0	.	1378	Q96Q04	LMTK3_HUMAN	K	1407	ENSP00000270238:E1407K	ENSP00000270238:E1407K	E	-	1	0	LMTK3	53686569	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.823000	0.55715	1.977000	0.57605	0.424000	0.28305	GAG	LMTK3	-	NULL		0.657	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	C	NM_052895		48994757	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48994757	C	T	48994757	3	4	190	1	0	0	0	0	1	0	0	0	8881	893	31	1	262	1	LMTK3	19	48994757	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	1114384	48994757	10134226	114	36527										
SULF2	55959	genome.wustl.edu	37	chr20	46311744	46311744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gatgacacacttacagacagCcggcttccacgttggggccc	11	14	0	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr20:46311744C>A	ENST00000359930.4	-	7	1909	c.1058G>T	c.(1057-1059)gGc>gTc	p.G353V	SULF2_ENST00000361612.4_Missense_Mutation_p.G353V|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.G353V|SULF2_ENST00000467815.1_Missense_Mutation_p.G353V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	353					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTACAGACAGCCGGCTTCCAC	0.612																																																	0													60	57	58					20																	46311744		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1058G>T	20.37:g.46311744C>A	ENSP00000353007:p.Gly353Val		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.G353V	ENST00000359930.4	37	c.1058	CCDS13408.1	20	.	.	.	.	.	.	.	.	.	.	c	23.5	4.426155	0.83667	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	4.71	4.71	0.59529	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.961;0.995	D	0.98991	1.0808	10	0.87932	D	0	-23.7202	18.2542	0.90014	0.0:1.0:0.0:0.0	.	353;353	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	V	353	ENSP00000353007:G353V;ENSP00000418290:G353V;ENSP00000354662:G353V;ENSP00000418442:G353V	ENSP00000353007:G353V	G	-	2	0	SULF2	45745151	0.998000	0.40836	0.996000	0.52242	0.728000	0.41692	7.210000	0.77924	2.607000	0.88179	0.537000	0.68136	GGC	SULF2	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.612	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1	C	NM_018837		46311744	-1	no_errors	ENST00000359930	ensembl	human	known	70_37	missense	SNP	1.000	A	A	46311744	C	A	46311744	3	1	190	1	0	0	0	0	1	0	0	0	15401	739	26	4	1614	4	SULF2	20	46311744	Missense_Mutation	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09		46311744	16713776	115	36528										
SALL4	57167	genome.wustl.edu	37	chr20	50408527	50408527	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gctaaatagcttatgtcctgGggggtgggtggcagggctgt	18	6	0	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr20:50408527G>T	ENST00000217086.4	-	2	606	c.495C>A	c.(493-495)ccC>ccA	p.P165P	SALL4_ENST00000395997.3_Silent_p.P165P|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	165					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTATGTCCTGGGGGGTGGGTG	0.582																																																	0													133	136	135					20																	50408527		2203	4300	6503	SO:0001819	synonymous_variant	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.495C>A	20.37:g.50408527G>T			A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P165	ENST00000217086.4	37	c.495	CCDS13438.1	20																																																																																			SALL4	-	NULL		0.582	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	G			50408527	-1	no_errors	ENST00000217086	ensembl	human	known	70_37	silent	SNP	0.121	T	T	50408527	G	T	50408527	2	4	190	1	0	0	0	0	0	0	0	1	13843	1219	43	4		4	SALL4	20	50408527	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	4096783	50408527	12616993	116	36529										
APCDD1L	164284	genome.wustl.edu	37	chr20	57036492	57036492	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ctgggcgcacctcgcaccccGagctgacccaccagccgccc	10	22	0	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr20:57036492G>C	ENST00000371149.3	-	4	1090	c.860C>G	c.(859-861)tCg>tGg	p.S287W	APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298W|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	287						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTCGCACCCCGAGCTGACCCA	0.687																																																	0													10	10	10					20																	57036492		2164	4254	6418	SO:0001583	missense	164284			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.860C>G	20.37:g.57036492G>C	ENSP00000360191:p.Ser287Trp			Missense_Mutation	SNP	NULL	p.S298W	ENST00000371149.3	37	c.893	CCDS13467.1	20	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097162	0.20552	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.19105	2.17;2.17	4.44	2.01	0.26516	.	1.721060	0.02886	N	0.133503	T	0.30479	0.0766	L	0.39898	1.24	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.54238	0.746;0.666	T	0.14615	-1.0466	10	0.59425	D	0.04	-1.2958	6.7257	0.23355	0.1959:0.1501:0.654:0.0	.	298;287	F5H6V6;Q8NCL9	.;APCDL_HUMAN	W	287;298	ENSP00000360191:S287W;ENSP00000413261:S298W	ENSP00000360191:S287W	S	-	2	0	APCDD1L	56469898	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	1.772000	0.38552	0.830000	0.34757	0.563000	0.77884	TCG	APCDD1L	-	NULL		0.687	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APCDD1L	HGNC	protein_coding	OTTHUMT00000079881.2	G	NM_153360		57036492	-1	no_errors	ENST00000439429	ensembl	human	known	70_37	missense	SNP	0.000	C	C	57036492	G	C	57036492	3	2	190	1	0	0	0	0	1	0	0	0	766	1059	37	1	649	1	APCDD1L	20	57036492	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	6627965	57036492	5989028	117	36530										
KLHL15	80311	genome.wustl.edu	37	chrX	24006341	24006341	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	gaagggcatccctgagattcGaaagaggccctcaagatcac	11	11	2	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:24006341G>A	ENST00000328046.8	-	4	1767	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	504					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CCTGAGATTCGAAAGAGGCCC	0.468																																																	0													145	134	138					X																	24006341		2203	4300	6503	SO:0001819	synonymous_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1512C>T	X.37:g.24006341G>A			Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F504	ENST00000328046.8	37	c.1512	CCDS35217.1	X																																																																																			KLHL15	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.468	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	G	XM_040383		24006341	-1	no_errors	ENST00000328046	ensembl	human	known	70_37	silent	SNP	1.000	A	A	24006341	G	A	24006341	2	1	190	1	0	0	0	0	0	0	0	1	8391	1049	37	1		1	KLHL15	23	24006341	Silent	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09		24006341	131264219	118	36531										
RBM10	8241	genome.wustl.edu	37	chrX	47045755	47045755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agagggcagcggcctgggccGcaagaagcagggcattgtaa	17	9	0	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:47045755G>A	ENST00000377604.3	+	23	3378	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H	RBM10_ENST00000345781.6_Missense_Mutation_p.R802H|RBM10_ENST00000329236.7_Missense_Mutation_p.R801H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	879	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GGCCTGGGCCGCAAGAAGCAG	0.632																																					Melanoma(171;120 2705 19495 39241)												0													59	55	57					X																	47045755		2198	4293	6491	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2636G>A	X.37:g.47045755G>A	ENSP00000366829:p.Arg879His		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R879H	ENST00000377604.3	37	c.2636	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328312	0.81690	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.32753	1.44;1.44;1.44	5.53	5.53	0.82687	D111/G-patch (3);	0.000000	0.56097	D	0.000034	T	0.57007	0.2024	M	0.76328	2.33	0.46167	D	0.998907	D;D;P;D;D	0.89917	0.999;1.0;0.867;0.999;1.0	D;D;P;D;D	0.97110	0.95;1.0;0.622;0.95;0.997	T	0.60712	-0.7209	10	0.87932	D	0	-15.9455	16.0209	0.80493	0.0:0.0:1.0:0.0	.	802;944;878;801;879	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	879;801;802	ENSP00000366829:R879H;ENSP00000328848:R801H;ENSP00000329659:R802H	ENSP00000328848:R801H	R	+	2	0	RBM10	46930699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.736000	0.84948	2.471000	0.83476	0.600000	0.82982	CGC	RBM10	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.632	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	G	NM_005676		47045755	1	no_errors	ENST00000377604	ensembl	human	known	70_37	missense	SNP	1.000	A	A	47045755	G	A	47045755	3	1	190	1	0	0	0	0	1	0	0	0	13141	1087	38	2	2722	2	RBM10	23	47045755	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	23039414	47045755	108224805	119	36532										
ZNF81	347344	genome.wustl.edu	37	chrX	47755252	47755252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tcctgttaacagggttcgaaGttcctaaaccagaggtcatc	9	10	1	1			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:47755252G>T	ENST00000376954.1	+	5	558	c.190G>T	c.(190-192)Gtt>Ttt	p.V64F	ZNF81_ENST00000338637.7_Missense_Mutation_p.V64F			P51508	ZNF81_HUMAN	zinc finger protein 81	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGGGTTCGAAGTTCCTAAACC	0.483																																																	0													78	73	75					X																	47755252		2200	4300	6500	SO:0001583	missense	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.190G>T	X.37:g.47755252G>T	ENSP00000366153:p.Val64Phe		Q6RX22|Q96QH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V64F	ENST00000376954.1	37	c.190	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	G	5.620	0.299192	0.10622	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000376950;ENST00000399918	T;T;T	0.48522	0.81;0.81;0.81	4.06	0.253	0.15551	Krueppel-associated box (3);	0.190320	0.26003	N	0.026933	T	0.34048	0.0884	L	0.48986	1.54	0.23063	N	0.998355	P	0.36065	0.535	B	0.34722	0.188	T	0.15723	-1.0427	10	0.27082	T	0.32	.	6.4494	0.21896	0.4712:0.0:0.5288:0.0	.	64	P51508	ZNF81_HUMAN	F	64	ENSP00000366153:V64F;ENSP00000341151:V64F;ENSP00000366149:V64F	ENSP00000341151:V64F	V	+	1	0	ZNF81	47640196	0.998000	0.40836	0.696000	0.30242	0.151000	0.21798	0.498000	0.22530	-0.202000	0.10268	-0.198000	0.12761	GTT	ZNF81	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	G	NM_007137		47755252	1	no_errors	ENST00000338637	ensembl	human	known	70_37	missense	SNP	0.699	T	T	47755252	G	T	47755252	3	4	190	1	0	0	0	0	1	0	0	0	18204	1029	36	4	200	4	ZNF81	23	47755252	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	709497	47755252	107515308	120	36533										
CHM	1121	genome.wustl.edu	37	chrX	85211314	85211314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	tcattgcaattgaatgcatgAcaatatattggaggttgggg	12	4	1	2			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:85211314A>G	ENST00000357749.2	-	8	1039	c.1010T>C	c.(1009-1011)gTc>gCc	p.V337A	CHM_ENST00000537751.1_Missense_Mutation_p.V189A|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	337					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGAATGCATGACAATATATTG	0.358																																																	0													95	75	82					X																	85211314		2203	4300	6503	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1010T>C	X.37:g.85211314A>G	ENSP00000350386:p.Val337Ala		A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.V337A	ENST00000357749.2	37	c.1010	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239596	0.58995	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.87966	-2.32;-2.32	4.38	4.38	0.52667	.	0.280376	0.34853	N	0.003626	D	0.93588	0.7953	M	0.88105	2.93	0.49915	D	0.99983	P	0.48911	0.917	D	0.64595	0.927	D	0.94423	0.7642	10	0.72032	D	0.01	-9.1225	12.8489	0.57846	1.0:0.0:0.0:0.0	.	337	P24386	RAE1_HUMAN	A	337;189	ENSP00000350386:V337A;ENSP00000441728:V189A	ENSP00000350386:V337A	V	-	2	0	CHM	85097970	1.000000	0.71417	0.998000	0.56505	0.520000	0.34377	8.100000	0.89544	1.600000	0.50102	0.417000	0.27973	GTC	CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk		0.358	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	A	NM_000390		85211314	-1	no_errors	ENST00000357749	ensembl	human	known	70_37	missense	SNP	1.000	G	G	85211314	A	G	85211314	3	3	190	1	0	0	0	0	1	0	0	0	3355	275	10	5	983	5	CHM	23	85211314	Missense_Mutation	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	37456062	85211314	70059246	121	36534										
XKRX	402415	genome.wustl.edu	37	chrX	100169463	100169463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agagtgagcgcaatggatgcAagtactggaagaaaaggagc	15	5	0	3			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:100169463A>C	ENST00000372956.2	-	3	1818	c.1214T>G	c.(1213-1215)tTg>tGg	p.L405W	XKRX_ENST00000328526.5_Missense_Mutation_p.L418W|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	405						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CAATGGATGCAAGTACTGGAA	0.458																																																	0													187	154	165					X																	100169463		2203	4300	6503	SO:0001583	missense	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1214T>G	X.37:g.100169463A>C	ENSP00000362047:p.Leu405Trp		B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.L418W	ENST00000372956.2	37	c.1253	CCDS14476.2	X	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620252	0.66787	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.70749	-0.51;-0.51	5.74	5.74	0.90152	.	0.121518	0.56097	D	0.000023	T	0.81322	0.4798	L	0.56769	1.78	0.46499	D	0.999071	D	0.89917	1.0	D	0.81914	0.995	T	0.81837	-0.0749	10	0.49607	T	0.09	-10.2362	14.9852	0.71342	1.0:0.0:0.0:0.0	.	405	Q6PP77	XKR2_HUMAN	W	418;405	ENSP00000327570:L418W;ENSP00000362047:L405W	ENSP00000327570:L418W	L	-	2	0	XKRX	100056119	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.652000	0.46682	1.921000	0.55644	0.437000	0.28790	TTG	XKRX	-	pfam_Transport_prot_XK		0.458	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	HGNC	protein_coding	OTTHUMT00000057501.3	A	NM_212559		100169463	-1	no_errors	ENST00000328526	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100169463	A	C	100169463	3	2	190	1	0	0	0	0	1	0	0	0	17470	131	5	5	139	5	XKRX	23	100169463	Missense_Mutation	SNP	A	TCGA-R2-A69V-01A-11D-A32I-09	14958149	100169463	55101097	122	36535										
RBMX2	51634	genome.wustl.edu	37	chrX	129543342	129543342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	agcacaattctggccgtcgaCaattttaatgggatcaaggt	10	8	2	0			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:129543342C>T	ENST00000305536.6	+	4	349	c.285C>T	c.(283-285)gaC>gaT	p.D95D	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	95	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TGGCCGTCGACAATTTTAATG	0.443																																																	0													114	112	112					X																	129543342		1869	4096	5965	SO:0001819	synonymous_variant	51634			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.285C>T	X.37:g.129543342C>T			A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D95	ENST00000305536.6	37	c.285	CCDS43993.1	X																																																																																			RBMX2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.443	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	C	NM_016024		129543342	1	no_errors	ENST00000305536	ensembl	human	known	70_37	silent	SNP	1.000	T	T	129543342	C	T	129543342	2	4	190	1	0	0	0	0	0	0	0	1	13182	477	17	4		4	RBMX2	23	129543342	Silent	SNP	C	TCGA-R2-A69V-01A-11D-A32I-09	29373879	129543342	25727218	123	36536										
L1CAM	3897	genome.wustl.edu	37	chrX	153133907	153133907	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.225806451612903	28	1.15551420068194e-08	3.23635734670933	3.95377646297495	2.6058981233244	0.464568999363026	0.711983398491145	19	ggggcccctgagtgatctgaGttgcatctgagggtaatgcg	16	8	2	4			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:153133907G>C	ENST00000370060.1	-	14	1742	c.1553C>G	c.(1552-1554)aCt>aGt	p.T518S	L1CAM_ENST00000361699.4_Missense_Mutation_p.T518S|L1CAM_ENST00000538883.1_Missense_Mutation_p.T520S|L1CAM_ENST00000370057.3_Missense_Mutation_p.T518S|L1CAM_ENST00000370055.1_Missense_Mutation_p.T513S|L1CAM_ENST00000543994.1_Missense_Mutation_p.T520S|L1CAM_ENST00000361981.3_Missense_Mutation_p.T513S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	518	Ig-like C2-type 6.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATCTGAGTTGCATCTGA	0.607																																																	0													106	111	109					X																	153133907		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1553C>G	X.37:g.153133907G>C	ENSP00000359077:p.Thr518Ser		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T520S	ENST00000370060.1	37	c.1559	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709009	0.68615	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	D	0.88142	0.6357	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.988;0.997	D	0.89487	0.3754	10	0.87932	D	0	.	15.9807	0.80108	0.0:0.0:1.0:0.0	.	513;518;518	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	S	518;520;518;520;513;513;518	ENSP00000359077:T518S;ENSP00000438430:T520S;ENSP00000359074:T518S;ENSP00000439645:T520S;ENSP00000354712:T513S;ENSP00000359072:T513S;ENSP00000355380:T518S	ENSP00000355380:T518S	T	-	2	0	L1CAM	152787101	1.000000	0.71417	0.996000	0.52242	0.396000	0.30629	7.392000	0.79840	2.374000	0.81015	0.529000	0.55759	ACT	L1CAM	-	pfscan_Ig-like		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153133907	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	missense	SNP	0.998	C	C	153133907	G	C	153133907	3	2	190	1	0	0	0	0	1	0	0	0	8608	1029	36	4	2284	4	L1CAM	23	153133907	Missense_Mutation	SNP	G	TCGA-R2-A69V-01A-11D-A32I-09	23590565	153133907	2136653	124	36537										
DIRAS3	9077	genome.wustl.edu	37	chr1	68512899	68512899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cttcctgtggggcttgaaggCgcggaggataagcagggcgg	19	8	0	1	rs35600387	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:68512899C>T	ENST00000370981.1	-	4	718	c.82G>A	c.(82-84)Gcc>Acc	p.A28T	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.A28T|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	28					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTTGAAGGCGCGGAGGATA	0.607																																																	0													40	45	44					1																	68512899		2203	4300	6503	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.82G>A	1.37:g.68512899C>T	ENSP00000360020:p.Ala28Thr		B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A28T	ENST00000370981.1	37	c.82	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	C	9.861	1.196320	0.22037	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.72725	-0.68;-0.68	3.98	-5.12	0.02893	.	.	.	.	.	T	0.12689	0.0308	N	0.12182	0.205	0.09310	N	1	B	0.29612	0.251	B	0.12837	0.008	T	0.14839	-1.0458	9	0.05959	T	0.93	.	0.3808	0.00395	0.2749:0.3044:0.1355:0.2852	.	28	O95661	DIRA3_HUMAN	T	28	ENSP00000360020:A28T;ENSP00000378627:A28T	ENSP00000360020:A28T	A	-	1	0	DIRAS3	68285487	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.388000	0.02533	-0.841000	0.04200	-0.253000	0.11424	GCC	DIRAS3	-	NULL		0.607	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2	C	NM_004675		68512899	-1	no_errors	ENST00000370981	ensembl	human	known	70_37	missense	SNP	0.000	T	T	68512899	C	T	68512899	3	4	191	1	0	0	0	0	1	0	0	0	4542	768	27	2	611	2	DIRAS3	1	68512899	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		68512899	180737722	1	36538										
NTNG1	22854	genome.wustl.edu	37	chr1	107866903	107866903	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tcttttgttcttcttccataGggcaatccctacatgtgcaa	6	11	3	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:107866903G>T	ENST00000370068.1	+	3	1092		c.e3-1		NTNG1_ENST00000370073.2_Splice_Site|NTNG1_ENST00000370061.3_Splice_Site|NTNG1_ENST00000370070.2_Splice_Site|NTNG1_ENST00000542803.1_Splice_Site|NTNG1_ENST00000477948.1_Splice_Site|NTNG1_ENST00000370066.1_Splice_Site|NTNG1_ENST00000370071.2_Splice_Site|NTNG1_ENST00000370072.3_Splice_Site|NTNG1_ENST00000370065.1_Splice_Site|NTNG1_ENST00000370074.4_Splice_Site|NTNG1_ENST00000370067.1_Splice_Site			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTCTTCCATAGGGCAATCCCT	0.453																																																	0													251	256	254					1																	107866903		2203	4300	6503	SO:0001630	splice_region_variant	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.247-1G>T	1.37:g.107866903G>T			Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Splice_Site	SNP	-	e2-1	ENST00000370068.1	37	c.247-1	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998040	0.74818	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5413	0.95275	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTNG1	107668426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.624000	0.88883	0.655000	0.94253	.	NTNG1	-	-		0.453	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	G	NM_014917	Intron	107866903	1	no_errors	ENST00000370068	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	107866903	G	T	107866903	5	4	191	1	0	0	0	0	0	0	1	0	10728	1014	35	4	252	4	NTNG1	1	107866903	Splice_Site	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	39354004	107866903	141383718	2	36539										
UBAP2L	9898	genome.wustl.edu	37	chr1	154223747	154223747	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cctctagccctcagccggctCagcagaaactgaaacagcag	9	15	3	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:154223747C>T	ENST00000361546.2	+	12	1486	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.Q482*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.Q493*|UBAP2L_ENST00000428931.1_Nonsense_Mutation_p.Q482*			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	482			Q -> H (in dbSNP:rs17849745).		binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAGCCGGCTCAGCAGAAACT	0.498																																																	0													62	67	65					1																	154223747		2203	4300	6503	SO:0001587	stop_gained	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1444C>T	1.37:g.154223747C>T	ENSP00000355343:p.Gln482*		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Nonsense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q482*	ENST00000361546.2	37	c.1444	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.015258	0.97205	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-6.3027	18.891	0.92403	0.0:1.0:0.0:0.0	.	.	.	.	X	482;482;493;482	.	ENSP00000271877:Q493X	Q	+	1	0	UBAP2L	152490371	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.062000	0.76706	2.941000	0.99782	0.655000	0.94253	CAG	UBAP2L	-	NULL		0.498	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154223747	1	no_errors	ENST00000361546	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	154223747	C	T	154223747	4	4	191	1	0	0	0	0	0	1	0	0	16869	827	29	1	1490	1	UBAP2L	1	154223747	Nonsense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	46356844	154223747	95026874	3	36540										
PTPRC	5788	genome.wustl.edu	37	chr1	198713197	198713197	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ttgtaggcccagtacatcttGatccatcaggctttggtgga	11	9	2	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:198713197G>T	ENST00000367376.2	+	26	2877	c.2706G>T	c.(2704-2706)ttG>ttT	p.L902F	PTPRC_ENST00000352140.3_Missense_Mutation_p.L854F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L741F|PTPRC_ENST00000442510.2_Missense_Mutation_p.L904F|PTPRC_ENST00000348564.6_Missense_Mutation_p.L743F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	902	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGTACATCTTGATCCATCAGG	0.343																																																	0													113	109	110					1																	198713197		2202	4300	6502	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2706G>T	1.37:g.198713197G>T	ENSP00000356346:p.Leu902Phe		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L904F	ENST00000367376.2	37	c.2712		1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069105	0.55539	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.07800	3.16	5.8	5.8	0.92144	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.361502	0.19372	N	0.115896	T	0.07413	0.0187	N	0.00855	-1.145	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79784	0.987;0.987;0.993	T	0.58880	-0.7558	10	0.26408	T	0.33	.	11.4151	0.49947	0.0:0.1261:0.7274:0.1465	.	743;854;902	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	F	904;854;902;741	ENSP00000193532:L854F	ENSP00000306782:L741F	L	+	3	2	PTPRC	196979820	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.359000	0.44142	2.733000	0.93635	0.650000	0.86243	TTG	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.343	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		G			198713197	1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	1.000	T	T	198713197	G	T	198713197	3	4	191	1	0	0	0	0	1	0	0	0	12827	1281	45	3	2815	3	PTPRC	1	198713197	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	44489450	198713197	50537424	4	36541										
LYST	1130	genome.wustl.edu	37	chr1	235952024	235952024	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	aagataagagtggcattgtgGggatcagcccacacttggat	13	7	1	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:235952024G>T	ENST00000389794.3	-	13	4839	c.4665C>A	c.(4663-4665)ccC>ccA	p.P1555P	LYST_ENST00000389793.2_Silent_p.P1555P|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1555					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGCATTGTGGGGATCAGCCC	0.368																																																	0													98	84	89					1																	235952024		2203	4300	6503	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4665C>A	1.37:g.235952024G>T			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1555	ENST00000389794.3	37	c.4665	CCDS31062.1	1																																																																																			LYST	-	superfamily_ARM-type_fold		0.368	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235952024	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	silent	SNP	0.191	T	T	235952024	G	T	235952024	2	4	191	1	0	0	0	0	0	0	0	1	9151	1219	43	4		4	LYST	1	235952024	Silent	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	37238827	235952024	13298597	5	36542										
RYR2	6262	genome.wustl.edu	37	chr1	237819136	237819136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cccagaaatatgaacaagaaCttttcaaactggcactgcct	6	11	1	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr1:237819136C>T	ENST00000366574.2	+	53	8298	c.7981C>T	c.(7981-7983)Ctt>Ttt	p.L2661F	RYR2_ENST00000542537.1_Missense_Mutation_p.L2645F|RYR2_ENST00000360064.6_Missense_Mutation_p.L2659F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2661	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAACAAGAACTTTTCAAACT	0.418																																																	0													33	32	32					1																	237819136		1820	4083	5903	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7981C>T	1.37:g.237819136C>T	ENSP00000355533:p.Leu2661Phe		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L2659F	ENST00000366574.2	37	c.7975	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330566	0.81690	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95622	-3.76;-3.76;-3.76	5.65	4.72	0.59763	.	0.000000	0.50627	D	0.000101	D	0.97666	0.9235	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.97915	1.0311	10	0.87932	D	0	-12.0582	15.5106	0.75779	0.0:0.9303:0.0:0.0697	.	2661	Q92736	RYR2_HUMAN	F	2661;2659;2645	ENSP00000355533:L2661F;ENSP00000353174:L2659F;ENSP00000443798:L2645F	ENSP00000353174:L2659F	L	+	1	0	RYR2	235885759	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.253000	0.51469	2.826000	0.97356	0.563000	0.77884	CTT	RYR2	-	NULL		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237819136	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T	T	237819136	C	T	237819136	3	4	191	1	0	0	0	0	1	0	0	0	13799	565	20	4	8191	4	RYR2	1	237819136	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	1867112	237819136	11431485	6	36543										
SLC30A3	7781	genome.wustl.edu	37	chr2	27485720	27485720	+	Frame_Shift_Del	DEL	G	G	-													0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tccggcgccaccgcggtcccGggggctcaccaggcgagtgg					rs149400133		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:27485720delG	ENST00000233535.4	-	1	407	c.55delC	c.(55-57)cggfs	p.R19fs	SLC30A3_ENST00000447008.2_Intron	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	19					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCGGTCCCGGGGGCTCACC	0.711																																																	0													13	16	15					2																	27485720		2182	4272	6454	SO:0001589	frameshift_variant	7781			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.55delC	2.37:g.27485720delG	ENSP00000233535:p.Arg19fs		Q8TC03	Frame_Shift_Del	DEL	pfam_Cation_efflux,tigrfam_Cation_efflux	p.R19fs	ENST00000233535.4	37	c.55	CCDS1743.1	2																																																																																			SLC30A3	-	NULL		0.711	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2	G			27485720	-1	no_errors	ENST00000233535	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	27485720	G	-	27485720	7	5	191	1	0	1	0	1	0	0	0	0	14586	1115	39	0	1143	0	SLC30A3	2	27485720	Frame_Shift_Del	DEL	G	TCGA-RA-A741-01A-11D-A33O-09		27485720	215713653	7	36544										
B3GALT1	8708	genome.wustl.edu	37	chr2	168725978	168725978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ttccatgatatcatcgtggaGgactttattgactcctacca	7	10	1	2	rs369947361		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:168725978G>T	ENST00000392690.3	+	1	521	c.429G>T	c.(427-429)gaG>gaT	p.E143D	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.E143D			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	143					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCATCGTGGAGGACTTTATTG	0.443																																																	0													91	84	86					2																	168725978		2203	4300	6503	SO:0001583	missense	8708			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"Beta 3-glycosyltransferases"	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.429G>T	2.37:g.168725978G>T	ENSP00000376456:p.Glu143Asp		D3DPB8|Q53SS2	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.E143D	ENST00000392690.3	37	c.429	CCDS2227.1	2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278138	0.59758	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.42131	0.98;0.98	6.17	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.76328	2.33	0.54753	D	0.99998	D	0.54772	0.968	P	0.57283	0.817	T	0.52426	-0.8577	10	0.15499	T	0.54	-23.5576	9.3513	0.38140	0.3187:0.0:0.6813:0.0	.	143	Q9Y5Z6	B3GT1_HUMAN	D	143	ENSP00000303740:E143D;ENSP00000376456:E143D	ENSP00000303740:E143D	E	+	3	2	B3GALT1	168434224	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.084000	0.41625	0.952000	0.37798	0.655000	0.94253	GAG	B3GALT1	-	pfam_Glyco_trans_31		0.443	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT1	HGNC	protein_coding	OTTHUMT00000255211.2	G	NM_020981		168725978	1	no_errors	ENST00000305861	ensembl	human	known	70_37	missense	SNP	1.000	T	T	168725978	G	T	168725978	3	4	191	1	0	0	0	0	1	0	0	0	1248	991	35	4	431	4	B3GALT1	2	168725978	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	141240258	168725978	74473395	8	36545										
TTN	7273	genome.wustl.edu	37	chr2	179441279	179441279	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ctgcatctttcatcagaacaGaatctgaagcctcactgggt	8	11	5	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:179441279G>T	ENST00000591111.1	-	275	64993	c.64769C>A	c.(64768-64770)tCt>tAt	p.S21590Y	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14291Y|TTN_ENST00000460472.2_Missense_Mutation_p.S14166Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S20663Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S23231Y|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14358Y			Q8WZ42	TITIN_HUMAN	titin	21590	Fibronectin type-III 56. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAGAACAGAATCTGAAGC	0.423																																																	0													135	132	133					2																	179441279		1928	4133	6061	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64769C>A	2.37:g.179441279G>T	ENSP00000465570:p.Ser21590Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S20663Y	ENST00000591111.1	37	c.61988		2	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506686	0.26949	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.72	2.73	0.32206	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43523	0.1251	L	0.58510	1.815	0.23519	N	0.997506	B;B;B;B	0.15473	0.0;0.0;0.0;0.013	B;B;B;B	0.17979	0.0;0.0;0.0;0.02	T	0.42413	-0.9453	9	0.87932	D	0	.	8.1949	0.31389	0.1452:0.0:0.7297:0.1251	.	14166;14291;14358;21590	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	20663;14166;14358;14291;14164	ENSP00000343764:S20663Y;ENSP00000434586:S14166Y;ENSP00000340554:S14358Y;ENSP00000352154:S14291Y	ENSP00000340554:S14358Y	S	-	2	0	TTN	179149525	1.000000	0.71417	0.972000	0.41901	0.839000	0.47603	2.707000	0.47143	0.338000	0.23692	0.655000	0.94253	TCT	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179441279	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179441279	G	T	179441279	3	4	191	1	0	0	0	0	1	0	0	0	16766	942	33	3	38439	3	TTN	2	179441279	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	10715301	179441279	63758094	9	36546										
TNS1	7145	genome.wustl.edu	37	chr2	218750487	218750487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	caagatgtctcccttcaagaGcagtcctggctcgatggtga	11	11	2	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:218750487G>T	ENST00000171887.4	-	13	1173	c.721C>A	c.(721-723)Ctc>Atc	p.L241I	TNS1_ENST00000430930.1_Missense_Mutation_p.L241I|TNS1_ENST00000310858.6_Missense_Mutation_p.L272I|TNS1_ENST00000419504.1_Missense_Mutation_p.L241I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	241	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCTTCAAGAGCAGTCCTGGC	0.532																																																	0													155	134	141					2																	218750487		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.721C>A	2.37:g.218750487G>T	ENSP00000171887:p.Leu241Ile		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L241I	ENST00000171887.4	37	c.721	CCDS2407.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.39|18.39	3.613326|3.613326	0.66672|0.66672	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.85258	.|-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	4.77|4.77	3.89|3.89	0.44902|0.44902	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.88209|0.88209	0.6375|0.6375	L|L	0.46741|0.46741	1.465|1.465	0.51482|0.51482	D|D	0.999922|0.999922	.|D;B;D;D;D;D	.|0.76494	.|0.999;0.382;0.999;0.999;0.999;0.999	.|D;P;D;D;D;D	.|0.91635	.|0.963;0.53;0.994;0.999;0.994;0.998	D|D	0.87699|0.87699	0.2559|0.2559	5|10	.|0.62326	.|D	.|0.03	.|.	9.3491|9.3491	0.38126|0.38126	0.1663:0.0:0.8337:0.0|0.1663:0.0:0.8337:0.0	.|.	.|241;295;272;241;241;241	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	D|I	16|241;241;241;366;309;272	.|ENSP00000171887:L241I;ENSP00000408724:L241I;ENSP00000406016:L241I;ENSP00000405460:L366I;ENSP00000400383:L309I;ENSP00000308321:L272I	.|ENSP00000171887:L241I	A|L	-|-	2|1	0|0	TNS1|TNS1	218458732|218458732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	6.461000|6.461000	0.73522|0.73522	1.218000|1.218000	0.43458|0.43458	0.462000|0.462000	0.41574|0.41574	GCT|CTC	TNS1	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom		0.532	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	G	NM_022648		218750487	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	missense	SNP	1.000	T	T	218750487	G	T	218750487	3	4	191	1	0	0	0	0	1	0	0	0	16373	971	34	4	4570	4	TNS1	2	218750487	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	39309208	218750487	24448886	10	36547										
DNPEP	23549	genome.wustl.edu	37	chr2	220246294	220246294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	aataaaggccggtggttctcCtcatgcttgtccctgtaaga	10	10	2	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr2:220246294C>A	ENST00000273075.4	-	12	1330	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	DNPEP_ENST00000523282.1_Missense_Mutation_p.E378D|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Missense_Mutation_p.E295D	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	360					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGTTCTCCTCATGCTTGT	0.552																																																	0													160	169	166					2																	220246294		2032	4175	6207	SO:0001583	missense	23549				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1110G>T	2.37:g.220246294C>A	ENSP00000273075:p.Glu370Asp		Q9BW44|Q9NUV5	Missense_Mutation	SNP	pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18	p.E370D	ENST00000273075.4	37	c.1110	CCDS42823.1	2	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424503	0.43020	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056	.	.	.	4.85	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	N	0.25332	0.735	0.58432	D	0.999999	B;B;B;B	0.32382	0.105;0.214;0.316;0.368	B;B;B;B	0.32211	0.081;0.13;0.142;0.127	T	0.20075	-1.0286	9	0.56958	D	0.05	-24.5828	1.1442	0.01772	0.1486:0.4189:0.1646:0.2678	.	378;378;360;370	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	D	370;370;295;378;263	.	ENSP00000273075:E370D	E	-	3	2	DNPEP	219954538	0.997000	0.39634	1.000000	0.80357	0.960000	0.62799	0.431000	0.21444	0.737000	0.32582	0.561000	0.74099	GAG	DNPEP	-	pfam_Peptidase_M18,pfam_Peptidase_M42		0.552	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNPEP	HGNC	protein_coding	OTTHUMT00000130212.1	C	NM_012100		220246294	-1	no_errors	ENST00000273075	ensembl	human	known	70_37	missense	SNP	1.000	A	A	220246294	C	A	220246294	3	1	191	1	0	0	0	0	1	0	0	0	4689	680	24	4	363	4	DNPEP	2	220246294	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	1495807	220246294	22953079	11	36548										
FGD5	152273	genome.wustl.edu	37	chr3	14861277	14861277	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gcaggggcagatgagggttcGggtcctgacaggcccacgga	18	10	0	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:14861277G>T	ENST00000285046.5	+	1	809	c.699G>T	c.(697-699)tcG>tcT	p.S233S	FGD5_ENST00000543601.1_5'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	233	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ATGAGGGTTCGGGTCCTGACA	0.662																																																	0													13	18	16					3																	14861277		2057	4194	6251	SO:0001819	synonymous_variant	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.699G>T	3.37:g.14861277G>T			B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.S233	ENST00000285046.5	37	c.699	CCDS46767.1	3																																																																																			FGD5	-	NULL		0.662	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	G	NM_152536		14861277	1	no_errors	ENST00000285046	ensembl	human	known	70_37	silent	SNP	0.000	T	T	14861277	G	T	14861277	2	4	191	1	0	0	0	0	0	0	0	1	5854	1103	39	2		2	FGD5	3	14861277	Silent	SNP	G	TCGA-RA-A741-01A-11D-A33O-09		14861277	183161153	12	36549										
ENTPD3	956	genome.wustl.edu	37	chr3	40457472	40457472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gcgacatcatgcaggtgtccCtgtatggctacgtatacacg	11	11	1	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:40457472C>A	ENST00000301825.3	+	7	857	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.L247M|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.L247M	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	247					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GCAGGTGTCCCTGTATGGCTA	0.532																																																	0													109	89	96					3																	40457472		2203	4300	6503	SO:0001583	missense	956			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.739C>A	3.37:g.40457472C>A	ENSP00000301825:p.Leu247Met		B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.L247M	ENST00000301825.3	37	c.739	CCDS2691.1	3	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737914	0.69304	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.14022	2.54;2.54;2.54	5.38	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.87827	2.91	0.48511	D	0.999667	D	0.89917	1.0	D	0.97110	1.0	T	0.13656	-1.0501	10	0.54805	T	0.06	-13.514	8.3142	0.32091	0.0:0.7489:0.0:0.2511	.	247	O75355	ENTP3_HUMAN	M	247	ENSP00000301825:L247M;ENSP00000401565:L247M;ENSP00000404671:L247M	ENSP00000301825:L247M	L	+	1	2	ENTPD3	40432476	0.963000	0.33076	0.989000	0.46669	0.948000	0.59901	2.158000	0.42329	0.715000	0.32103	0.655000	0.94253	CTG	ENTPD3	-	pfam_GDA1_CD39_NTPase		0.532	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD3	HGNC	protein_coding	OTTHUMT00000254179.2	C	NM_001248		40457472	1	no_errors	ENST00000301825	ensembl	human	known	70_37	missense	SNP	0.999	A	A	40457472	C	A	40457472	3	1	191	1	0	0	0	0	1	0	0	0	5152	680	24	4	761	4	ENTPD3	3	40457472	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	25596195	40457472	157564958	13	36550										
ROBO2	6092	genome.wustl.edu	37	chr3	77147203	77147203	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	aggactttcccccgcggattGtggagcatccttccgatgtc	11	13	0	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:77147203G>T	ENST00000461745.1	+	2	1000	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	ROBO2_ENST00000332191.8_Missense_Mutation_p.V34L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V50L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	34	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCGCGGATTGTGGAGCATCC	0.527																																																	0													47	49	49					3																	77147203		1945	4136	6081	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.100G>T	3.37:g.77147203G>T	ENSP00000417164:p.Val34Leu		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V34L	ENST00000461745.1	37	c.100	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346768	0.61073	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.38077	1.16;1.16;1.16	5.12	5.12	0.69794	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34879	U	0.003614	T	0.29716	0.0742	N	0.17922	0.545	0.27574	N	0.94981	B;B;B	0.28933	0.065;0.228;0.065	B;B;B	0.32980	0.116;0.156;0.148	T	0.24154	-1.0168	9	0.32370	T	0.25	.	18.541	0.91027	0.0:0.0:1.0:0.0	.	50;34;34	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	50;50;50;34;34	ENSP00000417335:V50L;ENSP00000417164:V34L;ENSP00000327536:V34L	ENSP00000327536:V34L	V	+	1	0	ROBO2	77229893	1.000000	0.71417	0.996000	0.52242	0.150000	0.21749	8.023000	0.88764	2.360000	0.80028	0.655000	0.94253	GTG	ROBO2	-	pfam_Ig_I-set,pfscan_Ig-like		0.527	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	G	XM_031246		77147203	1	no_errors	ENST00000461745	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77147203	G	T	77147203	3	4	191	1	0	0	0	0	1	0	0	0	13544	1377	48	4	108	4	ROBO2	3	77147203	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	36689731	77147203	120875227	14	36551										
CEP70	80321	genome.wustl.edu	37	chr3	138256028	138256028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tagcaaaattactgtctatcCaagacggtatgaggaactct	8	8	2	2	rs143351944		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr3:138256028C>A	ENST00000264982.3	-	7	893	c.627G>T	c.(625-627)ttG>ttT	p.L209F	CEP70_ENST00000542237.1_Missense_Mutation_p.L189F|CEP70_ENST00000489254.1_Missense_Mutation_p.L57F|CEP70_ENST00000464035.1_Missense_Mutation_p.L209F|CEP70_ENST00000481834.1_Missense_Mutation_p.L209F|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.L209F	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	209					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.L209F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						ACTGTCTATCCAAGACGGTAT	0.353																																																	1	Substitution - Missense(1)	skin(1)											152	133	140					3																	138256028		2203	4300	6503	SO:0001583	missense	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.627G>T	3.37:g.138256028C>A	ENSP00000264982:p.Leu209Phe		B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L209F	ENST00000264982.3	37	c.627	CCDS3102.1	3	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552575	0.65425	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035	T;T;T;T;T;T;T;T;T	0.58797	1.29;1.3;0.71;1.29;1.3;1.28;0.69;0.68;0.31	4.57	4.57	0.56435	.	0.509985	0.19497	N	0.112829	T	0.69860	0.3158	M	0.62723	1.935	0.39124	D	0.961711	D;D;D;D	0.76494	0.982;0.996;0.999;0.996	P;D;D;D	0.70016	0.802;0.931;0.967;0.931	T	0.67554	-0.5641	10	0.27082	T	0.32	-5.3217	12.7248	0.57164	0.0:1.0:0.0:0.0	.	57;189;209;209	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	F	209;189;57;209;191;209;188;189;209	ENSP00000264982:L209F;ENSP00000444128:L189F;ENSP00000417821:L57F;ENSP00000419231:L209F;ENSP00000419833:L191F;ENSP00000417465:L209F;ENSP00000418131:L188F;ENSP00000417819:L189F;ENSP00000419743:L209F	ENSP00000264982:L209F	L	-	3	2	CEP70	139738718	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.621000	0.36986	2.370000	0.80446	0.655000	0.94253	TTG	CEP70	-	NULL		0.353	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	C	NM_024491		138256028	-1	no_errors	ENST00000264982	ensembl	human	known	70_37	missense	SNP	1.000	A	A	138256028	C	A	138256028	3	1	191	1	0	0	0	0	1	0	0	0	3264	593	21	4	1214	4	CEP70	3	138256028	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	61108825	138256028	59766402	15	36552										
ZFYVE28	57732	genome.wustl.edu	37	chr4	2306606	2306606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cccacctcccagccgtccagGtgcagccgcgagtccaggca	11	19	0	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:2306606G>T	ENST00000290974.2	-	8	1800	c.1461C>A	c.(1459-1461)caC>caA	p.H487Q	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.H457Q|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.H417Q|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	487					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						AGCCGTCCAGGTGCAGCCGCG	0.652																																																	0													38	39	39					4																	2306606		2119	4156	6275	SO:0001583	missense	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1461C>A	4.37:g.2306606G>T	ENSP00000290974:p.His487Gln		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.H487Q	ENST00000290974.2	37	c.1461	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	G	9.404	1.078707	0.20227	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.57595	0.4;0.39;0.4	4.07	0.158	0.14942	.	0.559137	0.19214	N	0.119847	T	0.38746	0.1052	L	0.51422	1.61	0.80722	D	1	B;B	0.30281	0.001;0.275	B;B	0.25884	0.004;0.064	T	0.11743	-1.0575	10	0.59425	D	0.04	.	4.7724	0.13162	0.0798:0.1287:0.5791:0.2125	.	457;487	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	Q	487;457;417	ENSP00000290974:H487Q;ENSP00000425706:H457Q;ENSP00000426299:H417Q	ENSP00000290974:H487Q	H	-	3	2	ZFYVE28	2276404	1.000000	0.71417	0.107000	0.21349	0.085000	0.17905	3.034000	0.49751	-0.213000	0.10094	-0.490000	0.04691	CAC	ZFYVE28	-	NULL		0.652	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	G	XM_035371		2306606	-1	no_errors	ENST00000290974	ensembl	human	known	70_37	missense	SNP	0.994	T	T	2306606	G	T	2306606	3	4	191	1	0	0	0	0	1	0	0	0	17700	1252	44	4	1226	4	ZFYVE28	4	2306606	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09		2306606	188847670	16	36553										
PROM1	8842	genome.wustl.edu	37	chr4	15995625	15995625	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	attacctcattaatgttgagAtgttcactgatattgaagct	7	6	2	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:15995625A>T	ENST00000510224.1	-	16	2000	c.1752T>A	c.(1750-1752)caT>caA	p.H584Q	PROM1_ENST00000505450.1_Missense_Mutation_p.H575Q|PROM1_ENST00000447510.2_Missense_Mutation_p.H584Q|PROM1_ENST00000539194.1_Missense_Mutation_p.H584Q|PROM1_ENST00000540805.1_Missense_Mutation_p.H584Q|PROM1_ENST00000508167.1_Missense_Mutation_p.H575Q|PROM1_ENST00000543373.1_Missense_Mutation_p.H575Q			O43490	PROM1_HUMAN	prominin 1	584					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TAATGTTGAGATGTTCACTGA	0.388																																																	0													226	223	224					4																	15995625		1909	4131	6040	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1752T>A	4.37:g.15995625A>T	ENSP00000426809:p.His584Gln		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	pfam_Prominin	p.H584Q	ENST00000510224.1	37	c.1752	CCDS47029.1	4	.	.	.	.	.	.	.	.	.	.	A	7.823	0.718097	0.15372	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.98	-6.9	0.01655	.	0.775970	0.13248	N	0.402337	T	0.21509	0.0518	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.001;0.001;0.002	B;B;B;B;B;B	0.11329	0.004;0.004;0.004;0.004;0.002;0.006	T	0.13361	-1.0512	10	0.28530	T	0.3	-24.0257	12.2269	0.54465	0.2846:0.6107:0.0:0.1046	.	575;584;575;584;575;584	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	Q	584;584;584;575;575;584;575	ENSP00000415481:H584Q;ENSP00000438045:H584Q;ENSP00000443620:H584Q;ENSP00000426090:H575Q;ENSP00000427346:H575Q;ENSP00000426809:H584Q;ENSP00000445526:H575Q	ENSP00000415481:H584Q	H	-	3	2	PROM1	15604723	0.102000	0.21896	0.001000	0.08648	0.001000	0.01503	0.467000	0.22035	-1.299000	0.02344	-1.523000	0.00931	CAT	PROM1	-	pfam_Prominin		0.388	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	A	NM_006017		15995625	-1	no_errors	ENST00000447510	ensembl	human	known	70_37	missense	SNP	0.018	T	T	15995625	A	T	15995625	3	4	191	1	0	0	0	0	1	0	0	0	12582	330	12	5	893	5	PROM1	4	15995625	Missense_Mutation	SNP	A	TCGA-RA-A741-01A-11D-A33O-09	13689019	15995625	175158651	17	36554										
ODAM	54959	genome.wustl.edu	37	chr4	71063753	71063753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	agctctagaccagtttgctgGactgctcccaaatcagatac	8	12	2	2	rs376525673		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:71063753G>T	ENST00000396094.2	+	4	302	c.254G>T	c.(253-255)gGa>gTa	p.G85V		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	85	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAGTTTGCTGGACTGCTCCCA	0.502																																																	0													192	190	190					4																	71063753		1889	4117	6006	SO:0001583	missense	54959			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.254G>T	4.37:g.71063753G>T	ENSP00000379401:p.Gly85Val		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	NULL	p.G85V	ENST00000396094.2	37	c.254	CCDS3536.2	4	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362483	0.24684	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.51817	0.69;0.69	4.79	3.94	0.45596	.	.	.	.	.	T	0.57829	0.2080	L	0.55481	1.735	0.09310	N	0.999996	D	0.61080	0.989	P	0.61722	0.893	T	0.46816	-0.9164	9	0.66056	D	0.02	-7.7334	8.5601	0.33505	0.1045:0.0:0.8955:0.0	.	85	A1E959	ODAM_HUMAN	V	85;71;38	ENSP00000379401:G85V;ENSP00000426106:G38V	ENSP00000379401:G85V	G	+	2	0	ODAM	71098342	0.018000	0.18449	0.014000	0.15608	0.011000	0.07611	1.900000	0.39828	1.235000	0.43724	0.561000	0.74099	GGA	ODAM	-	NULL		0.502	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1	G	NM_017855		71063753	1	no_errors	ENST00000396094	ensembl	human	known	70_37	missense	SNP	0.019	T	T	71063753	G	T	71063753	3	4	191	1	0	0	0	0	1	0	0	0	10848	1174	41	3	268	3	ODAM	4	71063753	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	55068128	71063753	120090523	18	36555										
UGT8	7368	genome.wustl.edu	37	chr4	115544657	115544657	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ctcatttccagattaggggtCagctttctggttcttcccaa	8	11	4	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:115544657C>A	ENST00000310836.6	+	2	1143	c.621C>A	c.(619-621)gtC>gtA	p.V207V	UGT8_ENST00000394511.3_Silent_p.V207V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	207					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GATTAGGGGTCAGCTTTCTGG	0.453																																																	0													106	104	105					4																	115544657		2203	4300	6503	SO:0001819	synonymous_variant	7368			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.621C>A	4.37:g.115544657C>A			B3KXU7|O00196	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V207	ENST00000310836.6	37	c.621	CCDS3705.1	4																																																																																			UGT8	-	pfam_UDP_glucos_trans		0.453	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	C	NM_003360		115544657	1	no_errors	ENST00000310836	ensembl	human	known	70_37	silent	SNP	1.000	A	A	115544657	C	A	115544657	2	1	191	1	0	0	0	0	0	0	0	1	16996	813	29	3		3	UGT8	4	115544657	Silent	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	44480904	115544657	75609619	19	36556										
PRDM5	11107	genome.wustl.edu	37	chr4	121702439	121702439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	aaggtagcatcgcagtgatgGcacttgaaagtcctctcacc	10	11	1	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr4:121702439G>A	ENST00000264808.3	-	12	1542	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	PRDM5_ENST00000428209.2_Silent_p.C403C|PRDM5_ENST00000515109.1_Silent_p.C403C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	434					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGCAGTGATGGCACTTGAAAG	0.393																																																	0													94	77	83					4																	121702439		2203	4300	6503	SO:0001819	synonymous_variant	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1302C>T	4.37:g.121702439G>A			Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.C434	ENST00000264808.3	37	c.1302	CCDS3716.1	4																																																																																			PRDM5	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2		0.393	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2	G			121702439	-1	no_errors	ENST00000264808	ensembl	human	known	70_37	silent	SNP	0.993	A	A	121702439	G	A	121702439	2	1	191	1	0	0	0	0	0	0	0	1	12487	1195	42	4		4	PRDM5	4	121702439	Silent	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	6157782	121702439	69451837	20	36557										
SNX18	112574	genome.wustl.edu	37	chr5	53815271	53815271	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	accaggctatcgccttcaccGgagatgcctatgacgccatt	9	14	1	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:53815271G>T	ENST00000326277.3	+	1	1679	c.1489G>T	c.(1489-1491)Gga>Tga	p.G497*	SNX18_ENST00000381410.4_Nonsense_Mutation_p.G497*|SNX18_ENST00000343017.6_Nonsense_Mutation_p.G497*	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	497	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CGCCTTCACCGGAGATGCCTA	0.627																																																	0													59	58	58					5																	53815271		2203	4300	6503	SO:0001587	stop_gained	112574			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1489G>T	5.37:g.53815271G>T	ENSP00000317332:p.Gly497*		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Nonsense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.G497*	ENST00000326277.3	37	c.1489	CCDS3962.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.120323	0.98665	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	.	.	.	5.24	5.24	0.73138	.	0.127061	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.6731	19.0331	0.92965	0.0:0.0:1.0:0.0	.	.	.	.	X	497	.	ENSP00000317332:G497X	G	+	1	0	SNX18	53851028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.648000	0.98483	2.724000	0.93272	0.561000	0.74099	GGA	SNX18	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9		0.627	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	G			53815271	1	no_errors	ENST00000326277	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	53815271	G	T	53815271	4	4	191	1	0	0	0	0	0	1	0	0	14919	1117	39	2	1491	2	SNX18	5	53815271	Nonsense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09		53815271	127099989	21	36558										
EDIL3	10085	genome.wustl.edu	37	chr5	83239278	83239278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ccagcagctctgaccgcaatGtgatcctcccgtaccaggac	9	16	1	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:83239278G>T	ENST00000296591.5	-	11	1821	c.1403C>A	c.(1402-1404)aCa>aAa	p.T468K	EDIL3_ENST00000380138.3_Missense_Mutation_p.T458K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	468	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGACCGCAATGTGATCCTCCC	0.478																																																	0													143	131	136					5																	83239278		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1403C>A	5.37:g.83239278G>T	ENSP00000296591:p.Thr468Lys		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T468K	ENST00000296591.5	37	c.1403	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398275	0.83120	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98345	-4.88;-4.88	5.52	5.52	0.82312	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.977;0.997	D	0.99474	1.0946	10	0.87932	D	0	-16.1119	19.448	0.94855	0.0:0.0:1.0:0.0	.	458;468	O43854-2;O43854	.;EDIL3_HUMAN	K	468;458	ENSP00000296591:T468K;ENSP00000369483:T458K	ENSP00000296591:T468K	T	-	2	0	EDIL3	83275034	1.000000	0.71417	0.967000	0.41034	0.821000	0.46438	9.357000	0.97099	2.617000	0.88574	0.655000	0.94253	ACA	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.478	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	G	NM_005711		83239278	-1	no_errors	ENST00000296591	ensembl	human	known	70_37	missense	SNP	1.000	T	T	83239278	G	T	83239278	3	4	191	1	0	0	0	0	1	0	0	0	4925	1377	48	4	43	4	EDIL3	5	83239278	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	29424007	83239278	97675982	22	36559										
ZNF300	91975	genome.wustl.edu	37	chr5	150277689	150277689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	atatgtctccctttatgatcCatggctcttctccttgttcc	5	13	3	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:150277689C>A	ENST00000274599.5	-	5	620	c.200G>T	c.(199-201)tGg>tTg	p.W67L	ZNF300_ENST00000427179.1_Missense_Mutation_p.W67L|ZNF300_ENST00000394226.2_Missense_Mutation_p.W67L|ZNF300_ENST00000418587.2_Missense_Mutation_p.W31L|ZNF300_ENST00000446148.2_Missense_Mutation_p.W83L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTATGATCCATGGCTCTTC	0.373																																																	0													168	149	156					5																	150277689		2203	4300	6503	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.200G>T	5.37:g.150277689C>A	ENSP00000274599:p.Trp67Leu		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W83L	ENST00000274599.5	37	c.248	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689322	0.48097	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.48201	0.82;0.82;2.64;0.82;0.82	3.49	3.49	0.39957	Krueppel-associated box (2);	.	.	.	.	T	0.66626	0.2808	M	0.74647	2.275	0.30269	N	0.79244	D	0.63880	0.993	D	0.70227	0.968	T	0.65944	-0.6045	9	0.72032	D	0.01	.	12.8944	0.58091	0.0:1.0:0.0:0.0	.	67	Q96RE9	ZN300_HUMAN	L	83;67;31;67;67	ENSP00000397178:W83L;ENSP00000274599:W67L;ENSP00000392593:W31L;ENSP00000414195:W67L;ENSP00000377773:W67L	ENSP00000274599:W67L	W	-	2	0	ZNF300	150257882	0.882000	0.30256	1.000000	0.80357	0.917000	0.54804	0.612000	0.24283	1.967000	0.57214	0.563000	0.77884	TGG	ZNF300	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.373	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		C	NM_052860		150277689	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150277689	C	A	150277689	3	1	191	1	0	0	0	0	1	0	0	0	17861	595	21	4	1622	4	ZNF300	5	150277689	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	67038411	150277689	30637571	23	36560										
C1QTNF2	114898	genome.wustl.edu	37	chr5	159776635	159776635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggcctgggaggcctggctccCccttcttgcccttgggcccc	13	18	1	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr5:159776635C>A	ENST00000393975.3	-	3	536	c.533G>T	c.(532-534)gGg>gTg	p.G178V		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	133	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTGGCTCCCCCTTCTTGCC	0.692																																																	0													97	107	103					5																	159776635		2203	4300	6503	SO:0001583	missense	114898			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.533G>T	5.37:g.159776635C>A	ENSP00000377545:p.Gly178Val			Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G178V	ENST00000393975.3	37	c.533	CCDS4351.2	5	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760692	0.69763	.	.	ENSG00000145861	ENST00000393975	D	0.99637	-6.29	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.99834	0.9925	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96742	0.9547	10	0.87932	D	0	.	19.206	0.93730	0.0:1.0:0.0:0.0	.	133	Q9BXJ5	C1QT2_HUMAN	V	178	ENSP00000377545:G178V	ENSP00000377545:G178V	G	-	2	0	C1QTNF2	159709213	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.653000	0.90120	0.491000	0.48974	GGG	C1QTNF2	-	pfam_Collagen		0.692	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2	C			159776635	-1	no_errors	ENST00000393975	ensembl	human	known	70_37	missense	SNP	1.000	A	A	159776635	C	A	159776635	3	1	191	1	0	0	0	0	1	0	0	0	1968	623	22	4	463	4	C1QTNF2	5	159776635	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	9498946	159776635	21138625	24	36561										
DPCR1	135656	genome.wustl.edu	37	chr6	30916512	30916512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	aacgccactgcaacaccacaCgccattctaagccaactgac	5	17	1	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:30916512C>T	ENST00000462446.1	+	2	299	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	91						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAACACCACACGCCATTCTAA	0.443																																																	0													84	69	73					6																	30916512		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.271C>T	6.37:g.30916512C>T	ENSP00000417182:p.Arg91Cys		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.R91C	ENST00000462446.1	37	c.271	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201402	0.38905	.	.	ENSG00000168631	ENST00000462446;ENST00000450344	T	0.44083	0.93	3.36	1.46	0.22682	.	.	.	.	.	T	0.25232	0.0613	N	0.24115	0.695	0.09310	N	0.999998	D	0.89917	1.0	D	0.64877	0.93	T	0.04635	-1.0937	9	0.72032	D	0.01	1.5527	3.6416	0.08169	0.2459:0.6205:0.0:0.1336	.	91	E9PEI6	.	C	91	ENSP00000417182:R91C	ENSP00000411741:R91C	R	+	1	0	DPCR1	31024491	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	0.457000	0.21875	0.376000	0.24707	0.491000	0.48974	CGC	DPCR1	-	NULL		0.443	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30916512	1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.005	T	T	30916512	C	T	30916512	3	4	191	1	0	0	0	0	1	0	0	0	4722	536	19	2	277	2	DPCR1	6	30916512	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		30916512	140198555	25	36562										
ZNF76	7629	genome.wustl.edu	37	chr6	35259070	35259070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gacaggctatggactgaagaGccacgttcgtacccacactg	11	12	0	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:35259070G>T	ENST00000373953.3	+	8	907	c.641G>T	c.(640-642)aGc>aTc	p.S214I	ZNF76_ENST00000440666.2_Missense_Mutation_p.S188I|ZNF76_ENST00000339411.5_Missense_Mutation_p.S214I	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	214					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGACTGAAGAGCCACGTTCGT	0.577																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												0													71	50	57					6																	35259070		2203	4300	6503	SO:0001583	missense	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.641G>T	6.37:g.35259070G>T	ENSP00000363064:p.Ser214Ile		Q9BQB2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S214I	ENST00000373953.3	37	c.641	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233981	0.79688	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.18174	3.14;2.23;2.23;2.23	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000092	T	0.12050	0.0293	N	0.05012	-0.13	0.50632	D	0.999887	D;D;D	0.64830	0.994;0.964;0.994	D;P;D	0.65233	0.933;0.682;0.925	T	0.28138	-1.0053	10	0.39692	T	0.17	.	14.9211	0.70838	0.0:0.1434:0.8566:0.0	.	214;214;214	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	I	214;214;214;214;188;214	ENSP00000419106:S214I;ENSP00000363064:S214I;ENSP00000392243:S188I;ENSP00000344097:S214I	ENSP00000344097:S214I	S	+	2	0	ZNF76	35367048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.732000	0.84908	2.706000	0.92434	0.563000	0.77884	AGC	ZNF76	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.577	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	G	NM_003427		35259070	1	no_errors	ENST00000373953	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35259070	G	T	35259070	3	4	191	1	0	0	0	0	1	0	0	0	18165	971	34	4	667	4	ZNF76	6	35259070	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	4342558	35259070	135855997	26	36563										
MRPL14	64928	genome.wustl.edu	37	chr6	44081737	44081737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cgaatctgggggtcattcggGggccaggcatgcagtgcccc	16	12	2	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:44081737G>T	ENST00000372014.3	-	3	412	c.281C>A	c.(280-282)cCc>cAc	p.P94H		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	94					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			GGTCATTCGGGGGCCAGGCAT	0.557																																																	0													117	121	120					6																	44081737		2203	4300	6503	SO:0001583	missense	64928			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"Mitochondrial ribosomal proteins / large subunits"	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.281C>A	6.37:g.44081737G>T	ENSP00000361084:p.Pro94His		B2R575|Q96Q72	Missense_Mutation	SNP	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	p.P94H	ENST00000372014.3	37	c.281	CCDS34460.1	6	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402851	0.42613	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.69	5.69	0.88448	Ribosomal protein L14 domain (2);	0.416516	0.26341	N	0.024928	T	0.31009	0.0783	N	0.25144	0.715	0.09310	N	0.999999	P	0.42941	0.794	P	0.50791	0.65	T	0.21999	-1.0229	9	0.40728	T	0.16	-9.9202	18.8032	0.92027	0.0:0.0:1.0:0.0	.	94	Q6P1L8	RM14_HUMAN	H	94	.	ENSP00000361084:P94H	P	-	2	0	MRPL14	44189715	1.000000	0.71417	0.448000	0.26945	0.411000	0.31082	5.009000	0.63998	2.681000	0.91329	0.561000	0.74099	CCC	MRPL14	-	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom		0.557	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL14	HGNC	protein_coding	OTTHUMT00000040707.1	G	NM_032111		44081737	-1	no_errors	ENST00000372014	ensembl	human	known	70_37	missense	SNP	0.182	T	T	44081737	G	T	44081737	3	4	191	1	0	0	0	0	1	0	0	0	9802	1232	43	4	160	4	MRPL14	6	44081737	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	8822667	44081737	127033330	27	36564										
SNAP91	9892	genome.wustl.edu	37	chr6	84270627	84270627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tccaaccgatggggccccggCaacaggaggaactgaactgg	14	12	0	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:84270627C>T	ENST00000439399.2	-	27	2798	c.2482G>A	c.(2482-2484)Gcc>Acc	p.A828T	SNAP91_ENST00000520213.1_Missense_Mutation_p.A521T|SNAP91_ENST00000521485.1_Missense_Mutation_p.A823T|SNAP91_ENST00000520302.1_Missense_Mutation_p.A798T|SNAP91_ENST00000521743.1_Missense_Mutation_p.A828T|SNAP91_ENST00000195649.6_Missense_Mutation_p.A823T|SNAP91_ENST00000428679.2_Missense_Mutation_p.A828T|SNAP91_ENST00000369694.2_Missense_Mutation_p.A828T|SNAP91_ENST00000437520.1_Missense_Mutation_p.A521T	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	828	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGGGCCCCGGCAACAGGAGGA	0.428																																																	0													44	44	44					6																	84270627		1943	4149	6092	SO:0001583	missense	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2482G>A	6.37:g.84270627C>T	ENSP00000400459:p.Ala828Thr		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.A828T	ENST00000439399.2	37	c.2482	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	2.482	-0.319444	0.05386	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.25085	2.36;2.36;2.36;2.36;2.39;2.39;2.37;2.36;2.39;1.82	5.46	0.507	0.16967	.	0.569167	0.19433	N	0.114369	T	0.09202	0.0227	N	0.25890	0.77	0.09310	N	1	B;D;B;B;B	0.56968	0.001;0.978;0.0;0.0;0.0	B;P;B;B;B	0.53722	0.001;0.733;0.002;0.001;0.001	T	0.08932	-1.0698	10	0.39692	T	0.17	-2.3691	2.5176	0.04672	0.1183:0.4484:0.2303:0.2031	.	704;521;798;828;826	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	T	823;828;828;823;828;521;798;828;521;169	ENSP00000429776:A823T;ENSP00000358708:A828T;ENSP00000400459:A828T;ENSP00000195649:A823T;ENSP00000412492:A828T;ENSP00000413277:A521T;ENSP00000428511:A798T;ENSP00000428215:A828T;ENSP00000428026:A521T;ENSP00000430255:A169T	ENSP00000195649:A823T	A	-	1	0	SNAP91	84327346	0.129000	0.22400	0.150000	0.22450	0.039000	0.13416	0.655000	0.24933	0.001000	0.14605	-1.293000	0.01348	GCC	SNAP91	-	NULL		0.428	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	C			84270627	-1	no_errors	ENST00000369694	ensembl	human	known	70_37	missense	SNP	0.037	T	T	84270627	C	T	84270627	3	4	191	1	0	0	0	0	1	0	0	0	14863	710	25	4	253	4	SNAP91	6	84270627	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	40188890	84270627	86844440	28	36565										
GPRC6A	222545	genome.wustl.edu	37	chr6	117128267	117128267	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	accagatttctgaatcaggtGagccattgctttaatttgat	8	7	2	4			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr6:117128267G>T	ENST00000310357.3	-	3	622	c.601C>A	c.(601-603)Cac>Aac	p.H201N	GPRC6A_ENST00000530250.1_Missense_Mutation_p.H201N|GPRC6A_ENST00000368549.3_Missense_Mutation_p.H201N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	201					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGAATCAGGTGAGCCATTGCT	0.413																																																	0													175	180	178					6																	117128267		2203	4299	6502	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.601C>A	6.37:g.117128267G>T	ENSP00000309493:p.His201Asn		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.H201N	ENST00000310357.3	37	c.601	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032421	0.35893	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.82167	-1.58;-1.58;-1.58	5.65	5.65	0.86999	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000019	T	0.64416	0.2596	L	0.39085	1.19	0.21184	N	0.999761	P;P;B	0.43662	0.814;0.774;0.404	B;B;B	0.36922	0.21;0.236;0.167	T	0.63585	-0.6604	10	0.38643	T	0.18	.	14.7174	0.69280	0.0:0.0:0.8554:0.1446	.	201;201;201	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	N	201	ENSP00000309493:H201N;ENSP00000357537:H201N;ENSP00000433465:H201N	ENSP00000309493:H201N	H	-	1	0	GPRC6A	117234960	0.632000	0.27172	1.000000	0.80357	0.947000	0.59692	1.706000	0.37878	2.941000	0.99782	0.655000	0.94253	CAC	GPRC6A	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.413	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	G			117128267	-1	no_errors	ENST00000310357	ensembl	human	known	70_37	missense	SNP	0.880	T	T	117128267	G	T	117128267	3	4	191	1	0	0	0	0	1	0	0	0	6748	1290	45	3	2195	3	GPRC6A	6	117128267	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	32857640	117128267	53986800	29	36566										
SNX8	29886	genome.wustl.edu	37	chr7	2317747	2317747	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ccagttacctggctggaaacCtcatactccacatgcttcag	7	14	2	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:2317747C>A	ENST00000222990.3	-	2	330	c.288G>T	c.(286-288)gaG>gaT	p.E96D		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	96	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GGCTGGAAACCTCATACTCCA	0.582																																																	0													95	85	89					7																	2317747		2203	4300	6503	SO:0001583	missense	29886			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.288G>T	7.37:g.2317747C>A	ENSP00000222990:p.Glu96Asp		A4D207|Q96I67	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E96D	ENST00000222990.3	37	c.288	CCDS5331.1	7	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708416	0.48517	.	.	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286;ENST00000435336;ENST00000447136	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.16	2.99	0.34606	Phox homologous domain (5);	0.125508	0.53938	D	0.000045	T	0.47322	0.1439	M	0.79011	2.435	0.40166	D	0.977128	P	0.42010	0.768	P	0.45538	0.484	T	0.48007	-0.9072	10	0.30854	T	0.27	.	10.3959	0.44201	0.0:0.7026:0.0:0.2974	.	96	Q9Y5X2	SNX8_HUMAN	D	96;82;43;43;43	ENSP00000222990:E96D;ENSP00000392437:E82D;ENSP00000406954:E43D;ENSP00000406212:E43D;ENSP00000403608:E43D	ENSP00000222990:E96D	E	-	3	2	SNX8	2284273	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.778000	0.38614	1.163000	0.42636	0.655000	0.94253	GAG	SNX8	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.582	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX8	HGNC	protein_coding	OTTHUMT00000322949.2	C			2317747	-1	no_errors	ENST00000222990	ensembl	human	known	70_37	missense	SNP	1.000	A	A	2317747	C	A	2317747	3	1	191	1	0	0	0	0	1	0	0	0	14938	680	24	4	1149	4	SNX8	7	2317747	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		2317747	156820916	30	36567										
CDK13	8621	genome.wustl.edu	37	chr7	40134004	40134004	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ccaaaagagaaggtgggattGattatcaagcaggagacact	12	6	1	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:40134004G>A	ENST00000181839.4	+	14	4569	c.3964G>A	c.(3964-3966)Gat>Aat	p.D1322N	CDK13_ENST00000340829.5_Missense_Mutation_p.D1262N	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1322					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGGTGGGATTGATTATCAAGC	0.478																																																	0													144	140	142					7																	40134004		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3964G>A	7.37:g.40134004G>A	ENSP00000181839:p.Asp1322Asn		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D1322N	ENST00000181839.4	37	c.3964	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686071	0.68157	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.45276	0.9;0.9	5.2	5.2	0.72013	.	.	.	.	.	T	0.51975	0.1706	L	0.40543	1.245	0.46241	D	0.99894	D;D	0.61080	0.965;0.989	P;P	0.57846	0.655;0.828	T	0.44406	-0.9330	8	.	.	.	-6.938	18.7486	0.91804	0.0:0.0:1.0:0.0	.	1262;1322	Q14004-2;Q14004	.;CDK13_HUMAN	N	1322;1262	ENSP00000181839:D1322N;ENSP00000340557:D1262N	.	D	+	1	0	CDK13	40100529	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.047000	0.89440	2.439000	0.82584	0.591000	0.81541	GAT	CDK13	-	NULL		0.478	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	G	NM_003718		40134004	1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	0.999	A	A	40134004	G	A	40134004	3	1	191	1	0	0	0	0	1	0	0	0	3134	1290	45	1	4018	1	CDK13	7	40134004	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	37816257	40134004	119004659	31	36568										
HECW1	23072	genome.wustl.edu	37	chr7	43484164	43484164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tggccgagcagctggacctgGgtgaggaggcatcagcactg	17	10	1	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:43484164G>T	ENST00000395891.2	+	11	1998	c.1393G>T	c.(1393-1395)Ggt>Tgt	p.G465C	HECW1_ENST00000453890.1_Missense_Mutation_p.G465C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	465	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTGGACCTGGGTGAGGAGGC	0.657																																																	0													15	18	17					7																	43484164		2095	4220	6315	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1393G>T	7.37:g.43484164G>T	ENSP00000379228:p.Gly465Cys		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G465C	ENST00000395891.2	37	c.1393	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758205	0.31137	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.31247	1.5;1.5	5.27	3.3	0.37823	.	4.801260	0.00166	N	0.000003	T	0.19565	0.0470	N	0.08118	0	0.09310	N	0.999998	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.15838	-1.0423	10	0.56958	D	0.05	.	5.6554	0.17640	0.074:0.1411:0.6385:0.1465	.	465;465	B4DH42;Q76N89	.;HECW1_HUMAN	C	465	ENSP00000379228:G465C;ENSP00000407774:G465C	ENSP00000265522:G465C	G	+	1	0	HECW1	43450689	1.000000	0.71417	0.685000	0.30070	0.637000	0.38172	2.771000	0.47670	1.320000	0.45209	0.561000	0.74099	GGT	HECW1	-	NULL		0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43484164	1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	0.053	T	T	43484164	G	T	43484164	3	4	191	1	0	0	0	0	1	0	0	0	7062	1232	43	4	1427	4	HECW1	7	43484164	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	3350160	43484164	115654499	32	36569										
GTF2IRD1	9569	genome.wustl.edu	37	chr7	73927291	73927291	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gagctacagtcagacttcctCaggttctgccgtgagtaccc	10	13	3	2	rs377354300		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:73927291C>A	ENST00000265755.3	+	3	648	c.255C>A	c.(253-255)ctC>ctA	p.L85L	GTF2IRD1_ENST00000476977.1_Silent_p.L85L|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.L85L|GTF2IRD1_ENST00000455841.2_Silent_p.L85L	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	85					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGACTTCCTCAGGTTCTGCC	0.637																																																	0													82	70	74					7																	73927291		2203	4300	6503	SO:0001819	synonymous_variant	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.255C>A	7.37:g.73927291C>A			O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L85	ENST00000265755.3	37	c.255	CCDS5571.1	7																																																																																			GTF2IRD1	-	pirsf_TF_II-I		0.637	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	C	NM_016328		73927291	1	no_errors	ENST00000265755	ensembl	human	known	70_37	silent	SNP	1.000	A	A	73927291	C	A	73927291	2	1	191	1	0	0	0	0	0	0	0	1	6888	813	29	3		3	GTF2IRD1	7	73927291	Silent	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	30443127	73927291	85211372	33	36570										
GATAD1	57798	genome.wustl.edu	37	chr7	92083840	92083840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tatattaccaaattggtgatGttgtttctgtgattgatgaa	9	3	1	4	rs554905494		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:92083840G>T	ENST00000287957.3	+	4	737	c.460G>T	c.(460-462)Gtt>Ttt	p.V154F		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	154						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATTGGTGATGTTGTTTCTGT	0.393																																																	0													208	200	203					7																	92083840		2203	4300	6503	SO:0001583	missense	57798				CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"GATA zinc finger domain containing"	29941	protein-coding gene	gene with protein product	"ocular development associated gene"	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.460G>T	7.37:g.92083840G>T	ENSP00000287957:p.Val154Phe		B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.V154F	ENST00000287957.3	37	c.460	CCDS5625.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.285657	0.95517	.	.	ENSG00000157259	ENST00000287957	D	0.88431	-2.38	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	L	0.59436	1.845	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	D	0.92670	0.6149	10	0.87932	D	0	-27.1202	20.3811	0.98930	0.0:0.0:1.0:0.0	.	154	Q8WUU5	GATD1_HUMAN	F	154	ENSP00000287957:V154F	ENSP00000287957:V154F	V	+	1	0	GATAD1	91921776	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.598000	0.98277	2.821000	0.97095	0.650000	0.86243	GTT	GATAD1	-	NULL		0.393	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATAD1	HGNC	protein_coding	OTTHUMT00000253929.2	G	NM_021167		92083840	1	no_errors	ENST00000287957	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92083840	G	T	92083840	3	4	191	1	0	0	0	0	1	0	0	0	6278	1377	48	4	474	4	GATAD1	7	92083840	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	18156549	92083840	67054823	34	36571										
HEPACAM2	253012	genome.wustl.edu	37	chr7	92825163	92825163	+	Frame_Shift_Del	DEL	G	G	-													0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tggaaacaccagaaacatctGgaaaagcaacaaattcatat							TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:92825163delG	ENST00000394468.2	-	8	1330	c.1253delC	c.(1252-1254)ccafs	p.P418fs	HEPACAM2_ENST00000440868.1_Frame_Shift_Del_p.Q398fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Del_p.P441fs|HEPACAM2_ENST00000341723.4_Frame_Shift_Del_p.P406fs|HEPACAM2_ENST00000492616.1_5'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	418					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGAAACATCTGGAAAAGCAAC	0.393																																																	0													119	116	117					7																	92825163		2203	4300	6503	SO:0001589	frameshift_variant	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1253delC	7.37:g.92825163delG	ENSP00000377980:p.Pro418fs		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P418fs	ENST00000394468.2	37	c.1253	CCDS43616.1	7																																																																																			HEPACAM2	-	NULL		0.393	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM2	HGNC	protein_coding	OTTHUMT00000254651.1	G	NM_198151		92825163	-1	no_errors	ENST00000394468	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	92825163	G	-	92825163	7	5	191	1	0	1	0	1	0	0	0	0	7073	1348	47	0	147	0	HEPACAM2	7	92825163	Frame_Shift_Del	DEL	G	TCGA-RA-A741-01A-11D-A33O-09	741323	92825163	66313500	35	36572										
C7orf58	79974	genome.wustl.edu	37	chr7	120906364	120906364	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gaaacgttgcaggaatggcaGaaagtacatggcactaaatt	11	6	0	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:120906364G>T	ENST00000310396.5	+	19	2861	c.2394G>T	c.(2392-2394)caG>caT	p.Q798H		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	798						endoplasmic reticulum (GO:0005783)											AGGAATGGCAGAAAGTACATG	0.393																																																	0													212	191	198					7																	120906364		2203	4300	6503	SO:0001583	missense	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2394G>T	7.37:g.120906364G>T	ENSP00000309772:p.Gln798His		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.Q798H	ENST00000310396.5	37	c.2394	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125368	0.56721	.	.	ENSG00000106034	ENST00000310396	T	0.18960	2.18	5.94	4.14	0.48551	.	0.307523	0.34986	N	0.003529	T	0.38612	0.1047	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06285	-1.0835	10	0.49607	T	0.09	.	10.4437	0.44481	0.2592:0.0:0.7408:0.0	.	798	A4D0V7	CG058_HUMAN	H	798	ENSP00000309772:Q798H	ENSP00000309772:Q798H	Q	+	3	2	C7orf58	120693600	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	0.428000	0.21395	0.848000	0.35191	0.561000	0.74099	CAG	CPED1	-	NULL		0.393	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	G	NM_024913		120906364	1	no_errors	ENST00000310396	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120906364	G	T	120906364	3	4	191	1	0	0	0	0	1	0	0	0	2410	933	33	3	2510	3	C7orf58	7	120906364	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	28081201	120906364	38232299	36	36573										
CPA5	93979	genome.wustl.edu	37	chr7	130008431	130008431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggagcacaccctgaatcaccCctactagcagcacgactgag	9	15	1	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:130008431C>A	ENST00000485477.1	+	12	2433	c.1304C>A	c.(1303-1305)cCc>cAc	p.P435H	CPA5_ENST00000393213.3_Missense_Mutation_p.P435H|CPA5_ENST00000474905.1_Missense_Mutation_p.P435H|CPA5_ENST00000355388.3_Missense_Mutation_p.P435H|CPA5_ENST00000466363.2_Missense_Mutation_p.P435H|CPA5_ENST00000461828.1_Missense_Mutation_p.P435H|CPA5_ENST00000431780.2_3'UTR			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	435						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTGAATCACCCCTACTAGCAG	0.617																																																	0													135	108	117					7																	130008431		2203	4300	6503	SO:0001583	missense	93979			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1304C>A	7.37:g.130008431C>A	ENSP00000420237:p.Pro435His		G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.P435H	ENST00000485477.1	37	c.1304	CCDS5819.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.600906|2.600906	0.46423|0.46423	.|.	.|.	ENSG00000158525|ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213|ENST00000479492	T;T;T;T;T;T|T	0.11821|0.41065	2.74;2.74;2.74;2.74;2.74;2.74|1.01	5.85|5.85	4.97|4.97	0.65823|0.65823	.|.	0.498355|0.498355	0.20385|0.20385	N|N	0.093363|0.093363	T|T	0.50086|0.50086	0.1595|0.1595	M|M	0.72894|0.72894	2.215|2.215	0.32058|0.32058	N|N	0.596104|0.596104	D|.	0.76494|.	0.999|.	D|.	0.68039|.	0.955|.	T|T	0.61222|0.61222	-0.7106|-0.7106	9|7	.|.	.|.	.|.	.|.	7.5877|7.5877	0.28002|0.28002	0.0:0.7497:0.0:0.2503|0.0:0.7497:0.0:0.2503	.|.	435|.	Q8WXQ8|.	CBPA5_HUMAN|.	H|T	435|84	ENSP00000347549:P435H;ENSP00000418183:P435H;ENSP00000419025:P435H;ENSP00000420237:P435H;ENSP00000417314:P435H;ENSP00000376907:P435H|ENSP00000417886:P84T	.|.	P|P	+|+	2|1	0|0	CPA5|CPA5	129795667|129795667	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.058000|0.058000	0.15608|0.15608	2.725000|2.725000	0.47294|0.47294	1.467000|1.467000	0.48044|0.48044	0.655000|0.655000	0.94253|0.94253	CCC|CCT	CPA5	-	NULL		0.617	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	HGNC	protein_coding	OTTHUMT00000349712.1	C	NM_001127441		130008431	1	no_errors	ENST00000355388	ensembl	human	known	70_37	missense	SNP	1.000	A	A	130008431	C	A	130008431	3	1	191	1	0	0	0	0	1	0	0	0	3798	623	22	4	1346	4	CPA5	7	130008431	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	9102067	130008431	29130232	37	36574										
CNTNAP2	26047	genome.wustl.edu	37	chr7	146829491	146829491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	caatggtctcctggtcttcaGtcactttgcggataatttgg	10	9	4	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:146829491G>T	ENST00000361727.3	+	8	1754	c.1238G>T	c.(1237-1239)aGt>aTt	p.S413I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	413	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGGTCTTCAGTCACTTTGCG	0.488										HNSCC(39;0.1)																																							0													129	114	119					7																	146829491		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1238G>T	7.37:g.146829491G>T	ENSP00000354778:p.Ser413Ile		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S413I	ENST00000361727.3	37	c.1238	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931794	0.34096	.	.	ENSG00000174469	ENST00000361727	T	0.77620	-1.11	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.071919	0.49916	D	0.000124	T	0.75910	0.3914	M	0.75615	2.305	0.80722	D	1	B	0.21381	0.055	B	0.21708	0.036	T	0.70439	-0.4871	10	0.29301	T	0.29	.	11.8253	0.52263	0.0807:0.0:0.9193:0.0	.	413	Q9UHC6	CNTP2_HUMAN	I	413	ENSP00000354778:S413I	ENSP00000354778:S413I	S	+	2	0	CNTNAP2	146460424	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.387000	0.59626	2.686000	0.91538	0.591000	0.81541	AGT	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.488	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	G			146829491	1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	0.996	T	T	146829491	G	T	146829491	3	4	191	1	0	0	0	0	1	0	0	0	3652	1029	36	4	1268	4	CNTNAP2	7	146829491	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	16821060	146829491	12309172	38	36575										
NOS3	4846	genome.wustl.edu	37	chr7	150699020	150699020	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cagagctacgcacagcagctGgggagactcttccggaaggc	14	12	1	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr7:150699020G>T	ENST00000484524.1	+	12	1614	c.1614G>T	c.(1612-1614)ctG>ctT	p.L538L	NOS3_ENST00000297494.3_Silent_p.L538L|NOS3_ENST00000461406.1_Silent_p.L332L|NOS3_ENST00000467517.1_Silent_p.L538L	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGCAGCTGGGGAGACTCT	0.637																																																	0													38	42	41					7																	150699020		2203	4300	6503	SO:0001819	synonymous_variant	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1614G>T	7.37:g.150699020G>T			Q495E5	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L538	ENST00000484524.1	37	c.1614	CCDS55182.1	7																																																																																			NOS3	-	pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth		0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	G	NM_000603		150699020	1	no_errors	ENST00000297494	ensembl	human	known	70_37	silent	SNP	1.000	T	T	150699020	G	T	150699020	2	4	191	1	0	0	0	0	0	0	0	1	10568	1335	47	4		4	NOS3	7	150699020	Silent	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	3869529	150699020	8439643	39	36576										
PIWIL2	55124	genome.wustl.edu	37	chr8	22171928	22171928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	agctgtgctgtgtgcagtccCcagtgccctcccaggtgagt	13	13	0	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr8:22171928C>A	ENST00000454009.2	+	17	2586	c.2077C>A	c.(2077-2079)Cca>Aca	p.P693T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.P693T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.P693T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	693	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGTGCAGTCCCCAGTGCCCTC	0.557																																																	0													94	74	81					8																	22171928		2203	4300	6503	SO:0001583	missense	55124			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2077C>A	8.37:g.22171928C>A	ENSP00000406956:p.Pro693Thr		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.P693T	ENST00000454009.2	37	c.2077	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617676	0.87359	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15139	2.45;2.45;2.45	5.92	5.92	0.95590	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.098209	0.64402	D	0.000001	T	0.53997	0.1831	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.985;0.995	T	0.63708	-0.6576	10	0.62326	D	0.03	-1.3849	17.2511	0.87042	0.0:1.0:0.0:0.0	.	693;693	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	693	ENSP00000349208:P693T;ENSP00000428267:P693T;ENSP00000406956:P693T	ENSP00000349208:P693T	P	+	1	0	PIWIL2	22227873	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	6.639000	0.74314	2.822000	0.97130	0.650000	0.86243	CCA	PIWIL2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.557	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	C			22171928	1	no_errors	ENST00000356766	ensembl	human	known	70_37	missense	SNP	1.000	A	A	22171928	C	A	22171928	3	1	191	1	0	0	0	0	1	0	0	0	11982	623	22	4	2139	4	PIWIL2	8	22171928	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		22171928	124192094	40	36577										
C8orf80	389643	genome.wustl.edu	37	chr8	27884506	27884506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ctccttgtagaggccatcccCctgggacgaagcaagggcca	12	14	0	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr8:27884506C>A	ENST00000413272.2	-	18	2360	c.2218G>T	c.(2218-2220)Ggg>Tgg	p.G740W	NUGGC_ENST00000341513.6_Missense_Mutation_p.G740W	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	740					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AGGCCATCCCCCTGGGACGAA	0.517																																																	0													163	162	162					8																	27884506		1977	4157	6134	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2218G>T	8.37:g.27884506C>A	ENSP00000408697:p.Gly740Trp		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.G740W	ENST00000413272.2	37	c.2218	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979947	0.34942	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.14893	2.47;2.48	5.8	3.0	0.34707	.	0.270394	0.29145	N	0.013014	T	0.17408	0.0418	N	0.24115	0.695	0.29121	N	0.880228	D	0.63880	0.993	P	0.55923	0.787	T	0.02491	-1.1151	10	0.87932	D	0	-21.6161	5.5202	0.16927	0.1749:0.6842:0.0:0.1409	.	740	Q68CJ6	SLIP_HUMAN	W	740	ENSP00000408697:G740W;ENSP00000345031:G740W	ENSP00000345031:G740W	G	-	1	0	C8orf80	27940425	0.606000	0.26949	0.893000	0.35052	0.761000	0.43186	1.248000	0.32827	1.441000	0.47550	0.655000	0.94253	GGG	NUGGC	-	NULL		0.517	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27884506	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	0.642	A	A	27884506	C	A	27884506	3	1	191	1	0	0	0	0	1	0	0	0	2444	623	22	4	180	4	C8orf80	8	27884506	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	5712578	27884506	118479516	41	36578										
KIAA1797	54914	genome.wustl.edu	37	chr9	20929595	20929595	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cttgtgtgaagagaaactcaGgtacagtttattaaaatatt	8	4	1	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr9:20929595G>T	ENST00000380249.1	+	29	3681	c.3317G>T	c.(3316-3318)aGt>aTt	p.S1106I	FOCAD_ENST00000605086.1_Splice_Site_p.S542I|FOCAD_ENST00000338382.6_Splice_Site_p.S1106I	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1106						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GAGAAACTCAGGTACAGTTTA	0.393																																																	0													94	85	88					9																	20929595		2203	4300	6503	SO:0001630	splice_region_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3317+1G>T	9.37:g.20929595G>T			D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.S1106I	ENST00000380249.1	37	c.3317	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468049	0.84533	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.67698	-0.28;-0.28	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82697	-0.0329	10	0.87932	D	0	-0.5121	20.6243	0.99512	0.0:0.0:1.0:0.0	.	1106	Q5VW36	K1797_HUMAN	I	1106	ENSP00000369599:S1106I;ENSP00000344307:S1106I	ENSP00000344307:S1106I	S	+	2	0	KIAA1797	20919595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.180000	0.77674	2.879000	0.98667	0.650000	0.86243	AGT	FOCAD	-	superfamily_ARM-type_fold		0.393	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	G	NM_017794	Missense_Mutation	20929595	1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	1.000	T	T	20929595	G	T	20929595	5	4	191	1	0	0	0	0	0	0	1	0	8278	1014	35	4	3419	4	KIAA1797	9	20929595	Splice_Site	SNP	G	TCGA-RA-A741-01A-11D-A33O-09		20929595	120283836	42	36579										
FGD3	89846	genome.wustl.edu	37	chr9	95797815	95797815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ctgcccatggggacacggccCaggacagcccgggggccctg	16	16	0	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr9:95797815C>A	ENST00000375482.3	+	18	2618	c.2122C>A	c.(2122-2124)Cag>Aag	p.Q708K	FGD3_ENST00000416701.2_Missense_Mutation_p.Q707K|FGD3_ENST00000538555.1_Missense_Mutation_p.Q311K|FGD3_ENST00000337352.6_Missense_Mutation_p.Q708K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	708					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGACACGGCCCAGGACAGCCC	0.662																																																	0													28	34	32					9																	95797815		2083	4198	6281	SO:0001583	missense	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.2122C>A	9.37:g.95797815C>A	ENSP00000364631:p.Gln708Lys		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.Q708K	ENST00000375482.3	37	c.2122	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	C	1.309	-0.602586	0.03744	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.71341	-0.45;-0.45;-0.45;-0.56	4.25	1.66	0.24008	.	2.002420	0.02684	N	0.109929	T	0.49304	0.1549	N	0.14661	0.345	0.09310	N	1	B;B	0.22480	0.07;0.029	B;B	0.21151	0.033;0.008	T	0.39781	-0.9597	10	0.07644	T	0.81	.	3.3085	0.07009	0.0:0.501:0.2466:0.2524	.	707;708	F8W7P2;Q5JSP0	.;FGD3_HUMAN	K	708;707;708;311	ENSP00000364631:Q708K;ENSP00000413833:Q707K;ENSP00000336914:Q708K;ENSP00000442560:Q311K	ENSP00000336914:Q708K	Q	+	1	0	FGD3	94837636	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.280000	0.18790	0.450000	0.26774	0.561000	0.74099	CAG	FGD3	-	NULL		0.662	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	C	NM_033086		95797815	1	no_errors	ENST00000337352	ensembl	human	known	70_37	missense	SNP	0.000	A	A	95797815	C	A	95797815	3	1	191	1	0	0	0	0	1	0	0	0	5852	595	21	4	2184	4	FGD3	9	95797815	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	74868220	95797815	45415616	43	36580										
ZNF169	169841	genome.wustl.edu	37	chr9	97062730	97062730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tgtgtgcagggaatgtgggcGacacttcaggtatacatcct	13	8	1	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr9:97062730G>A	ENST00000395395.2	+	5	980	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GAATGTGGGCGACACTTCAGG	0.562																																																	0													93	93	93					9																	97062730		2203	4300	6503	SO:0001583	missense	169841			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.890G>A	9.37:g.97062730G>A	ENSP00000378792:p.Arg297Gln		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R297Q	ENST00000395395.2	37	c.890	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025567	0.35701	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.35973	1.28	2.83	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25344	0.0616	N	0.25286	0.73	0.25308	N	0.989229	P	0.44578	0.838	B	0.43103	0.408	T	0.08911	-1.0699	9	0.66056	D	0.02	.	5.8165	0.18495	0.1451:0.0:0.8549:0.0	.	297	Q14929	ZN169_HUMAN	Q	297;106	ENSP00000378792:R297Q	ENSP00000340711:R106Q	R	+	2	0	ZNF169	96102551	0.031000	0.19500	0.148000	0.22405	0.413000	0.31143	0.428000	0.21395	1.910000	0.55303	0.603000	0.83216	CGA	ZNF169	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1	G	NM_194320		97062730	1	no_errors	ENST00000395395	ensembl	human	known	70_37	missense	SNP	0.030	A	A	97062730	G	A	97062730	3	1	191	1	0	0	0	0	1	0	0	0	17772	1058	37	1	904	1	ZNF169	9	97062730	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	1264915	97062730	44150701	44	36581										
RABGAP1	23637	genome.wustl.edu	37	chr9	125860125	125860125	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tggaagaagagtctgctcagGtaagggaactctcccacatt	11	9	3	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr9:125860125G>T	ENST00000373647.4	+	22	2867		c.e22+1		RABGAP1_ENST00000373643.5_Splice_Site	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTCTGCTCAGGTAAGGGAACT	0.478																																																	0													91	88	89					9																	125860125		2203	4300	6503	SO:0001630	splice_region_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2733+1G>T	9.37:g.125860125G>T			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Splice_Site	SNP	-	e21+1	ENST00000373647.4	37	c.2733+1	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132243	0.77662	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8179	0.92085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGAP1	124899946	1.000000	0.71417	0.997000	0.53966	0.732000	0.41865	9.506000	0.97992	2.687000	0.91594	0.561000	0.74099	.	RABGAP1	-	-		0.478	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	G	NM_012197	Intron	125860125	1	no_errors	ENST00000373647	ensembl	human	known	70_37	splice_site	SNP	1.000	T	T	125860125	G	T	125860125	5	4	191	1	0	0	0	0	0	0	1	0	12994	1275	44	4	2816	4	RABGAP1	9	125860125	Splice_Site	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	28797395	125860125	15353306	45	36582										
ARID5B	84159	genome.wustl.edu	37	chr10	63852202	63852202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggaagatggaaggcatggtcCacccaatcctgcaccggaaa	12	11	0	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:63852202C>A	ENST00000279873.7	+	10	3390	c.2980C>A	c.(2980-2982)Cac>Aac	p.H994N	ARID5B_ENST00000309334.5_Missense_Mutation_p.H751N	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	994					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGCATGGTCCACCCAATCCT	0.522																																																	0													71	78	75					10																	63852202		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2980C>A	10.37:g.63852202C>A	ENSP00000279873:p.His994Asn		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.H994N	ENST00000279873.7	37	c.2980	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216132	0.79352	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.45276	0.91;0.9	5.72	5.72	0.89469	.	0.213712	0.48767	D	0.000170	T	0.54078	0.1836	M	0.69823	2.125	0.58432	D	0.999992	P	0.52842	0.956	P	0.47528	0.549	T	0.59392	-0.7463	10	0.72032	D	0.01	-21.2046	19.8646	0.96799	0.0:1.0:0.0:0.0	.	994	Q14865	ARI5B_HUMAN	N	994;751	ENSP00000279873:H994N;ENSP00000308862:H751N	ENSP00000279873:H994N	H	+	1	0	ARID5B	63522208	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.356000	0.59430	2.702000	0.92279	0.655000	0.94253	CAC	ARID5B	-	NULL		0.522	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	C	XM_084482		63852202	1	no_errors	ENST00000279873	ensembl	human	known	70_37	missense	SNP	1.000	A	A	63852202	C	A	63852202	3	1	191	1	0	0	0	0	1	0	0	0	922	594	21	4	3018	4	ARID5B	10	63852202	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		63852202	71682545	46	36583										
PDE6C	5146	genome.wustl.edu	37	chr10	95400710	95400710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	agaagtactacacagatctcGaagcctttgccatgcttgct	8	11	1	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:95400710G>A	ENST00000371447.3	+	14	1909	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	591					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CACAGATCTCGAAGCCTTTGC	0.348																																																	0													138	121	127					10																	95400710		2203	4300	6503	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1771G>A	10.37:g.95400710G>A	ENSP00000360502:p.Glu591Lys		A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E591K	ENST00000371447.3	37	c.1771	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815093	0.90790	.	.	ENSG00000095464	ENST00000371447	D	0.84223	-1.82	5.2	5.2	0.72013	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043921	0.85682	D	0.000000	D	0.93930	0.8057	H	0.94345	3.525	0.80722	D	1	D	0.67145	0.996	P	0.59825	0.864	D	0.95322	0.8421	10	0.87932	D	0	.	18.9274	0.92550	0.0:0.0:1.0:0.0	.	591	P51160	PDE6C_HUMAN	K	591	ENSP00000360502:E591K	ENSP00000360502:E591K	E	+	1	0	PDE6C	95390700	1.000000	0.71417	0.977000	0.42913	0.486000	0.33341	9.134000	0.94467	2.709000	0.92574	0.563000	0.77884	GAA	PDE6C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.348	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	G	NM_006204		95400710	1	no_errors	ENST00000371447	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95400710	G	A	95400710	3	1	191	1	0	0	0	0	1	0	0	0	11671	1059	37	1	1825	1	PDE6C	10	95400710	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	31548508	95400710	40134037	47	36584										
WNT8B	7479	genome.wustl.edu	37	chr10	102222993	102222993	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cctccaactcagccacagctGgtaagtaacctggactctta	7	14	2	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:102222993G>T	ENST00000343737.5	+	1	196	c.68G>T	c.(67-69)tGg>tTg	p.W23L		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	23					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AGCCACAGCTGGTAAGTAACC	0.423																																																	0													108	103	105					10																	102222993		2203	4300	6503	SO:0001630	splice_region_variant	7479			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.68+1G>T	10.37:g.102222993G>T			O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.W23L	ENST00000343737.5	37	c.68	CCDS7494.1	10	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602154	0.66445	.	.	ENSG00000075290	ENST00000343737	T	0.72615	-0.67	5.95	5.95	0.96441	.	0.136507	0.53938	D	0.000057	T	0.71443	0.3340	M	0.79805	2.47	0.58432	D	0.999992	B	0.06786	0.001	B	0.17722	0.019	T	0.69075	-0.5241	10	0.02654	T	1	.	19.9669	0.97274	0.0:0.0:1.0:0.0	.	23	Q93098	WNT8B_HUMAN	L	23	ENSP00000340677:W23L	ENSP00000340677:W23L	W	+	2	0	WNT8B	102212983	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.271000	0.78506	2.826000	0.97356	0.491000	0.48974	TGG	WNT8B	-	smart_Wnt		0.423	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	G	NM_003393	Missense_Mutation	102222993	1	no_errors	ENST00000343737	ensembl	human	known	70_37	missense	SNP	1.000	T	T	102222993	G	T	102222993	5	4	191	1	0	0	0	0	0	0	1	0	17428	1362	47	4	70	4	WNT8B	10	102222993	Splice_Site	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	6822283	102222993	33311754	48	36585										
FGF8	2253	genome.wustl.edu	37	chr10	103530218	103530218	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggcagccgcttcatgaagtgGacctcacgctggtgctgccg	14	13	2	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:103530218G>T	ENST00000344255.3	-	6	569	c.570C>A	c.(568-570)gtC>gtA	p.V190V	FGF8_ENST00000347978.2_Silent_p.V172V|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.V161V|FGF8_ENST00000320185.2_Silent_p.V201V			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	190					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TCATGAAGTGGACCTCACGCT	0.677																																																	0													34	36	35					10																	103530218		2203	4300	6503	SO:0001819	synonymous_variant	2253			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"Endogenous ligands"	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.570C>A	10.37:g.103530218G>T			A1A514|Q14915|Q15766	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.V201	ENST00000344255.3	37	c.603	CCDS7517.1	10																																																																																			FGF8	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF		0.677	FGF8-004	KNOWN	basic|CCDS	protein_coding	FGF8	HGNC	protein_coding	OTTHUMT00000049999.1	G	NM_006119, NM_033165		103530218	-1	no_errors	ENST00000320185	ensembl	human	known	70_37	silent	SNP	1.000	T	T	103530218	G	T	103530218	2	4	191	1	0	0	0	0	0	0	0	1	5876	1161	41	3		3	FGF8	10	103530218	Silent	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	1307225	103530218	32004529	49	36586										
BUB3	9184	genome.wustl.edu	37	chr10	124914622	124914622	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggcgccgtcctggactgcgcCttctacgtaggtgccctccc	12	17	1	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr10:124914622C>A	ENST00000368865.4	+	2	398	c.189C>A	c.(187-189)gcC>gcA	p.A63A	BUB3_ENST00000368859.2_Silent_p.A63A|BUB3_ENST00000368858.5_Silent_p.A63A|BUB3_ENST00000538238.1_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	63					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				TGGACTGCGCCTTCTACGTAG	0.602																																					GBM(161;1111 1985 17553 20049 26037)												0													74	56	62					10																	124914622		2203	4300	6503	SO:0001819	synonymous_variant	9184			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"WD repeat domain containing"	1151	protein-coding gene	gene with protein product		603719	"BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog", "budding uninhibited by benzimidazoles 3 homolog (yeast)"			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.189C>A	10.37:g.124914622C>A			A6NJ42|B2R6E7|D3DRE9|O43685	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A63	ENST00000368865.4	37	c.189	CCDS7635.1	10																																																																																			BUB3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.602	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BUB3	HGNC	protein_coding	OTTHUMT00000050835.1	C			124914622	1	no_errors	ENST00000368865	ensembl	human	known	70_37	silent	SNP	0.408	A	A	124914622	C	A	124914622	2	1	191	1	0	0	0	0	0	0	0	1	1575	668	24	4		4	BUB3	10	124914622	Silent	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	21384404	124914622	10620125	50	36587										
TRIM5	85363	genome.wustl.edu	37	chr11	5686913	5686913	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gcgtcggacatctgtcagctCtgaaatgataaaaatgcaca	9	9	3	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:5686913C>G	ENST00000380034.3	-	7	1125		c.e7-1		TRIM5_ENST00000396855.3_Splice_Site|TRIM5_ENST00000396847.3_Splice_Site|TRIM5_ENST00000305836.5_Splice_Site|TRIM5_ENST00000380027.1_Splice_Site|TRIM5_ENST00000483835.1_Splice_Site|TRIM5_ENST00000396853.4_Splice_Site	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5						activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCTGTCAGCTCTGAAATGATA	0.373											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													82	83	83					11																	5686913		2201	4295	6496	SO:0001630	splice_region_variant	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.869-1G>C	11.37:g.5686913C>G		628	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Splice_Site	SNP	-	e6-1	ENST00000380034.3	37	c.869-1	CCDS31393.1	11	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648654	0.29336	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000438025;ENST00000396853	.	.	.	3.89	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3502	0.26686	0.0:0.8811:0.0:0.1189	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM5	5643489	0.814000	0.29104	0.868000	0.34077	0.166000	0.22503	1.227000	0.32576	1.247000	0.43917	0.561000	0.74099	.	TRIM5	-	-		0.373	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	HGNC	protein_coding	OTTHUMT00000143360.3	C	NM_033034	Intron	5686913	-1	no_errors	ENST00000305836	ensembl	human	known	70_37	splice_site	SNP	0.872	G	G	5686913	C	G	5686913	5	3	191	1	0	0	0	0	0	0	1	0	16556	927	32	1	860	1	TRIM5	11	5686913	Splice_Site	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		5686913	129319603	51	36588										
USP47	55031	genome.wustl.edu	37	chr11	11964023	11964023	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ccccagtatcttattccaaaAggacagcataccagaaagct	6	12	1	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:11964023A>G	ENST00000399455.2	+	21	2635	c.2515A>G	c.(2515-2517)Agg>Ggg	p.R839G	USP47_ENST00000339865.5_Missense_Mutation_p.R751G|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.R819G	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	839					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.R751W(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTATTCCAAAAGGACAGCATA	0.423																																																	1	Substitution - Missense(1)	lung(1)											90	83	85					11																	11964023		1853	4092	5945	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2515A>G	11.37:g.11964023A>G	ENSP00000382382:p.Arg839Gly		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R839G	ENST00000399455.2	37	c.2515		11	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625169	0.46840	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000540365	T;T;T	0.04917	3.54;3.53;3.53	5.81	5.81	0.92471	.	0.085211	0.85682	D	0.000000	T	0.05868	0.0153	L	0.27053	0.805	0.80722	D	1	B;B;B	0.19817	0.039;0.016;0.027	B;B;B	0.18561	0.014;0.01;0.022	T	0.41395	-0.9511	10	0.32370	T	0.25	.	12.5775	0.56371	0.8617:0.1383:0.0:0.0	.	839;819;751	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	G	751;819;839;36	ENSP00000339957:R751G;ENSP00000433146:R819G;ENSP00000382382:R839G	ENSP00000339957:R751G	R	+	1	2	USP47	11920599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.859000	0.62954	2.217000	0.71921	0.482000	0.46254	AGG	USP47	-	NULL		0.423	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	A	NM_017944		11964023	1	no_errors	ENST00000399455	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11964023	A	G	11964023	3	3	191	1	0	0	0	0	1	0	0	0	17109	63	3	5	2325	5	USP47	11	11964023	Missense_Mutation	SNP	A	TCGA-RA-A741-01A-11D-A33O-09	6277110	11964023	123042493	52	36589										
SPTY2D1	144108	genome.wustl.edu	37	chr11	18636763	18636763	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gtggggtgaccatgggcccaGgcctggaatggctaggatgg	19	8	0	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:18636763G>T	ENST00000336349.5	-	3	1293	c.1058C>A	c.(1057-1059)cCt>cAt	p.P353H	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	353	Ser-rich.							p.P353L(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CATGGGCCCAGGCCTGGAATG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											112	122	118					11																	18636763		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1058C>A	11.37:g.18636763G>T	ENSP00000337991:p.Pro353His		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.P353H	ENST00000336349.5	37	c.1058	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868119	0.51588	.	.	ENSG00000179119	ENST00000336349	T	0.24350	1.86	5.84	5.84	0.93424	.	0.344807	0.31123	N	0.008211	T	0.32496	0.0831	L	0.34521	1.04	0.37248	D	0.906411	D	0.58620	0.983	P	0.54499	0.754	T	0.15150	-1.0447	10	0.72032	D	0.01	-5.7793	13.3441	0.60561	0.0721:0.0:0.9279:0.0	.	353	Q68D10	SPT2_HUMAN	H	353	ENSP00000337991:P353H	ENSP00000337991:P353H	P	-	2	0	SPTY2D1	18593339	0.553000	0.26513	1.000000	0.80357	0.777000	0.43975	1.392000	0.34486	2.762000	0.94881	0.563000	0.77884	CCT	SPTY2D1	-	NULL		0.557	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	G	NM_194285		18636763	-1	no_errors	ENST00000336349	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18636763	G	T	18636763	3	4	191	1	0	0	0	0	1	0	0	0	15156	1000	35	4	1015	4	SPTY2D1	11	18636763	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	6672740	18636763	116369753	53	36590										
KBTBD4	55709	genome.wustl.edu	37	chr11	47599541	47599541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tggatgctccaggctcctctGgtgattccatgctagccaac	10	13	1	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:47599541G>T	ENST00000526005.1	-	2	164	c.11C>A	c.(10-12)cCa>cAa	p.P4Q	NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.P20Q|KBTBD4_ENST00000450908.1_3'UTR|NDUFS3_ENST00000534208.1_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.P4Q|KBTBD4_ENST00000525720.1_Missense_Mutation_p.P53Q|KBTBD4_ENST00000533290.1_Missense_Mutation_p.P29Q|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000529276.1_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	4										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						AGGCTCCTCTGGTGATTCCAT	0.478																																																	0													65	64	65					11																	47599541		2201	4298	6499	SO:0001583	missense	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.11C>A	11.37:g.47599541G>T	ENSP00000433340:p.Pro4Gln		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.P20Q	ENST00000526005.1	37	c.59	CCDS7940.1	11	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696735	0.48202	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	T;T;T;T;T;T;T;T;T	0.76578	-0.55;-0.58;-0.55;-0.58;-0.46;-0.65;-1.02;-1.03;-0.83	5.13	5.13	0.70059	.	0.365044	0.32081	N	0.006604	T	0.63212	0.2492	N	0.14661	0.345	0.32237	N	0.573258	B;B;B	0.26195	0.144;0.037;0.089	B;B;B	0.25987	0.065;0.029;0.029	T	0.68108	-0.5496	10	0.41790	T	0.15	-11.8572	13.2908	0.60270	0.0769:0.0:0.9231:0.0	.	20;4;29	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	Q	4;29;4;20;20;53;4;4;4;29	ENSP00000433340:P4Q;ENSP00000436713:P29Q;ENSP00000378703:P4Q;ENSP00000415106:P20Q;ENSP00000434477:P53Q;ENSP00000433404:P4Q;ENSP00000433653:P4Q;ENSP00000435651:P4Q;ENSP00000433124:P29Q	ENSP00000352971:P20Q	P	-	2	0	KBTBD4	47556117	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.492000	0.53259	2.532000	0.85374	0.561000	0.74099	CCA	KBTBD4	-	NULL		0.478	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	HGNC	protein_coding	OTTHUMT00000391763.1	G	NM_016506		47599541	-1	no_errors	ENST00000430070	ensembl	human	known	70_37	missense	SNP	0.994	T	T	47599541	G	T	47599541	3	4	191	1	0	0	0	0	1	0	0	0	8015	1348	47	4	1557	4	KBTBD4	11	47599541	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	28962778	47599541	87406975	54	36591										
CDC42BPG	55561	genome.wustl.edu	37	chr11	64597491	64597491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cgaccagcaggcctgcactgGggctcaaggtcagctgctgc	14	14	2	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:64597491G>T	ENST00000342711.5	-	30	3418	c.3419C>A	c.(3418-3420)cCc>cAc	p.P1140H	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCCTGCACTGGGGCTCAAGGT	0.647																																																	0													28	30	29					11																	64597491		2201	4296	6497	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3419C>A	11.37:g.64597491G>T	ENSP00000345133:p.Pro1140His			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.P1140H	ENST00000342711.5	37	c.3419	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907350	0.52333	.	.	ENSG00000171219	ENST00000342711	T	0.04654	3.58	4.78	3.81	0.43845	Citron-like (2);	0.163679	0.29572	N	0.011763	T	0.17066	0.0410	M	0.74467	2.265	0.28211	N	0.926915	D	0.59767	0.986	P	0.61533	0.89	T	0.00597	-1.1652	10	0.87932	D	0	.	12.8036	0.57601	0.0:0.0:0.8367:0.1633	.	1140	Q6DT37	MRCKG_HUMAN	H	1140	ENSP00000345133:P1140H	ENSP00000345133:P1140H	P	-	2	0	CDC42BPG	64354067	1.000000	0.71417	0.934000	0.37439	0.317000	0.28152	3.770000	0.55310	2.388000	0.81334	0.655000	0.94253	CCC	CDC42BPG	-	pfam_Citron,smart_Citron		0.647	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64597491	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	0.987	T	T	64597491	G	T	64597491	3	4	191	1	0	0	0	0	1	0	0	0	3079	1232	43	4	1268	4	CDC42BPG	11	64597491	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	16997950	64597491	70409025	55	36592										
UVRAG	7405	genome.wustl.edu	37	chr11	75672544	75672544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggtaactgttcagaaaattgGaaaggaaattgaagaaaaac	10	3	1	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:75672544G>A	ENST00000356136.3	+	7	891	c.650G>A	c.(649-651)gGa>gAa	p.G217E	UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.G116E	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	217					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CAGAAAATTGGAAAGGAAATT	0.323																																																	0													101	109	106					11																	75672544		2200	4291	6491	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.650G>A	11.37:g.75672544G>A	ENSP00000348455:p.Gly217Glu		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.G217E	ENST00000356136.3	37	c.650	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659267	0.88154	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000528264	T;T	0.27402	1.67;1.67	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.48362	1.52	0.80722	D	1	D	0.67145	0.996	D	0.71870	0.975	T	0.16188	-1.0411	10	0.02654	T	1	-16.5572	18.5326	0.90997	0.0:0.0:1.0:0.0	.	217	Q9P2Y5	UVRAG_HUMAN	E	217;116;116	ENSP00000348455:G217E;ENSP00000436039:G116E	ENSP00000348455:G217E	G	+	2	0	UVRAG	75350192	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.292000	0.89930	2.700000	0.92200	0.655000	0.94253	GGA	UVRAG	-	NULL		0.323	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	G	NM_003369		75672544	1	no_errors	ENST00000356136	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75672544	G	A	75672544	3	1	191	1	0	0	0	0	1	0	0	0	17139	1174	41	1	676	1	UVRAG	11	75672544	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	11075053	75672544	59333972	56	36593										
BUD13	84811	genome.wustl.edu	37	chr11	116633813	116633813	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tcatgacgagcccctctgagGggagaaggatccggggtgtc	16	10	2	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:116633813G>T	ENST00000260210.4	-	4	515	c.492C>A	c.(490-492)ccC>ccA	p.P164P	BUD13_ENST00000375445.3_Silent_p.P164P	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	164	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCCCTCTGAGGGGAGAAGGAT	0.592																																																	0													100	107	104					11																	116633813		2201	4296	6497	SO:0001819	synonymous_variant	84811			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.492C>A	11.37:g.116633813G>T			A8K0S0|Q96LS7	Silent	SNP	pfam_Bud13	p.P164	ENST00000260210.4	37	c.492	CCDS8374.1	11																																																																																			BUD13	-	NULL		0.592	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	G	NM_032725		116633813	-1	no_errors	ENST00000260210	ensembl	human	known	70_37	silent	SNP	0.943	T	T	116633813	G	T	116633813	2	4	191	1	0	0	0	0	0	0	0	1	1576	1219	43	4		4	BUD13	11	116633813	Silent	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	40961269	116633813	18372703	57	36594										
ZNF202	7753	genome.wustl.edu	37	chr11	123599867	123599867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gtaagaagagcaaccatctcTgagtctccagagctcctctc	8	13	3	4			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:123599867T>C	ENST00000529691.1	-	4	888	c.669A>G	c.(667-669)tcA>tcG	p.S223S	ZNF202_ENST00000336139.4_Silent_p.S223S|ZNF202_ENST00000530393.1_Silent_p.S223S			O95125	ZN202_HUMAN	zinc finger protein 202	223					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CAACCATCTCTGAGTCTCCAG	0.498																																																	0													89	76	80					11																	123599867		2202	4299	6501	SO:0001819	synonymous_variant	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.669A>G	11.37:g.123599867T>C			B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S223	ENST00000529691.1	37	c.669	CCDS8443.1	11																																																																																			ZNF202	-	NULL		0.498	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	HGNC	protein_coding	OTTHUMT00000387419.1	T	NM_003455		123599867	-1	no_errors	ENST00000336139	ensembl	human	known	70_37	silent	SNP	0.029	C	C	123599867	T	C	123599867	2	2	191	1	0	0	0	0	0	0	0	1	17793	1567	55	5		5	ZNF202	11	123599867	Silent	SNP	T	TCGA-RA-A741-01A-11D-A33O-09	6966054	123599867	11406649	58	36595										
ZNF202	7753	genome.wustl.edu	37	chr11	123600469	123600469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gcagctcattaggtgactcaGgctccactcctaaatgcacc	8	14	2	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr11:123600469G>T	ENST00000529691.1	-	3	686	c.467C>A	c.(466-468)cCt>cAt	p.P156H	ZNF202_ENST00000336139.4_Missense_Mutation_p.P156H|ZNF202_ENST00000530393.1_Missense_Mutation_p.P156H			O95125	ZN202_HUMAN	zinc finger protein 202	156					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AGGTGACTCAGGCTCCACTCC	0.567																																																	0													83	75	78					11																	123600469		2202	4299	6501	SO:0001583	missense	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.467C>A	11.37:g.123600469G>T	ENSP00000433881:p.Pro156His		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P156H	ENST00000529691.1	37	c.467	CCDS8443.1	11	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363421	0.41902	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.06294	3.32;3.32;3.32	5.32	4.4	0.53042	.	0.492896	0.17267	N	0.180524	T	0.04815	0.0130	N	0.19112	0.55	0.09310	N	1	P	0.46327	0.876	B	0.40101	0.319	T	0.36962	-0.9726	10	0.40728	T	0.16	-3.2987	9.6951	0.40152	0.0955:0.0:0.9045:0.0	.	156	O95125	ZN202_HUMAN	H	156	ENSP00000337724:P156H;ENSP00000432504:P156H;ENSP00000433881:P156H	ENSP00000337724:P156H	P	-	2	0	ZNF202	123105679	0.004000	0.15560	0.123000	0.21794	0.694000	0.40290	0.717000	0.25851	1.239000	0.43787	0.557000	0.71058	CCT	ZNF202	-	NULL		0.567	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	HGNC	protein_coding	OTTHUMT00000387419.1	G	NM_003455		123600469	-1	no_errors	ENST00000336139	ensembl	human	known	70_37	missense	SNP	0.019	T	T	123600469	G	T	123600469	3	4	191	1	0	0	0	0	1	0	0	0	17793	1000	35	4	1499	4	ZNF202	11	123600469	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	602	123600469	11406047	59	36596										
MCRS1	10445	genome.wustl.edu	37	chr12	49953006	49953006	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gtgggggataccttgtttccGggatatcttccaggccggac	14	10	1	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:49953006G>T	ENST00000550165.1	-	14	1431	c.1165C>A	c.(1165-1167)Cgg>Agg	p.R389R	MCRS1_ENST00000546244.1_Silent_p.R198R|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Silent_p.R402R|MCRS1_ENST00000343810.4_Silent_p.R389R			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	389	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CCTTGTTTCCGGGATATCTTC	0.602																																																	0													50	45	47					12																	49953006		2203	4300	6503	SO:0001819	synonymous_variant	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.1165C>A	12.37:g.49953006G>T			O14742|O75497|Q6VN53|Q7Z372	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R402	ENST00000550165.1	37	c.1204	CCDS8787.1	12																																																																																			MCRS1	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom		0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	G	NM_006337		49953006	-1	no_errors	ENST00000357123	ensembl	human	known	70_37	silent	SNP	1.000	T	T	49953006	G	T	49953006	2	4	191	1	0	0	0	0	0	0	0	1	9422	1115	39	2		2	MCRS1	12	49953006	Silent	SNP	G	TCGA-RA-A741-01A-11D-A33O-09		49953006	83898889	60	36597										
METTL1	1594	genome.wustl.edu	37	chr12	58163158	58163158	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cacatccagtcgtgtagctcCagcacatcggttatggtata	9	11	0	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:58163158C>A	ENST00000228606.4	-	0	0				METTL1_ENST00000548681.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank|CYP27B1_ENST00000546496.1_5'Flank|METTL21B_ENST00000551420.1_5'Flank|METTL1_ENST00000324871.7_Silent_p.L201L|METTL1_ENST00000257848.7_Nonsense_Mutation_p.G140*	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1						bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CGTGTAGCTCCAGCACATCGG	0.552																																																	0													85	68	74					12																	58163158		2203	4300	6503	SO:0001631	upstream_gene_variant	4234			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457		12.37:g.58163158C>A	Exception_encountered		B2RC61|Q548T3	Nonsense_Mutation	SNP	NULL	p.G140*	ENST00000228606.4	37	c.418	CCDS8954.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.253550|3.253550	0.59212|0.59212	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000257848;ENST00000548504|ENST00000547653	.|.	.|.	.|.	5.82|5.82	4.01|4.01	0.46588|0.46588	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49881	.|0.1583	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58194	.|-0.7679	.|3	0.72032|.	D|.	0.01|.	-1.7873|-1.7873	7.7467|7.7467	0.28873|0.28873	0.0:0.6884:0.0:0.3116|0.0:0.6884:0.0:0.3116	.|.	.|.	.|.	.|.	X|L	140;66|47	.|.	ENSP00000257848:G140X|.	G|W	-|-	1|2	0|0	METTL1|METTL1	56449425|56449425	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	0.638000|0.638000	0.24674|0.24674	0.820000|0.820000	0.34516|0.34516	-0.136000|-0.136000	0.14681|0.14681	GGA|TGG	METTL1	-	NULL		0.552	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL1	HGNC	protein_coding	OTTHUMT00000409248.1	C	NM_000785		58163158	-1	no_errors	ENST00000257848	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	58163158	C	A	58163158	1	1	191	0	1	0	0	0	0	0	0	0	9516	603	21	4		4	METTL1	12	58163158	5'Flank	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	8210152	58163158	75688737	61	36598										
OSBPL8	114882	genome.wustl.edu	37	chr12	76772318	76772318	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cttctccctctaatattgcaGataatgagtttcctgaaata	5	9	2	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:76772318G>A	ENST00000261183.3	-	16	2122	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F	OSBPL8_ENST00000393250.4_Missense_Mutation_p.S506F|OSBPL8_ENST00000393249.2_Missense_Mutation_p.S506F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	548					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TAATATTGCAGATAATGAGTT	0.294																																																	0													136	141	139					12																	76772318		2203	4297	6500	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1643C>T	12.37:g.76772318G>A	ENSP00000261183:p.Ser548Phe		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S548F	ENST00000261183.3	37	c.1643	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.088875	0.94100	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.92412	3.305	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.99;0.992	T	0.74609	-0.3608	10	0.87932	D	0	-13.4751	20.3248	0.98698	0.0:0.0:1.0:0.0	.	523;548	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	F	506;548;533;506;548;548;523	ENSP00000376939:S506F;ENSP00000261183:S548F;ENSP00000376940:S506F;ENSP00000450238:S548F;ENSP00000447893:S523F	ENSP00000261183:S548F	S	-	2	0	OSBPL8	75296449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	2.818000	0.97014	0.655000	0.94253	TCT	OSBPL8	-	pfam_Oxysterol-bd		0.294	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	G	NM_020841		76772318	-1	no_errors	ENST00000261183	ensembl	human	known	70_37	missense	SNP	1.000	A	A	76772318	G	A	76772318	3	1	191	1	0	0	0	0	1	0	0	0	11307	942	33	1	1062	1	OSBPL8	12	76772318	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	18609160	76772318	57079577	62	36599										
CMKLR1	1240	genome.wustl.edu	37	chr12	108686584	108686584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ccattgcccagaatcccgagGaagcagacgatgctgtagac	11	12	0	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:108686584G>T	ENST00000312143.7	-	3	519	c.156C>A	c.(154-156)ttC>ttA	p.F52L	CMKLR1_ENST00000397688.2_Missense_Mutation_p.F50L|CMKLR1_ENST00000552995.1_Missense_Mutation_p.F50L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F52L|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F52L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	52					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GAATCCCGAGGAAGCAGACGA	0.502																																																	0													96	93	94					12																	108686584		1994	4174	6168	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.156C>A	12.37:g.108686584G>T	ENSP00000311733:p.Phe52Leu		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.F52L	ENST00000312143.7	37	c.156	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	0.073	-1.199400	0.01581	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.0	1.6	0.23607	.	0.652897	0.14674	N	0.305198	T	0.12561	0.0305	N	0.11201	0.11	0.32517	N	0.536741	B	0.06786	0.001	B	0.01281	0.0	T	0.31752	-0.9932	10	0.05959	T	0.93	.	8.3399	0.32237	0.0964:0.397:0.5066:0.0	.	52	Q99788	CML1_HUMAN	L	52;52;50;50;52;52;52	ENSP00000311733:F52L;ENSP00000401293:F52L;ENSP00000380803:F50L;ENSP00000447579:F50L;ENSP00000449716:F52L;ENSP00000448925:F52L;ENSP00000448362:F52L	ENSP00000311733:F52L	F	-	3	2	CMKLR1	107210714	1.000000	0.71417	0.799000	0.32177	0.182000	0.23217	0.567000	0.23608	1.059000	0.40554	0.472000	0.43445	TTC	CMKLR1	-	prints_GPCR_Rhodpsn,prints_ATII_rcpt		0.502	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108686584	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	missense	SNP	0.994	T	T	108686584	G	T	108686584	3	4	191	1	0	0	0	0	1	0	0	0	3584	1165	41	3	969	3	CMKLR1	12	108686584	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	31914266	108686584	25165311	63	36600										
C12orf51	283450	genome.wustl.edu	37	chr12	112720970	112720970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	aaccagtcagggcagcaagcGttgctgacggggaggctcta	15	10	2	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr12:112720970G>T	ENST00000430131.2	-	8	1435	c.290C>A	c.(289-291)aCg>aAg	p.T97K	HECTD4_ENST00000550722.1_Missense_Mutation_p.T347K|HECTD4_ENST00000377560.5_Missense_Mutation_p.T347K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	97					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGCAGCAAGCGTTGCTGACGG	0.463																																																	0													105	101	102					12																	112720970		1975	4152	6127	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.290C>A	12.37:g.112720970G>T	ENSP00000404379:p.Thr97Lys		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.T347K	ENST00000430131.2	37	c.1040		12	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820313	0.90873	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.53423	0.84;0.62;0.83	5.62	5.62	0.85841	.	.	.	.	.	T	0.52058	0.1711	N	0.08118	0	0.53005	D	0.999969	D	0.63880	0.993	D	0.74023	0.982	T	0.63161	-0.6699	9	0.72032	D	0.01	.	19.6499	0.95796	0.0:0.0:1.0:0.0	.	97	Q9Y4D8	K0614_HUMAN	K	347;97;347	ENSP00000366783:T347K;ENSP00000404379:T97K;ENSP00000449784:T347K	ENSP00000366783:T347K	T	-	2	0	C12orf51	111205353	1.000000	0.71417	0.152000	0.22495	0.690000	0.40134	9.434000	0.97515	2.663000	0.90544	0.561000	0.74099	ACG	HECTD4	-	NULL		0.463	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112720970	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112720970	G	T	112720970	3	4	191	1	0	0	0	0	1	0	0	0	1700	1145	40	2	11972	2	C12orf51	12	112720970	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	4034386	112720970	21130925	64	36601										
FAM123A	219287	genome.wustl.edu	37	chr13	25744029	25744029	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ccgggacagggaggacgtctCctcgttgtccttccctccag	12	15	1	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr13:25744029C>A	ENST00000515384.1	-	1	2396	c.1729G>T	c.(1729-1731)Gag>Tag	p.E577*	AMER2_ENST00000381853.3_Nonsense_Mutation_p.E458*|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Nonsense_Mutation_p.E458*			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	577					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GAGGACGTCTCCTCGTTGTCC	0.592																																																	0													126	111	116					13																	25744029		2203	4300	6503	SO:0001587	stop_gained	219287			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1729G>T	13.37:g.25744029C>A	ENSP00000426528:p.Glu577*		Q5RL80|Q5VX56|Q8N593|Q96NN5	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E577*	ENST00000515384.1	37	c.1729	CCDS53859.1	13	.	.	.	.	.	.	.	.	.	.	C	44	10.926604	0.99489	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	.	.	.	5.57	4.67	0.58626	.	0.765433	0.10548	U	0.661786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-15.2342	15.0163	0.71588	0.0:0.8574:0.1426:0.0	.	.	.	.	X	458;458;577	.	ENSP00000350469:E458X	E	-	1	0	FAM123A	24642029	0.904000	0.30761	0.972000	0.41901	0.904000	0.53231	1.375000	0.34295	2.619000	0.88677	0.561000	0.74099	GAG	FAM123A	-	pfam_Uncharacterised_FAM123		0.592	AMER2-002	KNOWN	basic|CCDS	protein_coding	FAM123A	HGNC	protein_coding	OTTHUMT00000370229.1	C	NM_152704		25744029	-1	no_errors	ENST00000515384	ensembl	human	known	70_37	nonsense	SNP	0.996	A	A	25744029	C	A	25744029	4	1	191	1	0	0	0	0	0	1	0	0	5437	864	30	3	290	3	FAM123A	13	25744029	Nonsense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		25744029	89425849	65	36602										
RTF1	23168	genome.wustl.edu	37	chr15	41745177	41745177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	aaggaaccatgaagaaacagGccaacaaaactgcctcctca	7	12	1	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr15:41745177G>T	ENST00000389629.4	+	3	400	c.388G>T	c.(388-390)Gcc>Tcc	p.A130S	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	130					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAAGAAACAGGCCAACAAAAC	0.448																																																	0													82	76	78					15																	41745177		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.388G>T	15.37:g.41745177G>T	ENSP00000374280:p.Ala130Ser		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.A130S	ENST00000389629.4	37	c.388	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	G	8.575	0.880967	0.17467	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.66	1.53	0.23141	.	0.545685	0.22228	N	0.062859	T	0.19485	0.0468	N	0.19112	0.55	0.31200	N	0.69989	B	0.13594	0.008	B	0.14578	0.011	T	0.18178	-1.0345	9	0.07990	T	0.79	-1.6533	4.4149	0.11452	0.3214:0.0:0.5206:0.158	.	130	Q92541	RTF1_HUMAN	S	130	.	ENSP00000374280:A130S	A	+	1	0	RTF1	39532469	0.583000	0.26757	0.989000	0.46669	0.999000	0.98932	0.717000	0.25851	0.877000	0.35895	0.655000	0.94253	GCC	RTF1	-	NULL		0.448	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	G	NM_015138		41745177	1	no_errors	ENST00000389629	ensembl	human	known	70_37	missense	SNP	0.953	T	T	41745177	G	T	41745177	3	4	191	1	0	0	0	0	1	0	0	0	13751	1203	42	4	398	4	RTF1	15	41745177	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09		41745177	60786215	66	36603										
TRAF7	84231	genome.wustl.edu	37	chr16	2225135	2225135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	caaactctacagcggctctgCagactgcaccatcattgtga	8	13	3	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr16:2225135C>T	ENST00000326181.6	+	15	1502	c.1370C>T	c.(1369-1371)gCa>gTa	p.A457V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	457					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A457V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGCGGCTCTGCAGACTGCACC	0.647																																																	1	Substitution - Missense(1)	lung(1)											113	108	110					16																	2225135		2198	4300	6498	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1370C>T	16.37:g.2225135C>T	ENSP00000318944:p.Ala457Val		Q9H073	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A457V	ENST00000326181.6	37	c.1370	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.307724	0.95629	.	.	ENSG00000131653	ENST00000326181	T	0.43688	0.94	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	N	0.21617	0.685	0.80722	D	1	B	0.27823	0.19	B	0.28011	0.085	T	0.10706	-1.0618	10	0.42905	T	0.14	-16.9669	17.9567	0.89072	0.0:1.0:0.0:0.0	.	457	Q6Q0C0	TRAF7_HUMAN	V	457	ENSP00000318944:A457V	ENSP00000318944:A457V	A	+	2	0	TRAF7	2165136	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.714000	0.84703	2.505000	0.84491	0.561000	0.74099	GCA	TRAF7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.647	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	C	NM_032271		2225135	1	no_errors	ENST00000326181	ensembl	human	known	70_37	missense	SNP	1.000	T	T	2225135	C	T	2225135	3	4	191	1	0	0	0	0	1	0	0	0	16477	710	25	4	1424	4	TRAF7	16	2225135	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		2225135	88129618	67	36604										
EEF2K	29904	genome.wustl.edu	37	chr16	22268678	22268678	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ccacagatccacacggagacGggcactgactttggagacgg	13	12	0	4	rs140938002	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr16:22268678G>T	ENST00000263026.5	+	8	1347	c.873G>T	c.(871-873)acG>acT	p.T291T		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	291	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.		T -> M (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACACGGAGACGGGCACTGACT	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)												0													134	109	117					16																	22268678		2197	4300	6497	SO:0001819	synonymous_variant	29904			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.873G>T	16.37:g.22268678G>T			Q8N588	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.T291	ENST00000263026.5	37	c.873	CCDS10604.1	16																																																																																			EEF2K	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	G	NM_013302		22268678	1	no_errors	ENST00000263026	ensembl	human	known	70_37	silent	SNP	0.002	T	T	22268678	G	T	22268678	2	4	191	1	0	0	0	0	0	0	0	1	4940	1103	39	2		2	EEF2K	16	22268678	Silent	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	20043543	22268678	68086075	68	36605										
WDR81	124997	genome.wustl.edu	37	chr17	1629270	1629270	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggagggcaacctgggcaaccCactggccaggaggaacttcg	15	12	0	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:1629270C>A	ENST00000409644.1	+	1	1017	c.1017C>A	c.(1015-1017)ccC>ccA	p.P339P	WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	339	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGGCAACCCACTGGCCAGG	0.617																																																	0													63	60	61					17																	1629270		692	1591	2283	SO:0001819	synonymous_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1017C>A	17.37:g.1629270C>A			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P339	ENST00000409644.1	37	c.1017	CCDS54062.1	17																																																																																			WDR81	-	pfscan_BEACH_dom		0.617	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1629270	1	no_errors	ENST00000409644	ensembl	human	known	70_37	silent	SNP	0.001	A	A	1629270	C	A	1629270	2	1	191	1	0	0	0	0	0	0	0	1	17361	581	21	4		4	WDR81	17	1629270	Silent	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		1629270	79565940	69	36606										
EPN2	22905	genome.wustl.edu	37	chr17	19186471	19186471	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	agacggcagatgaaaaacatCgtgaacaattactcagaggc	10	8	1	5	rs150823408	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:19186471C>T	ENST00000314728.5	+	3	523	c.39C>T	c.(37-39)atC>atT	p.I13I	EPN2_ENST00000395626.1_Silent_p.I13I|EPN2_ENST00000395620.2_Silent_p.I13I|EPN2_ENST00000347697.2_Silent_p.I13I|EPN2_ENST00000571254.1_Silent_p.I13I|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395618.3_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	13	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGAAAAACATCGTGAACAATT	0.458																																																	0								C	,,	0,4406		0,0,2203	65	70	68		,39,39	-1.7	1	17	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	intron,coding-synonymous,coding-synonymous	EPN2	NM_001102664.1,NM_014964.4,NM_148921.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	,13/642,13/585	19186471	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22905			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.39C>T	17.37:g.19186471C>T			A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.I13	ENST00000314728.5	37	c.39	CCDS11203.1	17																																																																																			EPN2	-	superfamily_ENTH_VHS,pfscan_Epsin-like_N		0.458	EPN2-001	KNOWN	basic|CCDS	protein_coding	EPN2	HGNC	protein_coding	OTTHUMT00000132283.3	C	NM_014964		19186471	1	no_errors	ENST00000314728	ensembl	human	known	70_37	silent	SNP	0.995	T	T	19186471	C	T	19186471	2	4	191	1	0	0	0	0	0	0	0	1	5198	874	31	1		1	EPN2	17	19186471	Silent	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	17557201	19186471	62008739	70	36607										
GPR179	440435	genome.wustl.edu	37	chr17	36484666	36484666	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tcttgttctttcatttacctCccagggacagatttctgttt	6	10	4	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:36484666C>A	ENST00000342292.4	-	11	4806	c.4786G>T	c.(4786-4788)Gag>Tag	p.E1596*	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1596					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCATTTACCTCCCAGGGACAG	0.493																																																	0													163	161	162					17																	36484666		1984	4180	6164	SO:0001587	stop_gained	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4786G>T	17.37:g.36484666C>A	ENSP00000345060:p.Glu1596*			Nonsense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.E1596*	ENST00000342292.4	37	c.4786	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.121756	0.99340	.	.	ENSG00000188888	ENST00000342292	.	.	.	4.99	4.03	0.46877	.	0.298726	0.24063	N	0.041883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.8377	10.9461	0.47301	0.0:0.9122:0.0:0.0878	.	.	.	.	X	1596	.	ENSP00000345060:E1596X	E	-	1	0	GPR179	33738192	1.000000	0.71417	0.995000	0.50966	0.388000	0.30384	3.776000	0.55356	1.337000	0.45525	-0.224000	0.12420	GAG	GPR179	-	NULL		0.493	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36484666	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	36484666	C	A	36484666	4	1	191	1	0	0	0	0	0	1	0	0	6693	864	30	3	2321	3	GPR179	17	36484666	Nonsense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	17298195	36484666	44710544	71	36608										
FKBP10	60681	genome.wustl.edu	37	chr17	39975837	39975837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggcagggttacatcatccccGggatggaccaggggctgcag	16	11	1	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:39975837G>T	ENST00000321562.4	+	6	1077	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	FKBP10_ENST00000544340.1_Missense_Mutation_p.G37W	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	325	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CATCATCCCCGGGATGGACCA	0.617																																																	0													48	44	46					17																	39975837		2203	4300	6503	SO:0001583	missense	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.973G>T	17.37:g.39975837G>T	ENSP00000317232:p.Gly325Trp		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.G325W	ENST00000321562.4	37	c.973	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.295594	0.95574	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340	D;D	0.89810	-2.57;-2.57	5.62	5.62	0.85841	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.97411	0.9153	H	0.99425	4.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99013	1.0815	10	0.87932	D	0	-20.1384	19.2366	0.93862	0.0:0.0:1.0:0.0	.	37;325	Q9H6J3;Q96AY3	.;FKB10_HUMAN	W	213;325;325;37	ENSP00000317232:G325W;ENSP00000442009:G37W	ENSP00000269598:G213W	G	+	1	0	FKBP10	37229363	1.000000	0.71417	0.967000	0.41034	0.788000	0.44548	7.967000	0.87967	2.651000	0.90000	0.561000	0.74099	GGG	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.617	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	G	NM_021939		39975837	1	no_errors	ENST00000321562	ensembl	human	known	70_37	missense	SNP	1.000	T	T	39975837	G	T	39975837	3	4	191	1	0	0	0	0	1	0	0	0	5920	1116	39	2	995	2	FKBP10	17	39975837	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	3491171	39975837	41219373	72	36609										
RNF157	114804	genome.wustl.edu	37	chr17	74158698	74158698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ctgaaggaggtagctgacccCgtctacctgaacagcaaaca	10	12	1	3	rs570180754		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:74158698C>A	ENST00000269391.6	-	9	859	c.727G>T	c.(727-729)Ggg>Tgg	p.G243W	RNF157_ENST00000319945.6_Missense_Mutation_p.G243W	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	243							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TAGCTGACCCCGTCTACCTGA	0.428																																					GBM(186;507 2120 27388 27773 52994)												0													98	84	89					17																	74158698		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.727G>T	17.37:g.74158698C>A	ENSP00000269391:p.Gly243Trp		Q8NB72|Q96N56	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G243W	ENST00000269391.6	37	c.727	CCDS32740.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459511	0.84317	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.32272	1.46;1.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68652	-0.5352	10	0.87932	D	0	-14.0309	19.3121	0.94192	0.0:1.0:0.0:0.0	.	243;243	Q96PX1-2;Q96PX1	.;RN157_HUMAN	W	243;243;205	ENSP00000269391:G243W;ENSP00000321837:G243W	ENSP00000269391:G243W	G	-	1	0	RNF157	71670293	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	3.944000	0.56629	2.544000	0.85801	0.655000	0.94253	GGG	RNF157	-	NULL		0.428	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF157	HGNC	protein_coding	OTTHUMT00000255874.2	C	XM_290732		74158698	-1	no_errors	ENST00000269391	ensembl	human	known	70_37	missense	SNP	1.000	A	A	74158698	C	A	74158698	3	1	191	1	0	0	0	0	1	0	0	0	13484	652	23	2	1356	2	RNF157	17	74158698	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	34182861	74158698	7036512	73	36610										
TMC6	11322	genome.wustl.edu	37	chr17	76115098	76115098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gcttgatgatctgcacggcgGggaggaggggcgagaagagc	20	7	1	4			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr17:76115098G>T	ENST00000590602.1	-	15	2000	c.1841C>A	c.(1840-1842)cCc>cAc	p.P614H	TMC6_ENST00000392467.3_Missense_Mutation_p.P614H|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.P193H|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.P193H|TMC6_ENST00000322914.3_Missense_Mutation_p.P614H			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	614					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGCACGGCGGGGAGGAGGGG	0.677																																																	0													19	17	18					17																	76115098		2198	4297	6495	SO:0001583	missense	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1841C>A	17.37:g.76115098G>T	ENSP00000465261:p.Pro614His		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.P614H	ENST00000590602.1	37	c.1841	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274424	0.80580	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933;ENST00000392466	T;T;T	0.67523	-0.27;-0.27;-0.27	4.58	4.58	0.56647	.	0.059487	0.64402	D	0.000002	D	0.86838	0.6029	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91082	0.4900	10	0.72032	D	0.01	-16.6397	17.3433	0.87303	0.0:0.0:1.0:0.0	.	614;193	Q7Z403;Q7Z403-3	TMC6_HUMAN;.	H	614;614;193;80	ENSP00000313408:P614H;ENSP00000376260:P614H;ENSP00000313479:P193H	ENSP00000313408:P614H	P	-	2	0	TMC6	73626693	1.000000	0.71417	0.965000	0.40720	0.654000	0.38779	8.784000	0.91818	2.079000	0.62486	0.561000	0.74099	CCC	TMC6	-	pfam_TMC		0.677	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76115098	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	1.000	T	T	76115098	G	T	76115098	3	4	191	1	0	0	0	0	1	0	0	0	16019	1232	43	4	600	4	TMC6	17	76115098	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	1956400	76115098	5080112	74	36611										
ATP9B	374868	genome.wustl.edu	37	chr18	77107900	77107900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cggccagttcgtcatgcacaGgggccttatcatctccacca	9	15	3	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr18:77107900G>T	ENST00000426216.2	+	24	2830	c.2813G>T	c.(2812-2814)aGg>aTg	p.R938M	ATP9B_ENST00000307671.7_Missense_Mutation_p.R938M|ATP9B_ENST00000543761.1_Missense_Mutation_p.R259M	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	938					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTCATGCACAGGGGCCTTATC	0.627																																																	0													57	56	56					18																	77107900		2203	4300	6503	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2813G>T	18.37:g.77107900G>T	ENSP00000398076:p.Arg938Met		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R938M	ENST00000426216.2	37	c.2813	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121563	0.77436	.	.	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	T;T;T	0.70749	-0.51;-0.51;-0.51	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.987;0.977;0.99	D	0.93483	0.6829	10	0.87932	D	0	.	18.2623	0.90039	0.0:0.0:1.0:0.0	.	311;259;938;938	B3KSI8;F5H8J1;O43861;O43861-2	.;.;ATP9B_HUMAN;.	M	938;938;259	ENSP00000398076:R938M;ENSP00000304500:R938M;ENSP00000442015:R259M	ENSP00000304500:R938M	R	+	2	0	ATP9B	75208888	1.000000	0.71417	0.962000	0.40283	0.620000	0.37586	9.093000	0.94163	2.306000	0.77630	0.563000	0.77884	AGG	ATP9B	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.627	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	G	NM_198531		77107900	1	no_errors	ENST00000426216	ensembl	human	known	70_37	missense	SNP	1.000	T	T	77107900	G	T	77107900	3	4	191	1	0	0	0	0	1	0	0	0	1200	1000	35	4	2907	4	ATP9B	18	77107900	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09		77107900	969348	75	36612										
AP3D1	8943	genome.wustl.edu	37	chr19	2130441	2130441	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tccagcttctccttcagccgGggaaaggcagggcgcagcga	14	13	2	0			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:2130441G>T	ENST00000345016.5	-	6	789	c.558C>A	c.(556-558)ccC>ccA	p.P186P	AP3D1_ENST00000355272.6_Silent_p.P186P|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000350812.6_Intron	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	186					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCAGCCGGGGAAAGGCAG	0.597																																																	0													91	102	99					19																	2130441		2038	4184	6222	SO:0001819	synonymous_variant	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.558C>A	19.37:g.2130441G>T			O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.P186	ENST00000345016.5	37	c.558	CCDS42459.1	19																																																																																			AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu		0.597	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	G			2130441	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	silent	SNP	0.971	T	T	2130441	G	T	2130441	2	4	191	1	0	0	0	0	0	0	0	1	746	1219	43	4		4	AP3D1	19	2130441	Silent	SNP	G	TCGA-RA-A741-01A-11D-A33O-09		2130441	56998542	76	36613										
MUC16	94025	genome.wustl.edu	37	chr19	9090910	9090910	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gggaggtgagactctggcctGagaatatgctggtctctgat	15	7	2	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:9090910G>A	ENST00000397910.4	-	1	1108	c.905C>T	c.(904-906)tCa>tTa	p.S302L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	302	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCTGGCCTGAGAATATGCT	0.507																																																	0													113	116	115					19																	9090910		2006	4182	6188	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.905C>T	19.37:g.9090910G>A	ENSP00000381008:p.Ser302Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S302L	ENST00000397910.4	37	c.905	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.831	0.154581	0.09236	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.34	1.34	0.21922	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.42716	-0.9435	8	0.87932	D	0	.	6.1523	0.20318	0.0:0.0:1.0:0.0	.	302	B5ME49	.	L	302	ENSP00000381008:S302L	ENSP00000381008:S302L	S	-	2	0	MUC16	8951910	0.003000	0.15002	0.004000	0.12327	0.029000	0.11900	0.222000	0.17699	1.063000	0.40649	0.306000	0.20318	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9090910	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.005	A	A	9090910	G	A	9090910	3	1	191	1	0	0	0	0	1	0	0	0	9996	1294	45	1	42954	1	MUC16	19	9090910	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	6960469	9090910	50038073	77	36614										
ZSWIM4	65249	genome.wustl.edu	37	chr19	13936364	13936364	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ctgtcccgcccttcacccagGagaccccaagtggctgcaca	9	18	1	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:13936364G>T	ENST00000254323.2	+	11	2054	c.1865G>T	c.(1864-1866)gGa>gTa	p.G622V	ZSWIM4_ENST00000440752.2_Splice_Site_p.G456V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	622							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTTCACCCAGGAGACCCCAAG	0.622																																																	0													89	91	90					19																	13936364		2203	4300	6503	SO:0001630	splice_region_variant	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1865-1G>T	19.37:g.13936364G>T				Missense_Mutation	SNP	pfscan_Znf_SWIM	p.G622V	ENST00000254323.2	37	c.1865	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989860	0.54041	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.54866	0.55;0.56	3.89	3.89	0.44902	.	0.126193	0.32918	N	0.005484	T	0.52549	0.1741	L	0.41906	1.305	0.80722	D	1	P;P	0.49862	0.873;0.929	P;P	0.51324	0.49;0.666	T	0.50659	-0.8802	9	.	.	.	.	13.3774	0.60747	0.0:0.0:1.0:0.0	.	456;622	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	V	622;456	ENSP00000254323:G622V;ENSP00000405278:G456V	.	G	+	2	0	ZSWIM4	13797364	1.000000	0.71417	0.994000	0.49952	0.765000	0.43378	9.145000	0.94634	2.001000	0.58596	0.591000	0.81541	GGA	ZSWIM4	-	NULL		0.622	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	G	XM_031342	Missense_Mutation	13936364	1	no_errors	ENST00000254323	ensembl	human	known	70_37	missense	SNP	1.000	T	T	13936364	G	T	13936364	5	4	191	1	0	0	0	0	0	0	1	0	18273	1188	41	3	1907	3	ZSWIM4	19	13936364	Splice_Site	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	4845454	13936364	45192619	78	36615										
TMEM38A	79041	genome.wustl.edu	37	chr19	16790905	16790905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tccttggggagccactgatcGattacttcagcaacaactcc	8	13	1	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:16790905G>T	ENST00000187762.2	+	2	326	c.235G>T	c.(235-237)Gat>Tat	p.D79Y		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	79						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCCACTGATCGATTACTTCAG	0.607																																																	0													61	50	53					19																	16790905		2203	4300	6503	SO:0001583	missense	79041			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.235G>T	19.37:g.16790905G>T	ENSP00000187762:p.Asp79Tyr		A8K9P9	Missense_Mutation	SNP	pfam_TRIC_channel	p.D79Y	ENST00000187762.2	37	c.235	CCDS12349.1	19	.	.	.	.	.	.	.	.	.	.	g	17.27	3.347143	0.61183	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.61	4.57	0.56435	.	0.151060	0.56097	D	0.000021	T	0.49236	0.1545	L	0.47716	1.5	0.50313	D	0.999868	P	0.47484	0.896	P	0.46320	0.512	T	0.51204	-0.8735	9	0.59425	D	0.04	-36.5837	9.7697	0.40582	0.074:0.2427:0.6833:0.0	.	79	Q9H6F2	TM38A_HUMAN	Y	79	.	ENSP00000187762:D79Y	D	+	1	0	TMEM38A	16651905	1.000000	0.71417	0.983000	0.44433	0.821000	0.46438	5.128000	0.64733	2.656000	0.90262	0.561000	0.74099	GAT	TMEM38A	-	pfam_TRIC_channel		0.607	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38A	HGNC	protein_coding	OTTHUMT00000462841.1	G	NM_024074		16790905	1	no_errors	ENST00000187762	ensembl	human	known	70_37	missense	SNP	1.000	T	T	16790905	G	T	16790905	3	4	191	1	0	0	0	0	1	0	0	0	16189	1058	37	3	241	3	TMEM38A	19	16790905	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09	2854541	16790905	42338078	79	36616										
CACNG6	59285	genome.wustl.edu	37	chr19	54515286	54515286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	agtcagcccggagcctccccCggccccacgcctcacctacg	9	22	2	0	rs369729281	byFrequency	TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr19:54515286C>T	ENST00000252729.2	+	4	1216	c.626C>T	c.(625-627)cCg>cTg	p.P209L	CACNG6_ENST00000346968.2_Missense_Mutation_p.P163L|CACNG6_ENST00000352529.1_Missense_Mutation_p.P138L	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	209					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAGCCTCCCCCGGCCCCACGC	0.692																																																	0													28	32	31					19																	54515286		2203	4299	6502	SO:0001583	missense	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.626C>T	19.37:g.54515286C>T	ENSP00000252729:p.Pro209Leu			Missense_Mutation	SNP	prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.P209L	ENST00000252729.2	37	c.626	CCDS12870.1	19	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440634	0.25900	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.69561	-0.41;1.51;1.51	3.76	-0.811	0.10857	.	0.934799	0.08776	N	0.895525	T	0.52948	0.1766	N	0.22421	0.69	0.09310	N	1	D;B;B	0.61080	0.989;0.035;0.021	P;B;B	0.49332	0.607;0.016;0.007	T	0.44498	-0.9324	10	0.35671	T	0.21	-15.6325	3.6182	0.08085	0.0:0.4804:0.1906:0.329	.	138;163;209	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	L	209;138;163	ENSP00000252729:P209L;ENSP00000319135:P138L;ENSP00000319097:P163L	ENSP00000252729:P209L	P	+	2	0	CACNG6	59207098	0.000000	0.05858	0.000000	0.03702	0.756000	0.42949	-0.768000	0.04715	-0.026000	0.13895	0.558000	0.71614	CCG	CACNG6	-	NULL		0.692	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	HGNC	protein_coding	OTTHUMT00000139359.1	C			54515286	1	no_errors	ENST00000252729	ensembl	human	known	70_37	missense	SNP	0.000	T	T	54515286	C	T	54515286	3	4	191	1	0	0	0	0	1	0	0	0	2566	652	23	2	640	2	CACNG6	19	54515286	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	37724381	54515286	4613697	80	36617										
FASTKD5	60493	genome.wustl.edu	37	chr20	3128327	3128327	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ttctgggtactggttgaattCaggcatctttctgtgaatct	10	7	5	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr20:3128327C>A	ENST00000380266.3	-	2	1711	c.1390G>T	c.(1390-1392)Gaa>Taa	p.E464*	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	464					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TGGTTGAATTCAGGCATCTTT	0.458																																																	0													122	127	125					20																	3128327		2203	4300	6503	SO:0001587	stop_gained	60493			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1390G>T	20.37:g.3128327C>A	ENSP00000369618:p.Glu464*		Q96JN3|Q9H5D1|Q9H8Y3	Nonsense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.E464*	ENST00000380266.3	37	c.1390	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.374966	0.97515	.	.	ENSG00000215251	ENST00000380266	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.2602	0.93964	0.0:1.0:0.0:0.0	.	.	.	.	X	464	.	ENSP00000369618:E464X	E	-	1	0	FASTKD5	3076327	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	7.195000	0.77798	2.631000	0.89168	0.313000	0.20887	GAA	FASTKD5	-	pfam_FAST_Leu-rich		0.458	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2	C	NM_021826		3128327	-1	no_errors	ENST00000380266	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	3128327	C	A	3128327	4	1	191	1	0	0	0	0	0	1	0	0	5706	835	29	3	908	3	FASTKD5	20	3128327	Nonsense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		3128327	59897193	81	36618										
IFNGR2	3460	genome.wustl.edu	37	chr21	34799326	34799326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tgtccattactgggaaaaagGaggaatccaacaggcaagag	12	7	0	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr21:34799326G>T	ENST00000290219.6	+	4	1196	c.548G>T	c.(547-549)gGa>gTa	p.G183V	IFNGR2_ENST00000405436.1_Missense_Mutation_p.G104V|IFNGR2_ENST00000381995.1_Missense_Mutation_p.G202V	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	183	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TGGGAAAAAGGAGGAATCCAA	0.423																																																	0													195	202	200					21																	34799326		2203	4300	6503	SO:0001583	missense	3460				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.548G>T	21.37:g.34799326G>T	ENSP00000290219:p.Gly183Val		Q9BTL5	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.G183V	ENST00000290219.6	37	c.548	CCDS33544.1	21	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824561	0.32237	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	T;T;T	0.50277	0.75;0.75;0.75	5.38	-10.8	0.00216	Fibronectin, type III (3);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	2.317520	0.01513	N	0.018003	T	0.40398	0.1115	L	0.49778	1.585	0.09310	N	0.999995	P;B	0.39352	0.669;0.27	B;B	0.38106	0.265;0.136	T	0.54029	-0.8354	10	0.62326	D	0.03	0.2837	12.5057	0.55979	0.3299:0.1862:0.4839:0.0	.	202;183	E7EUY1;P38484	.;INGR2_HUMAN	V	183;202;104	ENSP00000290219:G183V;ENSP00000371425:G202V;ENSP00000385044:G104V	ENSP00000290219:G183V	G	+	2	0	IFNGR2	33721196	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.081000	0.03403	-1.875000	0.01132	-0.256000	0.11100	GGA	IFNGR2	-	pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR2	HGNC	protein_coding	OTTHUMT00000139916.1	G			34799326	1	no_errors	ENST00000290219	ensembl	human	known	70_37	missense	SNP	0.000	T	T	34799326	G	T	34799326	3	4	191	1	0	0	0	0	1	0	0	0	7570	1174	41	3	562	3	IFNGR2	21	34799326	Missense_Mutation	SNP	G	TCGA-RA-A741-01A-11D-A33O-09		34799326	13330569	82	36619										
CBS	875	genome.wustl.edu	37	chr21	44488649	44488649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	cttcaggccgaacttcttccCaatcttgttgattctgacca	6	13	4	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr21:44488649C>A	ENST00000398165.3	-	4	545	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	CBS_ENST00000398168.1_Missense_Mutation_p.G96W|CBS_ENST00000398158.1_Missense_Mutation_p.G96W|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000359624.3_Missense_Mutation_p.G96W|CBS_ENST00000544202.1_Missense_Mutation_p.G8W|CBS_ENST00000352178.5_Missense_Mutation_p.G96W	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	96					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	AACTTCTTCCCAATCTTGTTG	0.522																																																	0													104	100	101					21																	44488649		2203	4300	6503	SO:0001583	missense	875			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.286G>T	21.37:g.44488649C>A	ENSP00000381231:p.Gly96Trp		B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_Cysta_beta_synth_core,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth	p.G96W	ENST00000398165.3	37	c.286	CCDS13693.1	21	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637157	0.29157	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202;ENST00000441030	D;D;D;D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63;-5.63;-5.63;-5.63	4.81	1.87	0.25490	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.341118	0.31199	N	0.008066	D	0.99017	0.9664	M	0.77616	2.38	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96217	0.9157	10	0.87932	D	0	-20.1304	4.7712	0.13157	0.1596:0.6138:0.1442:0.0824	.	96	P35520	CBS_HUMAN	W	96;96;96;96;96;53;8;96	ENSP00000381225:G96W;ENSP00000381231:G96W;ENSP00000352643:G96W;ENSP00000344460:G96W;ENSP00000381234:G96W;ENSP00000439332:G8W;ENSP00000388235:G96W	ENSP00000344460:G96W	G	-	1	0	CBS	43361718	1.000000	0.71417	0.002000	0.10522	0.184000	0.23303	1.914000	0.39966	0.145000	0.18977	-0.136000	0.14681	GGG	CBS	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth		0.522	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBS	HGNC	protein_coding	OTTHUMT00000195525.1	C	NM_000071		44488649	-1	no_errors	ENST00000398168	ensembl	human	known	70_37	missense	SNP	0.173	A	A	44488649	C	A	44488649	3	1	191	1	0	0	0	0	1	0	0	0	2716	594	21	4	1425	4	CBS	21	44488649	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	9689323	44488649	3641246	83	36620										
MICALL1	85377	genome.wustl.edu	37	chr22	38313730	38313730	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gcagctggtgtctcgccaccCagaaagggccttgcaccctg	12	15	1	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chr22:38313730C>A	ENST00000215957.6	+	4	480	c.354C>A	c.(352-354)ccC>ccA	p.P118P		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	118					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCTCGCCACCCAGAAAGGGCC	0.592																																																	0													74	62	66					22																	38313730		2203	4300	6503	SO:0001819	synonymous_variant	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.354C>A	22.37:g.38313730C>A			Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P118	ENST00000215957.6	37	c.354	CCDS13961.1	22																																																																																			MICALL1	-	NULL		0.592	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	C	NM_033386		38313730	1	no_errors	ENST00000215957	ensembl	human	known	70_37	silent	SNP	0.993	A	A	38313730	C	A	38313730	2	1	191	1	0	0	0	0	0	0	0	1	9596	581	21	4		4	MICALL1	22	38313730	Silent	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		38313730	12990836	84	36621										
MXRA5	25878	genome.wustl.edu	37	chrX	3242779	3242779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	tcatattcaaagagatgctcCactggggcagttggaatttc	10	8	2	1			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chrX:3242779C>A	ENST00000217939.6	-	5	1101	c.947G>T	c.(946-948)tGg>tTg	p.W316L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	316						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAGATGCTCCACTGGGGCAG	0.493																																																	0													107	82	91					X																	3242779		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.947G>T	X.37:g.3242779C>A	ENSP00000217939:p.Trp316Leu		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.W316L	ENST00000217939.6	37	c.947	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165420	0.38217	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70631	-0.5	3.41	3.41	0.39046	.	0.000000	0.36268	U	0.002689	T	0.77130	0.4085	L	0.50333	1.59	0.34848	D	0.741419	D	0.76494	0.999	D	0.63957	0.92	T	0.81581	-0.0867	10	0.32370	T	0.25	.	14.6991	0.69145	0.0:1.0:0.0:0.0	.	316	Q9NR99	MXRA5_HUMAN	L	316	ENSP00000217939:W316L	ENSP00000217939:W316L	W	-	2	0	MXRA5	3252779	1.000000	0.71417	0.026000	0.17262	0.004000	0.04260	6.358000	0.73055	1.331000	0.45412	0.425000	0.28330	TGG	MXRA5	-	NULL		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3242779	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.997	A	A	3242779	C	A	3242779	3	1	191	1	0	0	0	0	1	0	0	0	10026	595	21	4	7551	4	MXRA5	23	3242779	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09		3242779	152027781	85	36622										
TBC1D25	4943	genome.wustl.edu	37	chrX	48419230	48419230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggattataatgagctggccaTgcactttgaccgccttgtgc	11	10	0	2			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chrX:48419230T>G	ENST00000376771.4	+	6	2275	c.1934T>G	c.(1933-1935)aTg>aGg	p.M645R	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.M391R	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	645					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAGCTGGCCATGCACTTTGAC	0.602																																																	0													65	55	59					X																	48419230		2203	4300	6503	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1934T>G	X.37:g.48419230T>G	ENSP00000365962:p.Met645Arg		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M645R	ENST00000376771.4	37	c.1934	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064799	0.55432	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.21734	1.99;1.99	5.05	5.05	0.67936	Rab-GAP/TBC domain (1);	0.550776	0.20730	N	0.086740	T	0.44726	0.1307	M	0.73962	2.25	0.49130	D	0.999751	D;D;D	0.61697	0.99;0.99;0.99	D;D;D	0.69142	0.962;0.962;0.962	T	0.43814	-0.9368	10	0.87932	D	0	-15.5816	11.7843	0.52032	0.0:0.0:0.0:1.0	.	649;587;645	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	R	645;391	ENSP00000365962:M645R;ENSP00000444091:M391R	ENSP00000365962:M645R	M	+	2	0	TBC1D25	48304174	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.434000	0.80377	1.684000	0.51022	0.356000	0.21956	ATG	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom		0.602	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	T	NM_002536		48419230	1	no_errors	ENST00000376771	ensembl	human	known	70_37	missense	SNP	1.000	G	G	48419230	T	G	48419230	3	3	191	1	0	0	0	0	1	0	0	0	15645	1464	51	5	1956	5	TBC1D25	23	48419230	Missense_Mutation	SNP	T	TCGA-RA-A741-01A-11D-A33O-09	45176451	48419230	106851330	86	36623										
TRO	7216	genome.wustl.edu	37	chrX	54949050	54949050	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	ggagcctggggcttcccttcCctccagatatacagactgag	11	13	0	3			TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chrX:54949050C>G	ENST00000173898.7	+	3	197	c.85C>G	c.(85-87)Cct>Gct	p.P29A	TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.P29A|TRO_ENST00000375022.4_Missense_Mutation_p.P29A|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	29					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTTCCCTTCCCTCCAGATAT	0.592																																																	0													40	39	39					X																	54949050		1915	4112	6027	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.85C>G	X.37:g.54949050C>G	ENSP00000173898:p.Pro29Ala		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P29A	ENST00000173898.7	37	c.85	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	C	1.552	-0.539060	0.04053	.	.	ENSG00000067445	ENST00000442098;ENST00000173898;ENST00000319167;ENST00000375022;ENST00000440759;ENST00000416704	T;T;T;T;T;T	0.44881	0.91;3.99;3.74;3.74;0.91;0.91	2.8	-0.881	0.10607	.	.	.	.	.	T	0.24890	0.0604	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.26876	0.162;0.162	B;B	0.28916	0.096;0.096	T	0.22208	-1.0223	9	0.40728	T	0.16	.	5.7918	0.18365	0.0:0.401:0.0:0.599	.	29;29	Q96SX2;Q12816	.;TROP_HUMAN	A	29	ENSP00000404645:P29A;ENSP00000173898:P29A;ENSP00000318278:P29A;ENSP00000364162:P29A;ENSP00000406574:P29A;ENSP00000404767:P29A	ENSP00000173898:P29A	P	+	1	0	TRO	54965775	0.996000	0.38824	0.016000	0.15963	0.133000	0.20885	0.386000	0.20702	-0.355000	0.08199	0.506000	0.49869	CCT	TRO	-	NULL		0.592	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	C	NM_016157		54949050	1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	0.013	G	G	54949050	C	G	54949050	3	3	191	1	0	0	0	0	1	0	0	0	16605	623	22	4	91	4	TRO	23	54949050	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	6529820	54949050	100321510	87	36624										
MAGEC2	51438	genome.wustl.edu	37	chrX	141290914	141290914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0568181818181818	5	0.107978913336068	2.0718954248366	3.72941176470588	1.86470588235294	0.316770186335404	0.563792808707049	0	gagaactgtggggcacctccCgatactccaggtaatgtccc	11	13	0	1	rs142943547		TCGA-RA-A741-01A-11D-A33O-09	TCGA-RA-A741-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	adc6fd47-b5a4-4db3-8431-0f1f6ec4b808	24106164-fe83-4734-ada3-bc3f28c07452	g.chrX:141290914C>T	ENST00000247452.3	-	3	1207	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	287	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.R287L(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACCTCCCGATACTCCAG	0.502										HNSCC(46;0.14)																																							1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	0,3835		0,0,1632,571	85	85	85		860	-1.2	0	X	dbSNP_134	85	2,6726		0,2,2426,1872	no	missense	MAGEC2	NM_016249.3	43	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	possibly-damaging	287/374	141290914	2,10561	2203	4300	6503	SO:0001583	missense	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.860G>A	X.37:g.141290914C>T	ENSP00000354660:p.Arg287Gln		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R287Q	ENST00000247452.3	37	c.860	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	4.832	0.154739	0.09236	0.0	2.97E-4	ENSG00000046774	ENST00000247452	T	0.05786	3.39	0.988	-1.17	0.09648	.	2.039640	0.04377	U	0.360087	T	0.06735	0.0172	L	0.49571	1.57	0.09310	N	1	P	0.38110	0.618	B	0.35114	0.196	T	0.31668	-0.9935	10	0.38643	T	0.18	.	3.9835	0.09504	0.0:0.4715:0.0:0.5285	.	287	Q9UBF1	MAGC2_HUMAN	Q	287	ENSP00000354660:R287Q	ENSP00000354660:R287Q	R	-	2	0	MAGEC2	141118580	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.787000	0.04618	-0.595000	0.05828	0.284000	0.19432	CGG	MAGEC2	-	pfam_MAGE,pfscan_MAGE		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	C	NM_016249		141290914	-1	no_errors	ENST00000247452	ensembl	human	known	70_37	missense	SNP	0.001	T	T	141290914	C	T	141290914	3	4	191	1	0	0	0	0	1	0	0	0	9204	652	23	2	265	2	MAGEC2	23	141290914	Missense_Mutation	SNP	C	TCGA-RA-A741-01A-11D-A33O-09	86341864	141290914	13979646	88	36625										
CPSF3L	54973	genome.wustl.edu	37	chr1	1255873	1255873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	caggaagtctgttaggcggcCgttctgggtgatgtaggaga	17	6	2	2			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:1255873C>T	ENST00000435064.1	-	3	245	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	CPSF3L_ENST00000450926.2_Missense_Mutation_p.G55S|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000545578.1_Missense_Mutation_p.G26S|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000540437.1_Missense_Mutation_p.G61S	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	55					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GTTAGGCGGCCGTTCTGGGTG	0.592																																																	0													183	183	183					1																	1255873		2203	4300	6503	SO:0001583	missense	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.163G>A	1.37:g.1255873C>T	ENSP00000413493:p.Gly55Ser		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.G61S	ENST00000435064.1	37	c.181	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.947375	0.73672	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	D;D;D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	4.73	4.73	0.59995	Beta-lactamase-like (2);	0.112312	0.64402	D	0.000011	D	0.86806	0.6021	M	0.75264	2.295	0.80722	D	1	P;D;D;P	0.65815	0.945;0.995;0.973;0.955	P;D;P;P	0.63283	0.606;0.913;0.606;0.727	D	0.84074	0.0381	10	0.08179	T	0.78	-37.3679	17.7038	0.88303	0.0:1.0:0.0:0.0	.	55;74;61;55	Q5TA45-3;Q5TA51;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	S	55;67;61;55;26;55;61;102;56;115	ENSP00000413493:G55S;ENSP00000445001:G61S;ENSP00000392848:G55S;ENSP00000444672:G26S;ENSP00000411233:G55S;ENSP00000436743:G61S;ENSP00000432009:G102S;ENSP00000435772:G56S;ENSP00000436824:G115S	ENSP00000294579:G67S	G	-	1	0	CPSF3L	1245736	1.000000	0.71417	0.925000	0.36789	0.166000	0.22503	7.576000	0.82467	2.153000	0.67306	0.651000	0.88453	GGC	CPSF3L	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like		0.592	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	C	NM_017871		1255873	-1	no_errors	ENST00000540437	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1255873	C	T	1255873	3	4	192	1	0	0	0	0	1	0	0	0	3832	652	23	2	1699	2	CPSF3L	1	1255873	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		1255873	247994748	1	36626										
SPEN	23013	genome.wustl.edu	37	chr1	16262320	16262320	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	tatactgtgccacgggatgtGaggatcatggtgcatccaca	12	9	1	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:16262320G>C	ENST00000375759.3	+	11	9789	c.9585G>C	c.(9583-9585)gtG>gtC	p.V3195V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3195					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACGGGATGTGAGGATCATGG	0.617																																																	0													75	68	70					1																	16262320		2203	4300	6503	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9585G>C	1.37:g.16262320G>C			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V3195	ENST00000375759.3	37	c.9585	CCDS164.1	1																																																																																			SPEN	-	NULL		0.617	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16262320	1	no_errors	ENST00000375759	ensembl	human	known	70_37	silent	SNP	0.789	C	C	16262320	G	C	16262320	2	2	192	1	0	0	0	0	0	0	0	1	15068	1277	45	1		1	SPEN	1	16262320	Silent	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09	15006447	16262320	232988301	2	36627										
SPEN	23013	genome.wustl.edu	37	chr1	16262663	16262663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ttcaagagtaccggtacggcGacatccgcacctaccacccc	8	17	1	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:16262663G>A	ENST00000375759.3	+	11	10132	c.9928G>A	c.(9928-9930)Gac>Aac	p.D3310N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3310	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGGTACGGCGACATCCGCAC	0.637																																																	0													80	81	81					1																	16262663		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9928G>A	1.37:g.16262663G>A	ENSP00000364912:p.Asp3310Asn		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D3310N	ENST00000375759.3	37	c.9928	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429752	0.62844	.	.	ENSG00000065526	ENST00000375759	T	0.09817	2.94	5.3	5.3	0.74995	.	.	.	.	.	T	0.31358	0.0794	M	0.63428	1.95	0.37606	D	0.920746	D	0.89917	1.0	D	0.73708	0.981	T	0.04029	-1.0983	9	0.34782	T	0.22	-21.3715	18.9555	0.92657	0.0:0.0:1.0:0.0	.	3310	Q96T58	MINT_HUMAN	N	3310	ENSP00000364912:D3310N	ENSP00000364912:D3310N	D	+	1	0	SPEN	16135250	1.000000	0.71417	0.936000	0.37596	0.959000	0.62525	8.223000	0.89779	2.465000	0.83290	0.655000	0.94253	GAC	SPEN	-	NULL		0.637	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16262663	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.970	A	A	16262663	G	A	16262663	3	1	192	1	0	0	0	0	1	0	0	0	15068	1058	37	1	9970	1	SPEN	1	16262663	Missense_Mutation	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09	343	16262663	232987958	3	36628										
HNRNPR	10236	genome.wustl.edu	37	chr1	23640111	23640111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	tttcaacttctttactctttCgagttttccaaattcagaaa	3	9	4	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:23640111C>T	ENST00000374612.1	-	9	1225	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	HNRNPR_ENST00000426846.2_Missense_Mutation_p.E208K|HNRNPR_ENST00000302271.6_Missense_Mutation_p.E368K|HNRNPR_ENST00000427764.2_Missense_Mutation_p.E330K|HNRNPR_ENST00000478691.1_Missense_Mutation_p.E270K|HNRNPR_ENST00000606561.1_Missense_Mutation_p.E229K|HNRNPR_ENST00000374616.3_Missense_Mutation_p.E371K|HNRNPR_ENST00000476660.1_5'Flank	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	368	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACTCTTTCGAGTTTTCCA	0.323																																																	0													71	76	74					1																	23640111		2201	4297	6498	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1102G>A	1.37:g.23640111C>T	ENSP00000363741:p.Glu368Lys		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E371K	ENST00000374612.1	37	c.1111	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.848777	0.97023	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	N	0.16708	0.43	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.996;0.999	D;D;D;D;D;D	0.87578	0.983;0.998;0.998;0.952;0.934;0.963	T	0.09058	-1.0692	10	0.87932	D	0	.	18.7377	0.91761	0.0:1.0:0.0:0.0	.	208;330;229;348;368;371	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	K	371;368;368;330;208	ENSP00000363745:E371K;ENSP00000363741:E368K;ENSP00000304405:E368K;ENSP00000392799:E330K;ENSP00000415042:E208K	ENSP00000304405:E368K	E	-	1	0	HNRNPR	23512698	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	6.082000	0.71318	2.774000	0.95407	0.585000	0.79938	GAA	HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.323	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	C	NM_005826		23640111	-1	no_errors	ENST00000374616	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23640111	C	T	23640111	3	4	192	1	0	0	0	0	1	0	0	0	7292	893	31	1	811	1	HNRNPR	1	23640111	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	7377448	23640111	225610510	4	36629										
IL12RB2	3595	genome.wustl.edu	37	chr1	67861460	67861460	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ccaagagctctccaagctgaGagcagacaactggtggatct	11	11	2	3	rs553975974	byFrequency	TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:67861460G>A	ENST00000262345.1	+	16	2917	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Silent_p.E673E	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	759					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCCAAGCTGAGAGCAGACAAC	0.577																																																	0													97	92	93					1																	67861460		2203	4300	6503	SO:0001819	synonymous_variant	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2277G>A	1.37:g.67861460G>A			B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E759	ENST00000262345.1	37	c.2277	CCDS638.1	1																																																																																			IL12RB2	-	NULL		0.577	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	G	NM_001559		67861460	1	no_errors	ENST00000262345	ensembl	human	known	70_37	silent	SNP	0.055	A	A	67861460	G	A	67861460	2	1	192	1	0	0	0	0	0	0	0	1	7647	933	33	1		1	IL12RB2	1	67861460	Silent	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09	44221349	67861460	181389161	5	36630										
KIAA1324	57535	genome.wustl.edu	37	chr1	109707183	109707183	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	agtcatgtaagccatgcgctGagggccgctactccctcggc	12	14	1	1	rs202054557		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:109707183G>C	ENST00000369939.3	+	3	520	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E113Q	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	113					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCCATGCGCTGAGGGCCGCTA	0.582																																																	0													125	118	120					1																	109707183		2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.337G>C	1.37:g.109707183G>C	ENSP00000358955:p.Glu113Gln		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.E113Q	ENST00000369939.3	37	c.337	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.426194	0.62733	.	.	ENSG00000116299	ENST00000531664;ENST00000534476;ENST00000526264;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.48;1.48;1.48	6.04	4.95	0.65309	.	0.278041	0.40728	N	0.001038	T	0.16557	0.0398	N	0.20685	0.6	0.23204	N	0.998123	B;B;B;B	0.32573	0.376;0.302;0.376;0.376	B;B;B;B	0.35607	0.168;0.165;0.146;0.206	T	0.08911	-1.0699	10	0.23891	T	0.37	-14.953	15.9284	0.79639	0.0757:0.0:0.9243:0.0	.	113;113;113;113	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	Q	113	ENSP00000431349:E113Q;ENSP00000432164:E113Q;ENSP00000435066:E113Q;ENSP00000358955:E113Q;ENSP00000393964:E113Q;ENSP00000434595:E113Q	ENSP00000358955:E113Q	E	+	1	0	KIAA1324	109508706	1.000000	0.71417	0.972000	0.41901	0.947000	0.59692	6.617000	0.74210	2.873000	0.98535	0.561000	0.74099	GAG	KIAA1324	-	superfamily_Growth_fac_rcpt		0.582	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	G	NM_020775		109707183	1	no_errors	ENST00000369939	ensembl	human	known	70_37	missense	SNP	0.993	C	C	109707183	G	C	109707183	3	2	192	1	0	0	0	0	1	0	0	0	8243	1291	45	1	347	1	KIAA1324	1	109707183	Missense_Mutation	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09	41845723	109707183	139543438	6	36631										
C1orf69	200205	genome.wustl.edu	37	chr1	228363051	228363051	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	tgccacggtgctgactgcctCaggacagactgtgggcaagt	14	11	1	2			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:228363051C>T	ENST00000366711.3	+	3	910	c.908C>T	c.(907-909)tCa>tTa	p.S303L	IBA57_ENST00000546123.1_Missense_Mutation_p.S110L|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	303					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTGACTGCCTCAGGACAGACT	0.632																																																	0													53	52	52					1																	228363051		2203	4300	6503	SO:0001583	missense	200205			AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.908C>T	1.37:g.228363051C>T	ENSP00000355672:p.Ser303Leu			Missense_Mutation	SNP	pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS	p.S303L	ENST00000366711.3	37	c.908	CCDS31046.1	1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398560	0.42512	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.77229	-1.08;-1.08	5.07	4.15	0.48705	Glycine cleavage T-protein, C-terminal barrel (1);	0.597239	0.17253	N	0.181063	T	0.78817	0.4343	M	0.74546	2.27	0.09310	N	1	B	0.17038	0.02	B	0.24701	0.055	T	0.70876	-0.4753	10	0.51188	T	0.08	-7.384	14.9537	0.71094	0.1441:0.8559:0.0:0.0	.	303	Q5T440	CAF17_HUMAN	L	303;110	ENSP00000355672:S303L;ENSP00000437347:S110L	ENSP00000355672:S303L	S	+	2	0	IBA57	226429674	0.164000	0.22935	0.006000	0.13384	0.002000	0.02628	4.252000	0.58785	1.346000	0.45694	-0.188000	0.12872	TCA	IBA57	-	pfam_GCV_T_C		0.632	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBA57	HGNC	protein_coding	OTTHUMT00000095980.1	C	NM_001010867		228363051	1	no_errors	ENST00000366711	ensembl	human	known	70_37	missense	SNP	0.007	T	T	228363051	C	T	228363051	3	4	192	1	0	0	0	0	1	0	0	0	2062	838	29	1	918	1	C1orf69	1	228363051	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	118655868	228363051	20887570	7	36632										
KLRAQ1	129285	genome.wustl.edu	37	chr2	48725635	48725635	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ctctgttacttttcaaggttCaacagagtttggaaaagatt	8	6	3	2			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr2:48725635C>T	ENST00000294952.8	+	17	1853	c.1696C>T	c.(1696-1698)Caa>Taa	p.Q566*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Q566*|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Q535*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	566						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTTCAAGGTTCAACAGAGTTT	0.368																																																	0													53	55	54					2																	48725635		2203	4300	6503	SO:0001587	stop_gained	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1696C>T	2.37:g.48725635C>T	ENSP00000294952:p.Gln566*		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RNR-like	p.Q566*	ENST00000294952.8	37	c.1696	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.594615	0.96602	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.87	5.87	0.94306	.	0.053255	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3917	20.2182	0.98305	0.0:1.0:0.0:0.0	.	.	.	.	X	566;566;535	.	ENSP00000281394:Q566X	Q	+	1	0	KLRAQ1	48579139	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.555000	0.73928	2.785000	0.95823	0.655000	0.94253	CAA	PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C		0.368	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	C	NM_152994		48725635	1	no_errors	ENST00000294952	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	48725635	C	T	48725635	4	4	192	1	0	0	0	0	0	1	0	0	8433	827	29	1	1762	1	KLRAQ1	2	48725635	Nonsense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		48725635	194473738	8	36633										
UGT1A6	54578	genome.wustl.edu	37	chr2	234602059	234602059	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	tgcaggacagggacaccctgAacttctttaaggagagcaag	12	9	1	2			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr2:234602059A>T	ENST00000305139.6	+	1	548	c.409A>T	c.(409-411)Aac>Tac	p.N137Y	UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000406651.1_5'Flank|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	137					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGACACCCTGAACTTCTTTAA	0.488																																																	0													101	82	89					2																	234602059		2203	4300	6503	SO:0001583	missense	54578			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.409A>T	2.37:g.234602059A>T	ENSP00000303174:p.Asn137Tyr		A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.N137Y	ENST00000305139.6	37	c.409	CCDS2507.1	2	.	.	.	.	.	.	.	.	.	.	A	8.644	0.896581	0.17686	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.06933	3.24;3.24	5.31	-3.15	0.05233	.	.	.	.	.	T	0.06690	0.0171	N	0.25890	0.77	0.09310	N	1	B;B	0.23937	0.094;0.045	B;B	0.30716	0.119;0.041	T	0.42292	-0.9460	9	0.72032	D	0.01	.	8.4146	0.32664	0.3445:0.5148:0.1408:0.0	.	137;137	B8K289;P19224	.;UD16_HUMAN	Y	137	ENSP00000389637:N137Y;ENSP00000303174:N137Y	ENSP00000303174:N137Y	N	+	1	0	UGT1A6	234266798	0.000000	0.05858	0.004000	0.12327	0.212000	0.24457	-1.214000	0.02988	-0.727000	0.04888	-0.313000	0.08912	AAC	UGT1A6	-	pfam_UDP_glucos_trans		0.488	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	A	NM_205862		234602059	1	no_errors	ENST00000305139	ensembl	human	known	70_37	missense	SNP	0.001	T	T	234602059	A	T	234602059	3	4	192	1	0	0	0	0	1	0	0	0	16980	246	9	5	411	5	UGT1A6	2	234602059	Missense_Mutation	SNP	A	TCGA-UC-A7PD-01A-11D-A351-09	185876424	234602059	8597314	9	36634										
COL7A1	1294	genome.wustl.edu	37	chr3	48626419	48626419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	gcctcgacacacgacccacaGgctcaggggctggggacaga	14	14	1	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr3:48626419G>T	ENST00000328333.8	-	18	2431	c.2324C>A	c.(2323-2325)cCt>cAt	p.P775H	COL7A1_ENST00000454817.1_Missense_Mutation_p.P775H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	775	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACGACCCACAGGCTCAGGGGC	0.587																																																	0													70	70	70					3																	48626419		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2324C>A	3.37:g.48626419G>T	ENSP00000332371:p.Pro775His		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P775H	ENST00000328333.8	37	c.2324	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286814	0.23478	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.89485	-2.52;-2.52	5.08	3.08	0.35506	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.430293	0.16955	N	0.192707	T	0.79730	0.4496	L	0.31065	0.9	0.30919	N	0.728234	B	0.21821	0.061	B	0.18263	0.021	T	0.71394	-0.4606	10	0.21540	T	0.41	.	7.698	0.28606	0.0:0.1807:0.6326:0.1867	.	775	Q02388	CO7A1_HUMAN	H	775	ENSP00000332371:P775H;ENSP00000412569:P775H	ENSP00000332371:P775H	P	-	2	0	COL7A1	48601423	0.922000	0.31269	0.428000	0.26697	0.913000	0.54294	1.194000	0.32174	1.216000	0.43427	0.462000	0.41574	CCT	COL7A1	-	pfscan_Fibronectin_type3		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48626419	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.857	T	T	48626419	G	T	48626419	3	4	192	1	0	0	0	0	1	0	0	0	3709	1000	35	4	6914	4	COL7A1	3	48626419	Missense_Mutation	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09		48626419	149396011	10	36635										
C3orf67	200844	genome.wustl.edu	37	chr3	58849304	58849304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ctcttcactgctgtcgccgcCgtaaaaatcatcctctgatt	6	14	4	1	rs369398734		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr3:58849304C>T	ENST00000482387.1	-	8	1294	c.1198G>A	c.(1198-1200)Ggc>Agc	p.G400S	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.G400S|C3orf67_ENST00000472469.1_Missense_Mutation_p.G307S|RP11-147N17.1_ENST00000482372.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	400										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGTCGCCGCCGTAAAAATCA	0.428																																																	0								C	SER/GLY	0,4406		0,0,2203	70	64	66		1198	0.6	0	3		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf67	NM_198463.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	400/564	58849304	1,13005	2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1198G>A	3.37:g.58849304C>T	ENSP00000417122:p.Gly400Ser		B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.G400S	ENST00000482387.1	37	c.1198		3	.	.	.	.	.	.	.	.	.	.	C	6.629	0.484593	0.12641	0.0	1.16E-4	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.47869	1.54;1.87;0.83	5.41	0.623	0.17654	.	0.340874	0.30011	N	0.010627	T	0.42720	0.1215	L	0.58810	1.83	0.18873	N	0.999988	D;P;D	0.59357	0.985;0.641;0.967	B;B;B	0.44133	0.225;0.065;0.442	T	0.39542	-0.9609	10	0.51188	T	0.08	-2.0645	10.0172	0.42022	0.0:0.6718:0.0:0.3281	.	307;400;400	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	S	400;400;105;307	ENSP00000295966:G400S;ENSP00000417122:G400S;ENSP00000417271:G307S	ENSP00000295966:G400S	G	-	1	0	C3orf67	58824344	0.002000	0.14202	0.002000	0.10522	0.012000	0.07955	0.556000	0.23438	-0.100000	0.12241	-0.742000	0.03525	GGC	C3orf67	-	NULL		0.428	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	C	NM_198463		58849304	-1	no_errors	ENST00000482387	ensembl	human	known	70_37	missense	SNP	0.028	T	T	58849304	C	T	58849304	3	4	192	1	0	0	0	0	1	0	0	0	2246	652	23	2	513	2	C3orf67	3	58849304	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	10222885	58849304	139173126	11	36636										
TERT	7015	genome.wustl.edu	37	chr5	1293768	1293768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	gcagctcgcagcgggcagtgCgtcttgaggagcaccccgta	15	13	1	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr5:1293768C>T	ENST00000310581.5	-	2	1290	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	TERT_ENST00000522877.1_5'Flank|TERT_ENST00000334602.6_Silent_p.T411T|TERT_ENST00000296820.5_Silent_p.T411T|TERT_ENST00000508104.2_Silent_p.T411T	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	411	CP motif.|QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCGGGCAGTGCGTCTTGAGGA	0.701									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0													8	10	9					5																	1293768		2140	4231	6371	SO:0001819	synonymous_variant	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1233G>A	5.37:g.1293768C>T			O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.T411	ENST00000310581.5	37	c.1233	CCDS3861.2	5																																																																																			TERT	-	NULL		0.701	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2	C			1293768	-1	no_errors	ENST00000310581	ensembl	human	known	70_37	silent	SNP	0.002	T	T	1293768	C	T	1293768	2	4	192	1	0	0	0	0	0	0	0	1	15794	755	27	2		2	TERT	5	1293768	Silent	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		1293768	179621492	12	36637										
PRDM9	56979	genome.wustl.edu	37	chr5	23526850	23526850	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	acacatacaggggagaagctCtacgtctgcagggagtgtgg	15	8	2	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr5:23526850C>G	ENST00000296682.3	+	11	1835	c.1653C>G	c.(1651-1653)ctC>ctG	p.L551L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	551					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCTCTACGTCTGCA	0.488										HNSCC(3;0.000094)																																							0													86	92	90					5																	23526850		2170	4292	6462	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1653C>G	5.37:g.23526850C>G			B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L551	ENST00000296682.3	37	c.1653	CCDS43307.1	5																																																																																			PRDM9	-	pfscan_Znf_C2H2		0.488	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	C	NM_020227		23526850	1	no_errors	ENST00000296682	ensembl	human	known	70_37	silent	SNP	0.733	G	G	23526850	C	G	23526850	2	3	192	1	0	0	0	0	0	0	0	1	12490	900	32	1		1	PRDM9	5	23526850	Silent	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	22233082	23526850	157388410	13	36638										
ADAMTS19	171019	genome.wustl.edu	37	chr5	129037232	129037232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ccaagcccgcctctgcccagCgctgtgagggccaggactgc	13	17	1	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr5:129037232C>T	ENST00000274487.4	+	20	3233	c.3088C>T	c.(3088-3090)Cgc>Tgc	p.R1030C	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1030	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTCTGCCCAGCGCTGTGAGGG	0.592																																																	0													75	68	71					5																	129037232		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3088C>T	5.37:g.129037232C>T	ENSP00000274487:p.Arg1030Cys			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1030C	ENST00000274487.4	37	c.3088	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519990	0.64634	.	.	ENSG00000145808	ENST00000274487	T	0.52983	0.64	4.0	3.13	0.36017	.	0.209202	0.33712	N	0.004637	T	0.59715	0.2214	M	0.70842	2.15	0.58432	D	0.999991	D	0.69078	0.997	P	0.57548	0.823	T	0.62891	-0.6758	9	.	.	.	.	12.6115	0.56554	0.0:0.9173:0.0:0.0827	.	1030	Q8TE59	ATS19_HUMAN	C	1030	ENSP00000274487:R1030C	.	R	+	1	0	ADAMTS19	129065131	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.356000	0.44116	1.273000	0.44346	0.650000	0.86243	CGC	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.592	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	C	NM_133638		129037232	1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	T	T	129037232	C	T	129037232	3	4	192	1	0	0	0	0	1	0	0	0	264	768	27	2	3166	2	ADAMTS19	5	129037232	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	105510382	129037232	51878028	14	36639										
LY96	23643	genome.wustl.edu	37	chr8	74939045	74939045	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	gactgtgaatacaacaatatCattctccttcaagggaataa	6	8	3	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr8:74939045C>T	ENST00000284818.2	+	4	444	c.353C>T	c.(352-354)tCa>tTa	p.S118L	LY96_ENST00000518893.1_Missense_Mutation_p.S88L	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	118					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ACAACAATATCATTCTCCTTC	0.308																																					GBM(131;1357 1748 34893 50149 52212)												0													85	82	83					8																	74939045		2203	4298	6501	SO:0001583	missense	23643			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.353C>T	8.37:g.74939045C>T	ENSP00000284818:p.Ser118Leu		B3Y6A5|E5RJJ7	Missense_Mutation	SNP	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog	p.S118L	ENST00000284818.2	37	c.353	CCDS6216.1	8	.	.	.	.	.	.	.	.	.	.	C	2.626	-0.287394	0.05605	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.49432	0.78;0.78	3.64	-1.8	0.07907	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	1.041270	0.07581	N	0.920262	T	0.36936	0.0985	L	0.44542	1.39	0.09310	N	1	B	0.29378	0.243	B	0.24701	0.055	T	0.36962	-0.9726	10	0.87932	D	0	9.4925	7.7333	0.28799	0.2971:0.2661:0.4368:0.0	.	118	Q9Y6Y9	LY96_HUMAN	L	118;88	ENSP00000284818:S118L;ENSP00000430533:S88L	ENSP00000284818:S118L	S	+	2	0	LY96	75101599	0.002000	0.14202	0.012000	0.15200	0.001000	0.01503	-0.195000	0.09546	-0.390000	0.07774	-0.181000	0.13052	TCA	LY96	-	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog		0.308	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY96	HGNC	protein_coding	OTTHUMT00000379032.2	C	NM_015364		74939045	1	no_errors	ENST00000284818	ensembl	human	known	70_37	missense	SNP	0.014	T	T	74939045	C	T	74939045	3	4	192	1	0	0	0	0	1	0	0	0	9125	838	29	1	367	1	LY96	8	74939045	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		74939045	71424977	15	36640										
PTPRD	5789	genome.wustl.edu	37	chr9	8486257	8486257	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	aaattttagacggtagccctGaagaggtccaaatgtgtcca	10	8	0	3			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:8486257G>A	ENST00000381196.4	-	25	3103	c.2560C>T	c.(2560-2562)Cag>Tag	p.Q854*	PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q854*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q854*|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q841*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q832*|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	854	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGGTAGCCCTGAAGAGGTCCA	0.468										TSP Lung(15;0.13)																																							0													71	73	72					9																	8486257		2203	4300	6503	SO:0001587	stop_gained	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2560C>T	9.37:g.8486257G>A	ENSP00000370593:p.Gln854*		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.Q854*	ENST00000381196.4	37	c.2560	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.201651	0.98704	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	.	.	.	5.93	5.93	0.95920	.	0.205916	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1109	0.72355	0.0:0.0:0.8586:0.1414	.	.	.	.	X	854;854;841;832;854	.	.	Q	-	1	0	PTPRD	8476257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.507000	0.66999	2.826000	0.97356	0.655000	0.94253	CAG	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	G			8486257	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	8486257	G	A	8486257	4	1	192	1	0	0	0	0	0	1	0	0	12829	1299	45	1	3322	1	PTPRD	9	8486257	Nonsense_Mutation	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09		8486257	132727174	16	36641										
DOLK	22845	genome.wustl.edu	37	chr9	131708402	131708402	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	tgtctcgttcatccagaaaaAgggacaggaagctccgtaga	11	9	2	2			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:131708402A>T	ENST00000372586.3	-	1	1496	c.1181T>A	c.(1180-1182)cTt>cAt	p.L394H	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	394					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						ATCCAGAAAAAGGGACAGGAA	0.547																																																	0													110	107	108					9																	131708402		2203	4300	6503	SO:0001583	missense	22845			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1181T>A	9.37:g.131708402A>T	ENSP00000361667:p.Leu394His		Q5SRE6	Missense_Mutation	SNP	NULL	p.L394H	ENST00000372586.3	37	c.1181	CCDS6915.1	9	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498631	0.64298	.	.	ENSG00000175283	ENST00000372586	T	0.50548	0.74	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000007	T	0.61640	0.2363	L	0.48362	1.52	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.64782	-0.6326	10	0.72032	D	0.01	-20.1235	14.2247	0.65850	1.0:0.0:0.0:0.0	.	394	Q9UPQ8	DOLK_HUMAN	H	394	ENSP00000361667:L394H	ENSP00000361667:L394H	L	-	2	0	DOLK	130748223	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.905000	0.92613	2.006000	0.58801	0.379000	0.24179	CTT	DOLK	-	NULL		0.547	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	HGNC	protein_coding	OTTHUMT00000054515.1	A	NM_014908		131708402	-1	no_errors	ENST00000372586	ensembl	human	known	70_37	missense	SNP	1.000	T	T	131708402	A	T	131708402	3	4	192	1	0	0	0	0	1	0	0	0	4713	72	3	5	439	5	DOLK	9	131708402	Missense_Mutation	SNP	A	TCGA-UC-A7PD-01A-11D-A351-09	123222145	131708402	9505029	17	36642										
NTNG2	84628	genome.wustl.edu	37	chr9	135102404	135102404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ctgccccatggctctcccaaCgcctgtacgtgccatgcccc	8	20	1	0	rs201475380		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:135102404C>T	ENST00000393229.3	+	4	1802	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N	NTNG2_ENST00000393228.4_Silent_p.N342N|NTNG2_ENST00000372179.3_Silent_p.N342N|NTNG2_ENST00000360670.3_Silent_p.N342N	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	342	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCTCTCCCAACGCCTGTACGT	0.637																																																	0													25	24	24					9																	135102404		2203	4298	6501	SO:0001819	synonymous_variant	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1026C>T	9.37:g.135102404C>T			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.N342	ENST00000393229.3	37	c.1026	CCDS6946.1	9																																																																																			NTNG2	-	smart_EGF_laminin		0.637	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	C	NM_032536		135102404	1	no_errors	ENST00000360670	ensembl	human	known	70_37	silent	SNP	0.963	T	T	135102404	C	T	135102404	2	4	192	1	0	0	0	0	0	0	0	1	10729	535	19	2		2	NTNG2	9	135102404	Silent	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	3394002	135102404	6111027	18	36643										
CACNA1B	774	genome.wustl.edu	37	chr9	140901276	140901276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	acgggatcgaatcgcaaggcGgcgtcagcaaaggcatgttc	14	10	1	0			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:140901276G>A	ENST00000371372.1	+	16	2177	c.2032G>A	c.(2032-2034)Ggc>Agc	p.G678S	CACNA1B_ENST00000277551.2_Missense_Mutation_p.G678S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G678S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G679S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G679S|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	678					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCGCAAGGCGGCGTCAGCAA	0.567																																																	0													155	155	155					9																	140901276		2144	4257	6401	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2032G>A	9.37:g.140901276G>A	ENSP00000360423:p.Gly678Ser		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.G679S	ENST00000371372.1	37	c.2035	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299970	0.81136	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96967	-4.18;-4.19;-4.17;-4.16;-4.16	4.39	4.39	0.52855	.	0.118515	0.56097	D	0.000024	D	0.97504	0.9183	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98225	1.0480	10	0.66056	D	0.02	.	16.097	0.81132	0.0:0.0:1.0:0.0	.	678;678	B1AQK4;B1AQK6	.;.	S	678;678;678;679;679	ENSP00000360423:G678S;ENSP00000277551:G678S;ENSP00000360414:G678S;ENSP00000360408:G679S;ENSP00000360406:G679S	ENSP00000277551:G678S	G	+	1	0	CACNA1B	140021097	1.000000	0.71417	0.988000	0.46212	0.920000	0.55202	9.217000	0.95160	2.156000	0.67533	0.491000	0.48974	GGC	CACNA1B	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140901276	1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	A	A	140901276	G	A	140901276	3	1	192	1	0	0	0	0	1	0	0	0	2544	1116	39	2	2094	2	CACNA1B	9	140901276	Missense_Mutation	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09	5798872	140901276	312155	19	36644										
ARMC3	219681	genome.wustl.edu	37	chr10	23295873	23295873	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	gcttacaagaaccaagtgacCtacgggctgtactcttaatc	8	11	1	2			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr10:23295873C>G	ENST00000298032.5	+	14	1876	c.1792C>G	c.(1792-1794)Cta>Gta	p.L598V	ARMC3_ENST00000409049.3_Missense_Mutation_p.L598V|ARMC3_ENST00000376528.4_Missense_Mutation_p.L335V|ARMC3_ENST00000409983.3_Missense_Mutation_p.L598V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	598						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACCAAGTGACCTACGGGCTGT	0.448																																																	0													126	121	123					10																	23295873		2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1792C>G	10.37:g.23295873C>G	ENSP00000298032:p.Leu598Val		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L598V	ENST00000298032.5	37	c.1792	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092065	0.36952	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.37752	1.2;1.2;1.18;2.43	5.66	4.76	0.60689	.	0.860857	0.10334	N	0.687193	T	0.33323	0.0859	L	0.36672	1.1	0.09310	N	1	B;B	0.26081	0.141;0.116	B;B	0.28305	0.088;0.026	T	0.27297	-1.0078	10	0.48119	T	0.1	-9.9163	12.6184	0.56590	0.0:0.9227:0.0:0.0773	.	598;598	Q5W041-4;Q5W041	.;ARMC3_HUMAN	V	598;598;534;598;335	ENSP00000298032:L598V;ENSP00000386943:L598V;ENSP00000387288:L598V;ENSP00000365711:L335V	ENSP00000298032:L598V	L	+	1	2	ARMC3	23335879	0.398000	0.25279	0.036000	0.18154	0.963000	0.63663	2.940000	0.49003	1.400000	0.46741	-0.140000	0.14226	CTA	ARMC3	-	NULL		0.448	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	C	NM_173081		23295873	1	no_errors	ENST00000298032	ensembl	human	known	70_37	missense	SNP	0.112	G	G	23295873	C	G	23295873	3	3	192	1	0	0	0	0	1	0	0	0	953	680	24	4	1842	4	ARMC3	10	23295873	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		23295873	112238874	20	36645										
PNLIPRP2	5408	genome.wustl.edu	37	chr10	118404588	118404588	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ctgtggaagaaaacgtcttgCaatctctttacccttgttaa	7	9	2	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr10:118404588C>T	ENST00000298771.7	+	0	1415				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAACGTCTTGCAATCTCTTTA	0.408																																																	0													94	93	93					10																	118404588		1883	4116	5999			5408			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118404588C>T			A8K627|Q6IB55	Nonsense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.Q463*	ENST00000298771.7	37	c.1387		10	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432344	0.83776	.	.	ENSG00000165862	ENST00000537242	.	.	.	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.21802	N	0.999536	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	15.8227	0.78673	0.0:1.0:0.0:0.0	.	.	.	.	X	463	.	ENSP00000446346:Q463X	Q	+	1	0	PNLIPRP2	118394578	0.535000	0.26370	0.050000	0.19076	0.410000	0.31052	4.041000	0.57339	2.472000	0.83506	0.650000	0.86243	CAA	PNLIPRP2	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc		0.408	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	HGNC	polymorphic_pseudogene	OTTHUMT00000050546.6	C	NM_005396		118404588	1	no_errors	ENST00000537242	ensembl	human	known	70_37	nonsense	SNP	0.391	T	T	118404588	C	T	118404588	1	4	192	0	1	0	0	0	0	0	0	0	12175	711	25	4		4	PNLIPRP2	10	118404588	RNA	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	95108715	118404588	17130159	21	36646										
PANX3	116337	genome.wustl.edu	37	chr11	124489214	124489214	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ctcggaaagaacgatactttGaattccctttgctagagcgg	10	9	0	3			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr11:124489214G>A	ENST00000284288.2	+	4	629	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	188					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACGATACTTTGAATTCCCTTT	0.493																																																	0													133	107	116					11																	124489214		2201	4299	6500	SO:0001583	missense	116337			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.562G>A	11.37:g.124489214G>A	ENSP00000284288:p.Glu188Lys			Missense_Mutation	SNP	pfam_Innexin,pfscan_Innexin	p.E188K	ENST00000284288.2	37	c.562	CCDS8447.1	11	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283567	0.59867	.	.	ENSG00000154143	ENST00000284288	T	0.16743	2.32	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.28344	0.845	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.01460	-1.1349	10	0.02654	T	1	-12.6804	18.5796	0.91166	0.0:0.0:1.0:0.0	.	188	Q96QZ0	PANX3_HUMAN	K	188	ENSP00000284288:E188K	ENSP00000284288:E188K	E	+	1	0	PANX3	123994424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.234000	0.95347	2.401000	0.81631	0.561000	0.74099	GAA	PANX3	-	pfam_Innexin,pfscan_Innexin		0.493	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX3	HGNC	protein_coding	OTTHUMT00000387064.1	G			124489214	1	no_errors	ENST00000284288	ensembl	human	known	70_37	missense	SNP	1.000	A	A	124489214	G	A	124489214	3	1	192	1	0	0	0	0	1	0	0	0	11446	1291	45	1	576	1	PANX3	11	124489214	Missense_Mutation	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09		124489214	10517302	22	36647										
CNOT1	23019	genome.wustl.edu	37	chr16	58622718	58622718	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	aatacctgatggaaatctttGccactgcttttaccatcgcc	6	12	1	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr16:58622718G>C	ENST00000317147.5	-	3	527	c.195C>G	c.(193-195)ggC>ggG	p.G65G	CNOT1_ENST00000441024.2_Silent_p.G65G|CNOT1_ENST00000569240.1_Silent_p.G65G	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	65					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGAAATCTTTGCCACTGCTTT	0.423																																																	0													84	71	75					16																	58622718		2198	4300	6498	SO:0001819	synonymous_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.195C>G	16.37:g.58622718G>C			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.G65	ENST00000317147.5	37	c.195	CCDS10799.1	16																																																																																			CNOT1	-	NULL		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	G	NM_016284		58622718	-1	no_errors	ENST00000317147	ensembl	human	known	70_37	silent	SNP	1.000	C	C	58622718	G	C	58622718	2	2	192	1	0	0	0	0	0	0	0	1	3622	1306	46	4		4	CNOT1	16	58622718	Silent	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09		58622718	31732035	23	36648										
USP43	124739	genome.wustl.edu	37	chr17	9549282	9549282	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	aaccacggcaacacctgtttCatgaacgcggtggtgcagtg	12	11	1	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr17:9549282C>T	ENST00000285199.7	+	1	429	c.333C>T	c.(331-333)ttC>ttT	p.F111F	RP11-55L4.2_ENST00000584676.1_RNA|USP43_ENST00000570475.1_Silent_p.F111F|USP43_ENST00000570827.2_Intron|RP11-55L4.1_ENST00000572923.1_RNA	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	111	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ACACCTGTTTCATGAACGCGG	0.731																																																	0													4	5	5					17																	9549282		1814	3891	5705	SO:0001819	synonymous_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.333C>T	17.37:g.9549282C>T			A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F111	ENST00000285199.7	37	c.333	CCDS45610.1	17																																																																																			USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.731	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9549282	1	no_errors	ENST00000285199	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9549282	C	T	9549282	2	4	192	1	0	0	0	0	0	0	0	1	17105	825	29	1		1	USP43	17	9549282	Silent	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		9549282	71645928	24	36649										
BPTF	2186	genome.wustl.edu	37	chr17	65888007	65888007	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	acggggagctaagtgaatctCctggagctggaaaaggagca	15	7	1	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr17:65888007C>G	ENST00000321892.4	+	7	2351	c.2290C>G	c.(2290-2292)Cct>Gct	p.P764A	BPTF_ENST00000424123.3_Missense_Mutation_p.P625A|BPTF_ENST00000335221.5_Missense_Mutation_p.P764A|BPTF_ENST00000306378.6_Missense_Mutation_p.P638A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	764					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTGAATCTCCTGGAGCTGG	0.448																																																	0													73	71	72					17																	65888007		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2290C>G	17.37:g.65888007C>G	ENSP00000315454:p.Pro764Ala		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P764A	ENST00000321892.4	37	c.2290		17	.	.	.	.	.	.	.	.	.	.	C	5.023	0.190021	0.09547	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.61510	0.12;0.1;0.11	5.25	5.25	0.73442	.	.	.	.	.	T	0.44746	0.1308	N	0.17082	0.46	0.27626	N	0.948182	B;P;P	0.47350	0.074;0.775;0.894	B;B;P	0.46718	0.016;0.313;0.525	T	0.17776	-1.0358	9	0.09338	T	0.73	-2.6651	12.5497	0.56220	0.0:0.9235:0.0:0.0765	.	764;638;764	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	A	669;638;764;764;562	ENSP00000307208:P638A;ENSP00000334351:P764A;ENSP00000315454:P764A	ENSP00000307208:P638A	P	+	1	0	BPTF	63318469	0.814000	0.29104	0.997000	0.53966	0.020000	0.10135	1.880000	0.39628	2.585000	0.87301	0.655000	0.94253	CCT	BPTF	-	NULL		0.448	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65888007	1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.722	G	G	65888007	C	G	65888007	3	3	192	1	0	0	0	0	1	0	0	0	1498	855	30	1	2316	1	BPTF	17	65888007	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	56338725	65888007	15307203	25	36650										
SEC14L1	6397	genome.wustl.edu	37	chr17	75186956	75186956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	agtgacactgtgaatgaattCaagagcgaagatggggctat	13	5	1	5			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr17:75186956C>G	ENST00000413679.2	+	4	438	c.135C>G	c.(133-135)ttC>ttG	p.F45L	SEC14L1_ENST00000591437.1_Missense_Mutation_p.F11L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.F45L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.F45L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.F11L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.F45L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.F45L|SEC14L1_ENST00000430767.4_Missense_Mutation_p.F45L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	45	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGAATGAATTCAAGAGCGAAG	0.453																																																	0													102	94	96					17																	75186956		2203	4300	6503	SO:0001583	missense	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.135C>G	17.37:g.75186956C>G	ENSP00000394716:p.Phe45Leu		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.F45L	ENST00000413679.2	37	c.135	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	C	9.668	1.145905	0.21288	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.07	-1.27	0.09347	PRELI/MSF1 (2);	0.233989	0.44285	D	0.000469	T	0.09247	0.0228	N	0.22421	0.69	0.09310	N	0.999992	B;B	0.13594	0.007;0.008	B;B	0.19946	0.016;0.027	T	0.39231	-0.9624	10	0.13853	T	0.58	-38.9713	10.6739	0.45774	0.0:0.4755:0.0:0.5245	.	45;45	Q92503-2;Q92503	.;S14L1_HUMAN	L	45;45;45;45;45;11	ENSP00000376268:F45L;ENSP00000406030:F45L;ENSP00000390392:F45L;ENSP00000408169:F45L;ENSP00000394716:F45L;ENSP00000389838:F11L	ENSP00000376268:F45L	F	+	3	2	SEC14L1	72698551	0.029000	0.19370	0.914000	0.36105	0.982000	0.71751	-0.308000	0.08156	-0.017000	0.14103	0.591000	0.81541	TTC	SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.453	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	C	NM_003003		75186956	1	no_errors	ENST00000392476	ensembl	human	known	70_37	missense	SNP	0.045	G	G	75186956	C	G	75186956	3	3	192	1	0	0	0	0	1	0	0	0	14011	825	29	1	141	1	SEC14L1	17	75186956	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	9298949	75186956	6008254	26	36651										
HRC	3270	genome.wustl.edu	37	chr19	49656716	49656716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	gcacctccagcctcctctctCctgtccagtgggttggggat	11	15	1	0	rs150390369		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr19:49656716C>A	ENST00000252825.4	-	1	1965	c.1779G>T	c.(1777-1779)agG>agT	p.R593S	HRC_ENST00000595625.1_Missense_Mutation_p.R593S	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	593					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCTCCTCTCTCCTGTCCAGTG	0.642																																					Melanoma(37;75 1097 24567 25669 30645)												0													54	48	50					19																	49656716		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1779G>T	19.37:g.49656716C>A	ENSP00000252825:p.Arg593Ser		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.R593S	ENST00000252825.4	37	c.1779	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	0.402	-0.917639	0.02396	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.41400	1.0	2.87	-0.888	0.10583	.	.	.	.	.	T	0.23806	0.0576	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.09590	T	0.72	3.6151	3.3909	0.07289	0.4486:0.4141:0.0:0.1372	.	593	P23327	SRCH_HUMAN	S	593;283	ENSP00000252825:R593S	ENSP00000252825:R593S	R	-	3	2	HRC	54348528	0.001000	0.12720	0.023000	0.16930	0.149000	0.21700	-0.187000	0.09656	-0.065000	0.13021	-0.253000	0.11424	AGG	HRC	-	NULL		0.642	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49656716	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.084	A	A	49656716	C	A	49656716	3	1	192	1	0	0	0	0	1	0	0	0	7372	854	30	3	344	3	HRC	19	49656716	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		49656716	9472267	27	36652										
HRC	3270	genome.wustl.edu	37	chr19	49657150	49657150	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	tctttgaccatggccagtttCttcatcttggtggctttgcc	9	11	4	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr19:49657150C>G	ENST00000252825.4	-	1	1531	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	HRC_ENST00000595625.1_Missense_Mutation_p.E449Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	449					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGCCAGTTTCTTCATCTTGG	0.552																																					Melanoma(37;75 1097 24567 25669 30645)												0													127	112	117					19																	49657150		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1345G>C	19.37:g.49657150C>G	ENSP00000252825:p.Glu449Gln		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E449Q	ENST00000252825.4	37	c.1345	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469597	0.04445	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.47528	0.84	3.18	0.886	0.19194	.	.	.	.	.	T	0.24851	0.0603	N	0.22421	0.69	0.09310	N	1	B	0.33073	0.396	B	0.26202	0.067	T	0.12863	-1.0531	9	0.21540	T	0.41	-0.7327	3.8175	0.08821	0.238:0.6239:0.0:0.138	.	449	P23327	SRCH_HUMAN	Q	449;148;419	ENSP00000252825:E449Q	ENSP00000252825:E449Q	E	-	1	0	HRC	54348962	0.000000	0.05858	0.016000	0.15963	0.050000	0.14768	0.230000	0.17852	0.027000	0.15297	0.462000	0.41574	GAA	HRC	-	NULL		0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49657150	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.123	G	G	49657150	C	G	49657150	3	3	192	1	0	0	0	0	1	0	0	0	7372	922	32	1	778	1	HRC	19	49657150	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09	434	49657150	9471833	28	36653										
PLUNC	51297	genome.wustl.edu	37	chr20	31825677	31825677	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ttgcaggaagcttgacaaatGgtgagttttcaggggtgtat	14	4	1	2			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr20:31825677G>T	ENST00000354297.4	+	2	231	c.160G>T	c.(160-162)Gcc>Tcc	p.A54S	BPIFA1_ENST00000375422.2_Splice_Site_p.A54S|BPIFA1_ENST00000375413.4_Splice_Site_p.A54S	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	54					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										CTTGACAAATGGTGAGTTTTC	0.552																																																	0													75	70	72					20																	31825677		2203	4300	6503	SO:0001630	splice_region_variant	51297			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.160+1G>T	20.37:g.31825677G>T			A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.A54S	ENST00000354297.4	37	c.160	CCDS13217.1	20	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859181	0.51376	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.13307	2.6;2.6;2.6	5.32	4.37	0.52481	.	0.312116	0.26907	N	0.021891	T	0.16938	0.0407	M	0.65498	2.005	0.27970	N	0.936444	P	0.42908	0.793	B	0.41374	0.355	T	0.08472	-1.0720	10	0.38643	T	0.18	-3.3173	10.1802	0.42963	0.0897:0.0:0.9103:0.0	.	54	Q9NP55	BPIA1_HUMAN	S	54;54;54;40	ENSP00000364571:A54S;ENSP00000346251:A54S;ENSP00000364562:A54S	ENSP00000346251:A54S	A	+	1	0	BPIFA1	31289338	0.995000	0.38212	0.838000	0.33150	0.081000	0.17604	2.713000	0.47194	1.630000	0.50440	0.655000	0.94253	GCC	BPIFA1	-	NULL		0.552	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA1	HGNC	protein_coding	OTTHUMT00000078667.2	G	NM_130852	Missense_Mutation	31825677	1	no_errors	ENST00000354297	ensembl	human	known	70_37	missense	SNP	0.909	T	T	31825677	G	T	31825677	5	4	192	1	0	0	0	0	0	0	1	0	12139	1362	47	4	162	4	PLUNC	20	31825677	Splice_Site	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09		31825677	31199843	29	36654										
RNF160	26046	genome.wustl.edu	37	chr21	30357145	30357145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	tgagccattagccaatatccCattaaactttttaagtaggg	7	8	0	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr21:30357145C>T	ENST00000361371.5	-	4	523	c.444G>A	c.(442-444)atG>atA	p.M148I	LTN1_ENST00000389195.2_Missense_Mutation_p.M194I|LTN1_ENST00000389194.2_Missense_Mutation_p.M194I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	148					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCCAATATCCCATTAAACTTT	0.433																																																	0													106	104	105					21																	30357145		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.444G>A	21.37:g.30357145C>T	ENSP00000354977:p.Met148Ile		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.M148I	ENST00000361371.5	37	c.444		21	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396760	0.83120	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.62788	3.67;3.67;0.0	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.66196	0.942	T	0.66964	-0.5790	10	0.18276	T	0.48	.	19.3304	0.94283	0.0:1.0:0.0:0.0	.	148	O94822	LTN1_HUMAN	I	194;148;150;194	ENSP00000373846:M194I;ENSP00000354977:M148I;ENSP00000373847:M194I	ENSP00000354977:M148I	M	-	3	0	LTN1	29279016	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.805000	0.96524	0.460000	0.39030	ATG	LTN1	-	superfamily_ARM-type_fold		0.433	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	C	NM_015565		30357145	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	missense	SNP	1.000	T	T	30357145	C	T	30357145	3	4	192	1	0	0	0	0	1	0	0	0	13485	594	21	4	4964	4	RNF160	21	30357145	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		30357145	17772750	30	36655										
C2CD2	25966	genome.wustl.edu	37	chr21	43325861	43325861	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	gaagaagagagtgttttgctGacgggggcgctgcggcaggc	19	7	0	3			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr21:43325861G>A	ENST00000380486.3	-	11	1645	c.1404C>T	c.(1402-1404)gtC>gtT	p.V468V	C2CD2_ENST00000329623.7_Silent_p.V313V	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	468						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GTGTTTTGCTGACGGGGGCGC	0.547																																																	0													105	103	103					21																	43325861		2203	4300	6503	SO:0001819	synonymous_variant	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1404C>T	21.37:g.43325861G>A			Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.V468	ENST00000380486.3	37	c.1404	CCDS42933.1	21																																																																																			C2CD2	-	NULL		0.547	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	G	NM_015500		43325861	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43325861	G	A	43325861	2	1	192	1	0	0	0	0	0	0	0	1	2157	1277	45	1		1	C2CD2	21	43325861	Silent	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09	12968716	43325861	4804034	31	36656			1	144		3	3	35	G		7.170956e-10
C2CD2	25966	genome.wustl.edu	37	chr21	43325882	43325882	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	acgggggcgctgcggcaggcGatggcctggacagagatgtc	19	10	0	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr21:43325882G>A	ENST00000380486.3	-	11	1624	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	C2CD2_ENST00000329623.7_Silent_p.I306I	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	461						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGCGGCAGGCGATGGCCTGGA	0.562																																																	0													100	95	97					21																	43325882		2203	4300	6503	SO:0001819	synonymous_variant	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1383C>T	21.37:g.43325882G>A			Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.I461	ENST00000380486.3	37	c.1383	CCDS42933.1	21																																																																																			C2CD2	-	NULL		0.562	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	G	NM_015500		43325882	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	silent	SNP	0.328	A	A	43325882	G	A	43325882	2	1	192	1	0	0	0	0	0	0	0	1	2157	1048	37	1		1	C2CD2	21	43325882	Silent	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09	21	43325882	4804013	32	36657			1	144		3	3	35	G		7.170956e-10
C2CD2	25966	genome.wustl.edu	37	chr21	43325895	43325895	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	ggcaggcgatggcctggacaGagatgtccttctcgatcacc	13	12	2	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr21:43325895G>A	ENST00000380486.3	-	11	1611	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F	C2CD2_ENST00000329623.7_Missense_Mutation_p.S302F	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	457						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGCCTGGACAGAGATGTCCTT	0.567																																																	0													105	97	100					21																	43325895		2203	4300	6503	SO:0001583	missense	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1370C>T	21.37:g.43325895G>A	ENSP00000369853:p.Ser457Phe		Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S457F	ENST00000380486.3	37	c.1370	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687289	0.68157	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.77489	-1.1;-1.1	4.58	4.58	0.56647	.	0.112873	0.64402	D	0.000006	D	0.84862	0.5566	M	0.69823	2.125	0.46609	D	0.999124	D;D	0.76494	0.999;0.997	D;D	0.66602	0.945;0.945	D	0.85951	0.1464	10	0.72032	D	0.01	-13.9693	11.0331	0.47785	0.0912:0.0:0.9088:0.0	.	302;457	Q6P6D1;Q9Y426	.;CU025_HUMAN	F	302;457	ENSP00000329302:S302F;ENSP00000369853:S457F	ENSP00000329302:S302F	S	-	2	0	C2CD2	42198964	1.000000	0.71417	0.936000	0.37596	0.962000	0.63368	3.713000	0.54882	2.471000	0.83476	0.655000	0.94253	TCT	C2CD2	-	NULL		0.567	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	G	NM_015500		43325895	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	missense	SNP	0.932	A	A	43325895	G	A	43325895	3	1	192	1	0	0	0	0	1	0	0	0	2157	942	33	1	736	1	C2CD2	21	43325895	Missense_Mutation	SNP	G	TCGA-UC-A7PD-01A-11D-A351-09	13	43325895	4804000	33	36658			1	144		3	3	35	G		7.170956e-10
SGSM1	129049	genome.wustl.edu	37	chr22	25282579	25282579	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	caccacagagttacgaggagCaggagctgctgcgcctcatc	12	13	1	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr22:25282579C>T	ENST00000400359.4	+	17	1826	c.1819C>T	c.(1819-1821)Cag>Tag	p.Q607*	SGSM1_ENST00000400358.4_Nonsense_Mutation_p.Q552*	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	607						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTACGAGGAGCAGGAGCTGCT	0.582																																																	0													25	26	26					22																	25282579		1929	4067	5996	SO:0001587	stop_gained	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1819C>T	22.37:g.25282579C>T	ENSP00000383212:p.Gln607*		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Nonsense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.Q607*	ENST00000400359.4	37	c.1819	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839494	0.91117	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	.	.	.	5.73	4.66	0.58398	.	0.299368	0.39475	N	0.001349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-19.1296	15.9251	0.79609	0.1349:0.8651:0.0:0.0	.	.	.	.	X	668;552;607	.	ENSP00000383211:Q552X	Q	+	1	0	SGSM1	23612579	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	2.376000	0.44292	2.882000	0.98803	0.655000	0.94253	CAG	SGSM1	-	superfamily_Rab-GTPase-TBC_dom		0.582	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	C	XM_059318		25282579	1	no_errors	ENST00000400359	ensembl	human	known	70_37	nonsense	SNP	0.999	T	T	25282579	C	T	25282579	4	4	192	1	0	0	0	0	0	1	0	0	14252	711	25	4	1885	4	SGSM1	22	25282579	Nonsense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		25282579	26021987	34	36659										
PIM2	11040	genome.wustl.edu	37	chrX	48772318	48772318	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.428571428571429	15	6.97975453323768e-06	3.69417475728155	4.92556634304207	3.16643550624133	0.46609222478544	0.711983398491145	11	atcaaagtcagtgtagggttCatcatgaagcagggcaccag	12	8	4	1			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chrX:48772318C>G	ENST00000376509.4	-	4	763	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GTGTAGGGTTCATCATGAAGC	0.488																																																	0													59	47	51					X																	48772318		2203	4300	6503	SO:0001583	missense	11040			U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.574G>C	X.37:g.48772318C>G	ENSP00000365692:p.Glu192Gln		A8K4G6|Q99739	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E192Q	ENST00000376509.4	37	c.574	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362583	0.24684	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.14516	2.5;2.5	5.6	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.218593	0.38492	N	0.001668	T	0.09730	0.0239	L	0.33189	0.99	0.30581	N	0.762492	B	0.28760	0.221	B	0.23018	0.043	T	0.04650	-1.0936	10	0.51188	T	0.08	.	7.4371	0.27162	0.1688:0.7418:0.0:0.0895	.	192	Q9P1W9	PIM2_HUMAN	Q	192;80	ENSP00000365692:E192Q;ENSP00000410960:E80Q	ENSP00000365692:E192Q	E	-	1	0	PIM2	48657262	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	0.949000	0.29109	2.343000	0.79666	0.600000	0.82982	GAA	PIM2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.488	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	HGNC	protein_coding	OTTHUMT00000060805.1	C			48772318	-1	no_errors	ENST00000376509	ensembl	human	known	70_37	missense	SNP	0.997	G	G	48772318	C	G	48772318	3	3	192	1	0	0	0	0	1	0	0	0	11952	835	29	1	373	1	PIM2	23	48772318	Missense_Mutation	SNP	C	TCGA-UC-A7PD-01A-11D-A351-09		48772318	106498242	35	36660										
KIF1B	23095	genome.wustl.edu	37	chr1	10384847	10384847	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atttgatgcgagagatgtatGatagggcaggggagatggcc	17	4	0	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:10384847G>C	ENST00000377086.1	+	26	2771	c.2569G>C	c.(2569-2571)Gat>Cat	p.D857H	KIF1B_ENST00000263934.6_Missense_Mutation_p.D811H|KIF1B_ENST00000377081.1_Missense_Mutation_p.D857H			O60333	KIF1B_HUMAN	kinesin family member 1B	857					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGATGTATGATAGGGCAGG	0.453																																																	0													171	164	167					1																	10384847		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2569G>C	1.37:g.10384847G>C	ENSP00000366290:p.Asp857His		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D811H	ENST00000377086.1	37	c.2431		1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033475	0.75504	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.76968	-1.06;-1.06;-1.06	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.84857	0.5565	L	0.43757	1.38	0.80722	D	1	D;D;D;P;P;B	0.89917	0.967;0.967;1.0;0.943;0.465;0.376	P;P;D;P;B;B	0.97110	0.838;0.838;1.0;0.733;0.251;0.163	D	0.83425	0.0035	10	0.41790	T	0.15	.	19.4313	0.94768	0.0:0.0:1.0:0.0	.	843;817;857;831;857;811	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	857;811;857;857	ENSP00000263934:D811H;ENSP00000366290:D857H;ENSP00000366284:D857H	ENSP00000263934:D811H	D	+	1	0	KIF1B	10307434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.688000	0.91661	0.650000	0.86243	GAT	KIF1B	-	pfam_KIF1B		0.453	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10384847	1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	C	C	10384847	G	C	10384847	3	2	193	1	0	0	0	0	1	0	0	0	8304	1290	45	1	4010	1	KIF1B	1	10384847	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		10384847	238865774	1	36661										
CORT	1325	genome.wustl.edu	37	chr1	10510270	10510270	+	5'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggtgggagagaagctccagtCagcccacaagatgccattgt	13	10	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:10510270C>T	ENST00000377049.3	+	0	495				CORT_ENST00000320498.4_Missense_Mutation_p.S47L|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000602296.1_Intron	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCTCCAGTCAGCCCACAAG	0.642																																																	0													85	84	84					1																	10510270		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1325			AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"Endogenous ligands"	2257	protein-coding gene	gene with protein product	"prepro-cortistatin"	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.-11C>T	1.37:g.10510270C>T			Q5T6G0|Q6UX11	Missense_Mutation	SNP	pfam_Somatostatin/Cortistatin_C	p.S47L	ENST00000377049.3	37	c.140	CCDS117.2	1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788815	0.31685	.	.	ENSG00000241563	ENST00000320498	.	.	.	4.38	-1.71	0.08133	.	.	.	.	.	T	0.36166	0.0957	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39840	-0.9594	5	0.54805	T	0.06	-5.1967	6.197	0.20555	0.0:0.397:0.4175:0.1854	.	.	.	.	L	47	.	ENSP00000317110:S47L	S	+	2	0	CORT	10432857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.263000	0.18478	-0.278000	0.09180	-0.150000	0.13652	TCA	CORT	-	NULL		0.642	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CORT	HGNC	protein_coding	OTTHUMT00000005410.3	C	NM_001302		10510270	1	no_errors	ENST00000320498	ensembl	human	known	70_37	missense	SNP	0.000	T	T	10510270	C	T	10510270	1	4	193	0	1	0	0	0	0	0	0	0	3765	838	29	1		1	CORT	1	10510270	5'UTR	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	125423	10510270	238740351	2	36662										
MTOR	2475	genome.wustl.edu	37	chr1	11188178	11188178	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gccactgtcagtgggtagatGagggcctgagggaaaaacag	16	7	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:11188178G>A	ENST00000361445.4	-	43	5992	c.5916C>T	c.(5914-5916)ctC>ctT	p.L1972L	MTOR_ENST00000376838.1_Silent_p.L177L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1972	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GTGGGTAGATGAGGGCCTGAG	0.463																																																	0													106	111	110					1																	11188178		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5916C>T	1.37:g.11188178G>A			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1972	ENST00000361445.4	37	c.5916	CCDS127.1	1																																																																																			MTOR	-	pfscan_PIK_FAT		0.463	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11188178	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	silent	SNP	1.000	A	A	11188178	G	A	11188178	2	1	193	1	0	0	0	0	0	0	0	1	9977	1277	45	1		1	MTOR	1	11188178	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	677908	11188178	238062443	3	36663										
PTCHD2	57540	genome.wustl.edu	37	chr1	11579820	11579820	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccctggtgtctgtgtcccccGagggtctgcagccagcctcc	12	17	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:11579820G>T	ENST00000294484.6	+	9	2221	c.2083G>T	c.(2083-2085)Gag>Tag	p.E695*	PTCHD2_ENST00000389575.3_Nonsense_Mutation_p.E695*	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	695					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGTGTCCCCCGAGGGTCTGCA	0.647																																																	0													74	87	83					1																	11579820		2120	4240	6360	SO:0001587	stop_gained	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2083G>T	1.37:g.11579820G>T	ENSP00000294484:p.Glu695*		Q5VTU9|Q9UJD6	Nonsense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.E695*	ENST00000294484.6	37	c.2083	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.881831	0.97062	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	.	.	.	5.38	2.44	0.29823	.	0.262939	0.37437	N	0.002084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.5786	6.718	0.23314	0.1494:0.2731:0.5775:0.0	.	.	.	.	X	695	.	ENSP00000294484:E695X	E	+	1	0	PTCHD2	11502407	0.003000	0.15002	0.002000	0.10522	0.272000	0.26649	0.354000	0.20146	0.231000	0.21079	0.555000	0.69702	GAG	PTCHD2	-	pfam_Patched		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	G	XM_052561		11579820	1	no_errors	ENST00000294484	ensembl	human	known	70_37	nonsense	SNP	0.007	T	T	11579820	G	T	11579820	4	4	193	1	0	0	0	0	0	1	0	0	12760	1059	37	3	2113	3	PTCHD2	1	11579820	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	391642	11579820	237670801	4	36664										
CLCN6	1185	genome.wustl.edu	37	chr1	11886216	11886216	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cttttctcttgctttagtttCagagcatctccttacggaag	7	10	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:11886216C>G	ENST00000346436.6	+	9	704	c.652C>G	c.(652-654)Cag>Gag	p.Q218E	CLCN6_ENST00000376496.3_Missense_Mutation_p.Q218E|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.Q218E|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q196E	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	218					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTAGTTTCAGAGCATCTC	0.378																																																	0													133	130	131					1																	11886216		2203	4300	6503	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.652C>G	1.37:g.11886216C>G	ENSP00000234488:p.Gln218Glu		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.Q218E	ENST00000346436.6	37	c.652	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936181	0.52972	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.76	5.76	0.90799	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	L	0.41356	1.27	0.80722	D	1	B;B;P;P;B	0.35011	0.11;0.2;0.473;0.48;0.134	B;B;B;B;B	0.30943	0.033;0.061;0.122;0.09;0.056	D	0.86825	0.2007	10	0.36615	T	0.2	-28.5382	18.9641	0.92689	0.0:1.0:0.0:0.0	.	196;218;218;218;218	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	E	218;218;196;218;218;218;218	ENSP00000308367:Q218E;ENSP00000234488:Q218E;ENSP00000365670:Q196E;ENSP00000365679:Q218E	ENSP00000308367:Q218E	Q	+	1	0	CLCN6	11808803	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.471000	0.80985	2.713000	0.92767	0.655000	0.94253	CAG	CLCN6	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl_channel-6		0.378	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	C	NM_001286		11886216	1	no_errors	ENST00000346436	ensembl	human	known	70_37	missense	SNP	1.000	G	G	11886216	C	G	11886216	3	3	193	1	0	0	0	0	1	0	0	0	3472	827	29	1	686	1	CLCN6	1	11886216	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	306396	11886216	237364405	5	36665										
PRAMEF18	391003	genome.wustl.edu	37	chr1	13475010	13475010	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgaggttggagcagcggctCagggcaggcaggatgaccct	18	9	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:13475010C>T	ENST00000376126.2	-	3	1118	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	373					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCGGCTCAGGGCAGGCA	0.562																																																	0													121	131	128					1																	13475010		2201	4297	6498	SO:0001819	synonymous_variant	391003					1p36.21	2013-01-17			ENSG00000204491			"-"	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1119G>A	1.37:g.13475010C>T				Silent	SNP	NULL	p.L373	ENST00000376126.2	37	c.1119	CCDS41258.1	1																																																																																			PRAMEF18	-	NULL		0.562	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PRAMEF18	HGNC	protein_coding	OTTHUMT00000008177.2	C	NM_001099850		13475010	-1	no_errors	ENST00000376126	ensembl	human	known	70_37	silent	SNP	0.955	T	T	13475010	C	T	13475010	2	4	193	1	0	0	0	0	0	0	0	1	12460	813	29	1		1	PRAMEF18	1	13475010	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1588794	13475010	235775611	6	36666										
DDI2	84301	genome.wustl.edu	37	chr1	15978270	15978270	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cccagaccacctttcttcctGagggagagctaccagagtgt	10	13	1	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:15978270G>A	ENST00000480945.1	+	8	1234	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	355							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTTTCTTCCTGAGGGAGAGCT	0.502																																																	0													73	73	73					1																	15978270		2203	4300	6503	SO:0001583	missense	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1063G>A	1.37:g.15978270G>A	ENSP00000417748:p.Glu355Lys		A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup	p.E355K	ENST00000480945.1	37	c.1063	CCDS30607.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.583361	0.96578	.	.	ENSG00000197312	ENST00000480945	T	0.32023	1.47	5.41	5.41	0.78517	.	0.000000	0.85682	U	0.000000	T	0.59636	0.2208	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63761	-0.6564	10	0.87932	D	0	-5.7046	18.8189	0.92088	0.0:0.0:1.0:0.0	.	355	Q5TDH0	DDI2_HUMAN	K	355	ENSP00000417748:E355K	ENSP00000417748:E355K	E	+	1	0	DDI2	15850857	1.000000	0.71417	0.912000	0.35992	0.917000	0.54804	9.476000	0.97823	2.554000	0.86153	0.467000	0.42956	GAG	DDI2	-	NULL		0.502	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI2	HGNC	protein_coding	OTTHUMT00000006826.1	G	NM_032341		15978270	1	no_errors	ENST00000480945	ensembl	human	known	70_37	missense	SNP	1.000	A	A	15978270	G	A	15978270	3	1	193	1	0	0	0	0	1	0	0	0	4334	1291	45	1	1093	1	DDI2	1	15978270	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2503260	15978270	233272351	7	36667										
SPEN	23013	genome.wustl.edu	37	chr1	16242628	16242628	+	Missense_Mutation	SNP	G	G	A													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccattccacttacagaaacaGaaagtgaaaatgaatttcgc							TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:16242628G>A	ENST00000375759.3	+	6	1453	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	417					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TACAGAAACAGAAAGTGAAAA	0.338																																																	0													89	85	86					1																	16242628		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1249G>A	1.37:g.16242628G>A	ENSP00000364912:p.Glu417Lys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E417K	ENST00000375759.3	37	c.1249	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938551	0.92526	.	.	ENSG00000065526	ENST00000375759	T	0.10382	2.88	5.87	5.87	0.94306	.	.	.	.	.	T	0.20618	0.0496	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08391	-1.0724	9	0.40728	T	0.16	-24.3013	20.2147	0.98293	0.0:0.0:1.0:0.0	.	417	Q96T58	MINT_HUMAN	K	417	ENSP00000364912:E417K	ENSP00000364912:E417K	E	+	1	0	SPEN	16115215	1.000000	0.71417	0.997000	0.53966	0.698000	0.40448	9.353000	0.97080	2.785000	0.95823	0.591000	0.81541	GAA	SPEN	-	NULL		0.338	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16242628	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16242628	G	A	16242628	3	1	193	1	0	0	0	0	1	0	0	0	15068	943	33	1	1271	1	SPEN	1	16242628	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	264358	16242628	233007993	8	36668	230	2								
SPEN	23013	genome.wustl.edu	37	chr1	16242634	16242634	+	Missense_Mutation	SNP	G	G	A													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cacttacagaaacagaaagtGaaaatgaatttcgccccttg							TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:16242634G>A	ENST00000375759.3	+	6	1459	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	419					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACAGAAAGTGAAAATGAATT	0.343																																																	0													94	90	91					1																	16242634		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1255G>A	1.37:g.16242634G>A	ENSP00000364912:p.Glu419Lys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E419K	ENST00000375759.3	37	c.1255	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.543685	0.96474	.	.	ENSG00000065526	ENST00000375759	T	0.09073	3.02	5.87	5.87	0.94306	.	.	.	.	.	T	0.17831	0.0428	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08700	-1.0709	9	0.66056	D	0.02	-24.043	20.2147	0.98293	0.0:0.0:1.0:0.0	.	419	Q96T58	MINT_HUMAN	K	419	ENSP00000364912:E419K	ENSP00000364912:E419K	E	+	1	0	SPEN	16115221	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.353000	0.97080	2.785000	0.95823	0.591000	0.81541	GAA	SPEN	-	NULL		0.343	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16242634	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16242634	G	A	16242634	3	1	193	1	0	0	0	0	1	0	0	0	15068	1291	45	1	1277	1	SPEN	1	16242634	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	6	16242634	233007987	9	36669	230	2								
SPEN	23013	genome.wustl.edu	37	chr1	16264463	16264463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcgcccagaggatgcggctgGaggcaacgcagctggaaggg	18	10	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:16264463G>A	ENST00000375759.3	+	13	10870	c.10666G>A	c.(10666-10668)Gag>Aag	p.E3556K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3556	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATGCGGCTGGAGGCAACGCA	0.622																																																	0													58	55	56					1																	16264463		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10666G>A	1.37:g.16264463G>A	ENSP00000364912:p.Glu3556Lys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E3556K	ENST00000375759.3	37	c.10666	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533765	0.85812	.	.	ENSG00000065526	ENST00000375759	T	0.15017	2.46	5.3	5.3	0.74995	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.49983	0.1589	M	0.87038	2.855	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	T	0.56774	-0.7923	9	0.66056	D	0.02	-23.6015	19.3263	0.94264	0.0:0.0:1.0:0.0	.	3556	Q96T58	MINT_HUMAN	K	3556	ENSP00000364912:E3556K	ENSP00000364912:E3556K	E	+	1	0	SPEN	16137050	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.293000	0.96082	2.628000	0.89032	0.655000	0.94253	GAG	SPEN	-	pfam_SPOC_C,superfamily_SPOC-like,pfscan_SPOC_met		0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16264463	1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A	A	16264463	G	A	16264463	3	1	193	1	0	0	0	0	1	0	0	0	15068	1175	41	1	10716	1	SPEN	1	16264463	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	21829	16264463	232986158	10	36670										
ARID1A	8289	genome.wustl.edu	37	chr1	27092778	27092778	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggacctccttatggacaaggGattaatagtatggctggcat	12	7	0	0	rs374337987		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:27092778G>A	ENST00000324856.7	+	9	3170	c.2799G>A	c.(2797-2799)ggG>ggA	p.G933G	ARID1A_ENST00000374152.2_Silent_p.G550G|ARID1A_ENST00000457599.2_Silent_p.G933G|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	933					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGGACAAGGGATTAATAGTA	0.498			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													103	101	102					1																	27092778		2203	4300	6503	SO:0001819	synonymous_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2799G>A	1.37:g.27092778G>A			D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G933	ENST00000324856.7	37	c.2799	CCDS285.1	1																																																																																			ARID1A	-	NULL		0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27092778	1	no_errors	ENST00000324856	ensembl	human	known	70_37	silent	SNP	0.980	A	A	27092778	G	A	27092778	2	1	193	1	0	0	0	0	0	0	0	1	913	1161	41	1		1	ARID1A	1	27092778	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	10828315	27092778	222157843	11	36671										
WASF2	10163	genome.wustl.edu	37	chr1	27742548	27742548	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttctccttccaaagatcaaaGaagtatgaagggtctgtgta	9	7	3	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:27742548G>C	ENST00000430629.2	-	5	683	c.468C>G	c.(466-468)ttC>ttG	p.F156L	WASF2_ENST00000536657.1_Missense_Mutation_p.F156L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	156					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AAAGATCAAAGAAGTATGAAG	0.463																																																	0													215	186	196					1																	27742548		2203	4300	6503	SO:0001583	missense	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.468C>G	1.37:g.27742548G>C	ENSP00000396211:p.Phe156Leu		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.F156L	ENST00000430629.2	37	c.468	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285604	0.80803	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.64260	-0.09;0.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84220	0.5424	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	D	0.87548	0.2463	10	0.87932	D	0	-8.7046	18.9786	0.92747	0.0:0.0:1.0:0.0	.	156;156	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	L	156	ENSP00000396211:F156L;ENSP00000439883:F156L	ENSP00000396211:F156L	F	-	3	2	WASF2	27615135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.578000	0.87016	0.563000	0.77884	TTC	WASF2	-	NULL		0.463	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	G	NM_006990		27742548	-1	no_errors	ENST00000430629	ensembl	human	known	70_37	missense	SNP	1.000	C	C	27742548	G	C	27742548	3	2	193	1	0	0	0	0	1	0	0	0	17284	933	33	1	1048	1	WASF2	1	27742548	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	649770	27742548	221508073	12	36672										
FGR	2268	genome.wustl.edu	37	chr1	27949617	27949617	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtcatcctcagttcgagcctCatagtcatacagggcaatga	9	11	4	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:27949617C>T	ENST00000374005.3	-	4	553	c.265G>A	c.(265-267)Gag>Aag	p.E89K	FGR_ENST00000468038.1_5'Flank|FGR_ENST00000374004.1_Missense_Mutation_p.E89K|FGR_ENST00000399173.1_Missense_Mutation_p.E89K|FGR_ENST00000545953.1_Missense_Mutation_p.E89K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	89	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCGAGCCTCATAGTCATAC	0.557																																																	0													194	139	158					1																	27949617		2203	4300	6503	SO:0001583	missense	2268			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.265G>A	1.37:g.27949617C>T	ENSP00000363117:p.Glu89Lys		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E89K	ENST00000374005.3	37	c.265	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110964	0.77210	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.41	4.5	0.54988	Src homology-3 domain (5);	0.102549	0.40469	N	0.001089	T	0.37348	0.1000	L	0.31120	0.905	0.36784	D	0.884496	B	0.14012	0.009	B	0.17979	0.02	T	0.41520	-0.9504	10	0.66056	D	0.02	.	12.5503	0.56223	0.0:0.9182:0.0:0.0818	.	89	P09769	FGR_HUMAN	K	89	ENSP00000363117:E89K;ENSP00000445302:E89K;ENSP00000382126:E89K;ENSP00000363116:E89K;ENSP00000363115:E89K;ENSP00000407670:E89K	ENSP00000363115:E89K	E	-	1	0	FGR	27822204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.087000	0.71362	1.412000	0.46977	0.650000	0.86243	GAG	FGR	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.557	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	HGNC	protein_coding	OTTHUMT00000009772.1	C	NM_005248		27949617	-1	no_errors	ENST00000374003	ensembl	human	known	70_37	missense	SNP	1.000	T	T	27949617	C	T	27949617	3	4	193	1	0	0	0	0	1	0	0	0	5892	835	29	1	1364	1	FGR	1	27949617	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	207069	27949617	221301004	13	36673										
GJB3	2707	genome.wustl.edu	37	chr1	35250933	35250933	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aagaaaatcttcacctacttCatggtgggcgcctccgccgt	9	13	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:35250933C>T	ENST00000373366.2	+	2	1185	c.570C>T	c.(568-570)ttC>ttT	p.F190F	GJB3_ENST00000373362.3_Silent_p.F190F|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	190					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCACCTACTTCATGGTGGGCG	0.597																																																	0													96	92	93					1																	35250933		2203	4300	6503	SO:0001819	synonymous_variant	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.570C>T	1.37:g.35250933C>T			B2R790|Q2TAZ8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31	p.F190	ENST00000373366.2	37	c.570	CCDS384.1	1																																																																																			GJB3	-	pfam_Connexin_CCC,prints_Connexin		0.597	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB3	HGNC	protein_coding	OTTHUMT00000011559.1	C	NM_024009		35250933	1	no_errors	ENST00000373362	ensembl	human	known	70_37	silent	SNP	1.000	T	T	35250933	C	T	35250933	2	4	193	1	0	0	0	0	0	0	0	1	6428	825	29	1		1	GJB3	1	35250933	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	7301316	35250933	213999688	14	36674										
TEKT2	27285	genome.wustl.edu	37	chr1	36550612	36550612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctatccaccaatgcccagctGcagcgagatgcttcccatca	7	16	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:36550612G>A	ENST00000207457.3	+	2	217	c.90G>A	c.(88-90)ctG>ctA	p.L30L	RP4-665N4.4_ENST00000446354.1_RNA	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	30					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATGCCCAGCTGCAGCGAGATG	0.617																																																	0													54	49	51					1																	36550612		2203	4300	6503	SO:0001819	synonymous_variant	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.90G>A	1.37:g.36550612G>A			A6NIS6|O60638	Silent	SNP	pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.L30	ENST00000207457.3	37	c.90	CCDS401.1	1																																																																																			TEKT2	-	pfam_Tektin		0.617	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1	G	NM_014466		36550612	1	no_errors	ENST00000207457	ensembl	human	known	70_37	silent	SNP	0.811	A	A	36550612	G	A	36550612	2	1	193	1	0	0	0	0	0	0	0	1	15783	1306	46	4		4	TEKT2	1	36550612	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1299679	36550612	212700009	15	36675										
ZMPSTE24	10269	genome.wustl.edu	37	chr1	40723960	40723960	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggccatggggatgtgggcatCgctggacgctttgtgggaga	19	7	0	1	rs373684692		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:40723960C>A	ENST00000372759.3	+	1	182	c.17C>A	c.(16-18)tCg>tAg	p.S6*	ZMPSTE24_ENST00000479131.1_3'UTR|RP1-39G22.7_ENST00000567508.1_RNA	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	6					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.S6W(1)|p.S6L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGTGGGCATCGCTGGACGCT	0.632																																																	2	Substitution - Missense(2)	lung(2)											108	97	101					1																	40723960		2203	4300	6503	SO:0001587	stop_gained	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog"	606480	"zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)"			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.17C>A	1.37:g.40723960C>A	ENSP00000361845:p.Ser6*		B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Nonsense_Mutation	SNP	pfam_Peptidase_M48	p.S6*	ENST00000372759.3	37	c.17	CCDS449.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.672206	0.97751	.	.	ENSG00000084073	ENST00000372759	.	.	.	5.44	3.5	0.40072	.	0.169960	0.48286	D	0.000181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-0.0695	4.3055	0.10944	0.1757:0.6072:0.0:0.217	.	.	.	.	X	6	.	ENSP00000361845:S6X	S	+	2	0	ZMPSTE24	40496547	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.587000	0.23909	1.306000	0.44926	0.655000	0.94253	TCG	ZMPSTE24	-	NULL		0.632	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMPSTE24	HGNC	protein_coding	OTTHUMT00000015766.1	C			40723960	1	no_errors	ENST00000372759	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	40723960	C	A	40723960	4	1	193	1	0	0	0	0	0	1	0	0	17728	893	31	3	19	3	ZMPSTE24	1	40723960	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4173348	40723960	208526661	16	36676										
ST3GAL3	6487	genome.wustl.edu	37	chr1	44386147	44386147	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccccctgagattcgaatcctCaacccatatttcatccagga	5	15	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:44386147C>T	ENST00000361392.4	+	10	993	c.816C>T	c.(814-816)ctC>ctT	p.L272L	ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372374.2_Silent_p.L241L|ST3GAL3_ENST00000372368.2_Silent_p.L326L|ST3GAL3_ENST00000372375.2_Silent_p.L326L|ST3GAL3_ENST00000262915.3_Silent_p.L341L|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000347631.2_Silent_p.L287L|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000361746.4_Silent_p.L341L|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372372.2_Silent_p.L310L|ST3GAL3_ENST00000361400.4_Silent_p.L256L|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000332628.6_Silent_p.L241L|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.S194L|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000351035.3_Silent_p.L310L	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	272					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TTCGAATCCTCAACCCATATT	0.587																																																	0													87	81	83					1																	44386147		2203	4300	6503	SO:0001819	synonymous_variant	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.816C>T	1.37:g.44386147C>T			A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.S194L	ENST00000361392.4	37	c.581	CCDS492.1	1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032735	0.54790	.	.	ENSG00000126091	ENST00000335430;ENST00000490502	T	0.59772	0.24	4.59	4.59	0.56863	.	.	.	.	.	T	0.59404	0.2191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57412	-0.7816	5	.	.	.	.	8.7576	0.34654	0.141:0.6489:0.2101:0.0	.	.	.	.	L	194;71	ENSP00000335633:S194L	.	S	+	2	0	ST3GAL3	44158734	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.636000	0.46545	2.264000	0.75181	0.467000	0.42956	TCA	ST3GAL3	-	NULL		0.587	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL3	HGNC	protein_coding	OTTHUMT00000019964.1	C	NM_174963		44386147	1	no_errors	ENST00000335430	ensembl	human	known	70_37	missense	SNP	1.000	T	T	44386147	C	T	44386147	2	4	193	1	0	0	0	0	0	0	0	1	15246	813	29	1		1	ST3GAL3	1	44386147	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3662187	44386147	204864474	17	36677										
RNF220	55182	genome.wustl.edu	37	chr1	45115372	45115372	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgaccacgtttgaggctctGaaggctcgggtcagagaact	14	9	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:45115372G>C	ENST00000355387.2	+	13	1935	c.1485G>C	c.(1483-1485)ctG>ctC	p.L495L	RNF220_ENST00000361799.2_Silent_p.L495L|RNF220_ENST00000372247.2_Silent_p.L495L|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000443020.2_Silent_p.L282L|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	495					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTGAGGCTCTGAAGGCTCGGG	0.522																																																	0													146	138	141					1																	45115372		2203	4300	6503	SO:0001819	synonymous_variant	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1485G>C	1.37:g.45115372G>C			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.L495	ENST00000355387.2	37	c.1485	CCDS510.1	1																																																																																			RNF220	-	superfamily_Peptidase_M20_dimer		0.522	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	G	NM_018150		45115372	1	no_errors	ENST00000355387	ensembl	human	known	70_37	silent	SNP	1.000	C	C	45115372	G	C	45115372	2	2	193	1	0	0	0	0	0	0	0	1	13513	1277	45	1		1	RNF220	1	45115372	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	729225	45115372	204135249	18	36678										
KIF2C	11004	genome.wustl.edu	37	chr1	45232560	45232560	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccagactatgacctggagacCtttgtgaacaaagcggaatc	10	10	0	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:45232560C>G	ENST00000372224.4	+	20	2147	c.2034C>G	c.(2032-2034)acC>acG	p.T678T	RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Silent_p.T565T|KIF2C_ENST00000372218.4_Silent_p.T637T|KIF2C_ENST00000372217.1_Silent_p.T624T	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	678					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ACCTGGAGACCTTTGTGAACA	0.557																																																	0													90	83	85					1																	45232560		2203	4300	6503	SO:0001819	synonymous_variant	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.2034C>G	1.37:g.45232560C>G			B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T678	ENST00000372224.4	37	c.2034	CCDS512.1	1																																																																																			KIF2C	-	NULL		0.557	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	C	NM_006845		45232560	1	no_errors	ENST00000372224	ensembl	human	known	70_37	silent	SNP	0.984	G	G	45232560	C	G	45232560	2	3	193	1	0	0	0	0	0	0	0	1	8319	668	24	4		4	KIF2C	1	45232560	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	117188	45232560	204018061	19	36679										
PLK3	1263	genome.wustl.edu	37	chr1	45267370	45267370	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctacctgcggcagatcctttCtggcctcaagtacttgcacc	8	15	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:45267370C>T	ENST00000372201.4	+	4	751	c.512C>T	c.(511-513)tCt>tTt	p.S171F	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGATCCTTTCTGGCCTCAAG	0.632																																																	0													81	82	82					1																	45267370		2203	4300	6503	SO:0001583	missense	1263			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.512C>T	1.37:g.45267370C>T	ENSP00000361275:p.Ser171Phe		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.S171F	ENST00000372201.4	37	c.512	CCDS515.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676862	0.88445	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.67698	-0.28	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78201	0.4246	M	0.81112	2.525	0.80722	D	1	B	0.33299	0.407	P	0.46208	0.507	T	0.81077	-0.1096	9	0.72032	D	0.01	-17.3619	17.0126	0.86410	0.0:1.0:0.0:0.0	.	171	Q9H4B4	PLK3_HUMAN	F	171;146	ENSP00000361275:S171F	ENSP00000361275:S171F	S	+	2	0	PLK3	45039957	1.000000	0.71417	0.950000	0.38849	0.536000	0.34869	7.811000	0.86092	2.269000	0.75478	0.549000	0.68633	TCT	PLK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.632	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	C	NM_004073		45267370	1	no_errors	ENST00000372201	ensembl	human	known	70_37	missense	SNP	1.000	T	T	45267370	C	T	45267370	3	4	193	1	0	0	0	0	1	0	0	0	12121	913	32	1	526	1	PLK3	1	45267370	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	34810	45267370	203983251	20	36680										
ZYG11B	79699	genome.wustl.edu	37	chr1	53237052	53237052	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggctgaagttgcctcattgcCaagattagagagcttggata	12	7	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:53237052C>G	ENST00000294353.6	+	3	702	c.557C>G	c.(556-558)cCa>cGa	p.P186R	ZYG11B_ENST00000545132.1_Missense_Mutation_p.P186R|ZYG11B_ENST00000443756.2_Missense_Mutation_p.P186R	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	186										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTCATTGCCAAGATTAGAG	0.478																																																	0													73	76	75					1																	53237052		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.557C>G	1.37:g.53237052C>G	ENSP00000294353:p.Pro186Arg		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P186R	ENST00000294353.6	37	c.557	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512220	0.64522	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.19669	2.13;2.13;2.13	5.04	5.04	0.67666	.	0.049336	0.85682	D	0.000000	T	0.42040	0.1185	L	0.51914	1.62	0.58432	D	0.999995	D;D	0.89917	0.996;1.0	D;D	0.79784	0.952;0.993	T	0.06588	-1.0818	10	0.39692	T	0.17	.	18.653	0.91437	0.0:1.0:0.0:0.0	.	186;186	B4DK95;Q9C0D3	.;ZY11B_HUMAN	R	186	ENSP00000400522:P186R;ENSP00000441315:P186R;ENSP00000294353:P186R	ENSP00000294353:P186R	P	+	2	0	ZYG11B	53009640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.653000	0.90120	0.650000	0.86243	CCA	ZYG11B	-	NULL		0.478	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	C	NM_024646		53237052	1	no_errors	ENST00000294353	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53237052	C	G	53237052	3	3	193	1	0	0	0	0	1	0	0	0	18283	594	21	4	567	4	ZYG11B	1	53237052	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	7969682	53237052	196013569	21	36681										
LEPR	3953	genome.wustl.edu	37	chr1	66067544	66067544	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agatgtcaatatcaatatctCatgtgaaactgatgggtact	8	6	3	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:66067544C>T	ENST00000349533.6	+	10	1489	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	LEPR_ENST00000371059.3_Missense_Mutation_p.S435L|LEPR_ENST00000371060.3_Missense_Mutation_p.S435L|LEPR_ENST00000344610.8_Missense_Mutation_p.S435L|LEPR_ENST00000371058.1_Missense_Mutation_p.S435L|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATCAATATCTCATGTGAAACT	0.294																																																	0													92	93	93					1																	66067544		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1304C>T	1.37:g.66067544C>T	ENSP00000330393:p.Ser435Leu		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S435L	ENST00000349533.6	37	c.1304	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250082	0.39797	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.0	4.09	0.47781	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.488742	0.22375	N	0.060897	T	0.20007	0.0481	L	0.44542	1.39	0.80722	D	1	B;B;B	0.30406	0.023;0.039;0.278	B;B;B	0.31191	0.038;0.106;0.125	T	0.08229	-1.0732	10	0.62326	D	0.03	-7.6402	9.3087	0.37891	0.1524:0.7691:0.0:0.0785	.	435;435;435	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	L	435	ENSP00000340884:S435L;ENSP00000330393:S435L;ENSP00000360099:S435L;ENSP00000360098:S435L;ENSP00000360097:S435L	ENSP00000340884:S435L	S	+	2	0	LEPR	65840132	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.078000	0.50096	1.107000	0.41642	0.460000	0.39030	TCA	LEPR	-	superfamily_Fibronectin_type3		0.294	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	C	NM_002303		66067544	1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	1.000	T	T	66067544	C	T	66067544	3	4	193	1	0	0	0	0	1	0	0	0	8748	838	29	1	1334	1	LEPR	1	66067544	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	12830492	66067544	183183077	22	36682										
COL24A1	255631	genome.wustl.edu	37	chr1	86591521	86591521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tggtttctaatagtaatggcAaatgagtgccattgctcatc	9	7	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:86591521A>G	ENST00000370571.2	-	3	864	c.498T>C	c.(496-498)ttT>ttC	p.F166F	COL24A1_ENST00000436319.1_Silent_p.F166F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	166	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAGTAATGGCAAATGAGTGCC	0.358																																																	0													58	53	55					1																	86591521		1847	4090	5937	SO:0001819	synonymous_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.498T>C	1.37:g.86591521A>G			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.F166	ENST00000370571.2	37	c.498	CCDS41353.1	1																																																																																			COL24A1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	A	NM_152890		86591521	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	silent	SNP	0.823	G	G	86591521	A	G	86591521	2	3	193	1	0	0	0	0	0	0	0	1	3688	127	5	5		5	COL24A1	1	86591521	Silent	SNP	A	TCGA-UC-A7PF-01A-11D-A351-09	20523977	86591521	162659100	23	36683										
LRRC8D	55144	genome.wustl.edu	37	chr1	90400119	90400119	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acctggatgtgctaaagcttGaactaattccagaagctaaa	8	8	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:90400119G>A	ENST00000337338.5	+	3	1899	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E498K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	498					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCTAAAGCTTGAACTAATTCC	0.498																																																	0													47	49	48					1																	90400119		2201	4300	6501	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1492G>A	1.37:g.90400119G>A	ENSP00000338887:p.Glu498Lys		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E498K	ENST00000337338.5	37	c.1492	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367721	0.82463	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.32272	1.46;1.46	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.60957	1.885	0.80722	D	1	D	0.55800	0.973	D	0.67725	0.953	T	0.07712	-1.0758	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	498	Q7L1W4	LRC8D_HUMAN	K	498	ENSP00000338887:E498K;ENSP00000378093:E498K	.	E	+	1	0	LRRC8D	90172707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	GAA	LRRC8D	-	NULL		0.498	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	G	NM_018103		90400119	1	no_errors	ENST00000337338	ensembl	human	known	70_37	missense	SNP	1.000	A	A	90400119	G	A	90400119	3	1	193	1	0	0	0	0	1	0	0	0	9047	1291	45	1	1494	1	LRRC8D	1	90400119	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3808598	90400119	158850502	24	36684										
SASS6	163786	genome.wustl.edu	37	chr1	100571329	100571329	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gttttaaatcttaccacattCaggttaggagaaattccact	6	8	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:100571329C>G	ENST00000287482.5	-	13	1679	c.1539G>C	c.(1537-1539)ctG>ctC	p.L513L	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.L346L	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	513					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTACCACATTCAGGTTAGGAG	0.383																																																	0													156	141	146					1																	100571329		2203	4300	6503	SO:0001819	synonymous_variant	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1539G>C	1.37:g.100571329C>G			D3DT55|Q8N3K0	Silent	SNP	NULL	p.L513	ENST00000287482.5	37	c.1539	CCDS764.1	1																																																																																			SASS6	-	NULL		0.383	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	C	NM_194292		100571329	-1	no_errors	ENST00000287482	ensembl	human	known	70_37	silent	SNP	0.388	G	G	100571329	C	G	100571329	2	3	193	1	0	0	0	0	0	0	0	1	13880	813	29	1		1	SASS6	1	100571329	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	10171210	100571329	148679292	25	36685										
GNAT2	2780	genome.wustl.edu	37	chr1	110148667	110148667	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atgatgcaggtgactccctcGaagcagtggatccacttctt	10	11	1	2	rs534677249	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:110148667G>A	ENST00000351050.3	-	6	831	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	215					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.F215F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGACTCCCTCGAAGCAGTGGA	0.507													G|||	2	0.000399361	0	0	5008	,	,		21206	0		0	False		,,,				2504	0.002																1	Substitution - coding silent(1)	breast(1)											127	115	119					1																	110148667		2203	4300	6503	SO:0001819	synonymous_variant	2780			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.645C>T	1.37:g.110148667G>A				Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.F215	ENST00000351050.3	37	c.645	CCDS803.1	1																																																																																			GNAT2	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su		0.507	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	G	NM_005272		110148667	-1	no_errors	ENST00000351050	ensembl	human	known	70_37	silent	SNP	1.000	A	A	110148667	G	A	110148667	2	1	193	1	0	0	0	0	0	0	0	1	6531	1049	37	1		1	GNAT2	1	110148667	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	9577338	110148667	139101954	26	36686										
SYT6	148281	genome.wustl.edu	37	chr1	114680163	114680163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agatggaggtttcccgagacAggtcagaggcctcaaagagg	15	8	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:114680163A>G	ENST00000610222.1	-	3	1171	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P	SYT6_ENST00000609117.1_Missense_Mutation_p.L257P|SYT6_ENST00000607941.1_Missense_Mutation_p.L257P|SYT6_ENST00000369547.1_Missense_Mutation_p.L257P|SYT6_ENST00000393296.1_Missense_Mutation_p.L342P			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	342					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCGAGACAGGTCAGAGGC	0.522																																																	0													107	98	101					1																	114680163		2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1025T>C	1.37:g.114680163A>G	ENSP00000476396:p.Leu342Pro		B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L342P	ENST00000610222.1	37	c.1025		1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306440	0.81247	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.46	5.46	0.80206	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.81179	2.53	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.03433	-1.1037	10	0.87932	D	0	.	15.5383	0.76021	1.0:0.0:0.0:0.0	.	342	Q5T7P8	SYT6_HUMAN	P	257;342;257;342	ENSP00000358560:L257P;ENSP00000376974:L342P;ENSP00000358559:L257P;ENSP00000358558:L342P	ENSP00000358558:L342P	L	-	2	0	SYT6	114481686	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.336000	0.96533	2.079000	0.62486	0.533000	0.62120	CTG	SYT6	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.522	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	A	NM_205848		114680163	-1	no_errors	ENST00000369545	ensembl	human	known	70_37	missense	SNP	1.000	G	G	114680163	A	G	114680163	3	3	193	1	0	0	0	0	1	0	0	0	15508	188	7	5	527	5	SYT6	1	114680163	Missense_Mutation	SNP	A	TCGA-UC-A7PF-01A-11D-A351-09	4531496	114680163	134570458	27	36687										
BCL9	607	genome.wustl.edu	37	chr1	147086292	147086292	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	accacactcgatgaccccatCaaatgctacagcccccaggt	6	17	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:147086292C>G	ENST00000234739.3	+	6	1177	c.437C>G	c.(436-438)tCa>tGa	p.S146*	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	146					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGACCCCATCAAATGCTACA	0.498			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													125	127	127					1																	147086292		2203	4300	6503	SO:0001587	stop_gained	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.437C>G	1.37:g.147086292C>G	ENSP00000234739:p.Ser146*		Q5T489	Nonsense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.S146*	ENST00000234739.3	37	c.437	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.692629	0.99451	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.55	5.55	0.83447	.	0.125315	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-16.7066	19.6982	0.96039	0.0:1.0:0.0:0.0	.	.	.	.	X	146	.	ENSP00000234739:S146X	S	+	2	0	BCL9	145552916	1.000000	0.71417	0.558000	0.28319	0.990000	0.78478	6.831000	0.75324	2.894000	0.99253	0.655000	0.94253	TCA	BCL9	-	NULL		0.498	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	C	NM_004326		147086292	1	no_errors	ENST00000234739	ensembl	human	known	70_37	nonsense	SNP	0.997	G	G	147086292	C	G	147086292	4	3	193	1	0	0	0	0	0	1	0	0	1382	838	29	1	447	1	BCL9	1	147086292	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	32406129	147086292	102164329	28	36688										
POGZ	23126	genome.wustl.edu	37	chr1	151381262	151381262	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aattttgtccttggcaaagaGaaactgcagccggcatttgt	10	8	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:151381262G>A	ENST00000271715.2	-	13	2283	c.1969C>T	c.(1969-1971)Ctc>Ttc	p.L657F	POGZ_ENST00000361398.3_Missense_Mutation_p.L604F|POGZ_ENST00000540984.1_Missense_Mutation_p.L19F|POGZ_ENST00000491586.1_Missense_Mutation_p.L613F|POGZ_ENST00000368863.2_Missense_Mutation_p.L562F|POGZ_ENST00000392723.1_Missense_Mutation_p.L604F|POGZ_ENST00000409503.1_Missense_Mutation_p.L648F|POGZ_ENST00000531094.1_Missense_Mutation_p.L595F	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	657					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGCAAAGAGAAACTGCAGC	0.423																																																	0													232	241	238					1																	151381262		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1969C>T	1.37:g.151381262G>A	ENSP00000271715:p.Leu657Phe		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.L657F	ENST00000271715.2	37	c.1969	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832500	0.71258	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.61158	5.77;5.79;5.77;5.76;5.78;5.78;0.8;0.13;0.9	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000013	T	0.62768	0.2455	L	0.38838	1.175	0.51767	D	0.999939	D;D;D;D;D;D	0.89917	0.999;0.995;1.0;0.999;0.997;0.999	D;P;D;D;D;D	0.85130	0.994;0.878;0.997;0.994;0.991;0.994	T	0.65438	-0.6168	10	0.66056	D	0.02	-17.3332	17.4627	0.87624	0.0:0.0:1.0:0.0	.	595;648;562;613;604;657	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	F	604;657;604;562;648;595;19;613;57	ENSP00000376484:L604F;ENSP00000271715:L657F;ENSP00000354467:L604F;ENSP00000357856:L562F;ENSP00000386836:L648F;ENSP00000431259:L595F;ENSP00000443547:L19F;ENSP00000418408:L613F;ENSP00000432295:L57F	ENSP00000271715:L657F	L	-	1	0	POGZ	149647886	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.675000	0.54605	2.706000	0.92434	0.561000	0.74099	CTC	POGZ	-	smart_Znf_C2H2-like		0.423	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	G	NM_207171		151381262	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	missense	SNP	1.000	A	A	151381262	G	A	151381262	3	1	193	1	0	0	0	0	1	0	0	0	12210	942	33	1	2291	1	POGZ	1	151381262	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4294970	151381262	97869359	29	36689										
FLG	2312	genome.wustl.edu	37	chr1	152281552	152281552	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	caagatggtttctggaagcaGacccagaccacctctcagag	10	12	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:152281552G>C	ENST00000368799.1	-	3	5845	c.5810C>G	c.(5809-5811)tCt>tGt	p.S1937C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1937	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1937Y(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)			TCTGGAAGCAGACCCAGACCA	0.567									Ichthyosis																																								1	Substitution - Missense(1)	lung(1)											221	215	217					1																	152281552		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5810C>G	1.37:g.152281552G>C	ENSP00000357789:p.Ser1937Cys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S1937C	ENST00000368799.1	37	c.5810	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	7.123	0.578294	0.13686	.	.	ENSG00000143631	ENST00000368799	T	0.02236	4.38	2.42	1.45	0.22620	.	.	.	.	.	T	0.03095	0.0091	M	0.76002	2.32	0.09310	N	1	D	0.67145	0.996	P	0.60012	0.867	T	0.38993	-0.9635	9	0.49607	T	0.09	.	6.3234	0.21231	0.0:0.0:0.7055:0.2945	.	1937	P20930	FILA_HUMAN	C	1937	ENSP00000357789:S1937C	ENSP00000357789:S1937C	S	-	2	0	FLG	150548176	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.080000	0.14802	0.551000	0.29008	0.586000	0.80456	TCT	FLG	-	NULL		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152281552	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	C	C	152281552	G	C	152281552	3	2	193	1	0	0	0	0	1	0	0	0	5940	942	33	1	6379	1	FLG	1	152281552	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	900290	152281552	96969069	30	36690										
CLK2	1196	genome.wustl.edu	37	chr1	155239497	155239497	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cctccggtcggacgaacgatCatcataactgctgttggata	10	11	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:155239497C>T	ENST00000368361.4	-	3	496	c.181G>A	c.(181-183)Gat>Aat	p.D61N	CLK2_ENST00000355560.4_Missense_Mutation_p.D60N|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000361168.5_Missense_Mutation_p.D61N|CLK2_ENST00000536801.1_Missense_Mutation_p.D61N			P49760	CLK2_HUMAN	CDC-like kinase 2	61					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GACGAACGATCATCATAACTG	0.498								Other conserved DNA damage response genes																																									0													103	91	95					1																	155239497		2203	4300	6503	SO:0001583	missense	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.181G>A	1.37:g.155239497C>T	ENSP00000357345:p.Asp61Asn		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D61N	ENST00000368361.4	37	c.181		1	.	.	.	.	.	.	.	.	.	.	.	8.750	0.920975	0.17982	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.52057	0.68;0.69;0.69;0.69	4.96	4.96	0.65561	.	0.190289	0.56097	D	0.000036	T	0.13200	0.0320	N	0.02011	-0.69	0.41831	D	0.990074	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.04737	-1.0930	10	0.40728	T	0.16	.	16.9692	0.86294	0.0:1.0:0.0:0.0	.	61;61	P49760;P49760-3	CLK2_HUMAN;.	N	61;61;60;61	ENSP00000354856:D61N;ENSP00000357345:D61N;ENSP00000347759:D60N;ENSP00000441023:D61N	ENSP00000347759:D60N	D	-	1	0	CLK2	153506121	1.000000	0.71417	0.998000	0.56505	0.518000	0.34316	4.900000	0.63252	2.595000	0.87683	0.558000	0.71614	GAT	CLK2	-	NULL		0.498	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	C	NM_003993		155239497	-1	no_errors	ENST00000368361	ensembl	human	known	70_37	missense	SNP	1.000	T	T	155239497	C	T	155239497	3	4	193	1	0	0	0	0	1	0	0	0	3542	826	29	1	1359	1	CLK2	1	155239497	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2957945	155239497	94011124	31	36691										
HSPA6	3310	genome.wustl.edu	37	chr1	161495804	161495804	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gagggtgagagggccatgacCaaggacaacaacctgctggg	16	9	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:161495804C>G	ENST00000309758.4	+	1	1769	c.1356C>G	c.(1354-1356)acC>acG	p.T452T	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	452					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGGCCATGACCAAGGACAACA	0.557																																																	0													92	89	90					1																	161495804		2203	4300	6503	SO:0001819	synonymous_variant	3310				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1356C>G	1.37:g.161495804C>G			Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.T452	ENST00000309758.4	37	c.1356	CCDS1231.1	1																																																																																			HSPA6	-	pfam_Hsp_70_fam		0.557	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	C	NM_002155		161495804	1	no_errors	ENST00000309758	ensembl	human	known	70_37	silent	SNP	1.000	G	G	161495804	C	G	161495804	2	3	193	1	0	0	0	0	0	0	0	1	7435	581	21	4		4	HSPA6	1	161495804	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	6256307	161495804	87754817	32	36692										
SELL	6402	genome.wustl.edu	37	chr1	169676572	169676572	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	attctccatggccactgcatGaccagggctggcaagaagct	11	12	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:169676572G>C	ENST00000236147.4	-	4	690	c.530C>G	c.(529-531)tCa>tGa	p.S177*	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	164	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GCCACTGCATGACCAGGGCTG	0.388																																																	0													73	69	70					1																	169676572		1883	4124	6007	SO:0001587	stop_gained	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.530C>G	1.37:g.169676572G>C	ENSP00000236147:p.Ser177*		B2R6Q8|P15023|Q9UJ43	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.S177*	ENST00000236147.4	37	c.530	CCDS53427.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.910310	0.97093	.	.	ENSG00000188404	ENST00000236147	.	.	.	5.61	3.67	0.42095	.	0.183680	0.26563	N	0.023662	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-23.293	8.1111	0.30916	0.1206:0.0:0.7293:0.1501	.	.	.	.	X	177	.	ENSP00000236147:S177X	S	-	2	0	SELL	167943196	0.999000	0.42202	0.961000	0.40146	0.867000	0.49689	3.364000	0.52328	1.456000	0.47831	0.655000	0.94253	TCA	SELL	-	pfam_EG-like_dom,smart_EG-like_dom,pirsf_L-selectin,pfscan_EG-like_dom		0.388	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	G	NM_000655		169676572	-1	no_errors	ENST00000236147	ensembl	human	known	70_37	nonsense	SNP	0.861	C	C	169676572	G	C	169676572	4	2	193	1	0	0	0	0	0	1	0	0	14046	1294	45	1	651	1	SELL	1	169676572	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	8180768	169676572	79574049	33	36693										
KIFAP3	22920	genome.wustl.edu	37	chr1	170024468	170024468	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tttttgacattcttttcgttCtcccaacatggggtccccca	6	13	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:170024468C>T	ENST00000361580.2	-	2	369	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000367765.1_Missense_Mutation_p.E8K|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	48					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTTTTCGTTCTCCCAACATG	0.338																																																	0													92	90	90					1																	170024468		2203	4300	6503	SO:0001583	missense	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.142G>A	1.37:g.170024468C>T	ENSP00000354560:p.Glu48Lys		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E48K	ENST00000361580.2	37	c.142	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.190487	0.94923	.	.	ENSG00000075945	ENST00000361580;ENST00000367765	T;T	0.56941	0.43;0.43	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.69993	-0.4994	9	.	.	.	-22.0989	18.318	0.90227	0.0:1.0:0.0:0.0	.	48	Q92845	KIFA3_HUMAN	K	48;8	ENSP00000354560:E48K;ENSP00000356739:E8K	.	E	-	1	0	KIFAP3	168291092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.422000	0.82143	0.591000	0.81541	GAA	KIFAP3	-	NULL		0.338	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	C	NM_014970		170024468	-1	no_errors	ENST00000361580	ensembl	human	known	70_37	missense	SNP	1.000	T	T	170024468	C	T	170024468	3	4	193	1	0	0	0	0	1	0	0	0	8331	922	32	1	2312	1	KIFAP3	1	170024468	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	347896	170024468	79226153	34	36694										
RGL1	23179	genome.wustl.edu	37	chr1	183861279	183861279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	taataaccatttgaccagccGagaactactgatgaaggtga	9	8	0	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:183861279G>A	ENST00000360851.3	+	9	1302	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	RGL1_ENST00000536277.1_Missense_Mutation_p.R373Q|RGL1_ENST00000539189.1_Missense_Mutation_p.R375Q|RGL1_ENST00000304685.4_Missense_Mutation_p.R410Q			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	375	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTGACCAGCCGAGAACTACTG	0.408																																																	0													83	78	79					1																	183861279		2203	4299	6502	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1124G>A	1.37:g.183861279G>A	ENSP00000354097:p.Arg375Gln		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R410Q	ENST00000360851.3	37	c.1229		1	.	.	.	.	.	.	.	.	.	.	g	35	5.584793	0.96578	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.25	5.25	0.73442	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.85296	0.5664	H	0.94886	3.595	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.947;1.0;1.0	D;D;P;D;D	0.85130	0.995;0.997;0.655;0.997;0.997	D	0.88512	0.3090	10	0.51188	T	0.08	.	18.8387	0.92172	0.0:0.0:1.0:0.0	.	375;373;180;375;410	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	Q	410;410;373;180;375;375	ENSP00000303192:R410Q;ENSP00000356501:R410Q;ENSP00000438662:R373Q;ENSP00000354097:R375Q;ENSP00000437355:R375Q	ENSP00000303192:R410Q	R	+	2	0	RGL1	182127902	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.484000	0.97940	2.427000	0.82271	0.558000	0.71614	CGA	RGL1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.408	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	G	NM_015149		183861279	1	no_errors	ENST00000304685	ensembl	human	known	70_37	missense	SNP	1.000	A	A	183861279	G	A	183861279	3	1	193	1	0	0	0	0	1	0	0	0	13306	1058	37	1	1263	1	RGL1	1	183861279	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	13836811	183861279	65389342	35	36695										
CFH	3075	genome.wustl.edu	37	chr1	196711155	196711155	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgtaacatgcattaatagcaGatggacaggaaggccaacat	10	7	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:196711155G>A	ENST00000367429.4	+	19	3347	c.3107G>A	c.(3106-3108)aGa>aAa	p.R1036K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1036	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTAATAGCAGATGGACAGGA	0.433																																																	0													106	94	98					1																	196711155		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3107G>A	1.37:g.196711155G>A	ENSP00000356399:p.Arg1036Lys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R1036K	ENST00000367429.4	37	c.3107	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	8.646	0.897100	0.17686	.	.	ENSG00000000971	ENST00000367429	T	0.64618	-0.11	5.86	-10.8	0.00216	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.25975	0.0633	N	0.10972	0.075	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.18241	-1.0343	9	0.02654	T	1	.	3.9812	0.09495	0.2452:0.2007:0.4554:0.0987	.	1036	P08603	CFAH_HUMAN	K	1036	ENSP00000356399:R1036K	ENSP00000356399:R1036K	R	+	2	0	CFH	194977778	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.655000	0.01982	-1.670000	0.01468	-0.894000	0.02916	AGA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.433	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196711155	1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.000	A	A	196711155	G	A	196711155	3	1	193	1	0	0	0	0	1	0	0	0	3288	942	33	1	3199	1	CFH	1	196711155	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	12849876	196711155	52539466	36	36696										
IGFN1	91156	genome.wustl.edu	37	chr1	201177197	201177197	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgacaccaggaattgggcctCtgcatgccaggcaggcatgg	14	11	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:201177197C>T	ENST00000335211.4	+	12	3306	c.3176C>T	c.(3175-3177)tCt>tTt	p.S1059F	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AATTGGGCCTCTGCATGCCAG	0.597																																																	0													51	51	51					1																	201177197		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3176C>T	1.37:g.201177197C>T	ENSP00000334714:p.Ser1059Phe		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S1059F	ENST00000335211.4	37	c.3176	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152483	0.38021	.	.	ENSG00000163395	ENST00000335211	D	0.89875	-2.58	3.8	-5.02	0.02982	.	.	.	.	.	T	0.71151	0.3306	N	0.08118	0	0.23473	N	0.997607	.	.	.	.	.	.	T	0.60362	-0.7278	6	.	.	.	.	5.9784	0.19393	0.3404:0.2809:0.3788:0.0	.	.	.	.	F	1059	ENSP00000334714:S1059F	.	S	+	2	0	IGFN1	199443820	.	.	0.004000	0.12327	0.114000	0.19823	.	.	-0.793000	0.04475	-0.467000	0.05162	TCT	IGFN1	-	NULL		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		C	NM_178275		201177197	1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.005	T	T	201177197	C	T	201177197	3	4	193	1	0	0	0	0	1	0	0	0	7610	913	32	1	3218	1	IGFN1	1	201177197	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4466042	201177197	48073424	37	36697										
PPP1R12B	4660	genome.wustl.edu	37	chr1	202399874	202399874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tccagcttcgaagtgaaaagGagacacggaataaactcatt	9	8	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:202399874G>C	ENST00000608999.1	+	7	1090	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.E313Q|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.E313Q|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E313Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	313					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGTGAAAAGGAGACACGGAA	0.388																																																	0													111	104	107					1																	202399874		2203	4300	6503	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.937G>C	1.37:g.202399874G>C	ENSP00000476755:p.Glu313Gln		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E313Q	ENST00000608999.1	37	c.937	CCDS1426.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.63|13.63	2.294344|2.294344	0.40594|0.40594	.|.	.|.	ENSG00000077157|ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764|ENST00000466968	T;T;T;T|.	0.70749|.	0.94;0.96;-0.51;-0.4|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Ankyrin repeat-containing domain (1);|.	0.101299|.	0.42821|.	D|.	0.000651|.	T|T	0.70307|0.70307	0.3209|0.3209	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	B;B;P;D|.	0.61080|.	0.041;0.451;0.476;0.989|.	B;B;B;P|.	0.54965|.	0.025;0.109;0.156;0.765|.	T|T	0.67845|0.67845	-0.5565|-0.5565	10|5	0.56958|.	D|.	0.05|.	.|.	15.1014|15.1014	0.72279|0.72279	0.0:0.1412:0.8588:0.0|0.0:0.1412:0.8588:0.0	.|.	313;313;313;313|.	O60237-2;O60237;F8W8M3;Q2TAI8|.	.;MYPT2_HUMAN;.;.|.	Q|A	313|108	ENSP00000384496:E313Q;ENSP00000337897:E313Q;ENSP00000417159:E313Q;ENSP00000349206:E313Q|.	ENSP00000337897:E313Q|.	E|G	+|+	1|2	0|0	PPP1R12B|PPP1R12B	200666497|200666497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.676000|4.676000	0.61627|0.61627	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GAG|GGA	PPP1R12B	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.388	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	G	NM_032105		202399874	1	no_errors	ENST00000336894	ensembl	human	known	70_37	missense	SNP	1.000	C	C	202399874	G	C	202399874	3	2	193	1	0	0	0	0	1	0	0	0	12382	1175	41	1	963	1	PPP1R12B	1	202399874	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1222677	202399874	46850747	38	36698										
KDM5B	10765	genome.wustl.edu	37	chr1	202700053	202700053	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcaccttctcactgctgggtCtcactggtgagcttcggtca	10	13	4	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:202700053C>G	ENST00000367265.3	-	25	5324	c.4160G>C	c.(4159-4161)aGa>aCa	p.R1387T	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1423T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1387					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACTGCTGGGTCTCACTGGTGA	0.517																																																	0													101	81	88					1																	202700053		2203	4300	6503	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4160G>C	1.37:g.202700053C>G	ENSP00000356234:p.Arg1387Thr		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R1387T	ENST00000367265.3	37	c.4160	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226881	0.22542	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.85484	-1.85;-1.66;-1.99	5.93	5.02	0.67125	.	0.407176	0.25869	N	0.027764	T	0.70254	0.3203	N	0.12961	0.28	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.52689	-0.8542	10	0.11794	T	0.64	-2.5186	10.1248	0.42643	0.0:0.7909:0.1372:0.0719	.	1423;1387	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	T	1387;1229;1423;1229	ENSP00000356234:R1387T;ENSP00000356233:R1423T;ENSP00000235790:R1229T	ENSP00000235790:R1229T	R	-	2	0	KDM5B	200966676	0.002000	0.14202	0.004000	0.12327	0.747000	0.42532	1.410000	0.34691	1.512000	0.48834	0.561000	0.74099	AGA	KDM5B	-	NULL		0.517	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	C	NM_006618		202700053	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	missense	SNP	0.003	G	G	202700053	C	G	202700053	3	3	193	1	0	0	0	0	1	0	0	0	8154	913	32	1	486	1	KDM5B	1	202700053	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	300179	202700053	46550568	39	36699										
ELK4	2005	genome.wustl.edu	37	chr1	205592829	205592829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cataatagtatctgagggctCggctgagtttgtcataattc	10	7	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:205592829C>T	ENST00000357992.4	-	2	521	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	ELK4_ENST00000289703.4_Missense_Mutation_p.R61Q|ELK4_ENST00000468523.1_5'UTR	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	61					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTGAGGGCTCGGCTGAGTTT	0.453			T	SLC45A3	prostate																																			Dom	yes		1	1q32	2005	"ELK4, ETS-domain protein (SRF accessory protein 1)"		E	0													208	219	215					1																	205592829		2203	4300	6503	SO:0001583	missense	2005			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.182G>A	1.37:g.205592829C>T	ENSP00000350681:p.Arg61Gln		P28323|Q6GSJ2	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R61Q	ENST00000357992.4	37	c.182	CCDS1456.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.760154	0.96898	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.70399	-0.48;-0.48	5.58	5.58	0.84498	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.91918	0.5545	10	0.87932	D	0	.	18.4943	0.90858	0.0:1.0:0.0:0.0	.	61;61	P28324-2;P28324	.;ELK4_HUMAN	Q	151;61;61	ENSP00000350681:R61Q;ENSP00000289703:R61Q	ENSP00000289703:R61Q	R	-	2	0	ELK4	203859452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.778000	0.95560	0.655000	0.94253	CGA	ELK4	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.453	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK4	HGNC	protein_coding	OTTHUMT00000090615.1	C	NM_021795		205592829	-1	no_errors	ENST00000357992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	205592829	C	T	205592829	3	4	193	1	0	0	0	0	1	0	0	0	5073	884	31	1	1267	1	ELK4	1	205592829	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2892776	205592829	43657792	40	36700										
SYT14	255928	genome.wustl.edu	37	chr1	210111619	210111619	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcgagcgcatcatggcgattGaaggtaagtggaggctgaca	16	7	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:210111619G>C	ENST00000472886.1	+	1	24	c.10G>C	c.(10-12)Gaa>Caa	p.E4Q	SYT14_ENST00000399639.2_Missense_Mutation_p.E4Q|SYT14_ENST00000367019.1_Missense_Mutation_p.E4Q|SYT14_ENST00000534859.1_Missense_Mutation_p.E4Q|SYT14_ENST00000537238.1_5'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.L8F			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	4					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CATGGCGATTGAAGGTAAGTG	0.731																																																	0													23	21	22					1																	210111619		2194	4278	6472	SO:0001583	missense	255928			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.10G>C	1.37:g.210111619G>C	ENSP00000418901:p.Glu4Gln		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L8F	ENST00000472886.1	37	c.24	CCDS31014.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.51|13.51	2.258958|2.258958	0.39896|0.39896	.|.	.|.	ENSG00000143469|ENSG00000143469	ENST00000534859;ENST00000399639;ENST00000367019;ENST00000472886|ENST00000422431	T;T;T;T|T	0.17854|0.07216	3.25;2.25;3.26;3.52|3.21	2.7|2.7	2.7|2.7	0.31948|0.31948	.|.	1.171330|.	0.06581|.	U|.	0.750410|.	T|T	0.04634|0.04634	0.0126|0.0126	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|B	0.11235|0.14805	0.004;0.003|0.011	B;B|B	0.09377|0.12837	0.004;0.004|0.008	T|T	0.32052|0.32052	-0.9921|-0.9921	10|9	0.54805|0.87932	T|D	0.06|0	.|.	8.9462|8.9462	0.35760|0.35760	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;4|8	Q8NB59;Q8NB59-6|F5H426	SYT14_HUMAN;.|.	Q|F	4|8	ENSP00000442891:E4Q;ENSP00000445837:E4Q;ENSP00000355986:E4Q;ENSP00000418901:E4Q|ENSP00000389039:L8F	ENSP00000355986:E4Q|ENSP00000389039:L8F	E|L	+|+	1|3	0|2	SYT14|SYT14	208178242|208178242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	2.557000|2.557000	0.45871|0.45871	1.497000|1.497000	0.48584|0.48584	0.313000|0.313000	0.20887|0.20887	GAA|TTG	SYT14	-	NULL		0.731	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	HGNC	protein_coding	OTTHUMT00000089124.1	G	NM_153262		210111619	1	no_errors	ENST00000422431	ensembl	human	known	70_37	missense	SNP	1.000	C	C	210111619	G	C	210111619	3	2	193	1	0	0	0	0	1	0	0	0	15500	1291	45	1	26	1	SYT14	1	210111619	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4518790	210111619	39139002	41	36701										
INTS7	25896	genome.wustl.edu	37	chr1	212118246	212118246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	actccctctacctttagcgcCagctgctggttattctggac	8	14	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:212118246C>T	ENST00000366994.3	-	19	2585	c.2481G>A	c.(2479-2481)ctG>ctA	p.L827L	INTS7_ENST00000366993.3_Silent_p.L813L|INTS7_ENST00000440600.2_Silent_p.L778L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.L807L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	827					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCTTTAGCGCCAGCTGCTGGT	0.502																																																	0													109	101	103					1																	212118246		2203	4300	6503	SO:0001819	synonymous_variant	25896			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2481G>A	1.37:g.212118246C>T			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	superfamily_ARM-type_fold	p.L827	ENST00000366994.3	37	c.2481	CCDS1501.1	1																																																																																			INTS7	-	NULL		0.502	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	C	NM_015434		212118246	-1	no_errors	ENST00000366994	ensembl	human	known	70_37	silent	SNP	1.000	T	T	212118246	C	T	212118246	2	4	193	1	0	0	0	0	0	0	0	1	7803	581	21	4		4	INTS7	1	212118246	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2006627	212118246	37132375	42	36702										
ESRRG	2104	genome.wustl.edu	37	chr1	216850524	216850524	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaacacagtctcttgggcatCgagttgagcatgtattcaca	9	9	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:216850524C>T	ENST00000408911.3	-	2	519	c.366G>A	c.(364-366)tcG>tcA	p.S122S	ESRRG_ENST00000493603.1_Silent_p.S99S|ESRRG_ENST00000487276.1_Silent_p.S99S|ESRRG_ENST00000361525.3_Silent_p.S99S|ESRRG_ENST00000493748.1_Silent_p.S99S|ESRRG_ENST00000366938.2_Silent_p.S99S|ESRRG_ENST00000391890.3_Silent_p.S99S|ESRRG_ENST00000366937.1_Silent_p.S127S|ESRRG_ENST00000463665.1_Silent_p.S99S|ESRRG_ENST00000366940.2_Silent_p.S99S|ESRRG_ENST00000360012.3_Silent_p.S99S|ESRRG_ENST00000361395.2_Silent_p.S99S|ESRRG_ENST00000359162.2_Silent_p.S99S	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	122					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTTGGGCATCGAGTTGAGCA	0.498																																																	0													223	197	206					1																	216850524		2203	4300	6503	SO:0001819	synonymous_variant	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.366G>A	1.37:g.216850524C>T			A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.S122	ENST00000408911.3	37	c.366	CCDS41468.1	1																																																																																			ESRRG	-	prints_Retinoic_acid_rcpt		0.498	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	C	NM_206595		216850524	-1	no_errors	ENST00000408911	ensembl	human	known	70_37	silent	SNP	0.972	T	T	216850524	C	T	216850524	2	4	193	1	0	0	0	0	0	0	0	1	5274	871	31	1		1	ESRRG	1	216850524	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4732278	216850524	32400097	43	36703										
MTR	4548	genome.wustl.edu	37	chr1	237013777	237013777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgggactggaatggaggaacAcaacttgtatgccattaatt	11	6	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:237013777A>C	ENST00000366577.5	+	16	2043	c.1649A>C	c.(1648-1650)cAc>cCc	p.H550P	MTR_ENST00000535889.1_Missense_Mutation_p.H550P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	550	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ATGGAGGAACACAACTTGTAT	0.408																																																	0													139	123	129					1																	237013777		2203	4300	6503	SO:0001583	missense	4548			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1649A>C	1.37:g.237013777A>C	ENSP00000355536:p.His550Pro		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.H550P	ENST00000366577.5	37	c.1649	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509404	0.64522	.	.	ENSG00000116984	ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.84589	-1.87;-1.87;-1.87	4.87	4.87	0.63330	Dihydropteroate synthase-like (1);Pterin-binding (3);	0.000000	0.85682	D	0.000000	D	0.94676	0.8283	H	0.96430	3.82	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96251	0.9183	10	0.87932	D	0	-18.4873	14.6471	0.68769	1.0:0.0:0.0:0.0	.	550;550	B7ZLW7;Q99707	.;METH_HUMAN	P	550;550;104	ENSP00000355536:H550P;ENSP00000441845:H550P;ENSP00000355535:H104P	ENSP00000355535:H104P	H	+	2	0	MTR	235080400	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	8.865000	0.92300	2.026000	0.59711	0.533000	0.62120	CAC	MTR	-	pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH		0.408	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	A	NM_000254		237013777	1	no_errors	ENST00000366577	ensembl	human	known	70_37	missense	SNP	1.000	C	C	237013777	A	C	237013777	3	2	193	1	0	0	0	0	1	0	0	0	9981	159	6	5	1711	5	MTR	1	237013777	Missense_Mutation	SNP	A	TCGA-UC-A7PF-01A-11D-A351-09	20163253	237013777	12236844	44	36704										
KIF26B	55083	genome.wustl.edu	37	chr1	245850611	245850611	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaatttgaggacccgtggctGaaacgagaagaggaagtgaa	14	5	0	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:245850611G>A	ENST00000407071.2	+	12	4766	c.4326G>A	c.(4324-4326)ctG>ctA	p.L1442L	KIF26B_ENST00000366518.4_Silent_p.L1061L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1442					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACCCGTGGCTGAAACGAGAAG	0.547																																																	0													16	19	18					1																	245850611		1957	4157	6114	SO:0001819	synonymous_variant	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4326G>A	1.37:g.245850611G>A			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1442	ENST00000407071.2	37	c.4326	CCDS44342.1	1																																																																																			KIF26B	-	NULL		0.547	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245850611	1	no_errors	ENST00000407071	ensembl	human	known	70_37	silent	SNP	0.123	A	A	245850611	G	A	245850611	2	1	193	1	0	0	0	0	0	0	0	1	8315	1277	45	1		1	KIF26B	1	245850611	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	8836834	245850611	3400010	45	36705										
AHCTF1	25909	genome.wustl.edu	37	chr1	247013291	247013291	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tatttcttgtagatctccttCtaatgctgggagcttctttc	7	9	4	1	rs532869215		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:247013291C>G	ENST00000391829.2	-	33	6140	c.6017G>C	c.(6016-6018)aGa>aCa	p.R2006T	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2041T|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2015T			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2006	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGATCTCCTTCTAATGCTGGG	0.403													T|||	1	0.000199681	0	0	5008	,	,		17397	0.001		0	False		,,,				2504	0				Colon(145;197 1800 4745 15099 26333)												0													81	80	80					1																	247013291		2203	4300	6503	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6017G>C	1.37:g.247013291C>G	ENSP00000375705:p.Arg2006Thr		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.R2015T	ENST00000391829.2	37	c.6044		1	.	.	.	.	.	.	.	.	.	.	T	0.666	-0.803888	0.02819	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34667	1.35;1.35;1.35	4.3	-1.51	0.08664	.	1.024300	0.07801	N	0.956460	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30446	-0.9978	10	0.18276	T	0.48	-1.0E-4	9.9894	0.41860	0.0:0.0915:0.669:0.2395	.	867;2041;2006	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	T	2041;2015;2006	ENSP00000355464:R2041T;ENSP00000355465:R2015T;ENSP00000375705:R2006T	ENSP00000355465:R2015T	R	-	2	0	AHCTF1	245079914	0.056000	0.20664	0.003000	0.11579	0.012000	0.07955	-0.187000	0.09656	-0.403000	0.07622	-0.254000	0.11334	AGA	AHCTF1	-	NULL		0.403	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247013291	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	0.007	G	G	247013291	C	G	247013291	3	3	193	1	0	0	0	0	1	0	0	0	408	913	32	1	799	1	AHCTF1	1	247013291	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1162680	247013291	2237330	46	36706										
OR2W5	441932	genome.wustl.edu	37	chr1	247654732	247654732	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cacggctgtgtggcccaactCtacatctacatgatgctggg	11	12	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:247654732C>G	ENST00000522351.1	+	0	363							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGCCCAACTCTACATCTACA	0.577																																																	0													90	90	90					1																	247654732		2203	4300	6503			441932					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654732C>G			B9EH85	RNA	SNP	-	NULL	ENST00000522351.1	37	NULL		1																																																																																			OR2W5	-	-		0.577	OR2W5-002	KNOWN	basic	processed_transcript	OR2W5	HGNC	pseudogene	OTTHUMT00000375789.1	C	NM_001004698		247654732	1	no_errors	ENST00000522351	ensembl	human	known	70_37	rna	SNP	0.001	G	G	247654732	C	G	247654732	1	3	193	0	1	0	0	0	0	0	0	0	11058	900	32	1		1	OR2W5	1	247654732	RNA	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	641441	247654732	1595889	47	36707										
OR2M2	391194	genome.wustl.edu	37	chr1	248343443	248343443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gttctcctcatctacctggaCacccagctccacacccccat	4	20	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:248343443C>A	ENST00000359682.2	+	1	156	c.156C>A	c.(154-156)gaC>gaA	p.D52E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACCTGGACACCCAGCTCC	0.537																																																	0													309	294	299					1																	248343443		2203	4298	6501	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.156C>A	1.37:g.248343443C>A	ENSP00000352710:p.Asp52Glu		A3KFT4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D52E	ENST00000359682.2	37	c.156	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	c	9.293	1.051164	0.19827	.	.	ENSG00000198601	ENST00000359682	T	0.00856	5.61	2.03	-1.31	0.09230	GPCR, rhodopsin-like superfamily (1);	0.536026	0.13874	U	0.356800	T	0.01870	0.0059	M	0.75884	2.315	0.09310	N	1	B	0.27679	0.185	B	0.36504	0.226	T	0.31641	-0.9936	10	0.62326	D	0.03	.	7.8992	0.29725	0.0:0.5373:0.0:0.4627	.	52	Q96R28	OR2M2_HUMAN	E	52	ENSP00000352710:D52E	ENSP00000352710:D52E	D	+	3	2	OR2M2	246410066	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.464000	0.06688	-0.154000	0.11118	-0.391000	0.06502	GAC	OR2M2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.537	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	C	NM_001004688		248343443	1	no_errors	ENST00000359682	ensembl	human	known	70_37	missense	SNP	0.000	A	A	248343443	C	A	248343443	3	1	193	1	0	0	0	0	1	0	0	0	11034	477	17	4	158	4	OR2M2	1	248343443	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	688711	248343443	907178	48	36708										
CAPN13	92291	genome.wustl.edu	37	chr2	30980990	30980990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agataatttcttcccagcccCttcggtattgaatctgtaaa	6	10	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:30980990C>T	ENST00000295055.8	-	8	964	c.788G>A	c.(787-789)aGg>aAg	p.R263K	CAPN13_ENST00000534090.2_Missense_Mutation_p.R263K|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	263	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTCCCAGCCCCTTCGGTATTG	0.512																																																	0													34	38	36					2																	30980990		1844	4093	5937	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.788G>A	2.37:g.30980990C>T	ENSP00000295055:p.Arg263Lys		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R263K	ENST00000295055.8	37	c.788	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	1.218	-0.627781	0.03610	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.15017	2.46;2.46	4.86	-1.97	0.07503	Peptidase C2, calpain, catalytic domain (3);	0.933275	0.09214	N	0.832801	T	0.10981	0.0268	L	0.41492	1.28	0.09310	N	1	B	0.23249	0.082	B	0.21546	0.035	T	0.38178	-0.9673	10	0.44086	T	0.13	.	1.02	0.01516	0.1461:0.3029:0.2859:0.2651	.	263	Q6MZZ7	CAN13_HUMAN	K	263	ENSP00000295055:R263K;ENSP00000431298:R263K	ENSP00000295055:R263K	R	-	2	0	CAPN13	30834494	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.157000	0.10085	-0.120000	0.11809	-0.291000	0.09656	AGG	CAPN13	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.512	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	C	NM_144575		30980990	-1	no_errors	ENST00000295055	ensembl	human	known	70_37	missense	SNP	0.000	T	T	30980990	C	T	30980990	3	4	193	1	0	0	0	0	1	0	0	0	2631	681	24	4	1281	4	CAPN13	2	30980990	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		30980990	212218383	49	36709										
HEATR5B	54497	genome.wustl.edu	37	chr2	37215840	37215840	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttcaagaacttttattccttCttgaaccgctaaaagctcta	4	10	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:37215840C>T	ENST00000233099.5	-	35	5955	c.5860G>A	c.(5860-5862)Gaa>Aaa	p.E1954K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E1865K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1954						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTTATTCCTTCTTGAACCGCT	0.343																																																	0													74	73	74					2																	37215840		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5860G>A	2.37:g.37215840C>T	ENSP00000233099:p.Glu1954Lys		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1954K	ENST00000233099.5	37	c.5860	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968332	0.92855	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	T;T	0.58797	0.6;0.31	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.050225	0.85682	N	0.000000	T	0.67088	0.2856	M	0.78456	2.415	0.37727	D	0.92512	B;B	0.24043	0.096;0.096	B;B	0.35607	0.206;0.206	T	0.71269	-0.4643	10	0.59425	D	0.04	-14.5063	18.7292	0.91728	0.0:1.0:0.0:0.0	.	1954;1954	Q9P2D3;B9EK47	HTR5B_HUMAN;.	K	55;1954;1865	ENSP00000233099:E1954K;ENSP00000346531:E1865K	ENSP00000233099:E1954K	E	-	1	0	HEATR5B	37069344	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.528000	0.81941	2.500000	0.84329	0.484000	0.47621	GAA	HEATR5B	-	superfamily_ARM-type_fold		0.343	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	C	NM_019024		37215840	-1	no_errors	ENST00000233099	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37215840	C	T	37215840	3	4	193	1	0	0	0	0	1	0	0	0	7052	922	32	1	363	1	HEATR5B	2	37215840	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	6234850	37215840	205983533	50	36710										
ABCG5	64240	genome.wustl.edu	37	chr2	44051059	44051059	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgtgggcacttacacagattCacagcgttcagcatgcctgt	10	12	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:44051059C>T	ENST00000260645.1	-	9	1456	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	ABCG5_ENST00000543989.1_Silent_p.V44V|ABCG5_ENST00000405322.1_Silent_p.V268V	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	439	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TACACAGATTCACAGCGTTCA	0.522																																																	0													75	60	65					2																	44051059		2203	4300	6503	SO:0001819	synonymous_variant	64240			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1317G>A	2.37:g.44051059C>T			Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V439	ENST00000260645.1	37	c.1317	CCDS1814.1	2																																																																																			ABCG5	-	pfam_ABC_2_trans		0.522	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1	C	NM_022436		44051059	-1	no_errors	ENST00000260645	ensembl	human	known	70_37	silent	SNP	0.813	T	T	44051059	C	T	44051059	2	4	193	1	0	0	0	0	0	0	0	1	71	813	29	1		1	ABCG5	2	44051059	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	6835219	44051059	199148314	51	36711										
EPAS1	2034	genome.wustl.edu	37	chr2	46574022	46574022	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctccacttaggagtagctcgGagaggaggaaggagaagtcc	15	8	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:46574022G>C	ENST00000263734.3	+	2	547	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	13					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGTAGCTCGGAGAGGAGGAA	0.612																																																	0													49	55	53					2																	46574022		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.37G>C	2.37:g.46574022G>C	ENSP00000263734:p.Glu13Gln		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.E13Q	ENST00000263734.3	37	c.37	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783642	0.90282	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.21543	2.0;2.0	4.86	4.86	0.63082	Helix-loop-helix DNA-binding (2);	0.158057	0.56097	D	0.000037	T	0.51839	0.1698	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59204	-0.7498	10	0.87932	D	0	.	18.1948	0.89818	0.0:0.0:1.0:0.0	.	13	Q99814	EPAS1_HUMAN	Q	13	ENSP00000406137:E13Q;ENSP00000263734:E13Q	ENSP00000263734:E13Q	E	+	1	0	EPAS1	46427526	1.000000	0.71417	0.956000	0.39512	0.692000	0.40212	9.519000	0.98025	2.521000	0.84997	0.561000	0.74099	GAG	EPAS1	-	superfamily_HLH_dom,pfscan_HLH_dom		0.612	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	G	NM_001430		46574022	1	no_errors	ENST00000263734	ensembl	human	known	70_37	missense	SNP	1.000	C	C	46574022	G	C	46574022	3	2	193	1	0	0	0	0	1	0	0	0	5162	1175	41	1	43	1	EPAS1	2	46574022	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2522963	46574022	196625351	52	36712										
NRXN1	9378	genome.wustl.edu	37	chr2	50149205	50149205	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttactgatgtagtttcgactCtcgtccacatggtatgagcc	9	10	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:50149205C>G	ENST00000406316.2	-	22	5787	c.4311G>C	c.(4309-4311)gaG>gaC	p.E1437D	NRXN1_ENST00000401710.1_Missense_Mutation_p.E455D|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1467D|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1437D|NRXN1_ENST00000404971.1_Missense_Mutation_p.E1507D|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1459D|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1459D|NRXN1_ENST00000342183.5_Missense_Mutation_p.E402D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1437					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTTTCGACTCTCGTCCACAT	0.478																																																	0													229	184	199					2																	50149205		2203	4300	6503	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4311G>C	2.37:g.50149205C>G	ENSP00000384311:p.Glu1437Asp		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E1459D	ENST00000406316.2	37	c.4377	CCDS54360.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.58|17.58|17.58	3.425566|3.425566|3.425566	0.62733|0.62733|0.62733	.|.|.	.|.|.	ENSG00000179915|ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000378262|ENST00000412315	T;T;T;T;T;T;T;T|T|.	0.78595|0.70869|.	0.23;1.6;-0.52;-0.41;-1.19;-1.07;-0.79;-0.55|-0.52|.	5.44|5.44|5.44	4.56|4.56|4.56	0.56223|0.56223|0.56223	Neurexin/syndecan/glycophorin C (1);|.|.	0.000000|0.000000|.	0.51477|0.51477|.	U|U|.	0.000098|0.000098|.	T|T|T	0.73257|0.73257|0.73257	0.3564|0.3564|0.3564	M|M|M	0.74881|0.74881|0.74881	2.28|2.28|2.28	0.40074|0.40074|0.40074	D|D|D	0.976051|0.976051|0.976051	P;D;P;P;P;P|.|.	0.54964|.|.	0.927;0.969;0.939;0.739;0.882;0.65|.|.	D;P;P;B;P;P|.|.	0.67725|.|.	0.953;0.842;0.777;0.291;0.55;0.83|.|.	T|T|T	0.75465|0.75465|0.75465	-0.3308|-0.3308|-0.3308	10|8|5	0.87932|0.35671|.	D|T|.	0|0.21|.	.|.|.	14.201|14.201|14.201	0.65705|0.65705|0.65705	0.0:0.9285:0.0:0.0715|0.0:0.9285:0.0:0.0715|0.0:0.9285:0.0:0.0715	.|.|.	102;1507;402;1437;1456;99|.|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.|.	.;.;NRX1B_HUMAN;.;.;.|.|.	D|Q|T	402;356;455;1507;1437;1459;1467;1508;1459;1437|104|170	ENSP00000341184:E402D;ENSP00000385580:E455D;ENSP00000385142:E1507D;ENSP00000384311:E1437D;ENSP00000434015:E1459D;ENSP00000385017:E1467D;ENSP00000385434:E1459D;ENSP00000385681:E1437D|ENSP00000367510:E104Q|.	ENSP00000341184:E402D|ENSP00000367510:E104Q|.	E|E|R	-|-|-	3|1|2	2|0|0	NRXN1|NRXN1|NRXN1	50002709|50002709|50002709	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	3.944000|3.944000|3.944000	0.56629|0.56629|0.56629	1.518000|1.518000|1.518000	0.48934|0.48934|0.48934	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GAG|AGA	NRXN1	-	smart_Neurexin-like		0.478	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50149205	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	missense	SNP	1.000	G	G	50149205	C	G	50149205	3	3	193	1	0	0	0	0	1	0	0	0	10689	912	32	1	126	1	NRXN1	2	50149205	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3575183	50149205	193050168	53	36713										
PUS10	150962	genome.wustl.edu	37	chr2	61175312	61175312	+	Missense_Mutation	SNP	C	C	G	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaaggtgttttctggtcgatTtttaagtcctaggggagaat	12	4	1	1	rs12479056	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:61175312C>G	ENST00000316752.6	-	16	1578	c.1317G>C	c.(1315-1317)aaG>aaC	p.K439N	PUS10_ENST00000407787.1_Missense_Mutation_p.K439N	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	439					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCTGGTCGATTTTTAAGTCCT	0.537																																																	0													135	135	135					2																	61175312		2203	4300	6503	SO:0001583	missense	150962			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1317G>C	2.37:g.61175312C>G	ENSP00000326003:p.Lys439Asn		Q5JPJ5|Q96MI8	Missense_Mutation	SNP	superfamily_PsdUridine_synth_cat_dom	p.K439N	ENST00000316752.6	37	c.1317	CCDS1865.1	2																																																																																			PUS10	-	superfamily_PsdUridine_synth_cat_dom		0.537	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	HGNC	protein_coding	OTTHUMT00000251582.2	C	NM_144709		61175312	-1	no_errors	ENST00000316752	ensembl	human	known	70_37	missense	SNP	0.996	G	G	61175312	C	G	61175312	3	3	193	1	0	0	0	0	1	0	0	0	12861	1838	64	5	284	5	PUS10	2	61175312	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	11026107	61175312	182024061	54	36714										
SPR	6697	genome.wustl.edu	37	chr2	73118555	73118555	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgaaaagggctgcaggagctGaaggcaaaggggaagctggt	18	6	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:73118555G>A	ENST00000234454.5	+	3	748	c.675G>A	c.(673-675)ctG>ctA	p.L225L	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	225					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						TGCAGGAGCTGAAGGCAAAGG	0.562																																																	0													81	76	78					2																	73118555		2203	4300	6503	SO:0001819	synonymous_variant	6697				CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	11257	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 38C, member 1"	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.675G>A	2.37:g.73118555G>A			A8K741|D6W5H2|Q53GI9|Q9UBB1	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red	p.L225	ENST00000234454.5	37	c.675	CCDS1920.1	2																																																																																			SPR	-	tigrfam_Sepiapterin_red		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPR	HGNC	protein_coding	OTTHUMT00000251993.2	G			73118555	1	no_errors	ENST00000234454	ensembl	human	known	70_37	silent	SNP	0.524	A	A	73118555	G	A	73118555	2	1	193	1	0	0	0	0	0	0	0	1	15121	1277	45	1		1	SPR	2	73118555	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	11943243	73118555	170080818	55	36715										
SLC4A5	57835	genome.wustl.edu	37	chr2	74479361	74479361	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	catggctggcatctctccatCatccccgctgcttgttccgc	8	17	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:74479361C>T	ENST00000377634.4	-	16	1822	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	SLC4A5_ENST00000394019.2_Missense_Mutation_p.D475N|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D475N|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D411N|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.D475N|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D475N|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D475N|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D411N					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATCTCTCCATCATCCCCGCTG	0.647																																																	0													94	79	84					2																	74479361		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1423G>A	2.37:g.74479361C>T	ENSP00000366861:p.Asp475Asn			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.D475N	ENST00000377634.4	37	c.1423	CCDS1936.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.941876	0.97128	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	D;D;D;D;D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76	5.29	5.29	0.74685	.	0.392907	0.23196	N	0.050844	D	0.93546	0.7940	L	0.27053	0.805	0.49051	D	0.999748	B;P;P;P;B	0.52577	0.112;0.954;0.934;0.875;0.374	B;P;P;P;B	0.48840	0.079;0.51;0.592;0.501;0.359	D	0.94208	0.7456	10	0.59425	D	0.04	.	16.4869	0.84187	0.0:1.0:0.0:0.0	.	475;475;411;475;475	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	N	475;475;475;411;475;411;475;475;475;475	ENSP00000377587:D475N;ENSP00000251768:D475N;ENSP00000352461:D411N;ENSP00000395804:D475N;ENSP00000351513:D411N;ENSP00000350475:D475N;ENSP00000366859:D475N;ENSP00000366861:D475N;ENSP00000405678:D475N	ENSP00000251768:D475N	D	-	1	0	SLC4A5	74332869	1.000000	0.71417	0.063000	0.19743	0.775000	0.43874	6.570000	0.73996	2.480000	0.83734	0.442000	0.29010	GAT	SLC4A5	-	tigrfam_HCO3_transpt_euk		0.647	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	C			74479361	-1	no_errors	ENST00000357822	ensembl	human	known	70_37	missense	SNP	0.989	T	T	74479361	C	T	74479361	3	4	193	1	0	0	0	0	1	0	0	0	14687	826	29	1	2054	1	SLC4A5	2	74479361	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1360806	74479361	168720012	56	36716										
DNAH6	1768	genome.wustl.edu	37	chr2	85035553	85035553	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tttcagaaaaactggaaatgGagggtgcttctgagagcctt	12	6	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:85035553G>C	ENST00000237449.6	+	71	11634	c.11626G>C	c.(11626-11628)Gag>Cag	p.E3876Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.E3876Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3876					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACTGGAAATGGAGGGTGCTTC	0.443																																																	0													160	140	146					2																	85035553		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.11626G>C	2.37:g.85035553G>C	ENSP00000237449:p.Glu3876Gln		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3876Q	ENST00000237449.6	37	c.11626	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640004	0.87760	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.09445	2.98;2.98	5.65	5.65	0.86999	Dynein heavy chain (1);	0.291480	0.26224	N	0.025616	T	0.16938	0.0407	L	0.55990	1.75	0.80722	D	1	P	0.36837	0.571	B	0.39935	0.314	T	0.00478	-1.1715	10	0.66056	D	0.02	.	17.5756	0.87947	0.0:0.0:1.0:0.0	.	3876	Q9C0G6	DYH6_HUMAN	Q	3876	ENSP00000374045:E3876Q;ENSP00000237449:E3876Q	ENSP00000237449:E3876Q	E	+	1	0	DNAH6	84889064	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.570000	0.82390	2.819000	0.97034	0.643000	0.83706	GAG	DNAH6	-	pfam_Dynein_heavy_dom		0.443	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		85035553	1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	C	C	85035553	G	C	85035553	3	2	193	1	0	0	0	0	1	0	0	0	4615	1175	41	1	11908	1	DNAH6	2	85035553	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	10556192	85035553	158163820	57	36717										
DDX18	8886	genome.wustl.edu	37	chr2	118586868	118586868	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtttctttctatttcagcttGagaaattgattgaaaagaat	7	4	3	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:118586868G>C	ENST00000263239.2	+	13	1824	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	566	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTTCAGCTTGAGAAATTGAT	0.343																																																	0													53	57	56					2																	118586868		2197	4298	6495	SO:0001583	missense	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1696G>C	2.37:g.118586868G>C	ENSP00000263239:p.Glu566Gln		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E566Q	ENST00000263239.2	37	c.1696	CCDS2120.1	2	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745664	0.69418	.	.	ENSG00000088205	ENST00000263239;ENST00000539346	T	0.02323	4.34	4.67	4.67	0.58626	Helicase, C-terminal (1);	0.703241	0.14753	N	0.300427	T	0.07324	0.0185	M	0.74258	2.255	0.80722	D	1	B	0.21071	0.051	B	0.29077	0.098	T	0.18650	-1.0330	10	0.34782	T	0.22	.	16.2848	0.82714	0.0:0.0:1.0:0.0	.	566	Q9NVP1	DDX18_HUMAN	Q	566;305	ENSP00000263239:E566Q	ENSP00000263239:E566Q	E	+	1	0	DDX18	118303338	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.946000	0.92992	2.595000	0.87683	0.650000	0.86243	GAG	DDX18	-	pfscan_Helicase_C		0.343	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3	G	NM_006773		118586868	1	no_errors	ENST00000263239	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118586868	G	C	118586868	3	2	193	1	0	0	0	0	1	0	0	0	4350	1291	45	1	1746	1	DDX18	2	118586868	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	33551315	118586868	124612505	58	36718										
MARCO	8685	genome.wustl.edu	37	chr2	119749366	119749366	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cttccaggccctgcaggtgtGaagggagaacaggggagccc	16	11	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:119749366G>A	ENST00000327097.4	+	14	1257	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	MARCO_ENST00000541757.1_Silent_p.V296V	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	374	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTGCAGGTGTGAAGGGAGAAC	0.577																																					GBM(8;18 374 7467 11269 32796)												0													30	29	29					2																	119749366		2198	4298	6496	SO:0001819	synonymous_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1122G>A	2.37:g.119749366G>A			B4DW79|Q9Y5S3	Silent	SNP	pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.V374	ENST00000327097.4	37	c.1122	CCDS2124.1	2																																																																																			MARCO	-	pfam_Collagen		0.577	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	G	NM_006770		119749366	1	no_errors	ENST00000327097	ensembl	human	known	70_37	silent	SNP	0.186	A	A	119749366	G	A	119749366	2	1	193	1	0	0	0	0	0	0	0	1	9334	1277	45	1		1	MARCO	2	119749366	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1162498	119749366	123450007	59	36719										
CLASP1	23332	genome.wustl.edu	37	chr2	122182816	122182816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcacaggtgggcctcgtgagGagcccccagtaagtccacca	12	14	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:122182816G>A	ENST00000263710.4	-	22	2500	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	CLASP1_ENST00000545861.1_Missense_Mutation_p.S480F|CLASP1_ENST00000455322.2_Missense_Mutation_p.S704F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S712F|CLASP1_ENST00000409078.3_Missense_Mutation_p.S704F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S711F|CLASP1_ENST00000541859.1_Missense_Mutation_p.S473F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	704	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCCTCGTGAGGAGCCCCCAGT	0.493																																																	0													89	87	88					2																	122182816		1838	4086	5924	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2111C>T	2.37:g.122182816G>A	ENSP00000263710:p.Ser704Phe		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S704F	ENST00000263710.4	37	c.2111		2	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469760	0.43839	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000463621	T;T;T;T;T;T	0.48522	2.15;2.12;2.11;2.14;0.81;2.13	5.83	5.83	0.93111	Armadillo-type fold (1);	0.349077	0.33980	N	0.004371	T	0.42743	0.1216	L	0.34521	1.04	0.40195	D	0.977447	B;P;B;P	0.36315	0.412;0.547;0.412;0.523	B;B;B;B	0.37047	0.084;0.24;0.084;0.165	T	0.22417	-1.0217	10	0.31617	T	0.26	-2.5211	20.1047	0.97888	0.0:0.0:1.0:0.0	.	704;712;711;704	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	F	704;704;712;711;473;704;480;45	ENSP00000263710:S704F;ENSP00000389372:S704F;ENSP00000380717:S712F;ENSP00000441625:S711F;ENSP00000441770:S473F;ENSP00000386442:S704F	ENSP00000263710:S704F	S	-	2	0	CLASP1	121899286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.844000	0.62846	2.762000	0.94881	0.655000	0.94253	TCC	CLASP1	-	superfamily_ARM-type_fold		0.493	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		G	NM_015282		122182816	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	0.759	A	A	122182816	G	A	122182816	3	1	193	1	0	0	0	0	1	0	0	0	3459	1174	41	1	2605	1	CLASP1	2	122182816	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2433450	122182816	121016557	60	36720										
YSK4	80122	genome.wustl.edu	37	chr2	135738524	135738524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggaagccagtggaggcttccCtgtagccatctcaaacacag	11	12	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:135738524C>T	ENST00000375845.3	-	9	3817	c.3787G>A	c.(3787-3789)Ggg>Agg	p.G1263R	MAP3K19_ENST00000315513.3_Missense_Mutation_p.G124R|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G445R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.G397R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1150R|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G395R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGAGGCTTCCCTGTAGCCATC	0.507																																																	0													80	73	75					2																	135738524		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3787G>A	2.37:g.135738524C>T	ENSP00000365005:p.Gly1263Arg		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G1263R	ENST00000375845.3	37	c.3787	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719730	0.89205	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000394	T	0.64494	0.2603	M	0.67517	2.055	0.80722	D	1	D;D;D;D;D	0.76494	0.966;0.996;0.958;0.958;0.999	P;D;P;P;D	0.72338	0.723;0.961;0.601;0.601;0.977	T	0.65434	-0.6169	10	0.62326	D	0.03	.	18.6071	0.91271	0.0:1.0:0.0:0.0	.	395;1150;397;445;1263	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	R	1263;1150;445;397;395;653;124	ENSP00000365005:G1263R;ENSP00000351140:G1150R;ENSP00000365004:G445R;ENSP00000376650:G397R;ENSP00000376649:G395R;ENSP00000392827:G653R;ENSP00000321160:G124R	ENSP00000321160:G124R	G	-	1	0	YSK4	135454994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.616000	0.83018	2.629000	0.89072	0.591000	0.81541	GGG	MAP3K19	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.507	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	C	NM_025052		135738524	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	1.000	T	T	135738524	C	T	135738524	3	4	193	1	0	0	0	0	1	0	0	0	17526	681	24	4	207	4	YSK4	2	135738524	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	13555708	135738524	107460849	61	36721										
RIF1	55183	genome.wustl.edu	37	chr2	152285401	152285401	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaagatagcttttattgcttGgaagagtttaatagataatt	8	2	0	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:152285401G>A	ENST00000243326.5	+	8	1373	c.890G>A	c.(889-891)tGg>tAg	p.W297*	RIF1_ENST00000430328.2_Nonsense_Mutation_p.W297*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.W297*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.W297*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.W297*|RIF1_ENST00000433166.2_Nonsense_Mutation_p.W266*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTTATTGCTTGGAAGAGTTTA	0.308																																																	0													63	64	64					2																	152285401		2203	4300	6503	SO:0001587	stop_gained	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.890G>A	2.37:g.152285401G>A	ENSP00000243326:p.Trp297*		A0AVS0|Q9NS16	Nonsense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.W297*	ENST00000243326.5	37	c.890	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.563922	0.96527	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1104	20.0512	0.97629	0.0:0.0:1.0:0.0	.	.	.	.	X	297;297;297;266;297;297	.	ENSP00000243326:W297X	W	+	2	0	RIF1	151993647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.447000	0.97595	2.847000	0.97988	0.591000	0.81541	TGG	RIF1	-	pfam_Rif1_N,superfamily_ARM-type_fold		0.308	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152285401	1	no_errors	ENST00000243326	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	152285401	G	A	152285401	4	1	193	1	0	0	0	0	0	1	0	0	13389	1357	47	4	920	4	RIF1	2	152285401	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	16546877	152285401	90913972	62	36722										
NEB	4703	genome.wustl.edu	37	chr2	152547324	152547324	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaatttggtcttatctggatGaactttgtaggtatgctaga	11	4	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:152547324G>A	ENST00000172853.10	-	24	2374	c.2227C>T	c.(2227-2229)Cat>Tat	p.H743Y	NEB_ENST00000603639.1_Missense_Mutation_p.H743Y|NEB_ENST00000604864.1_Missense_Mutation_p.H743Y|NEB_ENST00000397345.3_Missense_Mutation_p.H743Y|NEB_ENST00000409198.1_Missense_Mutation_p.H743Y|NEB_ENST00000427231.2_Missense_Mutation_p.H743Y			P20929	NEBU_HUMAN	nebulin	743					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTATCTGGATGAACTTTGTAG	0.368																																																	0													111	106	108					2																	152547324		1912	4121	6033	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2227C>T	2.37:g.152547324G>A	ENSP00000172853:p.His743Tyr		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.H743Y	ENST00000172853.10	37	c.2227		2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974292	0.74246	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.06608	3.28;3.31;3.3;3.28	5.04	5.04	0.67666	.	0.073454	0.53938	D	0.000056	T	0.26412	0.0645	M	0.79475	2.455	0.80722	D	1	D;D	0.63046	0.992;0.981	D;D	0.70935	0.968;0.971	T	0.01162	-1.1432	10	0.59425	D	0.04	.	17.1605	0.86802	0.0:0.0:1.0:0.0	.	376;743	Q86TG3;P20929	.;NEBU_HUMAN	Y	743	ENSP00000386259:H743Y;ENSP00000380505:H743Y;ENSP00000416578:H743Y;ENSP00000172853:H743Y	ENSP00000172853:H743Y	H	-	1	0	NEB	152255570	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.523000	0.90576	2.329000	0.79093	0.313000	0.20887	CAT	NEB	-	NULL		0.368	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152547324	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	A	A	152547324	G	A	152547324	3	1	193	1	0	0	0	0	1	0	0	0	10326	1290	45	1	24095	1	NEB	2	152547324	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	261923	152547324	90652049	63	36723										
ZAK	51776	genome.wustl.edu	37	chr2	174086208	174086208	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgtcagaaggtgacgatgatGatgatgatgacggtgaggag	17	3	1	8			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:174086208G>A	ENST00000375213.3	+	11	1065				MLTK_ENST00000539448.1_Missense_Mutation_p.D440N|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_Missense_Mutation_p.D440N|MLTK_ENST00000431503.2_Missense_Mutation_p.D339N|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.D440N(1)									tgacgatgatgatgatgatga	0.393																																																	1	Substitution - Missense(1)	cervix(1)											50	48	49					2																	174086208		2203	4300	6503	SO:0001627	intron_variant	51776																														ENST00000375213.3:c.987+4230G>A	2.37:g.174086208G>A			B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D440N	ENST00000375213.3	37	c.1318	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772281	0.49680	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;D	0.81579	-1.09;-1.09;-1.51	5.34	4.25	0.50352	.	.	.	.	.	T	0.65719	0.2718	N	0.14661	0.345	0.21445	N	0.999683	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56341	-0.7995	9	0.87932	D	0	.	8.143	0.31095	0.1891:0.0:0.8109:0.0	.	440;440	A8K710;D4Q8H0	.;.	N	440;440;339	ENSP00000439414:D440N;ENSP00000340257:D440N;ENSP00000399787:D339N	ENSP00000340257:D440N	D	+	1	0	AC013461.1	173794454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.826000	0.48104	2.526000	0.85167	0.650000	0.86243	GAT	MLTK	-	NULL		0.393	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	G			174086208	1	no_errors	ENST00000338983	ensembl	human	known	70_37	missense	SNP	1.000	A	A	174086208	G	A	174086208	1	1	193	0	1	0	0	0	0	0	0	0	17543	1290	45	1		1	ZAK	2	174086208	Intron	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	21538884	174086208	69113165	64	36724										
WIPF1	7456	genome.wustl.edu	37	chr2	175436510	175436510	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aacgggggcgtggacgaactGagggacagattccgctgtgg	18	8	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:175436510G>C	ENST00000392547.2	-	5	1122	c.1023C>G	c.(1021-1023)ctC>ctG	p.L341L	WIPF1_ENST00000272746.5_Silent_p.L341L|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.L341L|WIPF1_ENST00000392546.2_Silent_p.L341L|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409891.1_Silent_p.L341L|WIPF1_ENST00000409415.3_Silent_p.L341L|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	341	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGGACGAACTGAGGGACAGAT	0.677																																																	0													51	51	51					2																	175436510		2203	4300	6503	SO:0001819	synonymous_variant	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1023C>G	2.37:g.175436510G>C			B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	smart_WH2_dom,pfscan_WH2_dom	p.L341	ENST00000392547.2	37	c.1023	CCDS2260.1	2																																																																																			WIPF1	-	NULL		0.677	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	G	NM_003387		175436510	-1	no_errors	ENST00000272746	ensembl	human	known	70_37	silent	SNP	0.003	C	C	175436510	G	C	175436510	2	2	193	1	0	0	0	0	0	0	0	1	17398	1277	45	1		1	WIPF1	2	175436510	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1350302	175436510	67762863	65	36725										
TTN	7273	genome.wustl.edu	37	chr2	179432591	179432591	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttctggggttcctggtgggtCacagggatctctggctacat	14	9	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:179432591C>T	ENST00000591111.1	-	276	73569	c.73345G>A	c.(73345-73347)Gac>Aac	p.D24449N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D17150N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17025N|TTN_ENST00000589042.1_Missense_Mutation_p.D26090N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17217N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23522N			Q8WZ42	TITIN_HUMAN	titin	24449					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGTGGGTCACAGGGATCT	0.403																																																	0													195	186	189					2																	179432591		1879	4111	5990	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73345G>A	2.37:g.179432591C>T	ENSP00000465570:p.Asp24449Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D23522N	ENST00000591111.1	37	c.70564		2	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275918	0.40294	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.58	5.58	0.84498	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70360	0.3215	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.974;0.974;0.974;0.986	T	0.74937	-0.3494	9	0.87932	D	0	.	19.5644	0.95388	0.0:1.0:0.0:0.0	.	17025;17150;17217;24449	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	23522;17025;17217;17150;17023	ENSP00000343764:D23522N;ENSP00000434586:D17025N;ENSP00000340554:D17217N;ENSP00000352154:D17150N	ENSP00000340554:D17217N	D	-	1	0	TTN	179140837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.981000	0.70524	2.615000	0.88500	0.555000	0.69702	GAC	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179432591	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T	T	179432591	C	T	179432591	3	4	193	1	0	0	0	0	1	0	0	0	16766	826	29	1	29859	1	TTN	2	179432591	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3996081	179432591	63766782	66	36726										
TFPI	7035	genome.wustl.edu	37	chr2	188331689	188331689	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atttttaacaaaaatttcttCatatgctattttcactctct	1	8	4	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:188331689C>T	ENST00000233156.3	-	8	1183	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.E297K	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	297					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	AAAATTTCTTCATATGCTATT	0.249																																																	0													27	30	29					2																	188331689		2159	4232	6391	SO:0001583	missense	7035				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.889G>A	2.37:g.188331689C>T	ENSP00000233156:p.Glu297Lys		O95103|Q53TS4	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E297K	ENST00000233156.3	37	c.889	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898566	0.52227	.	.	ENSG00000003436	ENST00000392365;ENST00000233156	T;T	0.57273	0.41;0.41	4.77	4.77	0.60923	.	0.250304	0.32640	N	0.005836	T	0.59783	0.2219	M	0.63843	1.955	0.28613	N	0.908571	D	0.58268	0.982	P	0.52793	0.709	T	0.57412	-0.7816	10	0.33141	T	0.24	.	13.6721	0.62432	0.0:1.0:0.0:0.0	.	297	P10646	TFPI1_HUMAN	K	297	ENSP00000376172:E297K;ENSP00000233156:E297K	ENSP00000233156:E297K	E	-	1	0	TFPI	188039934	0.002000	0.14202	0.048000	0.18961	0.046000	0.14306	0.719000	0.25881	2.354000	0.79902	0.655000	0.94253	GAA	TFPI	-	pirsf_Prot_inhib_I2_TFPI		0.249	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1	C	NM_006287		188331689	-1	no_errors	ENST00000233156	ensembl	human	known	70_37	missense	SNP	0.628	T	T	188331689	C	T	188331689	3	4	193	1	0	0	0	0	1	0	0	0	15838	835	29	1	29	1	TFPI	2	188331689	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	8899098	188331689	54867684	67	36727										
PIKFYVE	200576	genome.wustl.edu	37	chr2	209136281	209136281	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gacgtccccaacactggactCtgctaatgatttgcctcgat	8	13	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:209136281C>T	ENST00000264380.4	+	2	196	c.38C>T	c.(37-39)tCt>tTt	p.S13F	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S13F|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S13F|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S13F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	13					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACACTGGACTCTGCTAATGAT	0.403																																																	0													271	259	263					2																	209136281		2203	4300	6503	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.38C>T	2.37:g.209136281C>T	ENSP00000264380:p.Ser13Phe		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.S13F	ENST00000264380.4	37	c.38	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839934	0.51057	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.66460	1.52;-0.21;-0.17;1.67	5.23	5.23	0.72850	.	0.414873	0.24803	N	0.035466	T	0.54287	0.1849	N	0.14661	0.345	0.22199	N	0.999298	B;B;B;B;B	0.31009	0.303;0.0;0.0;0.0;0.001	B;B;B;B;B	0.33890	0.172;0.001;0.0;0.0;0.001	T	0.56511	-0.7967	10	0.59425	D	0.04	-6.0023	16.9744	0.86309	0.0:1.0:0.0:0.0	.	13;13;13;13;13	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	F	13	ENSP00000264380:S13F;ENSP00000384356:S13F;ENSP00000414477:S13F;ENSP00000405736:S13F	ENSP00000264380:S13F	S	+	2	0	PIKFYVE	208844526	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.486000	0.45259	2.452000	0.82932	0.655000	0.94253	TCT	PIKFYVE	-	NULL		0.403	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	C	NM_015040		209136281	1	no_errors	ENST00000264380	ensembl	human	known	70_37	missense	SNP	1.000	T	T	209136281	C	T	209136281	3	4	193	1	0	0	0	0	1	0	0	0	11948	913	32	1	40	1	PIKFYVE	2	209136281	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	20804592	209136281	34063092	68	36728										
CPS1	1373	genome.wustl.edu	37	chr2	211467045	211467045	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agagagactttgatggacctCagcacaaaggtatgtatttt	10	6	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:211467045C>T	ENST00000233072.5	+	16	2023	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	CPS1_ENST00000451903.2_Silent_p.L158L|CPS1_ENST00000430249.2_Silent_p.L615L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	609	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGATGGACCTCAGCACAAAGG	0.433																																																	0													135	125	128					2																	211467045		2203	4300	6503	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1827C>T	2.37:g.211467045C>T			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.L615	ENST00000233072.5	37	c.1845	CCDS2393.1	2																																																																																			CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu		0.433	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	C			211467045	1	no_errors	ENST00000430249	ensembl	human	known	70_37	silent	SNP	0.646	T	T	211467045	C	T	211467045	2	4	193	1	0	0	0	0	0	0	0	1	3828	813	29	1		1	CPS1	2	211467045	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2330764	211467045	31732328	69	36729										
SLC4A3	6508	genome.wustl.edu	37	chr2	220494063	220494063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctggagtggatgaggaagagGaggaagaggaggaagaggaa	21	1	0	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:220494063G>A	ENST00000358055.3	+	4	927	c.415G>A	c.(415-417)Gag>Aag	p.E139K	SLC4A3_ENST00000497589.1_3'UTR|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E139K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E139K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E139K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E139K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	139	Poly-Glu.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tgaggaagaggaggaagagga	0.602																																																	0													23	28	26					2																	220494063		2202	4299	6501	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.415G>A	2.37:g.220494063G>A	ENSP00000350756:p.Glu139Lys		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.E139K	ENST00000358055.3	37	c.415	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865491	0.71949	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.89	4.89	0.63831	.	0.221818	0.37669	N	0.001996	T	0.30103	0.0754	L	0.49778	1.585	0.51233	D	0.999912	P;P	0.43094	0.455;0.799	B;B	0.42214	0.142;0.38	T	0.03795	-1.1003	10	0.11485	T	0.65	.	16.0117	0.80406	0.0:0.0:1.0:0.0	.	139;139	P48751;P48751-3	B3A3_HUMAN;.	K	139	ENSP00000350756:E139K;ENSP00000362865:E139K;ENSP00000273063:E139K;ENSP00000362867:E139K;ENSP00000314006:E139K	ENSP00000273063:E139K	E	+	1	0	SLC4A3	220202307	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	8.032000	0.88838	2.536000	0.85505	0.462000	0.41574	GAG	SLC4A3	-	NULL		0.602	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220494063	1	no_errors	ENST00000273063	ensembl	human	known	70_37	missense	SNP	1.000	A	A	220494063	G	A	220494063	3	1	193	1	0	0	0	0	1	0	0	0	14685	1175	41	1	425	1	SLC4A3	2	220494063	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	9027018	220494063	22705310	70	36730										
TRIP12	9320	genome.wustl.edu	37	chr2	230667174	230667174	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgttttacttgatgcattacAcctttataataacagagatg	6	6	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:230667174A>G	ENST00000283943.5	-	20	2953	c.2775T>C	c.(2773-2775)ggT>ggC	p.G925G	TRIP12_ENST00000389045.3_Splice_Site_p.G655G|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site_p.G973G	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	925					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GATGCATTACACCTTTATAAT	0.398																																																	0													99	94	96					2																	230667174		2203	4300	6503	SO:0001630	splice_region_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2774-1T>C	2.37:g.230667174A>G			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.G925	ENST00000283943.5	37	c.2775	CCDS33391.1	2																																																																																			TRIP12	-	superfamily_ARM-type_fold		0.398	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	A	NM_004238	Silent	230667174	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	silent	SNP	1.000	G	G	230667174	A	G	230667174	5	3	193	1	0	0	0	0	0	0	1	0	16587	173	6	5	3291	5	TRIP12	2	230667174	Splice_Site	SNP	A	TCGA-UC-A7PF-01A-11D-A351-09	10173111	230667174	12532199	71	36731										
SAG	6295	genome.wustl.edu	37	chr2	234229394	234229394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgtatcctcctgtgggggcCgcgagcacccccacaaaact	11	15	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:234229394C>T	ENST00000409110.1	+	5	530	c.300C>T	c.(298-300)gcC>gcT	p.A100A	SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	100					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CTGTGGGGGCCGCGAGCACCC	0.612																																																	0													30	33	32					2																	234229394		1950	4145	6095	SO:0001819	synonymous_variant	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.300C>T	2.37:g.234229394C>T			A0FDN6|Q53SV3|Q99858	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.A100	ENST00000409110.1	37	c.300	CCDS46545.1	2																																																																																			SAG	-	pfam_Arrestin-like_N,superfamily_Ig_E-set		0.612	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1	C	NM_000541		234229394	1	no_errors	ENST00000409110	ensembl	human	known	70_37	silent	SNP	0.000	T	T	234229394	C	T	234229394	2	4	193	1	0	0	0	0	0	0	0	1	13838	639	23	2		2	SAG	2	234229394	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3562220	234229394	8969979	72	36732										
COL6A3	1293	genome.wustl.edu	37	chr2	238296430	238296430	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gagaacacgctagcctgcttCagtgctaccaccccgtagcg	10	15	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:238296430C>T	ENST00000295550.4	-	4	1559	c.1107G>A	c.(1105-1107)ctG>ctA	p.L369L	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Silent_p.L163L|COL6A3_ENST00000353578.4_Silent_p.L163L|COL6A3_ENST00000346358.4_Silent_p.L369L|COL6A3_ENST00000392004.3_Silent_p.L163L|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	369	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAGCCTGCTTCAGTGCTACCA	0.612																																																	0													52	51	51					2																	238296430		2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1107G>A	2.37:g.238296430C>T			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L369	ENST00000295550.4	37	c.1107	CCDS33412.1	2																																																																																			COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238296430	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	silent	SNP	1.000	T	T	238296430	C	T	238296430	2	4	193	1	0	0	0	0	0	0	0	1	3706	813	29	1		1	COL6A3	2	238296430	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4067036	238296430	4902943	73	36733										
MAP4	4134	genome.wustl.edu	37	chr3	47963325	47963325	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gctgtcgcactggagggaaaGaccaaatctgccaggtcatc	12	11	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:47963325G>T	ENST00000360240.6	-	5	977	c.459C>A	c.(457-459)gtC>gtA	p.V153V	MAP4_ENST00000395734.3_Silent_p.V153V|MAP4_ENST00000383737.4_Silent_p.V153V|MAP4_ENST00000426837.2_Silent_p.V170V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	153					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGAGGGAAAGACCAAATCTG	0.388																																																	0													130	120	124					3																	47963325		2203	4300	6503	SO:0001819	synonymous_variant	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.459C>A	3.37:g.47963325G>T			Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.V153	ENST00000360240.6	37	c.459	CCDS33750.1	3																																																																																			MAP4	-	NULL		0.388	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	G	NM_002375		47963325	-1	no_errors	ENST00000360240	ensembl	human	known	70_37	silent	SNP	0.956	T	T	47963325	G	T	47963325	2	4	193	1	0	0	0	0	0	0	0	1	9281	929	33	3		3	MAP4	3	47963325	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		47963325	150059105	74	36734										
CELSR3	1951	genome.wustl.edu	37	chr3	48678853	48678853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agctgcatccttgctggtgtCcagccccaggcgcctttcag	11	15	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:48678853C>T	ENST00000164024.4	-	33	9209	c.8929G>A	c.(8929-8931)Gac>Aac	p.D2977N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D2982N|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2977					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGCTGGTGTCCAGCCCCAGG	0.647																																																	0													54	64	60					3																	48678853		2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8929G>A	3.37:g.48678853C>T	ENSP00000164024:p.Asp2977Asn		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D2982N	ENST00000164024.4	37	c.8944	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.701609	0.96812	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73789	-0.78;-0.78	5.22	5.22	0.72569	.	.	.	.	.	T	0.80722	0.4677	L	0.32530	0.975	0.80722	D	1	D;P;D	0.76494	0.966;0.943;0.999	P;P;D	0.69654	0.669;0.469;0.965	T	0.83088	-0.0134	9	0.87932	D	0	.	18.7791	0.91924	0.0:1.0:0.0:0.0	.	2982;2977;3075	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2977;2982	ENSP00000164024:D2977N;ENSP00000445694:D2982N	ENSP00000164024:D2977N	D	-	1	0	CELSR3	48653857	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.163000	0.77524	2.436000	0.82500	0.514000	0.50259	GAC	CELSR3	-	NULL		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48678853	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	missense	SNP	1.000	T	T	48678853	C	T	48678853	3	4	193	1	0	0	0	0	1	0	0	0	3228	855	30	1	1021	1	CELSR3	3	48678853	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	715528	48678853	149343577	75	36735										
IP6K2	51447	genome.wustl.edu	37	chr3	48731583	48731583	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggagccggggtggggtattCaggccacacttccctgtggc	16	11	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:48731583C>G	ENST00000328631.5	-	2	426				IP6K2_ENST00000446860.1_3'UTR|IP6K2_ENST00000432678.2_3'UTR|IP6K2_ENST00000449610.1_3'UTR|IP6K2_ENST00000413298.1_Nonstop_Mutation_p.*98S|IP6K2_ENST00000436134.1_5'Flank|IP6K2_ENST00000450045.1_Nonstop_Mutation_p.*152S|IP6K2_ENST00000431721.2_3'UTR|IP6K2_ENST00000340879.4_Nonstop_Mutation_p.*98S	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GTGGGGTATTCAGGCCACACT	0.592																																																	0													22	25	24					3																	48731583		1759	3255	5014	SO:0001627	intron_variant	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.202+939G>C	3.37:g.48731583C>G			A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Nonstop_Mutation	SNP	NULL	p.*98S	ENST00000328631.5	37	c.293	CCDS2777.1	3	.	.	.	.	.	.	.	.	.	.	C	9.860	1.196012	0.22037	.	.	ENSG00000068745	ENST00000340879;ENST00000413298;ENST00000450045	.	.	.	5.49	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8855	0.46964	0.0:0.7981:0.1311:0.0708	.	.	.	.	S	98;98;152	.	.	X	-	2	2	IP6K2	48706587	1.000000	0.71417	0.548000	0.28192	0.448000	0.32197	3.508000	0.53378	0.651000	0.30788	0.467000	0.42956	TGA	IP6K2	-	NULL		0.592	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2	C	NM_016291		48731583	-1	no_errors	ENST00000340879	ensembl	human	known	70_37	nonstop	SNP	0.972	G	G	48731583	C	G	48731583	1	3	193	0	1	0	0	0	0	0	0	0	7809	837	29	1		1	IP6K2	3	48731583	Intron	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	52730	48731583	149290847	76	36736										
BSN	8927	genome.wustl.edu	37	chr3	49691094	49691094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cccccagctcagcctccaagGagataggcatgcccttttcc	8	17	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:49691094G>A	ENST00000296452.4	+	5	4219	c.4105G>A	c.(4105-4107)Gag>Aag	p.E1369K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1369					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCTCCAAGGAGATAGGCAT	0.597																																																	0													63	61	61					3																	49691094		2203	4298	6501	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4105G>A	3.37:g.49691094G>A	ENSP00000296452:p.Glu1369Lys		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E1369K	ENST00000296452.4	37	c.4105	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213134	0.22289	.	.	ENSG00000164061	ENST00000296452	T	0.17370	2.28	5.25	4.36	0.52297	.	0.304232	0.28225	N	0.016122	T	0.09247	0.0228	N	0.22421	0.69	0.29842	N	0.829134	B	0.27068	0.167	B	0.19148	0.024	T	0.20140	-1.0284	10	0.17832	T	0.49	.	6.8499	0.24008	0.144:0.2822:0.5738:0.0	.	1369	Q9UPA5	BSN_HUMAN	K	1369	ENSP00000296452:E1369K	ENSP00000296452:E1369K	E	+	1	0	BSN	49666098	1.000000	0.71417	0.995000	0.50966	0.071000	0.16799	2.406000	0.44557	1.198000	0.43158	0.462000	0.41574	GAG	BSN	-	NULL		0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49691094	1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.731	A	A	49691094	G	A	49691094	3	1	193	1	0	0	0	0	1	0	0	0	1533	1175	41	1	4123	1	BSN	3	49691094	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	959511	49691094	148331336	77	36737										
DHFRL1	200895	genome.wustl.edu	37	chr3	93780203	93780203	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	caggtcttcctacccataatCaccagattctgtttaccctc	4	15	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:93780203C>T	ENST00000394221.2	-	2	602	c.153G>A	c.(151-153)gtG>gtA	p.V51V	NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Silent_p.V51V	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	51	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TACCCATAATCACCAGATTCT	0.463																																																	0													150	155	153					3																	93780203		2203	4300	6503	SO:0001819	synonymous_variant	200895			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"dihydrofolate reductase pseudogene 4"	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.153G>A	3.37:g.93780203C>T			D3DN30|Q6P4I9	Silent	SNP	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR	p.V51	ENST00000394221.2	37	c.153	CCDS2926.1	3																																																																																			DHFRL1	-	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR		0.463	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHFRL1	HGNC	protein_coding	OTTHUMT00000352910.1	C	NM_176815		93780203	-1	no_errors	ENST00000314636	ensembl	human	known	70_37	silent	SNP	1.000	T	T	93780203	C	T	93780203	2	4	193	1	0	0	0	0	0	0	0	1	4492	813	29	1		1	DHFRL1	3	93780203	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	44089109	93780203	104242227	78	36738										
MYH15	22989	genome.wustl.edu	37	chr3	108156543	108156543	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctcctgctcaagggcaccctCaagctgacaaaaggaaacat	8	13	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:108156543C>T	ENST00000273353.3	-	26	3195	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1047						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						AGGGCACCCTCAAGCTGACAA	0.393																																																	0													137	132	134					3																	108156543		1871	4113	5984	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3139G>A	3.37:g.108156543C>T	ENSP00000273353:p.Glu1047Lys			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1047K	ENST00000273353.3	37	c.3139	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025404	0.93518	.	.	ENSG00000144821	ENST00000273353	D	0.99245	-5.62	5.34	4.45	0.53987	.	.	.	.	.	D	0.99471	0.9812	M	0.91354	3.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.98158	1.0445	9	0.87932	D	0	.	14.9106	0.70755	0.0:0.9275:0.0:0.0725	.	1047	Q9Y2K3	MYH15_HUMAN	K	1047	ENSP00000273353:E1047K	ENSP00000273353:E1047K	E	-	1	0	MYH15	109639233	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.917000	0.56424	2.664000	0.90586	0.655000	0.94253	GAG	MYH15	-	NULL		0.393	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108156543	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	T	T	108156543	C	T	108156543	3	4	193	1	0	0	0	0	1	0	0	0	10057	835	29	1	2769	1	MYH15	3	108156543	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	14376340	108156543	89865887	79	36739										
DZIP3	9666	genome.wustl.edu	37	chr3	108361302	108361302	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cagttatagaaagttgatatCtctgaaaataactgatactg	7	5	1	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:108361302C>G	ENST00000361582.3	+	13	1312	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	DZIP3_ENST00000463306.1_Missense_Mutation_p.S361C	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	361					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGTTGATATCTCTGAAAATA	0.264																																																	0													21	21	21					3																	108361302		2112	4124	6236	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1082C>G	3.37:g.108361302C>G	ENSP00000355028:p.Ser361Cys		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S361C	ENST00000361582.3	37	c.1082	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987359	0.53934	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.52057	0.68;0.68;0.68	4.93	4.04	0.47022	.	0.457796	0.19181	N	0.120683	T	0.46502	0.1396	N	0.14661	0.345	0.32846	D	0.505961	D;D	0.76494	0.969;0.999	P;P	0.61800	0.694;0.894	T	0.59721	-0.7401	10	0.72032	D	0.01	-4.4942	10.7539	0.46225	0.1898:0.8102:0.0:0.0	.	361;361	C9J9M8;Q86Y13	.;DZIP3_HUMAN	C	361	ENSP00000355028:S361C;ENSP00000418115:S361C;ENSP00000419981:S361C	ENSP00000355028:S361C	S	+	2	0	DZIP3	109843992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.886000	0.39688	1.420000	0.47138	0.655000	0.94253	TCT	DZIP3	-	NULL		0.264	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	C	NM_014648		108361302	1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108361302	C	G	108361302	3	3	193	1	0	0	0	0	1	0	0	0	4875	913	32	1	1128	1	DZIP3	3	108361302	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	204759	108361302	89661128	80	36740										
PLXNA1	5361	genome.wustl.edu	37	chr3	126733396	126733396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agaacctgggcctgcgattcGaagacgtgcgtctgggcgtg	16	10	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:126733396G>A	ENST00000393409.2	+	12	2680	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E871K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	894	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGCGATTCGAAGACGTGCG	0.677																																																	0													73	75	74					3																	126733396		2202	4300	6502	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2680G>A	3.37:g.126733396G>A	ENSP00000377061:p.Glu894Lys			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E894K	ENST00000393409.2	37	c.2680	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	9.791	1.177911	0.21787	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.77620	-1.11;-1.11	3.78	3.78	0.43462	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.203911	0.32161	N	0.006499	T	0.65217	0.2670	N	0.21373	0.66	0.49687	D	0.999819	B	0.15719	0.014	B	0.18263	0.021	T	0.60291	-0.7292	10	0.20046	T	0.44	.	16.1821	0.81915	0.0:0.0:1.0:0.0	.	894	Q9UIW2	PLXA1_HUMAN	K	894;871	ENSP00000377061:E894K;ENSP00000251772:E871K	ENSP00000251772:E871K	E	+	1	0	PLXNA1	128216086	1.000000	0.71417	0.959000	0.39883	0.048000	0.14542	3.416000	0.52707	2.125000	0.65367	0.484000	0.47621	GAA	PLXNA1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.677	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	G	NM_032242		126733396	1	no_errors	ENST00000393409	ensembl	human	known	70_37	missense	SNP	0.983	A	A	126733396	G	A	126733396	3	1	193	1	0	0	0	0	1	0	0	0	12143	1059	37	1	2726	1	PLXNA1	3	126733396	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	18372094	126733396	71289034	81	36741										
SLCO2A1	6578	genome.wustl.edu	37	chr3	133663963	133663963	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgcttggaggttgcagagctCatgttgatgttgctgcagcc	14	8	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:133663963C>G	ENST00000310926.4	-	10	1710	c.1437G>C	c.(1435-1437)atG>atC	p.M479I	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.M403I	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	479	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TTGCAGAGCTCATGTTGATGT	0.582																																																	0													133	131	131					3																	133663963		2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1437G>C	3.37:g.133663963C>G	ENSP00000311291:p.Met479Ile		Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.M479I	ENST00000310926.4	37	c.1437	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149788	0.37923	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.04119	3.7;3.7	5.45	-1.37	0.09056	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	.	.	.	.	T	0.01124	0.0037	N	0.00399	-1.545	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.47086	-0.9144	9	0.19590	T	0.45	.	2.8633	0.05593	0.149:0.2594:0.4138:0.1778	.	298;403;479	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	I	479;403	ENSP00000311291:M479I;ENSP00000418893:M403I	ENSP00000311291:M479I	M	-	3	0	SLCO2A1	135146653	0.000000	0.05858	0.001000	0.08648	0.891000	0.51852	-0.920000	0.04013	-0.243000	0.09653	0.491000	0.48974	ATG	SLCO2A1	-	pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	C	NM_005630		133663963	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	missense	SNP	0.001	G	G	133663963	C	G	133663963	3	3	193	1	0	0	0	0	1	0	0	0	14756	826	29	1	514	1	SLCO2A1	3	133663963	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	6930567	133663963	64358467	82	36742										
PTX3	5806	genome.wustl.edu	37	chr3	157154774	157154774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tctggtctgcagtgttggccGagaactcggatgattatgat	13	7	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:157154774G>A	ENST00000295927.3	+	1	197	c.52G>A	c.(52-54)Gag>Aag	p.E18K	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	18					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGTGTTGGCCGAGAACTCGGA	0.473																																																	0													232	208	216					3																	157154774		2203	4300	6503	SO:0001583	missense	5806			X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"pentaxin-related gene, rapidly induced by IL-1 beta", "tumor necrosis factor, alpha-induced protein 5", "pentraxin-related gene, rapidly induced by IL-1 beta"	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.52G>A	3.37:g.157154774G>A	ENSP00000295927:p.Glu18Lys		B2R6T6|Q38M82	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin	p.E18K	ENST00000295927.3	37	c.52	CCDS3180.1	3	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494002	0.64186	.	.	ENSG00000163661	ENST00000295927	T	0.08634	3.07	5.13	4.2	0.49525	.	1.000550	0.08063	N	0.998653	T	0.10465	0.0256	L	0.54323	1.7	0.19575	N	0.999968	D	0.55172	0.97	B	0.38106	0.265	T	0.26052	-1.0114	10	0.51188	T	0.08	-14.0049	11.9372	0.52880	0.0:0.299:0.701:0.0	.	18	P26022	PTX3_HUMAN	K	18	ENSP00000295927:E18K	ENSP00000295927:E18K	E	+	1	0	PTX3	158637468	0.940000	0.31905	0.126000	0.21872	0.991000	0.79684	1.519000	0.35888	2.396000	0.81511	0.561000	0.74099	GAG	PTX3	-	NULL		0.473	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTX3	HGNC	protein_coding	OTTHUMT00000352028.1	G	NM_002852		157154774	1	no_errors	ENST00000295927	ensembl	human	known	70_37	missense	SNP	0.175	A	A	157154774	G	A	157154774	3	1	193	1	0	0	0	0	1	0	0	0	12852	1059	37	1	54	1	PTX3	3	157154774	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	23490811	157154774	40867656	83	36743										
IFT80	57560	genome.wustl.edu	37	chr3	159995098	159995098	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaagcattcttattacctttCccagttgtagagattaatat	5	7	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:159995098C>A	ENST00000326448.7	-	18	2527	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	IFT80_ENST00000483465.1_Nonsense_Mutation_p.E562*|RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.E870*|IFT80_ENST00000496589.1_Nonsense_Mutation_p.E562*	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	699					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATTACCTTTCCCAGTTGTAG	0.343																																																	0													99	102	101					3																	159995098		2203	4300	6503	SO:0001587	stop_gained	0			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.2095G>T	3.37:g.159995098C>A	ENSP00000312778:p.Glu699*		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E870*	ENST00000326448.7	37	c.2608	CCDS3188.1	3	.	.	.	.	.	.	.	.	.	.	C	46	12.188748	0.99644	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	.	.	.	5.47	5.47	0.80525	.	0.192375	0.32041	U	0.006676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-9.3895	19.3255	0.94260	0.0:1.0:0.0:0.0	.	.	.	.	X	699;562;562	.	ENSP00000312778:E699X	E	-	1	0	IFT80	161477792	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.481000	0.60250	2.544000	0.85801	0.655000	0.94253	GAA	TRIM59	-	NULL		0.343	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248710	Uniprot_genename	protein_coding	OTTHUMT00000352651.2	C	NM_020800		159995098	-1	no_errors	ENST00000483754	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	159995098	C	A	159995098	4	1	193	1	0	0	0	0	0	1	0	0	7584	864	30	3	250	3	IFT80	3	159995098	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2840324	159995098	38027332	84	36744										
ZBBX	79740	genome.wustl.edu	37	chr3	167090681	167090681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggaagaactacaaaatctttTctgttcatgattaccacctt	5	9	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:167090681T>C	ENST00000392766.2	-	4	349	c.9A>G	c.(7-9)agA>agG	p.R3R	ZBBX_ENST00000455345.2_Silent_p.R3R|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_5'UTR|ZBBX_ENST00000392767.2_Silent_p.R3R|ZBBX_ENST00000307529.5_Silent_p.R3R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	3						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAAAATCTTTTCTGTTCATGA	0.299																																																	0													52	52	52					3																	167090681		1791	4050	5841	SO:0001819	synonymous_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.9A>G	3.37:g.167090681T>C			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	pfam_Znf_B-box	p.R3	ENST00000392766.2	37	c.9	CCDS3199.2	3																																																																																			ZBBX	-	NULL		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	T	NM_024687		167090681	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	silent	SNP	1.000	C	C	167090681	T	C	167090681	2	2	193	1	0	0	0	0	0	0	0	1	17547	1780	62	5		5	ZBBX	3	167090681	Silent	SNP	T	TCGA-UC-A7PF-01A-11D-A351-09	7095583	167090681	30931749	85	36745										
TNIK	23043	genome.wustl.edu	37	chr3	170841401	170841401	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttaccttgctctgatgggttGagatcctagtctgggtccca	11	10	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:170841401G>A	ENST00000436636.2	-	18	2448	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.Q647*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.Q702*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.Q673*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.Q647*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.Q618*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.Q647*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.Q673*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.Q673*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.Q618*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	702	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGATGGGTTGAGATCCTAGT	0.443																																																	0													112	99	103					3																	170841401		1861	4095	5956	SO:0001587	stop_gained	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2104C>T	3.37:g.170841401G>A	ENSP00000399511:p.Gln702*		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.Q702*	ENST00000436636.2	37	c.2104	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	40	7.985716	0.98596	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	6.17	6.17	0.99709	.	0.055576	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	702;673;647;618;702;618;673;647;647;673	.	ENSP00000284483:Q702X	Q	-	1	0	TNIK	172324095	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.568000	0.90741	2.941000	0.99782	0.655000	0.94253	CAA	TNIK	-	NULL		0.443	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	G	XM_039796		170841401	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	170841401	G	A	170841401	4	1	193	1	0	0	0	0	0	1	0	0	16343	1299	45	1	2042	1	TNIK	3	170841401	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3750720	170841401	27181029	86	36746										
NLGN1	22871	genome.wustl.edu	37	chr3	173996843	173996843	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccaagatattcaaccagctcGataccacatagcctttggac	6	13	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:173996843G>C	ENST00000457714.1	+	6	1481	c.1052G>C	c.(1051-1053)cGa>cCa	p.R351P	NLGN1_ENST00000361589.4_Missense_Mutation_p.R351P|NLGN1_ENST00000545397.1_Missense_Mutation_p.R351P|NLGN1_ENST00000401917.3_Missense_Mutation_p.R391P|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	368					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAACCAGCTCGATACCACATA	0.408																																																	0													217	195	203					3																	173996843		2203	4300	6503	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1052G>C	3.37:g.173996843G>C	ENSP00000392500:p.Arg351Pro		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R391P	ENST00000457714.1	37	c.1172	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642592	0.47153	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	N	0.16743	0.435	0.80722	D	1	B;B	0.20780	0.048;0.007	B;B	0.24394	0.053;0.007	T	0.46775	-0.9167	10	0.26408	T	0.33	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	391;351	D2X2H5;Q8N2Q7-2	.;.	P	351;351;351;391	ENSP00000392500:R351P;ENSP00000354541:R351P;ENSP00000441108:R351P;ENSP00000385750:R391P	ENSP00000354541:R351P	R	+	2	0	NLGN1	175479537	1.000000	0.71417	0.951000	0.38953	0.922000	0.55478	9.869000	0.99810	2.797000	0.96272	0.563000	0.77884	CGA	NLGN1	-	pfam_CarbesteraseB		0.408	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	G	NM_014932		173996843	1	no_errors	ENST00000401917	ensembl	human	known	70_37	missense	SNP	1.000	C	C	173996843	G	C	173996843	3	2	193	1	0	0	0	0	1	0	0	0	10485	1058	37	1	1066	1	NLGN1	3	173996843	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3155442	173996843	24025587	87	36747										
FXR1	8087	genome.wustl.edu	37	chr3	180688094	180688094	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	actgatgaagatgctgttctGatggatggaatgactgaatc	12	5	1	6			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:180688094G>A	ENST00000357559.4	+	15	1935	c.1551G>A	c.(1549-1551)ctG>ctA	p.L517L	FXR1_ENST00000491062.1_Silent_p.L468L|FXR1_ENST00000445140.2_Silent_p.L517L|FXR1_ENST00000468861.1_Silent_p.L432L|FXR1_ENST00000305586.7_Silent_p.L432L|FXR1_ENST00000480918.1_Silent_p.L504L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	517					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATGCTGTTCTGATGGATGGAA	0.398																																																	0													126	109	115					3																	180688094		2203	4300	6503	SO:0001819	synonymous_variant	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1551G>A	3.37:g.180688094G>A			A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.L517	ENST00000357559.4	37	c.1551	CCDS3238.1	3																																																																																			FXR1	-	NULL		0.398	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	G			180688094	1	no_errors	ENST00000357559	ensembl	human	known	70_37	silent	SNP	0.998	A	A	180688094	G	A	180688094	2	1	193	1	0	0	0	0	0	0	0	1	6133	1277	45	1		1	FXR1	3	180688094	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	6691251	180688094	17334336	88	36748										
FAM131A	131408	genome.wustl.edu	37	chr3	184056262	184056262	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gggatctgctcgaaccctccGaggctggagcaggtcctccc	13	15	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:184056262G>A	ENST00000310585.4	+	0	0				FAM131A_ENST00000497070.1_3'UTR|FAM131A_ENST00000418281.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.R59Q|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000450976.1_5'UTR|FAM131A_ENST00000453072.1_5'Flank			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGAACCCTCCGAGGCTGGAGC	0.627																																																	0													57	59	58					3																	184056262		692	1591	2283	SO:0001631	upstream_gene_variant	131408			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 40"	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206		3.37:g.184056262G>A	Exception_encountered		D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	NULL	p.R59Q	ENST00000310585.4	37	c.176		3	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914326	0.52546	.	.	ENSG00000175182	ENST00000383847	T	0.22539	1.95	4.48	2.41	0.29592	.	.	.	.	.	T	0.16385	0.0394	N	0.22421	0.69	0.80722	D	1	.	.	.	.	.	.	T	0.06075	-1.0847	7	0.21014	T	0.42	.	9.3699	0.38248	0.0:0.0:0.6919:0.3081	.	.	.	.	Q	59	ENSP00000373360:R59Q	ENSP00000373360:R59Q	R	+	2	0	FAM131A	185538956	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.578000	0.36525	2.026000	0.59711	0.491000	0.48974	CGA	FAM131A	-	NULL		0.627	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	G	NM_144635		184056262	1	no_errors	ENST00000383847	ensembl	human	known	70_37	missense	SNP	1.000	A	A	184056262	G	A	184056262	1	1	193	0	1	0	0	0	0	0	0	0	5454	1058	37	1		1	FAM131A	3	184056262	5'Flank	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3368168	184056262	13966168	89	36749										
VPS8	23355	genome.wustl.edu	37	chr3	184642661	184642661	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gctcttcaggttatggtggaGaattcagactttaccccctc	9	11	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:184642661G>A	ENST00000437079.3	+	30	2637	c.2466G>A	c.(2464-2466)gaG>gaA	p.E822E	VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000446204.2_Silent_p.E730E|VPS8_ENST00000436792.2_Silent_p.E820E|VPS8_ENST00000287546.4_Silent_p.E822E	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	822							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTATGGTGGAGAATTCAGACT	0.398																																																	0													131	119	123					3																	184642661		1896	4117	6013	SO:0001819	synonymous_variant	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2466G>A	3.37:g.184642661G>A			A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent	SNP	superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E822	ENST00000437079.3	37	c.2466	CCDS46971.1	3																																																																																			VPS8	-	superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold		0.398	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		G	NM_015303		184642661	1	no_errors	ENST00000287546	ensembl	human	known	70_37	silent	SNP	1.000	A	A	184642661	G	A	184642661	2	1	193	1	0	0	0	0	0	0	0	1	17249	933	33	1		1	VPS8	3	184642661	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	586399	184642661	13379769	90	36750										
SST	6750	genome.wustl.edu	37	chr3	187388066	187388066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cagccagcgcgcactggaggCggcaggacagcatctcggcg	16	14	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:187388066C>T	ENST00000287641.3	-	1	121	c.14G>A	c.(13-15)cGc>cAc	p.R5H		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	5					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GCACTGGAGGCGGCAGGACAG	0.672																																																	0													14	13	13					3																	187388066		2192	4290	6482	SO:0001583	missense	6750				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.14G>A	3.37:g.187388066C>T	ENSP00000287641:p.Arg5His		B2R5G3|P01166	Missense_Mutation	SNP	pfam_Somatostatin/Cortistatin_C,pirsf_Somatostatin	p.R5H	ENST00000287641.3	37	c.14	CCDS3288.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.288730	0.95517	.	.	ENSG00000157005	ENST00000287641	T	0.34072	1.38	5.48	5.48	0.80851	.	0.229124	0.44902	D	0.000414	T	0.55673	0.1935	M	0.75777	2.31	0.54753	D	0.999981	D	0.62365	0.991	P	0.54965	0.765	T	0.60439	-0.7263	10	0.72032	D	0.01	-9.1293	17.9406	0.89025	0.0:1.0:0.0:0.0	.	5	P61278	SMS_HUMAN	H	5	ENSP00000287641:R5H	ENSP00000287641:R5H	R	-	2	0	SST	188870760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.822000	0.69265	2.560000	0.86352	0.563000	0.77884	CGC	SST	-	pirsf_Somatostatin		0.672	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SST	HGNC	protein_coding	OTTHUMT00000344278.1	C	NM_001048		187388066	-1	no_errors	ENST00000287641	ensembl	human	known	70_37	missense	SNP	1.000	T	T	187388066	C	T	187388066	3	4	193	1	0	0	0	0	1	0	0	0	15226	768	27	2	344	2	SST	3	187388066	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2745405	187388066	10634364	91	36751										
OPA1	4976	genome.wustl.edu	37	chr3	193332657	193332657	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cccaattaaggacatcctttCagcagttctcttctctgaca	5	13	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:193332657C>T	ENST00000392438.3	+	2	412	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	OPA1_ENST00000361828.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000361510.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000361715.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000361908.3_Nonsense_Mutation_p.Q60*	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	60					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		gacatcctttcagcagttctc	0.393																																																	0													88	76	80					3																	193332657		2203	4300	6503	SO:0001587	stop_gained	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.178C>T	3.37:g.193332657C>T	ENSP00000376233:p.Gln60*		D3DNW4	Nonsense_Mutation	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.Q60*	ENST00000392438.3	37	c.178	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.725737	0.97792	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000392436	.	.	.	5.87	5.87	0.94306	.	0.259771	0.35555	N	0.003133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-3.4975	19.1927	0.93674	0.0:1.0:0.0:0.0	.	.	.	.	X	60	.	ENSP00000354781:Q60X	Q	+	1	0	OPA1	194815351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.874000	0.63064	2.780000	0.95670	0.650000	0.86243	CAG	OPA1	-	NULL		0.393	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	C	NM_130837		193332657	1	no_errors	ENST00000361510	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	193332657	C	T	193332657	4	4	193	1	0	0	0	0	0	1	0	0	10895	827	29	1	184	1	OPA1	3	193332657	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	5944591	193332657	4689773	92	36752										
OPA1	4976	genome.wustl.edu	37	chr3	193355761	193355761	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gttgttgtggttggagatcaGagtgctggaaagactagtgt	16	3	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:193355761G>C	ENST00000392438.3	+	9	1125	c.891G>C	c.(889-891)caG>caC	p.Q297H	OPA1_ENST00000361510.2_Missense_Mutation_p.Q352H|OPA1_ENST00000361828.2_Missense_Mutation_p.Q315H|OPA1_ENST00000361908.3_Missense_Mutation_p.Q334H|OPA1_ENST00000361715.2_Missense_Mutation_p.Q316H|OPA1_ENST00000361150.2_Missense_Mutation_p.Q298H	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	297	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTGGAGATCAGAGTGCTGGAA	0.388																																																	0													189	176	181					3																	193355761		2203	4300	6503	SO:0001583	missense	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.891G>C	3.37:g.193355761G>C	ENSP00000376233:p.Gln297His		D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.Q352H	ENST00000392438.3	37	c.1056	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463343	0.63513	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	5.6	2.79	0.32731	Dynamin, GTPase domain (2);	0.054834	0.85682	D	0.000000	D	0.98845	0.9610	H	0.98786	4.33	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.999;1.0;0.998;1.0	D	0.96873	0.9641	10	0.87932	D	0	-13.3164	5.7591	0.18190	0.2543:0.1424:0.6033:0.0	.	261;297;279;298;315;334;316;352	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	H	334;297;352;316;315;298	ENSP00000354681:Q334H;ENSP00000376233:Q297H;ENSP00000355324:Q352H;ENSP00000355311:Q316H;ENSP00000354429:Q315H;ENSP00000354781:Q298H	ENSP00000354781:Q298H	Q	+	3	2	OPA1	194838455	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.803000	0.62546	0.289000	0.22422	0.591000	0.81541	CAG	OPA1	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin		0.388	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	G	NM_130837		193355761	1	no_errors	ENST00000361510	ensembl	human	known	70_37	missense	SNP	1.000	C	C	193355761	G	C	193355761	3	2	193	1	0	0	0	0	1	0	0	0	10895	933	33	1	1098	1	OPA1	3	193355761	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	23104	193355761	4666669	93	36753										
TMEM44	93109	genome.wustl.edu	37	chr3	194337995	194337995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggagggaaatgtcttcccccGgcactgggcagagagaggga	17	9	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:194337995G>A	ENST00000392432.2	-	7	962	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	TMEM44_ENST00000347147.4_Missense_Mutation_p.R206W|TMEM44_ENST00000473092.1_Missense_Mutation_p.R206W|TMEM44_ENST00000381975.3_Missense_Mutation_p.R206W|TMEM44_ENST00000273580.7_Missense_Mutation_p.R206W	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	253						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GTCTTCCCCCGGCACTGGGCA	0.677																																																	0													11	10	11					3																	194337995		2074	4082	6156	SO:0001583	missense	93109			AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.757C>T	3.37:g.194337995G>A	ENSP00000376227:p.Arg253Trp		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	NULL	p.R253W	ENST00000392432.2	37	c.757	CCDS54699.1	3	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710844	0.68730	.	.	ENSG00000145014	ENST00000392432;ENST00000273580;ENST00000347147;ENST00000381975;ENST00000473092	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.05	5.05	0.67936	.	0.781376	0.10820	N	0.630640	T	0.51193	0.1660	L	0.47716	1.5	0.48830	D	0.99971	D;D;D;D;D	0.76494	0.997;0.999;0.997;0.998;0.997	P;P;P;P;P	0.59703	0.736;0.862;0.742;0.742;0.736	T	0.45425	-0.9262	10	0.87932	D	0	-6.765	14.3016	0.66357	0.0:0.0:1.0:0.0	.	206;253;206;206;206	E9PGA9;Q2T9K0;Q2T9K0-4;Q2T9K0-2;Q2T9K0-6	.;TMM44_HUMAN;.;.;.	W	253;206;206;206;206	ENSP00000376227:R253W;ENSP00000273580:R206W;ENSP00000333355:R206W;ENSP00000371402:R206W;ENSP00000418674:R206W	ENSP00000273580:R206W	R	-	1	2	TMEM44	195819284	0.696000	0.27757	0.856000	0.33681	0.615000	0.37417	1.175000	0.31944	2.516000	0.84829	0.655000	0.94253	CGG	TMEM44	-	NULL		0.677	TMEM44-002	KNOWN	basic|CCDS	protein_coding	TMEM44	HGNC	protein_coding	OTTHUMT00000342750.1	G	NM_138399		194337995	-1	no_errors	ENST00000392432	ensembl	human	known	70_37	missense	SNP	0.923	A	A	194337995	G	A	194337995	3	1	193	1	0	0	0	0	1	0	0	0	16198	1115	39	2	724	2	TMEM44	3	194337995	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	982234	194337995	3684435	94	36754										
GRK4	2868	genome.wustl.edu	37	chr4	3040219	3040219	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agaccaaacagaggcttcttCtatagactcttcagaagagg	9	9	4	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:3040219C>G	ENST00000398052.4	+	15	2005	c.1662C>G	c.(1660-1662)ttC>ttG	p.F554L	GRK4_ENST00000398051.4_Intron|GRK4_ENST00000504933.1_Intron|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.F522L	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	554					G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGGCTTCTTCTATAGACTCT	0.368																																																	0													93	101	99					4																	3040219		2203	4300	6503	SO:0001583	missense	2868				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1662C>G	4.37:g.3040219C>G	ENSP00000381129:p.Phe554Leu		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.F554L	ENST00000398052.4	37	c.1662	CCDS33946.1	4	.	.	.	.	.	.	.	.	.	.	C	2.071	-0.413114	0.04799	.	.	ENSG00000125388	ENST00000398052;ENST00000345167	T;T	0.64260	-0.09;-0.09	5.09	2.3	0.28687	.	0.000000	0.85682	U	0.000000	T	0.38852	0.1056	L	0.28504	0.86	0.80722	D	1	B;B	0.14012	0.009;0.005	B;B	0.16722	0.016;0.007	T	0.08493	-1.0719	10	0.10377	T	0.69	-9.2259	2.0461	0.03561	0.1758:0.4757:0.1731:0.1754	.	522;554	P32298-2;P32298	.;GRK4_HUMAN	L	554;522	ENSP00000381129:F554L;ENSP00000264764:F522L	ENSP00000264764:F522L	F	+	3	2	GRK4	3010017	0.019000	0.18553	0.614000	0.29051	0.742000	0.42306	0.179000	0.16840	0.625000	0.30304	0.462000	0.41574	TTC	GRK4	-	NULL		0.368	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	C	NM_005307		3040219	1	no_errors	ENST00000398052	ensembl	human	known	70_37	missense	SNP	0.928	G	G	3040219	C	G	3040219	3	3	193	1	0	0	0	0	1	0	0	0	6811	912	32	1	1720	1	GRK4	4	3040219	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		3040219	188114057	95	36755										
WFS1	7466	genome.wustl.edu	37	chr4	6279366	6279366	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gagacgcagcggcccccgctGaaccccaggcccagcatacc	11	19	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:6279366G>A	ENST00000226760.1	+	2	354	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	WFS1_ENST00000503569.1_Missense_Mutation_p.E62K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	62					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGCCCCCGCTGAACCCCAGGC	0.682																																																	0													10	11	11					4																	6279366		2152	4225	6377	SO:0001583	missense	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.184G>A	4.37:g.6279366G>A	ENSP00000226760:p.Glu62Lys		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.E62K	ENST00000226760.1	37	c.184	CCDS3386.1	4	.	.	.	.	.	.	.	.	.	.	G	6.414	0.444467	0.12164	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.93019	-3.15;-3.15	3.42	-2.44	0.06502	.	2.790640	0.01360	N	0.012197	D	0.87521	0.6198	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75453	-0.3312	10	0.34782	T	0.22	-0.3836	8.4438	0.32830	0.5216:0.0:0.4784:0.0	.	62	O76024	WFS1_HUMAN	K	62	ENSP00000423337:E62K;ENSP00000226760:E62K	ENSP00000226760:E62K	E	+	1	0	WFS1	6330267	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.741000	0.04855	-0.641000	0.05487	0.462000	0.41574	GAA	WFS1	-	NULL		0.682	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1	G			6279366	1	no_errors	ENST00000226760	ensembl	human	known	70_37	missense	SNP	0.000	A	A	6279366	G	A	6279366	3	1	193	1	0	0	0	0	1	0	0	0	17391	1291	45	1	186	1	WFS1	4	6279366	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3239147	6279366	184874910	96	36756										
KCTD8	386617	genome.wustl.edu	37	chr4	44450311	44450311	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gggcgccgccacggggactaGagggcgagaacatgctggcc	18	12	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:44450311G>A	ENST00000360029.3	-	1	513	c.230C>T	c.(229-231)tCt>tTt	p.S77F	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	77	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACGGGGACTAGAGGGCGAGAA	0.652										HNSCC(17;0.042)																																							0													17	16	16					4																	44450311		2165	4230	6395	SO:0001583	missense	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.230C>T	4.37:g.44450311G>A	ENSP00000353129:p.Ser77Phe		A2RU39	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.S77F	ENST00000360029.3	37	c.230	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526812	0.44969	.	.	ENSG00000183783	ENST00000360029	T	0.77620	-1.11	3.41	3.41	0.39046	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.992695	0.08176	N	0.986302	T	0.79393	0.4438	L	0.50919	1.6	0.09310	N	1	P	0.45715	0.865	P	0.50314	0.637	T	0.67345	-0.5694	10	0.72032	D	0.01	.	8.8456	0.35168	0.0:0.2574:0.7426:0.0	.	77	Q6ZWB6	KCTD8_HUMAN	F	77	ENSP00000353129:S77F	ENSP00000353129:S77F	S	-	2	0	KCTD8	44145068	0.444000	0.25649	0.103000	0.21229	0.918000	0.54935	3.893000	0.56243	1.703000	0.51240	0.467000	0.42956	TCT	KCTD8	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.652	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	G			44450311	-1	no_errors	ENST00000360029	ensembl	human	known	70_37	missense	SNP	0.048	A	A	44450311	G	A	44450311	3	1	193	1	0	0	0	0	1	0	0	0	8135	942	33	1	1199	1	KCTD8	4	44450311	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	38170945	44450311	146703965	97	36757										
GABRB1	2560	genome.wustl.edu	37	chr4	47427865	47427865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggcctacgggcgcgccctgGaccggcacggggtacccagc	16	16	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:47427865G>T	ENST00000295454.3	+	9	1547	c.1255G>T	c.(1255-1257)Gac>Tac	p.D419Y	GABRB1_ENST00000538619.1_Missense_Mutation_p.D349Y	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	419					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGCGCCCTGGACCGGCACGG	0.637																																																	0													44	49	47					4																	47427865		2203	4300	6503	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1255G>T	4.37:g.47427865G>T	ENSP00000295454:p.Asp419Tyr		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.D419Y	ENST00000295454.3	37	c.1255	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643509	0.47258	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.83755	-1.76;-1.76	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.286719	0.32473	N	0.006047	D	0.88500	0.6453	M	0.78049	2.395	0.43342	D	0.995399	B;D	0.53885	0.024;0.963	B;P	0.51487	0.06;0.671	D	0.89514	0.3773	10	0.66056	D	0.02	-14.3991	19.3205	0.94236	0.0:0.0:1.0:0.0	.	349;419	F5GXV5;P18505	.;GBRB1_HUMAN	Y	419;349	ENSP00000295454:D419Y;ENSP00000440330:D349Y	ENSP00000295454:D419Y	D	+	1	0	GABRB1	47122622	1.000000	0.71417	0.997000	0.53966	0.132000	0.20833	9.519000	0.98025	2.803000	0.96430	0.650000	0.86243	GAC	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.637	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	G			47427865	1	no_errors	ENST00000295454	ensembl	human	known	70_37	missense	SNP	1.000	T	T	47427865	G	T	47427865	3	4	193	1	0	0	0	0	1	0	0	0	6184	1174	41	3	1289	3	GABRB1	4	47427865	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2977554	47427865	143726411	98	36758										
SEC31A	22872	genome.wustl.edu	37	chr4	83740402	83740402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaccactggtgattgttggtGaaagctgaaacaaaagtgaa	11	5	0	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:83740402G>A	ENST00000395310.2	-	27	3670	c.3488C>T	c.(3487-3489)tCa>tTa	p.S1163L	SEC31A_ENST00000326950.5_Missense_Mutation_p.S1124L|SEC31A_ENST00000508502.1_Missense_Mutation_p.S1148L|SEC31A_ENST00000355196.2_Missense_Mutation_p.S1163L|SEC31A_ENST00000505984.1_Missense_Mutation_p.S1109L|SEC31A_ENST00000500777.2_Missense_Mutation_p.S1010L|SEC31A_ENST00000264405.5_Missense_Mutation_p.S912L|SEC31A_ENST00000443462.2_Missense_Mutation_p.S1143L|SEC31A_ENST00000509142.1_Missense_Mutation_p.S1049L|SEC31A_ENST00000513858.1_Missense_Mutation_p.S1010L|SEC31A_ENST00000348405.4_Missense_Mutation_p.S1124L|SEC31A_ENST00000448323.1_Missense_Mutation_p.S1163L|SEC31A_ENST00000311785.7_Missense_Mutation_p.S1049L|SEC31A_ENST00000432794.1_Missense_Mutation_p.S1176L|SEC31A_ENST00000505472.1_Missense_Mutation_p.S1194L	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1163					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GATTGTTGGTGAAAGCTGAAA	0.383																																																	0													149	134	139					4																	83740402		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3488C>T	4.37:g.83740402G>A	ENSP00000378721:p.Ser1163Leu		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1176L	ENST00000395310.2	37	c.3527	CCDS3596.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.796214|3.796214	0.70567|0.70567	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.61274	.|0.81;0.34;1.91;1.74;0.12;1.84;1.91;0.81;0.12;0.77;0.34;1.84;1.91;2.75;1.64	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80944|0.80944	0.4721|0.4721	M|M	0.87456|0.87456	2.885|2.885	0.48975|0.48975	D|D	0.999732|0.999732	.|D;D;D;D;D;D;D;P;D	.|0.89917	.|0.995;0.993;1.0;1.0;1.0;0.997;1.0;0.937;0.999	.|D;D;D;D;D;D;D;P;D	.|0.87578	.|0.989;0.977;0.996;0.998;0.996;0.995;0.996;0.748;0.998	T|T	0.83259|0.83259	-0.0049|-0.0049	5|10	.|0.87932	.|D	.|0	-14.3934|-14.3934	19.9928|19.9928	0.97374|0.97374	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1143;1109;1010;1124;1049;1148;1163;912;1176	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	Y|L	326|1124;1010;1163;1143;1049;1176;1163;1124;1049;1194;1010;1148;1163;912;1109	.|ENSP00000337602:S1124L;ENSP00000426886:S1010L;ENSP00000378721:S1163L;ENSP00000408027:S1143L;ENSP00000426569:S1049L;ENSP00000407944:S1176L;ENSP00000400926:S1163L;ENSP00000325087:S1124L;ENSP00000309070:S1049L;ENSP00000421633:S1194L;ENSP00000421464:S1010L;ENSP00000424635:S1148L;ENSP00000347329:S1163L;ENSP00000264405:S912L;ENSP00000424451:S1109L	.|ENSP00000264405:S912L	H|S	-|-	1|2	0|0	SEC31A|SEC31A	83959426|83959426	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.041000|0.041000	0.13682|0.13682	9.750000|9.750000	0.98875|0.98875	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	CAC|TCA	SEC31A	-	NULL		0.383	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	G	NM_016211		83740402	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	A	A	83740402	G	A	83740402	3	1	193	1	0	0	0	0	1	0	0	0	14028	1294	45	1	178	1	SEC31A	4	83740402	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	36312537	83740402	107413874	99	36759										
PTPN13	5783	genome.wustl.edu	37	chr4	87638211	87638211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcctcaaagaggtttgaatcCagcagtggtctcccaggggt	13	10	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:87638211C>T	ENST00000411767.2	+	9	1389	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	PTPN13_ENST00000427191.2_Silent_p.S442S|PTPN13_ENST00000316707.6_Silent_p.S442S|PTPN13_ENST00000511467.1_Silent_p.S442S|PTPN13_ENST00000436978.1_Silent_p.S442S			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	442					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGTTTGAATCCAGCAGTGGTC	0.393																																																	0													66	66	66					4																	87638211		1843	4096	5939	SO:0001819	synonymous_variant	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1326C>T	4.37:g.87638211C>T			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S442	ENST00000411767.2	37	c.1326	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.393	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	C			87638211	1	no_errors	ENST00000436978	ensembl	human	known	70_37	silent	SNP	1.000	T	T	87638211	C	T	87638211	2	4	193	1	0	0	0	0	0	0	0	1	12810	581	21	4		4	PTPN13	4	87638211	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3897809	87638211	103516065	100	36760										
SPP1	6696	genome.wustl.edu	37	chr4	88901544	88901544	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cacgtgccattccttcttcaGaatgctgtgtcctctgaaga	8	12	3	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:88901544G>C	ENST00000395080.3	+	5	301		c.e5-1		SPP1_ENST00000237623.7_Intron|SPP1_ENST00000509659.1_Splice_Site|SPP1_ENST00000360804.4_Splice_Site	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1						biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TCCTTCTTCAGAATGCTGTGT	0.383																																																	0													76	77	77					4																	88901544		2203	4300	6503	SO:0001630	splice_region_variant	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.175-1G>C	4.37:g.88901544G>C			B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Splice_Site	SNP	-	e4-1	ENST00000395080.3	37	c.175-1	CCDS43250.1	4	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645829	0.29246	.	.	ENSG00000118785	ENST00000359072;ENST00000395080;ENST00000360804	.	.	.	6.04	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.588	0.56428	0.0774:0.0:0.9226:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPP1	89120568	1.000000	0.71417	0.882000	0.34594	0.291000	0.27294	3.127000	0.50484	1.578000	0.49821	0.643000	0.83706	.	SPP1	-	-		0.383	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	G		Intron	88901544	1	no_errors	ENST00000395080	ensembl	human	known	70_37	splice_site	SNP	0.984	C	C	88901544	G	C	88901544	5	2	193	1	0	0	0	0	0	0	1	0	15116	956	33	1	188	1	SPP1	4	88901544	Splice_Site	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1263333	88901544	102252732	101	36761										
GPRIN3	285513	genome.wustl.edu	37	chr4	90169501	90169501	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tctaaggtgctctcctggttCttcctaattggggagggtgt	13	8	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:90169501C>T	ENST00000609438.1	-	2	2279	c.1761G>A	c.(1759-1761)aaG>aaA	p.K587K	GPRIN3_ENST00000333209.4_Silent_p.K587K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	587										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCCTGGTTCTTCCTAATTG	0.522																																																	0													105	104	104					4																	90169501		2203	4300	6503	SO:0001819	synonymous_variant	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1761G>A	4.37:g.90169501C>T			Q8IVE4	Silent	SNP	NULL	p.K587	ENST00000609438.1	37	c.1761	CCDS34030.1	4																																																																																			GPRIN3	-	NULL		0.522	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	C	NM_198281		90169501	-1	no_errors	ENST00000333209	ensembl	human	known	70_37	silent	SNP	0.000	T	T	90169501	C	T	90169501	2	4	193	1	0	0	0	0	0	0	0	1	6751	912	32	1		1	GPRIN3	4	90169501	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1267957	90169501	100984775	102	36762										
BANK1	55024	genome.wustl.edu	37	chr4	102946642	102946642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tagctaatgccttccaactgGaaagacctcacttcacctta	5	13	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:102946642G>A	ENST00000322953.4	+	9	1844	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	BANK1_ENST00000508653.1_Missense_Mutation_p.E391K|BANK1_ENST00000428908.1_Missense_Mutation_p.E391K|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000444316.2_Missense_Mutation_p.E494K|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000504592.1_Missense_Mutation_p.E509K	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	524					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTTCCAACTGGAAAGACCTCA	0.443																																																	0													53	54	54					4																	102946642		2203	4300	6503	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1570G>A	4.37:g.102946642G>A	ENSP00000320509:p.Glu524Lys		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.E524K	ENST00000322953.4	37	c.1570	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166761	0.57476	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	4.8	3.95	0.45737	.	1.045680	0.07549	N	0.915110	T	0.38188	0.1031	N	0.19112	0.55	0.19300	N	0.999977	B;B;B	0.25563	0.129;0.129;0.129	B;B;B	0.30572	0.117;0.067;0.067	T	0.30880	-0.9963	10	0.62326	D	0.03	.	10.7147	0.46005	0.0907:0.0:0.9093:0.0	.	391;524;509	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	K	509;524;391;391;494	ENSP00000421443:E509K;ENSP00000320509:E524K;ENSP00000412748:E391K;ENSP00000422314:E391K;ENSP00000388817:E494K	ENSP00000320509:E524K	E	+	1	0	BANK1	103165665	0.261000	0.24063	0.105000	0.21289	0.138000	0.21146	1.335000	0.33839	2.222000	0.72286	0.591000	0.81541	GAA	BANK1	-	NULL		0.443	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	G	NM_017935		102946642	1	no_errors	ENST00000322953	ensembl	human	known	70_37	missense	SNP	0.300	A	A	102946642	G	A	102946642	3	1	193	1	0	0	0	0	1	0	0	0	1310	1175	41	1	1604	1	BANK1	4	102946642	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	12777141	102946642	88207634	103	36763										
TLR3	7098	genome.wustl.edu	37	chr4	187004056	187004056	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaacatttgtatcacttgctCattctcccttacacatactc	2	13	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:187004056C>T	ENST00000296795.3	+	4	1320	c.1216C>T	c.(1216-1218)Cat>Tat	p.H406Y	TLR3_ENST00000504367.1_Missense_Mutation_p.H129Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	406					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATCACTTGCTCATTCTCCCTT	0.373																																																	0													63	59	60					4																	187004056		2203	4300	6503	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1216C>T	4.37:g.187004056C>T	ENSP00000296795:p.His406Tyr		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.H406Y	ENST00000296795.3	37	c.1216	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	1.617	-0.522575	0.04141	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020;ENST00000504367	T;T;T	0.35236	1.47;1.43;1.32	5.78	1.84	0.25277	.	0.851711	0.11244	N	0.584297	T	0.23133	0.0559	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21042	-1.0257	10	0.54805	T	0.06	.	3.5237	0.07752	0.3679:0.3364:0.2199:0.0759	.	406	O15455	TLR3_HUMAN	Y	406;342;406;129	ENSP00000296795:H406Y;ENSP00000423386:H342Y;ENSP00000423684:H129Y	ENSP00000296795:H406Y	H	+	1	0	TLR3	187241050	0.900000	0.30661	0.998000	0.56505	0.345000	0.29048	0.752000	0.26362	0.781000	0.33589	0.557000	0.71058	CAT	TLR3	-	smart_Leu-rich_rpt_typical-subtyp		0.373	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	C			187004056	1	no_errors	ENST00000296795	ensembl	human	known	70_37	missense	SNP	0.057	T	T	187004056	C	T	187004056	3	4	193	1	0	0	0	0	1	0	0	0	15982	826	29	1	1226	1	TLR3	4	187004056	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	84057414	187004056	4150220	104	36764										
NKD2	85409	genome.wustl.edu	37	chr5	1036407	1036407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cccccagccctgctcggagcGggggccctactgcgtggacg	15	17	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:1036407G>A	ENST00000296849.5	+	9	924	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000274150.4_Missense_Mutation_p.R232Q|NKD2_ENST00000537972.1_Missense_Mutation_p.R232Q	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	232					exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGCTCGGAGCGGGGGCCCTAC	0.657																																																	0													63	53	57					5																	1036407		2203	4299	6502	SO:0001583	missense	85409			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.695G>A	5.37:g.1036407G>A	ENSP00000296849:p.Arg232Gln		Q96EK8|Q9BSN0	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R232Q	ENST00000296849.5	37	c.695	CCDS3859.1	5	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858952	0.17178	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.64803	0.89;-0.12;-0.12	4.39	2.6	0.31112	.	0.075874	0.53938	D	0.000058	T	0.45955	0.1368	L	0.41961	1.31	0.80722	D	1	B;B	0.28470	0.213;0.18	B;B	0.17722	0.014;0.019	T	0.20140	-1.0284	10	0.24483	T	0.36	-8.0265	6.7936	0.23713	0.222:0.0:0.778:0.0	.	232;232	Q969F2-2;Q969F2	.;NKD2_HUMAN	Q	232	ENSP00000296849:R232Q;ENSP00000274150:R232Q;ENSP00000440925:R232Q	ENSP00000274150:R232Q	R	+	2	0	NKD2	1089407	0.962000	0.33011	0.005000	0.12908	0.030000	0.12068	3.506000	0.53364	0.308000	0.22923	-0.424000	0.05967	CGG	NKD2	-	NULL		0.657	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2	G	NM_033120		1036407	1	no_errors	ENST00000296849	ensembl	human	known	70_37	missense	SNP	0.943	A	A	1036407	G	A	1036407	3	1	193	1	0	0	0	0	1	0	0	0	10466	1116	39	2	729	2	NKD2	5	1036407	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		1036407	179878853	105	36765										
ADAMTS16	170690	genome.wustl.edu	37	chr5	5140861	5140861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctccacccgcggagcggccgGgctggatggaaaagggcggt	18	12	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:5140861G>A	ENST00000274181.7	+	2	295	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.G53S|CTD-2297D10.1_ENST00000514848.1_RNA|CTD-2297D10.2_ENST00000512155.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	53					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAGCGGCCGGGCTGGATGGA	0.657																																																	0													6	9	8					5																	5140861		1825	4060	5885	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.157G>A	5.37:g.5140861G>A	ENSP00000274181:p.Gly53Ser		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G53S	ENST00000274181.7	37	c.157	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440396	0.25900	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61040	0.22;0.14	4.05	2.12	0.27331	.	0.821718	0.10161	N	0.708273	T	0.33030	0.0849	N	0.12182	0.205	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.08055	0.001;0.003;0.001	T	0.22556	-1.0213	10	0.08837	T	0.75	.	7.0404	0.25017	0.1007:0.1736:0.7257:0.0	.	53;53;53	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	S	53	ENSP00000274181:G53S;ENSP00000421631:G53S	ENSP00000274181:G53S	G	+	1	0	ADAMTS16	5193861	0.016000	0.18221	0.000000	0.03702	0.052000	0.14988	2.080000	0.41586	0.246000	0.21394	0.313000	0.20887	GGC	ADAMTS16	-	pfam_Peptidase_M12B_N		0.657	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5140861	1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.005	A	A	5140861	G	A	5140861	3	1	193	1	0	0	0	0	1	0	0	0	261	1232	43	4	163	4	ADAMTS16	5	5140861	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4104454	5140861	175774399	106	36766										
KIAA0947	23379	genome.wustl.edu	37	chr5	5460805	5460805	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agcaacactgagagaatcttCtgccacacactccttagttg	7	12	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:5460805C>G	ENST00000296564.7	+	13	1580	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		453					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGAGAATCTTCTGCCACACAC	0.408																																																	0													77	73	74					5																	5460805		1961	4139	6100	SO:0001583	missense	23379																														ENST00000296564.7:c.1358C>G	5.37:g.5460805C>G	ENSP00000296564:p.Ser453Cys		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.S453C	ENST00000296564.7	37	c.1358	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752799	0.69648	.	.	ENSG00000164151	ENST00000296564	T	0.46819	0.86	4.38	3.49	0.39957	.	1.715800	0.03185	N	0.172578	T	0.52092	0.1713	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.55824	0.785	T	0.48822	-0.9001	10	0.87932	D	0	-0.9789	8.7686	0.34717	0.0:0.8865:0.0:0.1135	.	453	Q9Y2F5	K0947_HUMAN	C	453	ENSP00000296564:S453C	ENSP00000296564:S453C	S	+	2	0	KIAA0947	5513805	0.010000	0.17322	0.004000	0.12327	0.867000	0.49689	1.725000	0.38074	2.130000	0.65690	0.305000	0.20034	TCT	KIAA0947	-	NULL		0.408	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	C			5460805	1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.002	G	G	5460805	C	G	5460805	3	3	193	1	0	0	0	0	1	0	0	0	8222	913	32	1	1408	1	KIAA0947	5	5460805	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	319944	5460805	175454455	107	36767										
ADAMTS12	81792	genome.wustl.edu	37	chr5	33616032	33616032	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtccctgccagcttatagttCccgttccactggataataaa	7	12	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:33616032C>T	ENST00000504830.1	-	15	2624	c.2289G>A	c.(2287-2289)ggG>ggA	p.G763G	ADAMTS12_ENST00000352040.3_Silent_p.G678G|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	763	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTTATAGTTCCCGTTCCACT	0.483										HNSCC(64;0.19)																																							0													143	131	135					5																	33616032		2203	4300	6503	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2289G>A	5.37:g.33616032C>T			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G763	ENST00000504830.1	37	c.2289	CCDS34140.1	5																																																																																			ADAMTS12	-	pfam_ADAM_spacer1		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33616032	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	silent	SNP	0.929	T	T	33616032	C	T	33616032	2	4	193	1	0	0	0	0	0	0	0	1	257	842	30	1		1	ADAMTS12	5	33616032	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	28155227	33616032	147299228	108	36768										
NIPBL	25836	genome.wustl.edu	37	chr5	36972051	36972051	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tatactctatttttaggatgGagattcttcaacaatgagga	8	5	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:36972051G>C	ENST00000282516.8	+	8	1275	c.776G>C	c.(775-777)gGa>gCa	p.G259A	NIPBL_ENST00000448238.2_Missense_Mutation_p.G259A|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	259					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTTAGGATGGAGATTCTTCA	0.383																																																	0													55	53	54					5																	36972051		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.776G>C	5.37:g.36972051G>C	ENSP00000282516:p.Gly259Ala		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G259A	ENST00000282516.8	37	c.776	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113963	0.56398	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94457	-3.42;-3.43	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	N	0.19112	0.55	0.36340	D	0.859406	P;P	0.42456	0.673;0.78	B;B	0.32211	0.067;0.142	D	0.88977	0.3405	10	0.21014	T	0.42	.	19.3804	0.94530	0.0:0.0:1.0:0.0	.	259;259	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	259	ENSP00000282516:G259A;ENSP00000406266:G259A	ENSP00000282516:G259A	G	+	2	0	NIPBL	37007808	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.111000	0.77077	2.577000	0.86979	0.655000	0.94253	GGA	NIPBL	-	NULL		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	G	NM_015384		36972051	1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36972051	G	C	36972051	3	2	193	1	0	0	0	0	1	0	0	0	10452	1174	41	1	802	1	NIPBL	5	36972051	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3356019	36972051	143943209	109	36769										
PTGER4	5734	genome.wustl.edu	37	chr5	40681884	40681884	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgccggagcttccgccgcatCgcgggcgccgagatccagat	14	16	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:40681884C>T	ENST00000302472.3	+	2	1813	c.789C>T	c.(787-789)atC>atT	p.I263I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	263					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCCGCCGCATCGCGGGCGCCG	0.721																																																	0													18	21	20					5																	40681884		2104	4036	6140	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.789C>T	5.37:g.40681884C>T			Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.I263	ENST00000302472.3	37	c.789	CCDS3930.1	5																																																																																			PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.721	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681884	1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	0.845	T	T	40681884	C	T	40681884	2	4	193	1	0	0	0	0	0	0	0	1	12773	874	31	1		1	PTGER4	5	40681884	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3709833	40681884	140233376	110	36770										
HEATR7B2	133558	genome.wustl.edu	37	chr5	40998766	40998766	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acatattggctggtcaaattGagaacaacggcatctaaagt	9	7	2	1	rs373077636		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:40998766G>A	ENST00000399564.4	-	41	5049	c.4599C>T	c.(4597-4599)ctC>ctT	p.L1533L	MROH2B_ENST00000506092.2_Silent_p.L1088L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1533																	TGGTCAAATTGAGAACAACGG	0.408																																																	0													82	83	82					5																	40998766		1868	4097	5965	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4599C>T	5.37:g.40998766G>A			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.L1533	ENST00000399564.4	37	c.4599	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		40998766	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	silent	SNP	0.996	A	A	40998766	G	A	40998766	2	1	193	1	0	0	0	0	0	0	0	1	7055	1277	45	1		1	HEATR7B2	5	40998766	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	316882	40998766	139916494	111	36771										
MAST4	375449	genome.wustl.edu	37	chr5	65892659	65892659	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggagcccggcggcttctccaGagagcatcagccgccgccgc	14	17	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:65892659G>C	ENST00000403625.2	+	1	471	c.176G>C	c.(175-177)aGa>aCa	p.R59T	MAST4_ENST00000406374.1_Missense_Mutation_p.R59T|MAST4_ENST00000404260.3_Missense_Mutation_p.R59T|MAST4_ENST00000406039.1_Missense_Mutation_p.R59T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	59						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGCTTCTCCAGAGAGCATCAG	0.746																																																	0													1	2	2					5																	65892659		1064	2717	3781	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.176G>C	5.37:g.65892659G>C	ENSP00000385727:p.Arg59Thr		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.R59T	ENST00000403625.2	37	c.176	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387916	0.25031	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039	T;T;T;T	0.62941	-0.01;-0.01;1.47;1.48	3.84	3.84	0.44239	.	0.941000	0.08577	U	0.925166	T	0.45236	0.1332	N	0.14661	0.345	0.09310	N	1	B;B	0.33238	0.403;0.275	B;B	0.30029	0.11;0.11	T	0.22208	-1.0223	10	0.27082	T	0.32	.	12.7508	0.57308	0.0:0.0:1.0:0.0	.	59;59	E7EX28;O15021-4	.;.	T	59	ENSP00000385048:R59T;ENSP00000385727:R59T;ENSP00000385088:R59T;ENSP00000384547:R59T	ENSP00000385727:R59T	R	+	2	0	MAST4	65928415	0.558000	0.26554	0.306000	0.25113	0.378000	0.30076	2.519000	0.45546	1.971000	0.57363	0.313000	0.20887	AGA	MAST4	-	NULL		0.746	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			65892659	1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	0.219	C	C	65892659	G	C	65892659	3	2	193	1	0	0	0	0	1	0	0	0	9350	942	33	1	178	1	MAST4	5	65892659	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	24893893	65892659	115022601	112	36772										
CMYA5	202333	genome.wustl.edu	37	chr5	79029018	79029018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgggttgccagtaatcaaaaCatcatcttctcagcattcag	7	10	5	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:79029018C>T	ENST00000446378.2	+	2	4461	c.4430C>T	c.(4429-4431)aCa>aTa	p.T1477I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1477					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTAATCAAAACATCATCTTCT	0.378																																																	0													85	82	83					5																	79029018		1859	4096	5955	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4430C>T	5.37:g.79029018C>T	ENSP00000394770:p.Thr1477Ile		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.T1477I	ENST00000446378.2	37	c.4430	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	1.001	-0.690799	0.03303	.	.	ENSG00000164309	ENST00000446378	T	0.03745	3.82	4.45	2.47	0.30058	.	1.045040	0.07634	N	0.929184	T	0.03477	0.0100	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.44081	-0.9351	10	0.87932	D	0	.	4.2564	0.10719	0.0:0.5848:0.0:0.4152	.	1477	Q8N3K9	CMYA5_HUMAN	I	1477	ENSP00000394770:T1477I	ENSP00000394770:T1477I	T	+	2	0	CMYA5	79064774	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.022000	0.13511	0.663000	0.31027	0.650000	0.86243	ACA	CMYA5	-	NULL		0.378	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79029018	1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.001	T	T	79029018	C	T	79029018	3	4	193	1	0	0	0	0	1	0	0	0	3595	478	17	4	4436	4	CMYA5	5	79029018	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	13136359	79029018	101886242	113	36773										
ATP6AP1L	92270	genome.wustl.edu	37	chr5	81614027	81614027	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acttctcgcagctgaaagctCgagacacagccgaagagaag	11	11	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:81614027C>T	ENST00000380167.4	+	10	1908	c.583C>T	c.(583-585)Cga>Tga	p.R195*	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Nonsense_Mutation_p.R195*			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	195					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						GCTGAAAGCTCGAGACACAGC	0.522																																																	0													57	63	61					5																	81614027		2203	4300	6503	SO:0001587	stop_gained	92270			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.583C>T	5.37:g.81614027C>T	ENSP00000369513:p.Arg195*			Nonsense_Mutation	SNP	NULL	p.R195*	ENST00000380167.4	37	c.583	CCDS34196.1	5	.	.	.	.	.	.	.	.	.	.	C	43	10.075304	0.99331	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.54	-1.07	0.09968	.	1.118370	0.06827	N	0.793225	.	.	.	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	0.1816	0.00124	0.2624:0.2772:0.1925:0.268	.	.	.	.	X	195	.	ENSP00000369513:R195X	R	+	1	2	ATP6AP1L	81649783	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.939000	0.03933	-0.248000	0.09583	-0.251000	0.11542	CGA	ATP6AP1L	-	NULL		0.522	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1L	HGNC	protein_coding	OTTHUMT00000369562.3	C	NM_001017971		81614027	1	no_errors	ENST00000380167	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	81614027	C	T	81614027	4	4	193	1	0	0	0	0	0	1	0	0	1167	876	31	1	597	1	ATP6AP1L	5	81614027	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2585009	81614027	99301233	114	36774										
ELL2	22936	genome.wustl.edu	37	chr5	95255153	95255153	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaatgtttgctggatgcagtCaaagctgccctgagggttgt	14	7	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:95255153C>G	ENST00000237853.4	-	3	641	c.292G>C	c.(292-294)Gac>Cac	p.D98H	ELL2_ENST00000431061.2_Missense_Mutation_p.D98H|ELL2_ENST00000506628.1_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	98					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGATGCAGTCAAAGCTGCCC	0.348																																																	0													89	96	94					5																	95255153		2203	4300	6503	SO:0001583	missense	22936			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.292G>C	5.37:g.95255153C>G	ENSP00000237853:p.Asp98His		B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.D98H	ENST00000237853.4	37	c.292	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772788	0.90108	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T;T	0.36699	1.24;1.24	5.89	5.89	0.94794	.	0.043727	0.85682	D	0.000000	T	0.67031	0.2850	M	0.85041	2.73	0.40824	D	0.98353	D	0.89917	1.0	D	0.77004	0.989	T	0.71484	-0.4579	10	0.87932	D	0	-4.8336	19.8527	0.96746	0.0:1.0:0.0:0.0	.	98	O00472	ELL2_HUMAN	H	98	ENSP00000237853:D98H;ENSP00000399704:D98H	ENSP00000237853:D98H	D	-	1	0	ELL2	95280909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.334000	0.79224	2.783000	0.95769	0.655000	0.94253	GAC	ELL2	-	pfam_RNA_pol_II_elong_fac_ELL		0.348	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	C	NM_012081		95255153	-1	no_errors	ENST00000237853	ensembl	human	known	70_37	missense	SNP	1.000	G	G	95255153	C	G	95255153	3	3	193	1	0	0	0	0	1	0	0	0	5075	826	29	1	1670	1	ELL2	5	95255153	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	13641126	95255153	85660107	115	36775										
TRPC7	57113	genome.wustl.edu	37	chr5	135567044	135567044	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcagtgacctggccttacctCaatttcctgataggagttgt	9	10	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:135567044C>G	ENST00000513104.1	-	8	2320	c.2038G>C	c.(2038-2040)Gag>Cag	p.E680Q	TRPC7_ENST00000355180.3_Missense_Mutation_p.E619Q|TRPC7_ENST00000426057.2_Missense_Mutation_p.E564Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	680					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCCTTACCTCAATTTCCTGA	0.418																																																	0													122	112	115					5																	135567044		1942	4157	6099	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2038G>C	5.37:g.135567044C>G	ENSP00000426070:p.Glu680Gln		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.E680Q	ENST00000513104.1	37	c.2038	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.661786|4.661786	0.88154|0.88154	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.83837|.	-1.77;-1.77;-1.77|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.68348|.	0.2991|.	L|L	0.43554|0.43554	1.36|1.36	0.54753|0.54753	D|D	0.999987|0.999987	B;P;P;P|.	0.46952|.	0.222;0.863;0.887;0.784|.	B;P;P;P|.	0.55222|.	0.168;0.771;0.574;0.54|.	T|.	0.62671|.	-0.6805|.	10|.	0.56958|.	D|.	0.05|.	-25.5103|-25.5103	19.4372|19.4372	0.94801|0.94801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	564;619;625;680|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	Q|S	619;564;680;680|563;618;624	ENSP00000347312:E619Q;ENSP00000441628:E564Q;ENSP00000426070:E680Q|.	ENSP00000265193:E680Q|.	E|X	-|-	1|2	0|2	TRPC7|TRPC7	135594943|135594943	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.959000|0.959000	0.62525|0.62525	7.609000|7.609000	0.82925|0.82925	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAG|TGA	TRPC7	-	prints_TRPC_channel,tigrfam_TRP_channel		0.418	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	C	NM_020389		135567044	-1	no_errors	ENST00000513104	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135567044	C	G	135567044	3	3	193	1	0	0	0	0	1	0	0	0	16615	835	29	1	570	1	TRPC7	5	135567044	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	40311891	135567044	45348216	116	36776										
PCDHB12	56124	genome.wustl.edu	37	chr5	140589396	140589396	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgacattactttaacagcacCtttggattttgaagcaattg	7	7	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:140589396C>G	ENST00000239450.2	+	1	1106	c.917C>G	c.(916-918)cCt>cGt	p.P306R	PCDHB12_ENST00000541609.1_5'UTR	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAACAGCACCTTTGGATTTT	0.373																																																	0													66	70	69					5																	140589396		2203	4300	6503	SO:0001583	missense	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.917C>G	5.37:g.140589396C>G	ENSP00000239450:p.Pro306Arg		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P306R	ENST00000239450.2	37	c.917	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.416279	0.01136	.	.	ENSG00000120328	ENST00000239450	T	0.01705	4.68	4.06	-1.91	0.07641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01905	0.0060	L	0.49455	1.56	0.09310	N	0.999998	B	0.23990	0.095	B	0.33121	0.158	T	0.49428	-0.8941	9	0.21014	T	0.42	.	0.965	0.01403	0.4541:0.2067:0.1162:0.2229	.	306	Q9Y5F1	PCDBC_HUMAN	R	306	ENSP00000239450:P306R	ENSP00000239450:P306R	P	+	2	0	PCDHB12	140569580	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-1.977000	0.01495	-0.075000	0.12798	0.491000	0.48974	CCT	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.373	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	C	NM_018932		140589396	1	no_errors	ENST00000239450	ensembl	human	known	70_37	missense	SNP	0.000	G	G	140589396	C	G	140589396	3	3	193	1	0	0	0	0	1	0	0	0	11561	681	24	4	919	4	PCDHB12	5	140589396	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	5022352	140589396	40325864	117	36777										
PCDHGC4	56098	genome.wustl.edu	37	chr5	140865903	140865903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaacggagatgtgagcctccGcattcctgaccacttgccat	9	13	0	3	rs534793835	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:140865903G>A	ENST00000306593.1	+	1	1163	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	388	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCCTCCGCATTCCTGAC	0.557													G|||	3	0.000599042	0.0023	0	5008	,	,		19248	0		0	False		,,,				2504	0																0													118	96	103					5																	140865903		2203	4300	6503	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1163G>A	5.37:g.140865903G>A	ENSP00000306918:p.Arg388His		Q495T2|Q9Y5C3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R388H	ENST00000306593.1	37	c.1163	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135819	0.21123	.	.	ENSG00000242419	ENST00000306593	T	0.01787	4.64	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01730	0.0055	L	0.28344	0.845	0.30795	N	0.740499	B;B	0.24317	0.101;0.025	B;B	0.25140	0.057;0.058	T	0.20306	-1.0279	9	0.41790	T	0.15	.	6.3766	0.21511	0.2177:0.0:0.7823:0.0	.	388;388	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	H	388	ENSP00000306918:R388H	ENSP00000306918:R388H	R	+	2	0	PCDHGC4	140846087	0.002000	0.14202	0.983000	0.44433	0.680000	0.39746	1.512000	0.35812	2.597000	0.87782	0.563000	0.77884	CGC	PCDHGC4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.557	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	G	NM_018928		140865903	1	no_errors	ENST00000306593	ensembl	human	known	70_37	missense	SNP	0.997	A	A	140865903	G	A	140865903	3	1	193	1	0	0	0	0	1	0	0	0	11594	1087	38	2	1165	2	PCDHGC4	5	140865903	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	276507	140865903	40049357	118	36778										
KIF4B	285643	genome.wustl.edu	37	chr5	154393825	154393825	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agagtgactttgaatttactCtgaaagtgtcttacttagag	9	5	2	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:154393825C>T	ENST00000435029.4	+	1	566	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	136	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAATTTACTCTGAAAGTGTC	0.373																																																	0													91	97	95					5																	154393825		2203	4300	6503	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.406C>T	5.37:g.154393825C>T				Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L136	ENST00000435029.4	37	c.406	CCDS47324.1	5																																																																																			KIF4B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.373	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	C			154393825	1	no_errors	ENST00000435029	ensembl	human	known	70_37	silent	SNP	0.362	T	T	154393825	C	T	154393825	2	4	193	1	0	0	0	0	0	0	0	1	8324	912	32	1		1	KIF4B	5	154393825	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	13527922	154393825	26521435	119	36779										
GABRA1	2554	genome.wustl.edu	37	chr5	161277835	161277835	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgatgaggaaaagtccaggtCtgtctgactgtctttgggcc	13	9	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:161277835C>T	ENST00000428797.2	+	3	374	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GABRA1_ENST00000444819.1_Silent_p.L7L|GABRA1_ENST00000437025.2_Silent_p.L7L|GABRA1_ENST00000023897.6_Silent_p.L7L|GABRA1_ENST00000420560.1_Silent_p.L7L|GABRA1_ENST00000393943.4_Silent_p.L7L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	7					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAGTCCAGGTCTGTCTGACTG	0.448																																																	0													111	107	108					5																	161277835		2203	4300	6503	SO:0001819	synonymous_variant	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.19C>T	5.37:g.161277835C>T			D3DQK6|Q8N629	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L7	ENST00000428797.2	37	c.19	CCDS4357.1	5																																																																																			GABRA1	-	prints_GABBAa1_rcpt		0.448	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	C	NM_000806.5		161277835	1	no_errors	ENST00000023897	ensembl	human	known	70_37	silent	SNP	0.600	T	T	161277835	C	T	161277835	2	4	193	1	0	0	0	0	0	0	0	1	6178	912	32	1		1	GABRA1	5	161277835	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	6884010	161277835	19637425	120	36780										
PROP1	5626	genome.wustl.edu	37	chr5	177419783	177419783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gggggcagggcagatggccgGcaggggctgggtgcaaggta	23	7	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:177419783G>A	ENST00000308304.2	-	3	916	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	203					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGATGGCCGGCAGGGGCTGG	0.627																																																	0													36	35	36					5																	177419783		2203	4296	6499	SO:0001583	missense	5626			AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.608C>T	5.37:g.177419783G>A	ENSP00000311290:p.Ala203Val			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.A203V	ENST00000308304.2	37	c.608	CCDS4430.1	5	.	.	.	.	.	.	.	.	.	.	.	7.457	0.643873	0.14451	.	.	ENSG00000175325	ENST00000308304	D	0.89617	-2.54	2.22	2.22	0.28083	.	1.086480	0.07320	N	0.877343	T	0.79540	0.4463	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.63310	-0.6666	10	0.12103	T	0.63	1.099	8.008	0.30336	0.0:0.0:1.0:0.0	.	203	O75360	PROP1_HUMAN	V	203	ENSP00000311290:A203V	ENSP00000311290:A203V	A	-	2	0	PROP1	177352389	0.068000	0.21057	0.032000	0.17829	0.004000	0.04260	1.391000	0.34475	1.576000	0.49790	0.563000	0.77884	GCC	PROP1	-	NULL		0.627	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROP1	HGNC	protein_coding	OTTHUMT00000253472.1	G	NM_006261		177419783	-1	no_errors	ENST00000308304	ensembl	human	known	70_37	missense	SNP	0.000	A	A	177419783	G	A	177419783	3	1	193	1	0	0	0	0	1	0	0	0	12584	1203	42	4	76	4	PROP1	5	177419783	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	16141948	177419783	3495477	121	36781										
MAPK9	5601	genome.wustl.edu	37	chr5	179688761	179688761	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaggtaggacattctttcatGatccagctccatgtgaataa	8	8	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:179688761G>A	ENST00000452135.2	-	5	671	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	MAPK9_ENST00000539014.1_Missense_Mutation_p.H125Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.H125Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.H125Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.H125Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.H125Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.H125Y|MAPK9_ENST00000524170.1_5'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTCTTTCATGATCCAGCTCC	0.338																																																	0													149	155	153					5																	179688761		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.373C>T	5.37:g.179688761G>A	ENSP00000394560:p.His125Tyr		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.H125Y	ENST00000452135.2	37	c.373	CCDS4453.1	5	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768728	0.90020	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	N	0.16833	0.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.993	D	0.88085	0.2809	10	0.72032	D	0.01	-25.0825	18.8282	0.92127	0.0:0.0:1.0:0.0	.	125;125;125;125;125	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	125	ENSP00000394560:H125Y;ENSP00000377028:H125Y;ENSP00000389338:H125Y;ENSP00000345524:H125Y;ENSP00000321410:H125Y;ENSP00000397422:H125Y;ENSP00000443149:H125Y	ENSP00000345524:H125Y	H	-	1	0	MAPK9	179621367	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.731000	0.98807	2.441000	0.82636	0.462000	0.41574	CAT	MAPK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK		0.338	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3	G			179688761	-1	no_errors	ENST00000452135	ensembl	human	known	70_37	missense	SNP	1.000	A	A	179688761	G	A	179688761	3	1	193	1	0	0	0	0	1	0	0	0	9310	1290	45	1	1055	1	MAPK9	5	179688761	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2268978	179688761	1226499	122	36782										
WRNIP1	56897	genome.wustl.edu	37	chr6	2779572	2779572	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggtgacgcccgagctgggttGaacggactgcagctggcggt	18	10	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:2779572G>A	ENST00000380773.4	+	4	1541	c.1332G>A	c.(1330-1332)ttG>ttA	p.L444L	WRNIP1_ENST00000380769.4_Silent_p.L224L|WRNIP1_ENST00000380771.4_Silent_p.L419L|WRNIP1_ENST00000380764.1_Silent_p.L60L	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GAGCTGGGTTGAACGGACTGC	0.522																																																	0													110	99	103					6																	2779572		2203	4300	6503	SO:0001819	synonymous_variant	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1332G>A	6.37:g.2779572G>A				Silent	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.L444	ENST00000380773.4	37	c.1332	CCDS4475.1	6																																																																																			WRNIP1	-	NULL		0.522	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	G	NM_130395		2779572	1	no_errors	ENST00000380773	ensembl	human	known	70_37	silent	SNP	0.994	A	A	2779572	G	A	2779572	2	1	193	1	0	0	0	0	0	0	0	1	17434	1281	45	1		1	WRNIP1	6	2779572	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		2779572	168335495	123	36783										
PRL	5617	genome.wustl.edu	37	chr6	22294655	22294655	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tacgaattcgctgaacatttCtgaggagaggttatggatgt	12	5	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:22294655C>G	ENST00000306482.1	-	2	705	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	63					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTGAACATTTCTGAGGAGAGG	0.552																																																	0													104	95	98					6																	22294655		2203	4300	6503	SO:0001583	missense	5617			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.187G>C	6.37:g.22294655C>G	ENSP00000302150:p.Glu63Gln		Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.E63Q	ENST00000306482.1	37	c.187	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697051	0.48202	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.89415	-2.51	6.04	5.18	0.71444	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.463208	0.27759	N	0.017970	D	0.86736	0.6004	L	0.53780	1.695	0.43230	D	0.995129	B;P	0.42584	0.24;0.784	B;P	0.48270	0.213;0.572	D	0.87518	0.2444	10	0.51188	T	0.08	-8.3497	15.3229	0.74135	0.0:0.9334:0.0:0.0666	.	63;64	P01236;Q5I0G2	PRL_HUMAN;.	Q	63;32	ENSP00000302150:E63Q	ENSP00000302150:E63Q	E	-	1	0	PRL	22402634	1.000000	0.71417	0.629000	0.29254	0.907000	0.53573	5.359000	0.66074	1.573000	0.49748	0.563000	0.77884	GAA	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core		0.552	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	C	NM_000948		22294655	-1	no_errors	ENST00000306482	ensembl	human	known	70_37	missense	SNP	0.992	G	G	22294655	C	G	22294655	3	3	193	1	0	0	0	0	1	0	0	0	12555	922	32	1	512	1	PRL	6	22294655	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	19515083	22294655	148820412	124	36784										
HIST1H4F	8361	genome.wustl.edu	37	chr6	26240851	26240851	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaggtgttcctggagaatgtGatacgggacgccgtaaccta	13	8	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:26240851G>C	ENST00000377745.2	+	1	291	c.198G>C	c.(196-198)gtG>gtC	p.V66V		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGGAGAATGTGATACGGGACG	0.592																																																	0													90	77	81					6																	26240851		2203	4300	6503	SO:0001819	synonymous_variant	8361			M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"Histones / Replication-dependent"	4783	protein-coding gene	gene with protein product		602824	"H4 histone family, member C", "histone 1, H4f"	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.198G>C	6.37:g.26240851G>C			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V66	ENST00000377745.2	37	c.198	CCDS4598.1	6																																																																																			HIST1H4F	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.592	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4F	HGNC	protein_coding	OTTHUMT00000040106.1	G	NM_003540		26240851	1	no_errors	ENST00000377745	ensembl	human	known	70_37	silent	SNP	0.991	C	C	26240851	G	C	26240851	2	2	193	1	0	0	0	0	0	0	0	1	7190	1277	45	1		1	HIST1H4F	6	26240851	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3946196	26240851	144874216	125	36785										
SCAND3	114821	genome.wustl.edu	37	chr6	28540339	28540339	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttaagatcattaaaaatactGaagatatcagacaaataagc	5	5	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:28540339G>A	ENST00000452236.2	-	4	3944	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						taaaaatactgaagatatcag	0.353																																																	0													59	61	61					6																	28540339		2197	4295	6492	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.3327C>T	6.37:g.28540339G>A				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.F1109	ENST00000452236.2	37	c.3327	CCDS34355.1	6																																																																																			SCAND3	-	superfamily_RNaseH-like_dom		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	G			28540339	-1	no_errors	ENST00000452236	ensembl	human	known	70_37	silent	SNP	0.999	A	A	28540339	G	A	28540339	2	1	193	1	0	0	0	0	0	0	0	1	13906	1281	45	1		1	SCAND3	6	28540339	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2299488	28540339	142574728	126	36786										
DPCR1	135656	genome.wustl.edu	37	chr6	30920820	30920820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atgatgcagaggatgagggtGgccccaattcctacccggtc	13	11	0	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:30920820G>A	ENST00000462446.1	+	3	4136	c.4108G>A	c.(4108-4110)Ggc>Agc	p.G1370S	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.G212S			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	494						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GGATGAGGGTGGCCCCAATTC	0.567																																																	0													160	114	130					6																	30920820		2203	4300	6503	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.4108G>A	6.37:g.30920820G>A	ENSP00000417182:p.Gly1370Ser		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.G212S	ENST00000462446.1	37	c.634	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733783	0.69189	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.35421	1.31;1.42	3.82	1.95	0.26073	.	.	.	.	.	T	0.24392	0.0591	L	0.41824	1.3	0.21064	N	0.999794	D	0.60160	0.987	D	0.63488	0.915	T	0.07462	-1.0771	9	0.23302	T	0.38	-6.0604	6.8106	0.23802	0.2285:0.0:0.7715:0.0	.	1370	E9PEI6	.	S	1370;494;212	ENSP00000417182:G1370S;ENSP00000305948:G212S	ENSP00000305948:G212S	G	+	1	0	DPCR1	31028799	0.186000	0.23225	0.517000	0.27799	0.914000	0.54420	0.787000	0.26858	0.355000	0.24131	0.574000	0.79327	GGC	DPCR1	-	NULL		0.567	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	G	NM_080870		30920820	1	no_errors	ENST00000304311	ensembl	human	known	70_37	missense	SNP	0.569	A	A	30920820	G	A	30920820	3	1	193	1	0	0	0	0	1	0	0	0	4722	1348	47	4	4118	4	DPCR1	6	30920820	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2380481	30920820	140194247	127	36787										
TCF19	6941	genome.wustl.edu	37	chr6	31129531	31129531	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctaaactccataggcagcctCagcaagctccggccccagcc	8	18	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:31129531C>T	ENST00000376257.3	+	3	1300	c.546C>T	c.(544-546)ctC>ctT	p.L182L	TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Silent_p.L182L	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	182					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L182L(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAGGCAGCCTCAGCAAGCTCC	0.657																																																	1	Substitution - coding silent(1)	lung(1)											40	49	46					6																	31129531		1277	2542	3819	SO:0001819	synonymous_variant	6941			U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.546C>T	6.37:g.31129531C>T			A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Silent	SNP	pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom	p.L182	ENST00000376257.3	37	c.546	CCDS43446.1	6																																																																																			TCF19	-	NULL		0.657	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF19	HGNC	protein_coding	OTTHUMT00000076595.2	C	NM_007109		31129531	1	no_errors	ENST00000376255	ensembl	human	known	70_37	silent	SNP	1.000	T	T	31129531	C	T	31129531	2	4	193	1	0	0	0	0	0	0	0	1	15719	813	29	1		1	TCF19	6	31129531	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	208711	31129531	139985536	128	36788										
MICB	4277	genome.wustl.edu	37	chr6	31474941	31474941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttgagccacaacacccagcaGtggggggatgtcctgcctga	13	12	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:31474941G>A	ENST00000252229.6	+	4	835	c.756G>A	c.(754-756)caG>caA	p.Q252Q	MICB_ENST00000538442.1_Silent_p.Q220Q|MICB_ENST00000399150.3_Silent_p.Q209Q	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACACCCAGCAGTGGGGGGATG	0.572																																																	0													52	57	55					6																	31474941		1362	2609	3971	SO:0001819	synonymous_variant	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.756G>A	6.37:g.31474941G>A				Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.Q252	ENST00000252229.6	37	c.756	CCDS43449.1	6																																																																																			MICB	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.572	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICB	HGNC	protein_coding	OTTHUMT00000076102.3	G	NM_005931		31474941	1	no_errors	ENST00000252229	ensembl	human	known	70_37	silent	SNP	0.000	A	A	31474941	G	A	31474941	2	1	193	1	0	0	0	0	0	0	0	1	9598	1020	36	4		4	MICB	6	31474941	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	345410	31474941	139640126	129	36789										
HSPA1L	3305	genome.wustl.edu	37	chr6	31778159	31778159	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tttctccctctggacctcatCttcagctttatatttctcag	4	13	6	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:31778159C>G	ENST00000375654.4	-	2	1780	c.1591G>C	c.(1591-1593)Gat>Cat	p.D531H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.D531H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	531					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGGACCTCATCTTCAGCTTTA	0.458																																																	0													163	165	165					6																	31778159		2203	4300	6503	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1591G>C	6.37:g.31778159C>G	ENSP00000364805:p.Asp531His		A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D531H	ENST00000375654.4	37	c.1591	CCDS34413.1	6	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388206	0.42308	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.13089	2.62;2.62	5.55	4.69	0.59074	.	0.000000	0.35870	N	0.002936	T	0.56659	0.2000	H	0.99996	5.45	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.78770	-0.2074	10	0.87932	D	0	-18.2322	12.1878	0.54250	0.0:0.9185:0.0:0.0815	.	531	P34931	HS71L_HUMAN	H	531;531;476	ENSP00000364805:D531H;ENSP00000387691:D531H	ENSP00000364804:D476H	D	-	1	0	HSPA1L	31886138	1.000000	0.71417	0.277000	0.24703	0.540000	0.34992	5.899000	0.69846	1.595000	0.50050	-0.229000	0.12294	GAT	HSPA1L	-	pfam_Hsp_70_fam		0.458	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	C			31778159	-1	no_errors	ENST00000375654	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31778159	C	G	31778159	3	3	193	1	0	0	0	0	1	0	0	0	7430	913	32	1	338	1	HSPA1L	6	31778159	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	303218	31778159	139336908	130	36790										
FKBPL	63943	genome.wustl.edu	37	chr6	32096939	32096940	+	Nonsense_Mutation	DNP	CC	CC	AT													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttcttccctggccagggcttCcttctcgctagtctccagct							TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:32096939_32096940CC>AT	ENST00000375156.3	-	2	888_889	c.618_619GG>AT	c.(616-621)aaGGaa>aaATaa	p.E207*	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	207					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										GCCAGGGCTTCCTTCTCGCTAG	0.604																																																	0																																										SO:0001587	stop_gained	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.618_619delinsAT	6.37:g.32096939_32096940delinsAT	ENSP00000364298:p.Glu207*		A8K5V3|B0UYX8|Q9H5G3	Nonsense_Mutation|Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E207*|p.K206	ENST00000375156.3	37	c.619|c.618	CCDS4738.1	6																																																																																			FKBPL	-	NULL		0.604	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	C			32096939|32096940	-1	no_errors	ENST00000375156	ensembl	human	known	70_37	nonsense|silent	SNP	1.000	A|T	AT	32096940	CC	AT	32096939	4	1	193	1	0	0	0	0	0	1	0	0	5934	864	30	3	434	3	FKBPL	6	32096939	Nonsense_Mutation	DNP	CC	TCGA-UC-A7PF-01A-11D-A351-09	318780	32096939	139018128	131	36791										
FKBPL	63943	genome.wustl.edu	37	chr6	32097143	32097143	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agttagctctgtccagccctCtggcggccctgatccgaaag	11	14	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:32097143C>T	ENST00000375156.3	-	2	685	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	139					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										GTCCAGCCCTCTGGCGGCCCT	0.562																																																	0													172	192	185					6																	32097143		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.415G>A	6.37:g.32097143C>T	ENSP00000364298:p.Glu139Lys		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E139K	ENST00000375156.3	37	c.415	CCDS4738.1	6	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751534	0.49257	.	.	ENSG00000204315	ENST00000375156	T	0.81247	-1.47	5.23	4.35	0.52113	.	0.407546	0.22055	N	0.065257	T	0.49321	0.1550	N	0.24115	0.695	0.32590	N	0.527294	B	0.25312	0.123	B	0.22880	0.042	T	0.43130	-0.9410	10	0.40728	T	0.16	-15.0424	7.0876	0.25266	0.0:0.735:0.1755:0.0895	.	139	Q9UIM3	FKBPL_HUMAN	K	139	ENSP00000364298:E139K	ENSP00000364298:E139K	E	-	1	0	FKBPL	32205121	0.446000	0.25665	0.999000	0.59377	0.985000	0.73830	1.152000	0.31663	1.410000	0.46936	0.462000	0.41574	GAG	FKBPL	-	NULL		0.562	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	C			32097143	-1	no_errors	ENST00000375156	ensembl	human	known	70_37	missense	SNP	0.999	T	T	32097143	C	T	32097143	3	4	193	1	0	0	0	0	1	0	0	0	5934	922	32	1	638	1	FKBPL	6	32097143	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	204	32097143	139017924	132	36792										
HLA-DMB	3109	genome.wustl.edu	37	chr6	32906570	32906570	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttttggttgaggtgctgtgaGaggacattcgccaagctatt	13	6	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:32906570G>C	ENST00000418107.2	-	2	490	c.228C>G	c.(226-228)ctC>ctG	p.L76L	HLA-DMB_ENST00000416244.2_Silent_p.L76L|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.L108L|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	76	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGTGCTGTGAGAGGACATTCG	0.537																																																	0													125	126	126					6																	32906570		1511	2709	4220	SO:0001819	synonymous_variant	3109				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.228C>G	6.37:g.32906570G>C			O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.L76	ENST00000418107.2	37	c.228	CCDS4760.1	6																																																																																			HLA-DMB	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.537	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	G	NM_002118		32906570	-1	no_errors	ENST00000418107	ensembl	human	known	70_37	silent	SNP	0.000	C	C	32906570	G	C	32906570	2	2	193	1	0	0	0	0	0	0	0	1	7219	929	33	1		1	HLA-DMB	6	32906570	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	809427	32906570	138208497	133	36793										
HLA-DMB	3109	genome.wustl.edu	37	chr6	32906678	32906678	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttgaaggagatgcagtatgtGaaatcctttggagtcccagc	12	7	0	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:32906678G>A	ENST00000418107.2	-	2	382	c.120C>T	c.(118-120)ttC>ttT	p.F40F	HLA-DMB_ENST00000416244.2_Silent_p.F40F|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.F72F|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	40	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TGCAGTATGTGAAATCCTTTG	0.527																																																	0													117	128	124					6																	32906678		1509	2709	4218	SO:0001819	synonymous_variant	3109				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.120C>T	6.37:g.32906678G>A			O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.F40	ENST00000418107.2	37	c.120	CCDS4760.1	6																																																																																			HLA-DMB	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.527	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	G	NM_002118		32906678	-1	no_errors	ENST00000418107	ensembl	human	known	70_37	silent	SNP	0.515	A	A	32906678	G	A	32906678	2	1	193	1	0	0	0	0	0	0	0	1	7219	1281	45	1		1	HLA-DMB	6	32906678	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	108	32906678	138208389	134	36794										
HLA-DPB1	3115	genome.wustl.edu	37	chr6	33048688	33048689	+	Frame_Shift_Ins	INS	-	-	A													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acacaactacgagctgggcgINSggcccatgaccctgcagcgc					rs141530233|rs534577141	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:33048688_33048689insA	ENST00000418931.2	+	2	456_457	c.340_341insA	c.(340-342)gggfs	p.G114fs	HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Frame_Shift_Ins_p.G114fs|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	114	Beta-1.		G -> E (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01; dbSNP:rs9277354). {ECO:0000269|PubMed:6330724}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGAGCTGGGCGGGCCCATGACC	0.708																																																	0										2094,2108		551,992,558						-3.9	0		dbSNP_134	20	2192,6010		354,1484,2263	no	frameshift	HLA-DPB1	NM_002121.5		905,2476,2821	A1A1,A1R,RR		26.7252,49.8334,34.5534				4286,8118				SO:0001589	frameshift_variant	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	Exception_encountered	6.37:g.33048688_33048689insA	ENSP00000408146:p.Gly114fs		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Frame_Shift_Ins	INS	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.G114fs	ENST00000418931.2	37	c.340_341	CCDS4765.1	6																																																																																			HLA-DPB1	-	superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.708	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076106.2	-	NM_002121		33048689	1	no_errors	ENST00000418931	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	A	A	33048689	-	A	33048688	7	5	193	1	0	1	1	0	0	0	0	0	7223	1116	39	0	346	0	HLA-DPB1	6	33048688	Frame_Shift_Ins	INS	-	TCGA-UC-A7PF-01A-11D-A351-09	142010	33048688	138066379	135	36795										
ITPR3	3710	genome.wustl.edu	37	chr6	33655086	33655086	+	Silent	SNP	C	C	T													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgtgaagtgggccataacatCtatatcctggcgctgcaggt					rs368723045		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:33655086C>T	ENST00000374316.5	+	46	7219	c.6159C>T	c.(6157-6159)atC>atT	p.I2053I	ITPR3_ENST00000605930.1_Silent_p.I2053I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2053					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCCATAACATCTATATCCTGG	0.627																																																	0								C		0,4406		0,0,2203	62	52	55		6159	4.7	1	6		55	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ITPR3	NM_002224.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		2053/2672	33655086	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6159C>T	6.37:g.33655086C>T			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.I2053	ENST00000374316.5	37	c.6159	CCDS4783.1	6																																																																																			ITPR3	-	NULL		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	C	NM_002224		33655086	1	no_errors	ENST00000374316	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33655086	C	T	33655086	2	4	193	1	0	0	0	0	0	0	0	1	7942	903	32	1		1	ITPR3	6	33655086	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	606398	33655086	137459981	136	36796	231	2								
ITPR3	3710	genome.wustl.edu	37	chr6	33655092	33655092	+	Silent	SNP	C	C	T													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgggccataacatctatatCctggcgctgcaggtaccagt							TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:33655092C>T	ENST00000374316.5	+	46	7225	c.6165C>T	c.(6163-6165)atC>atT	p.I2055I	ITPR3_ENST00000605930.1_Silent_p.I2055I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2055					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACATCTATATCCTGGCGCTGC	0.622																																																	0													59	50	53					6																	33655092		2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6165C>T	6.37:g.33655092C>T			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.I2055	ENST00000374316.5	37	c.6165	CCDS4783.1	6																																																																																			ITPR3	-	NULL		0.622	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	C	NM_002224		33655092	1	no_errors	ENST00000374316	ensembl	human	known	70_37	silent	SNP	1.000	T	T	33655092	C	T	33655092	2	4	193	1	0	0	0	0	0	0	0	1	7942	845	30	1		1	ITPR3	6	33655092	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	6	33655092	137459975	137	36797	231	2								
KCTD20	222658	genome.wustl.edu	37	chr6	36454677	36454677	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	caggttaccctacctgtaaaGaaaaaattaagagaaggcct	8	8	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:36454677G>C	ENST00000373731.2	+	8	1376	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q	KCTD20_ENST00000536244.1_Missense_Mutation_p.E184Q|KCTD20_ENST00000544295.1_Missense_Mutation_p.E83Q|KCTD20_ENST00000449081.2_Missense_Mutation_p.E163Q|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	329					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TACCTGTAAAGAAAAAATTAA	0.443																																																	0													79	89	86					6																	36454677		2203	4300	6503	SO:0001583	missense	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.985G>C	6.37:g.36454677G>C	ENSP00000362836:p.Glu329Gln		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E329Q	ENST00000373731.2	37	c.985	CCDS4821.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.237052	0.95240	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.84	5.84	0.93424	.	0.060900	0.64402	N	0.000006	D	0.89473	0.6725	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.89448	0.3728	10	0.87932	D	0	-25.1887	20.1551	0.98106	0.0:0.0:1.0:0.0	.	163;329	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	Q	329;83;163;184	ENSP00000362836:E329Q;ENSP00000440150:E83Q;ENSP00000412205:E163Q;ENSP00000439118:E184Q	ENSP00000362836:E329Q	E	+	1	0	KCTD20	36562655	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.760000	0.94817	0.655000	0.94253	GAA	KCTD20	-	NULL		0.443	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD20	HGNC	protein_coding	OTTHUMT00000040345.2	G	NM_173562		36454677	1	no_errors	ENST00000373731	ensembl	human	known	70_37	missense	SNP	1.000	C	C	36454677	G	C	36454677	3	2	193	1	0	0	0	0	1	0	0	0	8128	943	33	1	1011	1	KCTD20	6	36454677	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2799585	36454677	134660390	138	36798										
MOCS1	4337	genome.wustl.edu	37	chr6	39895145	39895145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agctgtctgtgaggaaggcgGagaagggggccgcatgctcc	18	9	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:39895145G>A	ENST00000340692.5	-	2	176	c.173C>T	c.(172-174)tCc>tTc	p.S58F	MOCS1_ENST00000308559.7_Missense_Mutation_p.S58F|MOCS1_ENST00000373186.4_Missense_Mutation_p.S58F|MOCS1_ENST00000373175.4_Missense_Mutation_p.S29F|MOCS1_ENST00000432280.2_Missense_Mutation_p.S29F|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373188.2_Missense_Mutation_p.S58F|MOCS1_ENST00000425303.2_Missense_Mutation_p.S58F			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	58	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGGAAGGCGGAGAAGGGGGC	0.652																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													30	31	31					6																	39895145		2203	4299	6502	SO:0001583	missense	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.173C>T	6.37:g.39895145G>A	ENSP00000344794:p.Ser58Phe		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.S58F	ENST00000340692.5	37	c.173		6	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668156	0.88348	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000340692;ENST00000425303;ENST00000432280	T;T;T	0.34859	1.34;1.35;1.35	5.44	5.44	0.79542	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79784	0.993;0.976;0.987;0.986	T	0.10706	-1.0618	9	.	.	.	-23.7002	19.2062	0.93730	0.0:0.0:1.0:0.0	.	58;58;58;58	Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;MOCS1_HUMAN;.;.	F	58;58;29;58;58;58;29	ENSP00000309843:S58F;ENSP00000344794:S58F;ENSP00000416478:S58F	.	S	-	2	0	MOCS1	40003123	1.000000	0.71417	0.969000	0.41365	0.632000	0.37999	8.594000	0.90836	2.703000	0.92315	0.591000	0.81541	TCC	MOCS1	-	NULL		0.652	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	G	NM_005943		39895145	-1	no_errors	ENST00000340692	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39895145	G	A	39895145	3	1	193	1	0	0	0	0	1	0	0	0	9713	1174	41	1	1020	1	MOCS1	6	39895145	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3440468	39895145	131219922	139	36799										
UBR2	23304	genome.wustl.edu	37	chr6	42646299	42646299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccttgaaagaaataccatccGgctggcatctgtggaggagt	12	9	1	2	rs375384984		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:42646299G>A	ENST00000372899.1	+	41	4759	c.4501G>A	c.(4501-4503)Ggc>Agc	p.G1501S	UBR2_ENST00000372901.1_Missense_Mutation_p.G1501S|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1501					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G1501S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AATACCATCCGGCTGGCATCT	0.393																																																	1	Substitution - Missense(1)	endometrium(1)						G	SER/GLY	0,4406		0,0,2203	149	140	143		4501	5.3	1	6		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBR2	NM_015255.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1501/1756	42646299	1,13005	2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4501G>A	6.37:g.42646299G>A	ENSP00000361990:p.Gly1501Ser		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.G1501S	ENST00000372899.1	37	c.4501	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569304	0.65765	0.0	1.16E-4	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.46819	0.86;0.86	5.26	5.26	0.73747	.	0.101112	0.64402	D	0.000002	T	0.48607	0.1509	M	0.70275	2.135	0.80722	D	1	D;B	0.63880	0.993;0.096	P;B	0.56612	0.802;0.033	T	0.50906	-0.8772	10	0.06757	T	0.87	-14.0327	19.2288	0.93829	0.0:0.0:1.0:0.0	.	1501;1501	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	1501	ENSP00000361990:G1501S;ENSP00000361992:G1501S	ENSP00000361990:G1501S	G	+	1	0	UBR2	42754277	1.000000	0.71417	0.959000	0.39883	0.171000	0.22731	8.335000	0.90031	2.624000	0.88883	0.650000	0.86243	GGC	UBR2	-	NULL		0.393	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42646299	1	no_errors	ENST00000372899	ensembl	human	known	70_37	missense	SNP	1.000	A	A	42646299	G	A	42646299	3	1	193	1	0	0	0	0	1	0	0	0	16933	1116	39	2	4809	2	UBR2	6	42646299	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2751154	42646299	128468768	140	36800										
GSTA5	221357	genome.wustl.edu	37	chr6	52696763	52696763	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggttgctgattctggttttCagggcctgtaatccacaaag	11	8	2	1	rs567319452		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:52696763C>T	ENST00000370989.2	-	6	581	c.552G>A	c.(550-552)ctG>ctA	p.L184L	GSTA5_ENST00000284562.2_Silent_p.L184L|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	184	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCTGGTTTTCAGGGCCTGTA	0.522													C|||	1	0.000199681	0	0	5008	,	,		16984	0.001		0	False		,,,				2504	0																0													92	90	91					6																	52696763		2203	4300	6503	SO:0001819	synonymous_variant	221357			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"Glutathione S-transferases / Soluble"	19662	protein-coding gene	gene with protein product		607605	"glutathione S-transferase A5"			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.552G>A	6.37:g.52696763C>T			Q5SZC2	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.L184	ENST00000370989.2	37	c.552	CCDS4946.1	6																																																																																			GSTA5	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.522	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	HGNC	protein_coding	OTTHUMT00000040917.1	C	NM_153699		52696763	-1	no_errors	ENST00000284562	ensembl	human	known	70_37	silent	SNP	0.462	T	T	52696763	C	T	52696763	2	4	193	1	0	0	0	0	0	0	0	1	6854	813	29	1		1	GSTA5	6	52696763	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	10050464	52696763	118418304	141	36801										
COL12A1	1303	genome.wustl.edu	37	chr6	75912466	75912466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aatggaagacaggagcagggCcgcgcccagggcggcaagcg	18	11	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:75912466C>T	ENST00000322507.8	-	2	352	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	COL12A1_ENST00000345356.6_Missense_Mutation_p.A15T|COL12A1_ENST00000416123.2_Missense_Mutation_p.A15T|COL12A1_ENST00000483888.2_Missense_Mutation_p.A15T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	15					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGGAGCAGGGCCGCGCCCAGG	0.557																																																	0													42	43	43					6																	75912466		1820	3891	5711	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.43G>A	6.37:g.75912466C>T	ENSP00000325146:p.Ala15Thr		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.A15T	ENST00000322507.8	37	c.43	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697009	0.68386	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D	0.87103	-2.2;-2.21;-2.2;-2.18	5.2	4.27	0.50696	.	0.090768	0.46442	D	0.000284	T	0.69205	0.3085	N	0.19112	0.55	0.30098	N	0.807666	B;B	0.30281	0.275;0.18	B;B	0.30179	0.112;0.052	T	0.70092	-0.4967	10	0.62326	D	0.03	.	14.3055	0.66382	0.0:0.8508:0.1492:0.0	.	15;15	Q99715-2;Q99715	.;COCA1_HUMAN	T	15	ENSP00000325146:A15T;ENSP00000305147:A15T;ENSP00000412864:A15T;ENSP00000421216:A15T	ENSP00000325146:A15T	A	-	1	0	COL12A1	75969186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.955000	0.56715	2.427000	0.82271	0.561000	0.74099	GCC	COL12A1	-	NULL		0.557	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	C	NM_004370		75912466	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	T	T	75912466	C	T	75912466	3	4	193	1	0	0	0	0	1	0	0	0	3674	739	26	4	9408	4	COL12A1	6	75912466	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	23215703	75912466	95202601	142	36802										
COX7A2	1347	genome.wustl.edu	37	chr6	75953513	75953513	+	5'UTR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	caacgaaaatggccacgccgGaaccggaactacctccgagt	10	14	0	0	rs531403377		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:75953513G>A	ENST00000230459.4	-	0	131				COX7A2_ENST00000370081.2_Missense_Mutation_p.P12S|COX7A2_ENST00000472311.2_5'Flank|COX7A2_ENST00000509698.1_5'Flank|COX7A2_ENST00000460985.1_5'Flank|COX7A2_ENST00000370089.2_Missense_Mutation_p.P12S	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						GGCCACGCCGGAACCGGAACT	0.517													G|||	1	0.000199681	0	0	5008	,	,		19920	0		0.001	False		,,,				2504	0																0													107	117	114					6																	75953513		692	1591	2283	SO:0001623	5_prime_UTR_variant	1347			X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.-63C>T	6.37:g.75953513G>A			B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	p.P12S	ENST00000230459.4	37	c.34		6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249567	0.80024	.	.	ENSG00000112695	ENST00000370081;ENST00000370089	T;T	0.54675	0.56;0.56	5.66	5.66	0.87406	.	0.207947	0.24363	N	0.039172	T	0.43188	0.1236	N	0.22421	0.69	0.80722	D	1	.	.	.	.	.	.	T	0.50215	-0.8854	8	0.87932	D	0	-5.7758	16.6639	0.85247	0.0:0.0:1.0:0.0	.	.	.	.	S	12	ENSP00000359098:P12S;ENSP00000359106:P12S	ENSP00000359098:P12S	P	-	1	0	COX7A2	76010233	1.000000	0.71417	0.977000	0.42913	0.961000	0.63080	2.508000	0.45450	2.653000	0.90120	0.561000	0.74099	CCG	COX7A2	-	NULL		0.517	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	COX7A2	HGNC	protein_coding		G	NM_001865		75953513	-1	no_errors	ENST00000370081	ensembl	human	known	70_37	missense	SNP	1.000	A	A	75953513	G	A	75953513	1	1	193	0	1	0	0	0	0	0	0	0	3785	1174	41	1		1	COX7A2	6	75953513	5'UTR	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	41047	75953513	95161554	143	36803										
CASP8AP2	9994	genome.wustl.edu	37	chr6	90576285	90576285	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cacaaaatctctaagtcagtGactaccttacagaagaatct	5	10	3	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:90576285G>A	ENST00000551025.1	+	0	4713									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTAAGTCAGTGACTACCTTAC	0.294																																					Colon(187;1656 2025 17045 31481 39901)												0													28	26	27					6																	90576285		1802	4063	5865			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576285G>A				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.294	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90576285	1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.020	A	A	90576285	G	A	90576285	1	1	193	0	1	0	0	0	0	0	0	0	2683	1277	45	1		1	CASP8AP2	6	90576285	RNA	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	14622772	90576285	80538782	144	36804										
CASP8AP2	9994	genome.wustl.edu	37	chr6	90576585	90576585	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aactccaacagagaattgctGaaagaaaaattatcaaaatc	5	7	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:90576585G>A	ENST00000551025.1	+	0	5013									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAGAATTGCTGAAAGAAAAAT	0.333																																					Colon(187;1656 2025 17045 31481 39901)												0													14	14	14					6																	90576585		1798	4059	5857			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576585G>A				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.333	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90576585	1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.020	A	A	90576585	G	A	90576585	1	1	193	0	1	0	0	0	0	0	0	0	2683	1277	45	1		1	CASP8AP2	6	90576585	RNA	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	300	90576585	80538482	145	36805										
KIAA0776	23376	genome.wustl.edu	37	chr6	96996144	96996144	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agtttatttcggaacttgctGagtacttaataaagcaagta	8	5	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:96996144G>C	ENST00000369278.4	+	13	1573	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	503					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										GGAACTTGCTGAGTACTTAAT	0.303																																																	0													55	57	56					6																	96996144		2203	4299	6502	SO:0001583	missense	23376			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1507G>C	6.37:g.96996144G>C	ENSP00000358283:p.Glu503Gln		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	pfam_E3_UFM1_ligase_1	p.E503Q	ENST00000369278.4	37	c.1507	CCDS5034.1	6	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675272	0.47781	.	.	ENSG00000014123	ENST00000369278	T	0.46819	0.86	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.39245	1.2	0.80722	D	1	P	0.36733	0.567	B	0.29267	0.1	T	0.04565	-1.0942	10	0.25106	T	0.35	-27.366	17.7128	0.88326	0.0:0.0:1.0:0.0	.	503	O94874	UFL1_HUMAN	Q	503	ENSP00000358283:E503Q	ENSP00000358283:E503Q	E	+	1	0	KIAA0776	97102865	1.000000	0.71417	0.859000	0.33776	0.907000	0.53573	5.604000	0.67626	2.861000	0.98227	0.655000	0.94253	GAG	UFL1	-	NULL		0.303	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	G	NM_015323		96996144	1	no_errors	ENST00000369278	ensembl	human	known	70_37	missense	SNP	0.997	C	C	96996144	G	C	96996144	3	2	193	1	0	0	0	0	1	0	0	0	8213	1291	45	1	1557	1	KIAA0776	6	96996144	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	6419559	96996144	74118923	146	36806										
C6orf167	253714	genome.wustl.edu	37	chr6	97711270	97711270	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aataagtagaacccataattCtttaatgcataaacatggac	5	7	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:97711270C>A	ENST00000275053.4	-	9	1148	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.E295*|MMS22L_ENST00000506256.1_5'UTR	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	295					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCCATAATTCTTTAATGCAT	0.333																																																	0													137	142	140					6																	97711270		2203	4297	6500	SO:0001587	stop_gained	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.883G>T	6.37:g.97711270C>A	ENSP00000275053:p.Glu295*		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E295*	ENST00000275053.4	37	c.883	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.824790	0.98968	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.2908	19.7501	0.96265	0.0:1.0:0.0:0.0	.	.	.	.	X	295	.	ENSP00000275053:E295X	E	-	1	0	MMS22L	97817991	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.512000	0.73737	2.667000	0.90743	0.491000	0.48974	GAA	MMS22L	-	NULL		0.333	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	C	NM_198468		97711270	-1	no_errors	ENST00000275053	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	97711270	C	A	97711270	4	1	193	1	0	0	0	0	0	1	0	0	2347	922	32	3	2916	3	C6orf167	6	97711270	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	715126	97711270	73403797	147	36807										
FYN	2534	genome.wustl.edu	37	chr6	112029209	112029209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttgtcaaggagcgggcttccCaccaatctccttccctgtaa	8	14	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:112029209C>A	ENST00000354650.3	-	6	965	c.359G>T	c.(358-360)tGg>tTg	p.W120L	FYN_ENST00000538466.1_Missense_Mutation_p.W120L|FYN_ENST00000356013.2_Missense_Mutation_p.W120L|FYN_ENST00000368678.4_Missense_Mutation_p.W120L|FYN_ENST00000229471.4_Missense_Mutation_p.W120L|FYN_ENST00000229470.5_Intron|FYN_ENST00000368682.3_Missense_Mutation_p.W120L|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368667.2_Missense_Mutation_p.W120L	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	120	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GCGGGCTTCCCACCAATCTCC	0.418																																																	0													92	88	90					6																	112029209		2203	4300	6503	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.359G>T	6.37:g.112029209C>A	ENSP00000346671:p.Trp120Leu		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.W120L	ENST00000354650.3	37	c.359	CCDS5094.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.523980	0.96431	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000356013;ENST00000538466;ENST00000462856;ENST00000520518;ENST00000517419;ENST00000518295;ENST00000523238;ENST00000524310;ENST00000523574;ENST00000462598	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	6.08	6.08	0.98989	Src homology-3 domain (5);	0.063060	0.64402	D	0.000002	T	0.77778	0.4181	M	0.87097	2.86	0.80722	D	1	D;P;D	0.67145	0.978;0.716;0.996	P;P;D	0.69307	0.782;0.525;0.963	T	0.79522	-0.1769	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	120;120;120	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	L	120	ENSP00000357671:W120L;ENSP00000346671:W120L;ENSP00000229471:W120L;ENSP00000357656:W120L;ENSP00000357667:W120L;ENSP00000348295:W120L;ENSP00000440646:W120L;ENSP00000427993:W120L;ENSP00000429294:W120L;ENSP00000429866:W120L;ENSP00000428695:W120L;ENSP00000430364:W120L;ENSP00000428493:W120L;ENSP00000429992:W120L;ENSP00000429590:W120L	ENSP00000229471:W120L	W	-	2	0	FYN	112135902	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	TGG	FYN	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.418	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	C			112029209	-1	no_errors	ENST00000354650	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112029209	C	A	112029209	3	1	193	1	0	0	0	0	1	0	0	0	6144	595	21	4	1450	4	FYN	6	112029209	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	14317939	112029209	59085858	148	36808										
KPNA5	3841	genome.wustl.edu	37	chr6	117023290	117023290	+	Missense_Mutation	SNP	G	G	A													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttatcaaacttcttaattctGaacatgaagatgttcaggaa							TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:117023290G>A	ENST00000368564.1	+	6	692	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	KPNA5_ENST00000356348.1_Missense_Mutation_p.E182K			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	179	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TCTTAATTCTGAACATGAAGA	0.353																																																	0													94	95	95					6																	117023290		2203	4300	6503	SO:0001583	missense	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.544G>A	6.37:g.117023290G>A	ENSP00000357552:p.Glu182Lys		B2RAI5|Q86X23	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.E182K	ENST00000368564.1	37	c.544	CCDS5111.1	6	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312354	0.81358	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.29142	1.58;1.58	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	L	0.46157	1.445	0.52501	D	0.999951	B	0.28584	0.216	B	0.31614	0.133	T	0.05500	-1.0881	10	0.66056	D	0.02	.	19.3845	0.94551	0.0:0.0:1.0:0.0	.	179	O15131	IMA5_HUMAN	K	182	ENSP00000357552:E182K;ENSP00000348704:E182K	ENSP00000348704:E182K	E	+	1	0	KPNA5	117129983	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.257000	0.78362	2.596000	0.87737	0.591000	0.81541	GAA	KPNA5	-	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.353	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	G	NM_002269		117023290	1	no_errors	ENST00000356348	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117023290	G	A	117023290	3	1	193	1	0	0	0	0	1	0	0	0	8453	1291	45	1	566	1	KPNA5	6	117023290	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4994081	117023290	54091777	149	36809	232	2								
KPNA5	3841	genome.wustl.edu	37	chr6	117023296	117023296	+	Missense_Mutation	SNP	G	G	A													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aacttcttaattctgaacatGaagatgttcaggaacaggta							TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:117023296G>A	ENST00000368564.1	+	6	698	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	KPNA5_ENST00000356348.1_Missense_Mutation_p.E184K			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	181	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTCTGAACATGAAGATGTTCA	0.343																																																	0													93	93	93					6																	117023296		2203	4300	6503	SO:0001583	missense	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.550G>A	6.37:g.117023296G>A	ENSP00000357552:p.Glu184Lys		B2RAI5|Q86X23	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.E184K	ENST00000368564.1	37	c.550	CCDS5111.1	6	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834847	0.71373	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.70869	-0.52;-0.52	5.51	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.064272	0.64402	D	0.000013	T	0.72922	0.3521	M	0.75085	2.285	0.43032	D	0.994609	D	0.56746	0.977	P	0.60682	0.878	T	0.72513	-0.4270	10	0.18710	T	0.47	.	14.496	0.67688	0.0713:0.0:0.9287:0.0	.	181	O15131	IMA5_HUMAN	K	184	ENSP00000357552:E184K;ENSP00000348704:E184K	ENSP00000348704:E184K	E	+	1	0	KPNA5	117129989	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.066000	0.93949	1.330000	0.45394	0.591000	0.81541	GAA	KPNA5	-	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.343	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	G	NM_002269		117023296	1	no_errors	ENST00000356348	ensembl	human	known	70_37	missense	SNP	1.000	A	A	117023296	G	A	117023296	3	1	193	1	0	0	0	0	1	0	0	0	8453	1291	45	1	572	1	KPNA5	6	117023296	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	6	117023296	54091771	150	36810	232	2								
C6orf204	387119	genome.wustl.edu	37	chr6	118786573	118786573	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gggactaacacttgatcactGagtaatgcagttgtctccca	9	10	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:118786573G>C	ENST00000368491.3	-	13	3034	c.2413C>G	c.(2413-2415)Cag>Gag	p.Q805E	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q808E	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	805						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTTGATCACTGAGTAATGCAG	0.428																																																	0													259	238	244					6																	118786573		2013	4183	6196	SO:0001583	missense	387119			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2413C>G	6.37:g.118786573G>C	ENSP00000357477:p.Gln805Glu		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	NULL	p.Q808E	ENST00000368491.3	37	c.2422	CCDS43498.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498896	0.85069	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.37411	1.22;1.2	5.84	5.84	0.93424	.	0.062597	0.64402	D	0.000005	T	0.55369	0.1916	M	0.65975	2.015	0.45648	D	0.998573	D	0.67145	0.996	D	0.76071	0.987	T	0.56384	-0.7988	10	0.87932	D	0	.	20.1336	0.98010	0.0:0.0:1.0:0.0	.	805	Q5SZL2	CF204_HUMAN	E	805;808	ENSP00000357477:Q805E;ENSP00000357474:Q808E	ENSP00000357474:Q808E	Q	-	1	0	C6orf204	118893266	1.000000	0.71417	0.999000	0.59377	0.785000	0.44390	8.503000	0.90509	2.767000	0.95098	0.591000	0.81541	CAG	CEP85L	-	NULL		0.428	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	G	NM_001042475		118786573	-1	no_errors	ENST00000368488	ensembl	human	known	70_37	missense	SNP	1.000	C	C	118786573	G	C	118786573	3	2	193	1	0	0	0	0	1	0	0	0	2358	1299	45	1	8	1	C6orf204	6	118786573	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1763277	118786573	52328494	151	36811										
GPR126	57211	genome.wustl.edu	37	chr6	142691547	142691547	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctttctatccatttctgattCaaaatgtttgttgaataatg	5	6	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:142691547C>G	ENST00000230173.6	+	4	1162	c.686C>G	c.(685-687)tCa>tGa	p.S229*	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Nonsense_Mutation_p.S229*|GPR126_ENST00000367608.2_Nonsense_Mutation_p.S229*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.S229*	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	229	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ATTTCTGATTCAAAATGTTTG	0.383																																																	0													57	55	55					6																	142691547		1831	4092	5923	SO:0001587	stop_gained	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.686C>G	6.37:g.142691547C>G	ENSP00000230173:p.Ser229*		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S229*	ENST00000230173.6	37	c.686	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092009	0.76756	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	.	.	.	5.4	2.62	0.31277	.	0.717849	0.12590	N	0.455654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.6904	0.40125	0.0:0.7482:0.0:0.2518	.	.	.	.	X	229;229;229;229;228	.	ENSP00000230173:S229X	S	+	2	0	GPR126	142733240	0.001000	0.12720	0.058000	0.19502	0.242000	0.25591	0.973000	0.29422	0.667000	0.31107	0.650000	0.86243	TCA	GPR126	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.383	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	C			142691547	1	no_errors	ENST00000367609	ensembl	human	known	70_37	nonsense	SNP	0.002	G	G	142691547	C	G	142691547	4	3	193	1	0	0	0	0	0	1	0	0	6659	838	29	1	700	1	GPR126	6	142691547	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	23904974	142691547	28423520	152	36812										
STXBP5	134957	genome.wustl.edu	37	chr6	147660514	147660514	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tttccaagatggtagccaatGatataggtaggaaatagaaa	10	4	0	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:147660514G>C	ENST00000321680.6	+	21	2248	c.2248G>C	c.(2248-2250)Gat>Cat	p.D750H	STXBP5_ENST00000179882.6_Intron|STXBP5_ENST00000367480.3_Intron|STXBP5_ENST00000367481.3_Intron	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	750					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGTAGCCAATGATATAGGTAG	0.303																																																	0													65	59	61					6																	147660514		692	1589	2281	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2248G>C	6.37:g.147660514G>C	ENSP00000321826:p.Asp750His		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.D750H	ENST00000321680.6	37	c.2248	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081870	0.55861	.	.	ENSG00000164506	ENST00000321680	T	0.22539	1.95	5.03	5.03	0.67393	.	0.415730	0.27792	N	0.017829	T	0.28300	0.0699	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.03166	-1.1065	10	0.48119	T	0.1	.	18.709	0.91649	0.0:0.0:1.0:0.0	.	750	Q5T5C0	STXB5_HUMAN	H	750	ENSP00000321826:D750H	ENSP00000321826:D750H	D	+	1	0	STXBP5	147702207	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.131000	0.89601	2.483000	0.83821	0.585000	0.79938	GAT	STXBP5	-	NULL		0.303	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	G			147660514	1	no_errors	ENST00000321680	ensembl	human	known	70_37	missense	SNP	1.000	C	C	147660514	G	C	147660514	3	2	193	1	0	0	0	0	1	0	0	0	15386	1290	45	1	2330	1	STXBP5	6	147660514	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4968967	147660514	23454553	153	36813										
SYNE1	23345	genome.wustl.edu	37	chr6	152576212	152576212	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttcagacatttccttaatgtCtttggcaagaatctagaggt	8	7	3	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:152576212C>G	ENST00000367255.5	-	104	19874	c.19273G>C	c.(19273-19275)Gac>Cac	p.D6425H	SYNE1_ENST00000423061.1_Missense_Mutation_p.D6354H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D6354H|SYNE1_ENST00000356820.4_Missense_Mutation_p.D949H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D6037H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6425H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6425					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		TCCTTAATGTCTTTGGCAAGA	0.318										HNSCC(10;0.0054)																																							0													60	53	55					6																	152576212		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19273G>C	6.37:g.152576212C>G	ENSP00000356224:p.Asp6425His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D6425H	ENST00000367255.5	37	c.19273	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942035	0.73557	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.55930	0.58;0.56;0.49;0.57;0.67;2.59	5.87	5.87	0.94306	.	0.090226	0.47852	D	0.000218	T	0.55970	0.1954	L	0.51422	1.61	0.40224	D	0.977779	P;P;D	0.59357	0.954;0.954;0.985	P;P;P	0.59825	0.668;0.668;0.864	T	0.59188	-0.7501	10	0.72032	D	0.01	.	14.3782	0.66892	0.0:0.9298:0.0:0.0702	.	6425;6425;6354	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	H	6425;6354;6425;6354;6037;949	ENSP00000356224:D6425H;ENSP00000396024:D6354H;ENSP00000265368:D6425H;ENSP00000390975:D6354H;ENSP00000341887:D6037H;ENSP00000349276:D949H	ENSP00000265368:D6425H	D	-	1	0	SYNE1	152617905	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.081000	0.57627	2.785000	0.95823	0.655000	0.94253	GAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.318	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152576212	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	G	G	152576212	C	G	152576212	3	3	193	1	0	0	0	0	1	0	0	0	15475	913	32	1	7365	1	SYNE1	6	152576212	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4915698	152576212	18538855	154	36814										
RBM16	22828	genome.wustl.edu	37	chr6	155114064	155114064	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gggattccgcctccagttgtCacacctgttttggccagcac	10	14	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:155114064C>T	ENST00000367178.3	+	5	1005	c.429C>T	c.(427-429)gtC>gtT	p.V143V	SCAF8_ENST00000417268.1_Silent_p.V143V|SCAF8_ENST00000367186.4_Silent_p.V209V|SCAF8_ENST00000461219.1_3'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	143					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCCAGTTGTCACACCTGTTT	0.398																																																	0													82	81	81					6																	155114064		2203	4300	6503	SO:0001819	synonymous_variant	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.429C>T	6.37:g.155114064C>T			B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.V209	ENST00000367178.3	37	c.627	CCDS5247.1	6																																																																																			SCAF8	-	superfamily_ENTH_VHS		0.398	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	C	NM_014892		155114064	1	no_errors	ENST00000367186	ensembl	human	known	70_37	silent	SNP	1.000	T	T	155114064	C	T	155114064	2	4	193	1	0	0	0	0	0	0	0	1	13148	813	29	1		1	RBM16	6	155114064	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2537852	155114064	16001003	155	36815										
WDR27	253769	genome.wustl.edu	37	chr6	170043795	170043795	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aattaagacatgttttacctGaaaacacagcaggtgtccca	7	9	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:170043795G>A	ENST00000448612.1	-	17	1854	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L	WDR27_ENST00000423258.1_Missense_Mutation_p.S455L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.S582L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	552						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TGTTTTACCTGAAAACACAGC	0.453																																																	0													49	52	51					6																	170043795		1895	4114	6009	SO:0001583	missense	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1745C>T	6.37:g.170043795G>A	ENSP00000416289:p.Ser582Leu		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S582L	ENST00000448612.1	37	c.1745	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212859	0.58452	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.60548	0.91;0.92;0.18	5.19	4.23	0.50019	.	0.766918	0.11659	N	0.542062	T	0.53932	0.1827	L	0.35793	1.09	0.80722	D	1	P;D;P	0.76494	0.473;0.999;0.921	B;D;P	0.65443	0.146;0.935;0.744	T	0.53005	-0.8499	10	0.49607	T	0.09	-26.1796	9.0407	0.36316	0.0868:0.0:0.754:0.1592	.	582;455;582	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	L	582;582;455	ENSP00000416289:S582L;ENSP00000330265:S582L;ENSP00000397869:S455L	ENSP00000330265:S582L	S	-	2	0	WDR27	169785720	1.000000	0.71417	0.967000	0.41034	0.875000	0.50365	1.491000	0.35583	2.420000	0.82092	0.591000	0.81541	TCA	WDR27	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.453	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	G	NM_182552		170043795	-1	no_errors	ENST00000448612	ensembl	human	known	70_37	missense	SNP	0.928	A	A	170043795	G	A	170043795	3	1	193	1	0	0	0	0	1	0	0	0	17315	1294	45	1	864	1	WDR27	6	170043795	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	14929731	170043795	1071272	156	36816										
SLC29A4	222962	genome.wustl.edu	37	chr7	5342455	5342455	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	catgaccgtgtcctacatgtCagggctgacgctggggtccg	14	12	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:5342455C>G	ENST00000396872.3	+	11	1639	c.1478C>G	c.(1477-1479)tCa>tGa	p.S493*	SLC29A4_ENST00000406453.3_Nonsense_Mutation_p.S479*|SLC29A4_ENST00000439491.2_Intron|SLC29A4_ENST00000297195.4_Nonsense_Mutation_p.S493*			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	493					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCCTACATGTCAGGGCTGACG	0.677																																																	0													35	27	30					7																	5342455		2195	4288	6483	SO:0001587	stop_gained	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1478C>G	7.37:g.5342455C>G	ENSP00000380081:p.Ser493*		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Nonsense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.S493*	ENST00000396872.3	37	c.1478	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	38	6.868377	0.97897	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	.	.	.	4.26	4.26	0.50523	.	0.202352	0.41097	D	0.000949	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1119	15.2155	0.73264	0.0:1.0:0.0:0.0	.	.	.	.	X	493;493;479	.	ENSP00000297195:S493X	S	+	2	0	SLC29A4	5308981	1.000000	0.71417	0.994000	0.49952	0.847000	0.48162	5.063000	0.64332	2.077000	0.62373	0.486000	0.48141	TCA	SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt		0.677	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5342455	1	no_errors	ENST00000297195	ensembl	human	known	70_37	nonsense	SNP	0.999	G	G	5342455	C	G	5342455	4	3	193	1	0	0	0	0	0	1	0	0	14567	838	29	1	1516	1	SLC29A4	7	5342455	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		5342455	153796208	157	36817										
ABCB5	340273	genome.wustl.edu	37	chr7	20762743	20762743	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gagatgacattcctgattctGagtattgctccagtacttgc	9	9	1	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:20762743G>C	ENST00000404938.2	+	21	3178	c.2526G>C	c.(2524-2526)ctG>ctC	p.L842L	ABCB5_ENST00000258738.6_Silent_p.L397L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	842	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCCTGATTCTGAGTATTGCTC	0.418																																																	0													164	153	157					7																	20762743		2203	4300	6503	SO:0001819	synonymous_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2526G>C	7.37:g.20762743G>C			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L397	ENST00000404938.2	37	c.1191	CCDS55090.1	7																																																																																			ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.418	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	G	NM_178559		20762743	1	no_errors	ENST00000258738	ensembl	human	known	70_37	silent	SNP	0.554	C	C	20762743	G	C	20762743	2	2	193	1	0	0	0	0	0	0	0	1	44	1277	45	1		1	ABCB5	7	20762743	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	15420288	20762743	138375920	158	36818										
RP9	6100	genome.wustl.edu	37	chr7	33136969	33136969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgaccatagcgtttgcaacGccaacctaaaaacgaaaaga	8	10	0	2	rs367979669		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:33136969G>T	ENST00000297157.3	-	4	336	c.319C>A	c.(319-321)Cgt>Agt	p.R107S		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	107	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			CGTTTGCAACGCCAACCTAAA	0.363																																																	0													71	68	69					7																	33136969		2203	4300	6503	SO:0001583	missense	6100			AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"Pim-1 kinase associated protein"	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.319C>A	7.37:g.33136969G>T	ENSP00000297157:p.Arg107Ser			Missense_Mutation	SNP	NULL	p.R107S	ENST00000297157.3	37	c.319	CCDS5440.1	7	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212177	0.58452	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	D;D	0.82803	-1.65;-1.65	3.77	2.87	0.33458	Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.86802	0.6020	M	0.76727	2.345	0.47308	D	0.99938	D	0.59357	0.985	P	0.60236	0.871	D	0.85624	0.1266	10	0.87932	D	0	-43.348	6.245	0.20811	0.1038:0.0:0.5936:0.3026	.	107	Q8TA86	RP9_HUMAN	S	107;73	ENSP00000297157:R107S;ENSP00000411577:R73S	ENSP00000297157:R107S	R	-	1	0	RP9	33103494	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.091000	0.57700	0.864000	0.35578	0.400000	0.26472	CGT	RP9	-	NULL		0.363	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP9	HGNC	protein_coding	OTTHUMT00000328914.1	G	NM_203288		33136969	-1	no_errors	ENST00000297157	ensembl	human	known	70_37	missense	SNP	1.000	T	T	33136969	G	T	33136969	3	4	193	1	0	0	0	0	1	0	0	0	13565	1087	38	2	358	2	RP9	7	33136969	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	12374226	33136969	126001694	159	36819										
ABCA13	154664	genome.wustl.edu	37	chr7	48312496	48312496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgatgaagattttcgtatttCtttatttcaatatatgagcc	6	5	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:48312496C>T	ENST00000435803.1	+	17	3257	c.3233C>T	c.(3232-3234)tCt>tTt	p.S1078F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1078					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTCGTATTTCTTTATTTCAA	0.363																																																	0													38	36	36					7																	48312496		1815	4076	5891	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3233C>T	7.37:g.48312496C>T	ENSP00000411096:p.Ser1078Phe		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1078F	ENST00000435803.1	37	c.3233	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859190	0.71834	.	.	ENSG00000179869	ENST00000435803	D	0.91464	-2.85	5.7	5.7	0.88788	.	0.000000	0.49305	D	0.000155	D	0.94265	0.8158	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.64042	0.921	D	0.94370	0.7595	10	0.87932	D	0	.	17.353	0.87329	0.0:1.0:0.0:0.0	.	1078	Q86UQ4	ABCAD_HUMAN	F	1078	ENSP00000411096:S1078F	ENSP00000411096:S1078F	S	+	2	0	ABCA13	48283042	0.002000	0.14202	0.984000	0.44739	0.851000	0.48451	0.925000	0.28791	2.848000	0.98002	0.655000	0.94253	TCT	ABCA13	-	NULL		0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48312496	1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.666	T	T	48312496	C	T	48312496	3	4	193	1	0	0	0	0	1	0	0	0	31	913	32	1	3128	1	ABCA13	7	48312496	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	15175527	48312496	110826167	160	36820										
PCLO	27445	genome.wustl.edu	37	chr7	82580735	82580735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atactgtggggtactaatccCagctcctgaaatgacttgtc	9	10	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:82580735C>T	ENST00000333891.9	-	6	9506	c.9169G>A	c.(9169-9171)Ggg>Agg	p.G3057R	PCLO_ENST00000423517.2_Missense_Mutation_p.G3057R|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTACTAATCCCAGCTCCTGAA	0.458																																																	0													96	90	92					7																	82580735		1906	4124	6030	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9169G>A	7.37:g.82580735C>T	ENSP00000334319:p.Gly3057Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.G3057R	ENST00000333891.9	37	c.9169	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	9.623	1.134452	0.21123	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.22336	1.96;1.97	5.58	5.58	0.84498	.	.	.	.	.	T	0.47116	0.1428	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.96;0.996;0.996	T	0.40608	-0.9554	9	0.87932	D	0	.	19.1624	0.93539	0.0:1.0:0.0:0.0	.	2988;3057;3057	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	2988;3057;3057	ENSP00000334319:G3057R;ENSP00000388393:G3057R	ENSP00000334319:G3057R	G	-	1	0	PCLO	82418671	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.740000	0.62087	2.634000	0.89283	0.563000	0.77884	GGG	PCLO	-	NULL		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82580735	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	T	T	82580735	C	T	82580735	3	4	193	1	0	0	0	0	1	0	0	0	11607	594	21	4	6356	4	PCLO	7	82580735	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	34268239	82580735	76557928	161	36821										
ABCB1	5243	genome.wustl.edu	37	chr7	87179871	87179871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tctggtttgtgcccactcttCgaatagctgtcaatacttgg	9	10	3	0	rs200370991		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:87179871C>T	ENST00000265724.3	-	12	1554	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	ABCB1_ENST00000543898.1_Silent_p.S315S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	379					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCCCACTCTTCGAATAGCTGT	0.333																																																	0													93	90	91					7																	87179871		2203	4300	6503	SO:0001819	synonymous_variant	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1137G>A	7.37:g.87179871C>T			A8K294|B5AK60|Q12755|Q14812	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S379	ENST00000265724.3	37	c.1137	CCDS5608.1	7																																																																																			ABCB1	-	NULL		0.333	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	C	NM_000927		87179871	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	silent	SNP	0.052	T	T	87179871	C	T	87179871	2	4	193	1	0	0	0	0	0	0	0	1	40	871	31	1		1	ABCB1	7	87179871	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4599136	87179871	71958792	162	36822										
CDK6	1021	genome.wustl.edu	37	chr7	92462443	92462443	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcgaaggtctccaggtgcctCagcaccgccacctcgcggat	11	16	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:92462443C>T	ENST00000265734.4	-	2	606	c.195G>A	c.(193-195)ctG>ctA	p.L65L	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Silent_p.L65L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	65	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCAGGTGCCTCAGCACCGCCA	0.706			T	MLLT10	ALL						OREG0018165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													24	24	24					7																	92462443		2200	4298	6498	SO:0001819	synonymous_variant	1021				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.195G>A	7.37:g.92462443C>T		1290	A4D1G0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L65	ENST00000265734.4	37	c.195	CCDS5628.1	7																																																																																			CDK6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.706	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	C			92462443	-1	no_errors	ENST00000265734	ensembl	human	known	70_37	silent	SNP	1.000	T	T	92462443	C	T	92462443	2	4	193	1	0	0	0	0	0	0	0	1	3153	813	29	1		1	CDK6	7	92462443	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	5282572	92462443	66676220	163	36823										
SAMD9	54809	genome.wustl.edu	37	chr7	92732753	92732753	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttaaaattggttttcatgatCataaaggaataaaaatcctc	5	5	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:92732753C>T	ENST00000379958.2	-	3	2927	c.2658G>A	c.(2656-2658)atG>atA	p.M886I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	886						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCATGATCATAAAGGAAT	0.323																																																	0													43	44	43					7																	92732753		2203	4299	6502	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2658G>A	7.37:g.92732753C>T	ENSP00000369292:p.Met886Ile		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.M886I	ENST00000379958.2	37	c.2658	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202851	0.58234	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.28069	1.63;2.46	4.47	3.58	0.41010	.	0.125660	0.48767	U	0.000162	T	0.30230	0.0758	M	0.65975	2.015	0.35387	D	0.79042	P	0.37781	0.608	B	0.31290	0.127	T	0.50792	-0.8786	10	0.66056	D	0.02	-9.774	13.1224	0.59334	0.0:0.8373:0.1627:0.0	.	886	Q5K651	SAMD9_HUMAN	I	886	ENSP00000369292:M886I;ENSP00000414529:M886I	ENSP00000369292:M886I	M	-	3	0	SAMD9	92570689	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.476000	0.60216	1.077000	0.40990	0.609000	0.83330	ATG	SAMD9	-	NULL		0.323	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92732753	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	1.000	T	T	92732753	C	T	92732753	3	4	193	1	0	0	0	0	1	0	0	0	13856	826	29	1	2115	1	SAMD9	7	92732753	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	270310	92732753	66405910	164	36824										
TFPI2	7980	genome.wustl.edu	37	chr7	93519487	93519487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	catcgtcgcaagcctcccagGtgtagaaattgttggcgttg	12	10	0	1	rs367633100		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:93519487G>T	ENST00000222543.5	-	2	545	c.233C>A	c.(232-234)aCc>aAc	p.T78N	AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Missense_Mutation_p.T78N	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	78	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AGCCTCCCAGGTGTAGAAATT	0.617																																																	0													36	38	38					7																	93519487		2203	4300	6503	SO:0001583	missense	7980			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.233C>A	7.37:g.93519487G>T	ENSP00000222543:p.Thr78Asn		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.T78N	ENST00000222543.5	37	c.233	CCDS5632.1	7	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408290	0.62399	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.61627	0.09;0.09	4.95	4.05	0.47172	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.337812	0.34133	N	0.004222	T	0.73001	0.3531	M	0.71296	2.17	0.09310	N	1	P;D;P;D	0.69078	0.659;0.997;0.946;0.997	B;D;P;D	0.68483	0.284;0.958;0.618;0.958	T	0.67154	-0.5742	10	0.66056	D	0.02	.	14.2721	0.66157	0.0:0.2938:0.7062:0.0	.	49;67;78;78	A4ZVU7;Q8NAK6;F5H3J8;P48307	.;.;.;TFPI2_HUMAN	N	78	ENSP00000222543:T78N;ENSP00000438861:T78N	ENSP00000222543:T78N	T	-	2	0	TFPI2	93357423	0.117000	0.22190	0.008000	0.14137	0.028000	0.11728	0.540000	0.23191	1.167000	0.42706	0.313000	0.20887	ACC	TFPI2	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m		0.617	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	G	NM_006528		93519487	-1	no_errors	ENST00000222543	ensembl	human	known	70_37	missense	SNP	0.038	T	T	93519487	G	T	93519487	3	4	193	1	0	0	0	0	1	0	0	0	15839	1261	44	4	490	4	TFPI2	7	93519487	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	786734	93519487	65619176	165	36825										
SLC25A13	10165	genome.wustl.edu	37	chr7	95818668	95818668	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttccagaggagcaatccgttCaatgtctgctaaggtcatac	9	10	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:95818668C>T	ENST00000265631.5	-	9	1007	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	SLC25A13_ENST00000416240.2_Missense_Mutation_p.E291K|SLC25A13_ENST00000542654.1_Missense_Mutation_p.E183K			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	291					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GCAATCCGTTCAATGTCTGCT	0.418																																																	0													95	93	93					7																	95818668		2203	4300	6503	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.871G>A	7.37:g.95818668C>T	ENSP00000265631:p.Glu291Lys		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E291K	ENST00000265631.5	37	c.871	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794575	0.50102	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80123	-1.33;-1.34;-1.3	4.69	4.69	0.59074	.	0.053627	0.64402	N	0.000001	T	0.81735	0.4885	M	0.82923	2.615	0.80722	D	1	B;B;B	0.31274	0.317;0.212;0.212	B;B;B	0.31101	0.124;0.058;0.058	T	0.78986	-0.1987	10	0.18710	T	0.47	-16.1743	18.9332	0.92574	0.0:1.0:0.0:0.0	.	183;291;291	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	K	291;291;183	ENSP00000265631:E291K;ENSP00000400101:E291K;ENSP00000440484:E183K	ENSP00000265631:E291K	E	-	1	0	SLC25A13	95656604	1.000000	0.71417	0.999000	0.59377	0.183000	0.23260	5.839000	0.69395	2.885000	0.99019	0.655000	0.94253	GAA	SLC25A13	-	NULL		0.418	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	C	NM_014251		95818668	-1	no_errors	ENST00000416240	ensembl	human	known	70_37	missense	SNP	1.000	T	T	95818668	C	T	95818668	3	4	193	1	0	0	0	0	1	0	0	0	14505	835	29	1	1199	1	SLC25A13	7	95818668	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2299181	95818668	63319995	166	36826										
BAIAP2L1	55971	genome.wustl.edu	37	chr7	97939870	97939870	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gagcggggggcatctttggtGagcatttagaaagggtgtcg	18	5	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:97939870G>A	ENST00000005260.8	-	9	1057	c.842C>T	c.(841-843)tCa>tTa	p.S281L	RP4-607J23.2_ENST00000609873.1_RNA|RP4-607J23.2_ENST00000608882.1_RNA|BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	281					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CATCTTTGGTGAGCATTTAGA	0.438																																																	0													95	101	99					7																	97939870		2203	4300	6503	SO:0001583	missense	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.842C>T	7.37:g.97939870G>A	ENSP00000005260:p.Ser281Leu		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S281L	ENST00000005260.8	37	c.842	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245791	0.59103	.	.	ENSG00000006453	ENST00000005260	T	0.22539	1.95	5.5	5.5	0.81552	.	0.817273	0.11439	N	0.564032	T	0.27278	0.0669	L	0.60455	1.87	0.35774	D	0.821103	B	0.06786	0.001	B	0.06405	0.002	T	0.17992	-1.0351	10	0.28530	T	0.3	-18.7267	18.3824	0.90455	0.0:0.0:1.0:0.0	.	281	Q9UHR4	BI2L1_HUMAN	L	281	ENSP00000005260:S281L	ENSP00000005260:S281L	S	-	2	0	AC093799.1	97777806	0.199000	0.23386	0.868000	0.34077	0.910000	0.53928	2.855000	0.48333	2.587000	0.87381	0.655000	0.94253	TCA	BAIAP2L1	-	NULL		0.438	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	G	NM_018842		97939870	-1	no_errors	ENST00000005260	ensembl	human	known	70_37	missense	SNP	0.973	A	A	97939870	G	A	97939870	3	1	193	1	0	0	0	0	1	0	0	0	1303	1294	45	1	717	1	BAIAP2L1	7	97939870	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2121202	97939870	61198793	167	36827										
ZAN	7455	genome.wustl.edu	37	chr7	100391775	100391775	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttctgactgaggactgctctCagcggtgcacctgtgccagc	12	13	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:100391775C>G	ENST00000348028.3	+	0	8016				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGACTGCTCTCAGCGGTGCAC	0.627																																																	0													58	63	61					7																	100391775		2047	4209	6256			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100391775C>G			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_TIL_dom,pfam_Unchr_dom_Cys-rich,pfam_EG-like_dom,superfamily_TIL_dom,smart_EG-like_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_EG-like_dom	p.Q1045E	ENST00000348028.3	37	c.3133		7	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461495	0.43736	.	.	ENSG00000146839	ENST00000546213	T	0.05139	3.49	4.58	2.55	0.30701	von Willebrand factor, type C (1);	.	.	.	.	T	0.05044	0.0135	.	.	.	0.19300	N	0.999977	B;B	0.19331	0.035;0.021	B;B	0.21360	0.015;0.034	T	0.39603	-0.9606	8	0.25751	T	0.34	.	10.3598	0.43987	0.0:0.6094:0.3905:0.0	.	1045;2674	F5GX59;Q9Y493	.;ZAN_HUMAN	E	1045	ENSP00000441117:Q1045E	ENSP00000441117:Q1045E	Q	+	1	0	ZAN	100229711	0.957000	0.32711	0.878000	0.34440	0.520000	0.34377	2.252000	0.43196	1.214000	0.43395	0.491000	0.48974	CAG	ZAN	-	smart_VWC_out		0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100391775	1	no_errors	ENST00000546213	ensembl	human	known	70_37	missense	SNP	0.890	G	G	100391775	C	G	100391775	1	3	193	0	1	0	0	0	0	0	0	0	17544	827	29	1		1	ZAN	7	100391775	RNA	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2451905	100391775	58746888	168	36828										
SND1	27044	genome.wustl.edu	37	chr7	127326700	127326700	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcgccatcattgtccgaggtCagcctcgtggtgggcctcct	13	14	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:127326700C>G	ENST00000354725.3	+	2	306	c.112C>G	c.(112-114)Cag>Gag	p.Q38E		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	38	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGTCCGAGGTCAGCCTCGTGG	0.557																																																	0													100	91	94					7																	127326700		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.112C>G	7.37:g.127326700C>G	ENSP00000346762:p.Gln38Glu		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.Q38E	ENST00000354725.3	37	c.112	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984867	0.74474	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.29397	1.57	5.77	4.9	0.64082	Staphylococcal nuclease (SNase-like) (3);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	L	0.42632	1.34	0.58432	D	0.999999	B	0.32653	0.379	B	0.36335	0.222	T	0.02654	-1.1128	10	0.06236	T	0.91	-24.921	12.9435	0.58359	0.0:0.9213:0.0:0.0787	.	38	Q7KZF4	SND1_HUMAN	E	38;28	ENSP00000346762:Q38E	ENSP00000346762:Q38E	Q	+	1	0	SND1	127113936	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.458000	0.80787	1.578000	0.49821	0.655000	0.94253	CAG	SND1	-	superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.557	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127326700	1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	G	G	127326700	C	G	127326700	3	3	193	1	0	0	0	0	1	0	0	0	14874	827	29	1	118	1	SND1	7	127326700	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	26934925	127326700	31811963	169	36829										
MLL3	58508	genome.wustl.edu	37	chr7	151877100	151877100	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	attctctggttgccagtgttGaagaggccctggatgaggca	14	8	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:151877100G>A	ENST00000262189.6	-	37	7479	c.7261C>T	c.(7261-7263)Caa>Taa	p.Q2421*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2421*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2421	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCCAGTGTTGAAGAGGCCCT	0.542																																																	0													234	198	211					7																	151877100		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7261C>T	7.37:g.151877100G>A	ENSP00000262189:p.Gln2421*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2421*	ENST00000262189.6	37	c.7261	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.501213	0.99836	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.5	5.5	0.81552	.	0.527792	0.15522	N	0.258017	.	.	.	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2563	0.66053	0.0:0.0:0.8511:0.1489	.	.	.	.	X	2421	.	ENSP00000262189:Q2421X	Q	-	1	0	MLL3	151508033	1.000000	0.71417	0.970000	0.41538	0.944000	0.59088	5.096000	0.64535	2.578000	0.87016	0.650000	0.86243	CAA	MLL3	-	NULL		0.542	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151877100	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.530	A	A	151877100	G	A	151877100	4	1	193	1	0	0	0	0	0	1	0	0	9645	1299	45	1	7566	1	MLL3	7	151877100	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	24550400	151877100	7261563	170	36830										
TNFRSF10D	8793	genome.wustl.edu	37	chr8	23021422	23021422	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gctcgagcgctcgaggcggtCgggacgctttgtccccaaag	15	13	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:23021422C>T	ENST00000312584.3	-	1	121	c.27G>A	c.(25-27)ccG>ccA	p.P9P		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	9					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TCGAGGCGGTCGGGACGCTTT	0.582											OREG0018632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29	27	28					8																	23021422		2203	4299	6502	SO:0001819	synonymous_variant	8793			AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"Tumor necrosis factor receptor superfamily", "CD molecules"	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.27G>A	8.37:g.23021422C>T		760	B2R8W0|Q9Y6Q4	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.P9	ENST00000312584.3	37	c.27	CCDS6038.1	8																																																																																			TNFRSF10D	-	NULL		0.582	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10D	HGNC	protein_coding	OTTHUMT00000215135.1	C			23021422	-1	no_errors	ENST00000312584	ensembl	human	known	70_37	silent	SNP	0.000	T	T	23021422	C	T	23021422	2	4	193	1	0	0	0	0	0	0	0	1	16313	871	31	1		1	TNFRSF10D	8	23021422	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		23021422	123342600	171	36831										
KIF13B	23303	genome.wustl.edu	37	chr8	29025072	29025072	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggactcacagtagccaccaTggcggtcttgctgttacccc	10	14	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:29025072T>G	ENST00000524189.1	-	11	1014	c.976A>C	c.(976-978)Atg>Ctg	p.M326L	KIF13B_ENST00000521515.1_Missense_Mutation_p.M326L	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	326	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTAGCCACCATGGCGGTCTTG	0.473																																																	0													113	110	111					8																	29025072		1978	4155	6133	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.976A>C	8.37:g.29025072T>G	ENSP00000427900:p.Met326Leu		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M326L	ENST00000524189.1	37	c.976	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366071	0.82463	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.77229	-1.08;-1.08	4.67	4.67	0.58626	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	M	0.71920	2.185	0.80722	D	1	P;D;D	0.89917	0.856;0.989;1.0	D;D;D	0.91635	0.91;0.987;0.999	D	0.88418	0.3026	10	0.87932	D	0	.	14.2837	0.66232	0.0:0.0:0.0:1.0	.	312;326;326	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	L	326	ENSP00000427900:M326L;ENSP00000429201:M326L	ENSP00000429201:M326L	M	-	1	0	KIF13B	29080991	1.000000	0.71417	0.997000	0.53966	0.641000	0.38312	7.803000	0.85983	1.967000	0.57214	0.459000	0.35465	ATG	KIF13B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.473	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	T			29025072	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	missense	SNP	1.000	G	G	29025072	T	G	29025072	3	3	193	1	0	0	0	0	1	0	0	0	8295	1464	51	5	4624	5	KIF13B	8	29025072	Missense_Mutation	SNP	T	TCGA-UC-A7PF-01A-11D-A351-09	6003650	29025072	117338950	172	36832										
RBPMS	11030	genome.wustl.edu	37	chr8	30416465	30416465	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaagtcccgtcagttctgctGaatactatgtaagtactcgc	9	10	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:30416465G>T	ENST00000320203.4	+	7	1172	c.590G>T	c.(589-591)tGa>tTa	p.*197L	RBPMS_ENST00000397323.4_Nonstop_Mutation_p.*197L|RBPMS_ENST00000538486.1_Nonstop_Mutation_p.*154L|RBPMS_ENST00000287771.5_3'UTR	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	0					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CAGTTCTGCTGAATACTATGT	0.557																																																	0													103	100	101					8																	30416465		2203	4300	6503	SO:0001578	stop_lost	11030			D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"RNA binding motif (RRM) containing"	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.590G>T	8.37:g.30416465G>T	ENSP00000318102:p.*197Leuext*54		D3DSU9|Q92516|Q92517|Q92518|Q96J26	Nonstop_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.*197L	ENST00000320203.4	37	c.590	CCDS6077.1	8	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527260	0.44969	.	.	ENSG00000157110	ENST00000538486;ENST00000397323;ENST00000320203	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4473	0.87581	0.0:0.0:1.0:0.0	.	.	.	.	L	154;197;197	.	.	X	+	2	2	RBPMS	30536007	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.281000	0.58965	2.710000	0.92621	0.557000	0.71058	TGA	RBPMS	-	NULL		0.557	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RBPMS	HGNC	protein_coding	OTTHUMT00000376357.2	G			30416465	1	no_errors	ENST00000320203	ensembl	human	known	70_37	nonstop	SNP	1.000	T	T	30416465	G	T	30416465	4	4	193	1	0	0	0	0	0	0	0	0	13193	1285	45	3	842	3	RBPMS	8	30416465	Nonstop_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1391393	30416465	115947557	173	36833										
TEX15	56154	genome.wustl.edu	37	chr8	30701580	30701580	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgaacattcttgctttctttCaaaagcttccacaaataaag	4	9	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:30701580C>G	ENST00000256246.2	-	1	5028	c.4954G>C	c.(4954-4956)Gaa>Caa	p.E1652Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1652					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E1652Q(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCTTTCTTTCAAAAGCTTCC	0.358																																																	1	Substitution - Missense(1)	cervix(1)											57	58	58					8																	30701580		2202	4299	6501	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4954G>C	8.37:g.30701580C>G	ENSP00000256246:p.Glu1652Gln			Missense_Mutation	SNP	NULL	p.E1652Q	ENST00000256246.2	37	c.4954	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135465	0.56828	.	.	ENSG00000133863	ENST00000256246	T	0.27104	1.69	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000009	T	0.42539	0.1207	M	0.63843	1.955	0.40991	D	0.98485	D	0.71674	0.998	D	0.62955	0.909	T	0.39583	-0.9607	10	0.87932	D	0	.	8.681	0.34209	0.0:0.7677:0.1534:0.0789	.	1652	Q9BXT5	TEX15_HUMAN	Q	1652	ENSP00000256246:E1652Q	ENSP00000256246:E1652Q	E	-	1	0	TEX15	30821122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.529000	0.45632	2.795000	0.96236	0.655000	0.94253	GAA	TEX15	-	NULL		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30701580	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	G	G	30701580	C	G	30701580	3	3	193	1	0	0	0	0	1	0	0	0	15809	835	29	1	3431	1	TEX15	8	30701580	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	285115	30701580	115662442	174	36834										
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37732367	37732367	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	caaagaggacctcctgctctCtggcttcttgctctccttag	8	14	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:37732367C>T	ENST00000330843.4	-	3	1300	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E430K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E282K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E282K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	430					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTCCTGCTCTCTGGCTTCTTG	0.572																																																	0													101	93	96					8																	37732367		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1288G>A	8.37:g.37732367C>T	ENSP00000331342:p.Glu430Lys		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E430K	ENST00000330843.4	37	c.1288	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304655	0.60305	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.38722	1.99;2.28;1.27;1.12	4.91	4.91	0.64330	.	0.184097	0.38217	N	0.001763	T	0.64897	0.2640	M	0.76002	2.32	0.50313	D	0.999863	D;D;D;D	0.71674	0.988;0.979;0.998;0.995	P;P;D;P	0.80764	0.696;0.747;0.994;0.78	T	0.64433	-0.6409	10	0.34782	T	0.22	-21.5083	18.1145	0.89546	0.0:1.0:0.0:0.0	.	282;282;430;430	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	K	430;430;282;282	ENSP00000287263:E430K;ENSP00000331342:E430K;ENSP00000430009:E282K;ENSP00000430680:E282K	ENSP00000287263:E430K	E	-	1	0	RAB11FIP1	37851525	1.000000	0.71417	0.999000	0.59377	0.125000	0.20455	5.985000	0.70556	2.264000	0.75181	0.563000	0.77884	GAG	RAB11FIP1	-	NULL		0.572	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	C	NM_025151		37732367	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37732367	C	T	37732367	3	4	193	1	0	0	0	0	1	0	0	0	12923	922	32	1	2579	1	RAB11FIP1	8	37732367	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	7030787	37732367	108631655	175	36835										
SLC20A2	6575	genome.wustl.edu	37	chr8	42294923	42294923	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttgctttcctgggctggcttCtcctcggggcccctgtcgat	12	14	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:42294923C>T	ENST00000342228.3	-	8	1476	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	SLC20A2_ENST00000520179.1_Silent_p.E369E|SLC20A2_ENST00000520262.1_Silent_p.E369E	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	369					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGCTGGCTTCTCCTCGGGGC	0.582																																																	0													117	116	116					8																	42294923		2203	4300	6503	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1107G>A	8.37:g.42294923C>T				Silent	SNP	pfam_Phos_transporter	p.E369	ENST00000342228.3	37	c.1107	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter		0.582	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	C			42294923	-1	no_errors	ENST00000342228	ensembl	human	known	70_37	silent	SNP	0.694	T	T	42294923	C	T	42294923	2	4	193	1	0	0	0	0	0	0	0	1	14469	912	32	1		1	SLC20A2	8	42294923	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4562556	42294923	104069099	176	36836										
VCPIP1	80124	genome.wustl.edu	37	chr8	67577840	67577840	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tttagcagctgctgtgacttCctcaggctgaactcctatca	8	12	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:67577840C>G	ENST00000310421.4	-	1	1612	c.1354G>C	c.(1354-1356)Gaa>Caa	p.E452Q	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	452					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GCTGTGACTTCCTCAGGCTGA	0.438																																					NSCLC(179;265 2915 6144 43644)												0													130	129	129					8																	67577840		2203	4300	6503	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1354G>C	8.37:g.67577840C>G	ENSP00000309031:p.Glu452Gln		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E452Q	ENST00000310421.4	37	c.1354	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786620	0.49997	.	.	ENSG00000175073	ENST00000310421	T	0.33438	1.41	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.54323	1.7	0.80722	D	1	P	0.38395	0.629	B	0.34991	0.193	T	0.07539	-1.0767	10	0.41790	T	0.15	-15.9666	19.6397	0.95753	0.0:1.0:0.0:0.0	.	452	Q96JH7	VCIP1_HUMAN	Q	452	ENSP00000309031:E452Q	ENSP00000309031:E452Q	E	-	1	0	VCPIP1	67740394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	GAA	VCPIP1	-	NULL		0.438	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67577840	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	missense	SNP	1.000	G	G	67577840	C	G	67577840	3	3	193	1	0	0	0	0	1	0	0	0	17172	864	30	1	2326	1	VCPIP1	8	67577840	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	25282917	67577840	78786182	177	36837										
KCNB2	9312	genome.wustl.edu	37	chr8	73849309	73849309	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccatctgcatatgaagaagaGattgaaatggaagaagtggt	12	4	1	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:73849309G>C	ENST00000523207.1	+	3	2307	c.1719G>C	c.(1717-1719)gaG>gaC	p.E573D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	573					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ATGAAGAAGAGATTGAAATGG	0.502																																																	0													76	69	71					8																	73849309		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1719G>C	8.37:g.73849309G>C	ENSP00000430846:p.Glu573Asp		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.E573D	ENST00000523207.1	37	c.1719	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241968	0.58995	.	.	ENSG00000182674	ENST00000523207	T	0.38240	1.15	5.46	5.46	0.80206	.	0.963178	0.08474	N	0.940551	T	0.56171	0.1967	M	0.64997	1.995	0.33565	D	0.59793	D	0.89917	1.0	D	0.91635	0.999	T	0.58194	-0.7679	10	0.56958	D	0.05	.	7.1258	0.25471	0.2085:0.0:0.7915:0.0	.	573	Q92953	KCNB2_HUMAN	D	573	ENSP00000430846:E573D	ENSP00000430846:E573D	E	+	3	2	KCNB2	74011863	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.087000	0.50167	2.543000	0.85770	0.655000	0.94253	GAG	KCNB2	-	pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2		0.502	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	G	NM_004770		73849309	1	no_errors	ENST00000523207	ensembl	human	known	70_37	missense	SNP	1.000	C	C	73849309	G	C	73849309	3	2	193	1	0	0	0	0	1	0	0	0	8033	933	33	1	1725	1	KCNB2	8	73849309	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	6271469	73849309	72514713	178	36838										
ZFHX4	79776	genome.wustl.edu	37	chr8	77766172	77766172	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaaagcagtgttacaaggatGaagatgatgatgcccaagat	11	5	0	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:77766172G>A	ENST00000521891.2	+	10	7463	c.7015G>A	c.(7015-7017)Gaa>Aaa	p.E2339K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2313K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2294K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2294K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTACAAGGATGAAGATGATGA	0.443										HNSCC(33;0.089)																																							0													176	168	170					8																	77766172		2043	4205	6248	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7015G>A	8.37:g.77766172G>A	ENSP00000430497:p.Glu2339Lys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E2339K	ENST00000521891.2	37	c.7015	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196305	0.78902	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57907	0.37;0.46;0.4;0.42	4.44	4.44	0.53790	Zinc finger, C2H2 (1);	0.000000	0.45867	U	0.000336	T	0.67748	0.2926	L	0.52011	1.625	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.77557	0.978;0.99;0.99	T	0.70985	-0.4723	10	0.66056	D	0.02	.	17.6272	0.88096	0.0:0.0:1.0:0.0	.	2294;2294;2339	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2339;2323;2294;2294;2313	ENSP00000430497:E2339K;ENSP00000399605:E2294K;ENSP00000050961:E2294K;ENSP00000430848:E2313K	ENSP00000050961:E2294K	E	+	1	0	ZFHX4	77928727	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.601000	0.98297	2.475000	0.83589	0.650000	0.86243	GAA	ZFHX4	-	pfscan_Znf_C2H2		0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77766172	1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77766172	G	A	77766172	3	1	193	1	0	0	0	0	1	0	0	0	17665	1291	45	1	7049	1	ZFHX4	8	77766172	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3916863	77766172	68597850	179	36839										
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885075	88885075	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agcagccctggtgctcctcgGaagcccccgaggcgagaaga	14	14	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:88885075G>A	ENST00000319675.3	-	1	1221	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	375										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GTGCTCCTCGGAAGCCCCCGA	0.592																																																	0													54	60	58					8																	88885075		2203	4300	6503	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1125C>T	8.37:g.88885075G>A				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F375	ENST00000319675.3	37	c.1125	CCDS6245.1	8																																																																																			DCAF4L2	-	NULL		0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	G	NM_152418		88885075	-1	no_errors	ENST00000319675	ensembl	human	known	70_37	silent	SNP	0.414	A	A	88885075	G	A	88885075	2	1	193	1	0	0	0	0	0	0	0	1	4277	1165	41	1		1	DCAF4L2	8	88885075	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	11118903	88885075	57478947	180	36840										
DPY19L4	286148	genome.wustl.edu	37	chr8	95738627	95738627	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ataaggaatctgccaaagaaGagaaaatcagtgacattcca	8	7	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:95738627G>A	ENST00000414645.2	+	2	184	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	29						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGCCAAAGAAGAGAAAATCAG	0.348																																																	0													65	70	68					8																	95738627		2203	4300	6503	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.85G>A	8.37:g.95738627G>A	ENSP00000389630:p.Glu29Lys		Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	pfam_Dpy-19	p.E29K	ENST00000414645.2	37	c.85	CCDS34924.1	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078621	0.76528	.	.	ENSG00000156162	ENST00000522422;ENST00000414645;ENST00000519353	T	0.63913	-0.07	5.35	5.35	0.76521	.	0.059715	0.64402	D	0.000006	T	0.48333	0.1494	L	0.27053	0.805	0.47341	D	0.999391	B	0.02656	0.0	B	0.04013	0.001	T	0.37526	-0.9702	10	0.27785	T	0.31	-6.2946	13.3962	0.60853	0.0767:0.0:0.9233:0.0	.	29	Q7Z388	D19L4_HUMAN	K	29;29;2	ENSP00000389630:E29K	ENSP00000389630:E29K	E	+	1	0	DPY19L4	95807803	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.724000	0.38064	2.660000	0.90430	0.655000	0.94253	GAG	DPY19L4	-	NULL		0.348	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L4	HGNC	protein_coding	OTTHUMT00000379339.1	G	NM_181787		95738627	1	no_errors	ENST00000414645	ensembl	human	known	70_37	missense	SNP	1.000	A	A	95738627	G	A	95738627	3	1	193	1	0	0	0	0	1	0	0	0	4753	943	33	1	91	1	DPY19L4	8	95738627	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	6853552	95738627	50625395	181	36841										
VPS13B	157680	genome.wustl.edu	37	chr8	100712049	100712049	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaatttctgttcaaactactCagattgtgatctccatggaa	6	8	4	2	rs386834101		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:100712049C>T	ENST00000358544.2	+	36	6529	c.6418C>T	c.(6418-6420)Cag>Tag	p.Q2140*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q2115*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2140					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAAACTACTCAGATTGTGAT	0.413																																					Colon(161;2205 2542 7338 31318)												0													94	83	87					8																	100712049		2203	4300	6503	SO:0001587	stop_gained	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6418C>T	8.37:g.100712049C>T	ENSP00000351346:p.Gln2140*		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q2140*	ENST00000358544.2	37	c.6418	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	48	14.192872	0.99784	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	.	.	.	X	2115;2140	.	ENSP00000349685:Q2115X	Q	+	1	0	VPS13B	100781225	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.422000	0.73357	2.761000	0.94854	0.655000	0.94253	CAG	VPS13B	-	NULL		0.413	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100712049	1	no_errors	ENST00000358544	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	100712049	C	T	100712049	4	4	193	1	0	0	0	0	0	1	0	0	17221	827	29	1	6750	1	VPS13B	8	100712049	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4973422	100712049	45651973	182	36842										
TMEM74	157753	genome.wustl.edu	37	chr8	109797062	109797062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccgctgttatttggttgttcCctgagtggagaagtcctggt	13	8	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:109797062C>T	ENST00000297459.3	-	2	444	c.266G>A	c.(265-267)gGg>gAg	p.G89E	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	89					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGGTTGTTCCCTGAGTGGAG	0.468																																																	0													138	136	137					8																	109797062		2203	4300	6503	SO:0001583	missense	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.266G>A	8.37:g.109797062C>T	ENSP00000297459:p.Gly89Glu			Missense_Mutation	SNP	NULL	p.G89E	ENST00000297459.3	37	c.266	CCDS6310.1	8	.	.	.	.	.	.	.	.	.	.	C	0.253	-1.004945	0.02112	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.68	1.34	0.21922	.	0.526138	0.17926	N	0.157359	T	0.26846	0.0657	N	0.14661	0.345	0.30873	N	0.732265	B	0.09022	0.002	B	0.12156	0.007	T	0.23726	-1.0180	9	0.17369	T	0.5	-1.4197	10.4496	0.44513	0.0:0.6569:0.0:0.3431	.	89	Q96NL1	TMM74_HUMAN	E	89	.	ENSP00000297459:G89E	G	-	2	0	TMEM74	109866238	0.018000	0.18449	0.973000	0.42090	0.795000	0.44927	0.079000	0.14782	0.346000	0.23899	0.655000	0.94253	GGG	TMEM74	-	NULL		0.468	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	C	NM_153015		109797062	-1	no_errors	ENST00000297459	ensembl	human	known	70_37	missense	SNP	0.776	T	T	109797062	C	T	109797062	3	4	193	1	0	0	0	0	1	0	0	0	16232	623	22	4	655	4	TMEM74	8	109797062	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	9085013	109797062	36566960	183	36843										
KLHL38	340359	genome.wustl.edu	37	chr8	124658171	124658171	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acgtagagtttgtttcccatCactgtggccccatggtgcat	10	11	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:124658171C>T	ENST00000325995.7	-	3	1577	c.1554G>A	c.(1552-1554)gtG>gtA	p.V518V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	518										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGTTTCCCATCACTGTGGCCC	0.547																																																	0													97	108	104					8																	124658171		2099	4225	6324	SO:0001819	synonymous_variant	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1554G>A	8.37:g.124658171C>T			A0PK12	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V518	ENST00000325995.7	37	c.1554	CCDS43766.1	8																																																																																			KLHL38	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.547	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	C			124658171	-1	no_errors	ENST00000325995	ensembl	human	known	70_37	silent	SNP	1.000	T	T	124658171	C	T	124658171	2	4	193	1	0	0	0	0	0	0	0	1	8410	813	29	1		1	KLHL38	8	124658171	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	14861109	124658171	21705851	184	36844										
CYC1	1537	genome.wustl.edu	37	chr8	145151377	145151377	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggagcattgccccctgacctCagctacatcgtgcgagctag	11	14	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:145151377C>G	ENST00000318911.4	+	4	664	c.591C>G	c.(589-591)ctC>ctG	p.L197L		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	197	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCTGACCTCAGCTACATCG	0.577											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115	108	111					8																	145151377		2203	4300	6503	SO:0001819	synonymous_variant	1537			BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.591C>G	8.37:g.145151377C>G		1692	Q5U062|Q6FHS7	Silent	SNP	pfam_Cyt_c1,superfamily_Cyt_c_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1	p.L197	ENST00000318911.4	37	c.591	CCDS6415.1	8																																																																																			CYC1	-	pfam_Cyt_c1,superfamily_Cyt_c_dom,prints_Cyt_c1		0.577	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYC1	HGNC	protein_coding	OTTHUMT00000382895.1	C	NM_001916		145151377	1	no_errors	ENST00000318911	ensembl	human	known	70_37	silent	SNP	1.000	G	G	145151377	C	G	145151377	2	3	193	1	0	0	0	0	0	0	0	1	4140	813	29	1		1	CYC1	8	145151377	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	20493206	145151377	1212645	185	36845										
IFNA21	3452	genome.wustl.edu	37	chr9	21166471	21166471	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttcaggcaggagaaaggagaGattcttcccatttgtgccag	12	8	2	2	rs551245471		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:21166471G>A	ENST00000380225.1	-	1	188	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	47					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAAAGGAGAGATTCTTCCCA	0.522																																																	0													101	104	103					9																	21166471		2203	4298	6501	SO:0001819	synonymous_variant	3452				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"Interferons"	5424	protein-coding gene	gene with protein product	"leukocyte interferon protein"	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.141C>T	9.37:g.21166471G>A			Q14608|Q5VWD1|Q7M4Q4	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.I47	ENST00000380225.1	37	c.141	CCDS6497.1	9																																																																																			IFNA21	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core		0.522	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA21	HGNC	protein_coding	OTTHUMT00000051882.1	G	NM_002175		21166471	-1	no_errors	ENST00000380225	ensembl	human	known	70_37	silent	SNP	0.015	A	A	21166471	G	A	21166471	2	1	193	1	0	0	0	0	0	0	0	1	7558	932	33	1		1	IFNA21	9	21166471	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		21166471	120046960	186	36846										
TAF1L	138474	genome.wustl.edu	37	chr9	32632175	32632175	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctcccattcacgtgacagctGagagctggttttcttgttct	9	11	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:32632175G>C	ENST00000242310.4	-	1	3492	c.3403C>G	c.(3403-3405)Cag>Gag	p.Q1135E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1135					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.Q1135E(1)|p.Q1135*(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGTGACAGCTGAGAGCTGGTT	0.468																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(1)|breast(1)											217	171	186					9																	32632175		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3403C>G	9.37:g.32632175G>C	ENSP00000418379:p.Gln1135Glu		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.Q1135E	ENST00000242310.4	37	c.3403	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280697	0.40294	.	.	ENSG00000122728	ENST00000242310	T	0.07567	3.18	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	L	0.45698	1.435	0.50171	D	0.999858	B	0.19200	0.034	B	0.17098	0.017	T	0.22068	-1.0227	10	0.39692	T	0.17	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1135	Q8IZX4	TAF1L_HUMAN	E	1135	ENSP00000418379:Q1135E	ENSP00000418379:Q1135E	Q	-	1	0	TAF1L	32622175	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	6.138000	0.71717	0.507000	0.28148	0.195000	0.17529	CAG	TAF1L	-	pirsf_TAF1_animal		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	G			32632175	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	C	C	32632175	G	C	32632175	3	2	193	1	0	0	0	0	1	0	0	0	15553	1299	45	1	2081	1	TAF1L	9	32632175	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	11465704	32632175	108581256	187	36847										
NTRK2	4915	genome.wustl.edu	37	chr9	87570324	87570324	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tacctggcgtcccagcacttCgtgcaccgcgatttggccac	10	16	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:87570324C>T	ENST00000323115.4	+	15	2369	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	NTRK2_ENST00000376213.1_Silent_p.F672F|NTRK2_ENST00000376214.1_Silent_p.F688F|NTRK2_ENST00000277120.3_Silent_p.F688F			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCCAGCACTTCGTGCACCGCG	0.617										TSP Lung(25;0.17)																																							0													57	54	55					9																	87570324		2203	4300	6503	SO:0001819	synonymous_variant	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2016C>T	9.37:g.87570324C>T			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.F688	ENST00000323115.4	37	c.2064	CCDS35050.1	9																																																																																			NTRK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.617	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	C			87570324	1	no_errors	ENST00000277120	ensembl	human	known	70_37	silent	SNP	0.972	T	T	87570324	C	T	87570324	2	4	193	1	0	0	0	0	0	0	0	1	10731	883	31	1		1	NTRK2	9	87570324	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	54938149	87570324	53643107	188	36848										
ZCCHC6	79670	genome.wustl.edu	37	chr9	88967805	88967805	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgaattaccagtatgttcatCagacagccatctcttactct	5	11	4	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:88967805C>G	ENST00000375963.3	-	2	482	c.310G>C	c.(310-312)Gat>Cat	p.D104H	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.D104H|ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D104H|ZCCHC6_ENST00000277141.6_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	104					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTATGTTCATCAGACAGCCAT	0.398																																																	0													197	192	194					9																	88967805		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.310G>C	9.37:g.88967805C>G	ENSP00000365130:p.Asp104His		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.D104H	ENST00000375963.3	37	c.310	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129186	0.77549	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.63255	-0.03;-0.03;0.07	5.03	5.03	0.67393	.	0.078821	0.52532	D	0.000077	T	0.71256	0.3318	L	0.29908	0.895	0.47994	D	0.999561	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.995	D;D;D;D;D	0.91635	0.999;0.999;0.988;0.964;0.92	T	0.74925	-0.3498	10	0.87932	D	0	-6.0442	18.5494	0.91058	0.0:1.0:0.0:0.0	.	104;104;104;104;104	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	H	104	ENSP00000365127:D104H;ENSP00000365128:D104H;ENSP00000365130:D104H	ENSP00000365127:D104H	D	-	1	0	ZCCHC6	88157625	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.864000	0.62990	2.601000	0.87937	0.591000	0.81541	GAT	ZCCHC6	-	NULL		0.398	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	C	NM_024617		88967805	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	missense	SNP	1.000	G	G	88967805	C	G	88967805	3	3	193	1	0	0	0	0	1	0	0	0	17622	826	29	1	4281	1	ZCCHC6	9	88967805	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1397481	88967805	52245626	189	36849										
OGN	4969	genome.wustl.edu	37	chr9	95148528	95148528	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tctggtaaattaagaggcacGgattccagggcattatggtc	12	7	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:95148528G>T	ENST00000262551.4	-	6	1101	c.681C>A	c.(679-681)tcC>tcA	p.S227S	OGN_ENST00000375561.5_Silent_p.S227S|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	227					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)		p.S227S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TAAGAGGCACGGATTCCAGGG	0.368																																																	1	Substitution - coding silent(1)	endometrium(1)											195	187	190					9																	95148528		2203	4300	6503	SO:0001819	synonymous_variant	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	protein-coding gene	gene with protein product	"mimecan proteoglycan"	602383	"osteoglycin (osteoinductive factor)"			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.681C>A	9.37:g.95148528G>T			Q6FIB0|Q9UF90|Q9UNK5	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S227	ENST00000262551.4	37	c.681	CCDS6695.1	9																																																																																			OGN	-	smart_Leu-rich_rpt_typical-subtyp		0.368	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	G	NM_024416		95148528	-1	no_errors	ENST00000262551	ensembl	human	known	70_37	silent	SNP	1.000	T	T	95148528	G	T	95148528	2	4	193	1	0	0	0	0	0	0	0	1	10870	1103	39	2		2	OGN	9	95148528	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	6180723	95148528	46064903	190	36850										
PHF2	5253	genome.wustl.edu	37	chr9	96421802	96421802	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttgtcctgcaggctttggcaGagcatgaggacgagctcccg	14	11	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:96421802G>C	ENST00000359246.4	+	11	1616	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	417					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGCTTTGGCAGAGCATGAGGA	0.607																																																	0													57	53	54					9																	96421802		2203	4300	6503	SO:0001583	missense	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1249G>C	9.37:g.96421802G>C	ENSP00000352185:p.Glu417Gln		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.E417Q	ENST00000359246.4	37	c.1249	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096504	0.76870	.	.	ENSG00000197724	ENST00000359246	T	0.53206	0.63	4.42	4.42	0.53409	.	0.116088	0.64402	D	0.000018	T	0.45657	0.1353	L	0.51422	1.61	0.80722	D	1	D	0.54047	0.964	B	0.42163	0.378	T	0.53287	-0.8460	10	0.51188	T	0.08	-39.4531	17.2089	0.86925	0.0:0.0:1.0:0.0	.	417	O75151	PHF2_HUMAN	Q	417	ENSP00000352185:E417Q	ENSP00000352185:E417Q	E	+	1	0	PHF2	95461623	1.000000	0.71417	0.998000	0.56505	0.634000	0.38068	9.274000	0.95731	2.280000	0.76307	0.297000	0.19635	GAG	PHF2	-	NULL		0.607	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	G	NM_005392		96421802	1	no_errors	ENST00000359246	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96421802	G	C	96421802	3	2	193	1	0	0	0	0	1	0	0	0	11854	943	33	1	1291	1	PHF2	9	96421802	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1273274	96421802	44791629	191	36851										
C9orf102	375748	genome.wustl.edu	37	chr9	98685658	98685658	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cctaaatacagtggaaaaatGaaggtaagtgctcctctttc	8	8	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:98685658G>A	ENST00000288985.7	+	9	1868	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.M332I|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	521					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										GTGGAAAAATGAAGGTAAGTG	0.393																																																	0													105	102	103					9																	98685658		2203	4300	6503	SO:0001583	missense	375748			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1563G>A	9.37:g.98685658G>A	ENSP00000288985:p.Met521Ile		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M332I	ENST00000288985.7	37	c.996	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752647	0.89753	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817;ENST00000426805	T;T;T	0.74421	-0.84;-0.84;-0.84	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000005	D	0.85155	0.5632	M	0.71206	2.165	0.80722	D	1	D;D;D	0.71674	0.986;0.998;0.991	P;D;P	0.75484	0.73;0.986;0.842	D	0.85120	0.0968	10	0.44086	T	0.13	-23.162	17.9731	0.89119	0.0:0.0:1.0:0.0	.	332;203;521	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	I	203;521;332;8	ENSP00000288985:M521I;ENSP00000416286:M332I;ENSP00000395345:M8I	ENSP00000288985:M521I	M	+	3	0	C9orf102	97725479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.859000	0.92264	2.543000	0.85770	0.655000	0.94253	ATG	ERCC6L2	-	pfam_HDA_complex_subunit-2/3		0.393	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	G	NM_001010895		98685658	1	no_errors	ENST00000437817	ensembl	human	known	70_37	missense	SNP	1.000	A	A	98685658	G	A	98685658	3	1	193	1	0	0	0	0	1	0	0	0	2450	1290	45	1	1597	1	C9orf102	9	98685658	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2263856	98685658	42527773	192	36852										
FOXE1	2304	genome.wustl.edu	37	chr9	100616545	100616545	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcttcctcaagatcccgcgcGaggccggccgcccgggtaag	14	16	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:100616545G>C	ENST00000375123.3	+	1	1010	c.349G>C	c.(349-351)Gag>Cag	p.E117Q		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	117					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E117K(1)		central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GATCCCGCGCGAGGCCGGCCG	0.637																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											39	41	40					9																	100616545		2201	4300	6501	SO:0001583	missense	2304			U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"Forkhead boxes"	3806	protein-coding gene	gene with protein product		602617	"forkhead box E2"	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.349G>C	9.37:g.100616545G>C	ENSP00000364265:p.Glu117Gln		O75765|Q5T109|Q99526	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E117Q	ENST00000375123.3	37	c.349	CCDS35078.1	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330092	0.81690	.	.	ENSG00000178919	ENST00000375123	D	0.95554	-3.74	4.05	4.05	0.47172	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	D	0.000001	D	0.96052	0.8714	L	0.45352	1.415	0.58432	D	0.99999	D	0.76494	0.999	D	0.74348	0.983	D	0.95793	0.8826	10	0.48119	T	0.1	.	14.094	0.65008	0.0:0.0:1.0:0.0	.	117	O00358	FOXE1_HUMAN	Q	117	ENSP00000364265:E117Q	ENSP00000364265:E117Q	E	+	1	0	FOXE1	99656366	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.478000	0.60230	1.993000	0.58246	0.557000	0.71058	GAG	FOXE1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.637	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXE1	HGNC	protein_coding	OTTHUMT00000053341.1	G			100616545	1	no_errors	ENST00000375123	ensembl	human	known	70_37	missense	SNP	1.000	C	C	100616545	G	C	100616545	3	2	193	1	0	0	0	0	1	0	0	0	6021	1059	37	1	351	1	FOXE1	9	100616545	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1930887	100616545	40596886	193	36853										
EPB41L4B	54566	genome.wustl.edu	37	chr9	112003954	112003954	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcagtctctcaaagtgcagtCatgagtttatctcgatacat	7	9	5	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:112003954C>T	ENST00000374566.3	-	15	1927				EPB41L4B_ENST00000374557.4_Missense_Mutation_p.M515I	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B						actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGTGCAGTCATGAGTTTAT	0.433																																																	0													266	254	258					9																	112003954		2000	4167	6167	SO:0001627	intron_variant	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1409+1943G>A	9.37:g.112003954C>T			Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.M515I	ENST00000374566.3	37	c.1545	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323985	0.81580	.	.	ENSG00000095203	ENST00000374557;ENST00000311609	D	0.83914	-1.78	5.23	5.23	0.72850	.	.	.	.	.	D	0.85539	0.5720	N	0.19112	0.55	0.33889	D	0.637046	D	0.53745	0.962	D	0.66716	0.946	D	0.89438	0.3721	9	0.87932	D	0	.	19.0108	0.92872	0.0:1.0:0.0:0.0	.	515	Q9H329-2	.	I	515;437	ENSP00000363685:M515I	ENSP00000311274:M437I	M	-	3	0	EPB41L4B	111043775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.164000	0.64954	2.713000	0.92767	0.655000	0.94253	ATG	EPB41L4B	-	NULL		0.433	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	C	NM_018424		112003954	-1	no_errors	ENST00000374557	ensembl	human	known	70_37	missense	SNP	1.000	T	T	112003954	C	T	112003954	1	4	193	0	1	0	0	0	0	0	0	0	5168	826	29	1		1	EPB41L4B	9	112003954	Intron	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	11387409	112003954	29209477	194	36854										
ZNF483	158399	genome.wustl.edu	37	chr9	114296561	114296561	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	actttccagtttcaaaattaGagttgatttcccagctaaag	6	8	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:114296561G>A	ENST00000309235.5	+	5	807	c.649G>A	c.(649-651)Gag>Aag	p.E217K	ZNF483_ENST00000355824.3_Missense_Mutation_p.E217K|ZNF483_ENST00000358151.4_Missense_Mutation_p.E217K	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	217	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTCAAAATTAGAGTTGATTTC	0.398																																																	0													97	103	101					9																	114296561		2203	4300	6503	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.649G>A	9.37:g.114296561G>A	ENSP00000311679:p.Glu217Lys		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E217K	ENST00000309235.5	37	c.649	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339978	0.24339	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	T;T;T	0.00824	5.65;5.65;5.65	4.59	4.59	0.56863	Krueppel-associated box (3);	0.495835	0.17083	N	0.187705	T	0.01320	0.0043	L	0.49455	1.56	0.09310	N	1	B;B;B	0.30482	0.281;0.118;0.18	B;B;B	0.24541	0.037;0.054;0.027	T	0.47446	-0.9117	10	0.39692	T	0.17	-11.6666	13.1327	0.59391	0.0:0.0:1.0:0.0	.	217;217;217	Q6P088;Q8NAE1;Q8TF39	.;.;ZN483_HUMAN	K	217	ENSP00000350871:E217K;ENSP00000438048:E217K;ENSP00000311679:E217K	ENSP00000311679:E217K	E	+	1	0	ZNF483	113336382	0.977000	0.34250	0.202000	0.23494	0.053000	0.15095	4.709000	0.61867	2.563000	0.86464	0.650000	0.86243	GAG	ZNF483	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.398	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	G	XM_088567		114296561	1	no_errors	ENST00000309235	ensembl	human	known	70_37	missense	SNP	0.097	A	A	114296561	G	A	114296561	3	1	193	1	0	0	0	0	1	0	0	0	17966	943	33	1	663	1	ZNF483	9	114296561	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2292607	114296561	26916870	195	36855										
LRSAM1	90678	genome.wustl.edu	37	chr9	130251773	130251773	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctccaggtgaagaaagacctGatgcatcggcagatcaggag	13	9	1	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:130251773G>A	ENST00000323301.4	+	18	2002	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	LRSAM1_ENST00000300417.6_Silent_p.L466L|LRSAM1_ENST00000373322.1_Silent_p.L466L|LRSAM1_ENST00000373324.4_Silent_p.L466L|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	466					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGAAAGACCTGATGCATCGGC	0.642																																																	0													58	46	50					9																	130251773		2203	4300	6503	SO:0001819	synonymous_variant	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1398G>A	9.37:g.130251773G>A			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.L466	ENST00000323301.4	37	c.1398	CCDS6873.1	9																																																																																			LRSAM1	-	NULL		0.642	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130251773	1	no_errors	ENST00000300417	ensembl	human	known	70_37	silent	SNP	0.937	A	A	130251773	G	A	130251773	2	1	193	1	0	0	0	0	0	0	0	1	9066	1277	45	1		1	LRSAM1	9	130251773	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	15955212	130251773	10961658	196	36856										
CIZ1	25792	genome.wustl.edu	37	chr9	130940030	130940030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggtgaccttcagggagccccCggcgccccatacctgcatgg	13	16	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:130940030C>T	ENST00000393608.1	-	10	1835	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000541172.1_Missense_Mutation_p.G444R|CIZ1_ENST00000372954.1_Missense_Mutation_p.G465R|CIZ1_ENST00000538431.1_Missense_Mutation_p.G545R|CIZ1_ENST00000372938.5_Missense_Mutation_p.G545R|CIZ1_ENST00000277465.4_Missense_Mutation_p.G517R|CIZ1_ENST00000372948.3_Missense_Mutation_p.G489R|CIZ1_ENST00000325721.8_Missense_Mutation_p.G516R|CIZ1_ENST00000357558.5_Missense_Mutation_p.G517R	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	545					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGGGAGCCCCCGGCGCCCCAT	0.582																																																	0													18	17	17					9																	130940030		2201	4298	6499	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1633G>A	9.37:g.130940030C>T	ENSP00000377232:p.Gly545Arg		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.G545R	ENST00000393608.1	37	c.1633	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489771	0.64074	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.96;0.84;1.12;0.96;1.39;1.12;0.79;0.96;1.53	5.48	5.48	0.80851	.	0.000000	0.51477	D	0.000099	T	0.62551	0.2437	L	0.46157	1.445	0.36607	D	0.874998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;0.999;0.999	T	0.69866	-0.5029	10	0.87932	D	0	-37.3234	15.0027	0.71486	0.143:0.857:0.0:0.0	.	545;484;489;465;545;516;517	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	R	465;545;545;517;516;484;444;517;489;545;467	ENSP00000362045:G465R;ENSP00000377232:G545R;ENSP00000439244:G545R;ENSP00000350169:G517R;ENSP00000320374:G516R;ENSP00000445057:G444R;ENSP00000277465:G517R;ENSP00000362039:G489R;ENSP00000362029:G545R;ENSP00000398011:G467R	ENSP00000277465:G517R	G	-	1	0	CIZ1	129979851	0.995000	0.38212	0.998000	0.56505	0.459000	0.32528	3.820000	0.55693	2.577000	0.86979	0.462000	0.41574	GGG	CIZ1	-	NULL		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	C	NM_012127		130940030	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	0.996	T	T	130940030	C	T	130940030	3	4	193	1	0	0	0	0	1	0	0	0	3446	652	23	2	1095	2	CIZ1	9	130940030	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	688257	130940030	10273401	197	36857										
C9orf106	414318	genome.wustl.edu	37	chr9	132084251	132084251	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cccatccgagcccttcccttCagtgcctcttcctctgggaa	7	18	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:132084251C>T	ENST00000316786.1	+	0	212							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				cccttcccttcagtgcctctt	0.612																																																	0													64	65	64					9																	132084251		1944	4099	6043			414318			AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084251C>T				RNA	SNP	-	NULL	ENST00000316786.1	37	NULL		9																																																																																			C9orf106	-	-		0.612	C9orf106-001	KNOWN	basic	processed_transcript	C9orf106	HGNC	processed_transcript	OTTHUMT00000054576.2	C			132084251	1	no_errors	ENST00000316786	ensembl	human	known	70_37	rna	SNP	0.000	T	T	132084251	C	T	132084251	1	4	193	0	1	0	0	0	0	0	0	0	2452	825	29	1		1	C9orf106	9	132084251	RNA	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1144221	132084251	9129180	198	36858										
ABL1	25	genome.wustl.edu	37	chr9	133750392	133750392	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccccatcaaatggactgcacCcgagagcctggcctacaaca	8	16	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:133750392C>G	ENST00000318560.5	+	7	1604	c.1223C>G	c.(1222-1224)cCc>cGc	p.P408R		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGGACTGCACCCGAGAGCCTG	0.547			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											108	86	93					9																	133750392		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1223C>G	9.37:g.133750392C>G	ENSP00000323315:p.Pro408Arg		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.P427R	ENST00000318560.5	37	c.1280	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766472	0.90020	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.89939	-2.59;-2.59	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.99097	1.0842	10	0.87932	D	0	.	17.802	0.88590	0.0:1.0:0.0:0.0	.	408;445	P00519;Q59FK4	ABL1_HUMAN;.	R	223;427;408	ENSP00000361423:P427R;ENSP00000323315:P408R	ENSP00000323315:P408R	P	+	2	0	ABL1	132740213	1.000000	0.71417	0.110000	0.21437	0.972000	0.66771	7.810000	0.86072	2.450000	0.82876	0.655000	0.94253	CCC	ABL1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.547	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133750392	1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	G	G	133750392	C	G	133750392	3	3	193	1	0	0	0	0	1	0	0	0	92	623	22	4	1389	4	ABL1	9	133750392	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1666141	133750392	7463039	199	36859										
SETX	23064	genome.wustl.edu	37	chr9	135205465	135205465	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctttggagcaatttccagatGatttctcagaactccgtgta	8	9	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:135205465G>C	ENST00000224140.5	-	10	1702	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	SETX_ENST00000393220.1_Nonsense_Mutation_p.S507*|SETX_ENST00000372169.2_Nonsense_Mutation_p.S507*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	507					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTTCCAGATGATTTCTCAGA	0.448																																																	0													107	111	110					9																	135205465		2203	4300	6503	SO:0001587	stop_gained	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1520C>G	9.37:g.135205465G>C	ENSP00000224140:p.Ser507*		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	NULL	p.S507*	ENST00000224140.5	37	c.1520	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.577860	0.98368	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	.	.	.	5.82	4.87	0.63330	.	1.074660	0.07230	N	0.862287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.7825	0.46386	0.0732:0.1332:0.7936:0.0	.	.	.	.	X	507	.	ENSP00000224140:S507X	S	-	2	0	SETX	134195286	0.114000	0.22134	0.958000	0.39756	0.997000	0.91878	2.926000	0.48892	2.754000	0.94517	0.650000	0.86243	TCA	SETX	-	NULL		0.448	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	G	NM_015046		135205465	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	nonsense	SNP	0.372	C	C	135205465	G	C	135205465	4	2	193	1	0	0	0	0	0	1	0	0	14171	1294	45	1	6581	1	SETX	9	135205465	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1455073	135205465	6007966	200	36860										
KIAA0649	9858	genome.wustl.edu	37	chr9	138377333	138377333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaagccggcaaccccctgccGcccttcagaagcagcacaga	10	17	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:138377333G>A	ENST00000356818.2	+	4	1526	c.977G>A	c.(976-978)cGc>cAc	p.R326H	PPP1R26_ENST00000604351.1_Missense_Mutation_p.R326H|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R326H|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R326H|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R326H	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	326					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										ACCCCCTGCCGCCCTTCAGAA	0.622																																																	0													44	50	48					9																	138377333		2203	4300	6503	SO:0001583	missense	9858			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.977G>A	9.37:g.138377333G>A	ENSP00000349274:p.Arg326His		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	NULL	p.R326H	ENST00000356818.2	37	c.977	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	G	7.341	0.621001	0.14193	.	.	ENSG00000196422	ENST00000356818	T	0.11277	2.79	4.03	-4.17	0.03857	.	1.125910	0.06691	N	0.769656	T	0.04407	0.0121	N	0.04203	-0.255	0.09310	N	1	B	0.18310	0.027	B	0.15484	0.013	T	0.42882	-0.9425	10	0.40728	T	0.16	-2.1897	6.1443	0.20276	0.408:0.234:0.358:0.0	.	326	Q5T8A7	PPR26_HUMAN	H	326	ENSP00000349274:R326H	ENSP00000349274:R326H	R	+	2	0	KIAA0649	137517154	.	.	0.000000	0.03702	0.025000	0.11179	.	.	-0.846000	0.04174	-0.140000	0.14226	CGC	PPP1R26	-	NULL		0.622	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	G	NM_014811		138377333	1	no_errors	ENST00000356818	ensembl	human	known	70_37	missense	SNP	0.000	A	A	138377333	G	A	138377333	3	1	193	1	0	0	0	0	1	0	0	0	8207	1087	38	2	979	2	KIAA0649	9	138377333	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3171868	138377333	2836098	201	36861										
SOHLH1	402381	genome.wustl.edu	37	chr9	138590275	138590275	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cctcccgccggccatcgaacTggggcagcagggcccgcaga	14	17	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:138590275T>A	ENST00000298466.5	-	3	305	c.245A>T	c.(244-246)cAg>cTg	p.Q82L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.Q82L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCATCGAACTGGGGCAGCAG	0.652																																																	0													80	82	81					9																	138590275		2203	4300	6503	SO:0001583	missense	402381			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.245A>T	9.37:g.138590275T>A	ENSP00000298466:p.Gln82Leu		C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.Q82L	ENST00000298466.5	37	c.245	CCDS35174.1	9	.	.	.	.	.	.	.	.	.	.	T	9.265	1.044319	0.19748	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	D;D	0.97888	-4.59;-4.59	4.17	-3.92	0.04155	Helix-loop-helix DNA-binding (5);	.	.	.	.	D	0.94169	0.8129	L	0.40543	1.245	0.09310	N	1	P;P	0.42123	0.73;0.771	B;B	0.39738	0.138;0.308	D	0.88388	0.3006	9	0.37606	T	0.19	-8.3759	10.3434	0.43893	0.0:0.3826:0.0:0.6174	.	82;82	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	L	82	ENSP00000298466:Q82L;ENSP00000404438:Q82L	ENSP00000298466:Q82L	Q	-	2	0	SOHLH1	137730096	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-1.021000	0.03615	-0.815000	0.04346	-0.475000	0.04921	CAG	SOHLH1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.652	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOHLH1	HGNC	protein_coding	OTTHUMT00000055018.2	T	NM_001012415		138590275	-1	no_errors	ENST00000425225	ensembl	human	known	70_37	missense	SNP	0.000	A	A	138590275	T	A	138590275	3	1	193	1	0	0	0	0	1	0	0	0	14953	1580	55	5	983	5	SOHLH1	9	138590275	Missense_Mutation	SNP	T	TCGA-UC-A7PF-01A-11D-A351-09	212942	138590275	2623156	202	36862										
CUBN	8029	genome.wustl.edu	37	chr10	16975228	16975228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctgtaactgtcaggccagccCggggagaagagaaacacggg	15	10	1	2	rs560009723		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:16975228C>T	ENST00000377833.4	-	40	6047	c.5982G>A	c.(5980-5982)ccG>ccA	p.P1994P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1994	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G1995C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGCCAGCCCGGGGAGAAGA	0.507													C|||	1	0.000199681	0	0	5008	,	,		17990	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)											98	84	89					10																	16975228		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5982G>A	10.37:g.16975228C>T			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.P1994	ENST00000377833.4	37	c.5982	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.507	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16975228	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	silent	SNP	0.105	T	T	16975228	C	T	16975228	2	4	193	1	0	0	0	0	0	0	0	1	4056	639	23	2		2	CUBN	10	16975228	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		16975228	118559519	203	36863										
ASAH2	56624	genome.wustl.edu	37	chr10	52005193	52005193	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctggagggctttgggtggttGaaaaaaaatggcctcctaaa	13	6	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:52005193G>A	ENST00000395526.4	-	2	148	c.149C>T	c.(148-150)tCa>tTa	p.S50L	ASAH2_ENST00000329428.6_Missense_Mutation_p.S31L|ASAH2_ENST00000447815.1_Missense_Mutation_p.S50L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	50					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						TTGGGTGGTTGAAAAAAAATG	0.473																																																	0													40	48	45					10																	52005193		2203	4300	6503	SO:0001583	missense	56624			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.149C>T	10.37:g.52005193G>A	ENSP00000378897:p.Ser50Leu		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	pfam_Ceramidase_alk	p.S50L	ENST00000395526.4	37	c.149	CCDS7239.2	10	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458120	0.26161	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.32023	1.47;1.48;1.49	5.28	2.26	0.28386	.	2.522110	0.01425	N	0.014507	T	0.19446	0.0467	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17623	-1.0363	10	0.38643	T	0.18	.	8.3209	0.32128	0.2813:0.0:0.7187:0.0	.	50;50	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	L	50;50;31	ENSP00000378897:S50L;ENSP00000388206:S50L;ENSP00000329886:S31L	ENSP00000329886:S31L	S	-	2	0	ASAH2	51675199	0.001000	0.12720	0.001000	0.08648	0.040000	0.13550	0.882000	0.28186	0.806000	0.34183	0.655000	0.94253	TCA	ASAH2	-	NULL		0.473	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH2	HGNC	protein_coding	OTTHUMT00000048061.3	G	NM_019893		52005193	-1	no_errors	ENST00000395526	ensembl	human	known	70_37	missense	SNP	0.000	A	A	52005193	G	A	52005193	3	1	193	1	0	0	0	0	1	0	0	0	1008	1294	45	1	2269	1	ASAH2	10	52005193	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	35029965	52005193	83529554	204	36864										
PCDH15	65217	genome.wustl.edu	37	chr10	55582403	55582403	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agaaagttccaaggaacactCagcaggagaactgatgacat	10	8	1	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:55582403C>G	ENST00000320301.6	-	33	5477	c.5083G>C	c.(5083-5085)Gag>Cag	p.E1695Q	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1692Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1672Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1626Q|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1697Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1655Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1695					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGGAACACTCAGCAGGAGAA	0.418										HNSCC(58;0.16)																																							0													116	115	116					10																	55582403		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5083G>C	10.37:g.55582403C>G	ENSP00000322604:p.Glu1695Gln		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1695Q	ENST00000320301.6	37	c.5083	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823875	0.32237	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56941	0.46;0.43;0.47;0.44;0.44;0.46	4.71	4.71	0.59529	.	.	.	.	.	T	0.41442	0.1159	N	0.14661	0.345	0.25438	N	0.988122	B;B;B;B;P;B;B;B	0.37370	0.437;0.437;0.437;0.437;0.592;0.437;0.437;0.437	B;B;B;B;B;B;B;B	0.37601	0.254;0.184;0.184;0.184;0.184;0.184;0.146;0.184	T	0.46190	-0.9209	9	0.72032	D	0.01	.	17.2256	0.86969	0.0:1.0:0.0:0.0	.	1672;1695;1697;1702;1626;1655;1692;1695	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	Q	1655;1697;1672;1695;1692;1702;1626	ENSP00000378820:E1655Q;ENSP00000354950:E1697Q;ENSP00000378821:E1672Q;ENSP00000322604:E1695Q;ENSP00000378818:E1692Q;ENSP00000412628:E1626Q	ENSP00000322604:E1695Q	E	-	1	0	PCDH15	55252409	0.988000	0.35896	0.665000	0.29768	0.333000	0.28666	2.120000	0.41968	2.162000	0.67917	0.561000	0.74099	GAG	PCDH15	-	NULL		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	C	NM_033056		55582403	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	missense	SNP	0.969	G	G	55582403	C	G	55582403	3	3	193	1	0	0	0	0	1	0	0	0	11535	835	29	1	2394	1	PCDH15	10	55582403	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3577210	55582403	79952344	205	36865										
ZNF365	22891	genome.wustl.edu	37	chr10	64429980	64429980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttcataggcaaattgacaatCatcgatttgttgactgaaca	7	7	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:64429980C>G	ENST00000395251.1	+	7	904	c.570C>G	c.(568-570)atC>atG	p.I190M	ZNF365_ENST00000410046.3_Missense_Mutation_p.I436M|ZNF365_ENST00000395249.1_Missense_Mutation_p.I42M	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	190										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AATTGACAATCATCGATTTGT	0.438																																																	0													260	258	259					10																	64429980		2203	4300	6503	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.570C>G	10.37:g.64429980C>G	ENSP00000378672:p.Ile190Met			Missense_Mutation	SNP	NULL	p.I436M	ENST00000395251.1	37	c.1308	CCDS7265.1	10	.	.	.	.	.	.	.	.	.	.	C	5.796	0.331211	0.10956	.	.	ENSG00000138311	ENST00000410046;ENST00000395251;ENST00000395249	T	0.55052	0.54	2.97	2.04	0.26737	.	.	.	.	.	T	0.42131	0.1189	N	0.08118	0	0.09310	N	1	D;P	0.58268	0.982;0.899	P;B	0.54889	0.763;0.387	T	0.22836	-1.0205	9	0.87932	D	0	.	7.3155	0.26498	0.2615:0.7385:0.0:0.0	.	190;436	Q70YC4;Q70YC5-3	TALAN_HUMAN;.	M	436;190;42	ENSP00000378672:I190M	ENSP00000378670:I42M	I	+	3	3	ZNF365	64099986	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-0.064000	0.11636	0.819000	0.34492	0.460000	0.39030	ATC	ZNF365	-	NULL		0.438	ZNF365-006	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277036.1	C	NM_014951		64429980	1	no_errors	ENST00000410046	ensembl	human	known	70_37	missense	SNP	0.007	G	G	64429980	C	G	64429980	3	3	193	1	0	0	0	0	1	0	0	0	17899	816	29	1	2070	1	ZNF365	10	64429980	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	8847577	64429980	71104767	206	36866										
DNAJC12	56521	genome.wustl.edu	37	chr10	69565485	69565485	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	attttccatcttggtggtatGagtcttgtcagattcttcca	8	8	4	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:69565485G>A	ENST00000225171.2	-	4	510	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	RNU6-1250P_ENST00000391218.1_RNA|DNAJC12_ENST00000483798.2_Missense_Mutation_p.H150Y	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	120										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTGGTGGTATGAGTCTTGTCA	0.383																																																	0													125	128	127					10																	69565485		2203	4300	6503	SO:0001583	missense	56521			AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"Heat shock proteins / DNAJ (HSP40)"	28908	protein-coding gene	gene with protein product	"J domain protein 1"	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.358C>T	10.37:g.69565485G>A	ENSP00000225171:p.His120Tyr		Q5JVQ1|Q9UKB2	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.H120Y	ENST00000225171.2	37	c.358	CCDS7271.1	10	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.377825	0.00207	.	.	ENSG00000108176	ENST00000225171	T	0.31247	1.5	5.72	2.73	0.32206	.	1.118890	0.06595	N	0.752808	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36720	-0.9736	10	0.02654	T	1	-7.8657	3.2478	0.06803	0.1721:0.1451:0.5493:0.1335	.	120	Q9UKB3	DJC12_HUMAN	Y	120	ENSP00000225171:H120Y	ENSP00000225171:H120Y	H	-	1	0	DNAJC12	69235491	0.000000	0.05858	0.073000	0.20177	0.011000	0.07611	0.468000	0.22051	1.385000	0.46445	0.655000	0.94253	CAT	DNAJC12	-	NULL		0.383	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC12	HGNC	protein_coding	OTTHUMT00000048291.1	G	NM_021800		69565485	-1	no_errors	ENST00000225171	ensembl	human	known	70_37	missense	SNP	0.000	A	A	69565485	G	A	69565485	3	1	193	1	0	0	0	0	1	0	0	0	4641	1290	45	1	246	1	DNAJC12	10	69565485	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	5135505	69565485	65969262	207	36867										
PLA2G12B	84647	genome.wustl.edu	37	chr10	74695398	74695398	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	taactcttccttctcctcctCtgcacagatgcaagctgccc	5	17	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:74695398C>G	ENST00000373032.3	-	4	657	c.565G>C	c.(565-567)Gag>Cag	p.E189Q		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	189					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TTCTCCTCCTCTGCACAGATG	0.522																																																	0													149	126	134					10																	74695398		2203	4300	6503	SO:0001583	missense	84647			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"phospholipase A2, group XIII"	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.565G>C	10.37:g.74695398C>G	ENSP00000362123:p.Glu189Gln		B7ZL23|Q52LB2|Q96Q99	Missense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2	p.E189Q	ENST00000373032.3	37	c.565	CCDS7319.1	10	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911274	0.52439	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.96	5.96	0.96718	.	0.046764	0.85682	D	0.000000	T	0.74772	0.3760	L	0.51422	1.61	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	T	0.67741	-0.5592	9	0.26408	T	0.33	-7.8485	20.4008	0.98991	0.0:1.0:0.0:0.0	.	188;189	B7ZL23;Q9BX93	.;PG12B_HUMAN	Q	189	.	ENSP00000362123:E189Q	E	-	1	0	PLA2G12B	74365404	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GAG	PLA2G12B	-	pfam_PLipase_A2_secretory_G12		0.522	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	HGNC	protein_coding	OTTHUMT00000048598.1	C	NM_032562		74695398	-1	no_errors	ENST00000373032	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74695398	C	G	74695398	3	3	193	1	0	0	0	0	1	0	0	0	12015	922	32	1	26	1	PLA2G12B	10	74695398	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	5129913	74695398	60839349	208	36868										
TTC18	118491	genome.wustl.edu	37	chr10	75071636	75071636	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agggggttcaccttccaaagGagtatctgagctctgagatt	12	8	3	2	rs115761754	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:75071636G>C	ENST00000310715.3	-	12	1450	c.1330C>G	c.(1330-1332)Cct>Gct	p.P444A	TTC18_ENST00000401621.2_Missense_Mutation_p.P444A|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.P444A	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		444						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCTTCCAAAGGAGTATCTGAG	0.378																																																	0													150	161	157					10																	75071636		2203	4300	6503	SO:0001583	missense	118491																														ENST00000310715.3:c.1330C>G	10.37:g.75071636G>C	ENSP00000310829:p.Pro444Ala		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P444A	ENST00000310715.3	37	c.1330	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	G	2.996	-0.207058	0.06180	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	T;T;T	0.28666	2.02;2.02;1.6	4.92	4.0	0.46444	.	0.181729	0.35349	N	0.003278	T	0.22742	0.0549	L	0.40543	1.245	0.34644	D	0.720956	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.22138	-1.0225	10	0.11794	T	0.64	-23.016	11.2252	0.48880	0.0:0.1857:0.8143:0.0	.	444;444	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	A	444	ENSP00000310829:P444A;ENSP00000384479:P444A;ENSP00000378334:P444A	ENSP00000310829:P444A	P	-	1	0	TTC18	74741642	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	1.789000	0.38724	1.051000	0.40369	0.563000	0.77884	CCT	TTC18	-	NULL		0.378	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		G			75071636	-1	no_errors	ENST00000310715	ensembl	human	known	70_37	missense	SNP	0.989	C	C	75071636	G	C	75071636	3	2	193	1	0	0	0	0	1	0	0	0	16716	1174	41	1	2103	1	TTC18	10	75071636	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	376238	75071636	60463111	209	36869										
DYDC2	84332	genome.wustl.edu	37	chr10	82126684	82126684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aagttgctcatgaaatgcctCctggctccaaatctcctttt	6	12	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:82126684C>T	ENST00000372199.1	+	6	1109	c.511C>T	c.(511-513)Cct>Tct	p.P171S	DYDC2_ENST00000444807.2_Missense_Mutation_p.P171S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P171S|DYDC2_ENST00000372198.1_Missense_Mutation_p.P185S|DYDC2_ENST00000372197.1_Missense_Mutation_p.P171S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	171										breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			TGAAATGCCTCCTGGCTCCAA	0.418																																																	0													110	119	116					10																	82126684		2201	4300	6501	SO:0001583	missense	84332			BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.511C>T	10.37:g.82126684C>T	ENSP00000361273:p.Pro171Ser		D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	pfam_Dpy-30_motif	p.P185S	ENST00000372199.1	37	c.553	CCDS7367.1	10	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274079	0.23221	.	.	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000256039	T;T;T;T;T	0.61158	0.24;0.13;0.24;0.24;0.24	4.21	-3.06	0.05379	.	2.368460	0.01752	N	0.029962	T	0.34483	0.0899	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.13361	-1.0512	10	0.13108	T	0.6	0.4907	5.7311	0.18040	0.0:0.2655:0.1554:0.5791	.	171	Q96IM9	DYDC2_HUMAN	S	171;185;171;171;171	ENSP00000361273:P171S;ENSP00000361272:P185S;ENSP00000361271:P171S;ENSP00000410285:P171S;ENSP00000256039:P171S	ENSP00000256039:P171S	P	+	1	0	DYDC2	82116664	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	-0.506000	0.06359	-0.596000	0.05821	-0.982000	0.02568	CCT	DYDC2	-	NULL		0.418	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYDC2	HGNC	protein_coding	OTTHUMT00000049063.1	C	NM_032372		82126684	1	no_errors	ENST00000372198	ensembl	human	known	70_37	missense	SNP	0.000	T	T	82126684	C	T	82126684	3	4	193	1	0	0	0	0	1	0	0	0	4849	855	30	1	521	1	DYDC2	10	82126684	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	7055048	82126684	53408063	210	36870										
CDHR1	92211	genome.wustl.edu	37	chr10	85970835	85970835	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tccagctcctggacaccaatGacaatgtccccaagttcgac	7	15	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:85970835G>A	ENST00000372117.3	+	13	1502	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	CDHR1_ENST00000440770.2_Intron|CDHR1_ENST00000332904.3_Missense_Mutation_p.D467N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	467	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGACACCAATGACAATGTCCC	0.577																																																	0													127	122	123					10																	85970835		2203	4300	6503	SO:0001583	missense	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1399G>A	10.37:g.85970835G>A	ENSP00000361189:p.Asp467Asn		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D467N	ENST00000372117.3	37	c.1399	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995945	0.93167	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.71579	-0.58;-0.58	5.79	5.79	0.91817	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.955;1.0	D	0.91849	0.5490	10	0.72032	D	0.01	-5.3462	18.8083	0.92047	0.0:0.0:1.0:0.0	.	467;467	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	N	467	ENSP00000331063:D467N;ENSP00000361189:D467N	ENSP00000331063:D467N	D	+	1	0	CDHR1	85960815	1.000000	0.71417	0.993000	0.49108	0.634000	0.38068	9.383000	0.97214	2.735000	0.93741	0.563000	0.77884	GAC	CDHR1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.577	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	G	NM_033100		85970835	1	no_errors	ENST00000372117	ensembl	human	known	70_37	missense	SNP	1.000	A	A	85970835	G	A	85970835	3	1	193	1	0	0	0	0	1	0	0	0	3123	1290	45	1	1449	1	CDHR1	10	85970835	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3844151	85970835	49563912	211	36871										
MMRN2	79812	genome.wustl.edu	37	chr10	88703291	88703291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgaaagtctcgtccgattcgGagtacagttccttgatctca	9	11	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:88703291G>A	ENST00000372027.5	-	6	1571	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	417					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GTCCGATTCGGAGTACAGTTC	0.612																																																	0													148	108	122					10																	88703291		2203	4300	6503	SO:0001583	missense	79812			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1250C>T	10.37:g.88703291G>A	ENSP00000361097:p.Ser417Phe		Q504V7|Q6P2N2	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like,superfamily_tRNA-bd_arm,smart_C1q,pfscan_C1q,pfscan_EMI_domain,prints_C1q	p.S417F	ENST00000372027.5	37	c.1250	CCDS7379.1	10	.	.	.	.	.	.	.	.	.	.	G	4.338	0.062167	0.08388	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.71461	-0.57	4.96	1.56	0.23342	.	0.750232	0.12223	N	0.488164	T	0.60663	0.2286	L	0.56769	1.78	0.09310	N	1	P;P;P	0.35272	0.493;0.493;0.493	B;B;B	0.32928	0.074;0.155;0.107	T	0.54702	-0.8254	10	0.56958	D	0.05	-7.6511	4.2957	0.10901	0.3447:0.0:0.4954:0.1598	.	195;356;417	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	F	417;195	ENSP00000361097:S417F	ENSP00000361097:S417F	S	-	2	0	MMRN2	88693271	0.006000	0.16342	0.112000	0.21494	0.691000	0.40173	0.500000	0.22562	0.496000	0.27904	0.462000	0.41574	TCC	MMRN2	-	NULL		0.612	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	G	NM_024756		88703291	-1	no_errors	ENST00000372027	ensembl	human	known	70_37	missense	SNP	0.002	A	A	88703291	G	A	88703291	3	1	193	1	0	0	0	0	1	0	0	0	9694	1174	41	1	1607	1	MMRN2	10	88703291	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2732456	88703291	46831456	212	36872										
PANK1	53354	genome.wustl.edu	37	chr10	91404972	91404972	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atccccaggccgcgcgacttCaaacgcggcttcctcgcctc	9	19	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:91404972C>G	ENST00000307534.4	-	1	243	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	RP11-80H5.6_ENST00000428166.1_lincRNA|RP11-80H5.2_ENST00000454174.1_RNA|PANK1_ENST00000322191.6_5'Flank|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000342512.3_5'Flank|PANK1_ENST00000371774.2_5'Flank|RP11-80H5.2_ENST00000451733.1_RNA	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	30					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CGCGCGACTTCAAACGCGGCT	0.711																																																	0													10	12	11					10																	91404972		1731	3643	5374	SO:0001583	missense	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.88G>C	10.37:g.91404972C>G	ENSP00000302108:p.Glu30Gln		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.E30Q	ENST00000307534.4	37	c.88	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571848	0.86542	.	.	ENSG00000152782	ENST00000307534	D	0.99656	-6.31	4.55	3.62	0.41486	.	0.000000	0.36932	N	0.002333	D	0.96972	0.9011	N	0.14661	0.345	0.80722	D	1	P	0.43392	0.805	B	0.38378	0.272	D	0.95919	0.8929	10	0.31617	T	0.26	.	8.6303	0.33915	0.0:0.8932:0.0:0.1068	.	30	Q8TE04	PANK1_HUMAN	Q	30	ENSP00000302108:E30Q	ENSP00000302108:E30Q	E	-	1	0	PANK1	91394952	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.558000	0.45879	2.345000	0.79718	0.655000	0.94253	GAA	PANK1	-	NULL		0.711	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding		C			91404972	-1	no_errors	ENST00000307534	ensembl	human	known	70_37	missense	SNP	1.000	G	G	91404972	C	G	91404972	3	3	193	1	0	0	0	0	1	0	0	0	11440	835	29	1	1768	1	PANK1	10	91404972	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2701681	91404972	44129775	213	36873										
PLCE1	51196	genome.wustl.edu	37	chr10	96025689	96025689	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgggccatcagctcaaaggaGaatcctcggtagaactctac	10	12	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:96025689G>C	ENST00000371380.3	+	15	4490	c.4255G>C	c.(4255-4257)Gaa>Caa	p.E1419Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.E1111Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1419Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1111Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1419	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTCAAAGGAGAATCCTCGGT	0.423																																																	0													93	93	93					10																	96025689		1888	4111	5999	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4255G>C	10.37:g.96025689G>C	ENSP00000360431:p.Glu1419Gln		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.E1419Q	ENST00000371380.3	37	c.4255	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750602	0.89753	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.97	5.97	0.96955	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.386119	0.29266	N	0.012659	T	0.79417	0.4442	M	0.66439	2.03	0.51767	D	0.999939	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.995;0.999	T	0.78142	-0.2319	10	0.54805	T	0.06	.	20.0428	0.97598	0.0:0.0:1.0:0.0	.	1403;1111;1419	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	1419;1419;1111;1111	ENSP00000260766:E1419Q;ENSP00000360431:E1419Q;ENSP00000360438:E1111Q;ENSP00000360426:E1111Q	ENSP00000260766:E1419Q	E	+	1	0	PLCE1	96015679	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.827000	0.99397	2.833000	0.97629	0.585000	0.79938	GAA	PLCE1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96025689	1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	C	C	96025689	G	C	96025689	3	2	193	1	0	0	0	0	1	0	0	0	12058	943	33	1	4599	1	PLCE1	10	96025689	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4620717	96025689	39509058	214	36874										
HPSE2	60495	genome.wustl.edu	37	chr10	100249925	100249925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agactttggggccgatcaggCgcttgtagaggagagagagc	17	7	1	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:100249925C>T	ENST00000370552.3	-	10	1408	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	HPSE2_ENST00000370546.1_Missense_Mutation_p.R450H|HPSE2_ENST00000370549.1_Missense_Mutation_p.R392H|HPSE2_ENST00000404542.1_Missense_Mutation_p.R338H	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	450					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCCGATCAGGCGCTTGTAGAG	0.557																																																	0													81	82	82					10																	100249925		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1349G>A	10.37:g.100249925C>T	ENSP00000359583:p.Arg450His		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.R450H	ENST00000370552.3	37	c.1349	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332532	0.60853	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.82	5.82	0.92795	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.065719	0.64402	D	0.000012	T	0.32102	0.0818	L	0.48935	1.535	0.42422	D	0.992648	B;B;B;B	0.28667	0.01;0.219;0.054;0.032	B;B;B;B	0.21360	0.005;0.034;0.017;0.007	T	0.09618	-1.0666	10	0.56958	D	0.05	-8.8517	13.3123	0.60386	0.0:0.9279:0.0:0.0721	.	338;450;392;450	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	H	450;392;450;338	ENSP00000359583:R450H;ENSP00000359580:R392H;ENSP00000359577:R450H;ENSP00000384384:R338H	ENSP00000359577:R450H	R	-	2	0	HPSE2	100239915	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	3.720000	0.54933	2.755000	0.94549	0.591000	0.81541	CGC	HPSE2	-	superfamily_Glycoside_hydrolase_SF		0.557	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	C	NM_021828		100249925	-1	no_errors	ENST00000370552	ensembl	human	known	70_37	missense	SNP	0.999	T	T	100249925	C	T	100249925	3	4	193	1	0	0	0	0	1	0	0	0	7365	768	27	2	479	2	HPSE2	10	100249925	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4224236	100249925	35284822	215	36875										
C10orf2	56652	genome.wustl.edu	37	chr10	102753198	102753198	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaaaagggggctacgacacaGaactctgagatttgctcagg	12	8	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:102753198G>A	ENST00000311916.2	+	5	2171	c.1986G>A	c.(1984-1986)caG>caA	p.Q662Q	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	662					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTACGACACAGAACTCTGAGA	0.557																																																	0													61	67	65					10																	102753198		2203	4300	6503	SO:0001819	synonymous_variant	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1986G>A	10.37:g.102753198G>A			B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Silent	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.Q662	ENST00000311916.2	37	c.1986	CCDS7506.1	10																																																																																			C10orf2	-	NULL		0.557	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	G	NM_021830		102753198	1	no_errors	ENST00000311916	ensembl	human	known	70_37	silent	SNP	0.955	A	A	102753198	G	A	102753198	2	1	193	1	0	0	0	0	0	0	0	1	1601	933	33	1		1	C10orf2	10	102753198	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2503273	102753198	32781549	216	36876										
PDZD7	79955	genome.wustl.edu	37	chr10	102780424	102780424	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atctccttgtaggcaggataCcggccggtctcctggggagg	15	11	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:102780424C>A	ENST00000370215.3	-	7	1104	c.879G>T	c.(877-879)cgG>cgT	p.R293R		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	293	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGCAGGATACCGGCCGGTCT	0.602																																																	0													59	56	57					10																	102780424		2203	4300	6503	SO:0001819	synonymous_variant	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.879G>T	10.37:g.102780424C>A			D5FJ77|Q8N321	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R293	ENST00000370215.3	37	c.879	CCDS31269.1	10																																																																																			PDZD7	-	superfamily_PDZ		0.602	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	C	NM_024895		102780424	-1	no_errors	ENST00000370215	ensembl	human	known	70_37	silent	SNP	0.962	A	A	102780424	C	A	102780424	2	1	193	1	0	0	0	0	0	0	0	1	11728	494	18	4		4	PDZD7	10	102780424	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	27226	102780424	32754323	217	36877										
HPS6	79803	genome.wustl.edu	37	chr10	103826424	103826424	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acagggtgttgagttgccttCagccaaggatctggtgtttg	14	7	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:103826424C>T	ENST00000299238.5	+	1	1278	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	398					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GAGTTGCCTTCAGCCAAGGAT	0.592									Hermansky-Pudlak syndrome																																								0													45	46	46					10																	103826424		2202	4300	6502	SO:0001583	missense	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1193C>T	10.37:g.103826424C>T	ENSP00000299238:p.Ser398Leu		Q5VV69|Q9H685	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps6_subunit	p.S398L	ENST00000299238.5	37	c.1193	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	C	2.958	-0.215228	0.06101	.	.	ENSG00000166189	ENST00000299238	T	0.79141	-1.24	4.78	1.81	0.25067	.	0.503475	0.20475	N	0.091610	T	0.53899	0.1825	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.27123	-1.0083	10	0.20046	T	0.44	-8.8677	4.4459	0.11597	0.0:0.6133:0.1856:0.2011	.	398	Q86YV9	HPS6_HUMAN	L	398	ENSP00000299238:S398L	ENSP00000299238:S398L	S	+	2	0	HPS6	103816414	0.011000	0.17503	0.645000	0.29479	0.862000	0.49288	1.062000	0.30555	1.242000	0.43836	-0.224000	0.12420	TCA	HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit		0.592	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2	C	NM_024747		103826424	1	no_errors	ENST00000299238	ensembl	human	known	70_37	missense	SNP	0.008	T	T	103826424	C	T	103826424	3	4	193	1	0	0	0	0	1	0	0	0	7363	838	29	1	1195	1	HPS6	10	103826424	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1046000	103826424	31708323	218	36878										
CUEDC2	79004	genome.wustl.edu	37	chr10	104184490	104184490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agttctcctctgatgggcccGaggggcccaggtcctccagg	14	14	2	1	rs201349133		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:104184490G>A	ENST00000369937.4	-	3	279	c.134C>T	c.(133-135)tCg>tTg	p.S45L	CUEDC2_ENST00000465409.1_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587																																																	0													55	59	58					10																	104184490		1902	4121	6023	SO:0001583	missense	79004			BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"chromosome 10 open reading frame 66"	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.134C>T	10.37:g.104184490G>A	ENSP00000358953:p.Ser45Leu		D3DR88|Q9BWG8	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,pfscan_CUE	p.S45L	ENST00000369937.4	37	c.134	CCDS41566.1	10	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543269	0.45280	.	.	ENSG00000107874	ENST00000369937	D	0.86030	-2.06	5.36	4.46	0.54185	.	0.193649	0.45361	D	0.000376	T	0.67373	0.2886	N	0.19112	0.55	0.31889	N	0.617433	D	0.54047	0.964	B	0.31191	0.125	T	0.74077	-0.3781	10	0.51188	T	0.08	-1.2319	8.4217	0.32705	0.078:0.0:0.7691:0.1529	.	45	Q9H467	CUED2_HUMAN	L	45	ENSP00000358953:S45L	ENSP00000358953:S45L	S	-	2	0	CUEDC2	104174480	1.000000	0.71417	0.830000	0.32933	0.986000	0.74619	5.468000	0.66743	1.410000	0.46936	0.561000	0.74099	TCG	CUEDC2	-	NULL		0.587	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC2	HGNC	protein_coding	OTTHUMT00000050060.1	G	NM_024040		104184490	-1	no_errors	ENST00000369937	ensembl	human	known	70_37	missense	SNP	0.992	A	A	104184490	G	A	104184490	3	1	193	1	0	0	0	0	1	0	0	0	4058	1059	37	1	757	1	CUEDC2	10	104184490	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	358066	104184490	31350257	219	36879										
WDR11	55717	genome.wustl.edu	37	chr10	122664255	122664255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tttagtcactactgtcacctCgtcaggcccctctcagagca	7	15	4	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:122664255C>T	ENST00000263461.6	+	25	3371	c.3125C>T	c.(3124-3126)tCg>tTg	p.S1042L	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ACTGTCACCTCGTCAGGCCCC	0.453																																																	0													140	126	131					10																	122664255		2203	4300	6503	SO:0001583	missense	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3125C>T	10.37:g.122664255C>T	ENSP00000263461:p.Ser1042Leu		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S1042L	ENST00000263461.6	37	c.3125	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.302890	0.95601	.	.	ENSG00000120008	ENST00000263461	D	0.92595	-3.07	5.97	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.95701	0.8602	M	0.80183	2.485	0.58432	D	0.999998	B;B;D;B	0.89917	0.004;0.004;1.0;0.001	B;B;D;B	0.66847	0.001;0.002;0.947;0.001	D	0.95892	0.8908	10	0.59425	D	0.04	-10.4783	15.1845	0.72989	0.0:0.9328:0.0:0.0672	.	1042;1042;333;571	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	L	1042	ENSP00000263461:S1042L	ENSP00000263461:S1042L	S	+	2	0	WDR11	122654245	1.000000	0.71417	0.887000	0.34795	0.990000	0.78478	7.456000	0.80751	1.541000	0.49316	0.655000	0.94253	TCG	WDR11	-	NULL		0.453	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	C			122664255	1	no_errors	ENST00000263461	ensembl	human	known	70_37	missense	SNP	1.000	T	T	122664255	C	T	122664255	3	4	193	1	0	0	0	0	1	0	0	0	17304	893	31	1	3223	1	WDR11	10	122664255	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	18479765	122664255	12870492	220	36880										
JAKMIP3	282973	genome.wustl.edu	37	chr10	133946876	133946876	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tggagagagagttaggggttCaagccgggcatgctcagaga	17	6	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:133946876C>T	ENST00000298622.4	+	3	832	c.694C>T	c.(694-696)Caa>Taa	p.Q232*		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	232						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTTAGGGGTTCAAGCCGGGCA	0.562																																																	0													40	43	42					10																	133946876		1960	4139	6099	SO:0001587	stop_gained	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.694C>T	10.37:g.133946876C>T	ENSP00000298622:p.Gln232*		A6PW00|Q69YM6|Q6ZT29	Nonsense_Mutation	SNP	NULL	p.Q232*	ENST00000298622.4	37	c.694	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.696644	0.97772	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-13.1541	17.3619	0.87353	0.0:1.0:0.0:0.0	.	.	.	.	X	232	.	ENSP00000298622:Q232X	Q	+	1	0	JAKMIP3	133796866	0.920000	0.31207	0.957000	0.39632	0.995000	0.86356	2.009000	0.40903	2.328000	0.79073	0.563000	0.77884	CAA	JAKMIP3	-	NULL		0.562	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	C	NM_194303		133946876	1	no_errors	ENST00000298622	ensembl	human	known	70_37	nonsense	SNP	0.987	T	T	133946876	C	T	133946876	4	4	193	1	0	0	0	0	0	1	0	0	7962	827	29	1	704	1	JAKMIP3	10	133946876	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	11282621	133946876	1587871	221	36881										
AP2A2	161	genome.wustl.edu	37	chr11	1008096	1008096	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggtcaacatagagtgcgtgtCcgacttcacggaggcgccag	14	11	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:1008096C>G	ENST00000448903.2	+	18	2522	c.2381C>G	c.(2380-2382)tCc>tGc	p.S794C	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.S795C	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	794					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAGTGCGTGTCCGACTTCACG	0.652																																																	0													31	37	35					11																	1008096		2075	4182	6257	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2381C>G	11.37:g.1008096C>G	ENSP00000413234:p.Ser794Cys		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.S795C	ENST00000448903.2	37	c.2384	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020433	0.35606	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.46819	0.86;0.86	4.12	2.07	0.26955	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.423937	0.24251	N	0.040172	T	0.39436	0.1078	L	0.52573	1.65	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.36962	-0.9726	10	0.59425	D	0.04	-25.6687	9.3511	0.38138	0.1535:0.5491:0.2974:0.0	.	794	O94973	AP2A2_HUMAN	C	794;795;531;534	ENSP00000413234:S794C;ENSP00000327694:S795C	ENSP00000327694:S795C	S	+	2	0	AP2A2	998096	0.000000	0.05858	0.042000	0.18584	0.579000	0.36224	1.084000	0.30828	0.404000	0.25506	0.185000	0.17295	TCC	AP2A2	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu		0.652	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	C	NM_012305		1008096	1	no_errors	ENST00000332231	ensembl	human	known	70_37	missense	SNP	0.044	G	G	1008096	C	G	1008096	3	3	193	1	0	0	0	0	1	0	0	0	740	855	30	1	2451	1	AP2A2	11	1008096	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		1008096	133998420	222	36882										
MOB2	81532	genome.wustl.edu	37	chr11	1492613	1492613	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tactgtggggccgtgcacttGaccttcttcccccgctcgtc	10	16	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:1492613G>A	ENST00000329957.6	-	4	591	c.402C>T	c.(400-402)gtC>gtT	p.V134V	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	103					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						CCGTGCACTTGACCTTCTTCC	0.602																																																	0													113	129	124					11																	1492613		2166	4248	6414	SO:0001819	synonymous_variant	81532				CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.402C>T	11.37:g.1492613G>A			B4DKP3|Q96M67	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.V134	ENST00000329957.6	37	c.402	CCDS53591.1	11																																																																																			MOB2	-	pfam_Mob1_phocein,superfamily_Mob1_phocein		0.602	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MOB2	HGNC	protein_coding	OTTHUMT00000384770.1	G	NM_053005		1492613	-1	no_errors	ENST00000329957	ensembl	human	novel	70_37	silent	SNP	0.998	A	A	1492613	G	A	1492613	2	1	193	1	0	0	0	0	0	0	0	1	9704	1277	45	1		1	MOB2	11	1492613	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	484517	1492613	133513903	223	36883										
RRM1	6240	genome.wustl.edu	37	chr11	4142936	4142936	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggaagagcagcgtgccagaGatcttttctttgctctttgg	12	8	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:4142936G>T	ENST00000300738.5	+	10	1183	c.979G>T	c.(979-981)Gat>Tat	p.D327Y	RRM1_ENST00000534285.1_Missense_Mutation_p.D105Y|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000423050.2_Missense_Mutation_p.D230Y|RRM1_ENST00000537197.1_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	327					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GCGTGCCAGAGATCTTTTCTT	0.423																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)												0													117	124	122					11																	4142936		2201	4298	6499	SO:0001583	missense	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.979G>T	11.37:g.4142936G>T	ENSP00000300738:p.Asp327Tyr		Q9UNN2	Missense_Mutation	SNP	pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA	p.D327Y	ENST00000300738.5	37	c.979	CCDS7750.1	11	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684537	0.88639	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838	T;T;T	0.48201	0.82;0.82;0.82	5.4	5.4	0.78164	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81823	0.4904	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89155	0.3526	10	0.87932	D	0	-20.123	18.1585	0.89701	0.0:0.0:1.0:0.0	.	327	P23921	RIR1_HUMAN	Y	327;230;240;105;105	ENSP00000300738:D327Y;ENSP00000390539:D230Y;ENSP00000431464:D105Y	ENSP00000300738:D327Y	D	+	1	0	RRM1	4099512	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.509000	0.84616	0.650000	0.86243	GAT	RRM1	-	pfam_RNR_lg_C,tigrfam_NrdE_NrdA		0.423	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM1	HGNC	protein_coding	OTTHUMT00000257197.1	G	NM_001033		4142936	1	no_errors	ENST00000300738	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4142936	G	T	4142936	3	4	193	1	0	0	0	0	1	0	0	0	13711	942	33	3	1017	3	RRM1	11	4142936	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2650323	4142936	130863580	224	36884										
OR51F2	119694	genome.wustl.edu	37	chr11	4843349	4843349	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgtcctcagcattgcttcctCagaagagaggcggaaagcct	11	11	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:4843349C>T	ENST00000322110.5	+	1	799	c.734C>T	c.(733-735)tCa>tTa	p.S245L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGCTTCCTCAGAAGAGAGG	0.493																																																	0													201	151	168					11																	4843349		2201	4298	6499	SO:0001583	missense	119694			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.734C>T	11.37:g.4843349C>T	ENSP00000323952:p.Ser245Leu		Q6IFI1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S245L	ENST00000322110.5	37	c.734	CCDS31361.1	11	.	.	.	.	.	.	.	.	.	.	C	5.446	0.267336	0.10294	.	.	ENSG00000176925	ENST00000322110	T	0.00084	8.75	4.61	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.748976	0.10881	U	0.623750	T	0.00144	0.0004	L	0.45137	1.4	0.09310	N	1	B	0.19583	0.037	B	0.24006	0.05	T	0.16778	-1.0391	10	0.27785	T	0.31	.	5.129	0.14899	0.297:0.5924:0.0:0.1106	.	245	Q8NH61	O51F2_HUMAN	L	245	ENSP00000323952:S245L	ENSP00000323952:S245L	S	+	2	0	OR51F2	4799925	0.000000	0.05858	0.589000	0.28718	0.196000	0.23810	-0.546000	0.06062	1.174000	0.42811	0.561000	0.74099	TCA	OR51F2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51F2	HGNC	protein_coding	OTTHUMT00000142181.1	C	NM_001004753		4843349	1	no_errors	ENST00000322110	ensembl	human	known	70_37	missense	SNP	0.013	T	T	4843349	C	T	4843349	3	4	193	1	0	0	0	0	1	0	0	0	11121	838	29	1	736	1	OR51F2	11	4843349	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	700413	4843349	130163167	225	36885										
OR5P3	120066	genome.wustl.edu	37	chr11	7846834	7846834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgtggcggcccttggtggagTgcatcttcaggatggtgatg	17	7	2	1	rs139657716	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:7846834T>C	ENST00000328375.1	-	1	685	c.686A>G	c.(685-687)cAc>cGc	p.H229R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTGGTGGAGTGCATCTTCAG	0.488																																																	0								T	ARG/HIS	4,4370	8.1+/-20.4	0,4,2183	105	88	94		686	-2.1	0	11	dbSNP_134	94	0,8592		0,0,4296	no	missense	OR5P3	NM_153445.1	29	0,4,6479	CC,CT,TT		0.0,0.0914,0.0308	benign	229/312	7846834	4,12962	2187	4296	6483	SO:0001583	missense	120066			AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"GPCR / Class A : Olfactory receptors"	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.686A>G	11.37:g.7846834T>C	ENSP00000332068:p.His229Arg		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H229R	ENST00000328375.1	37	c.686	CCDS7783.1	11	.	.	.	.	.	.	.	.	.	.	t	0.001	-2.992268	0.00045	9.14E-4	0.0	ENSG00000182334	ENST00000328375	T	0.34472	1.36	5.12	-2.08	0.07254	GPCR, rhodopsin-like superfamily (1);	0.519441	0.17795	N	0.161771	T	0.11793	0.0287	N	0.05280	-0.08	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.33033	-0.9884	10	0.02654	T	1	-0.7651	7.2361	0.26070	0.0:0.5111:0.1137:0.3751	.	229	Q8WZ94	OR5P3_HUMAN	R	229	ENSP00000332068:H229R	ENSP00000332068:H229R	H	-	2	0	OR5P3	7803410	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-3.151000	0.00582	-0.615000	0.05679	-2.499000	0.00192	CAC	OR5P3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P3	HGNC	protein_coding	OTTHUMT00000385697.1	T	NM_153445		7846834	-1	no_errors	ENST00000328375	ensembl	human	known	70_37	missense	SNP	0.000	C	C	7846834	T	C	7846834	3	2	193	1	0	0	0	0	1	0	0	0	11203	1696	59	5	252	5	OR5P3	11	7846834	Missense_Mutation	SNP	T	TCGA-UC-A7PF-01A-11D-A351-09	3003485	7846834	127159682	226	36886										
LDHAL6A	160287	genome.wustl.edu	37	chr11	18485562	18485562	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atgaaggcaaactgaagggtGagacaatggatcttcaacat	11	6	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:18485562G>A	ENST00000280706.2	+	2	978	c.181G>A	c.(181-183)Gag>Aag	p.E61K	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.E61K	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	61					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						ACTGAAGGGTGAGACAATGGA	0.363																																																	0													167	140	150					11																	18485562		2199	4293	6492	SO:0001583	missense	160287			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.181G>A	11.37:g.18485562G>A	ENSP00000280706:p.Glu61Lys		D3DQY5	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.E61K	ENST00000280706.2	37	c.181	CCDS7841.1	11	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637568	0.87760	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.91945	-2.94;-2.94	3.95	3.95	0.45737	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000011	D	0.94719	0.8296	L	0.56396	1.775	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95315	0.8415	10	0.87932	D	0	.	14.6094	0.68504	0.0:0.0:1.0:0.0	.	61	Q6ZMR3	LDH6A_HUMAN	K	61	ENSP00000379516:E61K;ENSP00000280706:E61K	ENSP00000280706:E61K	E	+	1	0	LDHAL6A	18442138	1.000000	0.71417	0.719000	0.30619	0.972000	0.66771	3.864000	0.56024	1.764000	0.52075	0.655000	0.94253	GAG	LDHAL6A	-	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.363	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHAL6A	HGNC	protein_coding	OTTHUMT00000395904.1	G	NM_144972		18485562	1	no_errors	ENST00000280706	ensembl	human	known	70_37	missense	SNP	1.000	A	A	18485562	G	A	18485562	3	1	193	1	0	0	0	0	1	0	0	0	8719	1291	45	1	187	1	LDHAL6A	11	18485562	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	10638728	18485562	116520954	227	36887										
CCDC73	493860	genome.wustl.edu	37	chr11	32697502	32697502	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gttattgtggcataatatttCtcaatttcactcagttgctt	6	7	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:32697502C>G	ENST00000335185.5	-	8	538	c.495G>C	c.(493-495)gaG>gaC	p.E165D	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	165										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CATAATATTTCTCAATTTCAC	0.284																																																	0													165	158	160					11																	32697502		1842	4075	5917	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.495G>C	11.37:g.32697502C>G	ENSP00000335325:p.Glu165Asp		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.E165D	ENST00000335185.5	37	c.495	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569920	0.65765	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.89	4.01	0.46588	.	.	.	.	.	T	0.68668	0.3026	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.68116	-0.5494	8	0.62326	D	0.03	.	8.166	0.31226	0.0:0.6981:0.0:0.3018	.	165;165	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	D	165	.	ENSP00000335325:E165D	E	-	3	2	CCDC73	32654078	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.423000	0.34837	0.814000	0.34374	0.585000	0.79938	GAG	CCDC73	-	NULL		0.284	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	C	NM_001008391		32697502	-1	no_errors	ENST00000335185	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32697502	C	G	32697502	3	3	193	1	0	0	0	0	1	0	0	0	2851	912	32	1	2788	1	CCDC73	11	32697502	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	14211940	32697502	102309014	228	36888										
C11orf41	25758	genome.wustl.edu	37	chr11	33682526	33682526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggcctggatgtcctatgcagGagagaatgagctcccgagcc	14	11	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:33682526G>A	ENST00000321505.4	+	19	5414	c.5234G>A	c.(5233-5235)gGa>gAa	p.G1745E	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1751E			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1745						integral component of membrane (GO:0016021)											TCCTATGCAGGAGAGAATGAG	0.517																																																	0													33	37	35					11																	33682526		1939	4144	6083	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5234G>A	11.37:g.33682526G>A	ENSP00000315295:p.Gly1745Glu		B0QYU0	Missense_Mutation	SNP	NULL	p.G1751E	ENST00000321505.4	37	c.5252	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265077	0.59431	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	4.86	4.86	0.63082	.	0.227895	0.29715	N	0.011393	T	0.51652	0.1687	N	0.19112	0.55	0.34256	D	0.679364	D	0.59767	0.986	P	0.54060	0.741	T	0.66779	-0.5837	9	0.66056	D	0.02	.	16.1908	0.81987	0.0:0.0:1.0:0.0	.	1751	E9PAT2	.	E	1745;1751;1584	.	ENSP00000315295:G1745E	G	+	2	0	C11orf41	33639102	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.807000	0.75201	2.250000	0.74265	0.491000	0.48974	GGA	KIAA1549L	-	NULL		0.517	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	G	NM_012194		33682526	1	no_errors	ENST00000389726	ensembl	human	known	70_37	missense	SNP	1.000	A	A	33682526	G	A	33682526	3	1	193	1	0	0	0	0	1	0	0	0	1644	1174	41	1	5326	1	C11orf41	11	33682526	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	985024	33682526	101323990	229	36889										
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57077101	57077101	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acgtgggcagtgctaggactGaacaagcccccggatcctct	12	13	1	1	rs141870467		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:57077101G>A	ENST00000532437.1	-	5	3395	c.3084C>T	c.(3082-3084)ttC>ttT	p.F1028F	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.F1028F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1028	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCTAGGACTGAACAAGCCCC	0.597																																																	0													68	68	68					11																	57077101		2201	4296	6497	SO:0001819	synonymous_variant	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3084C>T	11.37:g.57077101G>A			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.F1028	ENST00000532437.1	37	c.3084	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL		0.597	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	G	NM_033396		57077101	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	silent	SNP	0.000	A	A	57077101	G	A	57077101	2	1	193	1	0	0	0	0	0	0	0	1	16350	1281	45	1		1	TNKS1BP1	11	57077101	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	23394575	57077101	77929415	230	36890										
CLP1	10978	genome.wustl.edu	37	chr11	57427146	57427146	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggtgccaaggtggctgttttCacttggcatggctgttctgt	14	8	2	0	rs267603020		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:57427146C>T	ENST00000302731.4	+	2	318	c.198C>T	c.(196-198)ttC>ttT	p.F66F	CLP1_ENST00000529430.1_Silent_p.F77F|CLP1_ENST00000525602.1_Silent_p.F66F|CLP1_ENST00000533682.1_Silent_p.F66F	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TGGCTGTTTTCACTTGGCATG	0.507																																																	0													95	88	90					11																	57427146		2201	4296	6497	SO:0001819	synonymous_variant	10978			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.198C>T	11.37:g.57427146C>T			Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1	p.F66	ENST00000302731.4	37	c.198	CCDS44600.1	11																																																																																			CLP1	-	NULL		0.507	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	CLP1	HGNC	protein_coding	OTTHUMT00000393465.1	C	NM_006831		57427146	1	no_errors	ENST00000525602	ensembl	human	known	70_37	silent	SNP	1.000	T	T	57427146	C	T	57427146	2	4	193	1	0	0	0	0	0	0	0	1	3555	825	29	1		1	CLP1	11	57427146	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	350045	57427146	77579370	231	36891										
CTNND1	1500	genome.wustl.edu	37	chr11	57575940	57575940	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acctcctgactaatgaacatGaacgggtggtgaaagctgca	11	9	0	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:57575940G>A	ENST00000399050.4	+	14	2706	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	CTNND1_ENST00000531014.1_Missense_Mutation_p.E395K|CTNND1_ENST00000361391.6_Missense_Mutation_p.E718K|CTNND1_ENST00000527467.1_Missense_Mutation_p.E401K|CTNND1_ENST00000529526.1_Missense_Mutation_p.E664K|CTNND1_ENST00000526357.1_Missense_Mutation_p.E664K|CTNND1_ENST00000526772.1_Missense_Mutation_p.E395K|CTNND1_ENST00000525902.1_Missense_Mutation_p.E401K|CTNND1_ENST00000532844.1_Missense_Mutation_p.E670K|CTNND1_ENST00000358694.6_Missense_Mutation_p.E718K|CTNND1_ENST00000526938.1_Missense_Mutation_p.E724K|CTNND1_ENST00000529919.1_Missense_Mutation_p.E724K|CTNND1_ENST00000415361.2_Missense_Mutation_p.E623K|CTNND1_ENST00000528621.1_Missense_Mutation_p.E664K|CTNND1_ENST00000529986.1_Missense_Mutation_p.E617K|CTNND1_ENST00000532463.1_Missense_Mutation_p.E617K|CTNND1_ENST00000530748.1_Missense_Mutation_p.E670K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E718K|CTNND1_ENST00000533667.1_Missense_Mutation_p.E395K|CTNND1_ENST00000360682.6_Missense_Mutation_p.E724K|CTNND1_ENST00000361332.4_Missense_Mutation_p.E718K|CTNND1_ENST00000532787.1_Missense_Mutation_p.E617K|CTNND1_ENST00000529873.1_Missense_Mutation_p.E664K|CTNND1_ENST00000524630.1_Missense_Mutation_p.E718K|CTNND1_ENST00000534579.1_Missense_Mutation_p.E664K|CTNND1_ENST00000530094.1_Missense_Mutation_p.E617K|CTNND1_ENST00000426142.2_Missense_Mutation_p.E617K|CTNND1_ENST00000532649.1_Missense_Mutation_p.E664K|CTNND1_ENST00000532245.1_Missense_Mutation_p.E617K|CTNND1_ENST00000361796.4_Missense_Mutation_p.E718K|CTNND1_ENST00000528232.1_Missense_Mutation_p.E623K|CTNND1_ENST00000399039.4_Missense_Mutation_p.E724K	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	724					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TAATGAACATGAACGGGTGGT	0.468																																																	0													94	97	96					11																	57575940		2040	4200	6240	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2170G>A	11.37:g.57575940G>A	ENSP00000382004:p.Glu724Lys		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E724K	ENST00000399050.4	37	c.2170	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.678508	0.96764	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.051527	0.85682	D	0.000000	T	0.74107	0.3673	L	0.46157	1.445	0.80722	D	1	P;P;D;P;P;P;P;P;P	0.53619	0.902;0.902;0.961;0.952;0.952;0.952;0.936;0.902;0.92	B;B;P;P;P;P;P;B;P	0.50082	0.415;0.415;0.63;0.496;0.496;0.496;0.57;0.415;0.551	T	0.77346	-0.2622	10	0.87932	D	0	-2.8129	18.8697	0.92308	0.0:0.0:1.0:0.0	.	724;718;724;617;664;664;718;724;724	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	K	718;724;724;724;718;664;617;724;718;718;617;617;718;617;395;664;664;670;718;401;623;395;395;664;401;670;664;617;623;617;664;724	ENSP00000436543:E718K;ENSP00000434808:E724K;ENSP00000381996:E724K;ENSP00000353902:E724K;ENSP00000354907:E718K;ENSP00000436323:E664K;ENSP00000409930:E617K;ENSP00000382004:E724K;ENSP00000354785:E718K;ENSP00000354823:E718K;ENSP00000432075:E617K;ENSP00000437156:E617K;ENSP00000351527:E718K;ENSP00000434949:E617K;ENSP00000437051:E395K;ENSP00000435379:E664K;ENSP00000432243:E664K;ENSP00000436744:E670K;ENSP00000413586:E718K;ENSP00000434900:E401K;ENSP00000435266:E623K;ENSP00000432623:E395K;ENSP00000433158:E395K;ENSP00000435494:E664K;ENSP00000434672:E401K;ENSP00000433276:E670K;ENSP00000433334:E664K;ENSP00000437327:E617K;ENSP00000403518:E623K;ENSP00000434017:E617K;ENSP00000435789:E664K;ENSP00000432041:E724K	ENSP00000351527:E718K	E	+	1	0	CTNND1	57332516	1.000000	0.71417	0.962000	0.40283	0.896000	0.52359	9.476000	0.97823	2.570000	0.86706	0.467000	0.42956	GAA	CTNND1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.468	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	G	NM_001331		57575940	1	no_errors	ENST00000399050	ensembl	human	known	70_37	missense	SNP	1.000	A	A	57575940	G	A	57575940	3	1	193	1	0	0	0	0	1	0	0	0	4024	1291	45	1	2216	1	CTNND1	11	57575940	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	148794	57575940	77430576	232	36892										
SLC22A6	9356	genome.wustl.edu	37	chr11	62744783	62744783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggcatggaggggtagagctCggcagtcatgctcaccagtg	16	9	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:62744783C>T	ENST00000377871.3	-	9	1704	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.E480K|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	480					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGGTAGAGCTCGGCAGTCATG	0.652																																																	0													74	62	66					11																	62744783		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1438G>A	11.37:g.62744783C>T	ENSP00000367102:p.Glu480Lys		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.E480K	ENST00000377871.3	37	c.1438	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299479	0.81136	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	T;T	0.59772	0.24;0.24	4.76	4.76	0.60689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052792	0.64402	D	0.000001	T	0.71264	0.3319	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68483	0.958;0.929	T	0.70132	-0.4956	10	0.37606	T	0.19	.	15.2981	0.73925	0.0:1.0:0.0:0.0	.	480;480	Q4U2R8;Q4U2R8-2	S22A6_HUMAN;.	K	480;459;480	ENSP00000353597:E480K;ENSP00000367102:E480K	ENSP00000353597:E480K	E	-	1	0	SLC22A6	62501359	1.000000	0.71417	0.938000	0.37757	0.351000	0.29236	5.430000	0.66501	2.440000	0.82611	0.561000	0.74099	GAG	SLC22A6	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.652	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	C	NM_004790		62744783	-1	no_errors	ENST00000377871	ensembl	human	known	70_37	missense	SNP	0.999	T	T	62744783	C	T	62744783	3	4	193	1	0	0	0	0	1	0	0	0	14488	893	31	1	261	1	SLC22A6	11	62744783	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	5168843	62744783	72261733	233	36893										
GPR137	56834	genome.wustl.edu	37	chr11	64055563	64055563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agtgtgtgccaggcggccgcGatgggtggcgccatggtcct	18	11	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:64055563G>A	ENST00000313074.3	+	4	765	c.660G>A	c.(658-660)gcG>gcA	p.A220A	GPR137_ENST00000539851.1_Silent_p.A220A|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000438980.2_Silent_p.A220A|GPR137_ENST00000411458.1_Silent_p.A278A	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	220						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						AGGCGGCCGCGATGGGTGGCG	0.647																																																	0													51	55	53					11																	64055563		2201	4297	6498	SO:0001819	synonymous_variant	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.660G>A	11.37:g.64055563G>A			B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	NULL	p.A220	ENST00000313074.3	37	c.660	CCDS8066.1	11																																																																																			GPR137	-	NULL		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	GPR137	HGNC	protein_coding	OTTHUMT00000396412.1	G	NM_020155		64055563	1	no_errors	ENST00000313074	ensembl	human	known	70_37	silent	SNP	0.006	A	A	64055563	G	A	64055563	2	1	193	1	0	0	0	0	0	0	0	1	6664	1045	37	1		1	GPR137	11	64055563	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1310780	64055563	70950953	234	36894										
NPAS4	266743	genome.wustl.edu	37	chr11	66189939	66189939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	caggtggacctggttgcccaGggtgacagcatctacgacat	13	11	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:66189939G>A	ENST00000311034.2	+	3	521	c.345G>A	c.(343-345)caG>caA	p.Q115Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	115	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGTTGCCCAGGGTGACAGCA	0.537																																																	0													168	145	153					11																	66189939		2200	4295	6495	SO:0001819	synonymous_variant	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.345G>A	11.37:g.66189939G>A			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.Q115	ENST00000311034.2	37	c.345	CCDS8138.1	11																																																																																			NPAS4	-	smart_PAS,pfscan_PAS		0.537	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66189939	1	no_errors	ENST00000311034	ensembl	human	known	70_37	silent	SNP	1.000	A	A	66189939	G	A	66189939	2	1	193	1	0	0	0	0	0	0	0	1	10589	991	35	4		4	NPAS4	11	66189939	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2134376	66189939	68816577	235	36895										
NPAS4	266743	genome.wustl.edu	37	chr11	66191346	66191346	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tccgccagcagttgaactctGaagacacccaggcagcttat	9	13	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:66191346G>A	ENST00000311034.2	+	7	1161	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	329					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GTTGAACTCTGAAGACACCCA	0.562																																																	0													96	99	98					11																	66191346		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.985G>A	11.37:g.66191346G>A	ENSP00000311196:p.Glu329Lys		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.E329K	ENST00000311034.2	37	c.985	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040415	0.75732	.	.	ENSG00000174576	ENST00000311034	T	0.47869	0.83	4.5	4.5	0.54988	.	0.230475	0.30611	N	0.009254	T	0.49338	0.1551	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	P	0.57548	0.823	T	0.31861	-0.9928	10	0.22706	T	0.39	-8.5885	15.0797	0.72106	0.0:0.0:1.0:0.0	.	329	Q8IUM7	NPAS4_HUMAN	K	329	ENSP00000311196:E329K	ENSP00000311196:E329K	E	+	1	0	NPAS4	65947922	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.918000	0.87506	2.496000	0.84212	0.561000	0.74099	GAA	NPAS4	-	NULL		0.562	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66191346	1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66191346	G	A	66191346	3	1	193	1	0	0	0	0	1	0	0	0	10589	1291	45	1	1011	1	NPAS4	11	66191346	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1407	66191346	68815170	236	36896										
NDUFV1	4723	genome.wustl.edu	37	chr11	67376092	67376092	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctgctgaaggggcccgactgGatcctgggcgagatcaagac	15	11	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:67376092G>A	ENST00000322776.6	+	3	378	c.225G>A	c.(223-225)tgG>tgA	p.W75*	C11orf72_ENST00000446232.1_5'Flank|NDUFV1_ENST00000415352.2_Nonsense_Mutation_p.W68*|C11orf72_ENST00000333139.3_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000532303.1_5'UTR|NDUFV1_ENST00000529927.1_Nonsense_Mutation_p.W66*	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GGCCCGACTGGATCCTGGGCG	0.572																																																	0													129	141	136					11																	67376092		2200	4295	6495	SO:0001587	stop_gained	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.225G>A	11.37:g.67376092G>A	ENSP00000322450:p.Trp75*		O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Nonsense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF	p.W75*	ENST00000322776.6	37	c.225	CCDS8173.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.117104	0.94385	.	.	ENSG00000167792	ENST00000322776;ENST00000528328;ENST00000529927;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000453836;ENST00000530638	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0787	14.9788	0.71296	0.0:0.0:1.0:0.0	.	.	.	.	X	75;58;66;68;68;63;75;36	.	ENSP00000322450:W75X	W	+	3	0	NDUFV1	67132668	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.367000	0.97148	2.393000	0.81446	0.643000	0.83706	TGG	NDUFV1	-	tigrfam_NADH-UbQ_OxRdtase_suF		0.572	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	HGNC	protein_coding	OTTHUMT00000388406.1	G	NM_007103		67376092	1	no_errors	ENST00000322776	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	67376092	G	A	67376092	4	1	193	1	0	0	0	0	0	1	0	0	10323	1183	41	1	235	1	NDUFV1	11	67376092	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1184746	67376092	67630424	237	36897										
RNF121	55298	genome.wustl.edu	37	chr11	71705867	71705867	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcagtgaagaggggatcattGagaacacgtataggctgtcc	13	7	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:71705867G>C	ENST00000361756.3	+	7	1091	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	RNF121_ENST00000393713.3_Intron|RNF121_ENST00000545854.1_Missense_Mutation_p.E163Q|RNF121_ENST00000530137.1_Missense_Mutation_p.E212Q|RNF121_ENST00000533380.1_Missense_Mutation_p.E84Q	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	244						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GGGGATCATTGAGAACACGTA	0.517																																																	0													309	235	260					11																	71705867		2200	4293	6493	SO:0001583	missense	55298			AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"RING-type (C3HC4) zinc fingers"	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.730G>C	11.37:g.71705867G>C	ENSP00000354571:p.Glu244Gln		B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E244Q	ENST00000361756.3	37	c.730	CCDS8203.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.332376	0.95733	.	.	ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000545854;ENST00000530137	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.91635	0.894;0.999	T	0.04635	-1.0937	10	0.62326	D	0.03	-8.3539	19.3531	0.94398	0.0:0.0:1.0:0.0	.	212;244	G3V148;Q9H920	.;RN121_HUMAN	Q	244;84;163;212	ENSP00000354571:E244Q;ENSP00000433574:E84Q;ENSP00000443799:E163Q;ENSP00000431286:E212Q	ENSP00000354571:E244Q	E	+	1	0	RNF121	71383515	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.093000	0.94163	2.941000	0.99782	0.655000	0.94253	GAG	RNF121	-	smart_Znf_RING,pfscan_Znf_RING		0.517	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF121	HGNC	protein_coding	OTTHUMT00000347132.1	G	NM_018320		71705867	1	no_errors	ENST00000361756	ensembl	human	known	70_37	missense	SNP	1.000	C	C	71705867	G	C	71705867	3	2	193	1	0	0	0	0	1	0	0	0	13461	1291	45	1	756	1	RNF121	11	71705867	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4329775	71705867	63300649	238	36898										
PGM2L1	283209	genome.wustl.edu	37	chr11	74085555	74085555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cccaaaagtcattcggcaacAaagacgatctcgcagctcct	7	14	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:74085555A>G	ENST00000298198.4	-	2	495	c.184T>C	c.(184-186)Tgt>Cgt	p.C62R		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	62					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATTCGGCAACAAAGACGATCT	0.408																																																	0													145	120	128					11																	74085555		2200	4293	6493	SO:0001583	missense	283209			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.184T>C	11.37:g.74085555A>G	ENSP00000298198:p.Cys62Arg		Q96MQ7|Q9UIK3	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III	p.C62R	ENST00000298198.4	37	c.184	CCDS8231.1	11	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250083	0.59212	.	.	ENSG00000165434	ENST00000298198	T	0.62364	0.03	4.85	4.85	0.62838	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	L	0.39147	1.195	0.80722	D	1	B	0.31625	0.332	B	0.33042	0.157	T	0.49753	-0.8906	10	0.25106	T	0.35	-13.4833	12.4308	0.55573	1.0:0.0:0.0:0.0	.	62	Q6PCE3	PGM2L_HUMAN	R	62	ENSP00000298198:C62R	ENSP00000298198:C62R	C	-	1	0	PGM2L1	73763203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.693000	0.61753	2.029000	0.59856	0.460000	0.39030	TGT	PGM2L1	-	superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.408	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	HGNC	protein_coding	OTTHUMT00000398324.1	A	NM_173582		74085555	-1	no_errors	ENST00000298198	ensembl	human	known	70_37	missense	SNP	1.000	G	G	74085555	A	G	74085555	3	3	193	1	0	0	0	0	1	0	0	0	11823	130	5	5	1736	5	PGM2L1	11	74085555	Missense_Mutation	SNP	A	TCGA-UC-A7PF-01A-11D-A351-09	2379688	74085555	60920961	239	36899										
PAK1	5058	genome.wustl.edu	37	chr11	77043794	77043794	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cctgtagcagctctttagctGaacctctcttctccacatcc	5	16	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:77043794G>A	ENST00000356341.3	-	14	2063	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Missense_Mutation_p.S511L|PAK1_ENST00000528203.1_Missense_Mutation_p.S413L|PAK1_ENST00000278568.4_Missense_Mutation_p.S511L	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CTCTTTAGCTGAACCTCTCTT	0.473																																																	0													196	207	203					11																	77043794		2200	4292	6492	SO:0001583	missense	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1532C>T	11.37:g.77043794G>A	ENSP00000348696:p.Ser511Leu		O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.S511L	ENST00000356341.3	37	c.1532	CCDS8250.1	11	.	.	.	.	.	.	.	.	.	.	g	23.6	4.430319	0.83776	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87325	0.6149	M	0.93241	3.395	0.80722	D	1	D;D;P;B	0.76494	0.999;0.998;0.943;0.058	D;D;P;B	0.79108	0.992;0.965;0.856;0.169	D	0.89093	0.3484	10	0.62326	D	0.03	.	20.326	0.98701	0.0:0.0:1.0:0.0	.	413;511;511;511	E9PM17;B3KNX7;Q13153;Q13153-2	.;.;PAK1_HUMAN;.	L	511;511;511;413	ENSP00000348696:S511L;ENSP00000433423:S511L;ENSP00000278568:S511L;ENSP00000433211:S413L	ENSP00000278568:S511L	S	-	2	0	PAK1	76721442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.504000	0.81646	2.811000	0.96726	0.651000	0.88453	TCA	PAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.473	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	HGNC	protein_coding	OTTHUMT00000382083.2	G	NM_002576		77043794	-1	no_errors	ENST00000278568	ensembl	human	known	70_37	missense	SNP	1.000	A	A	77043794	G	A	77043794	3	1	193	1	0	0	0	0	1	0	0	0	11423	1294	45	1	166	1	PAK1	11	77043794	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2958239	77043794	57962722	240	36900										
PRSS23	11098	genome.wustl.edu	37	chr11	86519623	86519623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccagcaatgcgatgcccagcCaggggccagcgggtctgggg	17	13	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:86519623C>T	ENST00000280258.5	+	2	1363	c.938C>T	c.(937-939)cCa>cTa	p.P313L	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P281L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	313						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GATGCCCAGCCAGGGGCCAGC	0.522																																																	0													77	85	82					11																	86519623		2201	4299	6500	SO:0001583	missense	11098			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.938C>T	11.37:g.86519623C>T	ENSP00000280258:p.Pro313Leu		B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.P313L	ENST00000280258.5	37	c.938	CCDS8278.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434224	0.83776	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.52057	0.68;0.68	5.74	5.74	0.90152	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70726	-0.4793	9	.	.	.	-16.8349	19.9187	0.97077	0.0:1.0:0.0:0.0	.	281;313	B4E2J3;O95084	.;PRS23_HUMAN	L	313;281	ENSP00000280258:P313L;ENSP00000393015:P281L	.	P	+	2	0	PRSS23	86197271	1.000000	0.71417	0.968000	0.41197	0.876000	0.50452	7.395000	0.79876	2.710000	0.92621	0.563000	0.77884	CCA	PRSS23	-	superfamily_Pept_cys/ser_Trypsin-like		0.522	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS23	HGNC	protein_coding	OTTHUMT00000393805.2	C	NM_007173		86519623	1	no_errors	ENST00000280258	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86519623	C	T	86519623	3	4	193	1	0	0	0	0	1	0	0	0	12647	594	21	4	940	4	PRSS23	11	86519623	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	9475829	86519623	48486893	241	36901										
NPAT	4863	genome.wustl.edu	37	chr11	108044204	108044204	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tattggtatatcaggctgatCaggctgtaactgagattcac	10	7	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:108044204C>G	ENST00000278612.8	-	13	1612	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	503					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCAGGCTGATCAGGCTGTAAC	0.368																																																	0													127	122	123					11																	108044204		1867	4096	5963	SO:0001583	missense	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1507G>C	11.37:g.108044204C>G	ENSP00000278612:p.Asp503His		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D503H	ENST00000278612.8	37	c.1507	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	C	4.278	0.050716	0.08243	.	.	ENSG00000149308	ENST00000278612	T	0.28069	1.63	6.08	4.21	0.49690	.	0.380295	0.29493	N	0.011997	T	0.44265	0.1285	M	0.62723	1.935	0.29803	N	0.832279	D;P	0.56287	0.975;0.956	P;P	0.56960	0.81;0.551	T	0.46289	-0.9202	10	0.62326	D	0.03	-4.1581	9.7917	0.40710	0.1397:0.7908:0.0:0.0695	.	503;503	B9EG70;Q14207	.;NPAT_HUMAN	H	503	ENSP00000278612:D503H	ENSP00000278612:D503H	D	-	1	0	NPAT	107549414	0.946000	0.32159	0.671000	0.29857	0.037000	0.13140	0.380000	0.20602	0.897000	0.36392	-0.181000	0.13052	GAT	NPAT	-	NULL		0.368	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2	C	NM_002519		108044204	-1	no_errors	ENST00000278612	ensembl	human	known	70_37	missense	SNP	0.759	G	G	108044204	C	G	108044204	3	3	193	1	0	0	0	0	1	0	0	0	10590	826	29	1	2800	1	NPAT	11	108044204	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	21524581	108044204	26962312	242	36902										
UBE4A	9354	genome.wustl.edu	37	chr11	118247314	118247314	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gacaaagaaacctgtttgatCccagctgtgcaggagccgaa	11	10	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:118247314C>T	ENST00000431736.2	+	10	1569	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	UBE4A_ENST00000545354.1_5'Flank|UBE4A_ENST00000252108.3_Silent_p.I492I					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	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;3.28e-05)		CCTGTTTGATCCCAGCTGTGC	0.418																																																	0													117	119	118					11																	118247314		2200	4296	6496	SO:0001819	synonymous_variant	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1497C>T	11.37:g.118247314C>T				Silent	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.I499	ENST00000431736.2	37	c.1497	CCDS8396.1	11																																																																																			UBE4A	-	pfam_Ub_conjug_fac_E4_core		0.418	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBE4A	HGNC	protein_coding	OTTHUMT00000398143.1	C	NM_004788		118247314	1	no_errors	ENST00000431736	ensembl	human	known	70_37	silent	SNP	1.000	T	T	118247314	C	T	118247314	2	4	193	1	0	0	0	0	0	0	0	1	16913	845	30	1		1	UBE4A	11	118247314	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	10203110	118247314	16759202	243	36903										
MLL	4297	genome.wustl.edu	37	chr11	118352537	118352537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtcagaaacctaccccatcaGcaagagaggatcctgcccca	8	15	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:118352537G>T	ENST00000389506.5	+	7	3742	c.3742G>T	c.(3742-3744)Gca>Tca	p.A1248S	KMT2A_ENST00000354520.4_Missense_Mutation_p.A1248S|KMT2A_ENST00000534358.1_Missense_Mutation_p.A1248S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1248					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TACCCCATCAGCAAGAGAGGA	0.498																																																	0													105	97	100					11																	118352537		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3742G>T	11.37:g.118352537G>T	ENSP00000374157:p.Ala1248Ser		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.A1248S	ENST00000389506.5	37	c.3742	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317518	0.23908	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313	D;T;D;T	0.81659	-1.52;1.03;-1.52;-1.46	5.67	2.79	0.32731	.	0.552967	0.19352	N	0.116368	T	0.69486	0.3116	L	0.36672	1.1	0.21290	N	0.999734	B;B	0.24258	0.1;0.1	B;B	0.21708	0.036;0.036	T	0.56323	-0.7998	10	0.35671	T	0.21	.	8.8551	0.35223	0.1385:0.2812:0.5802:0.0	.	1248;1248	E9PQG7;Q03164	.;MLL1_HUMAN	S	1248;1281;1248;1248;158	ENSP00000436786:A1248S;ENSP00000432391:A1281S;ENSP00000374157:A1248S;ENSP00000346516:A1248S	ENSP00000346516:A1248S	A	+	1	0	MLL	117857747	0.863000	0.29885	0.151000	0.22473	0.894000	0.52154	0.218000	0.17622	0.333000	0.23563	-0.253000	0.11424	GCA	MLL	-	pirsf_MeTrfase_trithorax		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118352537	1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	0.942	T	T	118352537	G	T	118352537	3	4	193	1	0	0	0	0	1	0	0	0	9643	971	34	4	3768	4	MLL	11	118352537	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	105223	118352537	16653979	244	36904										
UBASH3B	84959	genome.wustl.edu	37	chr11	122680574	122680574	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctgggggcttcaactggagaGagaccttgcttcaagaataa	12	8	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:122680574G>C	ENST00000284273.5	+	14	2305	c.1930G>C	c.(1930-1932)Gag>Cag	p.E644Q		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	644	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CAACTGGAGAGAGACCTTGCT	0.453																																																	0													83	84	83					11																	122680574		2202	4299	6501	SO:0001583	missense	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1930G>C	11.37:g.122680574G>C	ENSP00000284273:p.Glu644Gln		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.E644Q	ENST00000284273.5	37	c.1930	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822149	0.71028	.	.	ENSG00000154127	ENST00000284273	T	0.06068	3.35	5.73	5.73	0.89815	.	0.045509	0.85682	D	0.000000	T	0.05777	0.0151	N	0.22421	0.69	0.80722	D	1	B	0.31879	0.344	B	0.20955	0.032	T	0.49881	-0.8892	10	0.25106	T	0.35	-13.1586	20.2602	0.98440	0.0:0.0:1.0:0.0	.	644	Q8TF42	UBS3B_HUMAN	Q	644	ENSP00000284273:E644Q	ENSP00000284273:E644Q	E	+	1	0	UBASH3B	122185784	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.764000	0.98949	2.861000	0.98227	0.655000	0.94253	GAG	UBASH3B	-	NULL		0.453	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	G	NM_032873		122680574	1	no_errors	ENST00000284273	ensembl	human	known	70_37	missense	SNP	1.000	C	C	122680574	G	C	122680574	3	2	193	1	0	0	0	0	1	0	0	0	16871	943	33	1	1984	1	UBASH3B	11	122680574	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4328037	122680574	12325942	245	36905										
SCNN1A	6337	genome.wustl.edu	37	chr12	6457040	6457040	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agaaacctctccttccctctCagggcccccccagaggacag	8	18	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:6457040C>T	ENST00000228916.2	-	13	2107	c.2009G>A	c.(2008-2010)tGa>tAa	p.*670*	SCNN1A_ENST00000360168.3_Silent_p.*729*|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Silent_p.*693*|SCNN1A_ENST00000358945.3_Silent_p.*692*|SCNN1A_ENST00000540037.1_Silent_p.*370*	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	0					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTTCCCTCTCAGGGCCCCCC	0.652																																																	0													8	8	8					12																	6457040		2055	4025	6080	SO:0001819	synonymous_variant	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.2009G>A	12.37:g.6457040C>T			A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.*692	ENST00000228916.2	37	c.2075	CCDS8543.1	12																																																																																			SCNN1A	-	NULL		0.652	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	C			6457040	-1	no_errors	ENST00000358945	ensembl	human	known	70_37	silent	SNP	0.992	T	T	6457040	C	T	6457040	2	4	193	1	0	0	0	0	0	0	0	1	13957	837	29	1		1	SCNN1A	12	6457040	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		6457040	127394855	246	36906										
LST-3TM12	338821	genome.wustl.edu	37	chr12	21242987	21242987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aagtaatggatgaagcaaacTtagaattcttaaacgacagt	8	5	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:21242987T>C	ENST00000421593.2	+	13	1870	c.1870T>C	c.(1870-1872)Tta>Cta	p.L624L	LST3_ENST00000381541.3_Silent_p.L671L|SLCO1B3_ENST00000553473.1_Silent_p.L732L|SLCO1B7_ENST00000554957.1_Silent_p.L671L|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000540229.1_Silent_p.L732L	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	624						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGAAGCAAACTTAGAATTCTT	0.308																																																	0													44	48	46					12																	21242987		2090	4252	6342	SO:0001819	synonymous_variant	28234			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1870T>C	12.37:g.21242987T>C			Q71QF0	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L732	ENST00000421593.2	37	c.2194	CCDS44843.1	12																																																																																			SLCO1B3	-	NULL		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000402066.1	T	NM_001009562		21242987	1	no_errors	ENST00000553473	ensembl	human	known	70_37	silent	SNP	0.018	C	C	21242987	T	C	21242987	2	2	193	1	0	0	0	0	0	0	0	1	9089	1606	56	5		5	LST-3TM12	12	21242987	Silent	SNP	T	TCGA-UC-A7PF-01A-11D-A351-09	14785947	21242987	112608908	247	36907										
ABCC9	10060	genome.wustl.edu	37	chr12	21997453	21997453	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtatcagctgaaaagcgattGagaatcagtcccaggggtgt	13	7	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:21997453G>A	ENST00000261201.4	-	26	3278	c.3279C>T	c.(3277-3279)ctC>ctT	p.L1093L	ABCC9_ENST00000261200.4_Silent_p.L1093L|ABCC9_ENST00000345162.2_Silent_p.L1057L|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1093	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAAGCGATTGAGAATCAGTC	0.358																																																	0													102	110	107					12																	21997453		2203	4300	6503	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3279C>T	12.37:g.21997453G>A			O60707	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L1093	ENST00000261201.4	37	c.3279	CCDS8694.1	12																																																																																			ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.358	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	G	NM_005691		21997453	-1	no_errors	ENST00000261200	ensembl	human	known	70_37	silent	SNP	0.989	A	A	21997453	G	A	21997453	2	1	193	1	0	0	0	0	0	0	0	1	59	1277	45	1		1	ABCC9	12	21997453	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	754466	21997453	111854442	248	36908										
CAPRIN2	65981	genome.wustl.edu	37	chr12	30882050	30882050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcttgtttcctctgttctaaGgaaactgcaggcttggatac	9	9	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:30882050G>A	ENST00000395805.2	-	8	1861	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Silent_p.S438S|CAPRIN2_ENST00000251071.5_Silent_p.S438S|CAPRIN2_ENST00000308433.5_Silent_p.S105S|CAPRIN2_ENST00000417045.1_Silent_p.S438S	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTGTTCTAAGGAAACTGCAG	0.483																																																	0													126	119	122					12																	30882050		2203	4300	6503	SO:0001819	synonymous_variant	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1314C>T	12.37:g.30882050G>A				Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.S438	ENST00000395805.2	37	c.1314	CCDS55816.1	12																																																																																			CAPRIN2	-	NULL		0.483	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	G	NM_023925		30882050	-1	no_errors	ENST00000251071	ensembl	human	known	70_37	silent	SNP	0.598	A	A	30882050	G	A	30882050	2	1	193	1	0	0	0	0	0	0	0	1	2641	987	35	4		4	CAPRIN2	12	30882050	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	8884597	30882050	102969845	249	36909										
SFRS2IP	9169	genome.wustl.edu	37	chr12	46322156	46322156	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aacttttcaagcaattagcaGactggttttctacatgagtc	7	8	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:46322156G>A	ENST00000369367.3	-	11	1561	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F	SCAF11_ENST00000549162.1_Missense_Mutation_p.S251F|SCAF11_ENST00000419565.2_Missense_Mutation_p.S443F|SCAF11_ENST00000465950.1_Missense_Mutation_p.S128F	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	443					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GCAATTAGCAGACTGGTTTTC	0.388																																																	0													121	114	117					12																	46322156		2203	4300	6503	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1328C>T	12.37:g.46322156G>A	ENSP00000358374:p.Ser443Phe		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S443F	ENST00000369367.3	37	c.1328	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788817	0.70337	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.53423	1.28;2.0;1.27;2.0;0.62	6.08	4.98	0.66077	.	0.530450	0.19487	N	0.113087	T	0.46502	0.1396	L	0.27053	0.805	0.27260	N	0.958667	D;P	0.53462	0.96;0.933	P;P	0.51918	0.684;0.456	T	0.41466	-0.9507	10	0.66056	D	0.02	0.3418	12.7022	0.57041	0.0989:0.0:0.9011:0.0	.	251;443	F8VXG7;Q99590	.;SCAFB_HUMAN	F	128;443;251;443;383	ENSP00000449812:S128F;ENSP00000358374:S443F;ENSP00000448864:S251F;ENSP00000413036:S443F;ENSP00000446746:S383F	ENSP00000358374:S443F	S	-	2	0	SCAF11	44608423	1.000000	0.71417	0.556000	0.28293	0.739000	0.42172	5.145000	0.64839	1.237000	0.43756	0.591000	0.81541	TCT	SCAF11	-	NULL		0.388	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	G	NM_004719		46322156	-1	no_errors	ENST00000369367	ensembl	human	known	70_37	missense	SNP	0.986	A	A	46322156	G	A	46322156	3	1	193	1	0	0	0	0	1	0	0	0	14207	942	33	1	3083	1	SFRS2IP	12	46322156	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	15440106	46322156	87529739	250	36910										
MLL2	8085	genome.wustl.edu	37	chr12	49420619	49420619	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cagcagacgggcaggcccatCagtggccccgtcaccctcct	11	18	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:49420619C>T	ENST00000301067.7	-	48	15129	c.15130G>A	c.(15130-15132)Gat>Aat	p.D5044N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5044					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCAGGCCCATCAGTGGCCCCG	0.612																																																	0													64	70	68					12																	49420619		2135	4224	6359	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15130G>A	12.37:g.49420619C>T	ENSP00000301067:p.Asp5044Asn		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D5044N	ENST00000301067.7	37	c.15130	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034481	0.54896	.	.	ENSG00000167548	ENST00000301067	T	0.80304	-1.36	4.86	4.86	0.63082	.	0.000000	0.39834	N	0.001248	D	0.89051	0.6605	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90352	0.4367	10	0.87932	D	0	.	17.1536	0.86784	0.0:1.0:0.0:0.0	.	5044	O14686	MLL2_HUMAN	N	5044	ENSP00000301067:D5044N	ENSP00000301067:D5044N	D	-	1	0	MLL2	47706886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.775000	0.85489	2.425000	0.82216	0.655000	0.94253	GAT	MLL2	-	NULL		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49420619	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49420619	C	T	49420619	3	4	193	1	0	0	0	0	1	0	0	0	9644	826	29	1	1511	1	MLL2	12	49420619	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3098463	49420619	84431276	251	36911			1	145		4	4	4441	C		4.322996e-05
MLL2	8085	genome.wustl.edu	37	chr12	49420832	49420832	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaggcgaggaggacgggaatCttcaccttcttcagggggcc	16	10	4	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:49420832C>G	ENST00000301067.7	-	48	14916	c.14917G>C	c.(14917-14919)Gat>Cat	p.D4973H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4973	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGACGGGAATCTTCACCTTCT	0.642																																																	0													65	71	69					12																	49420832		1965	4145	6110	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14917G>C	12.37:g.49420832C>G	ENSP00000301067:p.Asp4973His		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D4973H	ENST00000301067.7	37	c.14917	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003585	0.19121	.	.	ENSG00000167548	ENST00000301067	T	0.79940	-1.32	3.89	3.89	0.44902	.	0.000000	0.36002	N	0.002847	T	0.75421	0.3847	N	0.12182	0.205	0.28784	N	0.899666	D	0.56521	0.976	P	0.53809	0.735	T	0.74315	-0.3705	10	0.87932	D	0	.	15.1821	0.72968	0.0:1.0:0.0:0.0	.	4973	O14686	MLL2_HUMAN	H	4973	ENSP00000301067:D4973H	ENSP00000301067:D4973H	D	-	1	0	MLL2	47707099	.	.	1.000000	0.80357	0.942000	0.58702	.	.	2.181000	0.69327	0.563000	0.77884	GAT	MLL2	-	NULL		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49420832	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49420832	C	G	49420832	3	3	193	1	0	0	0	0	1	0	0	0	9644	913	32	1	1724	1	MLL2	12	49420832	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	213	49420832	84431063	252	36912			1	145		4	4	4441	C		4.322996e-05
MLL2	8085	genome.wustl.edu	37	chr12	49424551	49424551	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	taggggcagcagggacagctCctacaaggggcaagatgaca	15	9	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:49424551C>G	ENST00000301067.7	-	41	13671	c.13672G>C	c.(13672-13674)Gag>Cag	p.E4558Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4558					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGGACAGCTCCTACAAGGGG	0.587																																																	0													44	47	46					12																	49424551		1920	4136	6056	SO:0001630	splice_region_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13672-1G>C	12.37:g.49424551C>G			O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E4558Q	ENST00000301067.7	37	c.13672	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331739	0.24167	.	.	ENSG00000167548	ENST00000301067	T	0.77877	-1.13	5.19	5.19	0.71726	.	0.000000	0.38959	N	0.001510	T	0.55545	0.1927	N	0.01168	-0.975	0.45648	D	0.998572	B	0.30824	0.296	B	0.29942	0.109	T	0.64960	-0.6284	10	0.87932	D	0	.	17.86	0.88778	0.0:1.0:0.0:0.0	.	4558	O14686	MLL2_HUMAN	Q	4558	ENSP00000301067:E4558Q	ENSP00000301067:E4558Q	E	-	1	0	MLL2	47710818	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.633000	0.46519	2.610000	0.88304	0.561000	0.74099	GAG	MLL2	-	NULL		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C		Missense_Mutation	49424551	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49424551	C	G	49424551	5	3	193	1	0	0	0	0	0	0	1	0	9644	869	30	1	2997	1	MLL2	12	49424551	Splice_Site	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3719	49424551	84427344	253	36913			1	145		4	4	4441	C		4.322996e-05
MLL2	8085	genome.wustl.edu	37	chr12	49425059	49425059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cagcccctcggacccccgccCagtgctgagttgcacattct	9	18	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:49425059C>T	ENST00000301067.7	-	39	13428	c.13429G>A	c.(13429-13431)Ggg>Agg	p.G4477R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4477					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACCCCCGCCCAGTGCTGAGT	0.607																																																	0													71	76	75					12																	49425059		2045	4197	6242	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13429G>A	12.37:g.49425059C>T	ENSP00000301067:p.Gly4477Arg		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G4477R	ENST00000301067.7	37	c.13429	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725527	0.30593	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	5.57	5.57	0.84162	.	0.000000	0.39210	N	0.001425	T	0.69433	0.3110	N	0.14661	0.345	0.35844	D	0.826263	D	0.60575	0.988	P	0.48840	0.592	T	0.78735	-0.2088	10	0.87932	D	0	.	13.5075	0.61491	0.0:0.7381:0.2619:0.0	.	4477	O14686	MLL2_HUMAN	R	4477	ENSP00000301067:G4477R	ENSP00000301067:G4477R	G	-	1	0	MLL2	47711326	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.673000	0.61604	2.793000	0.96121	0.655000	0.94253	GGG	MLL2	-	NULL		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49425059	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T	T	49425059	C	T	49425059	3	4	193	1	0	0	0	0	1	0	0	0	9644	594	21	4	3248	4	MLL2	12	49425059	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	508	49425059	84426836	254	36914			1	145		4	4	4441	C		4.322996e-05
BIN2	51411	genome.wustl.edu	37	chr12	51686023	51686023	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gttgctgagacagattcactCtcactcttcaaggaaagtgt	9	9	4	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:51686023C>T	ENST00000267012.4	-	10	928	c.867G>A	c.(865-867)gaG>gaA	p.E289E	BIN2_ENST00000604560.1_Silent_p.E262E|BIN2_ENST00000452142.2_Silent_p.E257E|BIN2_ENST00000544402.1_Silent_p.E263E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	289					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGATTCACTCTCACTCTTCA	0.488																																																	0													73	73	73					12																	51686023		2203	4300	6503	SO:0001819	synonymous_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.867G>A	12.37:g.51686023C>T			Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.E289	ENST00000267012.4	37	c.867	CCDS8811.1	12																																																																																			BIN2	-	NULL		0.488	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	C			51686023	-1	no_errors	ENST00000267012	ensembl	human	known	70_37	silent	SNP	0.059	T	T	51686023	C	T	51686023	2	4	193	1	0	0	0	0	0	0	0	1	1434	912	32	1		1	BIN2	12	51686023	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2260964	51686023	82165872	255	36915										
MFSD5	84975	genome.wustl.edu	37	chr12	53646785	53646785	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acttcctggccctggcagctGattggcttcaggccccctac	10	16	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:53646785G>C	ENST00000329548.4	+	2	357	c.166G>C	c.(166-168)Gat>Cat	p.D56H	MFSD5_ENST00000534842.1_Missense_Mutation_p.D163H	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	56					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTGGCAGCTGATTGGCTTCA	0.527																																																	0													149	158	155					12																	53646785		2203	4300	6503	SO:0001583	missense	84975			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.166G>C	12.37:g.53646785G>C	ENSP00000332624:p.Asp56His		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.D163H	ENST00000329548.4	37	c.487	CCDS8851.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968091	0.74131	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80824	-1.42;-1.42	4.3	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	D	0.92404	0.5932	10	0.87932	D	0	-7.6368	15.6853	0.77405	0.0:0.0:1.0:0.0	.	56;163	Q6N075;G3V1N7	MFSD5_HUMAN;.	H	163;163;163;56	ENSP00000442688:D163H;ENSP00000332624:D56H	ENSP00000331231:D163H	D	+	1	0	MFSD5	51933052	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.907000	0.92634	2.239000	0.73571	0.561000	0.74099	GAT	MFSD5	-	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.527	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD5	HGNC	protein_coding	OTTHUMT00000406896.1	G	NM_032889		53646785	1	no_errors	ENST00000534842	ensembl	human	known	70_37	missense	SNP	1.000	C	C	53646785	G	C	53646785	3	2	193	1	0	0	0	0	1	0	0	0	9557	1290	45	1	493	1	MFSD5	12	53646785	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1960762	53646785	80205110	256	36916										
HOXC5	3222	genome.wustl.edu	37	chr12	54428118	54428118	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gctaccagactctggaactcGagaaagaattccactttaac	7	11	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:54428118G>C	ENST00000312492.2	+	2	781	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.E75Q|RP11-834C11.14_ENST00000512206.1_RNA|MIR615_ENST00000384839.1_RNA|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	171					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TCTGGAACTCGAGAAAGAATT	0.532																																																	0													84	92	89					12																	54428118		2203	4300	6503	SO:0001583	missense	3222				CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"Homeoboxes / ANTP class : HOXL subclass"	5127	protein-coding gene	gene with protein product		142973	"homeo box C5"	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.511G>C	12.37:g.54428118G>C	ENSP00000309336:p.Glu171Gln			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.E171Q	ENST00000312492.2	37	c.511	CCDS8872.1	12	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462927	0.63513	.	.	ENSG00000172789	ENST00000312492	D	0.97710	-4.5	4.13	3.23	0.37069	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.42548	D	0.000683	D	0.98776	0.9588	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98507	1.0617	10	0.87932	D	0	.	11.5647	0.50798	0.0973:0.0:0.9027:0.0	.	171	Q00444	HXC5_HUMAN	Q	171	ENSP00000309336:E171Q	ENSP00000309336:E171Q	E	+	1	0	HOXC5	52714385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.752000	0.85141	2.293000	0.77203	0.561000	0.74099	GAG	HOXC5	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_antennapedia		0.532	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC5	HGNC	protein_coding	OTTHUMT00000358947.1	G			54428118	1	no_errors	ENST00000312492	ensembl	human	known	70_37	missense	SNP	1.000	C	C	54428118	G	C	54428118	3	2	193	1	0	0	0	0	1	0	0	0	7334	1059	37	1	517	1	HOXC5	12	54428118	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	781333	54428118	79423777	257	36917										
USP15	9958	genome.wustl.edu	37	chr12	62798108	62798108	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaagtgatgaagatagcaatGataatgacaatgatatagaa	9	2	0	7			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:62798108G>C	ENST00000280377.5	+	22	2957	c.2899G>C	c.(2899-2901)Gat>Cat	p.D967H	USP15_ENST00000393654.3_Missense_Mutation_p.D942H|USP15_ENST00000353364.3_Missense_Mutation_p.D938H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	967					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGATAGCAATGATAATGACAA	0.398																																					Melanoma(181;615 2041 39364 49691 50001)												0													89	86	87					12																	62798108		2203	4300	6503	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2899G>C	12.37:g.62798108G>C	ENSP00000280377:p.Asp967His		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.D967H	ENST00000280377.5	37	c.2899	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142623	0.37825	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.21031	2.04;2.03;2.03	5.52	5.52	0.82312	.	0.232654	0.43260	D	0.000596	T	0.17704	0.0425	N	0.08118	0	0.48571	D	0.999677	B;P	0.35656	0.38;0.514	B;B	0.43575	0.243;0.424	T	0.17167	-1.0378	9	.	.	.	-14.7935	19.4419	0.94824	0.0:0.0:1.0:0.0	.	967;938	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	H	938;967;942	ENSP00000258123:D938H;ENSP00000280377:D967H;ENSP00000377264:D942H	.	D	+	1	0	USP15	61084375	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.054000	0.64275	2.593000	0.87608	0.650000	0.86243	GAT	USP15	-	NULL		0.398	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	G	NM_006313		62798108	1	no_errors	ENST00000280377	ensembl	human	known	70_37	missense	SNP	1.000	C	C	62798108	G	C	62798108	3	2	193	1	0	0	0	0	1	0	0	0	17077	1290	45	1	2894	1	USP15	12	62798108	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	8369990	62798108	71053787	258	36918										
TMBIM4	51643	genome.wustl.edu	37	chr12	66563707	66563707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtcctcgatcgaggagcgagGgtaccgggggtcggggtcag	20	9	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:66563707G>A	ENST00000358230.3	-	1	145	c.25C>T	c.(25-27)Cct>Tct	p.P9S	TMBIM4_ENST00000535812.1_5'UTR|TMBIM4_ENST00000539652.1_Missense_Mutation_p.P9S|TMBIM4_ENST00000398033.4_Missense_Mutation_p.P9S|TMBIM4_ENST00000544599.1_5'Flank|TMBIM4_ENST00000542724.1_5'UTR|TMBIM4_ENST00000556010.1_Missense_Mutation_p.P9S|TMBIM4_ENST00000286424.7_Missense_Mutation_p.P9S	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	9					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GAGGAGCGAGGGTACCGGGGG	0.657											OREG0021974	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15	22	19					12																	66563707		1880	3921	5801	SO:0001583	missense	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.25C>T	12.37:g.66563707G>A	ENSP00000350965:p.Pro9Ser	1092	Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.P9S	ENST00000358230.3	37	c.25	CCDS41805.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.20|18.20	3.570498|3.570498	0.65765|0.65765	.|.	.|.	ENSG00000155957|ENSG00000155957	ENST00000539427|ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043	.|T;T;T;T	.|0.37058	.|1.57;1.61;1.22;1.59	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.37561|0.37561	1.115|1.115	0.53688|0.53688	D|D	0.999976|0.999976	.|P;P;B;B	.|0.38617	.|0.64;0.57;0.38;0.017	.|B;B;B;B	.|0.40825	.|0.11;0.341;0.11;0.007	T|T	0.04579|0.04579	-1.0941|-1.0941	6|9	.|.	.|.	.|.	-10.8661|-10.8661	15.511|15.511	0.75782|0.75782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|9;9;9;9	.|E7EWY5;G3XAA5;E7EQ00;Q9HC24	.|.;.;.;TMBI4_HUMAN	L|S	8|9	.|ENSP00000451688:P9S;ENSP00000350965:P9S;ENSP00000286424:P9S;ENSP00000381114:P9S	.|.	P|P	-|-	2|1	0|0	TMBIM4|TMBIM4	64849974|64849974	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.025000|0.025000	0.11179|0.11179	3.700000|3.700000	0.54786|0.54786	2.563000|2.563000	0.86464|0.86464	0.563000|0.563000	0.77884|0.77884	CCC|CCT	TMBIM4	-	NULL		0.657	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	G	NM_016056		66563707	-1	no_errors	ENST00000358230	ensembl	human	known	70_37	missense	SNP	1.000	A	A	66563707	G	A	66563707	3	1	193	1	0	0	0	0	1	0	0	0	16012	1232	43	4	719	4	TMBIM4	12	66563707	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3765599	66563707	67288188	259	36919										
ACSS3	79611	genome.wustl.edu	37	chr12	81627245	81627245	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaatttctgcaggcgccattGaagaggtattgatgaatatt	11	5	1	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:81627245G>A	ENST00000548058.1	+	13	2624	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	ACSS3_ENST00000548324.1_Missense_Mutation_p.E254K|ACSS3_ENST00000261206.3_Missense_Mutation_p.E571K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	572						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGGCGCCATTGAAGAGGTATT	0.393																																																	0													180	177	178					12																	81627245		2203	4300	6503	SO:0001583	missense	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1714G>A	12.37:g.81627245G>A	ENSP00000449535:p.Glu572Lys		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.E572K	ENST00000548058.1	37	c.1714	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.629162	0.96671	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.79141	-1.24;-1.24;-1.24	5.84	5.84	0.93424	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.95672	0.8724	10	0.87932	D	0	-15.9603	19.7715	0.96367	0.0:0.0:1.0:0.0	.	254;572	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	K	572;571;254	ENSP00000449535:E572K;ENSP00000261206:E571K;ENSP00000448965:E254K	ENSP00000261206:E571K	E	+	1	0	ACSS3	80151376	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.282000	0.95840	2.777000	0.95525	0.650000	0.86243	GAA	ACSS3	-	pfam_AMP-dep_Synth/Lig		0.393	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	G	NM_024560		81627245	1	no_errors	ENST00000548058	ensembl	human	known	70_37	missense	SNP	1.000	A	A	81627245	G	A	81627245	3	1	193	1	0	0	0	0	1	0	0	0	190	1291	45	1	1764	1	ACSS3	12	81627245	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	15063538	81627245	52224650	260	36920										
C12orf63	144535	genome.wustl.edu	37	chr12	97051825	97051825	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aatctctggaagttttatatCaagtggaaaaatgggaaaca	9	4	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:97051825C>G	ENST00000524981.4	+	37	5289	c.5266C>G	c.(5266-5268)Caa>Gaa	p.Q1756E				Q96N23	CL055_HUMAN		0																	AGTTTTATATCAAGTGGAAAA	0.353																																																	0													83	89	87					12																	97051825		2203	4300	6503	SO:0001583	missense	144535																														ENST00000524981.4:c.5266C>G	12.37:g.97051825C>G	ENSP00000431759:p.Gln1756Glu			Missense_Mutation	SNP	NULL	p.Q181E	ENST00000524981.4	37	c.541		12	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542425	0.45280	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.04	4.09	0.47781	.	0.123730	0.37053	N	0.002277	T	0.41926	0.1180	L	0.50333	1.59	0.27093	N	0.962809	P	0.49783	0.928	P	0.47673	0.554	T	0.28364	-1.0046	9	0.22706	T	0.39	-12.2858	13.2638	0.60122	0.2714:0.7286:0.0:0.0	.	181	Q6ZTY8	CL063_HUMAN	E	1756;181	.	ENSP00000345466:Q181E	Q	+	1	0	C12orf63	95575956	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.360000	0.34125	2.504000	0.84457	0.462000	0.41574	CAA	C12orf55	-	NULL		0.353	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97051825	1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	1.000	G	G	97051825	C	G	97051825	3	3	193	1	0	0	0	0	1	0	0	0	1710	827	29	1	551	1	C12orf63	12	97051825	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	15424580	97051825	36800070	261	36921										
NUAK1	9891	genome.wustl.edu	37	chr12	106460991	106460991	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gagtatttgctgctgtgtttCaagatgcccttcctccggca	10	11	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:106460991C>T	ENST00000261402.2	-	7	2954	c.1575G>A	c.(1573-1575)ttG>ttA	p.L525L		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	525					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGCTGTGTTTCAAGATGCCCT	0.622																																																	0													67	74	71					12																	106460991		2203	4300	6503	SO:0001819	synonymous_variant	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1575G>A	12.37:g.106460991C>T			A7MD39|Q96KA8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L525	ENST00000261402.2	37	c.1575	CCDS31892.1	12																																																																																			NUAK1	-	NULL		0.622	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	C	NM_014840		106460991	-1	no_errors	ENST00000261402	ensembl	human	known	70_37	silent	SNP	1.000	T	T	106460991	C	T	106460991	2	4	193	1	0	0	0	0	0	0	0	1	10736	825	29	1		1	NUAK1	12	106460991	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	9409166	106460991	27390904	262	36922										
RIC8B	55188	genome.wustl.edu	37	chr12	107208551	107208551	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgtcctgcctggaagtactCcgcattctctccagagacaa	9	13	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:107208551C>T	ENST00000392839.2	+	3	316	c.210C>T	c.(208-210)ctC>ctT	p.L70L	RIC8B_ENST00000355478.2_Silent_p.L30L|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Silent_p.L70L	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	70					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TGGAAGTACTCCGCATTCTCT	0.403																																																	0													94	87	89					12																	107208551		2203	4300	6503	SO:0001819	synonymous_variant	55188			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.210C>T	12.37:g.107208551C>T			A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Silent	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.L70	ENST00000392839.2	37	c.210	CCDS9109.2	12																																																																																			RIC8B	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold		0.403	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	RIC8B	HGNC	protein_coding	OTTHUMT00000291398.2	C	NM_018157		107208551	1	no_errors	ENST00000392837	ensembl	human	known	70_37	silent	SNP	1.000	T	T	107208551	C	T	107208551	2	4	193	1	0	0	0	0	0	0	0	1	13386	842	30	1		1	RIC8B	12	107208551	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	747560	107208551	26643344	263	36923										
CMKLR1	1240	genome.wustl.edu	37	chr12	108686038	108686038	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggtagcaagctgtgatgatGaggactgggaccaggaagcc	16	7	0	3	rs372166234		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:108686038G>A	ENST00000312143.7	-	3	1065	c.702C>T	c.(700-702)ctC>ctT	p.L234L	CMKLR1_ENST00000397688.2_Silent_p.L232L|CMKLR1_ENST00000552995.1_Silent_p.L232L|CMKLR1_ENST00000412676.1_Silent_p.L234L|CMKLR1_ENST00000550402.1_Silent_p.L234L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	234					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CTGTGATGATGAGGACTGGGA	0.557																																																	0													61	66	64					12																	108686038		2141	4246	6387	SO:0001819	synonymous_variant	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.702C>T	12.37:g.108686038G>A			A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.L234	ENST00000312143.7	37	c.702	CCDS44965.1	12																																																																																			CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.557	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108686038	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	silent	SNP	0.131	A	A	108686038	G	A	108686038	2	1	193	1	0	0	0	0	0	0	0	1	3584	1277	45	1		1	CMKLR1	12	108686038	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1477487	108686038	25165857	264	36924										
COQ5	84274	genome.wustl.edu	37	chr12	120960131	120960131	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	catcatatcattcatcacatCatacttcttagccacacttt	1	13	6	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:120960131C>T	ENST00000288532.6	-	2	278	c.238G>A	c.(238-240)Gat>Aat	p.D80N	COQ5_ENST00000445328.2_Missense_Mutation_p.D80N	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	80					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			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)					TTCATCACATCATACTTCTTA	0.423																																																	0													227	191	203					12																	120960131		2203	4300	6503	SO:0001583	missense	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.238G>A	12.37:g.120960131C>T	ENSP00000288532:p.Asp80Asn		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.D80N	ENST00000288532.6	37	c.238	CCDS31912.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.873241	0.97049	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547736	T;T;T	0.75589	-0.95;-0.95;-0.95	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.098661	0.64402	D	0.000001	D	0.91348	0.7271	H	0.96430	3.82	0.44579	D	0.997549	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93235	0.6621	10	0.87932	D	0	.	19.905	0.97004	0.0:1.0:0.0:0.0	.	80;80	B4DP72;Q5HYK3	.;COQ5_HUMAN	N	80;80;80;54	ENSP00000288532:D80N;ENSP00000401798:D80N;ENSP00000449933:D54N	ENSP00000288532:D80N	D	-	1	0	COQ5	119444514	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	7.594000	0.82698	2.804000	0.96469	0.462000	0.41574	GAT	COQ5	-	pfam_UbiE/COQ5_MeTrFase		0.423	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2	C	NM_032314		120960131	-1	no_errors	ENST00000288532	ensembl	human	known	70_37	missense	SNP	1.000	T	T	120960131	C	T	120960131	3	4	193	1	0	0	0	0	1	0	0	0	3753	826	29	1	769	1	COQ5	12	120960131	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	12274093	120960131	12891764	265	36925										
ZCCHC8	55596	genome.wustl.edu	37	chr12	122962766	122962766	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tatttaccgcttggaagttaGaagtaaggtaattggcaaac	10	5	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:122962766G>C	ENST00000336229.4	-	12	1344	c.1214C>G	c.(1213-1215)tCt>tGt	p.S405C	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.S16C|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.S167C|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.S167C	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	405					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGGAAGTTAGAAGTAAGGTA	0.378																																																	0													61	56	57					12																	122962766		1903	4121	6024	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1214C>G	12.37:g.122962766G>C	ENSP00000337313:p.Ser405Cys		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.S405C	ENST00000336229.4	37	c.1214		12	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348953	0.82132	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054;ENST00000536663	T;T;T;T	0.52295	0.79;0.79;0.78;0.67	5.94	5.94	0.96194	.	0.203591	0.50627	D	0.000114	T	0.60483	0.2272	L	0.56769	1.78	0.41225	D	0.98653	D	0.62365	0.991	P	0.52710	0.707	T	0.61623	-0.7025	10	0.66056	D	0.02	-16.3726	20.3736	0.98901	0.0:0.0:1.0:0.0	.	405	Q6NZY4	ZCHC8_HUMAN	C	167;167;405;16;16;167;167	ENSP00000441423:S167C;ENSP00000438993:S167C;ENSP00000337313:S405C;ENSP00000440028:S16C	ENSP00000337313:S405C	S	-	2	0	ZCCHC8	121528719	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.534000	0.60622	2.820000	0.97059	0.650000	0.86243	TCT	ZCCHC8	-	NULL		0.378	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		G	NM_017612		122962766	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	missense	SNP	1.000	C	C	122962766	G	C	122962766	3	2	193	1	0	0	0	0	1	0	0	0	17624	942	33	1	921	1	ZCCHC8	12	122962766	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2002635	122962766	10889129	266	36926										
UBC	7316	genome.wustl.edu	37	chr12	125396452	125396452	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcactgggctccacctcgagGgtgatggtcttaccagtcag	12	12	3	1	rs71458872		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:125396452G>T	ENST00000538617.1	-	4	1042	c.726C>A	c.(724-726)acC>acA	p.T242T	UBC_ENST00000536769.1_Silent_p.T622T|UBC_ENST00000339647.5_Silent_p.T622T|UBC_ENST00000546120.1_Silent_p.T546T|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	622	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCACCTCGAGGGTGATGGTCT	0.527																																																	0																																										SO:0001819	synonymous_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.726C>A	12.37:g.125396452G>T			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.T622	ENST00000538617.1	37	c.1866		12																																																																																			UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.527	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	G	NM_021009		125396452	-1	no_errors	ENST00000339647	ensembl	human	known	70_37	silent	SNP	1.000	T	T	125396452	G	T	125396452	2	4	193	1	0	0	0	0	0	0	0	1	16873	1219	43	4		4	UBC	12	125396452	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2433686	125396452	8455443	267	36927										
ANKLE2	23141	genome.wustl.edu	37	chr12	133306407	133306407	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtggccattcccgagttggtCtgcgggagaaggctctaaca	14	10	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:133306407C>T	ENST00000357997.5	-	11	2430	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N	ANKLE2_ENST00000542282.1_Missense_Mutation_p.D136N|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542657.1_Missense_Mutation_p.D136N|ANKLE2_ENST00000539605.1_Missense_Mutation_p.D719N	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	781					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CCGAGTTGGTCTGCGGGAGAA	0.483																																																	0													132	129	130					12																	133306407		2013	4176	6189	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2341G>A	12.37:g.133306407C>T	ENSP00000350686:p.Asp781Asn		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM	p.D781N	ENST00000357997.5	37	c.2341	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	C	8.478	0.859128	0.17178	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.42900	1.96;1.96;0.96;0.96;0.96	3.55	2.61	0.31194	.	1.350460	0.04067	N	0.307364	T	0.36908	0.0984	L	0.47716	1.5	0.27044	N	0.963931	B	0.18741	0.03	B	0.15052	0.012	T	0.29518	-1.0009	10	0.07813	T	0.8	-10.3565	10.9062	0.47081	0.0:0.8085:0.1915:0.0	.	781	Q86XL3	ANKL2_HUMAN	N	719;781;136;136;136	ENSP00000446268:D719N;ENSP00000350686:D781N;ENSP00000437807:D136N;ENSP00000438551:D136N;ENSP00000445760:D136N	ENSP00000350686:D781N	D	-	1	0	ANKLE2	131816480	0.016000	0.18221	0.005000	0.12908	0.018000	0.09664	1.711000	0.37930	0.760000	0.33108	0.645000	0.84053	GAC	ANKLE2	-	NULL		0.483	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	C			133306407	-1	no_errors	ENST00000357997	ensembl	human	known	70_37	missense	SNP	0.029	T	T	133306407	C	T	133306407	3	4	193	1	0	0	0	0	1	0	0	0	633	913	32	1	487	1	ANKLE2	12	133306407	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	7909955	133306407	545488	268	36928										
SACS	26278	genome.wustl.edu	37	chr13	23907900	23907900	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atttttctgctctaaatgttGaagtttggaccatataatgt	7	5	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:23907900G>A	ENST00000382292.3	-	9	10388	c.10115C>T	c.(10114-10116)tCa>tTa	p.S3372L	SACS_ENST00000402364.1_Missense_Mutation_p.S2622L|SACS_ENST00000382298.3_Missense_Mutation_p.S3372L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3372					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTAAATGTTGAAGTTTGGAC	0.348																																																	0													75	73	74					13																	23907900		2203	4299	6502	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10115C>T	13.37:g.23907900G>A	ENSP00000371729:p.Ser3372Leu		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.S3372L	ENST00000382292.3	37	c.10115	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684187	0.68157	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87966	-2.18;-2.32;-2.18	5.94	5.94	0.96194	.	0.068069	0.64402	D	0.000009	T	0.79868	0.4520	L	0.27053	0.805	0.49915	D	0.999838	P	0.43094	0.799	B	0.35039	0.194	T	0.78127	-0.2325	10	0.24483	T	0.36	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	3372	Q9NZJ4	SACS_HUMAN	L	3372;2622;3372	ENSP00000371729:S3372L;ENSP00000385844:S2622L;ENSP00000371735:S3372L	ENSP00000371729:S3372L	S	-	2	0	SACS	22805900	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.826000	0.97356	0.561000	0.74099	TCA	SACS	-	NULL		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23907900	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	1.000	A	A	23907900	G	A	23907900	3	1	193	1	0	0	0	0	1	0	0	0	13834	1294	45	1	3628	1	SACS	13	23907900	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		23907900	91261978	269	36929										
PAN3	255967	genome.wustl.edu	37	chr13	28794441	28794441	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gctgagtaacgtgtcccagtCaaatatgtctgccttctctc	8	12	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:28794441C>G	ENST00000380958.3	+	6	1078	c.926C>G	c.(925-927)tCa>tGa	p.S309*	PAN3_ENST00000399613.1_Nonsense_Mutation_p.S109*	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.S109*(1)|p.S309*(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTGTCCCAGTCAAATATGTCT	0.428																																																	2	Substitution - Nonsense(2)	lung(2)											204	197	199					13																	28794441		2203	4300	6503	SO:0001587	stop_gained	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.926C>G	13.37:g.28794441C>G	ENSP00000370345:p.Ser309*			Nonsense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.S309*	ENST00000380958.3	37	c.926	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	C	36	5.932052	0.97116	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	.	.	.	5.88	5.88	0.94601	.	0.119337	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-8.1051	20.2371	0.98361	0.0:1.0:0.0:0.0	.	.	.	.	X	309;109	.	ENSP00000370345:S309X	S	+	2	0	PAN3	27692441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.642000	0.67888	2.788000	0.95919	0.555000	0.69702	TCA	PAN3	-	NULL		0.428	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	C	NM_175854		28794441	1	no_errors	ENST00000380958	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	28794441	C	G	28794441	4	3	193	1	0	0	0	0	0	1	0	0	11439	838	29	1	948	1	PAN3	13	28794441	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4886541	28794441	86375437	270	36930										
N4BP2L1	90634	genome.wustl.edu	37	chr13	32981467	32981467	+	Missense_Mutation	SNP	C	C	T													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggatatgccattcctcattgCttttcttgctgcaacacaat							TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:32981467C>T	ENST00000380133.2	-	3	366	c.316G>A	c.(316-318)Gca>Aca	p.A106T	N4BP2L1_ENST00000530622.2_5'UTR|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.A106T|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.A106T			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	106										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TTCCTCATTGCTTTTCTTGCT	0.408																																																	0													164	144	151					13																	32981467		2203	4300	6503	SO:0001583	missense	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.316G>A	13.37:g.32981467C>T	ENSP00000369476:p.Ala106Thr		A4QN21|Q5TBK0	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.A106T	ENST00000380133.2	37	c.316	CCDS9345.2	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.691081|4.691081	0.88735|0.88735	.|.	.|.	ENSG00000139597|ENSG00000139597	ENST00000380130;ENST00000380139;ENST00000380133|ENST00000343281	T;T;T|.	0.48836|.	0.8;0.8;0.8|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Zeta toxin domain (1);|.	0.191535|.	0.35936|.	N|.	0.002897|.	T|T	0.58666|0.58666	0.2138|0.2138	L|L	0.28740|0.28740	0.885|0.885	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.91635|.	0.922;0.999|.	T|T	0.53215|0.53215	-0.8470|-0.8470	10|5	0.72032|.	D|.	0.01|.	.|.	19.0643|19.0643	0.93104|0.93104	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106;106|.	Q5TBK1-2;Q5TBK1|.	.;N42L1_HUMAN|.	T|N	106|83	ENSP00000369473:A106T;ENSP00000369484:A106T;ENSP00000369476:A106T|.	ENSP00000369473:A106T|.	A|S	-|-	1|2	0|0	N4BP2L1|N4BP2L1	31879467|31879467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.259000|6.259000	0.72494|0.72494	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GCA|AGC	N4BP2L1	-	pfam_Zeta_toxin_domain		0.408	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	N4BP2L1	HGNC	protein_coding	OTTHUMT00000044412.2	C	NM_052818		32981467	-1	no_errors	ENST00000380130	ensembl	human	known	70_37	missense	SNP	1.000	T	T	32981467	C	T	32981467	3	4	193	1	0	0	0	0	1	0	0	0	10134	797	28	4	500	4	N4BP2L1	13	32981467	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4187026	32981467	82188411	271	36931	233	2								
N4BP2L1	90634	genome.wustl.edu	37	chr13	32981472	32981472	+	Missense_Mutation	SNP	C	C	G													0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgccattcctcattgcttttCttgctgcaacacaatgttac							TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:32981472C>G	ENST00000380133.2	-	3	361	c.311G>C	c.(310-312)aGa>aCa	p.R104T	N4BP2L1_ENST00000530622.2_5'UTR|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.R104T|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.R104T			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	104										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CATTGCTTTTCTTGCTGCAAC	0.418																																																	0													158	139	145					13																	32981472		2203	4300	6503	SO:0001583	missense	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.311G>C	13.37:g.32981472C>G	ENSP00000369476:p.Arg104Thr		A4QN21|Q5TBK0	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.R104T	ENST00000380133.2	37	c.311	CCDS9345.2	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.71|19.71	3.877632|3.877632	0.72294|0.72294	.|.	.|.	ENSG00000139597|ENSG00000139597	ENST00000343281|ENST00000380130;ENST00000380139;ENST00000380133	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Zeta toxin domain (1);	.|0.091515	.|0.41194	.|D	.|0.000927	T|T	0.58264|0.58264	0.2110|0.2110	L|L	0.39467|0.39467	1.215|1.215	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.866;1.0	.|P;D	.|0.87578	.|0.503;0.998	T|T	0.58070|0.58070	-0.7701|-0.7701	5|10	.|0.52906	.|T	.|0.07	.|.	19.0643|19.0643	0.93104|0.93104	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|104;104	.|Q5TBK1-2;Q5TBK1	.|.;N42L1_HUMAN	N|T	81|104	.|ENSP00000369473:R104T;ENSP00000369484:R104T;ENSP00000369476:R104T	.|ENSP00000369473:R104T	K|R	-|-	3|2	2|0	N4BP2L1|N4BP2L1	31879472|31879472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.604000|3.604000	0.54081|0.54081	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	AAG|AGA	N4BP2L1	-	pfam_Zeta_toxin_domain		0.418	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	N4BP2L1	HGNC	protein_coding	OTTHUMT00000044412.2	C	NM_052818		32981472	-1	no_errors	ENST00000380130	ensembl	human	known	70_37	missense	SNP	1.000	G	G	32981472	C	G	32981472	3	3	193	1	0	0	0	0	1	0	0	0	10134	913	32	1	505	1	N4BP2L1	13	32981472	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	5	32981472	82188406	272	36932	233	2								
FREM2	341640	genome.wustl.edu	37	chr13	39265951	39265951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cagctgcaactggctggaaaCaaaatctactacatccacac	6	13	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:39265951C>A	ENST00000280481.7	+	1	4686	c.4470C>A	c.(4468-4470)aaC>aaA	p.N1490K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1490					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCTGGAAACAAAATCTACT	0.483																																																	0													89	80	83					13																	39265951		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4470C>A	13.37:g.39265951C>A	ENSP00000280481:p.Asn1490Lys		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.N1490K	ENST00000280481.7	37	c.4470	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361576	0.41801	.	.	ENSG00000150893	ENST00000280481	T	0.26223	1.75	6.08	5.24	0.73138	.	0.041856	0.85682	D	0.000000	T	0.44705	0.1306	M	0.83312	2.635	0.58432	D	0.999997	D	0.56287	0.975	P	0.55161	0.77	T	0.48103	-0.9064	10	0.54805	T	0.06	.	9.4437	0.38684	0.0:0.7784:0.0:0.2216	.	1490	Q5SZK8	FREM2_HUMAN	K	1490	ENSP00000280481:N1490K	ENSP00000280481:N1490K	N	+	3	2	FREM2	38163951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.796000	0.26986	1.594000	0.50039	0.655000	0.94253	AAC	FREM2	-	NULL		0.483	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	C	NM_207361		39265951	1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	1.000	A	A	39265951	C	A	39265951	3	1	193	1	0	0	0	0	1	0	0	0	6063	477	17	4	4472	4	FREM2	13	39265951	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	6284479	39265951	75903927	273	36933										
KBTBD7	84078	genome.wustl.edu	37	chr13	41768355	41768355	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctcccaccacggggactggcGaggcggcgagagcgcgggac	18	14	0	1	rs145321458	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:41768355G>A	ENST00000379483.3	-	1	347	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	13										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GGGGACTGGCGAGGCGGCGAG	0.657																																																	0													47	55	52					13																	41768355		2202	4300	6502	SO:0001819	synonymous_variant	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.39C>T	13.37:g.41768355G>A			B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L13	ENST00000379483.3	37	c.39	CCDS9377.1	13																																																																																			KBTBD7	-	pirsf_Kelch-like_gigaxonin		0.657	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	G	NM_032138		41768355	-1	no_errors	ENST00000379483	ensembl	human	known	70_37	silent	SNP	0.856	A	A	41768355	G	A	41768355	2	1	193	1	0	0	0	0	0	0	0	1	8018	1045	37	1		1	KBTBD7	13	41768355	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2502404	41768355	73401523	274	36934										
WDFY2	115825	genome.wustl.edu	37	chr13	52293346	52293346	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gttttcagcgcatcagagcaGagtgacgatgatcctgtttg	12	8	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:52293346G>C	ENST00000298125.5	+	5	527	c.347G>C	c.(346-348)aGa>aCa	p.R116T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	116							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CATCAGAGCAGAGTGACGATG	0.512																																																	0													144	131	135					13																	52293346		2203	4300	6503	SO:0001583	missense	115825			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.347G>C	13.37:g.52293346G>C	ENSP00000298125:p.Arg116Thr		B1AL86|Q96CS1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R116T	ENST00000298125.5	37	c.347	CCDS9429.1	13	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299100	0.60195	.	.	ENSG00000139668	ENST00000298125	T	0.65364	-0.15	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045076	0.85682	D	0.000000	T	0.62865	0.2463	M	0.66378	2.025	0.80722	D	1	P;B	0.47762	0.9;0.039	P;B	0.44811	0.461;0.018	T	0.61758	-0.6997	10	0.08837	T	0.75	-17.9355	17.8594	0.88776	0.0:0.0:1.0:0.0	.	13;116	Q96LK4;Q96P53	.;WDFY2_HUMAN	T	116	ENSP00000298125:R116T	ENSP00000298125:R116T	R	+	2	0	WDFY2	51191347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.459000	0.83118	0.650000	0.86243	AGA	WDFY2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.512	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	HGNC	protein_coding	OTTHUMT00000045985.3	G	NM_052950		52293346	1	no_errors	ENST00000298125	ensembl	human	known	70_37	missense	SNP	1.000	C	C	52293346	G	C	52293346	3	2	193	1	0	0	0	0	1	0	0	0	17300	942	33	1	365	1	WDFY2	13	52293346	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	10524991	52293346	62876532	275	36935										
PCDH8	5100	genome.wustl.edu	37	chr13	53419040	53419040	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cggtcagagtggcccaggatCttacactcagcggtgcacgc	13	13	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:53419040C>G	ENST00000377942.3	-	3	3071	c.2868G>C	c.(2866-2868)aaG>aaC	p.K956N	PCDH8_ENST00000338862.4_Missense_Mutation_p.K859N	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	956			K -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.K956N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCCCAGGATCTTACACTCAG	0.532																																					GBM(36;25 841 9273 49207)												1	Substitution - Missense(1)	breast(1)											84	57	66					13																	53419040		2203	4300	6503	SO:0001583	missense	5100			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2868G>C	13.37:g.53419040C>G	ENSP00000367177:p.Lys956Asn		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K956N	ENST00000377942.3	37	c.2868	CCDS9438.1	13	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710190	0.68730	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.54866	0.62;0.55	5.95	5.95	0.96441	.	0.000000	0.46442	D	0.000299	T	0.67468	0.2896	L	0.43152	1.355	0.44890	D	0.997909	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.946	T	0.65915	-0.6052	10	0.56958	D	0.05	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	859;956	O95206-2;O95206	.;PCDH8_HUMAN	N	956;859;482;799	ENSP00000367177:K956N;ENSP00000341350:K859N	ENSP00000341350:K859N	K	-	3	2	PCDH8	52317041	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.980000	0.49321	2.817000	0.96982	0.563000	0.77884	AAG	PCDH8	-	NULL		0.532	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH8	HGNC	protein_coding	OTTHUMT00000045108.2	C	NM_002590		53419040	-1	no_errors	ENST00000377942	ensembl	human	known	70_37	missense	SNP	1.000	G	G	53419040	C	G	53419040	3	3	193	1	0	0	0	0	1	0	0	0	11541	912	32	1	348	1	PCDH8	13	53419040	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1125694	53419040	61750838	276	36936										
FARP1	10160	genome.wustl.edu	37	chr13	99047520	99047520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttacatttggagaaggtgccGaatctccagggggccagagc	14	9	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:99047520G>A	ENST00000319562.6	+	13	1469	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	FARP1_ENST00000595437.1_Missense_Mutation_p.E402K|FARP1_ENST00000376586.2_Missense_Mutation_p.E402K	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	402					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGAAGGTGCCGAATCTCCAGG	0.632																																																	0													33	40	38					13																	99047520		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1204G>A	13.37:g.99047520G>A	ENSP00000322926:p.Glu402Lys		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E402K	ENST00000319562.6	37	c.1204	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183092	0.21870	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.78126	-1.15;-0.98	4.8	3.93	0.45458	.	1.063860	0.07259	N	0.867162	T	0.69124	0.3076	L	0.36672	1.1	0.09310	N	1	B;B	0.22003	0.018;0.063	B;B	0.14578	0.004;0.011	T	0.48055	-0.9068	10	0.10111	T	0.7	.	13.4121	0.60948	0.0:0.3014:0.6986:0.0	.	402;402	Q9Y4F1;C9JME2	FARP1_HUMAN;.	K	402;107;402	ENSP00000365771:E402K;ENSP00000322926:E402K	ENSP00000322926:E402K	E	+	1	0	FARP1	97845521	0.898000	0.30612	0.001000	0.08648	0.038000	0.13279	2.339000	0.43965	0.970000	0.38263	0.462000	0.41574	GAA	FARP1	-	NULL		0.632	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	G	NM_005766		99047520	1	no_errors	ENST00000376586	ensembl	human	known	70_37	missense	SNP	0.002	A	A	99047520	G	A	99047520	3	1	193	1	0	0	0	0	1	0	0	0	5694	1059	37	1	1473	1	FARP1	13	99047520	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	45628480	99047520	16122358	277	36937										
APEX1	328	genome.wustl.edu	37	chr14	20925478	20925478	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gctgacagctttaggcacctCtaccccaacacaccctatgc	6	17	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:20925478C>G	ENST00000216714.3	+	5	1036	c.768C>G	c.(766-768)ctC>ctG	p.L256L	APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000556252.1_5'Flank|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Silent_p.L256L|APEX1_ENST00000398030.4_Silent_p.L256L	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	256					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TTAGGCACCTCTACCCCAACA	0.502								Other BER factors																																									0													189	161	170					14																	20925478		2203	4300	6503	SO:0001819	synonymous_variant	328			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.768C>G	14.37:g.20925478C>G			Q969L5|Q99775	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.L256	ENST00000216714.3	37	c.768	CCDS9550.1	14																																																																																			APEX1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III		0.502	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX1	HGNC	protein_coding	OTTHUMT00000073641.3	C	NM_001641		20925478	1	no_errors	ENST00000216714	ensembl	human	known	70_37	silent	SNP	0.635	G	G	20925478	C	G	20925478	2	3	193	1	0	0	0	0	0	0	0	1	769	900	32	1		1	APEX1	14	20925478	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		20925478	86424062	278	36938										
ACIN1	22985	genome.wustl.edu	37	chr14	23528476	23528476	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtccctttccctatcccgatCtcggtcccccctgtcccgct	6	21	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:23528476C>T	ENST00000262710.1	-	19	4234	c.3907G>A	c.(3907-3909)Gat>Aat	p.D1303N	ACIN1_ENST00000555053.1_Missense_Mutation_p.D1290N|ACIN1_ENST00000457657.1_Missense_Mutation_p.D1263N|CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000338631.6_Missense_Mutation_p.D576N|ACIN1_ENST00000397341.3_Missense_Mutation_p.D545N|ACIN1_ENST00000605057.1_Missense_Mutation_p.D1245N|ACIN1_ENST00000357481.2_Missense_Mutation_p.D545N|ACIN1_ENST00000557515.1_Missense_Mutation_p.D544N	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1303	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTATCCCGATCTCGGTCCCcc	0.637											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													130	101	111					14																	23528476		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3907G>A	14.37:g.23528476C>T	ENSP00000262710:p.Asp1303Asn	764	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.D1303N	ENST00000262710.1	37	c.3907	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700464	0.48307	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.05	4.05	0.47172	.	0.573873	0.14484	N	0.316767	T	0.30603	0.0770	N	0.08118	0	0.29893	N	0.825034	B;B;B;B;B	0.26445	0.13;0.079;0.023;0.149;0.149	B;B;B;B;B	0.23574	0.047;0.021;0.015;0.023;0.023	T	0.28681	-1.0036	10	0.49607	T	0.09	-1.7347	15.4933	0.75629	0.0:1.0:0.0:0.0	.	1290;1303;1263;576;545	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	N	544;576;545;1303;1263;545;1290	ENSP00000451138:D544N;ENSP00000345541:D576N;ENSP00000350073:D545N;ENSP00000262710:D1303N;ENSP00000405677:D1263N;ENSP00000380502:D545N;ENSP00000451328:D1290N	ENSP00000262710:D1303N	D	-	1	0	ACIN1	22598316	0.990000	0.36364	0.736000	0.30914	0.268000	0.26511	3.948000	0.56660	2.261000	0.74972	0.563000	0.77884	GAT	ACIN1	-	NULL		0.637	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	C	NM_014977		23528476	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	missense	SNP	0.982	T	T	23528476	C	T	23528476	3	4	193	1	0	0	0	0	1	0	0	0	142	913	32	1	122	1	ACIN1	14	23528476	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2602998	23528476	83821064	279	36939										
IRF9	10379	genome.wustl.edu	37	chr14	24632271	24632271	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgcactcaacaagagttctGaatttaaggaggttcctgag	11	7	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:24632271G>C	ENST00000396864.3	+	3	564	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	93					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAAGAGTTCTGAATTTAAGGA	0.532																																																	0													87	84	85					14																	24632271		2203	4300	6503	SO:0001583	missense	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.277G>C	14.37:g.24632271G>C	ENSP00000380073:p.Glu93Gln		D3DS61	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.E93Q	ENST00000396864.3	37	c.277	CCDS9615.1	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977256	0.74360	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.97976	-4.64;-4.61	5.09	5.09	0.68999	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.64402	U	0.000003	D	0.98717	0.9569	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99787	1.1030	10	0.66056	D	0.02	-2.5624	17.2683	0.87093	0.0:0.0:1.0:0.0	.	93	Q00978	IRF9_HUMAN	Q	93;23	ENSP00000380073:E93Q;ENSP00000313529:E23Q	ENSP00000313529:E23Q	E	+	1	0	IRF9	23702111	1.000000	0.71417	0.930000	0.37139	0.235000	0.25334	8.997000	0.93544	2.379000	0.81126	0.655000	0.94253	GAA	IRF9	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom		0.532	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	HGNC	protein_coding	OTTHUMT00000071927.2	G			24632271	1	no_errors	ENST00000396864	ensembl	human	known	70_37	missense	SNP	1.000	C	C	24632271	G	C	24632271	3	2	193	1	0	0	0	0	1	0	0	0	7857	1291	45	1	283	1	IRF9	14	24632271	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1103795	24632271	82717269	280	36940										
C14orf166	51637	genome.wustl.edu	37	chr14	52458093	52458093	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaccagaaaatcaggcactaCaagattgaagacagagggaa	11	7	1	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:52458093C>G	ENST00000261700.3	+	2	285	c.120C>G	c.(118-120)taC>taG	p.Y40*	C14orf166_ENST00000556760.1_Nonsense_Mutation_p.Y40*	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	40					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					TCAGGCACTACAAGATTGAAG	0.348																																																	0													77	77	77					14																	52458093		2203	4300	6503	SO:0001587	stop_gained	51637			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"RLL motif containing 1"	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.120C>G	14.37:g.52458093C>G	ENSP00000261700:p.Tyr40*			Nonsense_Mutation	SNP	pfam_UPF0568	p.Y40*	ENST00000261700.3	37	c.120	CCDS9705.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.923703	0.97110	.	.	ENSG00000087302	ENST00000261700;ENST00000556760	.	.	.	4.89	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6026	9.5698	0.39420	0.0:0.8363:0.0:0.1637	.	.	.	.	X	40	.	ENSP00000261700:Y40X	Y	+	3	2	C14orf166	51527843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.012000	0.49575	1.199000	0.43173	0.484000	0.47621	TAC	C14orf166	-	pfam_UPF0568		0.348	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166	HGNC	protein_coding	OTTHUMT00000276887.1	C	NM_016039		52458093	1	no_errors	ENST00000261700	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	52458093	C	G	52458093	4	3	193	1	0	0	0	0	0	1	0	0	1760	489	17	4	126	4	C14orf166	14	52458093	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	27825822	52458093	54891447	281	36941										
BMP4	652	genome.wustl.edu	37	chr14	54418628	54418628	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggccgggcgctcaggatactCaagaccagtgctgtggatct	14	11	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:54418628C>G	ENST00000245451.4	-	3	706	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	BMP4_ENST00000558984.1_Missense_Mutation_p.E105Q|BMP4_ENST00000417573.1_Missense_Mutation_p.E105Q|BMP4_ENST00000559087.1_Missense_Mutation_p.E105Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	105					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TCAGGATACTCAAGACCAGTG	0.622																																																	0													66	73	71					14																	54418628		2203	4300	6503	SO:0001583	missense	652			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.313G>C	14.37:g.54418628C>G	ENSP00000245451:p.Glu105Gln		Q9UM80	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.E105Q	ENST00000245451.4	37	c.313	CCDS9715.1	14	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412778	0.25465	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.65178	-0.14;-0.14	5.31	5.31	0.75309	Transforming growth factor-beta, N-terminal (1);	0.110266	0.64402	D	0.000011	T	0.41971	0.1182	N	0.08118	0	0.53005	D	0.999961	B	0.17038	0.02	B	0.16722	0.016	T	0.28427	-1.0044	10	0.23891	T	0.37	.	14.4347	0.67272	0.0:0.8412:0.1588:0.0	.	105	P12644	BMP4_HUMAN	Q	105	ENSP00000245451:E105Q;ENSP00000394165:E105Q	ENSP00000245451:E105Q	E	-	1	0	BMP4	53488378	1.000000	0.71417	0.986000	0.45419	0.387000	0.30353	3.248000	0.51430	2.763000	0.94921	0.563000	0.77884	GAG	BMP4	-	pfam_TGF-b_N		0.622	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP4	HGNC	protein_coding	OTTHUMT00000276894.2	C	NM_001202		54418628	-1	no_errors	ENST00000245451	ensembl	human	known	70_37	missense	SNP	1.000	G	G	54418628	C	G	54418628	3	3	193	1	0	0	0	0	1	0	0	0	1463	835	29	1	921	1	BMP4	14	54418628	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1960535	54418628	52930912	282	36942										
SYNE2	23224	genome.wustl.edu	37	chr14	64644154	64644154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggcacaaagtgaagatcctCttccagagcttcacgaggac	10	11	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:64644154C>T	ENST00000344113.4	+	96	17721	c.17509C>T	c.(17509-17511)Ctt>Ttt	p.L5837F	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.L2222F|SYNE2_ENST00000394768.2_Missense_Mutation_p.L2222F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5702F|SYNE2_ENST00000555002.1_Missense_Mutation_p.L2471F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5837F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5837					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGATCCTCTTCCAGAGCT	0.388																																																	0													88	90	89					14																	64644154		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17509C>T	14.37:g.64644154C>T	ENSP00000341781:p.Leu5837Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L5837F	ENST00000344113.4	37	c.17509	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770193	0.90108	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.78003	-1.07;-1.07;-1.07;-1.14;-1.07;-1.07	6.07	6.07	0.98685	.	0.000000	0.50627	D	0.000102	D	0.89339	0.6687	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.996;0.957;0.999;0.993;0.996	D	0.87957	0.2727	10	0.48119	T	0.1	.	20.6452	0.99591	0.0:1.0:0.0:0.0	.	2222;225;5702;5837;5837	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	F	5837;2222;5837;5702;5708;2471;2222	ENSP00000350719:L5837F;ENSP00000349969:L2222F;ENSP00000341781:L5837F;ENSP00000452570:L5702F;ENSP00000450831:L2471F;ENSP00000378249:L2222F	ENSP00000261678:L5708F	L	+	1	0	SYNE2	63713907	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.243000	0.65395	2.885000	0.99019	0.650000	0.86243	CTT	SYNE2	-	smart_Spectrin/alpha-actinin		0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64644154	1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	T	T	64644154	C	T	64644154	3	4	193	1	0	0	0	0	1	0	0	0	15476	913	32	1	17887	1	SYNE2	14	64644154	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	10225526	64644154	42705386	283	36943										
SYNE2	23224	genome.wustl.edu	37	chr14	64691728	64691728	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acccagcagttcagagcagtGagaactacagaaggcgagga	13	9	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:64691728G>T	ENST00000344113.4	+	114	20627	c.20415G>T	c.(20413-20415)gtG>gtT	p.V6805V	SYNE2_ENST00000458046.2_Silent_p.V476V|SYNE2_ENST00000555022.1_Silent_p.V683V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Silent_p.V349V|SYNE2_ENST00000357395.3_Silent_p.V3190V|SYNE2_ENST00000394768.2_Silent_p.V3190V|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E6726*|SYNE2_ENST00000555002.1_Silent_p.V3461V|SYNE2_ENST00000358025.3_Silent_p.V6827V|SYNE2_ENST00000554805.1_Silent_p.V588V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6805					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGAGCAGTGAGAACTACAG	0.448																																																	0													69	69	69					14																	64691728		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20415G>T	14.37:g.64691728G>T			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_Calpain_domain_III,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain	p.E6726*	ENST00000344113.4	37	c.20176	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	58	30.495036	0.99977	.	.	ENSG00000054654	ENST00000554584;ENST00000261678	.	.	.	6.17	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1817	0.31315	0.3998:0.0:0.6002:0.0	.	.	.	.	X	6726;6732	.	ENSP00000261678:E6732X	E	+	1	0	SYNE2	63761481	0.145000	0.22656	0.000000	0.03702	0.010000	0.07245	0.765000	0.26546	0.173000	0.19788	0.655000	0.94253	GAG	SYNE2	-	NULL		0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64691728	1	no_errors	ENST00000554584	ensembl	human	novel	70_37	nonsense	SNP	0.000	T	T	64691728	G	T	64691728	2	4	193	1	0	0	0	0	0	0	0	1	15476	1277	45	3		3	SYNE2	14	64691728	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	47574	64691728	42657812	284	36944										
FAM71D	161142	genome.wustl.edu	37	chr14	67671768	67671768	+	3'UTR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgggagtcacagtggtgtttGaaaacaatgacttaatcagg	12	6	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:67671768G>C	ENST00000556046.1	+	0	1415							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		AGTGGTGTTTGAAAACAATGA	0.433																																																	0													11	12	12					14																	67671768		1996	3963	5959	SO:0001624	3_prime_UTR_variant	161142				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 54"	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*930G>C	14.37:g.67671768G>C			Q86VN4	Missense_Mutation	SNP	pfam_DUF3699	p.E292Q	ENST00000556046.1	37	c.874		14	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831066	0.71258	.	.	ENSG00000172717	ENST00000556117	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	L	0.36672	1.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6393	12.4219	0.55524	0.0:0.0:1.0:0.0	.	.	.	.	S	35	.	.	X	+	2	2	FAM71D	66741521	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.703000	0.54808	2.634000	0.89283	0.591000	0.81541	TGA	FAM71D	-	NULL		0.433	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	FAM71D	HGNC	protein_coding	OTTHUMT00000412390.1	G	NM_173526		67671768	1	no_errors	ENST00000311864	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67671768	G	C	67671768	1	2	193	0	1	0	0	0	0	0	0	0	5628	1291	45	1		1	FAM71D	14	67671768	3'UTR	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2980040	67671768	39677772	285	36945										
SIPA1L1	26037	genome.wustl.edu	37	chr14	72176352	72176352	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acaagggagaacagcaccttCagtataaacgatgctgcttc	9	10	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:72176352C>T	ENST00000555818.1	+	15	4590	c.4242C>T	c.(4240-4242)ttC>ttT	p.F1414F	SIPA1L1_ENST00000358550.2_Silent_p.F1393F|SIPA1L1_ENST00000537413.1_Silent_p.F868F|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Silent_p.F1393F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1414	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACAGCACCTTCAGTATAAACG	0.572																																																	0													70	64	66					14																	72176352		2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4242C>T	14.37:g.72176352C>T			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.F1414	ENST00000555818.1	37	c.4242	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL		0.572	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	C	NM_015556		72176352	1	no_errors	ENST00000555818	ensembl	human	known	70_37	silent	SNP	1.000	T	T	72176352	C	T	72176352	2	4	193	1	0	0	0	0	0	0	0	1	14359	825	29	1		1	SIPA1L1	14	72176352	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4504584	72176352	35173188	286	36946										
KIAA0284	283638	genome.wustl.edu	37	chr14	105351721	105351721	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggcaggtctttggggtgttgGagtcccctgaactctccagg	15	10	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:105351721G>C	ENST00000414716.3	+	10	2014	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q	CEP170B_ENST00000418279.1_Missense_Mutation_p.E526Q|CEP170B_ENST00000453495.1_Missense_Mutation_p.E597Q|CEP170B_ENST00000556508.1_Missense_Mutation_p.E526Q	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	596						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TGGGGTGTTGGAGTCCCCTGA	0.632																																																	0													34	38	37					14																	105351721		1998	4167	6165	SO:0001583	missense	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1786G>C	14.37:g.105351721G>C	ENSP00000404151:p.Glu596Gln		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E597Q	ENST00000414716.3	37	c.1789	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508990	0.64410	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.72	3.72	0.42706	.	0.216858	0.37530	N	0.002056	T	0.44582	0.1300	L	0.54323	1.7	0.43014	D	0.994551	D;D;D	0.76494	0.999;0.993;0.996	D;P;P	0.70487	0.969;0.777;0.9	T	0.48736	-0.9009	10	0.72032	D	0.01	-28.3944	14.4142	0.67137	0.0:0.0:1.0:0.0	.	596;596;526	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	Q	526;596;597;526	ENSP00000451249:E526Q;ENSP00000404151:E596Q;ENSP00000407238:E597Q;ENSP00000415006:E526Q	ENSP00000404151:E596Q	E	+	1	0	KIAA0284	104422766	1.000000	0.71417	0.769000	0.31535	0.948000	0.59901	6.481000	0.73608	1.788000	0.52465	0.313000	0.20887	GAG	KIAA0284	-	NULL		0.632	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0284	HGNC	protein_coding	OTTHUMT00000410289.2	G	NM_001112726		105351721	1	no_errors	ENST00000453495	ensembl	human	known	70_37	missense	SNP	0.975	C	C	105351721	G	C	105351721	3	2	193	1	0	0	0	0	1	0	0	0	8186	1175	41	1	1820	1	KIAA0284	14	105351721	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	33175369	105351721	1997819	287	36947										
RYR3	6263	genome.wustl.edu	37	chr15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttcttacgtgttagaaattgCgggtgaagaggaagaagacg	14	4	1	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483																																																	0													144	143	143					15																	34130561		1889	4100	5989	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12380C>T	15.37:g.34130561C>T	ENSP00000373884:p.Ala4127Val		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A4127V	ENST00000389232.4	37	c.12380	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.097237	0.01843	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96619	-4.07	5.8	2.07	0.26955	.	0.644280	0.15045	N	0.283606	D	0.91526	0.7324	L	0.41492	1.28	0.09310	N	1	B;B	0.15141	0.001;0.012	B;B	0.10450	0.002;0.005	T	0.83074	-0.0141	10	0.45353	T	0.12	.	3.025	0.06087	0.3072:0.4573:0.0931:0.1424	.	4122;4127	Q15413-2;Q15413	.;RYR3_HUMAN	V	4127;4123	ENSP00000373884:A4127V	ENSP00000354735:A4123V	A	+	2	0	RYR3	31917853	1.000000	0.71417	0.071000	0.20095	0.022000	0.10575	1.429000	0.34903	0.470000	0.27294	-1.461000	0.01025	GCG	RYR3	-	superfamily_ARM-type_fold		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34130561	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	0.001	T	T	34130561	C	T	34130561	3	4	193	1	0	0	0	0	1	0	0	0	13800	768	27	2	12734	2	RYR3	15	34130561	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		34130561	68400831	288	36948										
SPINT1	6692	genome.wustl.edu	37	chr15	41149135	41149135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tctccactaccgaggacacgGagcacctggtctataaccac	8	15	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:41149135G>A	ENST00000344051.4	+	11	1786	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	SPINT1_ENST00000431806.1_Missense_Mutation_p.E502K|SPINT1_ENST00000562057.1_Missense_Mutation_p.E502K			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	518					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGAGGACACGGAGCACCTGGT	0.622																																																	0													176	178	177					15																	41149135		2203	4300	6503	SO:0001583	missense	6692				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1552G>A	15.37:g.41149135G>A	ENSP00000342098:p.Glu518Lys		Q7Z7D2	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E518K	ENST00000344051.4	37	c.1552	CCDS10067.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.513605	0.96402	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.96459	-4.01;-4.02	5.49	5.49	0.81192	.	0.147490	0.64402	D	0.000012	D	0.97977	0.9334	M	0.76574	2.34	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.949;0.994	D	0.98645	1.0677	10	0.72032	D	0.01	-28.2428	18.9505	0.92640	0.0:0.0:1.0:0.0	.	502;502;518	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	K	518;485;502	ENSP00000342098:E518K;ENSP00000409935:E502K	ENSP00000342098:E518K	E	+	1	0	SPINT1	38936427	1.000000	0.71417	0.975000	0.42487	0.768000	0.43524	8.242000	0.89818	2.588000	0.87417	0.462000	0.41574	GAG	SPINT1	-	NULL		0.622	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPINT1	HGNC	protein_coding	OTTHUMT00000252359.2	G	NM_003710		41149135	1	no_errors	ENST00000344051	ensembl	human	known	70_37	missense	SNP	1.000	A	A	41149135	G	A	41149135	3	1	193	1	0	0	0	0	1	0	0	0	15098	1175	41	1	1590	1	SPINT1	15	41149135	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	7018574	41149135	61382257	289	36949										
TP53BP1	7158	genome.wustl.edu	37	chr15	43783907	43783907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggtaactgctcaatgacctGactgatggaaccacatgtgt	10	9	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:43783907G>C	ENST00000263801.3	-	4	568	c.316C>G	c.(316-318)Cag>Gag	p.Q106E	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q111E|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q111E|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q111E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	106					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCAATGACCTGACTGATGGAA	0.363								Other conserved DNA damage response genes																																									0													185	188	187					15																	43783907		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.316C>G	15.37:g.43783907G>C	ENSP00000263801:p.Gln106Glu		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q111E	ENST00000263801.3	37	c.331	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850132	0.71719	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.12361	3.56;3.56;3.54;3.56;2.69	4.64	4.64	0.57946	.	0.205916	0.32548	N	0.005949	T	0.32071	0.0817	M	0.72894	2.215	0.34183	D	0.67111	D;D;P;P	0.59767	0.986;0.965;0.917;0.917	D;P;P;P	0.69654	0.965;0.777;0.878;0.878	T	0.35500	-0.9786	10	0.23891	T	0.37	-8.0136	12.8522	0.57864	0.0:0.0:1.0:0.0	.	111;106;111;111	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	E	106;111;111;111;111	ENSP00000263801:Q106E;ENSP00000371475:Q111E;ENSP00000371470:Q111E;ENSP00000393497:Q111E;ENSP00000388028:Q111E	ENSP00000263801:Q106E	Q	-	1	0	TP53BP1	41571199	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.491000	0.53252	2.417000	0.82017	0.585000	0.79938	CAG	TP53BP1	-	NULL		0.363	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	G			43783907	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	1.000	C	C	43783907	G	C	43783907	3	2	193	1	0	0	0	0	1	0	0	0	16414	1299	45	1	5702	1	TP53BP1	15	43783907	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2634772	43783907	58747485	290	36950										
SLC12A1	6557	genome.wustl.edu	37	chr15	48539623	48539623	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cccctgagaggatatattctCacttttcttatagccatggc	7	11	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:48539623C>T	ENST00000558405.1	+	12	1664	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	SLC12A1_ENST00000380993.3_Silent_p.L550L|SLC12A1_ENST00000396577.3_Silent_p.L550L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	550					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GATATATTCTCACTTTTCTTA	0.353																																																	0													50	51	51					15																	48539623		2198	4297	6495	SO:0001819	synonymous_variant	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1650C>T	15.37:g.48539623C>T			A8JYA2|E9PDW4	Silent	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L550	ENST00000558405.1	37	c.1650	CCDS10129.2	15																																																																																			SLC12A1	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.353	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	C			48539623	1	no_errors	ENST00000380993	ensembl	human	known	70_37	silent	SNP	1.000	T	T	48539623	C	T	48539623	2	4	193	1	0	0	0	0	0	0	0	1	14412	813	29	1		1	SLC12A1	15	48539623	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4755716	48539623	53991769	291	36951										
MYO5A	4644	genome.wustl.edu	37	chr15	52645825	52645825	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gagtgactcatattccagttCtgcacctctaatttgtggtc	8	10	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:52645825C>T	ENST00000399231.3	-	27	3841	c.3598G>A	c.(3598-3600)Gaa>Aaa	p.E1200K	MYO5A_ENST00000358212.6_Missense_Mutation_p.E1200K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1200K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E1200K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E1200K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1200					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TATTCCAGTTCTGCACCTCTA	0.353																																																	0													113	108	110					15																	52645825		1812	4079	5891	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3598G>A	15.37:g.52645825C>T	ENSP00000382177:p.Glu1200Lys		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1200K	ENST00000399231.3	37	c.3598	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.620789	0.96660	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.92	5.92	0.95590	.	0.095252	0.64402	D	0.000001	T	0.41003	0.1140	L	0.40543	1.245	0.80722	D	1	B;D	0.71674	0.129;0.998	B;D	0.80764	0.046;0.994	T	0.02477	-1.1153	10	0.45353	T	0.12	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	1200;1200	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	K	1200;734;1200;1200;1200;830;1200	ENSP00000382177:E1200K;ENSP00000382179:E1200K;ENSP00000348693:E1200K;ENSP00000350945:E1200K;ENSP00000451109:E1200K	ENSP00000348693:E1200K	E	-	1	0	MYO5A	50433117	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.944000	0.75940	2.809000	0.96659	0.655000	0.94253	GAA	MYO5A	-	NULL		0.353	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	C	NM_000259		52645825	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	1.000	T	T	52645825	C	T	52645825	3	4	193	1	0	0	0	0	1	0	0	0	10101	922	32	1	2029	1	MYO5A	15	52645825	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4106202	52645825	49885567	292	36952										
UNC13C	440279	genome.wustl.edu	37	chr15	54307226	54307226	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cagtgatcttcaagatgactCagagagctacgacttaactc	8	10	3	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:54307226C>T	ENST00000260323.11	+	1	2126	c.2126C>T	c.(2125-2127)tCa>tTa	p.S709L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S709L|UNC13C_ENST00000545554.1_Missense_Mutation_p.S709L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	709					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAGATGACTCAGAGAGCTAC	0.403																																																	0													38	37	37					15																	54307226		1893	4123	6016	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2126C>T	15.37:g.54307226C>T	ENSP00000260323:p.Ser709Leu		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S709L	ENST00000260323.11	37	c.2126	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243159	0.39697	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79141	-1.24;-1.24;-1.24	5.79	5.79	0.91817	.	.	.	.	.	T	0.67859	0.2938	N	0.14661	0.345	0.28537	N	0.912305	B	0.22003	0.063	B	0.19666	0.026	T	0.63594	-0.6602	9	0.66056	D	0.02	.	18.6037	0.91259	0.0:1.0:0.0:0.0	.	709	Q8NB66	UN13C_HUMAN	L	709	ENSP00000260323:S709L;ENSP00000438156:S709L;ENSP00000442569:S709L	ENSP00000260323:S709L	S	+	2	0	UNC13C	52094518	0.996000	0.38824	0.996000	0.52242	0.991000	0.79684	3.189000	0.50965	2.737000	0.93849	0.650000	0.86243	TCA	UNC13C	-	NULL		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	C	NM_173166		54307226	1	no_errors	ENST00000260323	ensembl	human	known	70_37	missense	SNP	0.996	T	T	54307226	C	T	54307226	3	4	193	1	0	0	0	0	1	0	0	0	17017	838	29	1	2128	1	UNC13C	15	54307226	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1661401	54307226	48224166	293	36953										
UNC13C	440279	genome.wustl.edu	37	chr15	54307319	54307319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgggttggccaatatgattCttatcagggagctaattcta	11	6	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:54307319C>T	ENST00000260323.11	+	1	2219	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	UNC13C_ENST00000537900.1_Missense_Mutation_p.S740F|UNC13C_ENST00000545554.1_Missense_Mutation_p.S740F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	740					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAATATGATTCTTATCAGGGA	0.413																																																	0													35	33	34					15																	54307319		1883	4110	5993	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2219C>T	15.37:g.54307319C>T	ENSP00000260323:p.Ser740Phe		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S740F	ENST00000260323.11	37	c.2219	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196282	0.38806	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79845	-1.31;-1.31;-1.31	5.42	4.5	0.54988	.	.	.	.	.	T	0.65512	0.2698	N	0.19112	0.55	0.26017	N	0.981916	B	0.33379	0.41	B	0.26517	0.07	T	0.59621	-0.7420	9	0.54805	T	0.06	.	9.2364	0.37468	0.1437:0.7769:0.0:0.0794	.	740	Q8NB66	UN13C_HUMAN	F	740	ENSP00000260323:S740F;ENSP00000438156:S740F;ENSP00000442569:S740F	ENSP00000260323:S740F	S	+	2	0	UNC13C	52094611	1.000000	0.71417	0.972000	0.41901	0.985000	0.73830	3.010000	0.49559	2.531000	0.85337	0.650000	0.86243	TCT	UNC13C	-	NULL		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	C	NM_173166		54307319	1	no_errors	ENST00000260323	ensembl	human	known	70_37	missense	SNP	0.985	T	T	54307319	C	T	54307319	3	4	193	1	0	0	0	0	1	0	0	0	17017	913	32	1	2221	1	UNC13C	15	54307319	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	93	54307319	48224073	294	36954										
NEDD4	4734	genome.wustl.edu	37	chr15	56152670	56152670	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gagtctggcattcaattcttCtgcaagatgagttggaacat	10	7	4	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:56152670C>T	ENST00000508342.1	-	7	2451	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	NEDD4_ENST00000506154.1_Missense_Mutation_p.E702K|NEDD4_ENST00000338963.2_Missense_Mutation_p.E646K|NEDD4_ENST00000435532.3_Missense_Mutation_p.E299K	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	718	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTCAATTCTTCTGCAAGATGA	0.453																																																	0													117	105	109					15																	56152670		2193	4292	6485	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2152G>A	15.37:g.56152670C>T	ENSP00000424827:p.Glu718Lys		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.E718K	ENST00000508342.1	37	c.2152		15	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578770	0.65878	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T;T;T;T	0.21543	2.04;2.13;2.03;2.0	5.56	4.45	0.53987	.	0.528419	0.21157	N	0.079237	T	0.20047	0.0482	L	0.32530	0.975	0.31326	N	0.685398	B;P;P;B	0.39022	0.228;0.624;0.655;0.234	B;B;B;B	0.40825	0.083;0.341;0.146;0.272	T	0.08166	-1.0735	10	0.49607	T	0.09	.	14.3955	0.67007	0.0:0.9164:0.0:0.0836	.	702;299;718;646	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	K	718;299;646;702	ENSP00000424827:E718K;ENSP00000410613:E299K;ENSP00000345530:E646K;ENSP00000422705:E702K	ENSP00000345530:E646K	E	-	1	0	NEDD4	53939962	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	4.062000	0.57492	2.596000	0.87737	0.585000	0.79938	GAA	NEDD4	-	NULL		0.453	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	C	NM_198400		56152670	-1	no_errors	ENST00000508342	ensembl	human	known	70_37	missense	SNP	1.000	T	T	56152670	C	T	56152670	3	4	193	1	0	0	0	0	1	0	0	0	10334	922	32	1	1883	1	NEDD4	15	56152670	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1845351	56152670	46378722	295	36955										
RNF111	54778	genome.wustl.edu	37	chr15	59344533	59344533	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atgaagatgttgtggtgataGaagcttcctccactccccag	10	10	0	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:59344533G>C	ENST00000557998.1	+	3	1197	c.910G>C	c.(910-912)Gaa>Caa	p.E304Q	RNF111_ENST00000559209.1_Missense_Mutation_p.E304Q|RNF111_ENST00000434298.1_Missense_Mutation_p.E304Q|RNF111_ENST00000561186.1_Missense_Mutation_p.E304Q|RNF111_ENST00000348370.4_Missense_Mutation_p.E304Q	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	304	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TGTGGTGATAGAAGCTTCCTC	0.383																																					NSCLC(72;983 1365 10746 34387 47081)												0													150	142	145					15																	59344533		2192	4291	6483	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.910G>C	15.37:g.59344533G>C	ENSP00000452732:p.Glu304Gln		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E304Q	ENST00000557998.1	37	c.910	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095202	0.56075	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.22134	1.97;1.97	5.6	4.67	0.58626	.	0.051907	0.85682	D	0.000000	T	0.22936	0.0554	L	0.47716	1.5	0.58432	D	0.999997	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.12837	0.008;0.003;0.008	T	0.03017	-1.1082	10	0.87932	D	0	-2.7418	15.8612	0.79021	0.0:0.0:0.8632:0.1368	.	304;304;304	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	Q	304	ENSP00000288199:E304Q;ENSP00000393641:E304Q	ENSP00000288199:E304Q	E	+	1	0	RNF111	57131825	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.829000	0.92055	1.334000	0.45468	-0.241000	0.12123	GAA	RNF111	-	NULL		0.383	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	G	NM_017610		59344533	1	no_errors	ENST00000434298	ensembl	human	known	70_37	missense	SNP	1.000	C	C	59344533	G	C	59344533	3	2	193	1	0	0	0	0	1	0	0	0	13455	943	33	1	916	1	RNF111	15	59344533	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3191863	59344533	43186859	296	36956										
WHAMM	123720	genome.wustl.edu	37	chr15	83499688	83499688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcccccaccccctcctctccGtgctctgtcctcatcctctc	4	24	4	0	rs201723993		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:83499688G>A	ENST00000286760.4	+	9	2078	c.1979G>A	c.(1978-1980)cGt>cAt	p.R660H		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	660	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CCTCCTCTCCGTGCTCTGTCC	0.587																																																	0								G	HIS/ARG	2,3946		0,2,1972	26	28	27		1979	3.7	0	15		27	8,8280		0,8,4136	yes	missense	WHAMM	NM_001080435.1	29	0,10,6108	AA,AG,GG		0.0965,0.0507,0.0817	benign	660/810	83499688	10,12226	1974	4144	6118	SO:0001583	missense	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1979G>A	15.37:g.83499688G>A	ENSP00000286760:p.Arg660His		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.R660H	ENST00000286760.4	37	c.1979	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206364	0.39003	5.07E-4	9.65E-4	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.08282	3.11	4.58	3.67	0.42095	.	.	.	.	.	T	0.03871	0.0109	N	0.02539	-0.55	0.09310	N	1	B	0.24368	0.102	B	0.09377	0.004	T	0.39375	-0.9617	9	0.44086	T	0.13	.	12.0197	0.53336	0.0:0.8249:0.1751:0.0	.	660	Q8TF30	WHAMM_HUMAN	H	660	ENSP00000286760:R660H	ENSP00000234505:R660H	R	+	2	0	WHAMM	81296742	0.227000	0.23707	0.010000	0.14722	0.363000	0.29612	0.805000	0.27112	1.154000	0.42482	-1.088000	0.02184	CGT	WHAMM	-	NULL		0.587	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	G			83499688	1	no_errors	ENST00000286760	ensembl	human	known	70_37	missense	SNP	0.038	A	A	83499688	G	A	83499688	3	1	193	1	0	0	0	0	1	0	0	0	17392	1145	40	2	2013	2	WHAMM	15	83499688	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	24155155	83499688	19031704	297	36957										
ALPK3	57538	genome.wustl.edu	37	chr15	85383341	85383341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tctggagaagtgaccaccaaCggggaggctgcccccgagaa	14	12	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:85383341C>T	ENST00000258888.5	+	5	1604	c.1437C>T	c.(1435-1437)aaC>aaT	p.N479N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	479					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGACCACCAACGGGGAGGCTG	0.597																																																	0													63	59	60					15																	85383341		2203	4299	6502	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1437C>T	15.37:g.85383341C>T			Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.N479	ENST00000258888.5	37	c.1437	CCDS10333.1	15																																																																																			ALPK3	-	NULL		0.597	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	C	NM_020778		85383341	1	no_errors	ENST00000258888	ensembl	human	known	70_37	silent	SNP	0.828	T	T	85383341	C	T	85383341	2	4	193	1	0	0	0	0	0	0	0	1	546	535	19	2		2	ALPK3	15	85383341	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1883653	85383341	17148051	298	36958										
UNC45A	55898	genome.wustl.edu	37	chr15	91479682	91479682	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggaacatcgggggccagattCaggagaaggtatgtgagtga	17	5	1	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:91479682C>T	ENST00000418476.2	+	4	458	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	UNC45A_ENST00000394275.2_Nonsense_Mutation_p.Q125*|UNC45A_ENST00000553671.2_3'UTR|AC068831.3_ENST00000448987.1_RNA|AC068831.3_ENST00000438890.1_RNA	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	140					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGGCCAGATTCAGGAGAAGGT	0.577																																																	0													46	47	47					15																	91479682		2198	4298	6496	SO:0001587	stop_gained	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.418C>T	15.37:g.91479682C>T	ENSP00000407487:p.Gln140*		A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Nonsense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q140*	ENST00000418476.2	37	c.418	CCDS10367.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773630	0.90108	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	.	.	.	5.3	5.3	0.74995	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-32.0371	19.0103	0.92870	0.0:1.0:0.0:0.0	.	.	.	.	X	125;140	.	ENSP00000377816:Q125X	Q	+	1	0	UNC45A	89280686	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.499000	0.84300	0.485000	0.47835	CAG	UNC45A	-	NULL		0.577	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	C	NM_018671		91479682	1	no_errors	ENST00000418476	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	91479682	C	T	91479682	4	4	193	1	0	0	0	0	0	1	0	0	17019	827	29	1	432	1	UNC45A	15	91479682	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	6096341	91479682	11051710	299	36959										
VPS33B	26276	genome.wustl.edu	37	chr15	91549239	91549239	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aagttccgggccttctggctCaagaagccaaagacattgga	11	10	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:91549239C>T	ENST00000333371.3	-	12	1256	c.903G>A	c.(901-903)ttG>ttA	p.L301L	VPS33B_ENST00000535843.1_Silent_p.L210L|VPS33B_ENST00000535906.1_Silent_p.L274L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	301					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCTTCTGGCTCAAGAAGCCAA	0.507																																																	0													53	51	51					15																	91549239		2198	4298	6496	SO:0001819	synonymous_variant	26276			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.903G>A	15.37:g.91549239C>T			B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L301	ENST00000333371.3	37	c.903	CCDS10369.1	15																																																																																			VPS33B	-	pfam_Sec1-like,superfamily_Sec1-like		0.507	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	HGNC	protein_coding	OTTHUMT00000313496.1	C	NM_018668		91549239	-1	no_errors	ENST00000333371	ensembl	human	known	70_37	silent	SNP	1.000	T	T	91549239	C	T	91549239	2	4	193	1	0	0	0	0	0	0	0	1	17233	825	29	1		1	VPS33B	15	91549239	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	69557	91549239	10982153	300	36960										
SNRPA1	6627	genome.wustl.edu	37	chr15	101832243	101832243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gatcaagtccctcacctataCggctaaaataaaaatagagt	6	9	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:101832243C>T	ENST00000254193.6	-	3	305	c.233G>A	c.(232-234)cGt>cAt	p.R78H	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	78					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCACCTATACGGCTAAAATA	0.388																																																	0													114	122	119					15																	101832243		2203	4300	6503	SO:0001583	missense	6627			AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.233G>A	15.37:g.101832243C>T	ENSP00000254193:p.Arg78His		B2R5I6|Q8TBD2	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.R78H	ENST00000254193.6	37	c.233	CCDS10391.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259314	0.80246	.	.	ENSG00000131876	ENST00000254193	T	0.62639	0.01	5.23	5.23	0.72850	.	0.055575	0.64402	D	0.000001	T	0.57242	0.2040	M	0.62266	1.93	0.80722	D	1	P	0.47191	0.891	B	0.35182	0.197	T	0.61845	-0.6979	10	0.33141	T	0.24	-10.6887	17.7832	0.88530	0.0:1.0:0.0:0.0	.	78	P09661	RU2A_HUMAN	H	78	ENSP00000254193:R78H	ENSP00000254193:R78H	R	-	2	0	SNRPA1	99649766	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.039000	0.76544	2.424000	0.82194	0.655000	0.94253	CGT	SNRPA1	-	NULL		0.388	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPA1	HGNC	protein_coding	OTTHUMT00000313621.2	C	NM_003090		101832243	-1	no_errors	ENST00000254193	ensembl	human	known	70_37	missense	SNP	0.999	T	T	101832243	C	T	101832243	3	4	193	1	0	0	0	0	1	0	0	0	14890	536	19	2	562	2	SNRPA1	15	101832243	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	10283004	101832243	699149	301	36961										
CACNA1H	8912	genome.wustl.edu	37	chr16	1258192	1258192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtggcagcagcagctccgggGacccgccactgggagaccag	16	14	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:1258192G>T	ENST00000348261.5	+	16	3582	c.3334G>T	c.(3334-3336)Gac>Tac	p.D1112Y	CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1112Y|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1112Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1112					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CAGCTCCGGGGACCCGCCACT	0.662																																																	0													4	6	5					16																	1258192		1790	3894	5684	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3334G>T	16.37:g.1258192G>T	ENSP00000334198:p.Asp1112Tyr		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.D1112Y	ENST00000348261.5	37	c.3334	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494087	0.26774	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.84944	-1.92;-1.92	4.05	4.05	0.47172	.	0.806941	0.11149	N	0.594299	D	0.84257	0.5432	M	0.61703	1.905	0.43084	D	0.994742	B;B	0.20459	0.045;0.008	B;B	0.18871	0.023;0.003	T	0.80236	-0.1466	10	0.46703	T	0.11	.	15.3821	0.74664	0.0:0.0:1.0:0.0	.	1112;1112	O95180-2;O95180	.;CAC1H_HUMAN	Y	1112	ENSP00000334198:D1112Y;ENSP00000351401:D1112Y	ENSP00000334198:D1112Y	D	+	1	0	CACNA1H	1198193	1.000000	0.71417	0.243000	0.24186	0.001000	0.01503	8.584000	0.90798	2.100000	0.63781	0.655000	0.94253	GAC	CACNA1H	-	NULL		0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	G	NM_001005407		1258192	1	no_errors	ENST00000348261	ensembl	human	known	70_37	missense	SNP	0.958	T	T	1258192	G	T	1258192	3	4	193	1	0	0	0	0	1	0	0	0	2550	1174	41	3	3392	3	CACNA1H	16	1258192	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		1258192	89096561	302	36962										
PTX4	390667	genome.wustl.edu	37	chr16	1536174	1536174	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcttgttcctggcccagcacGagggaccctccgggggggat	15	13	1	0	rs372576163		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:1536174G>A	ENST00000447419.2	-	3	1228	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	PTX4_ENST00000293922.1_Silent_p.L396L|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	401	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCCCAGCACGAGGGACCCTC	0.682													G|||	1	0.000199681	0	0	5008	,	,		15302	0		0	False		,,,				2504	0.001																0								G		0,4398		0,0,2199	37	37	37		1188	-10.9	0.2	16		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTX4	NM_001013658.1		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		396/474	1536174	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	390667				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1203C>T	16.37:g.1536174G>A				Silent	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.L401	ENST00000447419.2	37	c.1203		16																																																																																			PTX4	-	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.682	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	G	NM_001013658		1536174	-1	no_errors	ENST00000447419	ensembl	human	known	70_37	silent	SNP	0.657	A	A	1536174	G	A	1536174	2	1	193	1	0	0	0	0	0	0	0	1	12853	1045	37	1		1	PTX4	16	1536174	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	277982	1536174	88818579	303	36963										
GRIN2A	2903	genome.wustl.edu	37	chr16	9916129	9916129	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgccatccttaccccgttttCaggctgaccaaggcgtcctc	8	16	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:9916129C>T	ENST00000396573.2	-	11	2469	c.2160G>A	c.(2158-2160)ctG>ctA	p.L720L	GRIN2A_ENST00000535259.1_Silent_p.L563L|GRIN2A_ENST00000562109.1_Silent_p.L720L|GRIN2A_ENST00000330684.3_Silent_p.L720L|GRIN2A_ENST00000404927.2_Silent_p.L720L|GRIN2A_ENST00000396575.2_Silent_p.L720L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	720					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCCCGTTTTCAGGCTGACCA	0.468																																																	0													156	139	145					16																	9916129		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2160G>A	16.37:g.9916129C>T			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L720	ENST00000396573.2	37	c.2160	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	C			9916129	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	silent	SNP	1.000	T	T	9916129	C	T	9916129	2	4	193	1	0	0	0	0	0	0	0	1	6799	813	29	1		1	GRIN2A	16	9916129	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	8379955	9916129	80438624	304	36964										
GRIN2A	2903	genome.wustl.edu	37	chr16	9916191	9916191	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggtcatgtactgatgcatgtAgggatagttattccgaatgt	12	5	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:9916191A>T	ENST00000396573.2	-	11	2407	c.2098T>A	c.(2098-2100)Tac>Aac	p.Y700N	GRIN2A_ENST00000535259.1_Missense_Mutation_p.Y543N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Y700N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Y700N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Y700N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Y700N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	700					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGATGCATGTAGGGATAGTTA	0.463																																																	0													172	148	156					16																	9916191		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2098T>A	16.37:g.9916191A>T	ENSP00000379818:p.Tyr700Asn		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y700N	ENST00000396573.2	37	c.2098	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070270	0.55539	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.153166	0.56097	D	0.000037	T	0.10035	0.0246	N	0.02011	-0.69	0.42160	D	0.991599	B;B;B	0.29162	0.02;0.025;0.235	B;B;B	0.30105	0.008;0.014;0.111	T	0.32771	-0.9894	9	.	.	.	.	10.8146	0.46569	0.7345:0.2655:0.0:0.0	.	543;700;700	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	700;700;543;700;700	ENSP00000379818:Y700N;ENSP00000385872:Y700N;ENSP00000441572:Y543N;ENSP00000332549:Y700N;ENSP00000379820:Y700N	.	Y	-	1	0	GRIN2A	9823692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.298000	0.59067	2.146000	0.66826	0.533000	0.62120	TAC	GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	A			9916191	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	missense	SNP	1.000	T	T	9916191	A	T	9916191	3	4	193	1	0	0	0	0	1	0	0	0	6799	420	15	5	2312	5	GRIN2A	16	9916191	Missense_Mutation	SNP	A	TCGA-UC-A7PF-01A-11D-A351-09	62	9916191	80438562	305	36965										
SCNN1B	6338	genome.wustl.edu	37	chr16	23366649	23366649	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aacaggacccagtgtaccttCcggaacttcaccagtgctac	8	14	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:23366649C>T	ENST00000343070.2	+	4	791	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SCNN1B_ENST00000568923.1_Intron|SCNN1B_ENST00000307331.5_Silent_p.F250F|SCNN1B_ENST00000568085.1_Silent_p.F205F	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	205					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGTGTACCTTCCGGAACTTCA	0.577																																																	0													141	103	116					16																	23366649		2197	4300	6497	SO:0001819	synonymous_variant	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.615C>T	16.37:g.23366649C>T			C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.F250	ENST00000343070.2	37	c.750	CCDS10609.1	16																																																																																			SCNN1B	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.577	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1B	HGNC	protein_coding	OTTHUMT00000254495.2	C			23366649	1	no_errors	ENST00000307331	ensembl	human	known	70_37	silent	SNP	1.000	T	T	23366649	C	T	23366649	2	4	193	1	0	0	0	0	0	0	0	1	13958	854	30	1		1	SCNN1B	16	23366649	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	13450458	23366649	66988104	306	36966										
RABEP2	79874	genome.wustl.edu	37	chr16	28935744	28935744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctttcaggatggcctgcagcGaggccacctcctcttggcac	11	15	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:28935744G>A	ENST00000358201.4	-	2	842	c.254C>T	c.(253-255)tCg>tTg	p.S85L	RABEP2_ENST00000357573.6_Missense_Mutation_p.S85L|RABEP2_ENST00000544477.1_Intron|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	85					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GGCCTGCAGCGAGGCCACCTC	0.612																																					Pancreas(66;639 1284 10093 31061 49099)												0													48	51	50					16																	28935744		2117	4241	6358	SO:0001583	missense	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.254C>T	16.37:g.28935744G>A	ENSP00000350934:p.Ser85Leu			Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.S85L	ENST00000358201.4	37	c.254	CCDS42140.1	16	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089827	0.76756	.	.	ENSG00000177548	ENST00000358201;ENST00000357573	T;T	0.63913	-0.03;-0.07	4.29	4.29	0.51040	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.99;0.998;0.994	T	0.79371	-0.1831	10	0.87932	D	0	-9.3564	15.91	0.79467	0.0:0.0:1.0:0.0	.	85;85;85	Q9H5N1-2;Q49AT6;Q9H5N1	.;.;RABE2_HUMAN	L	85	ENSP00000350934:S85L;ENSP00000350186:S85L	ENSP00000350186:S85L	S	-	2	0	RABEP2	28843245	1.000000	0.71417	0.951000	0.38953	0.953000	0.61014	8.906000	0.92626	2.106000	0.64143	0.555000	0.69702	TCG	RABEP2	-	pfam_Rabaptin_coiled-coil		0.612	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RABEP2	HGNC	protein_coding	OTTHUMT00000432691.1	G	NM_024816		28935744	-1	no_errors	ENST00000358201	ensembl	human	known	70_37	missense	SNP	0.994	A	A	28935744	G	A	28935744	3	1	193	1	0	0	0	0	1	0	0	0	12992	1059	37	1	1503	1	RABEP2	16	28935744	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	5569095	28935744	61419009	307	36967										
TGFB1I1	7041	genome.wustl.edu	37	chr16	31486025	31486025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acctcagccgccggggtgttCccacccaggccaaaggcctc	11	18	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:31486025C>T	ENST00000394863.3	+	7	791	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.P204S|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.P204S|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.P204S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	221	Interaction with PTK2B/PYK2.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CCGGGGTGTTCCCACCCAGGC	0.617																																																	0													15	18	17					16																	31486025		2197	4300	6497	SO:0001583	missense	7041			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.661C>T	16.37:g.31486025C>T	ENSP00000378332:p.Pro221Ser		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.P221S	ENST00000394863.3	37	c.661	CCDS42156.1	16	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053416	0.19907	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.56444	0.47;0.46;0.46	5.35	5.35	0.76521	.	0.145895	0.48286	D	0.000197	T	0.42404	0.1201	L	0.47716	1.5	0.40521	D	0.980834	B	0.19200	0.034	B	0.15870	0.014	T	0.28267	-1.0049	10	0.09338	T	0.73	.	12.6312	0.56659	0.0:0.8335:0.1665:0.0	.	221	O43294	TGFI1_HUMAN	S	221;204;204	ENSP00000378332:P221S;ENSP00000355117:P204S;ENSP00000378327:P204S	ENSP00000355117:P204S	P	+	1	0	TGFB1I1	31393526	0.166000	0.22962	0.996000	0.52242	0.894000	0.52154	1.291000	0.33330	2.659000	0.90383	0.655000	0.94253	CCC	TGFB1I1	-	pirsf_Leupaxin		0.617	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	C			31486025	1	no_errors	ENST00000394863	ensembl	human	known	70_37	missense	SNP	0.998	T	T	31486025	C	T	31486025	3	4	193	1	0	0	0	0	1	0	0	0	15847	855	30	1	687	1	TGFB1I1	16	31486025	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2550281	31486025	58868728	308	36968										
ITFG1	81533	genome.wustl.edu	37	chr16	47252809	47252809	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tttcagatacccatttgcatCtacagttgtatacatgatat	5	8	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:47252809C>T	ENST00000320640.6	-	14	1651	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	ITFG1_ENST00000544001.2_Missense_Mutation_p.D362N|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	475						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CCATTTGCATCTACAGTTGTA	0.338																																																	0													106	100	102					16																	47252809		2202	4297	6499	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1423G>A	16.37:g.47252809C>T	ENSP00000319918:p.Asp475Asn		Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	NULL	p.D475N	ENST00000320640.6	37	c.1423	CCDS10728.1	16	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933673	0.34096	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.68025	-0.3;-0.3	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	M	0.69358	2.11	0.80722	D	1	P;D	0.76494	0.865;0.999	B;D	0.69479	0.391;0.964	T	0.81724	-0.0802	10	0.62326	D	0.03	-8.678	17.8988	0.88897	0.0:1.0:0.0:0.0	.	362;475	F5GXC5;Q8TB96	.;TIP_HUMAN	N	475;135;220;362	ENSP00000319918:D475N;ENSP00000441062:D362N	ENSP00000319918:D475N	D	-	1	0	ITFG1	45810310	1.000000	0.71417	0.967000	0.41034	0.772000	0.43724	5.723000	0.68492	2.520000	0.84964	0.455000	0.32223	GAT	ITFG1	-	NULL		0.338	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	C	NM_030790		47252809	-1	no_errors	ENST00000320640	ensembl	human	known	70_37	missense	SNP	0.999	T	T	47252809	C	T	47252809	3	4	193	1	0	0	0	0	1	0	0	0	7889	913	32	1	435	1	ITFG1	16	47252809	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	15766784	47252809	43101944	309	36969										
CDH11	1009	genome.wustl.edu	37	chr16	64981644	64981644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agggagctcagggacccggcCactgagcccctgccttcata	12	15	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:64981644C>T	ENST00000268603.4	-	13	2868	c.2253G>A	c.(2251-2253)gtG>gtA	p.V751V	CDH11_ENST00000566827.1_Silent_p.V625V|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	751					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGGACCCGGCCACTGAGCCCC	0.498			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													78	81	80					16																	64981644		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2253G>A	16.37:g.64981644C>T			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V751	ENST00000268603.4	37	c.2253	CCDS10803.1	16																																																																																			CDH11	-	pfam_Cadherin_cytoplasmic-dom		0.498	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	C	NM_033664		64981644	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	silent	SNP	1.000	T	T	64981644	C	T	64981644	2	4	193	1	0	0	0	0	0	0	0	1	3102	581	21	4		4	CDH11	16	64981644	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	17728835	64981644	25373109	310	36970										
RLTPR	146206	genome.wustl.edu	37	chr16	67688566	67688566	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tactgctgcctgccgaggagGaggcaacgctgggtgccaga	16	11	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:67688566G>C	ENST00000334583.6	+	31	3881	c.3553G>C	c.(3553-3555)Gag>Cag	p.E1185Q	RLTPR_ENST00000545661.1_Missense_Mutation_p.E1149Q	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1185					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGCCGAGGAGGAGGCAACGCT	0.647																																																	0													27	32	30					16																	67688566		2070	4200	6270	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3553G>C	16.37:g.67688566G>C	ENSP00000334958:p.Glu1185Gln		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E1185Q	ENST00000334583.6	37	c.3553	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751656	0.69533	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.17370	2.3;2.28	5.99	5.99	0.97316	.	0.329212	0.26170	N	0.025933	T	0.19565	0.0470	N	0.24115	0.695	0.36259	D	0.8544	D;D	0.57899	0.981;0.981	P;P	0.48368	0.494;0.575	T	0.02539	-1.1144	10	0.54805	T	0.06	-6.1234	18.2659	0.90052	0.0:0.0:1.0:0.0	.	1149;1185	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	Q	1185;282;1149	ENSP00000334958:E1185Q;ENSP00000441481:E1149Q	ENSP00000334958:E1185Q	E	+	1	0	RLTPR	66246067	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	4.664000	0.61540	2.840000	0.97914	0.655000	0.94253	GAG	RLTPR	-	NULL		0.647	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67688566	1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	1.000	C	C	67688566	G	C	67688566	3	2	193	1	0	0	0	0	1	0	0	0	13424	1175	41	1	3675	1	RLTPR	16	67688566	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2706922	67688566	22666187	311	36971										
RLTPR	146206	genome.wustl.edu	37	chr16	67688786	67688786	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gccgaggcagcgggggtgccGaaggcaagaggaagcaagtg	20	8	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:67688786G>T	ENST00000334583.6	+	32	4016	c.3688G>T	c.(3688-3690)Gaa>Taa	p.E1230*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.E1194*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1230					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.E1230K(1)|p.E1270K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGGGGGTGCCGAAGGCAAGAG	0.577																																																	2	Substitution - Missense(2)	cervix(2)											40	48	45					16																	67688786		2176	4269	6445	SO:0001587	stop_gained	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3688G>T	16.37:g.67688786G>T	ENSP00000334958:p.Glu1230*		B8X2Z3	Nonsense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E1230*	ENST00000334583.6	37	c.3688	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.891411	0.98992	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	.	.	.	5.99	5.99	0.97316	.	0.107968	0.41605	D	0.000859	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.0323	18.6582	0.91462	0.0:0.0:1.0:0.0	.	.	.	.	X	1230;327;1194	.	ENSP00000334958:E1230X	E	+	1	0	RLTPR	66246287	1.000000	0.71417	0.944000	0.38274	0.555000	0.35460	5.788000	0.69020	2.840000	0.97914	0.655000	0.94253	GAA	RLTPR	-	NULL		0.577	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67688786	1	no_errors	ENST00000334583	ensembl	human	known	70_37	nonsense	SNP	0.972	T	T	67688786	G	T	67688786	4	4	193	1	0	0	0	0	0	1	0	0	13424	1059	37	3	3814	3	RLTPR	16	67688786	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	220	67688786	22665967	312	36972										
FTSJD1	55783	genome.wustl.edu	37	chr16	71319737	71319737	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	taagaaaagttcttggcaaaGagttcaaaaatgtcagcaag	9	5	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:71319737G>A	ENST00000338099.5	-	3	423	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CMTR2_ENST00000434935.2_Silent_p.L29L			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	29					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TCTTGGCAAAGAGTTCAAAAA	0.413																																																	0													53	52	53					16																	71319737		2198	4300	6498	SO:0001819	synonymous_variant	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.87C>T	16.37:g.71319737G>A			B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom	p.L29	ENST00000338099.5	37	c.87	CCDS10898.1	16																																																																																			FTSJD1	-	NULL		0.413	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD1	HGNC	protein_coding	OTTHUMT00000268984.2	G	NM_018348		71319737	-1	no_errors	ENST00000338099	ensembl	human	known	70_37	silent	SNP	1.000	A	A	71319737	G	A	71319737	2	1	193	1	0	0	0	0	0	0	0	1	6108	929	33	1		1	FTSJD1	16	71319737	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	3630951	71319737	19035016	313	36973										
PMFBP1	83449	genome.wustl.edu	37	chr16	72198702	72198702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcctccatgcagagctgattGtcctgcaaggtcttcctctg	9	13	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:72198702G>A	ENST00000237353.10	-	3	387	c.126C>T	c.(124-126)gaC>gaT	p.D42D	PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000537465.1_Silent_p.D42D|PMFBP1_ENST00000355636.6_5'UTR	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	42						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGAGCTGATTGTCCTGCAAGG	0.537																																																	0													132	110	118					16																	72198702		2198	4300	6498	SO:0001819	synonymous_variant	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.126C>T	16.37:g.72198702G>A			B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	NULL	p.D42	ENST00000237353.10	37	c.126	CCDS32483.1	16																																																																																			PMFBP1	-	NULL		0.537	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	G	NM_031293		72198702	-1	no_errors	ENST00000537465	ensembl	human	known	70_37	silent	SNP	0.982	A	A	72198702	G	A	72198702	2	1	193	1	0	0	0	0	0	0	0	1	12158	1368	48	4		4	PMFBP1	16	72198702	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	878965	72198702	18156051	314	36974										
ZFHX3	463	genome.wustl.edu	37	chr16	72829029	72829029	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggtaggtttgcgagctgttGaggagttgatgtgtggaggg	20	2	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:72829029G>A	ENST00000268489.5	-	9	8224	c.7552C>T	c.(7552-7554)Caa>Taa	p.Q2518*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q1604*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2518					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCGAGCTGTTGAGGAGTTGAT	0.587																																																	0													74	76	76					16																	72829029		2198	4300	6498	SO:0001587	stop_gained	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7552C>T	16.37:g.72829029G>A	ENSP00000268489:p.Gln2518*		D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q2518*	ENST00000268489.5	37	c.7552	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	50	16.649246	0.99868	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.41	5.41	0.78517	.	0.000000	0.45867	D	0.000330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	19.1733	0.93590	0.0:0.0:1.0:0.0	.	.	.	.	X	2518;1604	.	ENSP00000268489:Q2518X	Q	-	1	0	ZFHX3	71386530	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	7.677000	0.84024	2.522000	0.85027	0.561000	0.74099	CAA	ZFHX3	-	NULL		0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72829029	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	72829029	G	A	72829029	4	1	193	1	0	0	0	0	0	1	0	0	17664	1299	45	1	3567	1	ZFHX3	16	72829029	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	630327	72829029	17525724	315	36975										
WWOX	51741	genome.wustl.edu	37	chr16	78466537	78466537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccgtcgcctctccccacgcgGggtcacgtcgaacgcagtgc	12	18	2	0	rs530883793		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:78466537G>A	ENST00000566780.1	+	8	1310	c.944G>A	c.(943-945)gGg>gAg	p.G315E	WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.G315E	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	315	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TCCCCACGCGGGGTCACGTCG	0.537																																																	0													133	136	135					16																	78466537		2072	4210	6282	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.944G>A	16.37:g.78466537G>A	ENSP00000457230:p.Gly315Glu		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH	p.G315E	ENST00000566780.1	37	c.944	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024194	0.75390	.	.	ENSG00000186153	ENST00000408984	D	0.93133	-3.17	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.97060	0.9770	10	0.72032	D	0.01	.	20.3261	0.98701	0.0:0.0:1.0:0.0	.	315	Q9NZC7	WWOX_HUMAN	E	315	ENSP00000386161:G315E	ENSP00000386161:G315E	G	+	2	0	WWOX	77024038	1.000000	0.71417	0.992000	0.48379	0.156000	0.22039	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GGG	WWOX	-	prints_Glc/ribitol_DH		0.537	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	G			78466537	1	no_errors	ENST00000566780	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78466537	G	A	78466537	3	1	193	1	0	0	0	0	1	0	0	0	17445	1232	43	4	1036	4	WWOX	16	78466537	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	5637508	78466537	11888216	316	36976										
ADAD2	161931	genome.wustl.edu	37	chr16	84229448	84229448	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cccacctcggaaggtggcctCccgcacagcccacccatgcg	10	20	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:84229448C>T	ENST00000315906.5	+	7	1132	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Silent_p.L442L	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	360	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AAGGTGGCCTCCCGCACAGCC	0.701																																																	0													15	17	16					16																	84229448		2183	4274	6457	SO:0001819	synonymous_variant	161931			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1080C>T	16.37:g.84229448C>T			B2RCL6|Q8NA94	Silent	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.L442	ENST00000315906.5	37	c.1326	CCDS45536.1	16																																																																																			ADAD2	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.701	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	C	NM_139174		84229448	1	no_errors	ENST00000268624	ensembl	human	known	70_37	silent	SNP	0.000	T	T	84229448	C	T	84229448	2	4	193	1	0	0	0	0	0	0	0	1	232	842	30	1		1	ADAD2	16	84229448	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	5762911	84229448	6125305	317	36977										
KLHL36	79786	genome.wustl.edu	37	chr16	84695457	84695457	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaggcctacagcccgcagtgCaaccagtggacccgcgtggc	14	15	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:84695457C>G	ENST00000564996.1	+	5	1710	c.1569C>G	c.(1567-1569)tgC>tgG	p.C523W	KLHL36_ENST00000258157.5_Missense_Mutation_p.C460W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	523					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GCCCGCAGTGCAACCAGTGGA	0.672																																																	0													46	40	42					16																	84695457		2199	4300	6499	SO:0001583	missense	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1569C>G	16.37:g.84695457C>G	ENSP00000456743:p.Cys523Trp		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C523W	ENST00000564996.1	37	c.1569	CCDS10948.1	16	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680585	0.68042	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.77489	-1.1	5.49	4.34	0.51931	Kelch-type beta propeller (1);	0.048727	0.85682	D	0.000000	D	0.84234	0.5427	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.68483	0.954;0.958	D	0.85375	0.1116	10	0.72032	D	0.01	.	13.1005	0.59218	0.0:0.8678:0.0:0.1322	.	460;523	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	523;460	ENSP00000258157:C460W	ENSP00000258157:C460W	C	+	3	2	KLHL36	83252958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.075000	0.30716	2.583000	0.87209	0.655000	0.94253	TGC	KLHL36	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.672	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	C			84695457	1	no_errors	ENST00000564996	ensembl	human	known	70_37	missense	SNP	1.000	G	G	84695457	C	G	84695457	3	3	193	1	0	0	0	0	1	0	0	0	8409	718	25	4	1583	4	KLHL36	16	84695457	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	466009	84695457	5659296	318	36978										
CENPBD1	92806	genome.wustl.edu	37	chr16	90038052	90038052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcttccagccacaagctcagCagctgctccatgctctccat	6	17	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:90038052C>T	ENST00000314994.3	-	1	890	c.279G>A	c.(277-279)ctG>ctA	p.L93L	AFG3L1P_ENST00000437774.1_RNA|RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	93	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						ACAAGCTCAGCAGCTGCTCCA	0.517																																																	0													26	29	28					16																	90038052		2121	4231	6352	SO:0001819	synonymous_variant	92806			AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.279G>A	16.37:g.90038052C>T				Silent	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.L93	ENST00000314994.3	37	c.279	CCDS45556.1	16																																																																																			CENPBD1	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like		0.517	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPBD1	HGNC	protein_coding	OTTHUMT00000421897.1	C	NM_145039		90038052	-1	no_errors	ENST00000314994	ensembl	human	known	70_37	silent	SNP	0.002	T	T	90038052	C	T	90038052	2	4	193	1	0	0	0	0	0	0	0	1	3233	697	25	4		4	CENPBD1	16	90038052	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	5342595	90038052	316701	319	36979										
OR3A3	8392	genome.wustl.edu	37	chr17	3324577	3324577	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgctgtgctgcaaatccgctCtgctgagggcagaaagaagg	14	9	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:3324577C>G	ENST00000291231.1	+	1	716	c.716C>G	c.(715-717)tCt>tGt	p.S239C		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	239					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CAAATCCGCTCTGCTGAGGGC	0.557																																																	0													118	108	111					17																	3324577		2203	4300	6503	SO:0001583	missense	8392			U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.716C>G	17.37:g.3324577C>G	ENSP00000291231:p.Ser239Cys		Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239C	ENST00000291231.1	37	c.716	CCDS11025.1	17	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333514	0.24167	.	.	ENSG00000159961	ENST00000291231	T	0.00340	8.04	2.52	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	M	0.93328	3.405	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22243	-1.0222	9	0.87932	D	0	.	12.7232	0.57154	0.0:1.0:0.0:0.0	.	239	P47888	OR3A3_HUMAN	C	239	ENSP00000291231:S239C	ENSP00000291231:S239C	S	+	2	0	OR3A3	3271327	0.000000	0.05858	0.010000	0.14722	0.102000	0.19082	0.436000	0.21526	1.692000	0.51112	0.650000	0.86243	TCT	OR3A3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A3	HGNC	protein_coding	OTTHUMT00000207309.1	C			3324577	1	no_errors	ENST00000291231	ensembl	human	known	70_37	missense	SNP	0.099	G	G	3324577	C	G	3324577	3	3	193	1	0	0	0	0	1	0	0	0	11063	913	32	1	718	1	OR3A3	17	3324577	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		3324577	77870633	320	36980										
PITPNM3	83394	genome.wustl.edu	37	chr17	6367192	6367192	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aggtagctcatggcacaggtCtggtcgcccctgaaagaaac	12	11	2	2	rs368515060		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:6367192C>G	ENST00000262483.8	-	17	2253	c.2166G>C	c.(2164-2166)caG>caC	p.Q722H	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.Q686H	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	722					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGGCACAGGTCTGGTCGCCCC	0.582																																																	0								C	HIS/GLN,HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	80	59	66		2058,2166	4.2	1	17		66	0,8600		0,0,4300	no	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	24,24	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	686/939,722/975	6367192	1,13005	2203	4300	6503	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2166G>C	17.37:g.6367192C>G	ENSP00000262483:p.Gln722His		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.Q722H	ENST00000262483.8	37	c.2166	CCDS11076.1	17	.	.	.	.	.	.	.	.	.	.	C	1.720	-0.496951	0.04291	2.27E-4	0.0	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.38887	1.11;1.11	5.13	4.15	0.48705	.	0.057932	0.64402	N	0.000001	T	0.30448	0.0765	N	0.01729	-0.75	0.42382	D	0.992497	B;D	0.89917	0.003;1.0	B;D	0.68192	0.009;0.956	T	0.23476	-1.0187	10	0.02654	T	1	.	13.2645	0.60125	0.0:0.839:0.161:0.0	.	686;722	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	722;686	ENSP00000262483:Q722H;ENSP00000407882:Q686H	ENSP00000262483:Q722H	Q	-	3	2	PITPNM3	6307916	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.922000	0.28734	1.128000	0.42052	0.561000	0.74099	CAG	PITPNM3	-	NULL		0.582	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	C	NM_031220		6367192	-1	no_errors	ENST00000262483	ensembl	human	known	70_37	missense	SNP	1.000	G	G	6367192	C	G	6367192	3	3	193	1	0	0	0	0	1	0	0	0	11976	912	32	1	774	1	PITPNM3	17	6367192	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3042615	6367192	74828018	321	36981										
ACADVL	37	genome.wustl.edu	37	chr17	7128316	7128316	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gggcatggccgccctgcagtCtgacccctggcagcaagagc	14	15	1	2	rs13383		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:7128316C>G	ENST00000356839.5	+	20	2047	c.1868C>G	c.(1867-1869)tCt>tGt	p.S623C	ACADVL_ENST00000543245.2_Missense_Mutation_p.S646C|ACADVL_ENST00000350303.5_Missense_Mutation_p.S601C|MIR324_ENST00000362183.1_RNA	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	623			S -> F (in dbSNP:rs13383).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GCCCTGCAGTCTGACCCCTGG	0.637																																																	0													70	73	72					17																	7128316		2203	4300	6503	SO:0001583	missense	37			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1868C>G	17.37:g.7128316C>G	ENSP00000349297:p.Ser623Cys		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.S623C	ENST00000356839.5	37	c.1868	CCDS11090.1	17	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360652	0.24598	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	T;T	0.80653	-1.4;-1.4	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84515	0.5489	M	0.74389	2.26	0.80722	D	1	B;B;D	0.67145	0.097;0.051;0.996	B;B;P	0.48552	0.021;0.011;0.581	D	0.86497	0.1801	10	0.66056	D	0.02	.	17.4117	0.87487	0.0:1.0:0.0:0.0	.	646;601;623	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	C	646;669;601;623;669	ENSP00000438689:S646C;ENSP00000344152:S601C	ENSP00000325395:S623C	S	+	2	0	ACADVL	7069040	0.939000	0.31865	0.993000	0.49108	0.831000	0.47069	2.064000	0.41432	2.723000	0.93209	0.655000	0.94253	TCT	ACADVL	-	NULL		0.637	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5	C	NM_000018		7128316	1	no_errors	ENST00000356839	ensembl	human	known	70_37	missense	SNP	0.995	G	G	7128316	C	G	7128316	3	3	193	1	0	0	0	0	1	0	0	0	116	913	32	1	1946	1	ACADVL	17	7128316	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	761124	7128316	74066894	322	36982										
CHD3	1107	genome.wustl.edu	37	chr17	7802458	7802458	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcactgacaccattctagctGatgagatggggctaggcaag	13	9	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:7802458G>A	ENST00000330494.7	+	14	2431	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	CHD3_ENST00000358181.4_Missense_Mutation_p.D761N|CHD3_ENST00000380358.4_Missense_Mutation_p.D820N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	761	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATTCTAGCTGATGAGATGGG	0.547																																																	0													138	129	132					17																	7802458		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2281G>A	17.37:g.7802458G>A	ENSP00000332628:p.Asp761Asn		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D761N	ENST00000330494.7	37	c.2281	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912508	0.72983	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.96716	-4.1;-4.1;-4.1	5.47	5.47	0.80525	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.47852	D	0.000207	D	0.99086	0.9686	H	0.98849	4.35	0.80722	D	1	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.85130	0.993;0.996;0.997	D	0.98928	1.0786	10	0.87932	D	0	-22.5927	19.6995	0.96047	0.0:0.0:1.0:0.0	.	761;761;820	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	820;761;761	ENSP00000369716:D820N;ENSP00000350907:D761N;ENSP00000332628:D761N	ENSP00000332628:D761N	D	+	1	0	CHD3	7743183	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.790000	0.99075	2.744000	0.94065	0.561000	0.74099	GAT	CHD3	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7802458	1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	A	A	7802458	G	A	7802458	3	1	193	1	0	0	0	0	1	0	0	0	3331	1290	45	1	2616	1	CHD3	17	7802458	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	674142	7802458	73392752	323	36983										
PER1	5187	genome.wustl.edu	37	chr17	8050872	8050872	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gggctgggggccgggggagtGaacacgtcctcattcagggg	20	9	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:8050872G>A	ENST00000317276.4	-	12	1650	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	PER1_ENST00000354903.5_Silent_p.F455F|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.F451F	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	471					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGGGGGAGTGAACACGTCCT	0.647			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													22	25	24					17																	8050872		2202	4300	6502	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1413C>T	17.37:g.8050872G>A			B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.F471	ENST00000317276.4	37	c.1413	CCDS11131.1	17																																																																																			PER1	-	NULL		0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	G			8050872	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	silent	SNP	1.000	A	A	8050872	G	A	8050872	2	1	193	1	0	0	0	0	0	0	0	1	11753	1281	45	1		1	PER1	17	8050872	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	248414	8050872	73144338	324	36984										
PER1	5187	genome.wustl.edu	37	chr17	8051105	8051105	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccgttgcgggcacagaagcgGataggggagtggtcaaaggg	19	7	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:8051105G>A	ENST00000317276.4	-	11	1512	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	PER1_ENST00000354903.5_Silent_p.I409I|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.I405I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	425	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CACAGAAGCGGATAGGGGAGT	0.622			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													36	37	36					17																	8051105		2202	4300	6502	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1275C>T	17.37:g.8051105G>A			B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.I425	ENST00000317276.4	37	c.1275	CCDS11131.1	17																																																																																			PER1	-	pfam_PAS_fold_3		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	G			8051105	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	silent	SNP	0.892	A	A	8051105	G	A	8051105	2	1	193	1	0	0	0	0	0	0	0	1	11753	1164	41	1		1	PER1	17	8051105	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	233	8051105	73144105	325	36985										
C17orf59	54785	genome.wustl.edu	37	chr17	8093446	8093446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctcgggcccgggccgcccccGagacgactccatactgcagg	13	18	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:8093446G>A	ENST00000389017.4	-	1	118	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	5										large_intestine(2)|lung(3)|urinary_tract(1)	6						GGCCGCCCCCGAGACGACTCC	0.697																																																	0													1	2	2					17																	8093446		419	1095	1514	SO:0001583	missense	54785			BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.13C>T	17.37:g.8093446G>A	ENSP00000373669:p.Arg5Trp		Q53HS4|Q9NXW8	Missense_Mutation	SNP	pfam_DUF2365	p.R5W	ENST00000389017.4	37	c.13	CCDS11133.2	17	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917485	0.73098	.	.	ENSG00000196544	ENST00000389017	.	.	.	5.82	3.83	0.44106	.	0.453863	0.17421	N	0.174834	T	0.30070	0.0753	L	0.29908	0.895	0.21933	N	0.999464	B	0.13145	0.007	B	0.08055	0.003	T	0.25012	-1.0144	9	0.87932	D	0	-4.9802	8.1224	0.30978	0.0853:0.17:0.7447:0.0	.	5	Q96GS4	CQ059_HUMAN	W	5	.	ENSP00000373669:R5W	R	-	1	2	C17orf59	8034171	0.345000	0.24835	0.992000	0.48379	0.959000	0.62525	1.137000	0.31479	0.799000	0.34018	-0.258000	0.10820	CGG	C17orf59	-	NULL		0.697	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf59	HGNC	protein_coding	OTTHUMT00000333072.1	G	NM_017622		8093446	-1	no_errors	ENST00000389017	ensembl	human	known	70_37	missense	SNP	0.969	A	A	8093446	G	A	8093446	3	1	193	1	0	0	0	0	1	0	0	0	1871	1057	37	1	1064	1	C17orf59	17	8093446	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	42341	8093446	73101764	326	36986										
C17orf68	80169	genome.wustl.edu	37	chr17	8137855	8137855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gttggcagctgggcaggtagGaggcctccgggaggggcaga	21	8	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:8137855G>A	ENST00000315684.8	-	10	1743	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	579					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGCAGGTAGGAGGCCTCCGG	0.647																																																	0													23	29	27					17																	8137855		1997	4162	6159	SO:0001583	missense	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1736C>T	17.37:g.8137855G>A	ENSP00000313759:p.Ser579Phe		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.S579F	ENST00000315684.8	37	c.1736	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	g	6.063	0.380016	0.11466	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83837	-1.77;-1.77	5.44	0.87	0.19102	.	1.796040	0.02462	N	0.086697	T	0.73521	0.3597	L	0.31294	0.92	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.56238	-0.8012	10	0.41790	T	0.15	-1.2097	3.5041	0.07684	0.0836:0.1469:0.4663:0.3032	.	579	Q2NKJ3	CTC1_HUMAN	F	579;544	ENSP00000313759:S579F;ENSP00000396018:S544F	ENSP00000313759:S579F	S	-	2	0	CTC1	8078580	0.002000	0.14202	0.003000	0.11579	0.052000	0.14988	0.471000	0.22100	0.255000	0.21593	0.500000	0.49745	TCC	CTC1	-	NULL		0.647	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	G	NM_025099		8137855	-1	no_errors	ENST00000315684	ensembl	human	known	70_37	missense	SNP	0.000	A	A	8137855	G	A	8137855	3	1	193	1	0	0	0	0	1	0	0	0	1880	1174	41	1	1973	1	C17orf68	17	8137855	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	44409	8137855	73057355	327	36987										
MYH8	4626	genome.wustl.edu	37	chr17	10300225	10300225	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttctggagccgctgcttcgtCttctcaagggaagcacattt	10	11	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:10300225C>T	ENST00000403437.2	-	31	4351	c.4257G>A	c.(4255-4257)aaG>aaA	p.K1419K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1419					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTGCTTCGTCTTCTCAAGGG	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													98	91	94					17																	10300225		2203	4300	6503	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4257G>A	17.37:g.10300225C>T			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1419	ENST00000403437.2	37	c.4257	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_tail,superfamily_Prefoldin		0.493	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	C	NM_002472		10300225	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	silent	SNP	1.000	T	T	10300225	C	T	10300225	2	4	193	1	0	0	0	0	0	0	0	1	10064	912	32	1		1	MYH8	17	10300225	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2162370	10300225	70894985	328	36988										
COX10	1352	genome.wustl.edu	37	chr17	14063216	14063216	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttttgaggtgccatttgactCaaacatgaataggacaaaga	9	6	1	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:14063216C>G	ENST00000261643.3	+	5	724	c.647C>G	c.(646-648)tCa>tGa	p.S216*	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Nonsense_Mutation_p.S24*	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	216					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCATTTGACTCAAACATGAAT	0.333																																																	0													85	77	79					17																	14063216		2203	4300	6503	SO:0001587	stop_gained	1352			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.647C>G	17.37:g.14063216C>G	ENSP00000261643:p.Ser216*		B2R6U5|B4DJ50|O15334|Q969F7	Nonsense_Mutation	SNP	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.S216*	ENST00000261643.3	37	c.647	CCDS11166.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.388816	0.97529	.	.	ENSG00000006695	ENST00000261643;ENST00000536205	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.9133	18.7239	0.91705	0.0:1.0:0.0:0.0	.	.	.	.	X	216;24	.	ENSP00000261643:S216X	S	+	2	0	COX10	14003941	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.142000	0.71750	2.687000	0.91594	0.655000	0.94253	TCA	COX10	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase		0.333	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	HGNC	protein_coding	OTTHUMT00000130003.1	C	NM_001303		14063216	1	no_errors	ENST00000261643	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	14063216	C	G	14063216	4	3	193	1	0	0	0	0	0	1	0	0	3767	838	29	1	665	1	COX10	17	14063216	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3762991	14063216	67131994	329	36989										
TRIM16	10626	genome.wustl.edu	37	chr17	15535892	15535892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gattaagtgtacagtggattCcgtgataactttgcggatgc	12	6	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:15535892C>T	ENST00000578237.1	-	9	1801	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.E316K|TRIM16_ENST00000577886.1_Missense_Mutation_p.E100K|TRIM16_ENST00000416464.2_Missense_Mutation_p.E186K|TRIM16_ENST00000336708.7_Missense_Mutation_p.E316K|TRIM16_ENST00000579219.1_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	316					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		ACAGTGGATTCCGTGATAACT	0.458																																																	0													96	87	90					17																	15535892		2203	4298	6501	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.946G>A	17.37:g.15535892C>T	ENSP00000463188:p.Glu316Lys		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.E316K	ENST00000578237.1	37	c.946	CCDS11171.1	17	.	.	.	.	.	.	.	.	.	.	c	9.889	1.203712	0.22121	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.69040	-0.07;-0.37	4.8	3.82	0.43975	.	0.370421	0.28072	N	0.016709	T	0.52141	0.1716	L	0.34521	1.04	0.25469	N	0.987849	B;B;B	0.21905	0.062;0.007;0.034	B;B;B	0.24394	0.053;0.02;0.016	T	0.33624	-0.9861	10	0.23302	T	0.38	.	10.392	0.44179	0.0:0.9036:0.0:0.0964	.	186;316;330	B3KP96;O95361;Q59EB2	.;TRI16_HUMAN;.	K	316;186	ENSP00000338989:E316K;ENSP00000399918:E186K	ENSP00000338989:E316K	E	-	1	0	TRIM16	15476617	0.963000	0.33076	0.991000	0.47740	0.121000	0.20230	2.174000	0.42482	2.371000	0.80710	0.555000	0.69702	GAA	TRIM16	-	NULL		0.458	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	C	NM_006470		15535892	-1	no_errors	ENST00000336708	ensembl	human	known	70_37	missense	SNP	0.991	T	T	15535892	C	T	15535892	3	4	193	1	0	0	0	0	1	0	0	0	16522	864	30	1	760	1	TRIM16	17	15535892	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1472676	15535892	65659318	330	36990										
ALKBH5	54890	genome.wustl.edu	37	chr17	18087692	18087692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gccgccgcagccgcagccgcCgctgccgccgaaccttaccc	11	22	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:18087692C>T	ENST00000399138.4	+	1	140	c.135C>T	c.(133-135)gcC>gcT	p.A45A	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	45	Ala-rich.				cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					ccgcagccgccgctgccgccg	0.692																																					Ovarian(166;154 1953 40235 46283 46309)												0													3	3	3					17																	18087692		1591	3589	5180	SO:0001819	synonymous_variant	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.135C>T	17.37:g.18087692C>T			B4DVJ4|D3DXC6|Q9NXD6	Silent	SNP	NULL	p.A45	ENST00000399138.4	37	c.135	CCDS42272.1	17																																																																																			ALKBH5	-	NULL		0.692	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	C	NM_017758		18087692	1	no_errors	ENST00000399138	ensembl	human	known	70_37	silent	SNP	0.872	T	T	18087692	C	T	18087692	2	4	193	1	0	0	0	0	0	0	0	1	530	639	23	2		2	ALKBH5	17	18087692	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2551800	18087692	63107518	331	36991										
ABHD15	116236	genome.wustl.edu	37	chr17	27889580	27889580	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggttctcaggccaggtctttCaccttgtgtatgatcgcttc	10	11	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:27889580C>G	ENST00000307201.4	-	2	1576	c.1406G>C	c.(1405-1407)tGa>tCa	p.*469S	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	0						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCAGGTCTTTCACCTTGTGTA	0.572																																																	0													79	87	84					17																	27889580		2203	4300	6503	SO:0001578	stop_lost	116236			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1406G>C	17.37:g.27889580C>G			Q96EC5	Nonstop_Mutation	SNP	pirsf_AB-Hydro_YheT	p.*469S	ENST00000307201.4	37	c.1406	CCDS32602.1	17	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105171	0.37145	.	.	ENSG00000168792	ENST00000307201	.	.	.	5.77	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5702	0.56332	0.0:0.9198:0.0:0.0802	.	.	.	.	S	469	.	.	X	-	2	2	ABHD15	24913706	1.000000	0.71417	0.985000	0.45067	0.805000	0.45488	3.562000	0.53777	1.466000	0.48025	0.655000	0.94253	TGA	ABHD15	-	NULL		0.572	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	HGNC	protein_coding	OTTHUMT00000447796.2	C	NM_198147		27889580	-1	no_errors	ENST00000307201	ensembl	human	known	70_37	nonstop	SNP	1.000	G	G	27889580	C	G	27889580	4	3	193	1	0	0	0	0	0	0	0	0	81	837	29	1	4	1	ABHD15	17	27889580	Nonstop_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	9801888	27889580	53305630	332	36992										
TAF15	8148	genome.wustl.edu	37	chr17	34173922	34173922	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	attcctagaaacgactacagAaatgatcagcgcaaccgacc	7	12	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:34173922A>T	ENST00000588240.1	+	16	1867	c.1752A>T	c.(1750-1752)agA>agT	p.R584S	TAF15_ENST00000311979.3_Missense_Mutation_p.R581S|TAF15_ENST00000592237.1_Missense_Mutation_p.E389V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ACGACTACAGAAATGATCAGC	0.413			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																			Dom	yes		17	17q11.1-q11.2	8148	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"		"L, M"	0													140	135	137					17																	34173922		2203	4300	6503	SO:0001583	missense	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1752A>T	17.37:g.34173922A>T	ENSP00000466950:p.Arg584Ser		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.R584S	ENST00000588240.1	37	c.1752	CCDS32623.1	17	.	.	.	.	.	.	.	.	.	.	a	15.89	2.965563	0.53507	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.7	3.61	0.41365	.	.	.	.	.	T	0.50069	0.1594	L	0.36672	1.1	0.27806	N	0.942318	D;D	0.61080	0.981;0.989	D;D	0.72625	0.95;0.978	T	0.37709	-0.9694	8	0.87932	D	0	-9.5337	6.948	0.24530	0.8924:0.0:0.1076:0.0	.	584;581	Q92804;Q92804-2	RBP56_HUMAN;.	S	584;387	.	ENSP00000309558:R584S	R	+	3	2	TAF15	31198035	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.264000	0.72527	0.640000	0.30582	0.373000	0.22412	AGA	TAF15	-	NULL		0.413	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF15	HGNC	protein_coding	OTTHUMT00000449134.1	A	NM_139215		34173922	1	no_errors	ENST00000588240	ensembl	human	known	70_37	missense	SNP	1.000	T	T	34173922	A	T	34173922	3	4	193	1	0	0	0	0	1	0	0	0	15548	243	9	5	1814	5	TAF15	17	34173922	Missense_Mutation	SNP	A	TCGA-UC-A7PF-01A-11D-A351-09	6284342	34173922	47021288	333	36993										
ACACA	31	genome.wustl.edu	37	chr17	35687173	35687173	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccaaatcagagagtgtatctGagccaacagaagcaggtgac	11	9	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:35687173G>A	ENST00000394406.2	-	3	357	c.167C>T	c.(166-168)tCa>tTa	p.S56L	ACACA_ENST00000353139.5_Missense_Mutation_p.S93L|ACACA_ENST00000416895.1_Missense_Mutation_p.S56L|ACACA_ENST00000588142.1_Missense_Mutation_p.S56L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	56					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAGTGTATCTGAGCCAACAGA	0.468																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													156	134	142					17																	35687173		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.167C>T	17.37:g.35687173G>A	ENSP00000377928:p.Ser56Leu		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.S93L	ENST00000394406.2	37	c.278	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077185	0.76415	.	.	ENSG00000132142	ENST00000353139;ENST00000394406;ENST00000452074;ENST00000451642;ENST00000416895	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.67	5.67	0.87782	.	0.203246	0.44483	D	0.000444	T	0.34250	0.0891	N	0.19112	0.55	0.80722	D	1	B;B	0.15930	0.001;0.015	B;B	0.10450	0.002;0.005	T	0.08617	-1.0713	10	0.56958	D	0.05	-7.919	19.7705	0.96361	0.0:0.0:1.0:0.0	.	93;56	Q13085-4;Q13085	.;ACACA_HUMAN	L	93;56;80;56;56	ENSP00000344789:S93L;ENSP00000377928:S56L;ENSP00000397282:S56L;ENSP00000399445:S56L	ENSP00000344789:S93L	S	-	2	0	ACACA	32761286	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.989000	0.88205	2.669000	0.90835	0.655000	0.94253	TCA	ACACA	-	NULL		0.468	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	G	NM_198836		35687173	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35687173	G	A	35687173	3	1	193	1	0	0	0	0	1	0	0	0	106	1294	45	1	7146	1	ACACA	17	35687173	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1513251	35687173	45508037	334	36994										
CDK12	51755	genome.wustl.edu	37	chr17	37687065	37687065	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccacatgagcaccaggccttGagaccaatggagtactccac	9	14	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:37687065G>C	ENST00000447079.4	+	14	4002	c.3969G>C	c.(3967-3969)ttG>ttC	p.L1323F	CDK12_ENST00000430627.2_Missense_Mutation_p.L1314F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1323					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCAGGCCTTGAGACCAATGG	0.562			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													91	94	93					17																	37687065		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3969G>C	17.37:g.37687065G>C	ENSP00000398880:p.Leu1323Phe		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L1323F	ENST00000447079.4	37	c.3969	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	5.213	0.224840	0.09916	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.68624	-0.34;-0.33	5.45	5.45	0.79879	.	0.184554	0.26662	N	0.023149	T	0.48429	0.1499	N	0.08118	0	0.36231	D	0.852618	B;B	0.25441	0.077;0.126	B;B	0.26864	0.034;0.074	T	0.57165	-0.7858	10	0.59425	D	0.04	-0.858	13.8722	0.63626	0.0:0.153:0.8469:0.0	.	1323;1314	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	F	1314;1323	ENSP00000407720:L1314F;ENSP00000398880:L1323F	ENSP00000407720:L1314F	L	+	3	2	CDK12	34940591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.659000	0.37387	2.836000	0.97738	0.655000	0.94253	TTG	CDK12	-	NULL		0.562	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	G	NM_016507		37687065	1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	1.000	C	C	37687065	G	C	37687065	3	2	193	1	0	0	0	0	1	0	0	0	3133	1281	45	1	4023	1	CDK12	17	37687065	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1999892	37687065	43508145	335	36995										
TNS4	84951	genome.wustl.edu	37	chr17	38644991	38644991	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gctgggggaatttgggggtcGaggggagagaccctctgagg	21	6	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:38644991G>A	ENST00000254051.6	-	3	828	c.670C>T	c.(670-672)Cga>Tga	p.R224*		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	224	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTTGGGGGTCGAGGGGAGAGA	0.647																																																	0													18	23	21					17																	38644991		2139	4253	6392	SO:0001587	stop_gained	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.670C>T	17.37:g.38644991G>A	ENSP00000254051:p.Arg224*		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Nonsense_Mutation	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.R224*	ENST00000254051.6	37	c.670	CCDS11368.1	17	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370041	0.61624	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	.	.	.	5.77	4.8	0.61643	.	2.667480	0.01119	N	0.005750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	1.4959	9.8611	0.41114	0.1578:0.0:0.8422:0.0	.	.	.	.	X	224	.	ENSP00000254051:R224X	R	-	1	2	TNS4	35898517	0.001000	0.12720	0.034000	0.17996	0.015000	0.08874	0.943000	0.29030	1.447000	0.47661	0.563000	0.77884	CGA	TNS4	-	NULL		0.647	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	G	NM_032865		38644991	-1	no_errors	ENST00000254051	ensembl	human	known	70_37	nonsense	SNP	0.068	A	A	38644991	G	A	38644991	4	1	193	1	0	0	0	0	0	1	0	0	16375	1066	37	1	1521	1	TNS4	17	38644991	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	957926	38644991	42550219	336	36996										
KCNH4	23415	genome.wustl.edu	37	chr17	40312447	40312447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agacacctcctgattgagacGagagatctgttgaaaacaca	9	9	1	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:40312447G>A	ENST00000264661.3	-	16	2997	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	KCNH4_ENST00000607371.1_Missense_Mutation_p.R889C	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	889					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGATTGAGACGAGAGATCTGT	0.572																																					NSCLC(117;707 1703 2300 21308 31858)												0													38	40	39					17																	40312447		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2665C>T	17.37:g.40312447G>A	ENSP00000264661:p.Arg889Cys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R889C	ENST00000264661.3	37	c.2665	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882306	0.33255	.	.	ENSG00000089558	ENST00000264661	D	0.98792	-5.14	4.95	2.94	0.34122	.	0.587151	0.12395	N	0.472626	D	0.94686	0.8286	N	0.14661	0.345	0.39998	D	0.975127	B	0.06786	0.001	B	0.01281	0.0	D	0.90619	0.4558	10	0.62326	D	0.03	.	5.9312	0.19140	0.0891:0.0:0.5748:0.3362	.	889	Q9UQ05	KCNH4_HUMAN	C	889	ENSP00000264661:R889C	ENSP00000264661:R889C	R	-	1	0	KCNH4	37565973	0.974000	0.33945	0.992000	0.48379	0.974000	0.67602	0.729000	0.26028	0.662000	0.31006	0.561000	0.74099	CGT	KCNH4	-	NULL		0.572	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	G	NM_012285		40312447	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	0.945	A	A	40312447	G	A	40312447	3	1	193	1	0	0	0	0	1	0	0	0	8054	1058	37	1	392	1	KCNH4	17	40312447	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1667456	40312447	40882763	337	36997										
PLEKHH3	79990	genome.wustl.edu	37	chr17	40823481	40823481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acgcggaaatctccgccagcGagggcaccagctctctgccg	12	16	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:40823481G>A	ENST00000591022.1	-	8	1559	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.S391L|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.S391L	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	391	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTCCGCCAGCGAGGGCACCAG	0.677																																																	0													29	27	28					17																	40823481		2202	4299	6501	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1172C>T	17.37:g.40823481G>A	ENSP00000468678:p.Ser391Leu		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S391L	ENST00000591022.1	37	c.1172	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864565	0.91511	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D;D	0.93189	-3.18;-3.18	4.7	4.7	0.59300	MyTH4 domain (2);	0.000000	0.38272	N	0.001760	D	0.96568	0.8880	M	0.81341	2.54	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.71414	0.954;0.973	D	0.97261	0.9904	10	0.72032	D	0.01	-21.6602	17.2756	0.87114	0.0:0.0:1.0:0.0	.	391;391	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	L	53;391;391	ENSP00000293349:S391L;ENSP00000411885:S391L	ENSP00000293349:S391L	S	-	2	0	PLEKHH3	38077007	1.000000	0.71417	0.078000	0.20375	0.643000	0.38383	7.843000	0.86859	2.166000	0.68216	0.561000	0.74099	TCG	PLEKHH3	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom		0.677	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	G	NM_024927		40823481	-1	no_errors	ENST00000591022	ensembl	human	known	70_37	missense	SNP	0.980	A	A	40823481	G	A	40823481	3	1	193	1	0	0	0	0	1	0	0	0	12102	1059	37	1	1233	1	PLEKHH3	17	40823481	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	511034	40823481	40371729	338	36998										
NMT1	4836	genome.wustl.edu	37	chr17	43180327	43180327	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcttgcctccagactcccaaGacagctgggctgcgaccaat	9	15	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:43180327G>A	ENST00000592782.1	+	10	1133	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	NMT1_ENST00000258960.2_Silent_p.K334K			P30419	NMT1_HUMAN	N-myristoyltransferase 1	334					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGACTCCCAAGACAGCTGGGC	0.527																																																	0													80	79	79					17																	43180327		2203	4300	6503	SO:0001819	synonymous_variant	4836				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1002G>A	17.37:g.43180327G>A			A8K7C1|Q9UE09	Silent	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.K334	ENST00000592782.1	37	c.1002	CCDS11494.1	17																																																																																			NMT1	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.527	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	G	NM_021079		43180327	1	no_errors	ENST00000258960	ensembl	human	known	70_37	silent	SNP	1.000	A	A	43180327	G	A	43180327	2	1	193	1	0	0	0	0	0	0	0	1	10527	933	33	1		1	NMT1	17	43180327	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2356846	43180327	38014883	339	36999										
MBTD1	54799	genome.wustl.edu	37	chr17	49281254	49281254	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtccagaccagagtcattttCaaatccttcatatcttaaaa	4	10	4	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:49281254C>G	ENST00000586178.1	-	8	980	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	MBTD1_ENST00000415868.1_Missense_Mutation_p.E213Q|MBTD1_ENST00000376381.2_Missense_Mutation_p.E213Q	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	213					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGTCATTTTCAAATCCTTCA	0.368																																																	0													158	161	160					17																	49281254		2203	4300	6503	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.637G>C	17.37:g.49281254C>G	ENSP00000468304:p.Glu213Gln		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.E213Q	ENST00000586178.1	37	c.637	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	c	18.38	3.610881	0.66558	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.48836	0.8;0.8	5.32	5.32	0.75619	.	0.138889	0.64402	D	0.000005	T	0.54565	0.1866	L	0.43152	1.355	0.47819	D	0.999523	D;B;P	0.54207	0.965;0.16;0.535	P;B;B	0.53490	0.727;0.086;0.381	T	0.46373	-0.9196	10	0.28530	T	0.3	.	19.1004	0.93272	0.0:1.0:0.0:0.0	.	213;213;49	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	Q	213	ENSP00000403946:E213Q;ENSP00000365561:E213Q	ENSP00000365561:E213Q	E	-	1	0	MBTD1	46636253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.509000	0.84616	0.627000	0.83407	GAA	MBTD1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.368	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	C			49281254	-1	no_errors	ENST00000415868	ensembl	human	known	70_37	missense	SNP	1.000	G	G	49281254	C	G	49281254	3	3	193	1	0	0	0	0	1	0	0	0	9383	835	29	1	1289	1	MBTD1	17	49281254	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	6100927	49281254	31913956	340	37000										
SCN4A	6329	genome.wustl.edu	37	chr17	62019319	62019319	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cggaacagcgtgggtgacacGaagtacttctggatcaggtc	14	9	2	1	rs372442108		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:62019319G>A	ENST00000435607.1	-	24	4399	c.4323C>T	c.(4321-4323)ttC>ttT	p.F1441F	SCN4A_ENST00000578147.1_Silent_p.F1441F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1441					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGGTGACACGAAGTACTTCT	0.677													G|||	1	0.000199681	8e-04	0	5008	,	,		16081	0		0	False		,,,				2504	0																0								G		2,4370		0,2,2184	23	24	24		4323	0.9	1	17		24	0,8558		0,0,4279	no	coding-synonymous	SCN4A	NM_000334.4		0,2,6463	AA,AG,GG		0.0,0.0457,0.0155		1441/1837	62019319	2,12928	2186	4279	6465	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4323C>T	17.37:g.62019319G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.F1441	ENST00000435607.1	37	c.4323	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom		0.677	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		G	NM_000334		62019319	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	1.000	A	A	62019319	G	A	62019319	2	1	193	1	0	0	0	0	0	0	0	1	13950	1049	37	1		1	SCN4A	17	62019319	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	12738065	62019319	19175891	341	37001										
PRKCA	5578	genome.wustl.edu	37	chr17	64685163	64685163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tggaactcaggcagaaattcGaggtgaggataacaaaatgc	12	6	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:64685163G>A	ENST00000413366.3	+	8	942	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	306					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GCAGAAATTCGAGGTGAGGAT	0.443																																																	0													78	68	72					17																	64685163		2203	4300	6503	SO:0001583	missense	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.916G>A	17.37:g.64685163G>A	ENSP00000408695:p.Glu306Lys		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.E306K	ENST00000413366.3	37	c.916	CCDS11664.1	17	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810554	0.70797	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.70631	-0.5	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	L	0.59436	1.845	0.80722	D	1	B;B	0.24092	0.011;0.097	B;B	0.21546	0.014;0.035	T	0.63686	-0.6581	10	0.15952	T	0.53	.	18.8283	0.92127	0.0:0.0:1.0:0.0	.	306;217	P17252;Q59FI5	KPCA_HUMAN;.	K	306;213	ENSP00000408695:E306K	ENSP00000284384:E213K	E	+	1	0	PRKCA	62115625	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.388000	0.97237	2.443000	0.82685	0.561000	0.74099	GAG	PRKCA	-	pirsf_Protein_kinase_C_a/b/g		0.443	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	G			64685163	1	no_errors	ENST00000413366	ensembl	human	known	70_37	missense	SNP	1.000	A	A	64685163	G	A	64685163	3	1	193	1	0	0	0	0	1	0	0	0	12534	1059	37	1	946	1	PRKCA	17	64685163	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2665844	64685163	16510047	342	37002										
MXRA7	439921	genome.wustl.edu	37	chr17	74673769	74673769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agcttgaagatggcagccagCtgttccttctgaactctgtc	10	11	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:74673769C>T	ENST00000355797.3	-	4	524	c.516G>A	c.(514-516)caG>caA	p.Q172Q		NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	172						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TGGCAGCCAGCTGTTCCTTCT	0.567																																																	0													116	102	107					17																	74673769		2203	4300	6503	SO:0001819	synonymous_variant	439921			BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.516G>A	17.37:g.74673769C>T			Q0P5W3	Silent	SNP	NULL	p.Q172	ENST00000355797.3	37	c.516	CCDS32745.1	17																																																																																			MXRA7	-	NULL		0.567	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MXRA7	HGNC	protein_coding	OTTHUMT00000450983.1	C	NM_001008529		74673769	-1	no_errors	ENST00000355797	ensembl	human	known	70_37	silent	SNP	1.000	T	T	74673769	C	T	74673769	2	4	193	1	0	0	0	0	0	0	0	1	10027	796	28	4		4	MXRA7	17	74673769	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	9988606	74673769	6521441	343	37003										
TMC8	147138	genome.wustl.edu	37	chr17	76128447	76128447	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tctcccactgcaggcctcttCggcacaggaattcggtccta	9	15	2	0	rs199498761		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:76128447C>G	ENST00000318430.5	+	4	680	c.306C>G	c.(304-306)ttC>ttG	p.F102L	TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	102					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAGGCCTCTTCGGCACAGGAA	0.692																																																	0													44	35	38					17																	76128447		2201	4299	6500	SO:0001583	missense	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.306C>G	17.37:g.76128447C>G	ENSP00000325561:p.Phe102Leu		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.F102L	ENST00000318430.5	37	c.306	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547268	0.45383	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	D	0.83992	-1.79	3.87	-2.75	0.05914	.	0.063063	0.64402	D	0.000006	D	0.89733	0.6800	M	0.90542	3.125	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.87217	0.2251	10	0.87932	D	0	-15.6166	8.9655	0.35874	0.0:0.5248:0.0:0.4752	.	102	Q8IU68	TMC8_HUMAN	L	102	ENSP00000325561:F102L	ENSP00000301627:F102L	F	+	3	2	TMC8	73640042	0.111000	0.22076	0.958000	0.39756	0.097000	0.18754	-0.829000	0.04415	-0.750000	0.04740	-0.265000	0.10407	TTC	TMC8	-	NULL		0.692	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	C			76128447	1	no_errors	ENST00000318430	ensembl	human	known	70_37	missense	SNP	0.978	G	G	76128447	C	G	76128447	3	3	193	1	0	0	0	0	1	0	0	0	16021	883	31	1	316	1	TMC8	17	76128447	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1454678	76128447	5066763	344	37004										
TMC8	147138	genome.wustl.edu	37	chr17	76130600	76130600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctcctggtggttggggccatCagcgccatcttctgggctac	13	13	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:76130600C>G	ENST00000318430.5	+	8	1316	c.942C>G	c.(940-942)atC>atG	p.I314M	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_Missense_Mutation_p.I91M	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	314					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TTGGGGCCATCAGCGCCATCT	0.607																																																	0													54	59	57					17																	76130600		2203	4300	6503	SO:0001583	missense	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.942C>G	17.37:g.76130600C>G	ENSP00000325561:p.Ile314Met		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.I314M	ENST00000318430.5	37	c.942	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374972	0.61735	.	.	ENSG00000167895	ENST00000318430	T	0.50548	0.74	4.71	3.72	0.42706	.	0.162922	0.53938	D	0.000051	T	0.57095	0.2030	M	0.65975	2.015	0.32015	N	0.601515	D;D	0.71674	0.979;0.998	P;P	0.61940	0.827;0.896	T	0.61922	-0.6963	10	0.33940	T	0.23	-36.5972	7.0959	0.25309	0.0:0.7297:0.1725:0.0978	.	314;314	A5D8Y4;Q8IU68	.;TMC8_HUMAN	M	314	ENSP00000325561:I314M	ENSP00000325561:I314M	I	+	3	3	TMC8	73642195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.934000	0.40163	2.161000	0.67846	0.561000	0.74099	ATC	TMC8	-	NULL		0.607	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	C			76130600	1	no_errors	ENST00000318430	ensembl	human	known	70_37	missense	SNP	0.999	G	G	76130600	C	G	76130600	3	3	193	1	0	0	0	0	1	0	0	0	16021	816	29	1	968	1	TMC8	17	76130600	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2153	76130600	5064610	345	37005										
SLC26A11	284129	genome.wustl.edu	37	chr17	78211333	78211333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tctctcaggacatgggagccGggctggccgtggtgcccctg	16	13	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:78211333G>A	ENST00000361193.3	+	9	1205	c.925G>A	c.(925-927)Ggg>Agg	p.G309R	SLC26A11_ENST00000572725.1_Missense_Mutation_p.G309R|SLC26A11_ENST00000411502.3_Missense_Mutation_p.G309R|SLC26A11_ENST00000546047.2_Missense_Mutation_p.G309R	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATGGGAGCCGGGCTGGCCGT	0.642																																																	0													40	33	35					17																	78211333		2203	4300	6503	SO:0001583	missense	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.925G>A	17.37:g.78211333G>A	ENSP00000355384:p.Gly309Arg			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.G309R	ENST00000361193.3	37	c.925	CCDS11771.2	17	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676332	0.88445	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92805	-3.11;-3.11;-3.11	4.89	4.89	0.63831	Sulphate transporter (1);	0.047728	0.85682	D	0.000000	D	0.96188	0.8757	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	D	0.96464	0.9343	10	0.56958	D	0.05	-28.1503	18.0013	0.89198	0.0:0.0:1.0:0.0	.	309	Q86WA9	S2611_HUMAN	R	309	ENSP00000403998:G309R;ENSP00000440724:G309R;ENSP00000355384:G309R	ENSP00000355384:G309R	G	+	1	0	SLC26A11	75825928	1.000000	0.71417	0.952000	0.39060	0.773000	0.43773	9.112000	0.94314	2.410000	0.81850	0.467000	0.42956	GGG	SLC26A11	-	pfam_Sulph_transpt		0.642	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000257281.1	G			78211333	1	no_errors	ENST00000361193	ensembl	human	known	70_37	missense	SNP	0.999	A	A	78211333	G	A	78211333	3	1	193	1	0	0	0	0	1	0	0	0	14546	1116	39	2	951	2	SLC26A11	17	78211333	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2080733	78211333	2983877	346	37006										
NARF	26502	genome.wustl.edu	37	chr17	80445795	80445795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctgtgtttatctttcaggatGcttaaatggcagaggccaag	11	7	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:80445795G>A	ENST00000309794.11	+	11	1331	c.1133G>A	c.(1132-1134)tGc>tAc	p.C378Y	NARF_ENST00000457415.3_Missense_Mutation_p.C424Y|NARF_ENST00000345415.7_Missense_Mutation_p.C330Y|NARF_ENST00000390006.4_Missense_Mutation_p.C319Y	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	378						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTTTCAGGATGCTTAAATGGC	0.537																																																	0													57	56	56					17																	80445795		2203	4300	6503	SO:0001583	missense	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1133G>A	17.37:g.80445795G>A	ENSP00000309899:p.Cys378Tyr		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.C378Y	ENST00000309794.11	37	c.1133	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449074	0.43531	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	D;D;D	0.94758	-3.51;-3.51;-3.51	5.58	5.58	0.84498	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99497	1.0952	10	0.87932	D	0	-16.5114	18.5542	0.91077	0.0:0.0:1.0:0.0	.	424;330;425;378	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	Y	319;425;378;330	ENSP00000374656:C319Y;ENSP00000309899:C378Y;ENSP00000283996:C330Y	ENSP00000309899:C378Y	C	+	2	0	NARF	78039084	1.000000	0.71417	0.268000	0.24571	0.968000	0.65278	7.244000	0.78228	2.625000	0.88918	0.650000	0.86243	TGC	NARF	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase		0.537	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	G	NM_031968		80445795	1	no_errors	ENST00000309794	ensembl	human	known	70_37	missense	SNP	0.996	A	A	80445795	G	A	80445795	3	1	193	1	0	0	0	0	1	0	0	0	10190	1319	46	4	1317	4	NARF	17	80445795	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2234462	80445795	749415	347	37007										
COLEC12	81035	genome.wustl.edu	37	chr18	346407	346407	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgtctaacctcgacctcatCaaatcttgttgcatcctgag	7	12	4	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:346407C>T	ENST00000400256.3	-	5	1422	c.1215G>A	c.(1213-1215)ttG>ttA	p.L405L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	405					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCGACCTCATCAAATCTTGTT	0.418																																																	0													154	135	142					18																	346407		2203	4300	6503	SO:0001819	synonymous_variant	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1215G>A	18.37:g.346407C>T			Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.L405	ENST00000400256.3	37	c.1215	CCDS32782.1	18																																																																																			COLEC12	-	NULL		0.418	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	C			346407	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	silent	SNP	1.000	T	T	346407	C	T	346407	2	4	193	1	0	0	0	0	0	0	0	1	3717	825	29	1		1	COLEC12	18	346407	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		346407	77730841	348	37008										
LPIN2	9663	genome.wustl.edu	37	chr18	2938016	2938016	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctgtcctaggatgatggtcaGatcgttctcttttgctgacc	10	10	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:2938016G>C	ENST00000261596.4	-	7	1080	c.842C>G	c.(841-843)tCt>tGt	p.S281C		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	281					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATGATGGTCAGATCGTTCTCT	0.353																																																	0													126	119	122					18																	2938016		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.842C>G	18.37:g.2938016G>C	ENSP00000261596:p.Ser281Cys		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.S281C	ENST00000261596.4	37	c.842	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202287	0.22121	.	.	ENSG00000101577	ENST00000261596	T	0.81078	-1.45	5.86	3.02	0.34903	.	1.532730	0.03027	N	0.151510	T	0.80177	0.4575	M	0.71036	2.16	0.09310	N	1	P	0.36027	0.533	B	0.38921	0.285	T	0.61133	-0.7124	10	0.59425	D	0.04	0.4316	1.763	0.02996	0.1985:0.1516:0.483:0.1669	.	281	Q92539	LPIN2_HUMAN	C	281	ENSP00000261596:S281C	ENSP00000261596:S281C	S	-	2	0	LPIN2	2928016	0.127000	0.22367	0.011000	0.14972	0.800000	0.45204	2.722000	0.47269	0.338000	0.23692	0.655000	0.94253	TCT	LPIN2	-	NULL		0.353	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	G	NM_014646		2938016	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	missense	SNP	0.001	C	C	2938016	G	C	2938016	3	2	193	1	0	0	0	0	1	0	0	0	8942	942	33	1	1904	1	LPIN2	18	2938016	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2591609	2938016	75139232	349	37009										
L3MBTL4	91133	genome.wustl.edu	37	chr18	6238035	6238035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gacataagggctattaacatCgcacctgcaaaaacagagct	8	10	0	1	rs371583101		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:6238035C>T	ENST00000284898.6	-	10	912	c.712G>A	c.(712-714)Gat>Aat	p.D238N	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.D238N|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.D238N|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.D51N|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.D238N	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	238					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTATTAACATCGCACCTGCAA	0.433																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0								C	ASN/ASP	0,4406		0,0,2203	160	135	143		712	4	1	18		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	L3MBTL4	NM_173464.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	238/624	6238035	1,13005	2203	4300	6503	SO:0001583	missense	91133			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.712G>A	18.37:g.6238035C>T	ENSP00000284898:p.Asp238Asn		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.D238N	ENST00000284898.6	37	c.712	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823835	0.71143	0.0	1.16E-4	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.9	4.03	0.46877	.	0.000000	0.64402	D	0.000009	T	0.63082	0.2481	M	0.67517	2.055	0.42205	D	0.991787	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.969	T	0.62148	-0.6915	10	0.38643	T	0.18	.	10.9339	0.47235	0.0:0.907:0.0:0.093	.	238;238	Q8NA19;F8W9S8	LMBL4_HUMAN;.	N	238;238;238;51;238	ENSP00000382976:D238N;ENSP00000318543:D238N;ENSP00000284898:D238N;ENSP00000444774:D51N;ENSP00000382975:D238N	ENSP00000284898:D238N	D	-	1	0	L3MBTL4	6228035	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	5.462000	0.66707	1.065000	0.40693	0.585000	0.79938	GAT	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.433	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	C	NM_173464		6238035	-1	no_errors	ENST00000284898	ensembl	human	known	70_37	missense	SNP	1.000	T	T	6238035	C	T	6238035	3	4	193	1	0	0	0	0	1	0	0	0	8614	884	31	1	1203	1	L3MBTL4	18	6238035	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3300019	6238035	71839213	350	37010										
ZNF521	25925	genome.wustl.edu	37	chr18	22806495	22806495	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aacaatcagacctgggtcctGagcttcatgcacttgcttaa	8	11	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:22806495G>C	ENST00000361524.3	-	4	1535	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	ZNF521_ENST00000538137.2_Missense_Mutation_p.Q463E|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q243E	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	463					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCTGGGTCCTGAGCTTCATGC	0.458			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													94	92	93					18																	22806495		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1387C>G	18.37:g.22806495G>C	ENSP00000354794:p.Gln463Glu		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q463E	ENST00000361524.3	37	c.1387	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	9.721	1.159613	0.21454	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07216	3.21;3.25	6.06	6.06	0.98353	Zinc finger, C2H2 (1);	0.168518	0.52532	D	0.000063	T	0.04497	0.0123	N	0.03608	-0.345	0.32777	N	0.503065	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.02654	T	1	-25.5103	20.6243	0.99512	0.0:0.0:1.0:0.0	.	463	Q96K83	ZN521_HUMAN	E	463;497;463	ENSP00000354794:Q463E;ENSP00000382352:Q463E	ENSP00000354794:Q463E	Q	-	1	0	ZNF521	21060493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.698000	0.68302	2.879000	0.98667	0.650000	0.86243	CAG	ZNF521	-	pfscan_Znf_C2H2		0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	G	NM_015461		22806495	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	C	C	22806495	G	C	22806495	3	2	193	1	0	0	0	0	1	0	0	0	17995	1299	45	1	2568	1	ZNF521	18	22806495	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	16568460	22806495	55270753	351	37011										
CDH20	28316	genome.wustl.edu	37	chr18	59217360	59217360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aagtgtgcagctgtgatgacGacggccacgtcatgtcctgc	13	11	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:59217360G>A	ENST00000262717.4	+	11	2196	c.1798G>A	c.(1798-1800)Gac>Aac	p.D600N	CDH20_ENST00000538374.1_Missense_Mutation_p.D600N|CDH20_ENST00000536675.2_Missense_Mutation_p.D600N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	600	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CTGTGATGACGACGGCCACGT	0.592																																																	0													72	52	58					18																	59217360		2203	4300	6503	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1798G>A	18.37:g.59217360G>A	ENSP00000262717:p.Asp600Asn		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D600N	ENST00000262717.4	37	c.1798	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000328	0.19121	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.36520	1.25;1.25;1.25	5.93	-1.83	0.07833	Cadherin (3);	0.592564	0.18913	N	0.127711	T	0.11281	0.0275	N	0.02192	-0.645	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31503	-0.9941	10	0.15499	T	0.54	.	7.563	0.27862	0.4603:0.1058:0.4339:0.0	.	600	Q9HBT6	CAD20_HUMAN	N	600	ENSP00000444767:D600N;ENSP00000442226:D600N;ENSP00000262717:D600N	ENSP00000262717:D600N	D	+	1	0	CDH20	57368340	0.006000	0.16342	0.003000	0.11579	0.256000	0.26092	1.238000	0.32707	-0.346000	0.08312	-0.742000	0.03525	GAC	CDH20	-	smart_Cadherin,pfscan_Cadherin		0.592	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	G	NM_031891		59217360	1	no_errors	ENST00000262717	ensembl	human	known	70_37	missense	SNP	0.006	A	A	59217360	G	A	59217360	3	1	193	1	0	0	0	0	1	0	0	0	3111	1058	37	1	1836	1	CDH20	18	59217360	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	36410865	59217360	18859888	352	37012										
RTTN	25914	genome.wustl.edu	37	chr18	67857917	67857917	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tatccaaaggtgaatgaacgGatatcctggagtttacatga	10	6	0	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:67857917G>C	ENST00000255674.6	-	9	1332	c.1046C>G	c.(1045-1047)tCc>tGc	p.S349C	RTTN_ENST00000437017.1_Missense_Mutation_p.S349C|RTTN_ENST00000454359.1_Missense_Mutation_p.S349C	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	349					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGAATGAACGGATATCCTGGA	0.418																																																	0													125	122	123					18																	67857917		1927	4156	6083	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1046C>G	18.37:g.67857917G>C	ENSP00000255674:p.Ser349Cys		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S349C	ENST00000255674.6	37	c.1046	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983674	0.53827	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.71698	0.14;-0.01;-0.59	5.24	5.24	0.73138	Armadillo-type fold (1);	0.200917	0.44483	D	0.000456	D	0.83110	0.5183	M	0.64997	1.995	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	D	0.84821	0.0796	10	0.87932	D	0	.	18.8383	0.92171	0.0:0.0:1.0:0.0	.	349;349	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	C	349	ENSP00000255674:S349C;ENSP00000402352:S349C;ENSP00000399520:S349C	ENSP00000255674:S349C	S	-	2	0	RTTN	66008897	0.990000	0.36364	0.054000	0.19295	0.574000	0.36063	4.066000	0.57520	2.440000	0.82611	0.655000	0.94253	TCC	RTTN	-	superfamily_ARM-type_fold		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67857917	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	missense	SNP	0.844	C	C	67857917	G	C	67857917	3	2	193	1	0	0	0	0	1	0	0	0	13767	1174	41	1	5798	1	RTTN	18	67857917	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	8640557	67857917	10219331	353	37013										
MIER2	54531	genome.wustl.edu	37	chr19	307174	307174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcacgtggggtgggcggccaGgaaggggttcacgtccccaa	18	11	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:307174G>A	ENST00000264819.4	-	13	1571	c.1561C>T	c.(1561-1563)Ctg>Ttg	p.L521L	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCGGCCAGGAAGGGGTTC	0.677																																																	0													23	22	22					19																	307174		2182	4289	6471	SO:0001819	synonymous_variant	54531			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1561C>T	19.37:g.307174G>A			Q9ULM7	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.L521	ENST00000264819.4	37	c.1561	CCDS32855.1	19																																																																																			MIER2	-	NULL		0.677	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	G	XM_041843		307174	-1	no_errors	ENST00000264819	ensembl	human	known	70_37	silent	SNP	1.000	A	A	307174	G	A	307174	2	1	193	1	0	0	0	0	0	0	0	1	9604	991	35	4		4	MIER2	19	307174	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		307174	58821809	354	37014										
BSG	682	genome.wustl.edu	37	chr19	572634	572634	+	De_novo_Start_InFrame	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaccggcgaggaataggaatCatggcggctgcgctgttcgt	16	9	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:572634C>A	ENST00000333511.3	+	0	70				BSG_ENST00000545507.2_Intron|AC009005.2_ENST00000588290.1_RNA|AC009005.2_ENST00000590292.1_RNA|BSG_ENST00000353555.4_De_novo_Start_InFrame|AC009005.2_ENST00000588908.1_RNA|BSG_ENST00000346916.4_Intron|AC009005.2_ENST00000589457.1_RNA	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)						blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAATAGGAATCATGGCGGCTG	0.726																																																	0													18	19	19					19																	572634		2124	4213	6337			682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613			19.37:g.572634C>A			A6NJW1|D3YLG5|Q7Z796|Q8IZL7	RNA	SNP	-	NULL	ENST00000333511.3	37	NULL	CCDS12033.1	19																																																																																			BSG	-	-		0.726	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		572634	1	no_errors	ENST00000590218	ensembl	human	known	70_37	rna	SNP	0.007	A	A	572634	C	A	572634	1	1	193	1	0	1	0	0	0	0	0	0	1532	841	29	3		3	BSG	19	572634	De_novo_Start_InFrame	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	265460	572634	58556349	355	37015										
C19orf22	91300	genome.wustl.edu	37	chr19	899468	899468	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atgaggtccatgtactggcaGacagcgtgcagcagaagcct	13	10	0	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:899468G>A	ENST00000361574.5	-	7	748	c.675C>T	c.(673-675)gtC>gtT	p.V225V	R3HDM4_ENST00000587975.1_Silent_p.V204V	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	225	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										TGTACTGGCAGACAGCGTGCA	0.677																																																	0													49	49	49					19																	899468		2203	4300	6503	SO:0001819	synonymous_variant	91300			BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 22"	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.675C>T	19.37:g.899468G>A				Silent	SNP	pfscan_R3H_ss-bd	p.V225	ENST00000361574.5	37	c.675	CCDS12048.1	19																																																																																			R3HDM4	-	pfscan_R3H_ss-bd		0.677	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	R3HDM4	HGNC	protein_coding	OTTHUMT00000458209.1	G	NM_138774		899468	-1	no_errors	ENST00000361574	ensembl	human	known	70_37	silent	SNP	0.630	A	A	899468	G	A	899468	2	1	193	1	0	0	0	0	0	0	0	1	1919	929	33	1		1	C19orf22	19	899468	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	326834	899468	58229515	356	37016										
ABCA7	10347	genome.wustl.edu	37	chr19	1053488	1053488	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gacacgcggctggcggagctGaggctcactggctacgggat	17	11	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:1053488G>A	ENST00000263094.6	+	24	3612	c.3381G>A	c.(3379-3381)ctG>ctA	p.L1127L	ABCA7_ENST00000433129.1_Silent_p.L1127L|ABCA7_ENST00000435683.2_Silent_p.L989L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1127					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCGGAGCTGAGGCTCACTG	0.667																																																	0													13	12	12					19																	1053488		2178	4259	6437	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3381G>A	19.37:g.1053488G>A			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1127	ENST00000263094.6	37	c.3381	CCDS12055.1	19																																																																																			ABCA7	-	NULL		0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	G	NM_019112		1053488	1	no_errors	ENST00000263094	ensembl	human	known	70_37	silent	SNP	0.999	A	A	1053488	G	A	1053488	2	1	193	1	0	0	0	0	0	0	0	1	37	1277	45	1		1	ABCA7	19	1053488	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	154020	1053488	58075495	357	37017										
SBNO2	22904	genome.wustl.edu	37	chr19	1119543	1119543	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gatggcgtgcaggaactcctCaaagttccggaagggtgtgc	15	9	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:1119543C>G	ENST00000361757.3	-	13	1582	c.1345G>C	c.(1345-1347)Gag>Cag	p.E449Q	SBNO2_ENST00000438103.2_Missense_Mutation_p.E392Q|SBNO2_ENST00000587024.1_Missense_Mutation_p.E449Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	449					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAACTCCTCAAAGTTCCGG	0.647																																																	0													30	33	32					19																	1119543		1951	4137	6088	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1345G>C	19.37:g.1119543C>G	ENSP00000354733:p.Glu449Gln		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.E449Q	ENST00000361757.3	37	c.1345	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959269	0.34565	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	D;D	0.94046	-3.34;-3.34	4.33	4.33	0.51752	.	0.581779	0.18439	N	0.141189	D	0.93562	0.7945	L	0.40543	1.245	0.34260	D	0.679843	D;B;D;P	0.61080	0.989;0.008;0.958;0.948	P;B;P;P	0.61722	0.893;0.044;0.816;0.72	D	0.93017	0.6437	10	0.17832	T	0.49	-18.8257	15.6124	0.76737	0.0:1.0:0.0:0.0	.	392;449;449;392	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	Q	449;392;473	ENSP00000354733:E449Q;ENSP00000400762:E392Q	ENSP00000250872:E473Q	E	-	1	0	SBNO2	1070543	1.000000	0.71417	0.937000	0.37676	0.027000	0.11550	5.478000	0.66806	2.247000	0.74100	0.558000	0.71614	GAG	SBNO2	-	NULL		0.647	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	C	NM_014963		1119543	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	1.000	G	G	1119543	C	G	1119543	3	3	193	1	0	0	0	0	1	0	0	0	13893	835	29	1	2835	1	SBNO2	19	1119543	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	66055	1119543	58009440	358	37018										
SLC39A3	29985	genome.wustl.edu	37	chr19	2732803	2732803	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgtagcccagcaccaggaaGaggaccttgagcagacggtc	14	11	0	3	rs145788012		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:2732803G>C	ENST00000269740.4	-	3	1220	c.891C>G	c.(889-891)ctC>ctG	p.L297L	SLC39A3_ENST00000545664.1_Silent_p.L297L|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	297					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCAGGAAGAGGACCTTGA	0.667																																																	0													53	42	45					19																	2732803		2203	4300	6503	SO:0001819	synonymous_variant	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.891C>G	19.37:g.2732803G>C			B3KMJ3|Q8WUG1	Silent	SNP	pfam_ZIP	p.L297	ENST00000269740.4	37	c.891	CCDS12093.1	19																																																																																			SLC39A3	-	pfam_ZIP		0.667	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A3	HGNC	protein_coding	OTTHUMT00000451354.2	G			2732803	-1	no_errors	ENST00000269740	ensembl	human	known	70_37	silent	SNP	1.000	C	C	2732803	G	C	2732803	2	2	193	1	0	0	0	0	0	0	0	1	14649	929	33	1		1	SLC39A3	19	2732803	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1613260	2732803	56396180	359	37019										
MATK	4145	genome.wustl.edu	37	chr19	3779086	3779086	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gccaggccaaagtcgctgacCttggccaccaggtcctctga	11	15	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:3779086C>G	ENST00000310132.6	-	12	1499	c.1101G>C	c.(1099-1101)aaG>aaC	p.K367N	MATK_ENST00000395045.2_Missense_Mutation_p.K368N|MATK_ENST00000395040.2_Missense_Mutation_p.K326N|MATK_ENST00000585778.1_Missense_Mutation_p.K367N	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	367	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCGCTGACCTTGGCCACCA	0.657																																																	0													30	32	31					19																	3779086		2203	4300	6503	SO:0001583	missense	4145			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1101G>C	19.37:g.3779086C>G	ENSP00000308734:p.Lys367Asn		B3KNZ9|Q9NST8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.K368N	ENST00000310132.6	37	c.1104	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741501	0.69304	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.73152	-0.72;-0.72;-0.72	4.47	3.41	0.39046	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.121976	0.53938	D	0.000053	D	0.88987	0.6587	H	0.99011	4.4	0.53005	D	0.99996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90739	0.4648	10	0.87932	D	0	-39.9677	9.5153	0.39102	0.0:0.8347:0.0:0.1653	.	367;368;367	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	N	368;367;326	ENSP00000378485:K368N;ENSP00000308734:K367N;ENSP00000378481:K326N	ENSP00000308734:K367N	K	-	3	2	MATK	3730086	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.368000	0.34216	2.225000	0.72522	0.478000	0.44815	AAG	MATK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.657	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	C	NM_139355		3779086	-1	no_errors	ENST00000395045	ensembl	human	known	70_37	missense	SNP	1.000	G	G	3779086	C	G	3779086	3	3	193	1	0	0	0	0	1	0	0	0	9355	680	24	4	434	4	MATK	19	3779086	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1046283	3779086	55349897	360	37020										
LRG1	116844	genome.wustl.edu	37	chr19	4538642	4538642	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgggttagatccagcaccctCagctgcggcactggccgcag	13	15	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:4538642C>G	ENST00000306390.6	-	2	814	c.354G>C	c.(352-354)ctG>ctC	p.L118L	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	118					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCACCCTCAGCTGCGGCA	0.627																																																	0													19	23	22					19																	4538642		2196	4292	6488	SO:0001819	synonymous_variant	116844				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.354G>C	19.37:g.4538642C>G			Q8N4F5|Q96QZ4	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L118	ENST00000306390.6	37	c.354	CCDS12130.1	19																																																																																			LRG1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.627	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	C	NM_052972		4538642	-1	no_errors	ENST00000306390	ensembl	human	known	70_37	silent	SNP	0.003	G	G	4538642	C	G	4538642	2	3	193	1	0	0	0	0	0	0	0	1	8965	813	29	1		1	LRG1	19	4538642	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	759556	4538642	54590341	361	37021										
SAFB	6294	genome.wustl.edu	37	chr19	5667852	5667852	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tggcgagagaagcatgtccgGtcactccgggcctggccaca	14	13	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:5667852G>C	ENST00000292123.5	+	20	2680	c.2573G>C	c.(2572-2574)gGt>gCt	p.G858A	SAFB_ENST00000454510.1_Missense_Mutation_p.G791A|SAFB_ENST00000588852.1_Missense_Mutation_p.G860A|SAFB_ENST00000592224.1_Missense_Mutation_p.G859A|SAFB_ENST00000433404.1_Missense_Mutation_p.G690A|SAFB_ENST00000538656.1_Missense_Mutation_p.G702A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	858	Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGCATGTCCGGTCACTCCGGG	0.607																																					Colon(88;338 1345 6184 8214 20897)												0													76	67	70					19																	5667852		2203	4300	6503	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2573G>C	19.37:g.5667852G>C	ENSP00000292123:p.Gly858Ala		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.G860A	ENST00000292123.5	37	c.2579	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382662	0.61845	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.15256	2.61;2.68;2.73;2.44	5.11	5.11	0.69529	.	0.000000	0.50627	D	0.000114	T	0.40040	0.1101	M	0.64997	1.995	0.48571	D	0.999672	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.87578	0.995;0.995;0.998;0.995;0.995;0.995;0.995	T	0.15321	-1.0441	10	0.72032	D	0.01	-21.6193	15.6348	0.76944	0.0:0.0:1.0:0.0	.	659;702;791;857;860;858;859	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	A	791;755;690;858;702	ENSP00000415895:G791A;ENSP00000404545:G690A;ENSP00000292123:G858A;ENSP00000438880:G702A	ENSP00000292123:G858A	G	+	2	0	SAFB	5618852	1.000000	0.71417	0.987000	0.45799	0.793000	0.44817	3.343000	0.52167	2.541000	0.85698	0.557000	0.71058	GGT	SAFB	-	NULL		0.607	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	G			5667852	1	no_errors	ENST00000588852	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5667852	G	C	5667852	3	2	193	1	0	0	0	0	1	0	0	0	13836	1261	44	4	2651	4	SAFB	19	5667852	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1129210	5667852	53461131	362	37022										
TMEM146	257062	genome.wustl.edu	37	chr19	5733954	5733954	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aagtctatatttatgattatGaaaataattcttggagcatg	7	3	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:5733954G>T	ENST00000381624.3	+	5	425	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	122					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TTATGATTATGAAAATAATTC	0.333																																																	0													110	108	109					19																	5733954		1833	4085	5918	SO:0001587	stop_gained	257062			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.364G>T	19.37:g.5733954G>T	ENSP00000371037:p.Glu122*		Q6ZRP1	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.E122*	ENST00000381624.3	37	c.364	CCDS12149.2	19	.	.	.	.	.	.	.	.	.	.	g	19.54	3.846280	0.71603	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	.	.	.	4.37	-3.0	0.05480	.	1.147720	0.06910	U	0.807446	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	4.7849	0.13220	0.5227:0.1626:0.3147:0.0	.	.	.	.	X	48;122	.	ENSP00000371037:E122X	E	+	1	0	TMEM146	5684954	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.109000	0.10840	-0.773000	0.04596	-0.156000	0.13503	GAA	CATSPERD	-	superfamily_WD40_repeat_dom		0.333	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	G	NM_152784		5733954	1	no_errors	ENST00000381624	ensembl	human	known	70_37	nonsense	SNP	0.000	T	T	5733954	G	T	5733954	4	4	193	1	0	0	0	0	0	1	0	0	16090	1291	45	3	382	3	TMEM146	19	5733954	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	66102	5733954	53395029	363	37023										
DENND1C	79958	genome.wustl.edu	37	chr19	6471304	6471304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgtcggcccagagctgatagGatcgaagggcccctggggta	16	10	0	2	rs544452638		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:6471304G>A	ENST00000381480.2	-	17	1374	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	DENND1C_ENST00000543576.1_Missense_Mutation_p.S377F	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	421					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCTGATAGGATCGAAGGGC	0.602																																																	0													58	56	56					19																	6471304		1948	4144	6092	SO:0001583	missense	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1262C>T	19.37:g.6471304G>A	ENSP00000370889:p.Ser421Phe		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S421F	ENST00000381480.2	37	c.1262	CCDS45938.1	19	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372175	0.61624	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.12465	2.85;2.68	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	M	0.71206	2.165	0.42502	D	0.992932	D	0.53885	0.963	P	0.58454	0.839	T	0.09335	-1.0679	10	0.09590	T	0.72	-34.6277	15.7618	0.78087	0.0:0.0:1.0:0.0	.	421	Q8IV53	DEN1C_HUMAN	F	421;377	ENSP00000370889:S421F;ENSP00000437805:S377F	ENSP00000370889:S421F	S	-	2	0	DENND1C	6422304	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	6.300000	0.72776	2.324000	0.78689	0.462000	0.41574	TCC	DENND1C	-	NULL		0.602	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1C	HGNC	protein_coding	OTTHUMT00000453332.2	G	NM_024898		6471304	-1	no_errors	ENST00000381480	ensembl	human	known	70_37	missense	SNP	1.000	A	A	6471304	G	A	6471304	3	1	193	1	0	0	0	0	1	0	0	0	4438	1174	41	1	1171	1	DENND1C	19	6471304	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	737350	6471304	52657679	364	37024										
VAV1	7409	genome.wustl.edu	37	chr19	6828096	6828096	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgattccccaggaatgttctCagagagccaacaacgggagg	12	10	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:6828096C>T	ENST00000602142.1	+	10	1019	c.937C>T	c.(937-939)Cag>Tag	p.Q313*	VAV1_ENST00000596764.1_Nonsense_Mutation_p.Q281*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.Q216*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.Q313*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.Q258*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	313	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAATGTTCTCAGAGAGCCAA	0.527																																																	0													72	68	69					19																	6828096		2203	4300	6503	SO:0001587	stop_gained	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.937C>T	19.37:g.6828096C>T	ENSP00000472929:p.Gln313*		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.Q313*	ENST00000602142.1	37	c.937	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323841	0.81580	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.63	4.63	0.57726	.	0.134965	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0104	0.71545	0.0:1.0:0.0:0.0	.	.	.	.	X	313;216	.	ENSP00000302269:Q313X	Q	+	1	0	VAV1	6779096	0.998000	0.40836	0.995000	0.50966	0.374000	0.29953	2.774000	0.47694	2.146000	0.66826	0.563000	0.77884	CAG	VAV1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.527	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	C			6828096	1	no_errors	ENST00000602142	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	6828096	C	T	6828096	4	4	193	1	0	0	0	0	0	1	0	0	17162	827	29	1	975	1	VAV1	19	6828096	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	356792	6828096	52300887	365	37025										
PNPLA6	10908	genome.wustl.edu	37	chr19	7618874	7618874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccatggtggccttcacgctgGagctgcagcacgccctgcag	13	15	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:7618874G>C	ENST00000221249.6	+	22	2691	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q	PNPLA6_ENST00000450331.3_Missense_Mutation_p.E754Q|PNPLA6_ENST00000545201.2_Missense_Mutation_p.E727Q|PNPLA6_ENST00000414982.3_Missense_Mutation_p.E802Q|PNPLA6_ENST00000600737.1_Missense_Mutation_p.E792Q	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	793					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTCACGCTGGAGCTGCAGCA	0.627																																																	0													60	48	52					19																	7618874		2203	4300	6503	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2260G>C	19.37:g.7618874G>C	ENSP00000221249:p.Glu754Gln		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E802Q	ENST00000221249.6	37	c.2404	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762212	0.89932	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.04809	3.56;3.59;3.55;3.56	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.82056	2.57	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	T	0.00768	-1.1574	10	0.72032	D	0.01	.	15.8966	0.79338	0.0:0.0:1.0:0.0	.	793;727;792;754	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	Q	754;727;802;754	ENSP00000221249:E754Q;ENSP00000443323:E727Q;ENSP00000407509:E802Q;ENSP00000394348:E754Q	ENSP00000221249:E754Q	E	+	1	0	PNPLA6	7524874	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.816000	0.99350	2.343000	0.79666	0.394000	0.25966	GAG	PNPLA6	-	NULL		0.627	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	G	NM_006702		7618874	1	no_errors	ENST00000414982	ensembl	human	known	70_37	missense	SNP	1.000	C	C	7618874	G	C	7618874	3	2	193	1	0	0	0	0	1	0	0	0	12193	1175	41	1	2482	1	PNPLA6	19	7618874	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	790778	7618874	51510109	366	37026										
MUC16	94025	genome.wustl.edu	37	chr19	9075567	9075567	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tggaatgagaagcatgttcgGaacttgtgacccagcctgtg	13	8	0	2	rs182640895		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:9075567G>C	ENST00000397910.4	-	3	12082	c.11879C>G	c.(11878-11880)tCc>tGc	p.S3960C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3962	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCATGTTCGGAACTTGTGAC	0.493																																																	0													75	73	74					19																	9075567		2062	4193	6255	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11879C>G	19.37:g.9075567G>C	ENSP00000381008:p.Ser3960Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S3960C	ENST00000397910.4	37	c.11879	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.383	-0.341711	0.05243	.	.	ENSG00000181143	ENST00000397910	T	0.32023	1.47	2.08	0.973	0.19710	.	.	.	.	.	T	0.43144	0.1234	L	0.50333	1.59	.	.	.	D	0.89917	1.0	D	0.83275	0.996	T	0.51482	-0.8700	8	0.87932	D	0	.	5.7	0.17877	0.0:0.0:0.6803:0.3197	.	3960	B5ME49	.	C	3960	ENSP00000381008:S3960C	ENSP00000381008:S3960C	S	-	2	0	MUC16	8936567	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.148000	0.16224	0.406000	0.25560	0.313000	0.20887	TCC	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9075567	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.002	C	C	9075567	G	C	9075567	3	2	193	1	0	0	0	0	1	0	0	0	9996	1174	41	1	31972	1	MUC16	19	9075567	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1456693	9075567	50053416	367	37027										
MUC16	94025	genome.wustl.edu	37	chr19	9090942	9090942	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtctctgatattttattatcGagaactgaagcagatgatga	9	5	1	6			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:9090942G>A	ENST00000397910.4	-	1	1076	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	291	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTATTATCGAGAACTGAAG	0.517																																																	0													128	127	128					19																	9090942		1978	4177	6155	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.873C>T	19.37:g.9090942G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L291	ENST00000397910.4	37	c.873	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9090942	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	A	A	9090942	G	A	9090942	2	1	193	1	0	0	0	0	0	0	0	1	9996	1045	37	1		1	MUC16	19	9090942	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	15375	9090942	50038041	368	37028										
ZNF439	90594	genome.wustl.edu	37	chr19	11978581	11978581	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcagtttatatcttatccatGaaagaactcacactggagag	7	8	3	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:11978581G>T	ENST00000304030.2	+	3	897	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	ZNF439_ENST00000455282.1_Nonsense_Mutation_p.E97*|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TCTTATCCATGAAAGAACTCA	0.373																																																	0													99	98	98					19																	11978581		2203	4300	6503	SO:0001587	stop_gained	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.697G>T	19.37:g.11978581G>T	ENSP00000305077:p.Glu233*		Q8IYZ7|Q96SU1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E233*	ENST00000304030.2	37	c.697	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	g	22.7	4.320357	0.81469	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	.	.	.	0.575	0.575	0.17374	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	2.9263	0.05785	0.3544:0.0:0.6456:0.0	.	.	.	.	X	97;233	.	ENSP00000305077:E233X	E	+	1	0	ZNF439	11839581	0.000000	0.05858	0.060000	0.19600	0.510000	0.34073	-0.237000	0.08990	0.577000	0.29470	0.194000	0.17425	GAA	ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	G			11978581	1	no_errors	ENST00000304030	ensembl	human	known	70_37	nonsense	SNP	0.537	T	T	11978581	G	T	11978581	4	4	193	1	0	0	0	0	0	1	0	0	17941	1291	45	3	707	3	ZNF439	19	11978581	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2887639	11978581	47150402	369	37029										
DHPS	1725	genome.wustl.edu	37	chr19	12792434	12792434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcttggaagccggtggtgccGaaggcctccagcagtgcgcg	17	12	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:12792434G>T	ENST00000210060.7	-	1	282	c.147C>A	c.(145-147)ttC>ttA	p.F49L	DHPS_ENST00000594424.1_5'Flank|DHPS_ENST00000599481.1_5'Flank|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000351660.5_Missense_Mutation_p.F49L	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CGGTGGTGCCGAAGGCCTCCA	0.632																																																	0													59	60	60					19																	12792434		2203	4300	6503	SO:0001583	missense	1725			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"migration-inducing gene 13"	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.147C>A	19.37:g.12792434G>T	ENSP00000210060:p.Phe49Leu		A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	p.F49L	ENST00000210060.7	37	c.147	CCDS12276.1	19	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223570	0.39300	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.53	3.38	0.38709	.	0.343803	0.32015	N	0.006708	T	0.28863	0.0716	L	0.33339	1.005	0.38094	D	0.937041	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.18871	0.023;0.002;0.002	T	0.10359	-1.0633	10	0.19590	T	0.45	-11.7203	9.2865	0.37760	0.0813:0.1556:0.7631:0.0	.	49;49;49	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	L	49	ENSP00000210060:F49L;ENSP00000221303:F49L	ENSP00000210060:F49L	F	-	3	2	DHPS	12653434	0.995000	0.38212	0.598000	0.28837	0.266000	0.26442	2.501000	0.45389	0.691000	0.31592	0.313000	0.20887	TTC	DHPS	-	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase		0.632	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHPS	HGNC	protein_coding	OTTHUMT00000462708.1	G	NM_001930		12792434	-1	no_errors	ENST00000210060	ensembl	human	known	70_37	missense	SNP	0.838	T	T	12792434	G	T	12792434	3	4	193	1	0	0	0	0	1	0	0	0	4495	1049	37	3	998	3	DHPS	19	12792434	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	813853	12792434	46336549	370	37030										
GLT25D1	79709	genome.wustl.edu	37	chr19	17690345	17690345	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttgaggatgacctgcgttttGagatcttcttcaagagacgt	11	7	3	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:17690345G>A	ENST00000252599.4	+	10	1441	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	441					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CCTGCGTTTTGAGATCTTCTT	0.602																																																	0													160	141	148					19																	17690345		2203	4300	6503	SO:0001583	missense	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1321G>A	19.37:g.17690345G>A	ENSP00000252599:p.Glu441Lys		Q8NC64	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.E441K	ENST00000252599.4	37	c.1321	CCDS12363.1	19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148996	0.78001	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.78246	-1.16	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.86851	0.6032	M	0.70595	2.14	0.80722	D	1	D;P	0.76494	0.999;0.871	D;P	0.75484	0.986;0.664	D	0.87035	0.2137	10	0.48119	T	0.1	-17.399	16.0272	0.80551	0.0:0.0:1.0:0.0	.	169;441	E9PC06;Q8NBJ5	.;GT251_HUMAN	K	169;441	ENSP00000252599:E441K	ENSP00000252599:E441K	E	+	1	0	GLT25D1	17551345	1.000000	0.71417	0.988000	0.46212	0.270000	0.26580	9.588000	0.98232	2.393000	0.81446	0.313000	0.20887	GAG	GLT25D1	-	pfam_Glyco_trans_25		0.602	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	G	NM_024656		17690345	1	no_errors	ENST00000252599	ensembl	human	known	70_37	missense	SNP	1.000	A	A	17690345	G	A	17690345	3	1	193	1	0	0	0	0	1	0	0	0	6485	1291	45	1	1359	1	GLT25D1	19	17690345	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4897911	17690345	41438638	371	37031										
UNC13A	23025	genome.wustl.edu	37	chr19	17756547	17756547	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcaatgatcgtctgccccagGaaatcgtcagattccctctt	7	13	4	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:17756547G>A	ENST00000519716.2	-	19	2291	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F	UNC13A_ENST00000552293.1_Silent_p.F764F|UNC13A_ENST00000550896.1_Silent_p.F762F|UNC13A_ENST00000551649.1_Silent_p.F764F|UNC13A_ENST00000252773.7_Silent_p.F764F|UNC13A_ENST00000428389.2_Silent_p.F852F	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	764	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCTGCCCCAGGAAATCGTCAG	0.582																																																	0													85	89	88					19																	17756547		2150	4268	6418	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2292C>T	19.37:g.17756547G>A			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.F852	ENST00000519716.2	37	c.2556	CCDS46013.2	19																																																																																			UNC13A	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.582	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	G	XM_038604		17756547	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	silent	SNP	1.000	A	A	17756547	G	A	17756547	2	1	193	1	0	0	0	0	0	0	0	1	17015	1165	41	1		1	UNC13A	19	17756547	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	66202	17756547	41372436	372	37032										
MAST3	23031	genome.wustl.edu	37	chr19	18254611	18254611	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctctggatcctcctgtcagtCatcttcgtcccagcccgagc	8	17	4	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18254611C>T	ENST00000262811.6	+	21	2291	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	764	Poly-Ser.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCCTGTCAGTCATCTTCGTCC	0.602																																																	0													34	37	36					19																	18254611		2039	4191	6230	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2291C>T	19.37:g.18254611C>T	ENSP00000262811:p.Ser764Leu		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S764L	ENST00000262811.6	37	c.2291	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783039	0.31593	.	.	ENSG00000099308	ENST00000262811	T	0.68181	-0.31	3.6	2.54	0.30619	.	0.297248	0.32231	N	0.006398	T	0.56426	0.1984	L	0.55017	1.72	0.09310	N	0.999999	B	0.32717	0.381	B	0.26969	0.075	T	0.51434	-0.8706	10	0.49607	T	0.09	-3.159	10.3728	0.44064	0.0:0.9011:0.0:0.0989	.	764	O60307	MAST3_HUMAN	L	764	ENSP00000262811:S764L	ENSP00000262811:S764L	S	+	2	0	MAST3	18115611	0.022000	0.18835	0.171000	0.22900	0.703000	0.40648	2.096000	0.41738	0.725000	0.32318	0.491000	0.48974	TCA	MAST3	-	NULL		0.602	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18254611	1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	0.254	T	T	18254611	C	T	18254611	3	4	193	1	0	0	0	0	1	0	0	0	9349	838	29	1	2373	1	MAST3	19	18254611	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	498064	18254611	40874372	373	37033										
MAST3	23031	genome.wustl.edu	37	chr19	18254622	18254622	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cctgtcagtcatcttcgtccCagcccgagcggggtcccagc	11	17	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18254622C>T	ENST00000262811.6	+	21	2302	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	768							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ATCTTCGTCCCAGCCCGAGCG	0.617																																																	0													34	37	36					19																	18254622		2019	4178	6197	SO:0001587	stop_gained	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2302C>T	19.37:g.18254622C>T	ENSP00000262811:p.Gln768*		Q7LDZ8|Q9UPI0	Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.Q768*	ENST00000262811.6	37	c.2302	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.580272	0.96565	.	.	ENSG00000099308	ENST00000262811	.	.	.	4.66	3.61	0.41365	.	0.454564	0.22616	N	0.057764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-32.3799	10.5797	0.45248	0.0:0.9064:0.0:0.0936	.	.	.	.	X	768	.	ENSP00000262811:Q768X	Q	+	1	0	MAST3	18115622	1.000000	0.71417	0.653000	0.29593	0.420000	0.31355	4.053000	0.57427	2.157000	0.67596	0.491000	0.48974	CAG	MAST3	-	NULL		0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18254622	1	no_errors	ENST00000262811	ensembl	human	known	70_37	nonsense	SNP	0.963	T	T	18254622	C	T	18254622	4	4	193	1	0	0	0	0	0	1	0	0	9349	595	21	4	2384	4	MAST3	19	18254622	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	11	18254622	40874361	374	37034										
MAST3	23031	genome.wustl.edu	37	chr19	18255851	18255851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccctcatgagccccctttccCcgcgctctctgtcctcgaac	6	21	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18255851C>T	ENST00000262811.6	+	23	2764	c.2764C>T	c.(2764-2766)Ccg>Tcg	p.P922S	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	922	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCCTTTCCCCGCGCTCTCT	0.687																																																	0													28	34	32					19																	18255851		1924	4122	6046	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2764C>T	19.37:g.18255851C>T	ENSP00000262811:p.Pro922Ser		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.P922S	ENST00000262811.6	37	c.2764	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230444	0.39399	.	.	ENSG00000099308	ENST00000262811	T	0.69806	-0.43	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.062472	0.64402	D	0.000004	T	0.59878	0.2226	L	0.49455	1.56	0.47245	D	0.999364	P	0.45474	0.859	B	0.37833	0.259	T	0.62680	-0.6803	10	0.33141	T	0.24	-20.477	16.6471	0.85179	0.0:1.0:0.0:0.0	.	922	O60307	MAST3_HUMAN	S	922	ENSP00000262811:P922S	ENSP00000262811:P922S	P	+	1	0	MAST3	18116851	0.997000	0.39634	1.000000	0.80357	0.557000	0.35523	3.616000	0.54174	2.178000	0.69098	0.313000	0.20887	CCG	MAST3	-	superfamily_PDZ		0.687	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18255851	1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18255851	C	T	18255851	3	4	193	1	0	0	0	0	1	0	0	0	9349	623	22	4	2854	4	MAST3	19	18255851	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1229	18255851	40873132	375	37035										
IFI30	10437	genome.wustl.edu	37	chr19	18288689	18288689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cggatgtctgcccttcctcaAccagctccctcaggagtgtt	9	15	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18288689A>G	ENST00000407280.3	+	7	896	c.721A>G	c.(721-723)Acc>Gcc	p.T241A	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	241					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CCCTTCCTCAACCAGCTCCCT	0.592																																																	0													43	46	45					19																	18288689		2002	4156	6158	SO:0001583	missense	10437			J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.721A>G	19.37:g.18288689A>G	ENSP00000384886:p.Thr241Ala		Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	pfam_Interferon-induced_GILT	p.T241A	ENST00000407280.3	37	c.721	CCDS46015.1	19	.	.	.	.	.	.	.	.	.	.	A	0.159	-1.083107	0.01888	.	.	ENSG00000216490	ENST00000407280	T	0.27557	1.66	3.23	-3.2	0.05156	.	.	.	.	.	T	0.06234	0.0161	N	0.00621	-1.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35126	-0.9801	9	0.06891	T	0.86	-34.8142	4.2146	0.10528	0.4927:0.1834:0.3239:0.0	.	241	P13284	GILT_HUMAN	A	241	ENSP00000384886:T241A	ENSP00000384886:T241A	T	+	1	0	IFI30	18149689	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.000000	0.12993	-0.537000	0.06290	-0.425000	0.05940	ACC	IFI30	-	NULL		0.592	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFI30	HGNC	protein_coding	OTTHUMT00000466396.3	A	NM_006332		18288689	1	no_errors	ENST00000407280	ensembl	human	known	70_37	missense	SNP	0.000	G	G	18288689	A	G	18288689	3	3	193	1	0	0	0	0	1	0	0	0	7535	43	2	5	747	5	IFI30	19	18288689	Missense_Mutation	SNP	A	TCGA-UC-A7PF-01A-11D-A351-09	32838	18288689	40840294	376	37036										
ELL	8178	genome.wustl.edu	37	chr19	18572604	18572604	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttgatgggggttgcccgcttCcgggagggcaccgcgtctgt	17	11	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18572604C>T	ENST00000262809.4	-	5	599	c.528G>A	c.(526-528)cgG>cgA	p.R176R	ELL_ENST00000596124.3_Silent_p.R43R	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	176					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TTGCCCGCTTCCGGGAGGGCA	0.622			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													68	70	69					19																	18572604		2203	4300	6503	SO:0001819	synonymous_variant	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.528G>A	19.37:g.18572604C>T		726		Silent	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R176	ENST00000262809.4	37	c.528	CCDS12380.1	19																																																																																			ELL	-	pfam_RNA_pol_II_elong_fac_ELL		0.622	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	C	NM_006532		18572604	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	silent	SNP	1.000	T	T	18572604	C	T	18572604	2	4	193	1	0	0	0	0	0	0	0	1	5074	842	30	1		1	ELL	19	18572604	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	283915	18572604	40556379	377	37037										
CRLF1	9244	genome.wustl.edu	37	chr19	18705208	18705208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccgagctcggctctccgcccCgcggttcgcacgccccgccg	12	22	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18705208C>T	ENST00000392386.3	-	7	1254	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	CRLF1_ENST00000594325.1_5'UTR	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	354					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTCTCCGCCCCGCGGTTCGCA	0.756																																																	0													8	8	8					19																	18705208		2169	4260	6429	SO:0001583	missense	9244			AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1061G>A	19.37:g.18705208C>T	ENSP00000376188:p.Arg354Gln		Q9UHH5	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R354Q	ENST00000392386.3	37	c.1061	CCDS32962.1	19	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919583	0.73098	.	.	ENSG00000006016	ENST00000392386	D	0.81579	-1.51	3.91	3.91	0.45181	.	0.130632	0.51477	D	0.000094	T	0.60508	0.2274	N	0.14661	0.345	0.31637	N	0.648261	B	0.25955	0.138	B	0.11329	0.006	T	0.59878	-0.7371	10	0.27082	T	0.32	-28.0209	7.3085	0.26461	0.0:0.8805:0.0:0.1195	.	354	O75462	CRLF1_HUMAN	Q	354	ENSP00000376188:R354Q	ENSP00000376188:R354Q	R	-	2	0	CRLF1	18566208	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.493000	0.60341	2.017000	0.59298	0.491000	0.48974	CGG	CRLF1	-	NULL		0.756	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF1	HGNC	protein_coding	OTTHUMT00000465129.1	C			18705208	-1	no_errors	ENST00000392386	ensembl	human	known	70_37	missense	SNP	1.000	T	T	18705208	C	T	18705208	3	4	193	1	0	0	0	0	1	0	0	0	3891	652	23	2	219	2	CRLF1	19	18705208	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	132604	18705208	40423775	378	37038										
NCAN	1463	genome.wustl.edu	37	chr19	19338264	19338264	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccccttggaggccactgtctCagctcccagccctgccccct	8	21	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:19338264C>T	ENST00000252575.6	+	8	1934	c.1835C>T	c.(1834-1836)tCa>tTa	p.S612L	NCAN_ENST00000538881.1_Missense_Mutation_p.S63L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	612					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCCACTGTCTCAGCTCCCAGC	0.647																																																	0													43	44	43					19																	19338264		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1835C>T	19.37:g.19338264C>T	ENSP00000252575:p.Ser612Leu		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.S612L	ENST00000252575.6	37	c.1835	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117895	0.20877	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86030	-1.87;-2.06	4.1	-7.77	0.01227	.	9.247330	0.00357	N	0.000023	T	0.60301	0.2258	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53878	-0.8376	10	0.25751	T	0.34	.	0.6127	0.00764	0.2479:0.2807:0.1239:0.3475	.	626;612	Q4LE67;O14594	.;NCAN_HUMAN	L	626;612;63	ENSP00000252575:S612L;ENSP00000442202:S63L	ENSP00000252575:S612L	S	+	2	0	NCAN	19199264	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.761000	0.04751	-1.065000	0.03168	-0.258000	0.10820	TCA	NCAN	-	NULL		0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	C	NM_004386		19338264	1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.000	T	T	19338264	C	T	19338264	3	4	193	1	0	0	0	0	1	0	0	0	10228	838	29	1	1861	1	NCAN	19	19338264	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	633056	19338264	39790719	379	37039										
ZNF14	7561	genome.wustl.edu	37	chr19	19822274	19822274	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctctccagtgtgagacctttCatgaattcgaacagaacttg	8	10	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:19822274C>T	ENST00000344099.3	-	4	1954	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGAGACCTTTCATGAATTCGA	0.408																																																	0													77	76	77					19																	19822274		2203	4300	6503	SO:0001583	missense	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1816G>A	19.37:g.19822274C>T	ENSP00000340514:p.Glu606Lys		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E606K	ENST00000344099.3	37	c.1816	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979443	0.53827	.	.	ENSG00000105708	ENST00000344099	T	0.07327	3.2	1.8	-1.32	0.09201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.02842	-0.48	0.21719	N	0.999578	D	0.55605	0.972	P	0.54100	0.742	T	0.43877	-0.9364	9	0.39692	T	0.17	.	8.6044	0.33764	0.0:0.3472:0.6528:0.0	.	606	P17017	ZNF14_HUMAN	K	606	ENSP00000340514:E606K	ENSP00000340514:E606K	E	-	1	0	ZNF14	19683274	0.000000	0.05858	0.004000	0.12327	0.992000	0.81027	-0.483000	0.06536	0.069000	0.16605	0.467000	0.42956	GAA	ZNF14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	C	NM_021030		19822274	-1	no_errors	ENST00000344099	ensembl	human	known	70_37	missense	SNP	0.927	T	T	19822274	C	T	19822274	3	4	193	1	0	0	0	0	1	0	0	0	17758	835	29	1	116	1	ZNF14	19	19822274	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	484010	19822274	39306709	380	37040										
ZNF493	284443	genome.wustl.edu	37	chr19	21606171	21606171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agttcatactggagagaaatCctacaaatatgaatgtggca	9	6	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:21606171C>T	ENST00000355504.4	+	2	592	c.326C>T	c.(325-327)tCc>tTc	p.S109F	ZNF493_ENST00000392288.2_Missense_Mutation_p.S237F|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GGAGAGAAATCCTACAAATAT	0.373																																																	0													38	41	40					19																	21606171		2199	4293	6492	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.326C>T	19.37:g.21606171C>T	ENSP00000347691:p.Ser109Phe		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S109F	ENST00000355504.4	37	c.326	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	9.499	1.102734	0.20632	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.36878	1.23;1.23	0.985	0.985	0.19779	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38825	0.1055	L	0.31526	0.94	0.80722	D	1	B;D	0.65815	0.019;0.995	B;P	0.61201	0.006;0.885	T	0.23547	-1.0185	9	0.87932	D	0	.	7.3463	0.26666	0.0:1.0:0.0:0.0	.	109;237	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	F	237;109	ENSP00000376110:S237F;ENSP00000347691:S109F	ENSP00000347691:S109F	S	+	2	0	ZNF493	21398011	0.000000	0.05858	0.063000	0.19743	0.062000	0.15995	0.825000	0.27393	0.399000	0.25367	0.404000	0.27445	TCC	ZNF493	-	pfscan_Znf_C2H2		0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	C	NM_175910		21606171	1	no_errors	ENST00000355504	ensembl	human	known	70_37	missense	SNP	0.825	T	T	21606171	C	T	21606171	3	4	193	1	0	0	0	0	1	0	0	0	17974	855	30	1	787	1	ZNF493	19	21606171	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1783897	21606171	37522812	381	37041										
NPHS1	4868	genome.wustl.edu	37	chr19	36339024	36339024	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgggtcccagcccggagcttCtggccctctgggggaccctc	14	17	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:36339024C>T	ENST00000378910.5	-	11	1358	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	NPHS1_ENST00000353632.6_Silent_p.Q453Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	453	Ig-like C2-type 5.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGGAGCTTCTGGCCCTCTG	0.627																																																	0													45	56	52					19																	36339024		2203	4300	6503	SO:0001819	synonymous_variant	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1359G>A	19.37:g.36339024C>T			A6NDH2|C3RX61	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q453	ENST00000378910.5	37	c.1359	CCDS32996.1	19																																																																																			NPHS1	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.627	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	C			36339024	-1	no_errors	ENST00000378910	ensembl	human	known	70_37	silent	SNP	0.070	T	T	36339024	C	T	36339024	2	4	193	1	0	0	0	0	0	0	0	1	10606	912	32	1		1	NPHS1	19	36339024	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	14732853	36339024	22789959	382	37042										
ZNF781	163115	genome.wustl.edu	37	chr19	38160922	38160922	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gggtaaggtgggcacgctttCtaaagggctttccacatatc	12	9	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:38160922C>G	ENST00000590008.1	-	5	980	c.128G>C	c.(127-129)aGa>aCa	p.R43T	ZNF781_ENST00000358582.4_Missense_Mutation_p.R43T|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GGCACGCTTTCTAAAGGGCTT	0.388																																																	0													179	174	176					19																	38160922		2203	4300	6503	SO:0001583	missense	163115			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.128G>C	19.37:g.38160922C>G	ENSP00000466370:p.Arg43Thr		Q2VPJ8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R43T	ENST00000590008.1	37	c.128	CCDS12507.1	19	.	.	.	.	.	.	.	.	.	.	C	3.399	-0.122650	0.06795	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.07800	3.16	2.58	-1.28	0.09318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	N	0.11154	0.105	0.09310	N	1	B	0.22003	0.063	B	0.36464	0.225	T	0.49588	-0.8924	9	0.34782	T	0.22	.	6.3317	0.21274	0.0:0.4045:0.0:0.5955	.	43	Q8N8C0	ZN781_HUMAN	T	43	ENSP00000351391:R43T	ENSP00000351391:R43T	R	-	2	0	ZNF781	42852762	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.420000	0.07062	-0.363000	0.08101	-0.495000	0.04643	AGA	ZNF781	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF781	HGNC	protein_coding	OTTHUMT00000459495.2	C	NM_152605		38160922	-1	no_errors	ENST00000358582	ensembl	human	known	70_37	missense	SNP	0.000	G	G	38160922	C	G	38160922	3	3	193	1	0	0	0	0	1	0	0	0	18184	913	32	1	859	1	ZNF781	19	38160922	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1821898	38160922	20968061	383	37043										
SIPA1L3	23094	genome.wustl.edu	37	chr19	38610012	38610012	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atccccagtggaaccacattCcgcaaatccgacgtcttcag	7	15	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:38610012C>T	ENST00000222345.6	+	9	2867	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	786	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAACCACATTCCGCAAATCCG	0.557																																																	0													79	85	83					19																	38610012		2203	4300	6503	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2358C>T	19.37:g.38610012C>T			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.F786	ENST00000222345.6	37	c.2358	CCDS33007.1	19																																																																																			SIPA1L3	-	pfam_Rap_GAP,pfscan_Rap_GAP		0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	C	XM_032278		38610012	1	no_errors	ENST00000222345	ensembl	human	known	70_37	silent	SNP	1.000	T	T	38610012	C	T	38610012	2	4	193	1	0	0	0	0	0	0	0	1	14361	854	30	1		1	SIPA1L3	19	38610012	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	449090	38610012	20518971	384	37044										
RYR1	6261	genome.wustl.edu	37	chr19	38973965	38973965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcagccgccatgttccaaagCgagcgcaagaacccggcccc	10	17	1	1	rs370041876	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:38973965C>T	ENST00000359596.3	+	33	4743	c.4743C>T	c.(4741-4743)agC>agT	p.S1581S	RYR1_ENST00000360985.3_Silent_p.S1581S|RYR1_ENST00000355481.4_Silent_p.S1581S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1581	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			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)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGTTCCAAAGCGAGCGCAAGA	0.627													C|||	4	0.000798722	0.0023	0	5008	,	,		16214	0		0	False		,,,				2504	0.001																0								C	,	3,4363		0,3,2180	15	12	13		4743,4743	-5.9	0.9	19		13	0,8540		0,0,4270	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,3,6450	TT,TC,CC		0.0,0.0687,0.0232	,	1581/5039,1581/5034	38973965	3,12903	2183	4270	6453	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4743C>T	19.37:g.38973965C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S1581	ENST00000359596.3	37	c.4743	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38973965	1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.906	T	T	38973965	C	T	38973965	2	4	193	1	0	0	0	0	0	0	0	1	13798	767	27	2		2	RYR1	19	38973965	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	363953	38973965	20155018	385	37045										
MAP4K1	11184	genome.wustl.edu	37	chr19	39100263	39100263	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtctgcatctgggatccccaGagagctggagcggtgggtgg	18	9	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:39100263G>A	ENST00000591517.1	-	13	1007	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	MAP4K1_ENST00000396857.2_Silent_p.L327L|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.L327L|MAP4K1_ENST00000589130.1_Silent_p.L323L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	327					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGATCCCCAGAGAGCTGGAG	0.587																																																	0													50	53	52					19																	39100263		1960	4167	6127	SO:0001819	synonymous_variant	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.979C>T	19.37:g.39100263G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L327	ENST00000591517.1	37	c.979	CCDS59385.1	19																																																																																			MAP4K1	-	superfamily_Kinase-like_dom		0.587	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	G	NM_001042600		39100263	-1	no_errors	ENST00000591517	ensembl	human	known	70_37	silent	SNP	0.801	A	A	39100263	G	A	39100263	2	1	193	1	0	0	0	0	0	0	0	1	9282	933	33	1		1	MAP4K1	19	39100263	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	126298	39100263	20028720	386	37046										
SHKBP1	92799	genome.wustl.edu	37	chr19	41094630	41094630	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccactcgcttcctttaagatCctggctctggagtcggcaga	10	13	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:41094630C>G	ENST00000291842.5	+	14	1486	c.1437C>G	c.(1435-1437)atC>atG	p.I479M	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.I454M	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	479					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTTAAGATCCTGGCTCTGG	0.617																																																	0													79	77	78					19																	41094630		2203	4300	6503	SO:0001583	missense	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1437C>G	19.37:g.41094630C>G	ENSP00000291842:p.Ile479Met		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.I479M	ENST00000291842.5	37	c.1437	CCDS12560.1	19	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486899	0.63962	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.49432	0.78	4.21	3.16	0.36331	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	L	0.59912	1.85	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.963;1.0;0.997;0.997;0.999;0.995	P;D;D;D;D;D	0.80764	0.827;0.988;0.994;0.994;0.994;0.986	T	0.64740	-0.6336	10	0.66056	D	0.02	-7.3254	12.3312	0.55041	0.1704:0.8296:0.0:0.0	.	357;259;402;316;479;479	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	M	479;259	ENSP00000291842:I479M	ENSP00000291842:I479M	I	+	3	3	SHKBP1	45786470	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	4.353000	0.59411	0.977000	0.38444	0.462000	0.41574	ATC	SHKBP1	-	superfamily_WD40_repeat_dom		0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	C	NM_138392		41094630	1	no_errors	ENST00000291842	ensembl	human	known	70_37	missense	SNP	1.000	G	G	41094630	C	G	41094630	3	3	193	1	0	0	0	0	1	0	0	0	14314	845	30	1	1491	1	SHKBP1	19	41094630	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1994367	41094630	18034353	387	37047										
BCKDHA	593	genome.wustl.edu	37	chr19	41916713	41916713	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agatcatcaaccccagcgagGacccccacgtgagaggcggc	12	15	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:41916713G>C	ENST00000269980.2	+	2	648	c.280G>C	c.(280-282)Gac>Cac	p.D94H	BCKDHA_ENST00000595085.1_Missense_Mutation_p.D128H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.D72H|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.D128H|CTC-435M10.3_ENST00000604424.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	94					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCCCAGCGAGGACCCCCACGT	0.607																																																	0													57	60	59					19																	41916713		2203	4300	6503	SO:0001583	missense	593			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.280G>C	19.37:g.41916713G>C	ENSP00000269980:p.Asp94His		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase_N	p.D128H	ENST00000269980.2	37	c.382	CCDS12581.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.178596|4.178596	0.78564|0.78564	.|.	.|.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098|ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196|ENST00000541315	D;D;D;D|.	0.99113|.	-5.44;-5.44;-5.43;-5.44|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70771|0.70771	0.3262|0.3262	L|L	0.53671|0.53671	1.685|1.685	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.89917|.	1.0;0.628;1.0;0.775|.	D;B;D;B|.	0.71414|.	0.973;0.078;0.951;0.291|.	T|T	0.67692|0.67692	-0.5605|-0.5605	10|5	0.66056|.	D|.	0.02|.	-28.9368|-28.9368	17.984|17.984	0.89151|0.89151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72;94;94;128|.	B4DP47;Q59EI3;P12694;F5H5P2|.	.;.;ODBA_HUMAN;.|.	H|S	128;94;94;72;94|29	ENSP00000443246:D128H;ENSP00000269980:D94H;ENSP00000440345:D94H;ENSP00000416000:D72H|.	ENSP00000269980:D94H|.	D|R	+|+	1|3	0|2	BCKDHA;CTC-435M10.3|BCKDHA	46608553|46608553	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.976000|0.976000	0.68499|0.68499	7.462000|7.462000	0.80851|0.80851	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GAC|AGG	BCKDHA	-	NULL		0.607	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	G	NM_000709		41916713	1	no_errors	ENST00000595085	ensembl	human	known	70_37	missense	SNP	1.000	C	C	41916713	G	C	41916713	3	2	193	1	0	0	0	0	1	0	0	0	1360	1174	41	1	286	1	BCKDHA	19	41916713	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	822083	41916713	17212270	388	37048										
IRGQ	126298	genome.wustl.edu	37	chr19	44097011	44097011	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gctctcgcccttgggattctCcatcttgccttctcccagac	7	17	4	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:44097011C>G	ENST00000602269.1	-	2	1224	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.E347Q|IRGQ_ENST00000601520.1_5'UTR			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	347	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TTGGGATTCTCCATCTTGCCT	0.592																																																	0													215	209	211					19																	44097011		2203	4300	6503	SO:0001583	missense	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1039G>C	19.37:g.44097011C>G	ENSP00000472250:p.Glu347Gln		B2RNP3	Missense_Mutation	SNP	NULL	p.E347Q	ENST00000602269.1	37	c.1039	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	6.480	0.456758	0.12283	.	.	ENSG00000167378	ENST00000422989	T	0.50813	0.73	4.05	2.99	0.34606	.	0.941536	0.08688	N	0.908456	T	0.35008	0.0917	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.15752	-1.0426	10	0.10636	T	0.68	.	12.2759	0.54735	0.0:0.828:0.172:0.0	.	347	Q8WZA9	IRGQ_HUMAN	Q	347	ENSP00000387535:E347Q	ENSP00000387535:E347Q	E	-	1	0	IRGQ	48788851	0.153000	0.22777	0.038000	0.18304	0.084000	0.17831	1.883000	0.39658	1.268000	0.44264	0.655000	0.94253	GAG	IRGQ	-	NULL		0.592	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	C	NM_001007561		44097011	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	missense	SNP	0.079	G	G	44097011	C	G	44097011	3	3	193	1	0	0	0	0	1	0	0	0	7859	864	30	1	836	1	IRGQ	19	44097011	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2180298	44097011	15031972	389	37049										
APOC1	341	genome.wustl.edu	37	chr19	45419568	45419568	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgcatcaaacagagtgaactTtctgccaagatgcggttaga	10	9	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:45419568T>C	ENST00000588750.1	+	4	505	c.180T>C	c.(178-180)ctT>ctC	p.L60L	APOC1_ENST00000252491.4_Silent_p.L60L|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000586638.1_Silent_p.L60L|APOC1_ENST00000588802.1_Silent_p.L60L|APOC1_ENST00000592885.1_Silent_p.L60L			P02654	APOC1_HUMAN	apolipoprotein C-I	60					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		AGAGTGAACTTTCTGCCAAGA	0.537																																																	0													92	83	86					19																	45419568		2203	4300	6503	SO:0001819	synonymous_variant	341			X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"Apolipoproteins"	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.180T>C	19.37:g.45419568T>C			B2R526|Q6IB97	Silent	SNP	pfam_ApoC-I	p.L60	ENST00000588750.1	37	c.180	CCDS12648.1	19																																																																																			APOC1	-	pfam_ApoC-I		0.537	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC1	HGNC	protein_coding	OTTHUMT00000453245.1	T			45419568	1	no_errors	ENST00000252491	ensembl	human	known	70_37	silent	SNP	0.000	C	C	45419568	T	C	45419568	2	2	193	1	0	0	0	0	0	0	0	1	797	1828	64	5		5	APOC1	19	45419568	Silent	SNP	T	TCGA-UC-A7PF-01A-11D-A351-09	1322557	45419568	13709415	390	37050										
ARHGAP35	2909	genome.wustl.edu	37	chr19	47425167	47425167	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cttctagcccctggctgcctCaggatgggtttgatccttct	10	13	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:47425167C>G	ENST00000404338.3	+	1	3235	c.3235C>G	c.(3235-3237)Cag>Gag	p.Q1079E		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1079					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.Q1079*(2)									CTGGCTGCCTCAGGATGGGTT	0.478																																																	2	Substitution - Nonsense(2)	urinary_tract(2)											42	41	41					19																	47425167		1971	4151	6122	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3235C>G	19.37:g.47425167C>G	ENSP00000385720:p.Gln1079Glu		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q1079E	ENST00000404338.3	37	c.3235	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878408	0.02550	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.06218	3.33	5.76	4.66	0.58398	.	0.509560	0.22575	N	0.058295	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34054	-0.9844	10	0.42905	T	0.14	-3.1737	5.7691	0.18243	0.1329:0.6408:0.1442:0.0821	.	1079	Q9NRY4-2	.	E	1079	ENSP00000385720:Q1079E	ENSP00000324820:Q1079E	Q	+	1	0	ARHGAP35	52117007	0.000000	0.05858	0.956000	0.39512	0.995000	0.86356	0.187000	0.16998	2.726000	0.93360	0.655000	0.94253	CAG	ARHGAP35	-	NULL		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	C	NM_004491		47425167	1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	0.047	G	G	47425167	C	G	47425167	3	3	193	1	0	0	0	0	1	0	0	0	6815	827	29	1	3237	1	ARHGAP35	19	47425167	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2005599	47425167	11703816	391	37051										
ACPT	93650	genome.wustl.edu	37	chr19	51298186	51298186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcctcccgcccatggggtctCctgccatggcccctatgagg	12	17	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:51298186C>T	ENST00000270593.1	+	10	1130	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	ACPT_ENST00000270594.3_Missense_Mutation_p.S284F|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	377						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATGGGGTCTCCTGCCATGGC	0.706																																																	0													42	53	49					19																	51298186		2203	4299	6502	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.1130C>T	19.37:g.51298186C>T	ENSP00000270593:p.Ser377Phe		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.S284F	ENST00000270593.1	37	c.851	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	c	14.20	2.464083	0.43736	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.76060	2.33;-0.99	4.56	2.34	0.29019	.	0.324515	0.25055	N	0.033497	T	0.50429	0.1615	N	0.08118	0	0.24224	N	0.995422	B	0.21309	0.054	B	0.15484	0.013	T	0.46275	-0.9203	10	0.87932	D	0	-11.1588	6.3406	0.21321	0.0:0.7093:0.1869:0.1038	.	377	Q9BZG2	PPAT_HUMAN	F	377;284	ENSP00000270593:S377F;ENSP00000270594:S284F	ENSP00000270593:S377F	S	+	2	0	ACPT	55989998	0.708000	0.27876	0.998000	0.56505	0.735000	0.41995	1.049000	0.30392	0.449000	0.26747	0.561000	0.74099	TCC	ACPT	-	NULL		0.706	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	C	NM_033068		51298186	1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	0.990	T	T	51298186	C	T	51298186	3	4	193	1	0	0	0	0	1	0	0	0	168	855	30	1	1168	1	ACPT	19	51298186	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3873019	51298186	7830797	392	37052										
CTU1	90353	genome.wustl.edu	37	chr19	51607718	51607718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gagcaccgtgtgcagcacctCggcctcgaaggcggcgcaga	15	14	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:51607718C>T	ENST00000421832.2	-	2	153	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_145232.3	NP_660275.2			cytosolic thiouridylase subunit 1											large_intestine(2)|lung(1)|urinary_tract(1)	4						TGCAGCACCTCGGCCTCGAAG	0.776																																																	0													1	1	1					19																	51607718		861	1830	2691	SO:0001583	missense	90353				CCDS12824.1	19q13.41	2013-05-31	2013-05-31	2009-08-19		ENSG00000142544			29590	protein-coding gene	gene with protein product		612694	"ATP binding domain 3", "cytosolic thiouridylase subunit 1 homolog (S. pombe)"	ATPBD3		19017811	Standard	NM_145232		Approved	MGC17332, NCS6	uc010eop.3	Q7Z7A3		ENST00000421832.2:c.109G>A	19.37:g.51607718C>T	ENSP00000390011:p.Glu37Lys			Missense_Mutation	SNP	pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA	p.E37K	ENST00000421832.2	37	c.109	CCDS12824.1	19	.	.	.	.	.	.	.	.	.	.	.	29.6	5.019269	0.93462	.	.	ENSG00000142544	ENST00000421832	T	0.24151	1.87	4.18	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.71581	2.175	0.58432	D	0.999999	B	0.25169	0.119	B	0.17979	0.02	T	0.06250	-1.0837	10	0.49607	T	0.09	-21.1236	9.6495	0.39888	0.0:0.8946:0.0:0.1054	.	37	Q7Z7A3	CTU1_HUMAN	K	37	ENSP00000390011:E37K	ENSP00000390011:E37K	E	-	1	0	CTU1	56299530	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.186000	0.58337	0.741000	0.32674	0.557000	0.71058	GAG	CTU1	-	pirsf_2-thiocytidine_tRNA_synth_TtcA		0.776	CTU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTU1	HGNC	protein_coding	OTTHUMT00000464292.1	C	NM_145232		51607718	-1	no_errors	ENST00000421832	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51607718	C	T	51607718	3	4	193	1	0	0	0	0	1	0	0	0	4052	893	31	1	945	1	CTU1	19	51607718	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	309532	51607718	7521265	393	37053										
SIGLEC12	89858	genome.wustl.edu	37	chr19	52001271	52001271	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tccagaccctcccctacccaCctgtgtactcgttttgcagg	7	17	0	1	rs374180089		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:52001271C>A	ENST00000291707.3	-	5	1461		c.e5+1		SIGLEC12_ENST00000598614.1_Splice_Site	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCCTACCCACCTGTGTACTC	0.577																																																	0													51	47	48					19																	52001271		2203	4300	6503	SO:0001630	splice_region_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1405+1G>T	19.37:g.52001271C>A			Q8IYH7	Splice_Site	SNP	-	e5+1	ENST00000291707.3	37	c.1405+1	CCDS12833.1	19	.	.	.	.	.	.	.	.	.	.	c	11.23	1.577380	0.28180	.	.	ENSG00000254521	ENST00000291707	.	.	.	1.39	0.0942	0.14480	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.334	0.11078	0.3905:0.6095:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC12	56693083	0.428000	0.25522	0.001000	0.08648	0.665000	0.39181	0.068000	0.14531	0.080000	0.16959	0.393000	0.25936	.	SIGLEC12	-	-		0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	C	NM_053003	Intron	52001271	-1	no_errors	ENST00000291707	ensembl	human	known	70_37	splice_site	SNP	0.001	A	A	52001271	C	A	52001271	5	1	193	1	0	0	0	0	0	0	1	0	14338	521	18	4	397	4	SIGLEC12	19	52001271	Splice_Site	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	393553	52001271	7127712	394	37054										
ZNF350	59348	genome.wustl.edu	37	chr19	52468865	52468865	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctctccggtatgtgttttctGatgtatgttgagccgtgatt	11	7	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:52468865G>A	ENST00000243644.4	-	5	1068	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	281					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGTGTTTTCTGATGTATGTTG	0.418																																																	0													119	113	115					19																	52468865		2203	4300	6503	SO:0001587	stop_gained	59348			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"Zinc fingers, C2H2-type", "-"	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.841C>T	19.37:g.52468865G>A	ENSP00000243644:p.Gln281*		Q96G73|Q9HAQ4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q281*	ENST00000243644.4	37	c.841	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550095	0.86127	.	.	ENSG00000256683	ENST00000243644	.	.	.	3.41	1.24	0.21308	.	0.470755	0.15951	N	0.236734	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.4488	0.21892	0.3293:0.0:0.6707:0.0	.	.	.	.	X	281	.	ENSP00000243644:Q281X	Q	-	1	0	ZNF350	57160677	0.006000	0.16342	0.009000	0.14445	0.780000	0.44128	1.121000	0.31283	0.174000	0.19809	0.591000	0.81541	CAG	ZNF350	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	G	NM_021632		52468865	-1	no_errors	ENST00000243644	ensembl	human	known	70_37	nonsense	SNP	0.004	A	A	52468865	G	A	52468865	4	1	193	1	0	0	0	0	0	1	0	0	17893	1299	45	1	761	1	ZNF350	19	52468865	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	467594	52468865	6660118	395	37055										
ZNF350	59348	genome.wustl.edu	37	chr19	52469366	52469366	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aaactgacttttgctgcaatGaacaatattttcaaatgcat	5	7	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:52469366G>A	ENST00000243644.4	-	5	567	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	114					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TTGCTGCAATGAACAATATTT	0.368																																																	0													73	76	75					19																	52469366		2203	4300	6503	SO:0001583	missense	59348			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"Zinc fingers, C2H2-type", "-"	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.340C>T	19.37:g.52469366G>A	ENSP00000243644:p.His114Tyr		Q96G73|Q9HAQ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H114Y	ENST00000243644.4	37	c.340	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	G	6.790	0.514787	0.12944	.	.	ENSG00000256683	ENST00000243644	T	0.05786	3.39	2.57	1.48	0.22813	.	0.464792	0.16047	N	0.232154	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	P	0.50943	0.94	B	0.41666	0.363	T	0.45702	-0.9243	10	0.33141	T	0.24	.	8.6182	0.33845	0.0:0.0:0.7698:0.2302	.	114	Q9GZX5	ZN350_HUMAN	Y	114	ENSP00000243644:H114Y	ENSP00000243644:H114Y	H	-	1	0	ZNF350	57161178	0.039000	0.19947	0.010000	0.14722	0.022000	0.10575	0.736000	0.26130	0.608000	0.30000	0.585000	0.79938	CAT	ZNF350	-	NULL		0.368	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	G	NM_021632		52469366	-1	no_errors	ENST00000243644	ensembl	human	known	70_37	missense	SNP	0.123	A	A	52469366	G	A	52469366	3	1	193	1	0	0	0	0	1	0	0	0	17893	1290	45	1	1262	1	ZNF350	19	52469366	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	501	52469366	6659617	396	37056										
ZNF761	388561	genome.wustl.edu	37	chr19	53958186	53958186	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tattaaagatcagcttggatCaagctttcattcgcatctgc	7	9	4	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:53958186C>T	ENST00000454407.1	+	0	878							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CAGCTTGGATCAAGCTTTCAT	0.383																																																	0													112	111	111					19																	53958186		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958186C>T			Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.383	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		C	NM_001008401		53958186	1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.047	T	T	53958186	C	T	53958186	1	4	193	0	1	0	0	0	0	0	0	0	18166	838	29	1		1	ZNF761	19	53958186	RNA	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1488820	53958186	5170797	397	37057										
NLRP11	204801	genome.wustl.edu	37	chr19	56321472	56321472	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atctcacccttgatccacctCaacacagccagatttataac	3	15	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:56321472C>T	ENST00000589093.1	-	3	597	c.504G>A	c.(502-504)ttG>ttA	p.L168L	NLRP11_ENST00000589824.2_Silent_p.L168L|NLRP11_ENST00000443188.1_Silent_p.L168L|NLRP11_ENST00000360133.3_Silent_p.L168L|NLRP11_ENST00000592953.1_Silent_p.L69L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	168	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGATCCACCTCAACACAGCCA	0.448																																																	0													126	111	116					19																	56321472		2203	4300	6503	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.504G>A	19.37:g.56321472C>T			C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L168	ENST00000589093.1	37	c.504	CCDS12935.1	19																																																																																			NLRP11	-	pfscan_NACHT_NTPase		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	C	NM_145007		56321472	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	silent	SNP	0.000	T	T	56321472	C	T	56321472	2	4	193	1	0	0	0	0	0	0	0	1	10497	825	29	1		1	NLRP11	19	56321472	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	2363286	56321472	2807511	398	37058										
NLRP13	126204	genome.wustl.edu	37	chr19	56436353	56436353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctgctgctgcttctagcatcTctagatcttcctgggttgga	10	11	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:56436353T>C	ENST00000342929.3	-	2	367	c.368A>G	c.(367-369)gAg>gGg	p.E123G	NLRP13_ENST00000588751.1_Missense_Mutation_p.E123G	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	123							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCTAGCATCTCTAGATCTTC	0.458																																																	0													184	135	152					19																	56436353		2203	4300	6503	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.368A>G	19.37:g.56436353T>C	ENSP00000343891:p.Glu123Gly		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E123G	ENST00000342929.3	37	c.368	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	T	2.901	-0.227406	0.06022	.	.	ENSG00000173572	ENST00000342929	T	0.73258	-0.73	1.65	1.65	0.23941	.	.	.	.	.	T	0.48241	0.1489	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.29397	-1.0013	9	0.29301	T	0.29	.	5.3791	0.16181	0.0:0.0:0.0:1.0	.	123	Q86W25	NAL13_HUMAN	G	123	ENSP00000343891:E123G	ENSP00000343891:E123G	E	-	2	0	NLRP13	61128165	0.006000	0.16342	0.007000	0.13788	0.002000	0.02628	0.006000	0.13152	1.037000	0.40024	0.397000	0.26171	GAG	NLRP13	-	NULL		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	T	NM_176810		56436353	-1	no_errors	ENST00000342929	ensembl	human	known	70_37	missense	SNP	0.007	C	C	56436353	T	C	56436353	3	2	193	1	0	0	0	0	1	0	0	0	10499	1551	54	5	2801	5	NLRP13	19	56436353	Missense_Mutation	SNP	T	TCGA-UC-A7PF-01A-11D-A351-09	114881	56436353	2692630	399	37059										
ZNF71	58491	genome.wustl.edu	37	chr19	57133912	57133912	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggcgagtgcggcaaggccttCagccagagcgcctacctcat	13	14	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:57133912C>T	ENST00000328070.6	+	3	1491	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCAAGGCCTTCAGCCAGAGCG	0.637																																																	0													84	71	75					19																	57133912		2203	4300	6503	SO:0001819	synonymous_variant	58491			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1257C>T	19.37:g.57133912C>T			Q15919|Q9UC09|Q9UQD3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F419	ENST00000328070.6	37	c.1257	CCDS12947.1	19																																																																																			ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	C	NM_021216		57133912	1	no_errors	ENST00000328070	ensembl	human	known	70_37	silent	SNP	0.971	T	T	57133912	C	T	57133912	2	4	193	1	0	0	0	0	0	0	0	1	18144	825	29	1		1	ZNF71	19	57133912	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	697559	57133912	1995071	400	37060										
SIRPG	55423	genome.wustl.edu	37	chr20	1615977	1615977	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tctagggcaaggcgtttgctGaccgccagctgcccatcatg	12	13	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:1615977G>A	ENST00000303415.3	-	4	1081	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V	SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000381580.1_Silent_p.V306V|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	339	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGCGTTTGCTGACCGCCAGCT	0.498																																																	0													114	93	100					20																	1615977		2203	4300	6503	SO:0001819	synonymous_variant	55423			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1017C>T	20.37:g.1615977G>A			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.V339	ENST00000303415.3	37	c.1017	CCDS13020.2	20																																																																																			SIRPG	-	smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like		0.498	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	G	NM_018556		1615977	-1	no_errors	ENST00000303415	ensembl	human	known	70_37	silent	SNP	0.022	A	A	1615977	G	A	1615977	2	1	193	1	0	0	0	0	0	0	0	1	14366	1277	45	1		1	SIRPG	20	1615977	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		1615977	61409543	401	37061										
ATRN	8455	genome.wustl.edu	37	chr20	3605170	3605170	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgtcacagattgccttctctCagcacagcaattttatggac	7	11	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:3605170C>T	ENST00000262919.5	+	25	3882	c.3814C>T	c.(3814-3816)Cag>Tag	p.Q1272*		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1272					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCCTTCTCTCAGCACAGCAA	0.403																																																	0													307	269	282					20																	3605170		2203	4300	6503	SO:0001587	stop_gained	8455			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3814C>T	20.37:g.3605170C>T	ENSP00000262919:p.Gln1272*		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.Q1272*	ENST00000262919.5	37	c.3814	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	C	43	10.002259	0.99314	.	.	ENSG00000088812	ENST00000262919	.	.	.	5.37	4.43	0.53597	.	0.056763	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.7056	11.2771	0.49174	0.0:0.9138:0.0:0.0862	.	.	.	.	X	1272	.	ENSP00000262919:Q1272X	Q	+	1	0	ATRN	3553170	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.943000	0.75934	1.269000	0.44280	0.655000	0.94253	CAG	ATRN	-	NULL		0.403	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	C	NM_139321		3605170	1	no_errors	ENST00000262919	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	3605170	C	T	3605170	4	4	193	1	0	0	0	0	0	1	0	0	1207	827	29	1	3934	1	ATRN	20	3605170	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1989193	3605170	59420350	402	37062										
PRND	23627	genome.wustl.edu	37	chr20	4705593	4705593	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	aagctccaccagcaggtgctCtggcggctggtccaggagct	14	13	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:4705593C>G	ENST00000305817.2	+	2	467	c.396C>G	c.(394-396)ctC>ctG	p.L132L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	132	Globular.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AGCAGGTGCTCTGGCGGCTGG	0.612																																																	0													41	44	43					20																	4705593		2203	4300	6503	SO:0001819	synonymous_variant	23627			AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"prion-like protein doppel"	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.396C>G	20.37:g.4705593C>G			A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom	p.L132	ENST00000305817.2	37	c.396	CCDS13081.1	20																																																																																			PRND	-	pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom		0.612	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRND	HGNC	protein_coding	OTTHUMT00000077827.2	C	NM_012409		4705593	1	no_errors	ENST00000305817	ensembl	human	known	70_37	silent	SNP	0.324	G	G	4705593	C	G	4705593	2	3	193	1	0	0	0	0	0	0	0	1	12570	900	32	1		1	PRND	20	4705593	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1100423	4705593	58319927	403	37063										
RASSF2	9770	genome.wustl.edu	37	chr20	4770300	4770300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tggtcatggtgctgttgatgCggacgttggtgacagagcca	16	7	1	3	rs369276882		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:4770300C>T	ENST00000379400.3	-	8	776	c.581G>A	c.(580-582)cGc>cAc	p.R194H	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194H	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547																																					Melanoma(158;1891 3343 50738)												3	Substitution - Missense(3)	lung(2)|ovary(1)						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	160	139	146		581,581	5	1	20		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RASSF2	NM_014737.2,NM_170774.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	194/327,194/327	4770300	1,13005	2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.581G>A	20.37:g.4770300C>T	ENSP00000368710:p.Arg194His		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.R194H	ENST00000379400.3	37	c.581	CCDS13083.1	20	.	.	.	.	.	.	.	.	.	.	C	31	5.096093	0.94197	0.0	1.16E-4	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.18016	2.24;2.24	5.04	5.04	0.67666	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01972	-1.1237	10	0.15952	T	0.53	.	17.1313	0.86727	0.0:1.0:0.0:0.0	.	194	P50749	RASF2_HUMAN	H	194	ENSP00000368710:R194H;ENSP00000368684:R194H	ENSP00000368684:R194H	R	-	2	0	RASSF2	4718300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.604000	0.82830	2.622000	0.88805	0.655000	0.94253	CGC	RASSF2	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.547	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	C	NM_014737		4770300	-1	no_errors	ENST00000379376	ensembl	human	known	70_37	missense	SNP	1.000	T	T	4770300	C	T	4770300	3	4	193	1	0	0	0	0	1	0	0	0	13116	768	27	2	419	2	RASSF2	20	4770300	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	64707	4770300	58255220	404	37064										
PAX1	5075	genome.wustl.edu	37	chr20	21695220	21695220	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggggcagctctccccggaccCgagcccggagggaacggcag	17	15	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:21695220C>A	ENST00000398485.2	+	5	1438	c.1384C>A	c.(1384-1386)Cga>Aga	p.R462R	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	462					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCCCCGGACCCGAGCCCGGAG	0.731																																																	0													6	7	7					20																	21695220		2159	4231	6390	SO:0001819	synonymous_variant	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1384C>A	20.37:g.21695220C>A			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.R462	ENST00000398485.2	37	c.1384	CCDS13146.2	20																																																																																			PAX1	-	NULL		0.731	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	C			21695220	1	no_errors	ENST00000398485	ensembl	human	known	70_37	silent	SNP	0.000	A	A	21695220	C	A	21695220	2	1	193	1	0	0	0	0	0	0	0	1	11502	644	23	2		2	PAX1	20	21695220	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	16924920	21695220	41330300	405	37065										
C20orf152	140894	genome.wustl.edu	37	chr20	34575384	34575384	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tggtagccatggcgaagataGagaggttctcgtatgggcag	16	6	1	2	rs142929392	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:34575384G>C	ENST00000373973.3	+	7	957	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	CNBD2_ENST00000349339.1_Missense_Mutation_p.E262Q|CNBD2_ENST00000538900.1_Missense_Mutation_p.E262Q			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	262																	GGCGAAGATAGAGAGGTTCTC	0.483																																																	0													103	87	92					20																	34575384		2203	4300	6503	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.784G>C	20.37:g.34575384G>C	ENSP00000363084:p.Glu262Gln		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E262Q	ENST00000373973.3	37	c.784		20	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156649	0.57259	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.43294	0.95;0.95;0.95	5.14	5.14	0.70334	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.079724	0.51477	D	0.000092	T	0.62073	0.2398	M	0.75264	2.295	0.29394	N	0.86244	D;D	0.89917	0.968;1.0	P;D	0.85130	0.898;0.997	T	0.58216	-0.7675	10	0.25751	T	0.34	-20.9815	13.9866	0.64339	0.0:0.0:1.0:0.0	.	262;262	Q96M20;Q96M20-2	CT152_HUMAN;.	Q	262	ENSP00000363084:E262Q;ENSP00000340954:E262Q;ENSP00000442729:E262Q	ENSP00000340954:E262Q	E	+	1	0	C20orf152	34038798	0.999000	0.42202	0.299000	0.25016	0.100000	0.18952	3.690000	0.54713	2.677000	0.91161	0.655000	0.94253	GAG	CNBD2	-	superfamily_cNMP-bd-like		0.483	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834		34575384	1	no_errors	ENST00000373973	ensembl	human	known	70_37	missense	SNP	0.824	C	C	34575384	G	C	34575384	3	2	193	1	0	0	0	0	1	0	0	0	2097	943	33	1	810	1	C20orf152	20	34575384	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	12880164	34575384	28450136	406	37066										
ZSWIM3	140831	genome.wustl.edu	37	chr20	44506550	44506550	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cggccggcaagcatgccactGaagtccaagaaggcttttgg	13	11	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:44506550G>A	ENST00000255152.2	+	2	1562	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L	ZSWIM3_ENST00000454862.2_Silent_p.L445L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	451							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GCATGCCACTGAAGTCCAAGA	0.507																																																	0													38	40	39					20																	44506550		2203	4300	6503	SO:0001819	synonymous_variant	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1353G>A	20.37:g.44506550G>A			Q9BR13	Silent	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.L451	ENST00000255152.2	37	c.1353	CCDS13381.1	20																																																																																			ZSWIM3	-	NULL		0.507	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	G	NM_080752		44506550	1	no_errors	ENST00000255152	ensembl	human	known	70_37	silent	SNP	0.000	A	A	44506550	G	A	44506550	2	1	193	1	0	0	0	0	0	0	0	1	18272	1277	45	1		1	ZSWIM3	20	44506550	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	9931166	44506550	18518970	407	37067										
ZBP1	81030	genome.wustl.edu	37	chr20	56191472	56191472	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttcaccagctgggcaagtttCaccggggagccagcctctgt	12	13	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:56191472C>T	ENST00000371173.3	-	2	264	c.87G>A	c.(85-87)gtG>gtA	p.V29V	ZBP1_ENST00000541799.1_Silent_p.V29V|ZBP1_ENST00000343535.4_Silent_p.V29V|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000340462.4_Silent_p.V29V	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	29					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGGCAAGTTTCACCGGGGAGC	0.577																																																	0													99	97	98					20																	56191472		2203	4300	6503	SO:0001819	synonymous_variant	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.87G>A	20.37:g.56191472C>T			A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase	p.V29	ENST00000371173.3	37	c.87	CCDS13461.1	20																																																																																			ZBP1	-	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase		0.577	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	HGNC	protein_coding	OTTHUMT00000079849.1	C	NM_030776		56191472	-1	no_errors	ENST00000343535	ensembl	human	known	70_37	silent	SNP	0.018	T	T	56191472	C	T	56191472	2	4	193	1	0	0	0	0	0	0	0	1	17551	813	29	1		1	ZBP1	20	56191472	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	11684922	56191472	6834048	408	37068										
GNAS	2778	genome.wustl.edu	37	chr20	57415168	57415168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgtgcctaagaggatggatCggaggtcccgggctcagcag	17	9	1	1	rs202131370		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:57415168C>T	ENST00000313949.7	+	1	396	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R3W|GNAS_ENST00000371098.2_Missense_Mutation_p.R3W			P63092	GNAS2_HUMAN	GNAS complex locus	0				C -> Y (in Ref. 8; AAH66923). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGGATGGATCGGAGGTCCCG	0.657			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													30	38	35					20																	57415168		2191	4266	6457	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.7C>T	20.37:g.57415168C>T	ENSP00000323571:p.Arg3Trp		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_NESP55	p.R3W	ENST00000313949.7	37	c.7	CCDS13471.1	20	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113027	0.56398	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075	.	.	.	3.75	3.75	0.43078	.	.	.	.	.	T	0.61324	0.2338	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64609	-0.6367	8	0.87932	D	0	.	11.3582	0.49627	0.0:1.0:0.0:0.0	.	3	O95467	GNAS3_HUMAN	W	3	.	ENSP00000323571:R3W	R	+	1	2	GNAS	56848563	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	2.952000	0.49097	2.406000	0.81754	0.484000	0.47621	CGG	GNAS	-	pfam_NESP55		0.657	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080418.7	C	NM_000516		57415168	1	no_errors	ENST00000313949	ensembl	human	known	70_37	missense	SNP	0.996	T	T	57415168	C	T	57415168	3	4	193	1	0	0	0	0	1	0	0	0	6529	875	31	1	9	1	GNAS	20	57415168	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1223696	57415168	5610352	409	37069										
RTEL1	51750	genome.wustl.edu	37	chr20	62320895	62320895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctcagacacgaatggccgtgGtgtgattgtcacgggcctcc	13	12	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:62320895G>T	ENST00000360203.5	+	23	2244	c.1919G>T	c.(1918-1920)gGt>gTt	p.G640V	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.G640V|RTEL1_ENST00000370003.1_5'Flank|RTEL1_ENST00000318100.4_Missense_Mutation_p.G640V|RTEL1_ENST00000508582.2_Missense_Mutation_p.G664V|RTEL1_ENST00000370018.3_Missense_Mutation_p.G640V					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AATGGCCGTGGTGTGATTGTC	0.667																																																	0													43	38	40					20																	62320895		2194	4287	6481	SO:0001583	missense	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1919G>T	20.37:g.62320895G>T	ENSP00000353332:p.Gly640Val			Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.G640V	ENST00000360203.5	37	c.1919		20	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221077	0.58560	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	4.76	4.76	0.60689	Helicase, ATP-dependent, c2 type (1);	0.055425	0.64402	D	0.000001	T	0.80465	0.4628	M	0.66506	2.035	0.80722	D	1	D;D;P	0.71674	0.998;0.988;0.864	D;D;P	0.76575	0.988;0.933;0.79	T	0.81906	-0.0718	10	0.56958	D	0.05	-17.5546	17.5347	0.87825	0.0:0.0:1.0:0.0	.	664;640;640	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	V	640;640;664;640	ENSP00000359035:G640V;ENSP00000322287:G640V;ENSP00000424307:G664V;ENSP00000353332:G640V	ENSP00000353332:G640V	G	+	2	0	AL353715.1	61791339	1.000000	0.71417	0.566000	0.28421	0.592000	0.36648	5.019000	0.64060	2.473000	0.83533	0.563000	0.77884	GGT	RTEL1	-	smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3		0.667	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	G	NM_032957		62320895	1	no_errors	ENST00000318100	ensembl	human	known	70_37	missense	SNP	0.846	T	T	62320895	G	T	62320895	3	4	193	1	0	0	0	0	1	0	0	0	13750	1261	44	4	2005	4	RTEL1	20	62320895	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4905727	62320895	704625	410	37070										
TMPRSS15	5651	genome.wustl.edu	37	chr21	19701525	19701525	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttcttcaccatctcttatttCaactacatcgttaatatttt	1	10	4	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:19701525C>G	ENST00000284885.3	-	15	1774	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	581	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCTCTTATTTCAACTACATCG	0.313																																																	0													99	95	96					21																	19701525		2203	4299	6502	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1741G>C	21.37:g.19701525C>G	ENSP00000284885:p.Glu581Gln		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E581Q	ENST00000284885.3	37	c.1741	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929029	0.73327	.	.	ENSG00000154646	ENST00000284885	T	0.22134	1.97	5.53	5.53	0.82687	CUB (5);	0.129401	0.50627	D	0.000119	T	0.46852	0.1414	M	0.72894	2.215	0.50632	D	0.999889	D	0.89917	1.0	D	0.79784	0.993	T	0.25813	-1.0121	9	.	.	.	.	17.3132	0.87215	0.0:1.0:0.0:0.0	.	581	P98073	ENTK_HUMAN	Q	581	ENSP00000284885:E581Q	.	E	-	1	0	TMPRSS15	18623396	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.609000	0.67661	2.758000	0.94735	0.655000	0.94253	GAA	TMPRSS15	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.313	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	C	NM_002772		19701525	-1	no_errors	ENST00000284885	ensembl	human	known	70_37	missense	SNP	1.000	G	G	19701525	C	G	19701525	3	3	193	1	0	0	0	0	1	0	0	0	16276	835	29	1	1362	1	TMPRSS15	21	19701525	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09		19701525	28428370	411	37071										
ADAMTS1	9510	genome.wustl.edu	37	chr21	28210520	28210520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaaagctgccattgttcctgGatcccctctggttccgctgt	10	13	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:28210520G>A	ENST00000284984.3	-	9	2736	c.2282C>T	c.(2281-2283)tCc>tTc	p.S761F		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	761	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATTGTTCCTGGATCCCCTCTG	0.448																																																	0													93	73	80					21																	28210520		2202	4300	6502	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2282C>T	21.37:g.28210520G>A	ENSP00000284984:p.Ser761Phe		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.S761F	ENST00000284984.3	37	c.2282	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176830	0.57692	.	.	ENSG00000154734	ENST00000284984	T	0.63255	-0.03	5.65	5.65	0.86999	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.71871	0.3391	M	0.64997	1.995	0.45261	D	0.998267	P	0.45126	0.851	P	0.50860	0.652	T	0.70676	-0.4806	9	0.49607	T	0.09	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	761	Q9UHI8	ATS1_HUMAN	F	761	ENSP00000284984:S761F	ENSP00000284984:S761F	S	-	2	0	ADAMTS1	27132391	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	6.791000	0.75120	2.941000	0.99782	0.655000	0.94253	TCC	ADAMTS1	-	pfam_ADAM_spacer1		0.448	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	G			28210520	-1	no_errors	ENST00000284984	ensembl	human	known	70_37	missense	SNP	1.000	A	A	28210520	G	A	28210520	3	1	193	1	0	0	0	0	1	0	0	0	255	1174	41	1	625	1	ADAMTS1	21	28210520	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	8508995	28210520	19919375	412	37072										
KRTAP10-3	386682	genome.wustl.edu	37	chr21	45978470	45978470	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	actggggtgcagaccagggtCaggcagggggccggggcgca	21	10	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:45978470C>T	ENST00000391620.1	-	1	173	c.129G>A	c.(127-129)ctG>ctA	p.L43L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	43	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						AGACCAGGGTCAGGCAGGGGG	0.711																																																	0													25	27	26					21																	45978470		2131	4225	6356	SO:0001819	synonymous_variant	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.129G>A	21.37:g.45978470C>T			A3KN67|Q70LJ4	Silent	SNP	NULL	p.L43	ENST00000391620.1	37	c.129	CCDS42956.1	21																																																																																			KRTAP10-3	-	NULL		0.711	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-3	HGNC	protein_coding	OTTHUMT00000128031.1	C			45978470	-1	no_errors	ENST00000391620	ensembl	human	known	70_37	silent	SNP	0.203	T	T	45978470	C	T	45978470	2	4	193	1	0	0	0	0	0	0	0	1	8530	813	29	1		1	KRTAP10-3	21	45978470	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	17767950	45978470	2151425	413	37073										
COL18A1	80781	genome.wustl.edu	37	chr21	46875882	46875882	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gcggaaaccctggtcctggaGactcctgtgggcccccttgc	13	15	0	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:46875882G>A	ENST00000359759.4	+	1	459	c.438G>A	c.(436-438)gaG>gaA	p.E146E	COL18A1_ENST00000355480.5_Silent_p.E146E|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	146					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGTCCTGGAGACTCCTGTGG	0.647																																																	0													30	35	33					21																	46875882		1981	4124	6105	SO:0001819	synonymous_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.438G>A	21.37:g.46875882G>A			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.E146	ENST00000359759.4	37	c.438		21																																																																																			COL18A1	-	pfam_DUF959_COL18_N		0.647	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46875882	1	no_errors	ENST00000359759	ensembl	human	known	70_37	silent	SNP	0.000	A	A	46875882	G	A	46875882	2	1	193	1	0	0	0	0	0	0	0	1	3680	933	33	1		1	COL18A1	21	46875882	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	897412	46875882	1254013	414	37074										
COL18A1	80781	genome.wustl.edu	37	chr21	46925096	46925096	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	agcccggcccacctggacctCagggaccccccggcatcggc	12	20	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:46925096C>T	ENST00000359759.4	+	34	4183	c.4162C>T	c.(4162-4164)Cag>Tag	p.Q1388*	COL18A1_ENST00000355480.5_Nonsense_Mutation_p.Q1153*|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Nonsense_Mutation_p.Q973*			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1388	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACCTGGACCTCAGGGACCCCC	0.711																																																	0													7	10	9					21																	46925096		1702	3937	5639	SO:0001587	stop_gained	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4162C>T	21.37:g.46925096C>T	ENSP00000352798:p.Gln1388*		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Nonsense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.Q1388*	ENST00000359759.4	37	c.4162		21	.	.	.	.	.	.	.	.	.	.	C	45	11.781998	0.99602	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	.	.	.	3.95	3.95	0.45737	.	0.229658	0.37669	N	0.001991	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	15.4345	0.75133	0.0:1.0:0.0:0.0	.	.	.	.	X	973;973;1153;1388;1388;320	.	ENSP00000339118:Q320X	Q	+	1	0	COL18A1	45749524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.315000	0.51951	2.138000	0.66242	0.555000	0.69702	CAG	COL18A1	-	NULL		0.711	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	C			46925096	1	no_errors	ENST00000359759	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	46925096	C	T	46925096	4	4	193	1	0	0	0	0	0	1	0	0	3680	827	29	1	4405	1	COL18A1	21	46925096	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	49214	46925096	1204799	415	37075										
PCNT	5116	genome.wustl.edu	37	chr21	47836346	47836346	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	attgggattccttgataccaGatgaaatgccagattctccc	8	10	1	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:47836346G>C	ENST00000359568.5	+	30	6621	c.6514G>C	c.(6514-6516)Gat>Cat	p.D2172H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2172					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTGATACCAGATGAAATGCC	0.458																																																	0													97	111	106					21																	47836346		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6514G>C	21.37:g.47836346G>C	ENSP00000352572:p.Asp2172His		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.D2172H	ENST00000359568.5	37	c.6514	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707665	0.30322	.	.	ENSG00000160299	ENST00000359568	T	0.01505	4.82	4.35	-1.3	0.09259	.	1.050420	0.07614	N	0.925902	T	0.01905	0.0060	L	0.36672	1.1	0.09310	N	1	P;P	0.45902	0.699;0.868	B;B	0.42827	0.35;0.399	T	0.45220	-0.9276	10	0.42905	T	0.14	.	4.3337	0.11076	0.5118:0.1719:0.3163:0.0	.	2054;2172	O95613-2;O95613	.;PCNT_HUMAN	H	2172	ENSP00000352572:D2172H	ENSP00000352572:D2172H	D	+	1	0	PCNT	46660774	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.020000	0.13466	-0.308000	0.08792	-0.302000	0.09304	GAT	PCNT	-	NULL		0.458	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47836346	1	no_errors	ENST00000359568	ensembl	human	known	70_37	missense	SNP	0.000	C	C	47836346	G	C	47836346	3	2	193	1	0	0	0	0	1	0	0	0	11614	942	33	1	6632	1	PCNT	21	47836346	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	911250	47836346	293549	416	37076										
SERPIND1	3053	genome.wustl.edu	37	chr22	21134114	21134114	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tttccttaggtctgaagggaGagacccatgaacaagtgcac	11	9	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:21134114G>C	ENST00000215727.5	+	2	797	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E172Q	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	172					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TCTGAAGGGAGAGACCCATGA	0.433																																																	0													111	105	107					22																	21134114		2203	4300	6503	SO:0001583	missense	3053			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.514G>C	22.37:g.21134114G>C	ENSP00000215727:p.Glu172Gln		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.E172Q	ENST00000215727.5	37	c.514	CCDS13783.1	22	.	.	.	.	.	.	.	.	.	.	G	8.893	0.954384	0.18431	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.88354	-2.37;-2.37	5.81	2.52	0.30459	Serpin domain (3);	0.801478	0.12703	N	0.446162	T	0.77445	0.4131	N	0.13198	0.31	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.12156	0.007;0.007	T	0.61407	-0.7069	10	0.19590	T	0.45	.	8.7987	0.34896	0.1369:0.3402:0.5229:0.0	.	172;172	Q8IVC0;P05546	.;HEP2_HUMAN	Q	172	ENSP00000215727:E172Q;ENSP00000384050:E172Q	ENSP00000215727:E172Q	E	+	1	0	SERPIND1	19464114	0.000000	0.05858	0.401000	0.26359	0.949000	0.60115	0.528000	0.23002	0.784000	0.33661	0.650000	0.86243	GAG	SERPIND1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPIND1	HGNC	protein_coding	OTTHUMT00000319961.1	G	NM_000185		21134114	1	no_errors	ENST00000215727	ensembl	human	known	70_37	missense	SNP	0.002	C	C	21134114	G	C	21134114	3	2	193	1	0	0	0	0	1	0	0	0	14140	943	33	1	516	1	SERPIND1	22	21134114	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		21134114	30170452	417	37077										
BCR	613	genome.wustl.edu	37	chr22	23637246	23637246	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctggagggctcccagaccctGaggatactgtgctatgaaaa	12	10	0	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:23637246G>A	ENST00000305877.8	+	16	3667	c.2916G>A	c.(2914-2916)ctG>ctA	p.L972L	BCR_ENST00000359540.3_Intron	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	972	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCCAGACCCTGAGGATACTGT	0.542			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													112	102	105					22																	23637246		2203	4300	6503	SO:0001819	synonymous_variant	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2916G>A	22.37:g.23637246G>A			P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.L972	ENST00000305877.8	37	c.2916	CCDS13806.1	22																																																																																			BCR	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.542	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	G	NM_004327		23637246	1	no_errors	ENST00000305877	ensembl	human	known	70_37	silent	SNP	1.000	A	A	23637246	G	A	23637246	2	1	193	1	0	0	0	0	0	0	0	1	1389	1277	45	1		1	BCR	22	23637246	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2503132	23637246	27667320	418	37078										
MN1	4330	genome.wustl.edu	37	chr22	28147025	28147025	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtctgtgcagtggacagacaGgcactgcaagtggctgccag	15	10	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:28147025G>C	ENST00000302326.4	-	2	4795	c.3841C>G	c.(3841-3843)Ctg>Gtg	p.L1281V	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1281					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGGACAGACAGGCACTGCAAG	0.602			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													62	70	67					22																	28147025		2105	4225	6330	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3841C>G	22.37:g.28147025G>C	ENSP00000304956:p.Leu1281Val		A9Z1V9	Missense_Mutation	SNP	NULL	p.L1281V	ENST00000302326.4	37	c.3841	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327619	0.81690	.	.	ENSG00000169184	ENST00000302326	T	0.47869	0.83	4.07	4.07	0.47477	.	0.104021	0.38959	N	0.001513	T	0.54078	0.1836	N	0.19112	0.55	0.48511	D	0.999665	D	0.67145	0.996	D	0.80764	0.994	T	0.62431	-0.6856	10	0.87932	D	0	-21.5226	16.1297	0.81418	0.0:0.0:1.0:0.0	.	1281	Q10571	MN1_HUMAN	V	1281	ENSP00000304956:L1281V	ENSP00000304956:L1281V	L	-	1	2	MN1	26477025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.218000	0.77991	2.187000	0.69744	0.561000	0.74099	CTG	MN1	-	NULL		0.602	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	G	NM_002430		28147025	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	C	C	28147025	G	C	28147025	3	2	193	1	0	0	0	0	1	0	0	0	9696	991	35	4	125	4	MN1	22	28147025	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4509779	28147025	23157541	419	37079										
TMPRSS6	164656	genome.wustl.edu	37	chr22	37471306	37471306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cggcgtagggctgcaggatgCgcaagccacacagcctgggg	17	12	0	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:37471306C>T	ENST00000346753.3	-	11	1354	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R404H|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R404H|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R404H	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	413	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGCAGGATGCGCAAGCCACA	0.667																																																	0													37	39	39					22																	37471306		2203	4299	6502	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1238G>A	22.37:g.37471306C>T	ENSP00000334962:p.Arg413His		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.R404H	ENST00000346753.3	37	c.1211	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902913	0.92035	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.27	5.27	0.74061	CUB (4);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.67953	2.075	0.54753	D	0.999984	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.828	T	0.41215	-0.9521	10	0.66056	D	0.02	.	18.8759	0.92334	0.0:1.0:0.0:0.0	.	404;413	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	H	404;413;404;404	ENSP00000371211:R404H;ENSP00000334962:R413H;ENSP00000385453:R404H;ENSP00000384964:R404H	ENSP00000334962:R413H	R	-	2	0	TMPRSS6	35801252	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.158000	0.77470	2.455000	0.83008	0.561000	0.74099	CGC	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB,pfscan_CUB		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	C	NM_153609		37471306	-1	no_errors	ENST00000381792	ensembl	human	known	70_37	missense	SNP	1.000	T	T	37471306	C	T	37471306	3	4	193	1	0	0	0	0	1	0	0	0	16281	768	27	2	1229	2	TMPRSS6	22	37471306	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	9324281	37471306	13833260	420	37080										
SREBF2	6721	genome.wustl.edu	37	chr22	42267031	42267031	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctatccagacggctgcccttCaagtaccagtaagagctgcc	9	14	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:42267031C>T	ENST00000361204.4	+	4	1025	c.859C>T	c.(859-861)Caa>Taa	p.Q287*		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	287	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCTGCCCTTCAAGTACCAGT	0.547																																																	0													101	100	100					22																	42267031		2203	4300	6503	SO:0001587	stop_gained	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.859C>T	22.37:g.42267031C>T	ENSP00000354476:p.Gln287*		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Nonsense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.Q287*	ENST00000361204.4	37	c.859	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	C	39	7.313062	0.98203	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.2623	19.365	0.94458	0.0:1.0:0.0:0.0	.	.	.	.	X	287	.	ENSP00000354476:Q287X	Q	+	1	0	SREBF2	40596977	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.805000	0.86005	2.577000	0.86979	0.455000	0.32223	CAA	SREBF2	-	NULL		0.547	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	C	NM_004599		42267031	1	no_errors	ENST00000361204	ensembl	human	known	70_37	nonsense	SNP	1.000	T	T	42267031	C	T	42267031	4	4	193	1	0	0	0	0	0	1	0	0	15172	827	29	1	873	1	SREBF2	22	42267031	Nonsense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	4795725	42267031	9037535	421	37081										
CERK	64781	genome.wustl.edu	37	chr22	47083041	47083041	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cgccggcttctcagctgtgtGagtctggcttcggattctct	12	12	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:47083041G>A	ENST00000216264.8	-	13	1716	c.1604C>T	c.(1603-1605)tCa>tTa	p.S535L	CERK_ENST00000471929.1_5'Flank|CERK_ENST00000541677.1_Missense_Mutation_p.S337L	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	535					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCAGCTGTGTGAGTCTGGCTT	0.453																																																	0													64	65	65					22																	47083041		2203	4300	6503	SO:0001583	missense	64781			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1604C>T	22.37:g.47083041G>A	ENSP00000216264:p.Ser535Leu		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.S535L	ENST00000216264.8	37	c.1604	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	g	11.84	1.757654	0.31137	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.30448	2.23;1.53	5.18	-2.94	0.05581	.	2.662760	0.02782	N	0.121007	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15896	-1.0421	10	0.27785	T	0.31	-8.1976	3.9258	0.09263	0.3139:0.0:0.4303:0.2558	.	535	Q8TCT0	CERK1_HUMAN	L	535;337	ENSP00000216264:S535L;ENSP00000438659:S337L	ENSP00000216264:S535L	S	-	2	0	CERK	45461705	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.021000	0.12504	-0.066000	0.12998	0.563000	0.77884	TCA	CERK	-	NULL		0.453	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	G	NM_022766		47083041	-1	no_errors	ENST00000216264	ensembl	human	known	70_37	missense	SNP	0.000	A	A	47083041	G	A	47083041	3	1	193	1	0	0	0	0	1	0	0	0	3272	1294	45	1	13	1	CERK	22	47083041	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	4816010	47083041	4221525	422	37082										
VCX3B	425054	genome.wustl.edu	37	chrX	8434034	8434034	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gaggaaccactgagtcaggaGagcgaggtggaagaaccact	15	8	1	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:8434034G>C	ENST00000381032.1	+	3	658	c.351G>C	c.(349-351)gaG>gaC	p.E117D	VCX3B_ENST00000381029.4_Intron|VCX3B_ENST00000453306.1_Missense_Mutation_p.E117D|VCX3B_ENST00000444481.1_Missense_Mutation_p.E117D|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	117	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						TGAGTCAGGAGAGCGAGGTGG	0.632																																																	0													3	6	6					X																	8434034		613	2622	3235	SO:0001583	missense	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.351G>C	X.37:g.8434034G>C	ENSP00000370420:p.Glu117Asp		C9JS46|Q4KN12	Missense_Mutation	SNP	NULL	p.E117D	ENST00000381032.1	37	c.351	CCDS48077.2	X	.	.	.	.	.	.	.	.	.	.	G	7.765	0.706228	0.15239	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481	T;T;T	0.21031	2.03;2.03;2.03	0.669	0.669	0.17918	.	.	.	.	.	T	0.10252	0.0251	L	0.27053	0.805	0.09310	N	1	P;P	0.41041	0.736;0.736	B;B	0.31614	0.133;0.133	T	0.23619	-1.0183	9	0.87932	D	0	.	2.9739	0.05932	0.3497:0.0:0.6503:0.0	.	117;117	Q9H321;E7ERZ8	VCX3B_HUMAN;.	D	117	ENSP00000370420:E117D;ENSP00000411785:E117D;ENSP00000414780:E117D	ENSP00000370420:E117D	E	+	3	2	VCX3B	8394034	0.127000	0.22367	0.001000	0.08648	0.001000	0.01503	0.544000	0.23253	0.632000	0.30432	0.453000	0.30009	GAG	VCX3B	-	NULL		0.632	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	HGNC	protein_coding	OTTHUMT00000055691.1	G			8434034	1	no_errors	ENST00000444481	ensembl	human	known	70_37	missense	SNP	0.001	C	C	8434034	G	C	8434034	3	2	193	1	0	0	0	0	1	0	0	0	17176	933	33	1	357	1	VCX3B	23	8434034	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09		8434034	146836526	423	37083										
CDKL5	6792	genome.wustl.edu	37	chrX	18668690	18668690	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtccgaggcactgatgctttCagctgcccaacccagcaatc	9	15	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:18668690C>T	ENST00000379989.3	+	21	3243	c.2958C>T	c.(2956-2958)ttC>ttT	p.F986F	RS1_ENST00000476595.1_5'Flank|CDKL5_ENST00000379996.3_Silent_p.F986F|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	986					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTGATGCTTTCAGCTGCCCAA	0.587																																																	0													100	80	87					X																	18668690		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2958C>T	X.37:g.18668690C>T			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F986	ENST00000379989.3	37	c.2958	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.587	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	C	NM_003159		18668690	1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.001	T	T	18668690	C	T	18668690	2	4	193	1	0	0	0	0	0	0	0	1	3162	825	29	1		1	CDKL5	23	18668690	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	10234656	18668690	136601870	424	37084										
DCAF8L1	139425	genome.wustl.edu	37	chrX	27998204	27998204	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcactgagagaggagttgaaGaggtaaatatcttcatcatt	10	5	4	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:27998204G>A	ENST00000441525.1	-	1	1362	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	416										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGTTGAAGAGGTAAATAT	0.428																																																	0													90	82	85					X																	27998204		2202	4300	6502	SO:0001819	synonymous_variant	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1248C>T	X.37:g.27998204G>A			B3KXX1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L416	ENST00000441525.1	37	c.1248	CCDS35222.1	X																																																																																			DCAF8L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.428	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	G	XM_066690		27998204	-1	no_errors	ENST00000441525	ensembl	human	known	70_37	silent	SNP	1.000	A	A	27998204	G	A	27998204	2	1	193	1	0	0	0	0	0	0	0	1	4282	929	33	1		1	DCAF8L1	23	27998204	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	9329514	27998204	127272356	425	37085										
DMD	1756	genome.wustl.edu	37	chrX	31190490	31190490	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctcattaggagagatgctatCatttagataagatccattgc	8	7	2	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:31190490C>G	ENST00000357033.4	-	73	10575	c.10369G>C	c.(10369-10371)Gat>Cat	p.D3457H	DMD_ENST00000359836.1_Missense_Mutation_p.D984H|DMD_ENST00000378702.4_Missense_Mutation_p.D389H|DMD_ENST00000378680.2_Intron|DMD_ENST00000378677.2_Missense_Mutation_p.D3453H|DMD_ENST00000541735.1_Intron|DMD_ENST00000361471.4_Missense_Mutation_p.D376H|DMD_ENST00000343523.2_Intron|DMD_ENST00000474231.1_Missense_Mutation_p.D997H|DMD_ENST00000378707.3_Missense_Mutation_p.D997H|DMD_ENST00000378723.3_Missense_Mutation_p.D389H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3457					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAGATGCTATCATTTAGATAA	0.348																																																	0													142	115	124					X																	31190490		2202	4299	6501	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10369G>C	X.37:g.31190490C>G	ENSP00000354923:p.Asp3457His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.D3457H	ENST00000357033.4	37	c.10369	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.484129|4.484129	0.84854|0.84854	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000378702;ENST00000474231;ENST00000361471|ENST00000465285	D;D;D;D;D;D;D;D;D|.	0.85861|.	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.37906|.	U|.	0.001890|.	T|.	0.79179|.	0.4402|.	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D;D;D;D;D;D;B;D|.	0.89917|.	0.502;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.984;1.0;1.0;0.439;1.0|.	P;D;D;D;D;D;D;D;D;D;D;B;D|.	0.91635|.	0.481;0.998;0.998;0.998;0.998;0.973;0.976;0.984;0.919;0.997;0.999;0.105;0.997|.	T|.	0.80779|.	-0.1230|.	10|.	0.72032|.	D|.	0.01|.	.|.	17.9679|17.9679	0.89105|0.89105	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3449;3457;3453;2116;2113;984;997;997;3334;376;389;376;389|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.|.	H|S	3449;2116;2113;389;1140;3453;3457;984;3457;3334;997;389;997;376|1185	ENSP00000367997:D389H;ENSP00000350765:D1140H;ENSP00000367948:D3453H;ENSP00000354923:D3457H;ENSP00000352894:D984H;ENSP00000367979:D997H;ENSP00000367974:D389H;ENSP00000417123:D997H;ENSP00000354464:D376H|.	ENSP00000354923:D3457H|.	D|X	-|-	1|2	0|2	DMD|DMD	31100411|31100411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.416000|7.416000	0.80143|0.80143	2.433000|2.433000	0.82419|0.82419	0.600000|0.600000	0.82982|0.82982	GAT|TGA	DMD	-	pirsf_Dystrophin/utrophin		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31190490	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	G	G	31190490	C	G	31190490	3	3	193	1	0	0	0	0	1	0	0	0	4590	826	29	1	802	1	DMD	23	31190490	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3192286	31190490	124080070	426	37086										
RP2	6102	genome.wustl.edu	37	chrX	46719528	46719528	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cacctgacttccttcctcttCtgaacaaaggtaccttctgg	6	14	3	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:46719528C>A	ENST00000218340.3	+	3	1035	c.874C>A	c.(874-876)Ctg>Atg	p.L292M		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	292					cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CCTTCCTCTTCTGAACAAAGG	0.378																																																	0													82	72	76					X																	46719528		2203	4300	6503	SO:0001583	missense	6102			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.874C>A	X.37:g.46719528C>A	ENSP00000218340:p.Leu292Met		Q86XJ7|Q9NU67	Missense_Mutation	SNP	pfam_Tubulin-bd_cofactor_C,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	p.L292M	ENST00000218340.3	37	c.874	CCDS14270.1	X	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938826	0.34189	.	.	ENSG00000102218	ENST00000218340	T	0.74842	-0.88	4.65	-0.141	0.13452	.	0.486734	0.20725	N	0.086838	T	0.63105	0.2483	L	0.47716	1.5	0.29331	N	0.866685	P	0.43542	0.81	B	0.41510	0.359	T	0.58962	-0.7543	10	0.45353	T	0.12	-6.5604	6.6325	0.22865	0.0:0.4317:0.3863:0.182	.	292	O75695	XRP2_HUMAN	M	292	ENSP00000218340:L292M	ENSP00000218340:L292M	L	+	1	2	RP2	46604472	0.999000	0.42202	0.926000	0.36857	0.931000	0.56810	0.909000	0.28558	-0.158000	0.11040	-0.172000	0.13284	CTG	RP2	-	superfamily_Nucleoside_diP_kinase,pirsf_Protein_XRP2		0.378	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP2	HGNC	protein_coding	OTTHUMT00000056375.1	C	NM_006915		46719528	1	no_errors	ENST00000218340	ensembl	human	known	70_37	missense	SNP	0.921	A	A	46719528	C	A	46719528	3	1	193	1	0	0	0	0	1	0	0	0	13564	912	32	3	884	3	RP2	23	46719528	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	15529038	46719528	108551032	427	37087										
ZNF81	347344	genome.wustl.edu	37	chrX	47774737	47774737	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tcaagtttttacccagaactCttcttatagtcaccacgaaa	4	11	4	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:47774737C>A	ENST00000376954.1	+	6	1060	c.692C>A	c.(691-693)tCt>tAt	p.S231Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.S231Y			P51508	ZNF81_HUMAN	zinc finger protein 81	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACCCAGAACTCTTCTTATAGT	0.358													C|||	1	0.000264901	0	0.0014	3775	,	,		14118	0		0	False		,,,				2504	0																0													60	59	59					X																	47774737		1890	4100	5990	SO:0001583	missense	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.692C>A	X.37:g.47774737C>A	ENSP00000366153:p.Ser231Tyr		Q6RX22|Q96QH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S231Y	ENST00000376954.1	37	c.692	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	C	0.321	-0.962000	0.02249	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.18502	2.21;2.21	3.45	1.58	0.23477	.	1.274540	0.05642	N	0.583622	T	0.19485	0.0468	M	0.64170	1.965	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32079	-0.9920	10	0.52906	T	0.07	.	5.5234	0.16945	0.4027:0.4029:0.1944:0.0	.	231	P51508	ZNF81_HUMAN	Y	231	ENSP00000366153:S231Y;ENSP00000341151:S231Y	ENSP00000341151:S231Y	S	+	2	0	ZNF81	47659681	0.001000	0.12720	0.009000	0.14445	0.017000	0.09413	1.171000	0.31896	0.293000	0.22520	0.468000	0.43344	TCT	ZNF81	-	NULL		0.358	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	C	NM_007137		47774737	1	no_errors	ENST00000338637	ensembl	human	known	70_37	missense	SNP	0.041	A	A	47774737	C	A	47774737	3	1	193	1	0	0	0	0	1	0	0	0	18204	913	32	3	706	3	ZNF81	23	47774737	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1055209	47774737	107495823	428	37088										
ZNF81	347344	genome.wustl.edu	37	chrX	47775374	47775374	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	acaggagagaggtcctatatCtgtactcaatgtgggcaggc	13	8	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:47775374C>T	ENST00000376954.1	+	6	1697	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	ZNF81_ENST00000338637.7_Silent_p.I443I			P51508	ZNF81_HUMAN	zinc finger protein 81	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGTCCTATATCTGTACTCAAT	0.448																																																	0													49	47	48					X																	47775374		2200	4299	6499	SO:0001819	synonymous_variant	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1329C>T	X.37:g.47775374C>T			Q6RX22|Q96QH6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I443	ENST00000376954.1	37	c.1329	CCDS43933.1	X																																																																																			ZNF81	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	C	NM_007137		47775374	1	no_errors	ENST00000338637	ensembl	human	known	70_37	silent	SNP	0.168	T	T	47775374	C	T	47775374	2	4	193	1	0	0	0	0	0	0	0	1	18204	903	32	1		1	ZNF81	23	47775374	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	637	47775374	107495186	429	37089										
CACNA1F	778	genome.wustl.edu	37	chrX	49088168	49088168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cacgatgctgatgcaggaccGtcgcagaggattggccaggg	16	10	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:49088168G>A	ENST00000376265.2	-	2	308	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R83W|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	83					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGCAGGACCGTCGCAGAGGA	0.607																																																	0													96	75	82					X																	49088168		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.247C>T	X.37:g.49088168G>A	ENSP00000365441:p.Arg83Trp		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R83W	ENST00000376265.2	37	c.247	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641589	0.47153	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	T;T	0.77229	-1.08;-1.08	5.15	3.05	0.35203	.	0.331114	0.27354	N	0.019750	D	0.84871	0.5568	M	0.87381	2.88	0.28554	N	0.911461	D;D	0.64830	0.994;0.99	P;P	0.53224	0.721;0.53	T	0.81357	-0.0969	9	.	.	.	.	12.9687	0.58499	0.0:0.0:0.6059:0.3941	.	83;83	F5CIQ9;O60840	.;CAC1F_HUMAN	W	83	ENSP00000321618:R83W;ENSP00000365441:R83W	.	R	-	1	2	CACNA1F	48975112	0.000000	0.05858	0.503000	0.27626	0.715000	0.41141	0.069000	0.14552	0.890000	0.36211	0.436000	0.28706	CGG	CACNA1F	-	NULL		0.607	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49088168	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	0.739	A	A	49088168	G	A	49088168	3	1	193	1	0	0	0	0	1	0	0	0	2548	1144	40	2	5874	2	CACNA1F	23	49088168	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1312794	49088168	106182392	430	37090										
CCNB3	85417	genome.wustl.edu	37	chrX	50054313	50054313	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gacacctttctggaaacattCttgatcccccaaattggaac	6	12	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:50054313C>G	ENST00000376042.1	+	6	3442	c.3144C>G	c.(3142-3144)ttC>ttG	p.F1048L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.F1048L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1048					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGGAAACATTCTTGATCCCCC	0.498																																																	0													121	100	107					X																	50054313		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3144C>G	X.37:g.50054313C>G	ENSP00000365210:p.Phe1048Leu		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.F1048L	ENST00000376042.1	37	c.3144	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	9.341	1.063046	0.19987	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.19250	2.16;2.16	2.6	1.7	0.24286	.	968.749000	0.00166	N	0.000000	T	0.16171	0.0389	L	0.27053	0.805	0.09310	N	1	B	0.15719	0.014	B	0.14023	0.01	T	0.18429	-1.0337	9	.	.	.	.	5.9401	0.19187	0.3087:0.6913:0.0:0.0	.	1048	Q8WWL7	CCNB3_HUMAN	L	1048	ENSP00000365210:F1048L;ENSP00000276014:F1048L	.	F	+	3	2	CCNB3	50071053	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.555000	0.05999	0.492000	0.27815	0.292000	0.19580	TTC	CCNB3	-	NULL		0.498	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	C			50054313	1	no_errors	ENST00000276014	ensembl	human	known	70_37	missense	SNP	0.001	G	G	50054313	C	G	50054313	3	3	193	1	0	0	0	0	1	0	0	0	2919	912	32	1	3158	1	CCNB3	23	50054313	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	966145	50054313	105216247	431	37091										
DGKK	139189	genome.wustl.edu	37	chrX	50130629	50130629	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tacaatatcaaccacaaaatCttccacagctgaacacaaga	3	12	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:50130629C>T	ENST00000376025.2	-	0	2100							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			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)					ACCACAAAATCTTCCACAGCT	0.408																																																	0													85	70	75					X																	50130629		1893	4104	5997			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50130629C>T			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.408	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50130629	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	1.000	T	T	50130629	C	T	50130629	1	4	193	0	1	0	0	0	0	0	0	0	4482	913	32	1		1	DGKK	23	50130629	RNA	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	76316	50130629	105139931	432	37092										
MAGED1	9500	genome.wustl.edu	37	chrX	51641680	51641680	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	cctttttttaccttcagggtGagacatcccctccttggaga	8	12	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:51641680G>A	ENST00000375722.1	+	10	2037	c.1785G>A	c.(1783-1785)gtG>gtA	p.V595V	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Silent_p.V651V|MAGED1_ENST00000375772.3_Silent_p.V595V|MAGED1_ENST00000326587.7_Silent_p.V595V			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	595	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTTCAGGGTGAGACATCCCC	0.443										Multiple Myeloma(10;0.10)																																							0													161	145	151					X																	51641680		2203	4300	6503	SO:0001819	synonymous_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1785G>A	X.37:g.51641680G>A			Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V651	ENST00000375722.1	37	c.1953	CCDS14337.1	X																																																																																			MAGED1	-	pfam_MAGE,pfscan_MAGE		0.443	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	G	NM_001005332		51641680	1	no_errors	ENST00000375695	ensembl	human	known	70_37	silent	SNP	1.000	A	A	51641680	G	A	51641680	2	1	193	1	0	0	0	0	0	0	0	1	9206	1277	45	1		1	MAGED1	23	51641680	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1511051	51641680	103628880	433	37093										
RIBC1	158787	genome.wustl.edu	37	chrX	53457907	53457907	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atcaacctacagcccagtatCaccagcagtttaacaccagc	5	15	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:53457907C>T	ENST00000375327.3	+	8	1264	c.1111C>T	c.(1111-1113)Cac>Tac	p.H371Y	RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	371										lung(2)	2						AGCCCAGTATCACCAGCAGTT	0.478																																																	0													215	166	183					X																	53457907		2203	4300	6503	SO:0001583	missense	158787			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.1111C>T	X.37:g.53457907C>T	ENSP00000364476:p.His371Tyr		B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	pfam_RIB43A	p.H371Y	ENST00000375327.3	37	c.1111	CCDS35299.1	X	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.469157	0.00169	.	.	ENSG00000158423	ENST00000375327	T	0.16743	2.32	5.32	-4.55	0.03441	.	0.502419	0.22600	N	0.057963	T	0.08891	0.0220	N	0.20986	0.625	0.26783	N	0.969567	B	0.06786	0.001	B	0.09377	0.004	T	0.14952	-1.0454	10	0.25106	T	0.35	-1.0585	10.7572	0.46243	0.1071:0.1773:0.0:0.7157	.	371	Q8N443	RIBC1_HUMAN	Y	371	ENSP00000364476:H371Y	ENSP00000364476:H371Y	H	+	1	0	RIBC1	53474632	0.026000	0.19158	0.000000	0.03702	0.192000	0.23643	-0.041000	0.12084	-1.995000	0.00971	-0.380000	0.06706	CAC	RIBC1	-	pfam_RIB43A		0.478	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RIBC1	HGNC	protein_coding	OTTHUMT00000056762.1	C	NM_144968		53457907	1	no_errors	ENST00000375327	ensembl	human	known	70_37	missense	SNP	0.003	T	T	53457907	C	T	53457907	3	4	193	1	0	0	0	0	1	0	0	0	13382	826	29	1	1168	1	RIBC1	23	53457907	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1816227	53457907	101812653	434	37094										
WNK3	65267	genome.wustl.edu	37	chrX	54278033	54278033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttctgtggcaaagtggacatGaaggatctcctgggcttgac	13	8	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:54278033G>A	ENST00000375159.2	-	13	2454	c.2455C>T	c.(2455-2457)Cat>Tat	p.H819Y	WNK3_ENST00000354646.2_Missense_Mutation_p.H819Y|WNK3_ENST00000375169.3_Missense_Mutation_p.H819Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	819					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AAGTGGACATGAAGGATCTCC	0.413																																																	0													94	87	90					X																	54278033		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2455C>T	X.37:g.54278033G>A	ENSP00000364301:p.His819Tyr		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H819Y	ENST00000375159.2	37	c.2455	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536042	0.45176	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.29142	1.58;1.58;1.58	5.31	5.31	0.75309	.	0.106936	0.42172	D	0.000744	T	0.28764	0.0713	N	0.24115	0.695	0.25840	N	0.984063	P;P	0.47604	0.898;0.837	P;B	0.47075	0.536;0.335	T	0.10917	-1.0609	10	0.27785	T	0.31	-12.115	16.7351	0.85445	0.0:0.0:1.0:0.0	.	819;819	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	819	ENSP00000364312:H819Y;ENSP00000346667:H819Y;ENSP00000364301:H819Y	ENSP00000346667:H819Y	H	-	1	0	WNK3	54294758	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.249000	0.58766	2.212000	0.71576	0.422000	0.28245	CAT	WNK3	-	NULL		0.413	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	G	NM_020922		54278033	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	missense	SNP	0.999	A	A	54278033	G	A	54278033	3	1	193	1	0	0	0	0	1	0	0	0	17410	1290	45	1	2991	1	WNK3	23	54278033	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	820126	54278033	100992527	435	37095										
USP51	158880	genome.wustl.edu	37	chrX	55514409	55514409	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccctgatgtcataaactgttGatgagaaacatctgttgagg	10	7	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:55514409G>A	ENST00000500968.3	-	2	1046	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	322					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATAAACTGTTGATGAGAAACA	0.338																																																	0													88	88	88					X																	55514409		2203	4300	6503	SO:0001587	stop_gained	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.964C>T	X.37:g.55514409G>A	ENSP00000423333:p.Gln322*		Q8IWJ8	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.Q322*	ENST00000500968.3	37	c.964	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	24.2	4.500472	0.85176	.	.	ENSG00000247746	ENST00000500968	.	.	.	3.19	1.19	0.21007	.	1.468900	0.04432	U	0.369367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	4.7598	0.13102	0.0:0.2408:0.5088:0.2505	.	.	.	.	X	322	.	ENSP00000423333:Q322X	Q	-	1	0	USP51	55531134	1.000000	0.71417	0.944000	0.38274	0.978000	0.69477	1.075000	0.30716	0.178000	0.19917	0.508000	0.49915	CAA	USP51	-	NULL		0.338	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	G	NM_201286		55514409	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	nonsense	SNP	0.871	A	A	55514409	G	A	55514409	4	1	193	1	0	0	0	0	0	1	0	0	17114	1299	45	1	1175	1	USP51	23	55514409	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1236376	55514409	99756151	436	37096										
ARHGEF9	23229	genome.wustl.edu	37	chrX	62944444	62944444	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggcaggaaaccatccctcctCatcgtcgatctggccccacc	8	18	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:62944444C>T	ENST00000253401.6	-	2	957	c.157G>A	c.(157-159)Gag>Aag	p.E53K	ARHGEF9_ENST00000437457.2_Intron|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E51K|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E32K|ARHGEF9_ENST00000374870.4_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	53	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CATCCCTCCTCATCGTCGATC	0.547																																																	0													140	90	107					X																	62944444		2203	4300	6503	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.157G>A	X.37:g.62944444C>T	ENSP00000253401:p.Glu53Lys		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E53K	ENST00000253401.6	37	c.157	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330506	0.24167	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000374872	T;T;T	0.42513	0.97;0.97;0.97	5.55	4.68	0.58851	Src homology-3 domain (3);Variant SH3 (1);	0.073124	0.53938	D	0.000043	T	0.16514	0.0397	N	0.01771	-0.73	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.17098	0.017;0.017	T	0.17379	-1.0371	10	0.02654	T	1	.	13.5359	0.61646	0.1572:0.8428:0.0:0.0	.	51;53	B1AMR4;O43307	.;ARHG9_HUMAN	K	53;51;32	ENSP00000253401:E53K;ENSP00000364012:E51K;ENSP00000364006:E32K	ENSP00000253401:E53K	E	-	1	0	ARHGEF9	62861169	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.664000	0.61540	1.083000	0.41159	-0.300000	0.09419	GAG	ARHGEF9	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.547	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	C			62944444	-1	no_errors	ENST00000253401	ensembl	human	known	70_37	missense	SNP	1.000	T	T	62944444	C	T	62944444	3	4	193	1	0	0	0	0	1	0	0	0	912	835	29	1	1429	1	ARHGEF9	23	62944444	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	7430035	62944444	92326116	437	37097										
LAS1L	81887	genome.wustl.edu	37	chrX	64749560	64749560	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctccatcggcctttacatctGactccgtacttttcccatca	4	16	2	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:64749560G>A	ENST00000374811.3	-	5	753	c.713C>T	c.(712-714)tCa>tTa	p.S238L	LAS1L_ENST00000374804.5_Missense_Mutation_p.S196L|LAS1L_ENST00000374807.5_Missense_Mutation_p.S238L|LAS1L_ENST00000312391.8_Missense_Mutation_p.S238L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	238					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTTTACATCTGACTCCGTACT	0.453																																																	0													215	173	187					X																	64749560		2203	4300	6503	SO:0001583	missense	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.713C>T	X.37:g.64749560G>A	ENSP00000363944:p.Ser238Leu		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.S238L	ENST00000374811.3	37	c.713	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608132	0.14002	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.18	0.092	0.14470	.	0.781562	0.11454	N	0.562478	T	0.11750	0.0286	N	0.01267	-0.92	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33929	-0.9849	9	0.18710	T	0.47	.	8.4439	0.32830	0.3645:0.0:0.6355:0.0	.	196;238;238	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	L	238;238;196;238	.	ENSP00000308649:S238L	S	-	2	0	LAS1L	64666285	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.145000	0.10265	-0.005000	0.14395	0.600000	0.82982	TCA	LAS1L	-	NULL		0.453	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	G	NM_031206		64749560	-1	no_errors	ENST00000374811	ensembl	human	known	70_37	missense	SNP	0.000	A	A	64749560	G	A	64749560	3	1	193	1	0	0	0	0	1	0	0	0	8656	1294	45	1	1531	1	LAS1L	23	64749560	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1805116	64749560	90521000	438	37098										
ZMYM3	9203	genome.wustl.edu	37	chrX	70461085	70461085	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccaccaactcaccattttgaGagatagaattcatagaactt	5	10	2	4			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:70461085G>A	ENST00000353904.2	-	24	4099	c.3912C>T	c.(3910-3912)ctC>ctT	p.L1304L	ZMYM3_ENST00000373998.1_Silent_p.L1292L|ZMYM3_ENST00000314425.5_Silent_p.L1304L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.L1306L|ZMYM3_ENST00000373984.3_Silent_p.L1214L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1304					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACCATTTTGAGAGATAGAATT	0.517																																																	0													108	88	95					X																	70461085		2203	4300	6503	SO:0001819	synonymous_variant	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3912C>T	X.37:g.70461085G>A			D3DVV3|O15089|Q96E26	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.L1306	ENST00000353904.2	37	c.3918	CCDS14409.1	X																																																																																			ZMYM3	-	pfam_DUF3504		0.517	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70461085	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	silent	SNP	1.000	A	A	70461085	G	A	70461085	2	1	193	1	0	0	0	0	0	0	0	1	17731	929	33	1		1	ZMYM3	23	70461085	Silent	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	5711525	70461085	84809475	439	37099										
ACRC	93953	genome.wustl.edu	37	chrX	70828885	70828885	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tgaaaagtcaaagaaatactCtggaaaaaatttaaagcgaa	7	4	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:70828885C>G	ENST00000373695.1	+	9	2066	c.1529C>G	c.(1528-1530)tCt>tGt	p.S510C	ACRC_ENST00000373696.3_Missense_Mutation_p.S510C			Q96QF7	ACRC_HUMAN	acidic repeat containing	510	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAGAAATACTCTGGAAAAAAT	0.358																																																	0													57	52	53					X																	70828885		2203	4300	6503	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1529C>G	X.37:g.70828885C>G	ENSP00000362799:p.Ser510Cys		B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S510C	ENST00000373695.1	37	c.1529	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718812	0.48622	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34275	1.37;1.37	5.05	4.11	0.48088	.	.	.	.	.	T	0.51176	0.1659	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	D	0.66847	0.947	T	0.33163	-0.9879	9	0.54805	T	0.06	.	8.587	0.33664	0.2483:0.7517:0.0:0.0	.	510	Q96QF7	ACRC_HUMAN	C	510	ENSP00000362800:S510C;ENSP00000362799:S510C	ENSP00000362799:S510C	S	+	2	0	ACRC	70745610	1.000000	0.71417	0.382000	0.26119	0.003000	0.03518	3.478000	0.53158	2.333000	0.79357	0.436000	0.28706	TCT	ACRC	-	NULL		0.358	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	C			70828885	1	no_errors	ENST00000373695	ensembl	human	known	70_37	missense	SNP	0.149	G	G	70828885	C	G	70828885	3	3	193	1	0	0	0	0	1	0	0	0	171	913	32	1	1563	1	ACRC	23	70828885	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	367800	70828885	84441675	440	37100										
RGAG4	340526	genome.wustl.edu	37	chrX	71349694	71349694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccagcactcaaactcgaattCggccacgagcagctcggtgg	11	14	1	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:71349694C>T	ENST00000545866.1	-	1	2064	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R566Q	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	566										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AACTCGAATTCGGCCACGAGC	0.617																																																	0													25	29	28					X																	71349694		1925	4123	6048	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1697G>A	X.37:g.71349694C>T	ENSP00000441366:p.Arg566Gln		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag	p.R566Q	ENST00000545866.1	37	c.1697	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	C	14.72	2.621138	0.46736	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.25579	1.79;1.79	4.05	3.18	0.36537	.	.	.	.	.	T	0.12263	0.0298	N	0.19112	0.55	0.09310	N	1	P	0.47106	0.89	B	0.34489	0.184	T	0.09143	-1.0688	8	.	.	.	-2.6177	6.583	0.22605	0.0:0.8688:0.0:0.1312	.	566	Q5HYW3	RGAG4_HUMAN	Q	566	ENSP00000441366:R566Q;ENSP00000418667:R566Q	.	R	-	2	0	RGAG4	71266419	0.867000	0.29959	0.149000	0.22428	0.945000	0.59286	0.955000	0.29188	1.070000	0.40811	0.292000	0.19580	CGA	RGAG4	-	NULL		0.617	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1	C	NM_001024455		71349694	-1	no_errors	ENST00000479991	ensembl	human	known	70_37	missense	SNP	0.107	T	T	71349694	C	T	71349694	3	4	193	1	0	0	0	0	1	0	0	0	13305	884	31	1	16	1	RGAG4	23	71349694	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	520809	71349694	83920866	441	37101										
KIAA2022	340533	genome.wustl.edu	37	chrX	73960815	73960815	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttttttcctggtgtttttctGagaagagctttggttcatag	10	5	2	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:73960815G>A	ENST00000055682.6	-	3	4188	c.3577C>T	c.(3577-3579)Cag>Tag	p.Q1193*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1193					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGTTTTTCTGAGAAGAGCTT	0.423																																																	0													79	76	77					X																	73960815		2203	4300	6503	SO:0001587	stop_gained	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3577C>T	X.37:g.73960815G>A	ENSP00000055682:p.Gln1193*		A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	NULL	p.Q1193*	ENST00000055682.6	37	c.3577	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	47	13.730897	0.99759	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	4.75	4.75	0.60458	.	0.459579	0.24152	N	0.041068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-6.4728	17.006	0.86393	0.0:0.0:1.0:0.0	.	.	.	.	X	1193	.	ENSP00000055682:Q1193X	Q	-	1	0	KIAA2022	73877540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.192000	0.70111	0.600000	0.82982	CAG	KIAA2022	-	NULL		0.423	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	G	NM_001008537		73960815	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	73960815	G	A	73960815	4	1	193	1	0	0	0	0	0	1	0	0	8289	1299	45	1	981	1	KIAA2022	23	73960815	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	2611121	73960815	81309745	442	37102										
KLHL4	56062	genome.wustl.edu	37	chrX	86873030	86873030	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttgatgtttgctccaattttCtcataaagcagctccatcct	5	11	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:86873030C>T	ENST00000373119.4	+	4	968	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	KLHL4_ENST00000373114.4_Missense_Mutation_p.L275F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	275						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTCCAATTTTCTCATAAAGCA	0.438																																																	0													106	87	93					X																	86873030		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.823C>T	X.37:g.86873030C>T	ENSP00000362211:p.Leu275Phe		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L275F	ENST00000373119.4	37	c.823	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490799	0.64074	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.83075	-1.68;-1.68	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.176767	0.39985	N	0.001209	D	0.89880	0.6843	H	0.94698	3.57	0.80722	D	1	B;B	0.31077	0.307;0.262	B;B	0.39935	0.314;0.209	D	0.91504	0.5221	10	0.87932	D	0	.	15.6428	0.77020	0.0:1.0:0.0:0.0	.	275;275	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	F	275	ENSP00000362211:L275F;ENSP00000362206:L275F	ENSP00000362206:L275F	L	+	1	0	KLHL4	86759686	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.527000	0.67123	1.878000	0.54408	0.502000	0.49764	CTC	KLHL4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.438	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	C			86873030	1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	T	T	86873030	C	T	86873030	3	4	193	1	0	0	0	0	1	0	0	0	8411	913	32	1	837	1	KLHL4	23	86873030	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	12912215	86873030	68397530	443	37103										
PABPC5	140886	genome.wustl.edu	37	chrX	90690973	90690973	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	tttctgcttttgggaacattCtgtcctgcaaagtcgtatgc	9	9	2	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:90690973C>T	ENST00000312600.3	+	2	611	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	133	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGGGAACATTCTGTCCTGCAA	0.438																																																	0													98	88	92					X																	90690973		2203	4300	6503	SO:0001819	synonymous_variant	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.397C>T	X.37:g.90690973C>T			A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.L133	ENST00000312600.3	37	c.397	CCDS14460.1	X																																																																																			PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.438	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	C	NM_080832		90690973	1	no_errors	ENST00000312600	ensembl	human	known	70_37	silent	SNP	1.000	T	T	90690973	C	T	90690973	2	4	193	1	0	0	0	0	0	0	0	1	11391	912	32	1		1	PABPC5	23	90690973	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	3817943	90690973	64579587	444	37104										
PCDH19	57526	genome.wustl.edu	37	chrX	99662728	99662728	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gccactgtgcgggtcgatctGaaagagctcgcgcgtgcggt	16	11	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:99662728G>A	ENST00000373034.4	-	1	2543	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Q290*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Q290*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	290	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						GGGTCGATCTGAAAGAGCTCG	0.612																																																	0													93	99	97					X																	99662728		2155	4240	6395	SO:0001587	stop_gained	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.868C>T	X.37:g.99662728G>A	ENSP00000362125:p.Gln290*		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q290*	ENST00000373034.4	37	c.868	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.096394	0.97281	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	.	.	.	5.95	5.95	0.96441	.	0.100002	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.1309	0.65253	0.0:0.0:0.8502:0.1498	.	.	.	.	X	290	.	ENSP00000255531:Q290X	Q	-	1	0	PCDH19	99549384	1.000000	0.71417	0.997000	0.53966	0.870000	0.49936	4.876000	0.63079	2.498000	0.84270	0.513000	0.50165	CAG	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.612	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99662728	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	99662728	G	A	99662728	4	1	193	1	0	0	0	0	0	1	0	0	11538	1299	45	1	2602	1	PCDH19	23	99662728	Nonsense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	8971755	99662728	55607832	445	37105										
NRK	203447	genome.wustl.edu	37	chrX	105132304	105132304	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	taggatgaggaagaggatctCaggactgaactcaaccttct	11	8	3	3			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:105132304C>T	ENST00000243300.9	+	5	573	c.270C>T	c.(268-270)ctC>ctT	p.L90L	NRK_ENST00000536164.1_Silent_p.L90L|NRK_ENST00000428173.2_Silent_p.L90L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAGAGGATCTCAGGACTGAAC	0.428										HNSCC(51;0.14)																																							0													101	84	89					X																	105132304		1890	4098	5988	SO:0001819	synonymous_variant	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.270C>T	X.37:g.105132304C>T			Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L90	ENST00000243300.9	37	c.270		X																																																																																			NRK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.428	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	C	NM_198465		105132304	1	no_errors	ENST00000428173	ensembl	human	known	70_37	silent	SNP	0.906	T	T	105132304	C	T	105132304	2	4	193	1	0	0	0	0	0	0	0	1	10679	813	29	1		1	NRK	23	105132304	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	5469576	105132304	50138256	446	37106										
AMOT	154796	genome.wustl.edu	37	chrX	112058936	112058936	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctgctgcggcctaggcaggtGagctgaatggtctccctggt	15	11	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:112058936G>A	ENST00000524145.1	-	3	1116	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Missense_Mutation_p.H116Y|AMOT_ENST00000371962.1_Missense_Mutation_p.H116Y|AMOT_ENST00000371959.3_Missense_Mutation_p.H348Y			Q4VCS5	AMOT_HUMAN	angiomotin	348					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTAGGCAGGTGAGCTGAATGG	0.582																																																	0													86	77	79					X																	112058936		692	1591	2283	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1042C>T	X.37:g.112058936G>A	ENSP00000429013:p.His348Tyr		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.H348Y	ENST00000524145.1	37	c.1042	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801534	0.31869	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.31	5.31	0.75309	.	0.333963	0.28031	N	0.016875	T	0.04318	0.0119	N	0.22421	0.69	0.29168	N	0.877329	P	0.41450	0.75	B	0.28385	0.089	T	0.17410	-1.0370	10	0.02654	T	1	-15.8529	8.0096	0.30344	0.0:0.1562:0.6544:0.1894	.	348	Q4VCS5	AMOT_HUMAN	Y	348;116;348;116	ENSP00000361027:H348Y;ENSP00000361030:H116Y;ENSP00000429013:H348Y;ENSP00000361026:H116Y	ENSP00000361026:H116Y	H	-	1	0	AMOT	111945592	0.610000	0.26983	0.997000	0.53966	0.979000	0.70002	0.500000	0.22562	2.475000	0.83589	0.529000	0.55759	CAC	AMOT	-	NULL		0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	G	NM_133265		112058936	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	missense	SNP	0.981	A	A	112058936	G	A	112058936	3	1	193	1	0	0	0	0	1	0	0	0	582	1290	45	1	2252	1	AMOT	23	112058936	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	6926632	112058936	43211624	447	37107										
CCDC160	347475	genome.wustl.edu	37	chrX	133379619	133379619	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtgctcctaaaagaagaaatGaaatcatattatgaattaga	7	4	1	5			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:133379619G>A	ENST00000517294.1	+	3	1172	c.789G>A	c.(787-789)atG>atA	p.M263I	CCDC160_ENST00000370809.4_Missense_Mutation_p.M263I			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	263										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAGAAGAAATGAAATCATATT	0.373																																																	0													33	30	31					X																	133379619		1833	4065	5898	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.789G>A	X.37:g.133379619G>A	ENSP00000427951:p.Met263Ile			Missense_Mutation	SNP	NULL	p.M263I	ENST00000517294.1	37	c.789	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	G	4.092	0.014998	0.07959	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.90955	-2.76;-2.76	5.29	2.29	0.28610	.	0.200862	0.34959	N	0.003541	T	0.78984	0.4370	N	0.19112	0.55	0.25093	N	0.99084	B	0.16603	0.018	B	0.14578	0.011	T	0.65792	-0.6082	10	0.44086	T	0.13	-14.1595	2.2595	0.04063	0.1751:0.1503:0.5167:0.1578	.	263	A6NGH7	CC160_HUMAN	I	263	ENSP00000427951:M263I;ENSP00000359845:M263I	ENSP00000359845:M263I	M	+	3	0	CCDC160	133207285	1.000000	0.71417	0.915000	0.36163	0.025000	0.11179	1.540000	0.36115	0.509000	0.28195	0.513000	0.50165	ATG	CCDC160	-	NULL		0.373	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	G	NM_001101357		133379619	1	no_errors	ENST00000370809	ensembl	human	known	70_37	missense	SNP	0.984	A	A	133379619	G	A	133379619	3	1	193	1	0	0	0	0	1	0	0	0	2797	1290	45	1	791	1	CCDC160	23	133379619	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	21320683	133379619	21890941	448	37108										
ZNF75D	7626	genome.wustl.edu	37	chrX	134427773	134427773	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	gtctccttgggcagaatgctCaggaactgctctaacaccag	10	12	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:134427773C>T	ENST00000370766.3	-	3	3003	c.294G>A	c.(292-294)ctG>ctA	p.L98L	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Silent_p.L98L	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	98	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAATGCTCAGGAACTGCT	0.507																																																	0													85	76	79					X																	134427773		2203	4300	6503	SO:0001819	synonymous_variant	7626			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.294G>A	X.37:g.134427773C>T			A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L98	ENST00000370766.3	37	c.294	CCDS14648.1	X																																																																																			ZNF75D	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.507	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	HGNC	protein_coding	OTTHUMT00000058415.1	C	NM_007131		134427773	-1	no_errors	ENST00000370766	ensembl	human	known	70_37	silent	SNP	0.790	T	T	134427773	C	T	134427773	2	4	193	1	0	0	0	0	0	0	0	1	18164	813	29	1		1	ZNF75D	23	134427773	Silent	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	1048154	134427773	20842787	449	37109										
SAGE1	55511	genome.wustl.edu	37	chrX	134989157	134989157	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccaacctgataacatcttgtCaactgcttcaacagggctta	6	12	3	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:134989157C>T	ENST00000370709.3	+	7	809	c.809C>T	c.(808-810)tCa>tTa	p.S270L	SAGE1_ENST00000324447.3_Missense_Mutation_p.S270L|SAGE1_ENST00000535938.1_Missense_Mutation_p.S270L|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	270						nucleus (GO:0005634)				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)					AACATCTTGTCAACTGCTTCA	0.468																																																	0													145	119	127					X																	134989157		2203	4300	6503	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.809C>T	X.37:g.134989157C>T	ENSP00000359743:p.Ser270Leu		Q5JNW0	Missense_Mutation	SNP	NULL	p.S270L	ENST00000370709.3	37	c.809	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	-	12.45	1.940671	0.34283	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.54479	0.57;0.57;0.57	1.76	0.852	0.18995	.	0.166079	0.38548	U	0.001647	T	0.48352	0.1495	N	0.17082	0.46	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.30297	-0.9983	10	0.72032	D	0.01	.	3.6955	0.08362	0.0:0.7442:0.0:0.2558	.	270	Q9NXZ1	SAGE1_HUMAN	L	270	ENSP00000323191:S270L;ENSP00000445959:S270L;ENSP00000359743:S270L	ENSP00000323191:S270L	S	+	2	0	SAGE1	134816823	0.998000	0.40836	0.043000	0.18650	0.051000	0.14879	0.259000	0.18405	0.203000	0.20529	0.171000	0.16805	TCA	SAGE1	-	NULL		0.468	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	C	NM_018666		134989157	1	no_errors	ENST00000324447	ensembl	human	known	70_37	missense	SNP	0.045	T	T	134989157	C	T	134989157	3	4	193	1	0	0	0	0	1	0	0	0	13839	838	29	1	835	1	SAGE1	23	134989157	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	561384	134989157	20281403	450	37110										
FHL1	2273	genome.wustl.edu	37	chrX	135289174	135289174	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ccctgtctgcttggtttccaGgaggtgcactataagaaccg	11	11	1	1			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:135289174G>A	ENST00000345434.3	+	3	237		c.e3-1		FHL1_ENST00000543669.1_Splice_Site|FHL1_ENST00000539015.1_Splice_Site|FHL1_ENST00000370690.3_Splice_Site|FHL1_ENST00000535737.1_Splice_Site|FHL1_ENST00000370676.3_Splice_Site|FHL1_ENST00000394153.2_Splice_Site|FHL1_ENST00000477080.1_Splice_Site|FHL1_ENST00000394155.2_Splice_Site|FHL1_ENST00000370683.1_Splice_Site			Q13642	FHL1_HUMAN	four and a half LIM domains 1						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TTGGTTTCCAGGAGGTGCACT	0.582																																																	0													116	109	111					X																	135289174		2203	4300	6503	SO:0001630	splice_region_variant	2273			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.157-1G>A	X.37:g.135289174G>A			B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Splice_Site	SNP	-	e2-1	ENST00000345434.3	37	c.157-1	CCDS55507.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942919	0.73672	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9118	0.92489	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FHL1	135116840	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	9.869000	0.99810	2.520000	0.84964	0.600000	0.82982	.	FHL1	-	-		0.582	FHL1-002	KNOWN	basic|CCDS	protein_coding	FHL1	HGNC	protein_coding	OTTHUMT00000058461.1	G	NM_001449	Intron	135289174	1	no_errors	ENST00000345434	ensembl	human	known	70_37	splice_site	SNP	1.000	A	A	135289174	G	A	135289174	5	1	193	1	0	0	0	0	0	0	1	0	5896	1014	35	4	279	4	FHL1	23	135289174	Splice_Site	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	300017	135289174	19981386	451	37111										
RBMX	27316	genome.wustl.edu	37	chrX	135961560	135961560	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttaagcccaccaatgaagagCtttcctgggcgatctgcttc	9	12	1	2	rs80321628		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:135961560C>G	ENST00000320676.7	-	2	181	c.27G>C	c.(25-27)aaG>aaC	p.K9N	RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.K9N|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000562646.1_Missense_Mutation_p.K9N	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	9	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K9N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CAATGAAGAGCTTTCCTGGGC	0.413																																																	1	Substitution - Missense(1)	pancreas(1)											109	103	105					X																	135961560		2203	4300	6503	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.27G>C	X.37:g.135961560C>G	ENSP00000359645:p.Lys9Asn		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.K9N	ENST00000320676.7	37	c.27	CCDS14661.1	X	.	.	.	.	.	.	.	.	.	.	.	19.30	3.801463	0.70682	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	D;D	0.89050	-2.46;-2.46	4.66	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	D	0.88507	0.6455	L	0.56340	1.77	0.09310	P	0.9999999999999992	P;B;P	0.46656	0.882;0.278;0.868	P;B;B	0.50270	0.636;0.142;0.311	D	0.91729	0.5395	9	0.72032	D	0.01	.	8.8627	0.35267	0.0:0.7507:0.0:0.2493	.	9;9;9	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	N	9	ENSP00000411989:K9N;ENSP00000359645:K9N	ENSP00000359645:K9N	K	-	3	2	RBMX	135789226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.970000	0.29383	1.905000	0.55150	0.508000	0.49915	AAG	RBMX	-	smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.413	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	C	NM_002139		135961560	-1	no_errors	ENST00000320676	ensembl	human	known	70_37	missense	SNP	1.000	G	G	135961560	C	G	135961560	3	3	193	1	0	0	0	0	1	0	0	0	13181	796	28	4	1235	4	RBMX	23	135961560	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	672386	135961560	19309000	452	37112										
GPR101	83550	genome.wustl.edu	37	chrX	136112351	136112351	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ggaagggacaatcttgccttCagtcccaccctctgttccgg	10	14	3	0			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:136112351C>T	ENST00000298110.1	-	1	1482	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	495						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATCTTGCCTTCAGTCCCACCC	0.468																																																	0													95	89	91					X																	136112351		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1483G>A	X.37:g.136112351C>T	ENSP00000298110:p.Glu495Lys		Q5JSM8|Q8NG93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E495K	ENST00000298110.1	37	c.1483	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	C	6.108	0.388126	0.11581	.	.	ENSG00000165370	ENST00000298110	T	0.63913	-0.07	4.19	3.32	0.38043	.	.	.	.	.	T	0.45196	0.1330	L	0.27053	0.805	0.27464	N	0.953077	P	0.34522	0.455	B	0.29440	0.102	T	0.30297	-0.9983	9	0.41790	T	0.15	-1.0375	9.3964	0.38406	0.0:0.8862:0.0:0.1138	.	495	Q96P66	GP101_HUMAN	K	495	ENSP00000298110:E495K	ENSP00000298110:E495K	E	-	1	0	GPR101	135940017	.	.	0.422000	0.26621	0.031000	0.12232	.	.	0.864000	0.35578	0.429000	0.28392	GAA	GPR101	-	NULL		0.468	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	C			136112351	-1	no_errors	ENST00000298110	ensembl	human	known	70_37	missense	SNP	0.825	T	T	136112351	C	T	136112351	3	4	193	1	0	0	0	0	1	0	0	0	6641	835	29	1	46	1	GPR101	23	136112351	Missense_Mutation	SNP	C	TCGA-UC-A7PF-01A-11D-A351-09	150791	136112351	19158209	453	37113										
GPR50	9248	genome.wustl.edu	37	chrX	150348749	150348749	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	atcctgacaaccaacttgctGaggttcgcaattttctaacc	6	12	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:150348749G>A	ENST00000218316.3	+	2	763	c.694G>A	c.(694-696)Gag>Aag	p.E232K	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	232					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCAACTTGCTGAGGTTCGCAA	0.542																																																	0													147	136	140					X																	150348749		2061	4188	6249	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.694G>A	X.37:g.150348749G>A	ENSP00000218316:p.Glu232Lys		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.E232K	ENST00000218316.3	37	c.694	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165733	0.57476	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.74002	-0.8	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.048300	0.85682	D	0.000000	T	0.69070	0.3070	L	0.38838	1.175	0.46521	D	0.999089	B;B	0.31931	0.194;0.347	B;B	0.43701	0.059;0.428	T	0.61691	-0.7011	10	0.07175	T	0.84	-6.4648	13.7644	0.62986	0.0:0.0:1.0:0.0	.	185;232	F5H1S3;Q13585	.;MTR1L_HUMAN	K	185;232	ENSP00000218316:E232K	ENSP00000218316:E232K	E	+	1	0	GPR50	150099407	1.000000	0.71417	0.999000	0.59377	0.452000	0.32318	9.754000	0.98908	1.903000	0.55091	0.529000	0.55759	GAG	GPR50	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_Melatonin_rcpt		0.542	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	G	NM_004224		150348749	1	no_errors	ENST00000218316	ensembl	human	known	70_37	missense	SNP	1.000	A	A	150348749	G	A	150348749	3	1	193	1	0	0	0	0	1	0	0	0	6716	1291	45	1	700	1	GPR50	23	150348749	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	14236398	150348749	4921811	454	37114										
ZNF185	7739	genome.wustl.edu	37	chrX	152106656	152106656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ctctgctgtccctgctgataGgaagagcaacagcacagcag	11	12	1	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:152106656G>T	ENST00000370268.4	+	15	1194	c.1157G>T	c.(1156-1158)aGg>aTg	p.R386M	ZNF185_ENST00000324823.6_Missense_Mutation_p.R154M|ZNF185_ENST00000449285.2_Missense_Mutation_p.R387M|ZNF185_ENST00000539731.1_Missense_Mutation_p.R389M|ZNF185_ENST00000318529.8_Missense_Mutation_p.R165M|ZNF185_ENST00000318504.7_Missense_Mutation_p.R327M|ZNF185_ENST00000370270.2_Missense_Mutation_p.R418M|ZNF185_ENST00000535861.1_Missense_Mutation_p.R418M			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	386						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTGATAGGAAGAGCAAC	0.572																																																	0													47	49	48					X																	152106656		2085	4179	6264	SO:0001583	missense	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1157G>T	X.37:g.152106656G>T	ENSP00000359291:p.Arg386Met		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.R418M	ENST00000370268.4	37	c.1253	CCDS48184.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.717|9.717	1.158689|1.158689	0.21454|0.21454	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731|ENST00000426821;ENST00000447088;ENST00000447792	T;T;T;T;T|.	0.51071|.	0.72;0.73;0.76;0.79;0.78|.	3.52|3.52	2.65|2.65	0.31530|0.31530	.|.	0.507607|.	0.16081|.	N|.	0.230493|.	T|.	0.33556|.	0.0867|.	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D;D;D|.	0.62365|.	0.986;0.986;0.965;0.986;0.986;0.986;0.983;0.991|.	P;P;P;P;P;P;P;P|.	0.59288|.	0.742;0.794;0.634;0.855;0.742;0.742;0.847;0.725|.	T|.	0.20638|.	-1.0269|.	10|.	0.56958|.	D|.	0.05|.	-0.3082|-0.3082	6.1062|6.1062	0.20075|0.20075	0.1444:0.0:0.8556:0.0|0.1444:0.0:0.8556:0.0	.|.	387;327;357;389;418;386;165;149|.	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;F8W8V7;O15231-2|.	.;.;.;.;.;ZN185_HUMAN;.;.|.	M|Y	418;389;387;327;221;154;252;386;165;149;91|171;203;120	ENSP00000440847:R418M;ENSP00000444367:R389M;ENSP00000395228:R387M;ENSP00000312782:R327M;ENSP00000359291:R386M|.	ENSP00000312782:R327M|.	R|X	+|+	2|3	0|2	ZNF185|ZNF185	151857312|151857312	0.439000|0.439000	0.25610|0.25610	0.235000|0.235000	0.24058|0.24058	0.105000|0.105000	0.19272|0.19272	0.359000|0.359000	0.20233|0.20233	0.856000|0.856000	0.35383|0.35383	0.600000|0.600000	0.82982|0.82982	AGG|TAG	ZNF185	-	NULL		0.572	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	G	NM_007150		152106656	1	no_errors	ENST00000535861	ensembl	human	known	70_37	missense	SNP	0.215	T	T	152106656	G	T	152106656	3	4	193	1	0	0	0	0	1	0	0	0	17782	1000	35	4	1333	4	ZNF185	23	152106656	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1757907	152106656	3163904	455	37115										
TKTL1	8277	genome.wustl.edu	37	chrX	153524225	153524225	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.566371681415929	256	1.73728738765696e-103	4.33321100917431	5.07798165137615	3.99860390905465	1.73358418527761e-09	4.80450474205509e-08	197	ttggactaatggcggatgctGaggcgagggctgagttcccg	17	8	0	2			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:153524225G>A	ENST00000369915.3	+	1	202	c.13G>A	c.(13-15)Gag>Aag	p.E5K	TEX28_ENST00000369926.1_5'Flank|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	5					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCGGATGCTGAGGCGAGGGC	0.612																																																	0													83	74	77					X																	153524225		2203	4300	6503	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.13G>A	X.37:g.153524225G>A	ENSP00000358931:p.Glu5Lys		A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.E5K	ENST00000369915.3	37	c.13	CCDS35448.1	X	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988505	0.35036	.	.	ENSG00000007350	ENST00000369915	T	0.30714	1.52	3.27	1.99	0.26369	.	0.000000	0.34133	N	0.004234	T	0.13243	0.0321	N	0.14661	0.345	0.21861	N	0.999503	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.30534	-0.9975	10	0.09084	T	0.74	.	6.6811	0.23121	0.2003:0.0:0.7997:0.0	.	5;5	B7Z7I0;P51854	.;TKTL1_HUMAN	K	5	ENSP00000358931:E5K	ENSP00000358931:E5K	E	+	1	0	TKTL1	153177419	0.032000	0.19561	0.003000	0.11579	0.026000	0.11368	2.742000	0.47434	0.478000	0.27488	0.529000	0.55759	GAG	TKTL1	-	NULL		0.612	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	G	NM_012253		153524225	1	no_errors	ENST00000369915	ensembl	human	known	70_37	missense	SNP	0.024	A	A	153524225	G	A	153524225	3	1	193	1	0	0	0	0	1	0	0	0	15965	1291	45	1	15	1	TKTL1	23	153524225	Missense_Mutation	SNP	G	TCGA-UC-A7PF-01A-11D-A351-09	1417569	153524225	1746335	456	37116										
GPR153	387509	genome.wustl.edu	37	chr1	6311456	6311456	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cacttctcccggacagctttGaggtcagcccggtagcggtc	12	14	2	1	rs373529758		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:6311456G>C	ENST00000377893.2	-	4	1180	c.921C>G	c.(919-921)ctC>ctG	p.L307L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGACAGCTTTGAGGTCAGCCC	0.657																																																	0								G		0,4406		0,0,2203	76	76	76		921	5.5	1	1		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR153	NM_207370.2		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		307/610	6311456	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.921C>G	1.37:g.6311456G>C			Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.L307	ENST00000377893.2	37	c.921	CCDS64.1	1																																																																																			GPR153	-	NULL		0.657	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6311456	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	silent	SNP	1.000	C	C	6311456	G	C	6311456	2	2	194	1	0	0	0	0	0	0	0	1	6678	1277	45	1		1	GPR153	1	6311456	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09		6311456	242939165	1	37117			1	146		3	3	3451	G		8.0003e-05
GPR153	387509	genome.wustl.edu	37	chr1	6311556	6311556	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	agagtgccatccagggcgctGaggcgtcggcccgcaggctg	17	13	0	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:6311556G>A	ENST00000377893.2	-	4	1080	c.821C>T	c.(820-822)tCa>tTa	p.S274L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S274L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCAGGGCGCTGAGGCGTCGGC	0.697																																																	1	Substitution - Missense(1)	lung(1)											30	29	30					1																	6311556		2202	4299	6501	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.821C>T	1.37:g.6311556G>A	ENSP00000367125:p.Ser274Leu		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.S274L	ENST00000377893.2	37	c.821	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389266	0.82902	.	.	ENSG00000158292	ENST00000377893	T	0.70631	-0.5	5.15	5.15	0.70609	.	0.180872	0.49916	D	0.000126	T	0.60805	0.2297	N	0.24115	0.695	0.44417	D	0.997338	P	0.38223	0.623	B	0.41299	0.353	T	0.65804	-0.6079	10	0.66056	D	0.02	-13.5142	12.6439	0.56723	0.0:0.0:0.8345:0.1655	.	274	Q6NV75	GP153_HUMAN	L	274	ENSP00000367125:S274L	ENSP00000367125:S274L	S	-	2	0	GPR153	6234143	1.000000	0.71417	0.177000	0.23020	0.981000	0.71138	7.800000	0.85949	2.561000	0.86390	0.643000	0.83706	TCA	GPR153	-	pfam_GPCR_Rhodpsn		0.697	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6311556	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	missense	SNP	0.985	A	A	6311556	G	A	6311556	3	1	194	1	0	0	0	0	1	0	0	0	6678	1294	45	1	1020	1	GPR153	1	6311556	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	100	6311556	242939065	2	37118			1	146		3	3	3451	G		8.0003e-05
GPR153	387509	genome.wustl.edu	37	chr1	6314906	6314906	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	caggcattggccagcagggaGaggcccccacataccagcca	12	15	0	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:6314906G>C	ENST00000377893.2	-	2	319	c.60C>G	c.(58-60)ctC>ctG	p.L20L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCAGCAGGGAGAGGCCCCCAC	0.647																																																	0													40	45	43					1																	6314906		2203	4300	6503	SO:0001819	synonymous_variant	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.60C>G	1.37:g.6314906G>C			Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.L20	ENST00000377893.2	37	c.60	CCDS64.1	1																																																																																			GPR153	-	prints_GPCR_153/162		0.647	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6314906	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	silent	SNP	1.000	C	C	6314906	G	C	6314906	2	2	194	1	0	0	0	0	0	0	0	1	6678	929	33	1		1	GPR153	1	6314906	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	3350	6314906	242935715	3	37119			1	146		3	3	3451	G		8.0003e-05
EPHB2	2048	genome.wustl.edu	37	chr1	23110978	23110978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	caagccagaacaactggctaCggaccaagtttatccggcgc	10	13	0	1	rs372282301		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:23110978C>T	ENST00000400191.3	+	3	238	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	EPHB2_ENST00000374630.3_Missense_Mutation_p.R74W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R74W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R68W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R74W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	74	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAACTGGCTACGGACCAAGTT	0.587																																																	0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	77	68	71		220,220	5.2	1	1		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHB2	NM_004442.6,NM_017449.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	74/988,74/987	23110978	1,13005	2203	4300	6503	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.220C>T	1.37:g.23110978C>T	ENSP00000383053:p.Arg74Trp		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R74W	ENST00000400191.3	37	c.220		1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865533	0.91511	0.0	1.16E-4	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	0.967;1.0;1.0;0.999	P;D;D;D	0.72338	0.614;0.977;0.977;0.921	T	0.01500	-1.1339	10	0.87932	D	0	.	17.4346	0.87548	0.0:1.0:0.0:0.0	.	74;74;92;74	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	74;74;74;74;74;68	ENSP00000444174:R74W;ENSP00000363761:R74W;ENSP00000383053:R74W;ENSP00000363763:R74W;ENSP00000363758:R68W	ENSP00000363755:R74W	R	+	1	2	EPHB2	22983565	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.770000	0.68873	2.704000	0.92352	0.484000	0.47621	CGG	EPHB2	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.587	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	C	NM_017449		23110978	1	no_errors	ENST00000400191	ensembl	human	known	70_37	missense	SNP	1.000	T	T	23110978	C	T	23110978	3	4	194	1	0	0	0	0	1	0	0	0	5187	527	19	2	230	2	EPHB2	1	23110978	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	16796072	23110978	226139643	4	37120										
SESN2	83667	genome.wustl.edu	37	chr1	28601431	28601431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	aagttccaggcagcctatagCctcacctacaataccatcgc	6	15	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:28601431C>T	ENST00000253063.3	+	8	1437	c.1116C>T	c.(1114-1116)agC>agT	p.S372S		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	372					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCTATAGCCTCACCTACA	0.557																																																	0													115	94	101					1																	28601431		2203	4300	6503	SO:0001819	synonymous_variant	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1116C>T	1.37:g.28601431C>T			Q5T7D0|Q96SI5	Silent	SNP	pfam_PA26	p.S372	ENST00000253063.3	37	c.1116	CCDS321.1	1																																																																																			SESN2	-	pfam_PA26		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	C			28601431	1	no_errors	ENST00000253063	ensembl	human	known	70_37	silent	SNP	1.000	T	T	28601431	C	T	28601431	2	4	194	1	0	0	0	0	0	0	0	1	14155	738	26	4		4	SESN2	1	28601431	Silent	SNP	C	TCGA-WL-A834-01A-11D-A351-09	5490453	28601431	220649190	5	37121										
UTP11L	51118	genome.wustl.edu	37	chr1	38484134	38484134	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	atcttttaaatttggattttAggatggagtacatattatta	7	2	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:38484134A>G	ENST00000373014.4	+	4	289		c.e4-1		UTP11L_ENST00000488453.1_Splice_Site|UTP11L_ENST00000537711.1_Splice_Site	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)						nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTTGGATTTTAGGATGGAGTA	0.353																																																	0													58	66	63					1																	38484134		2201	4299	6500	SO:0001630	splice_region_variant	51118			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.229-1A>G	1.37:g.38484134A>G			A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Splice_Site	SNP	-	e4-2	ENST00000373014.4	37	c.229-2	CCDS429.1	1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160610	0.78226	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3021	0.82825	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP11L	38256721	1.000000	0.71417	0.988000	0.46212	0.903000	0.53119	8.025000	0.88777	2.326000	0.78906	0.533000	0.62120	.	UTP11L	-	-		0.353	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP11L	HGNC	protein_coding	OTTHUMT00000012962.1	A	NM_016037	Intron	38484134	1	no_errors	ENST00000373014	ensembl	human	known	70_37	splice_site	SNP	0.999	G	G	38484134	A	G	38484134	5	3	194	1	0	0	0	0	0	0	1	0	17125	434	15	5	241	5	UTP11L	1	38484134	Splice_Site	SNP	A	TCGA-WL-A834-01A-11D-A351-09	9882703	38484134	210766487	6	37122										
SLC2A1	6513	genome.wustl.edu	37	chr1	43396313	43396313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ttacctgggcgatgaggatgCcgacgacgatgcccagctgg	15	11	0	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:43396313C>A	ENST00000426263.3	-	4	678	c.500G>T	c.(499-501)gGc>gTc	p.G167V	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.G167V	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	167					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GATGAGGATGCCGACGACGAT	0.657																																																	0													23	23	23					1																	43396313		2203	4298	6501	SO:0001583	missense	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.500G>T	1.37:g.43396313C>A	ENSP00000416293:p.Gly167Val		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.G167V	ENST00000426263.3	37	c.500	CCDS477.1	1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534067	0.64972	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722;ENST00000372500	D;D;D	0.90788	-2.73;-2.73;-2.73	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	H	0.99825	4.815	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.99568	1.0970	10	0.87932	D	0	.	16.6986	0.85342	0.0:1.0:0.0:0.0	.	167	P11166	GTR1_HUMAN	V	167;167;132;72;167	ENSP00000416293:G167V;ENSP00000395521:G72V;ENSP00000361578:G167V	ENSP00000361578:G167V	G	-	2	0	SLC2A1	43168900	1.000000	0.71417	0.999000	0.59377	0.355000	0.29361	7.487000	0.81328	2.534000	0.85438	0.555000	0.69702	GGC	SLC2A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.657	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	C	NM_006516		43396313	-1	no_errors	ENST00000426263	ensembl	human	known	70_37	missense	SNP	1.000	A	A	43396313	C	A	43396313	3	1	194	1	0	0	0	0	1	0	0	0	14568	739	26	4	1006	4	SLC2A1	1	43396313	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	4912179	43396313	205854308	7	37123										
CDC14A	8556	genome.wustl.edu	37	chr1	100949940	100949940	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	aagtattaataaaattctttCtggcctagatgatatgtcta	6	5	3	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:100949940C>G	ENST00000336454.3	+	11	1425	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000544534.1_Missense_Mutation_p.S357C|CDC14A_ENST00000370124.3_Missense_Mutation_p.S357C|CDC14A_ENST00000361544.6_Missense_Mutation_p.S357C|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.S299C	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	357					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AAAATTCTTTCTGGCCTAGAT	0.363																																																	0													68	69	68					1																	100949940		2203	4300	6503	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1070C>G	1.37:g.100949940C>G	ENSP00000336739:p.Ser357Cys		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S357C	ENST00000336454.3	37	c.1070	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450206	0.43531	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T	0.11821	2.74;2.75;2.81;2.92;2.75	5.65	5.65	0.86999	.	0.275870	0.41712	D	0.000832	T	0.12050	0.0293	M	0.72894	2.215	0.47245	D	0.999368	B;B;B;B;B	0.28760	0.221;0.141;0.141;0.221;0.061	B;B;B;B;B	0.30179	0.112;0.052;0.03;0.112;0.031	T	0.01172	-1.1429	10	0.54805	T	0.06	-15.1388	16.6441	0.85172	0.0:1.0:0.0:0.0	.	299;357;357;357;357	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	C	299;357;357;357;357	ENSP00000442640:S299C;ENSP00000354916:S357C;ENSP00000359142:S357C;ENSP00000336739:S357C;ENSP00000442543:S357C	ENSP00000336739:S357C	S	+	2	0	CDC14A	100722528	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	3.074000	0.50065	2.658000	0.90341	0.555000	0.69702	TCT	CDC14A	-	NULL		0.363	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1	C	NM_033312		100949940	1	no_errors	ENST00000361544	ensembl	human	known	70_37	missense	SNP	1.000	G	G	100949940	C	G	100949940	3	3	194	1	0	0	0	0	1	0	0	0	3061	913	32	1	1112	1	CDC14A	1	100949940	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	57553627	100949940	148300681	8	37124										
ATP1A1	476	genome.wustl.edu	37	chr1	116933017	116933017	+	Frame_Shift_Del	DEL	G	G	-													0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	caaatccatgaagctgatacGacagagaatcagagtggtaa							TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:116933017delG	ENST00000295598.5	+	9	1458	c.1206delG	c.(1204-1206)acgfs	p.T403fs	ATP1A1_ENST00000369496.4_Frame_Shift_Del_p.T372fs|ATP1A1_ENST00000537345.1_Frame_Shift_Del_p.T403fs	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	403					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AAGCTGATACGACAGAGAATC	0.453																																																	0													61	60	60					1																	116933017		2203	4300	6503	SO:0001589	frameshift_variant	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1206delG	1.37:g.116933017delG	ENSP00000295598:p.Thr403fs		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.T403fs	ENST00000295598.5	37	c.1206	CCDS887.1	1																																																																																			ATP1A1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.453	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	G	NM_001160233		116933017	1	no_errors	ENST00000295598	ensembl	human	known	70_37	frame_shift_del	DEL	0.946	-	-	116933017	G	-	116933017	7	5	194	1	0	1	0	1	0	0	0	0	1129	1045	37	0	1256	0	ATP1A1	1	116933017	Frame_Shift_Del	DEL	G	TCGA-WL-A834-01A-11D-A351-09	15983077	116933017	132317604	9	37125										
TXNIP	10628	genome.wustl.edu	37	chr1	145439808	145439808	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	acatccttcaaaggaaaataTgggtgtgtagactactgggt	11	6	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:145439808T>C	ENST00000369317.4	+	3	688	c.354T>C	c.(352-354)taT>taC	p.Y118Y	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	118					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGGAAAATATGGGTGTGTAG	0.433																																																	0													93	96	95					1																	145439808		2203	4300	6503	SO:0001819	synonymous_variant	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.354T>C	1.37:g.145439808T>C			B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.Y118	ENST00000369317.4	37	c.354	CCDS913.1	1																																																																																			TXNIP	-	pfam_Arrestin-like_N,superfamily_Ig_E-set		0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	T	NM_006472		145439808	1	no_errors	ENST00000369317	ensembl	human	known	70_37	silent	SNP	1.000	C	C	145439808	T	C	145439808	2	2	194	1	0	0	0	0	0	0	0	1	16834	1471	51	5		5	TXNIP	1	145439808	Silent	SNP	T	TCGA-WL-A834-01A-11D-A351-09	28506791	145439808	103810813	10	37126										
HSD17B7	51478	genome.wustl.edu	37	chr1	162766467	162766467	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tttctttggcctcttttcaaGgtaattttcgttttatggat	7	6	3	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:162766467G>T	ENST00000254521.3	+	3	387	c.332G>T	c.(331-333)aGa>aTa	p.R111I	HSD17B7_ENST00000367917.3_Splice_Site_p.R111I|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_Splice_Site_p.S111I	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	111					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					CTCTTTTCAAGGTAATTTTCG	0.378																																																	0													125	103	110					1																	162766467		2203	4300	6503	SO:0001630	splice_region_variant	51478			AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.332+1G>T	1.37:g.162766467G>T			Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.R111I	ENST00000254521.3	37	c.332	CCDS1242.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.95|17.95	3.513739|3.513739	0.64522|0.64522	.|.	.|.	ENSG00000132196|ENSG00000132196	ENST00000367917;ENST00000254521|ENST00000367913	D;T|T	0.86497|0.78364	-2.13;-1.14|-1.17	4.79|4.79	4.79|4.79	0.61399|0.61399	NAD(P)-binding domain (1);|.	0.139173|.	0.64402|.	D|.	0.000004|.	T|T	0.68467|0.68467	0.3004|0.3004	L|L	0.32530|0.32530	0.975|0.975	0.80722|.	D|.	1.000000|.	D|.	0.54964|.	0.969|.	P|.	0.54706|.	0.759|.	T|T	0.68569|0.68569	-0.5374|-0.5374	9|5	0.72032|.	D|.	0.01|.	-42.5216|-42.5216	16.8254|16.8254	0.85929|0.85929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	111|.	P56937|.	DHB7_HUMAN|.	I|I	111|111	ENSP00000356894:R111I;ENSP00000254521:R111I|ENSP00000356889:S111I	ENSP00000254521:R111I|.	R|S	+|+	2|2	0|0	HSD17B7|HSD17B7	161033091|161033091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	9.092000|9.092000	0.94157|0.94157	2.351000|2.351000	0.79841|0.79841	0.644000|0.644000	0.83932|0.83932	AGA|AGC	HSD17B7	-	NULL		0.378	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B7	HGNC	protein_coding	OTTHUMT00000083207.1	G	NM_016371	Missense_Mutation	162766467	1	no_errors	ENST00000254521	ensembl	human	known	70_37	missense	SNP	1.000	T	T	162766467	G	T	162766467	5	4	194	1	0	0	0	0	0	0	1	0	7408	1014	35	4	342	4	HSD17B7	1	162766467	Splice_Site	SNP	G	TCGA-WL-A834-01A-11D-A351-09	17326659	162766467	86484154	11	37127										
INTS7	25896	genome.wustl.edu	37	chr1	212180086	212180086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ctgggatcattcttcaaataCtgcaacagaagctgaatcta	7	9	4	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:212180086C>T	ENST00000366994.3	-	7	878	c.774G>A	c.(772-774)caG>caA	p.Q258Q	INTS7_ENST00000440600.2_Silent_p.Q209Q|INTS7_ENST00000366992.3_Silent_p.Q258Q|INTS7_ENST00000366993.3_Silent_p.Q258Q|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	258					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.Q258Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TCTTCAAATACTGCAACAGAA	0.338																																																	1	Substitution - coding silent(1)	lung(1)											120	123	122					1																	212180086		2203	4300	6503	SO:0001819	synonymous_variant	25896			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.774G>A	1.37:g.212180086C>T			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	superfamily_ARM-type_fold	p.Q258	ENST00000366994.3	37	c.774	CCDS1501.1	1																																																																																			INTS7	-	superfamily_ARM-type_fold		0.338	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	C	NM_015434		212180086	-1	no_errors	ENST00000366994	ensembl	human	known	70_37	silent	SNP	1.000	T	T	212180086	C	T	212180086	2	4	194	1	0	0	0	0	0	0	0	1	7803	564	20	4		4	INTS7	1	212180086	Silent	SNP	C	TCGA-WL-A834-01A-11D-A351-09	49413619	212180086	37070535	12	37128										
USH2A	7399	genome.wustl.edu	37	chr1	216348638	216348638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gagtggagctgggaaatttaCaatacccatttcctatgaaa	9	7	0	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:216348638C>T	ENST00000307340.3	-	21	4969	c.4583G>A	c.(4582-4584)tGt>tAt	p.C1528Y	USH2A_ENST00000366943.2_Missense_Mutation_p.C1528Y|USH2A_ENST00000366942.3_Missense_Mutation_p.C1528Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1528	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGAAATTTACAATACCCATT	0.428										HNSCC(13;0.011)																																							0													90	68	75					1																	216348638		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4583G>A	1.37:g.216348638C>T	ENSP00000305941:p.Cys1528Tyr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.C1528Y	ENST00000307340.3	37	c.4583	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	1.546	-0.540448	0.04053	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.78707	-1.2;-1.2;2.32	5.89	-1.68	0.08212	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (1);	0.345703	0.20827	N	0.084959	T	0.44286	0.1286	N	0.03177	-0.4	0.27334	N	0.956692	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44952	-0.9294	10	0.02654	T	1	.	7.4287	0.27115	0.1154:0.2753:0.0:0.6093	.	1528;1528	O75445-2;O75445	.;USH2A_HUMAN	Y	1528	ENSP00000305941:C1528Y;ENSP00000355910:C1528Y;ENSP00000355909:C1528Y	ENSP00000305941:C1528Y	C	-	2	0	USH2A	214415261	0.247000	0.23920	0.133000	0.22050	0.967000	0.64934	-0.144000	0.10280	-0.169000	0.10834	0.637000	0.83480	TGT	USH2A	-	superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_Laminin_G		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216348638	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.495	T	T	216348638	C	T	216348638	3	4	194	1	0	0	0	0	1	0	0	0	17067	478	17	4	11247	4	USH2A	1	216348638	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	4168552	216348638	32901983	13	37129										
SIPA1L2	57568	genome.wustl.edu	37	chr1	232600891	232600891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cttccttggctttaccttctCctttttcttcgcacccagcg	5	16	2	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:232600891C>T	ENST00000366630.1	-	8	2873	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E839K|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	839					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTACCTTCTCCTTTTTCTTC	0.517																																																	0													132	128	129					1																	232600891		1989	4165	6154	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2515G>A	1.37:g.232600891C>T	ENSP00000355589:p.Glu839Lys		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E839K	ENST00000366630.1	37	c.2515	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.380682	0.95945	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.50277	0.75;0.75	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74163	-0.3754	10	0.87932	D	0	-38.6976	20.053	0.97634	0.0:1.0:0.0:0.0	.	839	Q9P2F8	SI1L2_HUMAN	K	839	ENSP00000355589:E839K;ENSP00000262861:E839K	ENSP00000262861:E839K	E	-	1	0	SIPA1L2	230667514	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	GAG	SIPA1L2	-	NULL		0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839		232600891	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	1.000	T	T	232600891	C	T	232600891	3	4	194	1	0	0	0	0	1	0	0	0	14360	864	30	1	2713	1	SIPA1L2	1	232600891	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	16252253	232600891	16649730	14	37130										
RYR2	6262	genome.wustl.edu	37	chr1	237880502	237880502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tctctttgttccataggcagCtgtttctgatcaggaaagga	10	8	3	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:237880502C>A	ENST00000366574.2	+	72	10645	c.10328C>A	c.(10327-10329)gCt>gAt	p.A3443D	RYR2_ENST00000360064.6_Missense_Mutation_p.A3441D|RYR2_ENST00000542537.1_Missense_Mutation_p.A3427D|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3443					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCATAGGCAGCTGTTTCTGAT	0.453																																																	0													57	59	59					1																	237880502		1912	4118	6030	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10328C>A	1.37:g.237880502C>A	ENSP00000355533:p.Ala3443Asp		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A3441D	ENST00000366574.2	37	c.10322	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193252	0.38707	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96885	-4.16;-4.13;-4.15	5.34	5.34	0.76211	.	0.182860	0.36338	N	0.002654	D	0.91693	0.7374	N	0.19112	0.55	0.80722	D	1	P	0.48640	0.913	B	0.38562	0.276	D	0.92987	0.6411	10	0.72032	D	0.01	-11.033	14.9647	0.71182	0.0:0.8577:0.1423:0.0	.	3443	Q92736	RYR2_HUMAN	D	3443;3441;3427;398	ENSP00000355533:A3443D;ENSP00000353174:A3441D;ENSP00000443798:A3427D	ENSP00000353174:A3441D	A	+	2	0	RYR2	235947125	1.000000	0.71417	0.994000	0.49952	0.609000	0.37215	4.159000	0.58157	2.667000	0.90743	0.655000	0.94253	GCT	RYR2	-	NULL		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237880502	1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.981	A	A	237880502	C	A	237880502	3	1	194	1	0	0	0	0	1	0	0	0	13799	797	28	4	10614	4	RYR2	1	237880502	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	5279611	237880502	11370119	15	37131										
OR2T34	127068	genome.wustl.edu	37	chr1	248737420	248737420	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gagatgaccatgatgggggtGagaagcatgaggatgcagca	17	5	0	5			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:248737420G>T	ENST00000328782.2	-	1	660	c.639C>A	c.(637-639)ctC>ctA	p.L213L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGGGGGTGAGAAGCATGA	0.552																																																	0													195	210	205					1																	248737420		2113	4300	6413	SO:0001819	synonymous_variant	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.639C>A	1.37:g.248737420G>T			B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L213	ENST00000328782.2	37	c.639	CCDS31120.1	1																																																																																			OR2T34	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	G	NM_001001821		248737420	-1	no_errors	ENST00000328782	ensembl	human	known	70_37	silent	SNP	0.001	T	T	248737420	G	T	248737420	2	4	194	1	0	0	0	0	0	0	0	1	11049	1277	45	3		3	OR2T34	1	248737420	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	10856918	248737420	513201	16	37132										
SOX11	6664	genome.wustl.edu	37	chr2	5833062	5833062	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	acgcaggaagatcatggagcAgtctccggacatgcacaacg	12	11	2	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:5833062A>C	ENST00000322002.3	+	1	264	c.209A>C	c.(208-210)cAg>cCg	p.Q70P	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	70					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		ATCATGGAGCAGTCTCCGGAC	0.592																																																	0													72	65	67					2																	5833062		2203	4300	6503	SO:0001583	missense	6664				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.209A>C	2.37:g.5833062A>C	ENSP00000322568:p.Gln70Pro		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.Q70P	ENST00000322002.3	37	c.209	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018597	0.75275	.	.	ENSG00000176887	ENST00000322002	D	0.98120	-4.73	3.16	3.16	0.36331	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000009	D	0.98381	0.9462	M	0.82056	2.57	0.80722	D	1	D	0.57571	0.98	D	0.76575	0.988	D	0.98753	1.0721	10	0.72032	D	0.01	.	11.6889	0.51503	1.0:0.0:0.0:0.0	.	70	P35716	SOX11_HUMAN	P	70	ENSP00000322568:Q70P	ENSP00000322568:Q70P	Q	+	2	0	SOX11	5750513	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.867000	0.92314	1.192000	0.43071	0.391000	0.25812	CAG	SOX11	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily		0.592	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	A	NM_003108		5833062	1	no_errors	ENST00000322002	ensembl	human	known	70_37	missense	SNP	1.000	C	C	5833062	A	C	5833062	3	2	194	1	0	0	0	0	1	0	0	0	14972	188	7	5	211	5	SOX11	2	5833062	Missense_Mutation	SNP	A	TCGA-WL-A834-01A-11D-A351-09		5833062	237366311	17	37133										
PAIP2B	400961	genome.wustl.edu	37	chr2	71417103	71417103	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gtcttcttcatccagcatctCttggaagcagcggtccaaga	9	12	4	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:71417103C>G	ENST00000244221.8	-	3	353	c.187G>C	c.(187-189)Gag>Cag	p.E63Q		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	63					negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)	translation repressor activity, nucleic acid binding (GO:0000900)			large_intestine(1)|lung(1)	2						TCCAGCATCTCTTGGAAGCAG	0.522																																																	0													60	57	58					2																	71417103		1977	4177	6154	SO:0001583	missense	400961				CCDS46322.1	2p13.3	2007-07-16			ENSG00000124374	ENSG00000124374			29200	protein-coding gene	gene with protein product		611018				16804161	Standard	NM_020459		Approved	KIAA1155	uc002shu.2	Q9ULR5	OTTHUMG00000153284	ENST00000244221.8:c.187G>C	2.37:g.71417103C>G	ENSP00000244221:p.Glu63Gln			Missense_Mutation	SNP	pfam_Ataxin-2_C	p.E63Q	ENST00000244221.8	37	c.187	CCDS46322.1	2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796229	0.90453	.	.	ENSG00000124374	ENST00000244221	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75560	-0.3275	9	0.39692	T	0.17	-20.5855	17.2281	0.86977	0.0:1.0:0.0:0.0	.	63	Q9ULR5	PAI2B_HUMAN	Q	63	.	ENSP00000244221:E63Q	E	-	1	0	PAIP2B	71270611	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.150000	0.77403	2.660000	0.90430	0.467000	0.42956	GAG	PAIP2B	-	NULL		0.522	PAIP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAIP2B	HGNC	protein_coding	OTTHUMT00000330547.2	C	XM_376062		71417103	-1	no_errors	ENST00000244221	ensembl	human	known	70_37	missense	SNP	1.000	G	G	71417103	C	G	71417103	3	3	194	1	0	0	0	0	1	0	0	0	11422	922	32	1	192	1	PAIP2B	2	71417103	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	65584041	71417103	171782270	18	37134										
NCKAP5	344148	genome.wustl.edu	37	chr2	133540060	133540060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	agaagtttctagcttggatgTactgcttgtttcaaaagtgc	10	6	2	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:133540060T>C	ENST00000409261.1	-	14	4697	c.4324A>G	c.(4324-4326)Aca>Gca	p.T1442A	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1442A|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1442										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCTTGGATGTACTGCTTGTT	0.557																																																	0													50	50	50					2																	133540060		1935	4130	6065	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4324A>G	2.37:g.133540060T>C	ENSP00000387128:p.Thr1442Ala		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.T1442A	ENST00000409261.1	37	c.4324	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	4.156	0.027486	0.08054	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09538	2.97;2.97	5.5	0.396	0.16309	.	0.659621	0.12450	U	0.467865	T	0.04003	0.0112	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.43327	-0.9398	10	0.08179	T	0.78	.	0.6064	0.00753	0.2013:0.2709:0.1386:0.3892	.	1442	O14513	NCKP5_HUMAN	A	1442	ENSP00000387128:T1442A;ENSP00000380603:T1442A	ENSP00000380603:T1442A	T	-	1	0	NCKAP5	133256530	0.000000	0.05858	0.547000	0.28179	0.557000	0.35523	0.204000	0.17335	0.153000	0.19213	0.533000	0.62120	ACA	NCKAP5	-	NULL		0.557	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	T	NM_207481		133540060	-1	no_errors	ENST00000317721	ensembl	human	known	70_37	missense	SNP	0.000	C	C	133540060	T	C	133540060	3	2	194	1	0	0	0	0	1	0	0	0	10247	1638	57	5	1433	5	NCKAP5	2	133540060	Missense_Mutation	SNP	T	TCGA-WL-A834-01A-11D-A351-09	62122957	133540060	109659313	19	37135										
LCT	3938	genome.wustl.edu	37	chr2	136575262	136575262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cgggaccaggagatggagaaCttgtacacctgagcccggag	15	10	0	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:136575262C>A	ENST00000264162.2	-	6	1366	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	452	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGATGGAGAACTTGTACACCT	0.627																																																	0													64	60	61					2																	136575262		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1356G>T	2.37:g.136575262C>A	ENSP00000264162:p.Lys452Asn		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.K452N	ENST00000264162.2	37	c.1356	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	c	18.93	3.726876	0.69074	.	.	ENSG00000115850	ENST00000264162	T	0.54479	0.57	5.77	0.299	0.15771	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159421	0.56097	D	0.000025	T	0.64193	0.2576	M	0.76574	2.34	0.41351	D	0.987362	D	0.64830	0.994	D	0.65140	0.932	T	0.62378	-0.6867	10	0.72032	D	0.01	-14.3799	7.4499	0.27231	0.0:0.493:0.1049:0.4021	.	452	P09848	LPH_HUMAN	N	452	ENSP00000264162:K452N	ENSP00000264162:K452N	K	-	3	2	LCT	136291732	0.116000	0.22171	0.993000	0.49108	0.974000	0.67602	-0.383000	0.07398	-0.157000	0.11059	-0.119000	0.15052	AAG	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.627	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	C	NM_002299		136575262	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	missense	SNP	0.998	A	A	136575262	C	A	136575262	3	1	194	1	0	0	0	0	1	0	0	0	8713	564	20	4	4475	4	LCT	2	136575262	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	3035202	136575262	106624111	20	37136										
LRP2	4036	genome.wustl.edu	37	chr2	170060692	170060692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cagtccagtaaatatactggCcatagagagtcaagccaaaa	8	9	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:170060692C>T	ENST00000263816.3	-	42	8090	c.7805G>A	c.(7804-7806)gGc>gAc	p.G2602D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2602					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AATATACTGGCCATAGAGAGT	0.453																																																	0													153	163	160					2																	170060692		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7805G>A	2.37:g.170060692C>T	ENSP00000263816:p.Gly2602Asp		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G2602D	ENST00000263816.3	37	c.7805	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	8.652	0.898577	0.17686	.	.	ENSG00000081479	ENST00000263816	D	0.90732	-2.72	5.78	2.48	0.30137	Six-bladed beta-propeller, TolB-like (1);	0.239125	0.43579	N	0.000559	T	0.78336	0.4267	N	0.17901	0.54	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.64097	-0.6487	10	0.10636	T	0.68	.	5.5548	0.17111	0.0:0.3792:0.0:0.6208	.	2602	P98164	LRP2_HUMAN	D	2602	ENSP00000263816:G2602D	ENSP00000263816:G2602D	G	-	2	0	LRP2	169768938	0.950000	0.32346	0.963000	0.40424	0.931000	0.56810	0.445000	0.21677	0.717000	0.32145	0.655000	0.94253	GGC	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170060692	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.999	T	T	170060692	C	T	170060692	3	4	194	1	0	0	0	0	1	0	0	0	8979	739	26	4	6314	4	LRP2	2	170060692	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	33485430	170060692	73138681	21	37137										
DNAH7	56171	genome.wustl.edu	37	chr2	196765060	196765060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	acggctctcattccatagtcGtagtgatgttgagatgacag	11	8	1	3	rs556435193	byFrequency	TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:196765060G>A	ENST00000312428.6	-	28	4594	c.4494C>T	c.(4492-4494)taC>taT	p.Y1498Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1498	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCATAGTCGTAGTGATGTT	0.423													G|||	3	0.000599042	0	0	5008	,	,		18626	0		0	False		,,,				2504	0.0031																0													166	165	165					2																	196765060		1997	4168	6165	SO:0001819	synonymous_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4494C>T	2.37:g.196765060G>A			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.Y1498	ENST00000312428.6	37	c.4494	CCDS42794.1	2																																																																																			DNAH7	-	NULL		0.423	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196765060	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	silent	SNP	0.993	A	A	196765060	G	A	196765060	2	1	194	1	0	0	0	0	0	0	0	1	4616	1140	40	2		2	DNAH7	2	196765060	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	26704368	196765060	46434313	22	37138										
CNTN6	27255	genome.wustl.edu	37	chr3	1424826	1424826	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	aatgaaggagaaggatccctGagtactgtgaccattgtcta	11	7	1	4			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:1424826G>C	ENST00000446702.2	+	18	2994	c.2367G>C	c.(2365-2367)ctG>ctC	p.L789L	CNTN6_ENST00000539053.1_Silent_p.L717L|CNTN6_ENST00000350110.2_Silent_p.L789L			Q9UQ52	CNTN6_HUMAN	contactin 6	789	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGGATCCCTGAGTACTGTGA	0.418																																																	0													134	121	126					3																	1424826		2203	4300	6503	SO:0001819	synonymous_variant	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2367G>C	3.37:g.1424826G>C			Q2KHM2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L789	ENST00000446702.2	37	c.2367	CCDS2557.1	3																																																																																			CNTN6	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	G	NM_014461		1424826	1	no_errors	ENST00000350110	ensembl	human	known	70_37	silent	SNP	1.000	C	C	1424826	G	C	1424826	2	2	194	1	0	0	0	0	0	0	0	1	3650	1277	45	1		1	CNTN6	3	1424826	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09		1424826	196597604	23	37139										
HRH1	3269	genome.wustl.edu	37	chr3	11301558	11301558	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tcttgaagtcaccatcccaaAcccccaaggagatgaaatcc	6	14	2	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:11301558A>T	ENST00000397056.1	+	3	1026	c.835A>T	c.(835-837)Acc>Tcc	p.T279S	HRH1_ENST00000438284.2_Missense_Mutation_p.T279S|HRH1_ENST00000431010.2_Missense_Mutation_p.T279S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	279					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCATCCCAAACCCCCAAGGA	0.498																																																	0													57	63	61					3																	11301558		2203	4300	6503	SO:0001583	missense	3269				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"GPCR / Class A : Histamine receptors"	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.835A>T	3.37:g.11301558A>T	ENSP00000380247:p.Thr279Ser		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt	p.T279S	ENST00000397056.1	37	c.835	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.450369	0.01080	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.65549	-0.16;-0.16;-0.16	5.97	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.697162	0.15161	N	0.277172	T	0.25005	0.0607	N	0.01668	-0.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22765	-1.0207	10	0.08381	T	0.77	-3.9938	3.7847	0.08695	0.2152:0.0996:0.5475:0.1378	.	279	P35367	HRH1_HUMAN	S	279	ENSP00000406705:T279S;ENSP00000397028:T279S;ENSP00000380247:T279S	ENSP00000380247:T279S	T	+	1	0	HRH1	11276558	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.008000	0.13197	0.384000	0.24942	-0.248000	0.11899	ACC	HRH1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	A			11301558	1	no_errors	ENST00000397056	ensembl	human	known	70_37	missense	SNP	0.000	T	T	11301558	A	T	11301558	3	4	194	1	0	0	0	0	1	0	0	0	7375	43	2	5	837	5	HRH1	3	11301558	Missense_Mutation	SNP	A	TCGA-WL-A834-01A-11D-A351-09	9876732	11301558	186720872	24	37140										
COLQ	8292	genome.wustl.edu	37	chr3	15531137	15531137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cgcttcttctgatccaggctGggaagggctgttcagagaaa	13	9	3	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:15531137G>A	ENST00000383788.5	-	2	239	c.114C>T	c.(112-114)ccC>ccT	p.P38P	COLQ_ENST00000383787.2_Silent_p.P38P|COLQ_ENST00000383781.4_Silent_p.P28P|COLQ_ENST00000603808.1_Silent_p.P38P|COLQ_ENST00000383786.5_Silent_p.P38P|COLQ_ENST00000435459.2_Silent_p.P28P|COLQ_ENST00000383785.2_Silent_p.P38P	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	38					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GATCCAGGCTGGGAAGGGCTG	0.607																																																	0													78	60	66					3																	15531137		2203	4300	6503	SO:0001819	synonymous_variant	8292			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen"	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.114C>T	3.37:g.15531137G>A			B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.P38	ENST00000383788.5	37	c.114	CCDS33709.1	3																																																																																			COLQ	-	NULL		0.607	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	G	NM_005677		15531137	-1	no_errors	ENST00000383788	ensembl	human	known	70_37	silent	SNP	0.185	A	A	15531137	G	A	15531137	2	1	194	1	0	0	0	0	0	0	0	1	3718	1335	47	4		4	COLQ	3	15531137	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	4229579	15531137	182491293	25	37141										
FLNB	2317	genome.wustl.edu	37	chr3	58110095	58110095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	taccaccgactttacagttgActctcggccgctgacccagg	9	15	1	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:58110095A>G	ENST00000295956.4	+	22	3926	c.3761A>G	c.(3760-3762)gAc>gGc	p.D1254G	FLNB_ENST00000358537.3_Missense_Mutation_p.D1254G|FLNB_ENST00000419752.2_Missense_Mutation_p.D1085G|FLNB_ENST00000357272.4_Missense_Mutation_p.D1254G|FLNB_ENST00000348383.5_Missense_Mutation_p.D1254G|FLNB_ENST00000429972.2_Missense_Mutation_p.D1254G|FLNB_ENST00000493452.1_Missense_Mutation_p.D1085G|FLNB_ENST00000490882.1_Missense_Mutation_p.D1254G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1254	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTTACAGTTGACTCTCGGCCG	0.567																																																	0													96	91	93					3																	58110095		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3761A>G	3.37:g.58110095A>G	ENSP00000295956:p.Asp1254Gly		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.D1254G	ENST00000295956.4	37	c.3761	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480613	0.84747	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.69	5.69	0.88448	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.996;1.0;0.996;0.996	D;D;D;D;D;D	0.97110	0.998;0.999;0.999;1.0;0.999;0.999	D	0.95659	0.8713	10	0.87932	D	0	.	15.9451	0.79787	1.0:0.0:0.0:0.0	.	1254;1254;1085;1085;1254;1254	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	G	1254;1254;1254;1254;1254;1254;1085;1085	ENSP00000295956:D1254G;ENSP00000420213:D1254G;ENSP00000351339:D1254G;ENSP00000415599:D1254G;ENSP00000232447:D1254G;ENSP00000349819:D1254G;ENSP00000418510:D1085G;ENSP00000414532:D1085G	ENSP00000295956:D1254G	D	+	2	0	FLNB	58085135	1.000000	0.71417	0.488000	0.27440	0.627000	0.37826	8.962000	0.93254	2.177000	0.69029	0.533000	0.62120	GAC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	A	NM_001457		58110095	1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	G	G	58110095	A	G	58110095	3	3	194	1	0	0	0	0	1	0	0	0	5952	275	10	5	3847	5	FLNB	3	58110095	Missense_Mutation	SNP	A	TCGA-WL-A834-01A-11D-A351-09	42578958	58110095	139912335	26	37142										
ROBO1	6091	genome.wustl.edu	37	chr3	78706263	78706263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ctcacccagctggatgaactGaggctcactctttaccccag	8	15	3	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:78706263G>A	ENST00000464233.1	-	18	2712	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q831*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q831*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.Q828*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	867	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGATGAACTGAGGCTCACTC	0.527																																																	0													54	58	57					3																	78706263		2020	4184	6204	SO:0001587	stop_gained	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2599C>T	3.37:g.78706263G>A	ENSP00000420321:p.Gln867*		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q867*	ENST00000464233.1	37	c.2599	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.361639	0.99148	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.	.	.	6.04	6.04	0.98038	.	0.301525	0.37857	N	0.001904	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3674	0.74535	0.0:0.0:0.8606:0.1394	.	.	.	.	X	828;831;867;831;831;871	.	.	Q	-	1	0	ROBO1	78788953	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.639000	0.61361	2.881000	0.98747	0.650000	0.86243	CAG	ROBO1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78706263	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	nonsense	SNP	1.000	A	A	78706263	G	A	78706263	4	1	194	1	0	0	0	0	0	1	0	0	13543	1299	45	1	2412	1	ROBO1	3	78706263	Nonsense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	20596168	78706263	119316167	27	37143										
SLC34A2	10568	genome.wustl.edu	37	chr4	25665934	25665934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ccctggatattcttagtagcGccttccagctggttggaggt	12	10	1	0	rs565847214		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr4:25665934G>A	ENST00000382051.3	+	4	411	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A120T|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A120T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	121					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTTAGTAGCGCCTTCCAGCT	0.463			T	ROS1	NSCLC								G|||	1	0.000199681	8e-04	0	5008	,	,		18346	0		0	False		,,,				2504	0							Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													119	121	120					4																	25665934		2203	4300	6503	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.361G>A	4.37:g.25665934G>A	ENSP00000371483:p.Ala121Thr		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.A121T	ENST00000382051.3	37	c.361	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990996	0.93106	.	.	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.958;0.981	D	0.94710	0.7891	10	0.87932	D	0	-38.1619	19.4396	0.94813	0.0:0.0:1.0:0.0	.	120;121	O95436-2;O95436	.;NPT2B_HUMAN	T	120;120;121;120;121	ENSP00000423038:A120T;ENSP00000425501:A120T;ENSP00000371483:A121T;ENSP00000423021:A120T;ENSP00000424266:A121T	ENSP00000371483:A121T	A	+	1	0	SLC34A2	25275032	1.000000	0.71417	0.990000	0.47175	0.820000	0.46376	9.640000	0.98453	2.678000	0.91216	0.655000	0.94253	GCC	SLC34A2	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.463	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	G	NM_006424		25665934	1	no_errors	ENST00000382051	ensembl	human	known	70_37	missense	SNP	1.000	A	A	25665934	G	A	25665934	3	1	194	1	0	0	0	0	1	0	0	0	14598	1087	38	2	371	2	SLC34A2	4	25665934	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09		25665934	165488342	28	37144										
TMPRSS11A	339967	genome.wustl.edu	37	chr4	68812207	68812207	+	Frame_Shift_Del	DEL	C	C	-													0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	caggagacctatggtcactgCcaccactgtcagggacaaca							TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr4:68812207delC	ENST00000334830.7	-	2	840	c.94delG	c.(94-96)gcafs	p.A32fs	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Frame_Shift_Del_p.A31fs|TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.A32fs			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	32					cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATGGTCACTGCCACCACTGTC	0.433																																					NSCLC(26;2 894 10941 14480 22546)												0													80	72	75					4																	68812207		2203	4300	6503	SO:0001589	frameshift_variant	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.94delG	4.37:g.68812207delC	ENSP00000334611:p.Ala32fs		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Frame_Shift_Del	DEL	pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A32fs	ENST00000334830.7	37	c.94	CCDS3519.1	4																																																																																			TMPRSS11A	-	pirsf_Pept_S1A_HAT/DESC1		0.433	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	C	NM_182606		68812207	-1	no_errors	ENST00000334830	ensembl	human	known	70_37	frame_shift_del	DEL	0.001	-	-	68812207	C	-	68812207	7	5	194	1	0	1	0	1	0	0	0	0	16269	739	26	0	1207	0	TMPRSS11A	4	68812207	Frame_Shift_Del	DEL	C	TCGA-WL-A834-01A-11D-A351-09	43146273	68812207	122342069	29	37145										
CNOT6L	246175	genome.wustl.edu	37	chr4	78695822	78695822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tgtcatttaggtgcagcgctGtcaagtgtgtcaatgaccaa	11	8	3	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr4:78695822G>A	ENST00000504123.1	-	3	306	c.176C>T	c.(175-177)aCa>aTa	p.T59I	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59I			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	59	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GTGCAGCGCTGTCAAGTGTGT	0.423																																																	0													86	81	83					4																	78695822		1969	4180	6149	SO:0001583	missense	246175			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.176C>T	4.37:g.78695822G>A	ENSP00000424896:p.Thr59Ile		Q9UF92	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.T59I	ENST00000504123.1	37	c.176		4	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397744	0.83120	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	L	0.33792	1.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70699	-0.4800	10	0.54805	T	0.06	-14.9073	17.1159	0.86688	0.0:0.0:1.0:0.0	.	59;59	B4E2S0;Q96LI5	.;CNO6L_HUMAN	I	59;59;66;59	ENSP00000424896:T59I;ENSP00000264903:T59I;ENSP00000425571:T66I;ENSP00000426269:T59I	ENSP00000264903:T59I	T	-	2	0	CNOT6L	78914846	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.749000	0.98871	2.071000	0.62044	0.561000	0.74099	ACA	CNOT6L	-	smart_Leu-rich_rpt_typical-subtyp		0.423	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	HGNC	protein_coding	OTTHUMT00000362515.1	G			78695822	-1	no_errors	ENST00000264903	ensembl	human	known	70_37	missense	SNP	1.000	A	A	78695822	G	A	78695822	3	1	194	1	0	0	0	0	1	0	0	0	3628	1377	48	4	1531	4	CNOT6L	4	78695822	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	9883615	78695822	112458454	30	37146										
FRAS1	80144	genome.wustl.edu	37	chr4	79462120	79462120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tgcccaagaggcacccggacCgggtggagaagaacgtgaat	15	10	0	4	rs200693022		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr4:79462120C>T	ENST00000264895.6	+	74	12321	c.11881C>T	c.(11881-11883)Cgg>Tgg	p.R3961W		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3957					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCACCCGGACCGGGTGGAGAA	0.507																																																	0								C	TRP/ARG	0,3788		0,0,1894	76	79	78		11881	0.6	1	4		78	3,8225		0,3,4111	yes	missense	FRAS1	NM_025074.6	101	0,3,6005	TT,TC,CC		0.0365,0.0,0.025	probably-damaging	3961/4013	79462120	3,12013	1894	4114	6008	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11881C>T	4.37:g.79462120C>T	ENSP00000264895:p.Arg3961Trp		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.R3961W	ENST00000264895.6	37	c.11881	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.35|13.35	2.210847|2.210847	0.39102|0.39102	0.0|0.0	3.65E-4|3.65E-4	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.51574	.|0.7	6.08|6.08	0.611|0.611	0.17586|0.17586	.|.	.|0.768149	.|0.12597	.|N	.|0.455026	T|T	0.53530|0.53530	0.1802|0.1802	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.56648	.|0.803	T|T	0.54964|0.54964	-0.8214|-0.8214	5|10	.|0.72032	.|D	.|0.01	.|.	10.3511|10.3511	0.43937|0.43937	0.4749:0.4631:0.062:0.0|0.4749:0.4631:0.062:0.0	.|.	.|3961	.|E9PHH6	.|.	L|W	2189|3961	.|ENSP00000264895:R3961W	.|ENSP00000264895:R3961W	P|R	+|+	2|1	0|2	FRAS1|FRAS1	79681144|79681144	0.999000|0.999000	0.42202|0.42202	0.975000|0.975000	0.42487|0.42487	0.009000|0.009000	0.06853|0.06853	0.885000|0.885000	0.28227|0.28227	0.165000|0.165000	0.19558|0.19558	-1.058000|-1.058000	0.02302|0.02302	CCG|CGG	FRAS1	-	NULL		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		C			79462120	1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.986	T	T	79462120	C	T	79462120	3	4	194	1	0	0	0	0	1	0	0	0	6060	643	23	2	12250	2	FRAS1	4	79462120	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	766298	79462120	111692156	31	37147										
CDH9	1007	genome.wustl.edu	37	chr5	26885962	26885962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	catctttccgagtcatgattCctgctgtattatctggggga	10	9	3	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:26885962C>A	ENST00000231021.4	-	11	1815	c.1643G>T	c.(1642-1644)gGa>gTa	p.G548V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGTCATGATTCCTGCTGTATT	0.323																																					Melanoma(8;187 585 15745 40864 52829)												0													56	59	58					5																	26885962		2203	4300	6503	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1643G>T	5.37:g.26885962C>A	ENSP00000231021:p.Gly548Val		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G548V	ENST00000231021.4	37	c.1643	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440024	0.43326	.	.	ENSG00000113100	ENST00000231021	T	0.17528	2.27	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.265346	0.43747	D	0.000528	T	0.33381	0.0861	L	0.56280	1.765	0.80722	D	1	P;P	0.48764	0.915;0.915	P;P	0.55749	0.783;0.703	T	0.00212	-1.1914	9	.	.	.	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	141;548	B4DFP0;Q9ULB4	.;CADH9_HUMAN	V	548	ENSP00000231021:G548V	.	G	-	2	0	CDH9	26921719	0.989000	0.36119	0.999000	0.59377	0.755000	0.42902	4.071000	0.57556	2.740000	0.93945	0.563000	0.77884	GGA	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.323	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	C	NM_016279		26885962	-1	no_errors	ENST00000231021	ensembl	human	known	70_37	missense	SNP	0.996	A	A	26885962	C	A	26885962	3	1	194	1	0	0	0	0	1	0	0	0	3122	855	30	3	734	3	CDH9	5	26885962	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		26885962	154029298	32	37148										
TARS	6897	genome.wustl.edu	37	chr5	33457395	33457395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	actgggaaggcaaagcagatAtggagactctccagagaatt	12	7	1	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:33457395A>G	ENST00000265112.3	+	9	1182	c.871A>G	c.(871-873)Atg>Gtg	p.M291V	TARS_ENST00000455217.2_Missense_Mutation_p.M324V|TARS_ENST00000502553.1_Missense_Mutation_p.M291V|TARS_ENST00000414361.2_Missense_Mutation_p.M170V|TARS_ENST00000541634.1_Missense_Mutation_p.M187V	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	291					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CAAAGCAGATATGGAGACTCT	0.383																																																	0													115	119	118					5																	33457395		2203	4300	6503	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.871A>G	5.37:g.33457395A>G	ENSP00000265112:p.Met291Val		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.M291V	ENST00000265112.3	37	c.871	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315358	0.60524	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.41758	0.99;0.99;1.0	5.92	5.92	0.95590	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.61703	1.905	0.80722	D	1	B;P;P;P	0.36837	0.137;0.571;0.516;0.571	B;P;B;B	0.46208	0.216;0.507;0.281;0.403	T	0.52487	-0.8569	10	0.49607	T	0.09	1.1921	16.3996	0.83635	1.0:0.0:0.0:0.0	.	170;324;187;291	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	V	291;291;187;324;170	ENSP00000424387:M291V;ENSP00000265112:M291V;ENSP00000387710:M324V	ENSP00000265112:M291V	M	+	1	0	TARS	33493152	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.326000	0.96389	2.275000	0.75901	0.529000	0.55759	ATG	TARS	-	pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa		0.383	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	A	NM_152295		33457395	1	no_errors	ENST00000265112	ensembl	human	known	70_37	missense	SNP	1.000	G	G	33457395	A	G	33457395	3	3	194	1	0	0	0	0	1	0	0	0	15589	449	16	5	905	5	TARS	5	33457395	Missense_Mutation	SNP	A	TCGA-WL-A834-01A-11D-A351-09	6571433	33457395	147457865	33	37149										
YTHDC2	64848	genome.wustl.edu	37	chr5	112884255	112884255	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tagttgattacagacatagtGaaaccagtgcaacagctctg	9	8	1	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:112884255G>A	ENST00000161863.4	+	11	1726	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E505K	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	505					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CAGACATAGTGAAACCAGTGC	0.348																																																	0													96	97	97					5																	112884255		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1513G>A	5.37:g.112884255G>A	ENSP00000161863:p.Glu505Lys		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E505K	ENST00000161863.4	37	c.1513	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844287	0.71488	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.67171	-0.25;-0.25	5.43	5.43	0.79202	Ankyrin repeat-containing domain (4);	0.055700	0.64402	D	0.000001	T	0.54759	0.1878	N	0.16903	0.455	0.58432	D	0.999992	B	0.31153	0.31	B	0.30029	0.11	T	0.56068	-0.8040	10	0.51188	T	0.08	.	19.5853	0.95488	0.0:0.0:1.0:0.0	.	505	Q9H6S0	YTDC2_HUMAN	K	505;505;415	ENSP00000161863:E505K;ENSP00000423101:E505K	ENSP00000161863:E505K	E	+	1	0	YTHDC2	112912154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.664000	0.83830	2.701000	0.92244	0.557000	0.71058	GAA	YTHDC2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.348	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112884255	1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	A	A	112884255	G	A	112884255	3	1	194	1	0	0	0	0	1	0	0	0	17528	1291	45	1	1555	1	YTHDC2	5	112884255	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	79426860	112884255	68031005	34	37150										
FBN2	2201	genome.wustl.edu	37	chr5	127686699	127686699	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	caggtccccttcaggctgtcTgaaaaggaacaggaaaggtt	12	9	2	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:127686699T>C	ENST00000508053.1	-	27	3649		c.e27-2		FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCAGGCTGTCTGAAAAGGAAC	0.453																																																	0													62	65	64					5																	127686699		2203	4300	6503	SO:0001630	splice_region_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2675-2A>G	5.37:g.127686699T>C			B4DU01|Q59ES6	Splice_Site	SNP	-	e21-2	ENST00000508053.1	37	c.2675-2	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002478	0.74932	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8805	0.63680	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127714598	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.779000	0.85648	2.014000	0.59158	0.460000	0.39030	.	FBN2	-	-		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	T	NM_001999	Intron	127686699	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	splice_site	SNP	1.000	C	C	127686699	T	C	127686699	5	2	194	1	0	0	0	0	0	0	1	0	5721	1594	55	5	6245	5	FBN2	5	127686699	Splice_Site	SNP	T	TCGA-WL-A834-01A-11D-A351-09	14802444	127686699	53228561	35	37151										
WDR55	54853	genome.wustl.edu	37	chr5	140047914	140047914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tgtggccttctctgaagatgGgcagagtgagtactggggaa	16	6	1	4			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:140047914G>T	ENST00000358337.5	+	2	524	c.287G>T	c.(286-288)gGg>gTg	p.G96V		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	96					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAAGATGGGCAGAGTGAG	0.552																																																	0													122	109	114					5																	140047914		2203	4300	6503	SO:0001583	missense	54853			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"WD repeat domain containing"	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.287G>T	5.37:g.140047914G>T	ENSP00000351100:p.Gly96Val		Q9NXK4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G96V	ENST00000358337.5	37	c.287	CCDS4235.1	5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041719	0.75732	.	.	ENSG00000120314	ENST00000358337	T	0.39406	1.08	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.78278	0.4258	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86627	0.1883	10	0.87932	D	0	-7.4712	17.4665	0.87634	0.0:0.0:1.0:0.0	.	96	Q9H6Y2	WDR55_HUMAN	V	96	ENSP00000351100:G96V	ENSP00000351100:G96V	G	+	2	0	WDR55	140028098	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.396000	0.97270	2.644000	0.89710	0.563000	0.77884	GGG	WDR55	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.552	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR55	HGNC	protein_coding	OTTHUMT00000251680.3	G	NM_017706		140047914	1	no_errors	ENST00000358337	ensembl	human	known	70_37	missense	SNP	1.000	T	T	140047914	G	T	140047914	3	4	194	1	0	0	0	0	1	0	0	0	17338	1232	43	4	293	4	WDR55	5	140047914	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	12361215	140047914	40867346	36	37152										
SPRY4	81848	genome.wustl.edu	37	chr5	141694154	141694154	+	Frame_Shift_Del	DEL	G	G	-													0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ccagcaggaaggcaacgtccGgggggatgcacactccttgc					rs369403370		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:141694154delG	ENST00000434127.2	-	2	763	c.520delC	c.(520-522)cggfs	p.R174fs	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Frame_Shift_Del_p.R197fs	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAACGTCCGGGGGGATGCA	0.607									Testicular Cancer, Familial Clustering of																																								0													72	73	73					5																	141694154		2203	4300	6503	SO:0001589	frameshift_variant	81848	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.520delC	5.37:g.141694154delG	ENSP00000399468:p.Arg174fs		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Frame_Shift_Del	DEL	pfam_Sprouty	p.R197fs	ENST00000434127.2	37	c.589	CCDS47296.1	5																																																																																			SPRY4	-	pfam_Sprouty		0.607	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY4	HGNC	protein_coding	OTTHUMT00000370652.1	G			141694154	-1	no_errors	ENST00000344120	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-	-	141694154	G	-	141694154	7	5	194	1	0	1	0	1	0	0	0	0	15138	1115	39	0	383	0	SPRY4	5	141694154	Frame_Shift_Del	DEL	G	TCGA-WL-A834-01A-11D-A351-09	1646240	141694154	39221106	37	37153										
ADAMTS2	9509	genome.wustl.edu	37	chr5	178548700	178548700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tgggcgagtcggggtccgggCgggacagccactgaactacg	18	11	0	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:178548700C>T	ENST00000251582.7	-	21	3241	c.3140G>A	c.(3139-3141)cGc>cAc	p.R1047H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1047					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGGTCCGGGCGGGACAGCCA	0.632																																																	0													184	196	192					5																	178548700		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3140G>A	5.37:g.178548700C>T	ENSP00000251582:p.Arg1047His			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R1047H	ENST00000251582.7	37	c.3140	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158496	0.78114	.	.	ENSG00000087116	ENST00000251582	T	0.60920	0.15	5.74	5.74	0.90152	.	0.125031	0.35207	N	0.003374	T	0.54775	0.1879	M	0.62723	1.935	0.80722	D	1	D	0.56521	0.976	B	0.42030	0.373	T	0.60742	-0.7203	10	0.54805	T	0.06	.	12.2512	0.54599	0.0:0.9231:0.0:0.0769	.	1047	O95450	ATS2_HUMAN	H	1047	ENSP00000251582:R1047H	ENSP00000251582:R1047H	R	-	2	0	ADAMTS2	178481306	1.000000	0.71417	0.928000	0.36995	0.927000	0.56198	4.253000	0.58791	2.709000	0.92574	0.555000	0.69702	CGC	ADAMTS2	-	NULL		0.632	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	C	NM_014244		178548700	-1	no_errors	ENST00000251582	ensembl	human	known	70_37	missense	SNP	0.793	T	T	178548700	C	T	178548700	3	4	194	1	0	0	0	0	1	0	0	0	265	768	27	2	503	2	ADAMTS2	5	178548700	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	36854546	178548700	2366560	38	37154										
DSP	1832	genome.wustl.edu	37	chr6	7572161	7572161	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ccaacagagaaaatgacaagCaagaaacatggatgctgatg	10	7	0	4	rs121912995		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr6:7572161C>G	ENST00000379802.3	+	15	2331	c.1990C>G	c.(1990-1992)Caa>Gaa	p.Q664E	DSP_ENST00000418664.2_Missense_Mutation_p.Q664E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	664	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAATGACAAGCAAGAAACATG	0.448																																																	0			GRCh37	CM020673	DSP	M	rs121912995						104	97	99					6																	7572161		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1990C>G	6.37:g.7572161C>G	ENSP00000369129:p.Gln664Glu		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q664E	ENST00000379802.3	37	c.1990	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079302	0.55753	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.73681	-0.45;-0.77	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000018	T	0.63438	0.2511	N	0.19112	0.55	0.44006	D	0.996719	P;B	0.49447	0.924;0.128	P;B	0.59424	0.857;0.039	T	0.61787	-0.6991	10	0.05721	T	0.95	.	19.569	0.95405	0.0:1.0:0.0:0.0	.	711;664	Q4LE79;P15924	.;DESP_HUMAN	E	664;664;469	ENSP00000369129:Q664E;ENSP00000396591:Q664E	ENSP00000369129:Q664E	Q	+	1	0	DSP	7517160	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.523000	0.53488	2.637000	0.89404	0.585000	0.79938	CAA	DSP	-	NULL		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7572161	1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	1.000	G	G	7572161	C	G	7572161	3	3	194	1	0	0	0	0	1	0	0	0	4791	711	25	4	2048	4	DSP	6	7572161	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		7572161	163542906	39	37155										
HIST1H1T	3010	genome.wustl.edu	37	chr6	26107819	26107819	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ccttggctcctttagcctttCtcccgctcctaacagtttta	5	15	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr6:26107819C>A	ENST00000338379.4	-	1	545	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	168					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTTAGCCTTTCTCCCGCTCCT	0.468																																																	0													138	130	133					6																	26107819		2203	4300	6503	SO:0001583	missense	3010			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.503G>T	6.37:g.26107819C>A	ENSP00000341214:p.Arg168Ile		Q6ISI1|Q8IUE8	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.R168I	ENST00000338379.4	37	c.503	CCDS34349.1	6	.	.	.	.	.	.	.	.	.	.	.	18.38	3.611910	0.66558	.	.	ENSG00000187475	ENST00000338379	T	0.04551	3.6	5.08	1.05	0.20165	.	0.200872	0.41097	D	0.000959	T	0.01870	0.0059	N	0.08118	0	0.41351	D	0.987365	D	0.60575	0.988	P	0.54664	0.758	T	0.57797	-0.7749	10	0.62326	D	0.03	-42.2693	6.4209	0.21742	0.0:0.4094:0.0:0.5906	.	168	P22492	H1T_HUMAN	I	168	ENSP00000341214:R168I	ENSP00000341214:R168I	R	-	2	0	HIST1H1T	26215798	0.092000	0.21681	0.002000	0.10522	0.067000	0.16453	0.747000	0.26290	0.331000	0.23511	0.655000	0.94253	AGA	HIST1H1T	-	NULL		0.468	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1T	HGNC	protein_coding	OTTHUMT00000040093.2	C	NM_005323		26107819	-1	no_errors	ENST00000338379	ensembl	human	known	70_37	missense	SNP	0.570	A	A	26107819	C	A	26107819	3	1	194	1	0	0	0	0	1	0	0	0	7147	913	32	3	124	3	HIST1H1T	6	26107819	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	18535658	26107819	145007248	40	37156										
PRSS35	167681	genome.wustl.edu	37	chr6	84234251	84234251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	agacaaaaagaattggaagcGcaaaatcattgcggtctact	9	7	2	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr6:84234251G>A	ENST00000369700.3	+	2	1268	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	PRSS35_ENST00000536636.1_Missense_Mutation_p.R364H	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	364	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AATTGGAAGCGCAAAATCATT	0.517																																																	0													79	75	76					6																	84234251		2203	4300	6503	SO:0001583	missense	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1091G>A	6.37:g.84234251G>A	ENSP00000358714:p.Arg364His		A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.R364H	ENST00000369700.3	37	c.1091	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.311807	0.95655	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.42513	0.97;0.97	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67405	-0.5679	10	0.87932	D	0	-24.5883	20.2946	0.98546	0.0:0.0:1.0:0.0	.	364	Q8N3Z0	PRS35_HUMAN	H	364	ENSP00000440870:R364H;ENSP00000358714:R364H	ENSP00000358714:R364H	R	+	2	0	PRSS35	84290970	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	CGC	PRSS35	-	superfamily_Pept_cys/ser_Trypsin-like		0.517	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	G	NM_153362		84234251	1	no_errors	ENST00000369700	ensembl	human	known	70_37	missense	SNP	1.000	A	A	84234251	G	A	84234251	3	1	194	1	0	0	0	0	1	0	0	0	12651	1087	38	2	1093	2	PRSS35	6	84234251	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	58126432	84234251	86880816	41	37157										
ARHGAP18	93663	genome.wustl.edu	37	chr6	129959716	129959716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tcctgtggatctccagcagaCtctccgaagagattggataa	10	10	2	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr6:129959716C>A	ENST00000368149.2	-	3	463	c.375G>T	c.(373-375)gaG>gaT	p.E125D		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTCCAGCAGACTCTCCGAAGA	0.458																																																	0													88	92	91					6																	129959716		2203	4300	6503	SO:0001583	missense	93663			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.375G>T	6.37:g.129959716C>A	ENSP00000357131:p.Glu125Asp			Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E125D	ENST00000368149.2	37	c.375	CCDS34535.1	6	.	.	.	.	.	.	.	.	.	.	C	7.697	0.692335	0.15039	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.83	1.72	0.24424	.	0.158481	0.56097	D	0.000037	T	0.26521	0.0648	L	0.53249	1.67	0.35520	D	0.801325	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.04360	-1.0957	8	.	.	.	.	5.1481	0.14996	0.1026:0.5721:0.1878:0.1374	.	125;125	A9UK01;Q8N392	.;RHG18_HUMAN	D	80;125	.	.	E	-	3	2	ARHGAP18	130001409	0.884000	0.30299	0.828000	0.32881	0.850000	0.48378	0.502000	0.22594	0.737000	0.32582	-0.355000	0.07637	GAG	ARHGAP18	-	NULL		0.458	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	C	NM_033515		129959716	-1	no_errors	ENST00000275189	ensembl	human	known	70_37	missense	SNP	0.678	A	A	129959716	C	A	129959716	3	1	194	1	0	0	0	0	1	0	0	0	868	564	20	4	1668	4	ARHGAP18	6	129959716	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	45725465	129959716	41155351	42	37158										
SRCRB4D	136853	genome.wustl.edu	37	chr7	76021282	76021282	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ggggattatgggcacctaccGtccctgggccgaggagtggg	18	10	0	0	rs200937354		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr7:76021282G>A	ENST00000275560.3	-	10	1757	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GGCACCTACCGTCCCTGGGCC	0.582																																																	0													42	33	36					7																	76021282		2203	4299	6502	SO:0001630	splice_region_variant	136853																														ENST00000275560.3:c.1411+1C>T	7.37:g.76021282G>A				Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.D470	ENST00000275560.3	37	c.1410	CCDS5585.1	7																																																																																			SRCRB4D	-	superfamily_Srcr_rcpt-rel		0.582	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	HGNC	protein_coding	OTTHUMT00000253001.3	G		Silent	76021282	-1	no_errors	ENST00000275560	ensembl	human	known	70_37	silent	SNP	0.962	A	A	76021282	G	A	76021282	5	1	194	1	0	0	0	0	0	0	1	0	15167	1159	40	2	325	2	SRCRB4D	7	76021282	Splice_Site	SNP	G	TCGA-WL-A834-01A-11D-A351-09		76021282	83117381	43	37159										
SLC26A3	1811	genome.wustl.edu	37	chr7	107423751	107423751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gatgccgaagcaatctcctaCggtgttttggaaagtctcca	10	10	2	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr7:107423751C>T	ENST00000340010.5	-	9	1202	c.1018G>A	c.(1018-1020)Gta>Ata	p.V340I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V305I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	340					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCTCCTACGGTGTTTTGG	0.418																																																	0													87	85	86					7																	107423751		2203	4300	6503	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1018G>A	7.37:g.107423751C>T	ENSP00000345873:p.Val340Ile			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.V340I	ENST00000340010.5	37	c.1018	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	T	2.337	-0.352052	0.05173	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92699	-3.09;-3.09	5.28	5.28	0.74379	Sulphate transporter (1);	0.146062	0.64402	N	0.000011	T	0.74589	0.3736	N	0.02685	-0.53	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.62909	-0.6754	10	0.02654	T	1	.	4.587	0.12287	0.1336:0.2153:0.0:0.6511	.	305;340	G5E9U3;P40879	.;S26A3_HUMAN	I	305;340	ENSP00000415817:V305I;ENSP00000345873:V340I	ENSP00000345873:V340I	V	-	1	0	SLC26A3	107210987	0.016000	0.18221	0.905000	0.35620	0.099000	0.18886	0.293000	0.19029	0.947000	0.37659	-0.254000	0.11334	GTA	SLC26A3	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	C	NM_000111		107423751	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	missense	SNP	0.018	T	T	107423751	C	T	107423751	3	4	194	1	0	0	0	0	1	0	0	0	14548	536	19	2	1328	2	SLC26A3	7	107423751	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	31402469	107423751	51714912	44	37160										
COPG2	114960	genome.wustl.edu	37	chr7	130353481	130353481	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cccgcgcgtaccagactcctCgtccttcttgtcgaattttt	7	15	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr7:130353481C>T	ENST00000456951.1	-	0	2046				COPG2_ENST00000445977.2_Missense_Mutation_p.E10K			Q96PP4	TSG13_HUMAN	testis specific, 13											endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CCAGACTCCTCGTCCTTCTTG	0.697																																																	0													25	34	31					7																	130353481		1875	4087	5962	SO:0001628	intergenic_variant	26958			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999		7.37:g.130353481C>T			B3KSC9	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold	p.E10K	ENST00000456951.1	37	c.28	CCDS5824.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.144045	0.94603	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	.	.	.	4.46	4.46	0.54185	.	0.000000	0.64402	U	0.000001	T	0.57519	0.2059	M	0.80183	2.485	0.58432	D	0.999999	P	0.46395	0.877	B	0.36378	0.223	T	0.69390	-0.5158	9	0.62326	D	0.03	.	14.974	0.71257	0.0:1.0:0.0:0.0	.	10	Q9UBF2	COPG2_HUMAN	K	10	.	ENSP00000331218:E10K	E	-	1	0	COPG2	130004021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.126000	0.71635	2.175000	0.68902	0.561000	0.74099	GAG	COPG2	-	NULL		0.697	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG2	HGNC	protein_coding	OTTHUMT00000337997.1	C	NM_052933		130353481	-1	no_errors	ENST00000445977	ensembl	human	known	70_37	missense	SNP	1.000	T	T	130353481	C	T	130353481	1	4	194	0	1	0	0	0	0	0	0	0	3737	893	31	1		1	COPG2	7	130353481	IGR	SNP	C	TCGA-WL-A834-01A-11D-A351-09	22929730	130353481	28785182	45	37161										
NCAPG2	54892	genome.wustl.edu	37	chr7	158476039	158476039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cctcctcggaaggtgtatccCgtggaacatgaagtcctgga	12	11	0	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr7:158476039C>T	ENST00000409423.1	-	10	1049	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	NCAPG2_ENST00000356309.3_Missense_Mutation_p.G293R|NCAPG2_ENST00000449727.2_Missense_Mutation_p.G293R|NCAPG2_ENST00000275830.10_Missense_Mutation_p.G85R|NCAPG2_ENST00000409339.3_Missense_Mutation_p.G293R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	293					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.G293W(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGGTGTATCCCGTGGAACATG	0.428																																																	1	Substitution - Missense(1)	lung(1)											168	164	165					7																	158476039		1909	4129	6038	SO:0001583	missense	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.877G>A	7.37:g.158476039C>T	ENSP00000386569:p.Gly293Arg		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.G293R	ENST00000409423.1	37	c.877	CCDS43686.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235208	0.79800	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.5	5.5	0.81552	Armadillo-type fold (1);	0.051078	0.85682	D	0.000000	T	0.62950	0.2470	L	0.54323	1.7	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.63413	-0.6643	10	0.72032	D	0.01	-28.145	19.7664	0.96346	0.0:1.0:0.0:0.0	.	293;85;293	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	R	293;293;85;293;293	ENSP00000348657:G293R;ENSP00000386569:G293R;ENSP00000275830:G85R;ENSP00000387007:G293R;ENSP00000388326:G293R	ENSP00000275830:G85R	G	-	1	0	NCAPG2	158168800	1.000000	0.71417	0.859000	0.33776	0.433000	0.31745	6.776000	0.75023	2.735000	0.93741	0.655000	0.94253	GGG	NCAPG2	-	pfam_Condensin2_G2,superfamily_ARM-type_fold		0.428	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	C	NM_017760		158476039	-1	no_errors	ENST00000409339	ensembl	human	known	70_37	missense	SNP	0.998	T	T	158476039	C	T	158476039	3	4	194	1	0	0	0	0	1	0	0	0	10232	652	23	2	2634	2	NCAPG2	7	158476039	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	28122558	158476039	662624	46	37162										
LETM2	137994	genome.wustl.edu	37	chr8	38250390	38250390	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	caatcttatagacaaaaaatCatggatgaactaaaatatta	4	5	2	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:38250390C>G	ENST00000379957.4	+	3	505	c.378C>G	c.(376-378)atC>atG	p.I126M	LETM2_ENST00000524874.1_Missense_Mutation_p.I126M|LETM2_ENST00000519476.2_Missense_Mutation_p.I126M|LETM2_ENST00000523983.2_Missense_Mutation_p.I79M|LETM2_ENST00000297720.5_Missense_Mutation_p.I79M	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	126	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GACAAAAAATCATGGATGAAC	0.418																																																	0													60	61	61					8																	38250390		2203	4300	6503	SO:0001583	missense	137994			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.378C>G	8.37:g.38250390C>G	ENSP00000369291:p.Ile126Met		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	pfam_LETM1	p.I126M	ENST00000379957.4	37	c.378		8	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456601	0.26161	.	.	ENSG00000165046	ENST00000519476;ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000526356	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.75	-3.79	0.04320	LETM1-like (1);	0.067575	0.64402	D	0.000003	T	0.54581	0.1867	M	0.83223	2.63	0.33951	D	0.644429	P;P;D	0.54397	0.939;0.835;0.966	P;B;P	0.57204	0.758;0.342;0.815	T	0.61888	-0.6970	10	0.87932	D	0	.	4.4821	0.11773	0.0924:0.2291:0.0927:0.5858	.	126;126;126	Q2VYF4;E9PMA4;A8K1M9	LETM2_HUMAN;.;.	M	126;79;126;126;79;126	ENSP00000429269:I126M;ENSP00000297720:I79M;ENSP00000431211:I126M;ENSP00000369291:I126M;ENSP00000428765:I79M	ENSP00000297720:I79M	I	+	3	3	LETM2	38369547	0.000000	0.05858	0.011000	0.14972	0.186000	0.23388	-0.935000	0.03950	-0.315000	0.08703	-0.302000	0.09304	ATC	LETM2	-	pfam_LETM1		0.418	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	HGNC	protein_coding	OTTHUMT00000381816.1	C	NM_144652		38250390	1	no_errors	ENST00000379957	ensembl	human	known	70_37	missense	SNP	0.005	G	G	38250390	C	G	38250390	3	3	194	1	0	0	0	0	1	0	0	0	8755	816	29	1	239	1	LETM2	8	38250390	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		38250390	108113632	47	37163										
PRKDC	5591	genome.wustl.edu	37	chr8	48766714	48766714	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	catcacgatgcctagcaattGaatccctactgagttgtctt	7	11	2	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:48766714G>C	ENST00000314191.2	-	52	6876	c.6820C>G	c.(6820-6822)Caa>Gaa	p.Q2274E	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q2274E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2275					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCTAGCAATTGAATCCCTACT	0.413								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													114	109	110					8																	48766714		1912	4135	6047	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6820C>G	8.37:g.48766714G>C	ENSP00000313420:p.Gln2274Glu		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q2274E	ENST00000314191.2	37	c.6820		8	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438401	0.83885	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.63913	-0.07;-0.07	5.05	5.05	0.67936	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.81029	0.4738	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.68765	0.96;0.909	D	0.84563	0.0651	10	0.72032	D	0.01	.	17.3796	0.87401	0.0:0.0:1.0:0.0	.	2274;2275	E7EUY0;P78527	.;PRKDC_HUMAN	E	2274	ENSP00000313420:Q2274E;ENSP00000345182:Q2274E	ENSP00000313420:Q2274E	Q	-	1	0	PRKDC	48929267	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	9.301000	0.96167	2.342000	0.79632	0.650000	0.86243	CAA	PRKDC	-	superfamily_ARM-type_fold		0.413	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48766714	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C	C	48766714	G	C	48766714	3	2	194	1	0	0	0	0	1	0	0	0	12548	1299	45	1	5707	1	PRKDC	8	48766714	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	10516324	48766714	97597308	48	37164										
RUNX1T1	862	genome.wustl.edu	37	chr8	93026984	93026984	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gaagaggaaggcccattgctGaagccattgggtggtgaggg	18	6	0	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:93026984G>A	ENST00000523629.1	-	4	745	c.291C>T	c.(289-291)ttC>ttT	p.F97F	RUNX1T1_ENST00000520724.1_Silent_p.F60F|RUNX1T1_ENST00000521553.1_Silent_p.F60F|RUNX1T1_ENST00000396218.1_Silent_p.F70F|RUNX1T1_ENST00000265814.3_Silent_p.F97F|RUNX1T1_ENST00000422361.2_Silent_p.F60F|RUNX1T1_ENST00000360348.2_Silent_p.F60F|RUNX1T1_ENST00000436581.2_Silent_p.F108F|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000518844.1_Silent_p.F70F	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	97					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCCATTGCTGAAGCCATTGG	0.522																																																	0													55	58	57					8																	93026984		2203	4300	6503	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.291C>T	8.37:g.93026984G>A			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.F108	ENST00000523629.1	37	c.324	CCDS6256.1	8																																																																																			RUNX1T1	-	NULL		0.522	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93026984	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	silent	SNP	1.000	A	A	93026984	G	A	93026984	2	1	194	1	0	0	0	0	0	0	0	1	13777	1281	45	1		1	RUNX1T1	8	93026984	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	44260270	93026984	53337038	49	37165										
CSMD3	114788	genome.wustl.edu	37	chr8	113246671	113246671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tactttaataagatatatgcGtaacattaggcgagcttcct	7	7	0	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:113246671G>A	ENST00000297405.5	-	68	10907	c.10663C>T	c.(10663-10665)Cgc>Tgc	p.R3555C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3515C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3386C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3485C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3555						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGATATATGCGTAACATTAGG	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													160	158	159					8																	113246671		2203	4299	6502	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10663C>T	8.37:g.113246671G>A	ENSP00000297405:p.Arg3555Cys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R3555C	ENST00000297405.5	37	c.10663	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326153	0.60743	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25579	2.11;2.1;2.11;1.79;2.11	5.16	5.16	0.70880	.	0.285984	0.28766	N	0.014203	T	0.21387	0.0515	N	0.22421	0.69	0.31989	N	0.604882	P;P;B	0.47762	0.879;0.9;0.027	B;B;B	0.40256	0.324;0.157;0.032	T	0.13072	-1.0523	10	0.72032	D	0.01	.	18.8461	0.92208	0.0:0.0:1.0:0.0	.	3386;3555;3515	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3515;3555;2825;3386;3485	ENSP00000345799:R3515C;ENSP00000297405:R3555C;ENSP00000341558:R2825C;ENSP00000412263:R3386C;ENSP00000343124:R3485C	ENSP00000297405:R3555C	R	-	1	0	CSMD3	113315847	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	4.870000	0.63035	2.690000	0.91761	0.655000	0.94253	CGC	CSMD3	-	NULL		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113246671	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	0.970	A	A	113246671	G	A	113246671	3	1	194	1	0	0	0	0	1	0	0	0	3951	1145	40	2	476	2	CSMD3	8	113246671	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	20219687	113246671	33117351	50	37166										
FBXO32	114907	genome.wustl.edu	37	chr8	124516928	124516928	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gggtaacatcggacaagtttGaaatacatcttcttccaatc	7	9	2	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:124516928G>C	ENST00000517956.1	-	8	1085	c.894C>G	c.(892-894)ttC>ttG	p.F298L	FBXO32_ENST00000443022.2_Missense_Mutation_p.F205L	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	298					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGACAAGTTTGAAATACATCT	0.418																																																	0													152	126	135					8																	124516928		2203	4300	6503	SO:0001583	missense	114907			AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"F-boxes /  "other""	16731	protein-coding gene	gene with protein product		606604	"F-box only protein 32"			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.894C>G	8.37:g.124516928G>C	ENSP00000428205:p.Phe298Leu		A4KYM0	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.F298L	ENST00000517956.1	37	c.894	CCDS6345.1	8	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396756	0.42512	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	T;T	0.22134	1.97;1.97	5.18	1.24	0.21308	F-box domain, Skp2-like (1);	0.044737	0.85682	D	0.000000	T	0.18800	0.0451	L	0.59436	1.845	0.58432	D	0.999999	B;B	0.31274	0.178;0.317	B;B	0.31245	0.108;0.126	T	0.03933	-1.0991	10	0.32370	T	0.25	-4.2142	8.74	0.34552	0.6132:0.0:0.3868:0.0	.	205;298	A4KYM0;Q969P5	.;FBX32_HUMAN	L	298;205	ENSP00000428205:F298L;ENSP00000390790:F205L	ENSP00000390790:F205L	F	-	3	2	FBXO32	124586109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.027000	0.30115	0.073000	0.16731	-0.459000	0.05422	TTC	FBXO32	-	superfamily_F-box_dom_cyclin-like		0.418	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO32	HGNC	protein_coding	OTTHUMT00000381281.1	G			124516928	-1	no_errors	ENST00000517956	ensembl	human	known	70_37	missense	SNP	0.999	C	C	124516928	G	C	124516928	3	2	194	1	0	0	0	0	1	0	0	0	5760	1281	45	1	181	1	FBXO32	8	124516928	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	11270257	124516928	21847094	51	37167										
ZNF16	7564	genome.wustl.edu	37	chr8	146156819	146156819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ttctccagtgtgaattctccGatgctgaataaggctggagc	11	9	2	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:146156819G>A	ENST00000276816.4	-	4	1540	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	ZNF16_ENST00000394909.2_Missense_Mutation_p.R452W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	452					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGAATTCTCCGATGCTGAATA	0.478																																																	0													83	81	82					8																	146156819		2203	4300	6503	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1354C>T	8.37:g.146156819G>A	ENSP00000276816:p.Arg452Trp		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R452W	ENST00000276816.4	37	c.1354	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599273	0.28534	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.18810	2.19;2.19	3.88	2.95	0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41811	0.1175	M	0.64404	1.975	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.09100	-1.0690	9	0.87932	D	0	.	11.6581	0.51330	0.0:0.0:0.8223:0.1777	.	452	P17020	ZNF16_HUMAN	W	452	ENSP00000276816:R452W;ENSP00000378369:R452W	ENSP00000276816:R452W	R	-	1	2	ZNF16	146127623	0.001000	0.12720	0.322000	0.25334	0.349000	0.29174	1.000000	0.29770	1.985000	0.57927	0.462000	0.41574	CGG	ZNF16	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	G	NM_006958		146156819	-1	no_errors	ENST00000276816	ensembl	human	known	70_37	missense	SNP	0.044	A	A	146156819	G	A	146156819	3	1	194	1	0	0	0	0	1	0	0	0	17768	1057	37	1	698	1	ZNF16	8	146156819	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	21639891	146156819	207203	52	37168										
PIGO	84720	genome.wustl.edu	37	chr9	35091686	35091686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	atgccccagagaccaggaccCggagacgggggggagcctca	16	13	1	2	rs373305585	byFrequency	TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:35091686C>T	ENST00000378617.3	-	7	2592	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R733Q|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	733					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACCAGGACCCGGAGACGGGG	0.657													C|||	23	0.00459265	0	0	5008	,	,		15357	0		0	False		,,,				2504	0.0235																0													24	29	27					9																	35091686		2171	4243	6414	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2198G>A	9.37:g.35091686C>T	ENSP00000367880:p.Arg733Gln		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R733Q	ENST00000378617.3	37	c.2198	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	C	5.074	0.199237	0.09652	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.54279	0.58;0.58	5.44	2.46	0.29980	.	0.289379	0.35262	N	0.003322	T	0.25195	0.0612	N	0.08118	0	0.80722	D	1	B	0.18968	0.032	B	0.15484	0.013	T	0.04930	-1.0917	10	0.10377	T	0.69	-9.1839	7.4379	0.27166	0.0:0.6477:0.0:0.3523	.	733	Q8TEQ8	PIGO_HUMAN	Q	733	ENSP00000367880:R733Q;ENSP00000339382:R733Q	ENSP00000339382:R733Q	R	-	2	0	PIGO	35081686	0.688000	0.27680	1.000000	0.80357	0.358000	0.29455	0.618000	0.24373	0.881000	0.35993	-0.794000	0.03295	CGG	PIGO	-	NULL		0.657	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	C	NM_032634		35091686	-1	no_errors	ENST00000341666	ensembl	human	known	70_37	missense	SNP	1.000	T	T	35091686	C	T	35091686	3	4	194	1	0	0	0	0	1	0	0	0	11918	652	23	2	1091	2	PIGO	9	35091686	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		35091686	106121745	53	37169										
PHF2	5253	genome.wustl.edu	37	chr9	96398778	96398778	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	aatggcagccagctcttcatCaaggagctgcggagccggac	13	12	3	0	rs368398809		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:96398778C>T	ENST00000359246.4	+	3	637	c.270C>T	c.(268-270)atC>atT	p.I90I	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	90					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGCTCTTCATCAAGGAGCTGC	0.632																																																	0													36	35	35					9																	96398778		2201	4295	6496	SO:0001819	synonymous_variant	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.270C>T	9.37:g.96398778C>T			Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.I90	ENST00000359246.4	37	c.270	CCDS35069.1	9																																																																																			PHF2	-	NULL		0.632	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	C	NM_005392		96398778	1	no_errors	ENST00000359246	ensembl	human	known	70_37	silent	SNP	1.000	T	T	96398778	C	T	96398778	2	4	194	1	0	0	0	0	0	0	0	1	11854	816	29	1		1	PHF2	9	96398778	Silent	SNP	C	TCGA-WL-A834-01A-11D-A351-09	61307092	96398778	44814653	54	37170										
C9orf3	84909	genome.wustl.edu	37	chr9	97563233	97563233	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gggagcacacccgttctctcGgctggatgttctcatcgtcc	11	14	2	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:97563233G>C	ENST00000375315.2	+	4	1313	c.1313G>C	c.(1312-1314)cGg>cCg	p.R438P	C9orf3_ENST00000395357.2_Missense_Mutation_p.R58P|C9orf3_ENST00000277198.2_Missense_Mutation_p.R438P|C9orf3_ENST00000297979.5_Missense_Mutation_p.R438P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	438					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CCGTTCTCTCGGCTGGATGTT	0.547																																																	0													123	117	119					9																	97563233		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1313G>C	9.37:g.97563233G>C	ENSP00000364464:p.Arg438Pro		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.R438P	ENST00000375315.2	37	c.1313	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635193	0.87760	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000395357	T;T;T;T;T;T	0.05382	4.11;3.45;3.45;3.45;3.45;4.11	5.17	5.17	0.71159	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.996;1.0;0.989	T	0.00270	-1.1860	10	0.87932	D	0	-13.9324	18.8557	0.92251	0.0:0.0:1.0:0.0	.	438;438;438;438	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	P	438;438;438;261;220;58	ENSP00000277198:R438P;ENSP00000297979:R438P;ENSP00000364464:R438P;ENSP00000402171:R261P;ENSP00000401854:R220P;ENSP00000378763:R58P	ENSP00000277198:R438P	R	+	2	0	C9orf3	96603054	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.275000	0.89892	2.688000	0.91661	0.650000	0.86243	CGG	C9orf3	-	pfam_Peptidase_M1_N		0.547	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		G	NM_032823		97563233	1	no_errors	ENST00000375315	ensembl	human	known	70_37	missense	SNP	1.000	C	C	97563233	G	C	97563233	3	2	194	1	0	0	0	0	1	0	0	0	2482	1116	39	2	1327	2	C9orf3	9	97563233	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	1164455	97563233	43650198	55	37171										
COL15A1	1306	genome.wustl.edu	37	chr9	101751495	101751495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	agtgggctgcaggaggcagaCggagtagctgagatcttaga	17	6	1	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:101751495C>T	ENST00000375001.3	+	5	1182	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	253	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGAGGCAGACGGAGTAGCTG	0.567																																																	0													134	98	110					9																	101751495		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.759C>T	9.37:g.101751495C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.D253	ENST00000375001.3	37	c.759	CCDS35081.1	9																																																																																			COL15A1	-	NULL		0.567	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	C	NM_001855		101751495	1	no_errors	ENST00000375001	ensembl	human	known	70_37	silent	SNP	0.000	T	T	101751495	C	T	101751495	2	4	194	1	0	0	0	0	0	0	0	1	3677	535	19	2		2	COL15A1	9	101751495	Silent	SNP	C	TCGA-WL-A834-01A-11D-A351-09	4188262	101751495	39461936	56	37172										
MUSK	4593	genome.wustl.edu	37	chr9	113550063	113550063	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gatatgcaagcggactttcaGagggaggcagccctcatggc	14	10	2	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:113550063G>A	ENST00000374448.4	+	14	2006	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	MUSK_ENST00000416899.2_Silent_p.Q616Q|MUSK_ENST00000189978.5_Silent_p.Q624Q|MUSK_ENST00000374438.1_Silent_p.Q140Q	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	624	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CGGACTTTCAGAGGGAGGCAG	0.448																																																	0													57	54	55					9																	113550063		1875	4113	5988	SO:0001819	synonymous_variant	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1872G>A	9.37:g.113550063G>A			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q630	ENST00000374448.4	37	c.1890	CCDS48005.1	9																																																																																			MUSK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.448	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		G			113550063	1	no_errors	ENST00000189978	ensembl	human	known	70_37	silent	SNP	1.000	A	A	113550063	G	A	113550063	2	1	194	1	0	0	0	0	0	0	0	1	10012	933	33	1		1	MUSK	9	113550063	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	11798568	113550063	27663368	57	37173										
NRARP	441478	genome.wustl.edu	37	chr9	140196226	140196226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ccgactggtgcagcgccgtcTggccctcgggcccgaacgag	15	16	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:140196226T>G	ENST00000356628.2	-	1	477	c.155A>C	c.(154-156)cAg>cCg	p.Q52P		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	52					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CAGCGCCGTCTGGCCCTCGGG	0.652																																																	0													48	38	41					9																	140196226		2202	4298	6500	SO:0001583	missense	441478				CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"Ankyrin repeat domain containing"	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.155A>C	9.37:g.140196226T>G	ENSP00000349041:p.Gln52Pro		B8A4K5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q52P	ENST00000356628.2	37	c.155	CCDS35188.1	9	.	.	.	.	.	.	.	.	.	.	T	14.45	2.537870	0.45176	.	.	ENSG00000198435	ENST00000356628	T	0.65178	-0.14	3.57	1.01	0.19927	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.51958	0.1705	L	0.59912	1.85	0.47245	D	0.999361	B	0.17465	0.022	B	0.18263	0.021	T	0.37478	-0.9704	10	0.36615	T	0.2	.	7.0038	0.24826	0.3638:0.0:0.0:0.6361	.	52	Q7Z6K4	NRARP_HUMAN	P	52	ENSP00000349041:Q52P	ENSP00000349041:Q52P	Q	-	2	0	NRARP	139316047	1.000000	0.71417	0.982000	0.44146	0.312000	0.27988	2.018000	0.40991	0.018000	0.15052	-0.553000	0.04205	CAG	NRARP	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.652	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRARP	HGNC	protein_coding	OTTHUMT00000343196.1	T	NM_001004354		140196226	-1	no_errors	ENST00000356628	ensembl	human	known	70_37	missense	SNP	1.000	G	G	140196226	T	G	140196226	3	3	194	1	0	0	0	0	1	0	0	0	10663	1580	55	5	193	5	NRARP	9	140196226	Missense_Mutation	SNP	T	TCGA-WL-A834-01A-11D-A351-09	26646163	140196226	1017205	58	37174										
ANKRD16	54522	genome.wustl.edu	37	chr10	5925012	5925012	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tgaggtgggttgatgtggctCtcacatctacatcgacgcca	12	10	2	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:5925012C>T	ENST00000380094.5	-	5	1349	c.806G>A	c.(805-807)aGa>aAa	p.R269K	ANKRD16_ENST00000380092.4_Missense_Mutation_p.R269K|ANKRD16_ENST00000191063.8_Missense_Mutation_p.R269K	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	269										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TGATGTGGCTCTCACATCTAC	0.527																																																	0													172	134	147					10																	5925012		2203	4300	6503	SO:0001583	missense	54522			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"Ankyrin repeat domain containing"	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.806G>A	10.37:g.5925012C>T	ENSP00000369436:p.Arg269Lys		A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R269K	ENST00000380094.5	37	c.806	CCDS31136.1	10	.	.	.	.	.	.	.	.	.	.	C	9.255	1.041793	0.19748	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.64618	2.53;2.53;-0.11	5.33	3.48	0.39840	Ankyrin repeat-containing domain (4);	0.094831	0.64402	N	0.000001	T	0.32882	0.0844	N	0.04686	-0.185	0.44611	D	0.997588	B;B	0.14438	0.01;0.008	B;B	0.18871	0.023;0.015	T	0.21930	-1.0231	10	0.02654	T	1	-6.3223	8.6247	0.33881	0.0:0.7648:0.0:0.2352	.	269;269	Q6P6B7;F8WEI4	ANR16_HUMAN;.	K	269	ENSP00000369436:R269K;ENSP00000369434:R269K;ENSP00000352361:R269K	ENSP00000352361:R269K	R	-	2	0	ANKRD16	5965018	1.000000	0.71417	0.010000	0.14722	0.045000	0.14185	2.535000	0.45685	0.646000	0.30693	0.558000	0.71614	AGA	ANKRD16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.527	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD16	HGNC	protein_coding	OTTHUMT00000046611.2	C	XM_166138		5925012	-1	no_errors	ENST00000380092	ensembl	human	known	70_37	missense	SNP	0.981	T	T	5925012	C	T	5925012	3	4	194	1	0	0	0	0	1	0	0	0	645	913	32	1	291	1	ANKRD16	10	5925012	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		5925012	129609735	59	37175										
ITIH5	80760	genome.wustl.edu	37	chr10	7608295	7608295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tgatgaggatggtgatagtgCgcaagtaagtgcgctgtttc	15	5	0	3	rs560482680		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:7608295C>T	ENST00000256861.6	-	13	2303	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.R528H|ITIH5_ENST00000446830.2_Missense_Mutation_p.R524H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	742					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGTGATAGTGCGCAAGTAAGT	0.532													C|||	1	0.000199681	0	0	5008	,	,		20508	0		0	False		,,,				2504	0.001																0													114	97	103					10																	7608295		2203	4300	6503	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2225G>A	10.37:g.7608295C>T	ENSP00000256861:p.Arg742His		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R742H	ENST00000256861.6	37	c.2225		10	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287897	0.40494	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.12039	2.72;2.72;2.72	5.84	3.02	0.34903	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.297109	0.45126	N	0.000385	T	0.12817	0.0311	.	.	.	0.80722	D	1	B;B	0.24186	0.099;0.047	B;B	0.22601	0.04;0.024	T	0.05115	-1.0905	9	0.52906	T	0.07	-6.0799	11.4283	0.50025	0.0:0.7639:0.0:0.2361	.	742;528	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	H	742;528;524	ENSP00000256861:R742H;ENSP00000298441:R528H;ENSP00000387969:R524H	ENSP00000256861:R742H	R	-	2	0	ITIH5	7648301	1.000000	0.71417	0.992000	0.48379	0.722000	0.41435	1.762000	0.38451	0.386000	0.24997	0.655000	0.94253	CGC	ITIH5	-	pfam_ITI_HC_C		0.532	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	C	NM_030569		7608295	-1	no_errors	ENST00000256861	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7608295	C	T	7608295	3	4	194	1	0	0	0	0	1	0	0	0	7927	768	27	2	653	2	ITIH5	10	7608295	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	1683283	7608295	127926452	60	37176										
FZD8	8325	genome.wustl.edu	37	chr10	35929095	35929095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ttcataccggccgccaggaaCcatgtgagcgacaagatcac	10	13	2	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:35929095C>A	ENST00000374694.1	-	1	1267	c.1263G>T	c.(1261-1263)tgG>tgT	p.W421C	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	421					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCGCCAGGAACCATGTGAGCG	0.627																																																	0													53	51	52					10																	35929095		2203	4300	6503	SO:0001583	missense	8325			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1263G>T	10.37:g.35929095C>A	ENSP00000363826:p.Trp421Cys			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.W421C	ENST00000374694.1	37	c.1263	CCDS7192.1	10	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998931	0.35226	.	.	ENSG00000177283	ENST00000374694	D	0.91464	-2.85	3.74	3.74	0.42951	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000003	D	0.96861	0.8975	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98354	1.0545	10	0.87932	D	0	.	15.6696	0.77262	0.0:1.0:0.0:0.0	.	421	Q9H461	FZD8_HUMAN	C	421	ENSP00000363826:W421C	ENSP00000363826:W421C	W	-	3	0	FZD8	35969101	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.192000	0.77771	2.067000	0.61834	0.289000	0.19496	TGG	FZD8	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.627	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD8	HGNC	protein_coding	OTTHUMT00000047575.2	C	NM_031866		35929095	-1	no_errors	ENST00000374694	ensembl	human	known	70_37	missense	SNP	1.000	A	A	35929095	C	A	35929095	3	1	194	1	0	0	0	0	1	0	0	0	6154	508	18	4	825	4	FZD8	10	35929095	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	28320800	35929095	99605652	61	37177										
KCNMA1	3778	genome.wustl.edu	37	chr10	79397289	79397289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ggaggaggaggaggaggacgCgtctaggctgagatggttcg	21	5	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:79397289C>T	ENST00000286628.8	-	1	111	c.112G>A	c.(112-114)Gcg>Acg	p.A38T	KCNMA1_ENST00000481070.1_Missense_Mutation_p.A38T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A38T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A38T|KCNMA1_ENST00000286627.5_Missense_Mutation_p.A38T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A38T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A38T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A38T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A38T|KCNMA1_ENST00000480683.1_Missense_Mutation_p.A38T	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	38				A -> V (in Ref. 1; AAA85104). {ECO:0000305}.	blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	gaggaggaCGCGTCTAGGCTG	0.637																																																	0													20	17	18					10																	79397289		2200	4296	6496	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.112G>A	10.37:g.79397289C>T	ENSP00000286628:p.Ala38Thr		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.A38T	ENST00000286628.8	37	c.112		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.063871|3.063871	0.55432|0.55432	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000457953;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857|ENST00000372421	D;D;D;D;D;D;D|.	0.84944|.	-1.89;-1.83;-1.89;-1.89;-1.9;-1.9;-1.92|.	3.54|3.54	3.54|3.54	0.40534|0.40534	.|.	48.678300|.	0.00166|.	N|.	0.000000|.	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.08118|0.08118	0|0	0.25098|0.25098	N|N	0.9908|0.9908	P;D;B;B;P;B;B|.	0.71674|.	0.956;0.998;0.009;0.056;0.907;0.016;0.009|.	B;P;B;B;B;B;B|.	0.54210|.	0.218;0.745;0.003;0.054;0.169;0.007;0.003|.	T|T	0.15321|0.15321	-1.0441|-1.0441	10|5	0.66056|.	D|.	0.02|.	-0.5558|-0.5558	9.1609|9.1609	0.37021|0.37021	0.2357:0.7643:0.0:0.0|0.2357:0.7643:0.0:0.0	.|.	38;38;38;38;38;38;38|.	D5MRH1;Q12791-6;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;.;.;KCMA1_HUMAN;.;.|.	T|H	38;12;38;38;12;38;38;38|26	ENSP00000361517:A38T;ENSP00000396608:A12T;ENSP00000361520:A38T;ENSP00000286627:A38T;ENSP00000385552:A38T;ENSP00000346321:A38T;ENSP00000385806:A38T|.	ENSP00000286627:A38T|.	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	79067295|79067295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.359000|2.359000	0.44142|0.44142	1.915000|1.915000	0.55452|0.55452	0.455000|0.455000	0.32223|0.32223	GCG|CGC	KCNMA1	-	NULL		0.637	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	C	NM_002247		79397289	-1	no_errors	ENST00000406533	ensembl	human	known	70_37	missense	SNP	1.000	T	T	79397289	C	T	79397289	3	4	194	1	0	0	0	0	1	0	0	0	8093	768	27	2	3882	2	KCNMA1	10	79397289	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	43468194	79397289	56137458	62	37178										
FAM190B	54462	genome.wustl.edu	37	chr10	86131272	86131272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tttgggtaaattcaccaaagGcacattattaggaaggactt	9	6	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:86131272G>A	ENST00000224756.8	+	2	649	c.464G>A	c.(463-465)gGc>gAc	p.G155D	CCSER2_ENST00000372088.2_Missense_Mutation_p.G155D|CCSER2_ENST00000359979.4_Missense_Mutation_p.G155D	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	155				G -> C (in Ref. 5; AAG44473). {ECO:0000305}.	microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TTCACCAAAGGCACATTATTA	0.383																																																	0													75	75	75					10																	86131272		2203	4300	6503	SO:0001583	missense	54462				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.464G>A	10.37:g.86131272G>A	ENSP00000224756:p.Gly155Asp		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.G155D	ENST00000224756.8	37	c.464	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427739	0.43122	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.46451	0.87;2.21;2.2	5.93	4.98	0.66077	.	0.092181	0.47455	D	0.000221	T	0.52581	0.1743	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.992;0.979;0.996	P;P;D	0.66497	0.813;0.675;0.944	T	0.47249	-0.9132	10	0.44086	T	0.13	-12.4328	9.3617	0.38199	0.0841:0.1584:0.7575:0.0	.	155;155;155	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	D	155	ENSP00000353068:G155D;ENSP00000224756:G155D;ENSP00000361160:G155D	ENSP00000224756:G155D	G	+	2	0	FAM190B	86121252	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.249000	0.51437	2.802000	0.96397	0.561000	0.74099	GGC	FAM190B	-	NULL		0.383	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190B	HGNC	protein_coding	OTTHUMT00000049132.2	G	NM_018999		86131272	1	no_errors	ENST00000372088	ensembl	human	known	70_37	missense	SNP	0.744	A	A	86131272	G	A	86131272	3	1	194	1	0	0	0	0	1	0	0	0	5537	1203	42	4	466	4	FAM190B	10	86131272	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	6733983	86131272	49403475	63	37179										
ARL3	403	genome.wustl.edu	37	chr10	104459241	104459241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gattgtacacttttgatgttGaaaccctgaaacagggacaa	9	7	0	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:104459241G>C	ENST00000260746.5	-	3	284	c.153C>G	c.(151-153)ttC>ttG	p.F51L		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	51					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		TTTTGATGTTGAAACCCTGAA	0.299																																																	0													76	70	72					10																	104459241		2202	4298	6500	SO:0001583	missense	403			U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.153C>G	10.37:g.104459241G>C	ENSP00000260746:p.Phe51Leu		B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,prints_Gprotein_alpha_su,tigrfam_Small_GTP-bd_dom	p.F51L	ENST00000260746.5	37	c.153	CCDS7538.1	10	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873401	0.72180	.	.	ENSG00000138175	ENST00000260746	T	0.67698	-0.28	5.73	0.812	0.18744	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	M	0.85299	2.745	0.58432	D	0.999998	D	0.54964	0.969	P	0.54060	0.741	T	0.76318	-0.3003	10	0.87932	D	0	-18.3691	10.1159	0.42589	0.6435:0.0:0.3565:0.0	.	51	P36405	ARL3_HUMAN	L	51	ENSP00000260746:F51L	ENSP00000260746:F51L	F	-	3	2	ARL3	104449231	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	2.024000	0.41049	-0.039000	0.13602	-0.302000	0.09304	TTC	ARL3	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.299	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL3	HGNC	protein_coding	OTTHUMT00000050088.2	G	NM_004311		104459241	-1	no_errors	ENST00000260746	ensembl	human	known	70_37	missense	SNP	0.997	C	C	104459241	G	C	104459241	3	2	194	1	0	0	0	0	1	0	0	0	936	1281	45	1	411	1	ARL3	10	104459241	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	18327969	104459241	31075506	64	37180										
TDRD1	56165	genome.wustl.edu	37	chr10	115973798	115973798	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	catgggttgaacttggtgttGaccaaacagtagatgttgtg	13	5	0	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:115973798G>A	ENST00000369280.1	+	16	2597	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	TDRD1_ENST00000251864.2_Missense_Mutation_p.D713N|TDRD1_ENST00000422662.1_Missense_Mutation_p.D317N|TDRD1_ENST00000369282.1_Missense_Mutation_p.D713N|TDRD1_ENST00000369281.2_Missense_Mutation_p.D656N			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	713					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTTGGTGTTGACCAAACAGT	0.378																																																	0													284	259	267					10																	115973798		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2137G>A	10.37:g.115973798G>A	ENSP00000358286:p.Asp713Asn		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.D713N	ENST00000369280.1	37	c.2137		10	.	.	.	.	.	.	.	.	.	.	G	11.93	1.787062	0.31593	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.47	4.46	0.54185	Maternal tudor protein (1);	0.238899	0.41001	D	0.000972	T	0.04998	0.0134	N	0.16708	0.43	0.29233	N	0.873179	B;B;P;B;B	0.35628	0.206;0.007;0.513;0.011;0.043	B;B;B;B;B	0.35510	0.129;0.024;0.204;0.018;0.047	T	0.23726	-1.0180	10	0.08381	T	0.77	-21.8582	4.8162	0.13367	0.2089:0.0:0.7911:0.0	.	317;713;656;713;656	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	N	713;713;656;317;713	ENSP00000358288:D713N;ENSP00000251864:D713N;ENSP00000358287:D656N;ENSP00000402794:D317N;ENSP00000358286:D713N	ENSP00000251864:D713N	D	+	1	0	TDRD1	115963788	1.000000	0.71417	0.988000	0.46212	0.875000	0.50365	2.548000	0.45794	2.551000	0.86045	0.563000	0.77884	GAC	TDRD1	-	pfam_Tudor		0.378	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	G			115973798	1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.767	A	A	115973798	G	A	115973798	3	1	194	1	0	0	0	0	1	0	0	0	15760	1290	45	1	2195	1	TDRD1	10	115973798	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	11514557	115973798	19560949	65	37181										
LRRC4C	57689	genome.wustl.edu	37	chr11	40136562	40136562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ttcccaacggaattactcacCatacatgtgtacatgcctgt	6	12	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr11:40136562C>T	ENST00000278198.2	-	2	3244	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.M427I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M427I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M427I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	427	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATTACTCACCATACATGTGT	0.443																																																	0													191	168	176					11																	40136562		2203	4300	6503	SO:0001583	missense	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1281G>A	11.37:g.40136562C>T	ENSP00000278198:p.Met427Ile		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.M427I	ENST00000278198.2	37	c.1281	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	C	9.337	1.062034	0.19987	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.039097	0.85682	D	0.000000	T	0.32912	0.0845	N	0.02876	-0.465	0.49687	D	0.999813	B	0.02656	0.0	B	0.04013	0.001	T	0.36114	-0.9761	10	0.02654	T	1	.	12.5783	0.56375	0.0:0.9249:0.0:0.0751	.	427	Q9HCJ2	LRC4C_HUMAN	I	427	ENSP00000278198:M427I;ENSP00000436976:M427I;ENSP00000437132:M427I;ENSP00000434761:M427I	ENSP00000278198:M427I	M	-	3	0	LRRC4C	40093138	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.790000	0.55461	2.802000	0.96397	0.655000	0.94253	ATG	LRRC4C	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	C	NM_020929		40136562	-1	no_errors	ENST00000527150	ensembl	human	known	70_37	missense	SNP	1.000	T	T	40136562	C	T	40136562	3	4	194	1	0	0	0	0	1	0	0	0	9031	594	21	4	645	4	LRRC4C	11	40136562	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		40136562	94869954	66	37182										
MS4A2	2206	genome.wustl.edu	37	chr11	59860966	59860966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	acctgaagaagagcttggccTatatccacatccacagttgc	8	12	0	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr11:59860966T>C	ENST00000278888.3	+	5	574	c.472T>C	c.(472-474)Tat>Cat	p.Y158H		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	158					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAGCTTGGCCTATATCCACAT	0.443																																																	0													168	156	160					11																	59860966		2201	4295	6496	SO:0001583	missense	2206			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.472T>C	11.37:g.59860966T>C	ENSP00000278888:p.Tyr158His		Q54A81	Missense_Mutation	SNP	pfam_CD20-like	p.Y158H	ENST00000278888.3	37	c.472	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541732	0.45280	.	.	ENSG00000149534	ENST00000278888	T	0.02552	4.25	4.33	4.33	0.51752	.	1.373590	0.04460	N	0.374129	T	0.14960	0.0361	M	0.71036	2.16	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.70487	0.969;0.969	T	0.14896	-1.0456	10	0.49607	T	0.09	-4.0113	10.1812	0.42968	0.0:0.0:0.0:1.0	.	88;158	Q14298;Q01362	.;FCERB_HUMAN	H	158	ENSP00000278888:Y158H	ENSP00000278888:Y158H	Y	+	1	0	MS4A2	59617542	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.580000	0.23803	2.179000	0.69175	0.528000	0.53228	TAT	MS4A2	-	pfam_CD20-like		0.443	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	HGNC	protein_coding	OTTHUMT00000393844.1	T			59860966	1	no_errors	ENST00000278888	ensembl	human	known	70_37	missense	SNP	0.007	C	C	59860966	T	C	59860966	3	2	194	1	0	0	0	0	1	0	0	0	9883	1522	53	5	490	5	MS4A2	11	59860966	Missense_Mutation	SNP	T	TCGA-WL-A834-01A-11D-A351-09	19724404	59860966	75145550	67	37183										
AHNAK	79026	genome.wustl.edu	37	chr11	62289056	62289056	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	caccttccactttaggaaggGaaacatccacatcacccttc	5	15	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr11:62289056G>C	ENST00000378024.4	-	5	13107	c.12833C>G	c.(12832-12834)tCc>tGc	p.S4278C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4278					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAGGAAGGGAAACATCCAC	0.502																																																	0													186	190	189					11																	62289056		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12833C>G	11.37:g.62289056G>C	ENSP00000367263:p.Ser4278Cys		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S4278C	ENST00000378024.4	37	c.12833	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	g	8.426	0.847563	0.17034	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.73	4.73	0.59995	.	0.380289	0.19300	N	0.117675	T	0.33352	0.0860	M	0.93594	3.435	0.09310	N	1	D	0.76494	0.999	D	0.65874	0.939	T	0.37033	-0.9723	10	0.72032	D	0.01	.	15.5867	0.76489	0.0:0.0:1.0:0.0	.	4278	Q09666	AHNK_HUMAN	C	4278	ENSP00000367263:S4278C	ENSP00000367263:S4278C	S	-	2	0	AHNAK	62045632	0.991000	0.36638	0.071000	0.20095	0.002000	0.02628	5.232000	0.65332	2.194000	0.70268	0.543000	0.68304	TCC	AHNAK	-	NULL		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	G	NM_024060		62289056	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.108	C	C	62289056	G	C	62289056	3	2	194	1	0	0	0	0	1	0	0	0	414	1174	41	1	4959	1	AHNAK	11	62289056	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	2428090	62289056	72717460	68	37184										
C12orf35	55196	genome.wustl.edu	37	chr12	32140176	32140176	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	aatgaatatttaaatagtttCaggaataaaaagtacaaaag	6	2	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr12:32140176C>G	ENST00000312561.4	+	5	5420	c.5006C>G	c.(5005-5007)tCa>tGa	p.S1669*	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1669																	TAAATAGTTTCAGGAATAAAA	0.289																																																	0													45	47	46					12																	32140176		2201	4294	6495	SO:0001587	stop_gained	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5006C>G	12.37:g.32140176C>G	ENSP00000310338:p.Ser1669*		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	NULL	p.S1669*	ENST00000312561.4	37	c.5006	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	48	14.880174	0.99814	.	.	ENSG00000174718	ENST00000312561	.	.	.	4.86	4.86	0.63082	.	0.295993	0.24447	N	0.038456	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.5624	0.45152	0.0:0.901:0.0:0.0989	.	.	.	.	X	1669	.	ENSP00000310338:S1669X	S	+	2	0	C12orf35	32031443	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.267000	0.33050	2.383000	0.81215	0.462000	0.41574	TCA	KIAA1551	-	NULL		0.289	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	C	NM_018169		32140176	1	no_errors	ENST00000312561	ensembl	human	known	70_37	nonsense	SNP	1.000	G	G	32140176	C	G	32140176	4	3	194	1	0	0	0	0	0	1	0	0	1686	838	29	1	5012	1	C12orf35	12	32140176	Nonsense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		32140176	101711719	69	37185										
PTPRB	5801	genome.wustl.edu	37	chr12	71029767	71029767	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cactgctggttctggatggtCctgttgcatgagcccacgac	12	12	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr12:71029767C>T	ENST00000283228.2	-	0	3529				PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Silent_p.R45R|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000551525.1_Silent_p.R44R|PTPRB_ENST00000550358.1_Silent_p.R45R	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCTGGATGGTCCTGTTGCATG	0.478																																																	0													93	89	90					12																	71029767		2008	4161	6169	SO:0001628	intergenic_variant	5787			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029767C>T			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R45	ENST00000283228.2	37	c.135	CCDS8998.1	12																																																																																			PTPRB	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.478	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404485.1	C	NM_002849		71029767	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	silent	SNP	0.967	T	T	71029767	C	T	71029767	1	4	194	0	1	0	0	0	0	0	0	0	12826	854	30	1		1	PTPRB	12	71029767	IGR	SNP	C	TCGA-WL-A834-01A-11D-A351-09	38889591	71029767	62822128	70	37186										
SLC7A1	6541	genome.wustl.edu	37	chr13	30091325	30091325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ctcgggctgcctccagatgaCgcccgtgaccacggcacaga	12	16	0	4	rs548607156		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr13:30091325C>T	ENST00000380752.5	-	11	2019	c.1633G>A	c.(1633-1635)Gtc>Atc	p.V545I	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	545					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTCCAGATGACGCCCGTGACC	0.612																																																	0													37	36	36					13																	30091325		2203	4300	6503	SO:0001583	missense	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1633G>A	13.37:g.30091325C>T	ENSP00000370128:p.Val545Ile		Q5JR50	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.V545I	ENST00000380752.5	37	c.1633	CCDS9333.1	13	.	.	.	.	.	.	.	.	.	.	C	2.559	-0.302199	0.05495	.	.	ENSG00000139514	ENST00000380752	D	0.85556	-2.0	4.6	-2.28	0.06826	.	0.382176	0.28996	N	0.013469	T	0.59293	0.2183	N	0.10733	0.035	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53982	-0.8361	10	0.02654	T	1	.	6.5612	0.22487	0.0:0.4038:0.1361:0.4601	.	545	P30825	CTR1_HUMAN	I	545	ENSP00000370128:V545I	ENSP00000370128:V545I	V	-	1	0	SLC7A1	28989325	0.000000	0.05858	0.090000	0.20809	0.189000	0.23516	-0.741000	0.04855	-0.130000	0.11599	-0.291000	0.09656	GTC	SLC7A1	-	pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease		0.612	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	C	NM_003045		30091325	-1	no_errors	ENST00000380752	ensembl	human	known	70_37	missense	SNP	0.013	T	T	30091325	C	T	30091325	3	4	194	1	0	0	0	0	1	0	0	0	14722	536	19	2	268	2	SLC7A1	13	30091325	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		30091325	85078553	71	37187										
NBEA	26960	genome.wustl.edu	37	chr13	35926395	35926395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gatcatgtaacagcaaatcaGctgaaacagaagattctcaa	7	8	3	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr13:35926395G>A	ENST00000400445.3	+	38	6648	c.6114G>A	c.(6112-6114)caG>caA	p.Q2038Q	NBEA_ENST00000379939.2_Silent_p.Q2035Q|NBEA_ENST00000540320.1_Silent_p.Q2038Q|NBEA_ENST00000310336.4_Silent_p.Q2038Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2038					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGCAAATCAGCTGAAACAGA	0.373																																																	0													74	72	73					13																	35926395		1911	4116	6027	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6114G>A	13.37:g.35926395G>A			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.Q2038	ENST00000400445.3	37	c.6114	CCDS45026.1	13																																																																																			NBEA	-	pfam_DUF1088		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		G	NM_015678		35926395	1	no_errors	ENST00000310336	ensembl	human	known	70_37	silent	SNP	1.000	A	A	35926395	G	A	35926395	2	1	194	1	0	0	0	0	0	0	0	1	10210	962	34	4		4	NBEA	13	35926395	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	5835070	35926395	79243483	72	37188										
PTGDR	5729	genome.wustl.edu	37	chr14	52734971	52734971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	accgacggcacatcaccctgCgcctgggcgcactggtggcc	13	17	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr14:52734971C>T	ENST00000306051.2	+	1	541	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	PTGDR_ENST00000553372.1_Missense_Mutation_p.R147C	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	147					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.R147C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATCACCCTGCGCCTGGGCGC	0.637																																																	1	Substitution - Missense(1)	endometrium(1)											79	81	81					14																	52734971		2203	4300	6503	SO:0001583	missense	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.439C>T	14.37:g.52734971C>T	ENSP00000303424:p.Arg147Cys		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.R147C	ENST00000306051.2	37	c.439	CCDS9707.1	14	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107130	0.56291	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.43294	0.95;0.95	4.71	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000143	T	0.59810	0.2221	M	0.70595	2.14	0.46631	D	0.99913	D	0.89917	1.0	D	0.76071	0.987	T	0.62709	-0.6797	10	0.87932	D	0	-24.6357	9.6486	0.39883	0.1594:0.6865:0.154:0.0	.	147	Q13258	PD2R_HUMAN	C	147	ENSP00000303424:R147C;ENSP00000452408:R147C	ENSP00000303424:R147C	R	+	1	0	PTGDR	51804721	0.021000	0.18746	0.861000	0.33841	0.652000	0.38707	1.905000	0.39878	1.281000	0.44480	0.563000	0.77884	CGC	PTGDR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.637	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	C	NM_000953		52734971	1	no_errors	ENST00000306051	ensembl	human	known	70_37	missense	SNP	0.919	T	T	52734971	C	T	52734971	3	4	194	1	0	0	0	0	1	0	0	0	12768	768	27	2	441	2	PTGDR	14	52734971	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		52734971	54614569	73	37189										
OTUD7A	161725	genome.wustl.edu	37	chr15	31795972	31795972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tatatgggctaggacaaaaaCgtggaactcttccaggctct	10	9	2	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:31795972C>T	ENST00000307050.4	-	7	1014	c.922G>A	c.(922-924)Gtt>Att	p.V308I	OTUD7A_ENST00000382902.1_Missense_Mutation_p.V315I	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	308	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AGGACAAAAACGTGGAACTCT	0.478																																																	0													170	158	162					15																	31795972		2202	4300	6502	SO:0001583	missense	161725			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.922G>A	15.37:g.31795972C>T	ENSP00000305926:p.Val308Ile		Q8IWK5	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.V315I	ENST00000307050.4	37	c.943	CCDS10026.1	15	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215030	0.79352	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.23754	1.89;1.89	4.67	4.67	0.58626	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	L	0.39692	1.235	0.51482	D	0.999926	D;D	0.76494	0.999;0.999	D;D	0.79784	0.987;0.993	T	0.44112	-0.9349	10	0.87932	D	0	-16.4071	17.9624	0.89090	0.0:1.0:0.0:0.0	.	315;308	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	I	308;315	ENSP00000305926:V308I;ENSP00000372358:V315I	ENSP00000305926:V308I	V	-	1	0	OTUD7A	29583264	1.000000	0.71417	0.431000	0.26735	0.931000	0.56810	7.052000	0.76634	2.284000	0.76573	0.655000	0.94253	GTT	OTUD7A	-	pfam_OTU,pfscan_OTU		0.478	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	C	NM_130901		31795972	-1	no_errors	ENST00000382902	ensembl	human	known	70_37	missense	SNP	1.000	T	T	31795972	C	T	31795972	3	4	194	1	0	0	0	0	1	0	0	0	11342	536	19	2	1878	2	OTUD7A	15	31795972	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09		31795972	70735420	74	37190										
RYR3	6263	genome.wustl.edu	37	chr15	34047363	34047363	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	aatacgttgattctgctcaaGaatttattgcccatttaggt	7	7	2	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:34047363G>C	ENST00000389232.4	+	58	8567	c.8497G>C	c.(8497-8499)Gaa>Caa	p.E2833Q	RYR3_ENST00000415757.3_Missense_Mutation_p.E2833Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2833					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCTGCTCAAGAATTTATTGC	0.353																																																	0													71	69	70					15																	34047363		1854	4102	5956	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8497G>C	15.37:g.34047363G>C	ENSP00000373884:p.Glu2833Gln		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E2833Q	ENST00000389232.4	37	c.8497	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916953	0.52546	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.96587	-0.37;-4.06	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	N	0.20807	0.61	0.80722	D	1	D;B	0.67145	0.996;0.112	D;B	0.68621	0.959;0.05	D	0.93476	0.6823	10	0.15066	T	0.55	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	2833;2833	Q15413-2;Q15413	.;RYR3_HUMAN	Q	2833	ENSP00000373884:E2833Q;ENSP00000399610:E2833Q	ENSP00000354735:E2833Q	E	+	1	0	RYR3	31834655	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.781000	0.99029	2.809000	0.96659	0.555000	0.69702	GAA	RYR3	-	superfamily_ARM-type_fold		0.353	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34047363	1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	C	C	34047363	G	C	34047363	3	2	194	1	0	0	0	0	1	0	0	0	13800	943	33	1	8727	1	RYR3	15	34047363	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	2251391	34047363	68484029	75	37191										
ISLR2	57611	genome.wustl.edu	37	chr15	74426565	74426565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ttcgagctgggcgtcatcgcGctggatgtggcggagcgcga	18	10	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:74426565G>A	ENST00000361742.3	+	4	2239	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	ISLR2_ENST00000565540.1_Silent_p.A490A|ISLR2_ENST00000435464.1_Silent_p.A490A|ISLR2_ENST00000453268.2_Silent_p.A490A|ISLR2_ENST00000419208.1_Silent_p.A490A|ISLR2_ENST00000565159.1_Silent_p.A490A|ISLR2_ENST00000445793.1_Silent_p.A490A|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	490					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCGTCATCGCGCTGGATGTGG	0.726																																																	0													17	16	17					15																	74426565		2189	4294	6483	SO:0001819	synonymous_variant	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1470G>A	15.37:g.74426565G>A			A8K352|Q9P263	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.A490	ENST00000361742.3	37	c.1470	CCDS10259.1	15																																																																																			ISLR2	-	NULL		0.726	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	G	NM_020851		74426565	1	no_errors	ENST00000361742	ensembl	human	known	70_37	silent	SNP	0.994	A	A	74426565	G	A	74426565	2	1	194	1	0	0	0	0	0	0	0	1	7879	1074	38	2		2	ISLR2	15	74426565	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	40379202	74426565	28104827	76	37192										
ACSBG1	23205	genome.wustl.edu	37	chr15	78473179	78473179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ccggatgaagccagactgagCcgccacctcctggatgcgct	12	15	0	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:78473179C>T	ENST00000258873.4	-	9	1376	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	ACSBG1_ENST00000541759.1_Missense_Mutation_p.A149T|ACSBG1_ENST00000560817.1_Missense_Mutation_p.A149T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	391					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCAGACTGAGCCGCCACCTCC	0.652																																																	0													92	83	86					15																	78473179		2196	4293	6489	SO:0001583	missense	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1171G>A	15.37:g.78473179C>T	ENSP00000258873:p.Ala391Thr		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A391T	ENST00000258873.4	37	c.1171	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051706	0.55218	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.38240	1.49;1.15	5.48	3.49	0.39957	AMP-dependent synthetase/ligase (1);	0.134755	0.50627	D	0.000113	T	0.34629	0.0904	L	0.54965	1.715	0.44485	D	0.997424	P;P	0.42871	0.792;0.645	B;B	0.43194	0.411;0.411	T	0.10636	-1.0621	10	0.42905	T	0.14	-11.5065	9.2006	0.37256	0.1452:0.7793:0.0:0.0756	.	387;391	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	T	391;149	ENSP00000258873:A391T;ENSP00000439955:A149T	ENSP00000258873:A391T	A	-	1	0	ACSBG1	76260234	0.970000	0.33590	0.197000	0.23402	0.280000	0.26924	2.338000	0.43957	1.325000	0.45301	-0.136000	0.14681	GCT	ACSBG1	-	pfam_AMP-dep_Synth/Lig		0.652	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	C	NM_015162		78473179	-1	no_errors	ENST00000258873	ensembl	human	known	70_37	missense	SNP	0.968	T	T	78473179	C	T	78473179	3	4	194	1	0	0	0	0	1	0	0	0	173	739	26	4	1027	4	ACSBG1	15	78473179	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	4046614	78473179	24058213	77	37193										
ALPK3	57538	genome.wustl.edu	37	chr15	85411341	85411341	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gctcttcctgtctggctgcaGataccagggcctcaaggaaa	11	12	3	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:85411341G>A	ENST00000258888.5	+	14	5545		c.e14-1			NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3						heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTGGCTGCAGATACCAGGGC	0.622																																																	0													94	105	101					15																	85411341		2203	4299	6502	SO:0001630	splice_region_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5379-1G>A	15.37:g.85411341G>A			Q9P2L6	Splice_Site	SNP	-	e14-1	ENST00000258888.5	37	c.5379-1	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455330	0.63401	.	.	ENSG00000136383	ENST00000258888	.	.	.	4.62	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9291	0.47207	0.0922:0.0:0.9078:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPK3	83212345	1.000000	0.71417	0.862000	0.33874	0.918000	0.54935	9.060000	0.93907	1.306000	0.44926	0.556000	0.70494	.	ALPK3	-	-		0.622	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778	Intron	85411341	1	no_errors	ENST00000258888	ensembl	human	known	70_37	splice_site	SNP	0.999	A	A	85411341	G	A	85411341	5	1	194	1	0	0	0	0	0	0	1	0	546	956	33	1	5432	1	ALPK3	15	85411341	Splice_Site	SNP	G	TCGA-WL-A834-01A-11D-A351-09	6938162	85411341	17120051	78	37194										
OR4F6	390648	genome.wustl.edu	37	chr15	102346506	102346506	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ttgcatagagacctacacatTgggattcatggttactgcca	9	9	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:102346506T>G	ENST00000328882.4	+	1	605	c.584T>G	c.(583-585)tTg>tGg	p.L195W		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ACCTACACATTGGGATTCATG	0.353																																																	0													166	163	164					15																	102346506		2203	4299	6502	SO:0001583	missense	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.584T>G	15.37:g.102346506T>G	ENSP00000327525:p.Leu195Trp		B9EH28|Q6IF95	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L195W	ENST00000328882.4	37	c.584	CCDS32341.1	15	.	.	.	.	.	.	.	.	.	.	.	9.053	0.992545	0.18966	.	.	ENSG00000184140	ENST00000328882	T	0.00137	8.68	4.78	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.168629	0.27773	N	0.017912	T	0.00552	0.0018	M	0.92169	3.28	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20806	-1.0264	10	0.87932	D	0	.	10.103	0.42517	0.0:0.0:0.3223:0.6777	.	195	Q8NGB9	OR4F6_HUMAN	W	195	ENSP00000327525:L195W	ENSP00000327525:L195W	L	+	2	0	OR4F6	100164029	0.002000	0.14202	0.004000	0.12327	0.015000	0.08874	1.335000	0.33839	0.359000	0.24239	0.482000	0.46254	TTG	OR4F6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.353	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F6	HGNC	protein_coding	OTTHUMT00000417593.1	T			102346506	1	no_errors	ENST00000328882	ensembl	human	known	70_37	missense	SNP	0.003	G	G	102346506	T	G	102346506	3	3	194	1	0	0	0	0	1	0	0	0	11090	1821	63	5	586	5	OR4F6	15	102346506	Missense_Mutation	SNP	T	TCGA-WL-A834-01A-11D-A351-09	16935165	102346506	184886	79	37195										
CACNA1H	8912	genome.wustl.edu	37	chr16	1250536	1250536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	acaacggtgccatcaacttcGacaacatcggctacgcctgg	9	14	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:1250536G>T	ENST00000348261.5	+	7	1332	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	CACNA1H_ENST00000565831.1_Missense_Mutation_p.D362Y|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D362Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	362					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CATCAACTTCGACAACATCGG	0.652																																																	0													55	60	58					16																	1250536		2119	4213	6332	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1084G>T	16.37:g.1250536G>T	ENSP00000334198:p.Asp362Tyr		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.D362Y	ENST00000348261.5	37	c.1084	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633331	0.87660	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97598	-4.45;-4.45	4.4	4.4	0.53042	Ion transport (1);	0.053364	0.64402	D	0.000001	D	0.99187	0.9718	H	0.99238	4.48	0.44432	D	0.997357	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98579	1.0649	10	0.87932	D	0	.	16.1439	0.81551	0.0:0.0:1.0:0.0	.	362;362	O95180-2;O95180	.;CAC1H_HUMAN	Y	362	ENSP00000334198:D362Y;ENSP00000351401:D362Y	ENSP00000334198:D362Y	D	+	1	0	CACNA1H	1190537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.500000	0.81588	2.275000	0.75901	0.586000	0.80456	GAC	CACNA1H	-	pfam_Ion_trans_dom		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	G	NM_001005407		1250536	1	no_errors	ENST00000348261	ensembl	human	known	70_37	missense	SNP	1.000	T	T	1250536	G	T	1250536	3	4	194	1	0	0	0	0	1	0	0	0	2550	1058	37	3	1106	3	CACNA1H	16	1250536	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09		1250536	89104217	80	37196										
PDILT	204474	genome.wustl.edu	37	chr16	20396079	20396079	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tctatggtaatgtccactttGccaaagccgatcccattctt	6	12	2	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:20396079G>T	ENST00000302451.4	-	3	545	c.297C>A	c.(295-297)ggC>ggA	p.G99G	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	99					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTCCACTTTGCCAAAGCCGA	0.512																																																	0													302	295	297					16																	20396079		2203	4300	6503	SO:0001819	synonymous_variant	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.297C>A	16.37:g.20396079G>T			Q8IVQ5	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.G99	ENST00000302451.4	37	c.297	CCDS10584.1	16																																																																																			PDILT	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.512	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	G	NM_174924		20396079	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	silent	SNP	1.000	T	T	20396079	G	T	20396079	2	4	194	1	0	0	0	0	0	0	0	1	11698	1306	46	4		4	PDILT	16	20396079	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	19145543	20396079	69958674	81	37197										
GGA2	23062	genome.wustl.edu	37	chr16	23486311	23486311	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gagccaacgggccagcctccCaggaccaacctggagaggac	13	15	0	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:23486311C>G	ENST00000309859.4	-	14	1446	c.1364G>C	c.(1363-1365)tGg>tCg	p.W455S	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	455	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GCCAGCCTCCCAGGACCAACC	0.463																																																	0													67	74	72					16																	23486311		2197	4300	6497	SO:0001583	missense	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1364G>C	16.37:g.23486311C>G	ENSP00000311962:p.Trp455Ser		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.W455S	ENST00000309859.4	37	c.1364	CCDS10611.1	16	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612345	0.28712	.	.	ENSG00000103365	ENST00000309859	T	0.12984	2.63	5.02	5.02	0.67125	.	0.789641	0.11960	N	0.512797	T	0.15955	0.0384	L	0.54323	1.7	0.80722	D	1	B	0.16802	0.019	B	0.20184	0.028	T	0.07139	-1.0788	10	0.14656	T	0.56	-1.4312	14.2485	0.66004	0.0:1.0:0.0:0.0	.	455	Q9UJY4	GGA2_HUMAN	S	455	ENSP00000311962:W455S	ENSP00000311962:W455S	W	-	2	0	GGA2	23393812	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.244000	0.43124	2.509000	0.84616	0.549000	0.68633	TGG	GGA2	-	NULL		0.463	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	HGNC	protein_coding	OTTHUMT00000214019.1	C			23486311	-1	no_errors	ENST00000309859	ensembl	human	known	70_37	missense	SNP	1.000	G	G	23486311	C	G	23486311	3	3	194	1	0	0	0	0	1	0	0	0	6372	595	21	4	493	4	GGA2	16	23486311	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	3090232	23486311	66868442	82	37198										
NFATC3	4775	genome.wustl.edu	37	chr16	68160513	68160513	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gggggacatcctgttgtgaaGgtatgagacttttggggctt	16	5	0	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:68160513G>T	ENST00000346183.3	+	3	1425	c.1401G>T	c.(1399-1401)aaG>aaT	p.K467N	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Splice_Site_p.K467N|NFATC3_ENST00000329524.4_Splice_Site_p.K467N|NFATC3_ENST00000349223.5_Splice_Site_p.K467N	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	467	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTGTTGTGAAGGTATGAGACT	0.423																																																	0													70	68	69					16																	68160513		2198	4300	6498	SO:0001630	splice_region_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1401+1G>T	16.37:g.68160513G>T			O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.K467N	ENST00000346183.3	37	c.1401	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.232410	0.95207	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.51574	0.7;0.7;0.7	5.6	5.6	0.85130	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.184583	0.56097	D	0.000022	T	0.70211	0.3198	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.997	T	0.72418	-0.4300	10	0.87932	D	0	-7.7848	19.6153	0.95632	0.0:0.0:1.0:0.0	.	467;467;467;467	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	N	467	ENSP00000264008:K467N;ENSP00000300659:K467N;ENSP00000331324:K467N	ENSP00000331324:K467N	K	+	3	2	NFATC3	66718014	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.705000	0.98719	2.630000	0.89119	0.555000	0.69702	AAG	NFATC3	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NFAT		0.423	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	G	NM_004555	Missense_Mutation	68160513	1	no_errors	ENST00000346183	ensembl	human	known	70_37	missense	SNP	1.000	T	T	68160513	G	T	68160513	5	4	194	1	0	0	0	0	0	0	1	0	10388	1014	35	4	1411	4	NFATC3	16	68160513	Splice_Site	SNP	G	TCGA-WL-A834-01A-11D-A351-09	44674202	68160513	22194240	83	37199										
NUDT7	283927	genome.wustl.edu	37	chr16	77775505	77775505	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	acattgataactccatttgtGggtttaatagaccacaactt	6	8	0	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:77775505G>T	ENST00000268533.5	+	4	444	c.375G>T	c.(373-375)gtG>gtT	p.V125V	NUDT7_ENST00000437314.3_Silent_p.V72V|NUDT7_ENST00000564085.1_Missense_Mutation_p.G157W|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	125	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CTCCATTTGTGGGTTTAATAG	0.418																																																	0													66	63	64					16																	77775505		1892	4098	5990	SO:0001819	synonymous_variant	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"Nudix motif containing"	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.375G>T	16.37:g.77775505G>T			B4DLE5|H3BUB8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.G157W	ENST00000268533.5	37	c.469	CCDS42195.1	16																																																																																			NUDT7	-	NULL		0.418	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1	G			77775505	1	no_errors	ENST00000564085	ensembl	human	putative	70_37	missense	SNP	0.997	T	T	77775505	G	T	77775505	2	4	194	1	0	0	0	0	0	0	0	1	10768	1335	47	4		4	NUDT7	16	77775505	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	9614992	77775505	12579248	84	37200										
ANKFY1	51479	genome.wustl.edu	37	chr17	4088126	4088126	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tacttacctttctgctccagGatgacagacaccacatccgg	7	14	1	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:4088126G>T	ENST00000341657.4	-	12	1721	c.1686C>A	c.(1684-1686)atC>atA	p.I562I	ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000570535.1_Silent_p.I604I|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000574367.1_Silent_p.I562I|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	562					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTGCTCCAGGATGACAGACA	0.512																																																	0													83	87	86					17																	4088126		2111	4223	6334	SO:0001819	synonymous_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1686C>A	17.37:g.4088126G>T			A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.I604	ENST00000341657.4	37	c.1812		17																																																																																			ANKFY1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.512	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	G	NM_016376		4088126	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	silent	SNP	1.000	T	T	4088126	G	T	4088126	2	4	194	1	0	0	0	0	0	0	0	1	626	1164	41	3		3	ANKFY1	17	4088126	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09		4088126	77107084	85	37201										
SPNS3	201305	genome.wustl.edu	37	chr17	4389616	4389616	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ctggcagcccctatctcacaGgacttgtaagacgtgtctgc	10	13	2	1	rs537260481		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:4389616G>C	ENST00000355530.2	+	10	1553	c.1273G>C	c.(1273-1275)Gga>Cga	p.G425R	SPNS3_ENST00000333476.2_Missense_Mutation_p.G298R|RP13-580F15.2_ENST00000577064.1_RNA|RP13-580F15.2_ENST00000577176.1_RNA|RP13-580F15.2_ENST00000576086.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	425					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTATCTCACAGGACTTGTAAG	0.632																																																	0													49	47	48					17																	4389616		2203	4300	6503	SO:0001583	missense	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1273G>C	17.37:g.4389616G>C	ENSP00000347721:p.Gly425Arg		Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G425R	ENST00000355530.2	37	c.1273	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767056	0.69878	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.69685	-0.42;-0.42	4.78	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83312	0.5227	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86141	0.1581	10	0.87932	D	0	-8.7316	16.1152	0.81302	0.0:0.0:1.0:0.0	.	298;425	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	R	425;298	ENSP00000347721:G425R;ENSP00000333207:G298R	ENSP00000333207:G298R	G	+	1	0	SPNS3	4336365	1.000000	0.71417	0.966000	0.40874	0.679000	0.39708	7.461000	0.80834	2.600000	0.87896	0.591000	0.81541	GGA	SPNS3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	G	NM_182538		4389616	1	no_errors	ENST00000355530	ensembl	human	known	70_37	missense	SNP	0.988	C	C	4389616	G	C	4389616	3	2	194	1	0	0	0	0	1	0	0	0	15106	1001	35	4	1311	4	SPNS3	17	4389616	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	301490	4389616	76805594	86	37202										
POLR2A	5430	genome.wustl.edu	37	chr17	7406444	7406444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ccccttgcacttccaggttcCgctttgattataccaatgag	7	13	0	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:7406444C>T	ENST00000322644.6	+	17	3160	c.2761C>T	c.(2761-2763)Cgc>Tgc	p.R921C		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	921					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TTCCAGGTTCCGCTTTGATTA	0.582																																																	0													40	41	40					17																	7406444		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2761C>T	17.37:g.7406444C>T	ENSP00000314949:p.Arg921Cys		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.R921C	ENST00000322644.6	37	c.2761	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052300	0.75960	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68479	-0.33	5.65	5.65	0.86999	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.201651	0.44688	D	0.000429	T	0.73140	0.3549	M	0.90542	3.125	0.80722	D	1	B	0.25743	0.133	B	0.28139	0.086	T	0.74788	-0.3546	10	0.87932	D	0	-10.7464	12.3589	0.55192	0.2677:0.7323:0.0:0.0	.	921	P24928	RPB1_HUMAN	C	877;921	ENSP00000314949:R921C	ENSP00000314949:R921C	R	+	1	0	SLC35G6	7347168	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.863000	0.56016	2.826000	0.97356	0.563000	0.77884	CGC	POLR2A	-	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	C	NM_000937		7406444	1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	1.000	T	T	7406444	C	T	7406444	3	4	194	1	0	0	0	0	1	0	0	0	12238	652	23	2	2827	2	POLR2A	17	7406444	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	3016828	7406444	73788766	87	37203										
MYH3	4621	genome.wustl.edu	37	chr17	10535838	10535838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	aggtgtttgagggtctccgcCgcctggcggttggcgtggct	18	10	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:10535838C>T	ENST00000583535.1	-	34	4998	c.4911G>A	c.(4909-4911)gcG>gcA	p.A1637A	MYH3_ENST00000226209.7_Silent_p.A1637A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1637			A -> V (in DA2B; dbSNP:rs34165480). {ECO:0000269|PubMed:16642020}.		actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGGTCTCCGCCGCCTGGCGGT	0.567																																																	0													127	126	126					17																	10535838		2203	4300	6503	SO:0001819	synonymous_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4911G>A	17.37:g.10535838C>T			Q15492	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1637	ENST00000583535.1	37	c.4911	CCDS11157.1	17																																																																																			MYH3	-	pfam_Myosin_tail		0.567	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	C	NM_002470		10535838	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	silent	SNP	0.000	T	T	10535838	C	T	10535838	2	4	194	1	0	0	0	0	0	0	0	1	10059	639	23	2		2	MYH3	17	10535838	Silent	SNP	C	TCGA-WL-A834-01A-11D-A351-09	3129394	10535838	70659372	88	37204										
CDK5R1	8851	genome.wustl.edu	37	chr17	30814673	30814673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gtccctgtctcccagctaccGgaaggccacgctgtttgagg	12	14	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:30814673G>A	ENST00000313401.3	+	2	724	c.35G>A	c.(34-36)cGg>cAg	p.R12Q		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	12					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCCAGCTACCGGAAGGCCACG	0.687																																																	0													41	38	39					17																	30814673		2203	4300	6503	SO:0001583	missense	8851			X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.35G>A	17.37:g.30814673G>A	ENSP00000318486:p.Arg12Gln		E1P664|Q5U0G3	Missense_Mutation	SNP	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.R12Q	ENST00000313401.3	37	c.35	CCDS11273.1	17	.	.	.	.	.	.	.	.	.	.	g	18.13	3.555970	0.65425	.	.	ENSG00000176749	ENST00000313401	T	0.78003	-1.14	5.01	4.03	0.46877	.	0.070456	0.56097	D	0.000023	T	0.75708	0.3886	M	0.69823	2.125	0.41216	D	0.986474	B	0.17268	0.021	B	0.13407	0.009	T	0.73726	-0.3892	10	0.56958	D	0.05	-18.9646	12.4599	0.55727	0.0:0.0:0.8308:0.1692	.	12	Q15078	CD5R1_HUMAN	Q	12	ENSP00000318486:R12Q	ENSP00000318486:R12Q	R	+	2	0	CDK5R1	27838786	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	5.041000	0.64196	1.073000	0.40885	0.450000	0.29827	CGG	CDK5R1	-	pfam_CDK5_activator,pirsf_CDK5_activator		0.687	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R1	HGNC	protein_coding	OTTHUMT00000256264.1	G	NM_003885		30814673	1	no_errors	ENST00000313401	ensembl	human	known	70_37	missense	SNP	0.999	A	A	30814673	G	A	30814673	3	1	194	1	0	0	0	0	1	0	0	0	3148	1116	39	2	37	2	CDK5R1	17	30814673	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	20278835	30814673	50380537	89	37205										
PLEKHH3	79990	genome.wustl.edu	37	chr17	40823016	40823016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ggggctggacatttacttctCaaacctggtgagcacgtcgg	13	10	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:40823016C>G	ENST00000591022.1	-	9	1804	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	PLEKHH3_ENST00000293349.6_Intron|PLEKHH3_ENST00000456950.2_Intron|PLEKHH3_ENST00000412503.1_Intron	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	473	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ATTTACTTCTCAAACCTGGTG	0.637																																																	0													54	63	60					17																	40823016		2123	4235	6358	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1417G>C	17.37:g.40823016C>G	ENSP00000468678:p.Glu473Gln		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.E473Q	ENST00000591022.1	37	c.1417	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169487	0.78452	.	.	ENSG00000068137	ENST00000293349	.	.	.	5.16	5.16	0.70880	Band 4.1 domain (1);FERM domain (1);	0.000000	0.47093	D	0.000244	T	0.77922	0.4203	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.80037	-0.1550	9	0.66056	D	0.02	.	18.2783	0.90091	0.0:1.0:0.0:0.0	.	473	Q7Z736	PKHH3_HUMAN	Q	473	.	ENSP00000293349:E473Q	E	-	1	0	PLEKHH3	38076542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.055000	0.57441	2.420000	0.82092	0.561000	0.74099	GAG	PLEKHH3	-	smart_Band_41_domain,pfscan_FERM_domain		0.637	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	C	NM_024927		40823016	-1	no_errors	ENST00000591022	ensembl	human	known	70_37	missense	SNP	1.000	G	G	40823016	C	G	40823016	3	3	194	1	0	0	0	0	1	0	0	0	12102	835	29	1	984	1	PLEKHH3	17	40823016	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	10008343	40823016	40372194	90	37206										
MED13	9969	genome.wustl.edu	37	chr17	60107314	60107314	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	catggtggctagtactatcgGagttgaagccatcagatact	11	8	1	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:60107314G>C	ENST00000397786.2	-	7	1146	c.1070C>G	c.(1069-1071)tCc>tGc	p.S357C	MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	357					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGTACTATCGGAGTTGAAGCC	0.403																																																	0													103	92	96					17																	60107314		1840	4095	5935	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1070C>G	17.37:g.60107314G>C	ENSP00000380888:p.Ser357Cys		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.S357C	ENST00000397786.2	37	c.1070	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194262	0.38806	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.78595	-1.19	5.46	5.46	0.80206	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.265483	0.39544	N	0.001334	T	0.80237	0.4586	L	0.50333	1.59	0.39343	D	0.965611	B	0.30793	0.295	B	0.41299	0.353	T	0.79640	-0.1719	10	0.51188	T	0.08	-2.7633	19.3043	0.94155	0.0:0.0:1.0:0.0	.	357	Q9UHV7	MED13_HUMAN	C	357;356	ENSP00000380888:S357C	ENSP00000262436:S356C	S	-	2	0	MED13	57462096	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.066000	0.71185	2.551000	0.86045	0.462000	0.41574	TCC	MED13	-	pfam_Mediator_Med13_N_met/fun		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	G	NM_005121		60107314	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	C	C	60107314	G	C	60107314	3	2	194	1	0	0	0	0	1	0	0	0	9453	1174	41	1	5550	1	MED13	17	60107314	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	19284298	60107314	21087896	91	37207										
LRRC37A3	374819	genome.wustl.edu	37	chr17	62856867	62856867	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tagtaacagtgatttcacatCtaggttaacggctgagaaat	9	6	2	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:62856867C>G	ENST00000584306.1	-	11	3927	c.3397G>C	c.(3397-3399)Gat>Cat	p.D1133H	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D110H|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D251H|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1133H|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D171H	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1133						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GATTTCACATCTAGGTTAACG	0.438																																																	0													206	205	205					17																	62856867		2203	4300	6503	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3397G>C	17.37:g.62856867C>G	ENSP00000464535:p.Asp1133His		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D1133H	ENST00000584306.1	37	c.3397	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	12.78	2.041453	0.35989	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.46819	0.86;0.86;0.86	2.07	1.06	0.20224	.	.	.	.	.	T	0.59376	0.2189	M	0.71036	2.16	0.09310	N	1	B;D	0.61080	0.246;0.989	B;D	0.67103	0.274;0.949	T	0.45056	-0.9287	9	0.87932	D	0	.	3.9307	0.09283	0.0:0.7714:0.0:0.2286	.	251;1133	B4DG20;O60309	.;L37A3_HUMAN	H	214;171;110;1133	ENSP00000383674:D171H;ENSP00000335617:D110H;ENSP00000325713:D1133H	ENSP00000325713:D1133H	D	-	1	0	LRRC37A3	60287329	0.002000	0.14202	0.111000	0.21465	0.054000	0.15201	0.871000	0.28023	1.152000	0.42452	0.184000	0.17185	GAT	LRRC37A3	-	NULL		0.438	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	C	NM_199340		62856867	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.034	G	G	62856867	C	G	62856867	3	3	194	1	0	0	0	0	1	0	0	0	9016	913	32	1	1523	1	LRRC37A3	17	62856867	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	2749553	62856867	18338343	92	37208										
ROCK1	6093	genome.wustl.edu	37	chr18	18571173	18571173	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ctttgcctcttcaatagattGatgtttgtcagttaaacgag	8	7	3	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr18:18571173G>C	ENST00000399799.2	-	18	3047	c.2107C>G	c.(2107-2109)Caa>Gaa	p.Q703E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	703	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCAATAGATTGATGTTTGTCA	0.303																																																	0													262	242	249					18																	18571173		2203	4299	6502	SO:0001583	missense	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2107C>G	18.37:g.18571173G>C	ENSP00000382697:p.Gln703Glu		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.Q703E	ENST00000399799.2	37	c.2107	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	G	4.283	0.051737	0.08291	.	.	ENSG00000067900	ENST00000399799	T	0.63417	-0.04	4.02	4.02	0.46733	.	0.057425	0.64402	D	0.000001	T	0.38295	0.1035	N	0.08118	0	0.41139	D	0.985943	B	0.06786	0.001	B	0.06405	0.002	T	0.37502	-0.9703	10	0.02654	T	1	.	16.6822	0.85295	0.0:0.0:1.0:0.0	.	703	Q13464	ROCK1_HUMAN	E	703	ENSP00000382697:Q703E	ENSP00000382697:Q703E	Q	-	1	0	ROCK1	16825171	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.950000	0.56676	2.213000	0.71641	0.655000	0.94253	CAA	ROCK1	-	pirsf_Rho-assoc_coiled-coil_kin		0.303	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	G	NM_005406		18571173	-1	no_errors	ENST00000399799	ensembl	human	known	70_37	missense	SNP	1.000	C	C	18571173	G	C	18571173	3	2	194	1	0	0	0	0	1	0	0	0	13547	1299	45	1	2021	1	ROCK1	18	18571173	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09		18571173	59506075	93	37209										
VPS4B	9525	genome.wustl.edu	37	chr18	61074678	61074678	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	aagcaaccttgaagttgattCtgtagtttctttttttcagg	8	6	3	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr18:61074678C>T	ENST00000238497.5	-	4	554	c.351G>A	c.(349-351)caG>caA	p.Q117Q	VPS4B_ENST00000591519.1_Silent_p.Q117Q|VPS4B_ENST00000591383.1_5'Flank	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	117					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GAAGTTGATTCTGTAGTTTCT	0.294																																																	0													50	47	48					18																	61074678		2201	4290	6491	SO:0001819	synonymous_variant	9525			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.351G>A	18.37:g.61074678C>T			Q69HW4|Q9GZS7	Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.Q117	ENST00000238497.5	37	c.351	CCDS11983.1	18																																																																																			VPS4B	-	NULL		0.294	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	C	NM_004869		61074678	-1	no_errors	ENST00000238497	ensembl	human	known	70_37	silent	SNP	1.000	T	T	61074678	C	T	61074678	2	4	194	1	0	0	0	0	0	0	0	1	17244	912	32	1		1	VPS4B	18	61074678	Silent	SNP	C	TCGA-WL-A834-01A-11D-A351-09	42503505	61074678	17002570	94	37210										
FBXO15	201456	genome.wustl.edu	37	chr18	71791733	71791733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	taaatacatacatagtagccGagcctaatgtgctcctctcc	6	12	1	0	rs202162459	byFrequency	TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr18:71791733G>A	ENST00000419743.2	-	7	1065	c.986C>T	c.(985-987)tCg>tTg	p.S329L	FBXO15_ENST00000269500.5_Missense_Mutation_p.S253L	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	329						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CATAGTAGCCGAGCCTAATGT	0.348													G|||	6	0.00119808	0	0	5008	,	,		19413	0		0	False		,,,				2504	0.0061																0													136	132	133					18																	71791733		2203	4300	6503	SO:0001583	missense	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.986C>T	18.37:g.71791733G>A	ENSP00000393154:p.Ser329Leu		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S329L	ENST00000419743.2	37	c.986	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298945	0.81025	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.63096	-0.01;-0.02	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80369	0.4610	M	0.80183	2.485	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.82934	-0.0211	10	0.72032	D	0.01	-26.454	16.4476	0.83942	0.0:0.0:1.0:0.0	.	329;253	B3KST3;Q8NCQ5	.;FBX15_HUMAN	L	253;329	ENSP00000269500:S253L;ENSP00000393154:S329L	ENSP00000269500:S253L	S	-	2	0	FBXO15	69942713	1.000000	0.71417	0.845000	0.33349	0.994000	0.84299	5.918000	0.69996	2.476000	0.83614	0.563000	0.77884	TCG	FBXO15	-	NULL		0.348	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	G	NM_152676		71791733	-1	no_errors	ENST00000419743	ensembl	human	known	70_37	missense	SNP	0.989	A	A	71791733	G	A	71791733	3	1	194	1	0	0	0	0	1	0	0	0	5746	1059	37	1	562	1	FBXO15	18	71791733	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	10717055	71791733	6285515	95	37211										
PALM	5064	genome.wustl.edu	37	chr19	727657	727657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ggaggcagatgcaggacgacGagcagaagacacggctgctg	17	9	0	3			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:727657G>A	ENST00000338448.5	+	4	278	c.232G>A	c.(232-234)Gag>Aag	p.E78K	PALM_ENST00000264560.7_Missense_Mutation_p.E78K	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	78					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GCAGGACGACGAGCAGAAGAC	0.716																																																	0													37	39	38					19																	727657		2173	4281	6454	SO:0001583	missense	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.232G>A	19.37:g.727657G>A	ENSP00000341911:p.Glu78Lys		O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	pfam_Paralemmin	p.E78K	ENST00000338448.5	37	c.232	CCDS32857.1	19	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090205	0.55968	.	.	ENSG00000099864	ENST00000338448;ENST00000264560	T;T	0.32515	1.45;1.45	3.64	2.56	0.30785	.	0.438115	0.25019	N	0.033766	T	0.53254	0.1785	M	0.81802	2.56	0.41833	D	0.990087	D;D;D	0.76494	0.999;0.999;0.995	P;D;D	0.67548	0.889;0.952;0.933	T	0.58584	-0.7611	10	0.72032	D	0.01	-16.4346	11.7304	0.51732	0.0:0.1808:0.8192:0.0	.	78;78;78	B7Z649;O75781-2;O75781	.;.;PALM_HUMAN	K	78	ENSP00000341911:E78K;ENSP00000264560:E78K	ENSP00000264560:E78K	E	+	1	0	PALM	678657	0.998000	0.40836	0.984000	0.44739	0.243000	0.25628	2.738000	0.47401	0.628000	0.30357	-0.479000	0.04858	GAG	PALM	-	pfam_Paralemmin		0.716	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	G	NM_002579		727657	1	no_errors	ENST00000338448	ensembl	human	known	70_37	missense	SNP	0.999	A	A	727657	G	A	727657	3	1	194	1	0	0	0	0	1	0	0	0	11432	1059	37	1	246	1	PALM	19	727657	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09		727657	58401326	96	37212										
ATCAY	85300	genome.wustl.edu	37	chr19	3885794	3885794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	caccgaagccacgctccggaTggaaaacgtggacgtgaagg	14	11	0	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:3885794T>C	ENST00000450849.2	+	2	496	c.29T>C	c.(28-30)aTg>aCg	p.M10T	ATCAY_ENST00000600960.1_Missense_Mutation_p.M10T|ATCAY_ENST00000595916.1_3'UTR|ATCAY_ENST00000301260.6_Missense_Mutation_p.M10T|ATCAY_ENST00000398448.3_5'UTR	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	10					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCTCCGGATGGAAAACGTG	0.582																																																	0													35	39	37					19																	3885794		1947	3970	5917	SO:0001583	missense	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.29T>C	19.37:g.3885794T>C	ENSP00000390941:p.Met10Thr		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.M10T	ENST00000450849.2	37	c.29	CCDS45923.1	19	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436167	0.62955	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000539301	T;T	0.52983	0.64;0.64	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.72118	2.19	0.80722	D	1	D	0.60160	0.987	D	0.66196	0.942	T	0.67764	-0.5586	10	0.87932	D	0	-3.4805	11.0422	0.47838	0.0:0.0:0.0:1.0	.	10	Q86WG3	ATCAY_HUMAN	T	10	ENSP00000390941:M10T;ENSP00000301260:M10T	ENSP00000301260:M10T	M	+	2	0	ATCAY	3836794	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.181000	0.65054	1.632000	0.50472	0.402000	0.26972	ATG	ATCAY	-	NULL		0.582	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	T			3885794	1	no_errors	ENST00000301260	ensembl	human	known	70_37	missense	SNP	1.000	C	C	3885794	T	C	3885794	3	2	194	1	0	0	0	0	1	0	0	0	1078	1464	51	5	31	5	ATCAY	19	3885794	Missense_Mutation	SNP	T	TCGA-WL-A834-01A-11D-A351-09	3158137	3885794	55243189	97	37213										
SMARCA4	6597	genome.wustl.edu	37	chr19	11130308	11130308	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gcctttgtcccccagctccgGagtgggaagttcaacgtctt	11	13	2	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:11130308G>A	ENST00000429416.3	+	19	2828	c.2547G>A	c.(2545-2547)cgG>cgA	p.R849R	SMARCA4_ENST00000444061.3_Silent_p.R849R|SMARCA4_ENST00000450717.3_Silent_p.R849R|SMARCA4_ENST00000344626.4_Silent_p.R849R|SMARCA4_ENST00000590574.1_Silent_p.R849R|SMARCA4_ENST00000358026.2_Silent_p.R849R|SMARCA4_ENST00000541122.2_Silent_p.R849R|SMARCA4_ENST00000589677.1_Silent_p.R849R|SMARCA4_ENST00000413806.3_Silent_p.R849R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	849	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCAGCTCCGGAGTGGGAAGT	0.587			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											101	79	87					19																	11130308		2203	4300	6503	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2547G>A	19.37:g.11130308G>A			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R849	ENST00000429416.3	37	c.2547	CCDS12253.1	19																																																																																			SMARCA4	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.587	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11130308	1	no_errors	ENST00000358026	ensembl	human	known	70_37	silent	SNP	0.569	A	A	11130308	G	A	11130308	2	1	194	1	0	0	0	0	0	0	0	1	14800	1161	41	1		1	SMARCA4	19	11130308	Silent	SNP	G	TCGA-WL-A834-01A-11D-A351-09	7244514	11130308	47998675	98	37214										
C19orf57	79173	genome.wustl.edu	37	chr19	14000393	14000393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	agcacccatcatggactctcCgctcccaggtgccagagcca	9	17	2	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:14000393C>T	ENST00000586783.1	-	5	1275	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	C19orf57_ENST00000346736.2_Missense_Mutation_p.G426R|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Missense_Mutation_p.G426R			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	426					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ATGGACTCTCCGCTCCCAGGT	0.622																																																	0													44	47	46					19																	14000393		2203	4300	6503	SO:0001583	missense	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1276G>A	19.37:g.14000393C>T	ENSP00000465822:p.Gly426Arg		Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NULL	p.G426R	ENST00000586783.1	37	c.1276		19	.	.	.	.	.	.	.	.	.	.	C	4.704	0.130823	0.08981	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.40476	1.03;1.03	4.43	-3.44	0.04796	.	1.480890	0.04305	N	0.347952	T	0.15652	0.0377	N	0.08118	0	0.09310	N	1	B;B	0.21520	0.057;0.057	B;B	0.14023	0.01;0.01	T	0.17623	-1.0363	10	0.02654	T	1	0.2708	2.3776	0.04346	0.1884:0.4289:0.2326:0.1501	.	426;426	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	R	426	ENSP00000404382:G426R;ENSP00000254336:G426R	ENSP00000254336:G426R	G	-	1	0	C19orf57	13861393	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.156000	0.10100	-0.336000	0.08438	-1.018000	0.02450	GGA	C19orf57	-	NULL		0.622	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	C	NM_024323		14000393	-1	no_errors	ENST00000454313	ensembl	human	known	70_37	missense	SNP	0.000	T	T	14000393	C	T	14000393	3	4	194	1	0	0	0	0	1	0	0	0	1944	661	23	2	649	2	C19orf57	19	14000393	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	2870085	14000393	45128590	99	37215										
PTOV1	53635	genome.wustl.edu	37	chr19	50363362	50363362	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	catgaccagggcaactttgtCaacggcatccggcgtgtcat	11	12	2	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:50363362C>T	ENST00000601675.1	+	11	1265	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	PTOV1_ENST00000601638.1_Silent_p.V355V|PTOV1_ENST00000600603.1_Missense_Mutation_p.S332L|AC018766.5_ENST00000601893.1_RNA|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000599732.1_Silent_p.V387V|PTOV1_ENST00000391842.1_Silent_p.V387V|PTOV1_ENST00000221557.9_Missense_Mutation_p.S332L|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000598325.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	387	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCAACTTTGTCAACGGCATCC	0.577																																																	0													77	59	65					19																	50363362		2203	4300	6503	SO:0001819	synonymous_variant	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1161C>T	19.37:g.50363362C>T			Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	pfam_Mediator_Med25	p.S332L	ENST00000601675.1	37	c.995	CCDS12782.1	19	.	.	.	.	.	.	.	.	.	.	c	23.1	4.380282	0.82682	.	.	ENSG00000104960	ENST00000221557	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	T	0.75191	0.3816	.	.	.	0.80722	D	1	D	0.61697	0.99	P	0.58721	0.844	T	0.79926	-0.1597	7	0.87932	D	0	-17.8634	15.9638	0.79950	0.0:1.0:0.0:0.0	.	332	Q86YD1-2	.	L	332	.	ENSP00000221557:S332L	S	+	2	0	PTOV1	55055174	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.011000	0.57124	2.377000	0.81083	0.457000	0.33378	TCA	PTOV1	-	NULL		0.577	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1	C	NM_017432		50363362	1	no_errors	ENST00000221557	ensembl	human	known	70_37	missense	SNP	1.000	T	T	50363362	C	T	50363362	2	4	194	1	0	0	0	0	0	0	0	1	12797	813	29	1		1	PTOV1	19	50363362	Silent	SNP	C	TCGA-WL-A834-01A-11D-A351-09	36362969	50363362	8765621	100	37216										
LRRC4B	94030	genome.wustl.edu	37	chr19	51020885	51020885	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ctcttgaagagcagaggttcGtggatggagttgaggccagg	17	6	1	4			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:51020885G>T	ENST00000599957.1	-	3	2282	c.2085C>A	c.(2083-2085)caC>caA	p.H695Q	ASPDH_ENST00000597030.1_5'Flank|ASPDH_ENST00000376916.3_5'Flank|LRRC4B_ENST00000389201.3_Missense_Mutation_p.H695Q			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	695					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCAGAGGTTCGTGGATGGAGT	0.697																																																	0													26	30	29					19																	51020885		1909	4117	6026	SO:0001583	missense	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.2085C>A	19.37:g.51020885G>T	ENSP00000471502:p.His695Gln		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H695Q	ENST00000599957.1	37	c.2085	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336726	0.24253	.	.	ENSG00000131409	ENST00000389201	T	0.28454	1.61	2.61	2.61	0.31194	.	0.183723	0.31177	U	0.008104	T	0.19565	0.0470	L	0.29908	0.895	0.32885	D	0.511057	B	0.27380	0.177	B	0.15870	0.014	T	0.22730	-1.0208	10	0.36615	T	0.2	.	10.9607	0.47383	0.0:0.0:1.0:0.0	.	695	Q9NT99	LRC4B_HUMAN	Q	695	ENSP00000373853:H695Q	ENSP00000373853:H695Q	H	-	3	2	LRRC4B	55712697	0.969000	0.33509	0.999000	0.59377	0.948000	0.59901	0.090000	0.15025	1.465000	0.48006	0.455000	0.32223	CAC	LRRC4B	-	NULL		0.697	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	G	NM_001080457		51020885	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	missense	SNP	1.000	T	T	51020885	G	T	51020885	3	4	194	1	0	0	0	0	1	0	0	0	9030	1136	40	2	60	2	LRRC4B	19	51020885	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	657523	51020885	8108098	101	37217										
NLRP11	204801	genome.wustl.edu	37	chr19	56320318	56320318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tcttcacaaattcttcttccCgattctcatagagacagtaa	4	11	5	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:56320318C>T	ENST00000589093.1	-	3	1751	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	NLRP11_ENST00000360133.3_Missense_Mutation_p.R553Q|NLRP11_ENST00000443188.1_Missense_Mutation_p.R553Q|NLRP11_ENST00000589824.2_Missense_Mutation_p.R553Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.R454Q			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	553							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.R553L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTCTTCTTCCCGATTCTCATA	0.428																																																	1	Substitution - Missense(1)	lung(1)											142	131	135					19																	56320318		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1658G>A	19.37:g.56320318C>T	ENSP00000466285:p.Arg553Gln		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R553Q	ENST00000589093.1	37	c.1658	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.883459	0.00532	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.50813	0.73;0.73	2.2	-1.39	0.08997	.	.	.	.	.	T	0.14013	0.0339	N	0.02539	-0.55	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.04013	0.001;0.001	T	0.23868	-1.0176	9	0.02654	T	1	.	2.1758	0.03862	0.2379:0.3105:0.0:0.4516	.	553;553	P59045;P59045-2	NAL11_HUMAN;.	Q	553	ENSP00000409898:R553Q;ENSP00000353251:R553Q	ENSP00000353251:R553Q	R	-	2	0	NLRP11	61012130	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.567000	0.23608	-0.455000	0.07054	-2.290000	0.00267	CGG	NLRP11	-	NULL		0.428	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	C	NM_145007		56320318	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	missense	SNP	0.001	T	T	56320318	C	T	56320318	3	4	194	1	0	0	0	0	1	0	0	0	10497	652	23	2	1475	2	NLRP11	19	56320318	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	5299433	56320318	2808665	102	37218										
SNPH	9751	genome.wustl.edu	37	chr20	1285974	1285974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	agccgatgacacactgagccGgacggacgcgctggaagcca	14	13	0	2	rs144751280		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:1285974G>A	ENST00000381873.3	+	6	997	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	SNPH_ENST00000381867.1_Missense_Mutation_p.R298Q	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	254					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACACTGAGCCGGACGGACGCG	0.687																																																	0								G	GLN/ARG	1,4391		0,1,2195	35	34	34		761	4.8	1	20	dbSNP_134	34	0,8546		0,0,4273	no	missense	SNPH	NM_014723.2	43	0,1,6468	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	254/495	1285974	1,12937	2196	4273	6469	SO:0001583	missense	9751				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.761G>A	20.37:g.1285974G>A	ENSP00000371297:p.Arg254Gln		Q8IYI3	Missense_Mutation	SNP	NULL	p.R298Q	ENST00000381873.3	37	c.893	CCDS13012.1	20	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843046	0.32606	2.28E-4	0.0	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	4.75	0.60458	.	0.291378	0.28989	N	0.013493	T	0.29288	0.0729	N	0.25890	0.77	0.34613	D	0.717786	P;P	0.38745	0.645;0.576	B;B	0.29077	0.098;0.07	T	0.42582	-0.9443	9	0.25106	T	0.35	-30.7622	12.3656	0.55226	0.0839:0.0:0.9161:0.0	.	298;254	O15079-2;O15079	.;SNPH_HUMAN	Q	254;298	.	ENSP00000371291:R298Q	R	+	2	0	SNPH	1233974	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.840000	0.55843	2.479000	0.83701	0.561000	0.74099	CGG	SNPH	-	NULL		0.687	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2	G	NM_014723		1285974	1	no_errors	ENST00000381867	ensembl	human	known	70_37	missense	SNP	1.000	A	A	1285974	G	A	1285974	3	1	194	1	0	0	0	0	1	0	0	0	14880	1116	39	2	775	2	SNPH	20	1285974	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09		1285974	61739546	103	37219										
ZNF133	7692	genome.wustl.edu	37	chr20	18295839	18295839	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cacatgcttgtgtgcagaagGtaacatccagcctggggatc	12	10	0	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:18295839G>C	ENST00000316358.4	+	4	441	c.344G>C	c.(343-345)gGt>gCt	p.G115A	ZNF133_ENST00000535822.1_Missense_Mutation_p.G20A|ZNF133_ENST00000538547.1_Missense_Mutation_p.G20A|ZNF133_ENST00000402618.2_Missense_Mutation_p.G52A|ZNF133_ENST00000377671.3_Missense_Mutation_p.G114A|ZNF133_ENST00000401790.1_Missense_Mutation_p.G115A|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.G118A|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	115					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TGTGCAGAAGGTAACATCCAG	0.567																																																	0													94	93	93					20																	18295839		2203	4300	6503	SO:0001583	missense	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.344G>C	20.37:g.18295839G>C	ENSP00000346090:p.Gly115Ala		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G118A	ENST00000316358.4	37	c.353		20	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.127179	0.01770	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000434018;ENST00000538547;ENST00000535822;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T;T;T	0.06142	3.51;3.48;3.34;3.48;5.73;3.38;3.38;3.48;5.72	4.12	-1.02	0.10135	.	1.262310	0.05474	N	0.553552	T	0.04137	0.0115	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.10296	0.0;0.001;0.0;0.003	B;B;B;B	0.12156	0.0;0.001;0.001;0.007	T	0.45673	-0.9245	10	0.10636	T	0.68	0.0173	5.4064	0.16324	0.1651:0.3849:0.45:0.0	.	52;118;115;114	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	A	114;118;52;115;115;20;20;115;115	ENSP00000366899:G114A;ENSP00000400897:G118A;ENSP00000385279:G52A;ENSP00000383945:G115A;ENSP00000403835:G115A;ENSP00000442978:G20A;ENSP00000439427:G20A;ENSP00000346090:G115A;ENSP00000406638:G115A	ENSP00000346090:G115A	G	+	2	0	ZNF133	18243839	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.308000	0.08156	-0.142000	0.11354	0.655000	0.94253	GGT	ZNF133	-	NULL		0.567	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	G	NM_003434		18295839	1	no_errors	ENST00000396026	ensembl	human	known	70_37	missense	SNP	0.000	C	C	18295839	G	C	18295839	3	2	194	1	0	0	0	0	1	0	0	0	17753	1261	44	4	351	4	ZNF133	20	18295839	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	17009865	18295839	44729681	104	37220										
CST2	1470	genome.wustl.edu	37	chr20	23807092	23807092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gctccctggctcgtagcaccCgcagcaggcgtctgtagtac	12	15	1	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:23807092C>T	ENST00000304725.2	-	1	276	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	69					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TCGTAGCACCCGCAGCAGGCG	0.567																																					Pancreas(193;496 3017 22514 29918)												0													88	73	78					20																	23807092		2203	4300	6503	SO:0001583	missense	1470			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.206G>A	20.37:g.23807092C>T	ENSP00000307540:p.Arg69Gln		Q9UCQ7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R69Q	ENST00000304725.2	37	c.206	CCDS13161.1	20	.	.	.	.	.	.	.	.	.	.	C	2.765	-0.256924	0.05829	.	.	ENSG00000170369	ENST00000304725	T	0.26957	1.7	2.0	-2.58	0.06228	Proteinase inhibitor I25, cystatin (2);	0.980497	0.08360	N	0.957881	T	0.14141	0.0342	L	0.28054	0.825	0.09310	N	1	B	0.22683	0.073	B	0.24701	0.055	T	0.38993	-0.9635	10	0.12766	T	0.61	.	5.7127	0.17943	0.0:0.5276:0.0:0.4724	.	69	P09228	CYTT_HUMAN	Q	69	ENSP00000307540:R69Q	ENSP00000307540:R69Q	R	-	2	0	CST2	23755092	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.908000	0.04063	-0.799000	0.04439	0.298000	0.19748	CGG	CST2	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.567	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST2	HGNC	protein_coding	OTTHUMT00000078352.2	C			23807092	-1	no_errors	ENST00000304725	ensembl	human	known	70_37	missense	SNP	0.001	T	T	23807092	C	T	23807092	3	4	194	1	0	0	0	0	1	0	0	0	3977	652	23	2	231	2	CST2	20	23807092	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	5511253	23807092	39218428	105	37221										
CHD6	84181	genome.wustl.edu	37	chr20	40040787	40040787	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gtggccttcttccttaccctCagtcctggctccttggggat	10	14	2	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:40040787C>T	ENST00000373233.3	-	36	7425	c.7248G>A	c.(7246-7248)ctG>ctA	p.L2416L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2416					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCCTTACCCTCAGTCCTGGCT	0.567																																																	0													99	88	91					20																	40040787		2203	4300	6503	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7248G>A	20.37:g.40040787C>T			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L2416	ENST00000373233.3	37	c.7248	CCDS13317.1	20																																																																																			CHD6	-	pfam_BRK_domain,smart_BRK_domain		0.567	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40040787	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	silent	SNP	0.995	T	T	40040787	C	T	40040787	2	4	194	1	0	0	0	0	0	0	0	1	3334	813	29	1		1	CHD6	20	40040787	Silent	SNP	C	TCGA-WL-A834-01A-11D-A351-09	16233695	40040787	22984733	106	37222										
ZNF831	128611	genome.wustl.edu	37	chr20	57767394	57767394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ctgtccaaacagggcagcatCgacctgcccacgccctacac	8	18	0	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:57767394C>T	ENST00000371030.2	+	1	1320	c.1320C>T	c.(1318-1320)atC>atT	p.I440I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	440							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGGCAGCATCGACCTGCCCA	0.677																																																	0													29	36	34					20																	57767394		2083	4186	6269	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1320C>T	20.37:g.57767394C>T			Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I440	ENST00000371030.2	37	c.1320	CCDS42894.1	20																																																																																			ZNF831	-	NULL		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57767394	1	no_errors	ENST00000371030	ensembl	human	novel	70_37	silent	SNP	0.989	T	T	57767394	C	T	57767394	2	4	194	1	0	0	0	0	0	0	0	1	18215	874	31	1		1	ZNF831	20	57767394	Silent	SNP	C	TCGA-WL-A834-01A-11D-A351-09	17726607	57767394	5258126	107	37223										
CDKL5	6792	genome.wustl.edu	37	chrX	18627006	18627007	+	Missense_Mutation	DNP	TC	TC	AT													0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cctccagagaaggcacctctTccttccatacacgccagaag							TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:18627006_18627007TC>AT	ENST00000379989.3	+	14	2305_2306	c.2020_2021TC>AT	c.(2020-2022)TCc>ATc	p.S674I	CDKL5_ENST00000379996.3_Missense_Mutation_p.S674I|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	674					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGGCACCTCTTCCTTCCATACA	0.406																																																	0																																										SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	Exception_encountered	X.37:g.18627006_18627007delinsAT	ENSP00000369325:p.Ser674Ile		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S674T|p.S674F	ENST00000379989.3	37	c.2020|c.2021	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.406	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	T|C	NM_003159		18627006|18627007	1	no_errors	ENST00000379989	ensembl	human	known	70_37	missense	SNP	0.993|0.997	A|T	AT	18627007	TC	AT	18627006	3	1	194	1	0	0	0	0	1	0	0	0	3162	1783	62	5	2066	5	CDKL5	23	18627006	Missense_Mutation	DNP	TC	TCGA-WL-A834-01A-11D-A351-09		18627006	136643554	108	37224										
AR	367	genome.wustl.edu	37	chrX	66766391	66766391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	cggcggcggcggcggcggcgGcggcggcggcggcggcgagg	27	13	0	0			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:66766391G>A	ENST00000374690.3	+	1	1927	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	AR_ENST00000504326.1_Missense_Mutation_p.G468D|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.G468D	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	466	Modulating.|Poly-Gly.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ggcggcggcggcggcggcggc	0.736									Androgen Insensitivity Syndrome																																								0													2	2	2					X																	66766391		687	1653	2340	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1403G>A	X.37:g.66766391G>A	ENSP00000363822:p.Gly468Asp		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.G468D	ENST00000374690.3	37	c.1403	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	g	8.323	0.824853	0.16678	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.93953	-2.86;-3.32;-2.81	0.15	0.15	0.14883	.	0.529665	0.11260	U	0.582684	D	0.93298	0.7864	L	0.55213	1.73	0.09310	N	1	B;D;D	0.89917	0.112;0.996;1.0	B;D;D	0.73380	0.118;0.954;0.98	D	0.83792	0.0231	9	0.07175	T	0.84	.	.	.	.	.	468;468;467	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	D	278;468;468;468;460	ENSP00000363822:G468D;ENSP00000421155:G468D;ENSP00000379359:G468D	ENSP00000363822:G468D	G	+	2	0	AR	66683116	0.041000	0.20044	0.007000	0.13788	0.008000	0.06430	1.030000	0.30153	0.181000	0.19994	0.183000	0.17082	GGC	AR	-	NULL		0.736	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66766391	1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	0.007	A	A	66766391	G	A	66766391	3	1	194	1	0	0	0	0	1	0	0	0	836	1203	42	4	1405	4	AR	23	66766391	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	48139385	66766391	88504169	109	37225										
HNRNPH2	3188	genome.wustl.edu	37	chrX	100667593	100667593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	aaagctcatggctatgcagcGgccaggtccctatgataggc	12	11	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:100667593G>A	ENST00000316594.5	+	2	695	c.617G>A	c.(616-618)cGg>cAg	p.R206Q		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	206					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GCTATGCAGCGGCCAGGTCCC	0.542																																																	0													55	52	53					X																	100667593		2203	4300	6503	SO:0001583	missense	3188			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.617G>A	X.37:g.100667593G>A	ENSP00000361927:p.Arg206Gln		A1L400|Q9HHA7	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.R206Q	ENST00000316594.5	37	c.617	CCDS14485.1	X	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144132	0.57044	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.13307	2.6	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.75447	2.3	0.58432	D	0.999999	B	0.21071	0.051	B	0.19391	0.025	T	0.02917	-1.1094	10	0.72032	D	0.01	-6.0111	14.5956	0.68403	0.0:0.0:1.0:0.0	.	206	P55795	HNRH2_HUMAN	Q	161;206	ENSP00000361927:R206Q	ENSP00000361927:R206Q	R	+	2	0	HNRNPH2	100554249	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.716000	0.84723	2.416000	0.81992	0.513000	0.50165	CGG	HNRNPH2	-	NULL		0.542	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH2	HGNC	protein_coding	OTTHUMT00000057556.1	G	NM_019597		100667593	1	no_errors	ENST00000316594	ensembl	human	known	70_37	missense	SNP	1.000	A	A	100667593	G	A	100667593	3	1	194	1	0	0	0	0	1	0	0	0	7287	1116	39	2	619	2	HNRNPH2	23	100667593	Missense_Mutation	SNP	G	TCGA-WL-A834-01A-11D-A351-09	33901202	100667593	54602967	110	37226										
NXF2	56001	genome.wustl.edu	37	chrX	101572376	101572376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	gcgaaagaagaatgaaatggCatagtgaagacgaaatccgt	12	5	0	5			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:101572376C>T	ENST00000372758.1	+	9	1124	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	NXF2_ENST00000395088.2_Missense_Mutation_p.H92Y|NXF2_ENST00000372757.1_Missense_Mutation_p.H92Y|NXF2_ENST00000372763.1_Missense_Mutation_p.H4Y|NXF2_ENST00000330252.5_Missense_Mutation_p.H92Y			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	92					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|lung(2)	4						AATGAAATGGCATAGTGAAGA	0.433																																																	0													33	30	31					X																	101572376		1910	3574	5484	SO:0001583	missense	56001			AJ277526	CCDS14497.1	Xq22.1	2011-05-25			ENSG00000185554				8072	protein-coding gene	gene with protein product	"cancer/testis antigen 39", "TAP like protein 2"	300315				11073998, 11279525	Standard	NM_022053		Approved	CT39, TAPL-2	uc004eix.4	Q9GZY0		ENST00000372758.1:c.274C>T	X.37:g.101572376C>T	ENSP00000361844:p.His92Tyr		Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.H92Y	ENST00000372758.1	37	c.274	CCDS14497.1	X	.	.	.	.	.	.	.	.	.	.	C	6.421	0.445747	0.12164	.	.	ENSG00000185554	ENST00000395088;ENST00000330252;ENST00000372763;ENST00000372758;ENST00000372757	T;T;T;T;T	0.44881	0.93;0.93;0.91;0.93;0.93	1.94	-1.28	0.09318	.	2.125170	0.03203	U	0.175109	T	0.38081	0.1027	L	0.57536	1.79	0.09310	N	1	B;B	0.24533	0.017;0.105	B;B	0.24701	0.006;0.055	T	0.25222	-1.0138	10	0.59425	D	0.04	-0.6638	2.7213	0.05201	0.0:0.3819:0.2534:0.3648	.	4;92	Q5JRM6;Q9GZY0	.;NXF2_HUMAN	Y	92;92;4;92;92	ENSP00000378523:H92Y;ENSP00000331471:H92Y;ENSP00000361849:H4Y;ENSP00000361844:H92Y;ENSP00000361843:H92Y	ENSP00000331471:H92Y	H	+	1	0	NXF2	101459032	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.250000	0.08830	-0.524000	0.06400	0.181000	0.17075	CAT	NXF2	-	NULL		0.433	NXF2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2	HGNC	protein_coding	OTTHUMT00000057618.1	C	NM_017809		101572376	1	no_errors	ENST00000330252	ensembl	human	known	70_37	missense	SNP	0.000	T	T	101572376	C	T	101572376	3	4	194	1	0	0	0	0	1	0	0	0	10807	710	25	4	284	4	NXF2	23	101572376	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	904783	101572376	53698184	111	37227										
ACSL4	2182	genome.wustl.edu	37	chrX	108924278	108924278	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tgattgcatgctgtgaatctCaaatccttcagggtactctg	9	9	3	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:108924278C>G	ENST00000469796.2	-	6	1123	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	ACSL4_ENST00000348502.6_Missense_Mutation_p.E202Q|ACSL4_ENST00000340800.2_Missense_Mutation_p.E243Q			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	243					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CTGTGAATCTCAAATCCTTCA	0.343																																					Pancreas(188;358 2127 38547 41466 45492)												0													131	118	122					X																	108924278		2203	4300	6503	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.727G>C	X.37:g.108924278C>G	ENSP00000419171:p.Glu243Gln		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E243Q	ENST00000469796.2	37	c.727	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202294	0.22121	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.10763	2.84;2.84;2.84	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.469632	0.25369	N	0.031167	T	0.07279	0.0184	N	0.05124	-0.11	0.39476	D	0.967806	B	0.09022	0.002	B	0.14023	0.01	T	0.43861	-0.9365	10	0.19590	T	0.45	-21.5079	19.4804	0.95007	0.0:1.0:0.0:0.0	.	243	O60488	ACSL4_HUMAN	Q	202;243;243	ENSP00000262835:E202Q;ENSP00000419171:E243Q;ENSP00000339787:E243Q	ENSP00000339787:E243Q	E	-	1	0	ACSL4	108810934	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.892000	0.48625	2.555000	0.86185	0.513000	0.50165	GAG	ACSL4	-	pfam_AMP-dep_Synth/Lig		0.343	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	C	NM_004458		108924278	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	missense	SNP	1.000	G	G	108924278	C	G	108924278	3	3	194	1	0	0	0	0	1	0	0	0	179	835	29	1	1452	1	ACSL4	23	108924278	Missense_Mutation	SNP	C	TCGA-WL-A834-01A-11D-A351-09	7351902	108924278	46346282	112	37228										
MAGEC3	139081	genome.wustl.edu	37	chrX	140985330	140985330	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	ccagaaagctgctcactataCattgggtgcagagaaagtac	10	9	1	2			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:140985330C>T	ENST00000298296.1	+	7	1728				MAGEC3_ENST00000409007.1_Missense_Mutation_p.H298Y|MAGEC3_ENST00000536088.1_Missense_Mutation_p.H298Y|MAGEC3_ENST00000443323.2_Missense_Mutation_p.H218Y|MAGEC3_ENST00000544766.1_Missense_Mutation_p.H298Y	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCACTATACATTGGGTGCA	0.532																																																	0													72	72	72					X																	140985330		2203	4300	6503	SO:0001627	intron_variant	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1728+58C>T	X.37:g.140985330C>T			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.H298Y	ENST00000298296.1	37	c.892	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	7.377	0.627920	0.14257	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	1.25	-1.2	0.09554	.	.	.	.	.	T	0.04815	0.0130	N	0.17474	0.49	0.09310	N	1	B	0.27117	0.168	B	0.43103	0.408	T	0.53143	-0.8480	8	.	.	.	.	6.4628	0.21966	0.0:0.6118:0.3882:0.0	.	298	Q3SYA7	.	Y	298;218;298;298	ENSP00000441107:H298Y;ENSP00000438254:H218Y;ENSP00000440444:H298Y;ENSP00000386566:H298Y	.	H	+	1	0	MAGEC3	140812996	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.213000	0.09305	-0.488000	0.06726	-0.792000	0.03331	CAT	MAGEC3	-	pfam_MAGE,pfscan_MAGE		0.532	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140985330	1	no_errors	ENST00000536088	ensembl	human	known	70_37	missense	SNP	0.000	T	T	140985330	C	T	140985330	1	4	194	0	1	0	0	0	0	0	0	0	9205	478	17	4		4	MAGEC3	23	140985330	Intron	SNP	C	TCGA-WL-A834-01A-11D-A351-09	32061052	140985330	14285230	113	37229										
IL9R	3581	genome.wustl.edu	37	chrX	155235748	155235748	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.236842105263158	27	9.71199551676301e-06	2.50932568149211	5.19607843137255	1.52418300653595	0.599010745226174	0.7905311875774	16	tgggcccttcctgtccacagGccctctgatcccaccctggg	10	18	1	1			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:155235748G>A	ENST00000244174.5	+	7	961	c.782G>A	c.(781-783)gGc>gAc	p.G261D	IL9R_ENST00000424344.3_Splice_Site_p.G240D|IL9R_ENST00000540897.1_Splice_Site_p.G286D|IL9R_ENST00000369423.2_Splice_Site_p.G296D	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	261					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGTCCACAGGCCCTCTGATC	0.637																																																	0													51	46	48					X																	155235748		2203	4296	6499	SO:0001630	splice_region_variant	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.782-1G>A	X.37:g.155235748G>A			B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.G261D	ENST00000244174.5	37	c.782	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	10.99	1.507358	0.27036	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.23950	2.94;2.95;1.88;1.89	1.57	1.57	0.23409	.	0.425024	0.18001	N	0.154888	T	0.40979	0.1139	.	.	.	0.09310	N	1	P;P;D	0.89917	0.933;0.759;1.0	P;B;D	0.91635	0.557;0.256;0.999	T	0.05146	-1.0903	8	.	.	.	.	6.0853	0.19964	0.0:0.0:1.0:0.0	.	240;261;296	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	D	261;240;240;296;286	ENSP00000244174:G261D;ENSP00000388918:G240D;ENSP00000358431:G296D;ENSP00000438112:G286D	.	G	+	2	0	IL9R	154888942	0.002000	0.14202	0.005000	0.12908	0.079000	0.17450	0.560000	0.23500	1.086000	0.41228	0.287000	0.19450	GGC	IL9R	-	NULL		0.637	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	G	NM_002186	Missense_Mutation	155235748	1	no_errors	ENST00000244174	ensembl	human	known	70_37	missense	SNP	0.004	A	A	155235748	G	A	155235748	5	1	194	1	0	0	0	0	0	0	1	0	7728	1217	42	4	808	4	IL9R	23	155235748	Splice_Site	SNP	G	TCGA-WL-A834-01A-11D-A351-09	14250418	155235748	34812	114	37230										
